#Format: HPO-ID<tab>HPO-Name<tab>Gene-ID<tab>Gene-Name
HP:0000878	11 pairs of ribs	126792	B3GALT6
HP:0004691	2-3 toe syndactyly	6660	SOX5
HP:0004691	2-3 toe syndactyly	10682	EBP
HP:0004691	2-3 toe syndactyly	8318	CDC45
HP:0004692	4-5 toe syndactyly	5932	RBBP8
HP:0003607	4-Hydroxyphenylacetic aciduria	3242	HPD
HP:0003161	4-Hydroxyphenylpyruvic aciduria	3242	HPD
HP:0040142	5-oxoprolinase deficiency	26873	OPLAH
HP:0005112	Abdominal aortic aneurysm	2006	ELN
HP:0003270	Abdominal distention	4645	MYO5B
HP:0003270	Abdominal distention	51128	SAR1B
HP:0003270	Abdominal distention	9321	TRIP11
HP:0003270	Abdominal distention	23534	TNPO3
HP:0012743	Abdominal obesity	7681	MKRN3
HP:0002027	Abdominal pain	10599	SLCO1B1
HP:0002027	Abdominal pain	1908	EDN3
HP:0002027	Abdominal pain	23417	MLYCD
HP:0002027	Abdominal pain	10892	MALT1
HP:0002027	Abdominal pain	4023	LPL
HP:0002027	Abdominal pain	3257	HPS1
HP:0002027	Abdominal pain	2006	ELN
HP:0002027	Abdominal pain	4594	MUT
HP:0002027	Abdominal pain	26873	OPLAH
HP:0011458	Abdominal symptom	8318	CDC45
HP:0011458	Abdominal symptom	57492	ARID1B
HP:0011458	Abdominal symptom	4261	CIITA
HP:0011458	Abdominal symptom	26873	OPLAH
HP:0011458	Abdominal symptom	6496	SIX3
HP:0011458	Abdominal symptom	10599	SLCO1B1
HP:0011458	Abdominal symptom	6531	SLC6A3
HP:0011458	Abdominal symptom	80270	HSD3B7
HP:0011458	Abdominal symptom	445	ASS1
HP:0011458	Abdominal symptom	4594	MUT
HP:0011458	Abdominal symptom	6660	SOX5
HP:0011458	Abdominal symptom	4645	MYO5B
HP:0011458	Abdominal symptom	613	BCR
HP:0011458	Abdominal symptom	4729	NDUFV2
HP:0011458	Abdominal symptom	10892	MALT1
HP:0011458	Abdominal symptom	2778	GNAS
HP:0011458	Abdominal symptom	2799	GNS
HP:0011458	Abdominal symptom	6899	TBX1
HP:0011458	Abdominal symptom	23394	ADNP
HP:0011458	Abdominal symptom	283489	CHAMP1
HP:0011458	Abdominal symptom	23417	MLYCD
HP:0011458	Abdominal symptom	56262	LRRC8A
HP:0011458	Abdominal symptom	23522	KAT6B
HP:0011458	Abdominal symptom	23534	TNPO3
HP:0011458	Abdominal symptom	5156	PDGFRA
HP:0011458	Abdominal symptom	9321	TRIP11
HP:0011458	Abdominal symptom	3257	HPS1
HP:0011458	Abdominal symptom	7443	VRK1
HP:0011458	Abdominal symptom	9526	MPDU1
HP:0011458	Abdominal symptom	25939	SAMHD1
HP:0011458	Abdominal symptom	9652	TTC37
HP:0011458	Abdominal symptom	3561	IL2RG
HP:0011458	Abdominal symptom	7681	MKRN3
HP:0011458	Abdominal symptom	9775	EIF4A3
HP:0011458	Abdominal symptom	56922	MCCC1
HP:0011458	Abdominal symptom	118429	ANTXR2
HP:0011458	Abdominal symptom	3798	KIF5A
HP:0011458	Abdominal symptom	79600	TCTN1
HP:0011458	Abdominal symptom	9997	SCO2
HP:0011458	Abdominal symptom	83737	ITCH
HP:0011458	Abdominal symptom	3908	LAMA2
HP:0011458	Abdominal symptom	10084	PQBP1
HP:0011458	Abdominal symptom	1908	EDN3
HP:0011458	Abdominal symptom	6049	RNF6
HP:0011458	Abdominal symptom	4023	LPL
HP:0011458	Abdominal symptom	51128	SAR1B
HP:0011458	Abdominal symptom	79813	EHMT1
HP:0011458	Abdominal symptom	2006	ELN
HP:0010866	Abdominal wall defect	613	BCR
HP:0010866	Abdominal wall defect	9321	TRIP11
HP:0010866	Abdominal wall defect	2189	FANCG
HP:0010866	Abdominal wall defect	9361	LONP1
HP:0010866	Abdominal wall defect	57492	ARID1B
HP:0010866	Abdominal wall defect	6899	TBX1
HP:0010866	Abdominal wall defect	10516	FBLN5
HP:0010866	Abdominal wall defect	57697	FANCM
HP:0010866	Abdominal wall defect	1954	MEGF8
HP:0010866	Abdominal wall defect	79813	EHMT1
HP:0010866	Abdominal wall defect	2006	ELN
HP:0002846	Abnormal B cell morphology	4261	CIITA
HP:0002846	Abnormal B cell morphology	56262	LRRC8A
HP:0002846	Abnormal B cell morphology	3561	IL2RG
HP:0002846	Abnormal B cell morphology	23534	TNPO3
HP:0011400	Abnormal CNS myelination	1605	DAG1
HP:0011400	Abnormal CNS myelination	25939	SAMHD1
HP:0011400	Abnormal CNS myelination	4729	NDUFV2
HP:0011400	Abnormal CNS myelination	4594	MUT
HP:0030085	Abnormal CSF lactate level	9997	SCO2
HP:0030085	Abnormal CSF lactate level	4729	NDUFV2
HP:0025454	Abnormal CSF metabolite level	9997	SCO2
HP:0025454	Abnormal CSF metabolite level	4729	NDUFV2
HP:0025456	Abnormal CSF protein level	410	ARSA
HP:0003115	Abnormal EKG	9992	KCNE2
HP:0003115	Abnormal EKG	781	CACNA2D1
HP:0003115	Abnormal EKG	6736	SRY
HP:0003115	Abnormal EKG	79188	TMEM43
HP:0003115	Abnormal EKG	2778	GNAS
HP:0025074	Abnormal QRS complex	79188	TMEM43
HP:0031547	Abnormal QT interval	9992	KCNE2
HP:0031547	Abnormal QT interval	781	CACNA2D1
HP:0031547	Abnormal QT interval	6736	SRY
HP:0031547	Abnormal QT interval	2778	GNAS
HP:0009124	Abnormal adipose tissue morphology	7486	WRN
HP:0009124	Abnormal adipose tissue morphology	126792	B3GALT6
HP:0009124	Abnormal adipose tissue morphology	5506	PPP1R3A
HP:0009124	Abnormal adipose tissue morphology	4607	MYBPC3
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6660	SOX5
HP:0006919	Abnormal aggressive, impulsive or violent behavior	288	ANK3
HP:0006919	Abnormal aggressive, impulsive or violent behavior	54820	NDE1
HP:0006919	Abnormal aggressive, impulsive or violent behavior	5932	RBBP8
HP:0006919	Abnormal aggressive, impulsive or violent behavior	1917	EEF1A2
HP:0006919	Abnormal aggressive, impulsive or violent behavior	55180	LINS1
HP:0006919	Abnormal aggressive, impulsive or violent behavior	57492	ARID1B
HP:0006919	Abnormal aggressive, impulsive or violent behavior	79813	EHMT1
HP:0006919	Abnormal aggressive, impulsive or violent behavior	6899	TBX1
HP:0012116	Abnormal albumin level	23534	TNPO3
HP:0012116	Abnormal albumin level	9652	TTC37
HP:0012116	Abnormal albumin level	51128	SAR1B
HP:0012400	Abnormal aldolase level	1605	DAG1
HP:0004307	Abnormal anatomic location of the heart	78987	CRELD1
HP:0004307	Abnormal anatomic location of the heart	1954	MEGF8
HP:0004307	Abnormal anatomic location of the heart	10084	PQBP1
HP:0004307	Abnormal anatomic location of the heart	79600	TCTN1
HP:0006802	Abnormal anterior horn cell morphology	7443	VRK1
HP:0012303	Abnormal aortic arch morphology	78987	CRELD1
HP:0012303	Abnormal aortic arch morphology	6899	TBX1
HP:0001679	Abnormal aortic morphology	6736	SRY
HP:0001679	Abnormal aortic morphology	613	BCR
HP:0001679	Abnormal aortic morphology	78987	CRELD1
HP:0001679	Abnormal aortic morphology	2189	FANCG
HP:0001679	Abnormal aortic morphology	6899	TBX1
HP:0001679	Abnormal aortic morphology	10516	FBLN5
HP:0001679	Abnormal aortic morphology	57697	FANCM
HP:0001679	Abnormal aortic morphology	3949	LDLR
HP:0001679	Abnormal aortic morphology	79813	EHMT1
HP:0001679	Abnormal aortic morphology	2006	ELN
HP:0001679	Abnormal aortic morphology	9184	BUB3
HP:0001679	Abnormal aortic morphology	4091	SMAD6
HP:0031567	Abnormal aortic valve cusp morphology	126792	B3GALT6
HP:0031567	Abnormal aortic valve cusp morphology	6736	SRY
HP:0031567	Abnormal aortic valve cusp morphology	2006	ELN
HP:0031567	Abnormal aortic valve cusp morphology	1909	EDNRA
HP:0031567	Abnormal aortic valve cusp morphology	4091	SMAD6
HP:0001646	Abnormal aortic valve morphology	126792	B3GALT6
HP:0001646	Abnormal aortic valve morphology	6736	SRY
HP:0001646	Abnormal aortic valve morphology	57697	FANCM
HP:0001646	Abnormal aortic valve morphology	1909	EDNRA
HP:0001646	Abnormal aortic valve morphology	2189	FANCG
HP:0001646	Abnormal aortic valve morphology	2006	ELN
HP:0001646	Abnormal aortic valve morphology	6899	TBX1
HP:0001646	Abnormal aortic valve morphology	4091	SMAD6
HP:0031652	Abnormal aortic valve physiology	10516	FBLN5
HP:0031652	Abnormal aortic valve physiology	126792	B3GALT6
HP:0031652	Abnormal aortic valve physiology	613	BCR
HP:0031652	Abnormal aortic valve physiology	3949	LDLR
HP:0031652	Abnormal aortic valve physiology	9652	TTC37
HP:0031652	Abnormal aortic valve physiology	10682	EBP
HP:0031652	Abnormal aortic valve physiology	79813	EHMT1
HP:0031652	Abnormal aortic valve physiology	2006	ELN
HP:0031652	Abnormal aortic valve physiology	9184	BUB3
HP:0031652	Abnormal aortic valve physiology	4091	SMAD6
HP:0011844	Abnormal appendicular skeleton morphology	112752	IFT43
HP:0011844	Abnormal appendicular skeleton morphology	8318	CDC45
HP:0011844	Abnormal appendicular skeleton morphology	10370	CITED2
HP:0011844	Abnormal appendicular skeleton morphology	2189	FANCG
HP:0011844	Abnormal appendicular skeleton morphology	57492	ARID1B
HP:0011844	Abnormal appendicular skeleton morphology	6305	SBF1
HP:0011844	Abnormal appendicular skeleton morphology	2254	FGF9
HP:0011844	Abnormal appendicular skeleton morphology	10516	FBLN5
HP:0011844	Abnormal appendicular skeleton morphology	57697	FANCM
HP:0011844	Abnormal appendicular skeleton morphology	10617	STAMBP
HP:0011844	Abnormal appendicular skeleton morphology	4488	MSX2
HP:0011844	Abnormal appendicular skeleton morphology	10682	EBP
HP:0011844	Abnormal appendicular skeleton morphology	6660	SOX5
HP:0011844	Abnormal appendicular skeleton morphology	6736	SRY
HP:0011844	Abnormal appendicular skeleton morphology	613	BCR
HP:0011844	Abnormal appendicular skeleton morphology	2778	GNAS
HP:0011844	Abnormal appendicular skeleton morphology	6899	TBX1
HP:0011844	Abnormal appendicular skeleton morphology	23394	ADNP
HP:0011844	Abnormal appendicular skeleton morphology	9150	CTDP1
HP:0011844	Abnormal appendicular skeleton morphology	9184	BUB3
HP:0011844	Abnormal appendicular skeleton morphology	23522	KAT6B
HP:0011844	Abnormal appendicular skeleton morphology	5130	PCYT1A
HP:0011844	Abnormal appendicular skeleton morphology	1123	CHN1
HP:0011844	Abnormal appendicular skeleton morphology	9321	TRIP11
HP:0011844	Abnormal appendicular skeleton morphology	9361	LONP1
HP:0011844	Abnormal appendicular skeleton morphology	7486	WRN
HP:0011844	Abnormal appendicular skeleton morphology	25939	SAMHD1
HP:0011844	Abnormal appendicular skeleton morphology	3561	IL2RG
HP:0011844	Abnormal appendicular skeleton morphology	7681	MKRN3
HP:0011844	Abnormal appendicular skeleton morphology	9775	EIF4A3
HP:0011844	Abnormal appendicular skeleton morphology	118429	ANTXR2
HP:0011844	Abnormal appendicular skeleton morphology	83696	TRAPPC9
HP:0011844	Abnormal appendicular skeleton morphology	79600	TCTN1
HP:0011844	Abnormal appendicular skeleton morphology	83737	ITCH
HP:0011844	Abnormal appendicular skeleton morphology	5932	RBBP8
HP:0011844	Abnormal appendicular skeleton morphology	126792	B3GALT6
HP:0011844	Abnormal appendicular skeleton morphology	57167	SALL4
HP:0011844	Abnormal appendicular skeleton morphology	10084	PQBP1
HP:0011844	Abnormal appendicular skeleton morphology	1908	EDN3
HP:0011844	Abnormal appendicular skeleton morphology	6049	RNF6
HP:0011844	Abnormal appendicular skeleton morphology	1954	MEGF8
HP:0011844	Abnormal appendicular skeleton morphology	81846	SBF2
HP:0011844	Abnormal appendicular skeleton morphology	79813	EHMT1
HP:0011844	Abnormal appendicular skeleton morphology	2006	ELN
HP:0011844	Abnormal appendicular skeleton morphology	51199	NIN
HP:0011994	Abnormal atrial septum morphology	613	BCR
HP:0011994	Abnormal atrial septum morphology	1130	LYST
HP:0011994	Abnormal atrial septum morphology	8318	CDC45
HP:0011994	Abnormal atrial septum morphology	10370	CITED2
HP:0011994	Abnormal atrial septum morphology	2189	FANCG
HP:0011994	Abnormal atrial septum morphology	9361	LONP1
HP:0011994	Abnormal atrial septum morphology	57492	ARID1B
HP:0011994	Abnormal atrial septum morphology	6899	TBX1
HP:0011994	Abnormal atrial septum morphology	126792	B3GALT6
HP:0011994	Abnormal atrial septum morphology	57167	SALL4
HP:0011994	Abnormal atrial septum morphology	57697	FANCM
HP:0011994	Abnormal atrial septum morphology	10084	PQBP1
HP:0011994	Abnormal atrial septum morphology	10617	STAMBP
HP:0011994	Abnormal atrial septum morphology	1954	MEGF8
HP:0011994	Abnormal atrial septum morphology	2006	ELN
HP:0011994	Abnormal atrial septum morphology	9184	BUB3
HP:0011994	Abnormal atrial septum morphology	23522	KAT6B
HP:0005150	Abnormal atrioventricular conduction	781	CACNA2D1
HP:0006705	Abnormal atrioventricular valve morphology	2006	ELN
HP:0006705	Abnormal atrioventricular valve morphology	6899	TBX1
HP:0031650	Abnormal atrioventricular valve physiology	6660	SOX5
HP:0031650	Abnormal atrioventricular valve physiology	10516	FBLN5
HP:0031650	Abnormal atrioventricular valve physiology	1837	DTNA
HP:0031650	Abnormal atrioventricular valve physiology	126792	B3GALT6
HP:0031650	Abnormal atrioventricular valve physiology	2006	ELN
HP:0031650	Abnormal atrioventricular valve physiology	3949	LDLR
HP:0012331	Abnormal autonomic nervous system morphology	126792	B3GALT6
HP:0012331	Abnormal autonomic nervous system morphology	57167	SALL4
HP:0012331	Abnormal autonomic nervous system morphology	57697	FANCM
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3
HP:0012331	Abnormal autonomic nervous system morphology	2189	FANCG
HP:0012331	Abnormal autonomic nervous system morphology	79600	TCTN1
HP:0012331	Abnormal autonomic nervous system morphology	6899	TBX1
HP:0012332	Abnormal autonomic nervous system physiology	23534	TNPO3
HP:0009121	Abnormal axial skeleton morphology	8318	CDC45
HP:0009121	Abnormal axial skeleton morphology	57492	ARID1B
HP:0009121	Abnormal axial skeleton morphology	8516	ITGA8
HP:0009121	Abnormal axial skeleton morphology	57697	FANCM
HP:0009121	Abnormal axial skeleton morphology	4488	MSX2
HP:0009121	Abnormal axial skeleton morphology	613	BCR
HP:0009121	Abnormal axial skeleton morphology	4729	NDUFV2
HP:0009121	Abnormal axial skeleton morphology	811	CALR
HP:0009121	Abnormal axial skeleton morphology	283489	CHAMP1
HP:0009121	Abnormal axial skeleton morphology	9150	CTDP1
HP:0009121	Abnormal axial skeleton morphology	9184	BUB3
HP:0009121	Abnormal axial skeleton morphology	5119	CHMP1A
HP:0009121	Abnormal axial skeleton morphology	5130	PCYT1A
HP:0009121	Abnormal axial skeleton morphology	1123	CHN1
HP:0009121	Abnormal axial skeleton morphology	9321	TRIP11
HP:0009121	Abnormal axial skeleton morphology	9361	LONP1
HP:0009121	Abnormal axial skeleton morphology	9526	MPDU1
HP:0009121	Abnormal axial skeleton morphology	25939	SAMHD1
HP:0009121	Abnormal axial skeleton morphology	79188	TMEM43
HP:0009121	Abnormal axial skeleton morphology	9652	TTC37
HP:0009121	Abnormal axial skeleton morphology	1536	CYBB
HP:0009121	Abnormal axial skeleton morphology	54820	NDE1
HP:0009121	Abnormal axial skeleton morphology	9775	EIF4A3
HP:0009121	Abnormal axial skeleton morphology	1605	DAG1
HP:0009121	Abnormal axial skeleton morphology	5723	PSPH
HP:0009121	Abnormal axial skeleton morphology	83696	TRAPPC9
HP:0009121	Abnormal axial skeleton morphology	79600	TCTN1
HP:0009121	Abnormal axial skeleton morphology	83737	ITCH
HP:0009121	Abnormal axial skeleton morphology	5932	RBBP8
HP:0009121	Abnormal axial skeleton morphology	1861	TOR1A
HP:0009121	Abnormal axial skeleton morphology	10084	PQBP1
HP:0009121	Abnormal axial skeleton morphology	1909	EDNRA
HP:0009121	Abnormal axial skeleton morphology	1917	EEF1A2
HP:0009121	Abnormal axial skeleton morphology	55180	LINS1
HP:0009121	Abnormal axial skeleton morphology	6049	RNF6
HP:0009121	Abnormal axial skeleton morphology	1954	MEGF8
HP:0009121	Abnormal axial skeleton morphology	79813	EHMT1
HP:0009121	Abnormal axial skeleton morphology	2006	ELN
HP:0009121	Abnormal axial skeleton morphology	51199	NIN
HP:0009121	Abnormal axial skeleton morphology	10300	KATNB1
HP:0009121	Abnormal axial skeleton morphology	112752	IFT43
HP:0009121	Abnormal axial skeleton morphology	10370	CITED2
HP:0009121	Abnormal axial skeleton morphology	2189	FANCG
HP:0009121	Abnormal axial skeleton morphology	6305	SBF1
HP:0009121	Abnormal axial skeleton morphology	10516	FBLN5
HP:0009121	Abnormal axial skeleton morphology	6443	SGCB
HP:0009121	Abnormal axial skeleton morphology	80208	SPG11
HP:0009121	Abnormal axial skeleton morphology	6496	SIX3
HP:0009121	Abnormal axial skeleton morphology	10617	STAMBP
HP:0009121	Abnormal axial skeleton morphology	6575	SLC20A2
HP:0009121	Abnormal axial skeleton morphology	10682	EBP
HP:0009121	Abnormal axial skeleton morphology	51660	MPC1
HP:0009121	Abnormal axial skeleton morphology	6660	SOX5
HP:0009121	Abnormal axial skeleton morphology	113179	ADAT3
HP:0009121	Abnormal axial skeleton morphology	6687	SPG7
HP:0009121	Abnormal axial skeleton morphology	6736	SRY
HP:0009121	Abnormal axial skeleton morphology	2683	B4GALT1
HP:0009121	Abnormal axial skeleton morphology	2778	GNAS
HP:0009121	Abnormal axial skeleton morphology	2799	GNS
HP:0009121	Abnormal axial skeleton morphology	6899	TBX1
HP:0009121	Abnormal axial skeleton morphology	56262	LRRC8A
HP:0009121	Abnormal axial skeleton morphology	23522	KAT6B
HP:0009121	Abnormal axial skeleton morphology	60528	ELAC2
HP:0009121	Abnormal axial skeleton morphology	7341	SUMO1
HP:0009121	Abnormal axial skeleton morphology	7486	WRN
HP:0009121	Abnormal axial skeleton morphology	3426	CFI
HP:0009121	Abnormal axial skeleton morphology	100128927	ZBTB42
HP:0009121	Abnormal axial skeleton morphology	7546	ZIC2
HP:0009121	Abnormal axial skeleton morphology	3561	IL2RG
HP:0009121	Abnormal axial skeleton morphology	7681	MKRN3
HP:0009121	Abnormal axial skeleton morphology	118429	ANTXR2
HP:0009121	Abnormal axial skeleton morphology	3798	KIF5A
HP:0009121	Abnormal axial skeleton morphology	3908	LAMA2
HP:0009121	Abnormal axial skeleton morphology	126792	B3GALT6
HP:0009121	Abnormal axial skeleton morphology	57167	SALL4
HP:0009121	Abnormal axial skeleton morphology	81846	SBF2
HP:0012440	Abnormal biliary tract morphology	9361	LONP1
HP:0012440	Abnormal biliary tract morphology	23534	TNPO3
HP:0001892	Abnormal bleeding	5156	PDGFRA
HP:0001892	Abnormal bleeding	1130	LYST
HP:0001892	Abnormal bleeding	3257	HPS1
HP:0001892	Abnormal bleeding	2778	GNAS
HP:0001892	Abnormal bleeding	6899	TBX1
HP:0001892	Abnormal bleeding	811	CALR
HP:0001892	Abnormal bleeding	22852	ANKRD26
HP:0001892	Abnormal bleeding	80270	HSD3B7
HP:0001892	Abnormal bleeding	6575	SLC20A2
HP:0001892	Abnormal bleeding	2006	ELN
HP:0001892	Abnormal bleeding	23522	KAT6B
HP:0001892	Abnormal bleeding	4594	MUT
HP:0011849	Abnormal bone ossification	9321	TRIP11
HP:0011849	Abnormal bone ossification	112752	IFT43
HP:0011849	Abnormal bone ossification	2189	FANCG
HP:0011849	Abnormal bone ossification	9361	LONP1
HP:0011849	Abnormal bone ossification	10516	FBLN5
HP:0011849	Abnormal bone ossification	7486	WRN
HP:0011849	Abnormal bone ossification	57697	FANCM
HP:0011849	Abnormal bone ossification	80270	HSD3B7
HP:0011849	Abnormal bone ossification	10682	EBP
HP:0011849	Abnormal bone ossification	7681	MKRN3
HP:0011849	Abnormal bone ossification	6736	SRY
HP:0011849	Abnormal bone ossification	10892	MALT1
HP:0011849	Abnormal bone ossification	118429	ANTXR2
HP:0011849	Abnormal bone ossification	2778	GNAS
HP:0011849	Abnormal bone ossification	126792	B3GALT6
HP:0011849	Abnormal bone ossification	9150	CTDP1
HP:0011849	Abnormal bone ossification	2006	ELN
HP:0011849	Abnormal bone ossification	23534	TNPO3
HP:0003330	Abnormal bone structure	9321	TRIP11
HP:0003330	Abnormal bone structure	112752	IFT43
HP:0003330	Abnormal bone structure	2189	FANCG
HP:0003330	Abnormal bone structure	9361	LONP1
HP:0003330	Abnormal bone structure	10516	FBLN5
HP:0003330	Abnormal bone structure	7486	WRN
HP:0003330	Abnormal bone structure	57697	FANCM
HP:0003330	Abnormal bone structure	80270	HSD3B7
HP:0003330	Abnormal bone structure	10682	EBP
HP:0003330	Abnormal bone structure	7681	MKRN3
HP:0003330	Abnormal bone structure	6736	SRY
HP:0003330	Abnormal bone structure	10892	MALT1
HP:0003330	Abnormal bone structure	118429	ANTXR2
HP:0003330	Abnormal bone structure	2778	GNAS
HP:0003330	Abnormal bone structure	126792	B3GALT6
HP:0003330	Abnormal bone structure	9150	CTDP1
HP:0003330	Abnormal bone structure	2006	ELN
HP:0003330	Abnormal bone structure	9184	BUB3
HP:0003330	Abnormal bone structure	23534	TNPO3
HP:0012747	Abnormal brainstem MRI signal intensity	3908	LAMA2
HP:0011587	Abnormal branching pattern of the aortic arch	78987	CRELD1
HP:0011587	Abnormal branching pattern of the aortic arch	6899	TBX1
HP:0031093	Abnormal breast morphology	6736	SRY
HP:0031093	Abnormal breast morphology	7251	TSG101
HP:0031093	Abnormal breast morphology	8318	CDC45
HP:0031093	Abnormal breast morphology	57492	ARID1B
HP:0031093	Abnormal breast morphology	2778	GNAS
HP:0031093	Abnormal breast morphology	4361	MRE11
HP:0031093	Abnormal breast morphology	25913	POT1
HP:0031093	Abnormal breast morphology	7486	WRN
HP:0031093	Abnormal breast morphology	79719	AAGAB
HP:0031093	Abnormal breast morphology	1954	MEGF8
HP:0031093	Abnormal breast morphology	23522	KAT6B
HP:0031094	Abnormal breast physiology	2778	GNAS
HP:0025426	Abnormal bronchus morphology	79813	EHMT1
HP:0025426	Abnormal bronchus morphology	56262	LRRC8A
HP:0025426	Abnormal bronchus morphology	3561	IL2RG
HP:0009164	Abnormal calcification of the carpal bones	10682	EBP
HP:0005120	Abnormal cardiac atrium morphology	613	BCR
HP:0005120	Abnormal cardiac atrium morphology	1130	LYST
HP:0005120	Abnormal cardiac atrium morphology	8318	CDC45
HP:0005120	Abnormal cardiac atrium morphology	10370	CITED2
HP:0005120	Abnormal cardiac atrium morphology	2189	FANCG
HP:0005120	Abnormal cardiac atrium morphology	9361	LONP1
HP:0005120	Abnormal cardiac atrium morphology	57492	ARID1B
HP:0005120	Abnormal cardiac atrium morphology	6899	TBX1
HP:0005120	Abnormal cardiac atrium morphology	126792	B3GALT6
HP:0005120	Abnormal cardiac atrium morphology	57167	SALL4
HP:0005120	Abnormal cardiac atrium morphology	57697	FANCM
HP:0005120	Abnormal cardiac atrium morphology	10084	PQBP1
HP:0005120	Abnormal cardiac atrium morphology	10617	STAMBP
HP:0005120	Abnormal cardiac atrium morphology	1954	MEGF8
HP:0005120	Abnormal cardiac atrium morphology	2006	ELN
HP:0005120	Abnormal cardiac atrium morphology	9184	BUB3
HP:0005120	Abnormal cardiac atrium morphology	23522	KAT6B
HP:0001671	Abnormal cardiac septum morphology	613	BCR
HP:0001671	Abnormal cardiac septum morphology	1130	LYST
HP:0001671	Abnormal cardiac septum morphology	8318	CDC45
HP:0001671	Abnormal cardiac septum morphology	10370	CITED2
HP:0001671	Abnormal cardiac septum morphology	78987	CRELD1
HP:0001671	Abnormal cardiac septum morphology	2189	FANCG
HP:0001671	Abnormal cardiac septum morphology	9361	LONP1
HP:0001671	Abnormal cardiac septum morphology	57492	ARID1B
HP:0001671	Abnormal cardiac septum morphology	6899	TBX1
HP:0001671	Abnormal cardiac septum morphology	1837	DTNA
HP:0001671	Abnormal cardiac septum morphology	126792	B3GALT6
HP:0001671	Abnormal cardiac septum morphology	57167	SALL4
HP:0001671	Abnormal cardiac septum morphology	57697	FANCM
HP:0001671	Abnormal cardiac septum morphology	10084	PQBP1
HP:0001671	Abnormal cardiac septum morphology	10617	STAMBP
HP:0001671	Abnormal cardiac septum morphology	1954	MEGF8
HP:0001671	Abnormal cardiac septum morphology	9652	TTC37
HP:0001671	Abnormal cardiac septum morphology	79813	EHMT1
HP:0001671	Abnormal cardiac septum morphology	2006	ELN
HP:0001671	Abnormal cardiac septum morphology	9184	BUB3
HP:0001671	Abnormal cardiac septum morphology	23522	KAT6B
HP:0500015	Abnormal cardiac test	9992	KCNE2
HP:0500015	Abnormal cardiac test	781	CACNA2D1
HP:0500015	Abnormal cardiac test	3908	LAMA2
HP:0500015	Abnormal cardiac test	6736	SRY
HP:0500015	Abnormal cardiac test	79188	TMEM43
HP:0500015	Abnormal cardiac test	2778	GNAS
HP:0001713	Abnormal cardiac ventricle morphology	613	BCR
HP:0001713	Abnormal cardiac ventricle morphology	8318	CDC45
HP:0001713	Abnormal cardiac ventricle morphology	10370	CITED2
HP:0001713	Abnormal cardiac ventricle morphology	9361	LONP1
HP:0001713	Abnormal cardiac ventricle morphology	57492	ARID1B
HP:0001713	Abnormal cardiac ventricle morphology	2778	GNAS
HP:0001713	Abnormal cardiac ventricle morphology	6899	TBX1
HP:0001713	Abnormal cardiac ventricle morphology	57592	ZNF687
HP:0001713	Abnormal cardiac ventricle morphology	1837	DTNA
HP:0001713	Abnormal cardiac ventricle morphology	126792	B3GALT6
HP:0001713	Abnormal cardiac ventricle morphology	57167	SALL4
HP:0001713	Abnormal cardiac ventricle morphology	10084	PQBP1
HP:0001713	Abnormal cardiac ventricle morphology	3949	LDLR
HP:0001713	Abnormal cardiac ventricle morphology	10617	STAMBP
HP:0001713	Abnormal cardiac ventricle morphology	9652	TTC37
HP:0001713	Abnormal cardiac ventricle morphology	2006	ELN
HP:0001713	Abnormal cardiac ventricle morphology	9184	BUB3
HP:0001713	Abnormal cardiac ventricle morphology	23522	KAT6B
HP:0001713	Abnormal cardiac ventricle morphology	4091	SMAD6
HP:0030872	Abnormal cardiac ventricular function	3908	LAMA2
HP:0030872	Abnormal cardiac ventricular function	2006	ELN
HP:0030872	Abnormal cardiac ventricular function	3949	LDLR
HP:0005344	Abnormal carotid artery morphology	2189	FANCG
HP:0005344	Abnormal carotid artery morphology	2006	ELN
HP:0005344	Abnormal carotid artery morphology	57697	FANCM
HP:0005344	Abnormal carotid artery morphology	3949	LDLR
HP:0009145	Abnormal cerebral artery morphology	811	CALR
HP:0009145	Abnormal cerebral artery morphology	3949	LDLR
HP:0009145	Abnormal cerebral artery morphology	6575	SLC20A2
HP:0009145	Abnormal cerebral artery morphology	2006	ELN
HP:0000532	Abnormal chorioretinal morphology	1605	DAG1
HP:0000532	Abnormal chorioretinal morphology	57167	SALL4
HP:0000532	Abnormal chorioretinal morphology	1123	CHN1
HP:0000532	Abnormal chorioretinal morphology	6295	SAG
HP:0000532	Abnormal chorioretinal morphology	1181	CLCN2
HP:0000610	Abnormal choroid morphology	10516	FBLN5
HP:0000610	Abnormal choroid morphology	1605	DAG1
HP:0000610	Abnormal choroid morphology	57167	SALL4
HP:0000610	Abnormal choroid morphology	1123	CHN1
HP:0000610	Abnormal choroid morphology	6295	SAG
HP:0000610	Abnormal choroid morphology	1181	CLCN2
HP:0030347	Abnormal circulating androgen level	6736	SRY
HP:0025465	Abnormal circulating beta globulin level	7018	TF
HP:0025132	Abnormal circulating estrogen level	6736	SRY
HP:0025132	Abnormal circulating estrogen level	9150	CTDP1
HP:0030346	Abnormal circulating follicle-stimulating hormone level	6736	SRY
HP:0030338	Abnormal circulating gonadotropin level	6736	SRY
HP:0040215	Abnormal circulating insulin level	7681	MKRN3
HP:0040215	Abnormal circulating insulin level	5148	PDE6G
HP:0040215	Abnormal circulating insulin level	5506	PPP1R3A
HP:0040215	Abnormal circulating insulin level	346007	EYS
HP:0040215	Abnormal circulating insulin level	6295	SAG
HP:0040215	Abnormal circulating insulin level	64218	SEMA4A
HP:0030345	Abnormal circulating luteinizing hormone level	6736	SRY
HP:0000375	Abnormal cochlea morphology	124590	USH1G
HP:0000375	Abnormal cochlea morphology	10518	CIB2
HP:0040077	Abnormal concentration of calcium in blood	2006	ELN
HP:0040077	Abnormal concentration of calcium in blood	2778	GNAS
HP:0040077	Abnormal concentration of calcium in blood	6899	TBX1
HP:0000549	Abnormal conjugate eye movement	1123	CHN1
HP:0000549	Abnormal conjugate eye movement	1130	LYST
HP:0000549	Abnormal conjugate eye movement	8318	CDC45
HP:0000549	Abnormal conjugate eye movement	2189	FANCG
HP:0000549	Abnormal conjugate eye movement	9361	LONP1
HP:0000549	Abnormal conjugate eye movement	57492	ARID1B
HP:0000549	Abnormal conjugate eye movement	6295	SAG
HP:0000549	Abnormal conjugate eye movement	6305	SBF1
HP:0000549	Abnormal conjugate eye movement	9526	MPDU1
HP:0000549	Abnormal conjugate eye movement	57697	FANCM
HP:0000549	Abnormal conjugate eye movement	7681	MKRN3
HP:0000549	Abnormal conjugate eye movement	6660	SOX5
HP:0000549	Abnormal conjugate eye movement	113179	ADAT3
HP:0000549	Abnormal conjugate eye movement	4729	NDUFV2
HP:0000549	Abnormal conjugate eye movement	2778	GNAS
HP:0000549	Abnormal conjugate eye movement	79600	TCTN1
HP:0000549	Abnormal conjugate eye movement	6899	TBX1
HP:0000549	Abnormal conjugate eye movement	57167	SALL4
HP:0000549	Abnormal conjugate eye movement	23394	ADNP
HP:0000549	Abnormal conjugate eye movement	10084	PQBP1
HP:0000549	Abnormal conjugate eye movement	283489	CHAMP1
HP:0000549	Abnormal conjugate eye movement	9150	CTDP1
HP:0000549	Abnormal conjugate eye movement	2006	ELN
HP:0000549	Abnormal conjugate eye movement	23522	KAT6B
HP:0000549	Abnormal conjugate eye movement	5119	CHMP1A
HP:0011545	Abnormal connection of the cardiac segments	1954	MEGF8
HP:0011545	Abnormal connection of the cardiac segments	6899	TBX1
HP:0040202	Abnormal consumption behavior	7681	MKRN3
HP:0040202	Abnormal consumption behavior	2778	GNAS
HP:0006704	Abnormal coronary artery morphology	2006	ELN
HP:0006704	Abnormal coronary artery morphology	3949	LDLR
HP:0006704	Abnormal coronary artery morphology	57592	ZNF687
HP:0002536	Abnormal cortical gyration	54820	NDE1
HP:0002536	Abnormal cortical gyration	10300	KATNB1
HP:0002536	Abnormal cortical gyration	1605	DAG1
HP:0002536	Abnormal cortical gyration	27286	SRPX2
HP:0002536	Abnormal cortical gyration	79600	TCTN1
HP:0002536	Abnormal cortical gyration	3908	LAMA2
HP:0002536	Abnormal cortical gyration	23417	MLYCD
HP:0025429	Abnormal cry	3908	LAMA2
HP:0002963	Abnormal delayed hypersensitivity skin test	4261	CIITA
HP:0001787	Abnormal delivery	7486	WRN
HP:0007477	Abnormal dermatoglyphics	126792	B3GALT6
HP:0007477	Abnormal dermatoglyphics	57167	SALL4
HP:0007477	Abnormal dermatoglyphics	57492	ARID1B
HP:0007477	Abnormal dermatoglyphics	79813	EHMT1
HP:0007477	Abnormal dermatoglyphics	2254	FGF9
HP:0007477	Abnormal dermatoglyphics	2006	ELN
HP:0007477	Abnormal dermatoglyphics	23522	KAT6B
HP:0000940	Abnormal diaphysis morphology	5130	PCYT1A
HP:0000940	Abnormal diaphysis morphology	613	BCR
HP:0000940	Abnormal diaphysis morphology	112752	IFT43
HP:0000940	Abnormal diaphysis morphology	8318	CDC45
HP:0000940	Abnormal diaphysis morphology	9361	LONP1
HP:0000940	Abnormal diaphysis morphology	118429	ANTXR2
HP:0000940	Abnormal diaphysis morphology	2778	GNAS
HP:0000940	Abnormal diaphysis morphology	126792	B3GALT6
HP:0000940	Abnormal diaphysis morphology	1954	MEGF8
HP:0000940	Abnormal diaphysis morphology	2006	ELN
HP:0031703	Abnormal ear morphology	8318	CDC45
HP:0031703	Abnormal ear morphology	2189	FANCG
HP:0031703	Abnormal ear morphology	57492	ARID1B
HP:0031703	Abnormal ear morphology	6295	SAG
HP:0031703	Abnormal ear morphology	2254	FGF9
HP:0031703	Abnormal ear morphology	84189	SLITRK6
HP:0031703	Abnormal ear morphology	10518	CIB2
HP:0031703	Abnormal ear morphology	8516	ITGA8
HP:0031703	Abnormal ear morphology	57697	FANCM
HP:0031703	Abnormal ear morphology	10617	STAMBP
HP:0031703	Abnormal ear morphology	4488	MSX2
HP:0031703	Abnormal ear morphology	10682	EBP
HP:0031703	Abnormal ear morphology	4607	MYBPC3
HP:0031703	Abnormal ear morphology	6660	SOX5
HP:0031703	Abnormal ear morphology	4646	MYO6
HP:0031703	Abnormal ear morphology	152137	CCDC50
HP:0031703	Abnormal ear morphology	6736	SRY
HP:0031703	Abnormal ear morphology	613	BCR
HP:0031703	Abnormal ear morphology	4729	NDUFV2
HP:0031703	Abnormal ear morphology	2778	GNAS
HP:0031703	Abnormal ear morphology	64218	SEMA4A
HP:0031703	Abnormal ear morphology	2799	GNS
HP:0031703	Abnormal ear morphology	6899	TBX1
HP:0031703	Abnormal ear morphology	375611	SLC26A5
HP:0031703	Abnormal ear morphology	283489	CHAMP1
HP:0031703	Abnormal ear morphology	56262	LRRC8A
HP:0031703	Abnormal ear morphology	9184	BUB3
HP:0031703	Abnormal ear morphology	23522	KAT6B
HP:0031703	Abnormal ear morphology	5130	PCYT1A
HP:0031703	Abnormal ear morphology	5148	PDE6G
HP:0031703	Abnormal ear morphology	1123	CHN1
HP:0031703	Abnormal ear morphology	9361	LONP1
HP:0031703	Abnormal ear morphology	3426	CFI
HP:0031703	Abnormal ear morphology	7546	ZIC2
HP:0031703	Abnormal ear morphology	9652	TTC37
HP:0031703	Abnormal ear morphology	3561	IL2RG
HP:0031703	Abnormal ear morphology	1536	CYBB
HP:0031703	Abnormal ear morphology	54820	NDE1
HP:0031703	Abnormal ear morphology	9775	EIF4A3
HP:0031703	Abnormal ear morphology	1605	DAG1
HP:0031703	Abnormal ear morphology	124590	USH1G
HP:0031703	Abnormal ear morphology	83696	TRAPPC9
HP:0031703	Abnormal ear morphology	79600	TCTN1
HP:0031703	Abnormal ear morphology	83737	ITCH
HP:0031703	Abnormal ear morphology	5932	RBBP8
HP:0031703	Abnormal ear morphology	57167	SALL4
HP:0031703	Abnormal ear morphology	10084	PQBP1
HP:0031703	Abnormal ear morphology	1908	EDN3
HP:0031703	Abnormal ear morphology	1909	EDNRA
HP:0031703	Abnormal ear morphology	1917	EEF1A2
HP:0031703	Abnormal ear morphology	346007	EYS
HP:0031703	Abnormal ear morphology	1954	MEGF8
HP:0031703	Abnormal ear morphology	81846	SBF2
HP:0031703	Abnormal ear morphology	79813	EHMT1
HP:0031703	Abnormal ear morphology	2006	ELN
HP:0031703	Abnormal ear morphology	51199	NIN
HP:0031704	Abnormal ear physiology	8318	CDC45
HP:0031704	Abnormal ear physiology	2189	FANCG
HP:0031704	Abnormal ear physiology	57492	ARID1B
HP:0031704	Abnormal ear physiology	6295	SAG
HP:0031704	Abnormal ear physiology	2254	FGF9
HP:0031704	Abnormal ear physiology	84189	SLITRK6
HP:0031704	Abnormal ear physiology	10518	CIB2
HP:0031704	Abnormal ear physiology	57697	FANCM
HP:0031704	Abnormal ear physiology	10617	STAMBP
HP:0031704	Abnormal ear physiology	10682	EBP
HP:0031704	Abnormal ear physiology	4607	MYBPC3
HP:0031704	Abnormal ear physiology	4646	MYO6
HP:0031704	Abnormal ear physiology	152137	CCDC50
HP:0031704	Abnormal ear physiology	6736	SRY
HP:0031704	Abnormal ear physiology	613	BCR
HP:0031704	Abnormal ear physiology	4729	NDUFV2
HP:0031704	Abnormal ear physiology	2778	GNAS
HP:0031704	Abnormal ear physiology	64218	SEMA4A
HP:0031704	Abnormal ear physiology	2799	GNS
HP:0031704	Abnormal ear physiology	6899	TBX1
HP:0031704	Abnormal ear physiology	375611	SLC26A5
HP:0031704	Abnormal ear physiology	9184	BUB3
HP:0031704	Abnormal ear physiology	23522	KAT6B
HP:0031704	Abnormal ear physiology	5130	PCYT1A
HP:0031704	Abnormal ear physiology	5148	PDE6G
HP:0031704	Abnormal ear physiology	1123	CHN1
HP:0031704	Abnormal ear physiology	60528	ELAC2
HP:0031704	Abnormal ear physiology	9361	LONP1
HP:0031704	Abnormal ear physiology	124590	USH1G
HP:0031704	Abnormal ear physiology	57167	SALL4
HP:0031704	Abnormal ear physiology	10084	PQBP1
HP:0031704	Abnormal ear physiology	1908	EDN3
HP:0031704	Abnormal ear physiology	1909	EDNRA
HP:0031704	Abnormal ear physiology	346007	EYS
HP:0031704	Abnormal ear physiology	1954	MEGF8
HP:0031704	Abnormal ear physiology	81846	SBF2
HP:0031704	Abnormal ear physiology	79813	EHMT1
HP:0031704	Abnormal ear physiology	2006	ELN
HP:0100738	Abnormal eating behavior	7681	MKRN3
HP:0100738	Abnormal eating behavior	2778	GNAS
HP:0003116	Abnormal echocardiogram	3908	LAMA2
HP:0010647	Abnormal elasticity of skin	10516	FBLN5
HP:0010647	Abnormal elasticity of skin	7486	WRN
HP:0010647	Abnormal elasticity of skin	126792	B3GALT6
HP:0010647	Abnormal elasticity of skin	112752	IFT43
HP:0010647	Abnormal elasticity of skin	2934	GSN
HP:0010647	Abnormal elasticity of skin	57492	ARID1B
HP:0010647	Abnormal elasticity of skin	1954	MEGF8
HP:0010647	Abnormal elasticity of skin	2006	ELN
HP:0010647	Abnormal elasticity of skin	2778	GNAS
HP:0000512	Abnormal electroretinogram	5130	PCYT1A
HP:0000512	Abnormal electroretinogram	10518	CIB2
HP:0000512	Abnormal electroretinogram	5148	PDE6G
HP:0000512	Abnormal electroretinogram	346007	EYS
HP:0000512	Abnormal electroretinogram	6295	SAG
HP:0000512	Abnormal electroretinogram	124590	USH1G
HP:0000512	Abnormal electroretinogram	64218	SEMA4A
HP:0100851	Abnormal emotion/affect behavior	6660	SOX5
HP:0100851	Abnormal emotion/affect behavior	54820	NDE1
HP:0100851	Abnormal emotion/affect behavior	57492	ARID1B
HP:0100851	Abnormal emotion/affect behavior	2778	GNAS
HP:0100851	Abnormal emotion/affect behavior	6899	TBX1
HP:0100851	Abnormal emotion/affect behavior	288	ANK3
HP:0100851	Abnormal emotion/affect behavior	5932	RBBP8
HP:0100851	Abnormal emotion/affect behavior	25939	SAMHD1
HP:0100851	Abnormal emotion/affect behavior	1917	EEF1A2
HP:0100851	Abnormal emotion/affect behavior	55180	LINS1
HP:0100851	Abnormal emotion/affect behavior	445	ASS1
HP:0100851	Abnormal emotion/affect behavior	79813	EHMT1
HP:0003336	Abnormal enchondral ossification	126792	B3GALT6
HP:0003336	Abnormal enchondral ossification	9321	TRIP11
HP:0003336	Abnormal enchondral ossification	9361	LONP1
HP:0003336	Abnormal enchondral ossification	10682	EBP
HP:0004306	Abnormal endocardium morphology	2006	ELN
HP:0004306	Abnormal endocardium morphology	5156	PDGFRA
HP:0012379	Abnormal enzyme/coenzyme activity	1605	DAG1
HP:0012379	Abnormal enzyme/coenzyme activity	23534	TNPO3
HP:0012379	Abnormal enzyme/coenzyme activity	57592	ZNF687
HP:0010656	Abnormal epiphyseal ossification	126792	B3GALT6
HP:0010656	Abnormal epiphyseal ossification	10682	EBP
HP:0001877	Abnormal erythrocyte morphology	5156	PDGFRA
HP:0001877	Abnormal erythrocyte morphology	1130	LYST
HP:0001877	Abnormal erythrocyte morphology	5230	PGK1
HP:0001877	Abnormal erythrocyte morphology	2189	FANCG
HP:0001877	Abnormal erythrocyte morphology	55532	SLC30A10
HP:0001877	Abnormal erythrocyte morphology	57697	FANCM
HP:0001877	Abnormal erythrocyte morphology	29071	C1GALT1C1
HP:0001877	Abnormal erythrocyte morphology	3561	IL2RG
HP:0001877	Abnormal erythrocyte morphology	4594	MUT
HP:0001877	Abnormal erythrocyte morphology	10841	FTCD
HP:0001877	Abnormal erythrocyte morphology	10892	MALT1
HP:0001877	Abnormal erythrocyte morphology	7018	TF
HP:0001877	Abnormal erythrocyte morphology	51128	SAR1B
HP:0001877	Abnormal erythrocyte morphology	7128	TNFAIP3
HP:0000811	Abnormal external genitalia	8287	USP9Y
HP:0000811	Abnormal external genitalia	8318	CDC45
HP:0000811	Abnormal external genitalia	10370	CITED2
HP:0000811	Abnormal external genitalia	2189	FANCG
HP:0000811	Abnormal external genitalia	57492	ARID1B
HP:0000811	Abnormal external genitalia	6295	SAG
HP:0000811	Abnormal external genitalia	57697	FANCM
HP:0000811	Abnormal external genitalia	10682	EBP
HP:0000811	Abnormal external genitalia	6736	SRY
HP:0000811	Abnormal external genitalia	2778	GNAS
HP:0000811	Abnormal external genitalia	64218	SEMA4A
HP:0000811	Abnormal external genitalia	6899	TBX1
HP:0000811	Abnormal external genitalia	9150	CTDP1
HP:0000811	Abnormal external genitalia	9184	BUB3
HP:0000811	Abnormal external genitalia	23522	KAT6B
HP:0000811	Abnormal external genitalia	5148	PDE6G
HP:0000811	Abnormal external genitalia	9361	LONP1
HP:0000811	Abnormal external genitalia	7486	WRN
HP:0000811	Abnormal external genitalia	7681	MKRN3
HP:0000811	Abnormal external genitalia	1605	DAG1
HP:0000811	Abnormal external genitalia	5932	RBBP8
HP:0000811	Abnormal external genitalia	126792	B3GALT6
HP:0000811	Abnormal external genitalia	10084	PQBP1
HP:0000811	Abnormal external genitalia	346007	EYS
HP:0000811	Abnormal external genitalia	1954	MEGF8
HP:0000811	Abnormal external genitalia	79813	EHMT1
HP:0000811	Abnormal external genitalia	2006	ELN
HP:0012372	Abnormal eye morphology	8318	CDC45
HP:0012372	Abnormal eye morphology	57492	ARID1B
HP:0012372	Abnormal eye morphology	8516	ITGA8
HP:0012372	Abnormal eye morphology	57697	FANCM
HP:0012372	Abnormal eye morphology	4488	MSX2
HP:0012372	Abnormal eye morphology	410	ARSA
HP:0012372	Abnormal eye morphology	4594	MUT
HP:0012372	Abnormal eye morphology	4646	MYO6
HP:0012372	Abnormal eye morphology	613	BCR
HP:0012372	Abnormal eye morphology	4729	NDUFV2
HP:0012372	Abnormal eye morphology	9150	CTDP1
HP:0012372	Abnormal eye morphology	9184	BUB3
HP:0012372	Abnormal eye morphology	5119	CHMP1A
HP:0012372	Abnormal eye morphology	5130	PCYT1A
HP:0012372	Abnormal eye morphology	5148	PDE6G
HP:0012372	Abnormal eye morphology	1123	CHN1
HP:0012372	Abnormal eye morphology	1130	LYST
HP:0012372	Abnormal eye morphology	5230	PGK1
HP:0012372	Abnormal eye morphology	9361	LONP1
HP:0012372	Abnormal eye morphology	1181	CLCN2
HP:0012372	Abnormal eye morphology	9526	MPDU1
HP:0012372	Abnormal eye morphology	25913	POT1
HP:0012372	Abnormal eye morphology	30062	RAX
HP:0012372	Abnormal eye morphology	1414	CRYBB1
HP:0012372	Abnormal eye morphology	1421	CRYGD
HP:0012372	Abnormal eye morphology	9652	TTC37
HP:0012372	Abnormal eye morphology	54820	NDE1
HP:0012372	Abnormal eye morphology	1605	DAG1
HP:0012372	Abnormal eye morphology	124590	USH1G
HP:0012372	Abnormal eye morphology	83696	TRAPPC9
HP:0012372	Abnormal eye morphology	79600	TCTN1
HP:0012372	Abnormal eye morphology	83737	ITCH
HP:0012372	Abnormal eye morphology	5932	RBBP8
HP:0012372	Abnormal eye morphology	10084	PQBP1
HP:0012372	Abnormal eye morphology	1908	EDN3
HP:0012372	Abnormal eye morphology	1917	EEF1A2
HP:0012372	Abnormal eye morphology	346007	EYS
HP:0012372	Abnormal eye morphology	1954	MEGF8
HP:0012372	Abnormal eye morphology	51128	SAR1B
HP:0012372	Abnormal eye morphology	79813	EHMT1
HP:0012372	Abnormal eye morphology	2006	ELN
HP:0012372	Abnormal eye morphology	51199	NIN
HP:0012372	Abnormal eye morphology	112752	IFT43
HP:0012372	Abnormal eye morphology	10370	CITED2
HP:0012372	Abnormal eye morphology	2189	FANCG
HP:0012372	Abnormal eye morphology	6295	SAG
HP:0012372	Abnormal eye morphology	10516	FBLN5
HP:0012372	Abnormal eye morphology	10518	CIB2
HP:0012372	Abnormal eye morphology	80208	SPG11
HP:0012372	Abnormal eye morphology	6496	SIX3
HP:0012372	Abnormal eye morphology	10617	STAMBP
HP:0012372	Abnormal eye morphology	6575	SLC20A2
HP:0012372	Abnormal eye morphology	10682	EBP
HP:0012372	Abnormal eye morphology	6660	SOX5
HP:0012372	Abnormal eye morphology	6687	SPG7
HP:0012372	Abnormal eye morphology	10892	MALT1
HP:0012372	Abnormal eye morphology	2778	GNAS
HP:0012372	Abnormal eye morphology	64218	SEMA4A
HP:0012372	Abnormal eye morphology	6899	TBX1
HP:0012372	Abnormal eye morphology	2934	GSN
HP:0012372	Abnormal eye morphology	56262	LRRC8A
HP:0012372	Abnormal eye morphology	7128	TNFAIP3
HP:0012372	Abnormal eye morphology	23522	KAT6B
HP:0012372	Abnormal eye morphology	3257	HPS1
HP:0012372	Abnormal eye morphology	7486	WRN
HP:0012372	Abnormal eye morphology	7546	ZIC2
HP:0012372	Abnormal eye morphology	7681	MKRN3
HP:0012372	Abnormal eye morphology	126792	B3GALT6
HP:0012372	Abnormal eye morphology	57167	SALL4
HP:0012372	Abnormal eye morphology	3949	LDLR
HP:0012372	Abnormal eye morphology	4023	LPL
HP:0012372	Abnormal eye morphology	4047	LSS
HP:0012373	Abnormal eye physiology	8318	CDC45
HP:0012373	Abnormal eye physiology	57492	ARID1B
HP:0012373	Abnormal eye physiology	4361	MRE11
HP:0012373	Abnormal eye physiology	57697	FANCM
HP:0012373	Abnormal eye physiology	4488	MSX2
HP:0012373	Abnormal eye physiology	4646	MYO6
HP:0012373	Abnormal eye physiology	613	BCR
HP:0012373	Abnormal eye physiology	4729	NDUFV2
HP:0012373	Abnormal eye physiology	8913	CACNA1G
HP:0012373	Abnormal eye physiology	811	CALR
HP:0012373	Abnormal eye physiology	283489	CHAMP1
HP:0012373	Abnormal eye physiology	9150	CTDP1
HP:0012373	Abnormal eye physiology	9184	BUB3
HP:0012373	Abnormal eye physiology	5119	CHMP1A
HP:0012373	Abnormal eye physiology	5130	PCYT1A
HP:0012373	Abnormal eye physiology	5148	PDE6G
HP:0012373	Abnormal eye physiology	1123	CHN1
HP:0012373	Abnormal eye physiology	1130	LYST
HP:0012373	Abnormal eye physiology	5230	PGK1
HP:0012373	Abnormal eye physiology	9361	LONP1
HP:0012373	Abnormal eye physiology	1181	CLCN2
HP:0012373	Abnormal eye physiology	9526	MPDU1
HP:0012373	Abnormal eye physiology	25939	SAMHD1
HP:0012373	Abnormal eye physiology	1414	CRYBB1
HP:0012373	Abnormal eye physiology	1421	CRYGD
HP:0012373	Abnormal eye physiology	1536	CYBB
HP:0012373	Abnormal eye physiology	1605	DAG1
HP:0012373	Abnormal eye physiology	124590	USH1G
HP:0012373	Abnormal eye physiology	83696	TRAPPC9
HP:0012373	Abnormal eye physiology	79600	TCTN1
HP:0012373	Abnormal eye physiology	9997	SCO2
HP:0012373	Abnormal eye physiology	5932	RBBP8
HP:0012373	Abnormal eye physiology	10084	PQBP1
HP:0012373	Abnormal eye physiology	1908	EDN3
HP:0012373	Abnormal eye physiology	346007	EYS
HP:0012373	Abnormal eye physiology	51128	SAR1B
HP:0012373	Abnormal eye physiology	255928	SYT14
HP:0012373	Abnormal eye physiology	2006	ELN
HP:0012373	Abnormal eye physiology	112752	IFT43
HP:0012373	Abnormal eye physiology	2189	FANCG
HP:0012373	Abnormal eye physiology	6295	SAG
HP:0012373	Abnormal eye physiology	6305	SBF1
HP:0012373	Abnormal eye physiology	84189	SLITRK6
HP:0012373	Abnormal eye physiology	10516	FBLN5
HP:0012373	Abnormal eye physiology	10518	CIB2
HP:0012373	Abnormal eye physiology	80208	SPG11
HP:0012373	Abnormal eye physiology	10617	STAMBP
HP:0012373	Abnormal eye physiology	80270	HSD3B7
HP:0012373	Abnormal eye physiology	10682	EBP
HP:0012373	Abnormal eye physiology	51660	MPC1
HP:0012373	Abnormal eye physiology	6660	SOX5
HP:0012373	Abnormal eye physiology	113179	ADAT3
HP:0012373	Abnormal eye physiology	6687	SPG7
HP:0012373	Abnormal eye physiology	6736	SRY
HP:0012373	Abnormal eye physiology	10892	MALT1
HP:0012373	Abnormal eye physiology	2778	GNAS
HP:0012373	Abnormal eye physiology	64218	SEMA4A
HP:0012373	Abnormal eye physiology	6899	TBX1
HP:0012373	Abnormal eye physiology	23394	ADNP
HP:0012373	Abnormal eye physiology	56262	LRRC8A
HP:0012373	Abnormal eye physiology	7128	TNFAIP3
HP:0012373	Abnormal eye physiology	23522	KAT6B
HP:0012373	Abnormal eye physiology	3257	HPS1
HP:0012373	Abnormal eye physiology	7681	MKRN3
HP:0012373	Abnormal eye physiology	3798	KIF5A
HP:0012373	Abnormal eye physiology	7957	EPM2A
HP:0012373	Abnormal eye physiology	3908	LAMA2
HP:0012373	Abnormal eye physiology	126792	B3GALT6
HP:0012373	Abnormal eye physiology	57167	SALL4
HP:0012373	Abnormal eye physiology	3949	LDLR
HP:0012373	Abnormal eye physiology	81846	SBF2
HP:0012373	Abnormal eye physiology	4047	LSS
HP:0000534	Abnormal eyebrow morphology	613	BCR
HP:0000534	Abnormal eyebrow morphology	8318	CDC45
HP:0000534	Abnormal eyebrow morphology	57492	ARID1B
HP:0000534	Abnormal eyebrow morphology	2799	GNS
HP:0000534	Abnormal eyebrow morphology	83696	TRAPPC9
HP:0000534	Abnormal eyebrow morphology	79600	TCTN1
HP:0000534	Abnormal eyebrow morphology	126792	B3GALT6
HP:0000534	Abnormal eyebrow morphology	10084	PQBP1
HP:0000534	Abnormal eyebrow morphology	1908	EDN3
HP:0000534	Abnormal eyebrow morphology	1909	EDNRA
HP:0000534	Abnormal eyebrow morphology	7546	ZIC2
HP:0000534	Abnormal eyebrow morphology	1954	MEGF8
HP:0000534	Abnormal eyebrow morphology	10682	EBP
HP:0000534	Abnormal eyebrow morphology	79813	EHMT1
HP:0000534	Abnormal eyebrow morphology	2006	ELN
HP:0000534	Abnormal eyebrow morphology	3561	IL2RG
HP:0000492	Abnormal eyelid morphology	112752	IFT43
HP:0000492	Abnormal eyelid morphology	2189	FANCG
HP:0000492	Abnormal eyelid morphology	57492	ARID1B
HP:0000492	Abnormal eyelid morphology	8516	ITGA8
HP:0000492	Abnormal eyelid morphology	57697	FANCM
HP:0000492	Abnormal eyelid morphology	10682	EBP
HP:0000492	Abnormal eyelid morphology	51660	MPC1
HP:0000492	Abnormal eyelid morphology	6660	SOX5
HP:0000492	Abnormal eyelid morphology	6736	SRY
HP:0000492	Abnormal eyelid morphology	613	BCR
HP:0000492	Abnormal eyelid morphology	6899	TBX1
HP:0000492	Abnormal eyelid morphology	23394	ADNP
HP:0000492	Abnormal eyelid morphology	283489	CHAMP1
HP:0000492	Abnormal eyelid morphology	9150	CTDP1
HP:0000492	Abnormal eyelid morphology	56262	LRRC8A
HP:0000492	Abnormal eyelid morphology	9184	BUB3
HP:0000492	Abnormal eyelid morphology	23522	KAT6B
HP:0000492	Abnormal eyelid morphology	1123	CHN1
HP:0000492	Abnormal eyelid morphology	9361	LONP1
HP:0000492	Abnormal eyelid morphology	25939	SAMHD1
HP:0000492	Abnormal eyelid morphology	30062	RAX
HP:0000492	Abnormal eyelid morphology	7546	ZIC2
HP:0000492	Abnormal eyelid morphology	9652	TTC37
HP:0000492	Abnormal eyelid morphology	7681	MKRN3
HP:0000492	Abnormal eyelid morphology	83696	TRAPPC9
HP:0000492	Abnormal eyelid morphology	5932	RBBP8
HP:0000492	Abnormal eyelid morphology	1861	TOR1A
HP:0000492	Abnormal eyelid morphology	126792	B3GALT6
HP:0000492	Abnormal eyelid morphology	57167	SALL4
HP:0000492	Abnormal eyelid morphology	10084	PQBP1
HP:0000492	Abnormal eyelid morphology	3949	LDLR
HP:0000492	Abnormal eyelid morphology	1908	EDN3
HP:0000492	Abnormal eyelid morphology	1909	EDNRA
HP:0000492	Abnormal eyelid morphology	1917	EEF1A2
HP:0000492	Abnormal eyelid morphology	1954	MEGF8
HP:0000492	Abnormal eyelid morphology	4023	LPL
HP:0000492	Abnormal eyelid morphology	79813	EHMT1
HP:0000492	Abnormal eyelid morphology	2006	ELN
HP:0005346	Abnormal facial expression	6575	SLC20A2
HP:0005346	Abnormal facial expression	3908	LAMA2
HP:0001999	Abnormal facial shape	1123	CHN1
HP:0001999	Abnormal facial shape	9321	TRIP11
HP:0001999	Abnormal facial shape	2189	FANCG
HP:0001999	Abnormal facial shape	9361	LONP1
HP:0001999	Abnormal facial shape	57492	ARID1B
HP:0001999	Abnormal facial shape	2254	FGF9
HP:0001999	Abnormal facial shape	7486	WRN
HP:0001999	Abnormal facial shape	8516	ITGA8
HP:0001999	Abnormal facial shape	57697	FANCM
HP:0001999	Abnormal facial shape	7546	ZIC2
HP:0001999	Abnormal facial shape	10682	EBP
HP:0001999	Abnormal facial shape	6660	SOX5
HP:0001999	Abnormal facial shape	613	BCR
HP:0001999	Abnormal facial shape	118429	ANTXR2
HP:0001999	Abnormal facial shape	2778	GNAS
HP:0001999	Abnormal facial shape	2799	GNS
HP:0001999	Abnormal facial shape	83696	TRAPPC9
HP:0001999	Abnormal facial shape	79600	TCTN1
HP:0001999	Abnormal facial shape	6899	TBX1
HP:0001999	Abnormal facial shape	83737	ITCH
HP:0001999	Abnormal facial shape	5932	RBBP8
HP:0001999	Abnormal facial shape	126792	B3GALT6
HP:0001999	Abnormal facial shape	57167	SALL4
HP:0001999	Abnormal facial shape	10084	PQBP1
HP:0001999	Abnormal facial shape	283489	CHAMP1
HP:0001999	Abnormal facial shape	1909	EDNRA
HP:0001999	Abnormal facial shape	9150	CTDP1
HP:0001999	Abnormal facial shape	79813	EHMT1
HP:0001999	Abnormal facial shape	2006	ELN
HP:0001999	Abnormal facial shape	9184	BUB3
HP:0001999	Abnormal facial shape	23522	KAT6B
HP:0100852	Abnormal fear/anxiety-related behavior	6660	SOX5
HP:0100852	Abnormal fear/anxiety-related behavior	124590	USH1G
HP:0100852	Abnormal fear/anxiety-related behavior	2778	GNAS
HP:0100852	Abnormal fear/anxiety-related behavior	6899	TBX1
HP:0100852	Abnormal fear/anxiety-related behavior	10518	CIB2
HP:0100852	Abnormal fear/anxiety-related behavior	1861	TOR1A
HP:0100852	Abnormal fear/anxiety-related behavior	10084	PQBP1
HP:0100852	Abnormal fear/anxiety-related behavior	79813	EHMT1
HP:0100852	Abnormal fear/anxiety-related behavior	2006	ELN
HP:0006143	Abnormal finger flexion creases	5932	RBBP8
HP:0010675	Abnormal foot bone ossification	9321	TRIP11
HP:0010675	Abnormal foot bone ossification	10682	EBP
HP:0003312	Abnormal form of the vertebral bodies	6660	SOX5
HP:0003312	Abnormal form of the vertebral bodies	5130	PCYT1A
HP:0003312	Abnormal form of the vertebral bodies	1123	CHN1
HP:0003312	Abnormal form of the vertebral bodies	9361	LONP1
HP:0003312	Abnormal form of the vertebral bodies	2799	GNS
HP:0003312	Abnormal form of the vertebral bodies	79600	TCTN1
HP:0003312	Abnormal form of the vertebral bodies	126792	B3GALT6
HP:0003312	Abnormal form of the vertebral bodies	10682	EBP
HP:0003312	Abnormal form of the vertebral bodies	2006	ELN
HP:0030466	Abnormal full-field electroretinogram	6295	SAG
HP:0001098	Abnormal fundus morphology	6295	SAG
HP:0001098	Abnormal fundus morphology	10516	FBLN5
HP:0001098	Abnormal fundus morphology	10518	CIB2
HP:0001098	Abnormal fundus morphology	80208	SPG11
HP:0001098	Abnormal fundus morphology	10617	STAMBP
HP:0001098	Abnormal fundus morphology	410	ARSA
HP:0001098	Abnormal fundus morphology	10682	EBP
HP:0001098	Abnormal fundus morphology	4594	MUT
HP:0001098	Abnormal fundus morphology	6660	SOX5
HP:0001098	Abnormal fundus morphology	6687	SPG7
HP:0001098	Abnormal fundus morphology	4646	MYO6
HP:0001098	Abnormal fundus morphology	4729	NDUFV2
HP:0001098	Abnormal fundus morphology	2778	GNAS
HP:0001098	Abnormal fundus morphology	64218	SEMA4A
HP:0001098	Abnormal fundus morphology	6899	TBX1
HP:0001098	Abnormal fundus morphology	5130	PCYT1A
HP:0001098	Abnormal fundus morphology	5148	PDE6G
HP:0001098	Abnormal fundus morphology	1123	CHN1
HP:0001098	Abnormal fundus morphology	1130	LYST
HP:0001098	Abnormal fundus morphology	5230	PGK1
HP:0001098	Abnormal fundus morphology	1181	CLCN2
HP:0001098	Abnormal fundus morphology	3257	HPS1
HP:0001098	Abnormal fundus morphology	9526	MPDU1
HP:0001098	Abnormal fundus morphology	25913	POT1
HP:0001098	Abnormal fundus morphology	7486	WRN
HP:0001098	Abnormal fundus morphology	1605	DAG1
HP:0001098	Abnormal fundus morphology	124590	USH1G
HP:0001098	Abnormal fundus morphology	83696	TRAPPC9
HP:0001098	Abnormal fundus morphology	57167	SALL4
HP:0001098	Abnormal fundus morphology	3949	LDLR
HP:0001098	Abnormal fundus morphology	1908	EDN3
HP:0001098	Abnormal fundus morphology	346007	EYS
HP:0001098	Abnormal fundus morphology	4023	LPL
HP:0001098	Abnormal fundus morphology	51128	SAR1B
HP:0001098	Abnormal fundus morphology	2006	ELN
HP:0012437	Abnormal gallbladder morphology	2006	ELN
HP:0012437	Abnormal gallbladder morphology	6899	TBX1
HP:0012438	Abnormal gallbladder physiology	410	ARSA
HP:0030895	Abnormal gastrointestinal motility	10516	FBLN5
HP:0030895	Abnormal gastrointestinal motility	4842	NOS1
HP:0012374	Abnormal globe morphology	8318	CDC45
HP:0012374	Abnormal globe morphology	57492	ARID1B
HP:0012374	Abnormal globe morphology	8516	ITGA8
HP:0012374	Abnormal globe morphology	57697	FANCM
HP:0012374	Abnormal globe morphology	4488	MSX2
HP:0012374	Abnormal globe morphology	410	ARSA
HP:0012374	Abnormal globe morphology	4594	MUT
HP:0012374	Abnormal globe morphology	4646	MYO6
HP:0012374	Abnormal globe morphology	613	BCR
HP:0012374	Abnormal globe morphology	4729	NDUFV2
HP:0012374	Abnormal globe morphology	9150	CTDP1
HP:0012374	Abnormal globe morphology	9184	BUB3
HP:0012374	Abnormal globe morphology	5119	CHMP1A
HP:0012374	Abnormal globe morphology	5130	PCYT1A
HP:0012374	Abnormal globe morphology	5148	PDE6G
HP:0012374	Abnormal globe morphology	1123	CHN1
HP:0012374	Abnormal globe morphology	1130	LYST
HP:0012374	Abnormal globe morphology	5230	PGK1
HP:0012374	Abnormal globe morphology	9361	LONP1
HP:0012374	Abnormal globe morphology	1181	CLCN2
HP:0012374	Abnormal globe morphology	9526	MPDU1
HP:0012374	Abnormal globe morphology	25913	POT1
HP:0012374	Abnormal globe morphology	30062	RAX
HP:0012374	Abnormal globe morphology	1414	CRYBB1
HP:0012374	Abnormal globe morphology	1421	CRYGD
HP:0012374	Abnormal globe morphology	9652	TTC37
HP:0012374	Abnormal globe morphology	54820	NDE1
HP:0012374	Abnormal globe morphology	1605	DAG1
HP:0012374	Abnormal globe morphology	124590	USH1G
HP:0012374	Abnormal globe morphology	83696	TRAPPC9
HP:0012374	Abnormal globe morphology	79600	TCTN1
HP:0012374	Abnormal globe morphology	83737	ITCH
HP:0012374	Abnormal globe morphology	5932	RBBP8
HP:0012374	Abnormal globe morphology	10084	PQBP1
HP:0012374	Abnormal globe morphology	1908	EDN3
HP:0012374	Abnormal globe morphology	1917	EEF1A2
HP:0012374	Abnormal globe morphology	346007	EYS
HP:0012374	Abnormal globe morphology	1954	MEGF8
HP:0012374	Abnormal globe morphology	51128	SAR1B
HP:0012374	Abnormal globe morphology	79813	EHMT1
HP:0012374	Abnormal globe morphology	2006	ELN
HP:0012374	Abnormal globe morphology	51199	NIN
HP:0012374	Abnormal globe morphology	112752	IFT43
HP:0012374	Abnormal globe morphology	10370	CITED2
HP:0012374	Abnormal globe morphology	2189	FANCG
HP:0012374	Abnormal globe morphology	6295	SAG
HP:0012374	Abnormal globe morphology	10516	FBLN5
HP:0012374	Abnormal globe morphology	10518	CIB2
HP:0012374	Abnormal globe morphology	80208	SPG11
HP:0012374	Abnormal globe morphology	6496	SIX3
HP:0012374	Abnormal globe morphology	10617	STAMBP
HP:0012374	Abnormal globe morphology	6575	SLC20A2
HP:0012374	Abnormal globe morphology	10682	EBP
HP:0012374	Abnormal globe morphology	6660	SOX5
HP:0012374	Abnormal globe morphology	6687	SPG7
HP:0012374	Abnormal globe morphology	10892	MALT1
HP:0012374	Abnormal globe morphology	2778	GNAS
HP:0012374	Abnormal globe morphology	64218	SEMA4A
HP:0012374	Abnormal globe morphology	6899	TBX1
HP:0012374	Abnormal globe morphology	2934	GSN
HP:0012374	Abnormal globe morphology	56262	LRRC8A
HP:0012374	Abnormal globe morphology	7128	TNFAIP3
HP:0012374	Abnormal globe morphology	23522	KAT6B
HP:0012374	Abnormal globe morphology	3257	HPS1
HP:0012374	Abnormal globe morphology	7486	WRN
HP:0012374	Abnormal globe morphology	7546	ZIC2
HP:0012374	Abnormal globe morphology	7681	MKRN3
HP:0012374	Abnormal globe morphology	126792	B3GALT6
HP:0012374	Abnormal globe morphology	57167	SALL4
HP:0012374	Abnormal globe morphology	3949	LDLR
HP:0012374	Abnormal globe morphology	4023	LPL
HP:0012374	Abnormal globe morphology	4047	LSS
HP:0002453	Abnormal globus pallidus morphology	4594	MUT
HP:0011014	Abnormal glucose homeostasis	5148	PDE6G
HP:0011014	Abnormal glucose homeostasis	6295	SAG
HP:0011014	Abnormal glucose homeostasis	7486	WRN
HP:0011014	Abnormal glucose homeostasis	8516	ITGA8
HP:0011014	Abnormal glucose homeostasis	5506	PPP1R3A
HP:0011014	Abnormal glucose homeostasis	51660	MPC1
HP:0011014	Abnormal glucose homeostasis	7681	MKRN3
HP:0011014	Abnormal glucose homeostasis	56922	MCCC1
HP:0011014	Abnormal glucose homeostasis	4729	NDUFV2
HP:0011014	Abnormal glucose homeostasis	2778	GNAS
HP:0011014	Abnormal glucose homeostasis	64218	SEMA4A
HP:0011014	Abnormal glucose homeostasis	23417	MLYCD
HP:0011014	Abnormal glucose homeostasis	346007	EYS
HP:0011014	Abnormal glucose homeostasis	56246	MRAP
HP:0011014	Abnormal glucose homeostasis	9150	CTDP1
HP:0011014	Abnormal glucose homeostasis	2006	ELN
HP:0001952	Abnormal glucose tolerance	2006	ELN
HP:0003328	Abnormal hair laboratory examination	9652	TTC37
HP:0003328	Abnormal hair laboratory examination	7486	WRN
HP:0010720	Abnormal hair pattern	7681	MKRN3
HP:0010720	Abnormal hair pattern	7486	WRN
HP:0010720	Abnormal hair pattern	6736	SRY
HP:0010720	Abnormal hair pattern	1123	CHN1
HP:0010720	Abnormal hair pattern	10617	STAMBP
HP:0010720	Abnormal hair pattern	57492	ARID1B
HP:0010720	Abnormal hair pattern	23522	KAT6B
HP:0011362	Abnormal hair quantity	57492	ARID1B
HP:0011362	Abnormal hair quantity	7546	ZIC2
HP:0011362	Abnormal hair quantity	5506	PPP1R3A
HP:0011362	Abnormal hair quantity	10682	EBP
HP:0011362	Abnormal hair quantity	3561	IL2RG
HP:0011362	Abnormal hair quantity	6768	ST14
HP:0011362	Abnormal hair quantity	2778	GNAS
HP:0011362	Abnormal hair quantity	2799	GNS
HP:0011362	Abnormal hair quantity	83696	TRAPPC9
HP:0011362	Abnormal hair quantity	1908	EDN3
HP:0011362	Abnormal hair quantity	79813	EHMT1
HP:0011362	Abnormal hair quantity	23522	KAT6B
HP:0011362	Abnormal hair quantity	5119	CHMP1A
HP:0010721	Abnormal hair whorl	7681	MKRN3
HP:0010721	Abnormal hair whorl	10617	STAMBP
HP:0010721	Abnormal hair whorl	7486	WRN
HP:0010660	Abnormal hand bone ossification	126792	B3GALT6
HP:0010660	Abnormal hand bone ossification	9361	LONP1
HP:0010660	Abnormal hand bone ossification	9321	TRIP11
HP:0010660	Abnormal hand bone ossification	10682	EBP
HP:0005922	Abnormal hand morphology	5130	PCYT1A
HP:0005922	Abnormal hand morphology	5156	PDGFRA
HP:0005922	Abnormal hand morphology	9775	EIF4A3
HP:0005922	Abnormal hand morphology	613	BCR
HP:0005922	Abnormal hand morphology	112752	IFT43
HP:0005922	Abnormal hand morphology	57492	ARID1B
HP:0005922	Abnormal hand morphology	2778	GNAS
HP:0005922	Abnormal hand morphology	5932	RBBP8
HP:0005922	Abnormal hand morphology	57167	SALL4
HP:0005922	Abnormal hand morphology	10617	STAMBP
HP:0005922	Abnormal hand morphology	10682	EBP
HP:0001627	Abnormal heart morphology	8318	CDC45
HP:0001627	Abnormal heart morphology	10370	CITED2
HP:0001627	Abnormal heart morphology	2189	FANCG
HP:0001627	Abnormal heart morphology	57492	ARID1B
HP:0001627	Abnormal heart morphology	57592	ZNF687
HP:0001627	Abnormal heart morphology	10516	FBLN5
HP:0001627	Abnormal heart morphology	6443	SGCB
HP:0001627	Abnormal heart morphology	57697	FANCM
HP:0001627	Abnormal heart morphology	10617	STAMBP
HP:0001627	Abnormal heart morphology	4594	MUT
HP:0001627	Abnormal heart morphology	4607	MYBPC3
HP:0001627	Abnormal heart morphology	6736	SRY
HP:0001627	Abnormal heart morphology	613	BCR
HP:0001627	Abnormal heart morphology	4729	NDUFV2
HP:0001627	Abnormal heart morphology	2778	GNAS
HP:0001627	Abnormal heart morphology	2799	GNS
HP:0001627	Abnormal heart morphology	6899	TBX1
HP:0001627	Abnormal heart morphology	23394	ADNP
HP:0001627	Abnormal heart morphology	2934	GSN
HP:0001627	Abnormal heart morphology	23417	MLYCD
HP:0001627	Abnormal heart morphology	9184	BUB3
HP:0001627	Abnormal heart morphology	23522	KAT6B
HP:0001627	Abnormal heart morphology	5156	PDGFRA
HP:0001627	Abnormal heart morphology	1130	LYST
HP:0001627	Abnormal heart morphology	60528	ELAC2
HP:0001627	Abnormal heart morphology	78987	CRELD1
HP:0001627	Abnormal heart morphology	9361	LONP1
HP:0001627	Abnormal heart morphology	3257	HPS1
HP:0001627	Abnormal heart morphology	79188	TMEM43
HP:0001627	Abnormal heart morphology	9652	TTC37
HP:0001627	Abnormal heart morphology	79600	TCTN1
HP:0001627	Abnormal heart morphology	9997	SCO2
HP:0001627	Abnormal heart morphology	1837	DTNA
HP:0001627	Abnormal heart morphology	3908	LAMA2
HP:0001627	Abnormal heart morphology	126792	B3GALT6
HP:0001627	Abnormal heart morphology	57167	SALL4
HP:0001627	Abnormal heart morphology	10084	PQBP1
HP:0001627	Abnormal heart morphology	3949	LDLR
HP:0001627	Abnormal heart morphology	1909	EDNRA
HP:0001627	Abnormal heart morphology	1954	MEGF8
HP:0001627	Abnormal heart morphology	79813	EHMT1
HP:0001627	Abnormal heart morphology	2006	ELN
HP:0001627	Abnormal heart morphology	4091	SMAD6
HP:0031657	Abnormal heart sound	5932	RBBP8
HP:0031657	Abnormal heart sound	3949	LDLR
HP:0031657	Abnormal heart sound	4091	SMAD6
HP:0001654	Abnormal heart valve morphology	6736	SRY
HP:0001654	Abnormal heart valve morphology	2189	FANCG
HP:0001654	Abnormal heart valve morphology	6899	TBX1
HP:0001654	Abnormal heart valve morphology	10516	FBLN5
HP:0001654	Abnormal heart valve morphology	126792	B3GALT6
HP:0001654	Abnormal heart valve morphology	57697	FANCM
HP:0001654	Abnormal heart valve morphology	1909	EDNRA
HP:0001654	Abnormal heart valve morphology	2006	ELN
HP:0001654	Abnormal heart valve morphology	23522	KAT6B
HP:0001654	Abnormal heart valve morphology	4091	SMAD6
HP:0031653	Abnormal heart valve physiology	6660	SOX5
HP:0031653	Abnormal heart valve physiology	613	BCR
HP:0031653	Abnormal heart valve physiology	10516	FBLN5
HP:0031653	Abnormal heart valve physiology	1837	DTNA
HP:0031653	Abnormal heart valve physiology	126792	B3GALT6
HP:0031653	Abnormal heart valve physiology	3949	LDLR
HP:0031653	Abnormal heart valve physiology	9652	TTC37
HP:0031653	Abnormal heart valve physiology	10682	EBP
HP:0031653	Abnormal heart valve physiology	79813	EHMT1
HP:0031653	Abnormal heart valve physiology	2006	ELN
HP:0031653	Abnormal heart valve physiology	9184	BUB3
HP:0031653	Abnormal heart valve physiology	4091	SMAD6
HP:0010701	Abnormal immunoglobulin level	4261	CIITA
HP:0010701	Abnormal immunoglobulin level	56262	LRRC8A
HP:0010701	Abnormal immunoglobulin level	3561	IL2RG
HP:0010701	Abnormal immunoglobulin level	23534	TNPO3
HP:0012647	Abnormal inflammatory response	5130	PCYT1A
HP:0012647	Abnormal inflammatory response	5156	PDGFRA
HP:0012647	Abnormal inflammatory response	1130	LYST
HP:0012647	Abnormal inflammatory response	57492	ARID1B
HP:0012647	Abnormal inflammatory response	4261	CIITA
HP:0012647	Abnormal inflammatory response	3257	HPS1
HP:0012647	Abnormal inflammatory response	26873	OPLAH
HP:0012647	Abnormal inflammatory response	9526	MPDU1
HP:0012647	Abnormal inflammatory response	3426	CFI
HP:0012647	Abnormal inflammatory response	80270	HSD3B7
HP:0012647	Abnormal inflammatory response	10682	EBP
HP:0012647	Abnormal inflammatory response	3561	IL2RG
HP:0012647	Abnormal inflammatory response	4594	MUT
HP:0012647	Abnormal inflammatory response	1536	CYBB
HP:0012647	Abnormal inflammatory response	6736	SRY
HP:0012647	Abnormal inflammatory response	10892	MALT1
HP:0012647	Abnormal inflammatory response	2778	GNAS
HP:0012647	Abnormal inflammatory response	6899	TBX1
HP:0012647	Abnormal inflammatory response	3908	LAMA2
HP:0012647	Abnormal inflammatory response	4023	LPL
HP:0012647	Abnormal inflammatory response	56262	LRRC8A
HP:0012647	Abnormal inflammatory response	2006	ELN
HP:0012647	Abnormal inflammatory response	7128	TNFAIP3
HP:0012647	Abnormal inflammatory response	23534	TNPO3
HP:0040214	Abnormal insulin level	7681	MKRN3
HP:0040214	Abnormal insulin level	5148	PDE6G
HP:0040214	Abnormal insulin level	5506	PPP1R3A
HP:0040214	Abnormal insulin level	346007	EYS
HP:0040214	Abnormal insulin level	6295	SAG
HP:0040214	Abnormal insulin level	64218	SEMA4A
HP:0040157	Abnormal intermamillary distance	57492	ARID1B
HP:0040157	Abnormal intermamillary distance	1954	MEGF8
HP:0040157	Abnormal intermamillary distance	6736	SRY
HP:0040157	Abnormal intermamillary distance	23522	KAT6B
HP:3000062	Abnormal internal carotid artery morphology	3949	LDLR
HP:0000812	Abnormal internal genitalia	2189	FANCG
HP:0000812	Abnormal internal genitalia	9361	LONP1
HP:0000812	Abnormal internal genitalia	57492	ARID1B
HP:0000812	Abnormal internal genitalia	4361	MRE11
HP:0000812	Abnormal internal genitalia	7486	WRN
HP:0000812	Abnormal internal genitalia	8516	ITGA8
HP:0000812	Abnormal internal genitalia	57697	FANCM
HP:0000812	Abnormal internal genitalia	5506	PPP1R3A
HP:0000812	Abnormal internal genitalia	7681	MKRN3
HP:0000812	Abnormal internal genitalia	6736	SRY
HP:0000812	Abnormal internal genitalia	118429	ANTXR2
HP:0000812	Abnormal internal genitalia	2778	GNAS
HP:0000812	Abnormal internal genitalia	6899	TBX1
HP:0000812	Abnormal internal genitalia	57167	SALL4
HP:0000812	Abnormal internal genitalia	9150	CTDP1
HP:0000812	Abnormal internal genitalia	2006	ELN
HP:0000812	Abnormal internal genitalia	9184	BUB3
HP:0000812	Abnormal internal genitalia	51199	NIN
HP:0012547	Abnormal involuntary eye movements	5130	PCYT1A
HP:0012547	Abnormal involuntary eye movements	5148	PDE6G
HP:0012547	Abnormal involuntary eye movements	1123	CHN1
HP:0012547	Abnormal involuntary eye movements	1130	LYST
HP:0012547	Abnormal involuntary eye movements	112752	IFT43
HP:0012547	Abnormal involuntary eye movements	2189	FANCG
HP:0012547	Abnormal involuntary eye movements	9361	LONP1
HP:0012547	Abnormal involuntary eye movements	57492	ARID1B
HP:0012547	Abnormal involuntary eye movements	6295	SAG
HP:0012547	Abnormal involuntary eye movements	3257	HPS1
HP:0012547	Abnormal involuntary eye movements	4361	MRE11
HP:0012547	Abnormal involuntary eye movements	9526	MPDU1
HP:0012547	Abnormal involuntary eye movements	80208	SPG11
HP:0012547	Abnormal involuntary eye movements	57697	FANCM
HP:0012547	Abnormal involuntary eye movements	1414	CRYBB1
HP:0012547	Abnormal involuntary eye movements	1421	CRYGD
HP:0012547	Abnormal involuntary eye movements	10682	EBP
HP:0012547	Abnormal involuntary eye movements	51660	MPC1
HP:0012547	Abnormal involuntary eye movements	6687	SPG7
HP:0012547	Abnormal involuntary eye movements	6736	SRY
HP:0012547	Abnormal involuntary eye movements	4729	NDUFV2
HP:0012547	Abnormal involuntary eye movements	8913	CACNA1G
HP:0012547	Abnormal involuntary eye movements	3798	KIF5A
HP:0012547	Abnormal involuntary eye movements	2778	GNAS
HP:0012547	Abnormal involuntary eye movements	64218	SEMA4A
HP:0012547	Abnormal involuntary eye movements	79600	TCTN1
HP:0012547	Abnormal involuntary eye movements	57167	SALL4
HP:0012547	Abnormal involuntary eye movements	346007	EYS
HP:0012547	Abnormal involuntary eye movements	255928	SYT14
HP:0012547	Abnormal involuntary eye movements	9150	CTDP1
HP:0012547	Abnormal involuntary eye movements	2006	ELN
HP:0012547	Abnormal involuntary eye movements	23522	KAT6B
HP:0012547	Abnormal involuntary eye movements	5119	CHMP1A
HP:0008034	Abnormal iris pigmentation	7681	MKRN3
HP:0008034	Abnormal iris pigmentation	5130	PCYT1A
HP:0008034	Abnormal iris pigmentation	10518	CIB2
HP:0008034	Abnormal iris pigmentation	1123	CHN1
HP:0008034	Abnormal iris pigmentation	1130	LYST
HP:0008034	Abnormal iris pigmentation	1908	EDN3
HP:0008034	Abnormal iris pigmentation	124590	USH1G
HP:0008034	Abnormal iris pigmentation	3257	HPS1
HP:0008034	Abnormal iris pigmentation	2006	ELN
HP:0030791	Abnormal jaw morphology	1123	CHN1
HP:0030791	Abnormal jaw morphology	9321	TRIP11
HP:0030791	Abnormal jaw morphology	112752	IFT43
HP:0030791	Abnormal jaw morphology	8318	CDC45
HP:0030791	Abnormal jaw morphology	2189	FANCG
HP:0030791	Abnormal jaw morphology	57492	ARID1B
HP:0030791	Abnormal jaw morphology	7341	SUMO1
HP:0030791	Abnormal jaw morphology	8516	ITGA8
HP:0030791	Abnormal jaw morphology	57697	FANCM
HP:0030791	Abnormal jaw morphology	10617	STAMBP
HP:0030791	Abnormal jaw morphology	10682	EBP
HP:0030791	Abnormal jaw morphology	6660	SOX5
HP:0030791	Abnormal jaw morphology	9775	EIF4A3
HP:0030791	Abnormal jaw morphology	6736	SRY
HP:0030791	Abnormal jaw morphology	2778	GNAS
HP:0030791	Abnormal jaw morphology	6899	TBX1
HP:0030791	Abnormal jaw morphology	5932	RBBP8
HP:0030791	Abnormal jaw morphology	3908	LAMA2
HP:0030791	Abnormal jaw morphology	126792	B3GALT6
HP:0030791	Abnormal jaw morphology	10084	PQBP1
HP:0030791	Abnormal jaw morphology	1909	EDNRA
HP:0030791	Abnormal jaw morphology	1954	MEGF8
HP:0030791	Abnormal jaw morphology	9150	CTDP1
HP:0030791	Abnormal jaw morphology	79813	EHMT1
HP:0030791	Abnormal jaw morphology	2006	ELN
HP:0030791	Abnormal jaw morphology	9184	BUB3
HP:0030791	Abnormal jaw morphology	23522	KAT6B
HP:0001367	Abnormal joint morphology	112752	IFT43
HP:0001367	Abnormal joint morphology	8318	CDC45
HP:0001367	Abnormal joint morphology	2189	FANCG
HP:0001367	Abnormal joint morphology	57492	ARID1B
HP:0001367	Abnormal joint morphology	2254	FGF9
HP:0001367	Abnormal joint morphology	57592	ZNF687
HP:0001367	Abnormal joint morphology	10516	FBLN5
HP:0001367	Abnormal joint morphology	80208	SPG11
HP:0001367	Abnormal joint morphology	57697	FANCM
HP:0001367	Abnormal joint morphology	10682	EBP
HP:0001367	Abnormal joint morphology	6660	SOX5
HP:0001367	Abnormal joint morphology	6736	SRY
HP:0001367	Abnormal joint morphology	613	BCR
HP:0001367	Abnormal joint morphology	2778	GNAS
HP:0001367	Abnormal joint morphology	2799	GNS
HP:0001367	Abnormal joint morphology	6899	TBX1
HP:0001367	Abnormal joint morphology	23394	ADNP
HP:0001367	Abnormal joint morphology	283489	CHAMP1
HP:0001367	Abnormal joint morphology	7018	TF
HP:0001367	Abnormal joint morphology	9150	CTDP1
HP:0001367	Abnormal joint morphology	56262	LRRC8A
HP:0001367	Abnormal joint morphology	7128	TNFAIP3
HP:0001367	Abnormal joint morphology	23522	KAT6B
HP:0001367	Abnormal joint morphology	5119	CHMP1A
HP:0001367	Abnormal joint morphology	5130	PCYT1A
HP:0001367	Abnormal joint morphology	1123	CHN1
HP:0001367	Abnormal joint morphology	9361	LONP1
HP:0001367	Abnormal joint morphology	7443	VRK1
HP:0001367	Abnormal joint morphology	9526	MPDU1
HP:0001367	Abnormal joint morphology	7486	WRN
HP:0001367	Abnormal joint morphology	25939	SAMHD1
HP:0001367	Abnormal joint morphology	3426	CFI
HP:0001367	Abnormal joint morphology	100128927	ZBTB42
HP:0001367	Abnormal joint morphology	54820	NDE1
HP:0001367	Abnormal joint morphology	9775	EIF4A3
HP:0001367	Abnormal joint morphology	1605	DAG1
HP:0001367	Abnormal joint morphology	118429	ANTXR2
HP:0001367	Abnormal joint morphology	3798	KIF5A
HP:0001367	Abnormal joint morphology	83737	ITCH
HP:0001367	Abnormal joint morphology	5932	RBBP8
HP:0001367	Abnormal joint morphology	3908	LAMA2
HP:0001367	Abnormal joint morphology	126792	B3GALT6
HP:0001367	Abnormal joint morphology	57167	SALL4
HP:0001367	Abnormal joint morphology	10084	PQBP1
HP:0001367	Abnormal joint morphology	1954	MEGF8
HP:0001367	Abnormal joint morphology	2006	ELN
HP:0001367	Abnormal joint morphology	51199	NIN
HP:0045040	Abnormal lactate dehydrogenase activity	1605	DAG1
HP:0012700	Abnormal large intestine physiology	613	BCR
HP:0012700	Abnormal large intestine physiology	6899	TBX1
HP:0025423	Abnormal larynx morphology	9775	EIF4A3
HP:0025423	Abnormal larynx morphology	7486	WRN
HP:0025423	Abnormal larynx morphology	9361	LONP1
HP:0025423	Abnormal larynx morphology	2006	ELN
HP:0025423	Abnormal larynx morphology	23522	KAT6B
HP:0025423	Abnormal larynx morphology	6899	TBX1
HP:0011893	Abnormal leukocyte count	5156	PDGFRA
HP:0011893	Abnormal leukocyte count	613	BCR
HP:0011893	Abnormal leukocyte count	1130	LYST
HP:0011893	Abnormal leukocyte count	2189	FANCG
HP:0011893	Abnormal leukocyte count	4261	CIITA
HP:0011893	Abnormal leukocyte count	57167	SALL4
HP:0011893	Abnormal leukocyte count	57697	FANCM
HP:0011893	Abnormal leukocyte count	56262	LRRC8A
HP:0011893	Abnormal leukocyte count	7128	TNFAIP3
HP:0011893	Abnormal leukocyte count	3561	IL2RG
HP:0011893	Abnormal leukocyte count	4594	MUT
HP:0001881	Abnormal leukocyte morphology	5156	PDGFRA
HP:0001881	Abnormal leukocyte morphology	1130	LYST
HP:0001881	Abnormal leukocyte morphology	2189	FANCG
HP:0001881	Abnormal leukocyte morphology	4261	CIITA
HP:0001881	Abnormal leukocyte morphology	57697	FANCM
HP:0001881	Abnormal leukocyte morphology	3561	IL2RG
HP:0001881	Abnormal leukocyte morphology	4594	MUT
HP:0001881	Abnormal leukocyte morphology	4607	MYBPC3
HP:0001881	Abnormal leukocyte morphology	1536	CYBB
HP:0001881	Abnormal leukocyte morphology	10841	FTCD
HP:0001881	Abnormal leukocyte morphology	613	BCR
HP:0001881	Abnormal leukocyte morphology	811	CALR
HP:0001881	Abnormal leukocyte morphology	57167	SALL4
HP:0001881	Abnormal leukocyte morphology	56262	LRRC8A
HP:0001881	Abnormal leukocyte morphology	7128	TNFAIP3
HP:0001881	Abnormal leukocyte morphology	9184	BUB3
HP:0001881	Abnormal leukocyte morphology	23534	TNPO3
HP:0040081	Abnormal levels of creatine kinase in blood	1605	DAG1
HP:0040081	Abnormal levels of creatine kinase in blood	2683	B4GALT1
HP:0040081	Abnormal levels of creatine kinase in blood	6443	SGCB
HP:0040081	Abnormal levels of creatine kinase in blood	3908	LAMA2
HP:0040081	Abnormal levels of creatine kinase in blood	2006	ELN
HP:0040081	Abnormal levels of creatine kinase in blood	4607	MYBPC3
HP:0008323	Abnormal light- and dark-adapted electroretinogram	6295	SAG
HP:0100542	Abnormal localization of kidney	5932	RBBP8
HP:0100542	Abnormal localization of kidney	57167	SALL4
HP:0100542	Abnormal localization of kidney	6736	SRY
HP:0100542	Abnormal localization of kidney	57697	FANCM
HP:0100542	Abnormal localization of kidney	1123	CHN1
HP:0100542	Abnormal localization of kidney	2189	FANCG
HP:0100542	Abnormal localization of kidney	57492	ARID1B
HP:0100542	Abnormal localization of kidney	2006	ELN
HP:0000357	Abnormal location of ears	8318	CDC45
HP:0000357	Abnormal location of ears	57492	ARID1B
HP:0000357	Abnormal location of ears	8516	ITGA8
HP:0000357	Abnormal location of ears	10617	STAMBP
HP:0000357	Abnormal location of ears	9652	TTC37
HP:0000357	Abnormal location of ears	10682	EBP
HP:0000357	Abnormal location of ears	6660	SOX5
HP:0000357	Abnormal location of ears	9775	EIF4A3
HP:0000357	Abnormal location of ears	1605	DAG1
HP:0000357	Abnormal location of ears	6736	SRY
HP:0000357	Abnormal location of ears	2799	GNS
HP:0000357	Abnormal location of ears	79600	TCTN1
HP:0000357	Abnormal location of ears	6899	TBX1
HP:0000357	Abnormal location of ears	83737	ITCH
HP:0000357	Abnormal location of ears	283489	CHAMP1
HP:0000357	Abnormal location of ears	1908	EDN3
HP:0000357	Abnormal location of ears	1909	EDNRA
HP:0000357	Abnormal location of ears	1917	EEF1A2
HP:0000357	Abnormal location of ears	1954	MEGF8
HP:0000357	Abnormal location of ears	56262	LRRC8A
HP:0000357	Abnormal location of ears	2006	ELN
HP:0000357	Abnormal location of ears	9184	BUB3
HP:0000357	Abnormal location of ears	23522	KAT6B
HP:0002366	Abnormal lower motor neuron morphology	80208	SPG11
HP:0002101	Abnormal lung lobation	9184	BUB3
HP:0002101	Abnormal lung lobation	6899	TBX1
HP:0002088	Abnormal lung morphology	5156	PDGFRA
HP:0002088	Abnormal lung morphology	9321	TRIP11
HP:0002088	Abnormal lung morphology	1130	LYST
HP:0002088	Abnormal lung morphology	112752	IFT43
HP:0002088	Abnormal lung morphology	8318	CDC45
HP:0002088	Abnormal lung morphology	78987	CRELD1
HP:0002088	Abnormal lung morphology	57492	ARID1B
HP:0002088	Abnormal lung morphology	4261	CIITA
HP:0002088	Abnormal lung morphology	3257	HPS1
HP:0002088	Abnormal lung morphology	10516	FBLN5
HP:0002088	Abnormal lung morphology	7486	WRN
HP:0002088	Abnormal lung morphology	8516	ITGA8
HP:0002088	Abnormal lung morphology	3426	CFI
HP:0002088	Abnormal lung morphology	3561	IL2RG
HP:0002088	Abnormal lung morphology	1536	CYBB
HP:0002088	Abnormal lung morphology	7681	MKRN3
HP:0002088	Abnormal lung morphology	613	BCR
HP:0002088	Abnormal lung morphology	10892	MALT1
HP:0002088	Abnormal lung morphology	2799	GNS
HP:0002088	Abnormal lung morphology	6899	TBX1
HP:0002088	Abnormal lung morphology	3908	LAMA2
HP:0002088	Abnormal lung morphology	283489	CHAMP1
HP:0002088	Abnormal lung morphology	79813	EHMT1
HP:0002088	Abnormal lung morphology	56262	LRRC8A
HP:0002088	Abnormal lung morphology	2006	ELN
HP:0002088	Abnormal lung morphology	9184	BUB3
HP:0002088	Abnormal lung morphology	23522	KAT6B
HP:0004332	Abnormal lymphocyte morphology	4261	CIITA
HP:0004332	Abnormal lymphocyte morphology	56262	LRRC8A
HP:0004332	Abnormal lymphocyte morphology	7128	TNFAIP3
HP:0004332	Abnormal lymphocyte morphology	3561	IL2RG
HP:0004332	Abnormal lymphocyte morphology	23534	TNPO3
HP:0031409	Abnormal lymphocyte physiology	4261	CIITA
HP:0031409	Abnormal lymphocyte physiology	6899	TBX1
HP:0004311	Abnormal macrophage morphology	1536	CYBB
HP:0001103	Abnormal macular morphology	5130	PCYT1A
HP:0001103	Abnormal macular morphology	10516	FBLN5
HP:0001103	Abnormal macular morphology	5148	PDE6G
HP:0001103	Abnormal macular morphology	80208	SPG11
HP:0001103	Abnormal macular morphology	1130	LYST
HP:0001103	Abnormal macular morphology	1908	EDN3
HP:0001103	Abnormal macular morphology	6295	SAG
HP:0001103	Abnormal macular morphology	64218	SEMA4A
HP:0012874	Abnormal male reproductive system physiology	6736	SRY
HP:0012874	Abnormal male reproductive system physiology	8287	USP9Y
HP:0012874	Abnormal male reproductive system physiology	57697	FANCM
HP:0012874	Abnormal male reproductive system physiology	2189	FANCG
HP:0012874	Abnormal male reproductive system physiology	2006	ELN
HP:0012143	Abnormal megakaryocyte morphology	811	CALR
HP:0005916	Abnormal metacarpal morphology	5130	PCYT1A
HP:0005916	Abnormal metacarpal morphology	9775	EIF4A3
HP:0005916	Abnormal metacarpal morphology	126792	B3GALT6
HP:0005916	Abnormal metacarpal morphology	57167	SALL4
HP:0005916	Abnormal metacarpal morphology	6736	SRY
HP:0005916	Abnormal metacarpal morphology	9361	LONP1
HP:0005916	Abnormal metacarpal morphology	2254	FGF9
HP:0005916	Abnormal metacarpal morphology	2778	GNAS
HP:0008316	Abnormal mitochondria in muscle tissue	4729	NDUFV2
HP:0001633	Abnormal mitral valve morphology	2006	ELN
HP:0031481	Abnormal mitral valve physiology	6660	SOX5
HP:0031481	Abnormal mitral valve physiology	10516	FBLN5
HP:0031481	Abnormal mitral valve physiology	1837	DTNA
HP:0031481	Abnormal mitral valve physiology	126792	B3GALT6
HP:0031481	Abnormal mitral valve physiology	2006	ELN
HP:0031481	Abnormal mitral valve physiology	3949	LDLR
HP:0040066	Abnormal morphology of bones of the lower limbs	5130	PCYT1A
HP:0040066	Abnormal morphology of bones of the lower limbs	9775	EIF4A3
HP:0040066	Abnormal morphology of bones of the lower limbs	6736	SRY
HP:0040066	Abnormal morphology of bones of the lower limbs	613	BCR
HP:0040066	Abnormal morphology of bones of the lower limbs	9321	TRIP11
HP:0040066	Abnormal morphology of bones of the lower limbs	2189	FANCG
HP:0040066	Abnormal morphology of bones of the lower limbs	57492	ARID1B
HP:0040066	Abnormal morphology of bones of the lower limbs	2778	GNAS
HP:0040066	Abnormal morphology of bones of the lower limbs	126792	B3GALT6
HP:0040066	Abnormal morphology of bones of the lower limbs	57167	SALL4
HP:0040066	Abnormal morphology of bones of the lower limbs	57697	FANCM
HP:0040066	Abnormal morphology of bones of the lower limbs	1954	MEGF8
HP:0040065	Abnormal morphology of bones of the upper limbs	5130	PCYT1A
HP:0040065	Abnormal morphology of bones of the upper limbs	9775	EIF4A3
HP:0040065	Abnormal morphology of bones of the upper limbs	6736	SRY
HP:0040065	Abnormal morphology of bones of the upper limbs	1123	CHN1
HP:0040065	Abnormal morphology of bones of the upper limbs	9321	TRIP11
HP:0040065	Abnormal morphology of bones of the upper limbs	2189	FANCG
HP:0040065	Abnormal morphology of bones of the upper limbs	9361	LONP1
HP:0040065	Abnormal morphology of bones of the upper limbs	57492	ARID1B
HP:0040065	Abnormal morphology of bones of the upper limbs	2254	FGF9
HP:0040065	Abnormal morphology of bones of the upper limbs	2778	GNAS
HP:0040065	Abnormal morphology of bones of the upper limbs	126792	B3GALT6
HP:0040065	Abnormal morphology of bones of the upper limbs	57167	SALL4
HP:0040065	Abnormal morphology of bones of the upper limbs	57697	FANCM
HP:0040065	Abnormal morphology of bones of the upper limbs	1954	MEGF8
HP:0040073	Abnormal morphology of forearm bone	2189	FANCG
HP:0040073	Abnormal morphology of forearm bone	9775	EIF4A3
HP:0040073	Abnormal morphology of forearm bone	126792	B3GALT6
HP:0040073	Abnormal morphology of forearm bone	57167	SALL4
HP:0040073	Abnormal morphology of forearm bone	57697	FANCM
HP:0040073	Abnormal morphology of forearm bone	1123	CHN1
HP:0040073	Abnormal morphology of forearm bone	9321	TRIP11
HP:0031192	Abnormal morphology of left ventricular trabeculae	1837	DTNA
HP:0031192	Abnormal morphology of left ventricular trabeculae	4607	MYBPC3
HP:0030681	Abnormal morphology of myocardial trabeculae	1837	DTNA
HP:0030681	Abnormal morphology of myocardial trabeculae	4607	MYBPC3
HP:0025568	Abnormal morphology of the choroidal vasculature	10516	FBLN5
HP:0030962	Abnormal morphology of the great vessels	6736	SRY
HP:0030962	Abnormal morphology of the great vessels	613	BCR
HP:0030962	Abnormal morphology of the great vessels	112752	IFT43
HP:0030962	Abnormal morphology of the great vessels	10370	CITED2
HP:0030962	Abnormal morphology of the great vessels	78987	CRELD1
HP:0030962	Abnormal morphology of the great vessels	2189	FANCG
HP:0030962	Abnormal morphology of the great vessels	57492	ARID1B
HP:0030962	Abnormal morphology of the great vessels	6899	TBX1
HP:0030962	Abnormal morphology of the great vessels	10516	FBLN5
HP:0030962	Abnormal morphology of the great vessels	1837	DTNA
HP:0030962	Abnormal morphology of the great vessels	7486	WRN
HP:0030962	Abnormal morphology of the great vessels	57167	SALL4
HP:0030962	Abnormal morphology of the great vessels	57697	FANCM
HP:0030962	Abnormal morphology of the great vessels	10084	PQBP1
HP:0030962	Abnormal morphology of the great vessels	3949	LDLR
HP:0030962	Abnormal morphology of the great vessels	1954	MEGF8
HP:0030962	Abnormal morphology of the great vessels	9652	TTC37
HP:0030962	Abnormal morphology of the great vessels	79813	EHMT1
HP:0030962	Abnormal morphology of the great vessels	2006	ELN
HP:0030962	Abnormal morphology of the great vessels	9184	BUB3
HP:0030962	Abnormal morphology of the great vessels	23522	KAT6B
HP:0030962	Abnormal morphology of the great vessels	4091	SMAD6
HP:0001711	Abnormal morphology of the left ventricle	1837	DTNA
HP:0001711	Abnormal morphology of the left ventricle	2778	GNAS
HP:0001711	Abnormal morphology of the left ventricle	9184	BUB3
HP:0001711	Abnormal morphology of the left ventricle	57592	ZNF687
HP:0001711	Abnormal morphology of the left ventricle	4091	SMAD6
HP:0000614	Abnormal morphology of the nasolacrimal system	10892	MALT1
HP:0000614	Abnormal morphology of the nasolacrimal system	23522	KAT6B
HP:0030669	Abnormal morphology of the ocular adnexa	112752	IFT43
HP:0030669	Abnormal morphology of the ocular adnexa	8318	CDC45
HP:0030669	Abnormal morphology of the ocular adnexa	2189	FANCG
HP:0030669	Abnormal morphology of the ocular adnexa	57492	ARID1B
HP:0030669	Abnormal morphology of the ocular adnexa	8516	ITGA8
HP:0030669	Abnormal morphology of the ocular adnexa	57697	FANCM
HP:0030669	Abnormal morphology of the ocular adnexa	10682	EBP
HP:0030669	Abnormal morphology of the ocular adnexa	51660	MPC1
HP:0030669	Abnormal morphology of the ocular adnexa	6660	SOX5
HP:0030669	Abnormal morphology of the ocular adnexa	6736	SRY
HP:0030669	Abnormal morphology of the ocular adnexa	613	BCR
HP:0030669	Abnormal morphology of the ocular adnexa	10892	MALT1
HP:0030669	Abnormal morphology of the ocular adnexa	2778	GNAS
HP:0030669	Abnormal morphology of the ocular adnexa	2799	GNS
HP:0030669	Abnormal morphology of the ocular adnexa	6899	TBX1
HP:0030669	Abnormal morphology of the ocular adnexa	23394	ADNP
HP:0030669	Abnormal morphology of the ocular adnexa	283489	CHAMP1
HP:0030669	Abnormal morphology of the ocular adnexa	9150	CTDP1
HP:0030669	Abnormal morphology of the ocular adnexa	56262	LRRC8A
HP:0030669	Abnormal morphology of the ocular adnexa	9184	BUB3
HP:0030669	Abnormal morphology of the ocular adnexa	23522	KAT6B
HP:0030669	Abnormal morphology of the ocular adnexa	1123	CHN1
HP:0030669	Abnormal morphology of the ocular adnexa	9361	LONP1
HP:0030669	Abnormal morphology of the ocular adnexa	25939	SAMHD1
HP:0030669	Abnormal morphology of the ocular adnexa	30062	RAX
HP:0030669	Abnormal morphology of the ocular adnexa	7546	ZIC2
HP:0030669	Abnormal morphology of the ocular adnexa	9652	TTC37
HP:0030669	Abnormal morphology of the ocular adnexa	3561	IL2RG
HP:0030669	Abnormal morphology of the ocular adnexa	7681	MKRN3
HP:0030669	Abnormal morphology of the ocular adnexa	83696	TRAPPC9
HP:0030669	Abnormal morphology of the ocular adnexa	79600	TCTN1
HP:0030669	Abnormal morphology of the ocular adnexa	5932	RBBP8
HP:0030669	Abnormal morphology of the ocular adnexa	1861	TOR1A
HP:0030669	Abnormal morphology of the ocular adnexa	126792	B3GALT6
HP:0030669	Abnormal morphology of the ocular adnexa	57167	SALL4
HP:0030669	Abnormal morphology of the ocular adnexa	10084	PQBP1
HP:0030669	Abnormal morphology of the ocular adnexa	3949	LDLR
HP:0030669	Abnormal morphology of the ocular adnexa	1908	EDN3
HP:0030669	Abnormal morphology of the ocular adnexa	1909	EDNRA
HP:0030669	Abnormal morphology of the ocular adnexa	1917	EEF1A2
HP:0030669	Abnormal morphology of the ocular adnexa	1954	MEGF8
HP:0030669	Abnormal morphology of the ocular adnexa	4023	LPL
HP:0030669	Abnormal morphology of the ocular adnexa	79813	EHMT1
HP:0030669	Abnormal morphology of the ocular adnexa	2006	ELN
HP:0004329	Abnormal morphology of the posterior segment of the globe	6295	SAG
HP:0004329	Abnormal morphology of the posterior segment of the globe	10516	FBLN5
HP:0004329	Abnormal morphology of the posterior segment of the globe	10518	CIB2
HP:0004329	Abnormal morphology of the posterior segment of the globe	80208	SPG11
HP:0004329	Abnormal morphology of the posterior segment of the globe	10617	STAMBP
HP:0004329	Abnormal morphology of the posterior segment of the globe	410	ARSA
HP:0004329	Abnormal morphology of the posterior segment of the globe	10682	EBP
HP:0004329	Abnormal morphology of the posterior segment of the globe	4594	MUT
HP:0004329	Abnormal morphology of the posterior segment of the globe	6660	SOX5
HP:0004329	Abnormal morphology of the posterior segment of the globe	6687	SPG7
HP:0004329	Abnormal morphology of the posterior segment of the globe	4646	MYO6
HP:0004329	Abnormal morphology of the posterior segment of the globe	4729	NDUFV2
HP:0004329	Abnormal morphology of the posterior segment of the globe	2778	GNAS
HP:0004329	Abnormal morphology of the posterior segment of the globe	64218	SEMA4A
HP:0004329	Abnormal morphology of the posterior segment of the globe	6899	TBX1
HP:0004329	Abnormal morphology of the posterior segment of the globe	5130	PCYT1A
HP:0004329	Abnormal morphology of the posterior segment of the globe	5148	PDE6G
HP:0004329	Abnormal morphology of the posterior segment of the globe	1123	CHN1
HP:0004329	Abnormal morphology of the posterior segment of the globe	1130	LYST
HP:0004329	Abnormal morphology of the posterior segment of the globe	5230	PGK1
HP:0004329	Abnormal morphology of the posterior segment of the globe	1181	CLCN2
HP:0004329	Abnormal morphology of the posterior segment of the globe	3257	HPS1
HP:0004329	Abnormal morphology of the posterior segment of the globe	9526	MPDU1
HP:0004329	Abnormal morphology of the posterior segment of the globe	25913	POT1
HP:0004329	Abnormal morphology of the posterior segment of the globe	7486	WRN
HP:0004329	Abnormal morphology of the posterior segment of the globe	1605	DAG1
HP:0004329	Abnormal morphology of the posterior segment of the globe	124590	USH1G
HP:0004329	Abnormal morphology of the posterior segment of the globe	83696	TRAPPC9
HP:0004329	Abnormal morphology of the posterior segment of the globe	57167	SALL4
HP:0004329	Abnormal morphology of the posterior segment of the globe	3949	LDLR
HP:0004329	Abnormal morphology of the posterior segment of the globe	1908	EDN3
HP:0004329	Abnormal morphology of the posterior segment of the globe	346007	EYS
HP:0004329	Abnormal morphology of the posterior segment of the globe	4023	LPL
HP:0004329	Abnormal morphology of the posterior segment of the globe	51128	SAR1B
HP:0004329	Abnormal morphology of the posterior segment of the globe	2006	ELN
HP:0045009	Abnormal morphology of the radius	126792	B3GALT6
HP:0045009	Abnormal morphology of the radius	57167	SALL4
HP:0045009	Abnormal morphology of the radius	1123	CHN1
HP:0045009	Abnormal morphology of the radius	9321	TRIP11
HP:0045009	Abnormal morphology of the radius	9775	EIF4A3
HP:0040071	Abnormal morphology of ulna	2189	FANCG
HP:0040071	Abnormal morphology of ulna	57167	SALL4
HP:0040071	Abnormal morphology of ulna	57697	FANCM
HP:0040131	Abnormal motor nerve conduction velocity	81846	SBF2
HP:0040131	Abnormal motor nerve conduction velocity	9150	CTDP1
HP:0002450	Abnormal motor neuron morphology	7443	VRK1
HP:0002450	Abnormal motor neuron morphology	80208	SPG11
HP:0003808	Abnormal muscle tone	10300	KATNB1
HP:0003808	Abnormal muscle tone	57492	ARID1B
HP:0003808	Abnormal muscle tone	55532	SLC30A10
HP:0003808	Abnormal muscle tone	4361	MRE11
HP:0003808	Abnormal muscle tone	288	ANK3
HP:0003808	Abnormal muscle tone	80208	SPG11
HP:0003808	Abnormal muscle tone	6496	SIX3
HP:0003808	Abnormal muscle tone	10617	STAMBP
HP:0003808	Abnormal muscle tone	6531	SLC6A3
HP:0003808	Abnormal muscle tone	410	ARSA
HP:0003808	Abnormal muscle tone	10682	EBP
HP:0003808	Abnormal muscle tone	51660	MPC1
HP:0003808	Abnormal muscle tone	4594	MUT
HP:0003808	Abnormal muscle tone	6660	SOX5
HP:0003808	Abnormal muscle tone	2566	GABRG2
HP:0003808	Abnormal muscle tone	113179	ADAT3
HP:0003808	Abnormal muscle tone	6687	SPG7
HP:0003808	Abnormal muscle tone	4729	NDUFV2
HP:0003808	Abnormal muscle tone	2683	B4GALT1
HP:0003808	Abnormal muscle tone	8913	CACNA1G
HP:0003808	Abnormal muscle tone	6899	TBX1
HP:0003808	Abnormal muscle tone	23394	ADNP
HP:0003808	Abnormal muscle tone	283489	CHAMP1
HP:0003808	Abnormal muscle tone	23417	MLYCD
HP:0003808	Abnormal muscle tone	9184	BUB3
HP:0003808	Abnormal muscle tone	23522	KAT6B
HP:0003808	Abnormal muscle tone	5119	CHMP1A
HP:0003808	Abnormal muscle tone	5130	PCYT1A
HP:0003808	Abnormal muscle tone	1130	LYST
HP:0003808	Abnormal muscle tone	60528	ELAC2
HP:0003808	Abnormal muscle tone	9361	LONP1
HP:0003808	Abnormal muscle tone	3242	HPD
HP:0003808	Abnormal muscle tone	7443	VRK1
HP:0003808	Abnormal muscle tone	9526	MPDU1
HP:0003808	Abnormal muscle tone	25939	SAMHD1
HP:0003808	Abnormal muscle tone	7681	MKRN3
HP:0003808	Abnormal muscle tone	54820	NDE1
HP:0003808	Abnormal muscle tone	1605	DAG1
HP:0003808	Abnormal muscle tone	56922	MCCC1
HP:0003808	Abnormal muscle tone	5723	PSPH
HP:0003808	Abnormal muscle tone	118429	ANTXR2
HP:0003808	Abnormal muscle tone	3798	KIF5A
HP:0003808	Abnormal muscle tone	83696	TRAPPC9
HP:0003808	Abnormal muscle tone	79600	TCTN1
HP:0003808	Abnormal muscle tone	9997	SCO2
HP:0003808	Abnormal muscle tone	3908	LAMA2
HP:0003808	Abnormal muscle tone	1861	TOR1A
HP:0003808	Abnormal muscle tone	126792	B3GALT6
HP:0003808	Abnormal muscle tone	10084	PQBP1
HP:0003808	Abnormal muscle tone	1908	EDN3
HP:0003808	Abnormal muscle tone	1917	EEF1A2
HP:0003808	Abnormal muscle tone	55180	LINS1
HP:0003808	Abnormal muscle tone	79813	EHMT1
HP:0003808	Abnormal muscle tone	2006	ELN
HP:0012447	Abnormal myelination	1605	DAG1
HP:0012447	Abnormal myelination	4729	NDUFV2
HP:0012447	Abnormal myelination	6305	SBF1
HP:0012447	Abnormal myelination	3798	KIF5A
HP:0012447	Abnormal myelination	80208	SPG11
HP:0012447	Abnormal myelination	25939	SAMHD1
HP:0012447	Abnormal myelination	10617	STAMBP
HP:0012447	Abnormal myelination	410	ARSA
HP:0012447	Abnormal myelination	81846	SBF2
HP:0012447	Abnormal myelination	9150	CTDP1
HP:0012447	Abnormal myelination	4594	MUT
HP:0001637	Abnormal myocardium morphology	5156	PDGFRA
HP:0001637	Abnormal myocardium morphology	60528	ELAC2
HP:0001637	Abnormal myocardium morphology	4729	NDUFV2
HP:0001637	Abnormal myocardium morphology	2189	FANCG
HP:0001637	Abnormal myocardium morphology	3257	HPS1
HP:0001637	Abnormal myocardium morphology	2778	GNAS
HP:0001637	Abnormal myocardium morphology	2799	GNS
HP:0001637	Abnormal myocardium morphology	9997	SCO2
HP:0001637	Abnormal myocardium morphology	6443	SGCB
HP:0001637	Abnormal myocardium morphology	1837	DTNA
HP:0001637	Abnormal myocardium morphology	3908	LAMA2
HP:0001637	Abnormal myocardium morphology	79188	TMEM43
HP:0001637	Abnormal myocardium morphology	57697	FANCM
HP:0001637	Abnormal myocardium morphology	2934	GSN
HP:0001637	Abnormal myocardium morphology	23417	MLYCD
HP:0001637	Abnormal myocardium morphology	2006	ELN
HP:0001637	Abnormal myocardium morphology	4594	MUT
HP:0001637	Abnormal myocardium morphology	4607	MYBPC3
HP:0005105	Abnormal nasal morphology	5148	PDE6G
HP:0005105	Abnormal nasal morphology	1123	CHN1
HP:0005105	Abnormal nasal morphology	9321	TRIP11
HP:0005105	Abnormal nasal morphology	112752	IFT43
HP:0005105	Abnormal nasal morphology	10370	CITED2
HP:0005105	Abnormal nasal morphology	9361	LONP1
HP:0005105	Abnormal nasal morphology	57492	ARID1B
HP:0005105	Abnormal nasal morphology	6295	SAG
HP:0005105	Abnormal nasal morphology	6496	SIX3
HP:0005105	Abnormal nasal morphology	10617	STAMBP
HP:0005105	Abnormal nasal morphology	9652	TTC37
HP:0005105	Abnormal nasal morphology	6660	SOX5
HP:0005105	Abnormal nasal morphology	9775	EIF4A3
HP:0005105	Abnormal nasal morphology	613	BCR
HP:0005105	Abnormal nasal morphology	124590	USH1G
HP:0005105	Abnormal nasal morphology	64218	SEMA4A
HP:0005105	Abnormal nasal morphology	2799	GNS
HP:0005105	Abnormal nasal morphology	79600	TCTN1
HP:0005105	Abnormal nasal morphology	6899	TBX1
HP:0005105	Abnormal nasal morphology	5932	RBBP8
HP:0005105	Abnormal nasal morphology	23394	ADNP
HP:0005105	Abnormal nasal morphology	10084	PQBP1
HP:0005105	Abnormal nasal morphology	1908	EDN3
HP:0005105	Abnormal nasal morphology	346007	EYS
HP:0005105	Abnormal nasal morphology	1954	MEGF8
HP:0005105	Abnormal nasal morphology	79813	EHMT1
HP:0005105	Abnormal nasal morphology	2006	ELN
HP:0005105	Abnormal nasal morphology	9184	BUB3
HP:0005105	Abnormal nasal morphology	23522	KAT6B
HP:0005105	Abnormal nasal morphology	51199	NIN
HP:0040129	Abnormal nerve conduction velocity	10516	FBLN5
HP:0040129	Abnormal nerve conduction velocity	1130	LYST
HP:0040129	Abnormal nerve conduction velocity	410	ARSA
HP:0040129	Abnormal nerve conduction velocity	6305	SBF1
HP:0040129	Abnormal nerve conduction velocity	81846	SBF2
HP:0040129	Abnormal nerve conduction velocity	9150	CTDP1
HP:0001311	Abnormal nervous system electrophysiology	2566	GABRG2
HP:0001311	Abnormal nervous system electrophysiology	1130	LYST
HP:0001311	Abnormal nervous system electrophysiology	6305	SBF1
HP:0001311	Abnormal nervous system electrophysiology	10516	FBLN5
HP:0001311	Abnormal nervous system electrophysiology	1917	EEF1A2
HP:0001311	Abnormal nervous system electrophysiology	410	ARSA
HP:0001311	Abnormal nervous system electrophysiology	81846	SBF2
HP:0001311	Abnormal nervous system electrophysiology	9150	CTDP1
HP:0410043	Abnormal neural tube morphology	57167	SALL4
HP:0410043	Abnormal neural tube morphology	57697	FANCM
HP:0410043	Abnormal neural tube morphology	1123	CHN1
HP:0410043	Abnormal neural tube morphology	2189	FANCG
HP:0410043	Abnormal neural tube morphology	57492	ARID1B
HP:0410043	Abnormal neural tube morphology	2006	ELN
HP:0410043	Abnormal neural tube morphology	6899	TBX1
HP:0012757	Abnormal neuron morphology	7443	VRK1
HP:0012757	Abnormal neuron morphology	80208	SPG11
HP:0011991	Abnormal neutrophil count	2189	FANCG
HP:0011991	Abnormal neutrophil count	4261	CIITA
HP:0011991	Abnormal neutrophil count	56262	LRRC8A
HP:0011991	Abnormal neutrophil count	1130	LYST
HP:0011991	Abnormal neutrophil count	4594	MUT
HP:0004404	Abnormal nipple morphology	6736	SRY
HP:0004404	Abnormal nipple morphology	57492	ARID1B
HP:0004404	Abnormal nipple morphology	1954	MEGF8
HP:0004404	Abnormal nipple morphology	23522	KAT6B
HP:0011064	Abnormal number of incisors	6496	SIX3
HP:0011064	Abnormal number of incisors	9775	EIF4A3
HP:0006483	Abnormal number of teeth	9775	EIF4A3
HP:0006483	Abnormal number of teeth	112752	IFT43
HP:0006483	Abnormal number of teeth	7341	SUMO1
HP:0006483	Abnormal number of teeth	5932	RBBP8
HP:0006483	Abnormal number of teeth	6496	SIX3
HP:0006483	Abnormal number of teeth	4488	MSX2
HP:0006483	Abnormal number of teeth	2006	ELN
HP:0000190	Abnormal oral frenulum morphology	613	BCR
HP:0009107	Abnormal ossification involving the femoral head and neck	126792	B3GALT6
HP:0031065	Abnormal ovarian morphology	6736	SRY
HP:0031065	Abnormal ovarian morphology	5506	PPP1R3A
HP:0031065	Abnormal ovarian morphology	118429	ANTXR2
HP:0031065	Abnormal ovarian morphology	2006	ELN
HP:0031065	Abnormal ovarian morphology	2778	GNAS
HP:0001018	Abnormal palmar dermatoglyphics	57492	ARID1B
HP:0001018	Abnormal palmar dermatoglyphics	79813	EHMT1
HP:0001018	Abnormal palmar dermatoglyphics	2254	FGF9
HP:0001018	Abnormal palmar dermatoglyphics	23522	KAT6B
HP:0002793	Abnormal pattern of respiration	7681	MKRN3
HP:0002793	Abnormal pattern of respiration	79600	TCTN1
HP:0002793	Abnormal pattern of respiration	3908	LAMA2
HP:0002793	Abnormal pattern of respiration	1908	EDN3
HP:0002793	Abnormal pattern of respiration	9184	BUB3
HP:0002793	Abnormal pattern of respiration	23522	KAT6B
HP:0003130	Abnormal peripheral myelination	410	ARSA
HP:0003130	Abnormal peripheral myelination	6305	SBF1
HP:0003130	Abnormal peripheral myelination	81846	SBF2
HP:0003130	Abnormal peripheral myelination	9150	CTDP1
HP:0003130	Abnormal peripheral myelination	80208	SPG11
HP:0000759	Abnormal peripheral nervous system morphology	5156	PDGFRA
HP:0000759	Abnormal peripheral nervous system morphology	1123	CHN1
HP:0000759	Abnormal peripheral nervous system morphology	1130	LYST
HP:0000759	Abnormal peripheral nervous system morphology	2189	FANCG
HP:0000759	Abnormal peripheral nervous system morphology	6305	SBF1
HP:0000759	Abnormal peripheral nervous system morphology	55532	SLC30A10
HP:0000759	Abnormal peripheral nervous system morphology	7443	VRK1
HP:0000759	Abnormal peripheral nervous system morphology	10516	FBLN5
HP:0000759	Abnormal peripheral nervous system morphology	80208	SPG11
HP:0000759	Abnormal peripheral nervous system morphology	57697	FANCM
HP:0000759	Abnormal peripheral nervous system morphology	80270	HSD3B7
HP:0000759	Abnormal peripheral nervous system morphology	410	ARSA
HP:0000759	Abnormal peripheral nervous system morphology	51660	MPC1
HP:0000759	Abnormal peripheral nervous system morphology	7681	MKRN3
HP:0000759	Abnormal peripheral nervous system morphology	6687	SPG7
HP:0000759	Abnormal peripheral nervous system morphology	8913	CACNA1G
HP:0000759	Abnormal peripheral nervous system morphology	3798	KIF5A
HP:0000759	Abnormal peripheral nervous system morphology	2778	GNAS
HP:0000759	Abnormal peripheral nervous system morphology	811	CALR
HP:0000759	Abnormal peripheral nervous system morphology	3908	LAMA2
HP:0000759	Abnormal peripheral nervous system morphology	57167	SALL4
HP:0000759	Abnormal peripheral nervous system morphology	283489	CHAMP1
HP:0000759	Abnormal peripheral nervous system morphology	1908	EDN3
HP:0000759	Abnormal peripheral nervous system morphology	2934	GSN
HP:0000759	Abnormal peripheral nervous system morphology	81846	SBF2
HP:0000759	Abnormal peripheral nervous system morphology	51128	SAR1B
HP:0000759	Abnormal peripheral nervous system morphology	9150	CTDP1
HP:0012767	Abnormal placental size	9652	TTC37
HP:0030402	Abnormal platelet aggregation	811	CALR
HP:0011873	Abnormal platelet count	613	BCR
HP:0011873	Abnormal platelet count	1130	LYST
HP:0011873	Abnormal platelet count	2189	FANCG
HP:0011873	Abnormal platelet count	6899	TBX1
HP:0011873	Abnormal platelet count	811	CALR
HP:0011873	Abnormal platelet count	22852	ANKRD26
HP:0011873	Abnormal platelet count	57167	SALL4
HP:0011873	Abnormal platelet count	25939	SAMHD1
HP:0011873	Abnormal platelet count	57697	FANCM
HP:0011873	Abnormal platelet count	6575	SLC20A2
HP:0011873	Abnormal platelet count	9652	TTC37
HP:0011873	Abnormal platelet count	7128	TNFAIP3
HP:0011873	Abnormal platelet count	4594	MUT
HP:0011869	Abnormal platelet function	2778	GNAS
HP:0011869	Abnormal platelet function	23522	KAT6B
HP:0011869	Abnormal platelet function	811	CALR
HP:0011875	Abnormal platelet morphology	811	CALR
HP:0011876	Abnormal platelet volume	9652	TTC37
HP:0002533	Abnormal posturing	1861	TOR1A
HP:0040086	Abnormal prolactin level	2778	GNAS
HP:0030966	Abnormal pulmonary artery morphology	78987	CRELD1
HP:0030966	Abnormal pulmonary artery morphology	7486	WRN
HP:0030966	Abnormal pulmonary artery morphology	2006	ELN
HP:0030966	Abnormal pulmonary artery morphology	23522	KAT6B
HP:0030966	Abnormal pulmonary artery morphology	112752	IFT43
HP:0001641	Abnormal pulmonary valve morphology	23522	KAT6B
HP:0001641	Abnormal pulmonary valve morphology	6899	TBX1
HP:0031654	Abnormal pulmonary valve physiology	10516	FBLN5
HP:0031654	Abnormal pulmonary valve physiology	9652	TTC37
HP:0031654	Abnormal pulmonary valve physiology	126792	B3GALT6
HP:0031654	Abnormal pulmonary valve physiology	2006	ELN
HP:0000615	Abnormal pupil morphology	1123	CHN1
HP:0007256	Abnormal pyramidal signs	6687	SPG7
HP:0007256	Abnormal pyramidal signs	4729	NDUFV2
HP:0007256	Abnormal pyramidal signs	8913	CACNA1G
HP:0007256	Abnormal pyramidal signs	3798	KIF5A
HP:0007256	Abnormal pyramidal signs	80208	SPG11
HP:0007256	Abnormal pyramidal signs	6531	SLC6A3
HP:0007256	Abnormal pyramidal signs	410	ARSA
HP:0007256	Abnormal pyramidal signs	6575	SLC20A2
HP:0007256	Abnormal pyramidal signs	9150	CTDP1
HP:0008776	Abnormal renal artery morphology	3949	LDLR
HP:0008776	Abnormal renal artery morphology	2006	ELN
HP:0031263	Abnormal renal corpuscle morphology	7225	TRPC6
HP:0031263	Abnormal renal corpuscle morphology	3426	CFI
HP:0012210	Abnormal renal morphology	7225	TRPC6
HP:0012210	Abnormal renal morphology	1123	CHN1
HP:0012210	Abnormal renal morphology	112752	IFT43
HP:0012210	Abnormal renal morphology	2189	FANCG
HP:0012210	Abnormal renal morphology	57492	ARID1B
HP:0012210	Abnormal renal morphology	57592	ZNF687
HP:0012210	Abnormal renal morphology	26873	OPLAH
HP:0012210	Abnormal renal morphology	10516	FBLN5
HP:0012210	Abnormal renal morphology	8516	ITGA8
HP:0012210	Abnormal renal morphology	57697	FANCM
HP:0012210	Abnormal renal morphology	3426	CFI
HP:0012210	Abnormal renal morphology	9652	TTC37
HP:0012210	Abnormal renal morphology	10682	EBP
HP:0012210	Abnormal renal morphology	4594	MUT
HP:0012210	Abnormal renal morphology	4645	MYO5B
HP:0012210	Abnormal renal morphology	6736	SRY
HP:0012210	Abnormal renal morphology	2778	GNAS
HP:0012210	Abnormal renal morphology	6899	TBX1
HP:0012210	Abnormal renal morphology	5932	RBBP8
HP:0012210	Abnormal renal morphology	64321	SOX17
HP:0012210	Abnormal renal morphology	57167	SALL4
HP:0012210	Abnormal renal morphology	10084	PQBP1
HP:0012210	Abnormal renal morphology	3949	LDLR
HP:0012210	Abnormal renal morphology	79813	EHMT1
HP:0012210	Abnormal renal morphology	2006	ELN
HP:0012210	Abnormal renal morphology	9184	BUB3
HP:0012210	Abnormal renal morphology	23522	KAT6B
HP:0012211	Abnormal renal physiology	7225	TRPC6
HP:0012211	Abnormal renal physiology	5230	PGK1
HP:0012211	Abnormal renal physiology	112752	IFT43
HP:0012211	Abnormal renal physiology	2189	FANCG
HP:0012211	Abnormal renal physiology	3257	HPS1
HP:0012211	Abnormal renal physiology	84189	SLITRK6
HP:0012211	Abnormal renal physiology	57697	FANCM
HP:0012211	Abnormal renal physiology	3426	CFI
HP:0012211	Abnormal renal physiology	3561	IL2RG
HP:0012211	Abnormal renal physiology	4594	MUT
HP:0012211	Abnormal renal physiology	4645	MYO5B
HP:0012211	Abnormal renal physiology	6736	SRY
HP:0012211	Abnormal renal physiology	2934	GSN
HP:0012211	Abnormal renal physiology	79813	EHMT1
HP:0012211	Abnormal renal physiology	2006	ELN
HP:0012243	Abnormal reproductive system morphology	8287	USP9Y
HP:0012243	Abnormal reproductive system morphology	8318	CDC45
HP:0012243	Abnormal reproductive system morphology	10370	CITED2
HP:0012243	Abnormal reproductive system morphology	2189	FANCG
HP:0012243	Abnormal reproductive system morphology	57492	ARID1B
HP:0012243	Abnormal reproductive system morphology	6295	SAG
HP:0012243	Abnormal reproductive system morphology	4361	MRE11
HP:0012243	Abnormal reproductive system morphology	8516	ITGA8
HP:0012243	Abnormal reproductive system morphology	57697	FANCM
HP:0012243	Abnormal reproductive system morphology	10682	EBP
HP:0012243	Abnormal reproductive system morphology	6736	SRY
HP:0012243	Abnormal reproductive system morphology	2778	GNAS
HP:0012243	Abnormal reproductive system morphology	64218	SEMA4A
HP:0012243	Abnormal reproductive system morphology	6899	TBX1
HP:0012243	Abnormal reproductive system morphology	9150	CTDP1
HP:0012243	Abnormal reproductive system morphology	7128	TNFAIP3
HP:0012243	Abnormal reproductive system morphology	9184	BUB3
HP:0012243	Abnormal reproductive system morphology	23522	KAT6B
HP:0012243	Abnormal reproductive system morphology	5148	PDE6G
HP:0012243	Abnormal reproductive system morphology	9361	LONP1
HP:0012243	Abnormal reproductive system morphology	7486	WRN
HP:0012243	Abnormal reproductive system morphology	5506	PPP1R3A
HP:0012243	Abnormal reproductive system morphology	7681	MKRN3
HP:0012243	Abnormal reproductive system morphology	1605	DAG1
HP:0012243	Abnormal reproductive system morphology	118429	ANTXR2
HP:0012243	Abnormal reproductive system morphology	5932	RBBP8
HP:0012243	Abnormal reproductive system morphology	126792	B3GALT6
HP:0012243	Abnormal reproductive system morphology	57167	SALL4
HP:0012243	Abnormal reproductive system morphology	10084	PQBP1
HP:0012243	Abnormal reproductive system morphology	346007	EYS
HP:0012243	Abnormal reproductive system morphology	1954	MEGF8
HP:0012243	Abnormal reproductive system morphology	79813	EHMT1
HP:0012243	Abnormal reproductive system morphology	2006	ELN
HP:0012243	Abnormal reproductive system morphology	51199	NIN
HP:0012252	Abnormal respiratory system morphology	112752	IFT43
HP:0012252	Abnormal respiratory system morphology	8318	CDC45
HP:0012252	Abnormal respiratory system morphology	2189	FANCG
HP:0012252	Abnormal respiratory system morphology	57492	ARID1B
HP:0012252	Abnormal respiratory system morphology	4261	CIITA
HP:0012252	Abnormal respiratory system morphology	10516	FBLN5
HP:0012252	Abnormal respiratory system morphology	8516	ITGA8
HP:0012252	Abnormal respiratory system morphology	57697	FANCM
HP:0012252	Abnormal respiratory system morphology	10682	EBP
HP:0012252	Abnormal respiratory system morphology	613	BCR
HP:0012252	Abnormal respiratory system morphology	10892	MALT1
HP:0012252	Abnormal respiratory system morphology	2799	GNS
HP:0012252	Abnormal respiratory system morphology	6899	TBX1
HP:0012252	Abnormal respiratory system morphology	283489	CHAMP1
HP:0012252	Abnormal respiratory system morphology	56262	LRRC8A
HP:0012252	Abnormal respiratory system morphology	9184	BUB3
HP:0012252	Abnormal respiratory system morphology	23522	KAT6B
HP:0012252	Abnormal respiratory system morphology	5156	PDGFRA
HP:0012252	Abnormal respiratory system morphology	9321	TRIP11
HP:0012252	Abnormal respiratory system morphology	1130	LYST
HP:0012252	Abnormal respiratory system morphology	78987	CRELD1
HP:0012252	Abnormal respiratory system morphology	9361	LONP1
HP:0012252	Abnormal respiratory system morphology	3257	HPS1
HP:0012252	Abnormal respiratory system morphology	7486	WRN
HP:0012252	Abnormal respiratory system morphology	3426	CFI
HP:0012252	Abnormal respiratory system morphology	3561	IL2RG
HP:0012252	Abnormal respiratory system morphology	1536	CYBB
HP:0012252	Abnormal respiratory system morphology	7681	MKRN3
HP:0012252	Abnormal respiratory system morphology	9775	EIF4A3
HP:0012252	Abnormal respiratory system morphology	3908	LAMA2
HP:0012252	Abnormal respiratory system morphology	79813	EHMT1
HP:0012252	Abnormal respiratory system morphology	2006	ELN
HP:0000630	Abnormal retinal artery morphology	2006	ELN
HP:0000630	Abnormal retinal artery morphology	6899	TBX1
HP:0000479	Abnormal retinal morphology	5130	PCYT1A
HP:0000479	Abnormal retinal morphology	5148	PDE6G
HP:0000479	Abnormal retinal morphology	1123	CHN1
HP:0000479	Abnormal retinal morphology	1130	LYST
HP:0000479	Abnormal retinal morphology	5230	PGK1
HP:0000479	Abnormal retinal morphology	6295	SAG
HP:0000479	Abnormal retinal morphology	1181	CLCN2
HP:0000479	Abnormal retinal morphology	10516	FBLN5
HP:0000479	Abnormal retinal morphology	10518	CIB2
HP:0000479	Abnormal retinal morphology	25913	POT1
HP:0000479	Abnormal retinal morphology	7486	WRN
HP:0000479	Abnormal retinal morphology	80208	SPG11
HP:0000479	Abnormal retinal morphology	4646	MYO6
HP:0000479	Abnormal retinal morphology	1605	DAG1
HP:0000479	Abnormal retinal morphology	124590	USH1G
HP:0000479	Abnormal retinal morphology	64218	SEMA4A
HP:0000479	Abnormal retinal morphology	83696	TRAPPC9
HP:0000479	Abnormal retinal morphology	6899	TBX1
HP:0000479	Abnormal retinal morphology	57167	SALL4
HP:0000479	Abnormal retinal morphology	1908	EDN3
HP:0000479	Abnormal retinal morphology	346007	EYS
HP:0000479	Abnormal retinal morphology	4023	LPL
HP:0000479	Abnormal retinal morphology	51128	SAR1B
HP:0000479	Abnormal retinal morphology	2006	ELN
HP:0001707	Abnormal right ventricle morphology	10617	STAMBP
HP:0000591	Abnormal sclera morphology	126792	B3GALT6
HP:0012856	Abnormal scrotal rugation	6736	SRY
HP:0025133	Abnormal serum estradiol	6736	SRY
HP:0025133	Abnormal serum estradiol	9150	CTDP1
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2778	GNAS
HP:0030087	Abnormal serum testosterone level	6736	SRY
HP:0012244	Abnormal sex determination	6736	SRY
HP:0011218	Abnormal shape of the frontal region	6660	SOX5
HP:0011218	Abnormal shape of the frontal region	9321	TRIP11
HP:0011218	Abnormal shape of the frontal region	112752	IFT43
HP:0011218	Abnormal shape of the frontal region	2189	FANCG
HP:0011218	Abnormal shape of the frontal region	2799	GNS
HP:0011218	Abnormal shape of the frontal region	83737	ITCH
HP:0011218	Abnormal shape of the frontal region	57697	FANCM
HP:0011218	Abnormal shape of the frontal region	4488	MSX2
HP:0011218	Abnormal shape of the frontal region	1954	MEGF8
HP:0011218	Abnormal shape of the frontal region	9652	TTC37
HP:0011218	Abnormal shape of the frontal region	10682	EBP
HP:0011218	Abnormal shape of the frontal region	9184	BUB3
HP:0011217	Abnormal shape of the occiput	83737	ITCH
HP:0011217	Abnormal shape of the occiput	79813	EHMT1
HP:0011217	Abnormal shape of the occiput	23522	KAT6B
HP:0011217	Abnormal shape of the occiput	112752	IFT43
HP:0200005	Abnormal shape of the palpebral fissure	7681	MKRN3
HP:0200005	Abnormal shape of the palpebral fissure	2189	FANCG
HP:0200005	Abnormal shape of the palpebral fissure	57697	FANCM
HP:0045008	Abnormal shape of the radius	126792	B3GALT6
HP:0040252	Abnormal size of the clitoris	6736	SRY
HP:0040252	Abnormal size of the clitoris	23522	KAT6B
HP:0040252	Abnormal size of the clitoris	8318	CDC45
