#Format: entrez-gene-id<tab>entrez-gene-symbol<tab>HPO-Term-Name<tab>HPO-Term-ID
8287	USP9Y	Male infertility	HP:0003251
8287	USP9Y	Non-obstructive azoospermia	HP:0011961
8287	USP9Y	Y-linked inheritance	HP:0001450
8287	USP9Y	Azoospermia	HP:0000027
8287	USP9Y	Cryptorchidism	HP:0000028
8287	USP9Y	Decreased testicular size	HP:0008734
8287	USP9Y	Oligospermia	HP:0000798
102	ADAM10	Autosomal dominant inheritance	HP:0000006
8318	CDC45	Duodenal stenosis	HP:0100867
8318	CDC45	Microtia, third degree	HP:0011267
8318	CDC45	Abnormality of the ribs	HP:0000772
8318	CDC45	Aplastic clavicles	HP:0006660
8318	CDC45	Wide anterior fontanel	HP:0000260
8318	CDC45	Autosomal recessive inheritance	HP:0000007
8318	CDC45	Proptosis	HP:0000520
8318	CDC45	Complete atrioventricular canal defect	HP:0001674
8318	CDC45	Camptodactyly of finger	HP:0100490
8318	CDC45	High, narrow palate	HP:0002705
8318	CDC45	Thin eyebrow	HP:0045074
8318	CDC45	Retrognathia	HP:0000278
8318	CDC45	Slender long bone	HP:0003100
8318	CDC45	Cryptorchidism	HP:0000028
8318	CDC45	Atresia of the external auditory canal	HP:0000413
8318	CDC45	Hypoplasia of penis	HP:0008736
8318	CDC45	Narrow mouth	HP:0000160
8318	CDC45	Myopia	HP:0000545
8318	CDC45	Preaxial polydactyly	HP:0100258
8318	CDC45	Bowing of the legs	HP:0002979
8318	CDC45	Anotia	HP:0009892
8318	CDC45	Epispadias	HP:0000039
8318	CDC45	Pulmonary hypoplasia	HP:0002089
8318	CDC45	Abnormality of epiphysis morphology	HP:0005930
8318	CDC45	Patellar aplasia	HP:0006443
8318	CDC45	Breast aplasia	HP:0100783
8318	CDC45	Hypospadias	HP:0000047
8318	CDC45	Cleft palate	HP:0000175
8318	CDC45	Submucous cleft hard palate	HP:0000176
8318	CDC45	Specific learning disability	HP:0001328
8318	CDC45	Respiratory distress	HP:0002098
8318	CDC45	Severe short stature	HP:0003510
8318	CDC45	Micropenis	HP:0000054
8318	CDC45	Thick vermilion border	HP:0012471
8318	CDC45	Hypoplastic labia majora	HP:0000059
8318	CDC45	Arnold-Chiari type I malformation	HP:0007099
8318	CDC45	Clitoral hypoplasia	HP:0000060
8318	CDC45	Joint hyperflexibility	HP:0005692
8318	CDC45	Respiratory failure	HP:0002878
8318	CDC45	Delayed skeletal maturation	HP:0002750
8318	CDC45	Feeding difficulties	HP:0011968
8318	CDC45	Hypoplastic labia minora	HP:0000064
8318	CDC45	Bifid uvula	HP:0000193
8318	CDC45	Clubbing	HP:0001217
8318	CDC45	Urethral stricture	HP:0012227
8318	CDC45	Choanal atresia	HP:0000453
8318	CDC45	Hypoplasia of the maxilla	HP:0000327
8318	CDC45	Vesicoureteral reflux	HP:0000076
8318	CDC45	Craniosynostosis	HP:0001363
8318	CDC45	Mandibular aplasia	HP:0009939
8318	CDC45	2-3 toe syndactyly	HP:0004691
8318	CDC45	Clitoral hypertrophy	HP:0008665
8318	CDC45	Sagittal craniosynostosis	HP:0004442
8318	CDC45	Scoliosis	HP:0002650
8318	CDC45	High palate	HP:0000218
8318	CDC45	Micrognathia	HP:0000347
8318	CDC45	Ventricular septal defect	HP:0001629
8318	CDC45	Atrial septal defect	HP:0001631
8318	CDC45	Intellectual disability	HP:0001249
8318	CDC45	Elbow dislocation	HP:0003042
8318	CDC45	Short stature	HP:0004322
8318	CDC45	Aplasia/Hypoplasia of the patella	HP:0006498
8318	CDC45	Failure to thrive	HP:0001508
8318	CDC45	Decreased body weight	HP:0004325
8318	CDC45	Posteriorly rotated ears	HP:0000358
8318	CDC45	Strabismus	HP:0000486
8318	CDC45	Intrauterine growth retardation	HP:0001511
8318	CDC45	Anal atresia	HP:0002023
8318	CDC45	Microtia	HP:0008551
8318	CDC45	Anal stenosis	HP:0002025
8318	CDC45	Joint laxity	HP:0001388
8318	CDC45	Hearing impairment	HP:0000365
8318	CDC45	Global developmental delay	HP:0001263
8318	CDC45	Low-set ears	HP:0000369
8318	CDC45	Clinodactyly of the 5th finger	HP:0004209
8318	CDC45	Microcephaly	HP:0000252
8318	CDC45	Progressive microcephaly	HP:0000253
57492	ARID1B	Umbilical hernia	HP:0001537
57492	ARID1B	Hemangioma	HP:0001028
57492	ARID1B	Autosomal dominant inheritance	HP:0000006
57492	ARID1B	Intestinal malrotation	HP:0002566
57492	ARID1B	Cataract	HP:0000518
57492	ARID1B	Autosomal recessive inheritance	HP:0000007
57492	ARID1B	Congenital diaphragmatic hernia	HP:0000776
57492	ARID1B	Dislocated radial head	HP:0003083
57492	ARID1B	Long eyelashes	HP:0000527
57492	ARID1B	Intussusception	HP:0002576
57492	ARID1B	Malar flattening	HP:0000272
57492	ARID1B	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	HP:0100371
57492	ARID1B	Lumbosacral hirsutism	HP:0009747
57492	ARID1B	Inguinal hernia	HP:0000023
57492	ARID1B	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	HP:0009239
57492	ARID1B	Coarse facial features	HP:0000280
57492	ARID1B	Dandy-Walker malformation	HP:0001305
57492	ARID1B	Cryptorchidism	HP:0000028
57492	ARID1B	Duodenal ulcer	HP:0002588
57492	ARID1B	Epicanthus	HP:0000286
57492	ARID1B	Hypoplasia of the corpus callosum	HP:0002079
57492	ARID1B	Gastric ulcer	HP:0002592
57492	ARID1B	Myopia	HP:0000545
57492	ARID1B	Echolalia	HP:0010529
57492	ARID1B	Short distal phalanx of the 5th toe	HP:0100391
57492	ARID1B	Neonatal hypotonia	HP:0001319
57492	ARID1B	Abnormality of epiphysis morphology	HP:0005930
57492	ARID1B	Rocker bottom foot	HP:0001838
57492	ARID1B	Hypospadias	HP:0000047
57492	ARID1B	Specific learning disability	HP:0001328
57492	ARID1B	Dysphasia	HP:0002357
57492	ARID1B	Partial agenesis of the corpus callosum	HP:0001338
57492	ARID1B	Joint hyperflexibility	HP:0005692
57492	ARID1B	Hypertelorism	HP:0000316
57492	ARID1B	Sandal gap	HP:0001852
57492	ARID1B	Alopecia	HP:0001596
57492	ARID1B	Thick eyebrow	HP:0000574
57492	ARID1B	Smooth philtrum	HP:0000319
57492	ARID1B	Short philtrum	HP:0000322