HP:0200007	Abnormal size of the palpebral fissures	57167	SALL4
HP:0200007	Abnormal size of the palpebral fissures	57697	FANCM
HP:0200007	Abnormal size of the palpebral fissures	1123	CHN1
HP:0200007	Abnormal size of the palpebral fissures	613	BCR
HP:0200007	Abnormal size of the palpebral fissures	2189	FANCG
HP:0200007	Abnormal size of the palpebral fissures	57492	ARID1B
HP:0200007	Abnormal size of the palpebral fissures	2006	ELN
HP:0200007	Abnormal size of the palpebral fissures	23522	KAT6B
HP:0200007	Abnormal size of the palpebral fissures	6899	TBX1
HP:0012433	Abnormal social behavior	2006	ELN
HP:0011534	Abnormal spatial orientation of the cardiac segments	1954	MEGF8
HP:0011534	Abnormal spatial orientation of the cardiac segments	10084	PQBP1
HP:0011534	Abnormal spatial orientation of the cardiac segments	79600	TCTN1
HP:0008669	Abnormal spermatogenesis	6736	SRY
HP:0008669	Abnormal spermatogenesis	8287	USP9Y
HP:0008669	Abnormal spermatogenesis	57697	FANCM
HP:0008669	Abnormal spermatogenesis	2189	FANCG
HP:0025408	Abnormal spleen morphology	1536	CYBB
HP:0025408	Abnormal spleen morphology	5156	PDGFRA
HP:0025408	Abnormal spleen morphology	613	BCR
HP:0025408	Abnormal spleen morphology	1130	LYST
HP:0025408	Abnormal spleen morphology	2799	GNS
HP:0025408	Abnormal spleen morphology	6899	TBX1
HP:0025408	Abnormal spleen morphology	83737	ITCH
HP:0025408	Abnormal spleen morphology	811	CALR
HP:0025408	Abnormal spleen morphology	80270	HSD3B7
HP:0025408	Abnormal spleen morphology	1954	MEGF8
HP:0025408	Abnormal spleen morphology	4023	LPL
HP:0025408	Abnormal spleen morphology	3561	IL2RG
HP:0025408	Abnormal spleen morphology	4594	MUT
HP:0011004	Abnormal systemic arterial morphology	6736	SRY
HP:0011004	Abnormal systemic arterial morphology	613	BCR
HP:0011004	Abnormal systemic arterial morphology	78987	CRELD1
HP:0011004	Abnormal systemic arterial morphology	2189	FANCG
HP:0011004	Abnormal systemic arterial morphology	6899	TBX1
HP:0011004	Abnormal systemic arterial morphology	57592	ZNF687
HP:0011004	Abnormal systemic arterial morphology	10516	FBLN5
HP:0011004	Abnormal systemic arterial morphology	811	CALR
HP:0011004	Abnormal systemic arterial morphology	7486	WRN
HP:0011004	Abnormal systemic arterial morphology	57697	FANCM
HP:0011004	Abnormal systemic arterial morphology	3949	LDLR
HP:0011004	Abnormal systemic arterial morphology	6575	SLC20A2
HP:0011004	Abnormal systemic arterial morphology	79813	EHMT1
HP:0011004	Abnormal systemic arterial morphology	2006	ELN
HP:0011004	Abnormal systemic arterial morphology	9184	BUB3
HP:0011004	Abnormal systemic arterial morphology	4091	SMAD6
HP:0030972	Abnormal systemic blood pressure	5740	PTGIS
HP:0030972	Abnormal systemic blood pressure	2778	GNAS
HP:0030972	Abnormal systemic blood pressure	6899	TBX1
HP:0030972	Abnormal systemic blood pressure	8452	CUL3
HP:0030972	Abnormal systemic blood pressure	811	CALR
HP:0030972	Abnormal systemic blood pressure	7486	WRN
HP:0030972	Abnormal systemic blood pressure	8516	ITGA8
HP:0030972	Abnormal systemic blood pressure	3949	LDLR
HP:0030972	Abnormal systemic blood pressure	5506	PPP1R3A
HP:0030972	Abnormal systemic blood pressure	2006	ELN
HP:0030972	Abnormal systemic blood pressure	23534	TNPO3
HP:0030972	Abnormal systemic blood pressure	4091	SMAD6
HP:0009132	Abnormal tarsal bone mineral density	10682	EBP
HP:0008369	Abnormal tarsal ossification	10682	EBP
HP:0100261	Abnormal tendon morphology	1123	CHN1
HP:0100261	Abnormal tendon morphology	8318	CDC45
HP:0100261	Abnormal tendon morphology	57492	ARID1B
HP:0100261	Abnormal tendon morphology	7443	VRK1
HP:0100261	Abnormal tendon morphology	9526	MPDU1
HP:0100261	Abnormal tendon morphology	80208	SPG11
HP:0100261	Abnormal tendon morphology	25939	SAMHD1
HP:0100261	Abnormal tendon morphology	100128927	ZBTB42
HP:0100261	Abnormal tendon morphology	54820	NDE1
HP:0100261	Abnormal tendon morphology	1605	DAG1
HP:0100261	Abnormal tendon morphology	613	BCR
HP:0100261	Abnormal tendon morphology	118429	ANTXR2
HP:0100261	Abnormal tendon morphology	2799	GNS
HP:0100261	Abnormal tendon morphology	83737	ITCH
HP:0100261	Abnormal tendon morphology	3908	LAMA2
HP:0100261	Abnormal tendon morphology	126792	B3GALT6
HP:0100261	Abnormal tendon morphology	10084	PQBP1
HP:0100261	Abnormal tendon morphology	3949	LDLR
HP:0100261	Abnormal tendon morphology	1954	MEGF8
HP:0100261	Abnormal tendon morphology	9150	CTDP1
HP:0100261	Abnormal tendon morphology	2006	ELN
HP:0100261	Abnormal tendon morphology	23522	KAT6B
HP:0100261	Abnormal tendon morphology	5119	CHMP1A
HP:0500014	Abnormal test result	9992	KCNE2
HP:0500014	Abnormal test result	781	CACNA2D1
HP:0500014	Abnormal test result	3908	LAMA2
HP:0500014	Abnormal test result	6736	SRY
HP:0500014	Abnormal test result	79188	TMEM43
HP:0500014	Abnormal test result	2778	GNAS
HP:0001872	Abnormal thrombocyte morphology	613	BCR
HP:0001872	Abnormal thrombocyte morphology	1130	LYST
HP:0001872	Abnormal thrombocyte morphology	2189	FANCG
HP:0001872	Abnormal thrombocyte morphology	2778	GNAS
HP:0001872	Abnormal thrombocyte morphology	6899	TBX1
HP:0001872	Abnormal thrombocyte morphology	811	CALR
HP:0001872	Abnormal thrombocyte morphology	22852	ANKRD26
HP:0001872	Abnormal thrombocyte morphology	57167	SALL4
HP:0001872	Abnormal thrombocyte morphology	25939	SAMHD1
HP:0001872	Abnormal thrombocyte morphology	57697	FANCM
HP:0001872	Abnormal thrombocyte morphology	6575	SLC20A2
HP:0001872	Abnormal thrombocyte morphology	9652	TTC37
HP:0001872	Abnormal thrombocyte morphology	7128	TNFAIP3
HP:0001872	Abnormal thrombocyte morphology	23522	KAT6B
HP:0001872	Abnormal thrombocyte morphology	4594	MUT
HP:0001977	Abnormal thrombosis	5156	PDGFRA
HP:0001977	Abnormal thrombosis	811	CALR
HP:0008388	Abnormal toenail morphology	613	BCR
HP:0008388	Abnormal toenail morphology	112752	IFT43
HP:0008388	Abnormal toenail morphology	57492	ARID1B
HP:0008388	Abnormal toenail morphology	2006	ELN
HP:0030809	Abnormal tongue morphology	6660	SOX5
HP:0030809	Abnormal tongue morphology	613	BCR
HP:0030809	Abnormal tongue morphology	5932	RBBP8
HP:0030809	Abnormal tongue morphology	3908	LAMA2
HP:0030809	Abnormal tongue morphology	10084	PQBP1
HP:0030809	Abnormal tongue morphology	1909	EDNRA
HP:0030809	Abnormal tongue morphology	79813	EHMT1
HP:0030809	Abnormal tongue morphology	2006	ELN
HP:0001702	Abnormal tricuspid valve morphology	6899	TBX1
HP:0002127	Abnormal upper motor neuron morphology	80208	SPG11
HP:0012591	Abnormal urinary electrolyte concentration	2006	ELN
HP:0012614	Abnormal urine cytology	84189	SLITRK6
HP:0031105	Abnormal uterus morphology	2189	FANCG
HP:0031105	Abnormal uterus morphology	8516	ITGA8
HP:0031105	Abnormal uterus morphology	6736	SRY
HP:0031105	Abnormal uterus morphology	57697	FANCM
HP:0025015	Abnormal vascular morphology	112752	IFT43
HP:0025015	Abnormal vascular morphology	10370	CITED2
HP:0025015	Abnormal vascular morphology	78987	CRELD1
HP:0025015	Abnormal vascular morphology	2189	FANCG
HP:0025015	Abnormal vascular morphology	57492	ARID1B
HP:0025015	Abnormal vascular morphology	57592	ZNF687
HP:0025015	Abnormal vascular morphology	10516	FBLN5
HP:0025015	Abnormal vascular morphology	7486	WRN
HP:0025015	Abnormal vascular morphology	57697	FANCM
HP:0025015	Abnormal vascular morphology	3426	CFI
HP:0025015	Abnormal vascular morphology	5506	PPP1R3A
HP:0025015	Abnormal vascular morphology	6575	SLC20A2
HP:0025015	Abnormal vascular morphology	9652	TTC37
HP:0025015	Abnormal vascular morphology	6736	SRY
HP:0025015	Abnormal vascular morphology	613	BCR
HP:0025015	Abnormal vascular morphology	6899	TBX1
HP:0025015	Abnormal vascular morphology	811	CALR
HP:0025015	Abnormal vascular morphology	1837	DTNA
HP:0025015	Abnormal vascular morphology	57167	SALL4
HP:0025015	Abnormal vascular morphology	10084	PQBP1
HP:0025015	Abnormal vascular morphology	3949	LDLR
HP:0025015	Abnormal vascular morphology	1954	MEGF8
HP:0025015	Abnormal vascular morphology	79813	EHMT1
HP:0025015	Abnormal vascular morphology	2006	ELN
HP:0025015	Abnormal vascular morphology	9184	BUB3
HP:0025015	Abnormal vascular morphology	23522	KAT6B
HP:0025015	Abnormal vascular morphology	4091	SMAD6
HP:0030163	Abnormal vascular physiology	3908	LAMA2
HP:0002624	Abnormal venous morphology	5506	PPP1R3A
HP:0002624	Abnormal venous morphology	6899	TBX1
HP:0010438	Abnormal ventricular septum morphology	613	BCR
HP:0010438	Abnormal ventricular septum morphology	8318	CDC45
HP:0010438	Abnormal ventricular septum morphology	10370	CITED2
HP:0010438	Abnormal ventricular septum morphology	9361	LONP1
HP:0010438	Abnormal ventricular septum morphology	57492	ARID1B
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1
HP:0010438	Abnormal ventricular septum morphology	1837	DTNA
HP:0010438	Abnormal ventricular septum morphology	126792	B3GALT6
HP:0010438	Abnormal ventricular septum morphology	57167	SALL4
HP:0010438	Abnormal ventricular septum morphology	10084	PQBP1
HP:0010438	Abnormal ventricular septum morphology	10617	STAMBP
HP:0010438	Abnormal ventricular septum morphology	9652	TTC37
HP:0010438	Abnormal ventricular septum morphology	2006	ELN
HP:0010438	Abnormal ventricular septum morphology	23522	KAT6B
HP:0011563	Abnormal ventriculo-arterial connection	1954	MEGF8
HP:0011563	Abnormal ventriculo-arterial connection	6899	TBX1
HP:0003468	Abnormal vertebral morphology	6660	SOX5
HP:0003468	Abnormal vertebral morphology	5130	PCYT1A
HP:0003468	Abnormal vertebral morphology	1123	CHN1
HP:0003468	Abnormal vertebral morphology	9321	TRIP11
HP:0003468	Abnormal vertebral morphology	9361	LONP1
HP:0003468	Abnormal vertebral morphology	2799	GNS
HP:0003468	Abnormal vertebral morphology	79600	TCTN1
HP:0003468	Abnormal vertebral morphology	126792	B3GALT6
HP:0003468	Abnormal vertebral morphology	57167	SALL4
HP:0003468	Abnormal vertebral morphology	10682	EBP
HP:0003468	Abnormal vertebral morphology	2006	ELN
HP:0100569	Abnormal vertebral ossification	9321	TRIP11
HP:0005640	Abnormal vertebral segmentation and fusion	1123	CHN1
HP:0030453	Abnormal visual electrophysiology	5130	PCYT1A
HP:0030453	Abnormal visual electrophysiology	5148	PDE6G
HP:0030453	Abnormal visual electrophysiology	6295	SAG
HP:0030453	Abnormal visual electrophysiology	124590	USH1G
HP:0030453	Abnormal visual electrophysiology	64218	SEMA4A
HP:0030453	Abnormal visual electrophysiology	10518	CIB2
HP:0030453	Abnormal visual electrophysiology	3908	LAMA2
HP:0030453	Abnormal visual electrophysiology	346007	EYS
HP:0001194	Abnormalities of placenta or umbilical cord	9652	TTC37
HP:0000525	Abnormality iris morphology	7681	MKRN3
HP:0000525	Abnormality iris morphology	5130	PCYT1A
HP:0000525	Abnormality iris morphology	1605	DAG1
HP:0000525	Abnormality iris morphology	1123	CHN1
HP:0000525	Abnormality iris morphology	1130	LYST
HP:0000525	Abnormality iris morphology	2189	FANCG
HP:0000525	Abnormality iris morphology	124590	USH1G
HP:0000525	Abnormality iris morphology	3257	HPS1
HP:0000525	Abnormality iris morphology	79600	TCTN1
HP:0000525	Abnormality iris morphology	10518	CIB2
HP:0000525	Abnormality iris morphology	57167	SALL4
HP:0000525	Abnormality iris morphology	57697	FANCM
HP:0000525	Abnormality iris morphology	1908	EDN3
HP:0000525	Abnormality iris morphology	1414	CRYBB1
HP:0000525	Abnormality iris morphology	1421	CRYGD
HP:0000525	Abnormality iris morphology	2006	ELN
HP:0005372	Abnormality of B cell physiology	4261	CIITA
HP:0005372	Abnormality of B cell physiology	56262	LRRC8A
HP:0005372	Abnormality of B cell physiology	3561	IL2RG
HP:0005372	Abnormality of B cell physiology	23534	TNPO3
HP:0100685	Abnormality of Sharpey fibers	7486	WRN
HP:0011840	Abnormality of T cell physiology	4261	CIITA
HP:0011840	Abnormality of T cell physiology	6899	TBX1
HP:0001438	Abnormality of abdomen morphology	5156	PDGFRA
HP:0001438	Abnormality of abdomen morphology	1130	LYST
HP:0001438	Abnormality of abdomen morphology	55532	SLC30A10
HP:0001438	Abnormality of abdomen morphology	80270	HSD3B7
HP:0001438	Abnormality of abdomen morphology	6575	SLC20A2
HP:0001438	Abnormality of abdomen morphology	9652	TTC37
HP:0001438	Abnormality of abdomen morphology	445	ASS1
HP:0001438	Abnormality of abdomen morphology	51660	MPC1
HP:0001438	Abnormality of abdomen morphology	3561	IL2RG
HP:0001438	Abnormality of abdomen morphology	4594	MUT
HP:0001438	Abnormality of abdomen morphology	1536	CYBB
HP:0001438	Abnormality of abdomen morphology	613	BCR
HP:0001438	Abnormality of abdomen morphology	2799	GNS
HP:0001438	Abnormality of abdomen morphology	6899	TBX1
HP:0001438	Abnormality of abdomen morphology	83737	ITCH
HP:0001438	Abnormality of abdomen morphology	811	CALR
HP:0001438	Abnormality of abdomen morphology	2934	GSN
HP:0001438	Abnormality of abdomen morphology	4023	LPL
HP:0001438	Abnormality of abdomen morphology	9184	BUB3
HP:0001438	Abnormality of abdomen morphology	23522	KAT6B
HP:0001438	Abnormality of abdomen morphology	23534	TNPO3
HP:0004360	Abnormality of acid-base homeostasis	4645	MYO5B
HP:0004360	Abnormality of acid-base homeostasis	56922	MCCC1
HP:0004360	Abnormality of acid-base homeostasis	60528	ELAC2
HP:0004360	Abnormality of acid-base homeostasis	4729	NDUFV2
HP:0004360	Abnormality of acid-base homeostasis	3242	HPD
HP:0004360	Abnormality of acid-base homeostasis	8452	CUL3
HP:0004360	Abnormality of acid-base homeostasis	9997	SCO2
HP:0004360	Abnormality of acid-base homeostasis	23417	MLYCD
HP:0004360	Abnormality of acid-base homeostasis	445	ASS1
HP:0004360	Abnormality of acid-base homeostasis	51660	MPC1
HP:0004360	Abnormality of acid-base homeostasis	4594	MUT
HP:0011732	Abnormality of adrenal morphology	2778	GNAS
HP:0011732	Abnormality of adrenal morphology	6496	SIX3
HP:0011733	Abnormality of adrenal physiology	7681	MKRN3
HP:0011733	Abnormality of adrenal physiology	8452	CUL3
HP:0011733	Abnormality of adrenal physiology	6736	SRY
HP:0011733	Abnormality of adrenal physiology	56246	MRAP
HP:0011733	Abnormality of adrenal physiology	2778	GNAS
HP:0004379	Abnormality of alkaline phosphatase activity	23534	TNPO3
HP:0004379	Abnormality of alkaline phosphatase activity	57592	ZNF687
HP:0004337	Abnormality of amino acid metabolism	10841	FTCD
HP:0004337	Abnormality of amino acid metabolism	56922	MCCC1
HP:0004337	Abnormality of amino acid metabolism	3242	HPD
HP:0004337	Abnormality of amino acid metabolism	9652	TTC37
HP:0004337	Abnormality of amino acid metabolism	445	ASS1
HP:0004337	Abnormality of amino acid metabolism	4594	MUT
HP:0004337	Abnormality of amino acid metabolism	26873	OPLAH
HP:0010909	Abnormality of arginine metabolism	445	ASS1
HP:0004338	Abnormality of aromatic amino acid family metabolism	10841	FTCD
HP:0004338	Abnormality of aromatic amino acid family metabolism	3242	HPD
HP:0010899	Abnormality of aspartate family amino acid metabolism	9652	TTC37
HP:0001912	Abnormality of basophils	613	BCR
HP:0011514	Abnormality of binocular vision	8913	CACNA1G
HP:0025487	Abnormality of bladder morphology	57167	SALL4
HP:0025487	Abnormality of bladder morphology	10516	FBLN5
HP:0025487	Abnormality of bladder morphology	2006	ELN
HP:0001871	Abnormality of blood and blood-forming tissues	2189	FANCG
HP:0001871	Abnormality of blood and blood-forming tissues	4261	CIITA
HP:0001871	Abnormality of blood and blood-forming tissues	55532	SLC30A10
HP:0001871	Abnormality of blood and blood-forming tissues	22852	ANKRD26
HP:0001871	Abnormality of blood and blood-forming tissues	57697	FANCM
HP:0001871	Abnormality of blood and blood-forming tissues	29071	C1GALT1C1
HP:0001871	Abnormality of blood and blood-forming tissues	80270	HSD3B7
HP:0001871	Abnormality of blood and blood-forming tissues	6575	SLC20A2
HP:0001871	Abnormality of blood and blood-forming tissues	4594	MUT
HP:0001871	Abnormality of blood and blood-forming tissues	4607	MYBPC3
HP:0001871	Abnormality of blood and blood-forming tissues	10841	FTCD
HP:0001871	Abnormality of blood and blood-forming tissues	613	BCR
HP:0001871	Abnormality of blood and blood-forming tissues	2683	B4GALT1
HP:0001871	Abnormality of blood and blood-forming tissues	10892	MALT1
HP:0001871	Abnormality of blood and blood-forming tissues	2778	GNAS
HP:0001871	Abnormality of blood and blood-forming tissues	6899	TBX1
HP:0001871	Abnormality of blood and blood-forming tissues	811	CALR
HP:0001871	Abnormality of blood and blood-forming tissues	7018	TF
HP:0001871	Abnormality of blood and blood-forming tissues	56262	LRRC8A
HP:0001871	Abnormality of blood and blood-forming tissues	7128	TNFAIP3
HP:0001871	Abnormality of blood and blood-forming tissues	9184	BUB3
HP:0001871	Abnormality of blood and blood-forming tissues	23522	KAT6B
HP:0001871	Abnormality of blood and blood-forming tissues	23534	TNPO3
HP:0001871	Abnormality of blood and blood-forming tissues	5156	PDGFRA
HP:0001871	Abnormality of blood and blood-forming tissues	1130	LYST
HP:0001871	Abnormality of blood and blood-forming tissues	5230	PGK1
HP:0001871	Abnormality of blood and blood-forming tissues	3257	HPS1
HP:0001871	Abnormality of blood and blood-forming tissues	9526	MPDU1
HP:0001871	Abnormality of blood and blood-forming tissues	25939	SAMHD1
HP:0001871	Abnormality of blood and blood-forming tissues	9652	TTC37
HP:0001871	Abnormality of blood and blood-forming tissues	3561	IL2RG
HP:0001871	Abnormality of blood and blood-forming tissues	1536	CYBB
HP:0001871	Abnormality of blood and blood-forming tissues	1548	CYP2A6
HP:0001871	Abnormality of blood and blood-forming tissues	57167	SALL4
HP:0001871	Abnormality of blood and blood-forming tissues	79719	AAGAB
HP:0001871	Abnormality of blood and blood-forming tissues	51128	SAR1B
HP:0001871	Abnormality of blood and blood-forming tissues	2006	ELN
HP:0011028	Abnormality of blood circulation	5156	PDGFRA
HP:0011028	Abnormality of blood circulation	4645	MYO5B
HP:0011028	Abnormality of blood circulation	1130	LYST
HP:0011028	Abnormality of blood circulation	3257	HPS1
HP:0011028	Abnormality of blood circulation	6899	TBX1
HP:0011028	Abnormality of blood circulation	80270	HSD3B7
HP:0011028	Abnormality of blood circulation	2006	ELN
HP:0011028	Abnormality of blood circulation	4594	MUT
HP:0011015	Abnormality of blood glucose concentration	8516	ITGA8
HP:0011015	Abnormality of blood glucose concentration	56922	MCCC1
HP:0011015	Abnormality of blood glucose concentration	4729	NDUFV2
HP:0011015	Abnormality of blood glucose concentration	23417	MLYCD
HP:0011015	Abnormality of blood glucose concentration	5506	PPP1R3A
HP:0011015	Abnormality of blood glucose concentration	56246	MRAP
HP:0011015	Abnormality of blood glucose concentration	9150	CTDP1
HP:0011015	Abnormality of blood glucose concentration	51660	MPC1
HP:0011104	Abnormality of blood volume homeostasis	2006	ELN
HP:0011104	Abnormality of blood volume homeostasis	4645	MYO5B
HP:0000002	Abnormality of body height	112752	IFT43
HP:0000002	Abnormality of body height	8318	CDC45
HP:0000002	Abnormality of body height	2189	FANCG
HP:0000002	Abnormality of body height	57492	ARID1B
HP:0000002	Abnormality of body height	10516	FBLN5
HP:0000002	Abnormality of body height	57697	FANCM
HP:0000002	Abnormality of body height	10617	STAMBP
HP:0000002	Abnormality of body height	10682	EBP
HP:0000002	Abnormality of body height	6736	SRY
HP:0000002	Abnormality of body height	613	BCR
HP:0000002	Abnormality of body height	2778	GNAS
HP:0000002	Abnormality of body height	6899	TBX1
HP:0000002	Abnormality of body height	23394	ADNP
HP:0000002	Abnormality of body height	23417	MLYCD
HP:0000002	Abnormality of body height	9150	CTDP1
HP:0000002	Abnormality of body height	9184	BUB3
HP:0000002	Abnormality of body height	23522	KAT6B
HP:0000002	Abnormality of body height	5130	PCYT1A
HP:0000002	Abnormality of body height	9321	TRIP11
HP:0000002	Abnormality of body height	9361	LONP1
HP:0000002	Abnormality of body height	7486	WRN
HP:0000002	Abnormality of body height	9652	TTC37
HP:0000002	Abnormality of body height	7681	MKRN3
HP:0000002	Abnormality of body height	54820	NDE1
HP:0000002	Abnormality of body height	9775	EIF4A3
HP:0000002	Abnormality of body height	118429	ANTXR2
HP:0000002	Abnormality of body height	5932	RBBP8
HP:0000002	Abnormality of body height	126792	B3GALT6
HP:0000002	Abnormality of body height	57167	SALL4
HP:0000002	Abnormality of body height	10084	PQBP1
HP:0000002	Abnormality of body height	1908	EDN3
HP:0000002	Abnormality of body height	2006	ELN
HP:0000002	Abnormality of body height	51199	NIN
HP:0004323	Abnormality of body weight	8318	CDC45
HP:0004323	Abnormality of body weight	2189	FANCG
HP:0004323	Abnormality of body weight	57492	ARID1B
HP:0004323	Abnormality of body weight	6295	SAG
HP:0004323	Abnormality of body weight	4261	CIITA
HP:0004323	Abnormality of body weight	80208	SPG11
HP:0004323	Abnormality of body weight	57697	FANCM
HP:0004323	Abnormality of body weight	10617	STAMBP
HP:0004323	Abnormality of body weight	80270	HSD3B7
HP:0004323	Abnormality of body weight	10682	EBP
HP:0004323	Abnormality of body weight	445	ASS1
HP:0004323	Abnormality of body weight	4594	MUT
HP:0004323	Abnormality of body weight	113179	ADAT3
HP:0004323	Abnormality of body weight	6736	SRY
HP:0004323	Abnormality of body weight	4729	NDUFV2
HP:0004323	Abnormality of body weight	10892	MALT1
HP:0004323	Abnormality of body weight	2778	GNAS
HP:0004323	Abnormality of body weight	64218	SEMA4A
HP:0004323	Abnormality of body weight	6899	TBX1
HP:0004323	Abnormality of body weight	23394	ADNP
HP:0004323	Abnormality of body weight	56262	LRRC8A
HP:0004323	Abnormality of body weight	23522	KAT6B
HP:0004323	Abnormality of body weight	5148	PDE6G
HP:0004323	Abnormality of body weight	60528	ELAC2
HP:0004323	Abnormality of body weight	3242	HPD
HP:0004323	Abnormality of body weight	9526	MPDU1
HP:0004323	Abnormality of body weight	7486	WRN
HP:0004323	Abnormality of body weight	3394	IRF8
HP:0004323	Abnormality of body weight	9652	TTC37
HP:0004323	Abnormality of body weight	3561	IL2RG
HP:0004323	Abnormality of body weight	7681	MKRN3
HP:0004323	Abnormality of body weight	56922	MCCC1
HP:0004323	Abnormality of body weight	118429	ANTXR2
HP:0004323	Abnormality of body weight	83696	TRAPPC9
HP:0004323	Abnormality of body weight	5932	RBBP8
HP:0004323	Abnormality of body weight	3908	LAMA2
HP:0004323	Abnormality of body weight	126792	B3GALT6
HP:0004323	Abnormality of body weight	1908	EDN3
HP:0004323	Abnormality of body weight	346007	EYS
HP:0004323	Abnormality of body weight	1954	MEGF8
HP:0004323	Abnormality of body weight	51128	SAR1B
HP:0004323	Abnormality of body weight	79813	EHMT1
HP:0004323	Abnormality of body weight	2006	ELN
HP:0005561	Abnormality of bone marrow cell morphology	811	CALR
HP:0005561	Abnormality of bone marrow cell morphology	1130	LYST
HP:0004348	Abnormality of bone mineral density	112752	IFT43
HP:0004348	Abnormality of bone mineral density	2189	FANCG
HP:0004348	Abnormality of bone mineral density	10516	FBLN5
HP:0004348	Abnormality of bone mineral density	7486	WRN
HP:0004348	Abnormality of bone mineral density	57697	FANCM
HP:0004348	Abnormality of bone mineral density	80270	HSD3B7
HP:0004348	Abnormality of bone mineral density	10682	EBP
HP:0004348	Abnormality of bone mineral density	7681	MKRN3
HP:0004348	Abnormality of bone mineral density	6736	SRY
HP:0004348	Abnormality of bone mineral density	10892	MALT1
HP:0004348	Abnormality of bone mineral density	118429	ANTXR2
HP:0004348	Abnormality of bone mineral density	2778	GNAS
HP:0004348	Abnormality of bone mineral density	126792	B3GALT6
HP:0004348	Abnormality of bone mineral density	9150	CTDP1
HP:0004348	Abnormality of bone mineral density	2006	ELN
HP:0004348	Abnormality of bone mineral density	23534	TNPO3
HP:0012443	Abnormality of brain morphology	8318	CDC45
HP:0012443	Abnormality of brain morphology	57492	ARID1B
HP:0012443	Abnormality of brain morphology	4361	MRE11
HP:0012443	Abnormality of brain morphology	57697	FANCM
HP:0012443	Abnormality of brain morphology	410	ARSA
HP:0012443	Abnormality of brain morphology	445	ASS1
HP:0012443	Abnormality of brain morphology	4594	MUT
HP:0012443	Abnormality of brain morphology	613	BCR
HP:0012443	Abnormality of brain morphology	4729	NDUFV2
HP:0012443	Abnormality of brain morphology	8913	CACNA1G
HP:0012443	Abnormality of brain morphology	811	CALR
HP:0012443	Abnormality of brain morphology	283489	CHAMP1
HP:0012443	Abnormality of brain morphology	9150	CTDP1
HP:0012443	Abnormality of brain morphology	9184	BUB3
HP:0012443	Abnormality of brain morphology	5119	CHMP1A
HP:0012443	Abnormality of brain morphology	5130	PCYT1A
HP:0012443	Abnormality of brain morphology	1123	CHN1
HP:0012443	Abnormality of brain morphology	1130	LYST
HP:0012443	Abnormality of brain morphology	5230	PGK1
HP:0012443	Abnormality of brain morphology	9361	LONP1
HP:0012443	Abnormality of brain morphology	1181	CLCN2
HP:0012443	Abnormality of brain morphology	9526	MPDU1
HP:0012443	Abnormality of brain morphology	25939	SAMHD1
HP:0012443	Abnormality of brain morphology	54820	NDE1
HP:0012443	Abnormality of brain morphology	1605	DAG1
HP:0012443	Abnormality of brain morphology	5723	PSPH
HP:0012443	Abnormality of brain morphology	124590	USH1G
HP:0012443	Abnormality of brain morphology	83696	TRAPPC9
HP:0012443	Abnormality of brain morphology	79600	TCTN1
HP:0012443	Abnormality of brain morphology	9997	SCO2
HP:0012443	Abnormality of brain morphology	5932	RBBP8
HP:0012443	Abnormality of brain morphology	10084	PQBP1
HP:0012443	Abnormality of brain morphology	1908	EDN3
HP:0012443	Abnormality of brain morphology	1917	EEF1A2
HP:0012443	Abnormality of brain morphology	55180	LINS1
HP:0012443	Abnormality of brain morphology	255928	SYT14
HP:0012443	Abnormality of brain morphology	79813	EHMT1
HP:0012443	Abnormality of brain morphology	2006	ELN
HP:0012443	Abnormality of brain morphology	51199	NIN
HP:0012443	Abnormality of brain morphology	10300	KATNB1
HP:0012443	Abnormality of brain morphology	2189	FANCG
HP:0012443	Abnormality of brain morphology	6305	SBF1
HP:0012443	Abnormality of brain morphology	10516	FBLN5
HP:0012443	Abnormality of brain morphology	10518	CIB2
HP:0012443	Abnormality of brain morphology	80208	SPG11
HP:0012443	Abnormality of brain morphology	6496	SIX3
HP:0012443	Abnormality of brain morphology	10617	STAMBP
HP:0012443	Abnormality of brain morphology	6575	SLC20A2
HP:0012443	Abnormality of brain morphology	10682	EBP
HP:0012443	Abnormality of brain morphology	51660	MPC1
HP:0012443	Abnormality of brain morphology	6660	SOX5
HP:0012443	Abnormality of brain morphology	2566	GABRG2
HP:0012443	Abnormality of brain morphology	113179	ADAT3
HP:0012443	Abnormality of brain morphology	6687	SPG7
HP:0012443	Abnormality of brain morphology	6736	SRY
HP:0012443	Abnormality of brain morphology	2683	B4GALT1
HP:0012443	Abnormality of brain morphology	27286	SRPX2
HP:0012443	Abnormality of brain morphology	2778	GNAS
HP:0012443	Abnormality of brain morphology	6899	TBX1
HP:0012443	Abnormality of brain morphology	23417	MLYCD
HP:0012443	Abnormality of brain morphology	23522	KAT6B
HP:0012443	Abnormality of brain morphology	60528	ELAC2
HP:0012443	Abnormality of brain morphology	7443	VRK1
HP:0012443	Abnormality of brain morphology	7486	WRN
HP:0012443	Abnormality of brain morphology	7546	ZIC2
HP:0012443	Abnormality of brain morphology	7681	MKRN3
HP:0012443	Abnormality of brain morphology	56922	MCCC1
HP:0012443	Abnormality of brain morphology	3798	KIF5A
HP:0012443	Abnormality of brain morphology	3908	LAMA2
HP:0012443	Abnormality of brain morphology	3949	LDLR
HP:0002363	Abnormality of brainstem morphology	7443	VRK1
HP:0002363	Abnormality of brainstem morphology	54820	NDE1
HP:0002363	Abnormality of brainstem morphology	3908	LAMA2
HP:0002363	Abnormality of brainstem morphology	5119	CHMP1A
HP:0010892	Abnormality of branched chain family amino acid metabolism	56922	MCCC1
HP:0004363	Abnormality of calcium homeostasis	2006	ELN
HP:0004363	Abnormality of calcium homeostasis	2778	GNAS
HP:0004363	Abnormality of calcium homeostasis	6899	TBX1
HP:0100530	Abnormality of calcium-phosphate metabolism	2778	GNAS
HP:0002648	Abnormality of calvarial morphology	1123	CHN1
HP:0002648	Abnormality of calvarial morphology	9321	TRIP11
HP:0002648	Abnormality of calvarial morphology	112752	IFT43
HP:0002648	Abnormality of calvarial morphology	8318	CDC45
HP:0002648	Abnormality of calvarial morphology	10370	CITED2
HP:0002648	Abnormality of calvarial morphology	2189	FANCG
HP:0002648	Abnormality of calvarial morphology	9361	LONP1
HP:0002648	Abnormality of calvarial morphology	57492	ARID1B
HP:0002648	Abnormality of calvarial morphology	25939	SAMHD1
HP:0002648	Abnormality of calvarial morphology	57697	FANCM
HP:0002648	Abnormality of calvarial morphology	7546	ZIC2
HP:0002648	Abnormality of calvarial morphology	4488	MSX2
HP:0002648	Abnormality of calvarial morphology	9652	TTC37
HP:0002648	Abnormality of calvarial morphology	10682	EBP
HP:0002648	Abnormality of calvarial morphology	7681	MKRN3
HP:0002648	Abnormality of calvarial morphology	6660	SOX5
HP:0002648	Abnormality of calvarial morphology	2799	GNS
HP:0002648	Abnormality of calvarial morphology	83696	TRAPPC9
HP:0002648	Abnormality of calvarial morphology	79600	TCTN1
HP:0002648	Abnormality of calvarial morphology	6899	TBX1
HP:0002648	Abnormality of calvarial morphology	83737	ITCH
HP:0002648	Abnormality of calvarial morphology	5932	RBBP8
HP:0002648	Abnormality of calvarial morphology	10084	PQBP1
HP:0002648	Abnormality of calvarial morphology	1954	MEGF8
HP:0002648	Abnormality of calvarial morphology	79813	EHMT1
HP:0002648	Abnormality of calvarial morphology	9184	BUB3
HP:0002648	Abnormality of calvarial morphology	23522	KAT6B
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	5148	PDE6G
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	6295	SAG
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	7486	WRN
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	8516	ITGA8
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	5506	PPP1R3A
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	9652	TTC37
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	51660	MPC1
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	7681	MKRN3
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	56922	MCCC1
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	4729	NDUFV2
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	2778	GNAS
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	64218	SEMA4A
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	2799	GNS
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	23417	MLYCD
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	346007	EYS
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	56246	MRAP
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	9150	CTDP1
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis	2006	ELN
HP:0004354	Abnormality of carboxylic acid metabolism	10841	FTCD
HP:0004354	Abnormality of carboxylic acid metabolism	56922	MCCC1
HP:0004354	Abnormality of carboxylic acid metabolism	3242	HPD
HP:0004354	Abnormality of carboxylic acid metabolism	26873	OPLAH
HP:0004354	Abnormality of carboxylic acid metabolism	9652	TTC37
HP:0004354	Abnormality of carboxylic acid metabolism	445	ASS1
HP:0004354	Abnormality of carboxylic acid metabolism	4594	MUT
HP:0030956	Abnormality of cardiovascular system electrophysiology	6736	SRY
HP:0030956	Abnormality of cardiovascular system electrophysiology	2778	GNAS
HP:0030956	Abnormality of cardiovascular system electrophysiology	9992	KCNE2
HP:0030956	Abnormality of cardiovascular system electrophysiology	781	CACNA2D1
HP:0030956	Abnormality of cardiovascular system electrophysiology	10516	FBLN5
HP:0030956	Abnormality of cardiovascular system electrophysiology	1837	DTNA
HP:0030956	Abnormality of cardiovascular system electrophysiology	3908	LAMA2
HP:0030956	Abnormality of cardiovascular system electrophysiology	57167	SALL4
HP:0030956	Abnormality of cardiovascular system electrophysiology	79188	TMEM43
HP:0030956	Abnormality of cardiovascular system electrophysiology	3949	LDLR
HP:0030956	Abnormality of cardiovascular system electrophysiology	2006	ELN
HP:0030956	Abnormality of cardiovascular system electrophysiology	23522	KAT6B
HP:0030680	Abnormality of cardiovascular system morphology	112752	IFT43
HP:0030680	Abnormality of cardiovascular system morphology	8318	CDC45
HP:0030680	Abnormality of cardiovascular system morphology	10370	CITED2
HP:0030680	Abnormality of cardiovascular system morphology	2189	FANCG
HP:0030680	Abnormality of cardiovascular system morphology	57492	ARID1B
HP:0030680	Abnormality of cardiovascular system morphology	57592	ZNF687
HP:0030680	Abnormality of cardiovascular system morphology	10516	FBLN5
HP:0030680	Abnormality of cardiovascular system morphology	6443	SGCB
HP:0030680	Abnormality of cardiovascular system morphology	8516	ITGA8
HP:0030680	Abnormality of cardiovascular system morphology	57697	FANCM
HP:0030680	Abnormality of cardiovascular system morphology	10617	STAMBP
HP:0030680	Abnormality of cardiovascular system morphology	6575	SLC20A2
HP:0030680	Abnormality of cardiovascular system morphology	4594	MUT
HP:0030680	Abnormality of cardiovascular system morphology	4607	MYBPC3
HP:0030680	Abnormality of cardiovascular system morphology	6736	SRY
HP:0030680	Abnormality of cardiovascular system morphology	613	BCR
HP:0030680	Abnormality of cardiovascular system morphology	4729	NDUFV2
HP:0030680	Abnormality of cardiovascular system morphology	2778	GNAS
HP:0030680	Abnormality of cardiovascular system morphology	2799	GNS
HP:0030680	Abnormality of cardiovascular system morphology	6899	TBX1
HP:0030680	Abnormality of cardiovascular system morphology	811	CALR
HP:0030680	Abnormality of cardiovascular system morphology	23394	ADNP
HP:0030680	Abnormality of cardiovascular system morphology	2934	GSN
HP:0030680	Abnormality of cardiovascular system morphology	23417	MLYCD
HP:0030680	Abnormality of cardiovascular system morphology	9184	BUB3
HP:0030680	Abnormality of cardiovascular system morphology	23522	KAT6B
HP:0030680	Abnormality of cardiovascular system morphology	5156	PDGFRA
HP:0030680	Abnormality of cardiovascular system morphology	1123	CHN1
HP:0030680	Abnormality of cardiovascular system morphology	9321	TRIP11
HP:0030680	Abnormality of cardiovascular system morphology	1130	LYST
HP:0030680	Abnormality of cardiovascular system morphology	60528	ELAC2
HP:0030680	Abnormality of cardiovascular system morphology	78987	CRELD1
HP:0030680	Abnormality of cardiovascular system morphology	9361	LONP1
HP:0030680	Abnormality of cardiovascular system morphology	3257	HPS1
HP:0030680	Abnormality of cardiovascular system morphology	7486	WRN
HP:0030680	Abnormality of cardiovascular system morphology	79188	TMEM43
HP:0030680	Abnormality of cardiovascular system morphology	3426	CFI
HP:0030680	Abnormality of cardiovascular system morphology	5506	PPP1R3A
HP:0030680	Abnormality of cardiovascular system morphology	9652	TTC37
HP:0030680	Abnormality of cardiovascular system morphology	79600	TCTN1
HP:0030680	Abnormality of cardiovascular system morphology	9997	SCO2
HP:0030680	Abnormality of cardiovascular system morphology	1837	DTNA
HP:0030680	Abnormality of cardiovascular system morphology	3908	LAMA2
HP:0030680	Abnormality of cardiovascular system morphology	126792	B3GALT6
HP:0030680	Abnormality of cardiovascular system morphology	57167	SALL4
HP:0030680	Abnormality of cardiovascular system morphology	10084	PQBP1
HP:0030680	Abnormality of cardiovascular system morphology	3949	LDLR
HP:0030680	Abnormality of cardiovascular system morphology	1909	EDNRA
HP:0030680	Abnormality of cardiovascular system morphology	1954	MEGF8
HP:0030680	Abnormality of cardiovascular system morphology	79813	EHMT1
HP:0030680	Abnormality of cardiovascular system morphology	2006	ELN
HP:0030680	Abnormality of cardiovascular system morphology	4091	SMAD6
HP:0011025	Abnormality of cardiovascular system physiology	8452	CUL3
HP:0011025	Abnormality of cardiovascular system physiology	10516	FBLN5
HP:0011025	Abnormality of cardiovascular system physiology	8516	ITGA8
HP:0011025	Abnormality of cardiovascular system physiology	80270	HSD3B7
HP:0011025	Abnormality of cardiovascular system physiology	10682	EBP
HP:0011025	Abnormality of cardiovascular system physiology	4594	MUT
HP:0011025	Abnormality of cardiovascular system physiology	6660	SOX5
HP:0011025	Abnormality of cardiovascular system physiology	4645	MYO5B
HP:0011025	Abnormality of cardiovascular system physiology	6736	SRY
HP:0011025	Abnormality of cardiovascular system physiology	613	BCR
HP:0011025	Abnormality of cardiovascular system physiology	2778	GNAS
HP:0011025	Abnormality of cardiovascular system physiology	6899	TBX1
HP:0011025	Abnormality of cardiovascular system physiology	781	CACNA2D1
HP:0011025	Abnormality of cardiovascular system physiology	811	CALR
HP:0011025	Abnormality of cardiovascular system physiology	7018	TF
HP:0011025	Abnormality of cardiovascular system physiology	9184	BUB3
HP:0011025	Abnormality of cardiovascular system physiology	23522	KAT6B
HP:0011025	Abnormality of cardiovascular system physiology	23534	TNPO3
HP:0011025	Abnormality of cardiovascular system physiology	5156	PDGFRA
HP:0011025	Abnormality of cardiovascular system physiology	1130	LYST
HP:0011025	Abnormality of cardiovascular system physiology	60528	ELAC2
HP:0011025	Abnormality of cardiovascular system physiology	3257	HPS1
HP:0011025	Abnormality of cardiovascular system physiology	7486	WRN
HP:0011025	Abnormality of cardiovascular system physiology	79188	TMEM43
HP:0011025	Abnormality of cardiovascular system physiology	5506	PPP1R3A
HP:0011025	Abnormality of cardiovascular system physiology	9652	TTC37
HP:0011025	Abnormality of cardiovascular system physiology	5740	PTGIS
HP:0011025	Abnormality of cardiovascular system physiology	9992	KCNE2
HP:0011025	Abnormality of cardiovascular system physiology	5932	RBBP8
HP:0011025	Abnormality of cardiovascular system physiology	1837	DTNA
HP:0011025	Abnormality of cardiovascular system physiology	3908	LAMA2
HP:0011025	Abnormality of cardiovascular system physiology	126792	B3GALT6
HP:0011025	Abnormality of cardiovascular system physiology	57167	SALL4
HP:0011025	Abnormality of cardiovascular system physiology	3949	LDLR
HP:0011025	Abnormality of cardiovascular system physiology	4023	LPL
HP:0011025	Abnormality of cardiovascular system physiology	79813	EHMT1
HP:0011025	Abnormality of cardiovascular system physiology	2006	ELN
HP:0011025	Abnormality of cardiovascular system physiology	4091	SMAD6
HP:0006257	Abnormality of carpal bone ossification	126792	B3GALT6
HP:0006257	Abnormality of carpal bone ossification	9361	LONP1
HP:0006257	Abnormality of carpal bone ossification	10682	EBP
HP:0410007	Abnormality of cartilage morphology	6496	SIX3
HP:3000034	Abnormality of cartilage of nasal septum	6496	SIX3
HP:0010929	Abnormality of cation homeostasis	2778	GNAS
HP:0010929	Abnormality of cation homeostasis	55532	SLC30A10
HP:0010929	Abnormality of cation homeostasis	6899	TBX1
HP:0010929	Abnormality of cation homeostasis	8452	CUL3
HP:0010929	Abnormality of cation homeostasis	9652	TTC37
HP:0010929	Abnormality of cation homeostasis	2006	ELN
HP:0011017	Abnormality of cell physiology	1536	CYBB
HP:0011017	Abnormality of cell physiology	4729	NDUFV2
HP:0011017	Abnormality of cell physiology	2189	FANCG
HP:0011017	Abnormality of cell physiology	4261	CIITA
HP:0011017	Abnormality of cell physiology	6899	TBX1
HP:0011017	Abnormality of cell physiology	57697	FANCM
HP:0011017	Abnormality of cell physiology	56262	LRRC8A
HP:0011017	Abnormality of cell physiology	3561	IL2RG
HP:0011017	Abnormality of cell physiology	23534	TNPO3
HP:0010987	Abnormality of cellular immune system	5156	PDGFRA
HP:0010987	Abnormality of cellular immune system	1130	LYST
HP:0010987	Abnormality of cellular immune system	2189	FANCG
HP:0010987	Abnormality of cellular immune system	4261	CIITA
HP:0010987	Abnormality of cellular immune system	57697	FANCM
HP:0010987	Abnormality of cellular immune system	3561	IL2RG
HP:0010987	Abnormality of cellular immune system	4594	MUT
HP:0010987	Abnormality of cellular immune system	4607	MYBPC3
HP:0010987	Abnormality of cellular immune system	1536	CYBB
HP:0010987	Abnormality of cellular immune system	10841	FTCD
HP:0010987	Abnormality of cellular immune system	613	BCR
HP:0010987	Abnormality of cellular immune system	811	CALR
HP:0010987	Abnormality of cellular immune system	57167	SALL4
HP:0010987	Abnormality of cellular immune system	56262	LRRC8A
HP:0010987	Abnormality of cellular immune system	7128	TNFAIP3
HP:0010987	Abnormality of cellular immune system	9184	BUB3
HP:0010987	Abnormality of cellular immune system	23534	TNPO3
HP:0011442	Abnormality of central motor function	10300	KATNB1
HP:0011442	Abnormality of central motor function	2189	FANCG
HP:0011442	Abnormality of central motor function	6295	SAG
HP:0011442	Abnormality of central motor function	55532	SLC30A10
HP:0011442	Abnormality of central motor function	4361	MRE11
HP:0011442	Abnormality of central motor function	10518	CIB2
HP:0011442	Abnormality of central motor function	288	ANK3
HP:0011442	Abnormality of central motor function	80208	SPG11
HP:0011442	Abnormality of central motor function	57697	FANCM
HP:0011442	Abnormality of central motor function	10617	STAMBP
HP:0011442	Abnormality of central motor function	6531	SLC6A3
HP:0011442	Abnormality of central motor function	410	ARSA
HP:0011442	Abnormality of central motor function	6575	SLC20A2
HP:0011442	Abnormality of central motor function	445	ASS1
HP:0011442	Abnormality of central motor function	4594	MUT
HP:0011442	Abnormality of central motor function	2566	GABRG2
HP:0011442	Abnormality of central motor function	6687	SPG7
HP:0011442	Abnormality of central motor function	613	BCR
HP:0011442	Abnormality of central motor function	4729	NDUFV2
HP:0011442	Abnormality of central motor function	27286	SRPX2
HP:0011442	Abnormality of central motor function	8913	CACNA1G
HP:0011442	Abnormality of central motor function	64218	SEMA4A
HP:0011442	Abnormality of central motor function	283489	CHAMP1
HP:0011442	Abnormality of central motor function	9150	CTDP1
HP:0011442	Abnormality of central motor function	5119	CHMP1A
HP:0011442	Abnormality of central motor function	5130	PCYT1A
HP:0011442	Abnormality of central motor function	5148	PDE6G
HP:0011442	Abnormality of central motor function	1130	LYST
HP:0011442	Abnormality of central motor function	5230	PGK1
HP:0011442	Abnormality of central motor function	1181	CLCN2
HP:0011442	Abnormality of central motor function	7443	VRK1
HP:0011442	Abnormality of central motor function	9526	MPDU1
HP:0011442	Abnormality of central motor function	25913	POT1
HP:0011442	Abnormality of central motor function	25939	SAMHD1
HP:0011442	Abnormality of central motor function	7681	MKRN3
HP:0011442	Abnormality of central motor function	54820	NDE1
HP:0011442	Abnormality of central motor function	56922	MCCC1
HP:0011442	Abnormality of central motor function	5723	PSPH
HP:0011442	Abnormality of central motor function	124590	USH1G
HP:0011442	Abnormality of central motor function	3798	KIF5A
HP:0011442	Abnormality of central motor function	79600	TCTN1
HP:0011442	Abnormality of central motor function	7957	EPM2A
HP:0011442	Abnormality of central motor function	1861	TOR1A
HP:0011442	Abnormality of central motor function	126792	B3GALT6
HP:0011442	Abnormality of central motor function	10084	PQBP1
HP:0011442	Abnormality of central motor function	55180	LINS1
HP:0011442	Abnormality of central motor function	346007	EYS
HP:0011442	Abnormality of central motor function	255928	SYT14
HP:0011442	Abnormality of central motor function	2006	ELN
HP:0030178	Abnormality of central nervous system electrophysiology	2566	GABRG2
HP:0030178	Abnormality of central nervous system electrophysiology	1917	EEF1A2
HP:0011422	Abnormality of chloride homeostasis	8452	CUL3
HP:0003107	Abnormality of cholesterol metabolism	5506	PPP1R3A
HP:0003107	Abnormality of cholesterol metabolism	80270	HSD3B7
HP:0003107	Abnormality of cholesterol metabolism	4023	LPL
HP:0003107	Abnormality of cholesterol metabolism	51128	SAR1B
HP:0003107	Abnormality of cholesterol metabolism	10682	EBP
HP:0003107	Abnormality of cholesterol metabolism	3949	LDLR
HP:0003220	Abnormality of chromosome stability	2189	FANCG
HP:0003220	Abnormality of chromosome stability	57697	FANCM
HP:0011043	Abnormality of circulating adrenocorticotropin level	2778	GNAS
HP:0011043	Abnormality of circulating adrenocorticotropin level	56246	MRAP
HP:0011731	Abnormality of circulating cortisol level	2778	GNAS
HP:0011731	Abnormality of circulating cortisol level	56246	MRAP
HP:0011021	Abnormality of circulating enzyme level	1605	DAG1
HP:0011021	Abnormality of circulating enzyme level	2683	B4GALT1
HP:0011021	Abnormality of circulating enzyme level	6443	SGCB
HP:0011021	Abnormality of circulating enzyme level	3908	LAMA2
HP:0011021	Abnormality of circulating enzyme level	2006	ELN
HP:0011021	Abnormality of circulating enzyme level	4607	MYBPC3
HP:0012111	Abnormality of circulating glucocorticoid level	2778	GNAS
HP:0012111	Abnormality of circulating glucocorticoid level	56246	MRAP
HP:0003117	Abnormality of circulating hormone level	7681	MKRN3
HP:0003117	Abnormality of circulating hormone level	5148	PDE6G
HP:0003117	Abnormality of circulating hormone level	6736	SRY
HP:0003117	Abnormality of circulating hormone level	6295	SAG
HP:0003117	Abnormality of circulating hormone level	2778	GNAS
HP:0003117	Abnormality of circulating hormone level	64218	SEMA4A
HP:0003117	Abnormality of circulating hormone level	5506	PPP1R3A
HP:0003117	Abnormality of circulating hormone level	346007	EYS
HP:0003117	Abnormality of circulating hormone level	56246	MRAP
HP:0003117	Abnormality of circulating hormone level	9150	CTDP1
HP:0010876	Abnormality of circulating protein level	1605	DAG1
HP:0010876	Abnormality of circulating protein level	2683	B4GALT1
HP:0010876	Abnormality of circulating protein level	6443	SGCB
HP:0010876	Abnormality of circulating protein level	3908	LAMA2
HP:0010876	Abnormality of circulating protein level	7018	TF
HP:0010876	Abnormality of circulating protein level	9652	TTC37
HP:0010876	Abnormality of circulating protein level	51128	SAR1B
HP:0010876	Abnormality of circulating protein level	2006	ELN
HP:0010876	Abnormality of circulating protein level	23534	TNPO3
HP:0010876	Abnormality of circulating protein level	4607	MYBPC3
HP:0001928	Abnormality of coagulation	9526	MPDU1
HP:0001928	Abnormality of coagulation	1130	LYST
HP:0001928	Abnormality of coagulation	2683	B4GALT1
HP:0001928	Abnormality of coagulation	80270	HSD3B7
HP:0001928	Abnormality of coagulation	23522	KAT6B
HP:0000551	Abnormality of color vision	5130	PCYT1A
HP:0000551	Abnormality of color vision	64218	SEMA4A
HP:0005339	Abnormality of complement system	3426	CFI
HP:0005339	Abnormality of complement system	730	C7
HP:0003549	Abnormality of connective tissue	112752	IFT43
HP:0003549	Abnormality of connective tissue	8318	CDC45
HP:0003549	Abnormality of connective tissue	2189	FANCG
HP:0003549	Abnormality of connective tissue	57492	ARID1B
HP:0003549	Abnormality of connective tissue	6295	SAG
HP:0003549	Abnormality of connective tissue	10516	FBLN5
HP:0003549	Abnormality of connective tissue	10518	CIB2
HP:0003549	Abnormality of connective tissue	80208	SPG11
HP:0003549	Abnormality of connective tissue	57697	FANCM
HP:0003549	Abnormality of connective tissue	10682	EBP
HP:0003549	Abnormality of connective tissue	4607	MYBPC3
HP:0003549	Abnormality of connective tissue	613	BCR
HP:0003549	Abnormality of connective tissue	2778	GNAS
HP:0003549	Abnormality of connective tissue	64218	SEMA4A
HP:0003549	Abnormality of connective tissue	2799	GNS
HP:0003549	Abnormality of connective tissue	6899	TBX1
HP:0003549	Abnormality of connective tissue	9150	CTDP1
HP:0003549	Abnormality of connective tissue	56262	LRRC8A
HP:0003549	Abnormality of connective tissue	23522	KAT6B
HP:0003549	Abnormality of connective tissue	5119	CHMP1A
HP:0003549	Abnormality of connective tissue	5148	PDE6G
HP:0003549	Abnormality of connective tissue	1123	CHN1
HP:0003549	Abnormality of connective tissue	9321	TRIP11
HP:0003549	Abnormality of connective tissue	9361	LONP1
HP:0003549	Abnormality of connective tissue	7443	VRK1
HP:0003549	Abnormality of connective tissue	9526	MPDU1
HP:0003549	Abnormality of connective tissue	7486	WRN
HP:0003549	Abnormality of connective tissue	25939	SAMHD1
HP:0003549	Abnormality of connective tissue	100128927	ZBTB42
HP:0003549	Abnormality of connective tissue	5506	PPP1R3A
HP:0003549	Abnormality of connective tissue	1536	CYBB
HP:0003549	Abnormality of connective tissue	54820	NDE1
HP:0003549	Abnormality of connective tissue	1605	DAG1
HP:0003549	Abnormality of connective tissue	118429	ANTXR2
HP:0003549	Abnormality of connective tissue	124590	USH1G
HP:0003549	Abnormality of connective tissue	83737	ITCH
HP:0003549	Abnormality of connective tissue	5932	RBBP8
HP:0003549	Abnormality of connective tissue	3908	LAMA2
HP:0003549	Abnormality of connective tissue	126792	B3GALT6
HP:0003549	Abnormality of connective tissue	10084	PQBP1
HP:0003549	Abnormality of connective tissue	346007	EYS
HP:0003549	Abnormality of connective tissue	1954	MEGF8
HP:0003549	Abnormality of connective tissue	79813	EHMT1
HP:0003549	Abnormality of connective tissue	2006	ELN
HP:0011443	Abnormality of coordination	1130	LYST
HP:0011443	Abnormality of coordination	5230	PGK1
HP:0011443	Abnormality of coordination	1181	CLCN2
HP:0011443	Abnormality of coordination	55532	SLC30A10
HP:0011443	Abnormality of coordination	4361	MRE11
HP:0011443	Abnormality of coordination	7443	VRK1
HP:0011443	Abnormality of coordination	10518	CIB2
HP:0011443	Abnormality of coordination	9526	MPDU1
HP:0011443	Abnormality of coordination	80208	SPG11
HP:0011443	Abnormality of coordination	410	ARSA
HP:0011443	Abnormality of coordination	6575	SLC20A2
HP:0011443	Abnormality of coordination	445	ASS1
HP:0011443	Abnormality of coordination	7681	MKRN3
HP:0011443	Abnormality of coordination	2566	GABRG2
HP:0011443	Abnormality of coordination	6687	SPG7
HP:0011443	Abnormality of coordination	4729	NDUFV2
HP:0011443	Abnormality of coordination	124590	USH1G
HP:0011443	Abnormality of coordination	8913	CACNA1G
HP:0011443	Abnormality of coordination	3798	KIF5A
HP:0011443	Abnormality of coordination	79600	TCTN1
HP:0011443	Abnormality of coordination	283489	CHAMP1
HP:0011443	Abnormality of coordination	255928	SYT14
HP:0011443	Abnormality of coordination	9150	CTDP1
HP:0011443	Abnormality of coordination	2006	ELN
HP:0001120	Abnormality of corneal size	1605	DAG1
HP:0001120	Abnormality of corneal size	57167	SALL4
HP:0001120	Abnormality of corneal size	1123	CHN1
HP:0001120	Abnormality of corneal size	1414	CRYBB1
HP:0001120	Abnormality of corneal size	1421	CRYGD
HP:0001120	Abnormality of corneal size	10682	EBP
HP:0001120	Abnormality of corneal size	9150	CTDP1
HP:0001120	Abnormality of corneal size	2006	ELN
HP:0011492	Abnormality of corneal stroma	2778	GNAS
HP:0011492	Abnormality of corneal stroma	3949	LDLR
HP:0011486	Abnormality of corneal thickness	5130	PCYT1A
HP:0011486	Abnormality of corneal thickness	5148	PDE6G
HP:0011486	Abnormality of corneal thickness	346007	EYS
HP:0011486	Abnormality of corneal thickness	6295	SAG
HP:0011486	Abnormality of corneal thickness	64218	SEMA4A
HP:0011329	Abnormality of cranial sutures	112752	IFT43
HP:0011329	Abnormality of cranial sutures	8318	CDC45
HP:0011329	Abnormality of cranial sutures	6899	TBX1
HP:0011329	Abnormality of cranial sutures	10516	FBLN5
HP:0011329	Abnormality of cranial sutures	5932	RBBP8
HP:0011329	Abnormality of cranial sutures	4488	MSX2
HP:0011329	Abnormality of cranial sutures	1954	MEGF8
HP:0000682	Abnormality of dental enamel	10518	CIB2
HP:0000682	Abnormality of dental enamel	5932	RBBP8
HP:0000682	Abnormality of dental enamel	112752	IFT43
HP:0000682	Abnormality of dental enamel	9361	LONP1
HP:0000682	Abnormality of dental enamel	124590	USH1G
HP:0000682	Abnormality of dental enamel	2006	ELN
HP:0000682	Abnormality of dental enamel	2778	GNAS
HP:0000682	Abnormality of dental enamel	6899	TBX1
HP:0006292	Abnormality of dental eruption	1909	EDNRA
HP:0006292	Abnormality of dental eruption	9361	LONP1
HP:0006292	Abnormality of dental eruption	57492	ARID1B
HP:0006292	Abnormality of dental eruption	79813	EHMT1
HP:0006292	Abnormality of dental eruption	2778	GNAS
HP:0006292	Abnormality of dental eruption	23522	KAT6B
HP:0006482	Abnormality of dental morphology	5932	RBBP8
HP:0006482	Abnormality of dental morphology	112752	IFT43
HP:0006482	Abnormality of dental morphology	9361	LONP1
HP:0006482	Abnormality of dental morphology	118429	ANTXR2
HP:0006482	Abnormality of dental morphology	7341	SUMO1
HP:0006482	Abnormality of dental morphology	2006	ELN
HP:0011061	Abnormality of dental structure	7681	MKRN3
HP:0011061	Abnormality of dental structure	112752	IFT43
HP:0011061	Abnormality of dental structure	9361	LONP1
HP:0011061	Abnormality of dental structure	124590	USH1G
HP:0011061	Abnormality of dental structure	2778	GNAS
HP:0011061	Abnormality of dental structure	6899	TBX1
HP:0011061	Abnormality of dental structure	10518	CIB2
HP:0011061	Abnormality of dental structure	5932	RBBP8
HP:0011061	Abnormality of dental structure	2006	ELN
HP:0011125	Abnormality of dermal melanosomes	1130	LYST
HP:0010995	Abnormality of dicarboxylic acid metabolism	4594	MUT
HP:0025033	Abnormality of digestive system morphology	5156	PDGFRA
HP:0025033	Abnormality of digestive system morphology	1123	CHN1
HP:0025033	Abnormality of digestive system morphology	8318	CDC45
HP:0025033	Abnormality of digestive system morphology	2189	FANCG
HP:0025033	Abnormality of digestive system morphology	9361	LONP1
HP:0025033	Abnormality of digestive system morphology	57492	ARID1B
HP:0025033	Abnormality of digestive system morphology	4261	CIITA
HP:0025033	Abnormality of digestive system morphology	3257	HPS1
HP:0025033	Abnormality of digestive system morphology	26873	OPLAH
HP:0025033	Abnormality of digestive system morphology	10516	FBLN5
HP:0025033	Abnormality of digestive system morphology	25913	POT1
HP:0025033	Abnormality of digestive system morphology	8516	ITGA8
HP:0025033	Abnormality of digestive system morphology	57697	FANCM
HP:0025033	Abnormality of digestive system morphology	10599	SLCO1B1
HP:0025033	Abnormality of digestive system morphology	6531	SLC6A3
HP:0025033	Abnormality of digestive system morphology	80270	HSD3B7
HP:0025033	Abnormality of digestive system morphology	9652	TTC37
HP:0025033	Abnormality of digestive system morphology	1536	CYBB
HP:0025033	Abnormality of digestive system morphology	6660	SOX5
HP:0025033	Abnormality of digestive system morphology	4645	MYO5B
HP:0025033	Abnormality of digestive system morphology	613	BCR
HP:0025033	Abnormality of digestive system morphology	118429	ANTXR2
HP:0025033	Abnormality of digestive system morphology	2778	GNAS
HP:0025033	Abnormality of digestive system morphology	79600	TCTN1
HP:0025033	Abnormality of digestive system morphology	6899	TBX1
HP:0025033	Abnormality of digestive system morphology	3908	LAMA2
HP:0025033	Abnormality of digestive system morphology	126792	B3GALT6
HP:0025033	Abnormality of digestive system morphology	57167	SALL4
HP:0025033	Abnormality of digestive system morphology	10084	PQBP1
HP:0025033	Abnormality of digestive system morphology	283489	CHAMP1
HP:0025033	Abnormality of digestive system morphology	79719	AAGAB
HP:0025033	Abnormality of digestive system morphology	1908	EDN3
HP:0025033	Abnormality of digestive system morphology	6049	RNF6
HP:0025033	Abnormality of digestive system morphology	51128	SAR1B
HP:0025033	Abnormality of digestive system morphology	79813	EHMT1
HP:0025033	Abnormality of digestive system morphology	56262	LRRC8A
HP:0025033	Abnormality of digestive system morphology	2006	ELN
HP:0025033	Abnormality of digestive system morphology	7128	TNFAIP3
HP:0025033	Abnormality of digestive system morphology	9184	BUB3
HP:0025033	Abnormality of digestive system morphology	23522	KAT6B
HP:0025033	Abnormality of digestive system morphology	23534	TNPO3
HP:0025033	Abnormality of digestive system morphology	5119	CHMP1A
HP:0025032	Abnormality of digestive system physiology	8318	CDC45
HP:0025032	Abnormality of digestive system physiology	57492	ARID1B
HP:0025032	Abnormality of digestive system physiology	4261	CIITA
HP:0025032	Abnormality of digestive system physiology	55532	SLC30A10
HP:0025032	Abnormality of digestive system physiology	26873	OPLAH
HP:0025032	Abnormality of digestive system physiology	10516	FBLN5
HP:0025032	Abnormality of digestive system physiology	80208	SPG11
HP:0025032	Abnormality of digestive system physiology	6496	SIX3
HP:0025032	Abnormality of digestive system physiology	10599	SLCO1B1
HP:0025032	Abnormality of digestive system physiology	6531	SLC6A3
HP:0025032	Abnormality of digestive system physiology	80270	HSD3B7
HP:0025032	Abnormality of digestive system physiology	445	ASS1
HP:0025032	Abnormality of digestive system physiology	4594	MUT
HP:0025032	Abnormality of digestive system physiology	6660	SOX5
HP:0025032	Abnormality of digestive system physiology	6687	SPG7
HP:0025032	Abnormality of digestive system physiology	4645	MYO5B
HP:0025032	Abnormality of digestive system physiology	613	BCR
HP:0025032	Abnormality of digestive system physiology	4729	NDUFV2
HP:0025032	Abnormality of digestive system physiology	10892	MALT1
HP:0025032	Abnormality of digestive system physiology	8913	CACNA1G
HP:0025032	Abnormality of digestive system physiology	2778	GNAS
HP:0025032	Abnormality of digestive system physiology	4842	NOS1
HP:0025032	Abnormality of digestive system physiology	2799	GNS
HP:0025032	Abnormality of digestive system physiology	6899	TBX1
HP:0025032	Abnormality of digestive system physiology	23394	ADNP
HP:0025032	Abnormality of digestive system physiology	283489	CHAMP1
HP:0025032	Abnormality of digestive system physiology	23417	MLYCD
HP:0025032	Abnormality of digestive system physiology	56262	LRRC8A
HP:0025032	Abnormality of digestive system physiology	7128	TNFAIP3
HP:0025032	Abnormality of digestive system physiology	23522	KAT6B
HP:0025032	Abnormality of digestive system physiology	23534	TNPO3
HP:0025032	Abnormality of digestive system physiology	5119	CHMP1A
HP:0025032	Abnormality of digestive system physiology	5156	PDGFRA
HP:0025032	Abnormality of digestive system physiology	9321	TRIP11
HP:0025032	Abnormality of digestive system physiology	1130	LYST
HP:0025032	Abnormality of digestive system physiology	3257	HPS1
HP:0025032	Abnormality of digestive system physiology	7443	VRK1
HP:0025032	Abnormality of digestive system physiology	9526	MPDU1
HP:0025032	Abnormality of digestive system physiology	25939	SAMHD1
HP:0025032	Abnormality of digestive system physiology	9652	TTC37
HP:0025032	Abnormality of digestive system physiology	3561	IL2RG
HP:0025032	Abnormality of digestive system physiology	7681	MKRN3
HP:0025032	Abnormality of digestive system physiology	9775	EIF4A3
HP:0025032	Abnormality of digestive system physiology	56922	MCCC1
HP:0025032	Abnormality of digestive system physiology	118429	ANTXR2
HP:0025032	Abnormality of digestive system physiology	3798	KIF5A
HP:0025032	Abnormality of digestive system physiology	79600	TCTN1
HP:0025032	Abnormality of digestive system physiology	9997	SCO2
HP:0025032	Abnormality of digestive system physiology	7957	EPM2A
HP:0025032	Abnormality of digestive system physiology	83737	ITCH
HP:0025032	Abnormality of digestive system physiology	3908	LAMA2
HP:0025032	Abnormality of digestive system physiology	10084	PQBP1
HP:0025032	Abnormality of digestive system physiology	1908	EDN3
HP:0025032	Abnormality of digestive system physiology	6049	RNF6
HP:0025032	Abnormality of digestive system physiology	4023	LPL
HP:0025032	Abnormality of digestive system physiology	51128	SAR1B
HP:0025032	Abnormality of digestive system physiology	255928	SYT14
HP:0025032	Abnormality of digestive system physiology	79813	EHMT1
HP:0025032	Abnormality of digestive system physiology	2006	ELN
HP:0011297	Abnormality of digit	112752	IFT43
HP:0011297	Abnormality of digit	8318	CDC45
HP:0011297	Abnormality of digit	10370	CITED2
HP:0011297	Abnormality of digit	2189	FANCG
HP:0011297	Abnormality of digit	57492	ARID1B
HP:0011297	Abnormality of digit	6305	SBF1
HP:0011297	Abnormality of digit	2254	FGF9
HP:0011297	Abnormality of digit	10516	FBLN5
HP:0011297	Abnormality of digit	57697	FANCM
HP:0011297	Abnormality of digit	10617	STAMBP
HP:0011297	Abnormality of digit	4488	MSX2
HP:0011297	Abnormality of digit	10682	EBP
HP:0011297	Abnormality of digit	6660	SOX5
HP:0011297	Abnormality of digit	6736	SRY
HP:0011297	Abnormality of digit	613	BCR
HP:0011297	Abnormality of digit	2778	GNAS
HP:0011297	Abnormality of digit	6899	TBX1
HP:0011297	Abnormality of digit	9150	CTDP1
HP:0011297	Abnormality of digit	9184	BUB3
HP:0011297	Abnormality of digit	23522	KAT6B
HP:0011297	Abnormality of digit	5130	PCYT1A
HP:0011297	Abnormality of digit	1123	CHN1
HP:0011297	Abnormality of digit	9361	LONP1
HP:0011297	Abnormality of digit	25939	SAMHD1
HP:0011297	Abnormality of digit	3561	IL2RG
HP:0011297	Abnormality of digit	7681	MKRN3
HP:0011297	Abnormality of digit	9775	EIF4A3
HP:0011297	Abnormality of digit	118429	ANTXR2
HP:0011297	Abnormality of digit	83696	TRAPPC9
HP:0011297	Abnormality of digit	79600	TCTN1
HP:0011297	Abnormality of digit	83737	ITCH
HP:0011297	Abnormality of digit	5932	RBBP8
HP:0011297	Abnormality of digit	126792	B3GALT6
HP:0011297	Abnormality of digit	57167	SALL4
HP:0011297	Abnormality of digit	10084	PQBP1
HP:0011297	Abnormality of digit	1908	EDN3
HP:0011297	Abnormality of digit	6049	RNF6
HP:0011297	Abnormality of digit	1954	MEGF8
HP:0011297	Abnormality of digit	81846	SBF2
HP:0011297	Abnormality of digit	79813	EHMT1
HP:0011297	Abnormality of digit	2006	ELN
HP:0010927	Abnormality of divalent inorganic cation homeostasis	2006	ELN
HP:0010927	Abnormality of divalent inorganic cation homeostasis	2778	GNAS
HP:0010927	Abnormality of divalent inorganic cation homeostasis	6899	TBX1
HP:0000363	Abnormality of earlobe	5932	RBBP8
HP:0000363	Abnormality of earlobe	2006	ELN
HP:0000363	Abnormality of earlobe	613	BCR
HP:0000363	Abnormality of earlobe	6899	TBX1
HP:0004362	Abnormality of enteric ganglion morphology	126792	B3GALT6
HP:0004362	Abnormality of enteric ganglion morphology	57167	SALL4
HP:0004362	Abnormality of enteric ganglion morphology	57697	FANCM
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3
HP:0004362	Abnormality of enteric ganglion morphology	2189	FANCG
HP:0004362	Abnormality of enteric ganglion morphology	79600	TCTN1
HP:0004362	Abnormality of enteric ganglion morphology	6899	TBX1
HP:0025028	Abnormality of enteric nervous system morphology	126792	B3GALT6
HP:0025028	Abnormality of enteric nervous system morphology	57167	SALL4
HP:0025028	Abnormality of enteric nervous system morphology	57697	FANCM
HP:0025028	Abnormality of enteric nervous system morphology	1908	EDN3
HP:0025028	Abnormality of enteric nervous system morphology	2189	FANCG
HP:0025028	Abnormality of enteric nervous system morphology	79600	TCTN1
HP:0025028	Abnormality of enteric nervous system morphology	6899	TBX1
HP:0001879	Abnormality of eosinophils	5156	PDGFRA
HP:0001879	Abnormality of eosinophils	3561	IL2RG
HP:0011124	Abnormality of epidermal morphology	9526	MPDU1
HP:0011124	Abnormality of epidermal morphology	25939	SAMHD1
HP:0005930	Abnormality of epiphysis morphology	8318	CDC45
HP:0005930	Abnormality of epiphysis morphology	9361	LONP1
HP:0005930	Abnormality of epiphysis morphology	57492	ARID1B
HP:0005930	Abnormality of epiphysis morphology	2254	FGF9
HP:0005930	Abnormality of epiphysis morphology	5932	RBBP8
HP:0005930	Abnormality of epiphysis morphology	126792	B3GALT6
HP:0005930	Abnormality of epiphysis morphology	10682	EBP
HP:0002031	Abnormality of esophagus morphology	1536	CYBB
HP:0002031	Abnormality of esophagus morphology	5156	PDGFRA
HP:0002031	Abnormality of esophagus morphology	8516	ITGA8
HP:0002031	Abnormality of esophagus morphology	57697	FANCM
HP:0002031	Abnormality of esophagus morphology	2189	FANCG
HP:0002031	Abnormality of esophagus morphology	6049	RNF6
HP:0002031	Abnormality of esophagus morphology	2006	ELN
HP:0025270	Abnormality of esophagus physiology	6660	SOX5
HP:0025270	Abnormality of esophagus physiology	6687	SPG7
HP:0025270	Abnormality of esophagus physiology	5156	PDGFRA
HP:0025270	Abnormality of esophagus physiology	8913	CACNA1G
HP:0025270	Abnormality of esophagus physiology	3798	KIF5A
HP:0025270	Abnormality of esophagus physiology	4842	NOS1
HP:0025270	Abnormality of esophagus physiology	2799	GNS
HP:0025270	Abnormality of esophagus physiology	6899	TBX1
HP:0025270	Abnormality of esophagus physiology	3908	LAMA2
HP:0025270	Abnormality of esophagus physiology	80208	SPG11
HP:0025270	Abnormality of esophagus physiology	283489	CHAMP1
HP:0025270	Abnormality of esophagus physiology	6531	SLC6A3
HP:0025270	Abnormality of esophagus physiology	255928	SYT14
HP:0025270	Abnormality of esophagus physiology	79813	EHMT1
HP:0025270	Abnormality of esophagus physiology	2006	ELN
HP:0025270	Abnormality of esophagus physiology	23522	KAT6B
HP:0025270	Abnormality of esophagus physiology	5119	CHMP1A
HP:0002071	Abnormality of extrapyramidal motor function	25913	POT1
HP:0002071	Abnormality of extrapyramidal motor function	1130	LYST
HP:0002071	Abnormality of extrapyramidal motor function	6531	SLC6A3
HP:0002071	Abnormality of extrapyramidal motor function	6575	SLC20A2
HP:0002071	Abnormality of extrapyramidal motor function	2006	ELN
HP:0002071	Abnormality of extrapyramidal motor function	3798	KIF5A
HP:0002071	Abnormality of extrapyramidal motor function	55532	SLC30A10
HP:0000496	Abnormality of eye movement	112752	IFT43
HP:0000496	Abnormality of eye movement	8318	CDC45
HP:0000496	Abnormality of eye movement	2189	FANCG
HP:0000496	Abnormality of eye movement	57492	ARID1B
HP:0000496	Abnormality of eye movement	6295	SAG
HP:0000496	Abnormality of eye movement	6305	SBF1
HP:0000496	Abnormality of eye movement	4361	MRE11
HP:0000496	Abnormality of eye movement	80208	SPG11
HP:0000496	Abnormality of eye movement	57697	FANCM
HP:0000496	Abnormality of eye movement	10682	EBP
HP:0000496	Abnormality of eye movement	51660	MPC1
HP:0000496	Abnormality of eye movement	6660	SOX5
HP:0000496	Abnormality of eye movement	113179	ADAT3
HP:0000496	Abnormality of eye movement	6687	SPG7
HP:0000496	Abnormality of eye movement	6736	SRY
HP:0000496	Abnormality of eye movement	613	BCR
HP:0000496	Abnormality of eye movement	4729	NDUFV2
HP:0000496	Abnormality of eye movement	8913	CACNA1G
HP:0000496	Abnormality of eye movement	2778	GNAS
HP:0000496	Abnormality of eye movement	64218	SEMA4A
HP:0000496	Abnormality of eye movement	6899	TBX1
HP:0000496	Abnormality of eye movement	23394	ADNP
HP:0000496	Abnormality of eye movement	283489	CHAMP1
HP:0000496	Abnormality of eye movement	9150	CTDP1
HP:0000496	Abnormality of eye movement	23522	KAT6B
HP:0000496	Abnormality of eye movement	5119	CHMP1A
HP:0000496	Abnormality of eye movement	5130	PCYT1A
HP:0000496	Abnormality of eye movement	5148	PDE6G
HP:0000496	Abnormality of eye movement	1123	CHN1
HP:0000496	Abnormality of eye movement	1130	LYST
HP:0000496	Abnormality of eye movement	9361	LONP1
HP:0000496	Abnormality of eye movement	3257	HPS1
HP:0000496	Abnormality of eye movement	9526	MPDU1
HP:0000496	Abnormality of eye movement	1414	CRYBB1
HP:0000496	Abnormality of eye movement	1421	CRYGD
HP:0000496	Abnormality of eye movement	7681	MKRN3
HP:0000496	Abnormality of eye movement	3798	KIF5A
HP:0000496	Abnormality of eye movement	79600	TCTN1
HP:0000496	Abnormality of eye movement	9997	SCO2
HP:0000496	Abnormality of eye movement	3908	LAMA2
HP:0000496	Abnormality of eye movement	57167	SALL4
HP:0000496	Abnormality of eye movement	10084	PQBP1
HP:0000496	Abnormality of eye movement	346007	EYS
HP:0000496	Abnormality of eye movement	255928	SYT14
HP:0000496	Abnormality of eye movement	2006	ELN
HP:0000301	Abnormality of facial musculature	3908	LAMA2
HP:0000301	Abnormality of facial musculature	57167	SALL4
HP:0000301	Abnormality of facial musculature	283489	CHAMP1
HP:0011821	Abnormality of facial skeleton	112752	IFT43
HP:0011821	Abnormality of facial skeleton	8318	CDC45
HP:0011821	Abnormality of facial skeleton	2189	FANCG
HP:0011821	Abnormality of facial skeleton	57492	ARID1B
HP:0011821	Abnormality of facial skeleton	8516	ITGA8
HP:0011821	Abnormality of facial skeleton	6496	SIX3
HP:0011821	Abnormality of facial skeleton	57697	FANCM
HP:0011821	Abnormality of facial skeleton	10617	STAMBP
HP:0011821	Abnormality of facial skeleton	10682	EBP
HP:0011821	Abnormality of facial skeleton	6660	SOX5
HP:0011821	Abnormality of facial skeleton	6736	SRY
HP:0011821	Abnormality of facial skeleton	613	BCR
HP:0011821	Abnormality of facial skeleton	2778	GNAS
HP:0011821	Abnormality of facial skeleton	6899	TBX1
HP:0011821	Abnormality of facial skeleton	9150	CTDP1
HP:0011821	Abnormality of facial skeleton	56262	LRRC8A
HP:0011821	Abnormality of facial skeleton	9184	BUB3
HP:0011821	Abnormality of facial skeleton	23522	KAT6B
HP:0011821	Abnormality of facial skeleton	1123	CHN1
HP:0011821	Abnormality of facial skeleton	9321	TRIP11
HP:0011821	Abnormality of facial skeleton	7341	SUMO1
HP:0011821	Abnormality of facial skeleton	3426	CFI
HP:0011821	Abnormality of facial skeleton	3561	IL2RG
HP:0011821	Abnormality of facial skeleton	1536	CYBB
HP:0011821	Abnormality of facial skeleton	9775	EIF4A3
HP:0011821	Abnormality of facial skeleton	5932	RBBP8
HP:0011821	Abnormality of facial skeleton	3908	LAMA2
HP:0011821	Abnormality of facial skeleton	126792	B3GALT6
HP:0011821	Abnormality of facial skeleton	10084	PQBP1
HP:0011821	Abnormality of facial skeleton	1909	EDNRA
HP:0011821	Abnormality of facial skeleton	1954	MEGF8
HP:0011821	Abnormality of facial skeleton	79813	EHMT1
HP:0011821	Abnormality of facial skeleton	2006	ELN
HP:0011799	Abnormality of facial soft tissue	3908	LAMA2
HP:0011799	Abnormality of facial soft tissue	57167	SALL4
HP:0011799	Abnormality of facial soft tissue	283489	CHAMP1
HP:0011799	Abnormality of facial soft tissue	2006	ELN
HP:0000055	Abnormality of female external genitalia	7681	MKRN3
HP:0000055	Abnormality of female external genitalia	6736	SRY
HP:0000055	Abnormality of female external genitalia	8318	CDC45
HP:0000055	Abnormality of female external genitalia	23522	KAT6B
HP:0000008	Abnormality of female internal genitalia	2189	FANCG
HP:0000008	Abnormality of female internal genitalia	9361	LONP1
HP:0000008	Abnormality of female internal genitalia	57492	ARID1B
HP:0000008	Abnormality of female internal genitalia	4361	MRE11
HP:0000008	Abnormality of female internal genitalia	7486	WRN
HP:0000008	Abnormality of female internal genitalia	8516	ITGA8
HP:0000008	Abnormality of female internal genitalia	57697	FANCM
HP:0000008	Abnormality of female internal genitalia	5506	PPP1R3A
HP:0000008	Abnormality of female internal genitalia	7681	MKRN3
HP:0000008	Abnormality of female internal genitalia	6736	SRY
HP:0000008	Abnormality of female internal genitalia	118429	ANTXR2
HP:0000008	Abnormality of female internal genitalia	2778	GNAS
HP:0000008	Abnormality of female internal genitalia	6899	TBX1
HP:0000008	Abnormality of female internal genitalia	57167	SALL4
HP:0000008	Abnormality of female internal genitalia	9150	CTDP1
HP:0000008	Abnormality of female internal genitalia	2006	ELN
HP:0000008	Abnormality of female internal genitalia	9184	BUB3
HP:0000008	Abnormality of female internal genitalia	51199	NIN
HP:0006499	Abnormality of femoral epiphysis	126792	B3GALT6
HP:0002823	Abnormality of femur morphology	5130	PCYT1A
HP:0002823	Abnormality of femur morphology	126792	B3GALT6
HP:0002823	Abnormality of femur morphology	57697	FANCM
HP:0002823	Abnormality of femur morphology	613	BCR
HP:0002823	Abnormality of femur morphology	9321	TRIP11
HP:0002823	Abnormality of femur morphology	2189	FANCG
HP:0002823	Abnormality of femur morphology	57492	ARID1B
HP:0002823	Abnormality of femur morphology	1954	MEGF8
HP:0002991	Abnormality of fibula morphology	9775	EIF4A3
HP:0001167	Abnormality of finger	5130	PCYT1A
HP:0001167	Abnormality of finger	1123	CHN1
HP:0001167	Abnormality of finger	112752	IFT43
HP:0001167	Abnormality of finger	8318	CDC45
HP:0001167	Abnormality of finger	10370	CITED2
HP:0001167	Abnormality of finger	2189	FANCG
HP:0001167	Abnormality of finger	9361	LONP1
HP:0001167	Abnormality of finger	57492	ARID1B
HP:0001167	Abnormality of finger	2254	FGF9
HP:0001167	Abnormality of finger	10516	FBLN5
HP:0001167	Abnormality of finger	25939	SAMHD1
HP:0001167	Abnormality of finger	57697	FANCM
HP:0001167	Abnormality of finger	10617	STAMBP
HP:0001167	Abnormality of finger	4488	MSX2
HP:0001167	Abnormality of finger	10682	EBP
HP:0001167	Abnormality of finger	7681	MKRN3
HP:0001167	Abnormality of finger	6660	SOX5
HP:0001167	Abnormality of finger	9775	EIF4A3
HP:0001167	Abnormality of finger	613	BCR
HP:0001167	Abnormality of finger	118429	ANTXR2
HP:0001167	Abnormality of finger	2778	GNAS
HP:0001167	Abnormality of finger	83696	TRAPPC9
HP:0001167	Abnormality of finger	79600	TCTN1
HP:0001167	Abnormality of finger	6899	TBX1
HP:0001167	Abnormality of finger	5932	RBBP8
HP:0001167	Abnormality of finger	126792	B3GALT6
HP:0001167	Abnormality of finger	57167	SALL4
HP:0001167	Abnormality of finger	10084	PQBP1
HP:0001167	Abnormality of finger	1908	EDN3
HP:0001167	Abnormality of finger	1954	MEGF8
HP:0001167	Abnormality of finger	9150	CTDP1
HP:0001167	Abnormality of finger	2006	ELN
HP:0001167	Abnormality of finger	9184	BUB3
HP:0001167	Abnormality of finger	23522	KAT6B
HP:0011032	Abnormality of fluid regulation	5148	PDE6G
HP:0011032	Abnormality of fluid regulation	4645	MYO5B
HP:0011032	Abnormality of fluid regulation	9321	TRIP11
HP:0011032	Abnormality of fluid regulation	1130	LYST
HP:0011032	Abnormality of fluid regulation	4729	NDUFV2
HP:0011032	Abnormality of fluid regulation	118429	ANTXR2
HP:0011032	Abnormality of fluid regulation	3908	LAMA2
HP:0011032	Abnormality of fluid regulation	10682	EBP
HP:0011032	Abnormality of fluid regulation	445	ASS1
HP:0011032	Abnormality of fluid regulation	56262	LRRC8A
HP:0011032	Abnormality of fluid regulation	2006	ELN
HP:0011032	Abnormality of fluid regulation	9184	BUB3
HP:0011032	Abnormality of fluid regulation	23522	KAT6B
HP:0011032	Abnormality of fluid regulation	3561	IL2RG
HP:0011032	Abnormality of fluid regulation	4594	MUT
HP:0011328	Abnormality of fontanelles	8318	CDC45
HP:0011328	Abnormality of fontanelles	4488	MSX2
HP:0040072	Abnormality of forearm bone	9775	EIF4A3
HP:0040072	Abnormality of forearm bone	126792	B3GALT6
HP:0040072	Abnormality of forearm bone	57167	SALL4
HP:0040072	Abnormality of forearm bone	57697	FANCM
HP:0040072	Abnormality of forearm bone	1123	CHN1
HP:0040072	Abnormality of forearm bone	9321	TRIP11
HP:0040072	Abnormality of forearm bone	2189	FANCG
HP:0040072	Abnormality of forearm bone	57492	ARID1B
HP:0040072	Abnormality of forearm bone	2254	FGF9
HP:0040072	Abnormality of forearm bone	2006	ELN
HP:0040072	Abnormality of forearm bone	23522	KAT6B
HP:0100547	Abnormality of forebrain morphology	10300	KATNB1
HP:0100547	Abnormality of forebrain morphology	8318	CDC45
HP:0100547	Abnormality of forebrain morphology	2189	FANCG
HP:0100547	Abnormality of forebrain morphology	57492	ARID1B
HP:0100547	Abnormality of forebrain morphology	6305	SBF1
HP:0100547	Abnormality of forebrain morphology	10516	FBLN5
HP:0100547	Abnormality of forebrain morphology	10518	CIB2
HP:0100547	Abnormality of forebrain morphology	80208	SPG11
HP:0100547	Abnormality of forebrain morphology	6496	SIX3
HP:0100547	Abnormality of forebrain morphology	57697	FANCM
HP:0100547	Abnormality of forebrain morphology	10617	STAMBP
HP:0100547	Abnormality of forebrain morphology	410	ARSA
HP:0100547	Abnormality of forebrain morphology	6575	SLC20A2
HP:0100547	Abnormality of forebrain morphology	445	ASS1
HP:0100547	Abnormality of forebrain morphology	51660	MPC1
HP:0100547	Abnormality of forebrain morphology	4594	MUT
HP:0100547	Abnormality of forebrain morphology	113179	ADAT3
HP:0100547	Abnormality of forebrain morphology	6687	SPG7
HP:0100547	Abnormality of forebrain morphology	613	BCR
HP:0100547	Abnormality of forebrain morphology	4729	NDUFV2
HP:0100547	Abnormality of forebrain morphology	27286	SRPX2
HP:0100547	Abnormality of forebrain morphology	2778	GNAS
HP:0100547	Abnormality of forebrain morphology	6899	TBX1
HP:0100547	Abnormality of forebrain morphology	283489	CHAMP1
HP:0100547	Abnormality of forebrain morphology	23417	MLYCD
HP:0100547	Abnormality of forebrain morphology	9150	CTDP1
HP:0100547	Abnormality of forebrain morphology	9184	BUB3
HP:0100547	Abnormality of forebrain morphology	23522	KAT6B
HP:0100547	Abnormality of forebrain morphology	5119	CHMP1A
HP:0100547	Abnormality of forebrain morphology	1123	CHN1
HP:0100547	Abnormality of forebrain morphology	60528	ELAC2
HP:0100547	Abnormality of forebrain morphology	9361	LONP1
HP:0100547	Abnormality of forebrain morphology	1181	CLCN2
HP:0100547	Abnormality of forebrain morphology	7443	VRK1
HP:0100547	Abnormality of forebrain morphology	9526	MPDU1
HP:0100547	Abnormality of forebrain morphology	25939	SAMHD1
HP:0100547	Abnormality of forebrain morphology	7546	ZIC2
HP:0100547	Abnormality of forebrain morphology	54820	NDE1
HP:0100547	Abnormality of forebrain morphology	1605	DAG1
HP:0100547	Abnormality of forebrain morphology	5723	PSPH
HP:0100547	Abnormality of forebrain morphology	124590	USH1G
HP:0100547	Abnormality of forebrain morphology	3798	KIF5A
HP:0100547	Abnormality of forebrain morphology	83696	TRAPPC9
HP:0100547	Abnormality of forebrain morphology	79600	TCTN1
HP:0100547	Abnormality of forebrain morphology	9997	SCO2
HP:0100547	Abnormality of forebrain morphology	5932	RBBP8
HP:0100547	Abnormality of forebrain morphology	3908	LAMA2
HP:0100547	Abnormality of forebrain morphology	10084	PQBP1
HP:0100547	Abnormality of forebrain morphology	1908	EDN3
HP:0100547	Abnormality of forebrain morphology	1917	EEF1A2
HP:0100547	Abnormality of forebrain morphology	55180	LINS1
HP:0100547	Abnormality of forebrain morphology	79813	EHMT1
HP:0100547	Abnormality of forebrain morphology	2006	ELN
HP:0100547	Abnormality of forebrain morphology	51199	NIN
HP:0100886	Abnormality of globe location	1123	CHN1
HP:0100886	Abnormality of globe location	112752	IFT43
HP:0100886	Abnormality of globe location	8318	CDC45
HP:0100886	Abnormality of globe location	10370	CITED2
HP:0100886	Abnormality of globe location	2189	FANCG
HP:0100886	Abnormality of globe location	57492	ARID1B
HP:0100886	Abnormality of globe location	10516	FBLN5
HP:0100886	Abnormality of globe location	8516	ITGA8
HP:0100886	Abnormality of globe location	6496	SIX3
HP:0100886	Abnormality of globe location	57697	FANCM
HP:0100886	Abnormality of globe location	10617	STAMBP
HP:0100886	Abnormality of globe location	7546	ZIC2
HP:0100886	Abnormality of globe location	4488	MSX2
HP:0100886	Abnormality of globe location	9652	TTC37
HP:0100886	Abnormality of globe location	54820	NDE1
HP:0100886	Abnormality of globe location	613	BCR
HP:0100886	Abnormality of globe location	83696	TRAPPC9
HP:0100886	Abnormality of globe location	6899	TBX1
HP:0100886	Abnormality of globe location	83737	ITCH
HP:0100886	Abnormality of globe location	126792	B3GALT6
HP:0100886	Abnormality of globe location	57167	SALL4
HP:0100886	Abnormality of globe location	1917	EEF1A2
HP:0100886	Abnormality of globe location	1954	MEGF8
HP:0100886	Abnormality of globe location	79813	EHMT1
HP:0100886	Abnormality of globe location	56262	LRRC8A
HP:0100886	Abnormality of globe location	2006	ELN
HP:0100886	Abnormality of globe location	23522	KAT6B
HP:0100886	Abnormality of globe location	51199	NIN
HP:0100887	Abnormality of globe size	1605	DAG1
HP:0100887	Abnormality of globe size	2189	FANCG
HP:0100887	Abnormality of globe size	6899	TBX1
HP:0100887	Abnormality of globe size	5932	RBBP8
HP:0100887	Abnormality of globe size	57167	SALL4
HP:0100887	Abnormality of globe size	6496	SIX3
HP:0100887	Abnormality of globe size	57697	FANCM
HP:0100887	Abnormality of globe size	10084	PQBP1
HP:0100887	Abnormality of globe size	30062	RAX
HP:0100887	Abnormality of globe size	10682	EBP
HP:0100887	Abnormality of globe size	9150	CTDP1
HP:0100887	Abnormality of globe size	9184	BUB3
HP:0010902	Abnormality of glutamine family amino acid metabolism	26873	OPLAH
HP:0010902	Abnormality of glutamine family amino acid metabolism	445	ASS1
HP:0010903	Abnormality of glutamine metabolism	445	ASS1
HP:0010895	Abnormality of glycine metabolism	4594	MUT
HP:0004366	Abnormality of glycolysis	51660	MPC1
HP:0004371	Abnormality of glycosaminoglycan metabolism	2799	GNS
HP:0001911	Abnormality of granulocytes	1536	CYBB
HP:0001911	Abnormality of granulocytes	5156	PDGFRA
HP:0001911	Abnormality of granulocytes	10841	FTCD
HP:0001911	Abnormality of granulocytes	613	BCR
HP:0001911	Abnormality of granulocytes	1130	LYST
HP:0001911	Abnormality of granulocytes	2189	FANCG
HP:0001911	Abnormality of granulocytes	4261	CIITA
HP:0001911	Abnormality of granulocytes	56262	LRRC8A
HP:0001911	Abnormality of granulocytes	3561	IL2RG
HP:0001911	Abnormality of granulocytes	4594	MUT
HP:0001911	Abnormality of granulocytes	4607	MYBPC3
HP:0011357	Abnormality of hair density	6736	SRY
HP:0011357	Abnormality of hair density	112752	IFT43
HP:0011357	Abnormality of hair density	57492	ARID1B
HP:0011357	Abnormality of hair density	3242	HPD
HP:0011357	Abnormality of hair density	5932	RBBP8
HP:0011357	Abnormality of hair density	7486	WRN
HP:0011357	Abnormality of hair density	126792	B3GALT6
HP:0011357	Abnormality of hair density	10084	PQBP1
HP:0011357	Abnormality of hair density	1909	EDNRA
HP:0011357	Abnormality of hair density	9652	TTC37
HP:0011357	Abnormality of hair density	10682	EBP
HP:0011357	Abnormality of hair density	23522	KAT6B
HP:0040170	Abnormality of hair growth	57492	ARID1B
HP:0011363	Abnormality of hair growth rate	57492	ARID1B
HP:0009887	Abnormality of hair pigmentation	7681	MKRN3
HP:0009887	Abnormality of hair pigmentation	3257	HPS1
HP:0009887	Abnormality of hair pigmentation	7486	WRN
HP:0009887	Abnormality of hair pigmentation	2006	ELN
HP:0009887	Abnormality of hair pigmentation	1123	CHN1
HP:0009887	Abnormality of hair pigmentation	1130	LYST
HP:0009887	Abnormality of hair pigmentation	1908	EDN3
HP:0010719	Abnormality of hair texture	10084	PQBP1
HP:0010719	Abnormality of hair texture	112752	IFT43
HP:0010719	Abnormality of hair texture	3242	HPD
HP:0010719	Abnormality of hair texture	9652	TTC37
HP:0010719	Abnormality of hair texture	10682	EBP
HP:0010719	Abnormality of hair texture	23522	KAT6B
HP:0010719	Abnormality of hair texture	2799	GNS
HP:3000036	Abnormality of head blood vessel	2006	ELN
HP:3000036	Abnormality of head blood vessel	3949	LDLR
HP:3000036	Abnormality of head blood vessel	6899	TBX1
HP:0000152	Abnormality of head or neck	8318	CDC45
HP:0000152	Abnormality of head or neck	57492	ARID1B
HP:0000152	Abnormality of head or neck	4261	CIITA
HP:0000152	Abnormality of head or neck	8516	ITGA8
HP:0000152	Abnormality of head or neck	57697	FANCM
HP:0000152	Abnormality of head or neck	4488	MSX2
HP:0000152	Abnormality of head or neck	613	BCR
HP:0000152	Abnormality of head or neck	4729	NDUFV2
HP:0000152	Abnormality of head or neck	283489	CHAMP1
HP:0000152	Abnormality of head or neck	9150	CTDP1
HP:0000152	Abnormality of head or neck	9184	BUB3
HP:0000152	Abnormality of head or neck	5119	CHMP1A
HP:0000152	Abnormality of head or neck	5130	PCYT1A
HP:0000152	Abnormality of head or neck	5148	PDE6G
HP:0000152	Abnormality of head or neck	1123	CHN1
HP:0000152	Abnormality of head or neck	9321	TRIP11
HP:0000152	Abnormality of head or neck	1130	LYST
HP:0000152	Abnormality of head or neck	9361	LONP1
HP:0000152	Abnormality of head or neck	9526	MPDU1
HP:0000152	Abnormality of head or neck	25939	SAMHD1
HP:0000152	Abnormality of head or neck	79188	TMEM43
HP:0000152	Abnormality of head or neck	30062	RAX
HP:0000152	Abnormality of head or neck	5506	PPP1R3A
HP:0000152	Abnormality of head or neck	1414	CRYBB1
HP:0000152	Abnormality of head or neck	1421	CRYGD
HP:0000152	Abnormality of head or neck	9652	TTC37
HP:0000152	Abnormality of head or neck	1536	CYBB
HP:0000152	Abnormality of head or neck	54820	NDE1
HP:0000152	Abnormality of head or neck	9775	EIF4A3
HP:0000152	Abnormality of head or neck	1605	DAG1
HP:0000152	Abnormality of head or neck	5723	PSPH
HP:0000152	Abnormality of head or neck	124590	USH1G
HP:0000152	Abnormality of head or neck	83696	TRAPPC9
HP:0000152	Abnormality of head or neck	79600	TCTN1
HP:0000152	Abnormality of head or neck	83737	ITCH
HP:0000152	Abnormality of head or neck	5932	RBBP8
HP:0000152	Abnormality of head or neck	1861	TOR1A
HP:0000152	Abnormality of head or neck	10084	PQBP1
HP:0000152	Abnormality of head or neck	1908	EDN3
HP:0000152	Abnormality of head or neck	1909	EDNRA
HP:0000152	Abnormality of head or neck	1917	EEF1A2
HP:0000152	Abnormality of head or neck	55180	LINS1
HP:0000152	Abnormality of head or neck	346007	EYS
HP:0000152	Abnormality of head or neck	1954	MEGF8
HP:0000152	Abnormality of head or neck	79813	EHMT1
HP:0000152	Abnormality of head or neck	2006	ELN
HP:0000152	Abnormality of head or neck	51199	NIN
HP:0000152	Abnormality of head or neck	10300	KATNB1
HP:0000152	Abnormality of head or neck	112752	IFT43
HP:0000152	Abnormality of head or neck	10370	CITED2
HP:0000152	Abnormality of head or neck	2189	FANCG
HP:0000152	Abnormality of head or neck	6295	SAG
HP:0000152	Abnormality of head or neck	6305	SBF1
HP:0000152	Abnormality of head or neck	2254	FGF9
HP:0000152	Abnormality of head or neck	10516	FBLN5
HP:0000152	Abnormality of head or neck	10518	CIB2
HP:0000152	Abnormality of head or neck	6496	SIX3
HP:0000152	Abnormality of head or neck	10617	STAMBP
HP:0000152	Abnormality of head or neck	6575	SLC20A2
HP:0000152	Abnormality of head or neck	10682	EBP
HP:0000152	Abnormality of head or neck	51660	MPC1
HP:0000152	Abnormality of head or neck	6660	SOX5
HP:0000152	Abnormality of head or neck	113179	ADAT3
HP:0000152	Abnormality of head or neck	6736	SRY
HP:0000152	Abnormality of head or neck	2683	B4GALT1
HP:0000152	Abnormality of head or neck	10892	MALT1
HP:0000152	Abnormality of head or neck	2778	GNAS
HP:0000152	Abnormality of head or neck	64218	SEMA4A
HP:0000152	Abnormality of head or neck	2799	GNS
HP:0000152	Abnormality of head or neck	6899	TBX1
HP:0000152	Abnormality of head or neck	23394	ADNP
HP:0000152	Abnormality of head or neck	56262	LRRC8A
HP:0000152	Abnormality of head or neck	7128	TNFAIP3
HP:0000152	Abnormality of head or neck	23522	KAT6B
HP:0000152	Abnormality of head or neck	60528	ELAC2
HP:0000152	Abnormality of head or neck	7341	SUMO1
HP:0000152	Abnormality of head or neck	3257	HPS1
HP:0000152	Abnormality of head or neck	7486	WRN
HP:0000152	Abnormality of head or neck	3426	CFI
HP:0000152	Abnormality of head or neck	100128927	ZBTB42
HP:0000152	Abnormality of head or neck	7546	ZIC2
HP:0000152	Abnormality of head or neck	3561	IL2RG
HP:0000152	Abnormality of head or neck	7681	MKRN3
HP:0000152	Abnormality of head or neck	118429	ANTXR2
HP:0000152	Abnormality of head or neck	3798	KIF5A
HP:0000152	Abnormality of head or neck	3908	LAMA2
HP:0000152	Abnormality of head or neck	126792	B3GALT6
HP:0000152	Abnormality of head or neck	57167	SALL4
HP:0000152	Abnormality of head or neck	3949	LDLR
HP:0000152	Abnormality of head or neck	4023	LPL
HP:0025155	Abnormality of hepatobiliary system physiology	7957	EPM2A
HP:0025155	Abnormality of hepatobiliary system physiology	4729	NDUFV2
HP:0025155	Abnormality of hepatobiliary system physiology	80270	HSD3B7
HP:0025155	Abnormality of hepatobiliary system physiology	9652	TTC37
HP:0025155	Abnormality of hepatobiliary system physiology	55532	SLC30A10
HP:0025155	Abnormality of hepatobiliary system physiology	23534	TNPO3
HP:0011446	Abnormality of higher mental function	10300	KATNB1
HP:0011446	Abnormality of higher mental function	57492	ARID1B
HP:0011446	Abnormality of higher mental function	55532	SLC30A10
HP:0011446	Abnormality of higher mental function	4361	MRE11
HP:0011446	Abnormality of higher mental function	80208	SPG11
HP:0011446	Abnormality of higher mental function	410	ARSA
HP:0011446	Abnormality of higher mental function	6575	SLC20A2
HP:0011446	Abnormality of higher mental function	445	ASS1
HP:0011446	Abnormality of higher mental function	4594	MUT
HP:0011446	Abnormality of higher mental function	6687	SPG7
HP:0011446	Abnormality of higher mental function	613	BCR
HP:0011446	Abnormality of higher mental function	4729	NDUFV2
HP:0011446	Abnormality of higher mental function	27286	SRPX2
HP:0011446	Abnormality of higher mental function	8913	CACNA1G
HP:0011446	Abnormality of higher mental function	2778	GNAS
HP:0011446	Abnormality of higher mental function	2799	GNS
HP:0011446	Abnormality of higher mental function	6899	TBX1
HP:0011446	Abnormality of higher mental function	23394	ADNP
HP:0011446	Abnormality of higher mental function	9150	CTDP1
HP:0011446	Abnormality of higher mental function	23522	KAT6B
HP:0011446	Abnormality of higher mental function	23534	TNPO3
HP:0011446	Abnormality of higher mental function	5119	CHMP1A
HP:0011446	Abnormality of higher mental function	9526	MPDU1
HP:0011446	Abnormality of higher mental function	9652	TTC37
HP:0011446	Abnormality of higher mental function	1605	DAG1
HP:0011446	Abnormality of higher mental function	56922	MCCC1
HP:0011446	Abnormality of higher mental function	79600	TCTN1
HP:0011446	Abnormality of higher mental function	7957	EPM2A
HP:0011446	Abnormality of higher mental function	5932	RBBP8
HP:0011446	Abnormality of higher mental function	3908	LAMA2
HP:0011446	Abnormality of higher mental function	1861	TOR1A
HP:0011446	Abnormality of higher mental function	1908	EDN3
HP:0011446	Abnormality of higher mental function	55180	LINS1
HP:0011446	Abnormality of higher mental function	255928	SYT14
HP:0011446	Abnormality of higher mental function	79813	EHMT1
HP:0011446	Abnormality of higher mental function	2006	ELN
HP:0011282	Abnormality of hindbrain morphology	8318	CDC45
HP:0011282	Abnormality of hindbrain morphology	57492	ARID1B
HP:0011282	Abnormality of hindbrain morphology	4361	MRE11
HP:0011282	Abnormality of hindbrain morphology	10518	CIB2
HP:0011282	Abnormality of hindbrain morphology	80208	SPG11
HP:0011282	Abnormality of hindbrain morphology	6496	SIX3
HP:0011282	Abnormality of hindbrain morphology	410	ARSA
HP:0011282	Abnormality of hindbrain morphology	6575	SLC20A2
HP:0011282	Abnormality of hindbrain morphology	10682	EBP
HP:0011282	Abnormality of hindbrain morphology	445	ASS1
HP:0011282	Abnormality of hindbrain morphology	2566	GABRG2
HP:0011282	Abnormality of hindbrain morphology	6687	SPG7
HP:0011282	Abnormality of hindbrain morphology	4729	NDUFV2
HP:0011282	Abnormality of hindbrain morphology	2683	B4GALT1
HP:0011282	Abnormality of hindbrain morphology	8913	CACNA1G
HP:0011282	Abnormality of hindbrain morphology	283489	CHAMP1
HP:0011282	Abnormality of hindbrain morphology	9150	CTDP1
HP:0011282	Abnormality of hindbrain morphology	9184	BUB3
HP:0011282	Abnormality of hindbrain morphology	5119	CHMP1A
HP:0011282	Abnormality of hindbrain morphology	5130	PCYT1A
HP:0011282	Abnormality of hindbrain morphology	1130	LYST
HP:0011282	Abnormality of hindbrain morphology	5230	PGK1
HP:0011282	Abnormality of hindbrain morphology	1181	CLCN2
HP:0011282	Abnormality of hindbrain morphology	7443	VRK1
HP:0011282	Abnormality of hindbrain morphology	9526	MPDU1
HP:0011282	Abnormality of hindbrain morphology	54820	NDE1
HP:0011282	Abnormality of hindbrain morphology	1605	DAG1
HP:0011282	Abnormality of hindbrain morphology	124590	USH1G
HP:0011282	Abnormality of hindbrain morphology	3798	KIF5A
HP:0011282	Abnormality of hindbrain morphology	83696	TRAPPC9
HP:0011282	Abnormality of hindbrain morphology	79600	TCTN1
HP:0011282	Abnormality of hindbrain morphology	5932	RBBP8
HP:0011282	Abnormality of hindbrain morphology	3908	LAMA2
HP:0011282	Abnormality of hindbrain morphology	255928	SYT14
HP:0011282	Abnormality of hindbrain morphology	2006	ELN
HP:0005368	Abnormality of humoral immunity	3426	CFI
HP:0005368	Abnormality of humoral immunity	4261	CIITA
HP:0005368	Abnormality of humoral immunity	56262	LRRC8A
HP:0005368	Abnormality of humoral immunity	730	C7
HP:0005368	Abnormality of humoral immunity	3561	IL2RG
HP:0005368	Abnormality of humoral immunity	23534	TNPO3
HP:0010978	Abnormality of immune system physiology	2189	FANCG
HP:0010978	Abnormality of immune system physiology	57492	ARID1B
HP:0010978	Abnormality of immune system physiology	4261	CIITA
HP:0010978	Abnormality of immune system physiology	26873	OPLAH
HP:0010978	Abnormality of immune system physiology	10516	FBLN5
HP:0010978	Abnormality of immune system physiology	57697	FANCM
HP:0010978	Abnormality of immune system physiology	29071	C1GALT1C1
HP:0010978	Abnormality of immune system physiology	80270	HSD3B7
HP:0010978	Abnormality of immune system physiology	10682	EBP
HP:0010978	Abnormality of immune system physiology	4594	MUT
HP:0010978	Abnormality of immune system physiology	6736	SRY
HP:0010978	Abnormality of immune system physiology	613	BCR
HP:0010978	Abnormality of immune system physiology	10892	MALT1
HP:0010978	Abnormality of immune system physiology	730	C7
HP:0010978	Abnormality of immune system physiology	2778	GNAS
HP:0010978	Abnormality of immune system physiology	2799	GNS
HP:0010978	Abnormality of immune system physiology	6899	TBX1
HP:0010978	Abnormality of immune system physiology	23394	ADNP
HP:0010978	Abnormality of immune system physiology	283489	CHAMP1
HP:0010978	Abnormality of immune system physiology	7018	TF
HP:0010978	Abnormality of immune system physiology	56262	LRRC8A
HP:0010978	Abnormality of immune system physiology	7128	TNFAIP3
HP:0010978	Abnormality of immune system physiology	9184	BUB3
HP:0010978	Abnormality of immune system physiology	23522	KAT6B
HP:0010978	Abnormality of immune system physiology	23534	TNPO3
HP:0010978	Abnormality of immune system physiology	5130	PCYT1A
HP:0010978	Abnormality of immune system physiology	5156	PDGFRA
HP:0010978	Abnormality of immune system physiology	1130	LYST
HP:0010978	Abnormality of immune system physiology	3257	HPS1
HP:0010978	Abnormality of immune system physiology	9526	MPDU1
HP:0010978	Abnormality of immune system physiology	3394	IRF8
HP:0010978	Abnormality of immune system physiology	3426	CFI
HP:0010978	Abnormality of immune system physiology	3460	IFNGR2
HP:0010978	Abnormality of immune system physiology	3561	IL2RG
HP:0010978	Abnormality of immune system physiology	1536	CYBB
HP:0010978	Abnormality of immune system physiology	7681	MKRN3
HP:0010978	Abnormality of immune system physiology	118429	ANTXR2
HP:0010978	Abnormality of immune system physiology	83737	ITCH
HP:0010978	Abnormality of immune system physiology	3908	LAMA2
HP:0010978	Abnormality of immune system physiology	1908	EDN3
HP:0010978	Abnormality of immune system physiology	4023	LPL
HP:0010978	Abnormality of immune system physiology	79813	EHMT1
HP:0010978	Abnormality of immune system physiology	2006	ELN
HP:0003111	Abnormality of ion homeostasis	2778	GNAS
HP:0003111	Abnormality of ion homeostasis	55532	SLC30A10
HP:0003111	Abnormality of ion homeostasis	6899	TBX1
HP:0003111	Abnormality of ion homeostasis	8452	CUL3
HP:0003111	Abnormality of ion homeostasis	9652	TTC37
HP:0003111	Abnormality of ion homeostasis	2006	ELN
HP:0011031	Abnormality of iron homeostasis	55532	SLC30A10
HP:0011031	Abnormality of iron homeostasis	9652	TTC37
HP:0011729	Abnormality of joint mobility	112752	IFT43
HP:0011729	Abnormality of joint mobility	8318	CDC45
HP:0011729	Abnormality of joint mobility	57492	ARID1B
HP:0011729	Abnormality of joint mobility	2254	FGF9
HP:0011729	Abnormality of joint mobility	10516	FBLN5
HP:0011729	Abnormality of joint mobility	80208	SPG11
HP:0011729	Abnormality of joint mobility	6660	SOX5
HP:0011729	Abnormality of joint mobility	613	BCR
HP:0011729	Abnormality of joint mobility	2778	GNAS
HP:0011729	Abnormality of joint mobility	2799	GNS
HP:0011729	Abnormality of joint mobility	6899	TBX1
HP:0011729	Abnormality of joint mobility	23394	ADNP
HP:0011729	Abnormality of joint mobility	283489	CHAMP1
HP:0011729	Abnormality of joint mobility	9150	CTDP1
HP:0011729	Abnormality of joint mobility	23522	KAT6B
HP:0011729	Abnormality of joint mobility	5119	CHMP1A
HP:0011729	Abnormality of joint mobility	5130	PCYT1A
HP:0011729	Abnormality of joint mobility	1123	CHN1
HP:0011729	Abnormality of joint mobility	9361	LONP1
HP:0011729	Abnormality of joint mobility	7443	VRK1
HP:0011729	Abnormality of joint mobility	9526	MPDU1
HP:0011729	Abnormality of joint mobility	7486	WRN
HP:0011729	Abnormality of joint mobility	25939	SAMHD1
HP:0011729	Abnormality of joint mobility	100128927	ZBTB42
HP:0011729	Abnormality of joint mobility	54820	NDE1
HP:0011729	Abnormality of joint mobility	1605	DAG1
HP:0011729	Abnormality of joint mobility	118429	ANTXR2
HP:0011729	Abnormality of joint mobility	83737	ITCH
HP:0011729	Abnormality of joint mobility	5932	RBBP8
HP:0011729	Abnormality of joint mobility	3908	LAMA2
HP:0011729	Abnormality of joint mobility	126792	B3GALT6
HP:0011729	Abnormality of joint mobility	57167	SALL4
HP:0011729	Abnormality of joint mobility	10084	PQBP1
HP:0011729	Abnormality of joint mobility	1954	MEGF8
HP:0011729	Abnormality of joint mobility	2006	ELN
HP:0030047	Abnormality of lateral ventricle	23522	KAT6B
HP:0004357	Abnormality of leucine metabolism	56922	MCCC1
HP:0040068	Abnormality of limb bone	112752	IFT43
HP:0040068	Abnormality of limb bone	8318	CDC45
HP:0040068	Abnormality of limb bone	10370	CITED2
HP:0040068	Abnormality of limb bone	2189	FANCG
HP:0040068	Abnormality of limb bone	57492	ARID1B
HP:0040068	Abnormality of limb bone	6305	SBF1
HP:0040068	Abnormality of limb bone	2254	FGF9
HP:0040068	Abnormality of limb bone	10516	FBLN5
HP:0040068	Abnormality of limb bone	57697	FANCM
HP:0040068	Abnormality of limb bone	10617	STAMBP
HP:0040068	Abnormality of limb bone	4488	MSX2
HP:0040068	Abnormality of limb bone	10682	EBP
HP:0040068	Abnormality of limb bone	6660	SOX5
HP:0040068	Abnormality of limb bone	6736	SRY
HP:0040068	Abnormality of limb bone	613	BCR
HP:0040068	Abnormality of limb bone	2778	GNAS
HP:0040068	Abnormality of limb bone	6899	TBX1
HP:0040068	Abnormality of limb bone	23394	ADNP
HP:0040068	Abnormality of limb bone	9150	CTDP1
HP:0040068	Abnormality of limb bone	9184	BUB3
HP:0040068	Abnormality of limb bone	23522	KAT6B
HP:0040068	Abnormality of limb bone	5130	PCYT1A
HP:0040068	Abnormality of limb bone	1123	CHN1
HP:0040068	Abnormality of limb bone	9321	TRIP11
HP:0040068	Abnormality of limb bone	9361	LONP1
HP:0040068	Abnormality of limb bone	7486	WRN
HP:0040068	Abnormality of limb bone	25939	SAMHD1
HP:0040068	Abnormality of limb bone	3561	IL2RG
HP:0040068	Abnormality of limb bone	7681	MKRN3
HP:0040068	Abnormality of limb bone	9775	EIF4A3
HP:0040068	Abnormality of limb bone	1605	DAG1
HP:0040068	Abnormality of limb bone	118429	ANTXR2
HP:0040068	Abnormality of limb bone	83696	TRAPPC9
HP:0040068	Abnormality of limb bone	79600	TCTN1
HP:0040068	Abnormality of limb bone	83737	ITCH
HP:0040068	Abnormality of limb bone	5932	RBBP8
HP:0040068	Abnormality of limb bone	126792	B3GALT6
HP:0040068	Abnormality of limb bone	57167	SALL4
HP:0040068	Abnormality of limb bone	10084	PQBP1
HP:0040068	Abnormality of limb bone	1908	EDN3
HP:0040068	Abnormality of limb bone	6049	RNF6
HP:0040068	Abnormality of limb bone	1954	MEGF8
HP:0040068	Abnormality of limb bone	81846	SBF2
HP:0040068	Abnormality of limb bone	79813	EHMT1
HP:0040068	Abnormality of limb bone	2006	ELN
HP:0002813	Abnormality of limb bone morphology	112752	IFT43
HP:0002813	Abnormality of limb bone morphology	8318	CDC45
HP:0002813	Abnormality of limb bone morphology	10370	CITED2
HP:0002813	Abnormality of limb bone morphology	2189	FANCG
HP:0002813	Abnormality of limb bone morphology	57492	ARID1B
HP:0002813	Abnormality of limb bone morphology	6305	SBF1
HP:0002813	Abnormality of limb bone morphology	2254	FGF9
HP:0002813	Abnormality of limb bone morphology	10516	FBLN5
HP:0002813	Abnormality of limb bone morphology	57697	FANCM
HP:0002813	Abnormality of limb bone morphology	10617	STAMBP
HP:0002813	Abnormality of limb bone morphology	4488	MSX2
HP:0002813	Abnormality of limb bone morphology	10682	EBP
HP:0002813	Abnormality of limb bone morphology	6660	SOX5
HP:0002813	Abnormality of limb bone morphology	6736	SRY
HP:0002813	Abnormality of limb bone morphology	613	BCR
HP:0002813	Abnormality of limb bone morphology	2778	GNAS
HP:0002813	Abnormality of limb bone morphology	6899	TBX1
HP:0002813	Abnormality of limb bone morphology	23394	ADNP
HP:0002813	Abnormality of limb bone morphology	9150	CTDP1
HP:0002813	Abnormality of limb bone morphology	9184	BUB3
HP:0002813	Abnormality of limb bone morphology	23522	KAT6B
HP:0002813	Abnormality of limb bone morphology	5130	PCYT1A
HP:0002813	Abnormality of limb bone morphology	1123	CHN1
HP:0002813	Abnormality of limb bone morphology	9321	TRIP11
HP:0002813	Abnormality of limb bone morphology	9361	LONP1
HP:0002813	Abnormality of limb bone morphology	7486	WRN
HP:0002813	Abnormality of limb bone morphology	25939	SAMHD1
HP:0002813	Abnormality of limb bone morphology	3561	IL2RG
HP:0002813	Abnormality of limb bone morphology	7681	MKRN3
HP:0002813	Abnormality of limb bone morphology	9775	EIF4A3
HP:0002813	Abnormality of limb bone morphology	118429	ANTXR2
HP:0002813	Abnormality of limb bone morphology	83696	TRAPPC9
HP:0002813	Abnormality of limb bone morphology	79600	TCTN1
HP:0002813	Abnormality of limb bone morphology	83737	ITCH
HP:0002813	Abnormality of limb bone morphology	5932	RBBP8
HP:0002813	Abnormality of limb bone morphology	126792	B3GALT6
HP:0002813	Abnormality of limb bone morphology	57167	SALL4
HP:0002813	Abnormality of limb bone morphology	10084	PQBP1
HP:0002813	Abnormality of limb bone morphology	1908	EDN3
HP:0002813	Abnormality of limb bone morphology	6049	RNF6
HP:0002813	Abnormality of limb bone morphology	1954	MEGF8
HP:0002813	Abnormality of limb bone morphology	81846	SBF2
HP:0002813	Abnormality of limb bone morphology	79813	EHMT1
HP:0002813	Abnormality of limb bone morphology	2006	ELN
HP:0006505	Abnormality of limb epiphysis morphology	126792	B3GALT6
HP:0040064	Abnormality of limbs	10300	KATNB1
HP:0040064	Abnormality of limbs	112752	IFT43
HP:0040064	Abnormality of limbs	8318	CDC45
HP:0040064	Abnormality of limbs	10370	CITED2
HP:0040064	Abnormality of limbs	2189	FANCG
HP:0040064	Abnormality of limbs	57492	ARID1B
HP:0040064	Abnormality of limbs	6305	SBF1
HP:0040064	Abnormality of limbs	2254	FGF9
HP:0040064	Abnormality of limbs	10516	FBLN5
HP:0040064	Abnormality of limbs	6443	SGCB
HP:0040064	Abnormality of limbs	8516	ITGA8
HP:0040064	Abnormality of limbs	80208	SPG11
HP:0040064	Abnormality of limbs	57697	FANCM
HP:0040064	Abnormality of limbs	10617	STAMBP
HP:0040064	Abnormality of limbs	4488	MSX2
HP:0040064	Abnormality of limbs	10682	EBP
HP:0040064	Abnormality of limbs	6660	SOX5
HP:0040064	Abnormality of limbs	6687	SPG7
HP:0040064	Abnormality of limbs	6736	SRY
HP:0040064	Abnormality of limbs	613	BCR
HP:0040064	Abnormality of limbs	2778	GNAS
HP:0040064	Abnormality of limbs	6899	TBX1
HP:0040064	Abnormality of limbs	23394	ADNP
HP:0040064	Abnormality of limbs	9150	CTDP1
HP:0040064	Abnormality of limbs	9184	BUB3
HP:0040064	Abnormality of limbs	23522	KAT6B
HP:0040064	Abnormality of limbs	5119	CHMP1A
HP:0040064	Abnormality of limbs	5130	PCYT1A
HP:0040064	Abnormality of limbs	5156	PDGFRA
HP:0040064	Abnormality of limbs	1123	CHN1
HP:0040064	Abnormality of limbs	9321	TRIP11
HP:0040064	Abnormality of limbs	1130	LYST
HP:0040064	Abnormality of limbs	9361	LONP1
HP:0040064	Abnormality of limbs	7443	VRK1
HP:0040064	Abnormality of limbs	7486	WRN
HP:0040064	Abnormality of limbs	25939	SAMHD1
HP:0040064	Abnormality of limbs	3561	IL2RG
HP:0040064	Abnormality of limbs	7681	MKRN3
HP:0040064	Abnormality of limbs	54820	NDE1
HP:0040064	Abnormality of limbs	9775	EIF4A3
HP:0040064	Abnormality of limbs	1605	DAG1
HP:0040064	Abnormality of limbs	118429	ANTXR2
HP:0040064	Abnormality of limbs	3798	KIF5A
HP:0040064	Abnormality of limbs	83696	TRAPPC9
HP:0040064	Abnormality of limbs	79600	TCTN1
HP:0040064	Abnormality of limbs	83737	ITCH
HP:0040064	Abnormality of limbs	5932	RBBP8
HP:0040064	Abnormality of limbs	126792	B3GALT6
HP:0040064	Abnormality of limbs	57167	SALL4
HP:0040064	Abnormality of limbs	10084	PQBP1
HP:0040064	Abnormality of limbs	1908	EDN3
HP:0040064	Abnormality of limbs	6049	RNF6
HP:0040064	Abnormality of limbs	1954	MEGF8
HP:0040064	Abnormality of limbs	81846	SBF2
HP:0040064	Abnormality of limbs	79813	EHMT1
HP:0040064	Abnormality of limbs	2006	ELN
HP:0040064	Abnormality of limbs	51199	NIN
HP:0003119	Abnormality of lipid metabolism	3949	LDLR
HP:0003119	Abnormality of lipid metabolism	5506	PPP1R3A
HP:0003119	Abnormality of lipid metabolism	80270	HSD3B7
HP:0003119	Abnormality of lipid metabolism	4023	LPL
HP:0003119	Abnormality of lipid metabolism	51128	SAR1B
HP:0003119	Abnormality of lipid metabolism	10682	EBP
HP:0003119	Abnormality of lipid metabolism	2006	ELN
HP:0003119	Abnormality of lipid metabolism	23534	TNPO3
HP:0011314	Abnormality of long bone morphology	5130	PCYT1A
HP:0011314	Abnormality of long bone morphology	1123	CHN1
HP:0011314	Abnormality of long bone morphology	9321	TRIP11
HP:0011314	Abnormality of long bone morphology	112752	IFT43
HP:0011314	Abnormality of long bone morphology	8318	CDC45
HP:0011314	Abnormality of long bone morphology	2189	FANCG
HP:0011314	Abnormality of long bone morphology	9361	LONP1
HP:0011314	Abnormality of long bone morphology	57492	ARID1B
HP:0011314	Abnormality of long bone morphology	2254	FGF9
HP:0011314	Abnormality of long bone morphology	57697	FANCM
HP:0011314	Abnormality of long bone morphology	10682	EBP
HP:0011314	Abnormality of long bone morphology	3561	IL2RG
HP:0011314	Abnormality of long bone morphology	9775	EIF4A3
HP:0011314	Abnormality of long bone morphology	6736	SRY
HP:0011314	Abnormality of long bone morphology	613	BCR
HP:0011314	Abnormality of long bone morphology	118429	ANTXR2
HP:0011314	Abnormality of long bone morphology	2778	GNAS
HP:0011314	Abnormality of long bone morphology	5932	RBBP8
HP:0011314	Abnormality of long bone morphology	126792	B3GALT6
HP:0011314	Abnormality of long bone morphology	57167	SALL4
HP:0011314	Abnormality of long bone morphology	1954	MEGF8
HP:0011314	Abnormality of long bone morphology	2006	ELN
HP:0040069	Abnormality of lower limb bone	5130	PCYT1A
HP:0040069	Abnormality of lower limb bone	9321	TRIP11
HP:0040069	Abnormality of lower limb bone	8318	CDC45
HP:0040069	Abnormality of lower limb bone	2189	FANCG
HP:0040069	Abnormality of lower limb bone	57492	ARID1B
HP:0040069	Abnormality of lower limb bone	2254	FGF9
HP:0040069	Abnormality of lower limb bone	7486	WRN
HP:0040069	Abnormality of lower limb bone	57697	FANCM
HP:0040069	Abnormality of lower limb bone	10682	EBP
HP:0040069	Abnormality of lower limb bone	3561	IL2RG
HP:0040069	Abnormality of lower limb bone	7681	MKRN3
HP:0040069	Abnormality of lower limb bone	9775	EIF4A3
HP:0040069	Abnormality of lower limb bone	1605	DAG1
HP:0040069	Abnormality of lower limb bone	6736	SRY
HP:0040069	Abnormality of lower limb bone	613	BCR
HP:0040069	Abnormality of lower limb bone	2778	GNAS
HP:0040069	Abnormality of lower limb bone	79600	TCTN1
HP:0040069	Abnormality of lower limb bone	6899	TBX1
HP:0040069	Abnormality of lower limb bone	126792	B3GALT6
HP:0040069	Abnormality of lower limb bone	57167	SALL4
HP:0040069	Abnormality of lower limb bone	1954	MEGF8
HP:0040069	Abnormality of lower limb bone	23522	KAT6B
HP:0006500	Abnormality of lower limb epiphysis morphology	126792	B3GALT6
HP:0100491	Abnormality of lower limb joint	9775	EIF4A3
HP:0100491	Abnormality of lower limb joint	1605	DAG1
HP:0100491	Abnormality of lower limb joint	8318	CDC45
HP:0100491	Abnormality of lower limb joint	2189	FANCG
HP:0100491	Abnormality of lower limb joint	9361	LONP1
HP:0100491	Abnormality of lower limb joint	57492	ARID1B
HP:0100491	Abnormality of lower limb joint	2254	FGF9
HP:0100491	Abnormality of lower limb joint	3798	KIF5A
HP:0100491	Abnormality of lower limb joint	6899	TBX1
HP:0100491	Abnormality of lower limb joint	126792	B3GALT6
HP:0100491	Abnormality of lower limb joint	80208	SPG11
HP:0100491	Abnormality of lower limb joint	57697	FANCM
HP:0100491	Abnormality of lower limb joint	1954	MEGF8
HP:0100491	Abnormality of lower limb joint	10682	EBP
HP:0100491	Abnormality of lower limb joint	9150	CTDP1
HP:0100491	Abnormality of lower limb joint	2006	ELN
HP:0100491	Abnormality of lower limb joint	23522	KAT6B
HP:0100491	Abnormality of lower limb joint	5119	CHMP1A
HP:0000178	Abnormality of lower lip	1123	CHN1
HP:0000178	Abnormality of lower lip	283489	CHAMP1
HP:0000178	Abnormality of lower lip	112752	IFT43
HP:0000178	Abnormality of lower lip	1909	EDNRA
HP:0000178	Abnormality of lower lip	1917	EEF1A2
HP:0000178	Abnormality of lower lip	57492	ARID1B
HP:0000178	Abnormality of lower lip	79813	EHMT1
HP:0000178	Abnormality of lower lip	2006	ELN
HP:0000178	Abnormality of lower lip	23522	KAT6B
HP:0000178	Abnormality of lower lip	2799	GNS
HP:0006490	Abnormality of lower-limb metaphyses	9321	TRIP11
HP:0008002	Abnormality of macular pigmentation	5130	PCYT1A
HP:0008002	Abnormality of macular pigmentation	6295	SAG
HP:0012369	Abnormality of malar bones	126792	B3GALT6
HP:0012369	Abnormality of malar bones	6496	SIX3
HP:0012369	Abnormality of malar bones	10084	PQBP1
HP:0012369	Abnormality of malar bones	613	BCR
HP:0012369	Abnormality of malar bones	57492	ARID1B
HP:0012369	Abnormality of malar bones	10682	EBP
HP:0012369	Abnormality of malar bones	9150	CTDP1
HP:0012369	Abnormality of malar bones	79813	EHMT1
HP:0012369	Abnormality of malar bones	2006	ELN
HP:0012369	Abnormality of malar bones	6899	TBX1
HP:0000032	Abnormality of male external genitalia	8287	USP9Y
HP:0000032	Abnormality of male external genitalia	8318	CDC45
HP:0000032	Abnormality of male external genitalia	10370	CITED2
HP:0000032	Abnormality of male external genitalia	2189	FANCG
HP:0000032	Abnormality of male external genitalia	57492	ARID1B
HP:0000032	Abnormality of male external genitalia	6295	SAG
HP:0000032	Abnormality of male external genitalia	57697	FANCM
HP:0000032	Abnormality of male external genitalia	10682	EBP
HP:0000032	Abnormality of male external genitalia	6736	SRY
HP:0000032	Abnormality of male external genitalia	2778	GNAS
HP:0000032	Abnormality of male external genitalia	64218	SEMA4A
HP:0000032	Abnormality of male external genitalia	6899	TBX1
HP:0000032	Abnormality of male external genitalia	9150	CTDP1
HP:0000032	Abnormality of male external genitalia	23522	KAT6B
HP:0000032	Abnormality of male external genitalia	5148	PDE6G
HP:0000032	Abnormality of male external genitalia	9361	LONP1
HP:0000032	Abnormality of male external genitalia	7486	WRN
HP:0000032	Abnormality of male external genitalia	7681	MKRN3
HP:0000032	Abnormality of male external genitalia	1605	DAG1
HP:0000032	Abnormality of male external genitalia	5932	RBBP8
HP:0000032	Abnormality of male external genitalia	126792	B3GALT6
HP:0000032	Abnormality of male external genitalia	10084	PQBP1
HP:0000032	Abnormality of male external genitalia	346007	EYS
HP:0000032	Abnormality of male external genitalia	1954	MEGF8
HP:0000032	Abnormality of male external genitalia	79813	EHMT1
HP:0000032	Abnormality of male external genitalia	2006	ELN
HP:0000022	Abnormality of male internal genitalia	4361	MRE11
HP:0000022	Abnormality of male internal genitalia	6736	SRY
HP:0001939	Abnormality of metabolism/homeostasis	4261	CIITA
HP:0001939	Abnormality of metabolism/homeostasis	57592	ZNF687
HP:0001939	Abnormality of metabolism/homeostasis	8452	CUL3
HP:0001939	Abnormality of metabolism/homeostasis	8516	ITGA8
HP:0001939	Abnormality of metabolism/homeostasis	57697	FANCM
HP:0001939	Abnormality of metabolism/homeostasis	53630	BCO1
HP:0001939	Abnormality of metabolism/homeostasis	445	ASS1
HP:0001939	Abnormality of metabolism/homeostasis	4594	MUT
HP:0001939	Abnormality of metabolism/homeostasis	4607	MYBPC3
HP:0001939	Abnormality of metabolism/homeostasis	4645	MYO5B
HP:0001939	Abnormality of metabolism/homeostasis	613	BCR
HP:0001939	Abnormality of metabolism/homeostasis	4729	NDUFV2
HP:0001939	Abnormality of metabolism/homeostasis	9150	CTDP1
HP:0001939	Abnormality of metabolism/homeostasis	9184	BUB3
HP:0001939	Abnormality of metabolism/homeostasis	5148	PDE6G
HP:0001939	Abnormality of metabolism/homeostasis	9321	TRIP11
HP:0001939	Abnormality of metabolism/homeostasis	1130	LYST
HP:0001939	Abnormality of metabolism/homeostasis	5230	PGK1
HP:0001939	Abnormality of metabolism/homeostasis	5506	PPP1R3A
HP:0001939	Abnormality of metabolism/homeostasis	9652	TTC37
HP:0001939	Abnormality of metabolism/homeostasis	1536	CYBB
HP:0001939	Abnormality of metabolism/homeostasis	1548	CYP2A6
HP:0001939	Abnormality of metabolism/homeostasis	1605	DAG1
HP:0001939	Abnormality of metabolism/homeostasis	83696	TRAPPC9
HP:0001939	Abnormality of metabolism/homeostasis	9997	SCO2
HP:0001939	Abnormality of metabolism/homeostasis	1908	EDN3
HP:0001939	Abnormality of metabolism/homeostasis	346007	EYS
HP:0001939	Abnormality of metabolism/homeostasis	51128	SAR1B
HP:0001939	Abnormality of metabolism/homeostasis	2006	ELN
HP:0001939	Abnormality of metabolism/homeostasis	2189	FANCG
HP:0001939	Abnormality of metabolism/homeostasis	6295	SAG
HP:0001939	Abnormality of metabolism/homeostasis	84189	SLITRK6
HP:0001939	Abnormality of metabolism/homeostasis	55532	SLC30A10
HP:0001939	Abnormality of metabolism/homeostasis	26873	OPLAH
HP:0001939	Abnormality of metabolism/homeostasis	6443	SGCB
HP:0001939	Abnormality of metabolism/homeostasis	10599	SLCO1B1
HP:0001939	Abnormality of metabolism/homeostasis	80270	HSD3B7
HP:0001939	Abnormality of metabolism/homeostasis	10682	EBP
HP:0001939	Abnormality of metabolism/homeostasis	51660	MPC1
HP:0001939	Abnormality of metabolism/homeostasis	10841	FTCD
HP:0001939	Abnormality of metabolism/homeostasis	2683	B4GALT1
HP:0001939	Abnormality of metabolism/homeostasis	10892	MALT1
HP:0001939	Abnormality of metabolism/homeostasis	2778	GNAS
HP:0001939	Abnormality of metabolism/homeostasis	64218	SEMA4A
HP:0001939	Abnormality of metabolism/homeostasis	2799	GNS
HP:0001939	Abnormality of metabolism/homeostasis	6899	TBX1
HP:0001939	Abnormality of metabolism/homeostasis	7018	TF
HP:0001939	Abnormality of metabolism/homeostasis	2934	GSN
HP:0001939	Abnormality of metabolism/homeostasis	23417	MLYCD
HP:0001939	Abnormality of metabolism/homeostasis	56246	MRAP
HP:0001939	Abnormality of metabolism/homeostasis	56262	LRRC8A
HP:0001939	Abnormality of metabolism/homeostasis	7128	TNFAIP3
HP:0001939	Abnormality of metabolism/homeostasis	23522	KAT6B
HP:0001939	Abnormality of metabolism/homeostasis	23534	TNPO3
HP:0001939	Abnormality of metabolism/homeostasis	7225	TRPC6
HP:0001939	Abnormality of metabolism/homeostasis	60528	ELAC2
HP:0001939	Abnormality of metabolism/homeostasis	3242	HPD
HP:0001939	Abnormality of metabolism/homeostasis	7486	WRN
HP:0001939	Abnormality of metabolism/homeostasis	3394	IRF8
HP:0001939	Abnormality of metabolism/homeostasis	3561	IL2RG
HP:0001939	Abnormality of metabolism/homeostasis	7681	MKRN3
HP:0001939	Abnormality of metabolism/homeostasis	56922	MCCC1
HP:0001939	Abnormality of metabolism/homeostasis	118429	ANTXR2
HP:0001939	Abnormality of metabolism/homeostasis	7957	EPM2A
HP:0001939	Abnormality of metabolism/homeostasis	3908	LAMA2
HP:0001939	Abnormality of metabolism/homeostasis	3949	LDLR
HP:0001939	Abnormality of metabolism/homeostasis	4023	LPL
HP:0010901	Abnormality of methionine metabolism	9652	TTC37
HP:0003287	Abnormality of mitochondrial metabolism	1536	CYBB
HP:0003287	Abnormality of mitochondrial metabolism	4729	NDUFV2
HP:0011077	Abnormality of molar	112752	IFT43
HP:0011070	Abnormality of molar morphology	112752	IFT43
HP:0010996	Abnormality of monocarboxylic acid metabolism	3242	HPD
HP:0010996	Abnormality of monocarboxylic acid metabolism	445	ASS1
HP:0010930	Abnormality of monovalent inorganic cation homeostasis	8452	CUL3
HP:0011338	Abnormality of mouth shape	7681	MKRN3
HP:0011338	Abnormality of mouth shape	6660	SOX5
HP:0011338	Abnormality of mouth shape	3908	LAMA2
HP:0011338	Abnormality of mouth shape	283489	CHAMP1
HP:0011338	Abnormality of mouth shape	1917	EEF1A2
HP:0011338	Abnormality of mouth shape	79813	EHMT1
HP:0011338	Abnormality of mouth shape	2006	ELN
HP:0011338	Abnormality of mouth shape	83696	TRAPPC9
HP:0011338	Abnormality of mouth shape	6899	TBX1
HP:0011337	Abnormality of mouth size	9775	EIF4A3
HP:0011337	Abnormality of mouth size	613	BCR
HP:0011337	Abnormality of mouth size	8318	CDC45
HP:0011337	Abnormality of mouth size	57492	ARID1B
HP:0011337	Abnormality of mouth size	2799	GNS
HP:0011337	Abnormality of mouth size	6899	TBX1
HP:0011337	Abnormality of mouth size	126792	B3GALT6
HP:0011337	Abnormality of mouth size	10084	PQBP1
HP:0011337	Abnormality of mouth size	9652	TTC37
HP:0011337	Abnormality of mouth size	2006	ELN
HP:0100022	Abnormality of movement	6305	SBF1
HP:0100022	Abnormality of movement	55532	SLC30A10
HP:0100022	Abnormality of movement	4361	MRE11
HP:0100022	Abnormality of movement	288	ANK3
HP:0100022	Abnormality of movement	80208	SPG11
HP:0100022	Abnormality of movement	10617	STAMBP
HP:0100022	Abnormality of movement	6531	SLC6A3
HP:0100022	Abnormality of movement	410	ARSA
HP:0100022	Abnormality of movement	6575	SLC20A2
HP:0100022	Abnormality of movement	10682	EBP
HP:0100022	Abnormality of movement	4594	MUT
HP:0100022	Abnormality of movement	6660	SOX5
HP:0100022	Abnormality of movement	2566	GABRG2
HP:0100022	Abnormality of movement	6687	SPG7
HP:0100022	Abnormality of movement	613	BCR
HP:0100022	Abnormality of movement	8913	CACNA1G
HP:0100022	Abnormality of movement	2778	GNAS
HP:0100022	Abnormality of movement	2799	GNS
HP:0100022	Abnormality of movement	6899	TBX1
HP:0100022	Abnormality of movement	23394	ADNP
HP:0100022	Abnormality of movement	283489	CHAMP1
HP:0100022	Abnormality of movement	9150	CTDP1
HP:0100022	Abnormality of movement	5119	CHMP1A
HP:0100022	Abnormality of movement	1123	CHN1
HP:0100022	Abnormality of movement	1130	LYST
HP:0100022	Abnormality of movement	1181	CLCN2
HP:0100022	Abnormality of movement	7443	VRK1
HP:0100022	Abnormality of movement	7681	MKRN3
HP:0100022	Abnormality of movement	54820	NDE1
HP:0100022	Abnormality of movement	56922	MCCC1
HP:0100022	Abnormality of movement	3798	KIF5A
HP:0100022	Abnormality of movement	83696	TRAPPC9
HP:0100022	Abnormality of movement	79600	TCTN1
HP:0100022	Abnormality of movement	7957	EPM2A
HP:0100022	Abnormality of movement	3908	LAMA2
HP:0100022	Abnormality of movement	1861	TOR1A
HP:0100022	Abnormality of movement	1917	EEF1A2
HP:0100022	Abnormality of movement	81846	SBF2
HP:0100022	Abnormality of movement	79813	EHMT1
HP:0100022	Abnormality of movement	2006	ELN
HP:0011020	Abnormality of mucopolysaccharide metabolism	2799	GNS
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	811	CALR
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1130	LYST
HP:0004303	Abnormality of muscle fibers	3908	LAMA2
HP:0011805	Abnormality of muscle morphology	8318	CDC45
HP:0011805	Abnormality of muscle morphology	57492	ARID1B
HP:0011805	Abnormality of muscle morphology	4361	MRE11
HP:0011805	Abnormality of muscle morphology	10516	FBLN5
HP:0011805	Abnormality of muscle morphology	6443	SGCB
HP:0011805	Abnormality of muscle morphology	80208	SPG11
HP:0011805	Abnormality of muscle morphology	4607	MYBPC3
HP:0011805	Abnormality of muscle morphology	6736	SRY
HP:0011805	Abnormality of muscle morphology	613	BCR
HP:0011805	Abnormality of muscle morphology	4729	NDUFV2
HP:0011805	Abnormality of muscle morphology	2683	B4GALT1
HP:0011805	Abnormality of muscle morphology	2778	GNAS
HP:0011805	Abnormality of muscle morphology	2799	GNS
HP:0011805	Abnormality of muscle morphology	9150	CTDP1
HP:0011805	Abnormality of muscle morphology	9184	BUB3
HP:0011805	Abnormality of muscle morphology	23522	KAT6B
HP:0011805	Abnormality of muscle morphology	5119	CHMP1A
HP:0011805	Abnormality of muscle morphology	1123	CHN1
HP:0011805	Abnormality of muscle morphology	5230	PGK1
HP:0011805	Abnormality of muscle morphology	7443	VRK1
HP:0011805	Abnormality of muscle morphology	9526	MPDU1
HP:0011805	Abnormality of muscle morphology	7486	WRN
HP:0011805	Abnormality of muscle morphology	25939	SAMHD1
HP:0011805	Abnormality of muscle morphology	79188	TMEM43
HP:0011805	Abnormality of muscle morphology	100128927	ZBTB42
HP:0011805	Abnormality of muscle morphology	7681	MKRN3
HP:0011805	Abnormality of muscle morphology	54820	NDE1
HP:0011805	Abnormality of muscle morphology	1605	DAG1
HP:0011805	Abnormality of muscle morphology	118429	ANTXR2
HP:0011805	Abnormality of muscle morphology	83737	ITCH
HP:0011805	Abnormality of muscle morphology	3908	LAMA2
HP:0011805	Abnormality of muscle morphology	126792	B3GALT6
HP:0011805	Abnormality of muscle morphology	57167	SALL4
HP:0011805	Abnormality of muscle morphology	10084	PQBP1
HP:0011805	Abnormality of muscle morphology	1954	MEGF8
HP:0011805	Abnormality of muscle morphology	81846	SBF2
HP:0011805	Abnormality of muscle morphology	51128	SAR1B
HP:0011805	Abnormality of muscle morphology	79813	EHMT1
HP:0011805	Abnormality of muscle morphology	2006	ELN
HP:0011804	Abnormality of muscle physiology	57492	ARID1B
HP:0011804	Abnormality of muscle physiology	4361	MRE11
HP:0011804	Abnormality of muscle physiology	288	ANK3
HP:0011804	Abnormality of muscle physiology	410	ARSA
HP:0011804	Abnormality of muscle physiology	4594	MUT
HP:0011804	Abnormality of muscle physiology	4607	MYBPC3
HP:0011804	Abnormality of muscle physiology	4729	NDUFV2
HP:0011804	Abnormality of muscle physiology	8913	CACNA1G
HP:0011804	Abnormality of muscle physiology	283489	CHAMP1
HP:0011804	Abnormality of muscle physiology	9184	BUB3
HP:0011804	Abnormality of muscle physiology	5119	CHMP1A
HP:0011804	Abnormality of muscle physiology	5130	PCYT1A
HP:0011804	Abnormality of muscle physiology	1130	LYST
HP:0011804	Abnormality of muscle physiology	5230	PGK1
HP:0011804	Abnormality of muscle physiology	9361	LONP1
HP:0011804	Abnormality of muscle physiology	9526	MPDU1
HP:0011804	Abnormality of muscle physiology	25939	SAMHD1
HP:0011804	Abnormality of muscle physiology	79188	TMEM43
HP:0011804	Abnormality of muscle physiology	54820	NDE1
HP:0011804	Abnormality of muscle physiology	1605	DAG1
HP:0011804	Abnormality of muscle physiology	5723	PSPH
HP:0011804	Abnormality of muscle physiology	83696	TRAPPC9
HP:0011804	Abnormality of muscle physiology	79600	TCTN1
HP:0011804	Abnormality of muscle physiology	9997	SCO2
HP:0011804	Abnormality of muscle physiology	1861	TOR1A
HP:0011804	Abnormality of muscle physiology	10084	PQBP1
HP:0011804	Abnormality of muscle physiology	1908	EDN3
HP:0011804	Abnormality of muscle physiology	1917	EEF1A2
HP:0011804	Abnormality of muscle physiology	55180	LINS1
HP:0011804	Abnormality of muscle physiology	51128	SAR1B
HP:0011804	Abnormality of muscle physiology	79813	EHMT1
HP:0011804	Abnormality of muscle physiology	2006	ELN
HP:0011804	Abnormality of muscle physiology	10300	KATNB1
HP:0011804	Abnormality of muscle physiology	55532	SLC30A10
HP:0011804	Abnormality of muscle physiology	10516	FBLN5
HP:0011804	Abnormality of muscle physiology	6443	SGCB
HP:0011804	Abnormality of muscle physiology	80208	SPG11
HP:0011804	Abnormality of muscle physiology	6496	SIX3
HP:0011804	Abnormality of muscle physiology	10617	STAMBP
HP:0011804	Abnormality of muscle physiology	6531	SLC6A3
HP:0011804	Abnormality of muscle physiology	10682	EBP
HP:0011804	Abnormality of muscle physiology	51660	MPC1
HP:0011804	Abnormality of muscle physiology	6660	SOX5
HP:0011804	Abnormality of muscle physiology	2566	GABRG2
HP:0011804	Abnormality of muscle physiology	113179	ADAT3
HP:0011804	Abnormality of muscle physiology	6687	SPG7
HP:0011804	Abnormality of muscle physiology	2683	B4GALT1
HP:0011804	Abnormality of muscle physiology	2778	GNAS
HP:0011804	Abnormality of muscle physiology	6899	TBX1
HP:0011804	Abnormality of muscle physiology	23394	ADNP
HP:0011804	Abnormality of muscle physiology	2934	GSN
HP:0011804	Abnormality of muscle physiology	23417	MLYCD
HP:0011804	Abnormality of muscle physiology	23522	KAT6B
HP:0011804	Abnormality of muscle physiology	60528	ELAC2
HP:0011804	Abnormality of muscle physiology	3242	HPD
HP:0011804	Abnormality of muscle physiology	7443	VRK1
HP:0011804	Abnormality of muscle physiology	7681	MKRN3
HP:0011804	Abnormality of muscle physiology	56922	MCCC1
HP:0011804	Abnormality of muscle physiology	118429	ANTXR2
HP:0011804	Abnormality of muscle physiology	3798	KIF5A
HP:0011804	Abnormality of muscle physiology	3908	LAMA2
HP:0011804	Abnormality of muscle physiology	126792	B3GALT6
HP:0011804	Abnormality of muscle physiology	57167	SALL4
HP:0011804	Abnormality of muscle physiology	81846	SBF2
HP:0030236	Abnormality of muscle size	1123	CHN1
HP:0030236	Abnormality of muscle size	4361	MRE11
HP:0030236	Abnormality of muscle size	7443	VRK1
HP:0030236	Abnormality of muscle size	10516	FBLN5
HP:0030236	Abnormality of muscle size	6443	SGCB
HP:0030236	Abnormality of muscle size	7486	WRN
HP:0030236	Abnormality of muscle size	80208	SPG11
HP:0030236	Abnormality of muscle size	79188	TMEM43
HP:0030236	Abnormality of muscle size	54820	NDE1
HP:0030236	Abnormality of muscle size	1605	DAG1
HP:0030236	Abnormality of muscle size	6736	SRY
HP:0030236	Abnormality of muscle size	4729	NDUFV2
HP:0030236	Abnormality of muscle size	118429	ANTXR2
HP:0030236	Abnormality of muscle size	2778	GNAS
HP:0030236	Abnormality of muscle size	3908	LAMA2
HP:0030236	Abnormality of muscle size	126792	B3GALT6
HP:0030236	Abnormality of muscle size	57167	SALL4
HP:0030236	Abnormality of muscle size	10084	PQBP1
HP:0030236	Abnormality of muscle size	81846	SBF2
HP:0030236	Abnormality of muscle size	79813	EHMT1
HP:0030236	Abnormality of muscle size	2006	ELN
HP:0010974	Abnormality of myeloid leukocytes	1536	CYBB
HP:0010974	Abnormality of myeloid leukocytes	5156	PDGFRA
HP:0010974	Abnormality of myeloid leukocytes	10841	FTCD
HP:0010974	Abnormality of myeloid leukocytes	613	BCR
HP:0010974	Abnormality of myeloid leukocytes	1130	LYST
HP:0010974	Abnormality of myeloid leukocytes	2189	FANCG
HP:0010974	Abnormality of myeloid leukocytes	4261	CIITA
HP:0010974	Abnormality of myeloid leukocytes	56262	LRRC8A
HP:0010974	Abnormality of myeloid leukocytes	3561	IL2RG
HP:0010974	Abnormality of myeloid leukocytes	4594	MUT
HP:0010974	Abnormality of myeloid leukocytes	4607	MYBPC3
HP:0012639	Abnormality of nervous system morphology	8318	CDC45
HP:0012639	Abnormality of nervous system morphology	57492	ARID1B
HP:0012639	Abnormality of nervous system morphology	4261	CIITA
HP:0012639	Abnormality of nervous system morphology	4361	MRE11
HP:0012639	Abnormality of nervous system morphology	57697	FANCM
HP:0012639	Abnormality of nervous system morphology	4488	MSX2
HP:0012639	Abnormality of nervous system morphology	410	ARSA
HP:0012639	Abnormality of nervous system morphology	445	ASS1
HP:0012639	Abnormality of nervous system morphology	4594	MUT
HP:0012639	Abnormality of nervous system morphology	613	BCR
HP:0012639	Abnormality of nervous system morphology	4729	NDUFV2
HP:0012639	Abnormality of nervous system morphology	8913	CACNA1G
HP:0012639	Abnormality of nervous system morphology	811	CALR
HP:0012639	Abnormality of nervous system morphology	283489	CHAMP1
HP:0012639	Abnormality of nervous system morphology	9150	CTDP1
HP:0012639	Abnormality of nervous system morphology	9184	BUB3
HP:0012639	Abnormality of nervous system morphology	5119	CHMP1A
HP:0012639	Abnormality of nervous system morphology	5130	PCYT1A
HP:0012639	Abnormality of nervous system morphology	5156	PDGFRA
HP:0012639	Abnormality of nervous system morphology	1123	CHN1
HP:0012639	Abnormality of nervous system morphology	1130	LYST
HP:0012639	Abnormality of nervous system morphology	5230	PGK1
HP:0012639	Abnormality of nervous system morphology	9361	LONP1
HP:0012639	Abnormality of nervous system morphology	1181	CLCN2
HP:0012639	Abnormality of nervous system morphology	9526	MPDU1
HP:0012639	Abnormality of nervous system morphology	25939	SAMHD1
HP:0012639	Abnormality of nervous system morphology	1536	CYBB
HP:0012639	Abnormality of nervous system morphology	54820	NDE1
HP:0012639	Abnormality of nervous system morphology	1605	DAG1
HP:0012639	Abnormality of nervous system morphology	5723	PSPH
HP:0012639	Abnormality of nervous system morphology	124590	USH1G
HP:0012639	Abnormality of nervous system morphology	83696	TRAPPC9
HP:0012639	Abnormality of nervous system morphology	79600	TCTN1
HP:0012639	Abnormality of nervous system morphology	9997	SCO2
HP:0012639	Abnormality of nervous system morphology	5932	RBBP8
HP:0012639	Abnormality of nervous system morphology	10084	PQBP1
HP:0012639	Abnormality of nervous system morphology	1908	EDN3
HP:0012639	Abnormality of nervous system morphology	1917	EEF1A2
HP:0012639	Abnormality of nervous system morphology	55180	LINS1
HP:0012639	Abnormality of nervous system morphology	51128	SAR1B
HP:0012639	Abnormality of nervous system morphology	255928	SYT14
HP:0012639	Abnormality of nervous system morphology	79813	EHMT1
HP:0012639	Abnormality of nervous system morphology	2006	ELN
HP:0012639	Abnormality of nervous system morphology	51199	NIN
HP:0012639	Abnormality of nervous system morphology	10300	KATNB1
HP:0012639	Abnormality of nervous system morphology	2189	FANCG
HP:0012639	Abnormality of nervous system morphology	6305	SBF1
HP:0012639	Abnormality of nervous system morphology	55532	SLC30A10
HP:0012639	Abnormality of nervous system morphology	10516	FBLN5
HP:0012639	Abnormality of nervous system morphology	10518	CIB2
HP:0012639	Abnormality of nervous system morphology	80208	SPG11
HP:0012639	Abnormality of nervous system morphology	6496	SIX3
HP:0012639	Abnormality of nervous system morphology	10617	STAMBP
HP:0012639	Abnormality of nervous system morphology	6531	SLC6A3
HP:0012639	Abnormality of nervous system morphology	80270	HSD3B7
HP:0012639	Abnormality of nervous system morphology	6575	SLC20A2
HP:0012639	Abnormality of nervous system morphology	10682	EBP
HP:0012639	Abnormality of nervous system morphology	51660	MPC1
HP:0012639	Abnormality of nervous system morphology	6660	SOX5
HP:0012639	Abnormality of nervous system morphology	2566	GABRG2
HP:0012639	Abnormality of nervous system morphology	113179	ADAT3
HP:0012639	Abnormality of nervous system morphology	6687	SPG7
HP:0012639	Abnormality of nervous system morphology	6736	SRY
HP:0012639	Abnormality of nervous system morphology	2683	B4GALT1
HP:0012639	Abnormality of nervous system morphology	27286	SRPX2
HP:0012639	Abnormality of nervous system morphology	2778	GNAS
HP:0012639	Abnormality of nervous system morphology	6899	TBX1
HP:0012639	Abnormality of nervous system morphology	2934	GSN
HP:0012639	Abnormality of nervous system morphology	23417	MLYCD
HP:0012639	Abnormality of nervous system morphology	56262	LRRC8A
HP:0012639	Abnormality of nervous system morphology	23522	KAT6B
HP:0012639	Abnormality of nervous system morphology	60528	ELAC2
HP:0012639	Abnormality of nervous system morphology	7443	VRK1
HP:0012639	Abnormality of nervous system morphology	7486	WRN
HP:0012639	Abnormality of nervous system morphology	3426	CFI
HP:0012639	Abnormality of nervous system morphology	7546	ZIC2
HP:0012639	Abnormality of nervous system morphology	3561	IL2RG
HP:0012639	Abnormality of nervous system morphology	7681	MKRN3
HP:0012639	Abnormality of nervous system morphology	56922	MCCC1
HP:0012639	Abnormality of nervous system morphology	3798	KIF5A
HP:0012639	Abnormality of nervous system morphology	3908	LAMA2
HP:0012639	Abnormality of nervous system morphology	126792	B3GALT6
HP:0012639	Abnormality of nervous system morphology	57167	SALL4
HP:0012639	Abnormality of nervous system morphology	3949	LDLR
HP:0012639	Abnormality of nervous system morphology	81846	SBF2
HP:0012638	Abnormality of nervous system physiology	8318	CDC45
HP:0012638	Abnormality of nervous system physiology	57492	ARID1B
HP:0012638	Abnormality of nervous system physiology	186	AGTR2
HP:0012638	Abnormality of nervous system physiology	57609	DIP2B
HP:0012638	Abnormality of nervous system physiology	4361	MRE11
HP:0012638	Abnormality of nervous system physiology	288	ANK3
HP:0012638	Abnormality of nervous system physiology	57697	FANCM
HP:0012638	Abnormality of nervous system physiology	4488	MSX2
HP:0012638	Abnormality of nervous system physiology	410	ARSA
HP:0012638	Abnormality of nervous system physiology	445	ASS1
HP:0012638	Abnormality of nervous system physiology	4594	MUT
HP:0012638	Abnormality of nervous system physiology	4645	MYO5B
HP:0012638	Abnormality of nervous system physiology	613	BCR
HP:0012638	Abnormality of nervous system physiology	4729	NDUFV2
HP:0012638	Abnormality of nervous system physiology	8913	CACNA1G
HP:0012638	Abnormality of nervous system physiology	283489	CHAMP1
HP:0012638	Abnormality of nervous system physiology	9150	CTDP1
HP:0012638	Abnormality of nervous system physiology	9184	BUB3
HP:0012638	Abnormality of nervous system physiology	5119	CHMP1A
HP:0012638	Abnormality of nervous system physiology	5130	PCYT1A
HP:0012638	Abnormality of nervous system physiology	5148	PDE6G
HP:0012638	Abnormality of nervous system physiology	5156	PDGFRA
HP:0012638	Abnormality of nervous system physiology	1123	CHN1
HP:0012638	Abnormality of nervous system physiology	1130	LYST
HP:0012638	Abnormality of nervous system physiology	5230	PGK1
HP:0012638	Abnormality of nervous system physiology	9361	LONP1
HP:0012638	Abnormality of nervous system physiology	1181	CLCN2
HP:0012638	Abnormality of nervous system physiology	9526	MPDU1
HP:0012638	Abnormality of nervous system physiology	25913	POT1
HP:0012638	Abnormality of nervous system physiology	25939	SAMHD1
HP:0012638	Abnormality of nervous system physiology	9652	TTC37
HP:0012638	Abnormality of nervous system physiology	54820	NDE1
HP:0012638	Abnormality of nervous system physiology	9775	EIF4A3
HP:0012638	Abnormality of nervous system physiology	1605	DAG1
HP:0012638	Abnormality of nervous system physiology	5723	PSPH
HP:0012638	Abnormality of nervous system physiology	124590	USH1G
HP:0012638	Abnormality of nervous system physiology	83696	TRAPPC9
HP:0012638	Abnormality of nervous system physiology	79600	TCTN1
HP:0012638	Abnormality of nervous system physiology	9997	SCO2
HP:0012638	Abnormality of nervous system physiology	83737	ITCH
HP:0012638	Abnormality of nervous system physiology	5932	RBBP8
HP:0012638	Abnormality of nervous system physiology	1861	TOR1A
HP:0012638	Abnormality of nervous system physiology	10084	PQBP1
HP:0012638	Abnormality of nervous system physiology	1908	EDN3
HP:0012638	Abnormality of nervous system physiology	1917	EEF1A2
HP:0012638	Abnormality of nervous system physiology	55180	LINS1
HP:0012638	Abnormality of nervous system physiology	346007	EYS
HP:0012638	Abnormality of nervous system physiology	1954	MEGF8
HP:0012638	Abnormality of nervous system physiology	51128	SAR1B
HP:0012638	Abnormality of nervous system physiology	255928	SYT14
HP:0012638	Abnormality of nervous system physiology	79813	EHMT1
HP:0012638	Abnormality of nervous system physiology	2006	ELN
HP:0012638	Abnormality of nervous system physiology	51199	NIN
HP:0012638	Abnormality of nervous system physiology	10300	KATNB1
HP:0012638	Abnormality of nervous system physiology	2189	FANCG
HP:0012638	Abnormality of nervous system physiology	6295	SAG
HP:0012638	Abnormality of nervous system physiology	6305	SBF1
HP:0012638	Abnormality of nervous system physiology	84189	SLITRK6
HP:0012638	Abnormality of nervous system physiology	55532	SLC30A10
HP:0012638	Abnormality of nervous system physiology	10516	FBLN5
HP:0012638	Abnormality of nervous system physiology	10518	CIB2
HP:0012638	Abnormality of nervous system physiology	80208	SPG11
HP:0012638	Abnormality of nervous system physiology	6496	SIX3
HP:0012638	Abnormality of nervous system physiology	10617	STAMBP
HP:0012638	Abnormality of nervous system physiology	6531	SLC6A3
HP:0012638	Abnormality of nervous system physiology	6575	SLC20A2
HP:0012638	Abnormality of nervous system physiology	10682	EBP
HP:0012638	Abnormality of nervous system physiology	51660	MPC1
HP:0012638	Abnormality of nervous system physiology	6660	SOX5
HP:0012638	Abnormality of nervous system physiology	2566	GABRG2
HP:0012638	Abnormality of nervous system physiology	113179	ADAT3
HP:0012638	Abnormality of nervous system physiology	6687	SPG7
HP:0012638	Abnormality of nervous system physiology	6736	SRY
HP:0012638	Abnormality of nervous system physiology	10841	FTCD
HP:0012638	Abnormality of nervous system physiology	2683	B4GALT1
HP:0012638	Abnormality of nervous system physiology	27286	SRPX2
HP:0012638	Abnormality of nervous system physiology	2778	GNAS
HP:0012638	Abnormality of nervous system physiology	64218	SEMA4A
HP:0012638	Abnormality of nervous system physiology	2799	GNS
HP:0012638	Abnormality of nervous system physiology	6899	TBX1
HP:0012638	Abnormality of nervous system physiology	23394	ADNP
HP:0012638	Abnormality of nervous system physiology	2934	GSN
HP:0012638	Abnormality of nervous system physiology	23417	MLYCD
HP:0012638	Abnormality of nervous system physiology	23522	KAT6B
HP:0012638	Abnormality of nervous system physiology	23534	TNPO3
HP:0012638	Abnormality of nervous system physiology	60528	ELAC2
HP:0012638	Abnormality of nervous system physiology	3242	HPD
HP:0012638	Abnormality of nervous system physiology	7443	VRK1
HP:0012638	Abnormality of nervous system physiology	7546	ZIC2
HP:0012638	Abnormality of nervous system physiology	7681	MKRN3
HP:0012638	Abnormality of nervous system physiology	56922	MCCC1
HP:0012638	Abnormality of nervous system physiology	3798	KIF5A
HP:0012638	Abnormality of nervous system physiology	7957	EPM2A
HP:0012638	Abnormality of nervous system physiology	3908	LAMA2
HP:0012638	Abnormality of nervous system physiology	126792	B3GALT6
HP:0012638	Abnormality of nervous system physiology	3949	LDLR
HP:0012638	Abnormality of nervous system physiology	81846	SBF2
HP:0002269	Abnormality of neuronal migration	5130	PCYT1A
HP:0002269	Abnormality of neuronal migration	54820	NDE1
HP:0002269	Abnormality of neuronal migration	10300	KATNB1
HP:0002269	Abnormality of neuronal migration	1605	DAG1
HP:0002269	Abnormality of neuronal migration	27286	SRPX2
HP:0002269	Abnormality of neuronal migration	79600	TCTN1
HP:0002269	Abnormality of neuronal migration	3908	LAMA2
HP:0002269	Abnormality of neuronal migration	23417	MLYCD
HP:0002269	Abnormality of neuronal migration	6575	SLC20A2
HP:0002269	Abnormality of neuronal migration	23522	KAT6B
HP:0011992	Abnormality of neutrophil morphology	10841	FTCD
HP:0011990	Abnormality of neutrophil physiology	1536	CYBB
HP:0001874	Abnormality of neutrophils	1536	CYBB
HP:0001874	Abnormality of neutrophils	10841	FTCD
HP:0001874	Abnormality of neutrophils	1130	LYST
HP:0001874	Abnormality of neutrophils	2189	FANCG
HP:0001874	Abnormality of neutrophils	4261	CIITA
HP:0001874	Abnormality of neutrophils	56262	LRRC8A
HP:0001874	Abnormality of neutrophils	4594	MUT
HP:0001874	Abnormality of neutrophils	4607	MYBPC3
HP:0004364	Abnormality of nitrogen compound homeostasis	5506	PPP1R3A
HP:0004364	Abnormality of nitrogen compound homeostasis	445	ASS1
HP:0004364	Abnormality of nitrogen compound homeostasis	56922	MCCC1
HP:0004364	Abnormality of nitrogen compound homeostasis	4594	MUT
HP:0010932	Abnormality of nucleobase metabolism	5506	PPP1R3A
HP:0010932	Abnormality of nucleobase metabolism	445	ASS1
HP:0011347	Abnormality of ocular abduction	57167	SALL4
HP:0000617	Abnormality of ocular smooth pursuit	4361	MRE11
HP:0000617	Abnormality of ocular smooth pursuit	8913	CACNA1G
HP:0000617	Abnormality of ocular smooth pursuit	80208	SPG11
HP:0000617	Abnormality of ocular smooth pursuit	255928	SYT14
HP:3000050	Abnormality of odontoid tissue	10518	CIB2
HP:3000050	Abnormality of odontoid tissue	5932	RBBP8
HP:3000050	Abnormality of odontoid tissue	112752	IFT43
HP:3000050	Abnormality of odontoid tissue	9361	LONP1
HP:3000050	Abnormality of odontoid tissue	124590	USH1G
HP:3000050	Abnormality of odontoid tissue	2006	ELN
HP:3000050	Abnormality of odontoid tissue	2778	GNAS
HP:3000050	Abnormality of odontoid tissue	6899	TBX1
HP:0025057	Abnormality of olfactory lobe morphology	1908	EDN3
HP:0011830	Abnormality of oral mucosa	1536	CYBB
HP:0011830	Abnormality of oral mucosa	1130	LYST
HP:0011830	Abnormality of oral mucosa	118429	ANTXR2
HP:0011830	Abnormality of oral mucosa	3257	HPS1
HP:0011830	Abnormality of oral mucosa	126792	B3GALT6
HP:0011830	Abnormality of oral mucosa	2006	ELN
HP:0011830	Abnormality of oral mucosa	7128	TNFAIP3
HP:0010928	Abnormality of orotic acid metabolism	445	ASS1
HP:0010832	Abnormality of pain sensation	7681	MKRN3
HP:0010832	Abnormality of pain sensation	283489	CHAMP1
HP:0012091	Abnormality of pancreas physiology	4023	LPL
HP:0012091	Abnormality of pancreas physiology	4594	MUT
HP:0002644	Abnormality of pelvic girdle bone morphology	5130	PCYT1A
HP:0002644	Abnormality of pelvic girdle bone morphology	9321	TRIP11
HP:0002644	Abnormality of pelvic girdle bone morphology	2189	FANCG
HP:0002644	Abnormality of pelvic girdle bone morphology	9361	LONP1
HP:0002644	Abnormality of pelvic girdle bone morphology	57492	ARID1B
HP:0002644	Abnormality of pelvic girdle bone morphology	57697	FANCM
HP:0002644	Abnormality of pelvic girdle bone morphology	10682	EBP
HP:0002644	Abnormality of pelvic girdle bone morphology	7681	MKRN3
HP:0002644	Abnormality of pelvic girdle bone morphology	9775	EIF4A3
HP:0002644	Abnormality of pelvic girdle bone morphology	5932	RBBP8
HP:0002644	Abnormality of pelvic girdle bone morphology	126792	B3GALT6
HP:0002644	Abnormality of pelvic girdle bone morphology	2006	ELN
HP:0002644	Abnormality of pelvic girdle bone morphology	23522	KAT6B
HP:0002644	Abnormality of pelvic girdle bone morphology	51199	NIN
HP:0000383	Abnormality of periauricular region	10370	CITED2
HP:0000383	Abnormality of periauricular region	57492	ARID1B
HP:0000383	Abnormality of periauricular region	1123	CHN1
HP:0000383	Abnormality of periauricular region	6899	TBX1
HP:0000383	Abnormality of periauricular region	1909	EDNRA
HP:0003134	Abnormality of peripheral nerve conduction	10516	FBLN5
HP:0003134	Abnormality of peripheral nerve conduction	1130	LYST
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA
HP:0003134	Abnormality of peripheral nerve conduction	6305	SBF1
HP:0003134	Abnormality of peripheral nerve conduction	81846	SBF2
HP:0003134	Abnormality of peripheral nerve conduction	9150	CTDP1
HP:0045010	Abnormality of peripheral nerves	10516	FBLN5
HP:0045010	Abnormality of peripheral nerves	1130	LYST
HP:0045010	Abnormality of peripheral nerves	410	ARSA
HP:0045010	Abnormality of peripheral nerves	6305	SBF1
HP:0045010	Abnormality of peripheral nerves	81846	SBF2
HP:0045010	Abnormality of peripheral nerves	9150	CTDP1
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10516	FBLN5
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1130	LYST
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6305	SBF1
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81846	SBF2
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9150	CTDP1
HP:0011071	Abnormality of permanent molar morphology	112752	IFT43
HP:0010977	Abnormality of phagocytes	1536	CYBB
HP:0006261	Abnormality of phalangeal joints of the hand	57167	SALL4
HP:0006261	Abnormality of phalangeal joints of the hand	613	BCR
HP:0006261	Abnormality of phalangeal joints of the hand	8318	CDC45
HP:0006261	Abnormality of phalangeal joints of the hand	57492	ARID1B
HP:0006261	Abnormality of phalangeal joints of the hand	118429	ANTXR2
HP:0006261	Abnormality of phalangeal joints of the hand	9150	CTDP1
HP:0006261	Abnormality of phalangeal joints of the hand	2254	FGF9
HP:0006261	Abnormality of phalangeal joints of the hand	23522	KAT6B
HP:0005918	Abnormality of phalanx of finger	1123	CHN1
HP:0005918	Abnormality of phalanx of finger	112752	IFT43
HP:0005918	Abnormality of phalanx of finger	8318	CDC45
HP:0005918	Abnormality of phalanx of finger	2189	FANCG
HP:0005918	Abnormality of phalanx of finger	9361	LONP1
HP:0005918	Abnormality of phalanx of finger	57492	ARID1B
HP:0005918	Abnormality of phalanx of finger	2254	FGF9
HP:0005918	Abnormality of phalanx of finger	57697	FANCM
HP:0005918	Abnormality of phalanx of finger	10617	STAMBP
HP:0005918	Abnormality of phalanx of finger	4488	MSX2
HP:0005918	Abnormality of phalanx of finger	9775	EIF4A3
HP:0005918	Abnormality of phalanx of finger	613	BCR
HP:0005918	Abnormality of phalanx of finger	118429	ANTXR2
HP:0005918	Abnormality of phalanx of finger	2778	GNAS
HP:0005918	Abnormality of phalanx of finger	79600	TCTN1
HP:0005918	Abnormality of phalanx of finger	6899	TBX1
HP:0005918	Abnormality of phalanx of finger	5932	RBBP8
HP:0005918	Abnormality of phalanx of finger	126792	B3GALT6
HP:0005918	Abnormality of phalanx of finger	57167	SALL4
HP:0005918	Abnormality of phalanx of finger	1954	MEGF8
HP:0005918	Abnormality of phalanx of finger	9150	CTDP1
HP:0005918	Abnormality of phalanx of finger	23522	KAT6B
HP:0010893	Abnormality of phenylalanine metabolism	10841	FTCD
HP:0100529	Abnormality of phosphate homeostasis	2778	GNAS
HP:0011012	Abnormality of polysaccharide metabolism	2799	GNS
HP:0011042	Abnormality of potassium homeostasis	8452	CUL3
HP:0001197	Abnormality of prenatal development or birth	9321	TRIP11
HP:0001197	Abnormality of prenatal development or birth	2189	FANCG
HP:0001197	Abnormality of prenatal development or birth	9361	LONP1
HP:0001197	Abnormality of prenatal development or birth	10516	FBLN5
HP:0001197	Abnormality of prenatal development or birth	7486	WRN
HP:0001197	Abnormality of prenatal development or birth	8516	ITGA8
HP:0001197	Abnormality of prenatal development or birth	57697	FANCM
HP:0001197	Abnormality of prenatal development or birth	100128927	ZBTB42
HP:0001197	Abnormality of prenatal development or birth	5506	PPP1R3A
HP:0001197	Abnormality of prenatal development or birth	9652	TTC37
HP:0001197	Abnormality of prenatal development or birth	10682	EBP
HP:0001197	Abnormality of prenatal development or birth	7681	MKRN3
HP:0001197	Abnormality of prenatal development or birth	613	BCR
HP:0001197	Abnormality of prenatal development or birth	6899	TBX1
HP:0001197	Abnormality of prenatal development or birth	64321	SOX17
HP:0001197	Abnormality of prenatal development or birth	2006	ELN
HP:0001197	Abnormality of prenatal development or birth	9184	BUB3
HP:0001197	Abnormality of prenatal development or birth	23522	KAT6B
HP:0006481	Abnormality of primary teeth	79813	EHMT1
HP:0006481	Abnormality of primary teeth	126792	B3GALT6
HP:0006481	Abnormality of primary teeth	1909	EDNRA
HP:0010907	Abnormality of proline metabolism	26873	OPLAH
HP:0030875	Abnormality of pulmonary circulation	3908	LAMA2
HP:0004352	Abnormality of purine metabolism	5506	PPP1R3A
HP:0004353	Abnormality of pyrimidine metabolism	445	ASS1
HP:0000539	Abnormality of refraction	7681	MKRN3
HP:0000539	Abnormality of refraction	6660	SOX5
HP:0000539	Abnormality of refraction	5130	PCYT1A
HP:0000539	Abnormality of refraction	1605	DAG1
HP:0000539	Abnormality of refraction	112752	IFT43
HP:0000539	Abnormality of refraction	8318	CDC45
HP:0000539	Abnormality of refraction	2189	FANCG
HP:0000539	Abnormality of refraction	57492	ARID1B
HP:0000539	Abnormality of refraction	6295	SAG
HP:0000539	Abnormality of refraction	124590	USH1G
HP:0000539	Abnormality of refraction	84189	SLITRK6
HP:0000539	Abnormality of refraction	9997	SCO2
HP:0000539	Abnormality of refraction	10518	CIB2
HP:0000539	Abnormality of refraction	126792	B3GALT6
HP:0000539	Abnormality of refraction	57697	FANCM
HP:0000539	Abnormality of refraction	23394	ADNP
HP:0000539	Abnormality of refraction	10084	PQBP1
HP:0000539	Abnormality of refraction	283489	CHAMP1
HP:0000539	Abnormality of refraction	1414	CRYBB1
HP:0000539	Abnormality of refraction	4488	MSX2
HP:0000539	Abnormality of refraction	1421	CRYGD
HP:0000539	Abnormality of refraction	2006	ELN
HP:0000539	Abnormality of refraction	5119	CHMP1A
HP:0011035	Abnormality of renal cortex morphology	7225	TRPC6
HP:0011035	Abnormality of renal cortex morphology	3426	CFI
HP:0011035	Abnormality of renal cortex morphology	9652	TTC37
HP:0000095	Abnormality of renal glomerulus morphology	7225	TRPC6
HP:0000095	Abnormality of renal glomerulus morphology	3426	CFI
HP:0000080	Abnormality of reproductive system physiology	5148	PDE6G
HP:0000080	Abnormality of reproductive system physiology	8287	USP9Y
HP:0000080	Abnormality of reproductive system physiology	2189	FANCG
HP:0000080	Abnormality of reproductive system physiology	6295	SAG
HP:0000080	Abnormality of reproductive system physiology	7486	WRN
HP:0000080	Abnormality of reproductive system physiology	57697	FANCM
HP:0000080	Abnormality of reproductive system physiology	7681	MKRN3
HP:0000080	Abnormality of reproductive system physiology	6736	SRY
HP:0000080	Abnormality of reproductive system physiology	2778	GNAS
HP:0000080	Abnormality of reproductive system physiology	64218	SEMA4A
HP:0000080	Abnormality of reproductive system physiology	346007	EYS
HP:0000080	Abnormality of reproductive system physiology	9150	CTDP1
HP:0000080	Abnormality of reproductive system physiology	2006	ELN
HP:0000080	Abnormality of reproductive system physiology	23522	KAT6B
HP:0004312	Abnormality of reticulocytes	5230	PGK1
HP:0007703	Abnormality of retinal pigmentation	5130	PCYT1A
HP:0007703	Abnormality of retinal pigmentation	5148	PDE6G
HP:0007703	Abnormality of retinal pigmentation	6295	SAG
HP:0007703	Abnormality of retinal pigmentation	64218	SEMA4A
HP:0007703	Abnormality of retinal pigmentation	7486	WRN
HP:0007703	Abnormality of retinal pigmentation	1908	EDN3
HP:0007703	Abnormality of retinal pigmentation	346007	EYS
HP:0000570	Abnormality of saccadic eye movements	4361	MRE11
HP:0100755	Abnormality of salivation	2799	GNS
HP:0009888	Abnormality of secondary sexual hair	6736	SRY
HP:0010894	Abnormality of serine family amino acid metabolism	4594	MUT
HP:0003112	Abnormality of serum amino acid levels	4594	MUT
HP:0003112	Abnormality of serum amino acid levels	445	ASS1
HP:0000927	Abnormality of skeletal maturation	7681	MKRN3
HP:0000927	Abnormality of skeletal maturation	6736	SRY
HP:0000927	Abnormality of skeletal maturation	8318	CDC45
HP:0000927	Abnormality of skeletal maturation	10892	MALT1
HP:0000927	Abnormality of skeletal maturation	9361	LONP1
HP:0000927	Abnormality of skeletal maturation	57492	ARID1B
HP:0000927	Abnormality of skeletal maturation	5932	RBBP8
HP:0000927	Abnormality of skeletal maturation	2006	ELN
HP:0000927	Abnormality of skeletal maturation	23522	KAT6B
HP:0000927	Abnormality of skeletal maturation	51199	NIN
HP:0011842	Abnormality of skeletal morphology	8318	CDC45
HP:0011842	Abnormality of skeletal morphology	57492	ARID1B
HP:0011842	Abnormality of skeletal morphology	57592	ZNF687
HP:0011842	Abnormality of skeletal morphology	8516	ITGA8
HP:0011842	Abnormality of skeletal morphology	57697	FANCM
HP:0011842	Abnormality of skeletal morphology	4488	MSX2
HP:0011842	Abnormality of skeletal morphology	613	BCR
HP:0011842	Abnormality of skeletal morphology	4729	NDUFV2
HP:0011842	Abnormality of skeletal morphology	811	CALR
HP:0011842	Abnormality of skeletal morphology	283489	CHAMP1
HP:0011842	Abnormality of skeletal morphology	9150	CTDP1
HP:0011842	Abnormality of skeletal morphology	9184	BUB3
HP:0011842	Abnormality of skeletal morphology	5119	CHMP1A
HP:0011842	Abnormality of skeletal morphology	5130	PCYT1A
HP:0011842	Abnormality of skeletal morphology	1123	CHN1
HP:0011842	Abnormality of skeletal morphology	9321	TRIP11
HP:0011842	Abnormality of skeletal morphology	9361	LONP1
HP:0011842	Abnormality of skeletal morphology	9526	MPDU1
HP:0011842	Abnormality of skeletal morphology	25939	SAMHD1
HP:0011842	Abnormality of skeletal morphology	79188	TMEM43
HP:0011842	Abnormality of skeletal morphology	9652	TTC37
HP:0011842	Abnormality of skeletal morphology	1536	CYBB
HP:0011842	Abnormality of skeletal morphology	54820	NDE1
HP:0011842	Abnormality of skeletal morphology	9775	EIF4A3
HP:0011842	Abnormality of skeletal morphology	1605	DAG1
HP:0011842	Abnormality of skeletal morphology	5723	PSPH
HP:0011842	Abnormality of skeletal morphology	83696	TRAPPC9
HP:0011842	Abnormality of skeletal morphology	79600	TCTN1
HP:0011842	Abnormality of skeletal morphology	83737	ITCH
HP:0011842	Abnormality of skeletal morphology	5932	RBBP8
HP:0011842	Abnormality of skeletal morphology	1861	TOR1A
HP:0011842	Abnormality of skeletal morphology	10084	PQBP1
HP:0011842	Abnormality of skeletal morphology	1908	EDN3
HP:0011842	Abnormality of skeletal morphology	1909	EDNRA
HP:0011842	Abnormality of skeletal morphology	1917	EEF1A2
HP:0011842	Abnormality of skeletal morphology	55180	LINS1
HP:0011842	Abnormality of skeletal morphology	6049	RNF6
HP:0011842	Abnormality of skeletal morphology	1954	MEGF8
HP:0011842	Abnormality of skeletal morphology	79813	EHMT1
HP:0011842	Abnormality of skeletal morphology	2006	ELN
HP:0011842	Abnormality of skeletal morphology	51199	NIN
HP:0011842	Abnormality of skeletal morphology	10300	KATNB1
HP:0011842	Abnormality of skeletal morphology	112752	IFT43
HP:0011842	Abnormality of skeletal morphology	10370	CITED2
HP:0011842	Abnormality of skeletal morphology	2189	FANCG
HP:0011842	Abnormality of skeletal morphology	6305	SBF1
HP:0011842	Abnormality of skeletal morphology	2254	FGF9
HP:0011842	Abnormality of skeletal morphology	10516	FBLN5
HP:0011842	Abnormality of skeletal morphology	6443	SGCB
HP:0011842	Abnormality of skeletal morphology	80208	SPG11
HP:0011842	Abnormality of skeletal morphology	6496	SIX3
HP:0011842	Abnormality of skeletal morphology	10617	STAMBP
HP:0011842	Abnormality of skeletal morphology	80270	HSD3B7
HP:0011842	Abnormality of skeletal morphology	6575	SLC20A2
HP:0011842	Abnormality of skeletal morphology	10682	EBP
HP:0011842	Abnormality of skeletal morphology	51660	MPC1
HP:0011842	Abnormality of skeletal morphology	6660	SOX5
HP:0011842	Abnormality of skeletal morphology	113179	ADAT3
HP:0011842	Abnormality of skeletal morphology	6687	SPG7
HP:0011842	Abnormality of skeletal morphology	6736	SRY
HP:0011842	Abnormality of skeletal morphology	2683	B4GALT1
HP:0011842	Abnormality of skeletal morphology	10892	MALT1
HP:0011842	Abnormality of skeletal morphology	2778	GNAS
HP:0011842	Abnormality of skeletal morphology	2799	GNS
HP:0011842	Abnormality of skeletal morphology	6899	TBX1
HP:0011842	Abnormality of skeletal morphology	23394	ADNP
HP:0011842	Abnormality of skeletal morphology	7018	TF
HP:0011842	Abnormality of skeletal morphology	56262	LRRC8A
HP:0011842	Abnormality of skeletal morphology	7128	TNFAIP3
HP:0011842	Abnormality of skeletal morphology	23522	KAT6B
HP:0011842	Abnormality of skeletal morphology	23534	TNPO3
HP:0011842	Abnormality of skeletal morphology	60528	ELAC2
HP:0011842	Abnormality of skeletal morphology	7341	SUMO1
HP:0011842	Abnormality of skeletal morphology	7443	VRK1
HP:0011842	Abnormality of skeletal morphology	7486	WRN
HP:0011842	Abnormality of skeletal morphology	3426	CFI
HP:0011842	Abnormality of skeletal morphology	100128927	ZBTB42
HP:0011842	Abnormality of skeletal morphology	7546	ZIC2
HP:0011842	Abnormality of skeletal morphology	3561	IL2RG
HP:0011842	Abnormality of skeletal morphology	7681	MKRN3
HP:0011842	Abnormality of skeletal morphology	118429	ANTXR2
HP:0011842	Abnormality of skeletal morphology	3798	KIF5A
HP:0011842	Abnormality of skeletal morphology	3908	LAMA2
HP:0011842	Abnormality of skeletal morphology	126792	B3GALT6
HP:0011842	Abnormality of skeletal morphology	57167	SALL4
HP:0011842	Abnormality of skeletal morphology	3949	LDLR
HP:0011842	Abnormality of skeletal morphology	81846	SBF2
HP:0040290	Abnormality of skeletal muscles	1123	CHN1
HP:0040290	Abnormality of skeletal muscles	4361	MRE11
HP:0040290	Abnormality of skeletal muscles	7443	VRK1
HP:0040290	Abnormality of skeletal muscles	10516	FBLN5
HP:0040290	Abnormality of skeletal muscles	6443	SGCB
HP:0040290	Abnormality of skeletal muscles	7486	WRN
HP:0040290	Abnormality of skeletal muscles	80208	SPG11
HP:0040290	Abnormality of skeletal muscles	79188	TMEM43
HP:0040290	Abnormality of skeletal muscles	54820	NDE1
HP:0040290	Abnormality of skeletal muscles	1605	DAG1
HP:0040290	Abnormality of skeletal muscles	6736	SRY
HP:0040290	Abnormality of skeletal muscles	4729	NDUFV2
HP:0040290	Abnormality of skeletal muscles	118429	ANTXR2
HP:0040290	Abnormality of skeletal muscles	2778	GNAS
HP:0040290	Abnormality of skeletal muscles	3908	LAMA2
HP:0040290	Abnormality of skeletal muscles	126792	B3GALT6
HP:0040290	Abnormality of skeletal muscles	10084	PQBP1
HP:0040290	Abnormality of skeletal muscles	81846	SBF2
HP:0040290	Abnormality of skeletal muscles	79813	EHMT1
HP:0040290	Abnormality of skeletal muscles	2006	ELN
HP:0011843	Abnormality of skeletal physiology	9321	TRIP11
HP:0011843	Abnormality of skeletal physiology	8318	CDC45
HP:0011843	Abnormality of skeletal physiology	9361	LONP1
HP:0011843	Abnormality of skeletal physiology	57492	ARID1B
HP:0011843	Abnormality of skeletal physiology	57592	ZNF687
HP:0011843	Abnormality of skeletal physiology	10516	FBLN5
HP:0011843	Abnormality of skeletal physiology	1536	CYBB
HP:0011843	Abnormality of skeletal physiology	7681	MKRN3
HP:0011843	Abnormality of skeletal physiology	6736	SRY
HP:0011843	Abnormality of skeletal physiology	10892	MALT1
HP:0011843	Abnormality of skeletal physiology	118429	ANTXR2
HP:0011843	Abnormality of skeletal physiology	2778	GNAS
HP:0011843	Abnormality of skeletal physiology	5932	RBBP8
HP:0011843	Abnormality of skeletal physiology	126792	B3GALT6
HP:0011843	Abnormality of skeletal physiology	56262	LRRC8A
HP:0011843	Abnormality of skeletal physiology	2006	ELN
HP:0011843	Abnormality of skeletal physiology	23522	KAT6B
HP:0011843	Abnormality of skeletal physiology	51199	NIN
HP:0011138	Abnormality of skin adnexa morphology	112752	IFT43
HP:0011138	Abnormality of skin adnexa morphology	8318	CDC45
HP:0011138	Abnormality of skin adnexa morphology	57492	ARID1B
HP:0011138	Abnormality of skin adnexa morphology	2254	FGF9
HP:0011138	Abnormality of skin adnexa morphology	10617	STAMBP
HP:0011138	Abnormality of skin adnexa morphology	10682	EBP
HP:0011138	Abnormality of skin adnexa morphology	6736	SRY
HP:0011138	Abnormality of skin adnexa morphology	613	BCR
HP:0011138	Abnormality of skin adnexa morphology	6768	ST14
HP:0011138	Abnormality of skin adnexa morphology	2778	GNAS
HP:0011138	Abnormality of skin adnexa morphology	2799	GNS
HP:0011138	Abnormality of skin adnexa morphology	9150	CTDP1
HP:0011138	Abnormality of skin adnexa morphology	23522	KAT6B
HP:0011138	Abnormality of skin adnexa morphology	5119	CHMP1A
HP:0011138	Abnormality of skin adnexa morphology	1123	CHN1
HP:0011138	Abnormality of skin adnexa morphology	1130	LYST
HP:0011138	Abnormality of skin adnexa morphology	3242	HPD
HP:0011138	Abnormality of skin adnexa morphology	3257	HPS1
HP:0011138	Abnormality of skin adnexa morphology	25913	POT1
HP:0011138	Abnormality of skin adnexa morphology	7486	WRN
HP:0011138	Abnormality of skin adnexa morphology	7546	ZIC2
HP:0011138	Abnormality of skin adnexa morphology	5506	PPP1R3A
HP:0011138	Abnormality of skin adnexa morphology	9652	TTC37
HP:0011138	Abnormality of skin adnexa morphology	3561	IL2RG
HP:0011138	Abnormality of skin adnexa morphology	7681	MKRN3
HP:0011138	Abnormality of skin adnexa morphology	343637	RSPO4
HP:0011138	Abnormality of skin adnexa morphology	118429	ANTXR2
HP:0011138	Abnormality of skin adnexa morphology	83696	TRAPPC9
HP:0011138	Abnormality of skin adnexa morphology	79600	TCTN1
HP:0011138	Abnormality of skin adnexa morphology	5932	RBBP8
HP:0011138	Abnormality of skin adnexa morphology	126792	B3GALT6
HP:0011138	Abnormality of skin adnexa morphology	10084	PQBP1
HP:0011138	Abnormality of skin adnexa morphology	79719	AAGAB
HP:0011138	Abnormality of skin adnexa morphology	1908	EDN3
HP:0011138	Abnormality of skin adnexa morphology	1909	EDNRA
HP:0011138	Abnormality of skin adnexa morphology	1954	MEGF8
HP:0011138	Abnormality of skin adnexa morphology	79813	EHMT1
HP:0011138	Abnormality of skin adnexa morphology	2006	ELN
HP:0025276	Abnormality of skin adnexa physiology	1908	EDN3
HP:0025276	Abnormality of skin adnexa physiology	10892	MALT1
HP:0011121	Abnormality of skin morphology	112752	IFT43
HP:0011121	Abnormality of skin morphology	10370	CITED2
HP:0011121	Abnormality of skin morphology	2189	FANCG
HP:0011121	Abnormality of skin morphology	57492	ARID1B
HP:0011121	Abnormality of skin morphology	6295	SAG
HP:0011121	Abnormality of skin morphology	2254	FGF9
HP:0011121	Abnormality of skin morphology	57609	DIP2B
HP:0011121	Abnormality of skin morphology	4361	MRE11
HP:0011121	Abnormality of skin morphology	10516	FBLN5
HP:0011121	Abnormality of skin morphology	22852	ANKRD26
HP:0011121	Abnormality of skin morphology	57697	FANCM
HP:0011121	Abnormality of skin morphology	10599	SLCO1B1
HP:0011121	Abnormality of skin morphology	4488	MSX2
HP:0011121	Abnormality of skin morphology	80270	HSD3B7
HP:0011121	Abnormality of skin morphology	6575	SLC20A2
HP:0011121	Abnormality of skin morphology	10682	EBP
HP:0011121	Abnormality of skin morphology	4607	MYBPC3
HP:0011121	Abnormality of skin morphology	2566	GABRG2
HP:0011121	Abnormality of skin morphology	6768	ST14
HP:0011121	Abnormality of skin morphology	2778	GNAS
HP:0011121	Abnormality of skin morphology	64218	SEMA4A
HP:0011121	Abnormality of skin morphology	6899	TBX1
HP:0011121	Abnormality of skin morphology	811	CALR
HP:0011121	Abnormality of skin morphology	2934	GSN
HP:0011121	Abnormality of skin morphology	56246	MRAP
HP:0011121	Abnormality of skin morphology	9184	BUB3
HP:0011121	Abnormality of skin morphology	23522	KAT6B
HP:0011121	Abnormality of skin morphology	23534	TNPO3
HP:0011121	Abnormality of skin morphology	5148	PDE6G
HP:0011121	Abnormality of skin morphology	5156	PDGFRA
HP:0011121	Abnormality of skin morphology	1123	CHN1
HP:0011121	Abnormality of skin morphology	1130	LYST
HP:0011121	Abnormality of skin morphology	3257	HPS1
HP:0011121	Abnormality of skin morphology	9526	MPDU1
HP:0011121	Abnormality of skin morphology	25913	POT1
HP:0011121	Abnormality of skin morphology	7486	WRN
HP:0011121	Abnormality of skin morphology	25939	SAMHD1
HP:0011121	Abnormality of skin morphology	5506	PPP1R3A
HP:0011121	Abnormality of skin morphology	9652	TTC37
HP:0011121	Abnormality of skin morphology	3561	IL2RG
HP:0011121	Abnormality of skin morphology	1536	CYBB
HP:0011121	Abnormality of skin morphology	7681	MKRN3
HP:0011121	Abnormality of skin morphology	118429	ANTXR2
HP:0011121	Abnormality of skin morphology	7957	EPM2A
HP:0011121	Abnormality of skin morphology	5932	RBBP8
HP:0011121	Abnormality of skin morphology	126792	B3GALT6
HP:0011121	Abnormality of skin morphology	57167	SALL4
HP:0011121	Abnormality of skin morphology	79719	AAGAB
HP:0011121	Abnormality of skin morphology	3949	LDLR
HP:0011121	Abnormality of skin morphology	1908	EDN3
HP:0011121	Abnormality of skin morphology	1909	EDNRA
HP:0011121	Abnormality of skin morphology	346007	EYS
HP:0011121	Abnormality of skin morphology	1954	MEGF8
HP:0011121	Abnormality of skin morphology	4023	LPL
HP:0011121	Abnormality of skin morphology	79813	EHMT1
HP:0011121	Abnormality of skin morphology	2006	ELN
HP:0011122	Abnormality of skin physiology	1536	CYBB
HP:0011122	Abnormality of skin physiology	5156	PDGFRA
HP:0011122	Abnormality of skin physiology	4645	MYO5B
HP:0011122	Abnormality of skin physiology	1130	LYST
HP:0011122	Abnormality of skin physiology	57492	ARID1B
HP:0011122	Abnormality of skin physiology	4261	CIITA
HP:0011122	Abnormality of skin physiology	6899	TBX1
HP:0011122	Abnormality of skin physiology	9526	MPDU1
HP:0011122	Abnormality of skin physiology	3426	CFI
HP:0011122	Abnormality of skin physiology	80270	HSD3B7
HP:0011122	Abnormality of skin physiology	10682	EBP
HP:0011122	Abnormality of skin physiology	56262	LRRC8A
HP:0011122	Abnormality of skin physiology	7128	TNFAIP3
HP:0011122	Abnormality of skin physiology	3561	IL2RG
HP:0011122	Abnormality of skin physiology	23534	TNPO3
HP:0001000	Abnormality of skin pigmentation	1536	CYBB
HP:0001000	Abnormality of skin pigmentation	7681	MKRN3
HP:0001000	Abnormality of skin pigmentation	5156	PDGFRA
HP:0001000	Abnormality of skin pigmentation	1123	CHN1
HP:0001000	Abnormality of skin pigmentation	1130	LYST
HP:0001000	Abnormality of skin pigmentation	2189	FANCG
HP:0001000	Abnormality of skin pigmentation	118429	ANTXR2
HP:0001000	Abnormality of skin pigmentation	3257	HPS1
HP:0001000	Abnormality of skin pigmentation	2778	GNAS
HP:0001000	Abnormality of skin pigmentation	64218	SEMA4A
HP:0001000	Abnormality of skin pigmentation	6899	TBX1
HP:0001000	Abnormality of skin pigmentation	25913	POT1
HP:0001000	Abnormality of skin pigmentation	126792	B3GALT6
HP:0001000	Abnormality of skin pigmentation	57697	FANCM
HP:0001000	Abnormality of skin pigmentation	10599	SLCO1B1
HP:0001000	Abnormality of skin pigmentation	1908	EDN3
HP:0001000	Abnormality of skin pigmentation	56246	MRAP
HP:0001000	Abnormality of skin pigmentation	9184	BUB3
HP:0001000	Abnormality of skin pigmentation	23522	KAT6B
HP:0001000	Abnormality of skin pigmentation	23534	TNPO3
HP:0002703	Abnormality of skull ossification	9321	TRIP11
HP:0000240	Abnormality of skull size	10300	KATNB1
HP:0000240	Abnormality of skull size	112752	IFT43
HP:0000240	Abnormality of skull size	8318	CDC45
HP:0000240	Abnormality of skull size	2189	FANCG
HP:0000240	Abnormality of skull size	57492	ARID1B
HP:0000240	Abnormality of skull size	6305	SBF1
HP:0000240	Abnormality of skull size	10516	FBLN5
HP:0000240	Abnormality of skull size	6496	SIX3
HP:0000240	Abnormality of skull size	57697	FANCM
HP:0000240	Abnormality of skull size	10617	STAMBP
HP:0000240	Abnormality of skull size	4488	MSX2
HP:0000240	Abnormality of skull size	6575	SLC20A2
HP:0000240	Abnormality of skull size	51660	MPC1
HP:0000240	Abnormality of skull size	113179	ADAT3
HP:0000240	Abnormality of skull size	613	BCR
HP:0000240	Abnormality of skull size	4729	NDUFV2
HP:0000240	Abnormality of skull size	2683	B4GALT1
HP:0000240	Abnormality of skull size	2778	GNAS
HP:0000240	Abnormality of skull size	6899	TBX1
HP:0000240	Abnormality of skull size	283489	CHAMP1
HP:0000240	Abnormality of skull size	9184	BUB3
HP:0000240	Abnormality of skull size	23522	KAT6B
HP:0000240	Abnormality of skull size	5119	CHMP1A
HP:0000240	Abnormality of skull size	1123	CHN1
HP:0000240	Abnormality of skull size	9321	TRIP11
HP:0000240	Abnormality of skull size	60528	ELAC2
HP:0000240	Abnormality of skull size	9526	MPDU1
HP:0000240	Abnormality of skull size	25939	SAMHD1
HP:0000240	Abnormality of skull size	100128927	ZBTB42
HP:0000240	Abnormality of skull size	7546	ZIC2
HP:0000240	Abnormality of skull size	54820	NDE1
HP:0000240	Abnormality of skull size	1605	DAG1
HP:0000240	Abnormality of skull size	5723	PSPH
HP:0000240	Abnormality of skull size	118429	ANTXR2
HP:0000240	Abnormality of skull size	3798	KIF5A
HP:0000240	Abnormality of skull size	83696	TRAPPC9
HP:0000240	Abnormality of skull size	83737	ITCH
HP:0000240	Abnormality of skull size	5932	RBBP8
HP:0000240	Abnormality of skull size	126792	B3GALT6
HP:0000240	Abnormality of skull size	10084	PQBP1
HP:0000240	Abnormality of skull size	1917	EEF1A2
HP:0000240	Abnormality of skull size	55180	LINS1
HP:0000240	Abnormality of skull size	79813	EHMT1
HP:0000240	Abnormality of skull size	2006	ELN
HP:0000240	Abnormality of skull size	51199	NIN
HP:0011472	Abnormality of small intestinal villus morphology	4261	CIITA
HP:0011472	Abnormality of small intestinal villus morphology	4645	MYO5B
HP:0011472	Abnormality of small intestinal villus morphology	9652	TTC37
HP:0001001	Abnormality of subcutaneous fat tissue	5506	PPP1R3A
HP:0004339	Abnormality of sulfur amino acid metabolism	9652	TTC37
HP:0004358	Abnormality of superoxide metabolism	1536	CYBB
HP:0004370	Abnormality of temperature regulation	1536	CYBB
HP:0004370	Abnormality of temperature regulation	7681	MKRN3
HP:0004370	Abnormality of temperature regulation	613	BCR
HP:0004370	Abnormality of temperature regulation	1130	LYST
HP:0004370	Abnormality of temperature regulation	10892	MALT1
HP:0004370	Abnormality of temperature regulation	83696	TRAPPC9
HP:0004370	Abnormality of temperature regulation	3394	IRF8
HP:0004370	Abnormality of temperature regulation	10599	SLCO1B1
HP:0004370	Abnormality of temperature regulation	1908	EDN3
HP:0004370	Abnormality of temperature regulation	56262	LRRC8A
HP:0004370	Abnormality of temperature regulation	7128	TNFAIP3
HP:0004370	Abnormality of temperature regulation	3561	IL2RG
HP:0010009	Abnormality of the 1st metacarpal	57167	SALL4
HP:0010009	Abnormality of the 1st metacarpal	2778	GNAS
HP:0010011	Abnormality of the 3rd metacarpal	2778	GNAS
HP:0010012	Abnormality of the 4th metacarpal	6736	SRY
HP:0010012	Abnormality of the 4th metacarpal	2778	GNAS
HP:0004207	Abnormality of the 5th finger	9775	EIF4A3
HP:0004207	Abnormality of the 5th finger	613	BCR
HP:0004207	Abnormality of the 5th finger	112752	IFT43
HP:0004207	Abnormality of the 5th finger	8318	CDC45
HP:0004207	Abnormality of the 5th finger	10370	CITED2
HP:0004207	Abnormality of the 5th finger	2189	FANCG
HP:0004207	Abnormality of the 5th finger	57492	ARID1B
HP:0004207	Abnormality of the 5th finger	83696	TRAPPC9
HP:0004207	Abnormality of the 5th finger	6899	TBX1
HP:0004207	Abnormality of the 5th finger	5932	RBBP8
HP:0004207	Abnormality of the 5th finger	57697	FANCM
HP:0004207	Abnormality of the 5th finger	10084	PQBP1
HP:0004207	Abnormality of the 5th finger	1954	MEGF8
HP:0004207	Abnormality of the 5th finger	10682	EBP
HP:0004207	Abnormality of the 5th finger	2006	ELN
HP:0004207	Abnormality of the 5th finger	9184	BUB3
HP:0004207	Abnormality of the 5th finger	23522	KAT6B
HP:0010013	Abnormality of the 5th metacarpal	2778	GNAS
HP:0010322	Abnormality of the 5th toe	57492	ARID1B
HP:0010322	Abnormality of the 5th toe	6049	RNF6
HP:0010991	Abnormality of the abdominal musculature	23522	KAT6B
HP:0002012	Abnormality of the abdominal organs	112752	IFT43
HP:0002012	Abnormality of the abdominal organs	2189	FANCG
HP:0002012	Abnormality of the abdominal organs	4261	CIITA
HP:0002012	Abnormality of the abdominal organs	55532	SLC30A10
HP:0002012	Abnormality of the abdominal organs	4361	MRE11
HP:0002012	Abnormality of the abdominal organs	57697	FANCM
HP:0002012	Abnormality of the abdominal organs	10599	SLCO1B1
HP:0002012	Abnormality of the abdominal organs	80270	HSD3B7
HP:0002012	Abnormality of the abdominal organs	410	ARSA
HP:0002012	Abnormality of the abdominal organs	6575	SLC20A2
HP:0002012	Abnormality of the abdominal organs	445	ASS1
HP:0002012	Abnormality of the abdominal organs	51660	MPC1
HP:0002012	Abnormality of the abdominal organs	4594	MUT
HP:0002012	Abnormality of the abdominal organs	613	BCR
HP:0002012	Abnormality of the abdominal organs	2778	GNAS
HP:0002012	Abnormality of the abdominal organs	2799	GNS
HP:0002012	Abnormality of the abdominal organs	6899	TBX1
HP:0002012	Abnormality of the abdominal organs	811	CALR
HP:0002012	Abnormality of the abdominal organs	7018	TF
HP:0002012	Abnormality of the abdominal organs	56262	LRRC8A
HP:0002012	Abnormality of the abdominal organs	23522	KAT6B
HP:0002012	Abnormality of the abdominal organs	23534	TNPO3
HP:0002012	Abnormality of the abdominal organs	5156	PDGFRA
HP:0002012	Abnormality of the abdominal organs	1130	LYST
HP:0002012	Abnormality of the abdominal organs	9361	LONP1
HP:0002012	Abnormality of the abdominal organs	3242	HPD
HP:0002012	Abnormality of the abdominal organs	25913	POT1
HP:0002012	Abnormality of the abdominal organs	5506	PPP1R3A
HP:0002012	Abnormality of the abdominal organs	9652	TTC37
HP:0002012	Abnormality of the abdominal organs	3561	IL2RG
HP:0002012	Abnormality of the abdominal organs	1536	CYBB
HP:0002012	Abnormality of the abdominal organs	56922	MCCC1
HP:0002012	Abnormality of the abdominal organs	83737	ITCH
HP:0002012	Abnormality of the abdominal organs	79719	AAGAB
HP:0002012	Abnormality of the abdominal organs	3949	LDLR
HP:0002012	Abnormality of the abdominal organs	1954	MEGF8
HP:0002012	Abnormality of the abdominal organs	4023	LPL
HP:0002012	Abnormality of the abdominal organs	51128	SAR1B
HP:0002012	Abnormality of the abdominal organs	2006	ELN
HP:0004298	Abnormality of the abdominal wall	613	BCR
HP:0004298	Abnormality of the abdominal wall	9321	TRIP11
HP:0004298	Abnormality of the abdominal wall	2189	FANCG
HP:0004298	Abnormality of the abdominal wall	9361	LONP1
HP:0004298	Abnormality of the abdominal wall	57492	ARID1B
HP:0004298	Abnormality of the abdominal wall	6899	TBX1
HP:0004298	Abnormality of the abdominal wall	10516	FBLN5
HP:0004298	Abnormality of the abdominal wall	57697	FANCM
HP:0004298	Abnormality of the abdominal wall	1954	MEGF8
HP:0004298	Abnormality of the abdominal wall	79813	EHMT1
HP:0004298	Abnormality of the abdominal wall	2006	ELN
HP:0004298	Abnormality of the abdominal wall	23522	KAT6B
HP:0003170	Abnormality of the acetabulum	9775	EIF4A3
HP:0000834	Abnormality of the adrenal glands	7681	MKRN3
HP:0000834	Abnormality of the adrenal glands	8452	CUL3
HP:0000834	Abnormality of the adrenal glands	6736	SRY
HP:0000834	Abnormality of the adrenal glands	6496	SIX3
HP:0000834	Abnormality of the adrenal glands	118429	ANTXR2
HP:0000834	Abnormality of the adrenal glands	56246	MRAP
HP:0000834	Abnormality of the adrenal glands	2778	GNAS
HP:0001560	Abnormality of the amniotic fluid	9321	TRIP11
HP:0001560	Abnormality of the amniotic fluid	2189	FANCG
HP:0001560	Abnormality of the amniotic fluid	9361	LONP1
HP:0001560	Abnormality of the amniotic fluid	6899	TBX1
HP:0001560	Abnormality of the amniotic fluid	10516	FBLN5
HP:0001560	Abnormality of the amniotic fluid	64321	SOX17
HP:0001560	Abnormality of the amniotic fluid	8516	ITGA8
HP:0001560	Abnormality of the amniotic fluid	57697	FANCM
HP:0001560	Abnormality of the amniotic fluid	9652	TTC37
HP:0001560	Abnormality of the amniotic fluid	10682	EBP
HP:0001560	Abnormality of the amniotic fluid	9184	BUB3
HP:0001560	Abnormality of the amniotic fluid	23522	KAT6B
HP:0003028	Abnormality of the ankles	1605	DAG1
HP:0003028	Abnormality of the ankles	80208	SPG11
HP:0003028	Abnormality of the ankles	2006	ELN
HP:0003028	Abnormality of the ankles	3798	KIF5A
HP:0003028	Abnormality of the ankles	5119	CHMP1A
HP:0000236	Abnormality of the anterior fontanelle	8318	CDC45
HP:0011747	Abnormality of the anterior pituitary	7681	MKRN3
HP:0011747	Abnormality of the anterior pituitary	6736	SRY
HP:0011747	Abnormality of the anterior pituitary	2778	GNAS
HP:0011747	Abnormality of the anterior pituitary	6496	SIX3
HP:0004328	Abnormality of the anterior segment of the globe	2189	FANCG
HP:0004328	Abnormality of the anterior segment of the globe	57492	ARID1B
HP:0004328	Abnormality of the anterior segment of the globe	6295	SAG
HP:0004328	Abnormality of the anterior segment of the globe	10518	CIB2
HP:0004328	Abnormality of the anterior segment of the globe	57697	FANCM
HP:0004328	Abnormality of the anterior segment of the globe	6575	SLC20A2
HP:0004328	Abnormality of the anterior segment of the globe	10682	EBP
HP:0004328	Abnormality of the anterior segment of the globe	2778	GNAS
HP:0004328	Abnormality of the anterior segment of the globe	64218	SEMA4A
HP:0004328	Abnormality of the anterior segment of the globe	6899	TBX1
HP:0004328	Abnormality of the anterior segment of the globe	2934	GSN
HP:0004328	Abnormality of the anterior segment of the globe	9150	CTDP1
HP:0004328	Abnormality of the anterior segment of the globe	9184	BUB3
HP:0004328	Abnormality of the anterior segment of the globe	5119	CHMP1A
HP:0004328	Abnormality of the anterior segment of the globe	5130	PCYT1A
HP:0004328	Abnormality of the anterior segment of the globe	5148	PDE6G
HP:0004328	Abnormality of the anterior segment of the globe	1123	CHN1
HP:0004328	Abnormality of the anterior segment of the globe	1130	LYST
HP:0004328	Abnormality of the anterior segment of the globe	9361	LONP1
HP:0004328	Abnormality of the anterior segment of the globe	3257	HPS1
HP:0004328	Abnormality of the anterior segment of the globe	7486	WRN
HP:0004328	Abnormality of the anterior segment of the globe	30062	RAX
HP:0004328	Abnormality of the anterior segment of the globe	1414	CRYBB1
HP:0004328	Abnormality of the anterior segment of the globe	1421	CRYGD
HP:0004328	Abnormality of the anterior segment of the globe	7681	MKRN3
HP:0004328	Abnormality of the anterior segment of the globe	1605	DAG1
HP:0004328	Abnormality of the anterior segment of the globe	124590	USH1G
HP:0004328	Abnormality of the anterior segment of the globe	79600	TCTN1
HP:0004328	Abnormality of the anterior segment of the globe	126792	B3GALT6
HP:0004328	Abnormality of the anterior segment of the globe	57167	SALL4
HP:0004328	Abnormality of the anterior segment of the globe	10084	PQBP1
HP:0004328	Abnormality of the anterior segment of the globe	3949	LDLR
HP:0004328	Abnormality of the anterior segment of the globe	1908	EDN3
HP:0004328	Abnormality of the anterior segment of the globe	346007	EYS
HP:0004328	Abnormality of the anterior segment of the globe	1954	MEGF8
HP:0004328	Abnormality of the anterior segment of the globe	4047	LSS
HP:0004328	Abnormality of the anterior segment of the globe	2006	ELN
HP:0009738	Abnormality of the antihelix	23522	KAT6B
HP:0004378	Abnormality of the anus	57167	SALL4
HP:0004378	Abnormality of the anus	57697	FANCM
HP:0004378	Abnormality of the anus	10084	PQBP1
HP:0004378	Abnormality of the anus	8318	CDC45
HP:0004378	Abnormality of the anus	2189	FANCG
HP:0004378	Abnormality of the anus	9361	LONP1
HP:0004378	Abnormality of the anus	6899	TBX1
HP:0008744	Abnormality of the aryepiglottic fold	9775	EIF4A3
HP:0000372	Abnormality of the auditory canal	57167	SALL4
HP:0000372	Abnormality of the auditory canal	1123	CHN1
HP:0000372	Abnormality of the auditory canal	1909	EDNRA
HP:0000372	Abnormality of the auditory canal	8318	CDC45
HP:0002270	Abnormality of the autonomic nervous system	126792	B3GALT6
HP:0002270	Abnormality of the autonomic nervous system	57167	SALL4
HP:0002270	Abnormality of the autonomic nervous system	57697	FANCM
HP:0002270	Abnormality of the autonomic nervous system	1908	EDN3
HP:0002270	Abnormality of the autonomic nervous system	2189	FANCG
HP:0002270	Abnormality of the autonomic nervous system	23534	TNPO3
HP:0002270	Abnormality of the autonomic nervous system	79600	TCTN1
HP:0002270	Abnormality of the autonomic nervous system	6899	TBX1
HP:0100134	Abnormality of the axillary hair	6736	SRY
HP:0002134	Abnormality of the basal ganglia	9997	SCO2
HP:0002134	Abnormality of the basal ganglia	7443	VRK1
HP:0002134	Abnormality of the basal ganglia	6575	SLC20A2
HP:0002134	Abnormality of the basal ganglia	25939	SAMHD1
HP:0002134	Abnormality of the basal ganglia	2778	GNAS
HP:0002134	Abnormality of the basal ganglia	4594	MUT
HP:0004297	Abnormality of the biliary system	1130	LYST
HP:0004297	Abnormality of the biliary system	9361	LONP1
HP:0004297	Abnormality of the biliary system	4261	CIITA
HP:0004297	Abnormality of the biliary system	6899	TBX1
HP:0004297	Abnormality of the biliary system	10599	SLCO1B1
HP:0004297	Abnormality of the biliary system	80270	HSD3B7
HP:0004297	Abnormality of the biliary system	410	ARSA
HP:0004297	Abnormality of the biliary system	9652	TTC37
HP:0004297	Abnormality of the biliary system	4023	LPL
HP:0004297	Abnormality of the biliary system	2006	ELN
HP:0004297	Abnormality of the biliary system	23534	TNPO3
HP:0000014	Abnormality of the bladder	6687	SPG7
HP:0000014	Abnormality of the bladder	8318	CDC45
HP:0000014	Abnormality of the bladder	6305	SBF1
HP:0000014	Abnormality of the bladder	8913	CACNA1G
HP:0000014	Abnormality of the bladder	3798	KIF5A
HP:0000014	Abnormality of the bladder	6899	TBX1
HP:0000014	Abnormality of the bladder	10516	FBLN5
HP:0000014	Abnormality of the bladder	64321	SOX17
HP:0000014	Abnormality of the bladder	57167	SALL4
HP:0000014	Abnormality of the bladder	80208	SPG11
HP:0000014	Abnormality of the bladder	10617	STAMBP
HP:0000014	Abnormality of the bladder	410	ARSA
HP:0000014	Abnormality of the bladder	6575	SLC20A2
HP:0000014	Abnormality of the bladder	79813	EHMT1
HP:0000014	Abnormality of the bladder	2006	ELN
HP:0000769	Abnormality of the breast	6736	SRY
HP:0000769	Abnormality of the breast	7251	TSG101
HP:0000769	Abnormality of the breast	8318	CDC45
HP:0000769	Abnormality of the breast	57492	ARID1B
HP:0000769	Abnormality of the breast	2778	GNAS
HP:0000769	Abnormality of the breast	4361	MRE11
HP:0000769	Abnormality of the breast	25913	POT1
HP:0000769	Abnormality of the breast	7486	WRN
HP:0000769	Abnormality of the breast	79719	AAGAB
HP:0000769	Abnormality of the breast	1954	MEGF8
HP:0000769	Abnormality of the breast	23522	KAT6B
HP:0002109	Abnormality of the bronchi	79813	EHMT1
HP:0002109	Abnormality of the bronchi	56262	LRRC8A
HP:0002109	Abnormality of the bronchi	3561	IL2RG
HP:0002981	Abnormality of the calf	5130	PCYT1A
HP:0002981	Abnormality of the calf	9775	EIF4A3
HP:0002981	Abnormality of the calf	126792	B3GALT6
HP:0002981	Abnormality of the calf	8318	CDC45
HP:0002981	Abnormality of the calf	9361	LONP1
HP:0002981	Abnormality of the calf	1954	MEGF8
HP:0002981	Abnormality of the calf	2006	ELN
HP:0001430	Abnormality of the calf musculature	6443	SGCB
HP:0002683	Abnormality of the calvaria	1123	CHN1
HP:0002683	Abnormality of the calvaria	9321	TRIP11
HP:0002683	Abnormality of the calvaria	112752	IFT43
HP:0002683	Abnormality of the calvaria	8318	CDC45
HP:0002683	Abnormality of the calvaria	10370	CITED2
HP:0002683	Abnormality of the calvaria	2189	FANCG
HP:0002683	Abnormality of the calvaria	9361	LONP1
HP:0002683	Abnormality of the calvaria	57492	ARID1B
HP:0002683	Abnormality of the calvaria	10516	FBLN5
HP:0002683	Abnormality of the calvaria	25939	SAMHD1
HP:0002683	Abnormality of the calvaria	57697	FANCM
HP:0002683	Abnormality of the calvaria	7546	ZIC2
HP:0002683	Abnormality of the calvaria	4488	MSX2
HP:0002683	Abnormality of the calvaria	9652	TTC37
HP:0002683	Abnormality of the calvaria	10682	EBP
HP:0002683	Abnormality of the calvaria	7681	MKRN3
HP:0002683	Abnormality of the calvaria	6660	SOX5
HP:0002683	Abnormality of the calvaria	2778	GNAS
HP:0002683	Abnormality of the calvaria	2799	GNS
HP:0002683	Abnormality of the calvaria	83696	TRAPPC9
HP:0002683	Abnormality of the calvaria	79600	TCTN1
HP:0002683	Abnormality of the calvaria	6899	TBX1
HP:0002683	Abnormality of the calvaria	83737	ITCH
HP:0002683	Abnormality of the calvaria	5932	RBBP8
HP:0002683	Abnormality of the calvaria	10084	PQBP1
HP:0002683	Abnormality of the calvaria	1954	MEGF8
HP:0002683	Abnormality of the calvaria	79813	EHMT1
HP:0002683	Abnormality of the calvaria	9184	BUB3
HP:0002683	Abnormality of the calvaria	23522	KAT6B
HP:0001626	Abnormality of the cardiovascular system	8318	CDC45
HP:0001626	Abnormality of the cardiovascular system	57492	ARID1B
HP:0001626	Abnormality of the cardiovascular system	57592	ZNF687
HP:0001626	Abnormality of the cardiovascular system	8452	CUL3
HP:0001626	Abnormality of the cardiovascular system	4361	MRE11
HP:0001626	Abnormality of the cardiovascular system	8516	ITGA8
HP:0001626	Abnormality of the cardiovascular system	57697	FANCM
HP:0001626	Abnormality of the cardiovascular system	445	ASS1
HP:0001626	Abnormality of the cardiovascular system	4594	MUT
HP:0001626	Abnormality of the cardiovascular system	4607	MYBPC3
HP:0001626	Abnormality of the cardiovascular system	4645	MYO5B
HP:0001626	Abnormality of the cardiovascular system	613	BCR
HP:0001626	Abnormality of the cardiovascular system	4729	NDUFV2
HP:0001626	Abnormality of the cardiovascular system	781	CACNA2D1
HP:0001626	Abnormality of the cardiovascular system	811	CALR
HP:0001626	Abnormality of the cardiovascular system	9184	BUB3
HP:0001626	Abnormality of the cardiovascular system	5148	PDE6G
HP:0001626	Abnormality of the cardiovascular system	5156	PDGFRA
HP:0001626	Abnormality of the cardiovascular system	1123	CHN1
HP:0001626	Abnormality of the cardiovascular system	9321	TRIP11
HP:0001626	Abnormality of the cardiovascular system	1130	LYST
HP:0001626	Abnormality of the cardiovascular system	78987	CRELD1
HP:0001626	Abnormality of the cardiovascular system	9361	LONP1
HP:0001626	Abnormality of the cardiovascular system	79188	TMEM43
HP:0001626	Abnormality of the cardiovascular system	5506	PPP1R3A
HP:0001626	Abnormality of the cardiovascular system	9652	TTC37
HP:0001626	Abnormality of the cardiovascular system	5740	PTGIS
HP:0001626	Abnormality of the cardiovascular system	79600	TCTN1
HP:0001626	Abnormality of the cardiovascular system	9992	KCNE2
HP:0001626	Abnormality of the cardiovascular system	9997	SCO2
HP:0001626	Abnormality of the cardiovascular system	5932	RBBP8
HP:0001626	Abnormality of the cardiovascular system	1837	DTNA
HP:0001626	Abnormality of the cardiovascular system	10084	PQBP1
HP:0001626	Abnormality of the cardiovascular system	1908	EDN3
HP:0001626	Abnormality of the cardiovascular system	1909	EDNRA
HP:0001626	Abnormality of the cardiovascular system	346007	EYS
HP:0001626	Abnormality of the cardiovascular system	1954	MEGF8
HP:0001626	Abnormality of the cardiovascular system	79813	EHMT1
HP:0001626	Abnormality of the cardiovascular system	2006	ELN
HP:0001626	Abnormality of the cardiovascular system	112752	IFT43
HP:0001626	Abnormality of the cardiovascular system	10370	CITED2
HP:0001626	Abnormality of the cardiovascular system	2189	FANCG
HP:0001626	Abnormality of the cardiovascular system	6295	SAG
HP:0001626	Abnormality of the cardiovascular system	10516	FBLN5
HP:0001626	Abnormality of the cardiovascular system	6443	SGCB
HP:0001626	Abnormality of the cardiovascular system	22852	ANKRD26
HP:0001626	Abnormality of the cardiovascular system	10617	STAMBP
HP:0001626	Abnormality of the cardiovascular system	80270	HSD3B7
HP:0001626	Abnormality of the cardiovascular system	6575	SLC20A2
HP:0001626	Abnormality of the cardiovascular system	10682	EBP
HP:0001626	Abnormality of the cardiovascular system	6660	SOX5
HP:0001626	Abnormality of the cardiovascular system	6736	SRY
HP:0001626	Abnormality of the cardiovascular system	2778	GNAS
HP:0001626	Abnormality of the cardiovascular system	64218	SEMA4A
HP:0001626	Abnormality of the cardiovascular system	2799	GNS
HP:0001626	Abnormality of the cardiovascular system	6899	TBX1
HP:0001626	Abnormality of the cardiovascular system	23394	ADNP
HP:0001626	Abnormality of the cardiovascular system	7018	TF
HP:0001626	Abnormality of the cardiovascular system	2934	GSN
HP:0001626	Abnormality of the cardiovascular system	23417	MLYCD
HP:0001626	Abnormality of the cardiovascular system	56262	LRRC8A
HP:0001626	Abnormality of the cardiovascular system	23522	KAT6B
HP:0001626	Abnormality of the cardiovascular system	23534	TNPO3
HP:0001626	Abnormality of the cardiovascular system	60528	ELAC2
HP:0001626	Abnormality of the cardiovascular system	3257	HPS1
HP:0001626	Abnormality of the cardiovascular system	7486	WRN
HP:0001626	Abnormality of the cardiovascular system	3426	CFI
HP:0001626	Abnormality of the cardiovascular system	56922	MCCC1
HP:0001626	Abnormality of the cardiovascular system	118429	ANTXR2
HP:0001626	Abnormality of the cardiovascular system	3908	LAMA2
HP:0001626	Abnormality of the cardiovascular system	126792	B3GALT6
HP:0001626	Abnormality of the cardiovascular system	57167	SALL4
HP:0001626	Abnormality of the cardiovascular system	3949	LDLR
HP:0001626	Abnormality of the cardiovascular system	4023	LPL
HP:0001626	Abnormality of the cardiovascular system	4091	SMAD6
HP:0001191	Abnormality of the carpal bones	9361	LONP1
HP:0001191	Abnormality of the carpal bones	10682	EBP
HP:0001191	Abnormality of the carpal bones	126792	B3GALT6
HP:0001191	Abnormality of the carpal bones	57167	SALL4
HP:0001191	Abnormality of the carpal bones	51199	NIN
HP:0002334	Abnormality of the cerebellar vermis	5130	PCYT1A
HP:0002334	Abnormality of the cerebellar vermis	1605	DAG1
HP:0002334	Abnormality of the cerebellar vermis	2683	B4GALT1
HP:0002334	Abnormality of the cerebellar vermis	57492	ARID1B
HP:0002334	Abnormality of the cerebellar vermis	10682	EBP
HP:0002334	Abnormality of the cerebellar vermis	8913	CACNA1G
HP:0002334	Abnormality of the cerebellar vermis	9184	BUB3
HP:0002334	Abnormality of the cerebellar vermis	83696	TRAPPC9
HP:0002334	Abnormality of the cerebellar vermis	79600	TCTN1
HP:0001317	Abnormality of the cerebellum	8318	CDC45
HP:0001317	Abnormality of the cerebellum	57492	ARID1B
HP:0001317	Abnormality of the cerebellum	4361	MRE11
HP:0001317	Abnormality of the cerebellum	10518	CIB2
HP:0001317	Abnormality of the cerebellum	80208	SPG11
HP:0001317	Abnormality of the cerebellum	6496	SIX3
HP:0001317	Abnormality of the cerebellum	410	ARSA
HP:0001317	Abnormality of the cerebellum	6575	SLC20A2
HP:0001317	Abnormality of the cerebellum	10682	EBP
HP:0001317	Abnormality of the cerebellum	445	ASS1
HP:0001317	Abnormality of the cerebellum	2566	GABRG2
HP:0001317	Abnormality of the cerebellum	6687	SPG7
HP:0001317	Abnormality of the cerebellum	4729	NDUFV2
HP:0001317	Abnormality of the cerebellum	2683	B4GALT1
HP:0001317	Abnormality of the cerebellum	8913	CACNA1G
HP:0001317	Abnormality of the cerebellum	283489	CHAMP1
HP:0001317	Abnormality of the cerebellum	9150	CTDP1
HP:0001317	Abnormality of the cerebellum	9184	BUB3
HP:0001317	Abnormality of the cerebellum	5119	CHMP1A
HP:0001317	Abnormality of the cerebellum	5130	PCYT1A
HP:0001317	Abnormality of the cerebellum	1130	LYST
HP:0001317	Abnormality of the cerebellum	5230	PGK1
HP:0001317	Abnormality of the cerebellum	1181	CLCN2
HP:0001317	Abnormality of the cerebellum	7443	VRK1
HP:0001317	Abnormality of the cerebellum	9526	MPDU1
HP:0001317	Abnormality of the cerebellum	54820	NDE1
HP:0001317	Abnormality of the cerebellum	1605	DAG1
HP:0001317	Abnormality of the cerebellum	124590	USH1G
HP:0001317	Abnormality of the cerebellum	3798	KIF5A
HP:0001317	Abnormality of the cerebellum	83696	TRAPPC9
HP:0001317	Abnormality of the cerebellum	79600	TCTN1
HP:0001317	Abnormality of the cerebellum	5932	RBBP8
HP:0001317	Abnormality of the cerebellum	3908	LAMA2
HP:0001317	Abnormality of the cerebellum	255928	SYT14
HP:0001317	Abnormality of the cerebellum	2006	ELN
HP:0002538	Abnormality of the cerebral cortex	54820	NDE1
HP:0002538	Abnormality of the cerebral cortex	10300	KATNB1
HP:0002538	Abnormality of the cerebral cortex	1605	DAG1
HP:0002538	Abnormality of the cerebral cortex	27286	SRPX2
HP:0002538	Abnormality of the cerebral cortex	79600	TCTN1
HP:0002538	Abnormality of the cerebral cortex	3908	LAMA2
HP:0002538	Abnormality of the cerebral cortex	23417	MLYCD
HP:0010993	Abnormality of the cerebral subcortex	10300	KATNB1
HP:0010993	Abnormality of the cerebral subcortex	9361	LONP1
HP:0010993	Abnormality of the cerebral subcortex	57492	ARID1B
HP:0010993	Abnormality of the cerebral subcortex	7443	VRK1
HP:0010993	Abnormality of the cerebral subcortex	80208	SPG11
HP:0010993	Abnormality of the cerebral subcortex	25939	SAMHD1
HP:0010993	Abnormality of the cerebral subcortex	6496	SIX3
HP:0010993	Abnormality of the cerebral subcortex	10617	STAMBP
HP:0010993	Abnormality of the cerebral subcortex	410	ARSA
HP:0010993	Abnormality of the cerebral subcortex	6575	SLC20A2
HP:0010993	Abnormality of the cerebral subcortex	4594	MUT
HP:0010993	Abnormality of the cerebral subcortex	54820	NDE1
HP:0010993	Abnormality of the cerebral subcortex	1605	DAG1
HP:0010993	Abnormality of the cerebral subcortex	2778	GNAS
HP:0010993	Abnormality of the cerebral subcortex	83696	TRAPPC9
HP:0010993	Abnormality of the cerebral subcortex	79600	TCTN1
HP:0010993	Abnormality of the cerebral subcortex	9997	SCO2
HP:0010993	Abnormality of the cerebral subcortex	3908	LAMA2
HP:0010993	Abnormality of the cerebral subcortex	79813	EHMT1
HP:0010993	Abnormality of the cerebral subcortex	9184	BUB3
HP:0010993	Abnormality of the cerebral subcortex	23522	KAT6B
HP:0010993	Abnormality of the cerebral subcortex	5119	CHMP1A
HP:0100659	Abnormality of the cerebral vasculature	56922	MCCC1
HP:0100659	Abnormality of the cerebral vasculature	811	CALR
HP:0100659	Abnormality of the cerebral vasculature	7486	WRN
HP:0100659	Abnormality of the cerebral vasculature	3949	LDLR
HP:0100659	Abnormality of the cerebral vasculature	6575	SLC20A2
HP:0100659	Abnormality of the cerebral vasculature	445	ASS1
HP:0100659	Abnormality of the cerebral vasculature	2006	ELN
HP:0100659	Abnormality of the cerebral vasculature	4594	MUT
HP:0002118	Abnormality of the cerebral ventricles	10300	KATNB1
HP:0002118	Abnormality of the cerebral ventricles	2189	FANCG
HP:0002118	Abnormality of the cerebral ventricles	57492	ARID1B
HP:0002118	Abnormality of the cerebral ventricles	80208	SPG11
HP:0002118	Abnormality of the cerebral ventricles	57697	FANCM
HP:0002118	Abnormality of the cerebral ventricles	7546	ZIC2
HP:0002118	Abnormality of the cerebral ventricles	6575	SLC20A2
HP:0002118	Abnormality of the cerebral ventricles	10682	EBP
HP:0002118	Abnormality of the cerebral ventricles	7681	MKRN3
HP:0002118	Abnormality of the cerebral ventricles	54820	NDE1
HP:0002118	Abnormality of the cerebral ventricles	1605	DAG1
HP:0002118	Abnormality of the cerebral ventricles	2683	B4GALT1
HP:0002118	Abnormality of the cerebral ventricles	2778	GNAS
HP:0002118	Abnormality of the cerebral ventricles	79600	TCTN1
HP:0002118	Abnormality of the cerebral ventricles	6899	TBX1
HP:0002118	Abnormality of the cerebral ventricles	9150	CTDP1
HP:0002118	Abnormality of the cerebral ventricles	79813	EHMT1
HP:0002118	Abnormality of the cerebral ventricles	9184	BUB3
HP:0002118	Abnormality of the cerebral ventricles	23522	KAT6B
HP:0002500	Abnormality of the cerebral white matter	10300	KATNB1
HP:0002500	Abnormality of the cerebral white matter	9361	LONP1
HP:0002500	Abnormality of the cerebral white matter	57492	ARID1B
HP:0002500	Abnormality of the cerebral white matter	80208	SPG11
HP:0002500	Abnormality of the cerebral white matter	25939	SAMHD1
HP:0002500	Abnormality of the cerebral white matter	6496	SIX3
HP:0002500	Abnormality of the cerebral white matter	10617	STAMBP
HP:0002500	Abnormality of the cerebral white matter	410	ARSA
HP:0002500	Abnormality of the cerebral white matter	54820	NDE1
HP:0002500	Abnormality of the cerebral white matter	1605	DAG1
HP:0002500	Abnormality of the cerebral white matter	83696	TRAPPC9
HP:0002500	Abnormality of the cerebral white matter	79600	TCTN1
HP:0002500	Abnormality of the cerebral white matter	3908	LAMA2
HP:0002500	Abnormality of the cerebral white matter	79813	EHMT1
HP:0002500	Abnormality of the cerebral white matter	9184	BUB3
HP:0002500	Abnormality of the cerebral white matter	23522	KAT6B
HP:0002500	Abnormality of the cerebral white matter	5119	CHMP1A
HP:0002921	Abnormality of the cerebrospinal fluid	1605	DAG1
HP:0002921	Abnormality of the cerebrospinal fluid	4729	NDUFV2
HP:0002921	Abnormality of the cerebrospinal fluid	2683	B4GALT1
HP:0002921	Abnormality of the cerebrospinal fluid	2189	FANCG
HP:0002921	Abnormality of the cerebrospinal fluid	79600	TCTN1
HP:0002921	Abnormality of the cerebrospinal fluid	6899	TBX1
HP:0002921	Abnormality of the cerebrospinal fluid	9997	SCO2
HP:0002921	Abnormality of the cerebrospinal fluid	25939	SAMHD1
HP:0002921	Abnormality of the cerebrospinal fluid	57697	FANCM
HP:0002921	Abnormality of the cerebrospinal fluid	7546	ZIC2
HP:0002921	Abnormality of the cerebrospinal fluid	410	ARSA
HP:0002921	Abnormality of the cerebrospinal fluid	10682	EBP
HP:0002060	Abnormality of the cerebrum	10300	KATNB1
HP:0002060	Abnormality of the cerebrum	8318	CDC45
HP:0002060	Abnormality of the cerebrum	2189	FANCG
HP:0002060	Abnormality of the cerebrum	57492	ARID1B
HP:0002060	Abnormality of the cerebrum	6305	SBF1
HP:0002060	Abnormality of the cerebrum	10516	FBLN5
HP:0002060	Abnormality of the cerebrum	10518	CIB2
HP:0002060	Abnormality of the cerebrum	80208	SPG11
HP:0002060	Abnormality of the cerebrum	6496	SIX3
HP:0002060	Abnormality of the cerebrum	57697	FANCM
HP:0002060	Abnormality of the cerebrum	10617	STAMBP
HP:0002060	Abnormality of the cerebrum	410	ARSA
HP:0002060	Abnormality of the cerebrum	6575	SLC20A2
HP:0002060	Abnormality of the cerebrum	445	ASS1
HP:0002060	Abnormality of the cerebrum	51660	MPC1
HP:0002060	Abnormality of the cerebrum	4594	MUT
HP:0002060	Abnormality of the cerebrum	113179	ADAT3
HP:0002060	Abnormality of the cerebrum	6687	SPG7
HP:0002060	Abnormality of the cerebrum	613	BCR
HP:0002060	Abnormality of the cerebrum	4729	NDUFV2
HP:0002060	Abnormality of the cerebrum	27286	SRPX2
HP:0002060	Abnormality of the cerebrum	2778	GNAS
HP:0002060	Abnormality of the cerebrum	6899	TBX1
HP:0002060	Abnormality of the cerebrum	283489	CHAMP1
HP:0002060	Abnormality of the cerebrum	23417	MLYCD
HP:0002060	Abnormality of the cerebrum	9150	CTDP1
HP:0002060	Abnormality of the cerebrum	9184	BUB3
HP:0002060	Abnormality of the cerebrum	23522	KAT6B
HP:0002060	Abnormality of the cerebrum	5119	CHMP1A
HP:0002060	Abnormality of the cerebrum	1123	CHN1
HP:0002060	Abnormality of the cerebrum	60528	ELAC2
HP:0002060	Abnormality of the cerebrum	9361	LONP1
HP:0002060	Abnormality of the cerebrum	1181	CLCN2
HP:0002060	Abnormality of the cerebrum	7443	VRK1
HP:0002060	Abnormality of the cerebrum	9526	MPDU1
HP:0002060	Abnormality of the cerebrum	25939	SAMHD1
HP:0002060	Abnormality of the cerebrum	7546	ZIC2
HP:0002060	Abnormality of the cerebrum	54820	NDE1
HP:0002060	Abnormality of the cerebrum	1605	DAG1
HP:0002060	Abnormality of the cerebrum	5723	PSPH
HP:0002060	Abnormality of the cerebrum	124590	USH1G
HP:0002060	Abnormality of the cerebrum	3798	KIF5A
HP:0002060	Abnormality of the cerebrum	83696	TRAPPC9
HP:0002060	Abnormality of the cerebrum	79600	TCTN1
HP:0002060	Abnormality of the cerebrum	9997	SCO2
HP:0002060	Abnormality of the cerebrum	5932	RBBP8
HP:0002060	Abnormality of the cerebrum	3908	LAMA2
HP:0002060	Abnormality of the cerebrum	10084	PQBP1
HP:0002060	Abnormality of the cerebrum	1917	EEF1A2
HP:0002060	Abnormality of the cerebrum	55180	LINS1
HP:0002060	Abnormality of the cerebrum	79813	EHMT1
HP:0002060	Abnormality of the cerebrum	2006	ELN
HP:0002060	Abnormality of the cerebrum	51199	NIN
HP:0003319	Abnormality of the cervical spine	1123	CHN1
HP:0003319	Abnormality of the cervical spine	9321	TRIP11
HP:0003319	Abnormality of the cervical spine	118429	ANTXR2
HP:0003319	Abnormality of the cervical spine	2778	GNAS
HP:0003319	Abnormality of the cervical spine	2799	GNS
HP:0003319	Abnormality of the cervical spine	83696	TRAPPC9
HP:0003319	Abnormality of the cervical spine	6899	TBX1
HP:0003319	Abnormality of the cervical spine	126792	B3GALT6
HP:0003319	Abnormality of the cervical spine	1954	MEGF8
HP:0003319	Abnormality of the cervical spine	10682	EBP
HP:0003319	Abnormality of the cervical spine	9150	CTDP1
HP:0004426	Abnormality of the cheek	10516	FBLN5
HP:0004426	Abnormality of the cheek	1123	CHN1
HP:0004426	Abnormality of the cheek	1909	EDNRA
HP:0004426	Abnormality of the cheek	10370	CITED2
HP:0004426	Abnormality of the cheek	57492	ARID1B
HP:0004426	Abnormality of the cheek	2006	ELN
HP:0004426	Abnormality of the cheek	2778	GNAS
HP:0004426	Abnormality of the cheek	23522	KAT6B
HP:0004426	Abnormality of the cheek	6899	TBX1
HP:0000306	Abnormality of the chin	83737	ITCH
HP:0000306	Abnormality of the chin	10084	PQBP1
HP:0000306	Abnormality of the chin	613	BCR
HP:0000306	Abnormality of the chin	283489	CHAMP1
HP:0000306	Abnormality of the chin	79813	EHMT1
HP:0000306	Abnormality of the chin	2006	ELN
HP:0000306	Abnormality of the chin	2778	GNAS
HP:0000415	Abnormality of the choanae	2189	FANCG
HP:0000415	Abnormality of the choanae	57492	ARID1B
HP:0000415	Abnormality of the choanae	57167	SALL4
HP:0000415	Abnormality of the choanae	57697	FANCM
HP:0000415	Abnormality of the choanae	613	BCR
HP:0000415	Abnormality of the choanae	6899	TBX1
HP:0000415	Abnormality of the choanae	8318	CDC45
HP:0007376	Abnormality of the choroid plexus	2778	GNAS
HP:0000889	Abnormality of the clavicle	4488	MSX2
HP:0000889	Abnormality of the clavicle	57492	ARID1B
HP:0000889	Abnormality of the clavicle	57167	SALL4
HP:0000889	Abnormality of the clavicle	9321	TRIP11
HP:0000889	Abnormality of the clavicle	8318	CDC45
HP:0000056	Abnormality of the clitoris	7681	MKRN3
HP:0000056	Abnormality of the clitoris	6736	SRY
HP:0000056	Abnormality of the clitoris	23522	KAT6B
HP:0000056	Abnormality of the clitoris	8318	CDC45
HP:0003256	Abnormality of the coagulation cascade	80270	HSD3B7
HP:0003256	Abnormality of the coagulation cascade	9526	MPDU1
HP:0000502	Abnormality of the conjunctiva	56262	LRRC8A
HP:0000502	Abnormality of the conjunctiva	2778	GNAS
HP:0000481	Abnormality of the cornea	5130	PCYT1A
HP:0000481	Abnormality of the cornea	5148	PDE6G
HP:0000481	Abnormality of the cornea	1123	CHN1
HP:0000481	Abnormality of the cornea	2189	FANCG
HP:0000481	Abnormality of the cornea	57492	ARID1B
HP:0000481	Abnormality of the cornea	6295	SAG
HP:0000481	Abnormality of the cornea	57697	FANCM
HP:0000481	Abnormality of the cornea	30062	RAX
HP:0000481	Abnormality of the cornea	1414	CRYBB1
HP:0000481	Abnormality of the cornea	1421	CRYGD
HP:0000481	Abnormality of the cornea	6575	SLC20A2
HP:0000481	Abnormality of the cornea	10682	EBP
HP:0000481	Abnormality of the cornea	1605	DAG1
HP:0000481	Abnormality of the cornea	2778	GNAS
HP:0000481	Abnormality of the cornea	64218	SEMA4A
HP:0000481	Abnormality of the cornea	6899	TBX1
HP:0000481	Abnormality of the cornea	57167	SALL4
HP:0000481	Abnormality of the cornea	3949	LDLR
HP:0000481	Abnormality of the cornea	2934	GSN
HP:0000481	Abnormality of the cornea	346007	EYS
HP:0000481	Abnormality of the cornea	1954	MEGF8
HP:0000481	Abnormality of the cornea	9150	CTDP1
HP:0000481	Abnormality of the cornea	2006	ELN
HP:0000481	Abnormality of the cornea	9184	BUB3
HP:0000481	Abnormality of the cornea	5119	CHMP1A
HP:0001273	Abnormality of the corpus callosum	10300	KATNB1
HP:0001273	Abnormality of the corpus callosum	9361	LONP1
HP:0001273	Abnormality of the corpus callosum	57492	ARID1B
HP:0001273	Abnormality of the corpus callosum	80208	SPG11
HP:0001273	Abnormality of the corpus callosum	6496	SIX3
HP:0001273	Abnormality of the corpus callosum	10617	STAMBP
HP:0001273	Abnormality of the corpus callosum	54820	NDE1
HP:0001273	Abnormality of the corpus callosum	1605	DAG1
HP:0001273	Abnormality of the corpus callosum	83696	TRAPPC9
HP:0001273	Abnormality of the corpus callosum	79600	TCTN1
HP:0001273	Abnormality of the corpus callosum	79813	EHMT1
HP:0001273	Abnormality of the corpus callosum	9184	BUB3
HP:0001273	Abnormality of the corpus callosum	23522	KAT6B
HP:0001273	Abnormality of the corpus callosum	5119	CHMP1A
HP:0002492	Abnormality of the corticospinal tract	80208	SPG11
HP:0002492	Abnormality of the corticospinal tract	2006	ELN
HP:0002492	Abnormality of the corticospinal tract	6687	SPG7
HP:0001291	Abnormality of the cranial nerves	1123	CHN1
HP:0001291	Abnormality of the cranial nerves	1130	LYST
HP:0001291	Abnormality of the cranial nerves	2189	FANCG
HP:0001291	Abnormality of the cranial nerves	3908	LAMA2
HP:0001291	Abnormality of the cranial nerves	57167	SALL4
HP:0001291	Abnormality of the cranial nerves	57697	FANCM
HP:0100691	Abnormality of the curvature of the cornea	5130	PCYT1A
HP:0100691	Abnormality of the curvature of the cornea	5148	PDE6G
HP:0100691	Abnormality of the curvature of the cornea	57697	FANCM
HP:0100691	Abnormality of the curvature of the cornea	2189	FANCG
HP:0100691	Abnormality of the curvature of the cornea	346007	EYS
HP:0100691	Abnormality of the curvature of the cornea	57492	ARID1B
HP:0100691	Abnormality of the curvature of the cornea	6295	SAG
HP:0100691	Abnormality of the curvature of the cornea	2006	ELN
HP:0100691	Abnormality of the curvature of the cornea	64218	SEMA4A
HP:0100691	Abnormality of the curvature of the cornea	5119	CHMP1A
HP:0010674	Abnormality of the curvature of the vertebral column	5130	PCYT1A
HP:0010674	Abnormality of the curvature of the vertebral column	8318	CDC45
HP:0010674	Abnormality of the curvature of the vertebral column	2189	FANCG
HP:0010674	Abnormality of the curvature of the vertebral column	9361	LONP1
HP:0010674	Abnormality of the curvature of the vertebral column	57492	ARID1B
HP:0010674	Abnormality of the curvature of the vertebral column	6305	SBF1
HP:0010674	Abnormality of the curvature of the vertebral column	10516	FBLN5
HP:0010674	Abnormality of the curvature of the vertebral column	80208	SPG11
HP:0010674	Abnormality of the curvature of the vertebral column	6496	SIX3
HP:0010674	Abnormality of the curvature of the vertebral column	57697	FANCM
HP:0010674	Abnormality of the curvature of the vertebral column	10682	EBP
HP:0010674	Abnormality of the curvature of the vertebral column	7681	MKRN3
HP:0010674	Abnormality of the curvature of the vertebral column	6660	SOX5
HP:0010674	Abnormality of the curvature of the vertebral column	6687	SPG7
HP:0010674	Abnormality of the curvature of the vertebral column	1605	DAG1
HP:0010674	Abnormality of the curvature of the vertebral column	6736	SRY
HP:0010674	Abnormality of the curvature of the vertebral column	613	BCR
HP:0010674	Abnormality of the curvature of the vertebral column	3798	KIF5A
HP:0010674	Abnormality of the curvature of the vertebral column	2778	GNAS
HP:0010674	Abnormality of the curvature of the vertebral column	79600	TCTN1
HP:0010674	Abnormality of the curvature of the vertebral column	6899	TBX1
HP:0010674	Abnormality of the curvature of the vertebral column	5932	RBBP8
HP:0010674	Abnormality of the curvature of the vertebral column	3908	LAMA2
HP:0010674	Abnormality of the curvature of the vertebral column	1861	TOR1A
HP:0010674	Abnormality of the curvature of the vertebral column	126792	B3GALT6
HP:0010674	Abnormality of the curvature of the vertebral column	57167	SALL4
HP:0010674	Abnormality of the curvature of the vertebral column	10084	PQBP1
HP:0010674	Abnormality of the curvature of the vertebral column	1954	MEGF8
HP:0010674	Abnormality of the curvature of the vertebral column	81846	SBF2
HP:0010674	Abnormality of the curvature of the vertebral column	9150	CTDP1
HP:0010674	Abnormality of the curvature of the vertebral column	2006	ELN
HP:0010674	Abnormality of the curvature of the vertebral column	23522	KAT6B
HP:0010674	Abnormality of the curvature of the vertebral column	51199	NIN
HP:0006479	Abnormality of the dental pulp	112752	IFT43
HP:0006486	Abnormality of the dental root	112752	IFT43
HP:0100321	Abnormality of the dentate nucleus	6575	SLC20A2
HP:0000164	Abnormality of the dentition	5130	PCYT1A
HP:0000164	Abnormality of the dentition	1130	LYST
HP:0000164	Abnormality of the dentition	112752	IFT43
HP:0000164	Abnormality of the dentition	9361	LONP1
HP:0000164	Abnormality of the dentition	57492	ARID1B
HP:0000164	Abnormality of the dentition	7341	SUMO1
HP:0000164	Abnormality of the dentition	10518	CIB2
HP:0000164	Abnormality of the dentition	6496	SIX3
HP:0000164	Abnormality of the dentition	4488	MSX2
HP:0000164	Abnormality of the dentition	10682	EBP
HP:0000164	Abnormality of the dentition	7681	MKRN3
HP:0000164	Abnormality of the dentition	6660	SOX5
HP:0000164	Abnormality of the dentition	9775	EIF4A3
HP:0000164	Abnormality of the dentition	118429	ANTXR2
HP:0000164	Abnormality of the dentition	124590	USH1G
HP:0000164	Abnormality of the dentition	2778	GNAS
HP:0000164	Abnormality of the dentition	6899	TBX1
HP:0000164	Abnormality of the dentition	5932	RBBP8
HP:0000164	Abnormality of the dentition	126792	B3GALT6
HP:0000164	Abnormality of the dentition	1909	EDNRA
HP:0000164	Abnormality of the dentition	9150	CTDP1
HP:0000164	Abnormality of the dentition	79813	EHMT1
HP:0000164	Abnormality of the dentition	2006	ELN
HP:0000164	Abnormality of the dentition	23522	KAT6B
HP:0000775	Abnormality of the diaphragm	57492	ARID1B
HP:0000775	Abnormality of the diaphragm	10516	FBLN5
HP:0010662	Abnormality of the diencephalon	2006	ELN
HP:0025031	Abnormality of the digestive system	8318	CDC45
HP:0025031	Abnormality of the digestive system	57492	ARID1B
HP:0025031	Abnormality of the digestive system	4261	CIITA
HP:0025031	Abnormality of the digestive system	4361	MRE11
HP:0025031	Abnormality of the digestive system	8516	ITGA8
HP:0025031	Abnormality of the digestive system	57697	FANCM
HP:0025031	Abnormality of the digestive system	410	ARSA
HP:0025031	Abnormality of the digestive system	445	ASS1
HP:0025031	Abnormality of the digestive system	4594	MUT
HP:0025031	Abnormality of the digestive system	4645	MYO5B
HP:0025031	Abnormality of the digestive system	613	BCR
HP:0025031	Abnormality of the digestive system	4729	NDUFV2
HP:0025031	Abnormality of the digestive system	8913	CACNA1G
HP:0025031	Abnormality of the digestive system	4842	NOS1
HP:0025031	Abnormality of the digestive system	811	CALR
HP:0025031	Abnormality of the digestive system	283489	CHAMP1
HP:0025031	Abnormality of the digestive system	9184	BUB3
HP:0025031	Abnormality of the digestive system	5119	CHMP1A
HP:0025031	Abnormality of the digestive system	5156	PDGFRA
HP:0025031	Abnormality of the digestive system	1123	CHN1
HP:0025031	Abnormality of the digestive system	9321	TRIP11
HP:0025031	Abnormality of the digestive system	1130	LYST
HP:0025031	Abnormality of the digestive system	9361	LONP1
HP:0025031	Abnormality of the digestive system	9526	MPDU1
HP:0025031	Abnormality of the digestive system	25913	POT1
HP:0025031	Abnormality of the digestive system	25939	SAMHD1
HP:0025031	Abnormality of the digestive system	5506	PPP1R3A
HP:0025031	Abnormality of the digestive system	9652	TTC37
HP:0025031	Abnormality of the digestive system	1536	CYBB
HP:0025031	Abnormality of the digestive system	9775	EIF4A3
HP:0025031	Abnormality of the digestive system	79600	TCTN1
HP:0025031	Abnormality of the digestive system	9997	SCO2
HP:0025031	Abnormality of the digestive system	83737	ITCH
HP:0025031	Abnormality of the digestive system	10084	PQBP1
HP:0025031	Abnormality of the digestive system	79719	AAGAB
HP:0025031	Abnormality of the digestive system	1908	EDN3
HP:0025031	Abnormality of the digestive system	6049	RNF6
HP:0025031	Abnormality of the digestive system	1954	MEGF8
HP:0025031	Abnormality of the digestive system	51128	SAR1B
HP:0025031	Abnormality of the digestive system	255928	SYT14
HP:0025031	Abnormality of the digestive system	79813	EHMT1
HP:0025031	Abnormality of the digestive system	2006	ELN
HP:0025031	Abnormality of the digestive system	112752	IFT43
HP:0025031	Abnormality of the digestive system	2189	FANCG
HP:0025031	Abnormality of the digestive system	55532	SLC30A10
HP:0025031	Abnormality of the digestive system	26873	OPLAH
HP:0025031	Abnormality of the digestive system	10516	FBLN5
HP:0025031	Abnormality of the digestive system	80208	SPG11
HP:0025031	Abnormality of the digestive system	6496	SIX3
HP:0025031	Abnormality of the digestive system	10599	SLCO1B1
HP:0025031	Abnormality of the digestive system	6531	SLC6A3
HP:0025031	Abnormality of the digestive system	80270	HSD3B7
HP:0025031	Abnormality of the digestive system	6575	SLC20A2
HP:0025031	Abnormality of the digestive system	51660	MPC1
HP:0025031	Abnormality of the digestive system	6660	SOX5
HP:0025031	Abnormality of the digestive system	6687	SPG7
HP:0025031	Abnormality of the digestive system	10892	MALT1
HP:0025031	Abnormality of the digestive system	2778	GNAS
HP:0025031	Abnormality of the digestive system	2799	GNS
HP:0025031	Abnormality of the digestive system	6899	TBX1
HP:0025031	Abnormality of the digestive system	23394	ADNP
HP:0025031	Abnormality of the digestive system	7018	TF
HP:0025031	Abnormality of the digestive system	2934	GSN
HP:0025031	Abnormality of the digestive system	23417	MLYCD
HP:0025031	Abnormality of the digestive system	56262	LRRC8A
HP:0025031	Abnormality of the digestive system	7128	TNFAIP3
HP:0025031	Abnormality of the digestive system	23522	KAT6B
HP:0025031	Abnormality of the digestive system	23534	TNPO3
HP:0025031	Abnormality of the digestive system	3242	HPD
HP:0025031	Abnormality of the digestive system	3257	HPS1
HP:0025031	Abnormality of the digestive system	7443	VRK1
HP:0025031	Abnormality of the digestive system	7486	WRN
HP:0025031	Abnormality of the digestive system	3561	IL2RG
HP:0025031	Abnormality of the digestive system	7681	MKRN3
HP:0025031	Abnormality of the digestive system	56922	MCCC1
HP:0025031	Abnormality of the digestive system	118429	ANTXR2
HP:0025031	Abnormality of the digestive system	3798	KIF5A
HP:0025031	Abnormality of the digestive system	7957	EPM2A
HP:0025031	Abnormality of the digestive system	3908	LAMA2
HP:0025031	Abnormality of the digestive system	126792	B3GALT6
HP:0025031	Abnormality of the digestive system	57167	SALL4
HP:0025031	Abnormality of the digestive system	3949	LDLR
HP:0025031	Abnormality of the digestive system	4023	LPL
HP:0010182	Abnormality of the distal phalanges of the toes	57492	ARID1B
HP:0009832	Abnormality of the distal phalanx of finger	126792	B3GALT6
HP:0009832	Abnormality of the distal phalanx of finger	57167	SALL4
HP:0009832	Abnormality of the distal phalanx of finger	613	BCR
HP:0009832	Abnormality of the distal phalanx of finger	112752	IFT43
HP:0009832	Abnormality of the distal phalanx of finger	10617	STAMBP
HP:0009832	Abnormality of the distal phalanx of finger	57492	ARID1B
HP:0009832	Abnormality of the distal phalanx of finger	2778	GNAS
HP:0004225	Abnormality of the distal phalanx of the 5th finger	57492	ARID1B
HP:0010392	Abnormality of the distal phalanx of the 5th toe	57492	ARID1B
HP:0009617	Abnormality of the distal phalanx of the thumb	57167	SALL4
HP:0009617	Abnormality of the distal phalanx of the thumb	2778	GNAS
HP:0002246	Abnormality of the duodenum	2189	FANCG
HP:0002246	Abnormality of the duodenum	57492	ARID1B
HP:0002246	Abnormality of the duodenum	9184	BUB3
HP:0002246	Abnormality of the duodenum	57697	FANCM
HP:0002246	Abnormality of the duodenum	8318	CDC45
HP:0000598	Abnormality of the ear	8318	CDC45
HP:0000598	Abnormality of the ear	2189	FANCG
HP:0000598	Abnormality of the ear	57492	ARID1B
HP:0000598	Abnormality of the ear	6295	SAG
HP:0000598	Abnormality of the ear	2254	FGF9
HP:0000598	Abnormality of the ear	84189	SLITRK6
HP:0000598	Abnormality of the ear	10518	CIB2
HP:0000598	Abnormality of the ear	8516	ITGA8
HP:0000598	Abnormality of the ear	57697	FANCM
HP:0000598	Abnormality of the ear	10617	STAMBP
HP:0000598	Abnormality of the ear	4488	MSX2
HP:0000598	Abnormality of the ear	10682	EBP
HP:0000598	Abnormality of the ear	4607	MYBPC3
HP:0000598	Abnormality of the ear	6660	SOX5
HP:0000598	Abnormality of the ear	4646	MYO6
HP:0000598	Abnormality of the ear	152137	CCDC50
HP:0000598	Abnormality of the ear	6736	SRY
HP:0000598	Abnormality of the ear	613	BCR
HP:0000598	Abnormality of the ear	4729	NDUFV2
HP:0000598	Abnormality of the ear	2778	GNAS
HP:0000598	Abnormality of the ear	64218	SEMA4A
HP:0000598	Abnormality of the ear	2799	GNS
HP:0000598	Abnormality of the ear	6899	TBX1
HP:0000598	Abnormality of the ear	375611	SLC26A5
HP:0000598	Abnormality of the ear	283489	CHAMP1
HP:0000598	Abnormality of the ear	56262	LRRC8A
HP:0000598	Abnormality of the ear	9184	BUB3
HP:0000598	Abnormality of the ear	23522	KAT6B
HP:0000598	Abnormality of the ear	5130	PCYT1A
HP:0000598	Abnormality of the ear	5148	PDE6G
HP:0000598	Abnormality of the ear	1123	CHN1
HP:0000598	Abnormality of the ear	60528	ELAC2
HP:0000598	Abnormality of the ear	9361	LONP1
HP:0000598	Abnormality of the ear	3426	CFI
HP:0000598	Abnormality of the ear	7546	ZIC2
HP:0000598	Abnormality of the ear	9652	TTC37
HP:0000598	Abnormality of the ear	3561	IL2RG
HP:0000598	Abnormality of the ear	1536	CYBB
HP:0000598	Abnormality of the ear	54820	NDE1
HP:0000598	Abnormality of the ear	9775	EIF4A3
HP:0000598	Abnormality of the ear	1605	DAG1
HP:0000598	Abnormality of the ear	124590	USH1G
HP:0000598	Abnormality of the ear	83696	TRAPPC9
HP:0000598	Abnormality of the ear	79600	TCTN1
HP:0000598	Abnormality of the ear	83737	ITCH
HP:0000598	Abnormality of the ear	5932	RBBP8
HP:0000598	Abnormality of the ear	57167	SALL4
HP:0000598	Abnormality of the ear	10084	PQBP1
HP:0000598	Abnormality of the ear	1908	EDN3
HP:0000598	Abnormality of the ear	1909	EDNRA
HP:0000598	Abnormality of the ear	1917	EEF1A2
HP:0000598	Abnormality of the ear	346007	EYS
HP:0000598	Abnormality of the ear	1954	MEGF8
HP:0000598	Abnormality of the ear	81846	SBF2
HP:0000598	Abnormality of the ear	79813	EHMT1
HP:0000598	Abnormality of the ear	2006	ELN
HP:0000598	Abnormality of the ear	51199	NIN
HP:0009811	Abnormality of the elbow	5130	PCYT1A
HP:0009811	Abnormality of the elbow	126792	B3GALT6
HP:0009811	Abnormality of the elbow	57167	SALL4
HP:0009811	Abnormality of the elbow	6736	SRY
HP:0009811	Abnormality of the elbow	8318	CDC45
HP:0009811	Abnormality of the elbow	57492	ARID1B
HP:0009811	Abnormality of the elbow	2254	FGF9
HP:0000818	Abnormality of the endocrine system	2189	FANCG
HP:0000818	Abnormality of the endocrine system	6295	SAG
HP:0000818	Abnormality of the endocrine system	8452	CUL3
HP:0000818	Abnormality of the endocrine system	10516	FBLN5
HP:0000818	Abnormality of the endocrine system	8516	ITGA8
HP:0000818	Abnormality of the endocrine system	6496	SIX3
HP:0000818	Abnormality of the endocrine system	57697	FANCM
HP:0000818	Abnormality of the endocrine system	6736	SRY
HP:0000818	Abnormality of the endocrine system	10892	MALT1
HP:0000818	Abnormality of the endocrine system	2778	GNAS
HP:0000818	Abnormality of the endocrine system	64218	SEMA4A
HP:0000818	Abnormality of the endocrine system	6899	TBX1
HP:0000818	Abnormality of the endocrine system	7018	TF
HP:0000818	Abnormality of the endocrine system	56246	MRAP
HP:0000818	Abnormality of the endocrine system	9150	CTDP1
HP:0000818	Abnormality of the endocrine system	9184	BUB3
HP:0000818	Abnormality of the endocrine system	23522	KAT6B
HP:0000818	Abnormality of the endocrine system	23534	TNPO3
HP:0000818	Abnormality of the endocrine system	5148	PDE6G
HP:0000818	Abnormality of the endocrine system	3242	HPD
HP:0000818	Abnormality of the endocrine system	7486	WRN
HP:0000818	Abnormality of the endocrine system	5506	PPP1R3A
HP:0000818	Abnormality of the endocrine system	3561	IL2RG
HP:0000818	Abnormality of the endocrine system	7681	MKRN3
HP:0000818	Abnormality of the endocrine system	118429	ANTXR2
HP:0000818	Abnormality of the endocrine system	83696	TRAPPC9
HP:0000818	Abnormality of the endocrine system	79600	TCTN1
HP:0000818	Abnormality of the endocrine system	1908	EDN3
HP:0000818	Abnormality of the endocrine system	346007	EYS
HP:0000818	Abnormality of the endocrine system	2006	ELN
HP:0000818	Abnormality of the endocrine system	51199	NIN
HP:0005483	Abnormality of the epiglottis	9775	EIF4A3
HP:0010574	Abnormality of the epiphysis of the femoral head	126792	B3GALT6
HP:0010938	Abnormality of the external nose	5148	PDE6G
HP:0010938	Abnormality of the external nose	1123	CHN1
HP:0010938	Abnormality of the external nose	9321	TRIP11
HP:0010938	Abnormality of the external nose	112752	IFT43
HP:0010938	Abnormality of the external nose	9361	LONP1
HP:0010938	Abnormality of the external nose	57492	ARID1B
HP:0010938	Abnormality of the external nose	6295	SAG
HP:0010938	Abnormality of the external nose	7486	WRN
HP:0010938	Abnormality of the external nose	8516	ITGA8
HP:0010938	Abnormality of the external nose	9652	TTC37
HP:0010938	Abnormality of the external nose	10682	EBP
HP:0010938	Abnormality of the external nose	6660	SOX5
HP:0010938	Abnormality of the external nose	613	BCR
HP:0010938	Abnormality of the external nose	64218	SEMA4A
HP:0010938	Abnormality of the external nose	2799	GNS
HP:0010938	Abnormality of the external nose	79600	TCTN1
HP:0010938	Abnormality of the external nose	6899	TBX1
HP:0010938	Abnormality of the external nose	5932	RBBP8
HP:0010938	Abnormality of the external nose	10084	PQBP1
HP:0010938	Abnormality of the external nose	1908	EDN3
HP:0010938	Abnormality of the external nose	346007	EYS
HP:0010938	Abnormality of the external nose	1954	MEGF8
HP:0010938	Abnormality of the external nose	79813	EHMT1
HP:0010938	Abnormality of the external nose	2006	ELN
HP:0010938	Abnormality of the external nose	9184	BUB3
HP:0010938	Abnormality of the external nose	23522	KAT6B
HP:0000478	Abnormality of the eye	8318	CDC45
HP:0000478	Abnormality of the eye	57492	ARID1B
HP:0000478	Abnormality of the eye	4361	MRE11
HP:0000478	Abnormality of the eye	8516	ITGA8
HP:0000478	Abnormality of the eye	57697	FANCM
HP:0000478	Abnormality of the eye	4488	MSX2
HP:0000478	Abnormality of the eye	410	ARSA
HP:0000478	Abnormality of the eye	4594	MUT
HP:0000478	Abnormality of the eye	4646	MYO6
HP:0000478	Abnormality of the eye	613	BCR
HP:0000478	Abnormality of the eye	4729	NDUFV2
HP:0000478	Abnormality of the eye	8913	CACNA1G
HP:0000478	Abnormality of the eye	811	CALR
HP:0000478	Abnormality of the eye	283489	CHAMP1
HP:0000478	Abnormality of the eye	9150	CTDP1
HP:0000478	Abnormality of the eye	9184	BUB3
HP:0000478	Abnormality of the eye	5119	CHMP1A
HP:0000478	Abnormality of the eye	5130	PCYT1A
HP:0000478	Abnormality of the eye	5148	PDE6G
HP:0000478	Abnormality of the eye	1123	CHN1
HP:0000478	Abnormality of the eye	1130	LYST
HP:0000478	Abnormality of the eye	5230	PGK1
HP:0000478	Abnormality of the eye	9361	LONP1
HP:0000478	Abnormality of the eye	1181	CLCN2
HP:0000478	Abnormality of the eye	9526	MPDU1
HP:0000478	Abnormality of the eye	25913	POT1
HP:0000478	Abnormality of the eye	25939	SAMHD1
HP:0000478	Abnormality of the eye	30062	RAX
HP:0000478	Abnormality of the eye	1414	CRYBB1
HP:0000478	Abnormality of the eye	1421	CRYGD
HP:0000478	Abnormality of the eye	9652	TTC37
HP:0000478	Abnormality of the eye	1536	CYBB
HP:0000478	Abnormality of the eye	54820	NDE1
HP:0000478	Abnormality of the eye	1605	DAG1
HP:0000478	Abnormality of the eye	124590	USH1G
HP:0000478	Abnormality of the eye	83696	TRAPPC9
HP:0000478	Abnormality of the eye	79600	TCTN1
HP:0000478	Abnormality of the eye	9997	SCO2
HP:0000478	Abnormality of the eye	83737	ITCH
HP:0000478	Abnormality of the eye	5932	RBBP8
HP:0000478	Abnormality of the eye	10084	PQBP1
HP:0000478	Abnormality of the eye	1908	EDN3
HP:0000478	Abnormality of the eye	1917	EEF1A2
HP:0000478	Abnormality of the eye	346007	EYS
HP:0000478	Abnormality of the eye	1954	MEGF8
HP:0000478	Abnormality of the eye	51128	SAR1B
HP:0000478	Abnormality of the eye	255928	SYT14
HP:0000478	Abnormality of the eye	79813	EHMT1
HP:0000478	Abnormality of the eye	2006	ELN
HP:0000478	Abnormality of the eye	51199	NIN
HP:0000478	Abnormality of the eye	112752	IFT43
HP:0000478	Abnormality of the eye	10370	CITED2
HP:0000478	Abnormality of the eye	2189	FANCG
HP:0000478	Abnormality of the eye	6295	SAG
HP:0000478	Abnormality of the eye	6305	SBF1
HP:0000478	Abnormality of the eye	84189	SLITRK6
HP:0000478	Abnormality of the eye	10516	FBLN5
HP:0000478	Abnormality of the eye	10518	CIB2
HP:0000478	Abnormality of the eye	80208	SPG11
HP:0000478	Abnormality of the eye	6496	SIX3
HP:0000478	Abnormality of the eye	10617	STAMBP
HP:0000478	Abnormality of the eye	80270	HSD3B7