57492	ARID1B	Triangular face	HP:0000325
57492	ARID1B	Blepharophimosis	HP:0000581
57492	ARID1B	Upslanted palpebral fissure	HP:0000582
57492	ARID1B	Ventriculomegaly	HP:0002119
57492	ARID1B	Absence seizures	HP:0002121
57492	ARID1B	Plagiocephaly	HP:0001357
57492	ARID1B	Aphasia	HP:0002381
57492	ARID1B	Status epilepticus	HP:0002133
57492	ARID1B	Ectopic kidney	HP:0000086
57492	ARID1B	Long philtrum	HP:0000343
57492	ARID1B	Hypotelorism	HP:0000601
57492	ARID1B	Renal hypoplasia	HP:0000089
57492	ARID1B	Epileptic spasms	HP:0011097
57492	ARID1B	Scoliosis	HP:0002650
57492	ARID1B	Micrognathia	HP:0000347
57492	ARID1B	Ventricular septal defect	HP:0001629
57492	ARID1B	Prominent interphalangeal joints	HP:0006237
57492	ARID1B	Joint dislocation	HP:0001373
57492	ARID1B	Atrial septal defect	HP:0001631
57492	ARID1B	Aplasia/Hypoplasia of the patella	HP:0006498
57492	ARID1B	Tetralogy of Fallot	HP:0001636
57492	ARID1B	Posteriorly rotated ears	HP:0000358
57492	ARID1B	Patent ductus arteriosus	HP:0001643
57492	ARID1B	Joint laxity	HP:0001388
57492	ARID1B	Broad distal phalanx of finger	HP:0009836
57492	ARID1B	Hearing impairment	HP:0000365
57492	ARID1B	Short sternum	HP:0000879
57492	ARID1B	Low-set, posteriorly rotated ears	HP:0000368
57492	ARID1B	Coxa valga	HP:0002673
57492	ARID1B	Low-set ears	HP:0000369
57492	ARID1B	Clinodactyly of the 5th finger	HP:0004209
57492	ARID1B	Lacrimation abnormality	HP:0000632
57492	ARID1B	Abnormality of the clavicle	HP:0000889
57492	ARID1B	Abnormality of the pinna	HP:0000377
57492	ARID1B	Hydronephrosis	HP:0000126
57492	ARID1B	Nystagmus	HP:0000639
57492	ARID1B	Preauricular skin tag	HP:0000384
57492	ARID1B	Short distal phalanx of the 5th finger	HP:0004227
57492	ARID1B	Brachydactyly	HP:0001156
57492	ARID1B	Camptodactyly of finger	HP:0100490
57492	ARID1B	Abnormality of the metacarpal bones	HP:0001163
57492	ARID1B	High, narrow palate	HP:0002705
57492	ARID1B	Aplasia of the uterus	HP:0000151
57492	ARID1B	Sensorineural hearing impairment	HP:0000407
57492	ARID1B	Clubbing of toes	HP:0100760
57492	ARID1B	Wide mouth	HP:0000154
57492	ARID1B	Short distal phalanx of finger	HP:0009882
57492	ARID1B	Recurrent respiratory infections	HP:0002205
57492	ARID1B	Bulbous nose	HP:0000414
57492	ARID1B	Depressed nasal bridge	HP:0005280
57492	ARID1B	Sparse scalp hair	HP:0002209
57492	ARID1B	Hypoplastic fifth toenail	HP:0011937
57492	ARID1B	Abnormality of the dentition	HP:0000164
57492	ARID1B	Feeding difficulties in infancy	HP:0008872
57492	ARID1B	Slow-growing hair	HP:0002217
57492	ARID1B	External genital hypoplasia	HP:0003241
57492	ARID1B	Facial hypertrichosis	HP:0002219
57492	ARID1B	Delayed eruption of teeth	HP:0000684
57492	ARID1B	Bilateral single transverse palmar creases	HP:0007598
57492	ARID1B	Cleft palate	HP:0000175
57492	ARID1B	Wide nasal bridge	HP:0000431
57492	ARID1B	Thick lower lip vermilion	HP:0000179
57492	ARID1B	Generalized hirsutism	HP:0002230
57492	ARID1B	Severe short stature	HP:0003510
57492	ARID1B	Hernia	HP:0100790
57492	ARID1B	Short palm	HP:0004279
57492	ARID1B	Single transverse palmar crease	HP:0000954
57492	ARID1B	Delayed skeletal maturation	HP:0002750
57492	ARID1B	Narrow nasal bridge	HP:0000446
57492	ARID1B	Sacral dimple	HP:0000960
57492	ARID1B	Aplasia/Hypoplasia of the cerebellum	HP:0007360
57492	ARID1B	Postnatal growth retardation	HP:0008897
57492	ARID1B	Eczema	HP:0000964
57492	ARID1B	Choanal atresia	HP:0000453
57492	ARID1B	Cutis marmorata	HP:0000965
57492	ARID1B	Broad nasal tip	HP:0000455
57492	ARID1B	Abnormality of the hip bone	HP:0003272
57492	ARID1B	Thick nasal alae	HP:0009928
57492	ARID1B	Depressed nasal ridge	HP:0000457
57492	ARID1B	Short palpebral fissure	HP:0012745
57492	ARID1B	Aggressive behavior	HP:0000718
57492	ARID1B	Hypoplastic fifth fingernail	HP:0008398
57492	ARID1B	Severe expressive language delay	HP:0006863
57492	ARID1B	Anteverted nares	HP:0000463
57492	ARID1B	Wide intermamillary distance	HP:0006610
57492	ARID1B	Abnormality of cardiovascular system morphology	HP:0030680
57492	ARID1B	Autistic behavior	HP:0000729
57492	ARID1B	High palate	HP:0000218
57492	ARID1B	Thin upper lip vermilion	HP:0000219
57492	ARID1B	Excessive wrinkled skin	HP:0007392
57492	ARID1B	Abnormal hair pattern	HP:0010720
57492	ARID1B	Intellectual disability	HP:0001249
57492	ARID1B	Spina bifida occulta	HP:0003298
57492	ARID1B	Seizures	HP:0001250
57492	ARID1B	Short stature	HP:0004322
57492	ARID1B	Elbow dislocation	HP:0003042
57492	ARID1B	Astigmatism	HP:0000483
57492	ARID1B	Phenotypic variability	HP:0003812
57492	ARID1B	Muscular hypotonia	HP:0001252
57492	ARID1B	Failure to thrive	HP:0001508
57492	ARID1B	Strabismus	HP:0000486
57492	ARID1B	Renal hypoplasia/aplasia	HP:0008678
57492	ARID1B	Intrauterine growth retardation	HP:0001511
57492	ARID1B	Intellectual disability, mild	HP:0001256
57492	ARID1B	Everted lower lip vermilion	HP:0000232
57492	ARID1B	Thin vermilion border	HP:0000233
57492	ARID1B	Downslanted palpebral fissures	HP:0000494
57492	ARID1B	Hypotrichosis	HP:0001006
57492	ARID1B	Global developmental delay	HP:0001263
57492	ARID1B	Accelerated skeletal maturation	HP:0005616
57492	ARID1B	Curly eyelashes	HP:0007665
57492	ARID1B	Abnormality of the intervertebral disk	HP:0005108
57492	ARID1B	Kyphosis	HP:0002808
57492	ARID1B	Abnormality of vision	HP:0000504
57492	ARID1B	Visual impairment	HP:0000505
57492	ARID1B	Highly arched eyebrow	HP:0002553
57492	ARID1B	Agenesis of corpus callosum	HP:0001274
57492	ARID1B	Microcephaly	HP:0000252
57492	ARID1B	Ptosis	HP:0000508