HP:0000478	Abnormality of the eye	6575	SLC20A2
HP:0000478	Abnormality of the eye	10682	EBP
HP:0000478	Abnormality of the eye	51660	MPC1
HP:0000478	Abnormality of the eye	6660	SOX5
HP:0000478	Abnormality of the eye	113179	ADAT3
HP:0000478	Abnormality of the eye	6687	SPG7
HP:0000478	Abnormality of the eye	6736	SRY
HP:0000478	Abnormality of the eye	10892	MALT1
HP:0000478	Abnormality of the eye	2778	GNAS
HP:0000478	Abnormality of the eye	64218	SEMA4A
HP:0000478	Abnormality of the eye	6899	TBX1
HP:0000478	Abnormality of the eye	23394	ADNP
HP:0000478	Abnormality of the eye	2934	GSN
HP:0000478	Abnormality of the eye	56262	LRRC8A
HP:0000478	Abnormality of the eye	7128	TNFAIP3
HP:0000478	Abnormality of the eye	23522	KAT6B
HP:0000478	Abnormality of the eye	3257	HPS1
HP:0000478	Abnormality of the eye	7486	WRN
HP:0000478	Abnormality of the eye	7546	ZIC2
HP:0000478	Abnormality of the eye	7681	MKRN3
HP:0000478	Abnormality of the eye	3798	KIF5A
HP:0000478	Abnormality of the eye	7957	EPM2A
HP:0000478	Abnormality of the eye	3908	LAMA2
HP:0000478	Abnormality of the eye	126792	B3GALT6
HP:0000478	Abnormality of the eye	57167	SALL4
HP:0000478	Abnormality of the eye	3949	LDLR
HP:0000478	Abnormality of the eye	4023	LPL
HP:0000478	Abnormality of the eye	81846	SBF2
HP:0000478	Abnormality of the eye	4047	LSS
HP:0000499	Abnormality of the eyelashes	126792	B3GALT6
HP:0000499	Abnormality of the eyelashes	1908	EDN3
HP:0000499	Abnormality of the eyelashes	1909	EDNRA
HP:0000499	Abnormality of the eyelashes	57492	ARID1B
HP:0000499	Abnormality of the eyelashes	10682	EBP
HP:0000499	Abnormality of the eyelashes	9150	CTDP1
HP:0000271	Abnormality of the face	8318	CDC45
HP:0000271	Abnormality of the face	57492	ARID1B
HP:0000271	Abnormality of the face	4261	CIITA
HP:0000271	Abnormality of the face	8516	ITGA8
HP:0000271	Abnormality of the face	57697	FANCM
HP:0000271	Abnormality of the face	4488	MSX2
HP:0000271	Abnormality of the face	613	BCR
HP:0000271	Abnormality of the face	283489	CHAMP1
HP:0000271	Abnormality of the face	9150	CTDP1
HP:0000271	Abnormality of the face	9184	BUB3
HP:0000271	Abnormality of the face	5130	PCYT1A
HP:0000271	Abnormality of the face	5148	PDE6G
HP:0000271	Abnormality of the face	1123	CHN1
HP:0000271	Abnormality of the face	9321	TRIP11
HP:0000271	Abnormality of the face	1130	LYST
HP:0000271	Abnormality of the face	9361	LONP1
HP:0000271	Abnormality of the face	25939	SAMHD1
HP:0000271	Abnormality of the face	30062	RAX
HP:0000271	Abnormality of the face	5506	PPP1R3A
HP:0000271	Abnormality of the face	1414	CRYBB1
HP:0000271	Abnormality of the face	1421	CRYGD
HP:0000271	Abnormality of the face	9652	TTC37
HP:0000271	Abnormality of the face	1536	CYBB
HP:0000271	Abnormality of the face	54820	NDE1
HP:0000271	Abnormality of the face	9775	EIF4A3
HP:0000271	Abnormality of the face	1605	DAG1
HP:0000271	Abnormality of the face	124590	USH1G
HP:0000271	Abnormality of the face	83696	TRAPPC9
HP:0000271	Abnormality of the face	79600	TCTN1
HP:0000271	Abnormality of the face	83737	ITCH
HP:0000271	Abnormality of the face	5932	RBBP8
HP:0000271	Abnormality of the face	1861	TOR1A
HP:0000271	Abnormality of the face	10084	PQBP1
HP:0000271	Abnormality of the face	1908	EDN3
HP:0000271	Abnormality of the face	1909	EDNRA
HP:0000271	Abnormality of the face	1917	EEF1A2
HP:0000271	Abnormality of the face	55180	LINS1
HP:0000271	Abnormality of the face	346007	EYS
HP:0000271	Abnormality of the face	1954	MEGF8
HP:0000271	Abnormality of the face	79813	EHMT1
HP:0000271	Abnormality of the face	2006	ELN
HP:0000271	Abnormality of the face	51199	NIN
HP:0000271	Abnormality of the face	10300	KATNB1
HP:0000271	Abnormality of the face	112752	IFT43
HP:0000271	Abnormality of the face	10370	CITED2
HP:0000271	Abnormality of the face	2189	FANCG
HP:0000271	Abnormality of the face	6295	SAG
HP:0000271	Abnormality of the face	2254	FGF9
HP:0000271	Abnormality of the face	10516	FBLN5
HP:0000271	Abnormality of the face	10518	CIB2
HP:0000271	Abnormality of the face	6496	SIX3
HP:0000271	Abnormality of the face	10617	STAMBP
HP:0000271	Abnormality of the face	6575	SLC20A2
HP:0000271	Abnormality of the face	10682	EBP
HP:0000271	Abnormality of the face	51660	MPC1
HP:0000271	Abnormality of the face	6660	SOX5
HP:0000271	Abnormality of the face	6736	SRY
HP:0000271	Abnormality of the face	10892	MALT1
HP:0000271	Abnormality of the face	2778	GNAS
HP:0000271	Abnormality of the face	64218	SEMA4A
HP:0000271	Abnormality of the face	2799	GNS
HP:0000271	Abnormality of the face	6899	TBX1
HP:0000271	Abnormality of the face	23394	ADNP
HP:0000271	Abnormality of the face	56262	LRRC8A
HP:0000271	Abnormality of the face	7128	TNFAIP3
HP:0000271	Abnormality of the face	23522	KAT6B
HP:0000271	Abnormality of the face	7341	SUMO1
HP:0000271	Abnormality of the face	3257	HPS1
HP:0000271	Abnormality of the face	7486	WRN
HP:0000271	Abnormality of the face	3426	CFI
HP:0000271	Abnormality of the face	7546	ZIC2
HP:0000271	Abnormality of the face	3561	IL2RG
HP:0000271	Abnormality of the face	7681	MKRN3
HP:0000271	Abnormality of the face	118429	ANTXR2
HP:0000271	Abnormality of the face	3908	LAMA2
HP:0000271	Abnormality of the face	126792	B3GALT6
HP:0000271	Abnormality of the face	57167	SALL4
HP:0000271	Abnormality of the face	3949	LDLR
HP:0000271	Abnormality of the face	4023	LPL
HP:0011027	Abnormality of the fallopian tube	4361	MRE11
HP:0010460	Abnormality of the female genitalia	8318	CDC45
HP:0010460	Abnormality of the female genitalia	2189	FANCG
HP:0010460	Abnormality of the female genitalia	9361	LONP1
HP:0010460	Abnormality of the female genitalia	57492	ARID1B
HP:0010460	Abnormality of the female genitalia	4361	MRE11
HP:0010460	Abnormality of the female genitalia	7486	WRN
HP:0010460	Abnormality of the female genitalia	8516	ITGA8
HP:0010460	Abnormality of the female genitalia	57697	FANCM
HP:0010460	Abnormality of the female genitalia	5506	PPP1R3A
HP:0010460	Abnormality of the female genitalia	7681	MKRN3
HP:0010460	Abnormality of the female genitalia	6736	SRY
HP:0010460	Abnormality of the female genitalia	118429	ANTXR2
HP:0010460	Abnormality of the female genitalia	2778	GNAS
HP:0010460	Abnormality of the female genitalia	6899	TBX1
HP:0010460	Abnormality of the female genitalia	57167	SALL4
HP:0010460	Abnormality of the female genitalia	9150	CTDP1
HP:0010460	Abnormality of the female genitalia	2006	ELN
HP:0010460	Abnormality of the female genitalia	9184	BUB3
HP:0010460	Abnormality of the female genitalia	23522	KAT6B
HP:0010460	Abnormality of the female genitalia	51199	NIN
HP:0003368	Abnormality of the femoral head	126792	B3GALT6
HP:0006489	Abnormality of the femoral metaphysis	9321	TRIP11
HP:0003367	Abnormality of the femoral neck	5130	PCYT1A
HP:0003367	Abnormality of the femoral neck	126792	B3GALT6
HP:0003367	Abnormality of the femoral neck	613	BCR
HP:0003367	Abnormality of the femoral neck	57492	ARID1B
HP:0003367	Abnormality of the femoral neck	1954	MEGF8
HP:0003366	Abnormality of the femoral neck or head region	5130	PCYT1A
HP:0003366	Abnormality of the femoral neck or head region	126792	B3GALT6
HP:0003366	Abnormality of the femoral neck or head region	613	BCR
HP:0003366	Abnormality of the femoral neck or head region	57492	ARID1B
HP:0003366	Abnormality of the femoral neck or head region	1954	MEGF8
HP:0008089	Abnormality of the fifth metatarsal bone	2778	GNAS
HP:0001231	Abnormality of the fingernails	112752	IFT43
HP:0001231	Abnormality of the fingernails	57492	ARID1B
HP:0001231	Abnormality of the fingernails	10682	EBP
HP:0001231	Abnormality of the fingernails	2006	ELN
HP:0000235	Abnormality of the fontanelles or cranial sutures	112752	IFT43
HP:0000235	Abnormality of the fontanelles or cranial sutures	8318	CDC45
HP:0000235	Abnormality of the fontanelles or cranial sutures	6899	TBX1
HP:0000235	Abnormality of the fontanelles or cranial sutures	10516	FBLN5
HP:0000235	Abnormality of the fontanelles or cranial sutures	5932	RBBP8
HP:0000235	Abnormality of the fontanelles or cranial sutures	4488	MSX2
HP:0000235	Abnormality of the fontanelles or cranial sutures	1954	MEGF8
HP:0001760	Abnormality of the foot	112752	IFT43
HP:0001760	Abnormality of the foot	8318	CDC45
HP:0001760	Abnormality of the foot	2189	FANCG
HP:0001760	Abnormality of the foot	57492	ARID1B
HP:0001760	Abnormality of the foot	6305	SBF1
HP:0001760	Abnormality of the foot	2254	FGF9
HP:0001760	Abnormality of the foot	10516	FBLN5
HP:0001760	Abnormality of the foot	8516	ITGA8
HP:0001760	Abnormality of the foot	80208	SPG11
HP:0001760	Abnormality of the foot	57697	FANCM
HP:0001760	Abnormality of the foot	10682	EBP
HP:0001760	Abnormality of the foot	6660	SOX5
HP:0001760	Abnormality of the foot	6687	SPG7
HP:0001760	Abnormality of the foot	6736	SRY
HP:0001760	Abnormality of the foot	613	BCR
HP:0001760	Abnormality of the foot	2778	GNAS
HP:0001760	Abnormality of the foot	6899	TBX1
HP:0001760	Abnormality of the foot	9150	CTDP1
HP:0001760	Abnormality of the foot	23522	KAT6B
HP:0001760	Abnormality of the foot	5119	CHMP1A
HP:0001760	Abnormality of the foot	1123	CHN1
HP:0001760	Abnormality of the foot	9321	TRIP11
HP:0001760	Abnormality of the foot	9361	LONP1
HP:0001760	Abnormality of the foot	7443	VRK1
HP:0001760	Abnormality of the foot	7486	WRN
HP:0001760	Abnormality of the foot	3561	IL2RG
HP:0001760	Abnormality of the foot	7681	MKRN3
HP:0001760	Abnormality of the foot	54820	NDE1
HP:0001760	Abnormality of the foot	9775	EIF4A3
HP:0001760	Abnormality of the foot	1605	DAG1
HP:0001760	Abnormality of the foot	3798	KIF5A
HP:0001760	Abnormality of the foot	79600	TCTN1
HP:0001760	Abnormality of the foot	5932	RBBP8
HP:0001760	Abnormality of the foot	126792	B3GALT6
HP:0001760	Abnormality of the foot	57167	SALL4
HP:0001760	Abnormality of the foot	10084	PQBP1
HP:0001760	Abnormality of the foot	6049	RNF6
HP:0001760	Abnormality of the foot	1954	MEGF8
HP:0001760	Abnormality of the foot	81846	SBF2
HP:0001760	Abnormality of the foot	79813	EHMT1
HP:0001760	Abnormality of the foot	2006	ELN
HP:0001436	Abnormality of the foot musculature	80208	SPG11
HP:0001436	Abnormality of the foot musculature	1130	LYST
HP:0001436	Abnormality of the foot musculature	81846	SBF2
HP:0002973	Abnormality of the forearm	9775	EIF4A3
HP:0002973	Abnormality of the forearm	126792	B3GALT6
HP:0002973	Abnormality of the forearm	57167	SALL4
HP:0002973	Abnormality of the forearm	57697	FANCM
HP:0002973	Abnormality of the forearm	1123	CHN1
HP:0002973	Abnormality of the forearm	9321	TRIP11
HP:0002973	Abnormality of the forearm	2189	FANCG
HP:0002973	Abnormality of the forearm	57492	ARID1B
HP:0002973	Abnormality of the forearm	2254	FGF9
HP:0002973	Abnormality of the forearm	2006	ELN
HP:0002973	Abnormality of the forearm	23522	KAT6B
HP:0000290	Abnormality of the forehead	10300	KATNB1
HP:0000290	Abnormality of the forehead	9321	TRIP11
HP:0000290	Abnormality of the forehead	112752	IFT43
HP:0000290	Abnormality of the forehead	10370	CITED2
HP:0000290	Abnormality of the forehead	2189	FANCG
HP:0000290	Abnormality of the forehead	57697	FANCM
HP:0000290	Abnormality of the forehead	10617	STAMBP
HP:0000290	Abnormality of the forehead	7546	ZIC2
HP:0000290	Abnormality of the forehead	4488	MSX2
HP:0000290	Abnormality of the forehead	9652	TTC37
HP:0000290	Abnormality of the forehead	10682	EBP
HP:0000290	Abnormality of the forehead	7681	MKRN3
HP:0000290	Abnormality of the forehead	6660	SOX5
HP:0000290	Abnormality of the forehead	54820	NDE1
HP:0000290	Abnormality of the forehead	2799	GNS
HP:0000290	Abnormality of the forehead	83696	TRAPPC9
HP:0000290	Abnormality of the forehead	6899	TBX1
HP:0000290	Abnormality of the forehead	83737	ITCH
HP:0000290	Abnormality of the forehead	5932	RBBP8
HP:0000290	Abnormality of the forehead	126792	B3GALT6
HP:0000290	Abnormality of the forehead	23394	ADNP
HP:0000290	Abnormality of the forehead	1954	MEGF8
HP:0000290	Abnormality of the forehead	2006	ELN
HP:0000290	Abnormality of the forehead	9184	BUB3
HP:0000290	Abnormality of the forehead	23522	KAT6B
HP:0010950	Abnormality of the fourth ventricle	1605	DAG1
HP:0010950	Abnormality of the fourth ventricle	2683	B4GALT1
HP:0010950	Abnormality of the fourth ventricle	57492	ARID1B
HP:0010950	Abnormality of the fourth ventricle	10682	EBP
HP:0010950	Abnormality of the fourth ventricle	9184	BUB3
HP:0005264	Abnormality of the gallbladder	410	ARSA
HP:0005264	Abnormality of the gallbladder	2006	ELN
HP:0005264	Abnormality of the gallbladder	6899	TBX1
HP:0004295	Abnormality of the gastric mucosa	10599	SLCO1B1
HP:0004295	Abnormality of the gastric mucosa	57492	ARID1B
HP:0004295	Abnormality of the gastric mucosa	2006	ELN
HP:0011024	Abnormality of the gastrointestinal tract	8318	CDC45
HP:0011024	Abnormality of the gastrointestinal tract	2189	FANCG
HP:0011024	Abnormality of the gastrointestinal tract	57492	ARID1B
HP:0011024	Abnormality of the gastrointestinal tract	4261	CIITA
HP:0011024	Abnormality of the gastrointestinal tract	26873	OPLAH
HP:0011024	Abnormality of the gastrointestinal tract	4361	MRE11
HP:0011024	Abnormality of the gastrointestinal tract	10516	FBLN5
HP:0011024	Abnormality of the gastrointestinal tract	8516	ITGA8
HP:0011024	Abnormality of the gastrointestinal tract	80208	SPG11
HP:0011024	Abnormality of the gastrointestinal tract	57697	FANCM
HP:0011024	Abnormality of the gastrointestinal tract	10599	SLCO1B1
HP:0011024	Abnormality of the gastrointestinal tract	6531	SLC6A3
HP:0011024	Abnormality of the gastrointestinal tract	80270	HSD3B7
HP:0011024	Abnormality of the gastrointestinal tract	6660	SOX5
HP:0011024	Abnormality of the gastrointestinal tract	6687	SPG7
HP:0011024	Abnormality of the gastrointestinal tract	4645	MYO5B
HP:0011024	Abnormality of the gastrointestinal tract	613	BCR
HP:0011024	Abnormality of the gastrointestinal tract	8913	CACNA1G
HP:0011024	Abnormality of the gastrointestinal tract	2778	GNAS
HP:0011024	Abnormality of the gastrointestinal tract	4842	NOS1
HP:0011024	Abnormality of the gastrointestinal tract	2799	GNS
HP:0011024	Abnormality of the gastrointestinal tract	6899	TBX1
HP:0011024	Abnormality of the gastrointestinal tract	283489	CHAMP1
HP:0011024	Abnormality of the gastrointestinal tract	56262	LRRC8A
HP:0011024	Abnormality of the gastrointestinal tract	7128	TNFAIP3
HP:0011024	Abnormality of the gastrointestinal tract	9184	BUB3
HP:0011024	Abnormality of the gastrointestinal tract	23522	KAT6B
HP:0011024	Abnormality of the gastrointestinal tract	23534	TNPO3
HP:0011024	Abnormality of the gastrointestinal tract	5119	CHMP1A
HP:0011024	Abnormality of the gastrointestinal tract	5156	PDGFRA
HP:0011024	Abnormality of the gastrointestinal tract	1123	CHN1
HP:0011024	Abnormality of the gastrointestinal tract	1130	LYST
HP:0011024	Abnormality of the gastrointestinal tract	9361	LONP1
HP:0011024	Abnormality of the gastrointestinal tract	3257	HPS1
HP:0011024	Abnormality of the gastrointestinal tract	25913	POT1
HP:0011024	Abnormality of the gastrointestinal tract	7486	WRN
HP:0011024	Abnormality of the gastrointestinal tract	9652	TTC37
HP:0011024	Abnormality of the gastrointestinal tract	1536	CYBB
HP:0011024	Abnormality of the gastrointestinal tract	118429	ANTXR2
HP:0011024	Abnormality of the gastrointestinal tract	3798	KIF5A
HP:0011024	Abnormality of the gastrointestinal tract	79600	TCTN1
HP:0011024	Abnormality of the gastrointestinal tract	3908	LAMA2
HP:0011024	Abnormality of the gastrointestinal tract	126792	B3GALT6
HP:0011024	Abnormality of the gastrointestinal tract	57167	SALL4
HP:0011024	Abnormality of the gastrointestinal tract	10084	PQBP1
HP:0011024	Abnormality of the gastrointestinal tract	79719	AAGAB
HP:0011024	Abnormality of the gastrointestinal tract	1908	EDN3
HP:0011024	Abnormality of the gastrointestinal tract	6049	RNF6
HP:0011024	Abnormality of the gastrointestinal tract	51128	SAR1B
HP:0011024	Abnormality of the gastrointestinal tract	255928	SYT14
HP:0011024	Abnormality of the gastrointestinal tract	79813	EHMT1
HP:0011024	Abnormality of the gastrointestinal tract	2006	ELN
HP:0000078	Abnormality of the genital system	8287	USP9Y
HP:0000078	Abnormality of the genital system	8318	CDC45
HP:0000078	Abnormality of the genital system	10370	CITED2
HP:0000078	Abnormality of the genital system	2189	FANCG
HP:0000078	Abnormality of the genital system	57492	ARID1B
HP:0000078	Abnormality of the genital system	6295	SAG
HP:0000078	Abnormality of the genital system	4361	MRE11
HP:0000078	Abnormality of the genital system	8516	ITGA8
HP:0000078	Abnormality of the genital system	57697	FANCM
HP:0000078	Abnormality of the genital system	10682	EBP
HP:0000078	Abnormality of the genital system	6660	SOX5
HP:0000078	Abnormality of the genital system	6736	SRY
HP:0000078	Abnormality of the genital system	2778	GNAS
HP:0000078	Abnormality of the genital system	64218	SEMA4A
HP:0000078	Abnormality of the genital system	6899	TBX1
HP:0000078	Abnormality of the genital system	9150	CTDP1
HP:0000078	Abnormality of the genital system	7128	TNFAIP3
HP:0000078	Abnormality of the genital system	9184	BUB3
HP:0000078	Abnormality of the genital system	23522	KAT6B
HP:0000078	Abnormality of the genital system	5148	PDE6G
HP:0000078	Abnormality of the genital system	9361	LONP1
HP:0000078	Abnormality of the genital system	7486	WRN
HP:0000078	Abnormality of the genital system	5506	PPP1R3A
HP:0000078	Abnormality of the genital system	7681	MKRN3
HP:0000078	Abnormality of the genital system	1605	DAG1
HP:0000078	Abnormality of the genital system	118429	ANTXR2
HP:0000078	Abnormality of the genital system	5932	RBBP8
HP:0000078	Abnormality of the genital system	126792	B3GALT6
HP:0000078	Abnormality of the genital system	57167	SALL4
HP:0000078	Abnormality of the genital system	10084	PQBP1
HP:0000078	Abnormality of the genital system	346007	EYS
HP:0000078	Abnormality of the genital system	1954	MEGF8
HP:0000078	Abnormality of the genital system	79813	EHMT1
HP:0000078	Abnormality of the genital system	2006	ELN
HP:0000078	Abnormality of the genital system	51199	NIN
HP:0000119	Abnormality of the genitourinary system	8287	USP9Y
HP:0000119	Abnormality of the genitourinary system	8318	CDC45
HP:0000119	Abnormality of the genitourinary system	57492	ARID1B
HP:0000119	Abnormality of the genitourinary system	4261	CIITA
HP:0000119	Abnormality of the genitourinary system	57592	ZNF687
HP:0000119	Abnormality of the genitourinary system	4361	MRE11
HP:0000119	Abnormality of the genitourinary system	8516	ITGA8
HP:0000119	Abnormality of the genitourinary system	57697	FANCM
HP:0000119	Abnormality of the genitourinary system	410	ARSA
HP:0000119	Abnormality of the genitourinary system	4594	MUT
HP:0000119	Abnormality of the genitourinary system	4645	MYO5B
HP:0000119	Abnormality of the genitourinary system	613	BCR
HP:0000119	Abnormality of the genitourinary system	8913	CACNA1G
HP:0000119	Abnormality of the genitourinary system	9150	CTDP1
HP:0000119	Abnormality of the genitourinary system	9184	BUB3
HP:0000119	Abnormality of the genitourinary system	5148	PDE6G
HP:0000119	Abnormality of the genitourinary system	1123	CHN1
HP:0000119	Abnormality of the genitourinary system	5230	PGK1
HP:0000119	Abnormality of the genitourinary system	9361	LONP1
HP:0000119	Abnormality of the genitourinary system	5506	PPP1R3A
HP:0000119	Abnormality of the genitourinary system	9652	TTC37
HP:0000119	Abnormality of the genitourinary system	1605	DAG1
HP:0000119	Abnormality of the genitourinary system	5932	RBBP8
HP:0000119	Abnormality of the genitourinary system	10084	PQBP1
HP:0000119	Abnormality of the genitourinary system	79719	AAGAB
HP:0000119	Abnormality of the genitourinary system	1909	EDNRA
HP:0000119	Abnormality of the genitourinary system	346007	EYS
HP:0000119	Abnormality of the genitourinary system	1954	MEGF8
HP:0000119	Abnormality of the genitourinary system	79813	EHMT1
HP:0000119	Abnormality of the genitourinary system	2006	ELN
HP:0000119	Abnormality of the genitourinary system	51199	NIN
HP:0000119	Abnormality of the genitourinary system	112752	IFT43
HP:0000119	Abnormality of the genitourinary system	10370	CITED2
HP:0000119	Abnormality of the genitourinary system	2189	FANCG
HP:0000119	Abnormality of the genitourinary system	6295	SAG
HP:0000119	Abnormality of the genitourinary system	6305	SBF1
HP:0000119	Abnormality of the genitourinary system	84189	SLITRK6
HP:0000119	Abnormality of the genitourinary system	26873	OPLAH
HP:0000119	Abnormality of the genitourinary system	10516	FBLN5
HP:0000119	Abnormality of the genitourinary system	80208	SPG11
HP:0000119	Abnormality of the genitourinary system	10617	STAMBP
HP:0000119	Abnormality of the genitourinary system	6575	SLC20A2
HP:0000119	Abnormality of the genitourinary system	10682	EBP
HP:0000119	Abnormality of the genitourinary system	51660	MPC1
HP:0000119	Abnormality of the genitourinary system	6660	SOX5
HP:0000119	Abnormality of the genitourinary system	6687	SPG7
HP:0000119	Abnormality of the genitourinary system	6736	SRY
HP:0000119	Abnormality of the genitourinary system	10841	FTCD
HP:0000119	Abnormality of the genitourinary system	2778	GNAS
HP:0000119	Abnormality of the genitourinary system	64218	SEMA4A
HP:0000119	Abnormality of the genitourinary system	2799	GNS
HP:0000119	Abnormality of the genitourinary system	6899	TBX1
HP:0000119	Abnormality of the genitourinary system	64321	SOX17
HP:0000119	Abnormality of the genitourinary system	2934	GSN
HP:0000119	Abnormality of the genitourinary system	7128	TNFAIP3
HP:0000119	Abnormality of the genitourinary system	23522	KAT6B
HP:0000119	Abnormality of the genitourinary system	7225	TRPC6
HP:0000119	Abnormality of the genitourinary system	3242	HPD
HP:0000119	Abnormality of the genitourinary system	3257	HPS1
HP:0000119	Abnormality of the genitourinary system	7486	WRN
HP:0000119	Abnormality of the genitourinary system	3426	CFI
HP:0000119	Abnormality of the genitourinary system	3561	IL2RG
HP:0000119	Abnormality of the genitourinary system	7681	MKRN3
HP:0000119	Abnormality of the genitourinary system	56922	MCCC1
HP:0000119	Abnormality of the genitourinary system	118429	ANTXR2
HP:0000119	Abnormality of the genitourinary system	3798	KIF5A
HP:0000119	Abnormality of the genitourinary system	126792	B3GALT6
HP:0000119	Abnormality of the genitourinary system	57167	SALL4
HP:0000119	Abnormality of the genitourinary system	3949	LDLR
HP:0000168	Abnormality of the gingiva	1536	CYBB
HP:0000168	Abnormality of the gingiva	126792	B3GALT6
HP:0000168	Abnormality of the gingiva	1130	LYST
HP:0000168	Abnormality of the gingiva	118429	ANTXR2
HP:0000168	Abnormality of the gingiva	3257	HPS1
HP:0000168	Abnormality of the gingiva	2006	ELN
HP:0100705	Abnormality of the glial cells	9997	SCO2
HP:0100705	Abnormality of the glial cells	7443	VRK1
HP:0100705	Abnormality of the glial cells	3908	LAMA2
HP:0010456	Abnormality of the greater sacrosciatic notch	5130	PCYT1A
HP:0001595	Abnormality of the hair	112752	IFT43
HP:0001595	Abnormality of the hair	8318	CDC45
HP:0001595	Abnormality of the hair	57492	ARID1B
HP:0001595	Abnormality of the hair	10617	STAMBP
HP:0001595	Abnormality of the hair	10682	EBP
HP:0001595	Abnormality of the hair	6736	SRY
HP:0001595	Abnormality of the hair	613	BCR
HP:0001595	Abnormality of the hair	6768	ST14
HP:0001595	Abnormality of the hair	2778	GNAS
HP:0001595	Abnormality of the hair	2799	GNS
HP:0001595	Abnormality of the hair	9150	CTDP1
HP:0001595	Abnormality of the hair	23522	KAT6B
HP:0001595	Abnormality of the hair	5119	CHMP1A
HP:0001595	Abnormality of the hair	1123	CHN1
HP:0001595	Abnormality of the hair	1130	LYST
HP:0001595	Abnormality of the hair	3242	HPD
HP:0001595	Abnormality of the hair	3257	HPS1
HP:0001595	Abnormality of the hair	25913	POT1
HP:0001595	Abnormality of the hair	7486	WRN
HP:0001595	Abnormality of the hair	7546	ZIC2
HP:0001595	Abnormality of the hair	5506	PPP1R3A
HP:0001595	Abnormality of the hair	9652	TTC37
HP:0001595	Abnormality of the hair	3561	IL2RG
HP:0001595	Abnormality of the hair	7681	MKRN3
HP:0001595	Abnormality of the hair	118429	ANTXR2
HP:0001595	Abnormality of the hair	83696	TRAPPC9
HP:0001595	Abnormality of the hair	79600	TCTN1
HP:0001595	Abnormality of the hair	5932	RBBP8
HP:0001595	Abnormality of the hair	126792	B3GALT6
HP:0001595	Abnormality of the hair	10084	PQBP1
HP:0001595	Abnormality of the hair	1908	EDN3
HP:0001595	Abnormality of the hair	1909	EDNRA
HP:0001595	Abnormality of the hair	1954	MEGF8
HP:0001595	Abnormality of the hair	79813	EHMT1
HP:0001595	Abnormality of the hair	2006	ELN
HP:0009553	Abnormality of the hairline	6736	SRY
HP:0009553	Abnormality of the hairline	1123	CHN1
HP:0009553	Abnormality of the hairline	23522	KAT6B
HP:0001844	Abnormality of the hallux	6660	SOX5
HP:0001844	Abnormality of the hallux	5932	RBBP8
HP:0001844	Abnormality of the hallux	126792	B3GALT6
HP:0001844	Abnormality of the hallux	57167	SALL4
HP:0001844	Abnormality of the hallux	6736	SRY
HP:0001844	Abnormality of the hallux	1954	MEGF8
HP:0001844	Abnormality of the hallux	2006	ELN
HP:0001844	Abnormality of the hallux	6899	TBX1
HP:0001155	Abnormality of the hand	112752	IFT43
HP:0001155	Abnormality of the hand	8318	CDC45
HP:0001155	Abnormality of the hand	10370	CITED2
HP:0001155	Abnormality of the hand	2189	FANCG
HP:0001155	Abnormality of the hand	57492	ARID1B
HP:0001155	Abnormality of the hand	2254	FGF9
HP:0001155	Abnormality of the hand	10516	FBLN5
HP:0001155	Abnormality of the hand	80208	SPG11
HP:0001155	Abnormality of the hand	57697	FANCM
HP:0001155	Abnormality of the hand	10617	STAMBP
HP:0001155	Abnormality of the hand	4488	MSX2
HP:0001155	Abnormality of the hand	10682	EBP
HP:0001155	Abnormality of the hand	6660	SOX5
HP:0001155	Abnormality of the hand	6736	SRY
HP:0001155	Abnormality of the hand	613	BCR
HP:0001155	Abnormality of the hand	2778	GNAS
HP:0001155	Abnormality of the hand	6899	TBX1
HP:0001155	Abnormality of the hand	23394	ADNP
HP:0001155	Abnormality of the hand	9150	CTDP1
HP:0001155	Abnormality of the hand	9184	BUB3
HP:0001155	Abnormality of the hand	23522	KAT6B
HP:0001155	Abnormality of the hand	5130	PCYT1A
HP:0001155	Abnormality of the hand	5156	PDGFRA
HP:0001155	Abnormality of the hand	1123	CHN1
HP:0001155	Abnormality of the hand	9321	TRIP11
HP:0001155	Abnormality of the hand	9361	LONP1
HP:0001155	Abnormality of the hand	7486	WRN
HP:0001155	Abnormality of the hand	25939	SAMHD1
HP:0001155	Abnormality of the hand	7681	MKRN3
HP:0001155	Abnormality of the hand	9775	EIF4A3
HP:0001155	Abnormality of the hand	118429	ANTXR2
HP:0001155	Abnormality of the hand	83696	TRAPPC9
HP:0001155	Abnormality of the hand	79600	TCTN1
HP:0001155	Abnormality of the hand	5932	RBBP8
HP:0001155	Abnormality of the hand	126792	B3GALT6
HP:0001155	Abnormality of the hand	57167	SALL4
HP:0001155	Abnormality of the hand	10084	PQBP1
HP:0001155	Abnormality of the hand	1908	EDN3
HP:0001155	Abnormality of the hand	1954	MEGF8
HP:0001155	Abnormality of the hand	81846	SBF2
HP:0001155	Abnormality of the hand	79813	EHMT1
HP:0001155	Abnormality of the hand	2006	ELN
HP:0001155	Abnormality of the hand	51199	NIN
HP:0100737	Abnormality of the hard palate	1123	CHN1
HP:0100737	Abnormality of the hard palate	8318	CDC45
HP:0100737	Abnormality of the hard palate	2189	FANCG
HP:0100737	Abnormality of the hard palate	57492	ARID1B
HP:0100737	Abnormality of the hard palate	7341	SUMO1
HP:0100737	Abnormality of the hard palate	8516	ITGA8
HP:0100737	Abnormality of the hard palate	6496	SIX3
HP:0100737	Abnormality of the hard palate	57697	FANCM
HP:0100737	Abnormality of the hard palate	10617	STAMBP
HP:0100737	Abnormality of the hard palate	4488	MSX2
HP:0100737	Abnormality of the hard palate	9775	EIF4A3
HP:0100737	Abnormality of the hard palate	1605	DAG1
HP:0100737	Abnormality of the hard palate	613	BCR
HP:0100737	Abnormality of the hard palate	6899	TBX1
HP:0100737	Abnormality of the hard palate	126792	B3GALT6
HP:0100737	Abnormality of the hard palate	10084	PQBP1
HP:0100737	Abnormality of the hard palate	1909	EDNRA
HP:0100737	Abnormality of the hard palate	9184	BUB3
HP:0100737	Abnormality of the hard palate	23522	KAT6B
HP:0000234	Abnormality of the head	8318	CDC45
HP:0000234	Abnormality of the head	57492	ARID1B
HP:0000234	Abnormality of the head	4261	CIITA
HP:0000234	Abnormality of the head	8516	ITGA8
HP:0000234	Abnormality of the head	57697	FANCM
HP:0000234	Abnormality of the head	4488	MSX2
HP:0000234	Abnormality of the head	613	BCR
HP:0000234	Abnormality of the head	4729	NDUFV2
HP:0000234	Abnormality of the head	283489	CHAMP1
HP:0000234	Abnormality of the head	9150	CTDP1
HP:0000234	Abnormality of the head	9184	BUB3
HP:0000234	Abnormality of the head	5119	CHMP1A
HP:0000234	Abnormality of the head	5130	PCYT1A
HP:0000234	Abnormality of the head	5148	PDE6G
HP:0000234	Abnormality of the head	1123	CHN1
HP:0000234	Abnormality of the head	9321	TRIP11
HP:0000234	Abnormality of the head	1130	LYST
HP:0000234	Abnormality of the head	9361	LONP1
HP:0000234	Abnormality of the head	9526	MPDU1
HP:0000234	Abnormality of the head	25939	SAMHD1
HP:0000234	Abnormality of the head	30062	RAX
HP:0000234	Abnormality of the head	5506	PPP1R3A
HP:0000234	Abnormality of the head	1414	CRYBB1
HP:0000234	Abnormality of the head	1421	CRYGD
HP:0000234	Abnormality of the head	9652	TTC37
HP:0000234	Abnormality of the head	1536	CYBB
HP:0000234	Abnormality of the head	54820	NDE1
HP:0000234	Abnormality of the head	9775	EIF4A3
HP:0000234	Abnormality of the head	1605	DAG1
HP:0000234	Abnormality of the head	5723	PSPH
HP:0000234	Abnormality of the head	124590	USH1G
HP:0000234	Abnormality of the head	83696	TRAPPC9
HP:0000234	Abnormality of the head	79600	TCTN1
HP:0000234	Abnormality of the head	83737	ITCH
HP:0000234	Abnormality of the head	5932	RBBP8
HP:0000234	Abnormality of the head	1861	TOR1A
HP:0000234	Abnormality of the head	10084	PQBP1
HP:0000234	Abnormality of the head	1908	EDN3
HP:0000234	Abnormality of the head	1909	EDNRA
HP:0000234	Abnormality of the head	1917	EEF1A2
HP:0000234	Abnormality of the head	55180	LINS1
HP:0000234	Abnormality of the head	346007	EYS
HP:0000234	Abnormality of the head	1954	MEGF8
HP:0000234	Abnormality of the head	79813	EHMT1
HP:0000234	Abnormality of the head	2006	ELN
HP:0000234	Abnormality of the head	51199	NIN
HP:0000234	Abnormality of the head	10300	KATNB1
HP:0000234	Abnormality of the head	112752	IFT43
HP:0000234	Abnormality of the head	10370	CITED2
HP:0000234	Abnormality of the head	2189	FANCG
HP:0000234	Abnormality of the head	6295	SAG
HP:0000234	Abnormality of the head	6305	SBF1
HP:0000234	Abnormality of the head	2254	FGF9
HP:0000234	Abnormality of the head	10516	FBLN5
HP:0000234	Abnormality of the head	10518	CIB2
HP:0000234	Abnormality of the head	6496	SIX3
HP:0000234	Abnormality of the head	10617	STAMBP
HP:0000234	Abnormality of the head	6575	SLC20A2
HP:0000234	Abnormality of the head	10682	EBP
HP:0000234	Abnormality of the head	51660	MPC1
HP:0000234	Abnormality of the head	6660	SOX5
HP:0000234	Abnormality of the head	113179	ADAT3
HP:0000234	Abnormality of the head	6736	SRY
HP:0000234	Abnormality of the head	2683	B4GALT1
HP:0000234	Abnormality of the head	10892	MALT1
HP:0000234	Abnormality of the head	2778	GNAS
HP:0000234	Abnormality of the head	64218	SEMA4A
HP:0000234	Abnormality of the head	2799	GNS
HP:0000234	Abnormality of the head	6899	TBX1
HP:0000234	Abnormality of the head	23394	ADNP
HP:0000234	Abnormality of the head	56262	LRRC8A
HP:0000234	Abnormality of the head	7128	TNFAIP3
HP:0000234	Abnormality of the head	23522	KAT6B
HP:0000234	Abnormality of the head	60528	ELAC2
HP:0000234	Abnormality of the head	7341	SUMO1
HP:0000234	Abnormality of the head	3257	HPS1
HP:0000234	Abnormality of the head	7486	WRN
HP:0000234	Abnormality of the head	3426	CFI
HP:0000234	Abnormality of the head	100128927	ZBTB42
HP:0000234	Abnormality of the head	7546	ZIC2
HP:0000234	Abnormality of the head	3561	IL2RG
HP:0000234	Abnormality of the head	7681	MKRN3
HP:0000234	Abnormality of the head	118429	ANTXR2
HP:0000234	Abnormality of the head	3798	KIF5A
HP:0000234	Abnormality of the head	3908	LAMA2
HP:0000234	Abnormality of the head	126792	B3GALT6
HP:0000234	Abnormality of the head	57167	SALL4
HP:0000234	Abnormality of the head	3949	LDLR
HP:0000234	Abnormality of the head	4023	LPL
HP:0011039	Abnormality of the helix	9361	LONP1
HP:0011039	Abnormality of the helix	23522	KAT6B
HP:0011039	Abnormality of the helix	6899	TBX1
HP:0006707	Abnormality of the hepatic vasculature	2006	ELN
HP:0006707	Abnormality of the hepatic vasculature	23534	TNPO3
HP:0003272	Abnormality of the hip bone	7681	MKRN3
HP:0003272	Abnormality of the hip bone	5130	PCYT1A
HP:0003272	Abnormality of the hip bone	9775	EIF4A3
HP:0003272	Abnormality of the hip bone	9321	TRIP11
HP:0003272	Abnormality of the hip bone	2189	FANCG
HP:0003272	Abnormality of the hip bone	9361	LONP1
HP:0003272	Abnormality of the hip bone	57492	ARID1B
HP:0003272	Abnormality of the hip bone	5932	RBBP8
HP:0003272	Abnormality of the hip bone	126792	B3GALT6
HP:0003272	Abnormality of the hip bone	57697	FANCM
HP:0003272	Abnormality of the hip bone	10682	EBP
HP:0003272	Abnormality of the hip bone	23522	KAT6B
HP:0003272	Abnormality of the hip bone	51199	NIN
HP:0001384	Abnormality of the hip joint	9775	EIF4A3
HP:0001384	Abnormality of the hip joint	2189	FANCG
HP:0001384	Abnormality of the hip joint	9361	LONP1
HP:0001384	Abnormality of the hip joint	126792	B3GALT6
HP:0001384	Abnormality of the hip joint	57697	FANCM
HP:0001384	Abnormality of the hip joint	23522	KAT6B
HP:0001445	Abnormality of the hip-girdle musculature	6443	SGCB
HP:0003907	Abnormality of the humeral metaphyses	2778	GNAS
HP:0100744	Abnormality of the humeroradial joint	126792	B3GALT6
HP:0100744	Abnormality of the humeroradial joint	2254	FGF9
HP:0100744	Abnormality of the humeroradial joint	57492	ARID1B
HP:0003063	Abnormality of the humerus	2254	FGF9
HP:0003063	Abnormality of the humerus	57167	SALL4
HP:0003063	Abnormality of the humerus	9361	LONP1
HP:0003063	Abnormality of the humerus	2778	GNAS
HP:0000864	Abnormality of the hypothalamus-pituitary axis	7681	MKRN3
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6736	SRY
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2189	FANCG
HP:0000864	Abnormality of the hypothalamus-pituitary axis	2778	GNAS
HP:0000864	Abnormality of the hypothalamus-pituitary axis	79600	TCTN1
HP:0000864	Abnormality of the hypothalamus-pituitary axis	6496	SIX3
HP:0000864	Abnormality of the hypothalamus-pituitary axis	57697	FANCM
HP:0001549	Abnormality of the ileum	2189	FANCG
HP:0001549	Abnormality of the ileum	57697	FANCM
HP:0002867	Abnormality of the ilium	5130	PCYT1A
HP:0002867	Abnormality of the ilium	9361	LONP1
HP:0002867	Abnormality of the ilium	126792	B3GALT6
HP:0002867	Abnormality of the ilium	23522	KAT6B
HP:0002715	Abnormality of the immune system	2189	FANCG
HP:0002715	Abnormality of the immune system	57492	ARID1B
HP:0002715	Abnormality of the immune system	4261	CIITA
HP:0002715	Abnormality of the immune system	26873	OPLAH
HP:0002715	Abnormality of the immune system	10516	FBLN5
HP:0002715	Abnormality of the immune system	57697	FANCM
HP:0002715	Abnormality of the immune system	29071	C1GALT1C1
HP:0002715	Abnormality of the immune system	80270	HSD3B7
HP:0002715	Abnormality of the immune system	10682	EBP
HP:0002715	Abnormality of the immune system	4594	MUT
HP:0002715	Abnormality of the immune system	4607	MYBPC3
HP:0002715	Abnormality of the immune system	6736	SRY
HP:0002715	Abnormality of the immune system	10841	FTCD
HP:0002715	Abnormality of the immune system	613	BCR
HP:0002715	Abnormality of the immune system	10892	MALT1
HP:0002715	Abnormality of the immune system	730	C7
HP:0002715	Abnormality of the immune system	2778	GNAS
HP:0002715	Abnormality of the immune system	2799	GNS
HP:0002715	Abnormality of the immune system	6899	TBX1
HP:0002715	Abnormality of the immune system	811	CALR
HP:0002715	Abnormality of the immune system	23394	ADNP
HP:0002715	Abnormality of the immune system	283489	CHAMP1
HP:0002715	Abnormality of the immune system	7018	TF
HP:0002715	Abnormality of the immune system	56262	LRRC8A
HP:0002715	Abnormality of the immune system	7128	TNFAIP3
HP:0002715	Abnormality of the immune system	9184	BUB3
HP:0002715	Abnormality of the immune system	23522	KAT6B
HP:0002715	Abnormality of the immune system	23534	TNPO3
HP:0002715	Abnormality of the immune system	5130	PCYT1A
HP:0002715	Abnormality of the immune system	5156	PDGFRA
HP:0002715	Abnormality of the immune system	1130	LYST
HP:0002715	Abnormality of the immune system	3257	HPS1
HP:0002715	Abnormality of the immune system	9526	MPDU1
HP:0002715	Abnormality of the immune system	25913	POT1
HP:0002715	Abnormality of the immune system	3394	IRF8
HP:0002715	Abnormality of the immune system	3426	CFI
HP:0002715	Abnormality of the immune system	3460	IFNGR2
HP:0002715	Abnormality of the immune system	9652	TTC37
HP:0002715	Abnormality of the immune system	3561	IL2RG
HP:0002715	Abnormality of the immune system	1536	CYBB
HP:0002715	Abnormality of the immune system	7681	MKRN3
HP:0002715	Abnormality of the immune system	118429	ANTXR2
HP:0002715	Abnormality of the immune system	83737	ITCH
HP:0002715	Abnormality of the immune system	3908	LAMA2
HP:0002715	Abnormality of the immune system	57167	SALL4
HP:0002715	Abnormality of the immune system	1908	EDN3
HP:0002715	Abnormality of the immune system	6049	RNF6
HP:0002715	Abnormality of the immune system	1954	MEGF8
HP:0002715	Abnormality of the immune system	4023	LPL
HP:0002715	Abnormality of the immune system	79813	EHMT1
HP:0002715	Abnormality of the immune system	2006	ELN
HP:0000676	Abnormality of the incisor	6496	SIX3
HP:0000676	Abnormality of the incisor	9775	EIF4A3
HP:0000359	Abnormality of the inner ear	5148	PDE6G
HP:0000359	Abnormality of the inner ear	1123	CHN1
HP:0000359	Abnormality of the inner ear	9361	LONP1
HP:0000359	Abnormality of the inner ear	57492	ARID1B
HP:0000359	Abnormality of the inner ear	6295	SAG
HP:0000359	Abnormality of the inner ear	10518	CIB2
HP:0000359	Abnormality of the inner ear	10682	EBP
HP:0000359	Abnormality of the inner ear	4607	MYBPC3
HP:0000359	Abnormality of the inner ear	4646	MYO6
HP:0000359	Abnormality of the inner ear	152137	CCDC50
HP:0000359	Abnormality of the inner ear	613	BCR
HP:0000359	Abnormality of the inner ear	4729	NDUFV2
HP:0000359	Abnormality of the inner ear	124590	USH1G
HP:0000359	Abnormality of the inner ear	2778	GNAS
HP:0000359	Abnormality of the inner ear	64218	SEMA4A
HP:0000359	Abnormality of the inner ear	375611	SLC26A5
HP:0000359	Abnormality of the inner ear	57167	SALL4
HP:0000359	Abnormality of the inner ear	1908	EDN3
HP:0000359	Abnormality of the inner ear	346007	EYS
HP:0000359	Abnormality of the inner ear	1954	MEGF8
HP:0000359	Abnormality of the inner ear	81846	SBF2
HP:0000359	Abnormality of the inner ear	2006	ELN
HP:0000359	Abnormality of the inner ear	23522	KAT6B
HP:0001574	Abnormality of the integument	8318	CDC45
HP:0001574	Abnormality of the integument	57492	ARID1B
HP:0001574	Abnormality of the integument	4261	CIITA
HP:0001574	Abnormality of the integument	57609	DIP2B
HP:0001574	Abnormality of the integument	4361	MRE11
HP:0001574	Abnormality of the integument	57697	FANCM
HP:0001574	Abnormality of the integument	53630	BCO1
HP:0001574	Abnormality of the integument	4488	MSX2
HP:0001574	Abnormality of the integument	4607	MYBPC3
HP:0001574	Abnormality of the integument	4645	MYO5B
HP:0001574	Abnormality of the integument	613	BCR
HP:0001574	Abnormality of the integument	811	CALR
HP:0001574	Abnormality of the integument	9150	CTDP1
HP:0001574	Abnormality of the integument	9184	BUB3
HP:0001574	Abnormality of the integument	5119	CHMP1A
HP:0001574	Abnormality of the integument	5148	PDE6G
HP:0001574	Abnormality of the integument	5156	PDGFRA
HP:0001574	Abnormality of the integument	1123	CHN1
HP:0001574	Abnormality of the integument	1130	LYST
HP:0001574	Abnormality of the integument	9526	MPDU1
HP:0001574	Abnormality of the integument	25913	POT1
HP:0001574	Abnormality of the integument	25939	SAMHD1
HP:0001574	Abnormality of the integument	5506	PPP1R3A
HP:0001574	Abnormality of the integument	9652	TTC37
HP:0001574	Abnormality of the integument	1536	CYBB
HP:0001574	Abnormality of the integument	83696	TRAPPC9
HP:0001574	Abnormality of the integument	79600	TCTN1
HP:0001574	Abnormality of the integument	5932	RBBP8
HP:0001574	Abnormality of the integument	10084	PQBP1
HP:0001574	Abnormality of the integument	79719	AAGAB
HP:0001574	Abnormality of the integument	1908	EDN3
HP:0001574	Abnormality of the integument	1909	EDNRA
HP:0001574	Abnormality of the integument	346007	EYS
HP:0001574	Abnormality of the integument	6049	RNF6
HP:0001574	Abnormality of the integument	1954	MEGF8
HP:0001574	Abnormality of the integument	79813	EHMT1
HP:0001574	Abnormality of the integument	2006	ELN
HP:0001574	Abnormality of the integument	112752	IFT43
HP:0001574	Abnormality of the integument	10370	CITED2
HP:0001574	Abnormality of the integument	2189	FANCG
HP:0001574	Abnormality of the integument	6295	SAG
HP:0001574	Abnormality of the integument	2254	FGF9
HP:0001574	Abnormality of the integument	10516	FBLN5
HP:0001574	Abnormality of the integument	22852	ANKRD26
HP:0001574	Abnormality of the integument	10599	SLCO1B1
HP:0001574	Abnormality of the integument	10617	STAMBP
HP:0001574	Abnormality of the integument	80270	HSD3B7
HP:0001574	Abnormality of the integument	6575	SLC20A2
HP:0001574	Abnormality of the integument	10682	EBP
HP:0001574	Abnormality of the integument	2566	GABRG2
HP:0001574	Abnormality of the integument	6736	SRY
HP:0001574	Abnormality of the integument	6768	ST14
HP:0001574	Abnormality of the integument	10892	MALT1
HP:0001574	Abnormality of the integument	2778	GNAS
HP:0001574	Abnormality of the integument	64218	SEMA4A
HP:0001574	Abnormality of the integument	2799	GNS
HP:0001574	Abnormality of the integument	6899	TBX1
HP:0001574	Abnormality of the integument	2934	GSN
HP:0001574	Abnormality of the integument	56246	MRAP
HP:0001574	Abnormality of the integument	56262	LRRC8A
HP:0001574	Abnormality of the integument	7128	TNFAIP3
HP:0001574	Abnormality of the integument	23522	KAT6B
HP:0001574	Abnormality of the integument	23534	TNPO3
HP:0001574	Abnormality of the integument	3242	HPD
HP:0001574	Abnormality of the integument	3257	HPS1
HP:0001574	Abnormality of the integument	7486	WRN
HP:0001574	Abnormality of the integument	3426	CFI
HP:0001574	Abnormality of the integument	7546	ZIC2
HP:0001574	Abnormality of the integument	3561	IL2RG
HP:0001574	Abnormality of the integument	7681	MKRN3
HP:0001574	Abnormality of the integument	343637	RSPO4
HP:0001574	Abnormality of the integument	118429	ANTXR2
HP:0001574	Abnormality of the integument	7957	EPM2A
HP:0001574	Abnormality of the integument	126792	B3GALT6
HP:0001574	Abnormality of the integument	57167	SALL4
HP:0001574	Abnormality of the integument	3949	LDLR
HP:0001574	Abnormality of the integument	4023	LPL
HP:0011384	Abnormality of the internal auditory canal	1123	CHN1
HP:0005108	Abnormality of the intervertebral disk	57492	ARID1B
HP:0002242	Abnormality of the intestine	5156	PDGFRA
HP:0002242	Abnormality of the intestine	8318	CDC45
HP:0002242	Abnormality of the intestine	2189	FANCG
HP:0002242	Abnormality of the intestine	9361	LONP1
HP:0002242	Abnormality of the intestine	57492	ARID1B
HP:0002242	Abnormality of the intestine	4261	CIITA
HP:0002242	Abnormality of the intestine	3257	HPS1
HP:0002242	Abnormality of the intestine	26873	OPLAH
HP:0002242	Abnormality of the intestine	10516	FBLN5
HP:0002242	Abnormality of the intestine	8516	ITGA8
HP:0002242	Abnormality of the intestine	57697	FANCM
HP:0002242	Abnormality of the intestine	80270	HSD3B7
HP:0002242	Abnormality of the intestine	9652	TTC37
HP:0002242	Abnormality of the intestine	1536	CYBB
HP:0002242	Abnormality of the intestine	4645	MYO5B
HP:0002242	Abnormality of the intestine	118429	ANTXR2
HP:0002242	Abnormality of the intestine	2778	GNAS
HP:0002242	Abnormality of the intestine	79600	TCTN1
HP:0002242	Abnormality of the intestine	6899	TBX1
HP:0002242	Abnormality of the intestine	126792	B3GALT6
HP:0002242	Abnormality of the intestine	57167	SALL4
HP:0002242	Abnormality of the intestine	79719	AAGAB
HP:0002242	Abnormality of the intestine	1908	EDN3
HP:0002242	Abnormality of the intestine	51128	SAR1B
HP:0002242	Abnormality of the intestine	56262	LRRC8A
HP:0002242	Abnormality of the intestine	2006	ELN
HP:0002242	Abnormality of the intestine	7128	TNFAIP3
HP:0002242	Abnormality of the intestine	9184	BUB3
HP:0002242	Abnormality of the intestine	23534	TNPO3
HP:0011040	Abnormality of the intrahepatic bile duct	23534	TNPO3
HP:0003174	Abnormality of the ischium	23522	KAT6B
HP:0003174	Abnormality of the ischium	9321	TRIP11
HP:0000077	Abnormality of the kidney	112752	IFT43
HP:0000077	Abnormality of the kidney	2189	FANCG
HP:0000077	Abnormality of the kidney	57492	ARID1B
HP:0000077	Abnormality of the kidney	84189	SLITRK6
HP:0000077	Abnormality of the kidney	57592	ZNF687
HP:0000077	Abnormality of the kidney	26873	OPLAH
HP:0000077	Abnormality of the kidney	10516	FBLN5
HP:0000077	Abnormality of the kidney	8516	ITGA8
HP:0000077	Abnormality of the kidney	57697	FANCM
HP:0000077	Abnormality of the kidney	10682	EBP
HP:0000077	Abnormality of the kidney	4594	MUT
HP:0000077	Abnormality of the kidney	4645	MYO5B
HP:0000077	Abnormality of the kidney	6736	SRY
HP:0000077	Abnormality of the kidney	2778	GNAS
HP:0000077	Abnormality of the kidney	6899	TBX1
HP:0000077	Abnormality of the kidney	64321	SOX17
HP:0000077	Abnormality of the kidney	2934	GSN
HP:0000077	Abnormality of the kidney	9184	BUB3
HP:0000077	Abnormality of the kidney	23522	KAT6B
HP:0000077	Abnormality of the kidney	7225	TRPC6
HP:0000077	Abnormality of the kidney	1123	CHN1
HP:0000077	Abnormality of the kidney	5230	PGK1
HP:0000077	Abnormality of the kidney	3257	HPS1
HP:0000077	Abnormality of the kidney	7486	WRN
HP:0000077	Abnormality of the kidney	3426	CFI
HP:0000077	Abnormality of the kidney	9652	TTC37
HP:0000077	Abnormality of the kidney	3561	IL2RG
HP:0000077	Abnormality of the kidney	5932	RBBP8
HP:0000077	Abnormality of the kidney	57167	SALL4
HP:0000077	Abnormality of the kidney	10084	PQBP1
HP:0000077	Abnormality of the kidney	79719	AAGAB
HP:0000077	Abnormality of the kidney	3949	LDLR
HP:0000077	Abnormality of the kidney	79813	EHMT1
HP:0000077	Abnormality of the kidney	2006	ELN
HP:0002815	Abnormality of the knee	8318	CDC45
HP:0002815	Abnormality of the knee	9361	LONP1
HP:0002815	Abnormality of the knee	57492	ARID1B
HP:0002815	Abnormality of the knee	3798	KIF5A
HP:0002815	Abnormality of the knee	6899	TBX1
HP:0002815	Abnormality of the knee	126792	B3GALT6
HP:0002815	Abnormality of the knee	80208	SPG11
HP:0002815	Abnormality of the knee	1954	MEGF8
HP:0002815	Abnormality of the knee	10682	EBP
HP:0002815	Abnormality of the knee	9150	CTDP1
HP:0002815	Abnormality of the knee	2006	ELN
HP:0002815	Abnormality of the knee	23522	KAT6B
HP:0000058	Abnormality of the labia	7681	MKRN3
HP:0000058	Abnormality of the labia	6736	SRY
HP:0000058	Abnormality of the labia	23522	KAT6B
HP:0000058	Abnormality of the labia	8318	CDC45
HP:0012881	Abnormality of the labia majora	8318	CDC45
HP:0012880	Abnormality of the labia minora	7681	MKRN3
HP:0012880	Abnormality of the labia minora	23522	KAT6B
HP:0012880	Abnormality of the labia minora	8318	CDC45
HP:0002250	Abnormality of the large intestine	1536	CYBB
HP:0002250	Abnormality of the large intestine	5156	PDGFRA
HP:0002250	Abnormality of the large intestine	57167	SALL4
HP:0002250	Abnormality of the large intestine	79719	AAGAB
HP:0002250	Abnormality of the large intestine	9361	LONP1
HP:0002250	Abnormality of the large intestine	4261	CIITA
HP:0002250	Abnormality of the large intestine	3257	HPS1
HP:0002250	Abnormality of the large intestine	2006	ELN
HP:0002250	Abnormality of the large intestine	7128	TNFAIP3
HP:0002250	Abnormality of the large intestine	9184	BUB3
HP:0002250	Abnormality of the large intestine	26873	OPLAH
HP:0001600	Abnormality of the larynx	9775	EIF4A3
HP:0001600	Abnormality of the larynx	7486	WRN
HP:0001600	Abnormality of the larynx	9361	LONP1
HP:0001600	Abnormality of the larynx	2006	ELN
HP:0001600	Abnormality of the larynx	23522	KAT6B
HP:0001600	Abnormality of the larynx	6899	TBX1
HP:0011103	Abnormality of the left ventricular outflow tract	9184	BUB3
HP:0011103	Abnormality of the left ventricular outflow tract	4091	SMAD6
HP:0000517	Abnormality of the lens	5130	PCYT1A
HP:0000517	Abnormality of the lens	5148	PDE6G
HP:0000517	Abnormality of the lens	2189	FANCG
HP:0000517	Abnormality of the lens	9361	LONP1
HP:0000517	Abnormality of the lens	57492	ARID1B
HP:0000517	Abnormality of the lens	6295	SAG
HP:0000517	Abnormality of the lens	10518	CIB2
HP:0000517	Abnormality of the lens	7486	WRN
HP:0000517	Abnormality of the lens	57697	FANCM
HP:0000517	Abnormality of the lens	1414	CRYBB1
HP:0000517	Abnormality of the lens	1421	CRYGD
HP:0000517	Abnormality of the lens	10682	EBP
HP:0000517	Abnormality of the lens	1605	DAG1
HP:0000517	Abnormality of the lens	124590	USH1G
HP:0000517	Abnormality of the lens	2778	GNAS
HP:0000517	Abnormality of the lens	64218	SEMA4A
HP:0000517	Abnormality of the lens	6899	TBX1
HP:0000517	Abnormality of the lens	126792	B3GALT6
HP:0000517	Abnormality of the lens	57167	SALL4
HP:0000517	Abnormality of the lens	10084	PQBP1
HP:0000517	Abnormality of the lens	346007	EYS
HP:0000517	Abnormality of the lens	9150	CTDP1
HP:0000517	Abnormality of the lens	4047	LSS
HP:0000517	Abnormality of the lens	2006	ELN
HP:0000517	Abnormality of the lens	9184	BUB3
HP:0010979	Abnormality of the level of lipoprotein cholesterol	5506	PPP1R3A
HP:0010979	Abnormality of the level of lipoprotein cholesterol	3949	LDLR
HP:0010979	Abnormality of the level of lipoprotein cholesterol	4023	LPL
HP:0010979	Abnormality of the level of lipoprotein cholesterol	51128	SAR1B
HP:0008048	Abnormality of the line of Schwalbe	2006	ELN
HP:0008048	Abnormality of the line of Schwalbe	6899	TBX1
HP:0000159	Abnormality of the lip	1123	CHN1
HP:0000159	Abnormality of the lip	9321	TRIP11
HP:0000159	Abnormality of the lip	112752	IFT43
HP:0000159	Abnormality of the lip	8318	CDC45
HP:0000159	Abnormality of the lip	10370	CITED2
HP:0000159	Abnormality of the lip	57492	ARID1B
HP:0000159	Abnormality of the lip	7341	SUMO1
HP:0000159	Abnormality of the lip	8516	ITGA8
HP:0000159	Abnormality of the lip	6496	SIX3
HP:0000159	Abnormality of the lip	4488	MSX2
HP:0000159	Abnormality of the lip	9652	TTC37
HP:0000159	Abnormality of the lip	51660	MPC1
HP:0000159	Abnormality of the lip	7681	MKRN3
HP:0000159	Abnormality of the lip	613	BCR
HP:0000159	Abnormality of the lip	2799	GNS
HP:0000159	Abnormality of the lip	83696	TRAPPC9
HP:0000159	Abnormality of the lip	6899	TBX1
HP:0000159	Abnormality of the lip	126792	B3GALT6
HP:0000159	Abnormality of the lip	23394	ADNP
HP:0000159	Abnormality of the lip	10084	PQBP1
HP:0000159	Abnormality of the lip	283489	CHAMP1
HP:0000159	Abnormality of the lip	1909	EDNRA
HP:0000159	Abnormality of the lip	1917	EEF1A2
HP:0000159	Abnormality of the lip	79813	EHMT1
HP:0000159	Abnormality of the lip	2006	ELN
HP:0000159	Abnormality of the lip	23522	KAT6B
HP:0001392	Abnormality of the liver	112752	IFT43
HP:0001392	Abnormality of the liver	2189	FANCG
HP:0001392	Abnormality of the liver	4261	CIITA
HP:0001392	Abnormality of the liver	55532	SLC30A10
HP:0001392	Abnormality of the liver	57697	FANCM
HP:0001392	Abnormality of the liver	10599	SLCO1B1
HP:0001392	Abnormality of the liver	80270	HSD3B7
HP:0001392	Abnormality of the liver	410	ARSA
HP:0001392	Abnormality of the liver	6575	SLC20A2
HP:0001392	Abnormality of the liver	445	ASS1
HP:0001392	Abnormality of the liver	51660	MPC1
HP:0001392	Abnormality of the liver	4594	MUT
HP:0001392	Abnormality of the liver	2778	GNAS
HP:0001392	Abnormality of the liver	2799	GNS
HP:0001392	Abnormality of the liver	6899	TBX1
HP:0001392	Abnormality of the liver	7018	TF
HP:0001392	Abnormality of the liver	56262	LRRC8A
HP:0001392	Abnormality of the liver	23522	KAT6B
HP:0001392	Abnormality of the liver	23534	TNPO3
HP:0001392	Abnormality of the liver	5156	PDGFRA
HP:0001392	Abnormality of the liver	1130	LYST
HP:0001392	Abnormality of the liver	9361	LONP1
HP:0001392	Abnormality of the liver	3242	HPD
HP:0001392	Abnormality of the liver	5506	PPP1R3A
HP:0001392	Abnormality of the liver	9652	TTC37
HP:0001392	Abnormality of the liver	3561	IL2RG
HP:0001392	Abnormality of the liver	1536	CYBB
HP:0001392	Abnormality of the liver	56922	MCCC1
HP:0001392	Abnormality of the liver	83737	ITCH
HP:0001392	Abnormality of the liver	3949	LDLR
HP:0001392	Abnormality of the liver	4023	LPL
HP:0001392	Abnormality of the liver	51128	SAR1B
HP:0001392	Abnormality of the liver	2006	ELN
HP:0002814	Abnormality of the lower limb	112752	IFT43
HP:0002814	Abnormality of the lower limb	8318	CDC45
HP:0002814	Abnormality of the lower limb	2189	FANCG
HP:0002814	Abnormality of the lower limb	57492	ARID1B
HP:0002814	Abnormality of the lower limb	6305	SBF1
HP:0002814	Abnormality of the lower limb	2254	FGF9
HP:0002814	Abnormality of the lower limb	10516	FBLN5
HP:0002814	Abnormality of the lower limb	6443	SGCB
HP:0002814	Abnormality of the lower limb	8516	ITGA8
HP:0002814	Abnormality of the lower limb	80208	SPG11
HP:0002814	Abnormality of the lower limb	57697	FANCM
HP:0002814	Abnormality of the lower limb	10682	EBP
HP:0002814	Abnormality of the lower limb	6660	SOX5
HP:0002814	Abnormality of the lower limb	6687	SPG7
HP:0002814	Abnormality of the lower limb	6736	SRY
HP:0002814	Abnormality of the lower limb	613	BCR
HP:0002814	Abnormality of the lower limb	2778	GNAS
HP:0002814	Abnormality of the lower limb	6899	TBX1
HP:0002814	Abnormality of the lower limb	9150	CTDP1
HP:0002814	Abnormality of the lower limb	23522	KAT6B
HP:0002814	Abnormality of the lower limb	5119	CHMP1A
HP:0002814	Abnormality of the lower limb	5130	PCYT1A
HP:0002814	Abnormality of the lower limb	1123	CHN1
HP:0002814	Abnormality of the lower limb	9321	TRIP11
HP:0002814	Abnormality of the lower limb	1130	LYST
HP:0002814	Abnormality of the lower limb	9361	LONP1
HP:0002814	Abnormality of the lower limb	7443	VRK1
HP:0002814	Abnormality of the lower limb	7486	WRN
HP:0002814	Abnormality of the lower limb	3561	IL2RG
HP:0002814	Abnormality of the lower limb	7681	MKRN3
HP:0002814	Abnormality of the lower limb	54820	NDE1
HP:0002814	Abnormality of the lower limb	9775	EIF4A3
HP:0002814	Abnormality of the lower limb	1605	DAG1
HP:0002814	Abnormality of the lower limb	3798	KIF5A
HP:0002814	Abnormality of the lower limb	79600	TCTN1
HP:0002814	Abnormality of the lower limb	5932	RBBP8
HP:0002814	Abnormality of the lower limb	126792	B3GALT6
HP:0002814	Abnormality of the lower limb	57167	SALL4
HP:0002814	Abnormality of the lower limb	10084	PQBP1
HP:0002814	Abnormality of the lower limb	6049	RNF6
HP:0002814	Abnormality of the lower limb	1954	MEGF8
HP:0002814	Abnormality of the lower limb	81846	SBF2
HP:0002814	Abnormality of the lower limb	79813	EHMT1
HP:0002814	Abnormality of the lower limb	2006	ELN
HP:0010936	Abnormality of the lower urinary tract	8318	CDC45
HP:0010936	Abnormality of the lower urinary tract	2189	FANCG
HP:0010936	Abnormality of the lower urinary tract	57492	ARID1B
HP:0010936	Abnormality of the lower urinary tract	6305	SBF1
HP:0010936	Abnormality of the lower urinary tract	10516	FBLN5
HP:0010936	Abnormality of the lower urinary tract	80208	SPG11
HP:0010936	Abnormality of the lower urinary tract	57697	FANCM
HP:0010936	Abnormality of the lower urinary tract	10617	STAMBP
HP:0010936	Abnormality of the lower urinary tract	410	ARSA
HP:0010936	Abnormality of the lower urinary tract	6575	SLC20A2
HP:0010936	Abnormality of the lower urinary tract	6687	SPG7
HP:0010936	Abnormality of the lower urinary tract	6736	SRY
HP:0010936	Abnormality of the lower urinary tract	8913	CACNA1G
HP:0010936	Abnormality of the lower urinary tract	3798	KIF5A
HP:0010936	Abnormality of the lower urinary tract	6899	TBX1
HP:0010936	Abnormality of the lower urinary tract	5932	RBBP8
HP:0010936	Abnormality of the lower urinary tract	64321	SOX17
HP:0010936	Abnormality of the lower urinary tract	57167	SALL4
HP:0010936	Abnormality of the lower urinary tract	10084	PQBP1
HP:0010936	Abnormality of the lower urinary tract	79813	EHMT1
HP:0010936	Abnormality of the lower urinary tract	2006	ELN
HP:0002733	Abnormality of the lymph nodes	1536	CYBB
HP:0002733	Abnormality of the lymph nodes	3394	IRF8
HP:0002733	Abnormality of the lymph nodes	1130	LYST
HP:0002733	Abnormality of the lymph nodes	10892	MALT1
HP:0002733	Abnormality of the lymph nodes	6049	RNF6
HP:0002733	Abnormality of the lymph nodes	3561	IL2RG
HP:0100763	Abnormality of the lymphatic system	5156	PDGFRA
HP:0100763	Abnormality of the lymphatic system	1130	LYST
HP:0100763	Abnormality of the lymphatic system	25913	POT1
HP:0100763	Abnormality of the lymphatic system	3394	IRF8
HP:0100763	Abnormality of the lymphatic system	80270	HSD3B7
HP:0100763	Abnormality of the lymphatic system	3561	IL2RG
HP:0100763	Abnormality of the lymphatic system	4594	MUT
HP:0100763	Abnormality of the lymphatic system	1536	CYBB
HP:0100763	Abnormality of the lymphatic system	613	BCR
HP:0100763	Abnormality of the lymphatic system	10892	MALT1
HP:0100763	Abnormality of the lymphatic system	118429	ANTXR2
HP:0100763	Abnormality of the lymphatic system	2799	GNS
HP:0100763	Abnormality of the lymphatic system	6899	TBX1
HP:0100763	Abnormality of the lymphatic system	83737	ITCH
HP:0100763	Abnormality of the lymphatic system	811	CALR
HP:0100763	Abnormality of the lymphatic system	6049	RNF6
HP:0100763	Abnormality of the lymphatic system	1954	MEGF8
HP:0100763	Abnormality of the lymphatic system	4023	LPL
HP:0100763	Abnormality of the lymphatic system	23522	KAT6B
HP:0010461	Abnormality of the male genitalia	8287	USP9Y
HP:0010461	Abnormality of the male genitalia	8318	CDC45
HP:0010461	Abnormality of the male genitalia	10370	CITED2
HP:0010461	Abnormality of the male genitalia	2189	FANCG
HP:0010461	Abnormality of the male genitalia	57492	ARID1B
HP:0010461	Abnormality of the male genitalia	6295	SAG
HP:0010461	Abnormality of the male genitalia	4361	MRE11
HP:0010461	Abnormality of the male genitalia	57697	FANCM
HP:0010461	Abnormality of the male genitalia	10682	EBP
HP:0010461	Abnormality of the male genitalia	6736	SRY
HP:0010461	Abnormality of the male genitalia	2778	GNAS
HP:0010461	Abnormality of the male genitalia	64218	SEMA4A
HP:0010461	Abnormality of the male genitalia	6899	TBX1
HP:0010461	Abnormality of the male genitalia	9150	CTDP1
HP:0010461	Abnormality of the male genitalia	23522	KAT6B
HP:0010461	Abnormality of the male genitalia	5148	PDE6G
HP:0010461	Abnormality of the male genitalia	9361	LONP1
HP:0010461	Abnormality of the male genitalia	7486	WRN
HP:0010461	Abnormality of the male genitalia	7681	MKRN3
HP:0010461	Abnormality of the male genitalia	1605	DAG1
HP:0010461	Abnormality of the male genitalia	5932	RBBP8
HP:0010461	Abnormality of the male genitalia	126792	B3GALT6
HP:0010461	Abnormality of the male genitalia	10084	PQBP1
HP:0010461	Abnormality of the male genitalia	346007	EYS
HP:0010461	Abnormality of the male genitalia	1954	MEGF8
HP:0010461	Abnormality of the male genitalia	79813	EHMT1
HP:0010461	Abnormality of the male genitalia	2006	ELN
HP:0000277	Abnormality of the mandible	1123	CHN1
HP:0000277	Abnormality of the mandible	9321	TRIP11
HP:0000277	Abnormality of the mandible	112752	IFT43
HP:0000277	Abnormality of the mandible	8318	CDC45
HP:0000277	Abnormality of the mandible	2189	FANCG
HP:0000277	Abnormality of the mandible	57492	ARID1B
HP:0000277	Abnormality of the mandible	7341	SUMO1
HP:0000277	Abnormality of the mandible	8516	ITGA8
HP:0000277	Abnormality of the mandible	57697	FANCM
HP:0000277	Abnormality of the mandible	10682	EBP
HP:0000277	Abnormality of the mandible	9775	EIF4A3
HP:0000277	Abnormality of the mandible	6736	SRY
HP:0000277	Abnormality of the mandible	2778	GNAS
HP:0000277	Abnormality of the mandible	6899	TBX1
HP:0000277	Abnormality of the mandible	5932	RBBP8
HP:0000277	Abnormality of the mandible	3908	LAMA2
HP:0000277	Abnormality of the mandible	126792	B3GALT6
HP:0000277	Abnormality of the mandible	10084	PQBP1
HP:0000277	Abnormality of the mandible	1909	EDNRA
HP:0000277	Abnormality of the mandible	1954	MEGF8
HP:0000277	Abnormality of the mandible	9150	CTDP1
HP:0000277	Abnormality of the mandible	79813	EHMT1
HP:0000277	Abnormality of the mandible	2006	ELN
HP:0000277	Abnormality of the mandible	9184	BUB3
HP:0000277	Abnormality of the mandible	23522	KAT6B
HP:0000326	Abnormality of the maxilla	6660	SOX5
HP:0000326	Abnormality of the maxilla	1909	EDNRA
HP:0000326	Abnormality of the maxilla	10617	STAMBP
HP:0000326	Abnormality of the maxilla	8318	CDC45
HP:0000326	Abnormality of the maxilla	7341	SUMO1
HP:0045026	Abnormality of the mediastinum	1536	CYBB
HP:0045026	Abnormality of the mediastinum	10892	MALT1
HP:0010651	Abnormality of the meninges	2006	ELN
HP:0010651	Abnormality of the meninges	6899	TBX1
HP:0000140	Abnormality of the menstrual cycle	7681	MKRN3
HP:0000140	Abnormality of the menstrual cycle	7486	WRN
HP:0000140	Abnormality of the menstrual cycle	8516	ITGA8
HP:0000140	Abnormality of the menstrual cycle	6736	SRY
HP:0000140	Abnormality of the menstrual cycle	5506	PPP1R3A
HP:0000140	Abnormality of the menstrual cycle	9150	CTDP1
HP:0000140	Abnormality of the menstrual cycle	2778	GNAS
HP:0000140	Abnormality of the menstrual cycle	51199	NIN
HP:0001163	Abnormality of the metacarpal bones	5130	PCYT1A
HP:0001163	Abnormality of the metacarpal bones	9775	EIF4A3
HP:0001163	Abnormality of the metacarpal bones	126792	B3GALT6
HP:0001163	Abnormality of the metacarpal bones	57167	SALL4
HP:0001163	Abnormality of the metacarpal bones	6736	SRY
HP:0001163	Abnormality of the metacarpal bones	9361	LONP1
HP:0001163	Abnormality of the metacarpal bones	57492	ARID1B
HP:0001163	Abnormality of the metacarpal bones	2254	FGF9
HP:0001163	Abnormality of the metacarpal bones	2778	GNAS
HP:0000944	Abnormality of the metaphysis	5130	PCYT1A
HP:0000944	Abnormality of the metaphysis	126792	B3GALT6
HP:0000944	Abnormality of the metaphysis	9321	TRIP11
HP:0000944	Abnormality of the metaphysis	112752	IFT43
HP:0000944	Abnormality of the metaphysis	9361	LONP1
HP:0000944	Abnormality of the metaphysis	2778	GNAS
HP:0000944	Abnormality of the metaphysis	3561	IL2RG
HP:0001832	Abnormality of the metatarsal bones	1605	DAG1
HP:0001832	Abnormality of the metatarsal bones	126792	B3GALT6
HP:0001832	Abnormality of the metatarsal bones	6736	SRY
HP:0001832	Abnormality of the metatarsal bones	2254	FGF9
HP:0001832	Abnormality of the metatarsal bones	2778	GNAS
HP:0011283	Abnormality of the metencephalon	8318	CDC45
HP:0011283	Abnormality of the metencephalon	57492	ARID1B
HP:0011283	Abnormality of the metencephalon	4361	MRE11
HP:0011283	Abnormality of the metencephalon	10518	CIB2
HP:0011283	Abnormality of the metencephalon	80208	SPG11
HP:0011283	Abnormality of the metencephalon	6496	SIX3
HP:0011283	Abnormality of the metencephalon	410	ARSA
HP:0011283	Abnormality of the metencephalon	6575	SLC20A2
HP:0011283	Abnormality of the metencephalon	10682	EBP
HP:0011283	Abnormality of the metencephalon	445	ASS1
HP:0011283	Abnormality of the metencephalon	2566	GABRG2
HP:0011283	Abnormality of the metencephalon	6687	SPG7
HP:0011283	Abnormality of the metencephalon	4729	NDUFV2
HP:0011283	Abnormality of the metencephalon	2683	B4GALT1
HP:0011283	Abnormality of the metencephalon	8913	CACNA1G
HP:0011283	Abnormality of the metencephalon	283489	CHAMP1
HP:0011283	Abnormality of the metencephalon	9150	CTDP1
HP:0011283	Abnormality of the metencephalon	9184	BUB3
HP:0011283	Abnormality of the metencephalon	5119	CHMP1A
HP:0011283	Abnormality of the metencephalon	5130	PCYT1A
HP:0011283	Abnormality of the metencephalon	1130	LYST
HP:0011283	Abnormality of the metencephalon	5230	PGK1
HP:0011283	Abnormality of the metencephalon	1181	CLCN2
HP:0011283	Abnormality of the metencephalon	7443	VRK1
HP:0011283	Abnormality of the metencephalon	9526	MPDU1
HP:0011283	Abnormality of the metencephalon	54820	NDE1
HP:0011283	Abnormality of the metencephalon	1605	DAG1
HP:0011283	Abnormality of the metencephalon	124590	USH1G
HP:0011283	Abnormality of the metencephalon	3798	KIF5A
HP:0011283	Abnormality of the metencephalon	83696	TRAPPC9
HP:0011283	Abnormality of the metencephalon	79600	TCTN1
HP:0011283	Abnormality of the metencephalon	5932	RBBP8
HP:0011283	Abnormality of the metencephalon	3908	LAMA2
HP:0011283	Abnormality of the metencephalon	255928	SYT14
HP:0011283	Abnormality of the metencephalon	2006	ELN
HP:0000370	Abnormality of the middle ear	1536	CYBB
HP:0000370	Abnormality of the middle ear	5130	PCYT1A
HP:0000370	Abnormality of the middle ear	5148	PDE6G
HP:0000370	Abnormality of the middle ear	6736	SRY
HP:0000370	Abnormality of the middle ear	6295	SAG
HP:0000370	Abnormality of the middle ear	2254	FGF9
HP:0000370	Abnormality of the middle ear	64218	SEMA4A
HP:0000370	Abnormality of the middle ear	84189	SLITRK6
HP:0000370	Abnormality of the middle ear	6899	TBX1
HP:0000370	Abnormality of the middle ear	57167	SALL4
HP:0000370	Abnormality of the middle ear	3426	CFI
HP:0000370	Abnormality of the middle ear	1909	EDNRA
HP:0000370	Abnormality of the middle ear	346007	EYS
HP:0000370	Abnormality of the middle ear	56262	LRRC8A
HP:0000370	Abnormality of the middle ear	2006	ELN
HP:0000370	Abnormality of the middle ear	3561	IL2RG
HP:0009833	Abnormality of the middle phalanges of the hand	1954	MEGF8
HP:0009833	Abnormality of the middle phalanges of the hand	5932	RBBP8
HP:0004219	Abnormality of the middle phalanx of the 5th finger	5932	RBBP8
HP:0000309	Abnormality of the midface	1123	CHN1
HP:0000309	Abnormality of the midface	613	BCR
HP:0000309	Abnormality of the midface	10370	CITED2
HP:0000309	Abnormality of the midface	57492	ARID1B
HP:0000309	Abnormality of the midface	2778	GNAS
HP:0000309	Abnormality of the midface	6899	TBX1
HP:0000309	Abnormality of the midface	10516	FBLN5
HP:0000309	Abnormality of the midface	126792	B3GALT6
HP:0000309	Abnormality of the midface	6496	SIX3
HP:0000309	Abnormality of the midface	10084	PQBP1
HP:0000309	Abnormality of the midface	1909	EDNRA
HP:0000309	Abnormality of the midface	55180	LINS1
HP:0000309	Abnormality of the midface	1954	MEGF8
HP:0000309	Abnormality of the midface	10682	EBP
HP:0000309	Abnormality of the midface	9150	CTDP1
HP:0000309	Abnormality of the midface	79813	EHMT1
HP:0000309	Abnormality of the midface	2006	ELN
HP:0000309	Abnormality of the midface	23522	KAT6B
HP:0012103	Abnormality of the mitochondrion	1536	CYBB
HP:0012103	Abnormality of the mitochondrion	4729	NDUFV2
HP:0000153	Abnormality of the mouth	112752	IFT43
HP:0000153	Abnormality of the mouth	8318	CDC45
HP:0000153	Abnormality of the mouth	10370	CITED2
HP:0000153	Abnormality of the mouth	2189	FANCG
HP:0000153	Abnormality of the mouth	57492	ARID1B
HP:0000153	Abnormality of the mouth	10518	CIB2
HP:0000153	Abnormality of the mouth	8516	ITGA8
HP:0000153	Abnormality of the mouth	6496	SIX3
HP:0000153	Abnormality of the mouth	57697	FANCM
HP:0000153	Abnormality of the mouth	10617	STAMBP
HP:0000153	Abnormality of the mouth	4488	MSX2
HP:0000153	Abnormality of the mouth	10682	EBP
HP:0000153	Abnormality of the mouth	51660	MPC1
HP:0000153	Abnormality of the mouth	6660	SOX5
HP:0000153	Abnormality of the mouth	6736	SRY
HP:0000153	Abnormality of the mouth	613	BCR
HP:0000153	Abnormality of the mouth	2778	GNAS
HP:0000153	Abnormality of the mouth	2799	GNS
HP:0000153	Abnormality of the mouth	6899	TBX1
HP:0000153	Abnormality of the mouth	23394	ADNP
HP:0000153	Abnormality of the mouth	283489	CHAMP1
HP:0000153	Abnormality of the mouth	9150	CTDP1
HP:0000153	Abnormality of the mouth	56262	LRRC8A
HP:0000153	Abnormality of the mouth	7128	TNFAIP3
HP:0000153	Abnormality of the mouth	9184	BUB3
HP:0000153	Abnormality of the mouth	23522	KAT6B
HP:0000153	Abnormality of the mouth	5130	PCYT1A
HP:0000153	Abnormality of the mouth	1123	CHN1
HP:0000153	Abnormality of the mouth	9321	TRIP11
HP:0000153	Abnormality of the mouth	1130	LYST
HP:0000153	Abnormality of the mouth	9361	LONP1
HP:0000153	Abnormality of the mouth	7341	SUMO1
HP:0000153	Abnormality of the mouth	3257	HPS1
HP:0000153	Abnormality of the mouth	7486	WRN
HP:0000153	Abnormality of the mouth	7546	ZIC2
HP:0000153	Abnormality of the mouth	9652	TTC37
HP:0000153	Abnormality of the mouth	1536	CYBB
HP:0000153	Abnormality of the mouth	7681	MKRN3
HP:0000153	Abnormality of the mouth	9775	EIF4A3
HP:0000153	Abnormality of the mouth	1605	DAG1
HP:0000153	Abnormality of the mouth	118429	ANTXR2
HP:0000153	Abnormality of the mouth	124590	USH1G
HP:0000153	Abnormality of the mouth	83696	TRAPPC9
HP:0000153	Abnormality of the mouth	79600	TCTN1
HP:0000153	Abnormality of the mouth	5932	RBBP8
HP:0000153	Abnormality of the mouth	3908	LAMA2
HP:0000153	Abnormality of the mouth	126792	B3GALT6
HP:0000153	Abnormality of the mouth	10084	PQBP1
HP:0000153	Abnormality of the mouth	1908	EDN3
HP:0000153	Abnormality of the mouth	1909	EDNRA
HP:0000153	Abnormality of the mouth	1917	EEF1A2
HP:0000153	Abnormality of the mouth	1954	MEGF8
HP:0000153	Abnormality of the mouth	79813	EHMT1
HP:0000153	Abnormality of the mouth	2006	ELN
HP:0003011	Abnormality of the musculature	8318	CDC45
HP:0003011	Abnormality of the musculature	57492	ARID1B
HP:0003011	Abnormality of the musculature	4361	MRE11
HP:0003011	Abnormality of the musculature	288	ANK3
HP:0003011	Abnormality of the musculature	410	ARSA
HP:0003011	Abnormality of the musculature	4594	MUT
HP:0003011	Abnormality of the musculature	4607	MYBPC3
HP:0003011	Abnormality of the musculature	613	BCR
HP:0003011	Abnormality of the musculature	4729	NDUFV2
HP:0003011	Abnormality of the musculature	8913	CACNA1G
HP:0003011	Abnormality of the musculature	283489	CHAMP1
HP:0003011	Abnormality of the musculature	9150	CTDP1
HP:0003011	Abnormality of the musculature	9184	BUB3
HP:0003011	Abnormality of the musculature	5119	CHMP1A
HP:0003011	Abnormality of the musculature	5130	PCYT1A
HP:0003011	Abnormality of the musculature	1123	CHN1
HP:0003011	Abnormality of the musculature	1130	LYST
HP:0003011	Abnormality of the musculature	5230	PGK1
HP:0003011	Abnormality of the musculature	9361	LONP1
HP:0003011	Abnormality of the musculature	9526	MPDU1
HP:0003011	Abnormality of the musculature	25939	SAMHD1
HP:0003011	Abnormality of the musculature	79188	TMEM43
HP:0003011	Abnormality of the musculature	5506	PPP1R3A
HP:0003011	Abnormality of the musculature	54820	NDE1
HP:0003011	Abnormality of the musculature	1605	DAG1
HP:0003011	Abnormality of the musculature	5723	PSPH
HP:0003011	Abnormality of the musculature	83696	TRAPPC9
HP:0003011	Abnormality of the musculature	79600	TCTN1
HP:0003011	Abnormality of the musculature	9997	SCO2
HP:0003011	Abnormality of the musculature	83737	ITCH
HP:0003011	Abnormality of the musculature	1861	TOR1A
HP:0003011	Abnormality of the musculature	10084	PQBP1
HP:0003011	Abnormality of the musculature	1908	EDN3
HP:0003011	Abnormality of the musculature	1917	EEF1A2
HP:0003011	Abnormality of the musculature	55180	LINS1
HP:0003011	Abnormality of the musculature	1954	MEGF8
HP:0003011	Abnormality of the musculature	51128	SAR1B
HP:0003011	Abnormality of the musculature	79813	EHMT1
HP:0003011	Abnormality of the musculature	2006	ELN
HP:0003011	Abnormality of the musculature	10300	KATNB1
HP:0003011	Abnormality of the musculature	55532	SLC30A10
HP:0003011	Abnormality of the musculature	10516	FBLN5
HP:0003011	Abnormality of the musculature	6443	SGCB
HP:0003011	Abnormality of the musculature	80208	SPG11
HP:0003011	Abnormality of the musculature	6496	SIX3
HP:0003011	Abnormality of the musculature	10617	STAMBP
HP:0003011	Abnormality of the musculature	6531	SLC6A3
HP:0003011	Abnormality of the musculature	10682	EBP
HP:0003011	Abnormality of the musculature	51660	MPC1
HP:0003011	Abnormality of the musculature	6660	SOX5
HP:0003011	Abnormality of the musculature	2566	GABRG2
HP:0003011	Abnormality of the musculature	113179	ADAT3
HP:0003011	Abnormality of the musculature	6687	SPG7
HP:0003011	Abnormality of the musculature	6736	SRY
HP:0003011	Abnormality of the musculature	2683	B4GALT1
HP:0003011	Abnormality of the musculature	2778	GNAS
HP:0003011	Abnormality of the musculature	2799	GNS
HP:0003011	Abnormality of the musculature	6899	TBX1
HP:0003011	Abnormality of the musculature	23394	ADNP
HP:0003011	Abnormality of the musculature	2934	GSN
HP:0003011	Abnormality of the musculature	23417	MLYCD
HP:0003011	Abnormality of the musculature	23522	KAT6B
HP:0003011	Abnormality of the musculature	60528	ELAC2
HP:0003011	Abnormality of the musculature	3242	HPD
HP:0003011	Abnormality of the musculature	7443	VRK1
HP:0003011	Abnormality of the musculature	7486	WRN
HP:0003011	Abnormality of the musculature	100128927	ZBTB42
HP:0003011	Abnormality of the musculature	7681	MKRN3
HP:0003011	Abnormality of the musculature	56922	MCCC1
HP:0003011	Abnormality of the musculature	118429	ANTXR2
HP:0003011	Abnormality of the musculature	3798	KIF5A
HP:0003011	Abnormality of the musculature	3908	LAMA2
HP:0003011	Abnormality of the musculature	126792	B3GALT6
HP:0003011	Abnormality of the musculature	57167	SALL4
HP:0003011	Abnormality of the musculature	81846	SBF2
HP:0001421	Abnormality of the musculature of the hand	57167	SALL4
HP:0001421	Abnormality of the musculature of the hand	80208	SPG11
HP:0009127	Abnormality of the musculature of the limbs	6687	SPG7
HP:0009127	Abnormality of the musculature of the limbs	10300	KATNB1
HP:0009127	Abnormality of the musculature of the limbs	1605	DAG1
HP:0009127	Abnormality of the musculature of the limbs	6736	SRY
HP:0009127	Abnormality of the musculature of the limbs	1130	LYST
HP:0009127	Abnormality of the musculature of the limbs	3798	KIF5A
HP:0009127	Abnormality of the musculature of the limbs	6443	SGCB
HP:0009127	Abnormality of the musculature of the limbs	57167	SALL4
HP:0009127	Abnormality of the musculature of the limbs	80208	SPG11
HP:0009127	Abnormality of the musculature of the limbs	81846	SBF2
HP:0001437	Abnormality of the musculature of the lower limbs	6443	SGCB
HP:0001437	Abnormality of the musculature of the lower limbs	81846	SBF2
HP:0001437	Abnormality of the musculature of the lower limbs	6736	SRY
HP:0001437	Abnormality of the musculature of the lower limbs	80208	SPG11
HP:0001437	Abnormality of the musculature of the lower limbs	1130	LYST
HP:0011006	Abnormality of the musculature of the neck	1861	TOR1A
HP:0011006	Abnormality of the musculature of the neck	79188	TMEM43
HP:0001469	Abnormality of the musculature of the pelvis	6443	SGCB
HP:0009131	Abnormality of the musculature of the thorax	57167	SALL4
HP:0001446	Abnormality of the musculature of the upper limbs	6443	SGCB
HP:0001446	Abnormality of the musculature of the upper limbs	57167	SALL4
HP:0001446	Abnormality of the musculature of the upper limbs	80208	SPG11
HP:0001597	Abnormality of the nail	6736	SRY
HP:0001597	Abnormality of the nail	343637	RSPO4
HP:0001597	Abnormality of the nail	613	BCR
HP:0001597	Abnormality of the nail	112752	IFT43
HP:0001597	Abnormality of the nail	57492	ARID1B
HP:0001597	Abnormality of the nail	2254	FGF9
HP:0001597	Abnormality of the nail	126792	B3GALT6
HP:0001597	Abnormality of the nail	10084	PQBP1
HP:0001597	Abnormality of the nail	79719	AAGAB
HP:0001597	Abnormality of the nail	10617	STAMBP
HP:0001597	Abnormality of the nail	10682	EBP
HP:0001597	Abnormality of the nail	2006	ELN
HP:0005288	Abnormality of the nares	5148	PDE6G
HP:0005288	Abnormality of the nares	1123	CHN1
HP:0005288	Abnormality of the nares	9321	TRIP11
HP:0005288	Abnormality of the nares	112752	IFT43
HP:0005288	Abnormality of the nares	9361	LONP1
HP:0005288	Abnormality of the nares	57492	ARID1B
HP:0005288	Abnormality of the nares	6295	SAG
HP:0005288	Abnormality of the nares	64218	SEMA4A
HP:0005288	Abnormality of the nares	2799	GNS
HP:0005288	Abnormality of the nares	79600	TCTN1
HP:0005288	Abnormality of the nares	346007	EYS
HP:0005288	Abnormality of the nares	1954	MEGF8
HP:0005288	Abnormality of the nares	9652	TTC37
HP:0005288	Abnormality of the nares	79813	EHMT1
HP:0005288	Abnormality of the nares	2006	ELN
HP:0000429	Abnormality of the nasal alae	5148	PDE6G
HP:0000429	Abnormality of the nasal alae	1123	CHN1
HP:0000429	Abnormality of the nasal alae	9321	TRIP11
HP:0000429	Abnormality of the nasal alae	112752	IFT43
HP:0000429	Abnormality of the nasal alae	9361	LONP1
HP:0000429	Abnormality of the nasal alae	57492	ARID1B
HP:0000429	Abnormality of the nasal alae	6295	SAG
HP:0000429	Abnormality of the nasal alae	9652	TTC37
HP:0000429	Abnormality of the nasal alae	613	BCR
HP:0000429	Abnormality of the nasal alae	64218	SEMA4A
HP:0000429	Abnormality of the nasal alae	2799	GNS
HP:0000429	Abnormality of the nasal alae	79600	TCTN1
HP:0000429	Abnormality of the nasal alae	6899	TBX1
HP:0000429	Abnormality of the nasal alae	1908	EDN3
HP:0000429	Abnormality of the nasal alae	346007	EYS
HP:0000429	Abnormality of the nasal alae	1954	MEGF8
HP:0000429	Abnormality of the nasal alae	79813	EHMT1
HP:0000429	Abnormality of the nasal alae	2006	ELN
HP:0010939	Abnormality of the nasal bone	124590	USH1G
HP:0000422	Abnormality of the nasal bridge	5148	PDE6G
HP:0000422	Abnormality of the nasal bridge	1123	CHN1
HP:0000422	Abnormality of the nasal bridge	9321	TRIP11
HP:0000422	Abnormality of the nasal bridge	9361	LONP1
HP:0000422	Abnormality of the nasal bridge	57492	ARID1B
HP:0000422	Abnormality of the nasal bridge	6295	SAG
HP:0000422	Abnormality of the nasal bridge	7546	ZIC2
HP:0000422	Abnormality of the nasal bridge	10682	EBP
HP:0000422	Abnormality of the nasal bridge	7681	MKRN3
HP:0000422	Abnormality of the nasal bridge	6660	SOX5
HP:0000422	Abnormality of the nasal bridge	54820	NDE1
HP:0000422	Abnormality of the nasal bridge	613	BCR
HP:0000422	Abnormality of the nasal bridge	2778	GNAS
HP:0000422	Abnormality of the nasal bridge	64218	SEMA4A
HP:0000422	Abnormality of the nasal bridge	2799	GNS
HP:0000422	Abnormality of the nasal bridge	83696	TRAPPC9
HP:0000422	Abnormality of the nasal bridge	79600	TCTN1
HP:0000422	Abnormality of the nasal bridge	6899	TBX1
HP:0000422	Abnormality of the nasal bridge	126792	B3GALT6
HP:0000422	Abnormality of the nasal bridge	23394	ADNP
HP:0000422	Abnormality of the nasal bridge	10084	PQBP1
HP:0000422	Abnormality of the nasal bridge	1908	EDN3
HP:0000422	Abnormality of the nasal bridge	1909	EDNRA
HP:0000422	Abnormality of the nasal bridge	1917	EEF1A2
HP:0000422	Abnormality of the nasal bridge	55180	LINS1
HP:0000422	Abnormality of the nasal bridge	346007	EYS
HP:0000422	Abnormality of the nasal bridge	1954	MEGF8
HP:0000422	Abnormality of the nasal bridge	2006	ELN
HP:0000422	Abnormality of the nasal bridge	23522	KAT6B
HP:0011119	Abnormality of the nasal dorsum	5932	RBBP8
HP:0011119	Abnormality of the nasal dorsum	7486	WRN
HP:0011119	Abnormality of the nasal dorsum	8516	ITGA8
HP:0011119	Abnormality of the nasal dorsum	57492	ARID1B
HP:0011119	Abnormality of the nasal dorsum	9652	TTC37
HP:0011119	Abnormality of the nasal dorsum	10682	EBP
HP:0011119	Abnormality of the nasal dorsum	9184	BUB3
HP:0011119	Abnormality of the nasal dorsum	6899	TBX1
HP:0000419	Abnormality of the nasal septum	6496	SIX3
HP:0010937	Abnormality of the nasal skeleton	6496	SIX3
HP:0010937	Abnormality of the nasal skeleton	124590	USH1G
HP:0000436	Abnormality of the nasal tip	6660	SOX5
HP:0000436	Abnormality of the nasal tip	10084	PQBP1
HP:0000436	Abnormality of the nasal tip	57492	ARID1B
HP:0000436	Abnormality of the nasal tip	2006	ELN
HP:0000436	Abnormality of the nasal tip	23522	KAT6B
HP:0000436	Abnormality of the nasal tip	6899	TBX1
HP:0001739	Abnormality of the nasopharynx	57167	SALL4
HP:0001739	Abnormality of the nasopharynx	3426	CFI
HP:0001739	Abnormality of the nasopharynx	4261	CIITA
HP:0001739	Abnormality of the nasopharynx	3561	IL2RG
HP:0001739	Abnormality of the nasopharynx	2799	GNS
HP:0000464	Abnormality of the neck	1123	CHN1
HP:0000464	Abnormality of the neck	9321	TRIP11
HP:0000464	Abnormality of the neck	79188	TMEM43
HP:0000464	Abnormality of the neck	5506	PPP1R3A
HP:0000464	Abnormality of the neck	10682	EBP
HP:0000464	Abnormality of the neck	6736	SRY
HP:0000464	Abnormality of the neck	613	BCR
HP:0000464	Abnormality of the neck	118429	ANTXR2
HP:0000464	Abnormality of the neck	2778	GNAS
HP:0000464	Abnormality of the neck	2799	GNS
HP:0000464	Abnormality of the neck	83696	TRAPPC9
HP:0000464	Abnormality of the neck	6899	TBX1
HP:0000464	Abnormality of the neck	1861	TOR1A
HP:0000464	Abnormality of the neck	126792	B3GALT6
HP:0000464	Abnormality of the neck	1954	MEGF8
HP:0000464	Abnormality of the neck	2006	ELN
HP:0000464	Abnormality of the neck	23522	KAT6B
HP:0012575	Abnormality of the nephron	7225	TRPC6
HP:0012575	Abnormality of the nephron	3426	CFI
HP:0012575	Abnormality of the nephron	2006	ELN
HP:0012575	Abnormality of the nephron	4594	MUT
HP:0000707	Abnormality of the nervous system	8318	CDC45
HP:0000707	Abnormality of the nervous system	57492	ARID1B
HP:0000707	Abnormality of the nervous system	4261	CIITA
HP:0000707	Abnormality of the nervous system	186	AGTR2
HP:0000707	Abnormality of the nervous system	57609	DIP2B
HP:0000707	Abnormality of the nervous system	4361	MRE11
HP:0000707	Abnormality of the nervous system	288	ANK3
HP:0000707	Abnormality of the nervous system	57697	FANCM
HP:0000707	Abnormality of the nervous system	4488	MSX2
HP:0000707	Abnormality of the nervous system	410	ARSA
HP:0000707	Abnormality of the nervous system	445	ASS1
HP:0000707	Abnormality of the nervous system	4594	MUT
HP:0000707	Abnormality of the nervous system	4645	MYO5B
HP:0000707	Abnormality of the nervous system	613	BCR
HP:0000707	Abnormality of the nervous system	4729	NDUFV2
HP:0000707	Abnormality of the nervous system	8913	CACNA1G
HP:0000707	Abnormality of the nervous system	811	CALR
HP:0000707	Abnormality of the nervous system	283489	CHAMP1
HP:0000707	Abnormality of the nervous system	9150	CTDP1
HP:0000707	Abnormality of the nervous system	9184	BUB3
HP:0000707	Abnormality of the nervous system	5119	CHMP1A
HP:0000707	Abnormality of the nervous system	5130	PCYT1A
HP:0000707	Abnormality of the nervous system	5148	PDE6G
HP:0000707	Abnormality of the nervous system	5156	PDGFRA
HP:0000707	Abnormality of the nervous system	1123	CHN1
HP:0000707	Abnormality of the nervous system	1130	LYST
HP:0000707	Abnormality of the nervous system	5230	PGK1
HP:0000707	Abnormality of the nervous system	9361	LONP1
HP:0000707	Abnormality of the nervous system	1181	CLCN2
HP:0000707	Abnormality of the nervous system	9526	MPDU1
HP:0000707	Abnormality of the nervous system	25913	POT1
HP:0000707	Abnormality of the nervous system	25939	SAMHD1
HP:0000707	Abnormality of the nervous system	9652	TTC37
HP:0000707	Abnormality of the nervous system	1536	CYBB
HP:0000707	Abnormality of the nervous system	54820	NDE1
HP:0000707	Abnormality of the nervous system	9775	EIF4A3
HP:0000707	Abnormality of the nervous system	1605	DAG1
HP:0000707	Abnormality of the nervous system	5723	PSPH
HP:0000707	Abnormality of the nervous system	124590	USH1G
HP:0000707	Abnormality of the nervous system	83696	TRAPPC9
HP:0000707	Abnormality of the nervous system	79600	TCTN1
HP:0000707	Abnormality of the nervous system	9997	SCO2
HP:0000707	Abnormality of the nervous system	83737	ITCH
HP:0000707	Abnormality of the nervous system	5932	RBBP8
HP:0000707	Abnormality of the nervous system	1861	TOR1A
HP:0000707	Abnormality of the nervous system	10084	PQBP1
HP:0000707	Abnormality of the nervous system	1908	EDN3
HP:0000707	Abnormality of the nervous system	1917	EEF1A2
HP:0000707	Abnormality of the nervous system	55180	LINS1
HP:0000707	Abnormality of the nervous system	346007	EYS
HP:0000707	Abnormality of the nervous system	1954	MEGF8
HP:0000707	Abnormality of the nervous system	51128	SAR1B
HP:0000707	Abnormality of the nervous system	255928	SYT14
HP:0000707	Abnormality of the nervous system	79813	EHMT1
HP:0000707	Abnormality of the nervous system	2006	ELN
HP:0000707	Abnormality of the nervous system	51199	NIN
HP:0000707	Abnormality of the nervous system	10300	KATNB1
HP:0000707	Abnormality of the nervous system	2189	FANCG
HP:0000707	Abnormality of the nervous system	6295	SAG
HP:0000707	Abnormality of the nervous system	6305	SBF1
HP:0000707	Abnormality of the nervous system	84189	SLITRK6
HP:0000707	Abnormality of the nervous system	55532	SLC30A10
HP:0000707	Abnormality of the nervous system	10516	FBLN5
HP:0000707	Abnormality of the nervous system	10518	CIB2
HP:0000707	Abnormality of the nervous system	80208	SPG11
HP:0000707	Abnormality of the nervous system	6496	SIX3
HP:0000707	Abnormality of the nervous system	10617	STAMBP
HP:0000707	Abnormality of the nervous system	6531	SLC6A3
HP:0000707	Abnormality of the nervous system	80270	HSD3B7
HP:0000707	Abnormality of the nervous system	6575	SLC20A2
HP:0000707	Abnormality of the nervous system	10682	EBP
HP:0000707	Abnormality of the nervous system	51660	MPC1
HP:0000707	Abnormality of the nervous system	6660	SOX5
HP:0000707	Abnormality of the nervous system	2566	GABRG2
HP:0000707	Abnormality of the nervous system	113179	ADAT3
HP:0000707	Abnormality of the nervous system	6687	SPG7
HP:0000707	Abnormality of the nervous system	6736	SRY
HP:0000707	Abnormality of the nervous system	10841	FTCD
HP:0000707	Abnormality of the nervous system	2683	B4GALT1
HP:0000707	Abnormality of the nervous system	27286	SRPX2
HP:0000707	Abnormality of the nervous system	2778	GNAS
HP:0000707	Abnormality of the nervous system	64218	SEMA4A
HP:0000707	Abnormality of the nervous system	2799	GNS
HP:0000707	Abnormality of the nervous system	6899	TBX1
HP:0000707	Abnormality of the nervous system	23394	ADNP
HP:0000707	Abnormality of the nervous system	2934	GSN
HP:0000707	Abnormality of the nervous system	23417	MLYCD
HP:0000707	Abnormality of the nervous system	56262	LRRC8A
HP:0000707	Abnormality of the nervous system	23522	KAT6B
HP:0000707	Abnormality of the nervous system	23534	TNPO3
HP:0000707	Abnormality of the nervous system	60528	ELAC2
HP:0000707	Abnormality of the nervous system	3242	HPD
HP:0000707	Abnormality of the nervous system	7443	VRK1
HP:0000707	Abnormality of the nervous system	7486	WRN
HP:0000707	Abnormality of the nervous system	3426	CFI
HP:0000707	Abnormality of the nervous system	7546	ZIC2
HP:0000707	Abnormality of the nervous system	3561	IL2RG
HP:0000707	Abnormality of the nervous system	7681	MKRN3
HP:0000707	Abnormality of the nervous system	56922	MCCC1
HP:0000707	Abnormality of the nervous system	3798	KIF5A
HP:0000707	Abnormality of the nervous system	7957	EPM2A
HP:0000707	Abnormality of the nervous system	3908	LAMA2
HP:0000707	Abnormality of the nervous system	126792	B3GALT6
HP:0000707	Abnormality of the nervous system	57167	SALL4
HP:0000707	Abnormality of the nervous system	3949	LDLR
HP:0000707	Abnormality of the nervous system	81846	SBF2
HP:0000366	Abnormality of the nose	112752	IFT43
HP:0000366	Abnormality of the nose	8318	CDC45
HP:0000366	Abnormality of the nose	10370	CITED2
HP:0000366	Abnormality of the nose	2189	FANCG
HP:0000366	Abnormality of the nose	57492	ARID1B
HP:0000366	Abnormality of the nose	6295	SAG
HP:0000366	Abnormality of the nose	4261	CIITA
HP:0000366	Abnormality of the nose	8516	ITGA8
HP:0000366	Abnormality of the nose	6496	SIX3
HP:0000366	Abnormality of the nose	57697	FANCM
HP:0000366	Abnormality of the nose	10617	STAMBP
HP:0000366	Abnormality of the nose	10682	EBP
HP:0000366	Abnormality of the nose	6660	SOX5
HP:0000366	Abnormality of the nose	613	BCR
HP:0000366	Abnormality of the nose	2778	GNAS
HP:0000366	Abnormality of the nose	64218	SEMA4A
HP:0000366	Abnormality of the nose	2799	GNS
HP:0000366	Abnormality of the nose	6899	TBX1
HP:0000366	Abnormality of the nose	23394	ADNP
HP:0000366	Abnormality of the nose	9184	BUB3
HP:0000366	Abnormality of the nose	23522	KAT6B
HP:0000366	Abnormality of the nose	5148	PDE6G
HP:0000366	Abnormality of the nose	1123	CHN1
HP:0000366	Abnormality of the nose	9321	TRIP11
HP:0000366	Abnormality of the nose	1130	LYST
HP:0000366	Abnormality of the nose	9361	LONP1
HP:0000366	Abnormality of the nose	3257	HPS1
HP:0000366	Abnormality of the nose	7486	WRN
HP:0000366	Abnormality of the nose	3426	CFI
HP:0000366	Abnormality of the nose	7546	ZIC2
HP:0000366	Abnormality of the nose	9652	TTC37
HP:0000366	Abnormality of the nose	3561	IL2RG
HP:0000366	Abnormality of the nose	7681	MKRN3
HP:0000366	Abnormality of the nose	54820	NDE1
HP:0000366	Abnormality of the nose	9775	EIF4A3
HP:0000366	Abnormality of the nose	124590	USH1G
HP:0000366	Abnormality of the nose	83696	TRAPPC9
HP:0000366	Abnormality of the nose	79600	TCTN1
HP:0000366	Abnormality of the nose	5932	RBBP8
HP:0000366	Abnormality of the nose	126792	B3GALT6
HP:0000366	Abnormality of the nose	57167	SALL4
HP:0000366	Abnormality of the nose	10084	PQBP1
HP:0000366	Abnormality of the nose	1908	EDN3
HP:0000366	Abnormality of the nose	1909	EDNRA
HP:0000366	Abnormality of the nose	1917	EEF1A2
HP:0000366	Abnormality of the nose	55180	LINS1
HP:0000366	Abnormality of the nose	346007	EYS
HP:0000366	Abnormality of the nose	1954	MEGF8
HP:0000366	Abnormality of the nose	79813	EHMT1
HP:0000366	Abnormality of the nose	2006	ELN
HP:0000366	Abnormality of the nose	51199	NIN
HP:0003310	Abnormality of the odontoid process	9361	LONP1
HP:0012795	Abnormality of the optic disc	5130	PCYT1A
HP:0012795	Abnormality of the optic disc	5148	PDE6G
HP:0012795	Abnormality of the optic disc	6295	SAG
HP:0012795	Abnormality of the optic disc	9526	MPDU1
HP:0012795	Abnormality of the optic disc	10617	STAMBP
HP:0012795	Abnormality of the optic disc	410	ARSA
HP:0012795	Abnormality of the optic disc	10682	EBP
HP:0012795	Abnormality of the optic disc	4594	MUT
HP:0012795	Abnormality of the optic disc	6660	SOX5
HP:0012795	Abnormality of the optic disc	6687	SPG7
HP:0012795	Abnormality of the optic disc	1605	DAG1
HP:0012795	Abnormality of the optic disc	4729	NDUFV2
HP:0012795	Abnormality of the optic disc	2778	GNAS
HP:0012795	Abnormality of the optic disc	64218	SEMA4A
HP:0012795	Abnormality of the optic disc	6899	TBX1
HP:0012795	Abnormality of the optic disc	346007	EYS
HP:0000587	Abnormality of the optic nerve	5130	PCYT1A
HP:0000587	Abnormality of the optic nerve	5148	PDE6G
HP:0000587	Abnormality of the optic nerve	1123	CHN1
HP:0000587	Abnormality of the optic nerve	6295	SAG
HP:0000587	Abnormality of the optic nerve	1181	CLCN2
HP:0000587	Abnormality of the optic nerve	9526	MPDU1
HP:0000587	Abnormality of the optic nerve	10617	STAMBP
HP:0000587	Abnormality of the optic nerve	410	ARSA
HP:0000587	Abnormality of the optic nerve	10682	EBP
HP:0000587	Abnormality of the optic nerve	4594	MUT
HP:0000587	Abnormality of the optic nerve	6660	SOX5
HP:0000587	Abnormality of the optic nerve	6687	SPG7
HP:0000587	Abnormality of the optic nerve	1605	DAG1
HP:0000587	Abnormality of the optic nerve	4729	NDUFV2
HP:0000587	Abnormality of the optic nerve	2778	GNAS
HP:0000587	Abnormality of the optic nerve	64218	SEMA4A
HP:0000587	Abnormality of the optic nerve	6899	TBX1
HP:0000587	Abnormality of the optic nerve	57167	SALL4
HP:0000587	Abnormality of the optic nerve	3949	LDLR
HP:0000587	Abnormality of the optic nerve	346007	EYS
HP:0000163	Abnormality of the oral cavity	112752	IFT43
HP:0000163	Abnormality of the oral cavity	8318	CDC45
HP:0000163	Abnormality of the oral cavity	2189	FANCG
HP:0000163	Abnormality of the oral cavity	57492	ARID1B
HP:0000163	Abnormality of the oral cavity	10518	CIB2
HP:0000163	Abnormality of the oral cavity	8516	ITGA8
HP:0000163	Abnormality of the oral cavity	6496	SIX3
HP:0000163	Abnormality of the oral cavity	57697	FANCM
HP:0000163	Abnormality of the oral cavity	10617	STAMBP
HP:0000163	Abnormality of the oral cavity	4488	MSX2
HP:0000163	Abnormality of the oral cavity	10682	EBP
HP:0000163	Abnormality of the oral cavity	6660	SOX5
HP:0000163	Abnormality of the oral cavity	6736	SRY
HP:0000163	Abnormality of the oral cavity	613	BCR
HP:0000163	Abnormality of the oral cavity	2778	GNAS
HP:0000163	Abnormality of the oral cavity	2799	GNS
HP:0000163	Abnormality of the oral cavity	6899	TBX1
HP:0000163	Abnormality of the oral cavity	283489	CHAMP1
HP:0000163	Abnormality of the oral cavity	9150	CTDP1
HP:0000163	Abnormality of the oral cavity	56262	LRRC8A
HP:0000163	Abnormality of the oral cavity	7128	TNFAIP3
HP:0000163	Abnormality of the oral cavity	9184	BUB3
HP:0000163	Abnormality of the oral cavity	23522	KAT6B
HP:0000163	Abnormality of the oral cavity	5130	PCYT1A
HP:0000163	Abnormality of the oral cavity	1123	CHN1
HP:0000163	Abnormality of the oral cavity	1130	LYST
HP:0000163	Abnormality of the oral cavity	9361	LONP1
HP:0000163	Abnormality of the oral cavity	7341	SUMO1
HP:0000163	Abnormality of the oral cavity	3257	HPS1
HP:0000163	Abnormality of the oral cavity	7486	WRN
HP:0000163	Abnormality of the oral cavity	7546	ZIC2
HP:0000163	Abnormality of the oral cavity	9652	TTC37
HP:0000163	Abnormality of the oral cavity	1536	CYBB
HP:0000163	Abnormality of the oral cavity	7681	MKRN3
HP:0000163	Abnormality of the oral cavity	9775	EIF4A3
HP:0000163	Abnormality of the oral cavity	1605	DAG1
HP:0000163	Abnormality of the oral cavity	118429	ANTXR2
HP:0000163	Abnormality of the oral cavity	124590	USH1G
HP:0000163	Abnormality of the oral cavity	5932	RBBP8
HP:0000163	Abnormality of the oral cavity	3908	LAMA2
HP:0000163	Abnormality of the oral cavity	126792	B3GALT6
HP:0000163	Abnormality of the oral cavity	10084	PQBP1
HP:0000163	Abnormality of the oral cavity	1909	EDNRA
HP:0000163	Abnormality of the oral cavity	1954	MEGF8
HP:0000163	Abnormality of the oral cavity	79813	EHMT1
HP:0000163	Abnormality of the oral cavity	2006	ELN
HP:0000315	Abnormality of the orbital region	112752	IFT43
HP:0000315	Abnormality of the orbital region	8318	CDC45
HP:0000315	Abnormality of the orbital region	10370	CITED2
HP:0000315	Abnormality of the orbital region	2189	FANCG
HP:0000315	Abnormality of the orbital region	57492	ARID1B
HP:0000315	Abnormality of the orbital region	10516	FBLN5
HP:0000315	Abnormality of the orbital region	8516	ITGA8
HP:0000315	Abnormality of the orbital region	6496	SIX3
HP:0000315	Abnormality of the orbital region	57697	FANCM
HP:0000315	Abnormality of the orbital region	10617	STAMBP
HP:0000315	Abnormality of the orbital region	4488	MSX2
HP:0000315	Abnormality of the orbital region	10682	EBP
HP:0000315	Abnormality of the orbital region	51660	MPC1
HP:0000315	Abnormality of the orbital region	6660	SOX5
HP:0000315	Abnormality of the orbital region	6736	SRY
HP:0000315	Abnormality of the orbital region	613	BCR
HP:0000315	Abnormality of the orbital region	10892	MALT1
HP:0000315	Abnormality of the orbital region	2778	GNAS
HP:0000315	Abnormality of the orbital region	2799	GNS
HP:0000315	Abnormality of the orbital region	6899	TBX1
HP:0000315	Abnormality of the orbital region	23394	ADNP
HP:0000315	Abnormality of the orbital region	283489	CHAMP1
HP:0000315	Abnormality of the orbital region	9150	CTDP1
HP:0000315	Abnormality of the orbital region	56262	LRRC8A
HP:0000315	Abnormality of the orbital region	9184	BUB3
HP:0000315	Abnormality of the orbital region	23522	KAT6B
HP:0000315	Abnormality of the orbital region	1123	CHN1
HP:0000315	Abnormality of the orbital region	9361	LONP1
HP:0000315	Abnormality of the orbital region	25939	SAMHD1
HP:0000315	Abnormality of the orbital region	30062	RAX
HP:0000315	Abnormality of the orbital region	7546	ZIC2
HP:0000315	Abnormality of the orbital region	1414	CRYBB1
HP:0000315	Abnormality of the orbital region	1421	CRYGD
HP:0000315	Abnormality of the orbital region	9652	TTC37
HP:0000315	Abnormality of the orbital region	3561	IL2RG
HP:0000315	Abnormality of the orbital region	7681	MKRN3
HP:0000315	Abnormality of the orbital region	54820	NDE1
HP:0000315	Abnormality of the orbital region	1605	DAG1
HP:0000315	Abnormality of the orbital region	83696	TRAPPC9
HP:0000315	Abnormality of the orbital region	79600	TCTN1
HP:0000315	Abnormality of the orbital region	83737	ITCH
HP:0000315	Abnormality of the orbital region	5932	RBBP8
HP:0000315	Abnormality of the orbital region	1861	TOR1A
HP:0000315	Abnormality of the orbital region	126792	B3GALT6
HP:0000315	Abnormality of the orbital region	57167	SALL4
HP:0000315	Abnormality of the orbital region	10084	PQBP1
HP:0000315	Abnormality of the orbital region	3949	LDLR
HP:0000315	Abnormality of the orbital region	1908	EDN3
HP:0000315	Abnormality of the orbital region	1909	EDNRA
HP:0000315	Abnormality of the orbital region	1917	EEF1A2
HP:0000315	Abnormality of the orbital region	1954	MEGF8
HP:0000315	Abnormality of the orbital region	4023	LPL
HP:0000315	Abnormality of the orbital region	79813	EHMT1
HP:0000315	Abnormality of the orbital region	2006	ELN
HP:0000315	Abnormality of the orbital region	51199	NIN
HP:0000356	Abnormality of the outer ear	1123	CHN1
HP:0000356	Abnormality of the outer ear	8318	CDC45
HP:0000356	Abnormality of the outer ear	2189	FANCG
HP:0000356	Abnormality of the outer ear	9361	LONP1
HP:0000356	Abnormality of the outer ear	57492	ARID1B
HP:0000356	Abnormality of the outer ear	8516	ITGA8
HP:0000356	Abnormality of the outer ear	57697	FANCM
HP:0000356	Abnormality of the outer ear	10617	STAMBP
HP:0000356	Abnormality of the outer ear	7546	ZIC2
HP:0000356	Abnormality of the outer ear	4488	MSX2
HP:0000356	Abnormality of the outer ear	9652	TTC37
HP:0000356	Abnormality of the outer ear	10682	EBP
HP:0000356	Abnormality of the outer ear	6660	SOX5
HP:0000356	Abnormality of the outer ear	54820	NDE1
HP:0000356	Abnormality of the outer ear	9775	EIF4A3
HP:0000356	Abnormality of the outer ear	1605	DAG1
HP:0000356	Abnormality of the outer ear	6736	SRY
HP:0000356	Abnormality of the outer ear	613	BCR
HP:0000356	Abnormality of the outer ear	2799	GNS
HP:0000356	Abnormality of the outer ear	83696	TRAPPC9
HP:0000356	Abnormality of the outer ear	79600	TCTN1
HP:0000356	Abnormality of the outer ear	6899	TBX1
HP:0000356	Abnormality of the outer ear	83737	ITCH
HP:0000356	Abnormality of the outer ear	5932	RBBP8
HP:0000356	Abnormality of the outer ear	57167	SALL4
HP:0000356	Abnormality of the outer ear	10084	PQBP1
HP:0000356	Abnormality of the outer ear	283489	CHAMP1
HP:0000356	Abnormality of the outer ear	1908	EDN3
HP:0000356	Abnormality of the outer ear	1909	EDNRA
HP:0000356	Abnormality of the outer ear	1917	EEF1A2
HP:0000356	Abnormality of the outer ear	1954	MEGF8
HP:0000356	Abnormality of the outer ear	79813	EHMT1
HP:0000356	Abnormality of the outer ear	56262	LRRC8A
HP:0000356	Abnormality of the outer ear	2006	ELN
HP:0000356	Abnormality of the outer ear	9184	BUB3
HP:0000356	Abnormality of the outer ear	23522	KAT6B
HP:0000356	Abnormality of the outer ear	51199	NIN
HP:0000137	Abnormality of the ovary	6736	SRY
HP:0000137	Abnormality of the ovary	118429	ANTXR2
HP:0000137	Abnormality of the ovary	2778	GNAS
HP:0000137	Abnormality of the ovary	4361	MRE11
HP:0000137	Abnormality of the ovary	7486	WRN
HP:0000137	Abnormality of the ovary	5506	PPP1R3A
HP:0000137	Abnormality of the ovary	2006	ELN
HP:0000174	Abnormality of the palate	1123	CHN1
HP:0000174	Abnormality of the palate	8318	CDC45
HP:0000174	Abnormality of the palate	2189	FANCG
HP:0000174	Abnormality of the palate	57492	ARID1B
HP:0000174	Abnormality of the palate	7341	SUMO1
HP:0000174	Abnormality of the palate	8516	ITGA8
HP:0000174	Abnormality of the palate	6496	SIX3
HP:0000174	Abnormality of the palate	57697	FANCM
HP:0000174	Abnormality of the palate	10617	STAMBP
HP:0000174	Abnormality of the palate	7546	ZIC2
HP:0000174	Abnormality of the palate	4488	MSX2
HP:0000174	Abnormality of the palate	9652	TTC37
HP:0000174	Abnormality of the palate	10682	EBP
HP:0000174	Abnormality of the palate	6660	SOX5
HP:0000174	Abnormality of the palate	9775	EIF4A3
HP:0000174	Abnormality of the palate	1605	DAG1
HP:0000174	Abnormality of the palate	6736	SRY
HP:0000174	Abnormality of the palate	613	BCR
HP:0000174	Abnormality of the palate	2778	GNAS
HP:0000174	Abnormality of the palate	6899	TBX1
HP:0000174	Abnormality of the palate	126792	B3GALT6
HP:0000174	Abnormality of the palate	10084	PQBP1
HP:0000174	Abnormality of the palate	283489	CHAMP1
HP:0000174	Abnormality of the palate	1909	EDNRA
HP:0000174	Abnormality of the palate	1954	MEGF8
HP:0000174	Abnormality of the palate	56262	LRRC8A
HP:0000174	Abnormality of the palate	2006	ELN
HP:0000174	Abnormality of the palate	9184	BUB3
HP:0000174	Abnormality of the palate	23522	KAT6B
HP:0100871	Abnormality of the palm	7681	MKRN3
HP:0100871	Abnormality of the palm	5130	PCYT1A
HP:0100871	Abnormality of the palm	613	BCR
HP:0100871	Abnormality of the palm	9321	TRIP11
HP:0100871	Abnormality of the palm	57492	ARID1B
HP:0100871	Abnormality of the palm	118429	ANTXR2
HP:0100871	Abnormality of the palm	2254	FGF9
HP:0100871	Abnormality of the palm	126792	B3GALT6
HP:0100871	Abnormality of the palm	79813	EHMT1
HP:0100871	Abnormality of the palm	23522	KAT6B
HP:0010490	Abnormality of the palmar creases	57492	ARID1B
HP:0010490	Abnormality of the palmar creases	79813	EHMT1
HP:0010490	Abnormality of the palmar creases	2254	FGF9
HP:0010490	Abnormality of the palmar creases	23522	KAT6B
HP:0008050	Abnormality of the palpebral fissures	1123	CHN1
HP:0008050	Abnormality of the palpebral fissures	2189	FANCG
HP:0008050	Abnormality of the palpebral fissures	57492	ARID1B
HP:0008050	Abnormality of the palpebral fissures	57697	FANCM
HP:0008050	Abnormality of the palpebral fissures	7546	ZIC2
HP:0008050	Abnormality of the palpebral fissures	9652	TTC37
HP:0008050	Abnormality of the palpebral fissures	10682	EBP
HP:0008050	Abnormality of the palpebral fissures	7681	MKRN3
HP:0008050	Abnormality of the palpebral fissures	6660	SOX5
HP:0008050	Abnormality of the palpebral fissures	613	BCR
HP:0008050	Abnormality of the palpebral fissures	6899	TBX1
HP:0008050	Abnormality of the palpebral fissures	5932	RBBP8
HP:0008050	Abnormality of the palpebral fissures	57167	SALL4
HP:0008050	Abnormality of the palpebral fissures	23394	ADNP
HP:0008050	Abnormality of the palpebral fissures	10084	PQBP1
HP:0008050	Abnormality of the palpebral fissures	283489	CHAMP1
HP:0008050	Abnormality of the palpebral fissures	1908	EDN3
HP:0008050	Abnormality of the palpebral fissures	1917	EEF1A2
HP:0008050	Abnormality of the palpebral fissures	1954	MEGF8
HP:0008050	Abnormality of the palpebral fissures	79813	EHMT1
HP:0008050	Abnormality of the palpebral fissures	2006	ELN
HP:0008050	Abnormality of the palpebral fissures	9184	BUB3
HP:0008050	Abnormality of the palpebral fissures	23522	KAT6B
HP:0001732	Abnormality of the pancreas	4361	MRE11
HP:0001732	Abnormality of the pancreas	25913	POT1
HP:0001732	Abnormality of the pancreas	79719	AAGAB
HP:0001732	Abnormality of the pancreas	7018	TF
HP:0001732	Abnormality of the pancreas	9652	TTC37
HP:0001732	Abnormality of the pancreas	4023	LPL
HP:0001732	Abnormality of the pancreas	4594	MUT
HP:0000245	Abnormality of the paranasal sinuses	1536	CYBB
HP:0000245	Abnormality of the paranasal sinuses	56262	LRRC8A
HP:0000245	Abnormality of the paranasal sinuses	3426	CFI
HP:0000245	Abnormality of the paranasal sinuses	3561	IL2RG
HP:0000828	Abnormality of the parathyroid gland	2778	GNAS
HP:0000828	Abnormality of the parathyroid gland	6899	TBX1
HP:0011766	Abnormality of the parathyroid morphology	6899	TBX1
HP:0011767	Abnormality of the parathyroid physiology	2778	GNAS
HP:0011767	Abnormality of the parathyroid physiology	6899	TBX1
HP:0002696	Abnormality of the parietal bone	4488	MSX2
HP:0003045	Abnormality of the patella	57492	ARID1B
HP:0003045	Abnormality of the patella	10682	EBP
HP:0003045	Abnormality of the patella	2006	ELN
HP:0003045	Abnormality of the patella	23522	KAT6B
HP:0003045	Abnormality of the patella	6899	TBX1
HP:0003045	Abnormality of the patella	8318	CDC45
HP:0011957	Abnormality of the pectoral muscle	57167	SALL4
HP:0000036	Abnormality of the penis	5148	PDE6G
HP:0000036	Abnormality of the penis	8318	CDC45
HP:0000036	Abnormality of the penis	2189	FANCG
HP:0000036	Abnormality of the penis	57492	ARID1B
HP:0000036	Abnormality of the penis	6295	SAG
HP:0000036	Abnormality of the penis	57697	FANCM
HP:0000036	Abnormality of the penis	7681	MKRN3
HP:0000036	Abnormality of the penis	1605	DAG1
HP:0000036	Abnormality of the penis	6736	SRY
HP:0000036	Abnormality of the penis	2778	GNAS
HP:0000036	Abnormality of the penis	64218	SEMA4A
HP:0000036	Abnormality of the penis	6899	TBX1
HP:0000036	Abnormality of the penis	5932	RBBP8
HP:0000036	Abnormality of the penis	10084	PQBP1
HP:0000036	Abnormality of the penis	346007	EYS
HP:0000036	Abnormality of the penis	1954	MEGF8
HP:0000036	Abnormality of the penis	79813	EHMT1
HP:0000036	Abnormality of the penis	2006	ELN
HP:0000036	Abnormality of the penis	23522	KAT6B
HP:0000606	Abnormality of the periorbital region	8318	CDC45
HP:0000606	Abnormality of the periorbital region	10370	CITED2
HP:0000606	Abnormality of the periorbital region	57492	ARID1B
HP:0000606	Abnormality of the periorbital region	7546	ZIC2
HP:0000606	Abnormality of the periorbital region	9652	TTC37
HP:0000606	Abnormality of the periorbital region	10682	EBP
HP:0000606	Abnormality of the periorbital region	3561	IL2RG
HP:0000606	Abnormality of the periorbital region	613	BCR
HP:0000606	Abnormality of the periorbital region	2799	GNS
HP:0000606	Abnormality of the periorbital region	83696	TRAPPC9
HP:0000606	Abnormality of the periorbital region	79600	TCTN1
HP:0000606	Abnormality of the periorbital region	126792	B3GALT6
HP:0000606	Abnormality of the periorbital region	10084	PQBP1
HP:0000606	Abnormality of the periorbital region	1908	EDN3
HP:0000606	Abnormality of the periorbital region	1909	EDNRA
HP:0000606	Abnormality of the periorbital region	1954	MEGF8
HP:0000606	Abnormality of the periorbital region	79813	EHMT1
HP:0000606	Abnormality of the periorbital region	2006	ELN
HP:0410008	Abnormality of the peripheral nervous system	126792	B3GALT6
HP:0410008	Abnormality of the peripheral nervous system	57167	SALL4
HP:0410008	Abnormality of the peripheral nervous system	57697	FANCM
HP:0410008	Abnormality of the peripheral nervous system	1908	EDN3
HP:0410008	Abnormality of the peripheral nervous system	2189	FANCG
HP:0410008	Abnormality of the peripheral nervous system	23534	TNPO3
HP:0410008	Abnormality of the peripheral nervous system	79600	TCTN1
HP:0410008	Abnormality of the peripheral nervous system	6899	TBX1
HP:0002518	Abnormality of the periventricular white matter	80208	SPG11
HP:0004213	Abnormality of the phalanges of the 5th finger	57492	ARID1B
HP:0004213	Abnormality of the phalanges of the 5th finger	5932	RBBP8
HP:0010342	Abnormality of the phalanges of the 5th toe	57492	ARID1B
HP:0010057	Abnormality of the phalanges of the hallux	57167	SALL4
HP:0010161	Abnormality of the phalanges of the toes	2189	FANCG
HP:0010161	Abnormality of the phalanges of the toes	57492	ARID1B
HP:0010161	Abnormality of the phalanges of the toes	57167	SALL4
HP:0010161	Abnormality of the phalanges of the toes	57697	FANCM
HP:0000600	Abnormality of the pharynx	57167	SALL4
HP:0000600	Abnormality of the pharynx	3426	CFI
HP:0000600	Abnormality of the pharynx	4261	CIITA
HP:0000600	Abnormality of the pharynx	3561	IL2RG
HP:0000600	Abnormality of the pharynx	2799	GNS
HP:0000600	Abnormality of the pharynx	6899	TBX1
HP:0000288	Abnormality of the philtrum	613	BCR
HP:0000288	Abnormality of the philtrum	9321	TRIP11
HP:0000288	Abnormality of the philtrum	57492	ARID1B
HP:0000288	Abnormality of the philtrum	83696	TRAPPC9
HP:0000288	Abnormality of the philtrum	6899	TBX1
HP:0000288	Abnormality of the philtrum	126792	B3GALT6
HP:0000288	Abnormality of the philtrum	23394	ADNP
HP:0000288	Abnormality of the philtrum	10084	PQBP1
HP:0000288	Abnormality of the philtrum	283489	CHAMP1
HP:0000288	Abnormality of the philtrum	9652	TTC37
HP:0000288	Abnormality of the philtrum	51660	MPC1
HP:0000288	Abnormality of the philtrum	2006	ELN
HP:0000288	Abnormality of the philtrum	23522	KAT6B
HP:0000377	Abnormality of the pinna	8318	CDC45
HP:0000377	Abnormality of the pinna	9361	LONP1
HP:0000377	Abnormality of the pinna	57492	ARID1B
HP:0000377	Abnormality of the pinna	7546	ZIC2
HP:0000377	Abnormality of the pinna	4488	MSX2
HP:0000377	Abnormality of the pinna	9652	TTC37
HP:0000377	Abnormality of the pinna	10682	EBP
HP:0000377	Abnormality of the pinna	54820	NDE1
HP:0000377	Abnormality of the pinna	9775	EIF4A3
HP:0000377	Abnormality of the pinna	1605	DAG1
HP:0000377	Abnormality of the pinna	613	BCR
HP:0000377	Abnormality of the pinna	83696	TRAPPC9
HP:0000377	Abnormality of the pinna	6899	TBX1
HP:0000377	Abnormality of the pinna	5932	RBBP8
HP:0000377	Abnormality of the pinna	10084	PQBP1
HP:0000377	Abnormality of the pinna	1909	EDNRA
HP:0000377	Abnormality of the pinna	1954	MEGF8
HP:0000377	Abnormality of the pinna	79813	EHMT1
HP:0000377	Abnormality of the pinna	2006	ELN
HP:0000377	Abnormality of the pinna	23522	KAT6B
HP:0000377	Abnormality of the pinna	51199	NIN
HP:0012503	Abnormality of the pituitary gland	7681	MKRN3
HP:0012503	Abnormality of the pituitary gland	6736	SRY
HP:0012503	Abnormality of the pituitary gland	2778	GNAS
HP:0012503	Abnormality of the pituitary gland	6496	SIX3
HP:0100767	Abnormality of the placenta	9652	TTC37
HP:0100872	Abnormality of the plantar skin of foot	126792	B3GALT6
HP:0007361	Abnormality of the pons	7443	VRK1
HP:0000932	Abnormality of the posterior cranial fossa	1605	DAG1
HP:0000932	Abnormality of the posterior cranial fossa	2683	B4GALT1
HP:0000932	Abnormality of the posterior cranial fossa	57492	ARID1B
HP:0000932	Abnormality of the posterior cranial fossa	10682	EBP
HP:0000932	Abnormality of the posterior cranial fossa	9184	BUB3
HP:0030141	Abnormality of the posterior hairline	6736	SRY
HP:0030141	Abnormality of the posterior hairline	23522	KAT6B
HP:0030141	Abnormality of the posterior hairline	1123	CHN1
HP:0100587	Abnormality of the preputium	2189	FANCG
HP:0100587	Abnormality of the preputium	57697	FANCM
HP:0100587	Abnormality of the preputium	10084	PQBP1
HP:0008775	Abnormality of the prostate	4361	MRE11
HP:0009834	Abnormality of the proximal phalanges of the hand	2778	GNAS
HP:0003172	Abnormality of the pubic bone	23522	KAT6B
HP:0100133	Abnormality of the pubic hair	6736	SRY
HP:0004414	Abnormality of the pulmonary artery	78987	CRELD1
HP:0004414	Abnormality of the pulmonary artery	7486	WRN
HP:0004414	Abnormality of the pulmonary artery	2006	ELN
HP:0004414	Abnormality of the pulmonary artery	23522	KAT6B
HP:0004414	Abnormality of the pulmonary artery	112752	IFT43
HP:0004930	Abnormality of the pulmonary vasculature	7486	WRN
HP:0004930	Abnormality of the pulmonary vasculature	112752	IFT43
HP:0004930	Abnormality of the pulmonary vasculature	78987	CRELD1
HP:0004930	Abnormality of the pulmonary vasculature	2006	ELN
HP:0004930	Abnormality of the pulmonary vasculature	23522	KAT6B
HP:0004400	Abnormality of the pylorus	1536	CYBB
HP:0004400	Abnormality of the pylorus	613	BCR
HP:0003995	Abnormality of the radial head	126792	B3GALT6
HP:0003995	Abnormality of the radial head	57492	ARID1B
HP:0002818	Abnormality of the radius	9775	EIF4A3
HP:0002818	Abnormality of the radius	126792	B3GALT6
HP:0002818	Abnormality of the radius	57167	SALL4
HP:0002818	Abnormality of the radius	57697	FANCM
HP:0002818	Abnormality of the radius	1123	CHN1
HP:0002818	Abnormality of the radius	9321	TRIP11
HP:0002818	Abnormality of the radius	2189	FANCG
HP:0002818	Abnormality of the radius	57492	ARID1B
HP:0002818	Abnormality of the radius	2254	FGF9
HP:0002818	Abnormality of the radius	2006	ELN
HP:0002818	Abnormality of the radius	23522	KAT6B
HP:0002034	Abnormality of the rectum	1536	CYBB
HP:0002034	Abnormality of the rectum	9361	LONP1
HP:0002034	Abnormality of the rectum	5156	PDGFRA
HP:0002034	Abnormality of the rectum	57167	SALL4
HP:0002034	Abnormality of the rectum	2006	ELN
HP:0004742	Abnormality of the renal collecting system	10516	FBLN5
HP:0100957	Abnormality of the renal medulla	112752	IFT43
HP:0010944	Abnormality of the renal pelvis	64321	SOX17
HP:0010944	Abnormality of the renal pelvis	57167	SALL4
HP:0010944	Abnormality of the renal pelvis	57492	ARID1B
HP:0010944	Abnormality of the renal pelvis	10682	EBP
HP:0010944	Abnormality of the renal pelvis	23522	KAT6B
HP:0010944	Abnormality of the renal pelvis	6899	TBX1
HP:0000091	Abnormality of the renal tubule	2006	ELN
HP:0000091	Abnormality of the renal tubule	4594	MUT
HP:0002086	Abnormality of the respiratory system	112752	IFT43
HP:0002086	Abnormality of the respiratory system	8318	CDC45
HP:0002086	Abnormality of the respiratory system	2189	FANCG
HP:0002086	Abnormality of the respiratory system	57492	ARID1B
HP:0002086	Abnormality of the respiratory system	4261	CIITA
HP:0002086	Abnormality of the respiratory system	10516	FBLN5
HP:0002086	Abnormality of the respiratory system	8516	ITGA8
HP:0002086	Abnormality of the respiratory system	80208	SPG11
HP:0002086	Abnormality of the respiratory system	57697	FANCM
HP:0002086	Abnormality of the respiratory system	10682	EBP
HP:0002086	Abnormality of the respiratory system	51660	MPC1
HP:0002086	Abnormality of the respiratory system	4594	MUT
HP:0002086	Abnormality of the respiratory system	613	BCR
HP:0002086	Abnormality of the respiratory system	4729	NDUFV2
HP:0002086	Abnormality of the respiratory system	10892	MALT1
HP:0002086	Abnormality of the respiratory system	2778	GNAS
HP:0002086	Abnormality of the respiratory system	2799	GNS
HP:0002086	Abnormality of the respiratory system	6899	TBX1
HP:0002086	Abnormality of the respiratory system	811	CALR
HP:0002086	Abnormality of the respiratory system	283489	CHAMP1
HP:0002086	Abnormality of the respiratory system	56262	LRRC8A
HP:0002086	Abnormality of the respiratory system	9184	BUB3
HP:0002086	Abnormality of the respiratory system	23522	KAT6B
HP:0002086	Abnormality of the respiratory system	5156	PDGFRA
HP:0002086	Abnormality of the respiratory system	9321	TRIP11
HP:0002086	Abnormality of the respiratory system	1130	LYST
HP:0002086	Abnormality of the respiratory system	78987	CRELD1
HP:0002086	Abnormality of the respiratory system	9361	LONP1
HP:0002086	Abnormality of the respiratory system	3257	HPS1
HP:0002086	Abnormality of the respiratory system	7443	VRK1
HP:0002086	Abnormality of the respiratory system	7486	WRN
HP:0002086	Abnormality of the respiratory system	3426	CFI
HP:0002086	Abnormality of the respiratory system	3561	IL2RG
HP:0002086	Abnormality of the respiratory system	1536	CYBB
HP:0002086	Abnormality of the respiratory system	7681	MKRN3
HP:0002086	Abnormality of the respiratory system	9775	EIF4A3
HP:0002086	Abnormality of the respiratory system	1605	DAG1
HP:0002086	Abnormality of the respiratory system	56922	MCCC1
HP:0002086	Abnormality of the respiratory system	79600	TCTN1
HP:0002086	Abnormality of the respiratory system	9997	SCO2
HP:0002086	Abnormality of the respiratory system	3908	LAMA2
HP:0002086	Abnormality of the respiratory system	3949	LDLR
HP:0002086	Abnormality of the respiratory system	1908	EDN3
HP:0002086	Abnormality of the respiratory system	6049	RNF6
HP:0002086	Abnormality of the respiratory system	79813	EHMT1
HP:0002086	Abnormality of the respiratory system	2006	ELN
HP:0008046	Abnormality of the retinal vasculature	5148	PDE6G
HP:0008046	Abnormality of the retinal vasculature	346007	EYS
HP:0008046	Abnormality of the retinal vasculature	6295	SAG
HP:0008046	Abnormality of the retinal vasculature	4023	LPL
HP:0008046	Abnormality of the retinal vasculature	2006	ELN
HP:0008046	Abnormality of the retinal vasculature	64218	SEMA4A
HP:0008046	Abnormality of the retinal vasculature	6899	TBX1
HP:0001547	Abnormality of the rib cage	5130	PCYT1A
HP:0001547	Abnormality of the rib cage	9321	TRIP11
HP:0001547	Abnormality of the rib cage	8318	CDC45
HP:0001547	Abnormality of the rib cage	2799	GNS
HP:0001547	Abnormality of the rib cage	126792	B3GALT6
HP:0001547	Abnormality of the rib cage	10084	PQBP1
HP:0001547	Abnormality of the rib cage	23522	KAT6B
HP:0000772	Abnormality of the ribs	5130	PCYT1A
HP:0000772	Abnormality of the ribs	9321	TRIP11
HP:0000772	Abnormality of the ribs	8318	CDC45
HP:0000772	Abnormality of the ribs	2799	GNS
HP:0000772	Abnormality of the ribs	126792	B3GALT6
HP:0005107	Abnormality of the sacrum	57492	ARID1B
HP:0005107	Abnormality of the sacrum	8516	ITGA8
HP:0005107	Abnormality of the sacrum	2006	ELN
HP:0001965	Abnormality of the scalp	6736	SRY
HP:0001965	Abnormality of the scalp	1123	CHN1
HP:0001965	Abnormality of the scalp	57492	ARID1B
HP:0001965	Abnormality of the scalp	5932	RBBP8
HP:0001965	Abnormality of the scalp	7486	WRN
HP:0001965	Abnormality of the scalp	126792	B3GALT6
HP:0001965	Abnormality of the scalp	10682	EBP
HP:0001965	Abnormality of the scalp	23522	KAT6B
HP:0100037	Abnormality of the scalp hair	6736	SRY
HP:0100037	Abnormality of the scalp hair	1123	CHN1
HP:0100037	Abnormality of the scalp hair	57492	ARID1B
HP:0100037	Abnormality of the scalp hair	5932	RBBP8
HP:0100037	Abnormality of the scalp hair	7486	WRN
HP:0100037	Abnormality of the scalp hair	126792	B3GALT6
HP:0100037	Abnormality of the scalp hair	10682	EBP
HP:0100037	Abnormality of the scalp hair	23522	KAT6B
HP:0000782	Abnormality of the scapula	6443	SGCB
HP:0000782	Abnormality of the scapula	9321	TRIP11
HP:0000045	Abnormality of the scrotum	7681	MKRN3
HP:0000045	Abnormality of the scrotum	1954	MEGF8
HP:0000045	Abnormality of the scrotum	6736	SRY
HP:0000045	Abnormality of the scrotum	23522	KAT6B
HP:0007375	Abnormality of the septum pellucidum	79813	EHMT1
HP:0007375	Abnormality of the septum pellucidum	1605	DAG1
HP:0010827	Abnormality of the seventh cranial nerve	3908	LAMA2
HP:0010827	Abnormality of the seventh cranial nerve	57167	SALL4
HP:0003043	Abnormality of the shoulder	2006	ELN
HP:0001435	Abnormality of the shoulder girdle musculature	6443	SGCB
HP:0001435	Abnormality of the shoulder girdle musculature	57167	SALL4
HP:0000924	Abnormality of the skeletal system	8318	CDC45
HP:0000924	Abnormality of the skeletal system	57492	ARID1B
HP:0000924	Abnormality of the skeletal system	57592	ZNF687
HP:0000924	Abnormality of the skeletal system	8516	ITGA8
HP:0000924	Abnormality of the skeletal system	57697	FANCM
HP:0000924	Abnormality of the skeletal system	4488	MSX2
HP:0000924	Abnormality of the skeletal system	613	BCR
HP:0000924	Abnormality of the skeletal system	4729	NDUFV2
HP:0000924	Abnormality of the skeletal system	811	CALR
HP:0000924	Abnormality of the skeletal system	283489	CHAMP1
HP:0000924	Abnormality of the skeletal system	9150	CTDP1
HP:0000924	Abnormality of the skeletal system	9184	BUB3
HP:0000924	Abnormality of the skeletal system	5119	CHMP1A
HP:0000924	Abnormality of the skeletal system	5130	PCYT1A
HP:0000924	Abnormality of the skeletal system	1123	CHN1
HP:0000924	Abnormality of the skeletal system	9321	TRIP11
HP:0000924	Abnormality of the skeletal system	9361	LONP1
HP:0000924	Abnormality of the skeletal system	9526	MPDU1
HP:0000924	Abnormality of the skeletal system	25939	SAMHD1
HP:0000924	Abnormality of the skeletal system	79188	TMEM43
HP:0000924	Abnormality of the skeletal system	9652	TTC37
HP:0000924	Abnormality of the skeletal system	1536	CYBB
HP:0000924	Abnormality of the skeletal system	54820	NDE1
HP:0000924	Abnormality of the skeletal system	9775	EIF4A3
HP:0000924	Abnormality of the skeletal system	1605	DAG1
HP:0000924	Abnormality of the skeletal system	5723	PSPH
HP:0000924	Abnormality of the skeletal system	124590	USH1G
HP:0000924	Abnormality of the skeletal system	83696	TRAPPC9
HP:0000924	Abnormality of the skeletal system	79600	TCTN1
HP:0000924	Abnormality of the skeletal system	83737	ITCH
HP:0000924	Abnormality of the skeletal system	5932	RBBP8
HP:0000924	Abnormality of the skeletal system	1861	TOR1A
HP:0000924	Abnormality of the skeletal system	10084	PQBP1
HP:0000924	Abnormality of the skeletal system	1908	EDN3
HP:0000924	Abnormality of the skeletal system	1909	EDNRA
HP:0000924	Abnormality of the skeletal system	1917	EEF1A2
HP:0000924	Abnormality of the skeletal system	55180	LINS1
HP:0000924	Abnormality of the skeletal system	6049	RNF6
HP:0000924	Abnormality of the skeletal system	1954	MEGF8
HP:0000924	Abnormality of the skeletal system	79813	EHMT1
HP:0000924	Abnormality of the skeletal system	2006	ELN
HP:0000924	Abnormality of the skeletal system	51199	NIN
HP:0000924	Abnormality of the skeletal system	10300	KATNB1
HP:0000924	Abnormality of the skeletal system	112752	IFT43
HP:0000924	Abnormality of the skeletal system	10370	CITED2
HP:0000924	Abnormality of the skeletal system	2189	FANCG
HP:0000924	Abnormality of the skeletal system	6305	SBF1
HP:0000924	Abnormality of the skeletal system	2254	FGF9
HP:0000924	Abnormality of the skeletal system	10516	FBLN5
HP:0000924	Abnormality of the skeletal system	10518	CIB2
HP:0000924	Abnormality of the skeletal system	6443	SGCB
HP:0000924	Abnormality of the skeletal system	80208	SPG11
HP:0000924	Abnormality of the skeletal system	6496	SIX3
HP:0000924	Abnormality of the skeletal system	10599	SLCO1B1
HP:0000924	Abnormality of the skeletal system	10617	STAMBP
HP:0000924	Abnormality of the skeletal system	80270	HSD3B7
HP:0000924	Abnormality of the skeletal system	6575	SLC20A2
HP:0000924	Abnormality of the skeletal system	10682	EBP
HP:0000924	Abnormality of the skeletal system	51660	MPC1
HP:0000924	Abnormality of the skeletal system	6660	SOX5
HP:0000924	Abnormality of the skeletal system	113179	ADAT3
HP:0000924	Abnormality of the skeletal system	6687	SPG7
HP:0000924	Abnormality of the skeletal system	6736	SRY
HP:0000924	Abnormality of the skeletal system	2683	B4GALT1
HP:0000924	Abnormality of the skeletal system	10892	MALT1
HP:0000924	Abnormality of the skeletal system	2778	GNAS
HP:0000924	Abnormality of the skeletal system	2799	GNS
HP:0000924	Abnormality of the skeletal system	6899	TBX1
HP:0000924	Abnormality of the skeletal system	23394	ADNP
HP:0000924	Abnormality of the skeletal system	7018	TF
HP:0000924	Abnormality of the skeletal system	56262	LRRC8A
HP:0000924	Abnormality of the skeletal system	7128	TNFAIP3
HP:0000924	Abnormality of the skeletal system	23522	KAT6B
HP:0000924	Abnormality of the skeletal system	23534	TNPO3
HP:0000924	Abnormality of the skeletal system	60528	ELAC2
HP:0000924	Abnormality of the skeletal system	7341	SUMO1
HP:0000924	Abnormality of the skeletal system	7443	VRK1
HP:0000924	Abnormality of the skeletal system	7486	WRN
HP:0000924	Abnormality of the skeletal system	3426	CFI
HP:0000924	Abnormality of the skeletal system	100128927	ZBTB42
HP:0000924	Abnormality of the skeletal system	7546	ZIC2
HP:0000924	Abnormality of the skeletal system	3561	IL2RG
HP:0000924	Abnormality of the skeletal system	7681	MKRN3
HP:0000924	Abnormality of the skeletal system	118429	ANTXR2
HP:0000924	Abnormality of the skeletal system	3798	KIF5A
HP:0000924	Abnormality of the skeletal system	3908	LAMA2
HP:0000924	Abnormality of the skeletal system	126792	B3GALT6
HP:0000924	Abnormality of the skeletal system	57167	SALL4
HP:0000924	Abnormality of the skeletal system	3949	LDLR
HP:0000924	Abnormality of the skeletal system	81846	SBF2
HP:0000924	Abnormality of the skeletal system	4091	SMAD6
HP:0000951	Abnormality of the skin	112752	IFT43
HP:0000951	Abnormality of the skin	10370	CITED2
HP:0000951	Abnormality of the skin	2189	FANCG
HP:0000951	Abnormality of the skin	57492	ARID1B
HP:0000951	Abnormality of the skin	6295	SAG
HP:0000951	Abnormality of the skin	4261	CIITA
HP:0000951	Abnormality of the skin	2254	FGF9
HP:0000951	Abnormality of the skin	57609	DIP2B
HP:0000951	Abnormality of the skin	4361	MRE11
HP:0000951	Abnormality of the skin	10516	FBLN5
HP:0000951	Abnormality of the skin	22852	ANKRD26
HP:0000951	Abnormality of the skin	57697	FANCM
HP:0000951	Abnormality of the skin	10599	SLCO1B1
HP:0000951	Abnormality of the skin	53630	BCO1
HP:0000951	Abnormality of the skin	4488	MSX2
HP:0000951	Abnormality of the skin	80270	HSD3B7
HP:0000951	Abnormality of the skin	6575	SLC20A2
HP:0000951	Abnormality of the skin	10682	EBP
HP:0000951	Abnormality of the skin	4607	MYBPC3
HP:0000951	Abnormality of the skin	2566	GABRG2
HP:0000951	Abnormality of the skin	4645	MYO5B
HP:0000951	Abnormality of the skin	6768	ST14
HP:0000951	Abnormality of the skin	2778	GNAS
HP:0000951	Abnormality of the skin	64218	SEMA4A
HP:0000951	Abnormality of the skin	6899	TBX1
HP:0000951	Abnormality of the skin	811	CALR
HP:0000951	Abnormality of the skin	2934	GSN
HP:0000951	Abnormality of the skin	56246	MRAP
HP:0000951	Abnormality of the skin	56262	LRRC8A
HP:0000951	Abnormality of the skin	7128	TNFAIP3
HP:0000951	Abnormality of the skin	9184	BUB3
HP:0000951	Abnormality of the skin	23522	KAT6B
HP:0000951	Abnormality of the skin	23534	TNPO3
HP:0000951	Abnormality of the skin	5148	PDE6G
HP:0000951	Abnormality of the skin	5156	PDGFRA
HP:0000951	Abnormality of the skin	1123	CHN1
HP:0000951	Abnormality of the skin	1130	LYST
HP:0000951	Abnormality of the skin	3257	HPS1
HP:0000951	Abnormality of the skin	9526	MPDU1
HP:0000951	Abnormality of the skin	25913	POT1
HP:0000951	Abnormality of the skin	7486	WRN
HP:0000951	Abnormality of the skin	25939	SAMHD1
HP:0000951	Abnormality of the skin	3426	CFI
HP:0000951	Abnormality of the skin	5506	PPP1R3A
HP:0000951	Abnormality of the skin	9652	TTC37
HP:0000951	Abnormality of the skin	3561	IL2RG
HP:0000951	Abnormality of the skin	1536	CYBB
HP:0000951	Abnormality of the skin	7681	MKRN3
HP:0000951	Abnormality of the skin	118429	ANTXR2
HP:0000951	Abnormality of the skin	7957	EPM2A
HP:0000951	Abnormality of the skin	5932	RBBP8
HP:0000951	Abnormality of the skin	126792	B3GALT6
HP:0000951	Abnormality of the skin	57167	SALL4
HP:0000951	Abnormality of the skin	79719	AAGAB
HP:0000951	Abnormality of the skin	3949	LDLR
HP:0000951	Abnormality of the skin	1908	EDN3
HP:0000951	Abnormality of the skin	1909	EDNRA
HP:0000951	Abnormality of the skin	346007	EYS
HP:0000951	Abnormality of the skin	6049	RNF6
HP:0000951	Abnormality of the skin	1954	MEGF8
HP:0000951	Abnormality of the skin	4023	LPL
HP:0000951	Abnormality of the skin	79813	EHMT1
HP:0000951	Abnormality of the skin	2006	ELN
HP:0040211	Abnormality of the skin of the palm	126792	B3GALT6
HP:0040211	Abnormality of the skin of the palm	57492	ARID1B
HP:0040211	Abnormality of the skin of the palm	79813	EHMT1
HP:0040211	Abnormality of the skin of the palm	2254	FGF9
HP:0040211	Abnormality of the skin of the palm	23522	KAT6B
HP:0000929	Abnormality of the skull	10300	KATNB1
HP:0000929	Abnormality of the skull	112752	IFT43
HP:0000929	Abnormality of the skull	8318	CDC45
HP:0000929	Abnormality of the skull	10370	CITED2
HP:0000929	Abnormality of the skull	2189	FANCG
HP:0000929	Abnormality of the skull	57492	ARID1B
HP:0000929	Abnormality of the skull	6305	SBF1
HP:0000929	Abnormality of the skull	10516	FBLN5
HP:0000929	Abnormality of the skull	8516	ITGA8
HP:0000929	Abnormality of the skull	6496	SIX3
HP:0000929	Abnormality of the skull	57697	FANCM
HP:0000929	Abnormality of the skull	10617	STAMBP
HP:0000929	Abnormality of the skull	4488	MSX2
HP:0000929	Abnormality of the skull	6575	SLC20A2
HP:0000929	Abnormality of the skull	10682	EBP
HP:0000929	Abnormality of the skull	51660	MPC1
HP:0000929	Abnormality of the skull	6660	SOX5
HP:0000929	Abnormality of the skull	113179	ADAT3
HP:0000929	Abnormality of the skull	6736	SRY
HP:0000929	Abnormality of the skull	613	BCR
HP:0000929	Abnormality of the skull	4729	NDUFV2
HP:0000929	Abnormality of the skull	2683	B4GALT1
HP:0000929	Abnormality of the skull	2778	GNAS
HP:0000929	Abnormality of the skull	2799	GNS
HP:0000929	Abnormality of the skull	6899	TBX1
HP:0000929	Abnormality of the skull	283489	CHAMP1
HP:0000929	Abnormality of the skull	9150	CTDP1
HP:0000929	Abnormality of the skull	56262	LRRC8A
HP:0000929	Abnormality of the skull	9184	BUB3
HP:0000929	Abnormality of the skull	23522	KAT6B
HP:0000929	Abnormality of the skull	5119	CHMP1A
HP:0000929	Abnormality of the skull	5130	PCYT1A
HP:0000929	Abnormality of the skull	1123	CHN1
HP:0000929	Abnormality of the skull	9321	TRIP11
HP:0000929	Abnormality of the skull	60528	ELAC2
HP:0000929	Abnormality of the skull	9361	LONP1
HP:0000929	Abnormality of the skull	7341	SUMO1
HP:0000929	Abnormality of the skull	9526	MPDU1
HP:0000929	Abnormality of the skull	25939	SAMHD1
HP:0000929	Abnormality of the skull	3426	CFI
HP:0000929	Abnormality of the skull	100128927	ZBTB42
HP:0000929	Abnormality of the skull	7546	ZIC2
HP:0000929	Abnormality of the skull	9652	TTC37
HP:0000929	Abnormality of the skull	3561	IL2RG
HP:0000929	Abnormality of the skull	1536	CYBB
HP:0000929	Abnormality of the skull	7681	MKRN3
HP:0000929	Abnormality of the skull	54820	NDE1
HP:0000929	Abnormality of the skull	9775	EIF4A3
HP:0000929	Abnormality of the skull	1605	DAG1
HP:0000929	Abnormality of the skull	5723	PSPH
HP:0000929	Abnormality of the skull	118429	ANTXR2
HP:0000929	Abnormality of the skull	3798	KIF5A
HP:0000929	Abnormality of the skull	83696	TRAPPC9
HP:0000929	Abnormality of the skull	79600	TCTN1
HP:0000929	Abnormality of the skull	83737	ITCH
HP:0000929	Abnormality of the skull	5932	RBBP8
HP:0000929	Abnormality of the skull	3908	LAMA2
HP:0000929	Abnormality of the skull	126792	B3GALT6
HP:0000929	Abnormality of the skull	10084	PQBP1
HP:0000929	Abnormality of the skull	1909	EDNRA
HP:0000929	Abnormality of the skull	1917	EEF1A2
HP:0000929	Abnormality of the skull	55180	LINS1
HP:0000929	Abnormality of the skull	1954	MEGF8
HP:0000929	Abnormality of the skull	79813	EHMT1
HP:0000929	Abnormality of the skull	2006	ELN
HP:0000929	Abnormality of the skull	51199	NIN
HP:0002693	Abnormality of the skull base	1605	DAG1
HP:0002693	Abnormality of the skull base	2683	B4GALT1
HP:0002693	Abnormality of the skull base	57492	ARID1B
HP:0002693	Abnormality of the skull base	10682	EBP
HP:0002693	Abnormality of the skull base	9184	BUB3
HP:0002244	Abnormality of the small intestine	4645	MYO5B
HP:0002244	Abnormality of the small intestine	57697	FANCM
HP:0002244	Abnormality of the small intestine	8318	CDC45
HP:0002244	Abnormality of the small intestine	2189	FANCG
HP:0002244	Abnormality of the small intestine	80270	HSD3B7
HP:0002244	Abnormality of the small intestine	57492	ARID1B
HP:0002244	Abnormality of the small intestine	118429	ANTXR2
HP:0002244	Abnormality of the small intestine	4261	CIITA
HP:0002244	Abnormality of the small intestine	9652	TTC37
HP:0002244	Abnormality of the small intestine	51128	SAR1B
HP:0002244	Abnormality of the small intestine	2006	ELN
HP:0002244	Abnormality of the small intestine	9184	BUB3
HP:0002244	Abnormality of the small intestine	23534	TNPO3
HP:0100736	Abnormality of the soft palate	9775	EIF4A3
HP:0100736	Abnormality of the soft palate	1605	DAG1
HP:0100736	Abnormality of the soft palate	6496	SIX3
HP:0100736	Abnormality of the soft palate	57697	FANCM
HP:0100736	Abnormality of the soft palate	8318	CDC45
HP:0100736	Abnormality of the soft palate	4488	MSX2
HP:0100736	Abnormality of the soft palate	2189	FANCG
HP:0100736	Abnormality of the soft palate	9652	TTC37
HP:0100736	Abnormality of the soft palate	23522	KAT6B
HP:0100736	Abnormality of the soft palate	6899	TBX1
HP:0002143	Abnormality of the spinal cord	1123	CHN1
HP:0002143	Abnormality of the spinal cord	2189	FANCG
HP:0002143	Abnormality of the spinal cord	57492	ARID1B
HP:0002143	Abnormality of the spinal cord	2778	GNAS
HP:0002143	Abnormality of the spinal cord	6899	TBX1
HP:0002143	Abnormality of the spinal cord	126792	B3GALT6
HP:0002143	Abnormality of the spinal cord	57167	SALL4
HP:0002143	Abnormality of the spinal cord	57697	FANCM
HP:0002143	Abnormality of the spinal cord	2006	ELN
HP:0010303	Abnormality of the spinal meninges	2006	ELN
HP:0001743	Abnormality of the spleen	1536	CYBB
HP:0001743	Abnormality of the spleen	5156	PDGFRA
HP:0001743	Abnormality of the spleen	613	BCR
HP:0001743	Abnormality of the spleen	1130	LYST
HP:0001743	Abnormality of the spleen	2799	GNS
HP:0001743	Abnormality of the spleen	6899	TBX1
HP:0001743	Abnormality of the spleen	83737	ITCH
HP:0001743	Abnormality of the spleen	811	CALR
HP:0001743	Abnormality of the spleen	80270	HSD3B7
HP:0001743	Abnormality of the spleen	1954	MEGF8
HP:0001743	Abnormality of the spleen	4023	LPL
HP:0001743	Abnormality of the spleen	23522	KAT6B
HP:0001743	Abnormality of the spleen	3561	IL2RG
HP:0001743	Abnormality of the spleen	4594	MUT
HP:0000766	Abnormality of the sternum	6660	SOX5
HP:0000766	Abnormality of the sternum	6736	SRY
HP:0000766	Abnormality of the sternum	112752	IFT43
HP:0000766	Abnormality of the sternum	57492	ARID1B
HP:0000766	Abnormality of the sternum	10516	FBLN5
HP:0000766	Abnormality of the sternum	126792	B3GALT6
HP:0000766	Abnormality of the sternum	10084	PQBP1
HP:0000766	Abnormality of the sternum	1954	MEGF8
HP:0000766	Abnormality of the sternum	2006	ELN
HP:0000766	Abnormality of the sternum	23522	KAT6B
HP:0002577	Abnormality of the stomach	1536	CYBB
HP:0002577	Abnormality of the stomach	6660	SOX5
HP:0002577	Abnormality of the stomach	5156	PDGFRA
HP:0002577	Abnormality of the stomach	613	BCR
HP:0002577	Abnormality of the stomach	57492	ARID1B
HP:0002577	Abnormality of the stomach	6899	TBX1
HP:0002577	Abnormality of the stomach	25913	POT1
HP:0002577	Abnormality of the stomach	3908	LAMA2
HP:0002577	Abnormality of the stomach	283489	CHAMP1
HP:0002577	Abnormality of the stomach	10599	SLCO1B1
HP:0002577	Abnormality of the stomach	6531	SLC6A3
HP:0002577	Abnormality of the stomach	79813	EHMT1
HP:0002577	Abnormality of the stomach	2006	ELN
HP:0002577	Abnormality of the stomach	9184	BUB3
HP:0002577	Abnormality of the stomach	23522	KAT6B
HP:0002577	Abnormality of the stomach	5119	CHMP1A
HP:0012703	Abnormality of the subarachnoid space	2006	ELN
HP:0100538	Abnormality of the supraorbital ridges	10370	CITED2
HP:0100538	Abnormality of the supraorbital ridges	9652	TTC37
HP:0100538	Abnormality of the supraorbital ridges	83696	TRAPPC9
HP:0005262	Abnormality of the synovia	9775	EIF4A3
HP:0005262	Abnormality of the synovia	2189	FANCG
HP:0005262	Abnormality of the synovia	9361	LONP1
HP:0005262	Abnormality of the synovia	126792	B3GALT6
HP:0005262	Abnormality of the synovia	57697	FANCM
HP:0005262	Abnormality of the synovia	23522	KAT6B
HP:0008365	Abnormality of the talus	57492	ARID1B
HP:0008365	Abnormality of the talus	7486	WRN
HP:0001850	Abnormality of the tarsal bones	57492	ARID1B
HP:0001850	Abnormality of the tarsal bones	10682	EBP
HP:0001850	Abnormality of the tarsal bones	7486	WRN
HP:0010754	Abnormality of the temporomandibular joint	3908	LAMA2
HP:0000035	Abnormality of the testis	5148	PDE6G
HP:0000035	Abnormality of the testis	8287	USP9Y
HP:0000035	Abnormality of the testis	8318	CDC45
HP:0000035	Abnormality of the testis	10370	CITED2
HP:0000035	Abnormality of the testis	2189	FANCG
HP:0000035	Abnormality of the testis	9361	LONP1
HP:0000035	Abnormality of the testis	57492	ARID1B
HP:0000035	Abnormality of the testis	6295	SAG
HP:0000035	Abnormality of the testis	7486	WRN
HP:0000035	Abnormality of the testis	57697	FANCM
HP:0000035	Abnormality of the testis	10682	EBP
HP:0000035	Abnormality of the testis	7681	MKRN3
HP:0000035	Abnormality of the testis	1605	DAG1
HP:0000035	Abnormality of the testis	6736	SRY
HP:0000035	Abnormality of the testis	2778	GNAS
HP:0000035	Abnormality of the testis	64218	SEMA4A
HP:0000035	Abnormality of the testis	6899	TBX1
HP:0000035	Abnormality of the testis	126792	B3GALT6
HP:0000035	Abnormality of the testis	10084	PQBP1
HP:0000035	Abnormality of the testis	346007	EYS
HP:0000035	Abnormality of the testis	1954	MEGF8
HP:0000035	Abnormality of the testis	9150	CTDP1
HP:0000035	Abnormality of the testis	79813	EHMT1
HP:0000035	Abnormality of the testis	2006	ELN
HP:0000035	Abnormality of the testis	23522	KAT6B
HP:0045058	Abnormality of the testis size	7486	WRN
HP:0045058	Abnormality of the testis size	6736	SRY
HP:0045058	Abnormality of the testis size	8287	USP9Y
HP:0045058	Abnormality of the testis size	57697	FANCM
HP:0045058	Abnormality of the testis size	10084	PQBP1
HP:0045058	Abnormality of the testis size	2189	FANCG
HP:0045058	Abnormality of the testis size	9150	CTDP1
HP:0045058	Abnormality of the testis size	2778	GNAS
HP:0001227	Abnormality of the thenar eminence	57167	SALL4
HP:0045027	Abnormality of the thoracic cavity	1536	CYBB
HP:0045027	Abnormality of the thoracic cavity	10892	MALT1
HP:0100711	Abnormality of the thoracic spine	6660	SOX5
HP:0100711	Abnormality of the thoracic spine	5932	RBBP8
HP:0000765	Abnormality of the thorax	5130	PCYT1A
HP:0000765	Abnormality of the thorax	9321	TRIP11
HP:0000765	Abnormality of the thorax	112752	IFT43
HP:0000765	Abnormality of the thorax	8318	CDC45
HP:0000765	Abnormality of the thorax	57492	ARID1B
HP:0000765	Abnormality of the thorax	10516	FBLN5
HP:0000765	Abnormality of the thorax	6443	SGCB
HP:0000765	Abnormality of the thorax	7486	WRN
HP:0000765	Abnormality of the thorax	79188	TMEM43
HP:0000765	Abnormality of the thorax	4488	MSX2
HP:0000765	Abnormality of the thorax	10682	EBP
HP:0000765	Abnormality of the thorax	6660	SOX5
HP:0000765	Abnormality of the thorax	6736	SRY
HP:0000765	Abnormality of the thorax	2778	GNAS
HP:0000765	Abnormality of the thorax	2799	GNS
HP:0000765	Abnormality of the thorax	6899	TBX1
HP:0000765	Abnormality of the thorax	811	CALR
HP:0000765	Abnormality of the thorax	5932	RBBP8
HP:0000765	Abnormality of the thorax	3908	LAMA2
HP:0000765	Abnormality of the thorax	126792	B3GALT6
HP:0000765	Abnormality of the thorax	57167	SALL4
HP:0000765	Abnormality of the thorax	10084	PQBP1
HP:0000765	Abnormality of the thorax	6049	RNF6
HP:0000765	Abnormality of the thorax	1954	MEGF8
HP:0000765	Abnormality of the thorax	2006	ELN
HP:0000765	Abnormality of the thorax	23522	KAT6B
HP:0001172	Abnormality of the thumb	9775	EIF4A3
HP:0001172	Abnormality of the thumb	1123	CHN1
HP:0001172	Abnormality of the thumb	2189	FANCG
HP:0001172	Abnormality of the thumb	9361	LONP1
HP:0001172	Abnormality of the thumb	2254	FGF9
HP:0001172	Abnormality of the thumb	2778	GNAS
HP:0001172	Abnormality of the thumb	57167	SALL4
HP:0001172	Abnormality of the thumb	57697	FANCM
HP:0001172	Abnormality of the thumb	1908	EDN3
HP:0001172	Abnormality of the thumb	4488	MSX2
HP:0001172	Abnormality of the thumb	1954	MEGF8
HP:0001172	Abnormality of the thumb	2006	ELN
HP:0000777	Abnormality of the thymus	118429	ANTXR2
HP:0000777	Abnormality of the thymus	3561	IL2RG
HP:0000777	Abnormality of the thymus	6899	TBX1
HP:0000820	Abnormality of the thyroid gland	6736	SRY
HP:0000820	Abnormality of the thyroid gland	10892	MALT1
HP:0000820	Abnormality of the thyroid gland	3242	HPD
HP:0000820	Abnormality of the thyroid gland	2778	GNAS
HP:0000820	Abnormality of the thyroid gland	83696	TRAPPC9
HP:0000820	Abnormality of the thyroid gland	6899	TBX1
HP:0000820	Abnormality of the thyroid gland	10516	FBLN5
HP:0000820	Abnormality of the thyroid gland	7486	WRN
HP:0000820	Abnormality of the thyroid gland	7018	TF
HP:0000820	Abnormality of the thyroid gland	1908	EDN3
HP:0000820	Abnormality of the thyroid gland	2006	ELN
HP:0000820	Abnormality of the thyroid gland	9184	BUB3
HP:0000820	Abnormality of the thyroid gland	23522	KAT6B
HP:0000820	Abnormality of the thyroid gland	3561	IL2RG
HP:0000820	Abnormality of the thyroid gland	23534	TNPO3
HP:0000820	Abnormality of the thyroid gland	51199	NIN
HP:0000157	Abnormality of the tongue	6660	SOX5
HP:0000157	Abnormality of the tongue	613	BCR
HP:0000157	Abnormality of the tongue	5932	RBBP8
HP:0000157	Abnormality of the tongue	3908	LAMA2
HP:0000157	Abnormality of the tongue	10084	PQBP1
HP:0000157	Abnormality of the tongue	1909	EDNRA
HP:0000157	Abnormality of the tongue	79813	EHMT1
HP:0000157	Abnormality of the tongue	2006	ELN
HP:0000157	Abnormality of the tongue	23522	KAT6B
HP:0100765	Abnormality of the tonsils	6899	TBX1
HP:0002778	Abnormality of the trachea	1536	CYBB
HP:0002778	Abnormality of the trachea	8516	ITGA8
HP:0002778	Abnormality of the trachea	57697	FANCM
HP:0002778	Abnormality of the trachea	2189	FANCG
HP:0002778	Abnormality of the trachea	10682	EBP
HP:0002778	Abnormality of the trachea	79813	EHMT1
HP:0002778	Abnormality of the trachea	2006	ELN
HP:0005607	Abnormality of the tracheobronchial system	1536	CYBB
HP:0005607	Abnormality of the tracheobronchial system	2189	FANCG
HP:0005607	Abnormality of the tracheobronchial system	8516	ITGA8
HP:0005607	Abnormality of the tracheobronchial system	57697	FANCM
HP:0005607	Abnormality of the tracheobronchial system	10682	EBP
HP:0005607	Abnormality of the tracheobronchial system	79813	EHMT1
HP:0005607	Abnormality of the tracheobronchial system	56262	LRRC8A
HP:0005607	Abnormality of the tracheobronchial system	2006	ELN
HP:0005607	Abnormality of the tracheobronchial system	3561	IL2RG
HP:0002997	Abnormality of the ulna	57167	SALL4
HP:0002997	Abnormality of the ulna	57697	FANCM
HP:0002997	Abnormality of the ulna	2189	FANCG
HP:0002997	Abnormality of the ulna	2006	ELN
HP:0002997	Abnormality of the ulna	23522	KAT6B
HP:0001551	Abnormality of the umbilicus	10516	FBLN5
HP:0001551	Abnormality of the umbilicus	57697	FANCM
HP:0001551	Abnormality of the umbilicus	9321	TRIP11
HP:0001551	Abnormality of the umbilicus	2189	FANCG
HP:0001551	Abnormality of the umbilicus	57492	ARID1B
HP:0001551	Abnormality of the umbilicus	1954	MEGF8
HP:0001551	Abnormality of the umbilicus	2006	ELN
HP:0001551	Abnormality of the umbilicus	6899	TBX1
HP:0001454	Abnormality of the upper arm	2254	FGF9
HP:0001454	Abnormality of the upper arm	57167	SALL4
HP:0001454	Abnormality of the upper arm	9361	LONP1
HP:0001454	Abnormality of the upper arm	2778	GNAS
HP:0002817	Abnormality of the upper limb	112752	IFT43
HP:0002817	Abnormality of the upper limb	8318	CDC45
HP:0002817	Abnormality of the upper limb	10370	CITED2
HP:0002817	Abnormality of the upper limb	2189	FANCG
HP:0002817	Abnormality of the upper limb	57492	ARID1B
HP:0002817	Abnormality of the upper limb	2254	FGF9
HP:0002817	Abnormality of the upper limb	10516	FBLN5
HP:0002817	Abnormality of the upper limb	6443	SGCB
HP:0002817	Abnormality of the upper limb	80208	SPG11
HP:0002817	Abnormality of the upper limb	57697	FANCM
HP:0002817	Abnormality of the upper limb	10617	STAMBP
HP:0002817	Abnormality of the upper limb	4488	MSX2
HP:0002817	Abnormality of the upper limb	10682	EBP
HP:0002817	Abnormality of the upper limb	6660	SOX5
HP:0002817	Abnormality of the upper limb	6736	SRY
HP:0002817	Abnormality of the upper limb	613	BCR
HP:0002817	Abnormality of the upper limb	2778	GNAS
HP:0002817	Abnormality of the upper limb	6899	TBX1
HP:0002817	Abnormality of the upper limb	23394	ADNP
HP:0002817	Abnormality of the upper limb	9150	CTDP1
HP:0002817	Abnormality of the upper limb	9184	BUB3
HP:0002817	Abnormality of the upper limb	23522	KAT6B
HP:0002817	Abnormality of the upper limb	5130	PCYT1A
HP:0002817	Abnormality of the upper limb	5156	PDGFRA
HP:0002817	Abnormality of the upper limb	1123	CHN1
HP:0002817	Abnormality of the upper limb	9321	TRIP11
HP:0002817	Abnormality of the upper limb	9361	LONP1
HP:0002817	Abnormality of the upper limb	7486	WRN
HP:0002817	Abnormality of the upper limb	25939	SAMHD1
HP:0002817	Abnormality of the upper limb	7681	MKRN3
HP:0002817	Abnormality of the upper limb	9775	EIF4A3
HP:0002817	Abnormality of the upper limb	118429	ANTXR2
HP:0002817	Abnormality of the upper limb	83696	TRAPPC9
HP:0002817	Abnormality of the upper limb	79600	TCTN1
HP:0002817	Abnormality of the upper limb	5932	RBBP8
HP:0002817	Abnormality of the upper limb	126792	B3GALT6
HP:0002817	Abnormality of the upper limb	57167	SALL4
HP:0002817	Abnormality of the upper limb	10084	PQBP1
HP:0002817	Abnormality of the upper limb	1908	EDN3
HP:0002817	Abnormality of the upper limb	1954	MEGF8
HP:0002817	Abnormality of the upper limb	81846	SBF2
HP:0002817	Abnormality of the upper limb	79813	EHMT1
HP:0002817	Abnormality of the upper limb	2006	ELN
HP:0002817	Abnormality of the upper limb	51199	NIN
HP:0002087	Abnormality of the upper respiratory tract	1536	CYBB
HP:0002087	Abnormality of the upper respiratory tract	9775	EIF4A3
HP:0002087	Abnormality of the upper respiratory tract	2189	FANCG
HP:0002087	Abnormality of the upper respiratory tract	9361	LONP1
HP:0002087	Abnormality of the upper respiratory tract	6899	TBX1
HP:0002087	Abnormality of the upper respiratory tract	7486	WRN
HP:0002087	Abnormality of the upper respiratory tract	8516	ITGA8
HP:0002087	Abnormality of the upper respiratory tract	57697	FANCM
HP:0002087	Abnormality of the upper respiratory tract	10682	EBP
HP:0002087	Abnormality of the upper respiratory tract	79813	EHMT1
HP:0002087	Abnormality of the upper respiratory tract	56262	LRRC8A
HP:0002087	Abnormality of the upper respiratory tract	2006	ELN
HP:0002087	Abnormality of the upper respiratory tract	23522	KAT6B
HP:0002087	Abnormality of the upper respiratory tract	3561	IL2RG
HP:0010935	Abnormality of the upper urinary tract	112752	IFT43
HP:0010935	Abnormality of the upper urinary tract	8318	CDC45
HP:0010935	Abnormality of the upper urinary tract	2189	FANCG
HP:0010935	Abnormality of the upper urinary tract	57492	ARID1B
HP:0010935	Abnormality of the upper urinary tract	84189	SLITRK6
HP:0010935	Abnormality of the upper urinary tract	57592	ZNF687
HP:0010935	Abnormality of the upper urinary tract	26873	OPLAH
HP:0010935	Abnormality of the upper urinary tract	10516	FBLN5
HP:0010935	Abnormality of the upper urinary tract	8516	ITGA8
HP:0010935	Abnormality of the upper urinary tract	57697	FANCM
HP:0010935	Abnormality of the upper urinary tract	10617	STAMBP
HP:0010935	Abnormality of the upper urinary tract	10682	EBP
HP:0010935	Abnormality of the upper urinary tract	4594	MUT
HP:0010935	Abnormality of the upper urinary tract	4645	MYO5B
HP:0010935	Abnormality of the upper urinary tract	6736	SRY
HP:0010935	Abnormality of the upper urinary tract	2778	GNAS
HP:0010935	Abnormality of the upper urinary tract	6899	TBX1
HP:0010935	Abnormality of the upper urinary tract	64321	SOX17
HP:0010935	Abnormality of the upper urinary tract	2934	GSN
HP:0010935	Abnormality of the upper urinary tract	9184	BUB3
HP:0010935	Abnormality of the upper urinary tract	23522	KAT6B
HP:0010935	Abnormality of the upper urinary tract	7225	TRPC6
HP:0010935	Abnormality of the upper urinary tract	1123	CHN1
HP:0010935	Abnormality of the upper urinary tract	5230	PGK1
HP:0010935	Abnormality of the upper urinary tract	9361	LONP1
HP:0010935	Abnormality of the upper urinary tract	3257	HPS1
HP:0010935	Abnormality of the upper urinary tract	7486	WRN
HP:0010935	Abnormality of the upper urinary tract	3426	CFI
HP:0010935	Abnormality of the upper urinary tract	9652	TTC37
HP:0010935	Abnormality of the upper urinary tract	3561	IL2RG
HP:0010935	Abnormality of the upper urinary tract	5932	RBBP8
HP:0010935	Abnormality of the upper urinary tract	57167	SALL4
HP:0010935	Abnormality of the upper urinary tract	10084	PQBP1
HP:0010935	Abnormality of the upper urinary tract	79719	AAGAB
HP:0010935	Abnormality of the upper urinary tract	3949	LDLR
HP:0010935	Abnormality of the upper urinary tract	1909	EDNRA
HP:0010935	Abnormality of the upper urinary tract	79813	EHMT1
HP:0010935	Abnormality of the upper urinary tract	2006	ELN
HP:0000069	Abnormality of the ureter	8318	CDC45
HP:0000069	Abnormality of the ureter	2189	FANCG
HP:0000069	Abnormality of the ureter	9361	LONP1
HP:0000069	Abnormality of the ureter	6899	TBX1
HP:0000069	Abnormality of the ureter	10516	FBLN5
HP:0000069	Abnormality of the ureter	64321	SOX17
HP:0000069	Abnormality of the ureter	57167	SALL4
HP:0000069	Abnormality of the ureter	57697	FANCM
HP:0000069	Abnormality of the ureter	1909	EDNRA
HP:0000069	Abnormality of the ureter	10617	STAMBP
HP:0000069	Abnormality of the ureter	79813	EHMT1
HP:0000069	Abnormality of the ureter	2006	ELN
HP:0000795	Abnormality of the urethra	6736	SRY
HP:0000795	Abnormality of the urethra	8318	CDC45
HP:0000795	Abnormality of the urethra	2189	FANCG
HP:0000795	Abnormality of the urethra	57492	ARID1B
HP:0000795	Abnormality of the urethra	6899	TBX1
HP:0000795	Abnormality of the urethra	5932	RBBP8
HP:0000795	Abnormality of the urethra	57697	FANCM
HP:0000795	Abnormality of the urethra	10084	PQBP1
HP:0000795	Abnormality of the urethra	79813	EHMT1
HP:0000795	Abnormality of the urethra	2006	ELN
HP:0000079	Abnormality of the urinary system	112752	IFT43
HP:0000079	Abnormality of the urinary system	8318	CDC45
HP:0000079	Abnormality of the urinary system	2189	FANCG
HP:0000079	Abnormality of the urinary system	57492	ARID1B
HP:0000079	Abnormality of the urinary system	6305	SBF1
HP:0000079	Abnormality of the urinary system	4261	CIITA
HP:0000079	Abnormality of the urinary system	84189	SLITRK6
HP:0000079	Abnormality of the urinary system	57592	ZNF687
HP:0000079	Abnormality of the urinary system	26873	OPLAH
HP:0000079	Abnormality of the urinary system	10516	FBLN5
HP:0000079	Abnormality of the urinary system	8516	ITGA8
HP:0000079	Abnormality of the urinary system	80208	SPG11
HP:0000079	Abnormality of the urinary system	57697	FANCM
HP:0000079	Abnormality of the urinary system	10617	STAMBP
HP:0000079	Abnormality of the urinary system	410	ARSA
HP:0000079	Abnormality of the urinary system	6575	SLC20A2
HP:0000079	Abnormality of the urinary system	10682	EBP
HP:0000079	Abnormality of the urinary system	51660	MPC1
HP:0000079	Abnormality of the urinary system	4594	MUT
HP:0000079	Abnormality of the urinary system	6687	SPG7
HP:0000079	Abnormality of the urinary system	4645	MYO5B
HP:0000079	Abnormality of the urinary system	6736	SRY
HP:0000079	Abnormality of the urinary system	10841	FTCD
HP:0000079	Abnormality of the urinary system	613	BCR
HP:0000079	Abnormality of the urinary system	8913	CACNA1G
HP:0000079	Abnormality of the urinary system	2778	GNAS
HP:0000079	Abnormality of the urinary system	2799	GNS
HP:0000079	Abnormality of the urinary system	6899	TBX1
HP:0000079	Abnormality of the urinary system	64321	SOX17
HP:0000079	Abnormality of the urinary system	2934	GSN
HP:0000079	Abnormality of the urinary system	9184	BUB3
HP:0000079	Abnormality of the urinary system	23522	KAT6B
HP:0000079	Abnormality of the urinary system	7225	TRPC6
HP:0000079	Abnormality of the urinary system	1123	CHN1
HP:0000079	Abnormality of the urinary system	5230	PGK1
HP:0000079	Abnormality of the urinary system	9361	LONP1
HP:0000079	Abnormality of the urinary system	3242	HPD
HP:0000079	Abnormality of the urinary system	3257	HPS1
HP:0000079	Abnormality of the urinary system	7486	WRN
HP:0000079	Abnormality of the urinary system	3426	CFI
HP:0000079	Abnormality of the urinary system	9652	TTC37
HP:0000079	Abnormality of the urinary system	3561	IL2RG
HP:0000079	Abnormality of the urinary system	56922	MCCC1
HP:0000079	Abnormality of the urinary system	3798	KIF5A
HP:0000079	Abnormality of the urinary system	5932	RBBP8
HP:0000079	Abnormality of the urinary system	57167	SALL4
HP:0000079	Abnormality of the urinary system	10084	PQBP1
HP:0000079	Abnormality of the urinary system	79719	AAGAB
HP:0000079	Abnormality of the urinary system	3949	LDLR
HP:0000079	Abnormality of the urinary system	1909	EDNRA
HP:0000079	Abnormality of the urinary system	79813	EHMT1
HP:0000079	Abnormality of the urinary system	2006	ELN
HP:0011277	Abnormality of the urinary system physiology	7225	TRPC6
HP:0011277	Abnormality of the urinary system physiology	5230	PGK1
HP:0011277	Abnormality of the urinary system physiology	112752	IFT43
HP:0011277	Abnormality of the urinary system physiology	2189	FANCG
HP:0011277	Abnormality of the urinary system physiology	4261	CIITA
HP:0011277	Abnormality of the urinary system physiology	3242	HPD
HP:0011277	Abnormality of the urinary system physiology	3257	HPS1
HP:0011277	Abnormality of the urinary system physiology	84189	SLITRK6
HP:0011277	Abnormality of the urinary system physiology	26873	OPLAH
HP:0011277	Abnormality of the urinary system physiology	10516	FBLN5
HP:0011277	Abnormality of the urinary system physiology	8516	ITGA8
HP:0011277	Abnormality of the urinary system physiology	57697	FANCM
HP:0011277	Abnormality of the urinary system physiology	3426	CFI
HP:0011277	Abnormality of the urinary system physiology	51660	MPC1
HP:0011277	Abnormality of the urinary system physiology	3561	IL2RG
HP:0011277	Abnormality of the urinary system physiology	4594	MUT
HP:0011277	Abnormality of the urinary system physiology	4645	MYO5B
HP:0011277	Abnormality of the urinary system physiology	6736	SRY
HP:0011277	Abnormality of the urinary system physiology	10841	FTCD
HP:0011277	Abnormality of the urinary system physiology	56922	MCCC1
HP:0011277	Abnormality of the urinary system physiology	613	BCR
HP:0011277	Abnormality of the urinary system physiology	2778	GNAS
HP:0011277	Abnormality of the urinary system physiology	2799	GNS
HP:0011277	Abnormality of the urinary system physiology	2934	GSN
HP:0011277	Abnormality of the urinary system physiology	79813	EHMT1
HP:0011277	Abnormality of the urinary system physiology	2006	ELN
HP:0012888	Abnormality of the uterine cervix	6736	SRY
HP:0000130	Abnormality of the uterus	8516	ITGA8
HP:0000130	Abnormality of the uterus	6736	SRY
HP:0000130	Abnormality of the uterus	57697	FANCM
HP:0000130	Abnormality of the uterus	2189	FANCG
HP:0000130	Abnormality of the uterus	57492	ARID1B
HP:0000130	Abnormality of the uterus	6899	TBX1
HP:0000130	Abnormality of the uterus	51199	NIN
HP:0000553	Abnormality of the uvea	5130	PCYT1A
HP:0000553	Abnormality of the uvea	1123	CHN1
HP:0000553	Abnormality of the uvea	1130	LYST
HP:0000553	Abnormality of the uvea	2189	FANCG
HP:0000553	Abnormality of the uvea	6295	SAG
HP:0000553	Abnormality of the uvea	1181	CLCN2
HP:0000553	Abnormality of the uvea	3257	HPS1
HP:0000553	Abnormality of the uvea	10516	FBLN5
HP:0000553	Abnormality of the uvea	10518	CIB2
HP:0000553	Abnormality of the uvea	57697	FANCM
HP:0000553	Abnormality of the uvea	1414	CRYBB1
HP:0000553	Abnormality of the uvea	1421	CRYGD
HP:0000553	Abnormality of the uvea	7681	MKRN3
HP:0000553	Abnormality of the uvea	1605	DAG1
HP:0000553	Abnormality of the uvea	10892	MALT1
HP:0000553	Abnormality of the uvea	124590	USH1G
HP:0000553	Abnormality of the uvea	79600	TCTN1
HP:0000553	Abnormality of the uvea	57167	SALL4
HP:0000553	Abnormality of the uvea	1908	EDN3
HP:0000553	Abnormality of the uvea	2006	ELN
HP:0000553	Abnormality of the uvea	7128	TNFAIP3
HP:0000172	Abnormality of the uvula	2189	FANCG
HP:0000172	Abnormality of the uvula	9775	EIF4A3
HP:0000172	Abnormality of the uvula	9652	TTC37
HP:0000172	Abnormality of the uvula	1605	DAG1
HP:0000172	Abnormality of the uvula	6496	SIX3
HP:0000172	Abnormality of the uvula	57697	FANCM
HP:0000172	Abnormality of the uvula	23522	KAT6B
HP:0000172	Abnormality of the uvula	6899	TBX1
HP:0000172	Abnormality of the uvula	8318	CDC45
HP:0000142	Abnormality of the vagina	9361	LONP1
HP:0000142	Abnormality of the vagina	8516	ITGA8
HP:0000142	Abnormality of the vagina	57167	SALL4
HP:0000142	Abnormality of the vagina	6736	SRY
HP:0000142	Abnormality of the vagina	9184	BUB3
HP:0002597	Abnormality of the vasculature	112752	IFT43
HP:0002597	Abnormality of the vasculature	10370	CITED2
HP:0002597	Abnormality of the vasculature	2189	FANCG
HP:0002597	Abnormality of the vasculature	57492	ARID1B
HP:0002597	Abnormality of the vasculature	6295	SAG
HP:0002597	Abnormality of the vasculature	57592	ZNF687
HP:0002597	Abnormality of the vasculature	4361	MRE11
HP:0002597	Abnormality of the vasculature	10516	FBLN5
HP:0002597	Abnormality of the vasculature	22852	ANKRD26
HP:0002597	Abnormality of the vasculature	57697	FANCM
HP:0002597	Abnormality of the vasculature	6575	SLC20A2
HP:0002597	Abnormality of the vasculature	10682	EBP
HP:0002597	Abnormality of the vasculature	445	ASS1
HP:0002597	Abnormality of the vasculature	4594	MUT
HP:0002597	Abnormality of the vasculature	6736	SRY
HP:0002597	Abnormality of the vasculature	613	BCR
HP:0002597	Abnormality of the vasculature	2778	GNAS
HP:0002597	Abnormality of the vasculature	64218	SEMA4A
HP:0002597	Abnormality of the vasculature	6899	TBX1
HP:0002597	Abnormality of the vasculature	811	CALR
HP:0002597	Abnormality of the vasculature	56262	LRRC8A
HP:0002597	Abnormality of the vasculature	9184	BUB3
HP:0002597	Abnormality of the vasculature	23522	KAT6B
HP:0002597	Abnormality of the vasculature	23534	TNPO3
HP:0002597	Abnormality of the vasculature	5148	PDE6G
HP:0002597	Abnormality of the vasculature	5156	PDGFRA
HP:0002597	Abnormality of the vasculature	1130	LYST
HP:0002597	Abnormality of the vasculature	78987	CRELD1
HP:0002597	Abnormality of the vasculature	3257	HPS1
HP:0002597	Abnormality of the vasculature	7486	WRN
HP:0002597	Abnormality of the vasculature	3426	CFI
HP:0002597	Abnormality of the vasculature	5506	PPP1R3A
HP:0002597	Abnormality of the vasculature	9652	TTC37
HP:0002597	Abnormality of the vasculature	56922	MCCC1
HP:0002597	Abnormality of the vasculature	118429	ANTXR2
HP:0002597	Abnormality of the vasculature	1837	DTNA
HP:0002597	Abnormality of the vasculature	3908	LAMA2
HP:0002597	Abnormality of the vasculature	57167	SALL4
HP:0002597	Abnormality of the vasculature	10084	PQBP1
HP:0002597	Abnormality of the vasculature	3949	LDLR
HP:0002597	Abnormality of the vasculature	346007	EYS
HP:0002597	Abnormality of the vasculature	1954	MEGF8
HP:0002597	Abnormality of the vasculature	4023	LPL
HP:0002597	Abnormality of the vasculature	79813	EHMT1
HP:0002597	Abnormality of the vasculature	2006	ELN
HP:0002597	Abnormality of the vasculature	4091	SMAD6
HP:0008047	Abnormality of the vasculature of the eye	5148	PDE6G
HP:0008047	Abnormality of the vasculature of the eye	6295	SAG
HP:0008047	Abnormality of the vasculature of the eye	2778	GNAS
HP:0008047	Abnormality of the vasculature of the eye	64218	SEMA4A
HP:0008047	Abnormality of the vasculature of the eye	6899	TBX1
HP:0008047	Abnormality of the vasculature of the eye	346007	EYS
HP:0008047	Abnormality of the vasculature of the eye	4023	LPL
HP:0008047	Abnormality of the vasculature of the eye	56262	LRRC8A
HP:0008047	Abnormality of the vasculature of the eye	2006	ELN
HP:0000925	Abnormality of the vertebral column	8318	CDC45
HP:0000925	Abnormality of the vertebral column	2189	FANCG
HP:0000925	Abnormality of the vertebral column	57492	ARID1B
HP:0000925	Abnormality of the vertebral column	6305	SBF1
HP:0000925	Abnormality of the vertebral column	10516	FBLN5
HP:0000925	Abnormality of the vertebral column	8516	ITGA8
HP:0000925	Abnormality of the vertebral column	80208	SPG11
HP:0000925	Abnormality of the vertebral column	6496	SIX3
HP:0000925	Abnormality of the vertebral column	57697	FANCM
HP:0000925	Abnormality of the vertebral column	10682	EBP
HP:0000925	Abnormality of the vertebral column	6660	SOX5
HP:0000925	Abnormality of the vertebral column	6687	SPG7
HP:0000925	Abnormality of the vertebral column	6736	SRY
HP:0000925	Abnormality of the vertebral column	613	BCR
HP:0000925	Abnormality of the vertebral column	2778	GNAS
HP:0000925	Abnormality of the vertebral column	2799	GNS
HP:0000925	Abnormality of the vertebral column	6899	TBX1
HP:0000925	Abnormality of the vertebral column	9150	CTDP1
HP:0000925	Abnormality of the vertebral column	23522	KAT6B
HP:0000925	Abnormality of the vertebral column	5130	PCYT1A
HP:0000925	Abnormality of the vertebral column	1123	CHN1
HP:0000925	Abnormality of the vertebral column	9321	TRIP11
HP:0000925	Abnormality of the vertebral column	9361	LONP1
HP:0000925	Abnormality of the vertebral column	7681	MKRN3
HP:0000925	Abnormality of the vertebral column	1605	DAG1
HP:0000925	Abnormality of the vertebral column	118429	ANTXR2
HP:0000925	Abnormality of the vertebral column	3798	KIF5A
HP:0000925	Abnormality of the vertebral column	83696	TRAPPC9
HP:0000925	Abnormality of the vertebral column	79600	TCTN1
HP:0000925	Abnormality of the vertebral column	5932	RBBP8
HP:0000925	Abnormality of the vertebral column	3908	LAMA2
HP:0000925	Abnormality of the vertebral column	1861	TOR1A
HP:0000925	Abnormality of the vertebral column	126792	B3GALT6
HP:0000925	Abnormality of the vertebral column	57167	SALL4
HP:0000925	Abnormality of the vertebral column	10084	PQBP1
HP:0000925	Abnormality of the vertebral column	1954	MEGF8
HP:0000925	Abnormality of the vertebral column	81846	SBF2
HP:0000925	Abnormality of the vertebral column	2006	ELN
HP:0000925	Abnormality of the vertebral column	51199	NIN
HP:0005106	Abnormality of the vertebral endplates	126792	B3GALT6
HP:0008777	Abnormality of the vocal cords	9361	LONP1
HP:0008777	Abnormality of the vocal cords	2006	ELN
HP:0001608	Abnormality of the voice	7681	MKRN3
HP:0001608	Abnormality of the voice	9775	EIF4A3
HP:0001608	Abnormality of the voice	2778	GNAS
HP:0001608	Abnormality of the voice	6899	TBX1
HP:0001608	Abnormality of the voice	5932	RBBP8
HP:0001608	Abnormality of the voice	7486	WRN
HP:0001608	Abnormality of the voice	3908	LAMA2
HP:0001608	Abnormality of the voice	1861	TOR1A
HP:0001608	Abnormality of the voice	10084	PQBP1
HP:0001608	Abnormality of the voice	6049	RNF6
HP:0001608	Abnormality of the voice	2006	ELN
HP:0011867	Abnormality of the wing of the ilium	126792	B3GALT6
HP:0003019	Abnormality of the wrist	126792	B3GALT6
HP:0003019	Abnormality of the wrist	57167	SALL4
HP:0003019	Abnormality of the wrist	9361	LONP1
HP:0003019	Abnormality of the wrist	10682	EBP
HP:0003019	Abnormality of the wrist	51199	NIN
HP:0010668	Abnormality of the zygomatic bone	613	BCR
HP:0010668	Abnormality of the zygomatic bone	57492	ARID1B
HP:0010668	Abnormality of the zygomatic bone	6899	TBX1
HP:0010668	Abnormality of the zygomatic bone	126792	B3GALT6
HP:0010668	Abnormality of the zygomatic bone	6496	SIX3
HP:0010668	Abnormality of the zygomatic bone	10084	PQBP1
HP:0010668	Abnormality of the zygomatic bone	10682	EBP
HP:0010668	Abnormality of the zygomatic bone	9150	CTDP1
HP:0010668	Abnormality of the zygomatic bone	79813	EHMT1
HP:0010668	Abnormality of the zygomatic bone	2006	ELN
HP:0009602	Abnormality of thumb phalanx	57167	SALL4
HP:0009602	Abnormality of thumb phalanx	57697	FANCM
HP:0009602	Abnormality of thumb phalanx	1123	CHN1
HP:0009602	Abnormality of thumb phalanx	4488	MSX2
HP:0009602	Abnormality of thumb phalanx	2189	FANCG
HP:0009602	Abnormality of thumb phalanx	1954	MEGF8
HP:0009602	Abnormality of thumb phalanx	2254	FGF9
HP:0009602	Abnormality of thumb phalanx	2778	GNAS
HP:0011772	Abnormality of thyroid morphology	7486	WRN
HP:0011772	Abnormality of thyroid morphology	1908	EDN3
HP:0011772	Abnormality of thyroid morphology	2778	GNAS
HP:0011772	Abnormality of thyroid morphology	23522	KAT6B
HP:0011772	Abnormality of thyroid morphology	3561	IL2RG
HP:0002926	Abnormality of thyroid physiology	10516	FBLN5
HP:0002926	Abnormality of thyroid physiology	6736	SRY
HP:0002926	Abnormality of thyroid physiology	7018	TF
HP:0002926	Abnormality of thyroid physiology	3242	HPD
HP:0002926	Abnormality of thyroid physiology	2006	ELN
HP:0002926	Abnormality of thyroid physiology	2778	GNAS
HP:0002926	Abnormality of thyroid physiology	9184	BUB3
HP:0002926	Abnormality of thyroid physiology	23522	KAT6B
HP:0002926	Abnormality of thyroid physiology	3561	IL2RG
HP:0002926	Abnormality of thyroid physiology	83696	TRAPPC9
HP:0002926	Abnormality of thyroid physiology	6899	TBX1
HP:0002926	Abnormality of thyroid physiology	51199	NIN
HP:0002992	Abnormality of tibia morphology	5130	PCYT1A
HP:0002992	Abnormality of tibia morphology	9775	EIF4A3
HP:0001780	Abnormality of toe	112752	IFT43
HP:0001780	Abnormality of toe	8318	CDC45
HP:0001780	Abnormality of toe	2189	FANCG
HP:0001780	Abnormality of toe	57492	ARID1B
HP:0001780	Abnormality of toe	57697	FANCM
HP:0001780	Abnormality of toe	10682	EBP
HP:0001780	Abnormality of toe	3561	IL2RG
HP:0001780	Abnormality of toe	6660	SOX5
HP:0001780	Abnormality of toe	9775	EIF4A3
HP:0001780	Abnormality of toe	6736	SRY
HP:0001780	Abnormality of toe	613	BCR
HP:0001780	Abnormality of toe	2778	GNAS
HP:0001780	Abnormality of toe	79600	TCTN1
HP:0001780	Abnormality of toe	6899	TBX1
HP:0001780	Abnormality of toe	5932	RBBP8
HP:0001780	Abnormality of toe	126792	B3GALT6
HP:0001780	Abnormality of toe	57167	SALL4
HP:0001780	Abnormality of toe	6049	RNF6
HP:0001780	Abnormality of toe	1954	MEGF8
HP:0001780	Abnormality of toe	81846	SBF2
HP:0001780	Abnormality of toe	2006	ELN
HP:0011030	Abnormality of transition element cation homeostasis	55532	SLC30A10
HP:0011030	Abnormality of transition element cation homeostasis	9652	TTC37
HP:0010917	Abnormality of tyrosine metabolism	3242	HPD
HP:0040070	Abnormality of upper limb bone	5130	PCYT1A
HP:0040070	Abnormality of upper limb bone	9775	EIF4A3
HP:0040070	Abnormality of upper limb bone	6736	SRY
HP:0040070	Abnormality of upper limb bone	1123	CHN1
HP:0040070	Abnormality of upper limb bone	9321	TRIP11
HP:0040070	Abnormality of upper limb bone	2189	FANCG
HP:0040070	Abnormality of upper limb bone	9361	LONP1
HP:0040070	Abnormality of upper limb bone	57492	ARID1B
HP:0040070	Abnormality of upper limb bone	2254	FGF9
HP:0040070	Abnormality of upper limb bone	2778	GNAS
HP:0040070	Abnormality of upper limb bone	126792	B3GALT6
HP:0040070	Abnormality of upper limb bone	57167	SALL4
HP:0040070	Abnormality of upper limb bone	57697	FANCM
HP:0040070	Abnormality of upper limb bone	1954	MEGF8
HP:0040070	Abnormality of upper limb bone	2006	ELN
HP:0040070	Abnormality of upper limb bone	23522	KAT6B
HP:0009810	Abnormality of upper limb joint	5130	PCYT1A
HP:0009810	Abnormality of upper limb joint	6736	SRY
HP:0009810	Abnormality of upper limb joint	613	BCR
HP:0009810	Abnormality of upper limb joint	8318	CDC45
HP:0009810	Abnormality of upper limb joint	9361	LONP1
HP:0009810	Abnormality of upper limb joint	57492	ARID1B
HP:0009810	Abnormality of upper limb joint	118429	ANTXR2
HP:0009810	Abnormality of upper limb joint	2254	FGF9
HP:0009810	Abnormality of upper limb joint	126792	B3GALT6
HP:0009810	Abnormality of upper limb joint	57167	SALL4
HP:0009810	Abnormality of upper limb joint	10084	PQBP1
HP:0009810	Abnormality of upper limb joint	10682	EBP
HP:0009810	Abnormality of upper limb joint	9150	CTDP1
HP:0009810	Abnormality of upper limb joint	2006	ELN
HP:0009810	Abnormality of upper limb joint	23522	KAT6B
HP:0009810	Abnormality of upper limb joint	51199	NIN
HP:0009809	Abnormality of upper limb metaphysis	2778	GNAS
HP:0000177	Abnormality of upper lip	9321	TRIP11
HP:0000177	Abnormality of upper lip	57492	ARID1B
HP:0000177	Abnormality of upper lip	7341	SUMO1
HP:0000177	Abnormality of upper lip	8516	ITGA8
HP:0000177	Abnormality of upper lip	6496	SIX3
HP:0000177	Abnormality of upper lip	4488	MSX2
HP:0000177	Abnormality of upper lip	9652	TTC37
HP:0000177	Abnormality of upper lip	51660	MPC1
HP:0000177	Abnormality of upper lip	7681	MKRN3
HP:0000177	Abnormality of upper lip	613	BCR
HP:0000177	Abnormality of upper lip	83696	TRAPPC9
HP:0000177	Abnormality of upper lip	6899	TBX1
HP:0000177	Abnormality of upper lip	126792	B3GALT6
HP:0000177	Abnormality of upper lip	23394	ADNP
HP:0000177	Abnormality of upper lip	10084	PQBP1
HP:0000177	Abnormality of upper lip	283489	CHAMP1
HP:0000177	Abnormality of upper lip	1917	EEF1A2
HP:0000177	Abnormality of upper lip	79813	EHMT1
HP:0000177	Abnormality of upper lip	2006	ELN
HP:0000177	Abnormality of upper lip	23522	KAT6B
HP:0011339	Abnormality of upper lip vermillion	7681	MKRN3
HP:0011339	Abnormality of upper lip vermillion	23394	ADNP
HP:0011339	Abnormality of upper lip vermillion	10084	PQBP1
HP:0011339	Abnormality of upper lip vermillion	613	BCR
HP:0011339	Abnormality of upper lip vermillion	283489	CHAMP1
HP:0011339	Abnormality of upper lip vermillion	1917	EEF1A2
HP:0011339	Abnormality of upper lip vermillion	57492	ARID1B
HP:0011339	Abnormality of upper lip vermillion	79813	EHMT1
HP:0011339	Abnormality of upper lip vermillion	51660	MPC1
HP:0011339	Abnormality of upper lip vermillion	83696	TRAPPC9
HP:0011280	Abnormality of urine calcium concentration	2006	ELN
HP:0003110	Abnormality of urine homeostasis	7225	TRPC6
HP:0003110	Abnormality of urine homeostasis	5230	PGK1
HP:0003110	Abnormality of urine homeostasis	3242	HPD
HP:0003110	Abnormality of urine homeostasis	84189	SLITRK6
HP:0003110	Abnormality of urine homeostasis	26873	OPLAH
HP:0003110	Abnormality of urine homeostasis	8516	ITGA8
HP:0003110	Abnormality of urine homeostasis	51660	MPC1
HP:0003110	Abnormality of urine homeostasis	4594	MUT
HP:0003110	Abnormality of urine homeostasis	10841	FTCD
HP:0003110	Abnormality of urine homeostasis	56922	MCCC1
HP:0003110	Abnormality of urine homeostasis	2778	GNAS
HP:0003110	Abnormality of urine homeostasis	2799	GNS
HP:0003110	Abnormality of urine homeostasis	2006	ELN
HP:0000504	Abnormality of vision	2189	FANCG
HP:0000504	Abnormality of vision	57492	ARID1B
HP:0000504	Abnormality of vision	6295	SAG
HP:0000504	Abnormality of vision	10518	CIB2
HP:0000504	Abnormality of vision	80208	SPG11
HP:0000504	Abnormality of vision	57697	FANCM
HP:0000504	Abnormality of vision	4488	MSX2
HP:0000504	Abnormality of vision	80270	HSD3B7
HP:0000504	Abnormality of vision	4646	MYO6
HP:0000504	Abnormality of vision	6736	SRY
HP:0000504	Abnormality of vision	4729	NDUFV2
HP:0000504	Abnormality of vision	10892	MALT1
HP:0000504	Abnormality of vision	8913	CACNA1G
HP:0000504	Abnormality of vision	2778	GNAS
HP:0000504	Abnormality of vision	64218	SEMA4A
HP:0000504	Abnormality of vision	6899	TBX1
HP:0000504	Abnormality of vision	811	CALR
HP:0000504	Abnormality of vision	23394	ADNP
HP:0000504	Abnormality of vision	9184	BUB3
HP:0000504	Abnormality of vision	5119	CHMP1A
HP:0000504	Abnormality of vision	5130	PCYT1A
HP:0000504	Abnormality of vision	5148	PDE6G
HP:0000504	Abnormality of vision	1123	CHN1
HP:0000504	Abnormality of vision	1130	LYST
HP:0000504	Abnormality of vision	5230	PGK1
HP:0000504	Abnormality of vision	1181	CLCN2
HP:0000504	Abnormality of vision	3257	HPS1
HP:0000504	Abnormality of vision	9526	MPDU1
HP:0000504	Abnormality of vision	1414	CRYBB1
HP:0000504	Abnormality of vision	124590	USH1G
HP:0000504	Abnormality of vision	3798	KIF5A
HP:0000504	Abnormality of vision	83696	TRAPPC9
HP:0000504	Abnormality of vision	7957	EPM2A
HP:0000504	Abnormality of vision	57167	SALL4
HP:0000504	Abnormality of vision	10084	PQBP1
HP:0000504	Abnormality of vision	1908	EDN3
HP:0000504	Abnormality of vision	346007	EYS
HP:0000504	Abnormality of vision	51128	SAR1B
HP:0000504	Abnormality of vision	4047	LSS
HP:0000504	Abnormality of vision	2006	ELN
HP:0000649	Abnormality of visual evoked potentials	3908	LAMA2
HP:0008372	Abnormality of vitamin A metabolism	53630	BCO1
HP:0004340	Abnormality of vitamin B metabolism	4594	MUT
HP:0004341	Abnormality of vitamin B12 metabolism	4594	MUT
HP:0100508	Abnormality of vitamin metabolism	51128	SAR1B
HP:0100508	Abnormality of vitamin metabolism	4594	MUT
HP:0100508	Abnormality of vitamin metabolism	53630	BCO1
HP:0008544	Abnormally folded helix	9361	LONP1
HP:0008544	Abnormally folded helix	6899	TBX1
HP:0001090	Abnormally large globe	1605	DAG1
HP:0008067	Abnormally lax or hyperextensible skin	10516	FBLN5
HP:0008067	Abnormally lax or hyperextensible skin	126792	B3GALT6
HP:0008067	Abnormally lax or hyperextensible skin	112752	IFT43
HP:0008067	Abnormally lax or hyperextensible skin	2934	GSN
HP:0008067	Abnormally lax or hyperextensible skin	57492	ARID1B
HP:0008067	Abnormally lax or hyperextensible skin	1954	MEGF8
HP:0008067	Abnormally lax or hyperextensible skin	2006	ELN
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	1536	CYBB
HP:0008187	Absence of secondary sex characteristics	6736	SRY
HP:0002121	Absence seizures	3908	LAMA2
HP:0002121	Absence seizures	79813	EHMT1
HP:0002121	Absence seizures	2566	GABRG2
HP:0002121	Absence seizures	57492	ARID1B
HP:0002121	Absence seizures	7957	EPM2A
HP:0001032	Absent distal interphalangeal creases	5932	RBBP8
HP:0000387	Absent earlobe	5932	RBBP8
HP:0001817	Absent fingernail	613	BCR
HP:0003953	Absent forearm bone	1123	CHN1
HP:0003953	Absent forearm bone	57167	SALL4
HP:0005780	Absent fourth finger distal interphalangeal crease	5932	RBBP8
HP:0005273	Absent nasal septal cartilage	6496	SIX3
HP:0004599	Absent or minimally ossified vertebral bodies	9321	TRIP11
HP:0006109	Absent phalangeal crease	5932	RBBP8
HP:0003974	Absent radius	1123	CHN1
HP:0003974	Absent radius	57167	SALL4
HP:0001331	Absent septum pellucidum	79813	EHMT1
HP:0001331	Absent septum pellucidum	1605	DAG1
HP:0001344	Absent speech	9526	MPDU1
HP:0001344	Absent speech	1605	DAG1
HP:0001344	Absent speech	2799	GNS
HP:0001344	Absent speech	5119	CHMP1A
HP:0010469	Absent testis	57697	FANCM
HP:0010469	Absent testis	2189	FANCG
HP:0009777	Absent thumb	57167	SALL4
HP:0010760	Absent toe	57492	ARID1B
HP:0010760	Absent toe	57167	SALL4
HP:0001802	Absent toenail	613	BCR
HP:0001927	Acanthocytosis	51128	SAR1B
HP:0000956	Acanthosis nigricans	5506	PPP1R3A
HP:0005616	Accelerated skeletal maturation	7681	MKRN3
HP:0005616	Accelerated skeletal maturation	57492	ARID1B
HP:0008807	Acetabular dysplasia	9775	EIF4A3
HP:0002571	Achalasia	4842	NOS1
HP:0011985	Acholic stools	80270	HSD3B7
HP:0001941	Acidosis	4645	MYO5B
HP:0001941	Acidosis	56922	MCCC1
HP:0001941	Acidosis	60528	ELAC2
HP:0001941	Acidosis	4729	NDUFV2
HP:0001941	Acidosis	3242	HPD
HP:0001941	Acidosis	8452	CUL3
HP:0001941	Acidosis	9997	SCO2
HP:0001941	Acidosis	23417	MLYCD
HP:0001941	Acidosis	445	ASS1
HP:0001941	Acidosis	51660	MPC1
HP:0001941	Acidosis	4594	MUT
HP:0012072	Aciduria	10841	FTCD
HP:0012072	Aciduria	56922	MCCC1
HP:0012072	Aciduria	3242	HPD
HP:0012072	Aciduria	51660	MPC1
HP:0012072	Aciduria	4594	MUT
HP:0012072	Aciduria	26873	OPLAH
HP:0001061	Acne	6899	TBX1
HP:0012060	Acral lentiginous melanoma	7486	WRN
HP:0001063	Acrocyanosis	811	CALR
HP:0002345	Action tremor	9150	CTDP1
HP:0100282	Acute colitis	26873	OPLAH
HP:0006846	Acute encephalopathy	4729	NDUFV2
HP:0006573	Acute hepatic steatosis	56922	MCCC1
HP:0008281	Acute hyperammonemia	56922	MCCC1
HP:0002488	Acute leukemia	811	CALR
HP:0002488	Acute leukemia	9184	BUB3
HP:0002488	Acute leukemia	613	BCR
HP:0006721	Acute lymphoblastic leukemia	9184	BUB3
HP:0006721	Acute lymphoblastic leukemia	613	BCR
HP:0006965	Acute necrotizing encephalopathy	4729	NDUFV2
HP:0008942	Acute rhabdomyolysis	9150	CTDP1
HP:0001181	Adducted thumb	2006	ELN
HP:0001181	Adducted thumb	1908	EDN3
HP:0008887	Adipose tissue loss	5506	PPP1R3A
HP:0008221	Adrenal hyperplasia	2778	GNAS
HP:0000835	Adrenal hypoplasia	6496	SIX3
HP:0000846	Adrenal insufficiency	7681	MKRN3
HP:0000846	Adrenal insufficiency	56246	MRAP
HP:0000846	Adrenal insufficiency	6736	SRY
HP:0002717	Adrenal overactivity	2778	GNAS
HP:0003581	Adult onset	6687	SPG7
HP:0003581	Adult onset	80208	SPG11
HP:0003581	Adult onset	79188	TMEM43
HP:0003581	Adult onset	79719	AAGAB
HP:0003581	Adult onset	2934	GSN
HP:0003581	Adult onset	5506	PPP1R3A
HP:0003581	Adult onset	6575	SLC20A2
HP:0003581	Adult onset	2778	GNAS
HP:0003581	Adult onset	57592	ZNF687
HP:0006288	Advanced eruption of teeth	79813	EHMT1
HP:0004233	Advanced ossification of carpal bones	126792	B3GALT6
HP:0004432	Agammaglobulinemia	4261	CIITA
HP:0004432	Agammaglobulinemia	56262	LRRC8A
HP:0004432	Agammaglobulinemia	3561	IL2RG
HP:0002251	Aganglionic megacolon	126792	B3GALT6
HP:0002251	Aganglionic megacolon	57167	SALL4
HP:0002251	Aganglionic megacolon	57697	FANCM
HP:0002251	Aganglionic megacolon	1908	EDN3
HP:0002251	Aganglionic megacolon	2189	FANCG
HP:0002251	Aganglionic megacolon	79600	TCTN1
HP:0002251	Aganglionic megacolon	6899	TBX1
HP:0011420	Age of death	4645	MYO5B
HP:0011420	Age of death	9321	TRIP11
HP:0011420	Age of death	118429	ANTXR2
HP:0011420	Age of death	9997	SCO2
HP:0011420	Age of death	10084	PQBP1
HP:0011420	Age of death	2006	ELN
HP:0007868	Age-related macular degeneration	10516	FBLN5
HP:0006289	Agenesis of central incisor	9775	EIF4A3
HP:0001274	Agenesis of corpus callosum	54820	NDE1
HP:0001274	Agenesis of corpus callosum	10300	KATNB1
HP:0001274	Agenesis of corpus callosum	1605	DAG1
HP:0001274	Agenesis of corpus callosum	80208	SPG11
HP:0001274	Agenesis of corpus callosum	6496	SIX3
HP:0001274	Agenesis of corpus callosum	57492	ARID1B
HP:0001274	Agenesis of corpus callosum	79813	EHMT1
HP:0001274	Agenesis of corpus callosum	23522	KAT6B
HP:0006485	Agenesis of incisor	9775	EIF4A3
HP:0006355	Agenesis of mandibular central incisor	9775	EIF4A3
HP:0200161	Agenesis of mandibular incisor	9775	EIF4A3
HP:0000718	Aggressive behavior	6660	SOX5
HP:0000718	Aggressive behavior	288	ANK3
HP:0000718	Aggressive behavior	5932	RBBP8
HP:0000718	Aggressive behavior	1917	EEF1A2
HP:0000718	Aggressive behavior	55180	LINS1
HP:0000718	Aggressive behavior	57492	ARID1B
HP:0000718	Aggressive behavior	79813	EHMT1
HP:0000718	Aggressive behavior	6899	TBX1
HP:0000713	Agitation	2778	GNAS
HP:0001022	Albinism	3257	HPS1
HP:0001948	Alkalosis	445	ASS1
HP:0007874	Almond-shaped palpebral fissure	7681	MKRN3
HP:0007874	Almond-shaped palpebral fissure	2189	FANCG
HP:0007874	Almond-shaped palpebral fissure	57697	FANCM
HP:0001596	Alopecia	57492	ARID1B
HP:0001596	Alopecia	10682	EBP
HP:0001596	Alopecia	3561	IL2RG
HP:0002293	Alopecia of scalp	10682	EBP
HP:0100576	Amaurosis fugax	811	CALR
HP:0000062	Ambiguous genitalia	6736	SRY
HP:0000062	Ambiguous genitalia	9184	BUB3
HP:0000061	Ambiguous genitalia, female	6736	SRY
HP:0000033	Ambiguous genitalia, male	6736	SRY
HP:0000646	Amblyopia	1414	CRYBB1
HP:0000646	Amblyopia	2006	ELN
HP:0000646	Amblyopia	1123	CHN1
HP:0000646	Amblyopia	1130	LYST
HP:0000646	Amblyopia	6899	TBX1
HP:0000141	Amenorrhea	7681	MKRN3
HP:0000141	Amenorrhea	7486	WRN
HP:0000141	Amenorrhea	8516	ITGA8
HP:0000141	Amenorrhea	6736	SRY
HP:0000141	Amenorrhea	5506	PPP1R3A
HP:0000141	Amenorrhea	9150	CTDP1
HP:0000141	Amenorrhea	51199	NIN
HP:0003355	Aminoaciduria	10841	FTCD
HP:0003355	Aminoaciduria	26873	OPLAH
HP:0011034	Amyloidosis	2934	GSN
HP:0007354	Amyotrophic lateral sclerosis	80208	SPG11
HP:0002023	Anal atresia	57167	SALL4
HP:0002023	Anal atresia	57697	FANCM
HP:0002023	Anal atresia	10084	PQBP1
HP:0002023	Anal atresia	8318	CDC45
HP:0002023	Anal atresia	2189	FANCG
HP:0002023	Anal atresia	9361	LONP1
HP:0002023	Anal atresia	6899	TBX1
HP:0002025	Anal stenosis	57167	SALL4
HP:0002025	Anal stenosis	8318	CDC45
HP:0001903	Anemia	5156	PDGFRA
HP:0001903	Anemia	10841	FTCD
HP:0001903	Anemia	1130	LYST
HP:0001903	Anemia	5230	PGK1
HP:0001903	Anemia	10892	MALT1
HP:0001903	Anemia	2189	FANCG
HP:0001903	Anemia	57697	FANCM
HP:0001903	Anemia	7018	TF
HP:0001903	Anemia	7128	TNFAIP3
HP:0001903	Anemia	3561	IL2RG
HP:0001903	Anemia	4594	MUT
HP:0011895	Anemia due to reduced life span of red cells	7128	TNFAIP3
HP:0011895	Anemia due to reduced life span of red cells	5230	PGK1
HP:0010972	Anemia of inadequate production	10841	FTCD
HP:0010972	Anemia of inadequate production	57697	FANCM
HP:0010972	Anemia of inadequate production	7018	TF
HP:0010972	Anemia of inadequate production	2189	FANCG
HP:0002323	Anencephaly	54820	NDE1
HP:0002323	Anencephaly	25939	SAMHD1
HP:0002323	Anencephaly	6899	TBX1
HP:0001681	Angina pectoris	3949	LDLR
HP:0000526	Aniridia	1123	CHN1
HP:0011448	Ankle clonus	80208	SPG11
HP:0011448	Ankle clonus	3798	KIF5A
HP:0006466	Ankle contracture	1605	DAG1
HP:0006466	Ankle contracture	80208	SPG11
HP:0009755	Ankyloblepharon	30062	RAX
HP:0010296	Ankyloglossia	613	BCR
HP:0006504	Anomaly of the limb diaphyses	5130	PCYT1A
HP:0006504	Anomaly of the limb diaphyses	126792	B3GALT6
HP:0006504	Anomaly of the limb diaphyses	613	BCR
HP:0006504	Anomaly of the limb diaphyses	8318	CDC45
HP:0006504	Anomaly of the limb diaphyses	9361	LONP1
HP:0006504	Anomaly of the limb diaphyses	1954	MEGF8
HP:0006504	Anomaly of the limb diaphyses	2006	ELN
HP:0001798	Anonychia	343637	RSPO4
HP:0001798	Anonychia	613	BCR
HP:0000528	Anophthalmia	1605	DAG1
HP:0000528	Anophthalmia	30062	RAX
HP:0012732	Anorectal anomaly	1536	CYBB
HP:0012732	Anorectal anomaly	5156	PDGFRA
HP:0012732	Anorectal anomaly	1123	CHN1
HP:0012732	Anorectal anomaly	8318	CDC45
HP:0012732	Anorectal anomaly	2189	FANCG
HP:0012732	Anorectal anomaly	9361	LONP1
HP:0012732	Anorectal anomaly	6899	TBX1
HP:0012732	Anorectal anomaly	57167	SALL4
HP:0012732	Anorectal anomaly	57697	FANCM
HP:0012732	Anorectal anomaly	10084	PQBP1
HP:0012732	Anorectal anomaly	2006	ELN
HP:0002039	Anorexia	4594	MUT
HP:0009892	Anotia	8318	CDC45
HP:0009908	Anterior creases of earlobe	6899	TBX1
HP:0000830	Anterior hypopituitarism	7681	MKRN3
HP:0000830	Anterior hypopituitarism	2778	GNAS
HP:0010626	Anterior pituitary agenesis	6496	SIX3
HP:0010625	Anterior pituitary dysgenesis	6496	SIX3
HP:0012122	Anterior uveitis	7128	TNFAIP3
HP:0000463	Anteverted nares	5148	PDE6G
HP:0000463	Anteverted nares	1123	CHN1
HP:0000463	Anteverted nares	9321	TRIP11
HP:0000463	Anteverted nares	112752	IFT43
HP:0000463	Anteverted nares	9361	LONP1
HP:0000463	Anteverted nares	57492	ARID1B
HP:0000463	Anteverted nares	6295	SAG
HP:0000463	Anteverted nares	64218	SEMA4A
HP:0000463	Anteverted nares	2799	GNS
HP:0000463	Anteverted nares	79600	TCTN1
HP:0000463	Anteverted nares	346007	EYS
HP:0000463	Anteverted nares	1954	MEGF8
HP:0000463	Anteverted nares	9652	TTC37
HP:0000463	Anteverted nares	79813	EHMT1
HP:0000463	Anteverted nares	2006	ELN
HP:0003493	Antinuclear antibody positivity	23534	TNPO3
HP:0003493	Antinuclear antibody positivity	7128	TNFAIP3
HP:0000739	Anxiety	6660	SOX5
HP:0000739	Anxiety	10518	CIB2
HP:0000739	Anxiety	1861	TOR1A
HP:0000739	Anxiety	10084	PQBP1
HP:0000739	Anxiety	124590	USH1G
HP:0000739	Anxiety	79813	EHMT1
HP:0000739	Anxiety	2006	ELN
HP:0000739	Anxiety	2778	GNAS
HP:0000739	Anxiety	6899	TBX1
HP:0004942	Aortic aneurysm	10516	FBLN5
HP:0004942	Aortic aneurysm	2006	ELN
HP:0004942	Aortic aneurysm	613	BCR
HP:0004942	Aortic aneurysm	4091	SMAD6
HP:0005113	Aortic arch aneurysm	2006	ELN
HP:0005113	Aortic arch aneurysm	4091	SMAD6
HP:0012397	Aortic atherosclerosis	3949	LDLR
HP:0002647	Aortic dissection	2006	ELN
HP:0002647	Aortic dissection	4091	SMAD6
HP:0001659	Aortic regurgitation	9652	TTC37
HP:0001659	Aortic regurgitation	79813	EHMT1
HP:0001659	Aortic regurgitation	2006	ELN
HP:0001659	Aortic regurgitation	9184	BUB3
HP:0001659	Aortic regurgitation	613	BCR
HP:0001659	Aortic regurgitation	4091	SMAD6
HP:0002616	Aortic root aneurysm	10516	FBLN5
HP:0002616	Aortic root aneurysm	2006	ELN
HP:0004380	Aortic valve calcification	4091	SMAD6
HP:0001650	Aortic valve stenosis	10516	FBLN5
HP:0001650	Aortic valve stenosis	10682	EBP
HP:0001650	Aortic valve stenosis	79813	EHMT1
HP:0001650	Aortic valve stenosis	126792	B3GALT6
HP:0001650	Aortic valve stenosis	2006	ELN
HP:0001650	Aortic valve stenosis	3949	LDLR
HP:0001650	Aortic valve stenosis	4091	SMAD6
HP:0000741	Apathy	79813	EHMT1
HP:0002381	Aphasia	57492	ARID1B
HP:0002381	Aphasia	79813	EHMT1
HP:0001057	Aplasia cutis congenita	4488	MSX2
HP:0007385	Aplasia cutis congenita of scalp	4488	MSX2
HP:0009825	Aplasia involving bones of the extremities	1954	MEGF8
HP:0009823	Aplasia involving bones of the upper limbs	1954	MEGF8
HP:0009822	Aplasia involving forearm bones	1123	CHN1
HP:0009822	Aplasia involving forearm bones	57167	SALL4
HP:0010048	Aplasia of metacarpal bones	57167	SALL4
HP:0008753	Aplasia of the epiglottis	9775	EIF4A3
HP:0009380	Aplasia of the fingers	57167	SALL4
HP:0009380	Aplasia of the fingers	1954	MEGF8
HP:0010239	Aplasia of the middle phalanx of the hand	1954	MEGF8
HP:0009927	Aplasia of the nose	6496	SIX3
HP:0009802	Aplasia of the phalanges of the hand	1954	MEGF8
HP:0011381	Aplasia of the semicircular canal	23522	KAT6B
HP:0000151	Aplasia of the uterus	57492	ARID1B
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2189	FANCG
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	2006	ELN
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	57697	FANCM
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1123	CHN1
HP:0008056	Aplasia/Hypoplasia affecting the eye	1605	DAG1
HP:0008056	Aplasia/Hypoplasia affecting the eye	1123	CHN1
HP:0008056	Aplasia/Hypoplasia affecting the eye	1130	LYST
HP:0008056	Aplasia/Hypoplasia affecting the eye	2189	FANCG
HP:0008056	Aplasia/Hypoplasia affecting the eye	6295	SAG
HP:0008056	Aplasia/Hypoplasia affecting the eye	6899	TBX1
HP:0008056	Aplasia/Hypoplasia affecting the eye	5932	RBBP8
HP:0008056	Aplasia/Hypoplasia affecting the eye	57167	SALL4
HP:0008056	Aplasia/Hypoplasia affecting the eye	6496	SIX3
HP:0008056	Aplasia/Hypoplasia affecting the eye	57697	FANCM
HP:0008056	Aplasia/Hypoplasia affecting the eye	10084	PQBP1
HP:0008056	Aplasia/Hypoplasia affecting the eye	30062	RAX
HP:0008056	Aplasia/Hypoplasia affecting the eye	10682	EBP
HP:0008056	Aplasia/Hypoplasia affecting the eye	9150	CTDP1
HP:0008056	Aplasia/Hypoplasia affecting the eye	2006	ELN
HP:0008056	Aplasia/Hypoplasia affecting the eye	9184	BUB3
HP:0008057	Aplasia/Hypoplasia affecting the fundus	6295	SAG
HP:0008057	Aplasia/Hypoplasia affecting the fundus	57167	SALL4
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1123	CHN1
HP:0008057	Aplasia/Hypoplasia affecting the fundus	1130	LYST
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2189	FANCG
HP:0008055	Aplasia/Hypoplasia affecting the uvea	2006	ELN
HP:0008055	Aplasia/Hypoplasia affecting the uvea	57697	FANCM
HP:0008055	Aplasia/Hypoplasia affecting the uvea	1123	CHN1
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	7681	MKRN3
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	6736	SRY
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	9321	TRIP11
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57492	ARID1B
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	2778	GNAS
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	126792	B3GALT6
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	57167	SALL4
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	3561	IL2RG
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1123	CHN1
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9321	TRIP11
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	112752	IFT43
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	8318	CDC45
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2189	FANCG
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57492	ARID1B
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	7341	SUMO1
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	57697	FANCM
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10682	EBP
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9775	EIF4A3
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6736	SRY
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	6899	TBX1
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	5932	RBBP8
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	126792	B3GALT6
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	10084	PQBP1
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	1909	EDNRA
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9150	CTDP1
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	2006	ELN
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	9184	BUB3
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	23522	KAT6B
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	126792	B3GALT6
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	57167	SALL4
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	9321	TRIP11
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	8318	CDC45
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	4488	MSX2
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	57492	ARID1B
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	57167	SALL4
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10300	KATNB1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8318	CDC45
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2189	FANCG
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57492	ARID1B
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6305	SBF1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10516	FBLN5
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10518	CIB2
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80208	SPG11
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6496	SIX3
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57697	FANCM
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10617	STAMBP
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6575	SLC20A2
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51660	MPC1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113179	ADAT3
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6687	SPG7
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	613	BCR
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6899	TBX1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	283489	CHAMP1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9150	CTDP1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9184	BUB3
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5119	CHMP1A
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1123	CHN1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60528	ELAC2
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9361	LONP1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7443	VRK1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9526	MPDU1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25939	SAMHD1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7546	ZIC2
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54820	NDE1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1605	DAG1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5723	PSPH
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	124590	USH1G
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3798	KIF5A
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83696	TRAPPC9
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79600	TCTN1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5932	RBBP8
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1917	EEF1A2
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55180	LINS1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79813	EHMT1
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2006	ELN
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51199	NIN
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	126792	B3GALT6
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5130	PCYT1A
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9775	EIF4A3
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	126792	B3GALT6
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	57167	SALL4
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6736	SRY
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9361	LONP1
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS
HP:0009128	Aplasia/Hypoplasia involving the musculature of the extremities	57167	SALL4
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	57167	SALL4
HP:0009924	Aplasia/Hypoplasia involving the nose	124590	USH1G
HP:0009924	Aplasia/Hypoplasia involving the nose	6496	SIX3
HP:0009924	Aplasia/Hypoplasia involving the nose	613	BCR
HP:0009924	Aplasia/Hypoplasia involving the nose	6899	TBX1
HP:0009924	Aplasia/Hypoplasia involving the nose	1908	EDN3
HP:0009103	Aplasia/Hypoplasia involving the pelvis	126792	B3GALT6
HP:0009103	Aplasia/Hypoplasia involving the pelvis	23522	KAT6B
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	57167	SALL4
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1605	DAG1
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	57167	SALL4
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	9361	LONP1
HP:0006265	Aplasia/Hypoplasia of fingers	5130	PCYT1A
HP:0006265	Aplasia/Hypoplasia of fingers	9775	EIF4A3
HP:0006265	Aplasia/Hypoplasia of fingers	1123	CHN1
HP:0006265	Aplasia/Hypoplasia of fingers	613	BCR
HP:0006265	Aplasia/Hypoplasia of fingers	112752	IFT43
HP:0006265	Aplasia/Hypoplasia of fingers	2189	FANCG
HP:0006265	Aplasia/Hypoplasia of fingers	57492	ARID1B
HP:0006265	Aplasia/Hypoplasia of fingers	2778	GNAS
HP:0006265	Aplasia/Hypoplasia of fingers	5932	RBBP8
HP:0006265	Aplasia/Hypoplasia of fingers	57167	SALL4
HP:0006265	Aplasia/Hypoplasia of fingers	57697	FANCM
HP:0006265	Aplasia/Hypoplasia of fingers	10617	STAMBP
HP:0006265	Aplasia/Hypoplasia of fingers	1954	MEGF8
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	6736	SRY
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	2778	GNAS
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	57167	SALL4
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	2778	GNAS
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	6736	SRY
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	2778	GNAS
HP:0006262	Aplasia/Hypoplasia of the 5th finger	57492	ARID1B
HP:0006262	Aplasia/Hypoplasia of the 5th finger	5932	RBBP8
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	2778	GNAS
HP:0010343	Aplasia/Hypoplasia of the 5th toe	57492	ARID1B
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	9775	EIF4A3
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	23522	KAT6B
HP:0007362	Aplasia/Hypoplasia of the brainstem	54820	NDE1
HP:0007362	Aplasia/Hypoplasia of the brainstem	5119	CHMP1A
HP:0010311	Aplasia/Hypoplasia of the breasts	8318	CDC45
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5130	PCYT1A
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1605	DAG1
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2683	B4GALT1
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57492	ARID1B
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10682	EBP
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9184	BUB3
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79600	TCTN1
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54820	NDE1
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1605	DAG1
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57492	ARID1B
HP:0007360	Aplasia/Hypoplasia of the cerebellum	124590	USH1G
HP:0007360	Aplasia/Hypoplasia of the cerebellum	83696	TRAPPC9
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7443	VRK1
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10518	CIB2
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5932	RBBP8
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6496	SIX3
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2006	ELN
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9184	BUB3
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5119	CHMP1A
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10300	KATNB1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8318	CDC45
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2189	FANCG
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57492	ARID1B
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6305	SBF1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10516	FBLN5
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80208	SPG11
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57697	FANCM
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10617	STAMBP
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6575	SLC20A2
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51660	MPC1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113179	ADAT3
HP:0007364	Aplasia/Hypoplasia of the cerebrum	613	BCR
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283489	CHAMP1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9184	BUB3
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5119	CHMP1A
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1123	CHN1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60528	ELAC2
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9361	LONP1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9526	MPDU1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25939	SAMHD1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54820	NDE1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1605	DAG1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5723	PSPH
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3798	KIF5A
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83696	TRAPPC9
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79600	TCTN1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5932	RBBP8
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1917	EEF1A2
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55180	LINS1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79813	EHMT1
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2006	ELN
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51199	NIN
HP:0006710	Aplasia/Hypoplasia of the clavicles	4488	MSX2
HP:0006710	Aplasia/Hypoplasia of the clavicles	57167	SALL4
HP:0006710	Aplasia/Hypoplasia of the clavicles	9321	TRIP11
HP:0006710	Aplasia/Hypoplasia of the clavicles	8318	CDC45
HP:0040255	Aplasia/Hypoplasia of the clitoris	7681	MKRN3
HP:0040255	Aplasia/Hypoplasia of the clitoris	8318	CDC45
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10300	KATNB1
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9361	LONP1
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57492	ARID1B
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80208	SPG11
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10617	STAMBP
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54820	NDE1
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1605	DAG1
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83696	TRAPPC9
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79600	TCTN1
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79813	EHMT1
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9184	BUB3
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23522	KAT6B
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5119	CHMP1A
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57492	ARID1B
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57167	SALL4
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	613	BCR
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	112752	IFT43
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10617	STAMBP
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	57492	ARID1B
HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	57492	ARID1B
HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	57492	ARID1B
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	57167	SALL4
HP:0008771	Aplasia/Hypoplasia of the ear	4488	MSX2
HP:0008771	Aplasia/Hypoplasia of the ear	9652	TTC37
HP:0008771	Aplasia/Hypoplasia of the ear	8318	CDC45
HP:0008771	Aplasia/Hypoplasia of the ear	51199	NIN
HP:0009906	Aplasia/Hypoplasia of the earlobes	5932	RBBP8
HP:0009906	Aplasia/Hypoplasia of the earlobes	6899	TBX1
HP:0008772	Aplasia/Hypoplasia of the external ear	4488	MSX2
HP:0008772	Aplasia/Hypoplasia of the external ear	9652	TTC37
HP:0008772	Aplasia/Hypoplasia of the external ear	8318	CDC45
HP:0008772	Aplasia/Hypoplasia of the external ear	51199	NIN
HP:0100840	Aplasia/Hypoplasia of the eyebrow	126792	B3GALT6
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10084	PQBP1
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1909	EDNRA
HP:0100840	Aplasia/Hypoplasia of the eyebrow	8318	CDC45
HP:0100840	Aplasia/Hypoplasia of the eyebrow	1954	MEGF8
HP:0100840	Aplasia/Hypoplasia of the eyebrow	10682	EBP
HP:0100840	Aplasia/Hypoplasia of the eyebrow	3561	IL2RG
HP:0011226	Aplasia/Hypoplasia of the eyelid	25939	SAMHD1
HP:0011226	Aplasia/Hypoplasia of the eyelid	23394	ADNP
HP:0011226	Aplasia/Hypoplasia of the eyelid	1909	EDNRA
HP:0006492	Aplasia/Hypoplasia of the fibula	9775	EIF4A3
HP:0008362	Aplasia/Hypoplasia of the hallux	57167	SALL4
HP:0008053	Aplasia/Hypoplasia of the iris	2189	FANCG
HP:0008053	Aplasia/Hypoplasia of the iris	2006	ELN
HP:0008053	Aplasia/Hypoplasia of the iris	57697	FANCM
HP:0008053	Aplasia/Hypoplasia of the iris	1123	CHN1
HP:0006703	Aplasia/Hypoplasia of the lungs	8516	ITGA8
HP:0006703	Aplasia/Hypoplasia of the lungs	9321	TRIP11
HP:0006703	Aplasia/Hypoplasia of the lungs	8318	CDC45
HP:0006703	Aplasia/Hypoplasia of the lungs	23522	KAT6B
HP:0008059	Aplasia/Hypoplasia of the macula	1130	LYST
HP:0009118	Aplasia/Hypoplasia of the mandible	1123	CHN1
HP:0009118	Aplasia/Hypoplasia of the mandible	9321	TRIP11
HP:0009118	Aplasia/Hypoplasia of the mandible	112752	IFT43
HP:0009118	Aplasia/Hypoplasia of the mandible	8318	CDC45
HP:0009118	Aplasia/Hypoplasia of the mandible	2189	FANCG
HP:0009118	Aplasia/Hypoplasia of the mandible	57492	ARID1B
HP:0009118	Aplasia/Hypoplasia of the mandible	7341	SUMO1
HP:0009118	Aplasia/Hypoplasia of the mandible	57697	FANCM
HP:0009118	Aplasia/Hypoplasia of the mandible	10682	EBP
HP:0009118	Aplasia/Hypoplasia of the mandible	9775	EIF4A3
HP:0009118	Aplasia/Hypoplasia of the mandible	6736	SRY
HP:0009118	Aplasia/Hypoplasia of the mandible	6899	TBX1
HP:0009118	Aplasia/Hypoplasia of the mandible	5932	RBBP8
HP:0009118	Aplasia/Hypoplasia of the mandible	126792	B3GALT6
HP:0009118	Aplasia/Hypoplasia of the mandible	10084	PQBP1
HP:0009118	Aplasia/Hypoplasia of the mandible	1909	EDNRA
HP:0009118	Aplasia/Hypoplasia of the mandible	9150	CTDP1
HP:0009118	Aplasia/Hypoplasia of the mandible	2006	ELN
HP:0009118	Aplasia/Hypoplasia of the mandible	9184	BUB3
HP:0009118	Aplasia/Hypoplasia of the mandible	23522	KAT6B
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1954	MEGF8
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5932	RBBP8
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	5932	RBBP8
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	6443	SGCB
HP:0008386	Aplasia/Hypoplasia of the nails	126792	B3GALT6
HP:0008386	Aplasia/Hypoplasia of the nails	343637	RSPO4
HP:0008386	Aplasia/Hypoplasia of the nails	613	BCR
HP:0008386	Aplasia/Hypoplasia of the nails	112752	IFT43
HP:0008386	Aplasia/Hypoplasia of the nails	10617	STAMBP
HP:0008386	Aplasia/Hypoplasia of the nails	57492	ARID1B
HP:0008386	Aplasia/Hypoplasia of the nails	2006	ELN
HP:0010940	Aplasia/Hypoplasia of the nasal bone	124590	USH1G
HP:0009935	Aplasia/Hypoplasia of the nasal septum	6496	SIX3
HP:0006709	Aplasia/Hypoplasia of the nipples	1954	MEGF8
HP:0008058	Aplasia/Hypoplasia of the optic nerve	6295	SAG
HP:0008058	Aplasia/Hypoplasia of the optic nerve	57167	SALL4
HP:0008058	Aplasia/Hypoplasia of the optic nerve	1123	CHN1
HP:0010462	Aplasia/Hypoplasia of the ovary	6736	SRY
HP:0006498	Aplasia/Hypoplasia of the patella	57492	ARID1B
HP:0006498	Aplasia/Hypoplasia of the patella	23522	KAT6B
HP:0006498	Aplasia/Hypoplasia of the patella	8318	CDC45
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	5932	RBBP8
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	57492	ARID1B
HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	57492	ARID1B
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	5932	RBBP8
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9775	EIF4A3
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57167	SALL4
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	613	BCR
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	112752	IFT43
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	10617	STAMBP
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	9361	LONP1
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	57492	ARID1B
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	1954	MEGF8
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	23522	KAT6B
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	57167	SALL4
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	57492	ARID1B
HP:0009104	Aplasia/Hypoplasia of the pubic bone	23522	KAT6B
HP:0006501	Aplasia/Hypoplasia of the radius	2189	FANCG
HP:0006501	Aplasia/Hypoplasia of the radius	9775	EIF4A3
HP:0006501	Aplasia/Hypoplasia of the radius	57167	SALL4
HP:0006501	Aplasia/Hypoplasia of the radius	57697	FANCM
HP:0006501	Aplasia/Hypoplasia of the radius	1123	CHN1
HP:0006501	Aplasia/Hypoplasia of the radius	9321	TRIP11
HP:0008061	Aplasia/Hypoplasia of the retina	1130	LYST
HP:0006712	Aplasia/Hypoplasia of the ribs	126792	B3GALT6
HP:0006712	Aplasia/Hypoplasia of the ribs	9321	TRIP11
HP:0006713	Aplasia/Hypoplasia of the scapulae	9321	TRIP11
HP:0008065	Aplasia/Hypoplasia of the skin	7486	WRN
HP:0008065	Aplasia/Hypoplasia of the skin	126792	B3GALT6
HP:0008065	Aplasia/Hypoplasia of the skin	4488	MSX2
HP:0008065	Aplasia/Hypoplasia of the skin	118429	ANTXR2
HP:0008065	Aplasia/Hypoplasia of the skin	10682	EBP
HP:0008065	Aplasia/Hypoplasia of the skin	2778	GNAS
HP:0006714	Aplasia/Hypoplasia of the sternum	57492	ARID1B
HP:0010468	Aplasia/Hypoplasia of the testes	7486	WRN
HP:0010468	Aplasia/Hypoplasia of the testes	6736	SRY
HP:0010468	Aplasia/Hypoplasia of the testes	8287	USP9Y
HP:0010468	Aplasia/Hypoplasia of the testes	57697	FANCM
HP:0010468	Aplasia/Hypoplasia of the testes	10084	PQBP1
HP:0010468	Aplasia/Hypoplasia of the testes	2189	FANCG
HP:0010468	Aplasia/Hypoplasia of the testes	9150	CTDP1
HP:0009601	Aplasia/Hypoplasia of the thumb	9775	EIF4A3
HP:0009601	Aplasia/Hypoplasia of the thumb	57167	SALL4
HP:0009601	Aplasia/Hypoplasia of the thumb	1123	CHN1
HP:0010515	Aplasia/Hypoplasia of the thymus	118429	ANTXR2
HP:0010515	Aplasia/Hypoplasia of the thymus	3561	IL2RG
HP:0010515	Aplasia/Hypoplasia of the thymus	6899	TBX1
HP:0005772	Aplasia/Hypoplasia of the tibia	9775	EIF4A3
HP:0010295	Aplasia/Hypoplasia of the tongue	5932	RBBP8
HP:0006495	Aplasia/Hypoplasia of the ulna	2189	FANCG
HP:0006495	Aplasia/Hypoplasia of the ulna	57167	SALL4
HP:0006495	Aplasia/Hypoplasia of the ulna	57697	FANCM
HP:0010293	Aplasia/Hypoplasia of the uvula	57697	FANCM
HP:0010293	Aplasia/Hypoplasia of the uvula	2189	FANCG
HP:0011026	Aplasia/Hypoplasia of the vagina	6736	SRY
HP:0001991	Aplasia/Hypoplasia of toe	57167	SALL4
HP:0001991	Aplasia/Hypoplasia of toe	57492	ARID1B
HP:0001991	Aplasia/Hypoplasia of toe	2778	GNAS
HP:0001991	Aplasia/Hypoplasia of toe	3561	IL2RG
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1123	CHN1
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9321	TRIP11
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	112752	IFT43
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	8318	CDC45
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2189	FANCG
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9361	LONP1
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57492	ARID1B
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	7341	SUMO1
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57697	FANCM
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	4488	MSX2
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10682	EBP
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9775	EIF4A3
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6736	SRY
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	6899	TBX1
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	5932	RBBP8
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	126792	B3GALT6
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	57167	SALL4
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	10084	PQBP1
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	1909	EDNRA
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9150	CTDP1
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	2006	ELN
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	9184	BUB3
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	23522	KAT6B
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5130	PCYT1A
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1123	CHN1
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9321	TRIP11
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	112752	IFT43
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	8318	CDC45
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2189	FANCG
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9361	LONP1
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57492	ARID1B
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2254	FGF9
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7486	WRN
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57697	FANCM
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	10617	STAMBP
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	3561	IL2RG
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	7681	MKRN3
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	9775	EIF4A3
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	6736	SRY
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	613	BCR
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	118429	ANTXR2
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	2778	GNAS
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	5932	RBBP8
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	126792	B3GALT6
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	57167	SALL4
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23394	ADNP
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	1954	MEGF8
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	23522	KAT6B
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7681	MKRN3
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5130	PCYT1A
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9775	EIF4A3
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6736	SRY
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1123	CHN1
HP:0005927	Aplasia/hypoplasia involving bones of the hand	613	BCR
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9321	TRIP11
HP:0005927	Aplasia/hypoplasia involving bones of the hand	112752	IFT43
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2189	FANCG
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9361	LONP1
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57492	ARID1B
HP:0005927	Aplasia/hypoplasia involving bones of the hand	118429	ANTXR2
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2254	FGF9
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5932	RBBP8
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7486	WRN
HP:0005927	Aplasia/hypoplasia involving bones of the hand	126792	B3GALT6
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57167	SALL4
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57697	FANCM
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23394	ADNP
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10617	STAMBP
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1954	MEGF8
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23522	KAT6B
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	7681	MKRN3
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9775	EIF4A3
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	6736	SRY
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	9321	TRIP11
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	8318	CDC45
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57492	ARID1B
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	2778	GNAS
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	126792	B3GALT6
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	57167	SALL4
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	23522	KAT6B
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	3561	IL2RG
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7681	MKRN3
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5130	PCYT1A
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9775	EIF4A3
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	6736	SRY
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1123	CHN1
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	613	BCR
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9321	TRIP11
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	112752	IFT43
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2189	FANCG
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	9361	LONP1
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57492	ARID1B
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	118429	ANTXR2
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2254	FGF9
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	2778	GNAS
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	5932	RBBP8
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	7486	WRN
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	126792	B3GALT6
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57167	SALL4
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	57697	FANCM
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23394	ADNP
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	10617	STAMBP
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	1954	MEGF8
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	23522	KAT6B
HP:0006503	Aplasia/hypoplasia involving forearm bones	2189	FANCG
HP:0006503	Aplasia/hypoplasia involving forearm bones	9775	EIF4A3
HP:0006503	Aplasia/hypoplasia involving forearm bones	57167	SALL4
HP:0006503	Aplasia/hypoplasia involving forearm bones	57697	FANCM
HP:0006503	Aplasia/hypoplasia involving forearm bones	1123	CHN1
HP:0006503	Aplasia/hypoplasia involving forearm bones	9321	TRIP11
HP:0009115	Aplasia/hypoplasia involving the skeleton	5130	PCYT1A
HP:0009115	Aplasia/hypoplasia involving the skeleton	1123	CHN1
HP:0009115	Aplasia/hypoplasia involving the skeleton	9321	TRIP11
HP:0009115	Aplasia/hypoplasia involving the skeleton	112752	IFT43
HP:0009115	Aplasia/hypoplasia involving the skeleton	8318	CDC45
HP:0009115	Aplasia/hypoplasia involving the skeleton	2189	FANCG
HP:0009115	Aplasia/hypoplasia involving the skeleton	9361	LONP1
HP:0009115	Aplasia/hypoplasia involving the skeleton	57492	ARID1B
HP:0009115	Aplasia/hypoplasia involving the skeleton	7341	SUMO1
HP:0009115	Aplasia/hypoplasia involving the skeleton	2254	FGF9
HP:0009115	Aplasia/hypoplasia involving the skeleton	7486	WRN
HP:0009115	Aplasia/hypoplasia involving the skeleton	57697	FANCM
HP:0009115	Aplasia/hypoplasia involving the skeleton	10617	STAMBP
HP:0009115	Aplasia/hypoplasia involving the skeleton	4488	MSX2
HP:0009115	Aplasia/hypoplasia involving the skeleton	10682	EBP
HP:0009115	Aplasia/hypoplasia involving the skeleton	3561	IL2RG
HP:0009115	Aplasia/hypoplasia involving the skeleton	7681	MKRN3
HP:0009115	Aplasia/hypoplasia involving the skeleton	9775	EIF4A3
HP:0009115	Aplasia/hypoplasia involving the skeleton	6736	SRY
HP:0009115	Aplasia/hypoplasia involving the skeleton	613	BCR
HP:0009115	Aplasia/hypoplasia involving the skeleton	118429	ANTXR2
HP:0009115	Aplasia/hypoplasia involving the skeleton	2778	GNAS
HP:0009115	Aplasia/hypoplasia involving the skeleton	6899	TBX1
HP:0009115	Aplasia/hypoplasia involving the skeleton	5932	RBBP8
HP:0009115	Aplasia/hypoplasia involving the skeleton	126792	B3GALT6
HP:0009115	Aplasia/hypoplasia involving the skeleton	57167	SALL4
HP:0009115	Aplasia/hypoplasia involving the skeleton	23394	ADNP
HP:0009115	Aplasia/hypoplasia involving the skeleton	10084	PQBP1
HP:0009115	Aplasia/hypoplasia involving the skeleton	1909	EDNRA
HP:0009115	Aplasia/hypoplasia involving the skeleton	1954	MEGF8
HP:0009115	Aplasia/hypoplasia involving the skeleton	9150	CTDP1
HP:0009115	Aplasia/hypoplasia involving the skeleton	2006	ELN
HP:0009115	Aplasia/hypoplasia involving the skeleton	9184	BUB3
HP:0009115	Aplasia/hypoplasia involving the skeleton	23522	KAT6B
HP:0009815	Aplasia/hypoplasia of the extremities	5130	PCYT1A
HP:0009815	Aplasia/hypoplasia of the extremities	1123	CHN1
HP:0009815	Aplasia/hypoplasia of the extremities	9321	TRIP11
HP:0009815	Aplasia/hypoplasia of the extremities	112752	IFT43
HP:0009815	Aplasia/hypoplasia of the extremities	8318	CDC45
HP:0009815	Aplasia/hypoplasia of the extremities	2189	FANCG
HP:0009815	Aplasia/hypoplasia of the extremities	9361	LONP1
HP:0009815	Aplasia/hypoplasia of the extremities	57492	ARID1B
HP:0009815	Aplasia/hypoplasia of the extremities	2254	FGF9
HP:0009815	Aplasia/hypoplasia of the extremities	7486	WRN
HP:0009815	Aplasia/hypoplasia of the extremities	57697	FANCM
HP:0009815	Aplasia/hypoplasia of the extremities	10617	STAMBP
HP:0009815	Aplasia/hypoplasia of the extremities	10682	EBP
HP:0009815	Aplasia/hypoplasia of the extremities	3561	IL2RG
HP:0009815	Aplasia/hypoplasia of the extremities	7681	MKRN3
HP:0009815	Aplasia/hypoplasia of the extremities	9775	EIF4A3
HP:0009815	Aplasia/hypoplasia of the extremities	6736	SRY
HP:0009815	Aplasia/hypoplasia of the extremities	613	BCR
HP:0009815	Aplasia/hypoplasia of the extremities	118429	ANTXR2
HP:0009815	Aplasia/hypoplasia of the extremities	2778	GNAS
HP:0009815	Aplasia/hypoplasia of the extremities	5932	RBBP8
HP:0009815	Aplasia/hypoplasia of the extremities	126792	B3GALT6
HP:0009815	Aplasia/hypoplasia of the extremities	57167	SALL4
HP:0009815	Aplasia/hypoplasia of the extremities	23394	ADNP
HP:0009815	Aplasia/hypoplasia of the extremities	1954	MEGF8
HP:0009815	Aplasia/hypoplasia of the extremities	23522	KAT6B
HP:0005613	Aplasia/hypoplasia of the femur	126792	B3GALT6
HP:0006507	Aplasia/hypoplasia of the humerus	57167	SALL4
HP:0006507	Aplasia/hypoplasia of the humerus	9361	LONP1
HP:0008684	Aplasia/hypoplasia of the uterus	57492	ARID1B
HP:0008684	Aplasia/hypoplasia of the uterus	51199	NIN
HP:0006660	Aplastic clavicles	57167	SALL4
HP:0006660	Aplastic clavicles	8318	CDC45
HP:0010624	Aplastic/hypoplastic toenail	57492	ARID1B
HP:0010624	Aplastic/hypoplastic toenail	2006	ELN
HP:0010624	Aplastic/hypoplastic toenail	613	BCR
HP:0002104	Apnea	7681	MKRN3
HP:0002104	Apnea	9184	BUB3
HP:0002104	Apnea	23522	KAT6B
HP:0002104	Apnea	79600	TCTN1
HP:0002186	Apraxia	4361	MRE11
HP:0002186	Apraxia	7957	EPM2A
HP:0002186	Apraxia	613	BCR
HP:0002186	Apraxia	27286	SRPX2
HP:0002186	Apraxia	79600	TCTN1
HP:0001166	Arachnodactyly	10516	FBLN5
HP:0001166	Arachnodactyly	126792	B3GALT6
HP:0001166	Arachnodactyly	2006	ELN
HP:0001166	Arachnodactyly	10084	PQBP1
HP:0001166	Arachnodactyly	613	BCR
HP:0001166	Arachnodactyly	6899	TBX1
HP:0001284	Areflexia	3908	LAMA2
HP:0001284	Areflexia	1605	DAG1
HP:0001284	Areflexia	1130	LYST
HP:0001284	Areflexia	6305	SBF1
HP:0001284	Areflexia	81846	SBF2
HP:0001284	Areflexia	51128	SAR1B
HP:0002308	Arnold-Chiari malformation	2006	ELN
HP:0002308	Arnold-Chiari malformation	8318	CDC45
HP:0007099	Arnold-Chiari type I malformation	2006	ELN
HP:0007099	Arnold-Chiari type I malformation	8318	CDC45
HP:0002139	Arrhinencephaly	25939	SAMHD1
HP:0002139	Arrhinencephaly	6899	TBX1
HP:0011675	Arrhythmia	6736	SRY
HP:0011675	Arrhythmia	9992	KCNE2
HP:0011675	Arrhythmia	781	CACNA2D1
HP:0011675	Arrhythmia	10516	FBLN5
HP:0011675	Arrhythmia	1837	DTNA
HP:0011675	Arrhythmia	3908	LAMA2
HP:0011675	Arrhythmia	57167	SALL4
HP:0011675	Arrhythmia	79188	TMEM43
HP:0011675	Arrhythmia	3949	LDLR
HP:0011675	Arrhythmia	2006	ELN
HP:0011675	Arrhythmia	23522	KAT6B
HP:0003207	Arterial calcification	3949	LDLR
HP:0003207	Arterial calcification	6575	SLC20A2
HP:0003207	Arterial calcification	4091	SMAD6
HP:0005313	Arterial fibromuscular dysplasia	10516	FBLN5
HP:0100545	Arterial stenosis	10516	FBLN5
HP:0100545	Arterial stenosis	811	CALR
HP:0100545	Arterial stenosis	3949	LDLR
HP:0100545	Arterial stenosis	2006	ELN
HP:0100545	Arterial stenosis	57592	ZNF687
HP:0004420	Arterial thrombosis	811	CALR
HP:0002634	Arteriosclerosis	7486	WRN
HP:0002634	Arteriosclerosis	2006	ELN
HP:0002634	Arteriosclerosis	3949	LDLR
HP:0002634	Arteriosclerosis	57592	ZNF687
HP:0100026	Arteriovenous malformation	2189	FANCG
HP:0100026	Arteriovenous malformation	57697	FANCM
HP:0002829	Arthralgia	3949	LDLR
HP:0002829	Arthralgia	2006	ELN
HP:0001369	Arthritis	3426	CFI
HP:0001369	Arthritis	7018	TF
HP:0001369	Arthritis	56262	LRRC8A
HP:0001369	Arthritis	6899	TBX1
HP:0002804	Arthrogryposis multiplex congenita	23522	KAT6B
HP:0002804	Arthrogryposis multiplex congenita	5119	CHMP1A
HP:0003040	Arthropathy	25939	SAMHD1
HP:0003040	Arthropathy	7128	TNFAIP3
HP:0004933	Ascending aortic dissection	2006	ELN
HP:0004933	Ascending aortic dissection	4091	SMAD6
HP:0001541	Ascites	9184	BUB3
HP:0001541	Ascites	23534	TNPO3
HP:0002835	Aspiration	3908	LAMA2
HP:0002099	Asthma	6899	TBX1
HP:0000483	Astigmatism	5130	PCYT1A
HP:0000483	Astigmatism	2189	FANCG
HP:0000483	Astigmatism	57492	ARID1B
HP:0000483	Astigmatism	57697	FANCM
HP:0000483	Astigmatism	5119	CHMP1A
HP:0002446	Astrocytosis	3908	LAMA2
HP:0100555	Asymmetric growth	10682	EBP
HP:0001670	Asymmetric septal hypertrophy	2799	GNS
HP:0001251	Ataxia	1130	LYST
HP:0001251	Ataxia	5230	PGK1
HP:0001251	Ataxia	1181	CLCN2
HP:0001251	Ataxia	4361	MRE11
HP:0001251	Ataxia	7443	VRK1
HP:0001251	Ataxia	10518	CIB2
HP:0001251	Ataxia	9526	MPDU1
HP:0001251	Ataxia	80208	SPG11
HP:0001251	Ataxia	410	ARSA
HP:0001251	Ataxia	6575	SLC20A2
HP:0001251	Ataxia	445	ASS1
HP:0001251	Ataxia	2566	GABRG2
HP:0001251	Ataxia	6687	SPG7
HP:0001251	Ataxia	4729	NDUFV2
HP:0001251	Ataxia	124590	USH1G
HP:0001251	Ataxia	8913	CACNA1G
HP:0001251	Ataxia	3798	KIF5A
HP:0001251	Ataxia	79600	TCTN1
HP:0001251	Ataxia	283489	CHAMP1
HP:0001251	Ataxia	255928	SYT14
HP:0001251	Ataxia	9150	CTDP1
HP:0001251	Ataxia	2006	ELN
HP:0100750	Atelectasis	3908	LAMA2
HP:0100750	Atelectasis	6899	TBX1
HP:0100750	Atelectasis	10516	FBLN5
HP:0002621	Atherosclerosis	7486	WRN
HP:0002621	Atherosclerosis	2006	ELN
HP:0002621	Atherosclerosis	3949	LDLR
HP:0002621	Atherosclerosis	57592	ZNF687
HP:0002305	Athetosis	3798	KIF5A
HP:0002305	Athetosis	54820	NDE1
HP:0002305	Athetosis	6575	SLC20A2
HP:0010819	Atonic seizures	2566	GABRG2
HP:0012239	Atransferrinemia	7018	TF
HP:0000413	Atresia of the external auditory canal	8318	CDC45
HP:0001692	Atrial arrhythmia	9992	KCNE2
HP:0001692	Atrial arrhythmia	781	CACNA2D1
HP:0001692	Atrial arrhythmia	1837	DTNA
HP:0001692	Atrial arrhythmia	79188	TMEM43
HP:0005110	Atrial fibrillation	9992	KCNE2
HP:0005110	Atrial fibrillation	781	CACNA2D1
HP:0005110	Atrial fibrillation	1837	DTNA
HP:0005110	Atrial fibrillation	79188	TMEM43
HP:0001631	Atrial septal defect	613	BCR
HP:0001631	Atrial septal defect	1130	LYST
HP:0001631	Atrial septal defect	8318	CDC45
HP:0001631	Atrial septal defect	10370	CITED2
HP:0001631	Atrial septal defect	2189	FANCG
HP:0001631	Atrial septal defect	9361	LONP1
HP:0001631	Atrial septal defect	57492	ARID1B
HP:0001631	Atrial septal defect	6899	TBX1
HP:0001631	Atrial septal defect	126792	B3GALT6
HP:0001631	Atrial septal defect	57167	SALL4
HP:0001631	Atrial septal defect	57697	FANCM
HP:0001631	Atrial septal defect	10084	PQBP1
HP:0001631	Atrial septal defect	10617	STAMBP
HP:0001631	Atrial septal defect	1954	MEGF8
HP:0001631	Atrial septal defect	2006	ELN
HP:0001631	Atrial septal defect	9184	BUB3
HP:0001631	Atrial septal defect	23522	KAT6B
HP:0001678	Atrioventricular block	781	CACNA2D1
HP:0006695	Atrioventricular canal defect	78987	CRELD1
HP:0006695	Atrioventricular canal defect	9361	LONP1
HP:0006695	Atrioventricular canal defect	23522	KAT6B
HP:0006695	Atrioventricular canal defect	6899	TBX1
HP:0006695	Atrioventricular canal defect	8318	CDC45
HP:0001075	Atrophic scars	126792	B3GALT6
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1130	LYST
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6305	SBF1
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7443	VRK1
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10518	CIB2
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9526	MPDU1
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80208	SPG11
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10617	STAMBP
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6687	SPG7
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5723	PSPH
HP:0007367	Atrophy/Degeneration affecting the central nervous system	124590	USH1G
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83696	TRAPPC9