57492	ARID1B	Mutism	HP:0002300
186	AGTR2	Intellectual disability	HP:0001249
57592	ZNF687	Left ventricular hypertrophy	HP:0001712
57592	ZNF687	Elevated alkaline phosphatase	HP:0003155
57592	ZNF687	Recurrent fractures	HP:0002757
57592	ZNF687	Autosomal dominant inheritance	HP:0000006
57592	ZNF687	Osteoarthritis	HP:0002758
57592	ZNF687	Nephrocalcinosis	HP:0000121
57592	ZNF687	Bone pain	HP:0002653
57592	ZNF687	Coronary artery atherosclerosis	HP:0001677
57592	ZNF687	Adult onset	HP:0003581
8452	CUL3	Pseudohypoaldosteronism	HP:0008242
8452	CUL3	Hypertension	HP:0000822
8452	CUL3	Autosomal dominant inheritance	HP:0000006
8452	CUL3	Metabolic acidosis	HP:0001942
8452	CUL3	Hyperchloremic metabolic acidosis	HP:0004918
8452	CUL3	Hyperkalemia	HP:0002153
8452	CUL3	Hyperchloremia	HP:0011423
57609	DIP2B	Intellectual disability	HP:0001249
57609	DIP2B	Hyperkeratosis	HP:0000962
57609	DIP2B	Seizures	HP:0001250
57609	DIP2B	Phenotypic variability	HP:0003812
57609	DIP2B	Autosomal dominant inheritance	HP:0000006
288	ANK3	Hyperactivity	HP:0000752
288	ANK3	Intellectual disability	HP:0001249
288	ANK3	Seizures	HP:0001250
288	ANK3	Bruxism	HP:0003763
288	ANK3	Intellectual disability, moderate	HP:0002342
288	ANK3	Autosomal recessive inheritance	HP:0000007
288	ANK3	Spasticity	HP:0001257
288	ANK3	Generalized hypotonia	HP:0001290
288	ANK3	Aggressive behavior	HP:0000718
8516	ITGA8	Sirenomelia	HP:0010497
8516	ITGA8	Abnormality of the intestine	HP:0002242
8516	ITGA8	Autosomal dominant inheritance	HP:0000006
8516	ITGA8	Autosomal recessive inheritance	HP:0000007
8516	ITGA8	Abnormality of female internal genitalia	HP:0000008
8516	ITGA8	Depressed nasal ridge	HP:0000457
8516	ITGA8	Tracheoesophageal fistula	HP:0002575
8516	ITGA8	Primary amenorrhea	HP:0000786
8516	ITGA8	Vaginal atresia	HP:0000148
8516	ITGA8	Retrognathia	HP:0000278
8516	ITGA8	Abnormality of cardiovascular system morphology	HP:0030680
8516	ITGA8	Potter facies	HP:0002009
8516	ITGA8	Oligohydramnios	HP:0001562
8516	ITGA8	Fetal polyuria	HP:0001563
8516	ITGA8	Proteinuria	HP:0000093
8516	ITGA8	Epicanthus	HP:0000286
8516	ITGA8	Abnormality of the foot	HP:0001760
8516	ITGA8	Talipes equinovarus	HP:0001762
8516	ITGA8	Nonketotic hypoglycemia	HP:0001958
8516	ITGA8	Renal agenesis	HP:0000104
8516	ITGA8	Pulmonary hypoplasia	HP:0002089
8516	ITGA8	Urogenital fistula	HP:0100589
8516	ITGA8	Bicornuate uterus	HP:0000813
8516	ITGA8	Renal dysplasia	HP:0000110
8516	ITGA8	Non-midline cleft lip	HP:0100335
8516	ITGA8	Cleft palate	HP:0000175
8516	ITGA8	Low-set ears	HP:0000369
8516	ITGA8	Abnormality of the sacrum	HP:0005107
8516	ITGA8	Hypertension	HP:0000822
8516	ITGA8	Congenital onset	HP:0003577
8516	ITGA8	Hypertelorism	HP:0000316
57697	FANCM	Umbilical hernia	HP:0001537
57697	FANCM	Duodenal stenosis	HP:0100867
57697	FANCM	Cataract	HP:0000518
57697	FANCM	Autosomal recessive inheritance	HP:0000007
57697	FANCM	Abnormality of femur morphology	HP:0002823
57697	FANCM	Hypogonadism	HP:0000135
57697	FANCM	Proptosis	HP:0000520
57697	FANCM	Decreased fertility in males	HP:0012041
57697	FANCM	Recurrent urinary tract infections	HP:0000010
57697	FANCM	Hip dislocation	HP:0002827
57697	FANCM	Dolichocephaly	HP:0000268
57697	FANCM	Multiple cafe-au-lait spots	HP:0007565
57697	FANCM	Tracheoesophageal fistula	HP:0002575
57697	FANCM	Abnormal aortic morphology	HP:0001679
57697	FANCM	Pyridoxine-responsive sideroblastic anemia	HP:0005522
57697	FANCM	Abnormality of chromosome stability	HP:0003220
57697	FANCM	Clubbing of toes	HP:0100760
57697	FANCM	Oligohydramnios	HP:0001562
57697	FANCM	Azoospermia	HP:0000027
57697	FANCM	Cryptorchidism	HP:0000028
57697	FANCM	Hypopigmented skin patches	HP:0001053
57697	FANCM	Epicanthus	HP:0000286
57697	FANCM	Weight loss	HP:0001824
57697	FANCM	Cranial nerve paralysis	HP:0006824
57697	FANCM	Bicornuate uterus	HP:0000813
57697	FANCM	Triphalangeal thumb	HP:0001199
57697	FANCM	Cleft palate	HP:0000175
57697	FANCM	Myelodysplasia	HP:0002863
57697	FANCM	Hypospadias	HP:0000047
57697	FANCM	Aplasia/Hypoplasia of the uvula	HP:0010293
57697	FANCM	Microphthalmia	HP:0000568
57697	FANCM	Arteriovenous malformation	HP:0100026
57697	FANCM	Hypertelorism	HP:0000316
57697	FANCM	Abnormal localization of kidney	HP:0100542
57697	FANCM	Almond-shaped palpebral fissure	HP:0007874
57697	FANCM	Hyperreflexia	HP:0001347
57697	FANCM	Facial asymmetry	HP:0000324
57697	FANCM	Meckel diverticulum	HP:0002245
57697	FANCM	Choanal atresia	HP:0000453
57697	FANCM	Upslanted palpebral fissure	HP:0000582
57697	FANCM	Ventriculomegaly	HP:0002119
57697	FANCM	Hydroureter	HP:0000072
57697	FANCM	Short palpebral fissure	HP:0012745
57697	FANCM	Aganglionic megacolon	HP:0002251
57697	FANCM	Hypoplasia of the ulna	HP:0003022
57697	FANCM	Thrombocytopenia	HP:0001873
57697	FANCM	Renal insufficiency	HP:0000083
57697	FANCM	Sloping forehead	HP:0000340
57697	FANCM	Finger syndactyly	HP:0006101
57697	FANCM	Frontal bossing	HP:0002007
57697	FANCM	Scoliosis	HP:0002650
57697	FANCM	High palate	HP:0000218
57697	FANCM	Leukopenia	HP:0001882
57697	FANCM	Micrognathia	HP:0000347
57697	FANCM	Atrial septal defect	HP:0001631
57697	FANCM	Abnormality of the hypothalamus-pituitary axis	HP:0000864
57697	FANCM	Abnormal carotid artery morphology	HP:0005344
57697	FANCM	Intellectual disability	HP:0001249
57697	FANCM	Short stature	HP:0004322
57697	FANCM	Pes planus	HP:0001763
57697	FANCM	Astigmatism	HP:0000483
57697	FANCM	Tetralogy of Fallot	HP:0001636
57697	FANCM	Aplasia/Hypoplasia of the radius	HP:0006501