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9997	SCO2
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10084	PQBP1
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9150	CTDP1
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79813	EHMT1
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2006	ELN
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6687	SPG7
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5723	PSPH
HP:0007369	Atrophy/Degeneration affecting the cerebrum	124590	USH1G
HP:0007369	Atrophy/Degeneration affecting the cerebrum	83696	TRAPPC9
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10518	CIB2
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9526	MPDU1
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80208	SPG11
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10084	PQBP1
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10617	STAMBP
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9150	CTDP1
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79813	EHMT1
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2006	ELN
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	80208	SPG11
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2006	ELN
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6687	SPG7
HP:0007018	Attention deficit hyperactivity disorder	7681	MKRN3
HP:0007018	Attention deficit hyperactivity disorder	6660	SOX5
HP:0007018	Attention deficit hyperactivity disorder	613	BCR
HP:0007018	Attention deficit hyperactivity disorder	2006	ELN
HP:0007018	Attention deficit hyperactivity disorder	6899	TBX1
HP:0007843	Attenuation of retinal blood vessels	346007	EYS
HP:0007843	Attenuation of retinal blood vessels	5148	PDE6G
HP:0007270	Atypical absence seizures	2566	GABRG2
HP:0000987	Atypical scarring of skin	5148	PDE6G
HP:0000987	Atypical scarring of skin	126792	B3GALT6
HP:0000987	Atypical scarring of skin	346007	EYS
HP:0000987	Atypical scarring of skin	6295	SAG
HP:0000987	Atypical scarring of skin	10682	EBP
HP:0000987	Atypical scarring of skin	64218	SEMA4A
HP:0011157	Auras	7957	EPM2A
HP:0000717	Autism	7681	MKRN3
HP:0000717	Autism	79813	EHMT1
HP:0000717	Autism	2006	ELN
HP:0000717	Autism	6899	TBX1
HP:0000729	Autistic behavior	7681	MKRN3
HP:0000729	Autistic behavior	6736	SRY
HP:0000729	Autistic behavior	57492	ARID1B
HP:0000729	Autistic behavior	6899	TBX1
HP:0000729	Autistic behavior	23394	ADNP
HP:0000729	Autistic behavior	79813	EHMT1
HP:0000729	Autistic behavior	2006	ELN
HP:0030057	Autoimmune antibody positivity	7128	TNFAIP3
HP:0030057	Autoimmune antibody positivity	23534	TNPO3
HP:0002960	Autoimmunity	83737	ITCH
HP:0002960	Autoimmunity	29071	C1GALT1C1
HP:0002960	Autoimmunity	7128	TNFAIP3
HP:0002960	Autoimmunity	3561	IL2RG
HP:0002960	Autoimmunity	23534	TNPO3
HP:0002960	Autoimmunity	6899	TBX1
HP:0000006	Autosomal dominant inheritance	102	ADAM10
HP:0000006	Autosomal dominant inheritance	10370	CITED2
HP:0000006	Autosomal dominant inheritance	57492	ARID1B
HP:0000006	Autosomal dominant inheritance	4261	CIITA
HP:0000006	Autosomal dominant inheritance	2254	FGF9
HP:0000006	Autosomal dominant inheritance	57592	ZNF687
HP:0000006	Autosomal dominant inheritance	26873	OPLAH
HP:0000006	Autosomal dominant inheritance	8452	CUL3
HP:0000006	Autosomal dominant inheritance	57609	DIP2B
HP:0000006	Autosomal dominant inheritance	10516	FBLN5
HP:0000006	Autosomal dominant inheritance	8516	ITGA8
HP:0000006	Autosomal dominant inheritance	22852	ANKRD26
HP:0000006	Autosomal dominant inheritance	6496	SIX3
HP:0000006	Autosomal dominant inheritance	53630	BCO1
HP:0000006	Autosomal dominant inheritance	4488	MSX2
HP:0000006	Autosomal dominant inheritance	6575	SLC20A2
HP:0000006	Autosomal dominant inheritance	4607	MYBPC3
HP:0000006	Autosomal dominant inheritance	6660	SOX5
HP:0000006	Autosomal dominant inheritance	2566	GABRG2
HP:0000006	Autosomal dominant inheritance	6687	SPG7
HP:0000006	Autosomal dominant inheritance	4646	MYO6
HP:0000006	Autosomal dominant inheritance	152137	CCDC50
HP:0000006	Autosomal dominant inheritance	27286	SRPX2
HP:0000006	Autosomal dominant inheritance	8913	CACNA1G
HP:0000006	Autosomal dominant inheritance	2778	GNAS
HP:0000006	Autosomal dominant inheritance	64218	SEMA4A
HP:0000006	Autosomal dominant inheritance	6899	TBX1
HP:0000006	Autosomal dominant inheritance	811	CALR
HP:0000006	Autosomal dominant inheritance	64321	SOX17
HP:0000006	Autosomal dominant inheritance	23394	ADNP
HP:0000006	Autosomal dominant inheritance	283489	CHAMP1
HP:0000006	Autosomal dominant inheritance	2934	GSN
HP:0000006	Autosomal dominant inheritance	56262	LRRC8A
HP:0000006	Autosomal dominant inheritance	7128	TNFAIP3
HP:0000006	Autosomal dominant inheritance	23522	KAT6B
HP:0000006	Autosomal dominant inheritance	5156	PDGFRA
HP:0000006	Autosomal dominant inheritance	7251	TSG101
HP:0000006	Autosomal dominant inheritance	1123	CHN1
HP:0000006	Autosomal dominant inheritance	78987	CRELD1
HP:0000006	Autosomal dominant inheritance	3242	HPD
HP:0000006	Autosomal dominant inheritance	3394	IRF8
HP:0000006	Autosomal dominant inheritance	25939	SAMHD1
HP:0000006	Autosomal dominant inheritance	79188	TMEM43
HP:0000006	Autosomal dominant inheritance	7546	ZIC2
HP:0000006	Autosomal dominant inheritance	5506	PPP1R3A
HP:0000006	Autosomal dominant inheritance	1414	CRYBB1
HP:0000006	Autosomal dominant inheritance	1421	CRYGD
HP:0000006	Autosomal dominant inheritance	7681	MKRN3
HP:0000006	Autosomal dominant inheritance	1548	CYP2A6
HP:0000006	Autosomal dominant inheritance	3798	KIF5A
HP:0000006	Autosomal dominant inheritance	9992	KCNE2
HP:0000006	Autosomal dominant inheritance	9997	SCO2
HP:0000006	Autosomal dominant inheritance	1837	DTNA
HP:0000006	Autosomal dominant inheritance	1861	TOR1A
HP:0000006	Autosomal dominant inheritance	57167	SALL4
HP:0000006	Autosomal dominant inheritance	79719	AAGAB
HP:0000006	Autosomal dominant inheritance	3949	LDLR
HP:0000006	Autosomal dominant inheritance	1908	EDN3
HP:0000006	Autosomal dominant inheritance	1909	EDNRA
HP:0000006	Autosomal dominant inheritance	1917	EEF1A2
HP:0000006	Autosomal dominant inheritance	6049	RNF6
HP:0000006	Autosomal dominant inheritance	4023	LPL
HP:0000006	Autosomal dominant inheritance	79813	EHMT1
HP:0000006	Autosomal dominant inheritance	2006	ELN
HP:0000006	Autosomal dominant inheritance	4091	SMAD6
HP:0000007	Autosomal recessive inheritance	8318	CDC45
HP:0000007	Autosomal recessive inheritance	57492	ARID1B
HP:0000007	Autosomal recessive inheritance	4261	CIITA
HP:0000007	Autosomal recessive inheritance	4361	MRE11
HP:0000007	Autosomal recessive inheritance	288	ANK3
HP:0000007	Autosomal recessive inheritance	8516	ITGA8
HP:0000007	Autosomal recessive inheritance	57697	FANCM
HP:0000007	Autosomal recessive inheritance	410	ARSA
HP:0000007	Autosomal recessive inheritance	445	ASS1
HP:0000007	Autosomal recessive inheritance	4594	MUT
HP:0000007	Autosomal recessive inheritance	4645	MYO5B
HP:0000007	Autosomal recessive inheritance	4646	MYO6
HP:0000007	Autosomal recessive inheritance	4729	NDUFV2
HP:0000007	Autosomal recessive inheritance	730	C7
HP:0000007	Autosomal recessive inheritance	9150	CTDP1
HP:0000007	Autosomal recessive inheritance	5119	CHMP1A
HP:0000007	Autosomal recessive inheritance	5130	PCYT1A
HP:0000007	Autosomal recessive inheritance	5148	PDE6G
HP:0000007	Autosomal recessive inheritance	9321	TRIP11
HP:0000007	Autosomal recessive inheritance	1130	LYST
HP:0000007	Autosomal recessive inheritance	9361	LONP1
HP:0000007	Autosomal recessive inheritance	1181	CLCN2
HP:0000007	Autosomal recessive inheritance	9526	MPDU1
HP:0000007	Autosomal recessive inheritance	25939	SAMHD1
HP:0000007	Autosomal recessive inheritance	30062	RAX
HP:0000007	Autosomal recessive inheritance	1414	CRYBB1
HP:0000007	Autosomal recessive inheritance	9652	TTC37
HP:0000007	Autosomal recessive inheritance	54820	NDE1
HP:0000007	Autosomal recessive inheritance	9775	EIF4A3
HP:0000007	Autosomal recessive inheritance	1605	DAG1
HP:0000007	Autosomal recessive inheritance	5723	PSPH
HP:0000007	Autosomal recessive inheritance	124590	USH1G
HP:0000007	Autosomal recessive inheritance	83696	TRAPPC9
HP:0000007	Autosomal recessive inheritance	79600	TCTN1
HP:0000007	Autosomal recessive inheritance	9997	SCO2
HP:0000007	Autosomal recessive inheritance	83737	ITCH
HP:0000007	Autosomal recessive inheritance	5932	RBBP8
HP:0000007	Autosomal recessive inheritance	1908	EDN3
HP:0000007	Autosomal recessive inheritance	55180	LINS1
HP:0000007	Autosomal recessive inheritance	346007	EYS
HP:0000007	Autosomal recessive inheritance	1954	MEGF8
HP:0000007	Autosomal recessive inheritance	51128	SAR1B
HP:0000007	Autosomal recessive inheritance	255928	SYT14
HP:0000007	Autosomal recessive inheritance	51199	NIN
HP:0000007	Autosomal recessive inheritance	10300	KATNB1
HP:0000007	Autosomal recessive inheritance	112752	IFT43
HP:0000007	Autosomal recessive inheritance	6295	SAG
HP:0000007	Autosomal recessive inheritance	6305	SBF1
HP:0000007	Autosomal recessive inheritance	84189	SLITRK6
HP:0000007	Autosomal recessive inheritance	55532	SLC30A10
HP:0000007	Autosomal recessive inheritance	26873	OPLAH
HP:0000007	Autosomal recessive inheritance	10516	FBLN5
HP:0000007	Autosomal recessive inheritance	10518	CIB2
HP:0000007	Autosomal recessive inheritance	6443	SGCB
HP:0000007	Autosomal recessive inheritance	80208	SPG11
HP:0000007	Autosomal recessive inheritance	10599	SLCO1B1
HP:0000007	Autosomal recessive inheritance	10617	STAMBP
HP:0000007	Autosomal recessive inheritance	6531	SLC6A3
HP:0000007	Autosomal recessive inheritance	80270	HSD3B7
HP:0000007	Autosomal recessive inheritance	51660	MPC1
HP:0000007	Autosomal recessive inheritance	113179	ADAT3
HP:0000007	Autosomal recessive inheritance	6687	SPG7
HP:0000007	Autosomal recessive inheritance	10841	FTCD
HP:0000007	Autosomal recessive inheritance	2683	B4GALT1
HP:0000007	Autosomal recessive inheritance	10892	MALT1
HP:0000007	Autosomal recessive inheritance	64218	SEMA4A
HP:0000007	Autosomal recessive inheritance	2799	GNS
HP:0000007	Autosomal recessive inheritance	6899	TBX1
HP:0000007	Autosomal recessive inheritance	375611	SLC26A5
HP:0000007	Autosomal recessive inheritance	7018	TF
HP:0000007	Autosomal recessive inheritance	23417	MLYCD
HP:0000007	Autosomal recessive inheritance	56246	MRAP
HP:0000007	Autosomal recessive inheritance	23522	KAT6B
HP:0000007	Autosomal recessive inheritance	60528	ELAC2
HP:0000007	Autosomal recessive inheritance	3242	HPD
HP:0000007	Autosomal recessive inheritance	3257	HPS1
HP:0000007	Autosomal recessive inheritance	7443	VRK1
HP:0000007	Autosomal recessive inheritance	7486	WRN
HP:0000007	Autosomal recessive inheritance	3394	IRF8
HP:0000007	Autosomal recessive inheritance	3426	CFI
HP:0000007	Autosomal recessive inheritance	100128927	ZBTB42
HP:0000007	Autosomal recessive inheritance	3460	IFNGR2
HP:0000007	Autosomal recessive inheritance	343637	RSPO4
HP:0000007	Autosomal recessive inheritance	56922	MCCC1
HP:0000007	Autosomal recessive inheritance	118429	ANTXR2
HP:0000007	Autosomal recessive inheritance	7957	EPM2A
HP:0000007	Autosomal recessive inheritance	3908	LAMA2
HP:0000007	Autosomal recessive inheritance	126792	B3GALT6
HP:0000007	Autosomal recessive inheritance	4023	LPL
HP:0000007	Autosomal recessive inheritance	81846	SBF2
HP:0000007	Autosomal recessive inheritance	4047	LSS
HP:0000027	Azoospermia	2189	FANCG
HP:0000027	Azoospermia	6736	SRY
HP:0000027	Azoospermia	8287	USP9Y
HP:0000027	Azoospermia	57697	FANCM
HP:0002157	Azotemia	5506	PPP1R3A
HP:0002157	Azotemia	445	ASS1
HP:0002157	Azotemia	56922	MCCC1
HP:0002157	Azotemia	4594	MUT
HP:0012191	B-cell lymphoma	10892	MALT1
HP:0003487	Babinski sign	6687	SPG7
HP:0003487	Babinski sign	80208	SPG11
HP:0003487	Babinski sign	4729	NDUFV2
HP:0003487	Babinski sign	410	ARSA
HP:0003487	Babinski sign	9150	CTDP1
HP:0003487	Babinski sign	8913	CACNA1G
HP:0003487	Babinski sign	3798	KIF5A
HP:0000585	Band keratopathy	2778	GNAS
HP:0001552	Barrel-shaped chest	9321	TRIP11
HP:0002135	Basal ganglia calcification	6575	SLC20A2
HP:0002135	Basal ganglia calcification	25939	SAMHD1
HP:0002135	Basal ganglia calcification	2778	GNAS
HP:0006999	Basal ganglia gliosis	7443	VRK1
HP:0006999	Basal ganglia gliosis	9997	SCO2
HP:0000923	Beaded ribs	9321	TRIP11
HP:0000708	Behavioral abnormality	57492	ARID1B
HP:0000708	Behavioral abnormality	6295	SAG
HP:0000708	Behavioral abnormality	10518	CIB2
HP:0000708	Behavioral abnormality	288	ANK3
HP:0000708	Behavioral abnormality	80208	SPG11
HP:0000708	Behavioral abnormality	410	ARSA
HP:0000708	Behavioral abnormality	6575	SLC20A2
HP:0000708	Behavioral abnormality	445	ASS1
HP:0000708	Behavioral abnormality	6660	SOX5
HP:0000708	Behavioral abnormality	2566	GABRG2
HP:0000708	Behavioral abnormality	6736	SRY
HP:0000708	Behavioral abnormality	613	BCR
HP:0000708	Behavioral abnormality	8913	CACNA1G
HP:0000708	Behavioral abnormality	2778	GNAS
HP:0000708	Behavioral abnormality	64218	SEMA4A
HP:0000708	Behavioral abnormality	2799	GNS
HP:0000708	Behavioral abnormality	6899	TBX1
HP:0000708	Behavioral abnormality	23394	ADNP
HP:0000708	Behavioral abnormality	23534	TNPO3
HP:0000708	Behavioral abnormality	5130	PCYT1A
HP:0000708	Behavioral abnormality	5148	PDE6G
HP:0000708	Behavioral abnormality	1130	LYST
HP:0000708	Behavioral abnormality	5230	PGK1
HP:0000708	Behavioral abnormality	25939	SAMHD1
HP:0000708	Behavioral abnormality	7681	MKRN3
HP:0000708	Behavioral abnormality	54820	NDE1
HP:0000708	Behavioral abnormality	124590	USH1G
HP:0000708	Behavioral abnormality	7957	EPM2A
HP:0000708	Behavioral abnormality	5932	RBBP8
HP:0000708	Behavioral abnormality	1861	TOR1A
HP:0000708	Behavioral abnormality	10084	PQBP1
HP:0000708	Behavioral abnormality	1917	EEF1A2
HP:0000708	Behavioral abnormality	55180	LINS1
HP:0000708	Behavioral abnormality	346007	EYS
HP:0000708	Behavioral abnormality	79813	EHMT1
HP:0000708	Behavioral abnormality	2006	ELN
HP:0100835	Benign neoplasm of the central nervous system	7486	WRN
HP:0100835	Benign neoplasm of the central nervous system	2778	GNAS
HP:0000813	Bicornuate uterus	8516	ITGA8
HP:0000813	Bicornuate uterus	2189	FANCG
HP:0000813	Bicornuate uterus	57697	FANCM
HP:0011318	Bicoronal synostosis	4488	MSX2
HP:0001647	Bicuspid aortic valve	126792	B3GALT6
HP:0001647	Bicuspid aortic valve	6736	SRY
HP:0001647	Bicuspid aortic valve	2006	ELN
HP:0001647	Bicuspid aortic valve	1909	EDNRA
HP:0001647	Bicuspid aortic valve	4091	SMAD6
HP:0000048	Bifid scrotum	6736	SRY
HP:0000193	Bifid uvula	9775	EIF4A3
HP:0000193	Bifid uvula	9652	TTC37
HP:0000193	Bifid uvula	1605	DAG1
HP:0000193	Bifid uvula	6496	SIX3
HP:0000193	Bifid uvula	23522	KAT6B
HP:0000193	Bifid uvula	6899	TBX1
HP:0000193	Bifid uvula	8318	CDC45
HP:0008689	Bilateral cryptorchidism	6736	SRY
HP:0008619	Bilateral sensorineural hearing impairment	4646	MYO6
HP:0007598	Bilateral single transverse palmar creases	57492	ARID1B
HP:0007598	Bilateral single transverse palmar creases	2254	FGF9
HP:0007598	Bilateral single transverse palmar creases	23522	KAT6B
HP:0001776	Bilateral talipes equinovarus	10682	EBP
HP:0005912	Biliary atresia	9361	LONP1
HP:0002613	Biliary cirrhosis	23534	TNPO3
HP:0001080	Biliary tract abnormality	80270	HSD3B7
HP:0001080	Biliary tract abnormality	9361	LONP1
HP:0001080	Biliary tract abnormality	4261	CIITA
HP:0001080	Biliary tract abnormality	23534	TNPO3
HP:0004422	Biparietal narrowing	79600	TCTN1
HP:0007302	Bipolar affective disorder	6899	TBX1
HP:0002862	Bladder carcinoma	79719	AAGAB
HP:0000015	Bladder diverticulum	57167	SALL4
HP:0000015	Bladder diverticulum	10516	FBLN5
HP:0000015	Bladder diverticulum	2006	ELN
HP:0009725	Bladder neoplasm	79719	AAGAB
HP:0000581	Blepharophimosis	57167	SALL4
HP:0000581	Blepharophimosis	1123	CHN1
HP:0000581	Blepharophimosis	613	BCR
HP:0000581	Blepharophimosis	57492	ARID1B
HP:0000581	Blepharophimosis	2006	ELN
HP:0000581	Blepharophimosis	23522	KAT6B
HP:0000581	Blepharophimosis	6899	TBX1
HP:0000643	Blepharospasm	1123	CHN1
HP:0000643	Blepharospasm	1861	TOR1A
HP:0000618	Blindness	5148	PDE6G
HP:0000618	Blindness	4729	NDUFV2
HP:0000618	Blindness	6295	SAG
HP:0000618	Blindness	2778	GNAS
HP:0000618	Blindness	64218	SEMA4A
HP:0000618	Blindness	10084	PQBP1
HP:0000618	Blindness	346007	EYS
HP:0025085	Bloody diarrhea	3257	HPS1
HP:0000635	Blue irides	2006	ELN
HP:0000635	Blue irides	1908	EDN3
HP:0000592	Blue sclerae	126792	B3GALT6
HP:0002653	Bone pain	2778	GNAS
HP:0002653	Bone pain	57592	ZNF687
HP:0007737	Bone spicule pigmentation of the retina	346007	EYS
HP:0003956	Bowed forearm bones	126792	B3GALT6
HP:0005222	Bowel diverticulosis	10516	FBLN5
HP:0005222	Bowel diverticulosis	2006	ELN
HP:0002607	Bowel incontinence	613	BCR
HP:0002607	Bowel incontinence	6899	TBX1
HP:0006488	Bowing of the arm	126792	B3GALT6
HP:0002979	Bowing of the legs	5130	PCYT1A
HP:0002979	Bowing of the legs	126792	B3GALT6
HP:0002979	Bowing of the legs	8318	CDC45
HP:0002979	Bowing of the legs	9361	LONP1
HP:0002979	Bowing of the legs	1954	MEGF8
HP:0002979	Bowing of the legs	2006	ELN
HP:0006487	Bowing of the long bones	5130	PCYT1A
HP:0006487	Bowing of the long bones	126792	B3GALT6
HP:0006487	Bowing of the long bones	613	BCR
HP:0006487	Bowing of the long bones	8318	CDC45
HP:0006487	Bowing of the long bones	9361	LONP1
HP:0006487	Bowing of the long bones	1954	MEGF8
HP:0006487	Bowing of the long bones	2006	ELN
HP:0000248	Brachycephaly	10084	PQBP1
HP:0000248	Brachycephaly	4488	MSX2
HP:0000248	Brachycephaly	1954	MEGF8
HP:0000248	Brachycephaly	79813	EHMT1
HP:0000248	Brachycephaly	83696	TRAPPC9
HP:0001156	Brachydactyly	5130	PCYT1A
HP:0001156	Brachydactyly	1123	CHN1
HP:0001156	Brachydactyly	112752	IFT43
HP:0001156	Brachydactyly	10370	CITED2
HP:0001156	Brachydactyly	9361	LONP1
HP:0001156	Brachydactyly	57492	ARID1B
HP:0001156	Brachydactyly	118429	ANTXR2
HP:0001156	Brachydactyly	2254	FGF9
HP:0001156	Brachydactyly	2778	GNAS
HP:0001156	Brachydactyly	5932	RBBP8
HP:0001156	Brachydactyly	10617	STAMBP
HP:0001156	Brachydactyly	4488	MSX2
HP:0001156	Brachydactyly	1954	MEGF8
HP:0001156	Brachydactyly	79813	EHMT1
HP:0001156	Brachydactyly	23522	KAT6B
HP:0000244	Brachyturricephaly	4488	MSX2
HP:0001662	Bradycardia	781	CACNA2D1
HP:0001662	Bradycardia	79188	TMEM43
HP:0002067	Bradykinesia	6531	SLC6A3
HP:0002067	Bradykinesia	1130	LYST
HP:0002067	Bradykinesia	55532	SLC30A10
HP:0002067	Bradykinesia	6575	SLC20A2
HP:0012444	Brain atrophy	6687	SPG7
HP:0012444	Brain atrophy	5723	PSPH
HP:0012444	Brain atrophy	6305	SBF1
HP:0012444	Brain atrophy	124590	USH1G
HP:0012444	Brain atrophy	83696	TRAPPC9
HP:0012444	Brain atrophy	10518	CIB2
HP:0012444	Brain atrophy	9526	MPDU1
HP:0012444	Brain atrophy	80208	SPG11
HP:0012444	Brain atrophy	10084	PQBP1
HP:0012444	Brain atrophy	10617	STAMBP
HP:0012444	Brain atrophy	9150	CTDP1
HP:0012444	Brain atrophy	79813	EHMT1
HP:0012444	Brain atrophy	2006	ELN
HP:0001322	Brain very small	6687	SPG7
HP:0001322	Brain very small	5723	PSPH
HP:0001322	Brain very small	6305	SBF1
HP:0001322	Brain very small	124590	USH1G
HP:0001322	Brain very small	83696	TRAPPC9
HP:0001322	Brain very small	10518	CIB2
HP:0001322	Brain very small	9526	MPDU1
HP:0001322	Brain very small	80208	SPG11
HP:0001322	Brain very small	10084	PQBP1
HP:0001322	Brain very small	10617	STAMBP
HP:0001322	Brain very small	9150	CTDP1
HP:0001322	Brain very small	79813	EHMT1
HP:0001322	Brain very small	2006	ELN
HP:0009794	Branchial anomaly	613	BCR
HP:0009795	Branchial fistula	613	BCR
HP:0100783	Breast aplasia	8318	CDC45
HP:0003002	Breast carcinoma	4361	MRE11
HP:0003002	Breast carcinoma	7251	TSG101
HP:0003002	Breast carcinoma	79719	AAGAB
HP:0003002	Breast carcinoma	7486	WRN
HP:0002299	Brittle hair	10084	PQBP1
HP:0002299	Brittle hair	9652	TTC37
HP:0010027	Broad 1st metacarpal	2778	GNAS
HP:0000916	Broad clavicles	9321	TRIP11
HP:0009836	Broad distal phalanx of finger	126792	B3GALT6
HP:0009836	Broad distal phalanx of finger	57492	ARID1B
HP:0009836	Broad distal phalanx of finger	2778	GNAS
HP:0009642	Broad distal phalanx of the thumb	2778	GNAS
HP:0001500	Broad finger	57492	ARID1B
HP:0001500	Broad finger	1954	MEGF8
HP:0001500	Broad finger	126792	B3GALT6
HP:0001500	Broad finger	2254	FGF9
HP:0001500	Broad finger	2778	GNAS
HP:0000337	Broad forehead	10370	CITED2
HP:0000337	Broad forehead	2006	ELN
HP:0000337	Broad forehead	6899	TBX1
HP:0010055	Broad hallux	6899	TBX1
HP:0010059	Broad hallux phalanx	57167	SALL4
HP:0005622	Broad long bones	57492	ARID1B
HP:0005622	Broad long bones	1954	MEGF8
HP:0005622	Broad long bones	126792	B3GALT6
HP:0005622	Broad long bones	2254	FGF9
HP:0005622	Broad long bones	57167	SALL4
HP:0005622	Broad long bones	2778	GNAS
HP:0001230	Broad metacarpals	2778	GNAS
HP:0001821	Broad nail	112752	IFT43
HP:0000455	Broad nasal tip	57492	ARID1B
HP:0000455	Broad nasal tip	2006	ELN
HP:0009768	Broad phalanges of the hand	57492	ARID1B
HP:0009768	Broad phalanges of the hand	1954	MEGF8
HP:0009768	Broad phalanges of the hand	126792	B3GALT6
HP:0009768	Broad phalanges of the hand	2254	FGF9
HP:0009768	Broad phalanges of the hand	2778	GNAS
HP:0006009	Broad phalanx	57492	ARID1B
HP:0006009	Broad phalanx	1954	MEGF8
HP:0006009	Broad phalanx	126792	B3GALT6
HP:0006009	Broad phalanx	2254	FGF9
HP:0006009	Broad phalanx	57167	SALL4
HP:0006009	Broad phalanx	2778	GNAS
HP:0010174	Broad phalanx of the toes	57167	SALL4
HP:0009852	Broad proximal phalanges of the hand	2778	GNAS
HP:0002682	Broad skull	9361	LONP1
HP:0011304	Broad thumb	1954	MEGF8
HP:0011304	Broad thumb	2254	FGF9
HP:0011304	Broad thumb	2778	GNAS
HP:0001837	Broad toe	6899	TBX1
HP:0002110	Bronchiectasis	56262	LRRC8A
HP:0012387	Bronchitis	3561	IL2RG
HP:0002780	Bronchomalacia	79813	EHMT1
HP:0000978	Bruising susceptibility	22852	ANKRD26
HP:0000978	Bruising susceptibility	1130	LYST
HP:0000978	Bruising susceptibility	3257	HPS1
HP:0000978	Bruising susceptibility	2006	ELN
HP:0000978	Bruising susceptibility	2778	GNAS
HP:0003763	Bruxism	288	ANK3
HP:0001283	Bulbar palsy	410	ARSA
HP:0001283	Bulbar palsy	2934	GSN
HP:0002483	Bulbar signs	80208	SPG11
HP:0000414	Bulbous nose	6660	SOX5
HP:0000414	Bulbous nose	57492	ARID1B
HP:0000414	Bulbous nose	23522	KAT6B
HP:0000414	Bulbous nose	10084	PQBP1
HP:0000414	Bulbous nose	6899	TBX1
HP:0000557	Buphthalmos	1605	DAG1
HP:0003316	Butterfly vertebrae	6660	SOX5
HP:0011450	CNS infection	1536	CYBB
HP:0011450	CNS infection	4261	CIITA
HP:0011450	CNS infection	56262	LRRC8A
HP:0011450	CNS infection	3426	CFI
HP:0011450	CNS infection	3561	IL2RG
HP:0200149	CSF lymphocytic pleiocytosis	25939	SAMHD1
HP:0012229	CSF pleocytosis	25939	SAMHD1
HP:0004326	Cachexia	5932	RBBP8
HP:0000957	Cafe-au-lait spot	2189	FANCG
HP:0000957	Cafe-au-lait spot	5932	RBBP8
HP:0000957	Cafe-au-lait spot	2778	GNAS
HP:0000957	Cafe-au-lait spot	9184	BUB3
HP:0000957	Cafe-au-lait spot	57697	FANCM
HP:0004963	Calcification of the aorta	4091	SMAD6
HP:0004963	Calcification of the aorta	3949	LDLR
HP:0002504	Calcification of the small brain vessels	6575	SLC20A2
HP:0003761	Calcinosis	2778	GNAS
HP:0004724	Calcium nephrolithiasis	26873	OPLAH
HP:0008672	Calcium oxalate nephrolithiasis	26873	OPLAH
HP:0003707	Calf muscle pseudohypertrophy	6443	SGCB
HP:0012385	Camptodactyly	1123	CHN1
HP:0012385	Camptodactyly	613	BCR
HP:0012385	Camptodactyly	8318	CDC45
HP:0012385	Camptodactyly	57492	ARID1B
HP:0012385	Camptodactyly	118429	ANTXR2
HP:0012385	Camptodactyly	83737	ITCH
HP:0012385	Camptodactyly	10084	PQBP1
HP:0012385	Camptodactyly	1954	MEGF8
HP:0012385	Camptodactyly	9150	CTDP1
HP:0012385	Camptodactyly	23522	KAT6B
HP:0100490	Camptodactyly of finger	613	BCR
HP:0100490	Camptodactyly of finger	8318	CDC45
HP:0100490	Camptodactyly of finger	57492	ARID1B
HP:0100490	Camptodactyly of finger	118429	ANTXR2
HP:0100490	Camptodactyly of finger	9150	CTDP1
HP:0100490	Camptodactyly of finger	23522	KAT6B
HP:0025104	Capillary malformation	2006	ELN
HP:0030843	Cardiac amyloidosis	2934	GSN
HP:0001695	Cardiac arrest	9992	KCNE2
HP:0001695	Cardiac arrest	781	CACNA2D1
HP:0001695	Cardiac arrest	1837	DTNA
HP:0001695	Cardiac arrest	79188	TMEM43
HP:0001695	Cardiac arrest	2006	ELN
HP:0001695	Cardiac arrest	3949	LDLR
HP:0031546	Cardiac conduction abnormality	781	CACNA2D1
HP:0005146	Cardiac valve calcification	4091	SMAD6
HP:0001640	Cardiomegaly	2006	ELN
HP:0001638	Cardiomyopathy	5156	PDGFRA
HP:0001638	Cardiomyopathy	60528	ELAC2
HP:0001638	Cardiomyopathy	4729	NDUFV2
HP:0001638	Cardiomyopathy	2189	FANCG
HP:0001638	Cardiomyopathy	3257	HPS1
HP:0001638	Cardiomyopathy	2778	GNAS
HP:0001638	Cardiomyopathy	2799	GNS
HP:0001638	Cardiomyopathy	9997	SCO2
HP:0001638	Cardiomyopathy	6443	SGCB
HP:0001638	Cardiomyopathy	1837	DTNA
HP:0001638	Cardiomyopathy	3908	LAMA2
HP:0001638	Cardiomyopathy	79188	TMEM43
HP:0001638	Cardiomyopathy	57697	FANCM
HP:0001638	Cardiomyopathy	2934	GSN
HP:0001638	Cardiomyopathy	23417	MLYCD
HP:0001638	Cardiomyopathy	2006	ELN
HP:0001638	Cardiomyopathy	4594	MUT
HP:0001638	Cardiomyopathy	4607	MYBPC3
HP:0011915	Cardiovascular calcification	3949	LDLR
HP:0011915	Cardiovascular calcification	6575	SLC20A2
HP:0011915	Cardiovascular calcification	4091	SMAD6
HP:0000670	Carious teeth	7681	MKRN3
HP:0000670	Carious teeth	2006	ELN
HP:0000670	Carious teeth	2778	GNAS
HP:0000670	Carious teeth	6899	TBX1
HP:0012163	Carotid artery dilatation	2006	ELN
HP:0001498	Carpal bone hypoplasia	57167	SALL4
HP:0009702	Carpal synostosis	126792	B3GALT6
HP:0009702	Carpal synostosis	57167	SALL4
HP:0000518	Cataract	5130	PCYT1A
HP:0000518	Cataract	5148	PDE6G
HP:0000518	Cataract	2189	FANCG
HP:0000518	Cataract	9361	LONP1
HP:0000518	Cataract	57492	ARID1B
HP:0000518	Cataract	6295	SAG
HP:0000518	Cataract	10518	CIB2
HP:0000518	Cataract	7486	WRN
HP:0000518	Cataract	57697	FANCM
HP:0000518	Cataract	1414	CRYBB1
HP:0000518	Cataract	1421	CRYGD
HP:0000518	Cataract	10682	EBP
HP:0000518	Cataract	1605	DAG1
HP:0000518	Cataract	124590	USH1G
HP:0000518	Cataract	2778	GNAS
HP:0000518	Cataract	64218	SEMA4A
HP:0000518	Cataract	6899	TBX1
HP:0000518	Cataract	57167	SALL4
HP:0000518	Cataract	10084	PQBP1
HP:0000518	Cataract	346007	EYS
HP:0000518	Cataract	9150	CTDP1
HP:0000518	Cataract	4047	LSS
HP:0000518	Cataract	2006	ELN
HP:0000518	Cataract	9184	BUB3
HP:0002608	Celiac disease	23534	TNPO3
HP:0002608	Celiac disease	2006	ELN
HP:0003653	Cellular metachromasia	2799	GNS
HP:0100658	Cellulitis	1536	CYBB
HP:0100658	Cellulitis	56262	LRRC8A
HP:0007818	Central heterochromia	1123	CHN1
HP:0011787	Central hypothyroidism	51199	NIN
HP:0007110	Central hypoventilation	1908	EDN3
HP:0030724	Central nervous system cyst	1605	DAG1
HP:0030724	Central nervous system cyst	2683	B4GALT1
HP:0030724	Central nervous system cyst	57492	ARID1B
HP:0030724	Central nervous system cyst	10682	EBP
HP:0030724	Central nervous system cyst	9184	BUB3
HP:0011493	Central opacification of the cornea	2778	GNAS
HP:0011815	Cephalocele	4488	MSX2
HP:0011815	Cephalocele	5130	PCYT1A
HP:0011815	Cephalocele	79600	TCTN1
HP:0001272	Cerebellar atrophy	6687	SPG7
HP:0001272	Cerebellar atrophy	1130	LYST
HP:0001272	Cerebellar atrophy	4729	NDUFV2
HP:0001272	Cerebellar atrophy	8913	CACNA1G
HP:0001272	Cerebellar atrophy	4361	MRE11
HP:0001272	Cerebellar atrophy	3908	LAMA2
HP:0001272	Cerebellar atrophy	255928	SYT14
HP:0007352	Cerebellar calcifications	6575	SLC20A2
HP:0002350	Cerebellar cyst	1605	DAG1
HP:0002350	Cerebellar cyst	2683	B4GALT1
HP:0002350	Cerebellar cyst	57492	ARID1B
HP:0002350	Cerebellar cyst	10682	EBP
HP:0002350	Cerebellar cyst	9184	BUB3
HP:0011695	Cerebellar hemorrhage	4594	MUT
HP:0001321	Cerebellar hypoplasia	7443	VRK1
HP:0001321	Cerebellar hypoplasia	54820	NDE1
HP:0001321	Cerebellar hypoplasia	5932	RBBP8
HP:0001321	Cerebellar hypoplasia	1605	DAG1
HP:0001321	Cerebellar hypoplasia	6496	SIX3
HP:0001321	Cerebellar hypoplasia	2006	ELN
HP:0001321	Cerebellar hypoplasia	83696	TRAPPC9
HP:0001321	Cerebellar hypoplasia	5119	CHMP1A
HP:0002438	Cerebellar malformation	5130	PCYT1A
HP:0002438	Cerebellar malformation	1605	DAG1
HP:0002438	Cerebellar malformation	2683	B4GALT1
HP:0002438	Cerebellar malformation	8318	CDC45
HP:0002438	Cerebellar malformation	57492	ARID1B
HP:0002438	Cerebellar malformation	8913	CACNA1G
HP:0002438	Cerebellar malformation	83696	TRAPPC9
HP:0002438	Cerebellar malformation	79600	TCTN1
HP:0002438	Cerebellar malformation	10682	EBP
HP:0002438	Cerebellar malformation	2006	ELN
HP:0002438	Cerebellar malformation	9184	BUB3
HP:0001320	Cerebellar vermis hypoplasia	1605	DAG1
HP:0001320	Cerebellar vermis hypoplasia	2683	B4GALT1
HP:0001320	Cerebellar vermis hypoplasia	57492	ARID1B
HP:0001320	Cerebellar vermis hypoplasia	10682	EBP
HP:0001320	Cerebellar vermis hypoplasia	9184	BUB3
HP:0001320	Cerebellar vermis hypoplasia	79600	TCTN1
HP:0007201	Cerebral artery atherosclerosis	3949	LDLR
HP:0002059	Cerebral atrophy	6687	SPG7
HP:0002059	Cerebral atrophy	5723	PSPH
HP:0002059	Cerebral atrophy	124590	USH1G
HP:0002059	Cerebral atrophy	83696	TRAPPC9
HP:0002059	Cerebral atrophy	10518	CIB2
HP:0002059	Cerebral atrophy	9526	MPDU1
HP:0002059	Cerebral atrophy	80208	SPG11
HP:0002059	Cerebral atrophy	10084	PQBP1
HP:0002059	Cerebral atrophy	10617	STAMBP
HP:0002059	Cerebral atrophy	9150	CTDP1
HP:0002059	Cerebral atrophy	79813	EHMT1
HP:0002059	Cerebral atrophy	2006	ELN
HP:0002514	Cerebral calcification	1605	DAG1
HP:0002514	Cerebral calcification	25939	SAMHD1
HP:0002514	Cerebral calcification	6575	SLC20A2
HP:0002514	Cerebral calcification	2778	GNAS
HP:0002120	Cerebral cortical atrophy	10518	CIB2
HP:0002120	Cerebral cortical atrophy	6687	SPG7
HP:0002120	Cerebral cortical atrophy	80208	SPG11
HP:0002120	Cerebral cortical atrophy	124590	USH1G
HP:0002120	Cerebral cortical atrophy	9150	CTDP1
HP:0002120	Cerebral cortical atrophy	79813	EHMT1
HP:0002120	Cerebral cortical atrophy	2006	ELN
HP:0002120	Cerebral cortical atrophy	83696	TRAPPC9
HP:0100308	Cerebral cortical hemiatrophy	79813	EHMT1
HP:0002181	Cerebral edema	3908	LAMA2
HP:0002181	Cerebral edema	4729	NDUFV2
HP:0002181	Cerebral edema	445	ASS1
HP:0002637	Cerebral ischemia	811	CALR
HP:0002637	Cerebral ischemia	2006	ELN
HP:0030079	Cervix cancer	6736	SRY
HP:0100749	Chest pain	6049	RNF6
HP:0100749	Chest pain	811	CALR
HP:0100749	Chest pain	79188	TMEM43
HP:0100749	Chest pain	2006	ELN
HP:0100749	Chest pain	2778	GNAS
HP:0005216	Chewing difficulties	3908	LAMA2
HP:0009710	Chilblain lesions	25939	SAMHD1
HP:0011463	Childhood onset	80208	SPG11
HP:0000453	Choanal atresia	2189	FANCG
HP:0000453	Choanal atresia	57492	ARID1B
HP:0000453	Choanal atresia	57167	SALL4
HP:0000453	Choanal atresia	57697	FANCM
HP:0000453	Choanal atresia	613	BCR
HP:0000453	Choanal atresia	6899	TBX1
HP:0000453	Choanal atresia	8318	CDC45
HP:0000452	Choanal stenosis	57167	SALL4
HP:0001082	Cholecystitis	410	ARSA
HP:0001081	Cholelithiasis	2006	ELN
HP:0001081	Cholelithiasis	6899	TBX1
HP:0001396	Cholestasis	10599	SLCO1B1
HP:0001396	Cholestasis	1130	LYST
HP:0001396	Cholestasis	80270	HSD3B7
HP:0001396	Cholestasis	9652	TTC37
HP:0001396	Cholestasis	4023	LPL
HP:0001396	Cholestasis	23534	TNPO3
HP:0002611	Cholestatic liver disease	80270	HSD3B7
HP:0000934	Chondrocalcinosis	7486	WRN
HP:0000041	Chordee	6736	SRY
HP:0002072	Chorea	6531	SLC6A3
HP:0002072	Chorea	4361	MRE11
HP:0002072	Chorea	410	ARSA
HP:0002072	Chorea	6575	SLC20A2
HP:0002072	Chorea	9150	CTDP1
HP:0002072	Chorea	3798	KIF5A
HP:0002072	Chorea	2778	GNAS
HP:0002072	Chorea	4594	MUT
HP:0002072	Chorea	5119	CHMP1A
HP:0001266	Choreoathetosis	2778	GNAS
HP:0001266	Choreoathetosis	4594	MUT
HP:0000533	Chorioretinal atrophy	6295	SAG
HP:0000567	Chorioretinal coloboma	57167	SALL4
HP:0000567	Chorioretinal coloboma	1123	CHN1
HP:0200065	Chorioretinal degeneration	6295	SAG
HP:0007731	Chorioretinal dysplasia	1605	DAG1
HP:0006960	Choroid plexus calcification	2778	GNAS
HP:0011506	Choroidal neovascularization	10516	FBLN5
HP:0012450	Chronic constipation	2006	ELN
HP:0012450	Chronic constipation	23417	MLYCD
HP:0002028	Chronic diarrhea	83737	ITCH
HP:0002028	Chronic diarrhea	118429	ANTXR2
HP:0002028	Chronic diarrhea	3561	IL2RG
HP:0012622	Chronic kidney disease	7225	TRPC6
HP:0012622	Chronic kidney disease	112752	IFT43
HP:0012622	Chronic kidney disease	4594	MUT
HP:0005558	Chronic leukemia	613	BCR
HP:0007041	Chronic lymphocytic meningitis	4261	CIITA
HP:0002728	Chronic mucocutaneous candidiasis	4261	CIITA
HP:0002728	Chronic mucocutaneous candidiasis	3561	IL2RG
HP:0005506	Chronic myelogenous leukemia	613	BCR
HP:0006510	Chronic obstructive pulmonary disease	1536	CYBB
HP:0006510	Chronic obstructive pulmonary disease	6899	TBX1
HP:0009098	Chronic oral candidiasis	3561	IL2RG
HP:0000389	Chronic otitis media	56262	LRRC8A
HP:0000389	Chronic otitis media	2006	ELN
HP:0000389	Chronic otitis media	6899	TBX1
HP:0001394	Cirrhosis	112752	IFT43
HP:0001394	Cirrhosis	5506	PPP1R3A
HP:0001394	Cirrhosis	80270	HSD3B7
HP:0001394	Cirrhosis	9652	TTC37
HP:0001394	Cirrhosis	445	ASS1
HP:0001394	Cirrhosis	55532	SLC30A10
HP:0001394	Cirrhosis	23534	TNPO3
HP:0410005	Cleft hard palate	9775	EIF4A3
HP:0410030	Cleft lip	8516	ITGA8
HP:0410030	Cleft lip	6496	SIX3
HP:0410030	Cleft lip	4488	MSX2
HP:0410030	Cleft lip	7341	SUMO1
HP:0410030	Cleft lip	83696	TRAPPC9
HP:0009094	Cleft lower alveolar ridge	9775	EIF4A3
HP:0010752	Cleft mandible	9775	EIF4A3
HP:0010289	Cleft of alveolar ridge of maxilla	9775	EIF4A3
HP:0000175	Cleft palate	1123	CHN1
HP:0000175	Cleft palate	8318	CDC45
HP:0000175	Cleft palate	2189	FANCG
HP:0000175	Cleft palate	57492	ARID1B
HP:0000175	Cleft palate	7341	SUMO1
HP:0000175	Cleft palate	8516	ITGA8
HP:0000175	Cleft palate	6496	SIX3
HP:0000175	Cleft palate	57697	FANCM
HP:0000175	Cleft palate	10617	STAMBP
HP:0000175	Cleft palate	4488	MSX2
HP:0000175	Cleft palate	9775	EIF4A3
HP:0000175	Cleft palate	1605	DAG1
HP:0000175	Cleft palate	613	BCR
HP:0000175	Cleft palate	6899	TBX1
HP:0000175	Cleft palate	126792	B3GALT6
HP:0000175	Cleft palate	10084	PQBP1
HP:0000175	Cleft palate	1909	EDNRA
HP:0000175	Cleft palate	9184	BUB3
HP:0000175	Cleft palate	23522	KAT6B
HP:0410004	Cleft secondary palate	4488	MSX2
HP:0410004	Cleft secondary palate	9775	EIF4A3
HP:0000185	Cleft soft palate	4488	MSX2
HP:0000204	Cleft upper lip	8516	ITGA8
HP:0000204	Cleft upper lip	6496	SIX3
HP:0000204	Cleft upper lip	4488	MSX2
HP:0000204	Cleft upper lip	7341	SUMO1
HP:0000204	Cleft upper lip	83696	TRAPPC9
HP:0030084	Clinodactyly	7681	MKRN3
HP:0030084	Clinodactyly	6660	SOX5
HP:0030084	Clinodactyly	9775	EIF4A3
HP:0030084	Clinodactyly	613	BCR
HP:0030084	Clinodactyly	112752	IFT43
HP:0030084	Clinodactyly	8318	CDC45
HP:0030084	Clinodactyly	10370	CITED2
HP:0030084	Clinodactyly	2189	FANCG
HP:0030084	Clinodactyly	57492	ARID1B
HP:0030084	Clinodactyly	83696	TRAPPC9
HP:0030084	Clinodactyly	6899	TBX1
HP:0030084	Clinodactyly	83737	ITCH
HP:0030084	Clinodactyly	5932	RBBP8
HP:0030084	Clinodactyly	57697	FANCM
HP:0030084	Clinodactyly	10084	PQBP1
HP:0030084	Clinodactyly	10617	STAMBP
HP:0030084	Clinodactyly	6049	RNF6
HP:0030084	Clinodactyly	10682	EBP
HP:0030084	Clinodactyly	2006	ELN
HP:0030084	Clinodactyly	9184	BUB3
HP:0030084	Clinodactyly	23522	KAT6B
HP:0004209	Clinodactyly of the 5th finger	9775	EIF4A3
HP:0004209	Clinodactyly of the 5th finger	613	BCR
HP:0004209	Clinodactyly of the 5th finger	112752	IFT43
HP:0004209	Clinodactyly of the 5th finger	8318	CDC45
HP:0004209	Clinodactyly of the 5th finger	10370	CITED2
HP:0004209	Clinodactyly of the 5th finger	2189	FANCG
HP:0004209	Clinodactyly of the 5th finger	57492	ARID1B
HP:0004209	Clinodactyly of the 5th finger	83696	TRAPPC9
HP:0004209	Clinodactyly of the 5th finger	6899	TBX1
HP:0004209	Clinodactyly of the 5th finger	5932	RBBP8
HP:0004209	Clinodactyly of the 5th finger	57697	FANCM
HP:0004209	Clinodactyly of the 5th finger	10084	PQBP1
HP:0004209	Clinodactyly of the 5th finger	10682	EBP
HP:0004209	Clinodactyly of the 5th finger	2006	ELN
HP:0004209	Clinodactyly of the 5th finger	9184	BUB3
HP:0004209	Clinodactyly of the 5th finger	23522	KAT6B
HP:0001864	Clinodactyly of the 5th toe	6049	RNF6
HP:0008665	Clitoral hypertrophy	6736	SRY
HP:0008665	Clitoral hypertrophy	23522	KAT6B
HP:0008665	Clitoral hypertrophy	8318	CDC45
HP:0000060	Clitoral hypoplasia	7681	MKRN3
HP:0000060	Clitoral hypoplasia	8318	CDC45
HP:0002169	Clonus	80208	SPG11
HP:0002169	Clonus	3798	KIF5A
HP:0002676	Cloverleaf skull	1954	MEGF8
HP:0001217	Clubbing	2189	FANCG
HP:0001217	Clubbing	57492	ARID1B
HP:0001217	Clubbing	57697	FANCM
HP:0001217	Clubbing	8318	CDC45
HP:0100760	Clubbing of toes	2189	FANCG
HP:0100760	Clubbing of toes	57492	ARID1B
HP:0100760	Clubbing of toes	57697	FANCM
HP:0001680	Coarctation of aorta	79813	EHMT1
HP:0001680	Coarctation of aorta	6736	SRY
HP:0001680	Coarctation of aorta	9184	BUB3
HP:0001680	Coarctation of aorta	6899	TBX1
HP:0001680	Coarctation of aorta	4091	SMAD6
HP:0000280	Coarse facial features	57492	ARID1B
HP:0000280	Coarse facial features	118429	ANTXR2
HP:0000280	Coarse facial features	79813	EHMT1
HP:0000280	Coarse facial features	2006	ELN
HP:0000280	Coarse facial features	2778	GNAS
HP:0000280	Coarse facial features	23522	KAT6B
HP:0000280	Coarse facial features	2799	GNS
HP:0002208	Coarse hair	23522	KAT6B
HP:0002208	Coarse hair	2799	GNS
HP:0100543	Cognitive impairment	10300	KATNB1
HP:0100543	Cognitive impairment	9526	MPDU1
HP:0100543	Cognitive impairment	80208	SPG11
HP:0100543	Cognitive impairment	410	ARSA
HP:0100543	Cognitive impairment	6575	SLC20A2
HP:0100543	Cognitive impairment	9652	TTC37
HP:0100543	Cognitive impairment	6687	SPG7
HP:0100543	Cognitive impairment	8913	CACNA1G
HP:0100543	Cognitive impairment	2778	GNAS
HP:0100543	Cognitive impairment	7957	EPM2A
HP:0100543	Cognitive impairment	5932	RBBP8
HP:0100543	Cognitive impairment	3908	LAMA2
HP:0100543	Cognitive impairment	1908	EDN3
HP:0100543	Cognitive impairment	9150	CTDP1
HP:0002583	Colitis	4261	CIITA
HP:0002583	Colitis	7128	TNFAIP3
HP:0002583	Colitis	26873	OPLAH
HP:0000589	Coloboma	1605	DAG1
HP:0000589	Coloboma	57167	SALL4
HP:0000589	Coloboma	1123	CHN1
HP:0000589	Coloboma	10084	PQBP1
HP:0000589	Coloboma	1414	CRYBB1
HP:0000589	Coloboma	1421	CRYGD
HP:0000589	Coloboma	79600	TCTN1
HP:0003003	Colon cancer	9184	BUB3
HP:0003003	Colon cancer	79719	AAGAB
HP:0002253	Colonic diverticula	2006	ELN
HP:0030048	Colpocephaly	23522	KAT6B
HP:0001259	Coma	445	ASS1
HP:0001259	Coma	56922	MCCC1
HP:0001259	Coma	4594	MUT
HP:0001259	Coma	4729	NDUFV2
HP:0005387	Combined immunodeficiency	3561	IL2RG
HP:0004431	Complement deficiency	3426	CFI
HP:0004431	Complement deficiency	730	C7
HP:0001674	Complete atrioventricular canal defect	6899	TBX1
HP:0001674	Complete atrioventricular canal defect	8318	CDC45
HP:0011120	Concave nasal ridge	10682	EBP
HP:0000405	Conductive hearing impairment	5148	PDE6G
HP:0000405	Conductive hearing impairment	6295	SAG
HP:0000405	Conductive hearing impairment	2254	FGF9
HP:0000405	Conductive hearing impairment	64218	SEMA4A
HP:0000405	Conductive hearing impairment	84189	SLITRK6
HP:0000405	Conductive hearing impairment	6899	TBX1
HP:0000405	Conductive hearing impairment	57167	SALL4
HP:0000405	Conductive hearing impairment	1909	EDNRA
HP:0000405	Conductive hearing impairment	346007	EYS
HP:0030637	Cone dysfunction syndrome	5130	PCYT1A
HP:0030637	Cone dysfunction syndrome	64218	SEMA4A
HP:0010579	Cone-shaped epiphysis	5932	RBBP8
HP:0010579	Cone-shaped epiphysis	2254	FGF9
HP:0000548	Cone/cone-rod dystrophy	5130	PCYT1A
HP:0000548	Cone/cone-rod dystrophy	64218	SEMA4A
HP:0001289	Confusion	2778	GNAS
HP:0011361	Congenital abnormal hair pattern	7681	MKRN3
HP:0011361	Congenital abnormal hair pattern	7486	WRN
HP:0011361	Congenital abnormal hair pattern	6736	SRY
HP:0011361	Congenital abnormal hair pattern	1123	CHN1
HP:0011361	Congenital abnormal hair pattern	10617	STAMBP
HP:0011361	Congenital abnormal hair pattern	23522	KAT6B
HP:0000519	Congenital cataract	1414	CRYBB1
HP:0000519	Congenital cataract	1421	CRYGD
HP:0000519	Congenital cataract	9361	LONP1
HP:0000519	Congenital cataract	9150	CTDP1
HP:0000519	Congenital cataract	4047	LSS
HP:0002803	Congenital contracture	7443	VRK1
HP:0002803	Congenital contracture	100128927	ZBTB42
HP:0002803	Congenital contracture	23522	KAT6B
HP:0002803	Congenital contracture	5119	CHMP1A
HP:0000776	Congenital diaphragmatic hernia	57492	ARID1B
HP:0000776	Congenital diaphragmatic hernia	10516	FBLN5
HP:0001087	Congenital glaucoma	1605	DAG1
HP:0001087	Congenital glaucoma	6736	SRY
HP:0001374	Congenital hip dislocation	9361	LONP1
HP:0001374	Congenital hip dislocation	23522	KAT6B
HP:0000851	Congenital hypothyroidism	83696	TRAPPC9
HP:0007431	Congenital ichthyosiform erythroderma	10682	EBP
HP:0011603	Congenital malformation of the great arteries	613	BCR
HP:0011603	Congenital malformation of the great arteries	10370	CITED2
HP:0011603	Congenital malformation of the great arteries	2189	FANCG
HP:0011603	Congenital malformation of the great arteries	57492	ARID1B
HP:0011603	Congenital malformation of the great arteries	6899	TBX1
HP:0011603	Congenital malformation of the great arteries	1837	DTNA
HP:0011603	Congenital malformation of the great arteries	57167	SALL4
HP:0011603	Congenital malformation of the great arteries	57697	FANCM
HP:0011603	Congenital malformation of the great arteries	10084	PQBP1
HP:0011603	Congenital malformation of the great arteries	1954	MEGF8
HP:0011603	Congenital malformation of the great arteries	9652	TTC37
HP:0011603	Congenital malformation of the great arteries	79813	EHMT1
HP:0011603	Congenital malformation of the great arteries	2006	ELN
HP:0011603	Congenital malformation of the great arteries	23522	KAT6B
HP:0045017	Congenital malformation of the left heart	1837	DTNA
HP:0045017	Congenital malformation of the left heart	6899	TBX1
HP:0045017	Congenital malformation of the left heart	4091	SMAD6
HP:0011723	Congenital malformation of the right heart	6899	TBX1
HP:0011451	Congenital microcephaly	5932	RBBP8
HP:0003741	Congenital muscular dystrophy	3908	LAMA2
HP:0008012	Congenital myopia	126792	B3GALT6
HP:0003577	Congenital onset	54820	NDE1
HP:0003577	Congenital onset	3798	KIF5A
HP:0003577	Congenital onset	9997	SCO2
HP:0003577	Congenital onset	7443	VRK1
HP:0003577	Congenital onset	10518	CIB2
HP:0003577	Congenital onset	9526	MPDU1
HP:0003577	Congenital onset	8516	ITGA8
HP:0003577	Congenital onset	3908	LAMA2
HP:0003577	Congenital onset	283489	CHAMP1
HP:0003577	Congenital onset	10617	STAMBP
HP:0003577	Congenital onset	10682	EBP
HP:0003577	Congenital onset	51660	MPC1
HP:0003577	Congenital onset	5119	CHMP1A
HP:0007642	Congenital stationary night blindness	4646	MYO6
HP:0007642	Congenital stationary night blindness	83696	TRAPPC9
HP:0007642	Congenital stationary night blindness	6295	SAG
HP:0000487	Congenital strabismus	57167	SALL4
HP:0001635	Congestive heart failure	10516	FBLN5
HP:0001635	Congestive heart failure	1837	DTNA
HP:0001635	Congestive heart failure	7486	WRN
HP:0001635	Congestive heart failure	79188	TMEM43
HP:0001635	Congestive heart failure	7018	TF
HP:0001635	Congestive heart failure	60528	ELAC2
HP:0001635	Congestive heart failure	2006	ELN
HP:0002908	Conjugated hyperbilirubinemia	10599	SLCO1B1
HP:0002908	Conjugated hyperbilirubinemia	23534	TNPO3
HP:0000509	Conjunctivitis	56262	LRRC8A
HP:0000509	Conjunctivitis	2778	GNAS
HP:0001710	Conotruncal defect	57167	SALL4
HP:0001710	Conotruncal defect	57697	FANCM
HP:0001710	Conotruncal defect	10084	PQBP1
HP:0001710	Conotruncal defect	10370	CITED2
HP:0001710	Conotruncal defect	2189	FANCG
HP:0001710	Conotruncal defect	57492	ARID1B
HP:0001710	Conotruncal defect	9652	TTC37
HP:0001710	Conotruncal defect	79813	EHMT1
HP:0001710	Conotruncal defect	2006	ELN
HP:0001710	Conotruncal defect	6899	TBX1
HP:0002019	Constipation	5156	PDGFRA
HP:0002019	Constipation	10892	MALT1
HP:0002019	Constipation	6899	TBX1
HP:0002019	Constipation	6496	SIX3
HP:0002019	Constipation	1908	EDN3
HP:0002019	Constipation	23417	MLYCD
HP:0002019	Constipation	6531	SLC6A3
HP:0002019	Constipation	2006	ELN
HP:0025142	Constitutional symptom	5156	PDGFRA
HP:0025142	Constitutional symptom	6305	SBF1
HP:0025142	Constitutional symptom	3257	HPS1
HP:0025142	Constitutional symptom	57592	ZNF687
HP:0025142	Constitutional symptom	26873	OPLAH
HP:0025142	Constitutional symptom	80208	SPG11
HP:0025142	Constitutional symptom	79188	TMEM43
HP:0025142	Constitutional symptom	10599	SLCO1B1
HP:0025142	Constitutional symptom	410	ARSA
HP:0025142	Constitutional symptom	6575	SLC20A2
HP:0025142	Constitutional symptom	4594	MUT
HP:0025142	Constitutional symptom	6687	SPG7
HP:0025142	Constitutional symptom	613	BCR
HP:0025142	Constitutional symptom	10892	MALT1
HP:0025142	Constitutional symptom	8913	CACNA1G
HP:0025142	Constitutional symptom	3798	KIF5A
HP:0025142	Constitutional symptom	2778	GNAS
HP:0025142	Constitutional symptom	6899	TBX1
HP:0025142	Constitutional symptom	811	CALR
HP:0025142	Constitutional symptom	3949	LDLR
HP:0025142	Constitutional symptom	1908	EDN3
HP:0025142	Constitutional symptom	23417	MLYCD
HP:0025142	Constitutional symptom	6049	RNF6
HP:0025142	Constitutional symptom	4023	LPL
HP:0025142	Constitutional symptom	56262	LRRC8A
HP:0025142	Constitutional symptom	2006	ELN
HP:0025142	Constitutional symptom	23534	TNPO3
HP:0001133	Constriction of peripheral visual field	5130	PCYT1A
HP:0001133	Constriction of peripheral visual field	346007	EYS
HP:0001133	Constriction of peripheral visual field	5148	PDE6G
HP:0001133	Constriction of peripheral visual field	64218	SEMA4A
HP:0012185	Constrictive median neuropathy	2778	GNAS
HP:0005750	Contractures of the joints of the lower limbs	1605	DAG1
HP:0005750	Contractures of the joints of the lower limbs	80208	SPG11
HP:0005750	Contractures of the joints of the lower limbs	23522	KAT6B
HP:0100360	Contractures of the joints of the upper limbs	613	BCR
HP:0100360	Contractures of the joints of the upper limbs	8318	CDC45
HP:0100360	Contractures of the joints of the upper limbs	57492	ARID1B
HP:0100360	Contractures of the joints of the upper limbs	118429	ANTXR2
HP:0100360	Contractures of the joints of the upper limbs	10084	PQBP1
HP:0100360	Contractures of the joints of the upper limbs	9150	CTDP1
HP:0100360	Contractures of the joints of the upper limbs	23522	KAT6B
HP:0000444	Convex nasal ridge	5932	RBBP8
HP:0000444	Convex nasal ridge	7486	WRN
HP:0001084	Corneal arcus	3949	LDLR
HP:0001131	Corneal dystrophy	1414	CRYBB1
HP:0001131	Corneal dystrophy	1421	CRYGD
HP:0001131	Corneal dystrophy	2934	GSN
HP:0011496	Corneal neovascularization	6899	TBX1
HP:0007957	Corneal opacity	1605	DAG1
HP:0007957	Corneal opacity	2778	GNAS
HP:0007957	Corneal opacity	6899	TBX1
HP:0007957	Corneal opacity	3949	LDLR
HP:0007957	Corneal opacity	30062	RAX
HP:0007957	Corneal opacity	1414	CRYBB1
HP:0007957	Corneal opacity	1421	CRYGD
HP:0007957	Corneal opacity	6575	SLC20A2
HP:0007957	Corneal opacity	2006	ELN
HP:0007957	Corneal opacity	9184	BUB3
HP:0003417	Coronal cleft vertebrae	9361	LONP1
HP:0004440	Coronal craniosynostosis	4488	MSX2
HP:0030882	Coronary artery aneurysm	3949	LDLR
HP:0001677	Coronary artery atherosclerosis	2006	ELN
HP:0001677	Coronary artery atherosclerosis	3949	LDLR
HP:0001677	Coronary artery atherosclerosis	57592	ZNF687
HP:0005145	Coronary artery stenosis	2006	ELN
HP:0009879	Cortical gyral simplification	54820	NDE1
HP:0009879	Cortical gyral simplification	10300	KATNB1
HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	2778	GNAS
HP:0100704	Cortical visual impairment	3798	KIF5A
HP:0100704	Cortical visual impairment	5119	CHMP1A
HP:0012735	Cough	6049	RNF6
HP:0012735	Cough	56262	LRRC8A
HP:0002673	Coxa valga	57492	ARID1B
HP:0002673	Coxa valga	126792	B3GALT6
HP:0002673	Coxa valga	613	BCR
HP:0002812	Coxa vara	5130	PCYT1A
HP:0002812	Coxa vara	1954	MEGF8
HP:0004437	Cranial hyperostosis	2778	GNAS
HP:0006824	Cranial nerve paralysis	1130	LYST
HP:0006824	Cranial nerve paralysis	2189	FANCG
HP:0006824	Cranial nerve paralysis	3908	LAMA2
HP:0006824	Cranial nerve paralysis	57167	SALL4
HP:0006824	Cranial nerve paralysis	57697	FANCM
HP:0004439	Craniofacial dysostosis	1909	EDNRA
HP:0012179	Craniofacial dystonia	1861	TOR1A
HP:0012179	Craniofacial dystonia	1123	CHN1
HP:0004493	Craniofacial hyperostosis	2778	GNAS
HP:0001363	Craniosynostosis	5932	RBBP8
HP:0001363	Craniosynostosis	112752	IFT43
HP:0001363	Craniosynostosis	8318	CDC45
HP:0001363	Craniosynostosis	4488	MSX2
HP:0001363	Craniosynostosis	1954	MEGF8
HP:0001363	Craniosynostosis	6899	TBX1
HP:0004736	Crossed fused renal ectopia	57167	SALL4
HP:0009901	Crumpled ear	9361	LONP1
HP:0000028	Cryptorchidism	8287	USP9Y
HP:0000028	Cryptorchidism	8318	CDC45
HP:0000028	Cryptorchidism	10370	CITED2
HP:0000028	Cryptorchidism	2189	FANCG
HP:0000028	Cryptorchidism	9361	LONP1
HP:0000028	Cryptorchidism	57492	ARID1B
HP:0000028	Cryptorchidism	57697	FANCM
HP:0000028	Cryptorchidism	10682	EBP
HP:0000028	Cryptorchidism	7681	MKRN3
HP:0000028	Cryptorchidism	1605	DAG1
HP:0000028	Cryptorchidism	6736	SRY
HP:0000028	Cryptorchidism	6899	TBX1
HP:0000028	Cryptorchidism	126792	B3GALT6
HP:0000028	Cryptorchidism	1954	MEGF8
HP:0000028	Cryptorchidism	79813	EHMT1
HP:0000028	Cryptorchidism	2006	ELN
HP:0000028	Cryptorchidism	23522	KAT6B
HP:0002967	Cubitus valgus	2254	FGF9
HP:0002967	Cubitus valgus	6736	SRY
HP:0000378	Cupped ear	10084	PQBP1
HP:0000378	Cupped ear	1909	EDNRA
HP:0000887	Cupped ribs	126792	B3GALT6
HP:0000887	Cupped ribs	5130	PCYT1A
HP:0007665	Curly eyelashes	57492	ARID1B
HP:0002212	Curly hair	9652	TTC37
HP:0031292	Cutaneous abscess	1130	LYST
HP:0002965	Cutaneous anergy	4261	CIITA
HP:0025245	Cutaneous cyst	4488	MSX2
HP:0010554	Cutaneous finger syndactyly	1954	MEGF8
HP:0012056	Cutaneous melanoma	7486	WRN
HP:0000992	Cutaneous photosensitivity	1536	CYBB
HP:0000992	Cutaneous photosensitivity	7681	MKRN3
HP:0000992	Cutaneous photosensitivity	2566	GABRG2
HP:0000992	Cutaneous photosensitivity	7957	EPM2A
HP:0000992	Cutaneous photosensitivity	25939	SAMHD1
HP:0012725	Cutaneous syndactyly	1954	MEGF8
HP:0000973	Cutis laxa	10516	FBLN5
HP:0000973	Cutis laxa	1954	MEGF8
HP:0000973	Cutis laxa	126792	B3GALT6
HP:0000973	Cutis laxa	2006	ELN
HP:0000973	Cutis laxa	112752	IFT43
HP:0000973	Cutis laxa	2934	GSN
HP:0000965	Cutis marmorata	57492	ARID1B
HP:0000965	Cutis marmorata	2006	ELN
HP:0000961	Cyanosis	811	CALR
HP:0009914	Cyclopia	6496	SIX3
HP:0000476	Cystic hygroma	23522	KAT6B
HP:0000476	Cystic hygroma	9321	TRIP11
HP:0012180	Cystic medial necrosis	2006	ELN
HP:0200146	Cystic medial necrosis of the aorta	2006	ELN
HP:0011505	Cystoid macular edema	5148	PDE6G
HP:0001305	Dandy-Walker malformation	1605	DAG1
HP:0001305	Dandy-Walker malformation	2683	B4GALT1
HP:0001305	Dandy-Walker malformation	57492	ARID1B
HP:0001305	Dandy-Walker malformation	10682	EBP
HP:0001305	Dandy-Walker malformation	9184	BUB3
HP:0100613	Death in early adulthood	2006	ELN
HP:0001522	Death in infancy	9997	SCO2
HP:0001522	Death in infancy	4645	MYO5B
HP:0001522	Death in infancy	10084	PQBP1
HP:0001522	Death in infancy	118429	ANTXR2
HP:0005403	Decrease in T cell count	3561	IL2RG
HP:0003206	Decreased activity of NADPH oxidase	1536	CYBB
HP:0040063	Decreased adipose tissue	5506	PPP1R3A
HP:0004313	Decreased antibody level in blood	4261	CIITA
HP:0004313	Decreased antibody level in blood	56262	LRRC8A
HP:0004313	Decreased antibody level in blood	3561	IL2RG
HP:0004325	Decreased body weight	8318	CDC45
HP:0004325	Decreased body weight	2189	FANCG
HP:0004325	Decreased body weight	57492	ARID1B
HP:0004325	Decreased body weight	4261	CIITA
HP:0004325	Decreased body weight	57697	FANCM
HP:0004325	Decreased body weight	10617	STAMBP
HP:0004325	Decreased body weight	80270	HSD3B7
HP:0004325	Decreased body weight	10682	EBP
HP:0004325	Decreased body weight	445	ASS1
HP:0004325	Decreased body weight	4594	MUT
HP:0004325	Decreased body weight	113179	ADAT3
HP:0004325	Decreased body weight	4729	NDUFV2
HP:0004325	Decreased body weight	10892	MALT1
HP:0004325	Decreased body weight	2778	GNAS
HP:0004325	Decreased body weight	6899	TBX1
HP:0004325	Decreased body weight	56262	LRRC8A
HP:0004325	Decreased body weight	23522	KAT6B
HP:0004325	Decreased body weight	60528	ELAC2
HP:0004325	Decreased body weight	3242	HPD
HP:0004325	Decreased body weight	9526	MPDU1
HP:0004325	Decreased body weight	7486	WRN
HP:0004325	Decreased body weight	3394	IRF8
HP:0004325	Decreased body weight	9652	TTC37
HP:0004325	Decreased body weight	3561	IL2RG
HP:0004325	Decreased body weight	7681	MKRN3
HP:0004325	Decreased body weight	56922	MCCC1
HP:0004325	Decreased body weight	118429	ANTXR2
HP:0004325	Decreased body weight	5932	RBBP8
HP:0004325	Decreased body weight	3908	LAMA2
HP:0004325	Decreased body weight	126792	B3GALT6
HP:0004325	Decreased body weight	1908	EDN3
HP:0004325	Decreased body weight	51128	SAR1B
HP:0004325	Decreased body weight	79813	EHMT1
HP:0004325	Decreased body weight	2006	ELN
HP:0002920	Decreased circulating ACTH level	2778	GNAS
HP:0030349	Decreased circulating androgen level	6736	SRY
HP:0008163	Decreased circulating cortisol level	56246	MRAP
HP:0003233	Decreased circulating high-density lipoprotein levels	5506	PPP1R3A
HP:0003563	Decreased circulating low-density lipoprotein levels	51128	SAR1B
HP:0100689	Decreased corneal thickness	5130	PCYT1A
HP:0100689	Decreased corneal thickness	5148	PDE6G
HP:0100689	Decreased corneal thickness	346007	EYS
HP:0100689	Decreased corneal thickness	6295	SAG
HP:0100689	Decreased corneal thickness	64218	SEMA4A
HP:0004673	Decreased facial expression	6575	SLC20A2
HP:0004673	Decreased facial expression	3908	LAMA2
HP:0000144	Decreased fertility	7681	MKRN3
HP:0000144	Decreased fertility	7486	WRN
HP:0000144	Decreased fertility	6736	SRY
HP:0000144	Decreased fertility	8287	USP9Y
HP:0000144	Decreased fertility	57697	FANCM
HP:0000144	Decreased fertility	2189	FANCG
HP:0000868	Decreased fertility in females	6736	SRY
HP:0012041	Decreased fertility in males	2189	FANCG
HP:0012041	Decreased fertility in males	6736	SRY
HP:0012041	Decreased fertility in males	8287	USP9Y
HP:0012041	Decreased fertility in males	57697	FANCM
HP:0001558	Decreased fetal movement	7681	MKRN3
HP:0001558	Decreased fetal movement	100128927	ZBTB42
HP:0040195	Decreased head circumference	10300	KATNB1
HP:0040195	Decreased head circumference	1123	CHN1
HP:0040195	Decreased head circumference	60528	ELAC2
HP:0040195	Decreased head circumference	8318	CDC45
HP:0040195	Decreased head circumference	2189	FANCG
HP:0040195	Decreased head circumference	57492	ARID1B
HP:0040195	Decreased head circumference	6305	SBF1
HP:0040195	Decreased head circumference	10516	FBLN5
HP:0040195	Decreased head circumference	9526	MPDU1
HP:0040195	Decreased head circumference	25939	SAMHD1
HP:0040195	Decreased head circumference	6496	SIX3
HP:0040195	Decreased head circumference	57697	FANCM
HP:0040195	Decreased head circumference	10617	STAMBP
HP:0040195	Decreased head circumference	7546	ZIC2
HP:0040195	Decreased head circumference	6575	SLC20A2
HP:0040195	Decreased head circumference	51660	MPC1
HP:0040195	Decreased head circumference	113179	ADAT3
HP:0040195	Decreased head circumference	54820	NDE1
HP:0040195	Decreased head circumference	1605	DAG1
HP:0040195	Decreased head circumference	5723	PSPH
HP:0040195	Decreased head circumference	613	BCR
HP:0040195	Decreased head circumference	3798	KIF5A
HP:0040195	Decreased head circumference	83696	TRAPPC9
HP:0040195	Decreased head circumference	6899	TBX1
HP:0040195	Decreased head circumference	5932	RBBP8
HP:0040195	Decreased head circumference	10084	PQBP1
HP:0040195	Decreased head circumference	283489	CHAMP1
HP:0040195	Decreased head circumference	1917	EEF1A2
HP:0040195	Decreased head circumference	55180	LINS1
HP:0040195	Decreased head circumference	79813	EHMT1
HP:0040195	Decreased head circumference	2006	ELN
HP:0040195	Decreased head circumference	9184	BUB3
HP:0040195	Decreased head circumference	23522	KAT6B
HP:0040195	Decreased head circumference	51199	NIN
HP:0040195	Decreased head circumference	5119	CHMP1A
HP:0003184	Decreased hip abduction	5130	PCYT1A
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	6295	SAG
HP:0001410	Decreased liver function	7957	EPM2A
HP:0001410	Decreased liver function	4729	NDUFV2
HP:0001410	Decreased liver function	80270	HSD3B7
HP:0001410	Decreased liver function	9652	TTC37
HP:0001410	Decreased liver function	55532	SLC30A10
HP:0001410	Decreased liver function	23534	TNPO3
HP:0003431	Decreased motor nerve conduction velocity	81846	SBF2
HP:0003431	Decreased motor nerve conduction velocity	9150	CTDP1
HP:0003199	Decreased muscle mass	7681	MKRN3
HP:0003199	Decreased muscle mass	80208	SPG11
HP:0000762	Decreased nerve conduction velocity	10516	FBLN5
HP:0000762	Decreased nerve conduction velocity	410	ARSA
HP:0000762	Decreased nerve conduction velocity	6305	SBF1
HP:0000762	Decreased nerve conduction velocity	81846	SBF2
HP:0000762	Decreased nerve conduction velocity	9150	CTDP1
HP:0000762	Decreased nerve conduction velocity	1130	LYST
HP:0003380	Decreased number of peripheral myelinated nerve fibers	80208	SPG11
HP:0003380	Decreased number of peripheral myelinated nerve fibers	81846	SBF2
HP:0011808	Decreased patellar reflex	10516	FBLN5
HP:0005407	Decreased proportion of CD4-positive T cells	3561	IL2RG
HP:0005415	Decreased proportion of CD8-positive T cells	3561	IL2RG
HP:0005421	Decreased serum complement C3	3426	CFI
HP:0005416	Decreased serum complement factor B	3426	CFI
HP:0005369	Decreased serum complement factor H	3426	CFI
HP:0005356	Decreased serum complement factor I	3426	CFI
HP:0008214	Decreased serum estradiol	6736	SRY
HP:0008214	Decreased serum estradiol	9150	CTDP1
HP:0040171	Decreased serum testosterone level	6736	SRY
HP:0004331	Decreased skull ossification	9321	TRIP11
HP:0008734	Decreased testicular size	6736	SRY
HP:0008734	Decreased testicular size	8287	USP9Y
HP:0008734	Decreased testicular size	10084	PQBP1
HP:0008734	Decreased testicular size	9150	CTDP1
HP:0008230	Decreased testosterone in males	6736	SRY
HP:0007321	Deep white matter hypodensities	25939	SAMHD1
HP:0000490	Deeply set eye	1123	CHN1
HP:0000490	Deeply set eye	613	BCR
HP:0000490	Deeply set eye	1917	EEF1A2
HP:0003514	Deficiency or absence of cytochrome b(-245)	1536	CYBB
HP:0002398	Degeneration of anterior horn cells	7443	VRK1
HP:0002314	Degeneration of the lateral corticospinal tracts	80208	SPG11
HP:0002314	Degeneration of the lateral corticospinal tracts	6687	SPG7
HP:0001944	Dehydration	4645	MYO5B
HP:0001944	Dehydration	56262	LRRC8A
HP:0001944	Dehydration	4594	MUT
HP:0002188	Delayed CNS myelination	4594	MUT
HP:0000270	Delayed cranial suture closure	10516	FBLN5
HP:0002663	Delayed epiphyseal ossification	126792	B3GALT6
HP:0000680	Delayed eruption of primary teeth	1909	EDNRA
HP:0000684	Delayed eruption of teeth	1909	EDNRA
HP:0000684	Delayed eruption of teeth	9361	LONP1
HP:0000684	Delayed eruption of teeth	57492	ARID1B
HP:0000684	Delayed eruption of teeth	2778	GNAS
HP:0000684	Delayed eruption of teeth	23522	KAT6B
HP:0002194	Delayed gross motor development	6531	SLC6A3
HP:0012448	Delayed myelination	3798	KIF5A
HP:0012448	Delayed myelination	4594	MUT
HP:0012448	Delayed myelination	10617	STAMBP
HP:0001216	Delayed ossification of carpal bones	9361	LONP1
HP:0008828	Delayed proximal femoral epiphyseal ossification	126792	B3GALT6
HP:0000823	Delayed puberty	7681	MKRN3
HP:0000823	Delayed puberty	6736	SRY
HP:0002750	Delayed skeletal maturation	6736	SRY
HP:0002750	Delayed skeletal maturation	8318	CDC45
HP:0002750	Delayed skeletal maturation	10892	MALT1
HP:0002750	Delayed skeletal maturation	9361	LONP1
HP:0002750	Delayed skeletal maturation	57492	ARID1B
HP:0002750	Delayed skeletal maturation	5932	RBBP8
HP:0002750	Delayed skeletal maturation	2006	ELN
HP:0002750	Delayed skeletal maturation	23522	KAT6B
HP:0002750	Delayed skeletal maturation	51199	NIN
HP:0000750	Delayed speech and language development	7681	MKRN3
HP:0000750	Delayed speech and language development	6660	SOX5
HP:0000750	Delayed speech and language development	1605	DAG1
HP:0000750	Delayed speech and language development	5230	PGK1
HP:0000750	Delayed speech and language development	57492	ARID1B
HP:0000750	Delayed speech and language development	2799	GNS
HP:0000750	Delayed speech and language development	6899	TBX1
HP:0000750	Delayed speech and language development	9526	MPDU1
HP:0000750	Delayed speech and language development	79813	EHMT1
HP:0000750	Delayed speech and language development	23522	KAT6B
HP:0000750	Delayed speech and language development	5119	CHMP1A
HP:0000746	Delusions	6899	TBX1
HP:0000746	Delusions	410	ARSA
HP:0000726	Dementia	7957	EPM2A
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	6575	SLC20A2
HP:0000678	Dental crowding	6660	SOX5
HP:0000678	Dental crowding	1909	EDNRA
HP:0000689	Dental malocclusion	5130	PCYT1A
HP:0000689	Dental malocclusion	2006	ELN
HP:0005280	Depressed nasal bridge	6660	SOX5
HP:0005280	Depressed nasal bridge	9321	TRIP11
HP:0005280	Depressed nasal bridge	9361	LONP1
HP:0005280	Depressed nasal bridge	57492	ARID1B
HP:0005280	Depressed nasal bridge	2778	GNAS
HP:0005280	Depressed nasal bridge	2799	GNS
HP:0005280	Depressed nasal bridge	7546	ZIC2
HP:0005280	Depressed nasal bridge	1917	EEF1A2
HP:0005280	Depressed nasal bridge	55180	LINS1
HP:0005280	Depressed nasal bridge	1954	MEGF8
HP:0005280	Depressed nasal bridge	2006	ELN
HP:0000457	Depressed nasal ridge	8516	ITGA8
HP:0000457	Depressed nasal ridge	57492	ARID1B
HP:0000457	Depressed nasal ridge	9652	TTC37
HP:0000457	Depressed nasal ridge	9184	BUB3
HP:0000457	Depressed nasal ridge	6899	TBX1
HP:0000716	Depressivity	613	BCR
HP:0000716	Depressivity	124590	USH1G
HP:0000716	Depressivity	8913	CACNA1G
HP:0000716	Depressivity	2778	GNAS
HP:0000716	Depressivity	6899	TBX1
HP:0000716	Depressivity	10518	CIB2
HP:0000716	Depressivity	1861	TOR1A
HP:0000716	Depressivity	6575	SLC20A2
HP:0000716	Depressivity	79813	EHMT1
HP:0000716	Depressivity	2006	ELN
HP:0004334	Dermal atrophy	126792	B3GALT6
HP:0004334	Dermal atrophy	2778	GNAS
HP:0011971	Dermatographic urticaria	23534	TNPO3
HP:0001005	Dermatological manifestations of systemic disorders	811	CALR
HP:0001005	Dermatological manifestations of systemic disorders	10599	SLCO1B1
HP:0001005	Dermatological manifestations of systemic disorders	1130	LYST
HP:0001005	Dermatological manifestations of systemic disorders	80270	HSD3B7
HP:0001005	Dermatological manifestations of systemic disorders	9652	TTC37
HP:0001005	Dermatological manifestations of systemic disorders	4023	LPL
HP:0001005	Dermatological manifestations of systemic disorders	23534	TNPO3
HP:0025247	Dermoid cyst	4488	MSX2
HP:0012499	Descending aortic dissection	2006	ELN
HP:0004959	Descending thoracic aorta aneurysm	2006	ELN
HP:0007549	Desquamation of skin soon after birth	3561	IL2RG
HP:0002376	Developmental regression	1130	LYST
HP:0002376	Developmental regression	4729	NDUFV2
HP:0002376	Developmental regression	2006	ELN
HP:0007281	Developmental stagnation	3798	KIF5A
HP:0004097	Deviation of finger	7681	MKRN3
HP:0004097	Deviation of finger	9775	EIF4A3
HP:0004097	Deviation of finger	613	BCR
HP:0004097	Deviation of finger	112752	IFT43
HP:0004097	Deviation of finger	8318	CDC45
HP:0004097	Deviation of finger	10370	CITED2
HP:0004097	Deviation of finger	2189	FANCG
HP:0004097	Deviation of finger	9361	LONP1
HP:0004097	Deviation of finger	57492	ARID1B
HP:0004097	Deviation of finger	83696	TRAPPC9
HP:0004097	Deviation of finger	6899	TBX1
HP:0004097	Deviation of finger	5932	RBBP8
HP:0004097	Deviation of finger	57697	FANCM
HP:0004097	Deviation of finger	10084	PQBP1
HP:0004097	Deviation of finger	10682	EBP
HP:0004097	Deviation of finger	2006	ELN
HP:0004097	Deviation of finger	9184	BUB3
HP:0004097	Deviation of finger	23522	KAT6B
HP:0009179	Deviation of the 5th finger	9775	EIF4A3
HP:0009179	Deviation of the 5th finger	613	BCR
HP:0009179	Deviation of the 5th finger	112752	IFT43
HP:0009179	Deviation of the 5th finger	8318	CDC45
HP:0009179	Deviation of the 5th finger	10370	CITED2
HP:0009179	Deviation of the 5th finger	2189	FANCG
HP:0009179	Deviation of the 5th finger	57492	ARID1B
HP:0009179	Deviation of the 5th finger	83696	TRAPPC9
HP:0009179	Deviation of the 5th finger	6899	TBX1
HP:0009179	Deviation of the 5th finger	5932	RBBP8
HP:0009179	Deviation of the 5th finger	57697	FANCM
HP:0009179	Deviation of the 5th finger	10084	PQBP1
HP:0009179	Deviation of the 5th finger	10682	EBP
HP:0009179	Deviation of the 5th finger	2006	ELN
HP:0009179	Deviation of the 5th finger	9184	BUB3
HP:0009179	Deviation of the 5th finger	23522	KAT6B
HP:0010344	Deviation of the 5th toe	6049	RNF6
HP:0010051	Deviation of the hallux	126792	B3GALT6
HP:0010051	Deviation of the hallux	6736	SRY
HP:0010051	Deviation of the hallux	2006	ELN
HP:0010051	Deviation of the hallux	5932	RBBP8
HP:0009484	Deviation of the hand or of fingers of the hand	7681	MKRN3
HP:0009484	Deviation of the hand or of fingers of the hand	9775	EIF4A3
HP:0009484	Deviation of the hand or of fingers of the hand	613	BCR
HP:0009484	Deviation of the hand or of fingers of the hand	112752	IFT43
HP:0009484	Deviation of the hand or of fingers of the hand	8318	CDC45
HP:0009484	Deviation of the hand or of fingers of the hand	10370	CITED2
HP:0009484	Deviation of the hand or of fingers of the hand	2189	FANCG
HP:0009484	Deviation of the hand or of fingers of the hand	9361	LONP1
HP:0009484	Deviation of the hand or of fingers of the hand	57492	ARID1B
HP:0009484	Deviation of the hand or of fingers of the hand	83696	TRAPPC9
HP:0009484	Deviation of the hand or of fingers of the hand	6899	TBX1
HP:0009484	Deviation of the hand or of fingers of the hand	5932	RBBP8
HP:0009484	Deviation of the hand or of fingers of the hand	57167	SALL4
HP:0009484	Deviation of the hand or of fingers of the hand	57697	FANCM
HP:0009484	Deviation of the hand or of fingers of the hand	10084	PQBP1
HP:0009484	Deviation of the hand or of fingers of the hand	10682	EBP
HP:0009484	Deviation of the hand or of fingers of the hand	2006	ELN
HP:0009484	Deviation of the hand or of fingers of the hand	9184	BUB3
HP:0009484	Deviation of the hand or of fingers of the hand	23522	KAT6B
HP:0009603	Deviation of the thumb	9361	LONP1
HP:0009603	Deviation of the thumb	9775	EIF4A3
HP:0100498	Deviation of toes	6049	RNF6
HP:0100498	Deviation of toes	5932	RBBP8
HP:0100498	Deviation of toes	9775	EIF4A3
HP:0100498	Deviation of toes	126792	B3GALT6
HP:0100498	Deviation of toes	6736	SRY
HP:0100498	Deviation of toes	2006	ELN
HP:0001651	Dextrocardia	78987	CRELD1
HP:0001651	Dextrocardia	1954	MEGF8
HP:0001651	Dextrocardia	10084	PQBP1
HP:0001651	Dextrocardia	79600	TCTN1
HP:0000873	Diabetes insipidus	6496	SIX3
HP:0000819	Diabetes mellitus	7681	MKRN3
HP:0000819	Diabetes mellitus	5148	PDE6G
HP:0000819	Diabetes mellitus	6295	SAG
HP:0000819	Diabetes mellitus	2778	GNAS
HP:0000819	Diabetes mellitus	64218	SEMA4A
HP:0000819	Diabetes mellitus	7486	WRN
HP:0000819	Diabetes mellitus	5506	PPP1R3A
HP:0000819	Diabetes mellitus	346007	EYS
HP:0000819	Diabetes mellitus	2006	ELN
HP:0011146	Dialeptic seizures	3908	LAMA2
HP:0011146	Dialeptic seizures	79813	EHMT1
HP:0011146	Dialeptic seizures	2566	GABRG2
HP:0011146	Dialeptic seizures	57492	ARID1B
HP:0011146	Dialeptic seizures	7957	EPM2A
HP:0003034	Diaphyseal sclerosis	2778	GNAS
HP:0002014	Diarrhea	4645	MYO5B
HP:0002014	Diarrhea	118429	ANTXR2
HP:0002014	Diarrhea	4261	CIITA
HP:0002014	Diarrhea	3257	HPS1
HP:0002014	Diarrhea	2799	GNS
HP:0002014	Diarrhea	26873	OPLAH
HP:0002014	Diarrhea	83737	ITCH
HP:0002014	Diarrhea	1908	EDN3
HP:0002014	Diarrhea	23417	MLYCD
HP:0002014	Diarrhea	80270	HSD3B7
HP:0002014	Diarrhea	9652	TTC37
HP:0002014	Diarrhea	51128	SAR1B
HP:0002014	Diarrhea	56262	LRRC8A
HP:0002014	Diarrhea	3561	IL2RG
HP:0003215	Dicarboxylic aciduria	4594	MUT
HP:0002355	Difficulty walking	81846	SBF2
HP:0002617	Dilatation	10516	FBLN5
HP:0002617	Dilatation	613	BCR
HP:0002617	Dilatation	2006	ELN
HP:0002617	Dilatation	4091	SMAD6
HP:0004944	Dilatation of the cerebral artery	2006	ELN
HP:0010946	Dilatation of the renal pelvis	64321	SOX17
HP:0010946	Dilatation of the renal pelvis	57167	SALL4
HP:0010946	Dilatation of the renal pelvis	57492	ARID1B
HP:0010946	Dilatation of the renal pelvis	10682	EBP
HP:0010946	Dilatation of the renal pelvis	23522	KAT6B
HP:0010946	Dilatation of the renal pelvis	6899	TBX1
HP:0001644	Dilated cardiomyopathy	6443	SGCB
HP:0001644	Dilated cardiomyopathy	4607	MYBPC3
HP:0002198	Dilated fourth ventricle	1605	DAG1
HP:0002198	Dilated fourth ventricle	2683	B4GALT1
HP:0002198	Dilated fourth ventricle	57492	ARID1B
HP:0002198	Dilated fourth ventricle	10682	EBP
HP:0002198	Dilated fourth ventricle	9184	BUB3
HP:0000745	Diminished motivation	79813	EHMT1
HP:0002374	Diminished movement	3908	LAMA2
HP:0000651	Diplopia	8913	CACNA1G
HP:0007417	Discoid lupus rash	1536	CYBB
HP:0003083	Dislocated radial head	126792	B3GALT6
HP:0003083	Dislocated radial head	57492	ARID1B
HP:0100627	Displacement of the external urethral meatus	6736	SRY
HP:0100627	Displacement of the external urethral meatus	8318	CDC45
HP:0100627	Displacement of the external urethral meatus	2189	FANCG
HP:0100627	Displacement of the external urethral meatus	57492	ARID1B
HP:0100627	Displacement of the external urethral meatus	6899	TBX1
HP:0100627	Displacement of the external urethral meatus	5932	RBBP8
HP:0100627	Displacement of the external urethral meatus	57697	FANCM
HP:0100627	Displacement of the external urethral meatus	10084	PQBP1
HP:0100627	Displacement of the external urethral meatus	79813	EHMT1
HP:0003498	Disproportionate short stature	5130	PCYT1A
HP:0003498	Disproportionate short stature	10682	EBP
HP:0003498	Disproportionate short stature	9321	TRIP11
HP:0003498	Disproportionate short stature	112752	IFT43
HP:0008873	Disproportionate short-limb short stature	5130	PCYT1A
HP:0008873	Disproportionate short-limb short stature	10682	EBP
HP:0008873	Disproportionate short-limb short stature	112752	IFT43
HP:0003521	Disproportionate short-trunk short stature	9321	TRIP11
HP:0003693	Distal amyotrophy	4361	MRE11
HP:0003693	Distal amyotrophy	10516	FBLN5
HP:0003693	Distal amyotrophy	81846	SBF2
HP:0003693	Distal amyotrophy	80208	SPG11
HP:0002460	Distal muscle weakness	10516	FBLN5
HP:0002460	Distal muscle weakness	81846	SBF2
HP:0002460	Distal muscle weakness	80208	SPG11
HP:0007067	Distal peripheral sensory neuropathy	80208	SPG11
HP:0002936	Distal sensory impairment	10516	FBLN5
HP:0002936	Distal sensory impairment	6305	SBF1
HP:0002936	Distal sensory impairment	81846	SBF2
HP:0002936	Distal sensory impairment	80208	SPG11
HP:0002936	Distal sensory impairment	3798	KIF5A
HP:0007149	Distal upper limb amyotrophy	80208	SPG11
HP:0000268	Dolichocephaly	7681	MKRN3
HP:0000268	Dolichocephaly	83737	ITCH
HP:0000268	Dolichocephaly	57697	FANCM
HP:0000268	Dolichocephaly	112752	IFT43
HP:0000268	Dolichocephaly	10370	CITED2
HP:0000268	Dolichocephaly	2189	FANCG
HP:0001719	Double outlet right ventricle	6899	TBX1
HP:0200021	Down-sloping shoulders	2006	ELN
HP:0000494	Downslanted palpebral fissures	6660	SOX5
HP:0000494	Downslanted palpebral fissures	57492	ARID1B
HP:0000494	Downslanted palpebral fissures	6899	TBX1
HP:0000494	Downslanted palpebral fissures	5932	RBBP8
HP:0000494	Downslanted palpebral fissures	23394	ADNP
HP:0000494	Downslanted palpebral fissures	1908	EDN3
HP:0000494	Downslanted palpebral fissures	1917	EEF1A2
HP:0000494	Downslanted palpebral fissures	9652	TTC37
HP:0000494	Downslanted palpebral fissures	10682	EBP
HP:0000494	Downslanted palpebral fissures	9184	BUB3
HP:0000494	Downslanted palpebral fissures	23522	KAT6B
HP:0002714	Downturned corners of mouth	7681	MKRN3
HP:0002714	Downturned corners of mouth	79813	EHMT1
HP:0002714	Downturned corners of mouth	83696	TRAPPC9
HP:0002714	Downturned corners of mouth	1917	EEF1A2
HP:0002307	Drooling	2799	GNS
HP:0011510	Drusen	10516	FBLN5
HP:0011359	Dry hair	10084	PQBP1
HP:0000958	Dry skin	9526	MPDU1
HP:0000958	Dry skin	25913	POT1
HP:0000958	Dry skin	25939	SAMHD1
HP:0000958	Dry skin	112752	IFT43
HP:0000958	Dry skin	3561	IL2RG
HP:0009921	Duane anomaly	1123	CHN1
HP:0009921	Duane anomaly	57167	SALL4
HP:0002247	Duodenal atresia	9184	BUB3
HP:0100867	Duodenal stenosis	2189	FANCG
HP:0100867	Duodenal stenosis	57697	FANCM
HP:0100867	Duodenal stenosis	8318	CDC45
HP:0002588	Duodenal ulcer	57492	ARID1B
HP:0009136	Duplication involving bones of the feet	1954	MEGF8
HP:0009136	Duplication involving bones of the feet	10682	EBP
HP:0009136	Duplication involving bones of the feet	79600	TCTN1
HP:0009136	Duplication involving bones of the feet	6899	TBX1
HP:0009142	Duplication of bones involving the upper extremities	57167	SALL4
HP:0009142	Duplication of bones involving the upper extremities	1123	CHN1
HP:0009142	Duplication of bones involving the upper extremities	1954	MEGF8
HP:0009142	Duplication of bones involving the upper extremities	79600	TCTN1
HP:0009142	Duplication of bones involving the upper extremities	6899	TBX1
HP:0004275	Duplication of hand bones	57167	SALL4
HP:0004275	Duplication of hand bones	1123	CHN1
HP:0004275	Duplication of hand bones	1954	MEGF8
HP:0004275	Duplication of hand bones	79600	TCTN1
HP:0004275	Duplication of hand bones	6899	TBX1
HP:0009997	Duplication of phalanx of hand	57167	SALL4
HP:0009997	Duplication of phalanx of hand	1123	CHN1
HP:0009997	Duplication of phalanx of hand	1954	MEGF8
HP:0009997	Duplication of phalanx of hand	79600	TCTN1
HP:0009997	Duplication of phalanx of hand	6899	TBX1
HP:0100775	Dural ectasia	2006	ELN
HP:0001260	Dysarthria	6687	SPG7
HP:0001260	Dysarthria	8913	CACNA1G
HP:0001260	Dysarthria	55532	SLC30A10
HP:0001260	Dysarthria	2799	GNS
HP:0001260	Dysarthria	4361	MRE11
HP:0001260	Dysarthria	1861	TOR1A
HP:0001260	Dysarthria	80208	SPG11
HP:0001260	Dysarthria	410	ARSA
HP:0001260	Dysarthria	6575	SLC20A2
HP:0001260	Dysarthria	255928	SYT14
HP:0001260	Dysarthria	2006	ELN
HP:0001260	Dysarthria	23522	KAT6B
HP:0001260	Dysarthria	4594	MUT
HP:0002442	Dyscalculia	6736	SRY
HP:0002075	Dysdiadochokinesis	4361	MRE11
HP:0002075	Dysdiadochokinesis	6575	SLC20A2
HP:0010526	Dysgraphia	2006	ELN
HP:0100660	Dyskinesia	6531	SLC6A3
HP:0100660	Dyskinesia	2778	GNAS
HP:0001310	Dysmetria	6575	SLC20A2
HP:0001310	Dysmetria	9150	CTDP1
HP:0001310	Dysmetria	2006	ELN
HP:0000943	Dysostosis multiplex	2799	GNS
HP:0002015	Dysphagia	6687	SPG7
HP:0002015	Dysphagia	5156	PDGFRA
HP:0002015	Dysphagia	8913	CACNA1G
HP:0002015	Dysphagia	3798	KIF5A
HP:0002015	Dysphagia	2799	GNS
HP:0002015	Dysphagia	3908	LAMA2
HP:0002015	Dysphagia	80208	SPG11
HP:0002015	Dysphagia	255928	SYT14
HP:0002015	Dysphagia	23522	KAT6B
HP:0002015	Dysphagia	5119	CHMP1A
HP:0002357	Dysphasia	57492	ARID1B
HP:0002357	Dysphasia	79813	EHMT1
HP:0002357	Dysphasia	6899	TBX1
HP:0001618	Dysphonia	2006	ELN
HP:0001618	Dysphonia	2778	GNAS
HP:0002094	Dyspnea	8318	CDC45
HP:0002094	Dyspnea	2778	GNAS
HP:0002094	Dyspnea	9997	SCO2
HP:0002094	Dyspnea	10516	FBLN5
HP:0002094	Dyspnea	3949	LDLR
HP:0002094	Dyspnea	51660	MPC1
HP:0002094	Dyspnea	2006	ELN
HP:0002094	Dyspnea	4594	MUT
HP:0001332	Dystonia	1123	CHN1
HP:0001332	Dystonia	2778	GNAS
HP:0001332	Dystonia	55532	SLC30A10
HP:0001332	Dystonia	4361	MRE11
HP:0001332	Dystonia	1861	TOR1A
HP:0001332	Dystonia	6531	SLC6A3
HP:0001332	Dystonia	410	ARSA
HP:0001332	Dystonia	6575	SLC20A2
HP:0001332	Dystonia	4594	MUT
HP:0002353	EEG abnormality	2566	GABRG2
HP:0002353	EEG abnormality	1917	EEF1A2
HP:0011198	EEG with generalized epileptiform discharges	1917	EEF1A2
HP:0003457	EMG abnormality	7443	VRK1
HP:0003457	EMG abnormality	80208	SPG11
HP:0003457	EMG abnormality	410	ARSA
HP:0003457	EMG abnormality	51128	SAR1B
HP:0003457	EMG abnormality	4607	MYBPC3
HP:0003458	EMG: myopathic abnormalities	51128	SAR1B
HP:0003445	EMG: neuropathic changes	7443	VRK1
HP:0003445	EMG: neuropathic changes	410	ARSA
HP:0100000	Early onset of sexual maturation	7681	MKRN3
HP:0100000	Early onset of sexual maturation	2006	ELN
HP:0100000	Early onset of sexual maturation	2778	GNAS
HP:0010529	Echolalia	79813	EHMT1
HP:0010529	Echolalia	57492	ARID1B
HP:0012472	Eclabion	57492	ARID1B
HP:0012472	Eclabion	79813	EHMT1
HP:0012472	Eclabion	2006	ELN
HP:0012472	Eclabion	1123	CHN1
HP:0012472	Eclabion	283489	CHAMP1
HP:0012472	Eclabion	112752	IFT43
HP:0012472	Eclabion	1909	EDNRA
HP:0012472	Eclabion	1917	EEF1A2
HP:0000968	Ectodermal dysplasia	112752	IFT43
HP:0001083	Ectopia lentis	126792	B3GALT6
HP:0010766	Ectopic calcification	7486	WRN
HP:0010766	Ectopic calcification	1605	DAG1
HP:0010766	Ectopic calcification	25939	SAMHD1
HP:0010766	Ectopic calcification	3949	LDLR
HP:0010766	Ectopic calcification	6575	SLC20A2
HP:0010766	Ectopic calcification	10682	EBP
HP:0010766	Ectopic calcification	2778	GNAS
HP:0010766	Ectopic calcification	4091	SMAD6
HP:0000086	Ectopic kidney	57492	ARID1B
HP:0000086	Ectopic kidney	5932	RBBP8
HP:0000086	Ectopic kidney	57167	SALL4
HP:0000086	Ectopic kidney	2006	ELN
HP:0000086	Ectopic kidney	1123	CHN1
HP:0011986	Ectopic ossification	2778	GNAS
HP:0011987	Ectopic ossification in muscle tissue	2778	GNAS
HP:0100028	Ectopic thyroid	23522	KAT6B
HP:0100257	Ectrodactyly	81846	SBF2
HP:0100257	Ectrodactyly	9150	CTDP1
HP:0000964	Eczema	1536	CYBB
HP:0000964	Eczema	57492	ARID1B
HP:0000964	Eczema	6899	TBX1
HP:0000976	Eczematoid dermatitis	1536	CYBB
HP:0000969	Edema	5148	PDE6G
HP:0000969	Edema	9321	TRIP11
HP:0000969	Edema	1130	LYST
HP:0000969	Edema	4729	NDUFV2
HP:0000969	Edema	118429	ANTXR2
HP:0000969	Edema	3908	LAMA2
HP:0000969	Edema	10682	EBP
HP:0000969	Edema	445	ASS1
HP:0000969	Edema	2006	ELN
HP:0000969	Edema	9184	BUB3
HP:0000969	Edema	23522	KAT6B
HP:0000969	Edema	3561	IL2RG
HP:0003042	Elbow dislocation	57492	ARID1B
HP:0003042	Elbow dislocation	126792	B3GALT6
HP:0003042	Elbow dislocation	8318	CDC45
HP:0003465	Elevated 8(9)-cholestenol	10682	EBP
HP:0003462	Elevated 8-dehydrocholesterol	10682	EBP
HP:0003155	Elevated alkaline phosphatase	23534	TNPO3
HP:0003155	Elevated alkaline phosphatase	57592	ZNF687
HP:0003528	Elevated calcitonin	2778	GNAS
HP:0008232	Elevated circulating follicle stimulating hormone level	6736	SRY
HP:0011969	Elevated circulating luteinizing hormone level	6736	SRY
HP:0003165	Elevated circulating parathyroid hormone level	2778	GNAS
HP:0005117	Elevated diastolic blood pressure	5740	PTGIS
HP:0002910	Elevated hepatic transaminases	80270	HSD3B7
HP:0002910	Elevated hepatic transaminases	51128	SAR1B
HP:0002910	Elevated hepatic transaminases	2778	GNAS
HP:0002910	Elevated hepatic transaminases	55532	SLC30A10
HP:0004972	Elevated mean arterial pressure	5740	PTGIS
HP:0004890	Elevated pulmonary artery pressure	3908	LAMA2
HP:0003236	Elevated serum creatine phosphokinase	1605	DAG1
HP:0003236	Elevated serum creatine phosphokinase	2683	B4GALT1
HP:0003236	Elevated serum creatine phosphokinase	6443	SGCB
HP:0003236	Elevated serum creatine phosphokinase	3908	LAMA2
HP:0003236	Elevated serum creatine phosphokinase	2006	ELN
HP:0003236	Elevated serum creatine phosphokinase	4607	MYBPC3
HP:0004421	Elevated systolic blood pressure	5740	PTGIS
HP:0040156	Elevated urinary carboxylic acid	3242	HPD
HP:0004428	Elfin facies	2006	ELN
HP:0002898	Embryonal neoplasm	6736	SRY
HP:0002898	Embryonal neoplasm	9184	BUB3
HP:0011794	Embryonal renal neoplasm	6736	SRY
HP:0011794	Embryonal renal neoplasm	9184	BUB3
HP:0000712	Emotional lability	410	ARSA
HP:0000712	Emotional lability	5230	PGK1
HP:0002097	Emphysema	10516	FBLN5
HP:0002097	Emphysema	2006	ELN
HP:0002383	Encephalitis	4261	CIITA
HP:0002084	Encephalocele	4488	MSX2
HP:0002084	Encephalocele	5130	PCYT1A
HP:0002084	Encephalocele	79600	TCTN1
HP:0001298	Encephalopathy	4729	NDUFV2
HP:0001298	Encephalopathy	1917	EEF1A2
HP:0001298	Encephalopathy	51660	MPC1
HP:0006685	Endocardial fibrosis	5156	PDGFRA
HP:0008683	Enlarged labia minora	23522	KAT6B
HP:0100625	Enlarged thorax	23522	KAT6B
HP:0100625	Enlarged thorax	9321	TRIP11
HP:0004387	Enterocolitis	26873	OPLAH
HP:0012181	Entrapment neuropathy	2778	GNAS
HP:0000805	Enuresis	2006	ELN
HP:0001880	Eosinophilia	5156	PDGFRA
HP:0001880	Eosinophilia	3561	IL2RG
HP:0000286	Epicanthus	6660	SOX5
HP:0000286	Epicanthus	6736	SRY
HP:0000286	Epicanthus	112752	IFT43
HP:0000286	Epicanthus	2189	FANCG
HP:0000286	Epicanthus	9361	LONP1
HP:0000286	Epicanthus	57492	ARID1B
HP:0000286	Epicanthus	83696	TRAPPC9
HP:0000286	Epicanthus	6899	TBX1
HP:0000286	Epicanthus	8516	ITGA8
HP:0000286	Epicanthus	126792	B3GALT6
HP:0000286	Epicanthus	57167	SALL4
HP:0000286	Epicanthus	57697	FANCM
HP:0000286	Epicanthus	10084	PQBP1
HP:0000286	Epicanthus	283489	CHAMP1
HP:0000286	Epicanthus	1917	EEF1A2
HP:0000286	Epicanthus	1954	MEGF8
HP:0000286	Epicanthus	10682	EBP
HP:0000286	Epicanthus	56262	LRRC8A
HP:0000286	Epicanthus	51660	MPC1
HP:0000286	Epicanthus	2006	ELN
HP:0000286	Epicanthus	9184	BUB3
HP:0011368	Epidermal thickening	6768	ST14
HP:0011368	Epidermal thickening	57609	DIP2B
HP:0011368	Epidermal thickening	9526	MPDU1
HP:0011368	Epidermal thickening	7486	WRN
HP:0011368	Epidermal thickening	79719	AAGAB
HP:0011368	Epidermal thickening	5506	PPP1R3A
HP:0011368	Epidermal thickening	10682	EBP
HP:0011368	Epidermal thickening	4607	MYBPC3
HP:0200134	Epileptic encephalopathy	1917	EEF1A2
HP:0011097	Epileptic spasms	79813	EHMT1
HP:0011097	Epileptic spasms	57492	ARID1B
HP:0011182	Epileptiform EEG discharges	1917	EEF1A2
HP:0009926	Epiphora	64218	SEMA4A
HP:0010655	Epiphyseal stippling	10682	EBP
HP:0002574	Episodic abdominal pain	4023	LPL
HP:0001951	Episodic ammonia intoxication	445	ASS1
HP:0001954	Episodic fever	7128	TNFAIP3
HP:0004911	Episodic metabolic acidosis	56922	MCCC1
HP:0002876	Episodic tachypnea	79600	TCTN1
HP:0000039	Epispadias	6736	SRY
HP:0000039	Epispadias	8318	CDC45
HP:0000421	Epistaxis	3257	HPS1
HP:0000421	Epistaxis	1130	LYST
HP:0001013	Eruptive xanthomas	4023	LPL
HP:0010783	Erythema	10682	EBP
HP:0001019	Erythroderma	3561	IL2RG
HP:0001019	Erythroderma	9526	MPDU1
HP:0001019	Erythroderma	10682	EBP
HP:0020045	Esodeviation	7681	MKRN3
HP:0020045	Esodeviation	113179	ADAT3
HP:0020045	Esodeviation	6899	TBX1
HP:0020045	Esodeviation	5119	CHMP1A
HP:0002032	Esophageal atresia	2189	FANCG
HP:0002032	Esophageal atresia	57697	FANCM
HP:0011459	Esophageal carcinoma	6049	RNF6
HP:0100751	Esophageal neoplasm	6049	RNF6
HP:0100751	Esophageal neoplasm	5156	PDGFRA
HP:0025312	Esophoria	6899	TBX1
HP:0000565	Esotropia	7681	MKRN3
HP:0000565	Esotropia	113179	ADAT3
HP:0000565	Esotropia	6899	TBX1
HP:0000565	Esotropia	5119	CHMP1A
HP:0000232	Everted lower lip vermilion	57492	ARID1B
HP:0000232	Everted lower lip vermilion	79813	EHMT1
HP:0000232	Everted lower lip vermilion	2006	ELN
HP:0000232	Everted lower lip vermilion	1123	CHN1
HP:0000232	Everted lower lip vermilion	283489	CHAMP1
HP:0000232	Everted lower lip vermilion	112752	IFT43
HP:0000232	Everted lower lip vermilion	1909	EDNRA
HP:0000232	Everted lower lip vermilion	1917	EEF1A2
HP:0002711	Exaggerated median tongue furrow	6660	SOX5
HP:0001262	Excessive daytime somnolence	23534	TNPO3
HP:0003781	Excessive salivation	2799	GNS
HP:0007392	Excessive wrinkled skin	57492	ARID1B
HP:0003546	Exercise intolerance	5230	PGK1
HP:0003546	Exercise intolerance	4729	NDUFV2
HP:0003710	Exercise-induced muscle cramps	5230	PGK1
HP:0008305	Exercise-induced myoglobinuria	5230	PGK1
HP:0002875	Exertional dyspnea	2006	ELN
HP:0020049	Exodeviation	6660	SOX5
HP:0020049	Exodeviation	6899	TBX1
HP:0100777	Exostoses	126792	B3GALT6
HP:0000577	Exotropia	6660	SOX5
HP:0000577	Exotropia	6899	TBX1
HP:0002474	Expressive language delay	57492	ARID1B
HP:0008572	External ear malformation	2189	FANCG
HP:0008572	External ear malformation	56262	LRRC8A
HP:0008572	External ear malformation	57697	FANCM
HP:0008572	External ear malformation	1123	CHN1
HP:0003241	External genital hypoplasia	5148	PDE6G
HP:0003241	External genital hypoplasia	8287	USP9Y
HP:0003241	External genital hypoplasia	8318	CDC45
HP:0003241	External genital hypoplasia	57492	ARID1B
HP:0003241	External genital hypoplasia	6295	SAG
HP:0003241	External genital hypoplasia	7681	MKRN3
HP:0003241	External genital hypoplasia	1605	DAG1
HP:0003241	External genital hypoplasia	6736	SRY
HP:0003241	External genital hypoplasia	64218	SEMA4A
HP:0003241	External genital hypoplasia	10084	PQBP1
HP:0003241	External genital hypoplasia	346007	EYS
HP:0003241	External genital hypoplasia	1954	MEGF8
HP:0003241	External genital hypoplasia	9150	CTDP1
HP:0003241	External genital hypoplasia	79813	EHMT1
HP:0003241	External genital hypoplasia	2006	ELN
HP:0003241	External genital hypoplasia	23522	KAT6B
HP:0000544	External ophthalmoplegia	57167	SALL4
HP:0005242	Extrahepatic biliary duct atresia	9361	LONP1
HP:0000625	Eyelid coloboma	25939	SAMHD1
HP:0000625	Eyelid coloboma	23394	ADNP
HP:0000625	Eyelid coloboma	1909	EDNRA
HP:0031166	Eyelid myokymia	8913	CACNA1G
HP:0000324	Facial asymmetry	6660	SOX5
HP:0000324	Facial asymmetry	2189	FANCG
HP:0000324	Facial asymmetry	2254	FGF9
HP:0000324	Facial asymmetry	57167	SALL4
HP:0000324	Facial asymmetry	2778	GNAS
HP:0000324	Facial asymmetry	57697	FANCM
HP:0000324	Facial asymmetry	1123	CHN1
HP:0000324	Facial asymmetry	613	BCR
HP:0000324	Facial asymmetry	1909	EDNRA
HP:0000282	Facial edema	2006	ELN
HP:0002219	Facial hypertrichosis	57492	ARID1B
HP:0002219	Facial hypertrichosis	79813	EHMT1
HP:0002219	Facial hypertrichosis	2799	GNS
HP:0002219	Facial hypertrichosis	83696	TRAPPC9
HP:0002219	Facial hypertrichosis	1908	EDN3
HP:0002219	Facial hypertrichosis	7546	ZIC2
HP:0000297	Facial hypotonia	283489	CHAMP1
HP:0010628	Facial palsy	3908	LAMA2
HP:0010628	Facial palsy	57167	SALL4
HP:0011334	Facial shape deformation	8516	ITGA8
HP:0001508	Failure to thrive	60528	ELAC2
HP:0001508	Failure to thrive	8318	CDC45
HP:0001508	Failure to thrive	57492	ARID1B
HP:0001508	Failure to thrive	4261	CIITA
HP:0001508	Failure to thrive	3242	HPD
HP:0001508	Failure to thrive	9526	MPDU1
HP:0001508	Failure to thrive	3394	IRF8
HP:0001508	Failure to thrive	10617	STAMBP
HP:0001508	Failure to thrive	80270	HSD3B7
HP:0001508	Failure to thrive	9652	TTC37
HP:0001508	Failure to thrive	10682	EBP
HP:0001508	Failure to thrive	445	ASS1
HP:0001508	Failure to thrive	3561	IL2RG
HP:0001508	Failure to thrive	4594	MUT
HP:0001508	Failure to thrive	7681	MKRN3
HP:0001508	Failure to thrive	113179	ADAT3
HP:0001508	Failure to thrive	56922	MCCC1
HP:0001508	Failure to thrive	4729	NDUFV2
HP:0001508	Failure to thrive	118429	ANTXR2
HP:0001508	Failure to thrive	2778	GNAS
HP:0001508	Failure to thrive	6899	TBX1
HP:0001508	Failure to thrive	1908	EDN3
HP:0001508	Failure to thrive	51128	SAR1B
HP:0001508	Failure to thrive	79813	EHMT1
HP:0001508	Failure to thrive	56262	LRRC8A
HP:0001508	Failure to thrive	2006	ELN
HP:0001508	Failure to thrive	23522	KAT6B
HP:0001531	Failure to thrive in infancy	7681	MKRN3
HP:0001531	Failure to thrive in infancy	2006	ELN
HP:0001531	Failure to thrive in infancy	56922	MCCC1
HP:0001531	Failure to thrive in infancy	1908	EDN3
HP:0002380	Fasciculations	7443	VRK1
HP:0002380	Fasciculations	80208	SPG11
HP:0002630	Fat malabsorption	80270	HSD3B7
HP:0002630	Fat malabsorption	118429	ANTXR2
HP:0002630	Fat malabsorption	51128	SAR1B
HP:0012378	Fatigue	5156	PDGFRA
HP:0012378	Fatigue	613	BCR
HP:0012378	Fatigue	10892	MALT1
HP:0012378	Fatigue	2778	GNAS
HP:0012378	Fatigue	56262	LRRC8A
HP:0012378	Fatigue	23534	TNPO3
HP:0002373	Febrile seizures	2566	GABRG2
HP:0011968	Feeding difficulties	8318	CDC45
HP:0011968	Feeding difficulties	57492	ARID1B
HP:0011968	Feeding difficulties	7443	VRK1
HP:0011968	Feeding difficulties	9526	MPDU1
HP:0011968	Feeding difficulties	25939	SAMHD1
HP:0011968	Feeding difficulties	6531	SLC6A3
HP:0011968	Feeding difficulties	4594	MUT
HP:0011968	Feeding difficulties	7681	MKRN3
HP:0011968	Feeding difficulties	6660	SOX5
HP:0011968	Feeding difficulties	9775	EIF4A3
HP:0011968	Feeding difficulties	56922	MCCC1
HP:0011968	Feeding difficulties	4729	NDUFV2
HP:0011968	Feeding difficulties	118429	ANTXR2
HP:0011968	Feeding difficulties	3798	KIF5A
HP:0011968	Feeding difficulties	79600	TCTN1
HP:0011968	Feeding difficulties	6899	TBX1
HP:0011968	Feeding difficulties	9997	SCO2
HP:0011968	Feeding difficulties	3908	LAMA2
HP:0011968	Feeding difficulties	23394	ADNP
HP:0011968	Feeding difficulties	10084	PQBP1
HP:0011968	Feeding difficulties	283489	CHAMP1
HP:0011968	Feeding difficulties	1908	EDN3
HP:0011968	Feeding difficulties	6049	RNF6
HP:0011968	Feeding difficulties	79813	EHMT1
HP:0011968	Feeding difficulties	2006	ELN
HP:0011968	Feeding difficulties	23522	KAT6B
HP:0008872	Feeding difficulties in infancy	7681	MKRN3
HP:0008872	Feeding difficulties in infancy	56922	MCCC1
HP:0008872	Feeding difficulties in infancy	4729	NDUFV2
HP:0008872	Feeding difficulties in infancy	57492	ARID1B
HP:0008872	Feeding difficulties in infancy	79600	TCTN1
HP:0008872	Feeding difficulties in infancy	6899	TBX1
HP:0008872	Feeding difficulties in infancy	9997	SCO2
HP:0008872	Feeding difficulties in infancy	7443	VRK1
HP:0008872	Feeding difficulties in infancy	3908	LAMA2
HP:0008872	Feeding difficulties in infancy	25939	SAMHD1
HP:0008872	Feeding difficulties in infancy	10084	PQBP1
HP:0008872	Feeding difficulties in infancy	6049	RNF6
HP:0008872	Feeding difficulties in infancy	2006	ELN
HP:0008872	Feeding difficulties in infancy	23522	KAT6B
HP:0008730	Female external genitalia in individual with 46,XY karyotype	6736	SRY
HP:0002980	Femoral bowing	5130	PCYT1A
HP:0100541	Femoral hernia	79813	EHMT1
HP:0100541	Femoral hernia	9321	TRIP11
HP:0100541	Femoral hernia	6899	TBX1
HP:0001563	Fetal polyuria	8516	ITGA8
HP:0011425	Fetal ultrasound soft marker	23522	KAT6B
HP:0011425	Fetal ultrasound soft marker	9321	TRIP11
HP:0001945	Fever	1536	CYBB
HP:0001945	Fever	3394	IRF8
HP:0001945	Fever	613	BCR
HP:0001945	Fever	10599	SLCO1B1
HP:0001945	Fever	1130	LYST
HP:0001945	Fever	10892	MALT1
HP:0001945	Fever	56262	LRRC8A
HP:0001945	Fever	7128	TNFAIP3
HP:0001945	Fever	3561	IL2RG
HP:0007429	Few cafe-au-lait spots	5932	RBBP8
HP:0010614	Fibroma	118429	ANTXR2
HP:0010614	Fibroma	5156	PDGFRA
HP:0010734	Fibrous dysplasia of the bones	2778	GNAS
HP:0012316	Fibrous tissue neoplasm	118429	ANTXR2
HP:0012316	Fibrous tissue neoplasm	5156	PDGFRA
HP:0003038	Fibular hypoplasia	9775	EIF4A3
HP:0002213	Fine hair	3242	HPD
HP:0002213	Fine hair	9652	TTC37
HP:0002213	Fine hair	23522	KAT6B
HP:0002213	Fine hair	112752	IFT43
HP:0040019	Finger clinodactyly	9775	EIF4A3
HP:0040019	Finger clinodactyly	613	BCR
HP:0040019	Finger clinodactyly	112752	IFT43
HP:0040019	Finger clinodactyly	8318	CDC45
HP:0040019	Finger clinodactyly	10370	CITED2
HP:0040019	Finger clinodactyly	2189	FANCG
HP:0040019	Finger clinodactyly	57492	ARID1B
HP:0040019	Finger clinodactyly	83696	TRAPPC9
HP:0040019	Finger clinodactyly	6899	TBX1
HP:0040019	Finger clinodactyly	5932	RBBP8
HP:0040019	Finger clinodactyly	57697	FANCM
HP:0040019	Finger clinodactyly	10084	PQBP1
HP:0040019	Finger clinodactyly	10682	EBP
HP:0040019	Finger clinodactyly	2006	ELN
HP:0040019	Finger clinodactyly	9184	BUB3
HP:0040019	Finger clinodactyly	23522	KAT6B
HP:0006101	Finger syndactyly	57167	SALL4
HP:0006101	Finger syndactyly	57697	FANCM
HP:0006101	Finger syndactyly	112752	IFT43
HP:0006101	Finger syndactyly	2189	FANCG
HP:0006101	Finger syndactyly	1954	MEGF8
HP:0002869	Flared iliac wings	126792	B3GALT6
HP:0003015	Flared metaphysis	126792	B3GALT6
HP:0000904	Flaring of rib cage	126792	B3GALT6
HP:0007720	Flat cornea	2006	ELN
HP:0012368	Flat face	9361	LONP1
HP:0012368	Flat face	10682	EBP
HP:0012368	Flat face	79813	EHMT1
HP:0012368	Flat face	126792	B3GALT6
HP:0012368	Flat face	9321	TRIP11
HP:0005469	Flat occiput	79813	EHMT1
HP:0001371	Flexion contracture	1123	CHN1
HP:0001371	Flexion contracture	8318	CDC45
HP:0001371	Flexion contracture	57492	ARID1B
HP:0001371	Flexion contracture	7443	VRK1
HP:0001371	Flexion contracture	9526	MPDU1
HP:0001371	Flexion contracture	80208	SPG11
HP:0001371	Flexion contracture	25939	SAMHD1
HP:0001371	Flexion contracture	100128927	ZBTB42
HP:0001371	Flexion contracture	54820	NDE1
HP:0001371	Flexion contracture	1605	DAG1
HP:0001371	Flexion contracture	613	BCR
HP:0001371	Flexion contracture	118429	ANTXR2
HP:0001371	Flexion contracture	2799	GNS
HP:0001371	Flexion contracture	83737	ITCH
HP:0001371	Flexion contracture	3908	LAMA2
HP:0001371	Flexion contracture	126792	B3GALT6
HP:0001371	Flexion contracture	10084	PQBP1
HP:0001371	Flexion contracture	1954	MEGF8
HP:0001371	Flexion contracture	9150	CTDP1
HP:0001371	Flexion contracture	2006	ELN
HP:0001371	Flexion contracture	23522	KAT6B
HP:0001371	Flexion contracture	5119	CHMP1A
HP:0030044	Flexion contracture of digit	1123	CHN1
HP:0030044	Flexion contracture of digit	613	BCR
HP:0030044	Flexion contracture of digit	8318	CDC45
HP:0030044	Flexion contracture of digit	57492	ARID1B
HP:0030044	Flexion contracture of digit	118429	ANTXR2
HP:0030044	Flexion contracture of digit	83737	ITCH
HP:0030044	Flexion contracture of digit	10084	PQBP1
HP:0030044	Flexion contracture of digit	1954	MEGF8
HP:0030044	Flexion contracture of digit	9150	CTDP1
HP:0030044	Flexion contracture of digit	23522	KAT6B
HP:0012785	Flexion contracture of finger	613	BCR
HP:0012785	Flexion contracture of finger	8318	CDC45
HP:0012785	Flexion contracture of finger	57492	ARID1B
HP:0012785	Flexion contracture of finger	118429	ANTXR2
HP:0012785	Flexion contracture of finger	9150	CTDP1
HP:0012785	Flexion contracture of finger	23522	KAT6B
HP:0002266	Focal clonic seizures	2566	GABRG2
HP:0004373	Focal dystonia	1861	TOR1A
HP:0004373	Focal dystonia	2778	GNAS
HP:0004373	Focal dystonia	1123	CHN1
HP:0011153	Focal motor seizures	2566	GABRG2
HP:0000097	Focal segmental glomerulosclerosis	7225	TRPC6
HP:0007359	Focal seizures	2566	GABRG2
HP:0007359	Focal seizures	7957	EPM2A
HP:0007359	Focal seizures	27286	SRPX2
HP:0007359	Focal seizures	3908	LAMA2
HP:0002384	Focal seizures with impairment of consciousness or awareness	2566	GABRG2
HP:0002349	Focal seizures without impairment of consciousness or awareness	7957	EPM2A
HP:0009027	Foot dorsiflexor weakness	80208	SPG11
HP:0009027	Foot dorsiflexor weakness	1130	LYST
HP:0009027	Foot dorsiflexor weakness	81846	SBF2
HP:0001829	Foot polydactyly	1954	MEGF8
HP:0001829	Foot polydactyly	10682	EBP
HP:0001829	Foot polydactyly	79600	TCTN1
HP:0001829	Foot polydactyly	6899	TBX1
HP:0009821	Forearm undergrowth	2189	FANCG
HP:0009821	Forearm undergrowth	9775	EIF4A3
HP:0009821	Forearm undergrowth	57167	SALL4
HP:0009821	Forearm undergrowth	57697	FANCM
HP:0009821	Forearm undergrowth	1123	CHN1
HP:0009821	Forearm undergrowth	9321	TRIP11
HP:0001030	Fragile skin	126792	B3GALT6
HP:0007603	Freckles in sun-exposed areas	3257	HPS1
HP:0001480	Freckling	25913	POT1
HP:0001480	Freckling	3257	HPS1
HP:0002359	Frequent falls	4361	MRE11
HP:0002007	Frontal bossing	6660	SOX5
HP:0002007	Frontal bossing	9321	TRIP11
HP:0002007	Frontal bossing	112752	IFT43
HP:0002007	Frontal bossing	2189	FANCG
HP:0002007	Frontal bossing	2799	GNS
HP:0002007	Frontal bossing	83737	ITCH
HP:0002007	Frontal bossing	57697	FANCM
HP:0002007	Frontal bossing	4488	MSX2
HP:0002007	Frontal bossing	1954	MEGF8
HP:0002007	Frontal bossing	9652	TTC37
HP:0002007	Frontal bossing	10682	EBP
HP:0002007	Frontal bossing	9184	BUB3
HP:0002236	Frontal upsweep of hair	7681	MKRN3
HP:0007095	Frontoparietal polymicrogyria	27286	SRPX2
HP:0000293	Full cheeks	10516	FBLN5
HP:0000293	Full cheeks	2006	ELN
HP:0000293	Full cheeks	2778	GNAS
HP:0000025	Functional abnormality of male internal genitalia	6736	SRY
HP:0000025	Functional abnormality of male internal genitalia	8287	USP9Y
HP:0000025	Functional abnormality of male internal genitalia	57697	FANCM
HP:0000025	Functional abnormality of male internal genitalia	2189	FANCG
HP:0000025	Functional abnormality of male internal genitalia	2006	ELN
HP:0000009	Functional abnormality of the bladder	6687	SPG7
HP:0000009	Functional abnormality of the bladder	8318	CDC45
HP:0000009	Functional abnormality of the bladder	6305	SBF1
HP:0000009	Functional abnormality of the bladder	8913	CACNA1G
HP:0000009	Functional abnormality of the bladder	3798	KIF5A
HP:0000009	Functional abnormality of the bladder	6899	TBX1
HP:0000009	Functional abnormality of the bladder	10516	FBLN5
HP:0000009	Functional abnormality of the bladder	64321	SOX17
HP:0000009	Functional abnormality of the bladder	57167	SALL4
HP:0000009	Functional abnormality of the bladder	80208	SPG11
HP:0000009	Functional abnormality of the bladder	10617	STAMBP
HP:0000009	Functional abnormality of the bladder	410	ARSA
HP:0000009	Functional abnormality of the bladder	6575	SLC20A2
HP:0000009	Functional abnormality of the bladder	79813	EHMT1
HP:0000009	Functional abnormality of the bladder	2006	ELN
HP:0012719	Functional abnormality of the gastrointestinal tract	5156	PDGFRA
HP:0012719	Functional abnormality of the gastrointestinal tract	1130	LYST
HP:0012719	Functional abnormality of the gastrointestinal tract	57492	ARID1B
HP:0012719	Functional abnormality of the gastrointestinal tract	4261	CIITA
HP:0012719	Functional abnormality of the gastrointestinal tract	3257	HPS1
HP:0012719	Functional abnormality of the gastrointestinal tract	26873	OPLAH
HP:0012719	Functional abnormality of the gastrointestinal tract	10516	FBLN5
HP:0012719	Functional abnormality of the gastrointestinal tract	80208	SPG11
HP:0012719	Functional abnormality of the gastrointestinal tract	6531	SLC6A3
HP:0012719	Functional abnormality of the gastrointestinal tract	80270	HSD3B7
HP:0012719	Functional abnormality of the gastrointestinal tract	6660	SOX5
HP:0012719	Functional abnormality of the gastrointestinal tract	6687	SPG7
HP:0012719	Functional abnormality of the gastrointestinal tract	8913	CACNA1G
HP:0012719	Functional abnormality of the gastrointestinal tract	3798	KIF5A
HP:0012719	Functional abnormality of the gastrointestinal tract	4842	NOS1
HP:0012719	Functional abnormality of the gastrointestinal tract	2799	GNS
HP:0012719	Functional abnormality of the gastrointestinal tract	6899	TBX1
HP:0012719	Functional abnormality of the gastrointestinal tract	3908	LAMA2
HP:0012719	Functional abnormality of the gastrointestinal tract	283489	CHAMP1
HP:0012719	Functional abnormality of the gastrointestinal tract	1908	EDN3
HP:0012719	Functional abnormality of the gastrointestinal tract	255928	SYT14
HP:0012719	Functional abnormality of the gastrointestinal tract	79813	EHMT1
HP:0012719	Functional abnormality of the gastrointestinal tract	2006	ELN
HP:0012719	Functional abnormality of the gastrointestinal tract	7128	TNFAIP3
HP:0012719	Functional abnormality of the gastrointestinal tract	23522	KAT6B
HP:0012719	Functional abnormality of the gastrointestinal tract	23534	TNPO3
HP:0012719	Functional abnormality of the gastrointestinal tract	5119	CHMP1A
HP:0011389	Functional abnormality of the inner ear	5148	PDE6G
HP:0011389	Functional abnormality of the inner ear	1123	CHN1
HP:0011389	Functional abnormality of the inner ear	9361	LONP1
HP:0011389	Functional abnormality of the inner ear	57492	ARID1B
HP:0011389	Functional abnormality of the inner ear	6295	SAG
HP:0011389	Functional abnormality of the inner ear	10518	CIB2
HP:0011389	Functional abnormality of the inner ear	10682	EBP
HP:0011389	Functional abnormality of the inner ear	4607	MYBPC3
HP:0011389	Functional abnormality of the inner ear	4646	MYO6
HP:0011389	Functional abnormality of the inner ear	152137	CCDC50
HP:0011389	Functional abnormality of the inner ear	613	BCR
HP:0011389	Functional abnormality of the inner ear	4729	NDUFV2
HP:0011389	Functional abnormality of the inner ear	124590	USH1G
HP:0011389	Functional abnormality of the inner ear	2778	GNAS
HP:0011389	Functional abnormality of the inner ear	64218	SEMA4A
HP:0011389	Functional abnormality of the inner ear	375611	SLC26A5
HP:0011389	Functional abnormality of the inner ear	57167	SALL4
HP:0011389	Functional abnormality of the inner ear	1908	EDN3
HP:0011389	Functional abnormality of the inner ear	346007	EYS
HP:0011389	Functional abnormality of the inner ear	1954	MEGF8
HP:0011389	Functional abnormality of the inner ear	81846	SBF2
HP:0011389	Functional abnormality of the inner ear	2006	ELN
HP:0011389	Functional abnormality of the inner ear	23522	KAT6B
HP:0011452	Functional abnormality of the middle ear	5148	PDE6G
HP:0011452	Functional abnormality of the middle ear	6295	SAG
HP:0011452	Functional abnormality of the middle ear	2254	FGF9
HP:0011452	Functional abnormality of the middle ear	64218	SEMA4A
HP:0011452	Functional abnormality of the middle ear	84189	SLITRK6
HP:0011452	Functional abnormality of the middle ear	6899	TBX1
HP:0011452	Functional abnormality of the middle ear	57167	SALL4
HP:0011452	Functional abnormality of the middle ear	1909	EDNRA
HP:0011452	Functional abnormality of the middle ear	346007	EYS
HP:0004302	Functional motor deficit	4361	MRE11
HP:0004302	Functional motor deficit	5230	PGK1
HP:0004302	Functional motor deficit	4729	NDUFV2
HP:0004302	Functional motor deficit	81846	SBF2
HP:0002795	Functional respiratory abnormality	8318	CDC45
HP:0002795	Functional respiratory abnormality	10516	FBLN5
HP:0002795	Functional respiratory abnormality	80208	SPG11
HP:0002795	Functional respiratory abnormality	51660	MPC1
HP:0002795	Functional respiratory abnormality	4594	MUT
HP:0002795	Functional respiratory abnormality	4729	NDUFV2
HP:0002795	Functional respiratory abnormality	2778	GNAS
HP:0002795	Functional respiratory abnormality	6899	TBX1
HP:0002795	Functional respiratory abnormality	811	CALR
HP:0002795	Functional respiratory abnormality	56262	LRRC8A
HP:0002795	Functional respiratory abnormality	9184	BUB3
HP:0002795	Functional respiratory abnormality	23522	KAT6B
HP:0002795	Functional respiratory abnormality	3257	HPS1
HP:0002795	Functional respiratory abnormality	7443	VRK1
HP:0002795	Functional respiratory abnormality	1536	CYBB
HP:0002795	Functional respiratory abnormality	7681	MKRN3
HP:0002795	Functional respiratory abnormality	1605	DAG1
HP:0002795	Functional respiratory abnormality	56922	MCCC1
HP:0002795	Functional respiratory abnormality	79600	TCTN1
HP:0002795	Functional respiratory abnormality	9997	SCO2
HP:0002795	Functional respiratory abnormality	3908	LAMA2
HP:0002795	Functional respiratory abnormality	3949	LDLR
HP:0002795	Functional respiratory abnormality	1908	EDN3
HP:0002795	Functional respiratory abnormality	6049	RNF6
HP:0002795	Functional respiratory abnormality	2006	ELN
HP:0000221	Furrowed tongue	6660	SOX5
HP:0002949	Fused cervical vertebrae	57167	SALL4
HP:0002066	Gait ataxia	4361	MRE11
HP:0002066	Gait ataxia	1181	CLCN2
HP:0002066	Gait ataxia	6687	SPG7
HP:0002066	Gait ataxia	283489	CHAMP1
HP:0001288	Gait disturbance	1130	LYST
HP:0001288	Gait disturbance	1181	CLCN2
HP:0001288	Gait disturbance	6305	SBF1
HP:0001288	Gait disturbance	4361	MRE11
HP:0001288	Gait disturbance	80208	SPG11
HP:0001288	Gait disturbance	410	ARSA
HP:0001288	Gait disturbance	6575	SLC20A2
HP:0001288	Gait disturbance	6687	SPG7
HP:0001288	Gait disturbance	8913	CACNA1G
HP:0001288	Gait disturbance	79600	TCTN1
HP:0001288	Gait disturbance	7957	EPM2A
HP:0001288	Gait disturbance	3908	LAMA2
HP:0001288	Gait disturbance	1861	TOR1A
HP:0001288	Gait disturbance	283489	CHAMP1
HP:0001288	Gait disturbance	1917	EEF1A2
HP:0001288	Gait disturbance	81846	SBF2
HP:0001288	Gait disturbance	2006	ELN
HP:0002141	Gait imbalance	2006	ELN
HP:0100829	Galactorrhea	2778	GNAS
HP:0012023	Galactosuria	9652	TTC37
HP:0005609	Gallbladder dysfunction	410	ARSA
HP:0006747	Ganglioneuroblastoma	1908	EDN3
HP:0003005	Ganglioneuroma	1908	EDN3
HP:0002592	Gastric ulcer	57492	ARID1B
HP:0002020	Gastroesophageal reflux	6660	SOX5
HP:0002020	Gastroesophageal reflux	3908	LAMA2
HP:0002020	Gastroesophageal reflux	283489	CHAMP1
HP:0002020	Gastroesophageal reflux	6531	SLC6A3
HP:0002020	Gastroesophageal reflux	79813	EHMT1
HP:0002020	Gastroesophageal reflux	2006	ELN
HP:0002020	Gastroesophageal reflux	23522	KAT6B
HP:0002020	Gastroesophageal reflux	6899	TBX1
HP:0002020	Gastroesophageal reflux	5119	CHMP1A
HP:0002589	Gastrointestinal atresia	2189	FANCG
HP:0002589	Gastrointestinal atresia	9184	BUB3
HP:0002589	Gastrointestinal atresia	57697	FANCM
HP:0002672	Gastrointestinal carcinoma	7486	WRN
HP:0002579	Gastrointestinal dysmotility	10516	FBLN5
HP:0002579	Gastrointestinal dysmotility	4842	NOS1
HP:0002239	Gastrointestinal hemorrhage	5156	PDGFRA
HP:0002239	Gastrointestinal hemorrhage	1130	LYST
HP:0002239	Gastrointestinal hemorrhage	80270	HSD3B7
HP:0002239	Gastrointestinal hemorrhage	3257	HPS1
HP:0002239	Gastrointestinal hemorrhage	6899	TBX1
HP:0004386	Gastrointestinal inflammation	4261	CIITA
HP:0004386	Gastrointestinal inflammation	3257	HPS1
HP:0004386	Gastrointestinal inflammation	7128	TNFAIP3
HP:0004386	Gastrointestinal inflammation	23534	TNPO3
HP:0004386	Gastrointestinal inflammation	26873	OPLAH
HP:0004796	Gastrointestinal obstruction	10516	FBLN5
HP:0004796	Gastrointestinal obstruction	5156	PDGFRA
HP:0004796	Gastrointestinal obstruction	1908	EDN3
HP:0100723	Gastrointestinal stroma tumor	5156	PDGFRA
HP:0000640	Gaze-evoked nystagmus	4361	MRE11
HP:0000640	Gaze-evoked nystagmus	80208	SPG11
HP:0011354	Generalized abnormality of skin	5156	PDGFRA
HP:0011354	Generalized abnormality of skin	1130	LYST
HP:0011354	Generalized abnormality of skin	112752	IFT43
HP:0011354	Generalized abnormality of skin	57492	ARID1B
HP:0011354	Generalized abnormality of skin	3257	HPS1
HP:0011354	Generalized abnormality of skin	4361	MRE11
HP:0011354	Generalized abnormality of skin	10516	FBLN5
HP:0011354	Generalized abnormality of skin	7486	WRN
HP:0011354	Generalized abnormality of skin	22852	ANKRD26
HP:0011354	Generalized abnormality of skin	25939	SAMHD1
HP:0011354	Generalized abnormality of skin	10599	SLCO1B1
HP:0011354	Generalized abnormality of skin	5506	PPP1R3A
HP:0011354	Generalized abnormality of skin	80270	HSD3B7
HP:0011354	Generalized abnormality of skin	6575	SLC20A2
HP:0011354	Generalized abnormality of skin	9652	TTC37
HP:0011354	Generalized abnormality of skin	10682	EBP
HP:0011354	Generalized abnormality of skin	3561	IL2RG
HP:0011354	Generalized abnormality of skin	1536	CYBB
HP:0011354	Generalized abnormality of skin	7681	MKRN3
HP:0011354	Generalized abnormality of skin	2566	GABRG2
HP:0011354	Generalized abnormality of skin	118429	ANTXR2
HP:0011354	Generalized abnormality of skin	2778	GNAS
HP:0011354	Generalized abnormality of skin	6899	TBX1
HP:0011354	Generalized abnormality of skin	7957	EPM2A
HP:0011354	Generalized abnormality of skin	811	CALR
HP:0011354	Generalized abnormality of skin	5932	RBBP8
HP:0011354	Generalized abnormality of skin	126792	B3GALT6
HP:0011354	Generalized abnormality of skin	1908	EDN3
HP:0011354	Generalized abnormality of skin	4023	LPL
HP:0011354	Generalized abnormality of skin	2006	ELN
HP:0011354	Generalized abnormality of skin	23534	TNPO3
HP:0003216	Generalized amyloid deposition	2934	GSN
HP:0002230	Generalized hirsutism	57492	ARID1B
HP:0002230	Generalized hirsutism	2778	GNAS
HP:0007440	Generalized hyperpigmentation	2778	GNAS
HP:0007440	Generalized hyperpigmentation	1130	LYST
HP:0007513	Generalized hypopigmentation	7681	MKRN3
HP:0007513	Generalized hypopigmentation	1130	LYST
HP:0007513	Generalized hypopigmentation	3257	HPS1
HP:0011358	Generalized hypopigmentation of hair	1130	LYST
HP:0001290	Generalized hypotonia	60528	ELAC2
HP:0001290	Generalized hypotonia	9361	LONP1
HP:0001290	Generalized hypotonia	7443	VRK1
HP:0001290	Generalized hypotonia	288	ANK3
HP:0001290	Generalized hypotonia	9526	MPDU1
HP:0001290	Generalized hypotonia	6496	SIX3
HP:0001290	Generalized hypotonia	10617	STAMBP
HP:0001290	Generalized hypotonia	410	ARSA
HP:0001290	Generalized hypotonia	10682	EBP
HP:0001290	Generalized hypotonia	51660	MPC1
HP:0001290	Generalized hypotonia	4594	MUT
HP:0001290	Generalized hypotonia	7681	MKRN3
HP:0001290	Generalized hypotonia	6660	SOX5
HP:0001290	Generalized hypotonia	113179	ADAT3
HP:0001290	Generalized hypotonia	1605	DAG1
HP:0001290	Generalized hypotonia	56922	MCCC1
HP:0001290	Generalized hypotonia	4729	NDUFV2
HP:0001290	Generalized hypotonia	2683	B4GALT1
HP:0001290	Generalized hypotonia	3798	KIF5A
HP:0001290	Generalized hypotonia	9997	SCO2
HP:0001290	Generalized hypotonia	3908	LAMA2
HP:0001290	Generalized hypotonia	1861	TOR1A
HP:0001290	Generalized hypotonia	126792	B3GALT6
HP:0001290	Generalized hypotonia	23394	ADNP
HP:0001290	Generalized hypotonia	283489	CHAMP1
HP:0001290	Generalized hypotonia	23417	MLYCD
HP:0001290	Generalized hypotonia	55180	LINS1
HP:0001290	Generalized hypotonia	79813	EHMT1
HP:0001290	Generalized hypotonia	2006	ELN
HP:0001290	Generalized hypotonia	23522	KAT6B
HP:0001290	Generalized hypotonia	5119	CHMP1A
HP:0002123	Generalized myoclonic seizures	2566	GABRG2
HP:0002123	Generalized myoclonic seizures	7957	EPM2A
HP:0002123	Generalized myoclonic seizures	54820	NDE1
HP:0002123	Generalized myoclonic seizures	83696	TRAPPC9
HP:0002197	Generalized seizures	2566	GABRG2
HP:0002197	Generalized seizures	7957	EPM2A
HP:0002197	Generalized seizures	54820	NDE1
HP:0002197	Generalized seizures	3908	LAMA2
HP:0002197	Generalized seizures	57492	ARID1B
HP:0002197	Generalized seizures	79813	EHMT1
HP:0002197	Generalized seizures	83696	TRAPPC9
HP:0002069	Generalized tonic-clonic seizures	2566	GABRG2
HP:0002069	Generalized tonic-clonic seizures	7957	EPM2A
HP:0007334	Generalized tonic-clonic seizures with focal onset	2566	GABRG2
HP:0007334	Generalized tonic-clonic seizures with focal onset	7957	EPM2A
HP:0010787	Genital neoplasm	4361	MRE11
HP:0010787	Genital neoplasm	7486	WRN
HP:0010787	Genital neoplasm	6736	SRY
HP:0010787	Genital neoplasm	2778	GNAS
HP:0010787	Genital neoplasm	9184	BUB3
HP:0001827	Genital tract atresia	8516	ITGA8
HP:0003249	Genital ulcers	7128	TNFAIP3
HP:0002816	Genu recurvatum	9150	CTDP1
HP:0002857	Genu valgum	9361	LONP1
HP:0002857	Genu valgum	1954	MEGF8
HP:0002857	Genu valgum	126792	B3GALT6
HP:0002857	Genu valgum	2006	ELN
HP:0100728	Germ cell neoplasia	6736	SRY
HP:0200084	Giant cell hepatitis	80270	HSD3B7
HP:0005592	Giant melanosomes in melanocytes	1130	LYST
HP:0000225	Gingival bleeding	1130	LYST
HP:0000225	Gingival bleeding	3257	HPS1
HP:0000169	Gingival fibromatosis	118429	ANTXR2
HP:0000212	Gingival overgrowth	118429	ANTXR2
HP:0000212	Gingival overgrowth	2006	ELN
HP:0000230	Gingivitis	1536	CYBB
HP:0000230	Gingivitis	126792	B3GALT6
HP:0000230	Gingivitis	1130	LYST
HP:0000501	Glaucoma	5148	PDE6G
HP:0000501	Glaucoma	1605	DAG1
HP:0000501	Glaucoma	6736	SRY
HP:0000501	Glaucoma	6295	SAG
HP:0000501	Glaucoma	64218	SEMA4A
HP:0000501	Glaucoma	6899	TBX1
HP:0000501	Glaucoma	5932	RBBP8
HP:0000501	Glaucoma	346007	EYS
HP:0000501	Glaucoma	81846	SBF2
HP:0000501	Glaucoma	10682	EBP
HP:0000501	Glaucoma	2006	ELN
HP:0000501	Glaucoma	9184	BUB3
HP:0002171	Gliosis	9997	SCO2
HP:0002171	Gliosis	7443	VRK1
HP:0001263	Global developmental delay	10300	KATNB1
HP:0001263	Global developmental delay	8318	CDC45
HP:0001263	Global developmental delay	2189	FANCG
HP:0001263	Global developmental delay	57492	ARID1B
HP:0001263	Global developmental delay	10518	CIB2
HP:0001263	Global developmental delay	6496	SIX3
HP:0001263	Global developmental delay	57697	FANCM
HP:0001263	Global developmental delay	10617	STAMBP
HP:0001263	Global developmental delay	6531	SLC6A3
HP:0001263	Global developmental delay	10682	EBP
HP:0001263	Global developmental delay	445	ASS1
HP:0001263	Global developmental delay	51660	MPC1
HP:0001263	Global developmental delay	4594	MUT
HP:0001263	Global developmental delay	6660	SOX5
HP:0001263	Global developmental delay	4645	MYO5B
HP:0001263	Global developmental delay	613	BCR
HP:0001263	Global developmental delay	4729	NDUFV2
HP:0001263	Global developmental delay	2683	B4GALT1
HP:0001263	Global developmental delay	6899	TBX1
HP:0001263	Global developmental delay	23394	ADNP
HP:0001263	Global developmental delay	283489	CHAMP1
HP:0001263	Global developmental delay	23417	MLYCD
HP:0001263	Global developmental delay	9150	CTDP1
HP:0001263	Global developmental delay	9184	BUB3
HP:0001263	Global developmental delay	23522	KAT6B
HP:0001263	Global developmental delay	5119	CHMP1A
HP:0001263	Global developmental delay	5130	PCYT1A
HP:0001263	Global developmental delay	1123	CHN1
HP:0001263	Global developmental delay	1130	LYST
HP:0001263	Global developmental delay	5230	PGK1
HP:0001263	Global developmental delay	60528	ELAC2
HP:0001263	Global developmental delay	9361	LONP1
HP:0001263	Global developmental delay	7443	VRK1
HP:0001263	Global developmental delay	9526	MPDU1