57697	FANCM	Absent testis	HP:0010469
57697	FANCM	Growth delay	HP:0001510
57697	FANCM	Renal hypoplasia/aplasia	HP:0008678
57697	FANCM	Strabismus	HP:0000486
57697	FANCM	Intrauterine growth retardation	HP:0001511
57697	FANCM	Anal atresia	HP:0002023
57697	FANCM	Hypertrophic cardiomyopathy	HP:0001639
57697	FANCM	Irregular hyperpigmentation	HP:0007400
57697	FANCM	Toe syndactyly	HP:0001770
57697	FANCM	Abnormality of the preputium	HP:0100587
57697	FANCM	Patent ductus arteriosus	HP:0001643
57697	FANCM	Hearing impairment	HP:0000365
57697	FANCM	Hydrocephalus	HP:0000238
57697	FANCM	Spina bifida	HP:0002414
57697	FANCM	Abnormal aortic valve morphology	HP:0001646
57697	FANCM	Anemia	HP:0001903
57697	FANCM	Global developmental delay	HP:0001263
57697	FANCM	Esophageal atresia	HP:0002032
57697	FANCM	Abnormality of the liver	HP:0001392
57697	FANCM	Clinodactyly of the 5th finger	HP:0004209
57697	FANCM	Aplasia/Hypoplasia of the iris	HP:0008053
57697	FANCM	Aplasia/Hypoplasia of fingers	HP:0006265
57697	FANCM	Visual impairment	HP:0000505
57697	FANCM	Ptosis	HP:0000508
57697	FANCM	External ear malformation	HP:0008572
57697	FANCM	Microcephaly	HP:0000252
57697	FANCM	Reduced bone mineral density	HP:0004349
57697	FANCM	Nystagmus	HP:0000639
410	ARSA	Loss of speech	HP:0002371
410	ARSA	Hyperreflexia	HP:0001347
410	ARSA	Bulbar palsy	HP:0001283
410	ARSA	Abnormality of the cerebral white matter	HP:0002500
410	ARSA	Autosomal recessive inheritance	HP:0000007
410	ARSA	Gait disturbance	HP:0001288
410	ARSA	Optic atrophy	HP:0000648
410	ARSA	Emotional lability	HP:0000712
410	ARSA	Generalized hypotonia	HP:0001290
410	ARSA	Tetraplegia	HP:0002445
410	ARSA	Spastic tetraplegia	HP:0002510
410	ARSA	Urinary incontinence	HP:0000020
410	ARSA	Peripheral demyelination	HP:0011096
410	ARSA	Chorea	HP:0002072
410	ARSA	Progressive peripheral neuropathy	HP:0007133
410	ARSA	Babinski sign	HP:0003487
410	ARSA	Intellectual disability	HP:0001249
410	ARSA	Seizures	HP:0001250
410	ARSA	Hallucinations	HP:0000738
410	ARSA	Ataxia	HP:0001251
410	ARSA	Gallbladder dysfunction	HP:0005609
410	ARSA	Increased CSF protein	HP:0002922
410	ARSA	Delusions	HP:0000746
410	ARSA	Dysarthria	HP:0001260
410	ARSA	Hyporeflexia	HP:0001265
410	ARSA	Mental deterioration	HP:0001268
410	ARSA	Dystonia	HP:0001332
410	ARSA	EMG: neuropathic changes	HP:0003445
410	ARSA	Cholecystitis	HP:0001082
410	ARSA	Decreased nerve conduction velocity	HP:0000762
445	ASS1	Hepatomegaly	HP:0002240
445	ASS1	Intellectual disability	HP:0001249
445	ASS1	Irritability	HP:0000737
445	ASS1	Seizures	HP:0001250
445	ASS1	Hyperammonemia	HP:0001987
445	ASS1	Ataxia	HP:0001251
445	ASS1	Failure to thrive	HP:0001508
445	ASS1	Phenotypic variability	HP:0003812
445	ASS1	Cerebral edema	HP:0002181
445	ASS1	Lethargy	HP:0001254
445	ASS1	Neonatal onset	HP:0003623
445	ASS1	Autosomal recessive inheritance	HP:0000007
445	ASS1	Hypoargininemia	HP:0005961
445	ASS1	Coma	HP:0001259
445	ASS1	Global developmental delay	HP:0001263
445	ASS1	Hyperglutaminemia	HP:0003217
445	ASS1	Stroke	HP:0001297
445	ASS1	Oroticaciduria	HP:0003218
445	ASS1	Cirrhosis	HP:0001394
445	ASS1	Protein avoidance	HP:0002038
445	ASS1	Vomiting	HP:0002013
445	ASS1	Respiratory alkalosis	HP:0001950
445	ASS1	Episodic ammonia intoxication	HP:0001951
613	BCR	Chronic myelogenous leukemia	HP:0005506
613	BCR	Recurrent urinary tract infections	HP:0000010
613	BCR	Absent toenail	HP:0001802
613	BCR	Camptodactyly of finger	HP:0100490
613	BCR	Arachnodactyly	HP:0001166
613	BCR	Malar flattening	HP:0000272
613	BCR	High, narrow palate	HP:0002705
613	BCR	Oculomotor apraxia	HP:0000657
613	BCR	Somatic mutation	HP:0001428
613	BCR	Long face	HP:0000276
613	BCR	Sensorineural hearing impairment	HP:0000407
613	BCR	Inguinal hernia	HP:0000023
613	BCR	Absent fingernail	HP:0001817
613	BCR	Fever	HP:0001945
613	BCR	Short distal phalanx of finger	HP:0009882
613	BCR	Recurrent respiratory infections	HP:0002205
613	BCR	Language impairment	HP:0002463
613	BCR	Narrow mouth	HP:0000160
613	BCR	Immunodeficiency	HP:0002721
613	BCR	Prominent nasal bridge	HP:0000426
613	BCR	Myeloproliferative disorder	HP:0005547
613	BCR	Poor appetite	HP:0004396
613	BCR	Underdeveloped nasal alae	HP:0000430
613	BCR	Cleft palate	HP:0000175
613	BCR	Bowel incontinence	HP:0002607
613	BCR	Pointed chin	HP:0000307
613	BCR	Leukocytosis	HP:0001974
613	BCR	Short palm	HP:0004279
613	BCR	Ankyloglossia	HP:0010296
613	BCR	Sandal gap	HP:0001852
613	BCR	Joint hyperflexibility	HP:0005692
613	BCR	Smooth philtrum	HP:0000319
613	BCR	Tics	HP:0100033
613	BCR	Acute lymphoblastic leukemia	HP:0006721
613	BCR	Branchial fistula	HP:0009795
613	BCR	Facial asymmetry	HP:0000324
613	BCR	Blepharophimosis	HP:0000581
613	BCR	Choanal atresia	HP:0000453
613	BCR	Depressivity	HP:0000716
613	BCR	Aortic aneurysm	HP:0004942
613	BCR	Splenomegaly	HP:0001744
613	BCR	Thrombocytopenia	HP:0001873
613	BCR	Obsessive-compulsive behavior	HP:0000722
613	BCR	Premature birth	HP:0001622
613	BCR	Bowing of the long bones	HP:0006487
613	BCR	Fatigue	HP:0012378
613	BCR	Thin upper lip vermilion	HP:0000219
613	BCR	Ventricular septal defect	HP:0001629
613	BCR	Atrial septal defect	HP:0001631
613	BCR	Intellectual disability	HP:0001249
613	BCR	Seizures	HP:0001250
613	BCR	Short stature	HP:0004322
613	BCR	Pes planus	HP:0001763
613	BCR	Pyloric stenosis	HP:0002021
613	BCR	Thrombocytosis	HP:0001894
613	BCR	Polygenic inheritance	HP:0010982
613	BCR	Intrauterine growth retardation	HP:0001511
613	BCR	Neoplasm	HP:0002664
613	BCR	Deeply set eye	HP:0000490
613	BCR	Attention deficit hyperactivity disorder	HP:0007018
613	BCR	Toe syndactyly	HP:0001770
613	BCR	Hyperlordosis	HP:0003307
613	BCR	Abnormality of earlobe	HP:0000363
613	BCR	Global developmental delay	HP:0001263
613	BCR	Ph-positive acute lymphoblastic leukemia	HP:0004848
613	BCR	Coxa valga	HP:0002673
613	BCR	Clinodactyly of the 5th finger	HP:0004209
613	BCR	Abnormality of basophils	HP:0001912
613	BCR	Highly arched eyebrow	HP:0002553
613	BCR	Ulnar deviation of finger	HP:0009465
613	BCR	Aortic regurgitation	HP:0001659
613	BCR	Truncus arteriosus	HP:0001660
613	BCR	Microcephaly	HP:0000252
8913	CACNA1G	Saccadic smooth pursuit	HP:0001152
8913	CACNA1G	Spastic ataxia	HP:0002497
8913	CACNA1G	Hyperreflexia	HP:0001347
8913	CACNA1G	Autosomal dominant inheritance	HP:0000006
8913	CACNA1G	Diplopia	HP:0000651
8913	CACNA1G	Dysarthria	HP:0001260
8913	CACNA1G	Depressivity	HP:0000716
8913	CACNA1G	Urinary urgency	HP:0000012
8913	CACNA1G	Unsteady gait	HP:0002317
8913	CACNA1G	Spastic gait	HP:0002064
8913	CACNA1G	Urinary incontinence	HP:0000020
8913	CACNA1G	Cerebellar atrophy	HP:0001272
8913	CACNA1G	Tremor	HP:0001337
8913	CACNA1G	Loss of Purkinje cells in the cerebellar vermis	HP:0007001
8913	CACNA1G	Horizontal nystagmus	HP:0000666
8913	CACNA1G	Impaired vibration sensation at ankles	HP:0006938
8913	CACNA1G	Slow progression	HP:0003677
8913	CACNA1G	Cognitive impairment	HP:0100543
8913	CACNA1G	Eyelid myokymia	HP:0031166
8913	CACNA1G	Dysphagia	HP:0002015
8913	CACNA1G	Babinski sign	HP:0003487
730	C7	Recurrent meningococcal disease	HP:0005381
730	C7	Autosomal recessive inheritance	HP:0000007
730	C7	Complement deficiency	HP:0004431
781	CACNA2D1	Atrial fibrillation	HP:0005110
781	CACNA2D1	Shortened QT interval	HP:0012232
781	CACNA2D1	Palpitations	HP:0001962
781	CACNA2D1	Sudden cardiac death	HP:0001645
781	CACNA2D1	Atrioventricular block	HP:0001678
781	CACNA2D1	Bradycardia	HP:0001662
781	CACNA2D1	Ventricular fibrillation	HP:0001663
781	CACNA2D1	Syncope	HP:0001279
811	CALR	Amaurosis fugax	HP:0100576
811	CALR	Prolonged bleeding time	HP:0003010
811	CALR	Abnormal platelet morphology	HP:0011875
811	CALR	Arterial thrombosis	HP:0004420
811	CALR	Myelofibrosis	HP:0011974
811	CALR	Autosomal dominant inheritance	HP:0000006
811	CALR	Thrombocytosis	HP:0001894
811	CALR	Acrocyanosis	HP:0001063
811	CALR	Venous thrombosis	HP:0004936
811	CALR	Increased megakaryocyte count	HP:0005513
811	CALR	Paresthesia	HP:0003401
811	CALR	Myeloproliferative disorder	HP:0005547
811	CALR	Chest pain	HP:0100749
811	CALR	Myelodysplasia	HP:0002863
811	CALR	Splenomegaly	HP:0001744
811	CALR	Somatic mutation	HP:0001428
811	CALR	Impaired platelet aggregation	HP:0003540
811	CALR	Hypertension	HP:0000822
811	CALR	Transient ischemic attack	HP:0002326
811	CALR	Acute leukemia	HP:0002488
811	CALR	Myocardial infarction	HP:0001658
811	CALR	Abnormality of the skeletal system	HP:0000924
9150	CTDP1	Genu recurvatum	HP:0002816
9150	CTDP1	Cataract	HP:0000518
9150	CTDP1	Autosomal recessive inheritance	HP:0000007
9150	CTDP1	Congenital cataract	HP:0000519
9150	CTDP1	Infantile onset	HP:0003593
9150	CTDP1	Motor polyneuropathy	HP:0007178
9150	CTDP1	Camptodactyly of finger	HP:0100490
9150	CTDP1	Cerebral atrophy	HP:0002059
9150	CTDP1	Peripheral hypomyelination	HP:0007182
9150	CTDP1	Long eyelashes	HP:0000527
9150	CTDP1	Primary amenorrhea	HP:0000786
9150	CTDP1	Split hand	HP:0001171
9150	CTDP1	Decreased serum estradiol	HP:0008214
9150	CTDP1	Hypoglycemia	HP:0001943
9150	CTDP1	Chorea	HP:0002072
9150	CTDP1	Dysmetria	HP:0001310
9150	CTDP1	Decreased testicular size	HP:0008734
9150	CTDP1	Babinski sign	HP:0003487
9150	CTDP1	Intention tremor	HP:0002080
9150	CTDP1	Abnormality of the dentition	HP:0000164
9150	CTDP1	Osteoporosis	HP:0000939
9150	CTDP1	Hypogonadotrophic hypogonadism	HP:0000044
9150	CTDP1	Hypergonadotropic hypogonadism	HP:0000815
9150	CTDP1	Microphthalmia	HP:0000568
9150	CTDP1	Abnormality of peripheral nerve conduction	HP:0003134
9150	CTDP1	Cognitive impairment	HP:0100543
9150	CTDP1	Kyphoscoliosis	HP:0002751
9150	CTDP1	Ventriculomegaly	HP:0002119
9150	CTDP1	Cerebral cortical atrophy	HP:0002120
9150	CTDP1	Paresthesia	HP:0003401
9150	CTDP1	Abnormal facial shape	HP:0001999
9150	CTDP1	Abnormal pyramidal signs	HP:0007256
9150	CTDP1	Peripheral demyelination	HP:0011096
9150	CTDP1	Scoliosis	HP:0002650
9150	CTDP1	Motor axonal neuropathy	HP:0007002
9150	CTDP1	Micrognathia	HP:0000347
9150	CTDP1	Pes cavus	HP:0001761
9150	CTDP1	Intellectual disability	HP:0001249
9150	CTDP1	Short stature	HP:0004322
9150	CTDP1	Microcornea	HP:0000482
9150	CTDP1	Talipes equinovarus	HP:0001762
9150	CTDP1	Ataxia	HP:0001251
9150	CTDP1	Strabismus	HP:0000486
9150	CTDP1	Intrauterine growth retardation	HP:0001511
9150	CTDP1	Decreased motor nerve conduction velocity	HP:0003431
9150	CTDP1	Intellectual disability, mild	HP:0001256
9150	CTDP1	Acute rhabdomyolysis	HP:0008942
9150	CTDP1	Global developmental delay	HP:0001263
9150	CTDP1	Motor delay	HP:0001270
9150	CTDP1	Abnormality of the cervical spine	HP:0003319
9150	CTDP1	Kyphosis	HP:0002808
9150	CTDP1	Malar prominence	HP:0010620
9150	CTDP1	Peripheral axonal degeneration	HP:0000764
9150	CTDP1	Nystagmus	HP:0000639
9184	BUB3	Increased nuchal translucency	HP:0010880
9184	BUB3	Multicystic kidney dysplasia	HP:0000003
9184	BUB3	Ascites	HP:0001541
9184	BUB3	Cataract	HP:0000518
9184	BUB3	Multiple cafe-au-lait spots	HP:0007565
9184	BUB3	Coarctation of aorta	HP:0001680
9184	BUB3	Subvalvular aortic stenosis	HP:0001682