HP:0001263	Global developmental delay	25939	SAMHD1
HP:0001263	Global developmental delay	7546	ZIC2
HP:0001263	Global developmental delay	7681	MKRN3
HP:0001263	Global developmental delay	54820	NDE1
HP:0001263	Global developmental delay	9775	EIF4A3
HP:0001263	Global developmental delay	1605	DAG1
HP:0001263	Global developmental delay	56922	MCCC1
HP:0001263	Global developmental delay	5723	PSPH
HP:0001263	Global developmental delay	124590	USH1G
HP:0001263	Global developmental delay	83696	TRAPPC9
HP:0001263	Global developmental delay	79600	TCTN1
HP:0001263	Global developmental delay	9997	SCO2
HP:0001263	Global developmental delay	83737	ITCH
HP:0001263	Global developmental delay	5932	RBBP8
HP:0001263	Global developmental delay	126792	B3GALT6
HP:0001263	Global developmental delay	10084	PQBP1
HP:0001263	Global developmental delay	1917	EEF1A2
HP:0001263	Global developmental delay	55180	LINS1
HP:0001263	Global developmental delay	1954	MEGF8
HP:0001263	Global developmental delay	255928	SYT14
HP:0001263	Global developmental delay	79813	EHMT1
HP:0001263	Global developmental delay	51199	NIN
HP:0000099	Glomerulonephritis	3426	CFI
HP:0000096	Glomerulosclerosis	7225	TRPC6
HP:0000162	Glossoptosis	1909	EDNRA
HP:0000833	Glucose intolerance	2006	ELN
HP:0000853	Goiter	2778	GNAS
HP:0000133	Gonadal dysgenesis	6736	SRY
HP:0010785	Gonadal neoplasm	4361	MRE11
HP:0010785	Gonadal neoplasm	7486	WRN
HP:0010785	Gonadal neoplasm	6736	SRY
HP:0010785	Gonadal neoplasm	2778	GNAS
HP:0000150	Gonadoblastoma	6736	SRY
HP:0010985	Gonosomal inheritance	1536	CYBB
HP:0010985	Gonosomal inheritance	6736	SRY
HP:0010985	Gonosomal inheritance	8287	USP9Y
HP:0010985	Gonosomal inheritance	5230	PGK1
HP:0010985	Gonosomal inheritance	4729	NDUFV2
HP:0010985	Gonosomal inheritance	10084	PQBP1
HP:0010985	Gonosomal inheritance	10682	EBP
HP:0010985	Gonosomal inheritance	3561	IL2RG
HP:0003391	Gowers sign	1605	DAG1
HP:0002955	Granulomatosis	1536	CYBB
HP:0002281	Gray matter heterotopias	23522	KAT6B
HP:0001507	Growth abnormality	8318	CDC45
HP:0001507	Growth abnormality	57492	ARID1B
HP:0001507	Growth abnormality	4261	CIITA
HP:0001507	Growth abnormality	57697	FANCM
HP:0001507	Growth abnormality	445	ASS1
HP:0001507	Growth abnormality	4594	MUT
HP:0001507	Growth abnormality	4645	MYO5B
HP:0001507	Growth abnormality	613	BCR
HP:0001507	Growth abnormality	4729	NDUFV2
HP:0001507	Growth abnormality	9150	CTDP1
HP:0001507	Growth abnormality	9184	BUB3
HP:0001507	Growth abnormality	5130	PCYT1A
HP:0001507	Growth abnormality	5148	PDE6G
HP:0001507	Growth abnormality	9321	TRIP11
HP:0001507	Growth abnormality	9361	LONP1
HP:0001507	Growth abnormality	9526	MPDU1
HP:0001507	Growth abnormality	9652	TTC37
HP:0001507	Growth abnormality	54820	NDE1
HP:0001507	Growth abnormality	9775	EIF4A3
HP:0001507	Growth abnormality	5723	PSPH
HP:0001507	Growth abnormality	83696	TRAPPC9
HP:0001507	Growth abnormality	5932	RBBP8
HP:0001507	Growth abnormality	10084	PQBP1
HP:0001507	Growth abnormality	1908	EDN3
HP:0001507	Growth abnormality	55180	LINS1
HP:0001507	Growth abnormality	346007	EYS
HP:0001507	Growth abnormality	1954	MEGF8
HP:0001507	Growth abnormality	51128	SAR1B
HP:0001507	Growth abnormality	79813	EHMT1
HP:0001507	Growth abnormality	2006	ELN
HP:0001507	Growth abnormality	51199	NIN
HP:0001507	Growth abnormality	112752	IFT43
HP:0001507	Growth abnormality	10370	CITED2
HP:0001507	Growth abnormality	2189	FANCG
HP:0001507	Growth abnormality	6295	SAG
HP:0001507	Growth abnormality	10516	FBLN5
HP:0001507	Growth abnormality	80208	SPG11
HP:0001507	Growth abnormality	10617	STAMBP
HP:0001507	Growth abnormality	80270	HSD3B7
HP:0001507	Growth abnormality	6575	SLC20A2
HP:0001507	Growth abnormality	10682	EBP
HP:0001507	Growth abnormality	113179	ADAT3
HP:0001507	Growth abnormality	6736	SRY
HP:0001507	Growth abnormality	10841	FTCD
HP:0001507	Growth abnormality	10892	MALT1
HP:0001507	Growth abnormality	2778	GNAS
HP:0001507	Growth abnormality	64218	SEMA4A
HP:0001507	Growth abnormality	2799	GNS
HP:0001507	Growth abnormality	6899	TBX1
HP:0001507	Growth abnormality	23394	ADNP
HP:0001507	Growth abnormality	23417	MLYCD
HP:0001507	Growth abnormality	56262	LRRC8A
HP:0001507	Growth abnormality	23522	KAT6B
HP:0001507	Growth abnormality	60528	ELAC2
HP:0001507	Growth abnormality	3242	HPD
HP:0001507	Growth abnormality	7486	WRN
HP:0001507	Growth abnormality	3394	IRF8
HP:0001507	Growth abnormality	3561	IL2RG
HP:0001507	Growth abnormality	7681	MKRN3
HP:0001507	Growth abnormality	56922	MCCC1
HP:0001507	Growth abnormality	118429	ANTXR2
HP:0001507	Growth abnormality	3908	LAMA2
HP:0001507	Growth abnormality	126792	B3GALT6
HP:0001507	Growth abnormality	57167	SALL4
HP:0001510	Growth delay	112752	IFT43
HP:0001510	Growth delay	8318	CDC45
HP:0001510	Growth delay	10370	CITED2
HP:0001510	Growth delay	2189	FANCG
HP:0001510	Growth delay	57492	ARID1B
HP:0001510	Growth delay	57697	FANCM
HP:0001510	Growth delay	10617	STAMBP
HP:0001510	Growth delay	6575	SLC20A2
HP:0001510	Growth delay	10682	EBP
HP:0001510	Growth delay	4594	MUT
HP:0001510	Growth delay	4645	MYO5B
HP:0001510	Growth delay	6736	SRY
HP:0001510	Growth delay	10841	FTCD
HP:0001510	Growth delay	613	BCR
HP:0001510	Growth delay	4729	NDUFV2
HP:0001510	Growth delay	10892	MALT1
HP:0001510	Growth delay	2778	GNAS
HP:0001510	Growth delay	6899	TBX1
HP:0001510	Growth delay	23394	ADNP
HP:0001510	Growth delay	23417	MLYCD
HP:0001510	Growth delay	9150	CTDP1
HP:0001510	Growth delay	9184	BUB3
HP:0001510	Growth delay	23522	KAT6B
HP:0001510	Growth delay	5130	PCYT1A
HP:0001510	Growth delay	9321	TRIP11
HP:0001510	Growth delay	60528	ELAC2
HP:0001510	Growth delay	9361	LONP1
HP:0001510	Growth delay	7486	WRN
HP:0001510	Growth delay	9652	TTC37
HP:0001510	Growth delay	7681	MKRN3
HP:0001510	Growth delay	54820	NDE1
HP:0001510	Growth delay	9775	EIF4A3
HP:0001510	Growth delay	5723	PSPH
HP:0001510	Growth delay	118429	ANTXR2
HP:0001510	Growth delay	5932	RBBP8
HP:0001510	Growth delay	126792	B3GALT6
HP:0001510	Growth delay	57167	SALL4
HP:0001510	Growth delay	10084	PQBP1
HP:0001510	Growth delay	1908	EDN3
HP:0001510	Growth delay	55180	LINS1
HP:0001510	Growth delay	51128	SAR1B
HP:0001510	Growth delay	79813	EHMT1
HP:0001510	Growth delay	2006	ELN
HP:0001510	Growth delay	51199	NIN
HP:0000824	Growth hormone deficiency	7681	MKRN3
HP:0000824	Growth hormone deficiency	2778	GNAS
HP:0000845	Growth hormone excess	2778	GNAS
HP:0000771	Gynecomastia	6736	SRY
HP:0000738	Hallucinations	7957	EPM2A
HP:0000738	Hallucinations	10518	CIB2
HP:0000738	Hallucinations	410	ARSA
HP:0000738	Hallucinations	124590	USH1G
HP:0001822	Hallux valgus	126792	B3GALT6
HP:0001822	Hallux valgus	6736	SRY
HP:0001822	Hallux valgus	2006	ELN
HP:0001822	Hallux valgus	5932	RBBP8
HP:0001765	Hammertoe	81846	SBF2
HP:0009130	Hand muscle atrophy	80208	SPG11
HP:0001161	Hand polydactyly	57167	SALL4
HP:0001161	Hand polydactyly	1123	CHN1
HP:0001161	Hand polydactyly	1954	MEGF8
HP:0001161	Hand polydactyly	79600	TCTN1
HP:0001161	Hand polydactyly	6899	TBX1
HP:0002315	Headache	5230	PGK1
HP:0002315	Headache	4488	MSX2
HP:0002315	Headache	1181	CLCN2
HP:0000364	Hearing abnormality	8318	CDC45
HP:0000364	Hearing abnormality	2189	FANCG
HP:0000364	Hearing abnormality	57492	ARID1B
HP:0000364	Hearing abnormality	6295	SAG
HP:0000364	Hearing abnormality	2254	FGF9
HP:0000364	Hearing abnormality	84189	SLITRK6
HP:0000364	Hearing abnormality	10518	CIB2
HP:0000364	Hearing abnormality	57697	FANCM
HP:0000364	Hearing abnormality	10617	STAMBP
HP:0000364	Hearing abnormality	10682	EBP
HP:0000364	Hearing abnormality	4607	MYBPC3
HP:0000364	Hearing abnormality	4646	MYO6
HP:0000364	Hearing abnormality	152137	CCDC50
HP:0000364	Hearing abnormality	6736	SRY
HP:0000364	Hearing abnormality	613	BCR
HP:0000364	Hearing abnormality	4729	NDUFV2
HP:0000364	Hearing abnormality	2778	GNAS
HP:0000364	Hearing abnormality	64218	SEMA4A
HP:0000364	Hearing abnormality	2799	GNS
HP:0000364	Hearing abnormality	6899	TBX1
HP:0000364	Hearing abnormality	375611	SLC26A5
HP:0000364	Hearing abnormality	9184	BUB3
HP:0000364	Hearing abnormality	23522	KAT6B
HP:0000364	Hearing abnormality	5130	PCYT1A
HP:0000364	Hearing abnormality	5148	PDE6G
HP:0000364	Hearing abnormality	1123	CHN1
HP:0000364	Hearing abnormality	60528	ELAC2
HP:0000364	Hearing abnormality	9361	LONP1
HP:0000364	Hearing abnormality	124590	USH1G
HP:0000364	Hearing abnormality	57167	SALL4
HP:0000364	Hearing abnormality	10084	PQBP1
HP:0000364	Hearing abnormality	1908	EDN3
HP:0000364	Hearing abnormality	1909	EDNRA
HP:0000364	Hearing abnormality	346007	EYS
HP:0000364	Hearing abnormality	1954	MEGF8
HP:0000364	Hearing abnormality	81846	SBF2
HP:0000364	Hearing abnormality	79813	EHMT1
HP:0000364	Hearing abnormality	2006	ELN
HP:0000365	Hearing impairment	8318	CDC45
HP:0000365	Hearing impairment	2189	FANCG
HP:0000365	Hearing impairment	57492	ARID1B
HP:0000365	Hearing impairment	6295	SAG
HP:0000365	Hearing impairment	2254	FGF9
HP:0000365	Hearing impairment	84189	SLITRK6
HP:0000365	Hearing impairment	10518	CIB2
HP:0000365	Hearing impairment	57697	FANCM
HP:0000365	Hearing impairment	10617	STAMBP
HP:0000365	Hearing impairment	10682	EBP
HP:0000365	Hearing impairment	4607	MYBPC3
HP:0000365	Hearing impairment	4646	MYO6
HP:0000365	Hearing impairment	152137	CCDC50
HP:0000365	Hearing impairment	6736	SRY
HP:0000365	Hearing impairment	613	BCR
HP:0000365	Hearing impairment	4729	NDUFV2
HP:0000365	Hearing impairment	2778	GNAS
HP:0000365	Hearing impairment	64218	SEMA4A
HP:0000365	Hearing impairment	2799	GNS
HP:0000365	Hearing impairment	6899	TBX1
HP:0000365	Hearing impairment	375611	SLC26A5
HP:0000365	Hearing impairment	9184	BUB3
HP:0000365	Hearing impairment	23522	KAT6B
HP:0000365	Hearing impairment	5130	PCYT1A
HP:0000365	Hearing impairment	5148	PDE6G
HP:0000365	Hearing impairment	1123	CHN1
HP:0000365	Hearing impairment	60528	ELAC2
HP:0000365	Hearing impairment	9361	LONP1
HP:0000365	Hearing impairment	124590	USH1G
HP:0000365	Hearing impairment	57167	SALL4
HP:0000365	Hearing impairment	10084	PQBP1
HP:0000365	Hearing impairment	1908	EDN3
HP:0000365	Hearing impairment	1909	EDNRA
HP:0000365	Hearing impairment	346007	EYS
HP:0000365	Hearing impairment	1954	MEGF8
HP:0000365	Hearing impairment	81846	SBF2
HP:0000365	Hearing impairment	79813	EHMT1
HP:0000365	Hearing impairment	2006	ELN
HP:0012722	Heart block	781	CACNA2D1
HP:0030148	Heart murmur	5932	RBBP8
HP:0030148	Heart murmur	3949	LDLR
HP:0030148	Heart murmur	4091	SMAD6
HP:0001028	Hemangioma	57492	ARID1B
HP:0002573	Hematochezia	3257	HPS1
HP:0004377	Hematological neoplasm	5156	PDGFRA
HP:0004377	Hematological neoplasm	811	CALR
HP:0004377	Hematological neoplasm	57697	FANCM
HP:0004377	Hematological neoplasm	613	BCR
HP:0004377	Hematological neoplasm	79719	AAGAB
HP:0004377	Hematological neoplasm	1130	LYST
HP:0004377	Hematological neoplasm	10892	MALT1
HP:0004377	Hematological neoplasm	2189	FANCG
HP:0004377	Hematological neoplasm	9184	BUB3
HP:0004377	Hematological neoplasm	3561	IL2RG
HP:0000790	Hematuria	84189	SLITRK6
HP:0012047	Hemeralopia	6295	SAG
HP:0012377	Hemianopia	10518	CIB2
HP:0012377	Hemianopia	124590	USH1G
HP:0100556	Hemiatrophy	10682	EBP
HP:0004374	Hemiplegia/hemiparesis	5130	PCYT1A
HP:0004374	Hemiplegia/hemiparesis	25939	SAMHD1
HP:0004374	Hemiplegia/hemiparesis	4594	MUT
HP:0002937	Hemivertebrae	10682	EBP
HP:0001878	Hemolytic anemia	7128	TNFAIP3
HP:0001878	Hemolytic anemia	5230	PGK1
HP:0002105	Hemoptysis	2006	ELN
HP:0002159	Heparan sulfate excretion in urine	2799	GNS
HP:0001399	Hepatic failure	7957	EPM2A
HP:0001399	Hepatic failure	4729	NDUFV2
HP:0001399	Hepatic failure	80270	HSD3B7
HP:0001399	Hepatic failure	9652	TTC37
HP:0001399	Hepatic failure	23534	TNPO3
HP:0001395	Hepatic fibrosis	9652	TTC37
HP:0001395	Hepatic fibrosis	23534	TNPO3
HP:0001397	Hepatic steatosis	5506	PPP1R3A
HP:0001397	Hepatic steatosis	51128	SAR1B
HP:0001397	Hepatic steatosis	56922	MCCC1
HP:0001397	Hepatic steatosis	3949	LDLR
HP:0012115	Hepatitis	80270	HSD3B7
HP:0012115	Hepatitis	4261	CIITA
HP:0012115	Hepatitis	56262	LRRC8A
HP:0012115	Hepatitis	23534	TNPO3
HP:0001402	Hepatocellular carcinoma	23534	TNPO3
HP:0002240	Hepatomegaly	5156	PDGFRA
HP:0002240	Hepatomegaly	1130	LYST
HP:0002240	Hepatomegaly	55532	SLC30A10
HP:0002240	Hepatomegaly	80270	HSD3B7
HP:0002240	Hepatomegaly	6575	SLC20A2
HP:0002240	Hepatomegaly	9652	TTC37
HP:0002240	Hepatomegaly	445	ASS1
HP:0002240	Hepatomegaly	51660	MPC1
HP:0002240	Hepatomegaly	3561	IL2RG
HP:0002240	Hepatomegaly	4594	MUT
HP:0002240	Hepatomegaly	1536	CYBB
HP:0002240	Hepatomegaly	2799	GNS
HP:0002240	Hepatomegaly	83737	ITCH
HP:0002240	Hepatomegaly	23522	KAT6B
HP:0001433	Hepatosplenomegaly	4023	LPL
HP:0100790	Hernia	613	BCR
HP:0100790	Hernia	9321	TRIP11
HP:0100790	Hernia	2189	FANCG
HP:0100790	Hernia	9361	LONP1
HP:0100790	Hernia	57492	ARID1B
HP:0100790	Hernia	6899	TBX1
HP:0100790	Hernia	10516	FBLN5
HP:0100790	Hernia	57697	FANCM
HP:0100790	Hernia	1954	MEGF8
HP:0100790	Hernia	79813	EHMT1
HP:0100790	Hernia	2006	ELN
HP:0004299	Hernia of the abdominal wall	613	BCR
HP:0004299	Hernia of the abdominal wall	9321	TRIP11
HP:0004299	Hernia of the abdominal wall	2189	FANCG
HP:0004299	Hernia of the abdominal wall	9361	LONP1
HP:0004299	Hernia of the abdominal wall	57492	ARID1B
HP:0004299	Hernia of the abdominal wall	6899	TBX1
HP:0004299	Hernia of the abdominal wall	10516	FBLN5
HP:0004299	Hernia of the abdominal wall	57697	FANCM
HP:0004299	Hernia of the abdominal wall	1954	MEGF8
HP:0004299	Hernia of the abdominal wall	79813	EHMT1
HP:0004299	Hernia of the abdominal wall	2006	ELN
HP:0001100	Heterochromia iridis	1123	CHN1
HP:0001100	Heterochromia iridis	1908	EDN3
HP:0001425	Heterogeneous	7251	TSG101
HP:0001425	Heterogeneous	56922	MCCC1
HP:0001425	Heterogeneous	78987	CRELD1
HP:0001425	Heterogeneous	3257	HPS1
HP:0001425	Heterogeneous	9992	KCNE2
HP:0001425	Heterogeneous	10516	FBLN5
HP:0001425	Heterogeneous	7957	EPM2A
HP:0001425	Heterogeneous	6496	SIX3
HP:0001425	Heterogeneous	79719	AAGAB
HP:0001425	Heterogeneous	1908	EDN3
HP:0001425	Heterogeneous	4488	MSX2
HP:0001425	Heterogeneous	81846	SBF2
HP:0001425	Heterogeneous	2006	ELN
HP:0002282	Heterotopia	23522	KAT6B
HP:0000348	High forehead	2006	ELN
HP:0000348	High forehead	9184	BUB3
HP:0000348	High forehead	23522	KAT6B
HP:0000348	High forehead	6899	TBX1
HP:0008499	High hypermetropia	5130	PCYT1A
HP:0008499	High hypermetropia	2006	ELN
HP:0008499	High hypermetropia	10518	CIB2
HP:0008499	High hypermetropia	124590	USH1G
HP:0008499	High hypermetropia	112752	IFT43
HP:0011003	High myopia	6295	SAG
HP:0011003	High myopia	84189	SLITRK6
HP:0000218	High palate	8318	CDC45
HP:0000218	High palate	2189	FANCG
HP:0000218	High palate	57492	ARID1B
HP:0000218	High palate	57697	FANCM
HP:0000218	High palate	7546	ZIC2
HP:0000218	High palate	10682	EBP
HP:0000218	High palate	9775	EIF4A3
HP:0000218	High palate	6736	SRY
HP:0000218	High palate	613	BCR
HP:0000218	High palate	6899	TBX1
HP:0000218	High palate	126792	B3GALT6
HP:0000218	High palate	10084	PQBP1
HP:0000218	High palate	283489	CHAMP1
HP:0000218	High palate	1954	MEGF8
HP:0000218	High palate	56262	LRRC8A
HP:0000218	High palate	2006	ELN
HP:0000218	High palate	23522	KAT6B
HP:0001620	High pitched voice	5932	RBBP8
HP:0002705	High, narrow palate	57492	ARID1B
HP:0002705	High, narrow palate	2006	ELN
HP:0002705	High, narrow palate	613	BCR
HP:0002705	High, narrow palate	6899	TBX1
HP:0002705	High, narrow palate	8318	CDC45
HP:0002553	Highly arched eyebrow	613	BCR
HP:0002553	Highly arched eyebrow	57492	ARID1B
HP:0002553	Highly arched eyebrow	1954	MEGF8
HP:0002553	Highly arched eyebrow	79813	EHMT1
HP:0002553	Highly arched eyebrow	79600	TCTN1
HP:0030234	Highly elevated creatine phosphokinase	3908	LAMA2
HP:0003273	Hip contracture	23522	KAT6B
HP:0002827	Hip dislocation	9775	EIF4A3
HP:0002827	Hip dislocation	126792	B3GALT6
HP:0002827	Hip dislocation	57697	FANCM
HP:0002827	Hip dislocation	2189	FANCG
HP:0002827	Hip dislocation	9361	LONP1
HP:0002827	Hip dislocation	23522	KAT6B
HP:0001385	Hip dysplasia	7681	MKRN3
HP:0001385	Hip dysplasia	5932	RBBP8
HP:0001385	Hip dysplasia	10682	EBP
HP:0001385	Hip dysplasia	51199	NIN
HP:0030043	Hip subluxation	126792	B3GALT6
HP:0030043	Hip subluxation	9775	EIF4A3
HP:0001007	Hirsutism	5506	PPP1R3A
HP:0001007	Hirsutism	57492	ARID1B
HP:0001007	Hirsutism	2778	GNAS
HP:0001007	Hirsutism	2799	GNS
HP:0001609	Hoarse voice	2006	ELN
HP:0012189	Hodgkin lymphoma	79719	AAGAB
HP:0001360	Holoprosencephaly	9184	BUB3
HP:0001360	Holoprosencephaly	6496	SIX3
HP:0001360	Holoprosencephaly	7546	ZIC2
HP:0011228	Horizontal eyebrow	83696	TRAPPC9
HP:0000666	Horizontal nystagmus	8913	CACNA1G
HP:0000085	Horseshoe kidney	57167	SALL4
HP:0000085	Horseshoe kidney	6736	SRY
HP:0003041	Humeroradial synostosis	2254	FGF9
HP:0002324	Hydranencephaly	54820	NDE1
HP:0000238	Hydrocephalus	1605	DAG1
HP:0000238	Hydrocephalus	2683	B4GALT1
HP:0000238	Hydrocephalus	2189	FANCG
HP:0000238	Hydrocephalus	79600	TCTN1
HP:0000238	Hydrocephalus	6899	TBX1
HP:0000238	Hydrocephalus	57697	FANCM
HP:0000238	Hydrocephalus	7546	ZIC2
HP:0000238	Hydrocephalus	10682	EBP
HP:0000126	Hydronephrosis	64321	SOX17
HP:0000126	Hydronephrosis	57167	SALL4
HP:0000126	Hydronephrosis	57492	ARID1B
HP:0000126	Hydronephrosis	10682	EBP
HP:0000126	Hydronephrosis	23522	KAT6B
HP:0000126	Hydronephrosis	6899	TBX1
HP:0001789	Hydrops fetalis	9321	TRIP11
HP:0000072	Hydroureter	2189	FANCG
HP:0000072	Hydroureter	9361	LONP1
HP:0000072	Hydroureter	64321	SOX17
HP:0000072	Hydroureter	57697	FANCM
HP:0000072	Hydroureter	1909	EDNRA
HP:0000752	Hyperactivity	7681	MKRN3
HP:0000752	Hyperactivity	6660	SOX5
HP:0000752	Hyperactivity	613	BCR
HP:0000752	Hyperactivity	2799	GNS
HP:0000752	Hyperactivity	83696	TRAPPC9
HP:0000752	Hyperactivity	6899	TBX1
HP:0000752	Hyperactivity	288	ANK3
HP:0000752	Hyperactivity	23394	ADNP
HP:0000752	Hyperactivity	10682	EBP
HP:0000752	Hyperactivity	2006	ELN
HP:0010780	Hyperacusis	2006	ELN
HP:0001987	Hyperammonemia	56922	MCCC1
HP:0001987	Hyperammonemia	4594	MUT
HP:0001987	Hyperammonemia	445	ASS1
HP:0002904	Hyperbilirubinemia	80270	HSD3B7
HP:0002904	Hyperbilirubinemia	10599	SLCO1B1
HP:0002904	Hyperbilirubinemia	23534	TNPO3
HP:0003072	Hypercalcemia	2006	ELN
HP:0002150	Hypercalciuria	2006	ELN
HP:0011423	Hyperchloremia	8452	CUL3
HP:0001995	Hyperchloremic acidosis	8452	CUL3
HP:0004918	Hyperchloremic metabolic acidosis	8452	CUL3
HP:0003124	Hypercholesterolemia	3949	LDLR
HP:0003124	Hypercholesterolemia	4023	LPL
HP:0000974	Hyperextensible skin	10516	FBLN5
HP:0000974	Hyperextensible skin	126792	B3GALT6
HP:0003217	Hyperglutaminemia	445	ASS1
HP:0003074	Hyperglycemia	5506	PPP1R3A
HP:0002154	Hyperglycinemia	4594	MUT
HP:0000815	Hypergonadotropic hypogonadism	9150	CTDP1
HP:0000815	Hypergonadotropic hypogonadism	6736	SRY
HP:0000815	Hypergonadotropic hypogonadism	2778	GNAS
HP:0000975	Hyperhidrosis	1908	EDN3
HP:0000975	Hyperhidrosis	10892	MALT1
HP:0000842	Hyperinsulinemia	7681	MKRN3
HP:0000842	Hyperinsulinemia	5148	PDE6G
HP:0000842	Hyperinsulinemia	5506	PPP1R3A
HP:0000842	Hyperinsulinemia	346007	EYS
HP:0000842	Hyperinsulinemia	6295	SAG
HP:0000842	Hyperinsulinemia	64218	SEMA4A
HP:0002153	Hyperkalemia	8452	CUL3
HP:0000962	Hyperkeratosis	57609	DIP2B
HP:0000962	Hyperkeratosis	9526	MPDU1
HP:0000962	Hyperkeratosis	7486	WRN
HP:0000962	Hyperkeratosis	79719	AAGAB
HP:0000962	Hyperkeratosis	4607	MYBPC3
HP:0003077	Hyperlipidemia	5506	PPP1R3A
HP:0003077	Hyperlipidemia	4023	LPL
HP:0003077	Hyperlipidemia	3949	LDLR
HP:0010980	Hyperlipoproteinemia	3949	LDLR
HP:0010980	Hyperlipoproteinemia	4023	LPL
HP:0003307	Hyperlordosis	6660	SOX5
HP:0003307	Hyperlordosis	5130	PCYT1A
HP:0003307	Hyperlordosis	3908	LAMA2
HP:0003307	Hyperlordosis	1605	DAG1
HP:0003307	Hyperlordosis	1861	TOR1A
HP:0003307	Hyperlordosis	126792	B3GALT6
HP:0003307	Hyperlordosis	613	BCR
HP:0003307	Hyperlordosis	2006	ELN
HP:0001034	Hypermelanotic macule	1536	CYBB
HP:0001034	Hypermelanotic macule	2778	GNAS
HP:0003235	Hypermethioninemia	9652	TTC37
HP:0000540	Hypermetropia	7681	MKRN3
HP:0000540	Hypermetropia	5130	PCYT1A
HP:0000540	Hypermetropia	10518	CIB2
HP:0000540	Hypermetropia	23394	ADNP
HP:0000540	Hypermetropia	10084	PQBP1
HP:0000540	Hypermetropia	283489	CHAMP1
HP:0000540	Hypermetropia	112752	IFT43
HP:0000540	Hypermetropia	4488	MSX2
HP:0000540	Hypermetropia	124590	USH1G
HP:0000540	Hypermetropia	2006	ELN
HP:0000540	Hypermetropia	5119	CHMP1A
HP:0100774	Hyperostosis	2778	GNAS
HP:0004438	Hyperostosis frontalis interna	2778	GNAS
HP:0000843	Hyperparathyroidism	2778	GNAS
HP:0002905	Hyperphosphatemia	2778	GNAS
HP:0005586	Hyperpigmentation in sun-exposed areas	3257	HPS1
HP:0000953	Hyperpigmentation of the skin	1536	CYBB
HP:0000953	Hyperpigmentation of the skin	5156	PDGFRA
HP:0000953	Hyperpigmentation of the skin	57697	FANCM
HP:0000953	Hyperpigmentation of the skin	1123	CHN1
HP:0000953	Hyperpigmentation of the skin	1130	LYST
HP:0000953	Hyperpigmentation of the skin	2189	FANCG
HP:0000953	Hyperpigmentation of the skin	118429	ANTXR2
HP:0000953	Hyperpigmentation of the skin	56246	MRAP
HP:0000953	Hyperpigmentation of the skin	3257	HPS1
HP:0000953	Hyperpigmentation of the skin	2778	GNAS
HP:0000953	Hyperpigmentation of the skin	23534	TNPO3
HP:0010514	Hyperpituitarism	6736	SRY
HP:0010514	Hyperpituitarism	2778	GNAS
HP:0430028	Hyperplasia of the maxilla	6660	SOX5
HP:0001347	Hyperreflexia	5148	PDE6G
HP:0001347	Hyperreflexia	10300	KATNB1
HP:0001347	Hyperreflexia	2189	FANCG
HP:0001347	Hyperreflexia	6295	SAG
HP:0001347	Hyperreflexia	7443	VRK1
HP:0001347	Hyperreflexia	80208	SPG11
HP:0001347	Hyperreflexia	57697	FANCM
HP:0001347	Hyperreflexia	410	ARSA
HP:0001347	Hyperreflexia	6575	SLC20A2
HP:0001347	Hyperreflexia	6687	SPG7
HP:0001347	Hyperreflexia	54820	NDE1
HP:0001347	Hyperreflexia	56922	MCCC1
HP:0001347	Hyperreflexia	4729	NDUFV2
HP:0001347	Hyperreflexia	8913	CACNA1G
HP:0001347	Hyperreflexia	3798	KIF5A
HP:0001347	Hyperreflexia	64218	SEMA4A
HP:0001347	Hyperreflexia	10084	PQBP1
HP:0001347	Hyperreflexia	55180	LINS1
HP:0001347	Hyperreflexia	346007	EYS
HP:0001347	Hyperreflexia	2006	ELN
HP:0001347	Hyperreflexia	5119	CHMP1A
HP:0004821	Hypersegmentation of neutrophil nuclei	10841	FTCD
HP:0000316	Hypertelorism	2189	FANCG
HP:0000316	Hypertelorism	57492	ARID1B
HP:0000316	Hypertelorism	10516	FBLN5
HP:0000316	Hypertelorism	8516	ITGA8
HP:0000316	Hypertelorism	57697	FANCM
HP:0000316	Hypertelorism	10617	STAMBP
HP:0000316	Hypertelorism	7546	ZIC2
HP:0000316	Hypertelorism	9652	TTC37
HP:0000316	Hypertelorism	83696	TRAPPC9
HP:0000316	Hypertelorism	6899	TBX1
HP:0000316	Hypertelorism	57167	SALL4
HP:0000316	Hypertelorism	1954	MEGF8
HP:0000316	Hypertelorism	79813	EHMT1
HP:0000316	Hypertelorism	56262	LRRC8A
HP:0000316	Hypertelorism	2006	ELN
HP:0000316	Hypertelorism	23522	KAT6B
HP:0000822	Hypertension	5740	PTGIS
HP:0000822	Hypertension	2778	GNAS
HP:0000822	Hypertension	6899	TBX1
HP:0000822	Hypertension	8452	CUL3
HP:0000822	Hypertension	811	CALR
HP:0000822	Hypertension	7486	WRN
HP:0000822	Hypertension	8516	ITGA8
HP:0000822	Hypertension	3949	LDLR
HP:0000822	Hypertension	5506	PPP1R3A
HP:0000822	Hypertension	2006	ELN
HP:0000822	Hypertension	23534	TNPO3
HP:0000822	Hypertension	4091	SMAD6
HP:0100735	Hypertensive crisis	6899	TBX1
HP:0000836	Hyperthyroidism	2778	GNAS
HP:0000836	Hyperthyroidism	6899	TBX1
HP:0001276	Hypertonia	10300	KATNB1
HP:0001276	Hypertonia	1130	LYST
HP:0001276	Hypertonia	55532	SLC30A10
HP:0001276	Hypertonia	4361	MRE11
HP:0001276	Hypertonia	288	ANK3
HP:0001276	Hypertonia	9526	MPDU1
HP:0001276	Hypertonia	80208	SPG11
HP:0001276	Hypertonia	25939	SAMHD1
HP:0001276	Hypertonia	10617	STAMBP
HP:0001276	Hypertonia	6531	SLC6A3
HP:0001276	Hypertonia	410	ARSA
HP:0001276	Hypertonia	6687	SPG7
HP:0001276	Hypertonia	54820	NDE1
HP:0001276	Hypertonia	56922	MCCC1
HP:0001276	Hypertonia	5723	PSPH
HP:0001276	Hypertonia	4729	NDUFV2
HP:0001276	Hypertonia	8913	CACNA1G
HP:0001276	Hypertonia	3798	KIF5A
HP:0001276	Hypertonia	1861	TOR1A
HP:0001276	Hypertonia	10084	PQBP1
HP:0001276	Hypertonia	2006	ELN
HP:0001276	Hypertonia	5119	CHMP1A
HP:0000998	Hypertrichosis	1908	EDN3
HP:0000998	Hypertrichosis	7546	ZIC2
HP:0000998	Hypertrichosis	57492	ARID1B
HP:0000998	Hypertrichosis	79813	EHMT1
HP:0000998	Hypertrichosis	2799	GNS
HP:0000998	Hypertrichosis	83696	TRAPPC9
HP:0000998	Hypertrichosis	5119	CHMP1A
HP:0002155	Hypertriglyceridemia	5506	PPP1R3A
HP:0002155	Hypertriglyceridemia	4023	LPL
HP:0001639	Hypertrophic cardiomyopathy	9997	SCO2
HP:0001639	Hypertrophic cardiomyopathy	57697	FANCM
HP:0001639	Hypertrophic cardiomyopathy	60528	ELAC2
HP:0001639	Hypertrophic cardiomyopathy	4729	NDUFV2
HP:0001639	Hypertrophic cardiomyopathy	23417	MLYCD
HP:0001639	Hypertrophic cardiomyopathy	2189	FANCG
HP:0001639	Hypertrophic cardiomyopathy	2006	ELN
HP:0001639	Hypertrophic cardiomyopathy	2799	GNS
HP:0001639	Hypertrophic cardiomyopathy	4607	MYBPC3
HP:0003231	Hypertyrosinemia	3242	HPD
HP:0002149	Hyperuricemia	5506	PPP1R3A
HP:0003073	Hypoalbuminemia	23534	TNPO3
HP:0003073	Hypoalbuminemia	9652	TTC37
HP:0003073	Hypoalbuminemia	51128	SAR1B
HP:0005961	Hypoargininemia	445	ASS1
HP:0002901	Hypocalcemia	2778	GNAS
HP:0002901	Hypocalcemia	6899	TBX1
HP:0002199	Hypocalcemic seizures	2778	GNAS
HP:0003472	Hypocalcemic tetany	2778	GNAS
HP:0003146	Hypocholesterolemia	51128	SAR1B
HP:0003146	Hypocholesterolemia	80270	HSD3B7
HP:0001931	Hypochromic anemia	7018	TF
HP:0000668	Hypodontia	112752	IFT43
HP:0000668	Hypodontia	2006	ELN
HP:0001943	Hypoglycemia	8516	ITGA8
HP:0001943	Hypoglycemia	56922	MCCC1
HP:0001943	Hypoglycemia	4729	NDUFV2
HP:0001943	Hypoglycemia	23417	MLYCD
HP:0001943	Hypoglycemia	56246	MRAP
HP:0001943	Hypoglycemia	9150	CTDP1
HP:0001943	Hypoglycemia	51660	MPC1
HP:0000135	Hypogonadism	7681	MKRN3
HP:0000135	Hypogonadism	5148	PDE6G
HP:0000135	Hypogonadism	6736	SRY
HP:0000135	Hypogonadism	2189	FANCG
HP:0000135	Hypogonadism	6295	SAG
HP:0000135	Hypogonadism	2778	GNAS
HP:0000135	Hypogonadism	64218	SEMA4A
HP:0000135	Hypogonadism	7486	WRN
HP:0000135	Hypogonadism	57697	FANCM
HP:0000135	Hypogonadism	346007	EYS
HP:0000135	Hypogonadism	9150	CTDP1
HP:0000135	Hypogonadism	2006	ELN
HP:0000135	Hypogonadism	23522	KAT6B
HP:0000044	Hypogonadotrophic hypogonadism	7681	MKRN3
HP:0000044	Hypogonadotrophic hypogonadism	6736	SRY
HP:0000044	Hypogonadotrophic hypogonadism	9150	CTDP1
HP:0000044	Hypogonadotrophic hypogonadism	2006	ELN
HP:0000044	Hypogonadotrophic hypogonadism	23522	KAT6B
HP:0007550	Hypohidrosis or hyperhidrosis	1908	EDN3
HP:0007550	Hypohidrosis or hyperhidrosis	10892	MALT1
HP:0007103	Hypointensity of cerebral white matter on MRI	25939	SAMHD1
HP:0007103	Hypointensity of cerebral white matter on MRI	3908	LAMA2
HP:0002375	Hypokinesia	3908	LAMA2
HP:0010981	Hypolipoproteinemia	5506	PPP1R3A
HP:0010981	Hypolipoproteinemia	51128	SAR1B
HP:0000571	Hypometric saccades	4361	MRE11
HP:0000829	Hypoparathyroidism	6899	TBX1
HP:0002148	Hypophosphatemia	2778	GNAS
HP:0005599	Hypopigmentation of hair	7681	MKRN3
HP:0005599	Hypopigmentation of hair	3257	HPS1
HP:0005599	Hypopigmentation of hair	7486	WRN
HP:0005599	Hypopigmentation of hair	1123	CHN1
HP:0005599	Hypopigmentation of hair	1130	LYST
HP:0005599	Hypopigmentation of hair	1908	EDN3
HP:0001010	Hypopigmentation of the skin	7681	MKRN3
HP:0001010	Hypopigmentation of the skin	57697	FANCM
HP:0001010	Hypopigmentation of the skin	1123	CHN1
HP:0001010	Hypopigmentation of the skin	1130	LYST
HP:0001010	Hypopigmentation of the skin	1908	EDN3
HP:0001010	Hypopigmentation of the skin	2189	FANCG
HP:0001010	Hypopigmentation of the skin	3257	HPS1
HP:0001010	Hypopigmentation of the skin	6899	TBX1
HP:0001053	Hypopigmented skin patches	57697	FANCM
HP:0001053	Hypopigmented skin patches	1123	CHN1
HP:0001053	Hypopigmented skin patches	1908	EDN3
HP:0001053	Hypopigmented skin patches	2189	FANCG
HP:0001053	Hypopigmented skin patches	6899	TBX1
HP:0040075	Hypopituitarism	7681	MKRN3
HP:0040075	Hypopituitarism	2778	GNAS
HP:0030241	Hypoplasia of deltoid muscle	57167	SALL4
HP:0006297	Hypoplasia of dental enamel	9361	LONP1
HP:0006297	Hypoplasia of dental enamel	2778	GNAS
HP:0008736	Hypoplasia of penis	7681	MKRN3
HP:0008736	Hypoplasia of penis	5148	PDE6G
HP:0008736	Hypoplasia of penis	1605	DAG1
HP:0008736	Hypoplasia of penis	6736	SRY
HP:0008736	Hypoplasia of penis	8318	CDC45
HP:0008736	Hypoplasia of penis	6295	SAG
HP:0008736	Hypoplasia of penis	64218	SEMA4A
HP:0008736	Hypoplasia of penis	346007	EYS
HP:0008736	Hypoplasia of penis	1954	MEGF8
HP:0008736	Hypoplasia of penis	79813	EHMT1
HP:0008736	Hypoplasia of penis	2006	ELN
HP:0008736	Hypoplasia of penis	23522	KAT6B
HP:0000685	Hypoplasia of teeth	9361	LONP1
HP:0000685	Hypoplasia of teeth	2778	GNAS
HP:0000685	Hypoplasia of teeth	112752	IFT43
HP:0002365	Hypoplasia of the brainstem	54820	NDE1
HP:0002365	Hypoplasia of the brainstem	5119	CHMP1A
HP:0002079	Hypoplasia of the corpus callosum	10300	KATNB1
HP:0002079	Hypoplasia of the corpus callosum	1605	DAG1
HP:0002079	Hypoplasia of the corpus callosum	9361	LONP1
HP:0002079	Hypoplasia of the corpus callosum	57492	ARID1B
HP:0002079	Hypoplasia of the corpus callosum	83696	TRAPPC9
HP:0002079	Hypoplasia of the corpus callosum	80208	SPG11
HP:0002079	Hypoplasia of the corpus callosum	10617	STAMBP
HP:0002079	Hypoplasia of the corpus callosum	5119	CHMP1A
HP:0007676	Hypoplasia of the iris	1123	CHN1
HP:0000327	Hypoplasia of the maxilla	7341	SUMO1
HP:0000327	Hypoplasia of the maxilla	1909	EDNRA
HP:0000327	Hypoplasia of the maxilla	10617	STAMBP
HP:0000327	Hypoplasia of the maxilla	8318	CDC45
HP:0009004	Hypoplasia of the musculature	57167	SALL4
HP:0004646	Hypoplasia of the nasal bone	124590	USH1G
HP:0003311	Hypoplasia of the odontoid process	9361	LONP1
HP:0008724	Hypoplasia of the ovary	6736	SRY
HP:0010746	Hypoplasia of the phalanges of the toes	57492	ARID1B
HP:0012110	Hypoplasia of the pons	7443	VRK1
HP:0002984	Hypoplasia of the radius	57167	SALL4
HP:0002984	Hypoplasia of the radius	1123	CHN1
HP:0002984	Hypoplasia of the radius	9321	TRIP11
HP:0002984	Hypoplasia of the radius	9775	EIF4A3
HP:0000778	Hypoplasia of the thymus	3561	IL2RG
HP:0000778	Hypoplasia of the thymus	6899	TBX1
HP:0003022	Hypoplasia of the ulna	2189	FANCG
HP:0003022	Hypoplasia of the ulna	57167	SALL4
HP:0003022	Hypoplasia of the ulna	57697	FANCM
HP:0000013	Hypoplasia of the uterus	51199	NIN
HP:0008726	Hypoplasia of the vagina	6736	SRY
HP:0006850	Hypoplasia of the ventral pons	7443	VRK1
HP:0010669	Hypoplasia of the zygomatic bone	2006	ELN
HP:0002692	Hypoplastic facial bones	2006	ELN
HP:0012815	Hypoplastic female external genitalia	7681	MKRN3
HP:0012815	Hypoplastic female external genitalia	8318	CDC45
HP:0008398	Hypoplastic fifth fingernail	57492	ARID1B
HP:0011937	Hypoplastic fifth toenail	57492	ARID1B
HP:0001804	Hypoplastic fingernail	57492	ARID1B
HP:0001961	Hypoplastic heart	1837	DTNA
HP:0001961	Hypoplastic heart	6899	TBX1
HP:0001961	Hypoplastic heart	4091	SMAD6
HP:0000946	Hypoplastic ilia	126792	B3GALT6
HP:0000946	Hypoplastic ilia	5130	PCYT1A
HP:0000946	Hypoplastic ilia	23522	KAT6B
HP:0008824	Hypoplastic iliac body	126792	B3GALT6
HP:0008821	Hypoplastic inferior ilia	5130	PCYT1A
HP:0008823	Hypoplastic inferior pubic rami	23522	KAT6B
HP:0007990	Hypoplastic iris stroma	1123	CHN1
HP:0003175	Hypoplastic ischia	23522	KAT6B
HP:0003175	Hypoplastic ischia	9321	TRIP11
HP:0000059	Hypoplastic labia majora	8318	CDC45
HP:0000064	Hypoplastic labia minora	7681	MKRN3
HP:0000064	Hypoplastic labia minora	8318	CDC45
HP:0004383	Hypoplastic left heart	1837	DTNA
HP:0004383	Hypoplastic left heart	6899	TBX1
HP:0004383	Hypoplastic left heart	4091	SMAD6
HP:0000050	Hypoplastic male external genitalia	5148	PDE6G
HP:0000050	Hypoplastic male external genitalia	8287	USP9Y
HP:0000050	Hypoplastic male external genitalia	8318	CDC45
HP:0000050	Hypoplastic male external genitalia	6295	SAG
HP:0000050	Hypoplastic male external genitalia	7681	MKRN3
HP:0000050	Hypoplastic male external genitalia	1605	DAG1
HP:0000050	Hypoplastic male external genitalia	6736	SRY
HP:0000050	Hypoplastic male external genitalia	64218	SEMA4A
HP:0000050	Hypoplastic male external genitalia	10084	PQBP1
HP:0000050	Hypoplastic male external genitalia	346007	EYS
HP:0000050	Hypoplastic male external genitalia	1954	MEGF8
HP:0000050	Hypoplastic male external genitalia	9150	CTDP1
HP:0000050	Hypoplastic male external genitalia	79813	EHMT1
HP:0000050	Hypoplastic male external genitalia	2006	ELN
HP:0000050	Hypoplastic male external genitalia	23522	KAT6B
HP:0002557	Hypoplastic nipples	1954	MEGF8
HP:0003173	Hypoplastic pubic bone	23522	KAT6B
HP:0000882	Hypoplastic scapulae	9321	TRIP11
HP:0001800	Hypoplastic toenails	57492	ARID1B
HP:0001800	Hypoplastic toenails	2006	ELN
HP:0001265	Hyporeflexia	1605	DAG1
HP:0001265	Hyporeflexia	1130	LYST
HP:0001265	Hyporeflexia	4729	NDUFV2
HP:0001265	Hyporeflexia	2778	GNAS
HP:0001265	Hyporeflexia	4361	MRE11
HP:0001265	Hyporeflexia	10516	FBLN5
HP:0001265	Hyporeflexia	410	ARSA
HP:0001265	Hyporeflexia	81846	SBF2
HP:0002600	Hyporeflexia of lower limbs	10516	FBLN5
HP:0000047	Hypospadias	6736	SRY
HP:0000047	Hypospadias	8318	CDC45
HP:0000047	Hypospadias	2189	FANCG
HP:0000047	Hypospadias	57492	ARID1B
HP:0000047	Hypospadias	6899	TBX1
HP:0000047	Hypospadias	5932	RBBP8
HP:0000047	Hypospadias	57697	FANCM
HP:0000047	Hypospadias	10084	PQBP1
HP:0000047	Hypospadias	79813	EHMT1
HP:0000601	Hypotelorism	4488	MSX2
HP:0000601	Hypotelorism	57492	ARID1B
HP:0000601	Hypotelorism	2006	ELN
HP:0000601	Hypotelorism	6496	SIX3
HP:0000601	Hypotelorism	83696	TRAPPC9
HP:0000601	Hypotelorism	112752	IFT43
HP:0000601	Hypotelorism	7546	ZIC2
HP:0000601	Hypotelorism	51199	NIN
HP:0002615	Hypotension	23534	TNPO3
HP:0000821	Hypothyroidism	10516	FBLN5
HP:0000821	Hypothyroidism	6736	SRY
HP:0000821	Hypothyroidism	7018	TF
HP:0000821	Hypothyroidism	3242	HPD
HP:0000821	Hypothyroidism	2006	ELN
HP:0000821	Hypothyroidism	2778	GNAS
HP:0000821	Hypothyroidism	9184	BUB3
HP:0000821	Hypothyroidism	23522	KAT6B
HP:0000821	Hypothyroidism	3561	IL2RG
HP:0000821	Hypothyroidism	83696	TRAPPC9
HP:0000821	Hypothyroidism	6899	TBX1
HP:0000821	Hypothyroidism	51199	NIN
HP:0001006	Hypotrichosis	57492	ARID1B
HP:0001006	Hypotrichosis	6768	ST14
HP:0002791	Hypoventilation	7681	MKRN3
HP:0002791	Hypoventilation	3908	LAMA2
HP:0002791	Hypoventilation	1908	EDN3
HP:0011106	Hypovolemia	2006	ELN
HP:0011106	Hypovolemia	4645	MYO5B
HP:0002521	Hypsarrhythmia	1917	EEF1A2
HP:0008064	Ichthyosis	6768	ST14
HP:0008064	Ichthyosis	10682	EBP
HP:0004315	IgG deficiency	3561	IL2RG
HP:0002595	Ileus	10516	FBLN5
HP:0002721	Immunodeficiency	3394	IRF8
HP:0002721	Immunodeficiency	613	BCR
HP:0002721	Immunodeficiency	1130	LYST
HP:0002721	Immunodeficiency	3460	IFNGR2
HP:0002721	Immunodeficiency	10892	MALT1
HP:0002721	Immunodeficiency	118429	ANTXR2
HP:0002721	Immunodeficiency	56262	LRRC8A
HP:0002721	Immunodeficiency	3561	IL2RG
HP:0002721	Immunodeficiency	4594	MUT
HP:0002721	Immunodeficiency	6899	TBX1
HP:0100326	Immunologic hypersensitivity	2006	ELN
HP:0100326	Immunologic hypersensitivity	23534	TNPO3
HP:0100326	Immunologic hypersensitivity	6899	TBX1
HP:0005435	Impaired T cell function	6899	TBX1
HP:0031064	Impaired continence	410	ARSA
HP:0031064	Impaired continence	6687	SPG7
HP:0031064	Impaired continence	6305	SBF1
HP:0031064	Impaired continence	6575	SLC20A2
HP:0031064	Impaired continence	8913	CACNA1G
HP:0031064	Impaired continence	80208	SPG11
HP:0031064	Impaired continence	3798	KIF5A
HP:0031064	Impaired continence	613	BCR
HP:0031064	Impaired continence	6899	TBX1
HP:0000619	Impaired convergence	57167	SALL4
HP:0006886	Impaired distal vibration sensation	8913	CACNA1G
HP:0011993	Impaired neutrophil bactericidal activity	1536	CYBB
HP:0000634	Impaired ocular abduction	57167	SALL4
HP:0000542	Impaired ocular adduction	57167	SALL4
HP:0007328	Impaired pain sensation	7681	MKRN3
HP:0007328	Impaired pain sensation	283489	CHAMP1
HP:0003540	Impaired platelet aggregation	811	CALR
HP:0010831	Impaired proprioception	51128	SAR1B
HP:0007772	Impaired smooth pursuit	4361	MRE11
HP:0007772	Impaired smooth pursuit	255928	SYT14
HP:0006938	Impaired vibration sensation at ankles	8913	CACNA1G
HP:0002166	Impaired vibration sensation in the lower limbs	8913	CACNA1G
HP:0002166	Impaired vibration sensation in the lower limbs	80208	SPG11
HP:0002166	Impaired vibration sensation in the lower limbs	3798	KIF5A
HP:0002166	Impaired vibration sensation in the lower limbs	6687	SPG7
HP:0002495	Impaired vibratory sensation	8913	CACNA1G
HP:0002495	Impaired vibratory sensation	80208	SPG11
HP:0002495	Impaired vibratory sensation	3798	KIF5A
HP:0002495	Impaired vibratory sensation	6687	SPG7
HP:0002495	Impaired vibratory sensation	51128	SAR1B
HP:0010794	Impaired visuospatial constructive cognition	2006	ELN
HP:0031466	Impairment in personality functioning	6660	SOX5
HP:0031466	Impairment in personality functioning	613	BCR
HP:0031466	Impairment in personality functioning	5230	PGK1
HP:0031466	Impairment in personality functioning	124590	USH1G
HP:0031466	Impairment in personality functioning	8913	CACNA1G
HP:0031466	Impairment in personality functioning	2778	GNAS
HP:0031466	Impairment in personality functioning	6899	TBX1
HP:0031466	Impairment in personality functioning	10518	CIB2
HP:0031466	Impairment in personality functioning	1861	TOR1A
HP:0031466	Impairment in personality functioning	10084	PQBP1
HP:0031466	Impairment in personality functioning	410	ARSA
HP:0031466	Impairment in personality functioning	6575	SLC20A2
HP:0031466	Impairment in personality functioning	79813	EHMT1
HP:0031466	Impairment in personality functioning	2006	ELN
HP:0031058	Impairment of activities of daily living	410	ARSA
HP:0031058	Impairment of activities of daily living	6687	SPG7
HP:0031058	Impairment of activities of daily living	6305	SBF1
HP:0031058	Impairment of activities of daily living	6575	SLC20A2
HP:0031058	Impairment of activities of daily living	8913	CACNA1G
HP:0031058	Impairment of activities of daily living	80208	SPG11
HP:0031058	Impairment of activities of daily living	3798	KIF5A
HP:0031058	Impairment of activities of daily living	613	BCR
HP:0031058	Impairment of activities of daily living	6899	TBX1
HP:0004915	Impairment of galactose metabolism	9652	TTC37
HP:0002540	Inability to walk	3908	LAMA2
HP:0025068	Incomitant strabismus	1123	CHN1
HP:0025068	Incomitant strabismus	57167	SALL4
HP:0003829	Incomplete penetrance	1861	TOR1A
HP:0003829	Incomplete penetrance	6496	SIX3
HP:0003829	Incomplete penetrance	78987	CRELD1
HP:0002311	Incoordination	4361	MRE11
HP:0002311	Incoordination	2006	ELN
HP:0002311	Incoordination	1130	LYST
HP:0002490	Increased CSF lactate	9997	SCO2
HP:0002490	Increased CSF lactate	4729	NDUFV2
HP:0002922	Increased CSF protein	410	ARSA
HP:0003261	Increased IgA level	23534	TNPO3
HP:0003496	Increased IgM level	23534	TNPO3
HP:0010702	Increased antibody level in blood	23534	TNPO3
HP:0004324	Increased body weight	7681	MKRN3
HP:0004324	Increased body weight	5148	PDE6G
HP:0004324	Increased body weight	6736	SRY
HP:0004324	Increased body weight	6295	SAG
HP:0004324	Increased body weight	2778	GNAS
HP:0004324	Increased body weight	64218	SEMA4A
HP:0004324	Increased body weight	83696	TRAPPC9
HP:0004324	Increased body weight	6899	TBX1
HP:0004324	Increased body weight	80208	SPG11
HP:0004324	Increased body weight	23394	ADNP
HP:0004324	Increased body weight	346007	EYS
HP:0004324	Increased body weight	1954	MEGF8
HP:0004324	Increased body weight	79813	EHMT1
HP:0004324	Increased body weight	2006	ELN
HP:0005700	Increased bone density with cystic changes	2778	GNAS
HP:0011001	Increased bone mineral density	10682	EBP
HP:0011001	Increased bone mineral density	7486	WRN
HP:0011001	Increased bone mineral density	2006	ELN
HP:0011001	Increased bone mineral density	2778	GNAS
HP:0003154	Increased circulating ACTH level	56246	MRAP
HP:0012238	Increased circulating chylomicron levels	4023	LPL
HP:0003118	Increased circulating cortisol level	2778	GNAS
HP:0000837	Increased circulating gonadotropin level	6736	SRY
HP:0003141	Increased circulating low-density lipoprotein levels	3949	LDLR
HP:0003141	Increased circulating low-density lipoprotein levels	4023	LPL
HP:0003362	Increased circulating very-low-density lipoprotein levels	4023	LPL
HP:0009025	Increased connective tissue	3908	LAMA2
HP:0100692	Increased corneal curvature	5130	PCYT1A
HP:0100692	Increased corneal curvature	5148	PDE6G
HP:0100692	Increased corneal curvature	346007	EYS
HP:0100692	Increased corneal curvature	6295	SAG
HP:0100692	Increased corneal curvature	64218	SEMA4A
HP:0006392	Increased density of long bones	2778	GNAS
HP:0040194	Increased head circumference	1605	DAG1
HP:0040194	Increased head circumference	9321	TRIP11
HP:0040194	Increased head circumference	112752	IFT43
HP:0040194	Increased head circumference	4729	NDUFV2
HP:0040194	Increased head circumference	2683	B4GALT1
HP:0040194	Increased head circumference	118429	ANTXR2
HP:0040194	Increased head circumference	2778	GNAS
HP:0040194	Increased head circumference	83737	ITCH
HP:0040194	Increased head circumference	126792	B3GALT6
HP:0040194	Increased head circumference	100128927	ZBTB42
HP:0040194	Increased head circumference	4488	MSX2
HP:0006565	Increased hepatocellular lipid droplets	51128	SAR1B
HP:0012649	Increased inflammatory response	5130	PCYT1A
HP:0012649	Increased inflammatory response	5156	PDGFRA
HP:0012649	Increased inflammatory response	1130	LYST
HP:0012649	Increased inflammatory response	57492	ARID1B
HP:0012649	Increased inflammatory response	4261	CIITA
HP:0012649	Increased inflammatory response	3257	HPS1
HP:0012649	Increased inflammatory response	26873	OPLAH
HP:0012649	Increased inflammatory response	9526	MPDU1
HP:0012649	Increased inflammatory response	3426	CFI
HP:0012649	Increased inflammatory response	80270	HSD3B7
HP:0012649	Increased inflammatory response	10682	EBP
HP:0012649	Increased inflammatory response	3561	IL2RG
HP:0012649	Increased inflammatory response	4594	MUT
HP:0012649	Increased inflammatory response	1536	CYBB
HP:0012649	Increased inflammatory response	6736	SRY
HP:0012649	Increased inflammatory response	10892	MALT1
HP:0012649	Increased inflammatory response	2778	GNAS
HP:0012649	Increased inflammatory response	6899	TBX1
HP:0012649	Increased inflammatory response	3908	LAMA2
HP:0012649	Increased inflammatory response	4023	LPL
HP:0012649	Increased inflammatory response	56262	LRRC8A
HP:0012649	Increased inflammatory response	2006	ELN
HP:0012649	Increased inflammatory response	7128	TNFAIP3
HP:0012649	Increased inflammatory response	23534	TNPO3
HP:0011877	Increased mean platelet volume	9652	TTC37
HP:0005513	Increased megakaryocyte count	811	CALR
HP:0010880	Increased nuchal translucency	2006	ELN
HP:0010880	Increased nuchal translucency	9184	BUB3
HP:0011069	Increased number of teeth	4488	MSX2
HP:0004368	Increased purine levels	5506	PPP1R3A
HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}	2778	GNAS
HP:0002151	Increased serum lactate	9997	SCO2
HP:0002151	Increased serum lactate	51660	MPC1
HP:0003542	Increased serum pyruvate	51660	MPC1
HP:0040253	Increased size of the clitoris	6736	SRY
HP:0040253	Increased size of the clitoris	23522	KAT6B
HP:0040253	Increased size of the clitoris	8318	CDC45
HP:0002659	Increased susceptibility to fractures	10516	FBLN5
HP:0002659	Increased susceptibility to fractures	126792	B3GALT6
HP:0002659	Increased susceptibility to fractures	9321	TRIP11
HP:0002659	Increased susceptibility to fractures	118429	ANTXR2
HP:0002659	Increased susceptibility to fractures	2778	GNAS
HP:0002659	Increased susceptibility to fractures	57592	ZNF687
HP:0025196	Increased total iron binding capacity	55532	SLC30A10
HP:0003593	Infantile onset	113179	ADAT3
HP:0003593	Infantile onset	10300	KATNB1
HP:0003593	Infantile onset	1605	DAG1
HP:0003593	Infantile onset	5723	PSPH
HP:0003593	Infantile onset	2778	GNAS
HP:0003593	Infantile onset	83696	TRAPPC9
HP:0003593	Infantile onset	3394	IRF8
HP:0003593	Infantile onset	23394	ADNP
HP:0003593	Infantile onset	1917	EEF1A2
HP:0003593	Infantile onset	6531	SLC6A3
HP:0003593	Infantile onset	51128	SAR1B
HP:0003593	Infantile onset	9150	CTDP1
HP:0000789	Infertility	7681	MKRN3
HP:0000789	Infertility	6736	SRY
HP:0000789	Infertility	8287	USP9Y
HP:0002037	Inflammation of the large intestine	7128	TNFAIP3
HP:0002037	Inflammation of the large intestine	4261	CIITA
HP:0002037	Inflammation of the large intestine	26873	OPLAH
HP:0002037	Inflammation of the large intestine	3257	HPS1
HP:0100533	Inflammatory abnormality of the eye	1536	CYBB
HP:0100533	Inflammatory abnormality of the eye	10892	MALT1
HP:0100533	Inflammatory abnormality of the eye	56262	LRRC8A
HP:0100533	Inflammatory abnormality of the eye	7128	TNFAIP3
HP:0100533	Inflammatory abnormality of the eye	2778	GNAS
HP:0011123	Inflammatory abnormality of the skin	1536	CYBB
HP:0011123	Inflammatory abnormality of the skin	5156	PDGFRA
HP:0011123	Inflammatory abnormality of the skin	1130	LYST
HP:0011123	Inflammatory abnormality of the skin	57492	ARID1B
HP:0011123	Inflammatory abnormality of the skin	4261	CIITA
HP:0011123	Inflammatory abnormality of the skin	6899	TBX1
HP:0011123	Inflammatory abnormality of the skin	9526	MPDU1
HP:0011123	Inflammatory abnormality of the skin	3426	CFI
HP:0011123	Inflammatory abnormality of the skin	10682	EBP
HP:0011123	Inflammatory abnormality of the skin	56262	LRRC8A
HP:0011123	Inflammatory abnormality of the skin	7128	TNFAIP3
HP:0011123	Inflammatory abnormality of the skin	3561	IL2RG
HP:0000023	Inguinal hernia	10516	FBLN5
HP:0000023	Inguinal hernia	613	BCR
HP:0000023	Inguinal hernia	57492	ARID1B
HP:0000023	Inguinal hernia	79813	EHMT1
HP:0000023	Inguinal hernia	2006	ELN
HP:0000023	Inguinal hernia	6899	TBX1
HP:0100785	Insomnia	2006	ELN
HP:0000855	Insulin resistance	5506	PPP1R3A
HP:0000855	Insulin resistance	7486	WRN
HP:0000831	Insulin-resistant diabetes mellitus	5506	PPP1R3A
HP:0001249	Intellectual disability	8318	CDC45
HP:0001249	Intellectual disability	2189	FANCG
HP:0001249	Intellectual disability	57492	ARID1B
HP:0001249	Intellectual disability	6295	SAG
HP:0001249	Intellectual disability	6305	SBF1
HP:0001249	Intellectual disability	186	AGTR2
HP:0001249	Intellectual disability	84189	SLITRK6
HP:0001249	Intellectual disability	57609	DIP2B
HP:0001249	Intellectual disability	10518	CIB2
HP:0001249	Intellectual disability	288	ANK3
HP:0001249	Intellectual disability	80208	SPG11
HP:0001249	Intellectual disability	6496	SIX3
HP:0001249	Intellectual disability	57697	FANCM
HP:0001249	Intellectual disability	410	ARSA
HP:0001249	Intellectual disability	10682	EBP
HP:0001249	Intellectual disability	445	ASS1
HP:0001249	Intellectual disability	4594	MUT
HP:0001249	Intellectual disability	6660	SOX5
HP:0001249	Intellectual disability	113179	ADAT3
HP:0001249	Intellectual disability	6736	SRY
HP:0001249	Intellectual disability	10841	FTCD
HP:0001249	Intellectual disability	613	BCR
HP:0001249	Intellectual disability	27286	SRPX2
HP:0001249	Intellectual disability	2778	GNAS
HP:0001249	Intellectual disability	64218	SEMA4A
HP:0001249	Intellectual disability	2799	GNS
HP:0001249	Intellectual disability	6899	TBX1
HP:0001249	Intellectual disability	23394	ADNP
HP:0001249	Intellectual disability	283489	CHAMP1
HP:0001249	Intellectual disability	9150	CTDP1
HP:0001249	Intellectual disability	9184	BUB3
HP:0001249	Intellectual disability	23522	KAT6B
HP:0001249	Intellectual disability	5119	CHMP1A
HP:0001249	Intellectual disability	5130	PCYT1A
HP:0001249	Intellectual disability	5148	PDE6G
HP:0001249	Intellectual disability	1130	LYST
HP:0001249	Intellectual disability	5230	PGK1
HP:0001249	Intellectual disability	3242	HPD
HP:0001249	Intellectual disability	7443	VRK1
HP:0001249	Intellectual disability	25939	SAMHD1
HP:0001249	Intellectual disability	7546	ZIC2
HP:0001249	Intellectual disability	54820	NDE1
HP:0001249	Intellectual disability	1605	DAG1
HP:0001249	Intellectual disability	56922	MCCC1
HP:0001249	Intellectual disability	5723	PSPH
HP:0001249	Intellectual disability	124590	USH1G
HP:0001249	Intellectual disability	83696	TRAPPC9
HP:0001249	Intellectual disability	79600	TCTN1
HP:0001249	Intellectual disability	5932	RBBP8
HP:0001249	Intellectual disability	3908	LAMA2
HP:0001249	Intellectual disability	126792	B3GALT6
HP:0001249	Intellectual disability	10084	PQBP1
HP:0001249	Intellectual disability	1908	EDN3
HP:0001249	Intellectual disability	1917	EEF1A2
HP:0001249	Intellectual disability	55180	LINS1
HP:0001249	Intellectual disability	346007	EYS
HP:0001249	Intellectual disability	1954	MEGF8
HP:0001249	Intellectual disability	51128	SAR1B
HP:0001249	Intellectual disability	79813	EHMT1
HP:0001249	Intellectual disability	2006	ELN
HP:0001249	Intellectual disability	51199	NIN
HP:0001256	Intellectual disability, mild	6736	SRY
HP:0001256	Intellectual disability, mild	57492	ARID1B
HP:0001256	Intellectual disability, mild	27286	SRPX2
HP:0001256	Intellectual disability, mild	3242	HPD
HP:0001256	Intellectual disability, mild	9150	CTDP1
HP:0001256	Intellectual disability, mild	6899	TBX1
HP:0002342	Intellectual disability, moderate	288	ANK3
HP:0002342	Intellectual disability, moderate	10682	EBP
HP:0002187	Intellectual disability, profound	54820	NDE1
HP:0002187	Intellectual disability, profound	25939	SAMHD1
HP:0006887	Intellectual disability, progressive	23522	KAT6B
HP:0006887	Intellectual disability, progressive	54820	NDE1
HP:0010864	Intellectual disability, severe	54820	NDE1
HP:0010864	Intellectual disability, severe	1917	EEF1A2
HP:0010864	Intellectual disability, severe	79813	EHMT1
HP:0010864	Intellectual disability, severe	83696	TRAPPC9
HP:0010864	Intellectual disability, severe	51199	NIN
HP:0002080	Intention tremor	9150	CTDP1
HP:0004878	Intercostal muscle weakness	3908	LAMA2
HP:0011029	Internal hemorrhage	5156	PDGFRA
HP:0011029	Internal hemorrhage	1130	LYST
HP:0011029	Internal hemorrhage	80270	HSD3B7
HP:0011029	Internal hemorrhage	3257	HPS1
HP:0011029	Internal hemorrhage	2006	ELN
HP:0011029	Internal hemorrhage	4594	MUT
HP:0011029	Internal hemorrhage	6899	TBX1
HP:0001220	Interphalangeal joint contracture of finger	613	BCR
HP:0001220	Interphalangeal joint contracture of finger	8318	CDC45
HP:0001220	Interphalangeal joint contracture of finger	57492	ARID1B
HP:0001220	Interphalangeal joint contracture of finger	118429	ANTXR2
HP:0001220	Interphalangeal joint contracture of finger	9150	CTDP1
HP:0001220	Interphalangeal joint contracture of finger	23522	KAT6B
HP:0011611	Interrupted aortic arch	6899	TBX1
HP:0011100	Intestinal atresia	9184	BUB3
HP:0100819	Intestinal fistula	57167	SALL4
HP:0100819	Intestinal fistula	9361	LONP1
HP:0002566	Intestinal malrotation	57492	ARID1B
HP:0002566	Intestinal malrotation	57167	SALL4
HP:0002566	Intestinal malrotation	6899	TBX1
HP:0005214	Intestinal obstruction	10516	FBLN5
HP:0005214	Intestinal obstruction	5156	PDGFRA
HP:0005214	Intestinal obstruction	1908	EDN3
HP:0005266	Intestinal polyp	2778	GNAS
HP:0005266	Intestinal polyp	9184	BUB3
HP:0005266	Intestinal polyp	1908	EDN3
HP:0200008	Intestinal polyposis	2778	GNAS
HP:0200008	Intestinal polyposis	9184	BUB3
HP:0200008	Intestinal polyposis	1908	EDN3
HP:0031306	Intracranial arterial calcification	6575	SLC20A2
HP:0010576	Intracranial cystic lesion	1605	DAG1
HP:0010576	Intracranial cystic lesion	2683	B4GALT1
HP:0010576	Intracranial cystic lesion	57492	ARID1B
HP:0010576	Intracranial cystic lesion	10682	EBP
HP:0010576	Intracranial cystic lesion	9184	BUB3
HP:0002170	Intracranial hemorrhage	2006	ELN
HP:0002170	Intracranial hemorrhage	4594	MUT
HP:0002041	Intractable diarrhea	9652	TTC37
HP:0001406	Intrahepatic cholestasis	80270	HSD3B7
HP:0001511	Intrauterine growth retardation	5723	PSPH
HP:0001511	Intrauterine growth retardation	613	BCR
HP:0001511	Intrauterine growth retardation	8318	CDC45
HP:0001511	Intrauterine growth retardation	10370	CITED2
HP:0001511	Intrauterine growth retardation	2189	FANCG
HP:0001511	Intrauterine growth retardation	57492	ARID1B
HP:0001511	Intrauterine growth retardation	6899	TBX1
HP:0001511	Intrauterine growth retardation	5932	RBBP8
HP:0001511	Intrauterine growth retardation	57697	FANCM
HP:0001511	Intrauterine growth retardation	6575	SLC20A2
HP:0001511	Intrauterine growth retardation	9652	TTC37
HP:0001511	Intrauterine growth retardation	9150	CTDP1
HP:0001511	Intrauterine growth retardation	2006	ELN
HP:0001511	Intrauterine growth retardation	9184	BUB3
HP:0001511	Intrauterine growth retardation	51199	NIN
HP:0002576	Intussusception	57492	ARID1B
HP:0004305	Involuntary movements	1130	LYST
HP:0004305	Involuntary movements	55532	SLC30A10
HP:0004305	Involuntary movements	4361	MRE11
HP:0004305	Involuntary movements	7443	VRK1
HP:0004305	Involuntary movements	80208	SPG11
HP:0004305	Involuntary movements	10617	STAMBP
HP:0004305	Involuntary movements	6531	SLC6A3
HP:0004305	Involuntary movements	410	ARSA
HP:0004305	Involuntary movements	6575	SLC20A2
HP:0004305	Involuntary movements	4594	MUT
HP:0004305	Involuntary movements	6660	SOX5
HP:0004305	Involuntary movements	2566	GABRG2
HP:0004305	Involuntary movements	54820	NDE1
HP:0004305	Involuntary movements	613	BCR
HP:0004305	Involuntary movements	8913	CACNA1G
HP:0004305	Involuntary movements	3798	KIF5A
HP:0004305	Involuntary movements	2778	GNAS
HP:0004305	Involuntary movements	79600	TCTN1
HP:0004305	Involuntary movements	6899	TBX1
HP:0004305	Involuntary movements	7957	EPM2A
HP:0004305	Involuntary movements	1861	TOR1A
HP:0004305	Involuntary movements	23394	ADNP
HP:0004305	Involuntary movements	283489	CHAMP1
HP:0004305	Involuntary movements	9150	CTDP1
HP:0004305	Involuntary movements	79813	EHMT1
HP:0004305	Involuntary movements	2006	ELN
HP:0004305	Involuntary movements	5119	CHMP1A
HP:0000612	Iris coloboma	1605	DAG1
HP:0000612	Iris coloboma	57167	SALL4
HP:0000612	Iris coloboma	1123	CHN1
HP:0000612	Iris coloboma	1414	CRYBB1
HP:0000612	Iris coloboma	1421	CRYGD
HP:0000612	Iris coloboma	79600	TCTN1
HP:0007730	Iris hypopigmentation	7681	MKRN3
HP:0007730	Iris hypopigmentation	5130	PCYT1A
HP:0007730	Iris hypopigmentation	10518	CIB2
HP:0007730	Iris hypopigmentation	124590	USH1G
HP:0007730	Iris hypopigmentation	3257	HPS1
HP:0007730	Iris hypopigmentation	1130	LYST
HP:0007400	Irregular hyperpigmentation	1536	CYBB
HP:0007400	Irregular hyperpigmentation	5156	PDGFRA
HP:0007400	Irregular hyperpigmentation	57697	FANCM
HP:0007400	Irregular hyperpigmentation	1123	CHN1
HP:0007400	Irregular hyperpigmentation	2189	FANCG
HP:0007400	Irregular hyperpigmentation	2778	GNAS
HP:0003301	Irregular vertebral endplates	126792	B3GALT6
HP:0000737	Irritability	25939	SAMHD1
HP:0000737	Irritability	445	ASS1
HP:0000737	Irritability	79813	EHMT1
HP:0000737	Irritability	2778	GNAS
HP:0002140	Ischemic stroke	2006	ELN
HP:0000952	Jaundice	10599	SLCO1B1
HP:0000952	Jaundice	1130	LYST
HP:0000952	Jaundice	80270	HSD3B7
HP:0000952	Jaundice	9652	TTC37
HP:0000952	Jaundice	4023	LPL
HP:0000952	Jaundice	23534	TNPO3
HP:0009473	Joint contracture of the hand	10084	PQBP1
HP:0009473	Joint contracture of the hand	613	BCR
HP:0009473	Joint contracture of the hand	8318	CDC45
HP:0009473	Joint contracture of the hand	57492	ARID1B
HP:0009473	Joint contracture of the hand	118429	ANTXR2
HP:0009473	Joint contracture of the hand	9150	CTDP1
HP:0009473	Joint contracture of the hand	23522	KAT6B
HP:0001373	Joint dislocation	9775	EIF4A3
HP:0001373	Joint dislocation	8318	CDC45
HP:0001373	Joint dislocation	2189	FANCG
HP:0001373	Joint dislocation	9361	LONP1
HP:0001373	Joint dislocation	57492	ARID1B
HP:0001373	Joint dislocation	6899	TBX1
HP:0001373	Joint dislocation	126792	B3GALT6
HP:0001373	Joint dislocation	57697	FANCM
HP:0001373	Joint dislocation	10682	EBP
HP:0001373	Joint dislocation	2006	ELN
HP:0001373	Joint dislocation	23522	KAT6B
HP:0005692	Joint hyperflexibility	10516	FBLN5
HP:0005692	Joint hyperflexibility	5932	RBBP8
HP:0005692	Joint hyperflexibility	126792	B3GALT6
HP:0005692	Joint hyperflexibility	613	BCR
HP:0005692	Joint hyperflexibility	112752	IFT43
HP:0005692	Joint hyperflexibility	8318	CDC45
HP:0005692	Joint hyperflexibility	9361	LONP1
HP:0005692	Joint hyperflexibility	57492	ARID1B
HP:0005692	Joint hyperflexibility	2006	ELN
HP:0005692	Joint hyperflexibility	23522	KAT6B
HP:0005692	Joint hyperflexibility	6899	TBX1
HP:0001382	Joint hypermobility	613	BCR
HP:0001382	Joint hypermobility	112752	IFT43
HP:0001382	Joint hypermobility	8318	CDC45
HP:0001382	Joint hypermobility	9361	LONP1
HP:0001382	Joint hypermobility	57492	ARID1B
HP:0001382	Joint hypermobility	6899	TBX1
HP:0001382	Joint hypermobility	10516	FBLN5
HP:0001382	Joint hypermobility	5932	RBBP8
HP:0001382	Joint hypermobility	126792	B3GALT6
HP:0001382	Joint hypermobility	283489	CHAMP1
HP:0001382	Joint hypermobility	2006	ELN
HP:0001382	Joint hypermobility	23522	KAT6B
HP:0001388	Joint laxity	10516	FBLN5
HP:0001388	Joint laxity	126792	B3GALT6
HP:0001388	Joint laxity	23394	ADNP
HP:0001388	Joint laxity	112752	IFT43
HP:0001388	Joint laxity	8318	CDC45
HP:0001388	Joint laxity	57492	ARID1B
HP:0001388	Joint laxity	2006	ELN
HP:0001387	Joint stiffness	5130	PCYT1A
HP:0001387	Joint stiffness	7486	WRN
HP:0001387	Joint stiffness	57167	SALL4
HP:0001387	Joint stiffness	118429	ANTXR2
HP:0001387	Joint stiffness	2254	FGF9
HP:0001387	Joint stiffness	2006	ELN
HP:0001387	Joint stiffness	2799	GNS
HP:0003621	Juvenile onset	1536	CYBB
HP:0003621	Juvenile onset	6443	SGCB
HP:0003621	Juvenile onset	81846	SBF2
HP:0003621	Juvenile onset	80208	SPG11
HP:0003621	Juvenile onset	2778	GNAS
HP:0003621	Juvenile onset	3426	CFI
HP:0000563	Keratoconus	5130	PCYT1A
HP:0000563	Keratoconus	5148	PDE6G
HP:0000563	Keratoconus	346007	EYS
HP:0000563	Keratoconus	6295	SAG
HP:0000563	Keratoconus	64218	SEMA4A
HP:0001993	Ketoacidosis	4594	MUT
HP:0002919	Ketonuria	56922	MCCC1
HP:0001946	Ketosis	4594	MUT
HP:0001946	Ketosis	23417	MLYCD
HP:0030186	Kinetic tremor	9150	CTDP1
HP:0011449	Knee clonus	80208	SPG11
HP:0011449	Knee clonus	3798	KIF5A
HP:0006380	Knee flexion contracture	23522	KAT6B
HP:0002751	Kyphoscoliosis	1954	MEGF8
HP:0002751	Kyphoscoliosis	81846	SBF2
HP:0002751	Kyphoscoliosis	9150	CTDP1
HP:0002751	Kyphoscoliosis	3908	LAMA2
HP:0002751	Kyphoscoliosis	126792	B3GALT6
HP:0002751	Kyphoscoliosis	80208	SPG11
HP:0002751	Kyphoscoliosis	2006	ELN
HP:0002808	Kyphosis	7681	MKRN3
HP:0002808	Kyphosis	57492	ARID1B
HP:0002808	Kyphosis	2778	GNAS
HP:0002808	Kyphosis	3908	LAMA2
HP:0002808	Kyphosis	1861	TOR1A
HP:0002808	Kyphosis	126792	B3GALT6
HP:0002808	Kyphosis	80208	SPG11
HP:0002808	Kyphosis	1954	MEGF8
HP:0002808	Kyphosis	81846	SBF2
HP:0002808	Kyphosis	10682	EBP
HP:0002808	Kyphosis	9150	CTDP1
HP:0002808	Kyphosis	2006	ELN
HP:0000065	Labial hypertrophy	23522	KAT6B
HP:0000066	Labial hypoplasia	7681	MKRN3
HP:0000066	Labial hypoplasia	8318	CDC45
HP:0100679	Lack of skin elasticity	2778	GNAS
HP:0100679	Lack of skin elasticity	7486	WRN
HP:0000632	Lacrimation abnormality	57492	ARID1B
HP:0000632	Lacrimation abnormality	2006	ELN
HP:0000632	Lacrimation abnormality	64218	SEMA4A
HP:0031028	Lactescent serum	4023	LPL
HP:0003128	Lactic acidosis	9997	SCO2
HP:0003128	Lactic acidosis	60528	ELAC2
HP:0003128	Lactic acidosis	4729	NDUFV2
HP:0003128	Lactic acidosis	23417	MLYCD
HP:0003128	Lactic acidosis	51660	MPC1
HP:0002463	Language impairment	23394	ADNP
HP:0002463	Language impairment	613	BCR
HP:0005605	Large cafe-au-lait macules with irregular margins	2778	GNAS
HP:0001129	Large central visual field defect	5130	PCYT1A
HP:0009748	Large earlobe	2006	ELN
HP:0100729	Large face	10084	PQBP1
HP:0100729	Large face	613	BCR
HP:0100729	Large face	283489	CHAMP1
HP:0100729	Large face	79600	TCTN1
HP:0100729	Large face	6899	TBX1
HP:0002265	Large fleshy ears	83696	TRAPPC9
HP:0000239	Large fontanelles	8318	CDC45
HP:0000239	Large fontanelles	4488	MSX2
HP:0001176	Large hands	5156	PDGFRA
HP:0008818	Large iliac wings	126792	B3GALT6
HP:0006267	Large placenta	9652	TTC37
HP:0012049	Laryngeal dystonia	2778	GNAS
HP:0001601	Laryngomalacia	23522	KAT6B
HP:0001601	Laryngomalacia	6899	TBX1
HP:0001601	Laryngomalacia	7486	WRN
HP:0003584	Late onset	5506	PPP1R3A
HP:0003584	Late onset	79719	AAGAB
HP:0001149	Lattice corneal dystrophy	2934	GSN
HP:0005162	Left ventricular failure	3908	LAMA2
HP:0005162	Left ventricular failure	3949	LDLR
HP:0005162	Left ventricular failure	2006	ELN
HP:0001712	Left ventricular hypertrophy	1837	DTNA
HP:0001712	Left ventricular hypertrophy	2778	GNAS
HP:0001712	Left ventricular hypertrophy	57592	ZNF687
HP:0030682	Left ventricular noncompaction	1837	DTNA
HP:0030682	Left ventricular noncompaction	4607	MYBPC3
HP:0011664	Left ventricular noncompaction cardiomyopathy	1837	DTNA
HP:0025169	Left ventricular systolic dysfunction	3908	LAMA2
HP:0005716	Lethal skeletal dysplasia	9321	TRIP11
HP:0001254	Lethargy	56922	MCCC1
HP:0001254	Lethargy	4729	NDUFV2
HP:0001254	Lethargy	445	ASS1
HP:0001254	Lethargy	4594	MUT
HP:0001909	Leukemia	2189	FANCG
HP:0001909	Leukemia	5156	PDGFRA
HP:0001909	Leukemia	811	CALR
HP:0001909	Leukemia	9184	BUB3
HP:0001909	Leukemia	613	BCR
HP:0001974	Leukocytosis	5156	PDGFRA
HP:0001974	Leukocytosis	57167	SALL4
HP:0001974	Leukocytosis	613	BCR
HP:0001974	Leukocytosis	3561	IL2RG
HP:0002415	Leukodystrophy	1605	DAG1
HP:0002415	Leukodystrophy	25939	SAMHD1
HP:0002415	Leukodystrophy	4729	NDUFV2
HP:0002352	Leukoencephalopathy	1181	CLCN2
HP:0002352	Leukoencephalopathy	80208	SPG11
HP:0002352	Leukoencephalopathy	25939	SAMHD1
HP:0002352	Leukoencephalopathy	3798	KIF5A
HP:0001882	Leukopenia	57697	FANCM
HP:0001882	Leukopenia	1130	LYST
HP:0001882	Leukopenia	2189	FANCG
HP:0001882	Leukopenia	7128	TNFAIP3
HP:0001882	Leukopenia	3561	IL2RG
HP:0001882	Leukopenia	4594	MUT
HP:0002070	Limb ataxia	1181	CLCN2
HP:0002070	Limb ataxia	255928	SYT14
HP:0002406	Limb dysmetria	6575	SLC20A2
HP:0002451	Limb dystonia	6531	SLC6A3
HP:0002509	Limb hypertonia	10300	KATNB1
HP:0003121	Limb joint contracture	1605	DAG1
HP:0003121	Limb joint contracture	613	BCR
HP:0003121	Limb joint contracture	8318	CDC45
HP:0003121	Limb joint contracture	57492	ARID1B
HP:0003121	Limb joint contracture	118429	ANTXR2
HP:0003121	Limb joint contracture	80208	SPG11
HP:0003121	Limb joint contracture	10084	PQBP1
HP:0003121	Limb joint contracture	9150	CTDP1
HP:0003121	Limb joint contracture	23522	KAT6B
HP:0003690	Limb muscle weakness	6687	SPG7
HP:0003690	Limb muscle weakness	80208	SPG11
HP:0003690	Limb muscle weakness	1130	LYST
HP:0003690	Limb muscle weakness	81846	SBF2
HP:0003690	Limb muscle weakness	3798	KIF5A
HP:0045084	Limb myoclonus	1861	TOR1A
HP:0009826	Limb undergrowth	5130	PCYT1A
HP:0009826	Limb undergrowth	9775	EIF4A3
HP:0009826	Limb undergrowth	126792	B3GALT6
HP:0009826	Limb undergrowth	57167	SALL4
HP:0009826	Limb undergrowth	57697	FANCM
HP:0009826	Limb undergrowth	1123	CHN1
HP:0009826	Limb undergrowth	9321	TRIP11
HP:0009826	Limb undergrowth	112752	IFT43
HP:0009826	Limb undergrowth	2189	FANCG
HP:0009826	Limb undergrowth	118429	ANTXR2
HP:0009826	Limb undergrowth	10682	EBP
HP:0003797	Limb-girdle muscle atrophy	6443	SGCB
HP:0003325	Limb-girdle muscle weakness	1605	DAG1
HP:0003325	Limb-girdle muscle weakness	6443	SGCB
HP:0001376	Limitation of joint mobility	5130	PCYT1A
HP:0001376	Limitation of joint mobility	118429	ANTXR2
HP:0001376	Limitation of joint mobility	2254	FGF9
HP:0001376	Limitation of joint mobility	2778	GNAS
HP:0001376	Limitation of joint mobility	2799	GNS
HP:0001376	Limitation of joint mobility	7486	WRN
HP:0001376	Limitation of joint mobility	57167	SALL4
HP:0001376	Limitation of joint mobility	2006	ELN
HP:0001376	Limitation of joint mobility	23522	KAT6B
HP:0002996	Limited elbow movement	5130	PCYT1A
HP:0002996	Limited elbow movement	57167	SALL4
HP:0007941	Limited extraocular movements	9997	SCO2
HP:0008800	Limited hip movement	5130	PCYT1A
HP:0008800	Limited hip movement	23522	KAT6B
HP:0006064	Limited interphalangeal movement	2254	FGF9
HP:0006064	Limited interphalangeal movement	57167	SALL4
HP:0006248	Limited wrist movement	57167	SALL4
HP:0000660	Lipemia retinalis	4023	LPL
HP:0006561	Lipid accumulation in hepatocytes	56922	MCCC1
HP:0006561	Lipid accumulation in hepatocytes	3949	LDLR
HP:0006561	Lipid accumulation in hepatocytes	5506	PPP1R3A
HP:0006561	Lipid accumulation in hepatocytes	51128	SAR1B
HP:0100578	Lipoatrophy	7486	WRN
HP:0100578	Lipoatrophy	4607	MYBPC3
HP:0009125	Lipodystrophy	5506	PPP1R3A
HP:0009125	Lipodystrophy	7486	WRN
HP:0009125	Lipodystrophy	126792	B3GALT6
HP:0009125	Lipodystrophy	4607	MYBPC3
HP:0001339	Lissencephaly	54820	NDE1
HP:0001339	Lissencephaly	10300	KATNB1
HP:0001339	Lissencephaly	3908	LAMA2
HP:0001339	Lissencephaly	1605	DAG1
HP:0100523	Liver abscess	1536	CYBB
HP:0009889	Localized hirsutism	57492	ARID1B
HP:0011355	Localized skin lesion	5148	PDE6G
HP:0011355	Localized skin lesion	1123	CHN1
HP:0011355	Localized skin lesion	1130	LYST
HP:0011355	Localized skin lesion	10370	CITED2
HP:0011355	Localized skin lesion	2189	FANCG
HP:0011355	Localized skin lesion	57492	ARID1B
HP:0011355	Localized skin lesion	6295	SAG
HP:0011355	Localized skin lesion	3257	HPS1
HP:0011355	Localized skin lesion	25913	POT1
HP:0011355	Localized skin lesion	7486	WRN
HP:0011355	Localized skin lesion	57697	FANCM
HP:0011355	Localized skin lesion	4488	MSX2
HP:0011355	Localized skin lesion	10682	EBP
HP:0011355	Localized skin lesion	1536	CYBB
HP:0011355	Localized skin lesion	118429	ANTXR2
HP:0011355	Localized skin lesion	2778	GNAS
HP:0011355	Localized skin lesion	64218	SEMA4A
HP:0011355	Localized skin lesion	6899	TBX1
HP:0011355	Localized skin lesion	5932	RBBP8
HP:0011355	Localized skin lesion	126792	B3GALT6
HP:0011355	Localized skin lesion	3949	LDLR
HP:0011355	Localized skin lesion	1908	EDN3
HP:0011355	Localized skin lesion	1909	EDNRA
HP:0011355	Localized skin lesion	346007	EYS
HP:0011355	Localized skin lesion	4023	LPL
HP:0011355	Localized skin lesion	2006	ELN
HP:0011355	Localized skin lesion	9184	BUB3
HP:0011355	Localized skin lesion	23522	KAT6B
HP:0000527	Long eyelashes	57492	ARID1B
HP:0000527	Long eyelashes	9150	CTDP1
HP:0000276	Long face	10084	PQBP1
HP:0000276	Long face	613	BCR
HP:0000276	Long face	283489	CHAMP1
HP:0000276	Long face	79600	TCTN1
HP:0000276	Long face	6899	TBX1
HP:0100807	Long fingers	6660	SOX5
HP:0100807	Long fingers	10516	FBLN5
HP:0100807	Long fingers	126792	B3GALT6
HP:0100807	Long fingers	10084	PQBP1
HP:0100807	Long fingers	613	BCR
HP:0100807	Long fingers	10682	EBP
HP:0100807	Long fingers	2006	ELN
HP:0100807	Long fingers	83696	TRAPPC9
HP:0100807	Long fingers	6899	TBX1
HP:0001847	Long hallux	6660	SOX5
HP:0003189	Long nose	23522	KAT6B
HP:0000040	Long penis	2778	GNAS
HP:0000343	Long philtrum	9321	TRIP11
HP:0000343	Long philtrum	57492	ARID1B
HP:0000343	Long philtrum	6899	TBX1
HP:0000343	Long philtrum	126792	B3GALT6
HP:0000343	Long philtrum	9652	TTC37
HP:0000343	Long philtrum	51660	MPC1
HP:0000343	Long philtrum	2006	ELN
HP:0000343	Long philtrum	23522	KAT6B
HP:0010511	Long toe	6660	SOX5
HP:0010511	Long toe	126792	B3GALT6
HP:0011341	Long upper lip	126792	B3GALT6
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	8913	CACNA1G
HP:0009017	Loss of gluteal subcutaneous adipose tissue	5506	PPP1R3A
HP:0002371	Loss of speech	410	ARSA
HP:0003635	Loss of subcutaneous adipose tissue in limbs	5506	PPP1R3A
HP:0002162	Low posterior hairline	6736	SRY
HP:0002162	Low posterior hairline	23522	KAT6B
HP:0002162	Low posterior hairline	1123	CHN1
HP:0003456	Low urinary cyclic AMP response to PTH administration	2778	GNAS
HP:0000369	Low-set ears	8318	CDC45
HP:0000369	Low-set ears	57492	ARID1B
HP:0000369	Low-set ears	8516	ITGA8
HP:0000369	Low-set ears	10617	STAMBP
HP:0000369	Low-set ears	9652	TTC37
HP:0000369	Low-set ears	10682	EBP
HP:0000369	Low-set ears	6660	SOX5
HP:0000369	Low-set ears	9775	EIF4A3
HP:0000369	Low-set ears	1605	DAG1
HP:0000369	Low-set ears	6736	SRY
HP:0000369	Low-set ears	2799	GNS
HP:0000369	Low-set ears	79600	TCTN1
HP:0000369	Low-set ears	6899	TBX1
HP:0000369	Low-set ears	83737	ITCH
HP:0000369	Low-set ears	283489	CHAMP1
HP:0000369	Low-set ears	1908	EDN3
HP:0000369	Low-set ears	1909	EDNRA
HP:0000369	Low-set ears	1917	EEF1A2
HP:0000369	Low-set ears	1954	MEGF8
HP:0000369	Low-set ears	56262	LRRC8A
HP:0000369	Low-set ears	2006	ELN
HP:0000369	Low-set ears	9184	BUB3
HP:0000369	Low-set ears	23522	KAT6B
HP:0000368	Low-set, posteriorly rotated ears	6736	SRY
HP:0000368	Low-set, posteriorly rotated ears	57492	ARID1B
HP:0000368	Low-set, posteriorly rotated ears	2006	ELN
HP:0000368	Low-set, posteriorly rotated ears	9184	BUB3
HP:0000368	Low-set, posteriorly rotated ears	23522	KAT6B
HP:0030311	Lower extremity joint dislocation	9775	EIF4A3
HP:0030311	Lower extremity joint dislocation	126792	B3GALT6
HP:0030311	Lower extremity joint dislocation	57697	FANCM
HP:0030311	Lower extremity joint dislocation	2189	FANCG
HP:0030311	Lower extremity joint dislocation	9361	LONP1
HP:0030311	Lower extremity joint dislocation	10682	EBP
HP:0030311	Lower extremity joint dislocation	2006	ELN
HP:0030311	Lower extremity joint dislocation	23522	KAT6B
HP:0030311	Lower extremity joint dislocation	6899	TBX1
HP:0000652	Lower eyelid coloboma	1909	EDNRA
HP:0007340	Lower limb muscle weakness	6687	SPG7
HP:0007340	Lower limb muscle weakness	80208	SPG11
HP:0007340	Lower limb muscle weakness	3798	KIF5A
HP:0002061	Lower limb spasticity	4361	MRE11
HP:0002061	Lower limb spasticity	6687	SPG7
HP:0002061	Lower limb spasticity	80208	SPG11
HP:0002061	Lower limb spasticity	3798	KIF5A
HP:0002061	Lower limb spasticity	55532	SLC30A10
HP:0002938	Lumbar hyperlordosis	6660	SOX5
HP:0002938	Lumbar hyperlordosis	1605	DAG1
HP:0004626	Lumbar scoliosis	51199	NIN
HP:0009747	Lumbosacral hirsutism	57492	ARID1B
HP:0025343	Lupus anticoagulant	7128	TNFAIP3
HP:0002840	Lymphadenitis	1536	CYBB
HP:0002716	Lymphadenopathy	1536	CYBB
HP:0002716	Lymphadenopathy	3394	IRF8
HP:0002716	Lymphadenopathy	1130	LYST
HP:0002716	Lymphadenopathy	10892	MALT1
HP:0002716	Lymphadenopathy	6049	RNF6
HP:0002716	Lymphadenopathy	3561	IL2RG
HP:0001004	Lymphedema	118429	ANTXR2
HP:0001004	Lymphedema	23522	KAT6B
HP:0002665	Lymphoma	10892	MALT1
HP:0002665	Lymphoma	79719	AAGAB
HP:0002665	Lymphoma	3561	IL2RG
HP:0002665	Lymphoma	1130	LYST
HP:0001888	Lymphopenia	7128	TNFAIP3
HP:0001888	Lymphopenia	3561	IL2RG
HP:0000256	Macrocephaly	1605	DAG1
HP:0000256	Macrocephaly	9321	TRIP11
HP:0000256	Macrocephaly	112752	IFT43
HP:0000256	Macrocephaly	4729	NDUFV2
HP:0000256	Macrocephaly	2683	B4GALT1
HP:0000256	Macrocephaly	118429	ANTXR2
HP:0000256	Macrocephaly	2778	GNAS
HP:0000256	Macrocephaly	83737	ITCH
HP:0000256	Macrocephaly	126792	B3GALT6
HP:0000256	Macrocephaly	100128927	ZBTB42
HP:0000256	Macrocephaly	4488	MSX2
HP:0001972	Macrocytic anemia	10841	FTCD
HP:0000158	Macroglossia	3908	LAMA2
HP:0000158	Macroglossia	10084	PQBP1
HP:0000158	Macroglossia	79813	EHMT1
HP:0000158	Macroglossia	2006	ELN
HP:0007227	Macrogyria	1605	DAG1
HP:0008231	Macronodular adrenal hyperplasia	2778	GNAS
HP:0000053	Macroorchidism	2778	GNAS
HP:0000400	Macrotia	54820	NDE1
HP:0000400	Macrotia	10084	PQBP1
HP:0000400	Macrotia	7546	ZIC2
HP:0000400	Macrotia	2006	ELN
HP:0000400	Macrotia	83696	TRAPPC9
HP:0000608	Macular degeneration	80208	SPG11
HP:0000608	Macular degeneration	10516	FBLN5
HP:0000608	Macular degeneration	64218	SEMA4A
HP:0040049	Macular edema	5148	PDE6G
HP:0001104	Macular hypoplasia	1130	LYST
HP:0030498	Macular thickening	5148	PDE6G
HP:0012733	Macule	1536	CYBB
HP:0012733	Macule	2778	GNAS
HP:0003067	Madelung deformity	51199	NIN
HP:0002024	Malabsorption	1536	CYBB
HP:0002024	Malabsorption	118429	ANTXR2
HP:0002024	Malabsorption	4261	CIITA
HP:0002024	Malabsorption	80270	HSD3B7
HP:0002024	Malabsorption	51128	SAR1B
HP:0002024	Malabsorption	56262	LRRC8A
HP:0002024	Malabsorption	2006	ELN
HP:0000272	Malar flattening	126792	B3GALT6
HP:0000272	Malar flattening	6496	SIX3
HP:0000272	Malar flattening	10084	PQBP1
HP:0000272	Malar flattening	613	BCR
HP:0000272	Malar flattening	57492	ARID1B
HP:0000272	Malar flattening	10682	EBP
HP:0000272	Malar flattening	79813	EHMT1
HP:0000272	Malar flattening	2006	ELN
HP:0000272	Malar flattening	6899	TBX1
HP:0010620	Malar prominence	9150	CTDP1
HP:0000026	Male hypogonadism	6736	SRY
HP:0003251	Male infertility	6736	SRY
HP:0003251	Male infertility	8287	USP9Y
HP:0000037	Male pseudohermaphroditism	6736	SRY
HP:0006749	Malignant gastrointestinal tract tumors	7486	WRN
HP:0002047	Malignant hyperthermia	83696	TRAPPC9
HP:0100836	Malignant neoplasm of the central nervous system	1908	EDN3
HP:0004395	Malnutrition	4645	MYO5B
HP:0004395	Malnutrition	51128	SAR1B
HP:0009939	Mandibular aplasia	8318	CDC45
HP:0000303	Mandibular prognathia	10084	PQBP1
HP:0000303	Mandibular prognathia	79813	EHMT1
HP:0000303	Mandibular prognathia	2778	GNAS
HP:0005321	Mandibulofacial dysostosis	1909	EDNRA
HP:0100754	Mania	6899	TBX1
HP:0000298	Mask-like facies	6575	SLC20A2
HP:0009800	Maternal diabetes	5506	PPP1R3A
HP:0002245	Meckel diverticulum	2189	FANCG
HP:0002245	Meckel diverticulum	57697	FANCM
HP:0010747	Medial flaring of the eyebrow	2006	ELN
HP:0000161	Median cleft lip	6496	SIX3
HP:0008501	Median cleft lip and palate	6496	SIX3
HP:0009099	Median cleft palate	6496	SIX3
HP:0100721	Mediastinal lymphadenopathy	1536	CYBB
HP:0100721	Mediastinal lymphadenopathy	10892	MALT1
HP:0001889	Megaloblastic anemia	10841	FTCD
HP:0000485	Megalocornea	2006	ELN
HP:0000995	Melanocytic nevus	3257	HPS1
HP:0000995	Melanocytic nevus	23522	KAT6B
HP:0000995	Melanocytic nevus	1130	LYST
HP:0002861	Melanoma	4361	MRE11
HP:0002861	Melanoma	25913	POT1
HP:0002861	Melanoma	7486	WRN
HP:0002354	Memory impairment	6687	SPG7
HP:0002354	Memory impairment	6575	SLC20A2
HP:0002858	Meningioma	2778	GNAS
HP:0002858	Meningioma	7486	WRN
HP:0001287	Meningitis	1536	CYBB
HP:0001287	Meningitis	4261	CIITA
HP:0001287	Meningitis	56262	LRRC8A
HP:0002435	Meningocele	6899	TBX1
HP:0400008	Menometrorrhagia	2778	GNAS
HP:0000858	Menstrual irregularities	7681	MKRN3
HP:0000858	Menstrual irregularities	7486	WRN
HP:0000858	Menstrual irregularities	8516	ITGA8
HP:0000858	Menstrual irregularities	6736	SRY
HP:0000858	Menstrual irregularities	5506	PPP1R3A
HP:0000858	Menstrual irregularities	9150	CTDP1
HP:0000858	Menstrual irregularities	2778	GNAS
HP:0000858	Menstrual irregularities	51199	NIN
HP:0001268	Mental deterioration	2778	GNAS
HP:0001268	Mental deterioration	7957	EPM2A
HP:0001268	Mental deterioration	80208	SPG11
HP:0001268	Mental deterioration	410	ARSA
HP:0001268	Mental deterioration	6575	SLC20A2
HP:0001942	Metabolic acidosis	8452	CUL3
HP:0001942	Metabolic acidosis	4645	MYO5B
HP:0001942	Metabolic acidosis	3242	HPD
HP:0001942	Metabolic acidosis	56922	MCCC1
HP:0001942	Metabolic acidosis	4594	MUT
HP:0001942	Metabolic acidosis	23417	MLYCD
HP:0005979	Metabolic ketoacidosis	4594	MUT
HP:0009701	Metacarpal synostosis	2254	FGF9
HP:0003021	Metaphyseal cupping	5130	PCYT1A
HP:0100255	Metaphyseal dysplasia	9361	LONP1
HP:0003025	Metaphyseal irregularity	5130	PCYT1A
HP:0003016	Metaphyseal widening	5130	PCYT1A
HP:0003016	Metaphyseal widening	126792	B3GALT6
HP:0001440	Metatarsal synostosis	2254	FGF9
HP:0001840	Metatarsus adductus	126792	B3GALT6
HP:0010508	Metatarsus valgus	1605	DAG1
HP:0002912	Methylmalonic acidemia	4594	MUT
HP:0012120	Methylmalonic aciduria	4594	MUT
HP:0000252	Microcephaly	10300	KATNB1
HP:0000252	Microcephaly	1123	CHN1
HP:0000252	Microcephaly	60528	ELAC2
HP:0000252	Microcephaly	8318	CDC45
HP:0000252	Microcephaly	2189	FANCG
HP:0000252	Microcephaly	57492	ARID1B
HP:0000252	Microcephaly	6305	SBF1
HP:0000252	Microcephaly	10516	FBLN5
HP:0000252	Microcephaly	9526	MPDU1
HP:0000252	Microcephaly	25939	SAMHD1
HP:0000252	Microcephaly	6496	SIX3
HP:0000252	Microcephaly	57697	FANCM
HP:0000252	Microcephaly	10617	STAMBP
HP:0000252	Microcephaly	7546	ZIC2
HP:0000252	Microcephaly	6575	SLC20A2
HP:0000252	Microcephaly	51660	MPC1
HP:0000252	Microcephaly	113179	ADAT3
HP:0000252	Microcephaly	54820	NDE1
HP:0000252	Microcephaly	1605	DAG1
HP:0000252	Microcephaly	5723	PSPH
HP:0000252	Microcephaly	613	BCR
HP:0000252	Microcephaly	3798	KIF5A
HP:0000252	Microcephaly	83696	TRAPPC9
HP:0000252	Microcephaly	6899	TBX1
HP:0000252	Microcephaly	5932	RBBP8
HP:0000252	Microcephaly	10084	PQBP1
HP:0000252	Microcephaly	283489	CHAMP1
HP:0000252	Microcephaly	1917	EEF1A2
HP:0000252	Microcephaly	55180	LINS1
HP:0000252	Microcephaly	79813	EHMT1
HP:0000252	Microcephaly	2006	ELN
HP:0000252	Microcephaly	9184	BUB3
HP:0000252	Microcephaly	23522	KAT6B
HP:0000252	Microcephaly	51199	NIN
HP:0000252	Microcephaly	5119	CHMP1A
HP:0000482	Microcornea	1605	DAG1
HP:0000482	Microcornea	57167	SALL4
HP:0000482	Microcornea	1123	CHN1
HP:0000482	Microcornea	1414	CRYBB1
HP:0000482	Microcornea	1421	CRYGD
HP:0000482	Microcornea	10682	EBP
HP:0000482	Microcornea	9150	CTDP1
HP:0000691	Microdontia	5932	RBBP8
HP:0000691	Microdontia	7341	SUMO1
HP:0000691	Microdontia	2006	ELN
HP:0000691	Microdontia	112752	IFT43
HP:0000171	Microglossia	5932	RBBP8
HP:0000347	Micrognathia	1123	CHN1
HP:0000347	Micrognathia	9321	TRIP11
HP:0000347	Micrognathia	112752	IFT43
HP:0000347	Micrognathia	8318	CDC45
HP:0000347	Micrognathia	2189	FANCG
HP:0000347	Micrognathia	57492	ARID1B
HP:0000347	Micrognathia	7341	SUMO1
HP:0000347	Micrognathia	57697	FANCM
HP:0000347	Micrognathia	10682	EBP
HP:0000347	Micrognathia	9775	EIF4A3
HP:0000347	Micrognathia	6736	SRY
HP:0000347	Micrognathia	6899	TBX1
HP:0000347	Micrognathia	5932	RBBP8
HP:0000347	Micrognathia	126792	B3GALT6
HP:0000347	Micrognathia	10084	PQBP1
HP:0000347	Micrognathia	1909	EDNRA
HP:0000347	Micrognathia	9150	CTDP1
HP:0000347	Micrognathia	2006	ELN
HP:0000347	Micrognathia	9184	BUB3
HP:0000347	Micrognathia	23522	KAT6B
HP:0002983	Micromelia	118429	ANTXR2
HP:0002983	Micromelia	126792	B3GALT6
HP:0002983	Micromelia	9321	TRIP11
HP:0000054	Micropenis	7681	MKRN3
HP:0000054	Micropenis	6736	SRY
HP:0000054	Micropenis	8318	CDC45
HP:0000054	Micropenis	1954	MEGF8
HP:0000054	Micropenis	79813	EHMT1
HP:0000054	Micropenis	2006	ELN
HP:0000054	Micropenis	23522	KAT6B
HP:0000568	Microphthalmia	1605	DAG1
HP:0000568	Microphthalmia	2189	FANCG
HP:0000568	Microphthalmia	6899	TBX1
HP:0000568	Microphthalmia	5932	RBBP8
HP:0000568	Microphthalmia	57167	SALL4
HP:0000568	Microphthalmia	6496	SIX3
HP:0000568	Microphthalmia	57697	FANCM
HP:0000568	Microphthalmia	10084	PQBP1
HP:0000568	Microphthalmia	30062	RAX
HP:0000568	Microphthalmia	10682	EBP
HP:0000568	Microphthalmia	9150	CTDP1
HP:0000568	Microphthalmia	9184	BUB3
HP:0000308	Microretrognathia	9775	EIF4A3
HP:0000308	Microretrognathia	10682	EBP
HP:0008551	Microtia	4488	MSX2
HP:0008551	Microtia	9652	TTC37
HP:0008551	Microtia	8318	CDC45
HP:0008551	Microtia	51199	NIN
HP:0011267	Microtia, third degree	8318	CDC45
HP:0011800	Midface retrusion	126792	B3GALT6
HP:0011800	Midface retrusion	6496	SIX3
HP:0011800	Midface retrusion	55180	LINS1
HP:0011800	Midface retrusion	1954	MEGF8
HP:0011800	Midface retrusion	10682	EBP
HP:0011800	Midface retrusion	79813	EHMT1
HP:0011800	Midface retrusion	2006	ELN
HP:0011800	Midface retrusion	23522	KAT6B
HP:0011800	Midface retrusion	6899	TBX1
HP:0010753	Midline defect of mandible	9775	EIF4A3
HP:0004122	Midline defect of the nose	9361	LONP1
HP:0002076	Migraine	5230	PGK1
HP:0011342	Mild global developmental delay	5932	RBBP8
HP:0000692	Misalignment of teeth	6660	SOX5
HP:0000692	Misalignment of teeth	5130	PCYT1A
HP:0000692	Misalignment of teeth	112752	IFT43
HP:0000692	Misalignment of teeth	2778	GNAS
HP:0000692	Misalignment of teeth	1909	EDNRA
HP:0000692	Misalignment of teeth	2006	ELN
HP:0000921	Missing ribs	126792	B3GALT6
HP:0001427	Mitochondrial inheritance	4729	NDUFV2
HP:0001653	Mitral regurgitation	6660	SOX5
HP:0001653	Mitral regurgitation	10516	FBLN5
HP:0001653	Mitral regurgitation	1837	DTNA
HP:0001653	Mitral regurgitation	126792	B3GALT6
HP:0001653	Mitral regurgitation	2006	ELN
HP:0001653	Mitral regurgitation	3949	LDLR
HP:0001634	Mitral valve prolapse	2006	ELN
HP:0001575	Mood changes	2778	GNAS
HP:0000720	Mood swings	6899	TBX1
HP:0002011	Morphological abnormality of the central nervous system	8318	CDC45
HP:0002011	Morphological abnormality of the central nervous system	57492	ARID1B
HP:0002011	Morphological abnormality of the central nervous system	4261	CIITA
HP:0002011	Morphological abnormality of the central nervous system	4361	MRE11
HP:0002011	Morphological abnormality of the central nervous system	57697	FANCM
HP:0002011	Morphological abnormality of the central nervous system	4488	MSX2
HP:0002011	Morphological abnormality of the central nervous system	410	ARSA
HP:0002011	Morphological abnormality of the central nervous system	445	ASS1
HP:0002011	Morphological abnormality of the central nervous system	4594	MUT
HP:0002011	Morphological abnormality of the central nervous system	613	BCR
HP:0002011	Morphological abnormality of the central nervous system	4729	NDUFV2
HP:0002011	Morphological abnormality of the central nervous system	8913	CACNA1G
HP:0002011	Morphological abnormality of the central nervous system	811	CALR
HP:0002011	Morphological abnormality of the central nervous system	283489	CHAMP1
HP:0002011	Morphological abnormality of the central nervous system	9150	CTDP1
HP:0002011	Morphological abnormality of the central nervous system	9184	BUB3
HP:0002011	Morphological abnormality of the central nervous system	5119	CHMP1A
HP:0002011	Morphological abnormality of the central nervous system	5130	PCYT1A
HP:0002011	Morphological abnormality of the central nervous system	1123	CHN1
HP:0002011	Morphological abnormality of the central nervous system	1130	LYST
HP:0002011	Morphological abnormality of the central nervous system	5230	PGK1
HP:0002011	Morphological abnormality of the central nervous system	9361	LONP1
HP:0002011	Morphological abnormality of the central nervous system	1181	CLCN2
HP:0002011	Morphological abnormality of the central nervous system	9526	MPDU1
HP:0002011	Morphological abnormality of the central nervous system	25939	SAMHD1
HP:0002011	Morphological abnormality of the central nervous system	1536	CYBB
HP:0002011	Morphological abnormality of the central nervous system	54820	NDE1
HP:0002011	Morphological abnormality of the central nervous system	1605	DAG1
HP:0002011	Morphological abnormality of the central nervous system	5723	PSPH
HP:0002011	Morphological abnormality of the central nervous system	124590	USH1G
HP:0002011	Morphological abnormality of the central nervous system	83696	TRAPPC9
HP:0002011	Morphological abnormality of the central nervous system	79600	TCTN1
HP:0002011	Morphological abnormality of the central nervous system	9997	SCO2
HP:0002011	Morphological abnormality of the central nervous system	5932	RBBP8
HP:0002011	Morphological abnormality of the central nervous system	10084	PQBP1
HP:0002011	Morphological abnormality of the central nervous system	1908	EDN3
HP:0002011	Morphological abnormality of the central nervous system	1917	EEF1A2
HP:0002011	Morphological abnormality of the central nervous system	55180	LINS1
HP:0002011	Morphological abnormality of the central nervous system	255928	SYT14
HP:0002011	Morphological abnormality of the central nervous system	79813	EHMT1
HP:0002011	Morphological abnormality of the central nervous system	2006	ELN
HP:0002011	Morphological abnormality of the central nervous system	51199	NIN
HP:0002011	Morphological abnormality of the central nervous system	10300	KATNB1
HP:0002011	Morphological abnormality of the central nervous system	2189	FANCG
HP:0002011	Morphological abnormality of the central nervous system	6305	SBF1
HP:0002011	Morphological abnormality of the central nervous system	10516	FBLN5
HP:0002011	Morphological abnormality of the central nervous system	10518	CIB2
HP:0002011	Morphological abnormality of the central nervous system	80208	SPG11
HP:0002011	Morphological abnormality of the central nervous system	6496	SIX3
HP:0002011	Morphological abnormality of the central nervous system	10617	STAMBP
HP:0002011	Morphological abnormality of the central nervous system	6531	SLC6A3
HP:0002011	Morphological abnormality of the central nervous system	6575	SLC20A2
HP:0002011	Morphological abnormality of the central nervous system	10682	EBP
HP:0002011	Morphological abnormality of the central nervous system	51660	MPC1
HP:0002011	Morphological abnormality of the central nervous system	6660	SOX5
HP:0002011	Morphological abnormality of the central nervous system	2566	GABRG2
HP:0002011	Morphological abnormality of the central nervous system	113179	ADAT3
HP:0002011	Morphological abnormality of the central nervous system	6687	SPG7
HP:0002011	Morphological abnormality of the central nervous system	6736	SRY
HP:0002011	Morphological abnormality of the central nervous system	2683	B4GALT1
HP:0002011	Morphological abnormality of the central nervous system	27286	SRPX2
HP:0002011	Morphological abnormality of the central nervous system	2778	GNAS
HP:0002011	Morphological abnormality of the central nervous system	6899	TBX1
HP:0002011	Morphological abnormality of the central nervous system	23417	MLYCD
HP:0002011	Morphological abnormality of the central nervous system	56262	LRRC8A
HP:0002011	Morphological abnormality of the central nervous system	23522	KAT6B
HP:0002011	Morphological abnormality of the central nervous system	60528	ELAC2
HP:0002011	Morphological abnormality of the central nervous system	7443	VRK1
HP:0002011	Morphological abnormality of the central nervous system	7486	WRN
HP:0002011	Morphological abnormality of the central nervous system	3426	CFI
HP:0002011	Morphological abnormality of the central nervous system	7546	ZIC2
HP:0002011	Morphological abnormality of the central nervous system	3561	IL2RG
HP:0002011	Morphological abnormality of the central nervous system	7681	MKRN3
HP:0002011	Morphological abnormality of the central nervous system	56922	MCCC1
HP:0002011	Morphological abnormality of the central nervous system	3798	KIF5A
HP:0002011	Morphological abnormality of the central nervous system	3908	LAMA2
HP:0002011	Morphological abnormality of the central nervous system	126792	B3GALT6
HP:0002011	Morphological abnormality of the central nervous system	57167	SALL4
HP:0002011	Morphological abnormality of the central nervous system	3949	LDLR
HP:0012718	Morphological abnormality of the gastrointestinal tract	5156	PDGFRA
HP:0012718	Morphological abnormality of the gastrointestinal tract	1123	CHN1
HP:0012718	Morphological abnormality of the gastrointestinal tract	8318	CDC45
HP:0012718	Morphological abnormality of the gastrointestinal tract	2189	FANCG
HP:0012718	Morphological abnormality of the gastrointestinal tract	9361	LONP1
HP:0012718	Morphological abnormality of the gastrointestinal tract	57492	ARID1B
HP:0012718	Morphological abnormality of the gastrointestinal tract	4261	CIITA
HP:0012718	Morphological abnormality of the gastrointestinal tract	3257	HPS1
HP:0012718	Morphological abnormality of the gastrointestinal tract	26873	OPLAH
HP:0012718	Morphological abnormality of the gastrointestinal tract	10516	FBLN5
HP:0012718	Morphological abnormality of the gastrointestinal tract	25913	POT1
HP:0012718	Morphological abnormality of the gastrointestinal tract	8516	ITGA8
HP:0012718	Morphological abnormality of the gastrointestinal tract	57697	FANCM
HP:0012718	Morphological abnormality of the gastrointestinal tract	10599	SLCO1B1
HP:0012718	Morphological abnormality of the gastrointestinal tract	6531	SLC6A3
HP:0012718	Morphological abnormality of the gastrointestinal tract	80270	HSD3B7
HP:0012718	Morphological abnormality of the gastrointestinal tract	9652	TTC37
HP:0012718	Morphological abnormality of the gastrointestinal tract	1536	CYBB
HP:0012718	Morphological abnormality of the gastrointestinal tract	6660	SOX5
HP:0012718	Morphological abnormality of the gastrointestinal tract	4645	MYO5B
HP:0012718	Morphological abnormality of the gastrointestinal tract	613	BCR
HP:0012718	Morphological abnormality of the gastrointestinal tract	118429	ANTXR2
HP:0012718	Morphological abnormality of the gastrointestinal tract	2778	GNAS
HP:0012718	Morphological abnormality of the gastrointestinal tract	79600	TCTN1
HP:0012718	Morphological abnormality of the gastrointestinal tract	6899	TBX1
HP:0012718	Morphological abnormality of the gastrointestinal tract	3908	LAMA2
HP:0012718	Morphological abnormality of the gastrointestinal tract	126792	B3GALT6
HP:0012718	Morphological abnormality of the gastrointestinal tract	57167	SALL4
HP:0012718	Morphological abnormality of the gastrointestinal tract	10084	PQBP1
HP:0012718	Morphological abnormality of the gastrointestinal tract	283489	CHAMP1
HP:0012718	Morphological abnormality of the gastrointestinal tract	79719	AAGAB
HP:0012718	Morphological abnormality of the gastrointestinal tract	1908	EDN3
HP:0012718	Morphological abnormality of the gastrointestinal tract	6049	RNF6
HP:0012718	Morphological abnormality of the gastrointestinal tract	51128	SAR1B
HP:0012718	Morphological abnormality of the gastrointestinal tract	79813	EHMT1
HP:0012718	Morphological abnormality of the gastrointestinal tract	56262	LRRC8A
HP:0012718	Morphological abnormality of the gastrointestinal tract	2006	ELN
HP:0012718	Morphological abnormality of the gastrointestinal tract	7128	TNFAIP3
HP:0012718	Morphological abnormality of the gastrointestinal tract	9184	BUB3
HP:0012718	Morphological abnormality of the gastrointestinal tract	23522	KAT6B
HP:0012718	Morphological abnormality of the gastrointestinal tract	23534	TNPO3
HP:0012718	Morphological abnormality of the gastrointestinal tract	5119	CHMP1A
HP:0011390	Morphological abnormality of the inner ear	10518	CIB2
HP:0011390	Morphological abnormality of the inner ear	124590	USH1G
HP:0011390	Morphological abnormality of the inner ear	23522	KAT6B
HP:0011390	Morphological abnormality of the inner ear	1123	CHN1
HP:0002062	Morphological abnormality of the pyramidal tract	6531	SLC6A3
HP:0002062	Morphological abnormality of the pyramidal tract	80208	SPG11
HP:0002062	Morphological abnormality of the pyramidal tract	2006	ELN
HP:0002062	Morphological abnormality of the pyramidal tract	6687	SPG7
HP:0011380	Morphological abnormality of the semicircular canal	23522	KAT6B
HP:0011376	Morphological abnormality of the vestibule of the inner ear	23522	KAT6B
HP:0040006	Mortality/Aging	4645	MYO5B
HP:0040006	Mortality/Aging	9321	TRIP11
HP:0040006	Mortality/Aging	118429	ANTXR2
HP:0040006	Mortality/Aging	9997	SCO2
HP:0040006	Mortality/Aging	10084	PQBP1
HP:0040006	Mortality/Aging	2006	ELN
HP:0007002	Motor axonal neuropathy	9150	CTDP1
HP:0001270	Motor delay	7681	MKRN3
HP:0001270	Motor delay	6660	SOX5
HP:0001270	Motor delay	10300	KATNB1
HP:0001270	Motor delay	10518	CIB2
HP:0001270	Motor delay	3908	LAMA2
HP:0001270	Motor delay	6531	SLC6A3
HP:0001270	Motor delay	9150	CTDP1
HP:0007373	Motor neuron atrophy	7443	VRK1
HP:0007373	Motor neuron atrophy	80208	SPG11
HP:0007178	Motor polyneuropathy	80208	SPG11
HP:0007178	Motor polyneuropathy	9150	CTDP1
HP:0008155	Mucopolysacchariduria	2799	GNS
HP:0000003	Multicystic kidney dysplasia	9184	BUB3
HP:0000003	Multicystic kidney dysplasia	23522	KAT6B
HP:0001426	Multifactorial inheritance	613	BCR
HP:0001426	Multifactorial inheritance	5740	PTGIS
HP:0007052	Multifocal cerebral white matter abnormalities	83696	TRAPPC9
HP:0007565	Multiple cafe-au-lait spots	2189	FANCG
HP:0007565	Multiple cafe-au-lait spots	2778	GNAS
HP:0007565	Multiple cafe-au-lait spots	9184	BUB3
HP:0007565	Multiple cafe-au-lait spots	57697	FANCM
HP:0002828	Multiple joint contractures	54820	NDE1
HP:0005562	Multiple renal cysts	2006	ELN
HP:0005562	Multiple renal cysts	6899	TBX1
HP:0006640	Multiple rib fractures	9321	TRIP11
HP:0011324	Multiple suture craniosynostosis	6899	TBX1
HP:0003394	Muscle cramps	2778	GNAS
HP:0003394	Muscle cramps	5230	PGK1
HP:0100295	Muscle fiber atrophy	3908	LAMA2
HP:0008968	Muscle hypertrophy of the lower extremities	6736	SRY
HP:0001324	Muscle weakness	1130	LYST
HP:0001324	Muscle weakness	7443	VRK1
HP:0001324	Muscle weakness	10516	FBLN5
HP:0001324	Muscle weakness	6443	SGCB
HP:0001324	Muscle weakness	80208	SPG11
HP:0001324	Muscle weakness	79188	TMEM43
HP:0001324	Muscle weakness	410	ARSA
HP:0001324	Muscle weakness	6687	SPG7
HP:0001324	Muscle weakness	1605	DAG1
HP:0001324	Muscle weakness	4729	NDUFV2
HP:0001324	Muscle weakness	3798	KIF5A
HP:0001324	Muscle weakness	2778	GNAS
HP:0001324	Muscle weakness	3908	LAMA2
HP:0001324	Muscle weakness	57167	SALL4
HP:0001324	Muscle weakness	2934	GSN
HP:0001324	Muscle weakness	81846	SBF2
HP:0001324	Muscle weakness	23522	KAT6B
HP:0003560	Muscular dystrophy	6443	SGCB
HP:0003560	Muscular dystrophy	3908	LAMA2
HP:0003560	Muscular dystrophy	1605	DAG1
HP:0003560	Muscular dystrophy	79188	TMEM43
HP:0003560	Muscular dystrophy	9184	BUB3
HP:0001252	Muscular hypotonia	57492	ARID1B
HP:0001252	Muscular hypotonia	288	ANK3
HP:0001252	Muscular hypotonia	6496	SIX3
HP:0001252	Muscular hypotonia	10617	STAMBP
HP:0001252	Muscular hypotonia	6531	SLC6A3
HP:0001252	Muscular hypotonia	410	ARSA
HP:0001252	Muscular hypotonia	10682	EBP
HP:0001252	Muscular hypotonia	51660	MPC1
HP:0001252	Muscular hypotonia	4594	MUT
HP:0001252	Muscular hypotonia	6660	SOX5
HP:0001252	Muscular hypotonia	2566	GABRG2
HP:0001252	Muscular hypotonia	113179	ADAT3
HP:0001252	Muscular hypotonia	4729	NDUFV2
HP:0001252	Muscular hypotonia	2683	B4GALT1
HP:0001252	Muscular hypotonia	6899	TBX1
HP:0001252	Muscular hypotonia	23394	ADNP
HP:0001252	Muscular hypotonia	283489	CHAMP1
HP:0001252	Muscular hypotonia	23417	MLYCD
HP:0001252	Muscular hypotonia	9184	BUB3
HP:0001252	Muscular hypotonia	23522	KAT6B
HP:0001252	Muscular hypotonia	5119	CHMP1A
HP:0001252	Muscular hypotonia	5130	PCYT1A
HP:0001252	Muscular hypotonia	60528	ELAC2
HP:0001252	Muscular hypotonia	9361	LONP1
HP:0001252	Muscular hypotonia	3242	HPD
HP:0001252	Muscular hypotonia	7443	VRK1
HP:0001252	Muscular hypotonia	9526	MPDU1
HP:0001252	Muscular hypotonia	25939	SAMHD1
HP:0001252	Muscular hypotonia	7681	MKRN3
HP:0001252	Muscular hypotonia	1605	DAG1
HP:0001252	Muscular hypotonia	56922	MCCC1
HP:0001252	Muscular hypotonia	118429	ANTXR2
HP:0001252	Muscular hypotonia	3798	KIF5A
HP:0001252	Muscular hypotonia	83696	TRAPPC9
HP:0001252	Muscular hypotonia	79600	TCTN1
HP:0001252	Muscular hypotonia	9997	SCO2
HP:0001252	Muscular hypotonia	3908	LAMA2
HP:0001252	Muscular hypotonia	1861	TOR1A
HP:0001252	Muscular hypotonia	126792	B3GALT6
HP:0001252	Muscular hypotonia	1908	EDN3
HP:0001252	Muscular hypotonia	1917	EEF1A2
HP:0001252	Muscular hypotonia	55180	LINS1
HP:0001252	Muscular hypotonia	79813	EHMT1
HP:0001252	Muscular hypotonia	2006	ELN
HP:0008936	Muscular hypotonia of the trunk	6531	SLC6A3
HP:0008936	Muscular hypotonia of the trunk	25939	SAMHD1
HP:0008936	Muscular hypotonia of the trunk	5119	CHMP1A
HP:0002300	Mutism	79813	EHMT1
HP:0002300	Mutism	57492	ARID1B
HP:0003326	Myalgia	5156	PDGFRA
HP:0003326	Myalgia	6899	TBX1
HP:0002863	Myelodysplasia	2189	FANCG
HP:0002863	Myelodysplasia	811	CALR
HP:0002863	Myelodysplasia	9184	BUB3
HP:0002863	Myelodysplasia	57697	FANCM
HP:0011974	Myelofibrosis	811	CALR
HP:0005547	Myeloproliferative disorder	5156	PDGFRA
HP:0005547	Myeloproliferative disorder	613	BCR
HP:0005547	Myeloproliferative disorder	811	CALR
HP:0001658	Myocardial infarction	811	CALR
HP:0001658	Myocardial infarction	4023	LPL
HP:0001658	Myocardial infarction	7486	WRN
HP:0001658	Myocardial infarction	2006	ELN
HP:0001658	Myocardial infarction	3949	LDLR
HP:0006693	Myocardial steatosis	3949	LDLR
HP:0003739	Myoclonic spasms	2778	GNAS
HP:0001336	Myoclonus	7957	EPM2A
HP:0001336	Myoclonus	1861	TOR1A
HP:0001336	Myoclonus	10617	STAMBP
HP:0001336	Myoclonus	2778	GNAS
HP:0002913	Myoglobinuria	5230	PGK1
HP:0002411	Myokymia	8913	CACNA1G
HP:0002058	Myopathic facies	3908	LAMA2
HP:0003198	Myopathy	5230	PGK1
HP:0003198	Myopathy	2683	B4GALT1
HP:0003198	Myopathy	51128	SAR1B
HP:0003198	Myopathy	2006	ELN
HP:0003198	Myopathy	4607	MYBPC3
HP:0000545	Myopia	7681	MKRN3
HP:0000545	Myopia	6660	SOX5
HP:0000545	Myopia	5130	PCYT1A
HP:0000545	Myopia	1605	DAG1
HP:0000545	Myopia	112752	IFT43
HP:0000545	Myopia	8318	CDC45
HP:0000545	Myopia	57492	ARID1B
HP:0000545	Myopia	6295	SAG
HP:0000545	Myopia	84189	SLITRK6
HP:0000545	Myopia	9997	SCO2
HP:0000545	Myopia	126792	B3GALT6
HP:0000545	Myopia	1414	CRYBB1
HP:0000545	Myopia	4488	MSX2
HP:0000545	Myopia	1421	CRYGD
HP:0000545	Myopia	2006	ELN
HP:0000545	Myopia	5119	CHMP1A
HP:0100614	Myositis	3908	LAMA2
HP:0004764	Myxomatous mitral valve degeneration	2006	ELN
HP:0002164	Nail dysplasia	6736	SRY
HP:0002164	Nail dysplasia	112752	IFT43
HP:0008404	Nail dystrophy	10084	PQBP1
HP:0000774	Narrow chest	9321	TRIP11
HP:0000774	Narrow chest	112752	IFT43
HP:0000275	Narrow face	5932	RBBP8
HP:0000275	Narrow face	7486	WRN
HP:0000275	Narrow face	2006	ELN
HP:0000275	Narrow face	10084	PQBP1
HP:0000275	Narrow face	6899	TBX1
HP:0001786	Narrow foot	10084	PQBP1
HP:0000341	Narrow forehead	7681	MKRN3
HP:0000341	Narrow forehead	5932	RBBP8
HP:0000341	Narrow forehead	2006	ELN
HP:0000341	Narrow forehead	83696	TRAPPC9
HP:0000341	Narrow forehead	7546	ZIC2
HP:0003375	Narrow greater sacrosciatic notches	5130	PCYT1A
HP:0011386	Narrow internal auditory canal	1123	CHN1
HP:0000160	Narrow mouth	9775	EIF4A3
HP:0000160	Narrow mouth	126792	B3GALT6
HP:0000160	Narrow mouth	10084	PQBP1
HP:0000160	Narrow mouth	613	BCR
HP:0000160	Narrow mouth	8318	CDC45
HP:0000160	Narrow mouth	9652	TTC37
HP:0000160	Narrow mouth	6899	TBX1
HP:0009933	Narrow naris	1954	MEGF8
HP:0000446	Narrow nasal bridge	7681	MKRN3
HP:0000446	Narrow nasal bridge	57492	ARID1B
HP:0000189	Narrow palate	6660	SOX5
HP:0000189	Narrow palate	613	BCR
HP:0000189	Narrow palate	8318	CDC45
HP:0000189	Narrow palate	57492	ARID1B
HP:0000189	Narrow palate	1954	MEGF8
HP:0000189	Narrow palate	2006	ELN
HP:0000189	Narrow palate	6899	TBX1
HP:0004283	Narrow palm	7681	MKRN3
HP:0001611	Nasal speech	7681	MKRN3
HP:0001611	Nasal speech	10084	PQBP1
HP:0001611	Nasal speech	6899	TBX1
HP:0000695	Natal tooth	79813	EHMT1
HP:0002018	Nausea	4023	LPL
HP:0002017	Nausea and vomiting	5156	PDGFRA
HP:0002017	Nausea and vomiting	56922	MCCC1
HP:0002017	Nausea and vomiting	4729	NDUFV2
HP:0002017	Nausea and vomiting	10892	MALT1
HP:0002017	Nausea and vomiting	26873	OPLAH
HP:0002017	Nausea and vomiting	1908	EDN3
HP:0002017	Nausea and vomiting	23417	MLYCD
HP:0002017	Nausea and vomiting	6049	RNF6
HP:0002017	Nausea and vomiting	4023	LPL
HP:0002017	Nausea and vomiting	51128	SAR1B
HP:0002017	Nausea and vomiting	445	ASS1
HP:0002017	Nausea and vomiting	2006	ELN
HP:0002017	Nausea and vomiting	4594	MUT
HP:0000467	Neck muscle weakness	79188	TMEM43
HP:0003203	Negative nitroblue tetrazolium reduction test	1536	CYBB
HP:0006566	Neonatal cholestatic liver disease	80270	HSD3B7
HP:0001319	Neonatal hypotonia	3908	LAMA2
HP:0001319	Neonatal hypotonia	1917	EEF1A2
HP:0001319	Neonatal hypotonia	57492	ARID1B
HP:0003623	Neonatal onset	80270	HSD3B7
HP:0003623	Neonatal onset	445	ASS1
HP:0002664	Neoplasm	5156	PDGFRA
HP:0002664	Neoplasm	7251	TSG101
HP:0002664	Neoplasm	1130	LYST
HP:0002664	Neoplasm	2189	FANCG
HP:0002664	Neoplasm	57492	ARID1B
HP:0002664	Neoplasm	4361	MRE11
HP:0002664	Neoplasm	25913	POT1
HP:0002664	Neoplasm	7486	WRN
HP:0002664	Neoplasm	57697	FANCM
HP:0002664	Neoplasm	3561	IL2RG
HP:0002664	Neoplasm	6736	SRY
HP:0002664	Neoplasm	613	BCR
HP:0002664	Neoplasm	10892	MALT1
HP:0002664	Neoplasm	118429	ANTXR2
HP:0002664	Neoplasm	2778	GNAS
HP:0002664	Neoplasm	811	CALR
HP:0002664	Neoplasm	126792	B3GALT6
HP:0002664	Neoplasm	79719	AAGAB
HP:0002664	Neoplasm	1908	EDN3
HP:0002664	Neoplasm	6049	RNF6
HP:0002664	Neoplasm	56262	LRRC8A
HP:0002664	Neoplasm	9184	BUB3
HP:0002664	Neoplasm	23522	KAT6B
HP:0002664	Neoplasm	23534	TNPO3
HP:0011793	Neoplasm by anatomical site	5156	PDGFRA
HP:0011793	Neoplasm by anatomical site	7251	TSG101
HP:0011793	Neoplasm by anatomical site	1130	LYST
HP:0011793	Neoplasm by anatomical site	2189	FANCG
HP:0011793	Neoplasm by anatomical site	57492	ARID1B
HP:0011793	Neoplasm by anatomical site	4361	MRE11
HP:0011793	Neoplasm by anatomical site	25913	POT1
HP:0011793	Neoplasm by anatomical site	7486	WRN
HP:0011793	Neoplasm by anatomical site	57697	FANCM
HP:0011793	Neoplasm by anatomical site	3561	IL2RG
HP:0011793	Neoplasm by anatomical site	6736	SRY
HP:0011793	Neoplasm by anatomical site	613	BCR
HP:0011793	Neoplasm by anatomical site	10892	MALT1
HP:0011793	Neoplasm by anatomical site	2778	GNAS
HP:0011793	Neoplasm by anatomical site	811	CALR
HP:0011793	Neoplasm by anatomical site	126792	B3GALT6
HP:0011793	Neoplasm by anatomical site	79719	AAGAB
HP:0011793	Neoplasm by anatomical site	1908	EDN3
HP:0011793	Neoplasm by anatomical site	6049	RNF6
HP:0011793	Neoplasm by anatomical site	56262	LRRC8A
HP:0011793	Neoplasm by anatomical site	9184	BUB3
HP:0011793	Neoplasm by anatomical site	23522	KAT6B
HP:0011793	Neoplasm by anatomical site	23534	TNPO3
HP:0011792	Neoplasm by histology	5156	PDGFRA
HP:0011792	Neoplasm by histology	6736	SRY
HP:0011792	Neoplasm by histology	118429	ANTXR2
HP:0011792	Neoplasm by histology	2778	GNAS
HP:0011792	Neoplasm by histology	4361	MRE11
HP:0011792	Neoplasm by histology	25913	POT1
HP:0011792	Neoplasm by histology	7486	WRN
HP:0011792	Neoplasm by histology	1908	EDN3
HP:0011792	Neoplasm by histology	9184	BUB3
HP:0012288	Neoplasm of head and neck	6049	RNF6
HP:0012288	Neoplasm of head and neck	5156	PDGFRA
HP:0009728	Neoplasm of striated muscle	9184	BUB3
HP:0011750	Neoplasm of the anterior pituitary	2778	GNAS
HP:0100013	Neoplasm of the breast	4361	MRE11
HP:0100013	Neoplasm of the breast	25913	POT1
HP:0100013	Neoplasm of the breast	7486	WRN
HP:0100013	Neoplasm of the breast	7251	TSG101
HP:0100013	Neoplasm of the breast	2778	GNAS
HP:0100013	Neoplasm of the breast	79719	AAGAB
HP:0100006	Neoplasm of the central nervous system	7486	WRN
HP:0100006	Neoplasm of the central nervous system	2778	GNAS
HP:0100006	Neoplasm of the central nervous system	1908	EDN3
HP:0100273	Neoplasm of the colon	9184	BUB3
HP:0100273	Neoplasm of the colon	5156	PDGFRA
HP:0100273	Neoplasm of the colon	79719	AAGAB
HP:0100568	Neoplasm of the endocrine system	7486	WRN
HP:0100568	Neoplasm of the endocrine system	2778	GNAS
HP:0100568	Neoplasm of the endocrine system	1908	EDN3
HP:0007378	Neoplasm of the gastrointestinal tract	4361	MRE11
HP:0007378	Neoplasm of the gastrointestinal tract	5156	PDGFRA
HP:0007378	Neoplasm of the gastrointestinal tract	25913	POT1
HP:0007378	Neoplasm of the gastrointestinal tract	7486	WRN
HP:0007378	Neoplasm of the gastrointestinal tract	79719	AAGAB
HP:0007378	Neoplasm of the gastrointestinal tract	1908	EDN3
HP:0007378	Neoplasm of the gastrointestinal tract	6049	RNF6
HP:0007378	Neoplasm of the gastrointestinal tract	2778	GNAS
HP:0007378	Neoplasm of the gastrointestinal tract	9184	BUB3
HP:0007378	Neoplasm of the gastrointestinal tract	23534	TNPO3
HP:0007379	Neoplasm of the genitourinary tract	4361	MRE11
HP:0007379	Neoplasm of the genitourinary tract	7486	WRN
HP:0007379	Neoplasm of the genitourinary tract	6736	SRY
HP:0007379	Neoplasm of the genitourinary tract	79719	AAGAB
HP:0007379	Neoplasm of the genitourinary tract	2778	GNAS
HP:0007379	Neoplasm of the genitourinary tract	9184	BUB3
HP:0100834	Neoplasm of the large intestine	5156	PDGFRA
HP:0100834	Neoplasm of the large intestine	9184	BUB3
HP:0100834	Neoplasm of the large intestine	79719	AAGAB
HP:0002896	Neoplasm of the liver	23534	TNPO3
HP:0100526	Neoplasm of the lung	7486	WRN
HP:0100848	Neoplasm of the male external genitalia	6736	SRY
HP:0100848	Neoplasm of the male external genitalia	2778	GNAS
HP:0004375	Neoplasm of the nervous system	5156	PDGFRA
HP:0004375	Neoplasm of the nervous system	7486	WRN
HP:0004375	Neoplasm of the nervous system	1908	EDN3
HP:0004375	Neoplasm of the nervous system	2778	GNAS
HP:0100649	Neoplasm of the oral cavity	23522	KAT6B
HP:0100649	Neoplasm of the oral cavity	7486	WRN
HP:0002894	Neoplasm of the pancreas	4361	MRE11
HP:0002894	Neoplasm of the pancreas	25913	POT1
HP:0002894	Neoplasm of the pancreas	79719	AAGAB
HP:0100007	Neoplasm of the peripheral nervous system	5156	PDGFRA
HP:0100007	Neoplasm of the peripheral nervous system	1908	EDN3
HP:0040277	Neoplasm of the pituitary gland	2778	GNAS
HP:0100743	Neoplasm of the rectum	5156	PDGFRA
HP:0100606	Neoplasm of the respiratory system	7486	WRN
HP:0010622	Neoplasm of the skeletal system	7486	WRN
HP:0010622	Neoplasm of the skeletal system	126792	B3GALT6
HP:0010622	Neoplasm of the skeletal system	2778	GNAS
HP:0008069	Neoplasm of the skin	5156	PDGFRA
HP:0008069	Neoplasm of the skin	7486	WRN
HP:0008069	Neoplasm of the skin	6049	RNF6
HP:0008069	Neoplasm of the skin	56262	LRRC8A
HP:0100833	Neoplasm of the small intestine	5156	PDGFRA
HP:0100833	Neoplasm of the small intestine	7486	WRN
HP:0006753	Neoplasm of the stomach	5156	PDGFRA
HP:0006753	Neoplasm of the stomach	25913	POT1
HP:0006753	Neoplasm of the stomach	9184	BUB3
HP:0100031	Neoplasm of the thyroid gland	7486	WRN
HP:0100031	Neoplasm of the thyroid gland	2778	GNAS
HP:0100031	Neoplasm of the thyroid gland	1908	EDN3
HP:0100648	Neoplasm of the tongue	23522	KAT6B
HP:0000123	Nephritis	3426	CFI
HP:0002667	Nephroblastoma	6736	SRY
HP:0002667	Nephroblastoma	9184	BUB3
HP:0000121	Nephrocalcinosis	4645	MYO5B
HP:0000121	Nephrocalcinosis	2006	ELN
HP:0000121	Nephrocalcinosis	57592	ZNF687
HP:0000787	Nephrolithiasis	2006	ELN
HP:0000787	Nephrolithiasis	2778	GNAS
HP:0000787	Nephrolithiasis	26873	OPLAH
HP:0000090	Nephronophthisis	112752	IFT43
HP:0000100	Nephrotic syndrome	7225	TRPC6
HP:0000100	Nephrotic syndrome	6736	SRY
HP:0000100	Nephrotic syndrome	2934	GSN
HP:0000100	Nephrotic syndrome	3561	IL2RG
HP:0030060	Nervous tissue neoplasm	1908	EDN3
HP:0045005	Neural tube defect	57167	SALL4
HP:0045005	Neural tube defect	57697	FANCM
HP:0045005	Neural tube defect	1123	CHN1
HP:0045005	Neural tube defect	2189	FANCG
HP:0045005	Neural tube defect	57492	ARID1B
HP:0045005	Neural tube defect	2006	ELN
HP:0045005	Neural tube defect	6899	TBX1
HP:0004376	Neuroblastic tumors	1908	EDN3
HP:0003006	Neuroblastoma	1908	EDN3
HP:0002180	Neurodegeneration	1130	LYST
HP:0012759	Neurodevelopmental abnormality	8318	CDC45
HP:0012759	Neurodevelopmental abnormality	57492	ARID1B
HP:0012759	Neurodevelopmental abnormality	186	AGTR2
HP:0012759	Neurodevelopmental abnormality	57609	DIP2B
HP:0012759	Neurodevelopmental abnormality	288	ANK3
HP:0012759	Neurodevelopmental abnormality	57697	FANCM
HP:0012759	Neurodevelopmental abnormality	410	ARSA
HP:0012759	Neurodevelopmental abnormality	445	ASS1
HP:0012759	Neurodevelopmental abnormality	4594	MUT
HP:0012759	Neurodevelopmental abnormality	4645	MYO5B
HP:0012759	Neurodevelopmental abnormality	613	BCR
HP:0012759	Neurodevelopmental abnormality	4729	NDUFV2
HP:0012759	Neurodevelopmental abnormality	283489	CHAMP1
HP:0012759	Neurodevelopmental abnormality	9150	CTDP1
HP:0012759	Neurodevelopmental abnormality	9184	BUB3
HP:0012759	Neurodevelopmental abnormality	5119	CHMP1A
HP:0012759	Neurodevelopmental abnormality	5130	PCYT1A
HP:0012759	Neurodevelopmental abnormality	5148	PDE6G
HP:0012759	Neurodevelopmental abnormality	1123	CHN1
HP:0012759	Neurodevelopmental abnormality	1130	LYST
HP:0012759	Neurodevelopmental abnormality	5230	PGK1
HP:0012759	Neurodevelopmental abnormality	9361	LONP1
HP:0012759	Neurodevelopmental abnormality	9526	MPDU1
HP:0012759	Neurodevelopmental abnormality	25939	SAMHD1
HP:0012759	Neurodevelopmental abnormality	54820	NDE1
HP:0012759	Neurodevelopmental abnormality	9775	EIF4A3
HP:0012759	Neurodevelopmental abnormality	1605	DAG1
HP:0012759	Neurodevelopmental abnormality	5723	PSPH
HP:0012759	Neurodevelopmental abnormality	124590	USH1G
HP:0012759	Neurodevelopmental abnormality	83696	TRAPPC9
HP:0012759	Neurodevelopmental abnormality	79600	TCTN1
HP:0012759	Neurodevelopmental abnormality	9997	SCO2
HP:0012759	Neurodevelopmental abnormality	83737	ITCH
HP:0012759	Neurodevelopmental abnormality	5932	RBBP8
HP:0012759	Neurodevelopmental abnormality	10084	PQBP1
HP:0012759	Neurodevelopmental abnormality	1908	EDN3
HP:0012759	Neurodevelopmental abnormality	1917	EEF1A2
HP:0012759	Neurodevelopmental abnormality	55180	LINS1
HP:0012759	Neurodevelopmental abnormality	346007	EYS
HP:0012759	Neurodevelopmental abnormality	1954	MEGF8
HP:0012759	Neurodevelopmental abnormality	51128	SAR1B
HP:0012759	Neurodevelopmental abnormality	255928	SYT14
HP:0012759	Neurodevelopmental abnormality	79813	EHMT1
HP:0012759	Neurodevelopmental abnormality	2006	ELN
HP:0012759	Neurodevelopmental abnormality	51199	NIN
HP:0012759	Neurodevelopmental abnormality	10300	KATNB1
HP:0012759	Neurodevelopmental abnormality	2189	FANCG
HP:0012759	Neurodevelopmental abnormality	6295	SAG
HP:0012759	Neurodevelopmental abnormality	6305	SBF1
HP:0012759	Neurodevelopmental abnormality	84189	SLITRK6
HP:0012759	Neurodevelopmental abnormality	10518	CIB2
HP:0012759	Neurodevelopmental abnormality	80208	SPG11
HP:0012759	Neurodevelopmental abnormality	6496	SIX3
HP:0012759	Neurodevelopmental abnormality	10617	STAMBP
HP:0012759	Neurodevelopmental abnormality	6531	SLC6A3
HP:0012759	Neurodevelopmental abnormality	10682	EBP
HP:0012759	Neurodevelopmental abnormality	51660	MPC1
HP:0012759	Neurodevelopmental abnormality	6660	SOX5
HP:0012759	Neurodevelopmental abnormality	2566	GABRG2
HP:0012759	Neurodevelopmental abnormality	113179	ADAT3
HP:0012759	Neurodevelopmental abnormality	6736	SRY
HP:0012759	Neurodevelopmental abnormality	10841	FTCD
HP:0012759	Neurodevelopmental abnormality	2683	B4GALT1
HP:0012759	Neurodevelopmental abnormality	27286	SRPX2
HP:0012759	Neurodevelopmental abnormality	2778	GNAS
HP:0012759	Neurodevelopmental abnormality	64218	SEMA4A
HP:0012759	Neurodevelopmental abnormality	2799	GNS
HP:0012759	Neurodevelopmental abnormality	6899	TBX1
HP:0012759	Neurodevelopmental abnormality	23394	ADNP
HP:0012759	Neurodevelopmental abnormality	23417	MLYCD
HP:0012759	Neurodevelopmental abnormality	23522	KAT6B
HP:0012759	Neurodevelopmental abnormality	60528	ELAC2
HP:0012759	Neurodevelopmental abnormality	3242	HPD
HP:0012759	Neurodevelopmental abnormality	7443	VRK1
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2
HP:0012759	Neurodevelopmental abnormality	7681	MKRN3
HP:0012759	Neurodevelopmental abnormality	56922	MCCC1
HP:0012759	Neurodevelopmental abnormality	3798	KIF5A
HP:0012759	Neurodevelopmental abnormality	3908	LAMA2
HP:0012759	Neurodevelopmental abnormality	126792	B3GALT6
HP:0012758	Neurodevelopmental delay	10300	KATNB1
HP:0012758	Neurodevelopmental delay	8318	CDC45
HP:0012758	Neurodevelopmental delay	2189	FANCG
HP:0012758	Neurodevelopmental delay	57492	ARID1B
HP:0012758	Neurodevelopmental delay	10518	CIB2
HP:0012758	Neurodevelopmental delay	6496	SIX3
HP:0012758	Neurodevelopmental delay	57697	FANCM
HP:0012758	Neurodevelopmental delay	10617	STAMBP
HP:0012758	Neurodevelopmental delay	6531	SLC6A3
HP:0012758	Neurodevelopmental delay	10682	EBP
HP:0012758	Neurodevelopmental delay	445	ASS1
HP:0012758	Neurodevelopmental delay	51660	MPC1
HP:0012758	Neurodevelopmental delay	4594	MUT
HP:0012758	Neurodevelopmental delay	6660	SOX5
HP:0012758	Neurodevelopmental delay	2566	GABRG2
HP:0012758	Neurodevelopmental delay	4645	MYO5B
HP:0012758	Neurodevelopmental delay	613	BCR
HP:0012758	Neurodevelopmental delay	4729	NDUFV2
HP:0012758	Neurodevelopmental delay	2683	B4GALT1
HP:0012758	Neurodevelopmental delay	2799	GNS
HP:0012758	Neurodevelopmental delay	6899	TBX1
HP:0012758	Neurodevelopmental delay	23394	ADNP
HP:0012758	Neurodevelopmental delay	283489	CHAMP1
HP:0012758	Neurodevelopmental delay	23417	MLYCD
HP:0012758	Neurodevelopmental delay	9150	CTDP1
HP:0012758	Neurodevelopmental delay	9184	BUB3
HP:0012758	Neurodevelopmental delay	23522	KAT6B
HP:0012758	Neurodevelopmental delay	5119	CHMP1A
HP:0012758	Neurodevelopmental delay	5130	PCYT1A
HP:0012758	Neurodevelopmental delay	1123	CHN1
HP:0012758	Neurodevelopmental delay	1130	LYST
HP:0012758	Neurodevelopmental delay	5230	PGK1
HP:0012758	Neurodevelopmental delay	60528	ELAC2
HP:0012758	Neurodevelopmental delay	9361	LONP1
HP:0012758	Neurodevelopmental delay	7443	VRK1
HP:0012758	Neurodevelopmental delay	9526	MPDU1
HP:0012758	Neurodevelopmental delay	25939	SAMHD1
HP:0012758	Neurodevelopmental delay	7546	ZIC2
HP:0012758	Neurodevelopmental delay	7681	MKRN3
HP:0012758	Neurodevelopmental delay	54820	NDE1