9184	BUB3	Corneal opacity	HP:0007957
9184	BUB3	Polyhydramnios	HP:0001561
9184	BUB3	Dandy-Walker malformation	HP:0001305
9184	BUB3	Epicanthus	HP:0000286
9184	BUB3	Rhabdomyosarcoma	HP:0002859
9184	BUB3	Vaginal neoplasm	HP:0100650
9184	BUB3	Cleft palate	HP:0000175
9184	BUB3	Myelodysplasia	HP:0002863
9184	BUB3	Hypothyroidism	HP:0000821
9184	BUB3	Abnormal lung lobation	HP:0002101
9184	BUB3	Apnea	HP:0002104
9184	BUB3	Microphthalmia	HP:0000568
9184	BUB3	Colon cancer	HP:0003003
9184	BUB3	Wide nose	HP:0000445
9184	BUB3	Ambiguous genitalia	HP:0000062
9184	BUB3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9184	BUB3	Acute lymphoblastic leukemia	HP:0006721
9184	BUB3	Triangular face	HP:0000325
9184	BUB3	Duodenal atresia	HP:0002247
9184	BUB3	Depressed nasal ridge	HP:0000457
9184	BUB3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
9184	BUB3	Intestinal polyposis	HP:0200008
9184	BUB3	Holoprosencephaly	HP:0001360
9184	BUB3	Sloping forehead	HP:0000340
9184	BUB3	Frontal bossing	HP:0002007
9184	BUB3	Micrognathia	HP:0000347
9184	BUB3	High forehead	HP:0000348
9184	BUB3	Stomach cancer	HP:0012126
9184	BUB3	Atrial septal defect	HP:0001631
9184	BUB3	Intellectual disability	HP:0001249
9184	BUB3	Abnormality of immune system physiology	HP:0010978
9184	BUB3	Seizures	HP:0001250
9184	BUB3	Short stature	HP:0004322
9184	BUB3	Muscular hypotonia	HP:0001252
9184	BUB3	Intrauterine growth retardation	HP:0001511
9184	BUB3	Abnormality of skin pigmentation	HP:0001000
9184	BUB3	Muscular dystrophy	HP:0003560
9184	BUB3	Nephroblastoma	HP:0002667
9184	BUB3	Hearing impairment	HP:0000365
9184	BUB3	Osteolysis	HP:0002797
9184	BUB3	Downslanted palpebral fissures	HP:0000494
9184	BUB3	Global developmental delay	HP:0001263
9184	BUB3	Low-set, posteriorly rotated ears	HP:0000368
9184	BUB3	Clinodactyly of the 5th finger	HP:0004209
9184	BUB3	Glaucoma	HP:0000501
9184	BUB3	Abnormality of vision	HP:0000504
9184	BUB3	Aortic regurgitation	HP:0001659
9184	BUB3	Microcephaly	HP:0000252
1123	CHN1	Preauricular skin tag	HP:0000384
1123	CHN1	Aplasia/Hypoplasia of the thumb	HP:0009601
1123	CHN1	Skeletal muscle atrophy	HP:0003202
1123	CHN1	Blepharospasm	HP:0000643
1123	CHN1	Brachydactyly	HP:0001156
1123	CHN1	Amblyopia	HP:0000646
1123	CHN1	Absent radius	HP:0003974
1123	CHN1	Autosomal dominant inheritance	HP:0000006
1123	CHN1	Abnormal vertebral segmentation and fusion	HP:0005640
1123	CHN1	Central heterochromia	HP:0007818
1123	CHN1	Aniridia	HP:0000526
1123	CHN1	Stenosis of the external auditory canal	HP:0000402
1123	CHN1	Sensorineural hearing impairment	HP:0000407
1123	CHN1	Preaxial hand polydactyly	HP:0001177
1123	CHN1	Hypopigmented skin patches	HP:0001053
1123	CHN1	Hypoplasia of the radius	HP:0002984
1123	CHN1	Wide nasal bridge	HP:0000431
1123	CHN1	Cleft palate	HP:0000175
1123	CHN1	Triphalangeal thumb	HP:0001199
1123	CHN1	Hypoplastic iris stroma	HP:0007990
1123	CHN1	Chorioretinal coloboma	HP:0000567
1123	CHN1	Anorectal anomaly	HP:0012732
1123	CHN1	Duane anomaly	HP:0009921
1123	CHN1	Facial asymmetry	HP:0000324
1123	CHN1	Blepharophimosis	HP:0000581
1123	CHN1	Short palpebral fissure	HP:0012745
1123	CHN1	Plagiocephaly	HP:0001357
1123	CHN1	Anteverted nares	HP:0000463
1123	CHN1	Webbed neck	HP:0000465
1123	CHN1	Oculomotor nerve palsy	HP:0012246
1123	CHN1	Optic disc hypoplasia	HP:0007766
1123	CHN1	Ectopic kidney	HP:0000086
1123	CHN1	Short neck	HP:0000470
1123	CHN1	Abnormality of cardiovascular system morphology	HP:0030680
1123	CHN1	Micrognathia	HP:0000347
1123	CHN1	Camptodactyly	HP:0012385
1123	CHN1	Talipes equinovarus	HP:0001762
1123	CHN1	Microcornea	HP:0000482
1123	CHN1	Spina bifida occulta	HP:0003298
1123	CHN1	Seizures	HP:0001250
1123	CHN1	Iris coloboma	HP:0000612
1123	CHN1	Patchy hypopigmentation of hair	HP:0011365
1123	CHN1	Strabismus	HP:0000486
1123	CHN1	Abnormal pupil morphology	HP:0000615
1123	CHN1	Everted lower lip vermilion	HP:0000232
1123	CHN1	Irregular hyperpigmentation	HP:0007400
1123	CHN1	Deeply set eye	HP:0000490
1123	CHN1	Global developmental delay	HP:0001263
1123	CHN1	Abnormal form of the vertebral bodies	HP:0003312
1123	CHN1	Low posterior hairline	HP:0002162
1123	CHN1	Narrow internal auditory canal	HP:0011386
1123	CHN1	Microcephaly	HP:0000252
1123	CHN1	Ptosis	HP:0000508
1123	CHN1	External ear malformation	HP:0008572
1123	CHN1	Nystagmus	HP:0000639
9321	TRIP11	Macrocephaly	HP:0000256
9321	TRIP11	Umbilical hernia	HP:0001537
9321	TRIP11	Disproportionate short-trunk short stature	HP:0003521
9321	TRIP11	Short thorax	HP:0010306
9321	TRIP11	Protuberant abdomen	HP:0001538
9321	TRIP11	Recurrent fractures	HP:0002757
9321	TRIP11	Short ribs	HP:0000773
9321	TRIP11	Narrow chest	HP:0000774
9321	TRIP11	Abdominal distention	HP:0003270
9321	TRIP11	Autosomal recessive inheritance	HP:0000007
9321	TRIP11	Abnormal enchondral ossification	HP:0003336
9321	TRIP11	Anteverted nares	HP:0000463
9321	TRIP11	Flat face	HP:0012368
9321	TRIP11	Barrel-shaped chest	HP:0001552
9321	TRIP11	Lethal skeletal dysplasia	HP:0005716
9321	TRIP11	Broad clavicles	HP:0000916
9321	TRIP11	Short neck	HP:0000470
9321	TRIP11	Frontal bossing	HP:0002007
9321	TRIP11	Long philtrum	HP:0000343
9321	TRIP11	Abnormality of cardiovascular system morphology	HP:0030680
9321	TRIP11	Polyhydramnios	HP:0001561
9321	TRIP11	Abnormality of the femoral metaphysis	HP:0006489
9321	TRIP11	Thickened nuchal skin fold	HP:0000474
9321	TRIP11	Micrognathia	HP:0000347
9321	TRIP11	Beaded ribs	HP:0000923
9321	TRIP11	Cystic hygroma	HP:0000476
9321	TRIP11	Depressed nasal bridge	HP:0005280
9321	TRIP11	Abnormal hand bone ossification	HP:0010660
9321	TRIP11	Micromelia	HP:0002983
9321	TRIP11	Hypoplastic ischia	HP:0003175
9321	TRIP11	Hypoplasia of the radius	HP:0002984
9321	TRIP11	Decreased skull ossification	HP:0004331
9321	TRIP11	Short foot	HP:0001773
9321	TRIP11	Aplasia/Hypoplasia of the lungs	HP:0006703
9321	TRIP11	Multiple rib fractures	HP:0006640
9321	TRIP11	Hypoplastic scapulae	HP:0000882
9321	TRIP11	Stillbirth	HP:0003826
9321	TRIP11	Abnormal foot bone ossification	HP:0010675
9321	TRIP11	Severe short stature	HP:0003510
9321	TRIP11	Short palm	HP:0004279
9321	TRIP11	Short nose	HP:0003196
9321	TRIP11	Femoral hernia	HP:0100541
9321	TRIP11	Hydrops fetalis	HP:0001789
9321	TRIP11	Short clavicles	HP:0000894
9321	TRIP11	Unossified vertebral bodies	HP:0004606
1130	LYST	Areflexia	HP:0001284
1130	LYST	Neurodegeneration	HP:0002180
1130	LYST	Amblyopia	HP:0000646
1130	LYST	Autosomal recessive inheritance	HP:0000007
1130	LYST	Incoordination	HP:0002311
1130	LYST	Gait disturbance	HP:0001288
1130	LYST	Abnormality of coagulation	HP:0001928
1130	LYST	Rigidity	HP:0002063
1130	LYST	Generalized hyperpigmentation	HP:0007440
1130	LYST	Bradykinesia	HP:0002067
1130	LYST	Abnormality of extrapyramidal motor function	HP:0002071
1130	LYST	Fever	HP:0001945
1130	LYST	Lymphadenopathy	HP:0002716
1130	LYST	Recurrent respiratory infections	HP:0002205
1130	LYST	Recurrent bacterial skin infections	HP:0005406
1130	LYST	Immunodeficiency	HP:0002721
1130	LYST	Epistaxis	HP:0000421
1130	LYST	Cranial nerve paralysis	HP:0006824
1130	LYST	Iris hypopigmentation	HP:0007730
1130	LYST	Recurrent systemic pyogenic infections	HP:0005429
1130	LYST	Abnormality of movement	HP:0100022
1130	LYST	Jaundice	HP:0000952
1130	LYST	Tremor	HP:0001337
1130	LYST	Gastrointestinal hemorrhage	HP:0002239
1130	LYST	Hepatomegaly	HP:0002240
1130	LYST	Periodontitis	HP:0000704
1130	LYST	Foot dorsiflexor weakness	HP:0009027
1130	LYST	Developmental regression	HP:0002376
1130	LYST	Edema	HP:0000969
1130	LYST	Paresthesia	HP:0003401
1130	LYST	Splenomegaly	HP:0001744
1130	LYST	Macular hypoplasia	HP:0001104
1130	LYST	Thrombocytopenia	HP:0001873
1130	LYST	Bruising susceptibility	HP:0000978
1130	LYST	Neutropenia	HP:0001875
1130	LYST	Ocular albinism	HP:0001107
1130	LYST	Giant melanosomes in melanocytes	HP:0005592
1130	LYST	Generalized hypopigmentation	HP:0007513
1130	LYST	Leukopenia	HP:0001882
1130	LYST	Progressive peripheral neuropathy	HP:0007133
1130	LYST	Atrial septal defect	HP:0001631
1130	LYST	Hypopigmentation of hair	HP:0005599
1130	LYST	Gingival bleeding	HP:0000225
1130	LYST	Intellectual disability	HP:0001249
1130	LYST	Seizures	HP:0001250
1130	LYST	Melanocytic nevus	HP:0000995
1130	LYST	Ataxia	HP:0001251
1130	LYST	White hair	HP:0011364
1130	LYST	Photophobia	HP:0000613
1130	LYST	Strabismus	HP:0000486
1130	LYST	Gingivitis	HP:0000230
1130	LYST	Peripheral neuropathy	HP:0009830
1130	LYST	Recurrent cutaneous abscess formation	HP:0100838
1130	LYST	Lymphoma	HP:0002665
1130	LYST	Skin ulcer	HP:0200042
1130	LYST	Anemia	HP:0001903
1130	LYST	Global developmental delay	HP:0001263
1130	LYST	Reduced visual acuity	HP:0007663
1130	LYST	Abnormality of multiple cell lineages in the bone marrow	HP:0012145
1130	LYST	Hyporeflexia	HP:0001265
1130	LYST	Hypopigmentation of the skin	HP:0001010
1130	LYST	Cerebellar atrophy	HP:0001272
1130	LYST	Visual impairment	HP:0000505
1130	LYST	Decreased nerve conduction velocity	HP:0000762
1130	LYST	Hypertonia	HP:0001276
1130	LYST	Nystagmus	HP:0000639
9361	LONP1	Omphalocele	HP:0001539
9361	LONP1	Brachydactyly	HP:0001156
9361	LONP1	Cataract	HP:0000518
9361	LONP1	Congenital cataract	HP:0000519
9361	LONP1	Autosomal recessive inheritance	HP:0000007
9361	LONP1	Generalized hypotonia	HP:0001290
9361	LONP1	Overfolded helix	HP:0000396
9361	LONP1	Rectovaginal fistula	HP:0000143
9361	LONP1	Pes valgus	HP:0008081
9361	LONP1	Sensorineural hearing impairment	HP:0000407
9361	LONP1	Proximal placement of thumb	HP:0009623
9361	LONP1	Polyhydramnios	HP:0001561
9361	LONP1	Hypoplasia of dental enamel	HP:0006297
9361	LONP1	Midline defect of the nose	HP:0004122
9361	LONP1	Cryptorchidism	HP:0000028
9361	LONP1	Epicanthus	HP:0000286
9361	LONP1	Metaphyseal dysplasia	HP:0100255
9361	LONP1	Hypoplasia of the corpus callosum	HP:0002079
9361	LONP1	Depressed nasal bridge	HP:0005280
9361	LONP1	Short humerus	HP:0005792
9361	LONP1	Atrioventricular canal defect	HP:0006695
9361	LONP1	Genu valgum	HP:0002857
9361	LONP1	Abnormality of epiphysis morphology	HP:0005930
9361	LONP1	Abnormality of dental enamel	HP:0000682
9361	LONP1	Delayed eruption of teeth	HP:0000684
9361	LONP1	Crumpled ear	HP:0009901
9361	LONP1	Joint hyperflexibility	HP:0005692
9361	LONP1	Delayed skeletal maturation	HP:0002750
9361	LONP1	Abnormality of the larynx	HP:0001600
9361	LONP1	Delayed ossification of carpal bones	HP:0001216
9361	LONP1	Short metacarpal	HP:0010049
9361	LONP1	Vocal cord paresis	HP:0001604
9361	LONP1	Hydroureter	HP:0000072
9361	LONP1	Short phalanx of finger	HP:0009803
9361	LONP1	Anteverted nares	HP:0000463
9361	LONP1	Flat face	HP:0012368
9361	LONP1	Abnormality of dental morphology	HP:0006482
9361	LONP1	Coronal cleft vertebrae	HP:0003417
9361	LONP1	Scoliosis	HP:0002650
9361	LONP1	Ventricular septal defect	HP:0001629
9361	LONP1	Congenital hip dislocation	HP:0001374
9361	LONP1	Atrial septal defect	HP:0001631
9361	LONP1	Short stature	HP:0004322
9361	LONP1	Seizures	HP:0001250
9361	LONP1	Muscular hypotonia	HP:0001252