HP:0012758	Neurodevelopmental delay	9775	EIF4A3
HP:0012758	Neurodevelopmental delay	1605	DAG1
HP:0012758	Neurodevelopmental delay	56922	MCCC1
HP:0012758	Neurodevelopmental delay	5723	PSPH
HP:0012758	Neurodevelopmental delay	124590	USH1G
HP:0012758	Neurodevelopmental delay	83696	TRAPPC9
HP:0012758	Neurodevelopmental delay	79600	TCTN1
HP:0012758	Neurodevelopmental delay	9997	SCO2
HP:0012758	Neurodevelopmental delay	83737	ITCH
HP:0012758	Neurodevelopmental delay	5932	RBBP8
HP:0012758	Neurodevelopmental delay	3908	LAMA2
HP:0012758	Neurodevelopmental delay	126792	B3GALT6
HP:0012758	Neurodevelopmental delay	10084	PQBP1
HP:0012758	Neurodevelopmental delay	1917	EEF1A2
HP:0012758	Neurodevelopmental delay	55180	LINS1
HP:0012758	Neurodevelopmental delay	1954	MEGF8
HP:0012758	Neurodevelopmental delay	255928	SYT14
HP:0012758	Neurodevelopmental delay	79813	EHMT1
HP:0012758	Neurodevelopmental delay	51199	NIN
HP:0030061	Neuroectodermal neoplasm	1908	EDN3
HP:0030063	Neuroepithelial neoplasm	1908	EDN3
HP:0001067	Neurofibromas	5156	PDGFRA
HP:0002167	Neurological speech impairment	57492	ARID1B
HP:0002167	Neurological speech impairment	55532	SLC30A10
HP:0002167	Neurological speech impairment	4361	MRE11
HP:0002167	Neurological speech impairment	9526	MPDU1
HP:0002167	Neurological speech impairment	80208	SPG11
HP:0002167	Neurological speech impairment	410	ARSA
HP:0002167	Neurological speech impairment	6575	SLC20A2
HP:0002167	Neurological speech impairment	4594	MUT
HP:0002167	Neurological speech impairment	6687	SPG7
HP:0002167	Neurological speech impairment	1605	DAG1
HP:0002167	Neurological speech impairment	8913	CACNA1G
HP:0002167	Neurological speech impairment	2778	GNAS
HP:0002167	Neurological speech impairment	2799	GNS
HP:0002167	Neurological speech impairment	6899	TBX1
HP:0002167	Neurological speech impairment	1861	TOR1A
HP:0002167	Neurological speech impairment	55180	LINS1
HP:0002167	Neurological speech impairment	255928	SYT14
HP:0002167	Neurological speech impairment	79813	EHMT1
HP:0002167	Neurological speech impairment	2006	ELN
HP:0002167	Neurological speech impairment	23522	KAT6B
HP:0002167	Neurological speech impairment	5119	CHMP1A
HP:0200147	Neuronal loss in basal ganglia	7443	VRK1
HP:0002529	Neuronal loss in central nervous system	9997	SCO2
HP:0030450	Neuroplasm of the autonomic nervous system	1908	EDN3
HP:0001875	Neutropenia	2189	FANCG
HP:0001875	Neutropenia	4261	CIITA
HP:0001875	Neutropenia	56262	LRRC8A
HP:0001875	Neutropenia	1130	LYST
HP:0001875	Neutropenia	4594	MUT
HP:0003764	Nevus	25913	POT1
HP:0003764	Nevus	1130	LYST
HP:0003764	Nevus	3257	HPS1
HP:0003764	Nevus	2006	ELN
HP:0003764	Nevus	23522	KAT6B
HP:0001052	Nevus flammeus	2006	ELN
HP:0010732	Nodular changes affecting the eyelids	4023	LPL
HP:0010732	Nodular changes affecting the eyelids	3949	LDLR
HP:0012539	Non-Hodgkin lymphoma	10892	MALT1
HP:0100335	Non-midline cleft lip	8516	ITGA8
HP:0100335	Non-midline cleft lip	7341	SUMO1
HP:0100338	Non-midline cleft palate	7341	SUMO1
HP:0011961	Non-obstructive azoospermia	8287	USP9Y
HP:0012817	Noncompaction cardiomyopathy	1837	DTNA
HP:0031475	Nonconvulsive status epilepticus	2566	GABRG2
HP:0001958	Nonketotic hypoglycemia	8516	ITGA8
HP:0100018	Nuclear cataract	1414	CRYBB1
HP:0000662	Nyctalopia	5130	PCYT1A
HP:0000662	Nyctalopia	10518	CIB2
HP:0000662	Nyctalopia	5148	PDE6G
HP:0000662	Nyctalopia	4646	MYO6
HP:0000662	Nyctalopia	80270	HSD3B7
HP:0000662	Nyctalopia	346007	EYS
HP:0000662	Nyctalopia	6295	SAG
HP:0000662	Nyctalopia	124590	USH1G
HP:0000662	Nyctalopia	64218	SEMA4A
HP:0000662	Nyctalopia	83696	TRAPPC9
HP:0000639	Nystagmus	5130	PCYT1A
HP:0000639	Nystagmus	5148	PDE6G
HP:0000639	Nystagmus	1123	CHN1
HP:0000639	Nystagmus	1130	LYST
HP:0000639	Nystagmus	112752	IFT43
HP:0000639	Nystagmus	2189	FANCG
HP:0000639	Nystagmus	9361	LONP1
HP:0000639	Nystagmus	57492	ARID1B
HP:0000639	Nystagmus	6295	SAG
HP:0000639	Nystagmus	3257	HPS1
HP:0000639	Nystagmus	4361	MRE11
HP:0000639	Nystagmus	9526	MPDU1
HP:0000639	Nystagmus	80208	SPG11
HP:0000639	Nystagmus	57697	FANCM
HP:0000639	Nystagmus	1414	CRYBB1
HP:0000639	Nystagmus	1421	CRYGD
HP:0000639	Nystagmus	10682	EBP
HP:0000639	Nystagmus	51660	MPC1
HP:0000639	Nystagmus	6687	SPG7
HP:0000639	Nystagmus	6736	SRY
HP:0000639	Nystagmus	4729	NDUFV2
HP:0000639	Nystagmus	8913	CACNA1G
HP:0000639	Nystagmus	3798	KIF5A
HP:0000639	Nystagmus	2778	GNAS
HP:0000639	Nystagmus	64218	SEMA4A
HP:0000639	Nystagmus	79600	TCTN1
HP:0000639	Nystagmus	57167	SALL4
HP:0000639	Nystagmus	346007	EYS
HP:0000639	Nystagmus	255928	SYT14
HP:0000639	Nystagmus	9150	CTDP1
HP:0000639	Nystagmus	2006	ELN
HP:0000639	Nystagmus	23522	KAT6B
HP:0000639	Nystagmus	5119	CHMP1A
HP:0001361	Nystagmus-induced head nodding	2006	ELN
HP:0001513	Obesity	7681	MKRN3
HP:0001513	Obesity	5148	PDE6G
HP:0001513	Obesity	6736	SRY
HP:0001513	Obesity	6295	SAG
HP:0001513	Obesity	2778	GNAS
HP:0001513	Obesity	64218	SEMA4A
HP:0001513	Obesity	83696	TRAPPC9
HP:0001513	Obesity	6899	TBX1
HP:0001513	Obesity	80208	SPG11
HP:0001513	Obesity	23394	ADNP
HP:0001513	Obesity	346007	EYS
HP:0001513	Obesity	1954	MEGF8
HP:0001513	Obesity	79813	EHMT1
HP:0001513	Obesity	2006	ELN
HP:0000722	Obsessive-compulsive behavior	79813	EHMT1
HP:0000722	Obsessive-compulsive behavior	1861	TOR1A
HP:0000722	Obsessive-compulsive behavior	2006	ELN
HP:0000722	Obsessive-compulsive behavior	23394	ADNP
HP:0000722	Obsessive-compulsive behavior	613	BCR
HP:0000722	Obsessive-compulsive behavior	6899	TBX1
HP:0008770	Obsessive-compulsive trait	2006	ELN
HP:0006536	Obstructive lung disease	1536	CYBB
HP:0006536	Obstructive lung disease	6899	TBX1
HP:0011151	Obtundation status	2566	GABRG2
HP:0002436	Occipital meningocele	6899	TBX1
HP:0007271	Occipital myelomeningocele	6899	TBX1
HP:0001107	Ocular albinism	1130	LYST
HP:0001107	Ocular albinism	3257	HPS1
HP:0000657	Oculomotor apraxia	4361	MRE11
HP:0000657	Oculomotor apraxia	613	BCR
HP:0000657	Oculomotor apraxia	79600	TCTN1
HP:0012246	Oculomotor nerve palsy	1123	CHN1
HP:0001341	Olfactory lobe agenesis	1908	EDN3
HP:0000677	Oligodontia	7341	SUMO1
HP:0001562	Oligohydramnios	2189	FANCG
HP:0001562	Oligohydramnios	10516	FBLN5
HP:0001562	Oligohydramnios	8516	ITGA8
HP:0001562	Oligohydramnios	57697	FANCM
HP:0000876	Oligomenorrhea	7681	MKRN3
HP:0000876	Oligomenorrhea	5506	PPP1R3A
HP:0000876	Oligomenorrhea	2778	GNAS
HP:0000798	Oligospermia	8287	USP9Y
HP:0001539	Omphalocele	9361	LONP1
HP:0003383	Onion bulb formation	6305	SBF1
HP:0003383	Onion bulb formation	81846	SBF2
HP:0003674	Onset	10300	KATNB1
HP:0003674	Onset	57592	ZNF687
HP:0003674	Onset	10518	CIB2
HP:0003674	Onset	6443	SGCB
HP:0003674	Onset	8516	ITGA8
HP:0003674	Onset	80208	SPG11
HP:0003674	Onset	10617	STAMBP
HP:0003674	Onset	6531	SLC6A3
HP:0003674	Onset	80270	HSD3B7
HP:0003674	Onset	6575	SLC20A2
HP:0003674	Onset	10682	EBP
HP:0003674	Onset	445	ASS1
HP:0003674	Onset	51660	MPC1
HP:0003674	Onset	113179	ADAT3
HP:0003674	Onset	6687	SPG7
HP:0003674	Onset	2778	GNAS
HP:0003674	Onset	23394	ADNP
HP:0003674	Onset	283489	CHAMP1
HP:0003674	Onset	2934	GSN
HP:0003674	Onset	9150	CTDP1
HP:0003674	Onset	5119	CHMP1A
HP:0003674	Onset	7443	VRK1
HP:0003674	Onset	9526	MPDU1
HP:0003674	Onset	3394	IRF8
HP:0003674	Onset	79188	TMEM43
HP:0003674	Onset	3426	CFI
HP:0003674	Onset	5506	PPP1R3A
HP:0003674	Onset	1536	CYBB
HP:0003674	Onset	54820	NDE1
HP:0003674	Onset	1605	DAG1
HP:0003674	Onset	5723	PSPH
HP:0003674	Onset	3798	KIF5A
HP:0003674	Onset	83696	TRAPPC9
HP:0003674	Onset	9997	SCO2
HP:0003674	Onset	3908	LAMA2
HP:0003674	Onset	79719	AAGAB
HP:0003674	Onset	1917	EEF1A2
HP:0003674	Onset	81846	SBF2
HP:0003674	Onset	51128	SAR1B
HP:0012203	Onychomycosis	23534	TNPO3
HP:0007759	Opacification of the corneal stroma	2778	GNAS
HP:0007759	Opacification of the corneal stroma	3949	LDLR
HP:0010807	Open bite	2006	ELN
HP:0010807	Open bite	2778	GNAS
HP:0000194	Open mouth	6660	SOX5
HP:0000194	Open mouth	3908	LAMA2
HP:0000194	Open mouth	2006	ELN
HP:0000194	Open mouth	283489	CHAMP1
HP:0000194	Open mouth	6899	TBX1
HP:0000597	Ophthalmoparesis	5148	PDE6G
HP:0000597	Ophthalmoparesis	1123	CHN1
HP:0000597	Ophthalmoparesis	6295	SAG
HP:0000597	Ophthalmoparesis	6305	SBF1
HP:0000597	Ophthalmoparesis	64218	SEMA4A
HP:0000597	Ophthalmoparesis	3908	LAMA2
HP:0000597	Ophthalmoparesis	57167	SALL4
HP:0000597	Ophthalmoparesis	346007	EYS
HP:0000602	Ophthalmoplegia	5148	PDE6G
HP:0000602	Ophthalmoplegia	3908	LAMA2
HP:0000602	Ophthalmoplegia	57167	SALL4
HP:0000602	Ophthalmoplegia	346007	EYS
HP:0000602	Ophthalmoplegia	6295	SAG
HP:0000602	Ophthalmoplegia	6305	SBF1
HP:0000602	Ophthalmoplegia	64218	SEMA4A
HP:0002179	Opisthotonus	56922	MCCC1
HP:0000648	Optic atrophy	5148	PDE6G
HP:0000648	Optic atrophy	6295	SAG
HP:0000648	Optic atrophy	9526	MPDU1
HP:0000648	Optic atrophy	10617	STAMBP
HP:0000648	Optic atrophy	410	ARSA
HP:0000648	Optic atrophy	10682	EBP
HP:0000648	Optic atrophy	4594	MUT
HP:0000648	Optic atrophy	6660	SOX5
HP:0000648	Optic atrophy	6687	SPG7
HP:0000648	Optic atrophy	1605	DAG1
HP:0000648	Optic atrophy	2778	GNAS
HP:0000648	Optic atrophy	64218	SEMA4A
HP:0000648	Optic atrophy	6899	TBX1
HP:0000648	Optic atrophy	346007	EYS
HP:0007766	Optic disc hypoplasia	57167	SALL4
HP:0007766	Optic disc hypoplasia	6295	SAG
HP:0007766	Optic disc hypoplasia	1123	CHN1
HP:0000543	Optic disc pallor	5148	PDE6G
HP:0000543	Optic disc pallor	4729	NDUFV2
HP:0000588	Optic nerve coloboma	57167	SALL4
HP:0001138	Optic neuropathy	3949	LDLR
HP:0001138	Optic neuropathy	1181	CLCN2
HP:0000202	Oral cleft	1123	CHN1
HP:0000202	Oral cleft	8318	CDC45
HP:0000202	Oral cleft	2189	FANCG
HP:0000202	Oral cleft	57492	ARID1B
HP:0000202	Oral cleft	7341	SUMO1
HP:0000202	Oral cleft	8516	ITGA8
HP:0000202	Oral cleft	6496	SIX3
HP:0000202	Oral cleft	57697	FANCM
HP:0000202	Oral cleft	10617	STAMBP
HP:0000202	Oral cleft	7546	ZIC2
HP:0000202	Oral cleft	4488	MSX2
HP:0000202	Oral cleft	9775	EIF4A3
HP:0000202	Oral cleft	1605	DAG1
HP:0000202	Oral cleft	613	BCR
HP:0000202	Oral cleft	83696	TRAPPC9
HP:0000202	Oral cleft	79600	TCTN1
HP:0000202	Oral cleft	6899	TBX1
HP:0000202	Oral cleft	126792	B3GALT6
HP:0000202	Oral cleft	10084	PQBP1
HP:0000202	Oral cleft	1909	EDNRA
HP:0000202	Oral cleft	9184	BUB3
HP:0000202	Oral cleft	23522	KAT6B
HP:0000155	Oral ulcer	7128	TNFAIP3
HP:0001992	Organic aciduria	3242	HPD
HP:0001992	Organic aciduria	51660	MPC1
HP:0001992	Organic aciduria	56922	MCCC1
HP:0001992	Organic aciduria	4594	MUT
HP:0003218	Oroticaciduria	445	ASS1
HP:0001278	Orthostatic hypotension	23534	TNPO3
HP:0002758	Osteoarthritis	2778	GNAS
HP:0002758	Osteoarthritis	57592	ZNF687
HP:0002797	Osteolysis	118429	ANTXR2
HP:0002797	Osteolysis	9184	BUB3
HP:0100246	Osteoma	2778	GNAS
HP:0025027	Osteoma cutis	2778	GNAS
HP:0002749	Osteomalacia	118429	ANTXR2
HP:0002754	Osteomyelitis	1536	CYBB
HP:0002754	Osteomyelitis	56262	LRRC8A
HP:0000938	Osteopenia	7681	MKRN3
HP:0000938	Osteopenia	126792	B3GALT6
HP:0000938	Osteopenia	118429	ANTXR2
HP:0000938	Osteopenia	2006	ELN
HP:0000938	Osteopenia	2778	GNAS
HP:0000939	Osteoporosis	7681	MKRN3
HP:0000939	Osteoporosis	6736	SRY
HP:0000939	Osteoporosis	112752	IFT43
HP:0000939	Osteoporosis	10892	MALT1
HP:0000939	Osteoporosis	118429	ANTXR2
HP:0000939	Osteoporosis	2778	GNAS
HP:0000939	Osteoporosis	10516	FBLN5
HP:0000939	Osteoporosis	7486	WRN
HP:0000939	Osteoporosis	126792	B3GALT6
HP:0000939	Osteoporosis	80270	HSD3B7
HP:0000939	Osteoporosis	9150	CTDP1
HP:0000939	Osteoporosis	2006	ELN
HP:0000939	Osteoporosis	23534	TNPO3
HP:0002669	Osteosarcoma	7486	WRN
HP:0000388	Otitis media	1536	CYBB
HP:0000388	Otitis media	5130	PCYT1A
HP:0000388	Otitis media	6736	SRY
HP:0000388	Otitis media	3426	CFI
HP:0000388	Otitis media	56262	LRRC8A
HP:0000388	Otitis media	2006	ELN
HP:0000388	Otitis media	3561	IL2RG
HP:0000388	Otitis media	6899	TBX1
HP:0000300	Oval face	126792	B3GALT6
HP:0000138	Ovarian cyst	5506	PPP1R3A
HP:0000138	Ovarian cyst	118429	ANTXR2
HP:0000138	Ovarian cyst	6736	SRY
HP:0000138	Ovarian cyst	2006	ELN
HP:0000138	Ovarian cyst	2778	GNAS
HP:0000149	Ovarian gonadoblastoma	6736	SRY
HP:0100615	Ovarian neoplasm	4361	MRE11
HP:0100615	Ovarian neoplasm	7486	WRN
HP:0100615	Ovarian neoplasm	6736	SRY
HP:0012887	Ovarian serous cystadenoma	6736	SRY
HP:0000396	Overfolded helix	9361	LONP1
HP:0000396	Overfolded helix	6899	TBX1
HP:0100025	Overfriendliness	2006	ELN
HP:0001548	Overgrowth	10516	FBLN5
HP:0010557	Overlapping fingers	10682	EBP
HP:0001845	Overlapping toe	6660	SOX5
HP:0001845	Overlapping toe	10682	EBP
HP:0002623	Overriding aorta	2006	ELN
HP:0003309	Ovoid thoracolumbar vertebrae	2799	GNS
HP:0003300	Ovoid vertebral bodies	126792	B3GALT6
HP:0003300	Ovoid vertebral bodies	5130	PCYT1A
HP:0003300	Ovoid vertebral bodies	2799	GNS
HP:0012861	Ovotestis	6736	SRY
HP:0000263	Oxycephaly	1954	MEGF8
HP:0003679	Pace of progression	118429	ANTXR2
HP:0003679	Pace of progression	6305	SBF1
HP:0003679	Pace of progression	8913	CACNA1G
HP:0003679	Pace of progression	3798	KIF5A
HP:0003679	Pace of progression	2778	GNAS
HP:0003679	Pace of progression	2799	GNS
HP:0003679	Pace of progression	4361	MRE11
HP:0003679	Pace of progression	7443	VRK1
HP:0003679	Pace of progression	7957	EPM2A
HP:0003679	Pace of progression	80208	SPG11
HP:0003679	Pace of progression	79188	TMEM43
HP:0003679	Pace of progression	6531	SLC6A3
HP:0003679	Pace of progression	6575	SLC20A2
HP:0003679	Pace of progression	255928	SYT14
HP:0001302	Pachygyria	54820	NDE1
HP:0001302	Pachygyria	10300	KATNB1
HP:0001302	Pachygyria	3908	LAMA2
HP:0001302	Pachygyria	1605	DAG1
HP:0001302	Pachygyria	23417	MLYCD
HP:0012531	Pain	5156	PDGFRA
HP:0012531	Pain	3257	HPS1
HP:0012531	Pain	57592	ZNF687
HP:0012531	Pain	26873	OPLAH
HP:0012531	Pain	79188	TMEM43
HP:0012531	Pain	10599	SLCO1B1
HP:0012531	Pain	4594	MUT
HP:0012531	Pain	10892	MALT1
HP:0012531	Pain	2778	GNAS
HP:0012531	Pain	6899	TBX1
HP:0012531	Pain	811	CALR
HP:0012531	Pain	3949	LDLR
HP:0012531	Pain	1908	EDN3
HP:0012531	Pain	23417	MLYCD
HP:0012531	Pain	6049	RNF6
HP:0012531	Pain	4023	LPL
HP:0012531	Pain	2006	ELN
HP:0007469	Palmoplantar cutis gyrata	126792	B3GALT6
HP:0000982	Palmoplantar keratoderma	79719	AAGAB
HP:0000982	Palmoplantar keratoderma	4607	MYBPC3
HP:0000661	Palpebral fissure narrowing on adduction	57167	SALL4
HP:0001962	Palpitations	781	CACNA2D1
HP:0001962	Palpitations	79188	TMEM43
HP:0001733	Pancreatitis	4023	LPL
HP:0001733	Pancreatitis	4594	MUT
HP:0003139	Panhypogammaglobulinemia	4261	CIITA
HP:0025269	Panic attack	1861	TOR1A
HP:0012740	Papilloma	56262	LRRC8A
HP:0200034	Papule	118429	ANTXR2
HP:0200034	Papule	2778	GNAS
HP:0003470	Paralysis	2006	ELN
HP:0011999	Paranoia	6899	TBX1
HP:0002385	Paraparesis	55532	SLC30A10
HP:0010550	Paraplegia	6687	SPG7
HP:0010550	Paraplegia	126792	B3GALT6
HP:0010550	Paraplegia	80208	SPG11
HP:0010550	Paraplegia	3798	KIF5A
HP:0010551	Paraplegia/paraparesis	6687	SPG7
HP:0010551	Paraplegia/paraparesis	126792	B3GALT6
HP:0010551	Paraplegia/paraparesis	80208	SPG11
HP:0010551	Paraplegia/paraparesis	3798	KIF5A
HP:0010551	Paraplegia/paraparesis	55532	SLC30A10
HP:0008211	Parathyroid agenesis	6899	TBX1
HP:0011768	Parathyroid dysgenesis	6899	TBX1
HP:0000860	Parathyroid hypoplasia	6899	TBX1
HP:0003401	Paresthesia	811	CALR
HP:0003401	Paresthesia	1130	LYST
HP:0003401	Paresthesia	9150	CTDP1
HP:0003401	Paresthesia	2778	GNAS
HP:0002697	Parietal foramina	4488	MSX2
HP:0001300	Parkinsonism	6531	SLC6A3
HP:0001300	Parkinsonism	6575	SLC20A2
HP:0001300	Parkinsonism	3798	KIF5A
HP:0001300	Parkinsonism	55532	SLC30A10
HP:0012763	Paroxysmal dyspnea	2006	ELN
HP:0001338	Partial agenesis of the corpus callosum	57492	ARID1B
HP:0001338	Partial agenesis of the corpus callosum	10300	KATNB1
HP:0011365	Patchy hypopigmentation of hair	1123	CHN1
HP:0011365	Patchy hypopigmentation of hair	1908	EDN3
HP:0011365	Patchy hypopigmentation of hair	7486	WRN
HP:0006443	Patellar aplasia	23522	KAT6B
HP:0006443	Patellar aplasia	8318	CDC45
HP:0002999	Patellar dislocation	2006	ELN
HP:0002999	Patellar dislocation	23522	KAT6B
HP:0002999	Patellar dislocation	6899	TBX1
HP:0002999	Patellar dislocation	10682	EBP
HP:0001643	Patent ductus arteriosus	1837	DTNA
HP:0001643	Patent ductus arteriosus	57697	FANCM
HP:0001643	Patent ductus arteriosus	2189	FANCG
HP:0001643	Patent ductus arteriosus	57492	ARID1B
HP:0001643	Patent ductus arteriosus	1954	MEGF8
HP:0001643	Patent ductus arteriosus	2006	ELN
HP:0001643	Patent ductus arteriosus	23522	KAT6B
HP:0001643	Patent ductus arteriosus	6899	TBX1
HP:0001655	Patent foramen ovale	10617	STAMBP
HP:0002756	Pathologic fracture	126792	B3GALT6
HP:0002756	Pathologic fracture	2778	GNAS
HP:0005258	Pectoral muscle hypoplasia/aplasia	57167	SALL4
HP:0008998	Pectoralis hypoplasia	57167	SALL4
HP:0008953	Pectoralis major hypoplasia	57167	SALL4
HP:0000768	Pectus carinatum	6660	SOX5
HP:0000768	Pectus carinatum	1954	MEGF8
HP:0000768	Pectus carinatum	23522	KAT6B
HP:0000767	Pectus excavatum	10516	FBLN5
HP:0000767	Pectus excavatum	126792	B3GALT6
HP:0000767	Pectus excavatum	6736	SRY
HP:0000767	Pectus excavatum	10084	PQBP1
HP:0000767	Pectus excavatum	112752	IFT43
HP:0000767	Pectus excavatum	1954	MEGF8
HP:0000767	Pectus excavatum	2006	ELN
HP:0000767	Pectus excavatum	23522	KAT6B
HP:0008988	Pelvic girdle muscle atrophy	6443	SGCB
HP:0000125	Pelvic kidney	2006	ELN
HP:0000808	Penoscrotal hypospadias	6736	SRY
HP:0004398	Peptic ulcer	57492	ARID1B
HP:0004398	Peptic ulcer	2006	ELN
HP:0100277	Periauricular skin pits	10370	CITED2
HP:0100277	Periauricular skin pits	6899	TBX1
HP:0100277	Periauricular skin pits	1909	EDNRA
HP:0011682	Perimembranous ventricular septal defect	10370	CITED2
HP:0000704	Periodontitis	1130	LYST
HP:0100539	Periorbital edema	2006	ELN
HP:0000629	Periorbital fullness	2006	ELN
HP:0004950	Peripheral arterial stenosis	2006	ELN
HP:0004950	Peripheral arterial stenosis	3949	LDLR
HP:0000764	Peripheral axonal degeneration	10516	FBLN5
HP:0000764	Peripheral axonal degeneration	80208	SPG11
HP:0000764	Peripheral axonal degeneration	9150	CTDP1
HP:0003477	Peripheral axonal neuropathy	10516	FBLN5
HP:0003477	Peripheral axonal neuropathy	9150	CTDP1
HP:0003477	Peripheral axonal neuropathy	80208	SPG11
HP:0011096	Peripheral demyelination	410	ARSA
HP:0011096	Peripheral demyelination	81846	SBF2
HP:0011096	Peripheral demyelination	9150	CTDP1
HP:0007182	Peripheral hypomyelination	9150	CTDP1
HP:0009830	Peripheral neuropathy	1130	LYST
HP:0009830	Peripheral neuropathy	6305	SBF1
HP:0009830	Peripheral neuropathy	55532	SLC30A10
HP:0009830	Peripheral neuropathy	10516	FBLN5
HP:0009830	Peripheral neuropathy	80208	SPG11
HP:0009830	Peripheral neuropathy	80270	HSD3B7
HP:0009830	Peripheral neuropathy	410	ARSA
HP:0009830	Peripheral neuropathy	51660	MPC1
HP:0009830	Peripheral neuropathy	7681	MKRN3
HP:0009830	Peripheral neuropathy	6687	SPG7
HP:0009830	Peripheral neuropathy	8913	CACNA1G
HP:0009830	Peripheral neuropathy	3798	KIF5A
HP:0009830	Peripheral neuropathy	2778	GNAS
HP:0009830	Peripheral neuropathy	811	CALR
HP:0009830	Peripheral neuropathy	3908	LAMA2
HP:0009830	Peripheral neuropathy	283489	CHAMP1
HP:0009830	Peripheral neuropathy	2934	GSN
HP:0009830	Peripheral neuropathy	81846	SBF2
HP:0009830	Peripheral neuropathy	51128	SAR1B
HP:0009830	Peripheral neuropathy	9150	CTDP1
HP:0008011	Peripheral opacification of the cornea	3949	LDLR
HP:0030067	Peripheral primitive neuroectodermal neoplasm	1908	EDN3
HP:0004969	Peripheral pulmonary artery stenosis	112752	IFT43
HP:0004969	Peripheral pulmonary artery stenosis	2006	ELN
HP:0007994	Peripheral visual field loss	5130	PCYT1A
HP:0007994	Peripheral visual field loss	64218	SEMA4A
HP:0007165	Periventricular gray matter heterotopia	23522	KAT6B
HP:0006335	Persistence of primary teeth	79813	EHMT1
HP:0012075	Personality disorder	1861	TOR1A
HP:0001761	Pes cavus	10516	FBLN5
HP:0001761	Pes cavus	6687	SPG7
HP:0001761	Pes cavus	80208	SPG11
HP:0001761	Pes cavus	10084	PQBP1
HP:0001761	Pes cavus	81846	SBF2
HP:0001761	Pes cavus	9150	CTDP1
HP:0001761	Pes cavus	3798	KIF5A
HP:0001761	Pes cavus	5119	CHMP1A
HP:0001763	Pes planus	6660	SOX5
HP:0001763	Pes planus	126792	B3GALT6
HP:0001763	Pes planus	57167	SALL4
HP:0001763	Pes planus	57697	FANCM
HP:0001763	Pes planus	613	BCR
HP:0001763	Pes planus	2189	FANCG
HP:0001763	Pes planus	6305	SBF1
HP:0001763	Pes planus	2006	ELN
HP:0008081	Pes valgus	9361	LONP1
HP:0004848	Ph-positive acute lymphoblastic leukemia	613	BCR
HP:0003812	Phenotypic variability	5230	PGK1
HP:0003812	Phenotypic variability	78987	CRELD1
HP:0003812	Phenotypic variability	57492	ARID1B
HP:0003812	Phenotypic variability	55532	SLC30A10
HP:0003812	Phenotypic variability	57609	DIP2B
HP:0003812	Phenotypic variability	4361	MRE11
HP:0003812	Phenotypic variability	80208	SPG11
HP:0003812	Phenotypic variability	25939	SAMHD1
HP:0003812	Phenotypic variability	6496	SIX3
HP:0003812	Phenotypic variability	10682	EBP
HP:0003812	Phenotypic variability	445	ASS1
HP:0003812	Phenotypic variability	51660	MPC1
HP:0003812	Phenotypic variability	6660	SOX5
HP:0003812	Phenotypic variability	2566	GABRG2
HP:0003812	Phenotypic variability	1605	DAG1
HP:0003812	Phenotypic variability	56922	MCCC1
HP:0003812	Phenotypic variability	4729	NDUFV2
HP:0003812	Phenotypic variability	118429	ANTXR2
HP:0003812	Phenotypic variability	3798	KIF5A
HP:0003812	Phenotypic variability	2778	GNAS
HP:0003812	Phenotypic variability	1861	TOR1A
HP:0003812	Phenotypic variability	57167	SALL4
HP:0001741	Phimosis	10084	PQBP1
HP:0002183	Phonophobia	2006	ELN
HP:0000613	Photophobia	5130	PCYT1A
HP:0000613	Photophobia	5148	PDE6G
HP:0000613	Photophobia	1130	LYST
HP:0000613	Photophobia	346007	EYS
HP:0000613	Photophobia	6295	SAG
HP:0000613	Photophobia	64218	SEMA4A
HP:0000201	Pierre-Robin sequence	9775	EIF4A3
HP:0000201	Pierre-Robin sequence	6899	TBX1
HP:0000580	Pigmentary retinopathy	346007	EYS
HP:0000580	Pigmentary retinopathy	6295	SAG
HP:0003777	Pili torti	7486	WRN
HP:0002893	Pituitary adenoma	2778	GNAS
HP:0011760	Pituitary growth hormone cell adenoma	2778	GNAS
HP:0006767	Pituitary prolactin cell adenoma	2778	GNAS
HP:0008227	Pituitary resistance to thyroid hormone	2778	GNAS
HP:0001357	Plagiocephaly	25939	SAMHD1
HP:0001357	Plagiocephaly	57492	ARID1B
HP:0001357	Plagiocephaly	1123	CHN1
HP:0002691	Platybasia	6899	TBX1
HP:0000926	Platyspondyly	5130	PCYT1A
HP:0000926	Platyspondyly	126792	B3GALT6
HP:0002090	Pneumonia	1536	CYBB
HP:0002090	Pneumonia	3561	IL2RG
HP:0002107	Pneumothorax	2006	ELN
HP:0004447	Poikilocytosis	51128	SAR1B
HP:0000307	Pointed chin	2006	ELN
HP:0000307	Pointed chin	613	BCR
HP:0000307	Pointed chin	283489	CHAMP1
HP:0005764	Polyarticular arthritis	7128	TNFAIP3
HP:0005195	Polyarticular arthropathy	7128	TNFAIP3
HP:0000113	Polycystic kidney dysplasia	6899	TBX1
HP:0000147	Polycystic ovaries	5506	PPP1R3A
HP:0000147	Polycystic ovaries	118429	ANTXR2
HP:0000147	Polycystic ovaries	6736	SRY
HP:0000147	Polycystic ovaries	2006	ELN
HP:0000147	Polycystic ovaries	2778	GNAS
HP:0001901	Polycythemia	55532	SLC30A10
HP:0010442	Polydactyly	57167	SALL4
HP:0010442	Polydactyly	1123	CHN1
HP:0010442	Polydactyly	112752	IFT43
HP:0010442	Polydactyly	8318	CDC45
HP:0010442	Polydactyly	1954	MEGF8
HP:0010442	Polydactyly	10682	EBP
HP:0010442	Polydactyly	79600	TCTN1
HP:0010442	Polydactyly	6899	TBX1
HP:0010982	Polygenic inheritance	613	BCR
HP:0001561	Polyhydramnios	64321	SOX17
HP:0001561	Polyhydramnios	9321	TRIP11
HP:0001561	Polyhydramnios	9361	LONP1
HP:0001561	Polyhydramnios	9652	TTC37
HP:0001561	Polyhydramnios	10682	EBP
HP:0001561	Polyhydramnios	9184	BUB3
HP:0001561	Polyhydramnios	23522	KAT6B
HP:0001561	Polyhydramnios	6899	TBX1
HP:0002126	Polymicrogyria	10300	KATNB1
HP:0002126	Polymicrogyria	1605	DAG1
HP:0002126	Polymicrogyria	27286	SRPX2
HP:0002126	Polymicrogyria	79600	TCTN1
HP:0001271	Polyneuropathy	2934	GSN
HP:0010735	Polyostotic fibrous dysplasia	2778	GNAS
HP:0002591	Polyphagia	7681	MKRN3
HP:0002591	Polyphagia	2778	GNAS
HP:0001748	Polysplenia	1954	MEGF8
HP:0006879	Pontocerebellar atrophy	3908	LAMA2
HP:0004396	Poor appetite	613	BCR
HP:0002370	Poor coordination	2006	ELN
HP:0007010	Poor fine motor coordination	7681	MKRN3
HP:0007010	Poor fine motor coordination	55532	SLC30A10
HP:0007015	Poor gross motor coordination	7681	MKRN3
HP:0002421	Poor head control	1605	DAG1
HP:0002275	Poor motor coordination	7681	MKRN3
HP:0002275	Poor motor coordination	55532	SLC30A10
HP:0002465	Poor speech	55180	LINS1
HP:0002465	Poor speech	5119	CHMP1A
HP:0002033	Poor suck	7681	MKRN3
HP:0002033	Poor suck	10084	PQBP1
HP:0002132	Porencephalic cyst	25939	SAMHD1
HP:0001409	Portal hypertension	2006	ELN
HP:0001409	Portal hypertension	23534	TNPO3
HP:0005656	Positional foot deformity	54820	NDE1
HP:0005656	Positional foot deformity	9775	EIF4A3
HP:0005656	Positional foot deformity	1123	CHN1
HP:0005656	Positional foot deformity	6899	TBX1
HP:0005656	Positional foot deformity	8516	ITGA8
HP:0005656	Positional foot deformity	126792	B3GALT6
HP:0005656	Positional foot deformity	57167	SALL4
HP:0005656	Positional foot deformity	1954	MEGF8
HP:0005656	Positional foot deformity	81846	SBF2
HP:0005656	Positional foot deformity	10682	EBP
HP:0005656	Positional foot deformity	9150	CTDP1
HP:0005656	Positional foot deformity	79813	EHMT1
HP:0005656	Positional foot deformity	23522	KAT6B
HP:0005656	Positional foot deformity	5119	CHMP1A
HP:0003612	Positive ferric chloride test	10841	FTCD
HP:0001162	Postaxial hand polydactyly	1954	MEGF8
HP:0100259	Postaxial polydactyly	112752	IFT43
HP:0100259	Postaxial polydactyly	1954	MEGF8
HP:0100259	Postaxial polydactyly	10682	EBP
HP:0100259	Postaxial polydactyly	6899	TBX1
HP:0000627	Posterior embryotoxon	2006	ELN
HP:0000627	Posterior embryotoxon	6899	TBX1
HP:0012123	Posterior uveitis	10892	MALT1
HP:0000358	Posteriorly rotated ears	6660	SOX5
HP:0000358	Posteriorly rotated ears	1605	DAG1
HP:0000358	Posteriorly rotated ears	6736	SRY
HP:0000358	Posteriorly rotated ears	8318	CDC45
HP:0000358	Posteriorly rotated ears	57492	ARID1B
HP:0000358	Posteriorly rotated ears	83737	ITCH
HP:0000358	Posteriorly rotated ears	1908	EDN3
HP:0000358	Posteriorly rotated ears	2006	ELN
HP:0000358	Posteriorly rotated ears	9184	BUB3
HP:0000358	Posteriorly rotated ears	23522	KAT6B
HP:0008897	Postnatal growth retardation	5130	PCYT1A
HP:0008897	Postnatal growth retardation	57167	SALL4
HP:0008897	Postnatal growth retardation	5723	PSPH
HP:0008897	Postnatal growth retardation	57492	ARID1B
HP:0008897	Postnatal growth retardation	10682	EBP
HP:0005484	Postnatal microcephaly	83696	TRAPPC9
HP:0005484	Postnatal microcephaly	1917	EEF1A2
HP:0005484	Postnatal microcephaly	5119	CHMP1A
HP:0002172	Postural instability	55532	SLC30A10
HP:0002172	Postural instability	6575	SLC20A2
HP:0002009	Potter facies	8516	ITGA8
HP:0004467	Preauricular pit	10370	CITED2
HP:0004467	Preauricular pit	6899	TBX1
HP:0004467	Preauricular pit	1909	EDNRA
HP:0000384	Preauricular skin tag	57492	ARID1B
HP:0000384	Preauricular skin tag	1123	CHN1
HP:0000384	Preauricular skin tag	1909	EDNRA
HP:0001841	Preaxial foot polydactyly	1954	MEGF8
HP:0001177	Preaxial hand polydactyly	57167	SALL4
HP:0001177	Preaxial hand polydactyly	1123	CHN1
HP:0100258	Preaxial polydactyly	1954	MEGF8
HP:0100258	Preaxial polydactyly	57167	SALL4
HP:0100258	Preaxial polydactyly	1123	CHN1
HP:0100258	Preaxial polydactyly	8318	CDC45
HP:0004416	Precocious atherosclerosis	3949	LDLR
HP:0000826	Precocious puberty	7681	MKRN3
HP:0000826	Precocious puberty	2006	ELN
HP:0000826	Precocious puberty	2778	GNAS
HP:0100602	Preeclampsia	5506	PPP1R3A
HP:0005177	Premature arteriosclerosis	3949	LDLR
HP:0005177	Premature arteriosclerosis	7486	WRN
HP:0001622	Premature birth	613	BCR
HP:0005181	Premature coronary artery atherosclerosis	3949	LDLR
HP:0002216	Premature graying of hair	2006	ELN
HP:0002216	Premature graying of hair	1908	EDN3
HP:0002216	Premature graying of hair	7486	WRN
HP:0100678	Premature skin wrinkling	57492	ARID1B
HP:0100678	Premature skin wrinkling	10516	FBLN5
HP:0100678	Premature skin wrinkling	2006	ELN
HP:0010314	Premature thelarche	7681	MKRN3
HP:0007495	Prematurely aged appearance	10516	FBLN5
HP:0007495	Prematurely aged appearance	5932	RBBP8
HP:0007495	Prematurely aged appearance	7486	WRN
HP:0007495	Prematurely aged appearance	126792	B3GALT6
HP:0007495	Prematurely aged appearance	1908	EDN3
HP:0007495	Prematurely aged appearance	57492	ARID1B
HP:0007495	Prematurely aged appearance	2006	ELN
HP:0002686	Prenatal maternal abnormality	5506	PPP1R3A
HP:0002686	Prenatal maternal abnormality	2006	ELN
HP:0001557	Prenatal movement abnormality	7681	MKRN3
HP:0001557	Prenatal movement abnormality	100128927	ZBTB42
HP:0008207	Primary adrenal insufficiency	56246	MRAP
HP:0000786	Primary amenorrhea	7681	MKRN3
HP:0000786	Primary amenorrhea	8516	ITGA8
HP:0000786	Primary amenorrhea	6736	SRY
HP:0000786	Primary amenorrhea	5506	PPP1R3A
HP:0000786	Primary amenorrhea	9150	CTDP1
HP:0000786	Primary amenorrhea	51199	NIN
HP:0008193	Primary gonadal insufficiency	6736	SRY
HP:0001579	Primary hypercorticolism	2778	GNAS
HP:0030406	Primary peritoneal carcinoma	4361	MRE11
HP:0030065	Primitive neuroectodermal tumor	1908	EDN3
HP:0012736	Profound global developmental delay	54820	NDE1
HP:0012715	Profound hearing impairment	10518	CIB2
HP:0011476	Profound sensorineural hearing impairment	10518	CIB2
HP:0005328	Progeroid facial appearance	126792	B3GALT6
HP:0005328	Progeroid facial appearance	7486	WRN
HP:0003676	Progressive	118429	ANTXR2
HP:0003676	Progressive	6305	SBF1
HP:0003676	Progressive	3798	KIF5A
HP:0003676	Progressive	2778	GNAS
HP:0003676	Progressive	2799	GNS
HP:0003676	Progressive	4361	MRE11
HP:0003676	Progressive	7443	VRK1
HP:0003676	Progressive	80208	SPG11
HP:0003676	Progressive	6531	SLC6A3
HP:0003676	Progressive	6575	SLC20A2
HP:0005876	Progressive flexion contractures	118429	ANTXR2
HP:0001730	Progressive hearing impairment	4646	MYO6
HP:0006980	Progressive leukoencephalopathy	3798	KIF5A
HP:0004481	Progressive macrocephaly	4729	NDUFV2
HP:0000253	Progressive microcephaly	51660	MPC1
HP:0000253	Progressive microcephaly	10617	STAMBP
HP:0000253	Progressive microcephaly	8318	CDC45
HP:0002344	Progressive neurologic deterioration	7957	EPM2A
HP:0007675	Progressive night blindness	346007	EYS
HP:0007675	Progressive night blindness	6295	SAG
HP:0007675	Progressive night blindness	5148	PDE6G
HP:0007675	Progressive night blindness	64218	SEMA4A
HP:0007133	Progressive peripheral neuropathy	410	ARSA
HP:0007133	Progressive peripheral neuropathy	1130	LYST
HP:0000408	Progressive sensorineural hearing impairment	4646	MYO6
HP:0000529	Progressive visual loss	5130	PCYT1A
HP:0000529	Progressive visual loss	64218	SEMA4A
HP:0008202	Prolactin deficiency	2778	GNAS
HP:0000870	Prolactin excess	2778	GNAS
HP:0040278	Prolactinoma	2778	GNAS
HP:0003137	Prolinuria	26873	OPLAH
HP:0006677	Prolonged QRS complex	79188	TMEM43
HP:0001657	Prolonged QT interval	9992	KCNE2
HP:0001657	Prolonged QT interval	6736	SRY
HP:0001657	Prolonged QT interval	2778	GNAS
HP:0003010	Prolonged bleeding time	2778	GNAS
HP:0003010	Prolonged bleeding time	811	CALR
HP:0003010	Prolonged bleeding time	3257	HPS1
HP:0011220	Prominent forehead	126792	B3GALT6
HP:0011220	Prominent forehead	23394	ADNP
HP:0011220	Prominent forehead	9652	TTC37
HP:0011220	Prominent forehead	2799	GNS
HP:0006237	Prominent interphalangeal joints	57492	ARID1B
HP:0000426	Prominent nasal bridge	54820	NDE1
HP:0000426	Prominent nasal bridge	613	BCR
HP:0000426	Prominent nasal bridge	1908	EDN3
HP:0000426	Prominent nasal bridge	10682	EBP
HP:0000426	Prominent nasal bridge	23522	KAT6B
HP:0000426	Prominent nasal bridge	79600	TCTN1
HP:0000426	Prominent nasal bridge	6899	TBX1
HP:0000448	Prominent nose	23522	KAT6B
HP:0000448	Prominent nose	5932	RBBP8
HP:0000448	Prominent nose	9775	EIF4A3
HP:0000448	Prominent nose	51199	NIN
HP:0000269	Prominent occiput	83737	ITCH
HP:0000269	Prominent occiput	23522	KAT6B
HP:0000269	Prominent occiput	112752	IFT43
HP:0007394	Prominent superficial blood vessels	5506	PPP1R3A
HP:0001015	Prominent superficial veins	5506	PPP1R3A
HP:0003508	Proportionate short stature	5130	PCYT1A
HP:0003508	Proportionate short stature	126792	B3GALT6
HP:0003508	Proportionate short stature	57167	SALL4
HP:0003508	Proportionate short stature	9321	TRIP11
HP:0003508	Proportionate short stature	8318	CDC45
HP:0003508	Proportionate short stature	57492	ARID1B
HP:0003508	Proportionate short stature	118429	ANTXR2
HP:0003508	Proportionate short stature	23522	KAT6B
HP:0003508	Proportionate short stature	51199	NIN
HP:0000520	Proptosis	83737	ITCH
HP:0000520	Proptosis	54820	NDE1
HP:0000520	Proptosis	126792	B3GALT6
HP:0000520	Proptosis	57697	FANCM
HP:0000520	Proptosis	8318	CDC45
HP:0000520	Proptosis	10370	CITED2
HP:0000520	Proptosis	2189	FANCG
HP:0000520	Proptosis	9652	TTC37
HP:0000520	Proptosis	23522	KAT6B
HP:0000520	Proptosis	6899	TBX1
HP:0012125	Prostate cancer	4361	MRE11
HP:0100787	Prostate neoplasm	4361	MRE11
HP:0002038	Protein avoidance	445	ASS1
HP:0000093	Proteinuria	7225	TRPC6
HP:0000093	Proteinuria	8516	ITGA8
HP:0000093	Proteinuria	2006	ELN
HP:0000093	Proteinuria	84189	SLITRK6
HP:0004385	Protracted diarrhea	4261	CIITA
HP:0004385	Protracted diarrhea	4645	MYO5B
HP:0000411	Protruding ear	9775	EIF4A3
HP:0000411	Protruding ear	1605	DAG1
HP:0000411	Protruding ear	10084	PQBP1
HP:0000411	Protruding ear	1909	EDNRA
HP:0000411	Protruding ear	1954	MEGF8
HP:0000411	Protruding ear	2006	ELN
HP:0010808	Protruding tongue	3908	LAMA2
HP:0010808	Protruding tongue	79813	EHMT1
HP:0001538	Protuberant abdomen	9321	TRIP11
HP:0007126	Proximal amyotrophy	6443	SGCB
HP:0007126	Proximal amyotrophy	79188	TMEM43
HP:0003701	Proximal muscle weakness	1605	DAG1
HP:0003701	Proximal muscle weakness	79188	TMEM43
HP:0009623	Proximal placement of thumb	9361	LONP1
HP:0009623	Proximal placement of thumb	9775	EIF4A3
HP:0000989	Pruritus	80270	HSD3B7
HP:0000989	Pruritus	5156	PDGFRA
HP:0000989	Pruritus	4645	MYO5B
HP:0000989	Pruritus	3561	IL2RG
HP:0000989	Pruritus	23534	TNPO3
HP:0025356	Pschomotor retardation	2566	GABRG2
HP:0002193	Pseudobulbar behavioral symptoms	80208	SPG11
HP:0002200	Pseudobulbar signs	80208	SPG11
HP:0008242	Pseudohypoaldosteronism	8452	CUL3
HP:0000852	Pseudohypoparathyroidism	2778	GNAS
HP:0000709	Psychosis	7681	MKRN3
HP:0000709	Psychosis	7957	EPM2A
HP:0000709	Psychosis	6575	SLC20A2
HP:0000709	Psychosis	2778	GNAS
HP:0000508	Ptosis	1123	CHN1
HP:0000508	Ptosis	2189	FANCG
HP:0000508	Ptosis	9361	LONP1
HP:0000508	Ptosis	57492	ARID1B
HP:0000508	Ptosis	10516	FBLN5
HP:0000508	Ptosis	25939	SAMHD1
HP:0000508	Ptosis	57697	FANCM
HP:0000508	Ptosis	10617	STAMBP
HP:0000508	Ptosis	10682	EBP
HP:0000508	Ptosis	4729	NDUFV2
HP:0000508	Ptosis	3798	KIF5A
HP:0000508	Ptosis	79600	TCTN1
HP:0000508	Ptosis	6899	TBX1
HP:0000508	Ptosis	57167	SALL4
HP:0000508	Ptosis	23394	ADNP
HP:0000508	Ptosis	23522	KAT6B
HP:0008373	Puberty and gonadal disorders	5148	PDE6G
HP:0008373	Puberty and gonadal disorders	2189	FANCG
HP:0008373	Puberty and gonadal disorders	6295	SAG
HP:0008373	Puberty and gonadal disorders	7486	WRN
HP:0008373	Puberty and gonadal disorders	8516	ITGA8
HP:0008373	Puberty and gonadal disorders	57697	FANCM
HP:0008373	Puberty and gonadal disorders	5506	PPP1R3A
HP:0008373	Puberty and gonadal disorders	7681	MKRN3
HP:0008373	Puberty and gonadal disorders	6736	SRY
HP:0008373	Puberty and gonadal disorders	2778	GNAS
HP:0008373	Puberty and gonadal disorders	64218	SEMA4A
HP:0008373	Puberty and gonadal disorders	346007	EYS
HP:0008373	Puberty and gonadal disorders	9150	CTDP1
HP:0008373	Puberty and gonadal disorders	2006	ELN
HP:0008373	Puberty and gonadal disorders	23522	KAT6B
HP:0008373	Puberty and gonadal disorders	51199	NIN
HP:0002092	Pulmonary arterial hypertension	3908	LAMA2
HP:0004935	Pulmonary artery atresia	78987	CRELD1
HP:0004415	Pulmonary artery stenosis	2006	ELN
HP:0004415	Pulmonary artery stenosis	23522	KAT6B
HP:0004415	Pulmonary artery stenosis	112752	IFT43
HP:0004415	Pulmonary artery stenosis	7486	WRN
HP:0002206	Pulmonary fibrosis	3257	HPS1
HP:0002089	Pulmonary hypoplasia	8516	ITGA8
HP:0002089	Pulmonary hypoplasia	23522	KAT6B
HP:0002089	Pulmonary hypoplasia	8318	CDC45
HP:0002113	Pulmonary infiltrates	10892	MALT1
HP:0002113	Pulmonary infiltrates	5156	PDGFRA
HP:0001642	Pulmonic stenosis	10516	FBLN5
HP:0001642	Pulmonic stenosis	9652	TTC37
HP:0001642	Pulmonic stenosis	126792	B3GALT6
HP:0001642	Pulmonic stenosis	2006	ELN
HP:0010693	Pulverulent cataract	1414	CRYBB1
HP:0007648	Punctate cataract	1414	CRYBB1
HP:0008420	Punctate vertebral calcifications	10682	EBP
HP:0000979	Purpura	6899	TBX1
HP:0012330	Pyelonephritis	3426	CFI
HP:0002021	Pyloric stenosis	1536	CYBB
HP:0002021	Pyloric stenosis	613	BCR
HP:0005522	Pyridoxine-responsive sideroblastic anemia	57697	FANCM
HP:0005522	Pyridoxine-responsive sideroblastic anemia	2189	FANCG
HP:0002986	Radial bowing	126792	B3GALT6
HP:0004059	Radial club hand	57167	SALL4
HP:0009466	Radial deviation of finger	7681	MKRN3
HP:0009486	Radial deviation of the hand	9775	EIF4A3
HP:0009486	Radial deviation of the hand	57167	SALL4
HP:0009485	Radial deviation of the hand or of fingers of the hand	7681	MKRN3
HP:0009485	Radial deviation of the hand or of fingers of the hand	9775	EIF4A3
HP:0009485	Radial deviation of the hand or of fingers of the hand	57167	SALL4
HP:0003048	Radial head subluxation	126792	B3GALT6
HP:0002974	Radioulnar synostosis	57167	SALL4
HP:0002974	Radioulnar synostosis	2006	ELN
HP:0002974	Radioulnar synostosis	23522	KAT6B
HP:0003678	Rapidly progressive	7957	EPM2A
HP:0005224	Rectal abscess	1536	CYBB
HP:0100590	Rectal fistula	57167	SALL4
HP:0100590	Rectal fistula	9361	LONP1
HP:0002035	Rectal prolapse	2006	ELN
HP:0000143	Rectovaginal fistula	57167	SALL4
HP:0000143	Rectovaginal fistula	9361	LONP1
HP:0002724	Recurrent Aspergillus infections	1536	CYBB
HP:0002842	Recurrent Burkholderia cepacia infections	1536	CYBB
HP:0002740	Recurrent E. coli infections	1536	CYBB
HP:0005376	Recurrent Haemophilus influenzae infections	3426	CFI
HP:0002742	Recurrent Klebsiella infections	1536	CYBB
HP:0005430	Recurrent Neisserial infections	3426	CFI
HP:0005430	Recurrent Neisserial infections	730	C7
HP:0002741	Recurrent Serratia marcescens infections	1536	CYBB
HP:0002726	Recurrent Staphylococcus aureus infections	1536	CYBB
HP:0002722	Recurrent abscess formation	1536	CYBB
HP:0002722	Recurrent abscess formation	1130	LYST
HP:0002718	Recurrent bacterial infections	1536	CYBB
HP:0002718	Recurrent bacterial infections	3460	IFNGR2
HP:0002718	Recurrent bacterial infections	10892	MALT1
HP:0002718	Recurrent bacterial infections	118429	ANTXR2
HP:0002718	Recurrent bacterial infections	4261	CIITA
HP:0002718	Recurrent bacterial infections	730	C7
HP:0002718	Recurrent bacterial infections	3426	CFI
HP:0002718	Recurrent bacterial infections	1130	LYST
HP:0007274	Recurrent bacterial meningitis	3561	IL2RG
HP:0005406	Recurrent bacterial skin infections	1536	CYBB
HP:0005406	Recurrent bacterial skin infections	1130	LYST
HP:0002837	Recurrent bronchitis	3561	IL2RG
HP:0100838	Recurrent cutaneous abscess formation	1130	LYST
HP:0011370	Recurrent cutaneous fungal infections	4261	CIITA
HP:0011370	Recurrent cutaneous fungal infections	3561	IL2RG
HP:0002757	Recurrent fractures	10516	FBLN5
HP:0002757	Recurrent fractures	9321	TRIP11
HP:0002757	Recurrent fractures	118429	ANTXR2
HP:0002757	Recurrent fractures	2778	GNAS
HP:0002757	Recurrent fractures	57592	ZNF687
HP:0002841	Recurrent fungal infections	1536	CYBB
HP:0002841	Recurrent fungal infections	4261	CIITA
HP:0002841	Recurrent fungal infections	3561	IL2RG
HP:0002841	Recurrent fungal infections	23534	TNPO3
HP:0005420	Recurrent gram-negative bacterial infections	1536	CYBB
HP:0005420	Recurrent gram-negative bacterial infections	3426	CFI
HP:0005420	Recurrent gram-negative bacterial infections	730	C7
HP:0001988	Recurrent hypoglycemia	56246	MRAP
HP:0002719	Recurrent infections	5130	PCYT1A
HP:0002719	Recurrent infections	1130	LYST
HP:0002719	Recurrent infections	2189	FANCG
HP:0002719	Recurrent infections	57492	ARID1B
HP:0002719	Recurrent infections	4261	CIITA
HP:0002719	Recurrent infections	10516	FBLN5
HP:0002719	Recurrent infections	3394	IRF8
HP:0002719	Recurrent infections	57697	FANCM
HP:0002719	Recurrent infections	3426	CFI
HP:0002719	Recurrent infections	3460	IFNGR2
HP:0002719	Recurrent infections	3561	IL2RG
HP:0002719	Recurrent infections	1536	CYBB
HP:0002719	Recurrent infections	7681	MKRN3
HP:0002719	Recurrent infections	6736	SRY
HP:0002719	Recurrent infections	613	BCR
HP:0002719	Recurrent infections	10892	MALT1
HP:0002719	Recurrent infections	118429	ANTXR2
HP:0002719	Recurrent infections	730	C7
HP:0002719	Recurrent infections	2799	GNS
HP:0002719	Recurrent infections	6899	TBX1
HP:0002719	Recurrent infections	3908	LAMA2
HP:0002719	Recurrent infections	23394	ADNP
HP:0002719	Recurrent infections	283489	CHAMP1
HP:0002719	Recurrent infections	7018	TF
HP:0002719	Recurrent infections	79813	EHMT1
HP:0002719	Recurrent infections	56262	LRRC8A
HP:0002719	Recurrent infections	2006	ELN
HP:0002719	Recurrent infections	23522	KAT6B
HP:0002719	Recurrent infections	23534	TNPO3
HP:0002783	Recurrent lower respiratory tract infections	1536	CYBB
HP:0002783	Recurrent lower respiratory tract infections	4261	CIITA
HP:0002783	Recurrent lower respiratory tract infections	3908	LAMA2
HP:0006946	Recurrent meningitis	3426	CFI
HP:0006946	Recurrent meningitis	3561	IL2RG
HP:0005381	Recurrent meningococcal disease	3426	CFI
HP:0005381	Recurrent meningococcal disease	730	C7
HP:0011274	Recurrent mycobacterial infections	1536	CYBB
HP:0011274	Recurrent mycobacterial infections	3460	IFNGR2
HP:0000403	Recurrent otitis media	5130	PCYT1A
HP:0000403	Recurrent otitis media	6736	SRY
HP:0000403	Recurrent otitis media	2006	ELN
HP:0000403	Recurrent otitis media	3426	CFI
HP:0006532	Recurrent pneumonia	1536	CYBB
HP:0005386	Recurrent protozoan infections	4261	CIITA
HP:0002205	Recurrent respiratory infections	1536	CYBB
HP:0002205	Recurrent respiratory infections	7681	MKRN3
HP:0002205	Recurrent respiratory infections	613	BCR
HP:0002205	Recurrent respiratory infections	1130	LYST
HP:0002205	Recurrent respiratory infections	10892	MALT1
HP:0002205	Recurrent respiratory infections	57492	ARID1B
HP:0002205	Recurrent respiratory infections	4261	CIITA
HP:0002205	Recurrent respiratory infections	2799	GNS
HP:0002205	Recurrent respiratory infections	10516	FBLN5
HP:0002205	Recurrent respiratory infections	3908	LAMA2
HP:0002205	Recurrent respiratory infections	3426	CFI
HP:0002205	Recurrent respiratory infections	283489	CHAMP1
HP:0002205	Recurrent respiratory infections	79813	EHMT1
HP:0002205	Recurrent respiratory infections	56262	LRRC8A
HP:0002205	Recurrent respiratory infections	2006	ELN
HP:0002205	Recurrent respiratory infections	23522	KAT6B
HP:0002205	Recurrent respiratory infections	3561	IL2RG
HP:0011108	Recurrent sinusitis	3426	CFI
HP:0001581	Recurrent skin infections	1536	CYBB
HP:0001581	Recurrent skin infections	4261	CIITA
HP:0001581	Recurrent skin infections	56262	LRRC8A
HP:0001581	Recurrent skin infections	3426	CFI
HP:0001581	Recurrent skin infections	3561	IL2RG
HP:0001581	Recurrent skin infections	1130	LYST
HP:0007499	Recurrent staphylococcal infections	1536	CYBB
HP:0005366	Recurrent streptococcus pneumoniae infections	3426	CFI
HP:0005429	Recurrent systemic pyogenic infections	1130	LYST
HP:0002788	Recurrent upper respiratory tract infections	4261	CIITA
HP:0002788	Recurrent upper respiratory tract infections	3426	CFI
HP:0002788	Recurrent upper respiratory tract infections	3561	IL2RG
HP:0002788	Recurrent upper respiratory tract infections	2799	GNS
HP:0000010	Recurrent urinary tract infections	2189	FANCG
HP:0000010	Recurrent urinary tract infections	10516	FBLN5
HP:0000010	Recurrent urinary tract infections	4261	CIITA
HP:0000010	Recurrent urinary tract infections	2006	ELN
HP:0000010	Recurrent urinary tract infections	57697	FANCM
HP:0000010	Recurrent urinary tract infections	3426	CFI
HP:0000010	Recurrent urinary tract infections	613	BCR
HP:0004429	Recurrent viral infections	1536	CYBB
HP:0004429	Recurrent viral infections	10892	MALT1
HP:0004429	Recurrent viral infections	4261	CIITA
HP:0025337	Red eye	56262	LRRC8A
HP:0025337	Red eye	2778	GNAS
HP:0004349	Reduced bone mineral density	7681	MKRN3
HP:0004349	Reduced bone mineral density	6736	SRY
HP:0004349	Reduced bone mineral density	112752	IFT43
HP:0004349	Reduced bone mineral density	10892	MALT1
HP:0004349	Reduced bone mineral density	2189	FANCG
HP:0004349	Reduced bone mineral density	118429	ANTXR2
HP:0004349	Reduced bone mineral density	2778	GNAS
HP:0004349	Reduced bone mineral density	10516	FBLN5
HP:0004349	Reduced bone mineral density	7486	WRN
HP:0004349	Reduced bone mineral density	126792	B3GALT6
HP:0004349	Reduced bone mineral density	57697	FANCM
HP:0004349	Reduced bone mineral density	80270	HSD3B7
HP:0004349	Reduced bone mineral density	9150	CTDP1
HP:0004349	Reduced bone mineral density	2006	ELN
HP:0004349	Reduced bone mineral density	23534	TNPO3
HP:0004372	Reduced consciousness/confusion	56922	MCCC1
HP:0004372	Reduced consciousness/confusion	4729	NDUFV2
HP:0004372	Reduced consciousness/confusion	2778	GNAS
HP:0004372	Reduced consciousness/confusion	445	ASS1
HP:0004372	Reduced consciousness/confusion	23534	TNPO3
HP:0004372	Reduced consciousness/confusion	4594	MUT
HP:0012664	Reduced ejection fraction	3908	LAMA2
HP:0009804	Reduced number of teeth	5932	RBBP8
HP:0009804	Reduced number of teeth	9775	EIF4A3
HP:0009804	Reduced number of teeth	112752	IFT43
HP:0009804	Reduced number of teeth	7341	SUMO1
HP:0009804	Reduced number of teeth	2006	ELN
HP:0003758	Reduced subcutaneous adipose tissue	5506	PPP1R3A
HP:0001315	Reduced tendon reflexes	1605	DAG1
HP:0001315	Reduced tendon reflexes	1130	LYST
HP:0001315	Reduced tendon reflexes	4729	NDUFV2
HP:0001315	Reduced tendon reflexes	6305	SBF1
HP:0001315	Reduced tendon reflexes	2778	GNAS
HP:0001315	Reduced tendon reflexes	4361	MRE11
HP:0001315	Reduced tendon reflexes	10516	FBLN5
HP:0001315	Reduced tendon reflexes	3908	LAMA2
HP:0001315	Reduced tendon reflexes	80208	SPG11
HP:0001315	Reduced tendon reflexes	410	ARSA
HP:0001315	Reduced tendon reflexes	81846	SBF2
HP:0001315	Reduced tendon reflexes	51128	SAR1B
HP:0007663	Reduced visual acuity	1123	CHN1
HP:0007663	Reduced visual acuity	1130	LYST
HP:0007663	Reduced visual acuity	1414	CRYBB1
HP:0007663	Reduced visual acuity	6295	SAG
HP:0007663	Reduced visual acuity	2006	ELN
HP:0007663	Reduced visual acuity	6899	TBX1
HP:0001582	Redundant skin	10516	FBLN5
HP:0001582	Redundant skin	2006	ELN
HP:0011356	Regional abnormality of skin	57492	ARID1B
HP:0011356	Regional abnormality of skin	2254	FGF9
HP:0011356	Regional abnormality of skin	126792	B3GALT6
HP:0011356	Regional abnormality of skin	57167	SALL4
HP:0011356	Regional abnormality of skin	79813	EHMT1
HP:0011356	Regional abnormality of skin	2006	ELN
HP:0011356	Regional abnormality of skin	23522	KAT6B
HP:0004482	Relative macrocephaly	83737	ITCH
HP:0000104	Renal agenesis	8516	ITGA8
HP:0000104	Renal agenesis	57167	SALL4
HP:0000104	Renal agenesis	6899	TBX1
HP:0001920	Renal artery stenosis	3949	LDLR
HP:0001920	Renal artery stenosis	2006	ELN
HP:0005584	Renal cell carcinoma	79719	AAGAB
HP:0000803	Renal cortical cysts	9652	TTC37
HP:0004734	Renal cortical microcysts	9652	TTC37
HP:0000107	Renal cyst	6899	TBX1
HP:0000107	Renal cyst	10516	FBLN5
HP:0000107	Renal cyst	9652	TTC37
HP:0000107	Renal cyst	2006	ELN
HP:0000107	Renal cyst	9184	BUB3
HP:0000107	Renal cyst	23522	KAT6B
HP:0100877	Renal diverticulum	10516	FBLN5
HP:0000075	Renal duplication	2006	ELN
HP:0000110	Renal dysplasia	8516	ITGA8
HP:0000110	Renal dysplasia	6899	TBX1
HP:0000089	Renal hypoplasia	57492	ARID1B
HP:0000089	Renal hypoplasia	57167	SALL4
HP:0000089	Renal hypoplasia	2006	ELN
HP:0000089	Renal hypoplasia	10084	PQBP1
HP:0000089	Renal hypoplasia	6899	TBX1
HP:0008678	Renal hypoplasia/aplasia	2189	FANCG
HP:0008678	Renal hypoplasia/aplasia	57492	ARID1B
HP:0008678	Renal hypoplasia/aplasia	6899	TBX1
HP:0008678	Renal hypoplasia/aplasia	8516	ITGA8
HP:0008678	Renal hypoplasia/aplasia	57167	SALL4
HP:0008678	Renal hypoplasia/aplasia	57697	FANCM
HP:0008678	Renal hypoplasia/aplasia	10084	PQBP1
HP:0008678	Renal hypoplasia/aplasia	2006	ELN
HP:0000083	Renal insufficiency	7225	TRPC6
HP:0000083	Renal insufficiency	5230	PGK1
HP:0000083	Renal insufficiency	112752	IFT43
HP:0000083	Renal insufficiency	2189	FANCG
HP:0000083	Renal insufficiency	3257	HPS1
HP:0000083	Renal insufficiency	57697	FANCM
HP:0000083	Renal insufficiency	3426	CFI
HP:0000083	Renal insufficiency	2934	GSN
HP:0000083	Renal insufficiency	79813	EHMT1
HP:0000083	Renal insufficiency	2006	ELN
HP:0000083	Renal insufficiency	4594	MUT
HP:0004712	Renal malrotation	57167	SALL4
HP:0009726	Renal neoplasm	7486	WRN
HP:0009726	Renal neoplasm	6736	SRY
HP:0009726	Renal neoplasm	9184	BUB3
HP:0009726	Renal neoplasm	79719	AAGAB
HP:0000799	Renal steatosis	3949	LDLR
HP:0000124	Renal tubular dysfunction	4594	MUT
HP:0100817	Renovascular hypertension	2006	ELN
HP:0001950	Respiratory alkalosis	445	ASS1
HP:0002098	Respiratory distress	9997	SCO2
HP:0002098	Respiratory distress	10516	FBLN5
HP:0002098	Respiratory distress	51660	MPC1
HP:0002098	Respiratory distress	4594	MUT
HP:0002098	Respiratory distress	8318	CDC45
HP:0002878	Respiratory failure	3908	LAMA2
HP:0002878	Respiratory failure	1605	DAG1
HP:0002878	Respiratory failure	4729	NDUFV2
HP:0002878	Respiratory failure	8318	CDC45
HP:0002093	Respiratory insufficiency	8318	CDC45
HP:0002093	Respiratory insufficiency	7443	VRK1
HP:0002093	Respiratory insufficiency	80208	SPG11
HP:0002093	Respiratory insufficiency	1605	DAG1
HP:0002093	Respiratory insufficiency	56922	MCCC1
HP:0002093	Respiratory insufficiency	4729	NDUFV2
HP:0002093	Respiratory insufficiency	3908	LAMA2
HP:0002093	Respiratory insufficiency	1908	EDN3
HP:0002747	Respiratory insufficiency due to muscle weakness	3908	LAMA2
HP:0002747	Respiratory insufficiency due to muscle weakness	80208	SPG11
HP:0011947	Respiratory tract infection	1536	CYBB
HP:0011947	Respiratory tract infection	7681	MKRN3
HP:0011947	Respiratory tract infection	613	BCR
HP:0011947	Respiratory tract infection	1130	LYST
HP:0011947	Respiratory tract infection	10892	MALT1
HP:0011947	Respiratory tract infection	57492	ARID1B
HP:0011947	Respiratory tract infection	4261	CIITA
HP:0011947	Respiratory tract infection	2799	GNS
HP:0011947	Respiratory tract infection	10516	FBLN5
HP:0011947	Respiratory tract infection	3908	LAMA2
HP:0011947	Respiratory tract infection	3426	CFI
HP:0011947	Respiratory tract infection	283489	CHAMP1
HP:0011947	Respiratory tract infection	79813	EHMT1
HP:0011947	Respiratory tract infection	56262	LRRC8A
HP:0011947	Respiratory tract infection	2006	ELN
HP:0011947	Respiratory tract infection	23522	KAT6B
HP:0011947	Respiratory tract infection	3561	IL2RG
HP:0000711	Restlessness	2778	GNAS
HP:0001723	Restrictive cardiomyopathy	5156	PDGFRA
HP:0002091	Restrictive ventilatory defect	3257	HPS1
HP:0001923	Reticulocytosis	5230	PGK1
HP:0001136	Retinal arteriolar tortuosity	6899	TBX1
HP:0001136	Retinal arteriolar tortuosity	2006	ELN
HP:0000480	Retinal coloboma	57167	SALL4
HP:0000546	Retinal degeneration	10516	FBLN5
HP:0000546	Retinal degeneration	7486	WRN
HP:0000546	Retinal degeneration	80208	SPG11
HP:0000546	Retinal degeneration	64218	SEMA4A
HP:0000541	Retinal detachment	1605	DAG1
HP:0007973	Retinal dysplasia	1605	DAG1
HP:0000556	Retinal dystrophy	5130	PCYT1A
HP:0000556	Retinal dystrophy	5148	PDE6G
HP:0000556	Retinal dystrophy	4646	MYO6
HP:0000556	Retinal dystrophy	1605	DAG1
HP:0000556	Retinal dystrophy	5230	PGK1
HP:0000556	Retinal dystrophy	6295	SAG
HP:0000556	Retinal dystrophy	124590	USH1G
HP:0000556	Retinal dystrophy	64218	SEMA4A
HP:0000556	Retinal dystrophy	83696	TRAPPC9
HP:0000556	Retinal dystrophy	10518	CIB2
HP:0000556	Retinal dystrophy	346007	EYS
HP:0012841	Retinal vascular tortuosity	2006	ELN
HP:0012841	Retinal vascular tortuosity	6899	TBX1
HP:0000488	Retinopathy	51128	SAR1B
HP:0000488	Retinopathy	25913	POT1
HP:0000278	Retrognathia	5932	RBBP8
HP:0000278	Retrognathia	9775	EIF4A3
HP:0000278	Retrognathia	8516	ITGA8
HP:0000278	Retrognathia	8318	CDC45
HP:0000278	Retrognathia	1954	MEGF8
HP:0000278	Retrognathia	10682	EBP
HP:0000278	Retrognathia	2006	ELN
HP:0000278	Retrognathia	23522	KAT6B
HP:0000278	Retrognathia	6899	TBX1
HP:0003201	Rhabdomyolysis	5230	PGK1
HP:0003201	Rhabdomyolysis	9150	CTDP1
HP:0002859	Rhabdomyosarcoma	9184	BUB3
HP:0008905	Rhizomelia	5130	PCYT1A
HP:0008905	Rhizomelia	112752	IFT43
HP:0008905	Rhizomelia	10682	EBP
HP:0012020	Right aortic arch	6899	TBX1
HP:0012020	Right aortic arch	78987	CRELD1
HP:0002627	Right aortic arch with mirror image branching	6899	TBX1
HP:0002627	Right aortic arch with mirror image branching	78987	CRELD1
HP:0011663	Right ventricular cardiomyopathy	79188	TMEM43
HP:0001667	Right ventricular hypertrophy	10617	STAMBP
HP:0002063	Rigidity	6531	SLC6A3
HP:0002063	Rigidity	6575	SLC20A2
HP:0002063	Rigidity	1130	LYST
HP:0002063	Rigidity	55532	SLC30A10
HP:0001838	Rocker bottom foot	57492	ARID1B
HP:0001838	Rocker bottom foot	7486	WRN
HP:0000510	Rod-cone dystrophy	10518	CIB2
HP:0000510	Rod-cone dystrophy	5148	PDE6G
HP:0000510	Rod-cone dystrophy	4646	MYO6
HP:0000510	Rod-cone dystrophy	346007	EYS
HP:0000510	Rod-cone dystrophy	6295	SAG
HP:0000510	Rod-cone dystrophy	124590	USH1G
HP:0000510	Rod-cone dystrophy	64218	SEMA4A
HP:0001583	Rotary nystagmus	51660	MPC1
HP:0000311	Round face	2778	GNAS
HP:0000311	Round face	83696	TRAPPC9
HP:0001152	Saccadic smooth pursuit	8913	CACNA1G
HP:0001152	Saccadic smooth pursuit	80208	SPG11
HP:0000960	Sacral dimple	57492	ARID1B
HP:0000960	Sacral dimple	2006	ELN
HP:0010767	Sacrococcygeal pilonidal abnormality	57492	ARID1B
HP:0010767	Sacrococcygeal pilonidal abnormality	2006	ELN
HP:0004442	Sagittal craniosynostosis	112752	IFT43
HP:0004442	Sagittal craniosynostosis	8318	CDC45
HP:0001852	Sandal gap	57492	ARID1B
HP:0001852	Sandal gap	5932	RBBP8
HP:0001852	Sandal gap	57167	SALL4
HP:0001852	Sandal gap	613	BCR
HP:0001852	Sandal gap	112752	IFT43
HP:0100242	Sarcoma	5156	PDGFRA
HP:0100242	Sarcoma	7486	WRN
HP:0100242	Sarcoma	118429	ANTXR2
HP:0100242	Sarcoma	2778	GNAS
HP:0100242	Sarcoma	9184	BUB3
HP:0040189	Scaling skin	25939	SAMHD1
HP:0040189	Scaling skin	9526	MPDU1
HP:0030799	Scaphocephaly	112752	IFT43
HP:0003691	Scapular winging	6443	SGCB
HP:0100699	Scarring	5148	PDE6G
HP:0100699	Scarring	126792	B3GALT6
HP:0100699	Scarring	346007	EYS
HP:0100699	Scarring	6295	SAG
HP:0100699	Scarring	10682	EBP
HP:0100699	Scarring	64218	SEMA4A
HP:0004552	Scarring alopecia of scalp	10682	EBP
HP:0010636	Schizencephaly	6496	SIX3
HP:0100753	Schizophrenia	10518	CIB2
HP:0100753	Schizophrenia	124590	USH1G
HP:0100753	Schizophrenia	6899	TBX1
HP:0000647	Sclerocornea	30062	RAX
HP:0000647	Sclerocornea	6899	TBX1
HP:0100925	Sclerosis of foot bone	10682	EBP
HP:0004054	Sclerosis of hand bone	10682	EBP
HP:0002650	Scoliosis	5130	PCYT1A
HP:0002650	Scoliosis	8318	CDC45
HP:0002650	Scoliosis	2189	FANCG
HP:0002650	Scoliosis	9361	LONP1
HP:0002650	Scoliosis	57492	ARID1B
HP:0002650	Scoliosis	6305	SBF1
HP:0002650	Scoliosis	10516	FBLN5
HP:0002650	Scoliosis	80208	SPG11
HP:0002650	Scoliosis	6496	SIX3
HP:0002650	Scoliosis	57697	FANCM
HP:0002650	Scoliosis	10682	EBP
HP:0002650	Scoliosis	7681	MKRN3
HP:0002650	Scoliosis	6660	SOX5
HP:0002650	Scoliosis	6687	SPG7
HP:0002650	Scoliosis	6736	SRY
HP:0002650	Scoliosis	3798	KIF5A
HP:0002650	Scoliosis	79600	TCTN1
HP:0002650	Scoliosis	6899	TBX1
HP:0002650	Scoliosis	5932	RBBP8
HP:0002650	Scoliosis	3908	LAMA2
HP:0002650	Scoliosis	1861	TOR1A
HP:0002650	Scoliosis	126792	B3GALT6
HP:0002650	Scoliosis	57167	SALL4
HP:0002650	Scoliosis	10084	PQBP1
HP:0002650	Scoliosis	1954	MEGF8
HP:0002650	Scoliosis	81846	SBF2
HP:0002650	Scoliosis	9150	CTDP1
HP:0002650	Scoliosis	2006	ELN
HP:0002650	Scoliosis	23522	KAT6B
HP:0002650	Scoliosis	51199	NIN
HP:0000575	Scotoma	10518	CIB2
HP:0000575	Scotoma	124590	USH1G
HP:0000046	Scrotal hypoplasia	7681	MKRN3
HP:0000046	Scrotal hypoplasia	6736	SRY
HP:0000046	Scrotal hypoplasia	23522	KAT6B
HP:0001051	Seborrheic dermatitis	6899	TBX1
HP:0000869	Secondary amenorrhea	7486	WRN
HP:0003481	Segmental peripheral demyelination/remyelination	81846	SBF2
HP:0001250	Seizures	10300	KATNB1
HP:0001250	Seizures	57492	ARID1B
HP:0001250	Seizures	57609	DIP2B
HP:0001250	Seizures	288	ANK3
HP:0001250	Seizures	80208	SPG11
HP:0001250	Seizures	6496	SIX3
HP:0001250	Seizures	10617	STAMBP
HP:0001250	Seizures	4488	MSX2
HP:0001250	Seizures	410	ARSA
HP:0001250	Seizures	6575	SLC20A2
HP:0001250	Seizures	10682	EBP
HP:0001250	Seizures	445	ASS1
HP:0001250	Seizures	51660	MPC1
HP:0001250	Seizures	4594	MUT
HP:0001250	Seizures	6660	SOX5
HP:0001250	Seizures	2566	GABRG2
HP:0001250	Seizures	613	BCR
HP:0001250	Seizures	4729	NDUFV2
HP:0001250	Seizures	27286	SRPX2
HP:0001250	Seizures	2778	GNAS
HP:0001250	Seizures	2799	GNS
HP:0001250	Seizures	6899	TBX1
HP:0001250	Seizures	23394	ADNP
HP:0001250	Seizures	23417	MLYCD
HP:0001250	Seizures	9184	BUB3
HP:0001250	Seizures	23522	KAT6B
HP:0001250	Seizures	5130	PCYT1A
HP:0001250	Seizures	1123	CHN1
HP:0001250	Seizures	1130	LYST
HP:0001250	Seizures	5230	PGK1
HP:0001250	Seizures	9361	LONP1
HP:0001250	Seizures	3242	HPD
HP:0001250	Seizures	9526	MPDU1
HP:0001250	Seizures	25939	SAMHD1
HP:0001250	Seizures	7681	MKRN3
HP:0001250	Seizures	54820	NDE1
HP:0001250	Seizures	1605	DAG1
HP:0001250	Seizures	56922	MCCC1
HP:0001250	Seizures	5723	PSPH
HP:0001250	Seizures	83696	TRAPPC9
HP:0001250	Seizures	79600	TCTN1
HP:0001250	Seizures	7957	EPM2A
HP:0001250	Seizures	3908	LAMA2
HP:0001250	Seizures	10084	PQBP1
HP:0001250	Seizures	1908	EDN3
HP:0001250	Seizures	1917	EEF1A2
HP:0001250	Seizures	79813	EHMT1
HP:0001250	Seizures	51199	NIN
HP:0001592	Selective tooth agenesis	9775	EIF4A3
HP:0100716	Self-injurious behavior	6660	SOX5
HP:0100716	Self-injurious behavior	54820	NDE1
HP:0000742	Self-mutilation	54820	NDE1
HP:0007141	Sensorimotor neuropathy	3908	LAMA2
HP:0007141	Sensorimotor neuropathy	55532	SLC30A10
HP:0000407	Sensorineural hearing impairment	5148	PDE6G
HP:0000407	Sensorineural hearing impairment	1123	CHN1
HP:0000407	Sensorineural hearing impairment	9361	LONP1
HP:0000407	Sensorineural hearing impairment	57492	ARID1B
HP:0000407	Sensorineural hearing impairment	6295	SAG
HP:0000407	Sensorineural hearing impairment	10518	CIB2
HP:0000407	Sensorineural hearing impairment	10682	EBP
HP:0000407	Sensorineural hearing impairment	4607	MYBPC3
HP:0000407	Sensorineural hearing impairment	4646	MYO6
HP:0000407	Sensorineural hearing impairment	152137	CCDC50
HP:0000407	Sensorineural hearing impairment	613	BCR
HP:0000407	Sensorineural hearing impairment	4729	NDUFV2
HP:0000407	Sensorineural hearing impairment	124590	USH1G
HP:0000407	Sensorineural hearing impairment	2778	GNAS
HP:0000407	Sensorineural hearing impairment	64218	SEMA4A
HP:0000407	Sensorineural hearing impairment	375611	SLC26A5
HP:0000407	Sensorineural hearing impairment	57167	SALL4
HP:0000407	Sensorineural hearing impairment	1908	EDN3
HP:0000407	Sensorineural hearing impairment	346007	EYS
HP:0000407	Sensorineural hearing impairment	1954	MEGF8
HP:0000407	Sensorineural hearing impairment	81846	SBF2
HP:0000407	Sensorineural hearing impairment	2006	ELN
HP:0000407	Sensorineural hearing impairment	23522	KAT6B
HP:0003474	Sensory impairment	7681	MKRN3
HP:0003474	Sensory impairment	10516	FBLN5
HP:0003474	Sensory impairment	6687	SPG7
HP:0003474	Sensory impairment	80208	SPG11
HP:0003474	Sensory impairment	283489	CHAMP1
HP:0003474	Sensory impairment	6305	SBF1
HP:0003474	Sensory impairment	81846	SBF2
HP:0003474	Sensory impairment	51128	SAR1B
HP:0003474	Sensory impairment	8913	CACNA1G
HP:0003474	Sensory impairment	3798	KIF5A
HP:0000763	Sensory neuropathy	811	CALR
HP:0000763	Sensory neuropathy	80208	SPG11
HP:0000763	Sensory neuropathy	1130	LYST
HP:0000763	Sensory neuropathy	9150	CTDP1
HP:0000763	Sensory neuropathy	2778	GNAS
HP:0100806	Sepsis	1536	CYBB
HP:0100806	Sepsis	56262	LRRC8A
HP:0100806	Sepsis	3561	IL2RG
HP:0100806	Sepsis	4594	MUT
HP:0100806	Sepsis	1908	EDN3
HP:0004430	Severe combined immunodeficiency	3561	IL2RG
HP:0006863	Severe expressive language delay	57492	ARID1B
HP:0011344	Severe global developmental delay	10617	STAMBP
HP:0011344	Severe global developmental delay	51199	NIN
HP:0004565	Severe platyspondyly	5130	PCYT1A
HP:0005428	Severe recurrent varicella	1536	CYBB
HP:0003510	Severe short stature	5130	PCYT1A
HP:0003510	Severe short stature	57492	ARID1B
HP:0003510	Severe short stature	118429	ANTXR2
HP:0003510	Severe short stature	126792	B3GALT6
HP:0003510	Severe short stature	57167	SALL4
HP:0003510	Severe short stature	23522	KAT6B
HP:0003510	Severe short stature	9321	TRIP11
HP:0003510	Severe short stature	8318	CDC45
HP:0003510	Severe short stature	51199	NIN
HP:0001141	Severe visual impairment	5130	PCYT1A
HP:0001141	Severe visual impairment	3257	HPS1
HP:0012245	Sex reversal	6736	SRY
HP:0000049	Shawl scrotum	1954	MEGF8
HP:0010034	Short 1st metacarpal	57167	SALL4
HP:0010041	Short 3rd metacarpal	2778	GNAS
HP:0010044	Short 4th metacarpal	6736	SRY
HP:0010044	Short 4th metacarpal	2778	GNAS
HP:0009237	Short 5th finger	57492	ARID1B
HP:0009237	Short 5th finger	5932	RBBP8
HP:0010047	Short 5th metacarpal	2778	GNAS
HP:0000736	Short attention span	7681	MKRN3
HP:0000736	Short attention span	6660	SOX5
HP:0000736	Short attention span	613	BCR
HP:0000736	Short attention span	2006	ELN
HP:0000736	Short attention span	6899	TBX1
HP:0000331	Short chin	83737	ITCH
HP:0000894	Short clavicles	4488	MSX2
HP:0000894	Short clavicles	9321	TRIP11
HP:0011927	Short digit	5130	PCYT1A
HP:0011927	Short digit	9775	EIF4A3
HP:0011927	Short digit	1123	CHN1
HP:0011927	Short digit	613	BCR
HP:0011927	Short digit	112752	IFT43
HP:0011927	Short digit	10370	CITED2
HP:0011927	Short digit	9361	LONP1
HP:0011927	Short digit	57492	ARID1B
HP:0011927	Short digit	118429	ANTXR2
HP:0011927	Short digit	2254	FGF9
HP:0011927	Short digit	2778	GNAS
HP:0011927	Short digit	5932	RBBP8
HP:0011927	Short digit	57167	SALL4
HP:0011927	Short digit	10617	STAMBP
HP:0011927	Short digit	4488	MSX2
HP:0011927	Short digit	1954	MEGF8
HP:0011927	Short digit	79813	EHMT1
HP:0011927	Short digit	23522	KAT6B
HP:0011927	Short digit	3561	IL2RG
HP:0009882	Short distal phalanx of finger	57492	ARID1B
HP:0009882	Short distal phalanx of finger	57167	SALL4
HP:0009882	Short distal phalanx of finger	613	BCR
HP:0009882	Short distal phalanx of finger	112752	IFT43
HP:0009882	Short distal phalanx of finger	10617	STAMBP
HP:0004227	Short distal phalanx of the 5th finger	57492	ARID1B
HP:0100391	Short distal phalanx of the 5th toe	57492	ARID1B
HP:0009650	Short distal phalanx of the thumb	57167	SALL4
HP:0100864	Short femoral neck	126792	B3GALT6
HP:0004704	Short fifth metatarsal	2778	GNAS
HP:0009381	Short finger	5130	PCYT1A
HP:0009381	Short finger	5932	RBBP8
HP:0009381	Short finger	9775	EIF4A3
HP:0009381	Short finger	57167	SALL4
HP:0009381	Short finger	613	BCR
HP:0009381	Short finger	112752	IFT43
HP:0009381	Short finger	10617	STAMBP
HP:0009381	Short finger	57492	ARID1B
HP:0009381	Short finger	2778	GNAS
HP:0001773	Short foot	7681	MKRN3
HP:0001773	Short foot	126792	B3GALT6
HP:0001773	Short foot	9321	TRIP11
HP:0010109	Short hallux	57167	SALL4
HP:0005792	Short humerus	57167	SALL4
HP:0005792	Short humerus	9361	LONP1
HP:0100866	Short iliac bones	126792	B3GALT6
HP:0003026	Short long bone	9775	EIF4A3
HP:0003026	Short long bone	126792	B3GALT6
HP:0003026	Short long bone	57167	SALL4
HP:0003026	Short long bone	6736	SRY
HP:0003026	Short long bone	57697	FANCM
HP:0003026	Short long bone	1123	CHN1
HP:0003026	Short long bone	9321	TRIP11
HP:0003026	Short long bone	2189	FANCG
HP:0003026	Short long bone	9361	LONP1
HP:0003026	Short long bone	2778	GNAS
HP:0010049	Short metacarpal	5130	PCYT1A
HP:0010049	Short metacarpal	9361	LONP1
HP:0010049	Short metacarpal	9775	EIF4A3
HP:0010049	Short metacarpal	126792	B3GALT6
HP:0010049	Short metacarpal	57167	SALL4
HP:0010049	Short metacarpal	6736	SRY
HP:0010049	Short metacarpal	2778	GNAS
HP:0010743	Short metatarsal	6736	SRY
HP:0010743	Short metatarsal	2778	GNAS
HP:0005819	Short middle phalanx of finger	5932	RBBP8
HP:0004220	Short middle phalanx of the 5th finger	5932	RBBP8
HP:0001799	Short nail	112752	IFT43
HP:0001799	Short nail	126792	B3GALT6
HP:0000470	Short neck	1123	CHN1
HP:0000470	Short neck	9321	TRIP11
HP:0000470	Short neck	118429	ANTXR2
HP:0000470	Short neck	2778	GNAS
HP:0000470	Short neck	2799	GNS
HP:0000470	Short neck	83696	TRAPPC9
HP:0000470	Short neck	6899	TBX1
HP:0000470	Short neck	126792	B3GALT6
HP:0000470	Short neck	1954	MEGF8
HP:0000470	Short neck	10682	EBP
HP:0003196	Short nose	9321	TRIP11
HP:0003196	Short nose	9361	LONP1
HP:0003196	Short nose	23394	ADNP
HP:0003196	Short nose	10617	STAMBP
HP:0003196	Short nose	79813	EHMT1
HP:0003196	Short nose	2006	ELN
HP:0004279	Short palm	7681	MKRN3
HP:0004279	Short palm	5130	PCYT1A
HP:0004279	Short palm	57492	ARID1B
HP:0004279	Short palm	118429	ANTXR2
HP:0004279	Short palm	126792	B3GALT6
HP:0004279	Short palm	2254	FGF9
HP:0004279	Short palm	23522	KAT6B
HP:0004279	Short palm	613	BCR
HP:0004279	Short palm	9321	TRIP11
HP:0012745	Short palpebral fissure	2189	FANCG
HP:0012745	Short palpebral fissure	57492	ARID1B
HP:0012745	Short palpebral fissure	57167	SALL4
HP:0012745	Short palpebral fissure	57697	FANCM
HP:0012745	Short palpebral fissure	23522	KAT6B
HP:0012745	Short palpebral fissure	1123	CHN1
HP:0012745	Short palpebral fissure	6899	TBX1
HP:0009803	Short phalanx of finger	5932	RBBP8
HP:0009803	Short phalanx of finger	9775	EIF4A3
HP:0009803	Short phalanx of finger	57167	SALL4
HP:0009803	Short phalanx of finger	613	BCR
HP:0009803	Short phalanx of finger	112752	IFT43
HP:0009803	Short phalanx of finger	10617	STAMBP
HP:0009803	Short phalanx of finger	9361	LONP1
HP:0009803	Short phalanx of finger	57492	ARID1B
HP:0009803	Short phalanx of finger	23522	KAT6B
HP:0100368	Short phalanx of the 5th toe	57492	ARID1B
HP:0009660	Short phalanx of the thumb	57167	SALL4
HP:0000322	Short philtrum	10084	PQBP1
HP:0000322	Short philtrum	283489	CHAMP1
HP:0000322	Short philtrum	57492	ARID1B
HP:0000322	Short philtrum	83696	TRAPPC9
HP:0000322	Short philtrum	6899	TBX1
HP:0000773	Short ribs	9321	TRIP11
HP:0004322	Short stature	112752	IFT43
HP:0004322	Short stature	8318	CDC45
HP:0004322	Short stature	2189	FANCG
HP:0004322	Short stature	57492	ARID1B
HP:0004322	Short stature	57697	FANCM
HP:0004322	Short stature	10617	STAMBP
HP:0004322	Short stature	10682	EBP
HP:0004322	Short stature	6736	SRY
HP:0004322	Short stature	613	BCR
HP:0004322	Short stature	2778	GNAS
HP:0004322	Short stature	6899	TBX1
HP:0004322	Short stature	23394	ADNP
HP:0004322	Short stature	23417	MLYCD
HP:0004322	Short stature	9150	CTDP1
HP:0004322	Short stature	9184	BUB3
HP:0004322	Short stature	23522	KAT6B
HP:0004322	Short stature	5130	PCYT1A
HP:0004322	Short stature	9321	TRIP11
HP:0004322	Short stature	9361	LONP1
HP:0004322	Short stature	7486	WRN
HP:0004322	Short stature	9652	TTC37
HP:0004322	Short stature	7681	MKRN3
HP:0004322	Short stature	54820	NDE1
HP:0004322	Short stature	9775	EIF4A3
HP:0004322	Short stature	118429	ANTXR2
HP:0004322	Short stature	5932	RBBP8
HP:0004322	Short stature	126792	B3GALT6
HP:0004322	Short stature	57167	SALL4
HP:0004322	Short stature	10084	PQBP1
HP:0004322	Short stature	1908	EDN3
HP:0004322	Short stature	2006	ELN
HP:0004322	Short stature	51199	NIN
HP:0000879	Short sternum	57492	ARID1B
HP:0010306	Short thorax	9321	TRIP11
HP:0009778	Short thumb	9775	EIF4A3
HP:0009778	Short thumb	57167	SALL4
HP:0005736	Short tibia	9775	EIF4A3
HP:0001831	Short toe	57167	SALL4
HP:0001831	Short toe	2778	GNAS
HP:0001831	Short toe	3561	IL2RG
HP:0012232	Shortened QT interval	781	CACNA2D1
HP:0003724	Shoulder girdle muscle atrophy	6443	SGCB
HP:0008952	Shoulder muscle hypoplasia	57167	SALL4
HP:0001924	Sideroblastic anemia	2189	FANCG
HP:0001924	Sideroblastic anemia	57697	FANCM
HP:0025121	Simple partial occipital seizures	7957	EPM2A
HP:0006216	Single interphalangeal crease of fifth finger	5932	RBBP8
HP:0006315	Single median maxillary incisor	6496	SIX3
HP:0000954	Single transverse palmar crease	57492	ARID1B
HP:0000954	Single transverse palmar crease	79813	EHMT1
HP:0000954	Single transverse palmar crease	2254	FGF9
HP:0000954	Single transverse palmar crease	23522	KAT6B
HP:0000246	Sinusitis	1536	CYBB
HP:0000246	Sinusitis	56262	LRRC8A
HP:0000246	Sinusitis	3426	CFI
HP:0000246	Sinusitis	3561	IL2RG
HP:0010497	Sirenomelia	8516	ITGA8
HP:0001696	Situs inversus totalis	1954	MEGF8
HP:0001696	Situs inversus totalis	10084	PQBP1
HP:0001696	Situs inversus totalis	79600	TCTN1
HP:0002652	Skeletal dysplasia	5130	PCYT1A
HP:0002652	Skeletal dysplasia	126792	B3GALT6
HP:0002652	Skeletal dysplasia	9321	TRIP11
HP:0002652	Skeletal dysplasia	9361	LONP1
HP:0002652	Skeletal dysplasia	2778	GNAS
HP:0003202	Skeletal muscle atrophy	1123	CHN1
HP:0003202	Skeletal muscle atrophy	4361	MRE11
HP:0003202	Skeletal muscle atrophy	7443	VRK1
HP:0003202	Skeletal muscle atrophy	10516	FBLN5
HP:0003202	Skeletal muscle atrophy	6443	SGCB
HP:0003202	Skeletal muscle atrophy	7486	WRN
HP:0003202	Skeletal muscle atrophy	80208	SPG11
HP:0003202	Skeletal muscle atrophy	79188	TMEM43
HP:0003202	Skeletal muscle atrophy	54820	NDE1
HP:0003202	Skeletal muscle atrophy	1605	DAG1
HP:0003202	Skeletal muscle atrophy	4729	NDUFV2
HP:0003202	Skeletal muscle atrophy	118429	ANTXR2
HP:0003202	Skeletal muscle atrophy	2778	GNAS
HP:0003202	Skeletal muscle atrophy	126792	B3GALT6
HP:0003202	Skeletal muscle atrophy	81846	SBF2
HP:0003712	Skeletal muscle hypertrophy	3908	LAMA2
HP:0003712	Skeletal muscle hypertrophy	6736	SRY
HP:0003712	Skeletal muscle hypertrophy	10084	PQBP1
HP:0003712	Skeletal muscle hypertrophy	79813	EHMT1
HP:0003712	Skeletal muscle hypertrophy	2006	ELN
HP:0010781	Skin dimples	57492	ARID1B
HP:0010781	Skin dimples	2006	ELN
HP:0200036	Skin nodule	118429	ANTXR2
HP:0200036	Skin nodule	4023	LPL
HP:0200036	Skin nodule	2778	GNAS
HP:0200036	Skin nodule	3949	LDLR
HP:0100276	Skin pit	10370	CITED2
HP:0100276	Skin pit	6899	TBX1
HP:0100276	Skin pit	1909	EDNRA
HP:0000988	Skin rash	1536	CYBB
HP:0000988	Skin rash	5156	PDGFRA
HP:0000988	Skin rash	56262	LRRC8A
HP:0000988	Skin rash	7128	TNFAIP3
HP:0000988	Skin rash	3561	IL2RG
HP:0010609	Skin tags	57492	ARID1B
HP:0010609	Skin tags	1123	CHN1
HP:0010609	Skin tags	1909	EDNRA
HP:0200042	Skin ulcer	1536	CYBB
HP:0200042	Skin ulcer	118429	ANTXR2
HP:0200042	Skin ulcer	7486	WRN
HP:0200042	Skin ulcer	1130	LYST
HP:0200006	Slanting of the palpebral fissure	2189	FANCG
HP:0200006	Slanting of the palpebral fissure	57492	ARID1B
HP:0200006	Slanting of the palpebral fissure	57697	FANCM
HP:0200006	Slanting of the palpebral fissure	7546	ZIC2
HP:0200006	Slanting of the palpebral fissure	9652	TTC37
HP:0200006	Slanting of the palpebral fissure	10682	EBP
HP:0200006	Slanting of the palpebral fissure	7681	MKRN3
HP:0200006	Slanting of the palpebral fissure	6660	SOX5
HP:0200006	Slanting of the palpebral fissure	6899	TBX1
HP:0200006	Slanting of the palpebral fissure	5932	RBBP8
HP:0200006	Slanting of the palpebral fissure	23394	ADNP
HP:0200006	Slanting of the palpebral fissure	10084	PQBP1
HP:0200006	Slanting of the palpebral fissure	283489	CHAMP1
HP:0200006	Slanting of the palpebral fissure	1908	EDN3
HP:0200006	Slanting of the palpebral fissure	1917	EEF1A2
HP:0200006	Slanting of the palpebral fissure	1954	MEGF8
HP:0200006	Slanting of the palpebral fissure	79813	EHMT1
HP:0200006	Slanting of the palpebral fissure	9184	BUB3
HP:0200006	Slanting of the palpebral fissure	23522	KAT6B
HP:0010535	Sleep apnea	7681	MKRN3
HP:0002360	Sleep disturbance	7681	MKRN3
HP:0002360	Sleep disturbance	2799	GNS
HP:0002360	Sleep disturbance	288	ANK3
HP:0002360	Sleep disturbance	79813	EHMT1
HP:0002360	Sleep disturbance	2006	ELN
HP:0002360	Sleep disturbance	23534	TNPO3
HP:0001533	Slender build	7486	WRN
HP:0001238	Slender finger	10516	FBLN5
HP:0001238	Slender finger	126792	B3GALT6
HP:0001238	Slender finger	2006	ELN
HP:0001238	Slender finger	10084	PQBP1
HP:0001238	Slender finger	613	BCR
HP:0001238	Slender finger	6899	TBX1
HP:0003100	Slender long bone	126792	B3GALT6
HP:0003100	Slender long bone	8318	CDC45
HP:0008588	Slit-like opening of the exterior auditory meatus	57167	SALL4
HP:0000340	Sloping forehead	54820	NDE1
HP:0000340	Sloping forehead	10300	KATNB1
HP:0000340	Sloping forehead	57697	FANCM
HP:0000340	Sloping forehead	10617	STAMBP
HP:0000340	Sloping forehead	2189	FANCG
HP:0000340	Sloping forehead	9184	BUB3
HP:0000340	Sloping forehead	23522	KAT6B
HP:0003677	Slow progression	80208	SPG11
HP:0003677	Slow progression	79188	TMEM43
HP:0003677	Slow progression	255928	SYT14
HP:0003677	Slow progression	8913	CACNA1G
HP:0002217	Slow-growing hair	57492	ARID1B
HP:0000385	Small earlobe	6899	TBX1
HP:0000274	Small face	5932	RBBP8
HP:0000274	Small face	7486	WRN
HP:0000274	Small face	2006	ELN
HP:0000274	Small face	10084	PQBP1
HP:0000274	Small face	6899	TBX1
HP:0001518	Small for gestational age	5932	RBBP8
HP:0001518	Small for gestational age	10617	STAMBP
HP:0001518	Small for gestational age	9652	TTC37
HP:0200055	Small hand	7681	MKRN3
HP:0200055	Small hand	7486	WRN
HP:0200055	Small hand	23394	ADNP
HP:0012848	Small intestinal stenosis	2189	FANCG
HP:0012848	Small intestinal stenosis	57697	FANCM
HP:0012848	Small intestinal stenosis	8318	CDC45
HP:0001792	Small nail	10617	STAMBP
HP:0001792	Small nail	57492	ARID1B
HP:0001792	Small nail	2006	ELN
HP:0001245	Small thenar eminence	57167	SALL4
HP:0000319	Smooth philtrum	57492	ARID1B
HP:0000319	Smooth philtrum	23394	ADNP
HP:0000319	Smooth philtrum	613	BCR
HP:0000319	Smooth philtrum	83696	TRAPPC9
HP:0000319	Smooth philtrum	6899	TBX1
HP:0000977	Soft skin	126792	B3GALT6
HP:0000977	Soft skin	2006	ELN
HP:0030448	Soft tissue sarcoma	118429	ANTXR2
HP:0030448	Soft tissue sarcoma	5156	PDGFRA
HP:0030448	Soft tissue sarcoma	9184	BUB3
HP:0001027	Soft, doughy skin	126792	B3GALT6
HP:0001442	Somatic mosaicism	2778	GNAS
HP:0001428	Somatic mutation	5156	PDGFRA
HP:0001428	Somatic mutation	811	CALR
HP:0001428	Somatic mutation	2778	GNAS
HP:0001428	Somatic mutation	613	BCR
HP:0025112	Sound sensitivity	2006	ELN
HP:0000535	Sparse and thin eyebrow	1954	MEGF8
HP:0000535	Sparse and thin eyebrow	10682	EBP
HP:0000535	Sparse and thin eyebrow	126792	B3GALT6
HP:0000535	Sparse and thin eyebrow	1909	EDNRA
HP:0002215	Sparse axillary hair	6736	SRY
HP:0045075	Sparse eyebrow	1954	MEGF8
HP:0045075	Sparse eyebrow	10682	EBP
HP:0045075	Sparse eyebrow	126792	B3GALT6
HP:0045075	Sparse eyebrow	10084	PQBP1
HP:0045075	Sparse eyebrow	1909	EDNRA
HP:0000653	Sparse eyelashes	10682	EBP
HP:0000653	Sparse eyelashes	126792	B3GALT6
HP:0000653	Sparse eyelashes	1909	EDNRA
HP:0008070	Sparse hair	6736	SRY
HP:0008070	Sparse hair	112752	IFT43
HP:0008070	Sparse hair	57492	ARID1B
HP:0008070	Sparse hair	3242	HPD
HP:0008070	Sparse hair	5932	RBBP8
HP:0008070	Sparse hair	7486	WRN
HP:0008070	Sparse hair	126792	B3GALT6
HP:0008070	Sparse hair	10084	PQBP1
HP:0008070	Sparse hair	1909	EDNRA
HP:0008070	Sparse hair	9652	TTC37
HP:0008070	Sparse hair	10682	EBP
HP:0008070	Sparse hair	23522	KAT6B
HP:0005338	Sparse lateral eyebrow	10084	PQBP1
HP:0200102	Sparse or absent eyelashes	10682	EBP
HP:0200102	Sparse or absent eyelashes	126792	B3GALT6
HP:0200102	Sparse or absent eyelashes	1909	EDNRA
HP:0002225	Sparse pubic hair	6736	SRY
HP:0002209	Sparse scalp hair	57492	ARID1B
HP:0002209	Sparse scalp hair	5932	RBBP8
HP:0002209	Sparse scalp hair	7486	WRN
HP:0002209	Sparse scalp hair	126792	B3GALT6
HP:0002209	Sparse scalp hair	23522	KAT6B
HP:0002497	Spastic ataxia	8913	CACNA1G
HP:0001264	Spastic diplegia	10084	PQBP1
HP:0002064	Spastic gait	8913	CACNA1G
HP:0002064	Spastic gait	80208	SPG11
HP:0002064	Spastic gait	3798	KIF5A
HP:0002064	Spastic gait	6687	SPG7
HP:0002313	Spastic paraparesis	55532	SLC30A10
HP:0001258	Spastic paraplegia	6687	SPG7
HP:0001258	Spastic paraplegia	80208	SPG11
HP:0001258	Spastic paraplegia	3798	KIF5A
HP:0001285	Spastic tetraparesis	10617	STAMBP
HP:0002510	Spastic tetraplegia	410	ARSA
HP:0002510	Spastic tetraplegia	54820	NDE1
HP:0001257	Spasticity	10300	KATNB1
HP:0001257	Spasticity	55532	SLC30A10
HP:0001257	Spasticity	4361	MRE11
HP:0001257	Spasticity	288	ANK3
HP:0001257	Spasticity	80208	SPG11
HP:0001257	Spasticity	25939	SAMHD1
HP:0001257	Spasticity	10617	STAMBP
HP:0001257	Spasticity	410	ARSA
HP:0001257	Spasticity	6687	SPG7
HP:0001257	Spasticity	54820	NDE1
HP:0001257	Spasticity	56922	MCCC1
HP:0001257	Spasticity	4729	NDUFV2
HP:0001257	Spasticity	8913	CACNA1G
HP:0001257	Spasticity	3798	KIF5A
HP:0001257	Spasticity	10084	PQBP1
HP:0001257	Spasticity	2006	ELN
HP:0001257	Spasticity	5119	CHMP1A
HP:0001328	Specific learning disability	7681	MKRN3
HP:0001328	Specific learning disability	1605	DAG1
HP:0001328	Specific learning disability	6736	SRY
HP:0001328	Specific learning disability	80208	SPG11
HP:0001328	Specific learning disability	8318	CDC45
HP:0001328	Specific learning disability	57492	ARID1B
HP:0001328	Specific learning disability	79813	EHMT1
HP:0001328	Specific learning disability	2006	ELN
HP:0001328	Specific learning disability	23522	KAT6B
HP:0001328	Specific learning disability	6899	TBX1
HP:0011098	Speech apraxia	27286	SRPX2
HP:0002414	Spina bifida	57167	SALL4
HP:0002414	Spina bifida	57697	FANCM
HP:0002414	Spina bifida	1123	CHN1
HP:0002414	Spina bifida	2189	FANCG
HP:0002414	Spina bifida	57492	ARID1B
HP:0002414	Spina bifida	2006	ELN
HP:0002414	Spina bifida	6899	TBX1
HP:0003298	Spina bifida occulta	57492	ARID1B
HP:0003298	Spina bifida occulta	57167	SALL4
HP:0003298	Spina bifida occulta	2006	ELN
HP:0003298	Spina bifida occulta	1123	CHN1
HP:0002176	Spinal cord compression	126792	B3GALT6
HP:0002176	Spinal cord compression	2778	GNAS
HP:0010301	Spinal dysraphism	57167	SALL4
HP:0010301	Spinal dysraphism	57697	FANCM
HP:0010301	Spinal dysraphism	1123	CHN1
HP:0010301	Spinal dysraphism	2189	FANCG
HP:0010301	Spinal dysraphism	57492	ARID1B
HP:0010301	Spinal dysraphism	2006	ELN
HP:0010301	Spinal dysraphism	6899	TBX1
HP:0007269	Spinal muscular atrophy	7443	VRK1
HP:0010531	Spinal myoclonus	1861	TOR1A
HP:0001744	Splenomegaly	1536	CYBB
HP:0001744	Splenomegaly	5156	PDGFRA
HP:0001744	Splenomegaly	613	BCR
HP:0001744	Splenomegaly	1130	LYST
HP:0001744	Splenomegaly	2799	GNS
HP:0001744	Splenomegaly	6899	TBX1
HP:0001744	Splenomegaly	83737	ITCH
HP:0001744	Splenomegaly	811	CALR
HP:0001744	Splenomegaly	80270	HSD3B7
HP:0001744	Splenomegaly	4023	LPL
HP:0001744	Splenomegaly	3561	IL2RG
HP:0001744	Splenomegaly	4594	MUT
HP:0001171	Split hand	81846	SBF2
HP:0001171	Split hand	9150	CTDP1
HP:0002651	Spondyloepimetaphyseal dysplasia	126792	B3GALT6
HP:0002657	Spondylometaphyseal dysplasia	5130	PCYT1A
HP:0005268	Spontaneous abortion	7486	WRN
HP:0003745	Sporadic	7681	MKRN3
HP:0003745	Sporadic	5156	PDGFRA
HP:0003745	Sporadic	79813	EHMT1
HP:0003745	Sporadic	2778	GNAS
HP:0003745	Sporadic	6496	SIX3
HP:0002860	Squamous cell carcinoma	6049	RNF6
HP:0002860	Squamous cell carcinoma	7486	WRN
HP:0003177	Squared iliac bones	9361	LONP1
HP:0003774	Stage 5 chronic kidney disease	112752	IFT43
HP:0003774	Stage 5 chronic kidney disease	4594	MUT
HP:0002133	Status epilepticus	2566	GABRG2
HP:0002133	Status epilepticus	57492	ARID1B
HP:0002133	Status epilepticus	79813	EHMT1
HP:0002570	Steatorrhea	80270	HSD3B7
HP:0002570	Steatorrhea	118429	ANTXR2
HP:0002570	Steatorrhea	51128	SAR1B
HP:0000402	Stenosis of the external auditory canal	1123	CHN1
HP:0000402	Stenosis of the external auditory canal	57167	SALL4
HP:0000402	Stenosis of the external auditory canal	1909	EDNRA
HP:0003376	Steppage gait	81846	SBF2
HP:0000733	Stereotypy	6660	SOX5
HP:0000733	Stereotypy	79813	EHMT1
HP:0000733	Stereotypy	23394	ADNP
HP:0000733	Stereotypy	283489	CHAMP1
HP:0000733	Stereotypy	6899	TBX1
HP:0003826	Stillbirth	9321	TRIP11
HP:0004241	Stippled calcification in carpal bones	10682	EBP
HP:0012126	Stomach cancer	9184	BUB3
HP:0031137	Storage in hepatocytes	56922	MCCC1
HP:0031137	Storage in hepatocytes	3949	LDLR
HP:0031137	Storage in hepatocytes	5506	PPP1R3A
HP:0031137	Storage in hepatocytes	51128	SAR1B
HP:0000486	Strabismus	1123	CHN1
HP:0000486	Strabismus	1130	LYST
HP:0000486	Strabismus	8318	CDC45
HP:0000486	Strabismus	2189	FANCG
HP:0000486	Strabismus	9361	LONP1
HP:0000486	Strabismus	57492	ARID1B
HP:0000486	Strabismus	6295	SAG
HP:0000486	Strabismus	6305	SBF1
HP:0000486	Strabismus	9526	MPDU1
HP:0000486	Strabismus	57697	FANCM
HP:0000486	Strabismus	7681	MKRN3
HP:0000486	Strabismus	6660	SOX5
HP:0000486	Strabismus	113179	ADAT3
HP:0000486	Strabismus	4729	NDUFV2
HP:0000486	Strabismus	2778	GNAS
HP:0000486	Strabismus	79600	TCTN1
HP:0000486	Strabismus	6899	TBX1
HP:0000486	Strabismus	57167	SALL4
HP:0000486	Strabismus	23394	ADNP
HP:0000486	Strabismus	10084	PQBP1
HP:0000486	Strabismus	283489	CHAMP1
HP:0000486	Strabismus	9150	CTDP1
HP:0000486	Strabismus	2006	ELN
HP:0000486	Strabismus	23522	KAT6B
HP:0000486	Strabismus	5119	CHMP1A
HP:0010464	Streak ovary	6736	SRY
HP:0001065	Striae distensae	2778	GNAS
HP:0001297	Stroke	811	CALR
HP:0001297	Stroke	445	ASS1
HP:0001297	Stroke	2006	ELN
HP:0001297	Stroke	4594	MUT
HP:0002138	Subarachnoid hemorrhage	2006	ELN
HP:0012157	Subcortical cerebral atrophy	79813	EHMT1
HP:0012157	Subcortical cerebral atrophy	124590	USH1G
HP:0012157	Subcortical cerebral atrophy	10518	CIB2
HP:0007618	Subcutaneous calcification	7486	WRN
HP:0001933	Subcutaneous hemorrhage	22852	ANKRD26
HP:0001933	Subcutaneous hemorrhage	1130	LYST
HP:0001933	Subcutaneous hemorrhage	6575	SLC20A2
HP:0001933	Subcutaneous hemorrhage	3257	HPS1
HP:0001933	Subcutaneous hemorrhage	2006	ELN
HP:0001933	Subcutaneous hemorrhage	2778	GNAS
HP:0001933	Subcutaneous hemorrhage	6899	TBX1
HP:0001482	Subcutaneous nodule	118429	ANTXR2
HP:0001482	Subcutaneous nodule	2778	GNAS
HP:0000176	Submucous cleft hard palate	1605	DAG1
HP:0000176	Submucous cleft hard palate	6496	SIX3
HP:0000176	Submucous cleft hard palate	23522	KAT6B
HP:0000176	Submucous cleft hard palate	8318	CDC45
HP:0410031	Submucous cleft of soft and hard palate	1605	DAG1
HP:0410031	Submucous cleft of soft and hard palate	6496	SIX3
HP:0410031	Submucous cleft of soft and hard palate	23522	KAT6B
HP:0410031	Submucous cleft of soft and hard palate	8318	CDC45
HP:0001682	Subvalvular aortic stenosis	9184	BUB3
HP:0001645	Sudden cardiac death	9992	KCNE2
HP:0001645	Sudden cardiac death	781	CACNA2D1
HP:0001645	Sudden cardiac death	1837	DTNA
HP:0001645	Sudden cardiac death	79188	TMEM43
HP:0001645	Sudden cardiac death	2006	ELN
HP:0001645	Sudden cardiac death	3949	LDLR
HP:0001699	Sudden death	2006	ELN
HP:0002558	Supernumerary nipple	1954	MEGF8
HP:0009799	Supernumerary spleens	1954	MEGF8
HP:0004381	Supravalvular aortic stenosis	3949	LDLR
HP:0004381	Supravalvular aortic stenosis	10516	FBLN5
HP:0004381	Supravalvular aortic stenosis	2006	ELN
HP:0005115	Supraventricular arrhythmia	9992	KCNE2
HP:0005115	Supraventricular arrhythmia	781	CACNA2D1
HP:0005115	Supraventricular arrhythmia	1837	DTNA
HP:0005115	Supraventricular arrhythmia	79188	TMEM43
HP:0002695	Symmetrical, oval parietal bone defects	4488	MSX2
HP:0009773	Symphalangism affecting the phalanges of the hand	2254	FGF9
HP:0011145	Symptomatic seizures	2778	GNAS
HP:0001279	Syncope	9992	KCNE2
HP:0001279	Syncope	781	CACNA2D1
HP:0001159	Syndactyly	7681	MKRN3
HP:0001159	Syndactyly	6660	SOX5
HP:0001159	Syndactyly	613	BCR
HP:0001159	Syndactyly	112752	IFT43
HP:0001159	Syndactyly	8318	CDC45
HP:0001159	Syndactyly	2189	FANCG
HP:0001159	Syndactyly	6305	SBF1
HP:0001159	Syndactyly	5932	RBBP8
HP:0001159	Syndactyly	57167	SALL4
HP:0001159	Syndactyly	57697	FANCM
HP:0001159	Syndactyly	1954	MEGF8
HP:0001159	Syndactyly	10682	EBP
HP:0000664	Synophrys	79813	EHMT1
HP:0000664	Synophrys	2799	GNS
HP:0000664	Synophrys	83696	TRAPPC9
HP:0000664	Synophrys	1908	EDN3
HP:0000664	Synophrys	7546	ZIC2
HP:0009140	Synostosis involving bones of the feet	2254	FGF9
HP:0004278	Synostosis involving bones of the hand	126792	B3GALT6
HP:0004278	Synostosis involving bones of the hand	2254	FGF9
HP:0004278	Synostosis involving bones of the hand	57167	SALL4
HP:0009138	Synostosis involving bones of the lower limbs	2254	FGF9
HP:0100238	Synostosis involving bones of the upper limbs	126792	B3GALT6
HP:0100238	Synostosis involving bones of the upper limbs	2254	FGF9
HP:0100238	Synostosis involving bones of the upper limbs	57167	SALL4
HP:0100238	Synostosis involving bones of the upper limbs	2006	ELN
HP:0100238	Synostosis involving bones of the upper limbs	23522	KAT6B
HP:0003938	Synostosis involving the elbow	2254	FGF9
HP:0005048	Synostosis of carpal bones	57167	SALL4
HP:0100266	Synostosis of carpals/tarsals	126792	B3GALT6
HP:0100266	Synostosis of carpals/tarsals	57167	SALL4
HP:0100240	Synostosis of joints	6660	SOX5
HP:0100240	Synostosis of joints	126792	B3GALT6
HP:0100240	Synostosis of joints	57167	SALL4
HP:0100240	Synostosis of joints	1123	CHN1
HP:0100240	Synostosis of joints	2254	FGF9
HP:0100240	Synostosis of joints	2006	ELN
HP:0100240	Synostosis of joints	23522	KAT6B
HP:0100265	Synostosis of metacarpals/metatarsals	2254	FGF9
HP:0001649	Tachycardia	6736	SRY
HP:0001649	Tachycardia	79188	TMEM43
HP:0002789	Tachypnea	79600	TCTN1
HP:0001883	Talipes	54820	NDE1
HP:0001883	Talipes	9775	EIF4A3
HP:0001883	Talipes	1123	CHN1
HP:0001883	Talipes	6899	TBX1
HP:0001883	Talipes	8516	ITGA8
HP:0001883	Talipes	126792	B3GALT6
HP:0001883	Talipes	57167	SALL4
HP:0001883	Talipes	1954	MEGF8
HP:0001883	Talipes	81846	SBF2
HP:0001883	Talipes	10682	EBP
HP:0001883	Talipes	9150	CTDP1
HP:0001883	Talipes	79813	EHMT1
HP:0001883	Talipes	23522	KAT6B
HP:0001883	Talipes	5119	CHMP1A
HP:0001762	Talipes equinovarus	54820	NDE1
HP:0001762	Talipes equinovarus	9775	EIF4A3
HP:0001762	Talipes equinovarus	1123	CHN1
HP:0001762	Talipes equinovarus	6899	TBX1
HP:0001762	Talipes equinovarus	8516	ITGA8
HP:0001762	Talipes equinovarus	126792	B3GALT6
HP:0001762	Talipes equinovarus	1954	MEGF8
HP:0001762	Talipes equinovarus	81846	SBF2
HP:0001762	Talipes equinovarus	10682	EBP
HP:0001762	Talipes equinovarus	9150	CTDP1
HP:0001762	Talipes equinovarus	79813	EHMT1
HP:0001762	Talipes equinovarus	23522	KAT6B
HP:0001762	Talipes equinovarus	5119	CHMP1A
HP:0004684	Talipes valgus	5119	CHMP1A
HP:0000098	Tall stature	10516	FBLN5
HP:0000098	Tall stature	7486	WRN
HP:0000098	Tall stature	6736	SRY
HP:0000098	Tall stature	2006	ELN
HP:0000098	Tall stature	2778	GNAS
HP:0001182	Tapered finger	83696	TRAPPC9
HP:0031051	Tarsal sclerosis	10682	EBP
HP:0008131	Tarsal stippling	10682	EBP
HP:0000679	Taurodontia	112752	IFT43
HP:0001009	Telangiectasia	4361	MRE11
HP:0001009	Telangiectasia	7486	WRN
HP:0001009	Telangiectasia	118429	ANTXR2
HP:0100585	Telangiectasia of the skin	118429	ANTXR2
HP:0100585	Telangiectasia of the skin	7486	WRN
HP:0000506	Telecanthus	126792	B3GALT6
HP:0000506	Telecanthus	112752	IFT43
HP:0000506	Telecanthus	1908	EDN3
HP:0000506	Telecanthus	6899	TBX1
HP:0005968	Temperature instability	7681	MKRN3
HP:0010874	Tendon xanthomatosis	3949	LDLR
HP:0010804	Tented upper lip vermilion	283489	CHAMP1
HP:0010804	Tented upper lip vermilion	1917	EEF1A2
HP:0008715	Testicular dysgenesis	6736	SRY
HP:0000030	Testicular gonadoblastoma	6736	SRY
HP:0010788	Testicular neoplasm	6736	SRY
HP:0010788	Testicular neoplasm	2778	GNAS
HP:0100813	Testicular torsion	126792	B3GALT6
HP:0001281	Tetany	6899	TBX1
HP:0001636	Tetralogy of Fallot	57167	SALL4
HP:0001636	Tetralogy of Fallot	57697	FANCM
HP:0001636	Tetralogy of Fallot	10084	PQBP1
HP:0001636	Tetralogy of Fallot	10370	CITED2
HP:0001636	Tetralogy of Fallot	2189	FANCG
HP:0001636	Tetralogy of Fallot	57492	ARID1B
HP:0001636	Tetralogy of Fallot	9652	TTC37
HP:0001636	Tetralogy of Fallot	79813	EHMT1
HP:0001636	Tetralogy of Fallot	2006	ELN
HP:0001636	Tetralogy of Fallot	6899	TBX1
HP:0002445	Tetraplegia	410	ARSA
HP:0030182	Tetraplegia/tetraparesis	410	ARSA
HP:0003393	Thenar muscle atrophy	80208	SPG11
HP:0000574	Thick eyebrow	57492	ARID1B
HP:0000574	Thick eyebrow	2799	GNS
HP:0000179	Thick lower lip vermilion	57492	ARID1B
HP:0000179	Thick lower lip vermilion	2006	ELN
HP:0000179	Thick lower lip vermilion	23522	KAT6B
HP:0000179	Thick lower lip vermilion	2799	GNS
HP:0009928	Thick nasal alae	57492	ARID1B
HP:0012471	Thick vermilion border	8318	CDC45
HP:0012471	Thick vermilion border	57492	ARID1B
HP:0012471	Thick vermilion border	2006	ELN
HP:0012471	Thick vermilion border	23522	KAT6B
HP:0012471	Thick vermilion border	2799	GNS
HP:0002684	Thickened calvaria	2778	GNAS
HP:0000391	Thickened helices	23522	KAT6B
HP:0000474	Thickened nuchal skin fold	23522	KAT6B
HP:0000474	Thickened nuchal skin fold	9321	TRIP11
HP:0000900	Thickened ribs	2799	GNS
HP:0001072	Thickened skin	6768	ST14
HP:0001072	Thickened skin	118429	ANTXR2
HP:0001072	Thickened skin	57609	DIP2B
HP:0001072	Thickened skin	9526	MPDU1
HP:0001072	Thickened skin	7486	WRN
HP:0001072	Thickened skin	79719	AAGAB
HP:0001072	Thickened skin	5506	PPP1R3A
HP:0001072	Thickened skin	10682	EBP
HP:0001072	Thickened skin	3561	IL2RG
HP:0001072	Thickened skin	4607	MYBPC3
HP:0045074	Thin eyebrow	1954	MEGF8
HP:0045074	Thin eyebrow	10682	EBP
HP:0045074	Thin eyebrow	126792	B3GALT6
HP:0045074	Thin eyebrow	1909	EDNRA
HP:0045074	Thin eyebrow	8318	CDC45
HP:0000963	Thin skin	126792	B3GALT6
HP:0000963	Thin skin	2778	GNAS
HP:0000219	Thin upper lip vermilion	7681	MKRN3
HP:0000219	Thin upper lip vermilion	23394	ADNP
HP:0000219	Thin upper lip vermilion	10084	PQBP1
HP:0000219	Thin upper lip vermilion	613	BCR
HP:0000219	Thin upper lip vermilion	57492	ARID1B
HP:0000219	Thin upper lip vermilion	51660	MPC1
HP:0000219	Thin upper lip vermilion	83696	TRAPPC9
HP:0000233	Thin vermilion border	7681	MKRN3
HP:0000233	Thin vermilion border	23394	ADNP
HP:0000233	Thin vermilion border	10084	PQBP1
HP:0000233	Thin vermilion border	613	BCR
HP:0000233	Thin vermilion border	10370	CITED2
HP:0000233	Thin vermilion border	57492	ARID1B
HP:0000233	Thin vermilion border	51660	MPC1
HP:0000233	Thin vermilion border	83696	TRAPPC9
HP:0004962	Thoracic aorta calcification	4091	SMAD6
HP:0012727	Thoracic aortic aneurysm	10516	FBLN5
HP:0012727	Thoracic aortic aneurysm	2006	ELN
HP:0012727	Thoracic aortic aneurysm	4091	SMAD6
HP:0005257	Thoracic hypoplasia	9321	TRIP11
HP:0005257	Thoracic hypoplasia	112752	IFT43
HP:0005659	Thoracic kyphoscoliosis	6660	SOX5
HP:0002943	Thoracic scoliosis	6660	SOX5
HP:0002943	Thoracic scoliosis	5932	RBBP8
HP:0002944	Thoracolumbar scoliosis	51199	NIN
HP:0001873	Thrombocytopenia	613	BCR
HP:0001873	Thrombocytopenia	1130	LYST
HP:0001873	Thrombocytopenia	2189	FANCG
HP:0001873	Thrombocytopenia	6899	TBX1
HP:0001873	Thrombocytopenia	22852	ANKRD26
HP:0001873	Thrombocytopenia	57167	SALL4
HP:0001873	Thrombocytopenia	25939	SAMHD1
HP:0001873	Thrombocytopenia	57697	FANCM
HP:0001873	Thrombocytopenia	6575	SLC20A2
HP:0001873	Thrombocytopenia	7128	TNFAIP3
HP:0001873	Thrombocytopenia	4594	MUT
HP:0001894	Thrombocytosis	613	BCR
HP:0001894	Thrombocytosis	811	CALR
HP:0001894	Thrombocytosis	9652	TTC37
HP:0008191	Thyroid agenesis	23522	KAT6B
HP:0002890	Thyroid carcinoma	7486	WRN
HP:0008188	Thyroid dysgenesis	23522	KAT6B
HP:0005990	Thyroid hypoplasia	23522	KAT6B
HP:0100646	Thyroiditis	3561	IL2RG
HP:0002982	Tibial bowing	5130	PCYT1A
HP:0100499	Tibial deviation of toes	9775	EIF4A3
HP:0100033	Tics	613	BCR
HP:0030051	Tip-toe gait	80208	SPG11
HP:0001863	Toe clinodactyly	6049	RNF6
HP:0001770	Toe syndactyly	6660	SOX5
HP:0001770	Toe syndactyly	5932	RBBP8
HP:0001770	Toe syndactyly	57167	SALL4
HP:0001770	Toe syndactyly	57697	FANCM
HP:0001770	Toe syndactyly	613	BCR
HP:0001770	Toe syndactyly	8318	CDC45
HP:0001770	Toe syndactyly	2189	FANCG
HP:0001770	Toe syndactyly	1954	MEGF8
HP:0001770	Toe syndactyly	10682	EBP
HP:0001664	Torsade de pointes	9992	KCNE2
HP:0001304	Torsion dystonia	1861	TOR1A
HP:0000473	Torticollis	1861	TOR1A
HP:0100603	Toxemia of pregnancy	5506	PPP1R3A
HP:0002787	Tracheal calcification	10682	EBP
HP:0002777	Tracheal stenosis	10682	EBP
HP:0002786	Tracheobronchomalacia	79813	EHMT1
HP:0002575	Tracheoesophageal fistula	1536	CYBB
HP:0002575	Tracheoesophageal fistula	2189	FANCG
HP:0002575	Tracheoesophageal fistula	8516	ITGA8
HP:0002575	Tracheoesophageal fistula	2006	ELN
HP:0002575	Tracheoesophageal fistula	57697	FANCM
HP:0002779	Tracheomalacia	79813	EHMT1
HP:0002326	Transient ischemic attack	2006	ELN
HP:0002326	Transient ischemic attack	811	CALR
HP:0006740	Transitional cell carcinoma of the bladder	79719	AAGAB
HP:0001669	Transposition of the great arteries	1954	MEGF8
HP:0001669	Transposition of the great arteries	6899	TBX1
HP:0001337	Tremor	2566	GABRG2
HP:0001337	Tremor	1130	LYST
HP:0001337	Tremor	8913	CACNA1G
HP:0001337	Tremor	55532	SLC30A10
HP:0001337	Tremor	79600	TCTN1
HP:0001337	Tremor	1861	TOR1A
HP:0001337	Tremor	80208	SPG11
HP:0001337	Tremor	6531	SLC6A3
HP:0001337	Tremor	6575	SLC20A2
HP:0001337	Tremor	9150	CTDP1
HP:0001337	Tremor	2006	ELN
HP:0000325	Triangular face	57492	ARID1B
HP:0000325	Triangular face	9184	BUB3
HP:0000325	Triangular face	23522	KAT6B
HP:0000325	Triangular face	10084	PQBP1
HP:0009774	Triangular shaped phalanges of the hand	57167	SALL4
HP:0009774	Triangular shaped phalanges of the hand	57697	FANCM
HP:0009774	Triangular shaped phalanges of the hand	1123	CHN1
HP:0009774	Triangular shaped phalanges of the hand	4488	MSX2
HP:0009774	Triangular shaped phalanges of the hand	2189	FANCG
HP:0009774	Triangular shaped phalanges of the hand	1954	MEGF8
HP:0009774	Triangular shaped phalanges of the hand	2254	FGF9
HP:0009774	Triangular shaped phalanges of the hand	2778	GNAS
HP:0009886	Trichorrhexis nodosa	9652	TTC37
HP:0011662	Tricuspid atresia	6899	TBX1
HP:0000243	Trigonocephaly	1954	MEGF8
HP:0000243	Trigonocephaly	4488	MSX2
HP:0000243	Trigonocephaly	7546	ZIC2
HP:0001199	Triphalangeal thumb	4488	MSX2
HP:0001199	Triphalangeal thumb	2189	FANCG
HP:0001199	Triphalangeal thumb	57167	SALL4
HP:0001199	Triphalangeal thumb	57697	FANCM
HP:0001199	Triphalangeal thumb	1123	CHN1
HP:0000211	Trismus	1909	EDNRA
HP:0010459	True hermaphroditism	6736	SRY
HP:0002078	Truncal ataxia	255928	SYT14
HP:0001956	Truncal obesity	2778	GNAS
HP:0001956	Truncal obesity	83696	TRAPPC9
HP:0001660	Truncus arteriosus	613	BCR
HP:0001660	Truncus arteriosus	6899	TBX1
HP:0001969	Tubulointerstitial abnormality	2006	ELN
HP:0001969	Tubulointerstitial abnormality	4594	MUT
HP:0001970	Tubulointerstitial nephritis	4594	MUT
HP:0000262	Turricephaly	4488	MSX2
HP:0000262	Turricephaly	1954	MEGF8
HP:0000262	Turricephaly	6899	TBX1
HP:0009370	Type A brachydactyly	5932	RBBP8
HP:0005978	Type II diabetes mellitus	7681	MKRN3
HP:0005978	Type II diabetes mellitus	5148	PDE6G
HP:0005978	Type II diabetes mellitus	7486	WRN
HP:0005978	Type II diabetes mellitus	5506	PPP1R3A
HP:0005978	Type II diabetes mellitus	346007	EYS
HP:0005978	Type II diabetes mellitus	6295	SAG
HP:0005978	Type II diabetes mellitus	2006	ELN
HP:0005978	Type II diabetes mellitus	64218	SEMA4A
HP:0010806	U-Shaped upper lip vermilion	79813	EHMT1
HP:0001178	Ulnar claw	81846	SBF2
HP:0009465	Ulnar deviation of finger	613	BCR
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	613	BCR
HP:0001537	Umbilical hernia	10516	FBLN5
HP:0001537	Umbilical hernia	57697	FANCM
HP:0001537	Umbilical hernia	9321	TRIP11
HP:0001537	Umbilical hernia	2189	FANCG
HP:0001537	Umbilical hernia	57492	ARID1B
HP:0001537	Umbilical hernia	1954	MEGF8
HP:0001537	Umbilical hernia	2006	ELN
HP:0001537	Umbilical hernia	6899	TBX1
HP:0000430	Underdeveloped nasal alae	613	BCR
HP:0000430	Underdeveloped nasal alae	6899	TBX1
HP:0000430	Underdeveloped nasal alae	1908	EDN3
HP:0009891	Underdeveloped supraorbital ridges	10370	CITED2
HP:0009891	Underdeveloped supraorbital ridges	83696	TRAPPC9
HP:0009891	Underdeveloped supraorbital ridges	9652	TTC37
HP:0000550	Undetectable electroretinogram	346007	EYS
HP:0011315	Unicoronal synostosis	4488	MSX2
HP:0100333	Unilateral cleft lip	7341	SUMO1
HP:0100334	Unilateral cleft palate	7341	SUMO1
HP:0012741	Unilateral cryptorchidism	6736	SRY
HP:0006549	Unilateral primary pulmonary dysgenesis	6899	TBX1
HP:0000122	Unilateral renal agenesis	6899	TBX1
HP:0004606	Unossified vertebral bodies	9321	TRIP11
HP:0002317	Unsteady gait	8913	CACNA1G
HP:0002317	Unsteady gait	1917	EEF1A2
HP:0030310	Upper extremity joint dislocation	57492	ARID1B
HP:0030310	Upper extremity joint dislocation	126792	B3GALT6
HP:0030310	Upper extremity joint dislocation	8318	CDC45
HP:0009129	Upper limb amyotrophy	80208	SPG11
HP:0009016	Upper limb muscle hypoplasia	57167	SALL4
HP:0009824	Upper limb undergrowth	2189	FANCG
HP:0009824	Upper limb undergrowth	9775	EIF4A3
HP:0009824	Upper limb undergrowth	57167	SALL4
HP:0009824	Upper limb undergrowth	57697	FANCM
HP:0009824	Upper limb undergrowth	1123	CHN1
HP:0009824	Upper limb undergrowth	9321	TRIP11
HP:0002493	Upper motor neuron dysfunction	10300	KATNB1
HP:0002493	Upper motor neuron dysfunction	2189	FANCG
HP:0002493	Upper motor neuron dysfunction	6295	SAG
HP:0002493	Upper motor neuron dysfunction	55532	SLC30A10
HP:0002493	Upper motor neuron dysfunction	4361	MRE11
HP:0002493	Upper motor neuron dysfunction	288	ANK3
HP:0002493	Upper motor neuron dysfunction	80208	SPG11
HP:0002493	Upper motor neuron dysfunction	57697	FANCM
HP:0002493	Upper motor neuron dysfunction	10617	STAMBP
HP:0002493	Upper motor neuron dysfunction	6531	SLC6A3
HP:0002493	Upper motor neuron dysfunction	410	ARSA
HP:0002493	Upper motor neuron dysfunction	6575	SLC20A2
HP:0002493	Upper motor neuron dysfunction	4594	MUT
HP:0002493	Upper motor neuron dysfunction	6687	SPG7
HP:0002493	Upper motor neuron dysfunction	4729	NDUFV2
HP:0002493	Upper motor neuron dysfunction	8913	CACNA1G
HP:0002493	Upper motor neuron dysfunction	64218	SEMA4A
HP:0002493	Upper motor neuron dysfunction	9150	CTDP1
HP:0002493	Upper motor neuron dysfunction	5119	CHMP1A
HP:0002493	Upper motor neuron dysfunction	5130	PCYT1A
HP:0002493	Upper motor neuron dysfunction	5148	PDE6G
HP:0002493	Upper motor neuron dysfunction	1130	LYST
HP:0002493	Upper motor neuron dysfunction	7443	VRK1
HP:0002493	Upper motor neuron dysfunction	9526	MPDU1
HP:0002493	Upper motor neuron dysfunction	25939	SAMHD1
HP:0002493	Upper motor neuron dysfunction	54820	NDE1
HP:0002493	Upper motor neuron dysfunction	56922	MCCC1
HP:0002493	Upper motor neuron dysfunction	5723	PSPH
HP:0002493	Upper motor neuron dysfunction	3798	KIF5A
HP:0002493	Upper motor neuron dysfunction	1861	TOR1A
HP:0002493	Upper motor neuron dysfunction	126792	B3GALT6
HP:0002493	Upper motor neuron dysfunction	10084	PQBP1
HP:0002493	Upper motor neuron dysfunction	55180	LINS1
HP:0002493	Upper motor neuron dysfunction	346007	EYS
HP:0002493	Upper motor neuron dysfunction	2006	ELN
HP:0000582	Upslanted palpebral fissure	7681	MKRN3
HP:0000582	Upslanted palpebral fissure	57697	FANCM
HP:0000582	Upslanted palpebral fissure	10084	PQBP1
HP:0000582	Upslanted palpebral fissure	283489	CHAMP1
HP:0000582	Upslanted palpebral fissure	7546	ZIC2
HP:0000582	Upslanted palpebral fissure	2189	FANCG
HP:0000582	Upslanted palpebral fissure	57492	ARID1B
HP:0000582	Upslanted palpebral fissure	1954	MEGF8
HP:0000582	Upslanted palpebral fissure	79813	EHMT1
HP:0000582	Upslanted palpebral fissure	6899	TBX1
HP:0000796	Urethral obstruction	2006	ELN
HP:0000796	Urethral obstruction	6899	TBX1
HP:0000796	Urethral obstruction	8318	CDC45
HP:0008661	Urethral stenosis	2006	ELN
HP:0008661	Urethral stenosis	6899	TBX1
HP:0008661	Urethral stenosis	8318	CDC45
HP:0012227	Urethral stricture	8318	CDC45
HP:0002839	Urinary bladder sphincter dysfunction	80208	SPG11
HP:0002839	Urinary bladder sphincter dysfunction	3798	KIF5A
HP:0002839	Urinary bladder sphincter dysfunction	6687	SPG7
HP:0003541	Urinary glycosaminoglycan excretion	2799	GNS
HP:0000020	Urinary incontinence	410	ARSA
HP:0000020	Urinary incontinence	6687	SPG7
HP:0000020	Urinary incontinence	6305	SBF1
HP:0000020	Urinary incontinence	6575	SLC20A2
HP:0000020	Urinary incontinence	8913	CACNA1G
HP:0000020	Urinary incontinence	80208	SPG11
HP:0000020	Urinary incontinence	3798	KIF5A
HP:0010786	Urinary tract neoplasm	7486	WRN
HP:0010786	Urinary tract neoplasm	6736	SRY
HP:0010786	Urinary tract neoplasm	79719	AAGAB
HP:0010786	Urinary tract neoplasm	9184	BUB3
HP:0000012	Urinary urgency	8913	CACNA1G
HP:0000012	Urinary urgency	80208	SPG11
HP:0000012	Urinary urgency	3798	KIF5A
HP:0000012	Urinary urgency	6687	SPG7
HP:0100589	Urogenital fistula	8516	ITGA8
HP:0100589	Urogenital fistula	57167	SALL4
HP:0100589	Urogenital fistula	9361	LONP1
HP:0100779	Urogenital sinus anomaly	6736	SRY
HP:0001025	Urticaria	118429	ANTXR2
HP:0001025	Urticaria	5156	PDGFRA
HP:0001025	Urticaria	23534	TNPO3
HP:0010784	Uterine neoplasm	6736	SRY
HP:0000554	Uveitis	10892	MALT1
HP:0000554	Uveitis	7128	TNFAIP3
HP:0000148	Vaginal atresia	8516	ITGA8
HP:0004320	Vaginal fistula	57167	SALL4
HP:0004320	Vaginal fistula	9361	LONP1
HP:0100650	Vaginal neoplasm	9184	BUB3
HP:0012870	Vanishing testis	6736	SRY
HP:0003828	Variable expressivity	2566	GABRG2
HP:0003828	Variable expressivity	1605	DAG1
HP:0003828	Variable expressivity	118429	ANTXR2
HP:0003828	Variable expressivity	2778	GNAS
HP:0003828	Variable expressivity	55532	SLC30A10
HP:0003828	Variable expressivity	4361	MRE11
HP:0003828	Variable expressivity	25939	SAMHD1
HP:0003828	Variable expressivity	6496	SIX3
HP:0003828	Variable expressivity	10682	EBP
HP:0003828	Variable expressivity	51660	MPC1
HP:0002619	Varicose veins	6899	TBX1
HP:0004934	Vascular calcification	3949	LDLR
HP:0004934	Vascular calcification	6575	SLC20A2
HP:0004934	Vascular calcification	4091	SMAD6
HP:0100742	Vascular neoplasm	57492	ARID1B
HP:0011276	Vascular skin abnormality	5156	PDGFRA
HP:0011276	Vascular skin abnormality	1130	LYST
HP:0011276	Vascular skin abnormality	57492	ARID1B
HP:0011276	Vascular skin abnormality	3257	HPS1
HP:0011276	Vascular skin abnormality	4361	MRE11
HP:0011276	Vascular skin abnormality	7486	WRN
HP:0011276	Vascular skin abnormality	22852	ANKRD26
HP:0011276	Vascular skin abnormality	5506	PPP1R3A
HP:0011276	Vascular skin abnormality	6575	SLC20A2
HP:0011276	Vascular skin abnormality	10682	EBP
HP:0011276	Vascular skin abnormality	118429	ANTXR2
HP:0011276	Vascular skin abnormality	2778	GNAS
HP:0011276	Vascular skin abnormality	6899	TBX1
HP:0011276	Vascular skin abnormality	2006	ELN
HP:0011276	Vascular skin abnormality	23534	TNPO3
HP:0004948	Vascular tortuosity	10516	FBLN5
HP:0002633	Vasculitis	3426	CFI
HP:0000220	Velopharyngeal insufficiency	6899	TBX1
HP:0005293	Venous insufficiency	6899	TBX1
HP:0004936	Venous thrombosis	5156	PDGFRA
HP:0004936	Venous thrombosis	811	CALR
HP:0004308	Ventricular arrhythmia	9992	KCNE2
HP:0004308	Ventricular arrhythmia	781	CACNA2D1
HP:0004308	Ventricular arrhythmia	1837	DTNA
HP:0004308	Ventricular arrhythmia	79188	TMEM43
HP:0006682	Ventricular extrasystoles	79188	TMEM43
HP:0001663	Ventricular fibrillation	9992	KCNE2
HP:0001663	Ventricular fibrillation	781	CACNA2D1
HP:0001714	Ventricular hypertrophy	1837	DTNA
HP:0001714	Ventricular hypertrophy	2778	GNAS
HP:0001714	Ventricular hypertrophy	57592	ZNF687
HP:0001714	Ventricular hypertrophy	10617	STAMBP
HP:0001629	Ventricular septal defect	613	BCR
HP:0001629	Ventricular septal defect	8318	CDC45
HP:0001629	Ventricular septal defect	10370	CITED2
HP:0001629	Ventricular septal defect	9361	LONP1
HP:0001629	Ventricular septal defect	57492	ARID1B
HP:0001629	Ventricular septal defect	6899	TBX1
HP:0001629	Ventricular septal defect	1837	DTNA
HP:0001629	Ventricular septal defect	126792	B3GALT6
HP:0001629	Ventricular septal defect	57167	SALL4
HP:0001629	Ventricular septal defect	10084	PQBP1
HP:0001629	Ventricular septal defect	10617	STAMBP
HP:0001629	Ventricular septal defect	9652	TTC37
HP:0001629	Ventricular septal defect	2006	ELN
HP:0001629	Ventricular septal defect	23522	KAT6B
HP:0004756	Ventricular tachycardia	79188	TMEM43
HP:0002119	Ventriculomegaly	7681	MKRN3
HP:0002119	Ventriculomegaly	54820	NDE1
HP:0002119	Ventriculomegaly	10300	KATNB1
HP:0002119	Ventriculomegaly	1605	DAG1
HP:0002119	Ventriculomegaly	2683	B4GALT1
HP:0002119	Ventriculomegaly	2189	FANCG
HP:0002119	Ventriculomegaly	57492	ARID1B
HP:0002119	Ventriculomegaly	80208	SPG11
HP:0002119	Ventriculomegaly	57697	FANCM
HP:0002119	Ventriculomegaly	6575	SLC20A2
HP:0002119	Ventriculomegaly	10682	EBP
HP:0002119	Ventriculomegaly	9150	CTDP1
HP:0002119	Ventriculomegaly	79813	EHMT1
HP:0002119	Ventriculomegaly	9184	BUB3
HP:0200043	Verrucae	56262	LRRC8A
HP:0008428	Vertebral clefting	6660	SOX5
HP:0008428	Vertebral clefting	9361	LONP1
HP:0002948	Vertebral fusion	6660	SOX5
HP:0002948	Vertebral fusion	57167	SALL4
HP:0002948	Vertebral fusion	1123	CHN1
HP:0003422	Vertebral segmentation defect	6660	SOX5
HP:0003422	Vertebral segmentation defect	57167	SALL4
HP:0003422	Vertebral segmentation defect	1123	CHN1
HP:0003422	Vertebral segmentation defect	10682	EBP
HP:0003422	Vertebral segmentation defect	2006	ELN
HP:0000076	Vesicoureteral reflux	10516	FBLN5
HP:0000076	Vesicoureteral reflux	64321	SOX17
HP:0000076	Vesicoureteral reflux	57167	SALL4
HP:0000076	Vesicoureteral reflux	10617	STAMBP
HP:0000076	Vesicoureteral reflux	8318	CDC45
HP:0000076	Vesicoureteral reflux	79813	EHMT1
HP:0000076	Vesicoureteral reflux	2006	ELN
HP:0000076	Vesicoureteral reflux	6899	TBX1
HP:0001751	Vestibular dysfunction	10518	CIB2
HP:0001751	Vestibular dysfunction	4646	MYO6
HP:0001751	Vestibular dysfunction	124590	USH1G
HP:0001756	Vestibular hypofunction	124590	USH1G
HP:0001756	Vestibular hypofunction	10518	CIB2
HP:0011473	Villous atrophy	4261	CIITA
HP:0011473	Villous atrophy	4645	MYO5B
HP:0011473	Villous atrophy	9652	TTC37
HP:0006562	Viral hepatitis	4261	CIITA
HP:0003271	Visceromegaly	5156	PDGFRA
HP:0003271	Visceromegaly	1130	LYST
HP:0003271	Visceromegaly	55532	SLC30A10
HP:0003271	Visceromegaly	80270	HSD3B7
HP:0003271	Visceromegaly	6575	SLC20A2
HP:0003271	Visceromegaly	9652	TTC37
HP:0003271	Visceromegaly	445	ASS1
HP:0003271	Visceromegaly	51660	MPC1
HP:0003271	Visceromegaly	3561	IL2RG
HP:0003271	Visceromegaly	4594	MUT
HP:0003271	Visceromegaly	1536	CYBB
HP:0003271	Visceromegaly	613	BCR
HP:0003271	Visceromegaly	2799	GNS
HP:0003271	Visceromegaly	6899	TBX1
HP:0003271	Visceromegaly	83737	ITCH
HP:0003271	Visceromegaly	811	CALR
HP:0003271	Visceromegaly	4023	LPL
HP:0003271	Visceromegaly	23522	KAT6B
HP:0011165	Visual auras	7957	EPM2A
HP:0001123	Visual field defect	5130	PCYT1A
HP:0001123	Visual field defect	10518	CIB2
HP:0001123	Visual field defect	5148	PDE6G
HP:0001123	Visual field defect	4488	MSX2
HP:0001123	Visual field defect	346007	EYS
HP:0001123	Visual field defect	1181	CLCN2
HP:0001123	Visual field defect	124590	USH1G
HP:0001123	Visual field defect	64218	SEMA4A
HP:0002367	Visual hallucinations	7957	EPM2A
HP:0000505	Visual impairment	5130	PCYT1A
HP:0000505	Visual impairment	5148	PDE6G
HP:0000505	Visual impairment	1130	LYST
HP:0000505	Visual impairment	2189	FANCG
HP:0000505	Visual impairment	57492	ARID1B
HP:0000505	Visual impairment	6295	SAG
HP:0000505	Visual impairment	3257	HPS1
HP:0000505	Visual impairment	80208	SPG11
HP:0000505	Visual impairment	57697	FANCM
HP:0000505	Visual impairment	6736	SRY
HP:0000505	Visual impairment	4729	NDUFV2
HP:0000505	Visual impairment	10892	MALT1
HP:0000505	Visual impairment	3798	KIF5A
HP:0000505	Visual impairment	2778	GNAS
HP:0000505	Visual impairment	64218	SEMA4A
HP:0000505	Visual impairment	57167	SALL4
HP:0000505	Visual impairment	23394	ADNP
HP:0000505	Visual impairment	10084	PQBP1
HP:0000505	Visual impairment	346007	EYS
HP:0000505	Visual impairment	51128	SAR1B
HP:0000505	Visual impairment	2006	ELN
HP:0000505	Visual impairment	5119	CHMP1A
HP:0000572	Visual loss	5130	PCYT1A
HP:0000572	Visual loss	7957	EPM2A
HP:0000572	Visual loss	10518	CIB2
HP:0000572	Visual loss	5230	PGK1
HP:0000572	Visual loss	124590	USH1G
HP:0000572	Visual loss	4047	LSS
HP:0000572	Visual loss	64218	SEMA4A
HP:0004905	Vitamin A deficiency	53630	BCO1
HP:0001605	Vocal cord paralysis	2006	ELN
HP:0001604	Vocal cord paresis	9361	LONP1
HP:0002013	Vomiting	56922	MCCC1
HP:0002013	Vomiting	4729	NDUFV2
HP:0002013	Vomiting	23417	MLYCD
HP:0002013	Vomiting	4023	LPL
HP:0002013	Vomiting	51128	SAR1B
HP:0002013	Vomiting	445	ASS1
HP:0002013	Vomiting	4594	MUT
HP:0002013	Vomiting	26873	OPLAH
HP:0001612	Weak cry	3908	LAMA2
HP:0010549	Weakness due to upper motor neuron dysfunction	5130	PCYT1A
HP:0010549	Weakness due to upper motor neuron dysfunction	6687	SPG7
HP:0010549	Weakness due to upper motor neuron dysfunction	3798	KIF5A
HP:0010549	Weakness due to upper motor neuron dysfunction	55532	SLC30A10
HP:0010549	Weakness due to upper motor neuron dysfunction	126792	B3GALT6
HP:0010549	Weakness due to upper motor neuron dysfunction	80208	SPG11
HP:0010549	Weakness due to upper motor neuron dysfunction	25939	SAMHD1
HP:0010549	Weakness due to upper motor neuron dysfunction	410	ARSA
HP:0010549	Weakness due to upper motor neuron dysfunction	4594	MUT
HP:0030319	Weakness of facial musculature	3908	LAMA2
HP:0030319	Weakness of facial musculature	57167	SALL4
HP:0004347	Weakness of muscles of respiration	3908	LAMA2
HP:0004347	Weakness of muscles of respiration	80208	SPG11
HP:0000465	Webbed neck	1954	MEGF8
HP:0000465	Webbed neck	6736	SRY
HP:0000465	Webbed neck	23522	KAT6B
HP:0000465	Webbed neck	1123	CHN1
HP:0001824	Weight loss	10892	MALT1
HP:0001824	Weight loss	2189	FANCG
HP:0001824	Weight loss	5932	RBBP8
HP:0001824	Weight loss	57697	FANCM
HP:0001824	Weight loss	1908	EDN3
HP:0002226	White eyebrow	1908	EDN3
HP:0002227	White eyelashes	1908	EDN3
HP:0002211	White forelock	1908	EDN3
HP:0002211	White forelock	7486	WRN
HP:0011364	White hair	1130	LYST
HP:0000260	Wide anterior fontanel	8318	CDC45
HP:0010537	Wide cranial sutures	4488	MSX2
HP:0006610	Wide intermamillary distance	57492	ARID1B
HP:0006610	Wide intermamillary distance	1954	MEGF8
HP:0006610	Wide intermamillary distance	6736	SRY
HP:0006610	Wide intermamillary distance	23522	KAT6B
HP:0000154	Wide mouth	57492	ARID1B
HP:0000154	Wide mouth	9652	TTC37
HP:0000154	Wide mouth	2006	ELN
HP:0000154	Wide mouth	2799	GNS
HP:0000431	Wide nasal bridge	6660	SOX5
HP:0000431	Wide nasal bridge	5148	PDE6G
HP:0000431	Wide nasal bridge	1123	CHN1
HP:0000431	Wide nasal bridge	57492	ARID1B
HP:0000431	Wide nasal bridge	6295	SAG
HP:0000431	Wide nasal bridge	64218	SEMA4A
HP:0000431	Wide nasal bridge	83696	TRAPPC9
HP:0000431	Wide nasal bridge	6899	TBX1
HP:0000431	Wide nasal bridge	126792	B3GALT6
HP:0000431	Wide nasal bridge	23394	ADNP
HP:0000431	Wide nasal bridge	10084	PQBP1
HP:0000431	Wide nasal bridge	1908	EDN3
HP:0000431	Wide nasal bridge	1909	EDNRA
HP:0000431	Wide nasal bridge	346007	EYS
HP:0000431	Wide nasal bridge	1954	MEGF8
HP:0000431	Wide nasal bridge	2006	ELN
HP:0000445	Wide nose	9652	TTC37
HP:0000445	Wide nose	9184	BUB3
HP:0000445	Wide nose	23522	KAT6B
HP:0000445	Wide nose	6899	TBX1
HP:0000445	Wide nose	10617	STAMBP
HP:0004492	Widely patent fontanelles and sutures	4488	MSX2
HP:0000687	Widely spaced teeth	112752	IFT43
HP:0005445	Widened posterior fossa	1605	DAG1
HP:0005445	Widened posterior fossa	2683	B4GALT1
HP:0005445	Widened posterior fossa	57492	ARID1B
HP:0005445	Widened posterior fossa	10682	EBP
HP:0005445	Widened posterior fossa	9184	BUB3
HP:0002224	Woolly hair	9652	TTC37
HP:0002645	Wormian bones	10516	FBLN5
HP:0002356	Writer's cramp	1861	TOR1A
HP:0001423	X-linked dominant inheritance	10682	EBP
HP:0001423	X-linked dominant inheritance	4729	NDUFV2
HP:0001417	X-linked inheritance	1536	CYBB
HP:0001417	X-linked inheritance	5230	PGK1
HP:0001417	X-linked inheritance	4729	NDUFV2
HP:0001417	X-linked inheritance	10084	PQBP1
HP:0001417	X-linked inheritance	10682	EBP
HP:0001417	X-linked inheritance	3561	IL2RG
HP:0001419	X-linked recessive inheritance	1536	CYBB
HP:0001419	X-linked recessive inheritance	10084	PQBP1
HP:0001419	X-linked recessive inheritance	5230	PGK1
HP:0001419	X-linked recessive inheritance	10682	EBP
HP:0001419	X-linked recessive inheritance	3561	IL2RG
HP:0001114	Xanthelasma	4023	LPL
HP:0001114	Xanthelasma	3949	LDLR
HP:0000991	Xanthomatosis	3949	LDLR
HP:0000991	Xanthomatosis	4023	LPL
HP:0001450	Y-linked inheritance	6736	SRY
HP:0001450	Y-linked inheritance	8287	USP9Y
HP:0030506	Yellow/white lesions of the retina	10516	FBLN5
HP:0010920	Zonular cataract	1414	CRYBB1