9361	LONP1	Strabismus	HP:0000486
9361	LONP1	Anal atresia	HP:0002023
9361	LONP1	Squared iliac bones	HP:0003177
9361	LONP1	Global developmental delay	HP:0001263
9361	LONP1	Hypoplasia of the odontoid process	HP:0003311
9361	LONP1	Extrahepatic biliary duct atresia	HP:0005242
9361	LONP1	Broad skull	HP:0002682
9361	LONP1	Short nose	HP:0003196
9361	LONP1	Ptosis	HP:0000508
9361	LONP1	Nystagmus	HP:0000639
1181	CLCN2	Leukoencephalopathy	HP:0002352
1181	CLCN2	Gait ataxia	HP:0002066
1181	CLCN2	Optic neuropathy	HP:0001138
1181	CLCN2	Visual field defect	HP:0001123
1181	CLCN2	Abnormal chorioretinal morphology	HP:0000532
1181	CLCN2	Limb ataxia	HP:0002070
1181	CLCN2	Autosomal recessive inheritance	HP:0000007
1181	CLCN2	Headache	HP:0002315
9526	MPDU1	Feeding difficulties	HP:0011968
9526	MPDU1	Absent speech	HP:0001344
9526	MPDU1	Hyperkeratosis	HP:0000962
9526	MPDU1	Seizures	HP:0001250
9526	MPDU1	Ataxia	HP:0001251
9526	MPDU1	Failure to thrive	HP:0001508
9526	MPDU1	Muscular hypotonia	HP:0001252
9526	MPDU1	Strabismus	HP:0000486
9526	MPDU1	Autosomal recessive inheritance	HP:0000007
9526	MPDU1	Optic atrophy	HP:0000648
9526	MPDU1	Generalized hypotonia	HP:0001290
9526	MPDU1	Cerebral atrophy	HP:0002059
9526	MPDU1	Global developmental delay	HP:0001263
9526	MPDU1	Abnormality of the coagulation cascade	HP:0003256
9526	MPDU1	Abnormality of vision	HP:0000504
9526	MPDU1	Congenital onset	HP:0003577
9526	MPDU1	Erythroderma	HP:0001019
9526	MPDU1	Flexion contracture	HP:0001371
9526	MPDU1	Hypertonia	HP:0001276
9526	MPDU1	Microcephaly	HP:0000252
9526	MPDU1	Scaling skin	HP:0040189
9526	MPDU1	Dry skin	HP:0000958
9526	MPDU1	Cognitive impairment	HP:0100543
9526	MPDU1	Nystagmus	HP:0000639
25913	POT1	Neoplasm of the stomach	HP:0006753
25913	POT1	Nevus	HP:0003764
25913	POT1	Abnormality of extrapyramidal motor function	HP:0002071
25913	POT1	Freckling	HP:0001480
25913	POT1	Retinopathy	HP:0000488
25913	POT1	Abnormality of the lymphatic system	HP:0100763
25913	POT1	Abnormality of the hair	HP:0001595
25913	POT1	Neoplasm of the breast	HP:0100013
25913	POT1	Melanoma	HP:0002861
25913	POT1	Neoplasm of the pancreas	HP:0002894
25913	POT1	Dry skin	HP:0000958
25939	SAMHD1	Autosomal dominant inheritance	HP:0000006
25939	SAMHD1	Autosomal recessive inheritance	HP:0000007
25939	SAMHD1	Intellectual disability, profound	HP:0002187
25939	SAMHD1	Plagiocephaly	HP:0001357
25939	SAMHD1	Thrombocytopenia	HP:0001873
25939	SAMHD1	Porencephalic cyst	HP:0002132
25939	SAMHD1	CSF lymphocytic pleiocytosis	HP:0200149
25939	SAMHD1	Hemiplegia/hemiparesis	HP:0004374
25939	SAMHD1	Basal ganglia calcification	HP:0002135
25939	SAMHD1	Deep white matter hypodensities	HP:0007321
25939	SAMHD1	Flexion contracture	HP:0001371
25939	SAMHD1	Arrhinencephaly	HP:0002139
25939	SAMHD1	Arthropathy	HP:0003040
25939	SAMHD1	Cutaneous photosensitivity	HP:0000992
25939	SAMHD1	Irritability	HP:0000737
25939	SAMHD1	Seizures	HP:0001250
25939	SAMHD1	Feeding difficulties in infancy	HP:0008872
25939	SAMHD1	Muscular hypotonia of the trunk	HP:0008936
25939	SAMHD1	Spasticity	HP:0001257
25939	SAMHD1	Chilblain lesions	HP:0009710
25939	SAMHD1	Global developmental delay	HP:0001263
25939	SAMHD1	Leukodystrophy	HP:0002415
25939	SAMHD1	Leukoencephalopathy	HP:0002352
25939	SAMHD1	Eyelid coloboma	HP:0000625
25939	SAMHD1	Variable expressivity	HP:0003828
25939	SAMHD1	Microcephaly	HP:0000252
25939	SAMHD1	Ptosis	HP:0000508
25939	SAMHD1	Scaling skin	HP:0040189
25939	SAMHD1	Dry skin	HP:0000958
1414	CRYBB1	Myopia	HP:0000545
1414	CRYBB1	Microcornea	HP:0000482
1414	CRYBB1	Iris coloboma	HP:0000612
1414	CRYBB1	Pulverulent cataract	HP:0010693
1414	CRYBB1	Cataract	HP:0000518
1414	CRYBB1	Autosomal dominant inheritance	HP:0000006
1414	CRYBB1	Amblyopia	HP:0000646
1414	CRYBB1	Congenital cataract	HP:0000519
1414	CRYBB1	Autosomal recessive inheritance	HP:0000007
1414	CRYBB1	Corneal dystrophy	HP:0001131
1414	CRYBB1	Nuclear cataract	HP:0100018
1414	CRYBB1	Corneal opacity	HP:0007957
1414	CRYBB1	Nystagmus	HP:0000639
1421	CRYGD	Myopia	HP:0000545
1421	CRYGD	Microcornea	HP:0000482
1421	CRYGD	Iris coloboma	HP:0000612
1421	CRYGD	Corneal opacity	HP:0007957
1421	CRYGD	Autosomal dominant inheritance	HP:0000006
1421	CRYGD	Cataract	HP:0000518
1421	CRYGD	Congenital cataract	HP:0000519
1421	CRYGD	Corneal dystrophy	HP:0001131
1421	CRYGD	Nystagmus	HP:0000639
9652	TTC37	Hypoalbuminemia	HP:0003073
9652	TTC37	Sparse hair	HP:0008070
9652	TTC37	Autosomal recessive inheritance	HP:0000007
9652	TTC37	Proptosis	HP:0000520
9652	TTC37	Abnormality of iron homeostasis	HP:0011031
9652	TTC37	Polyhydramnios	HP:0001561
9652	TTC37	Wide mouth	HP:0000154
9652	TTC37	Abnormality of the immune system	HP:0002715
9652	TTC37	Trichorrhexis nodosa	HP:0009886
9652	TTC37	Narrow mouth	HP:0000160
9652	TTC37	Underdeveloped supraorbital ridges	HP:0009891
9652	TTC37	Hypermethioninemia	HP:0003235
9652	TTC37	Curly hair	HP:0002212
9652	TTC37	Fine hair	HP:0002213
9652	TTC37	Woolly hair	HP:0002224
9652	TTC37	Jaundice	HP:0000952
9652	TTC37	Hypertelorism	HP:0000316
9652	TTC37	Wide nose	HP:0000445
9652	TTC37	Cognitive impairment	HP:0100543
9652	TTC37	Hepatomegaly	HP:0002240
9652	TTC37	Bifid uvula	HP:0000193
9652	TTC37	Abnormality of the pancreas	HP:0001732
9652	TTC37	Depressed nasal ridge	HP:0000457
9652	TTC37	Anteverted nares	HP:0000463
9652	TTC37	Villous atrophy	HP:0011473
9652	TTC37	Prominent forehead	HP:0011220
9652	TTC37	Long philtrum	HP:0000343
9652	TTC37	Frontal bossing	HP:0002007
9652	TTC37	Ventricular septal defect	HP:0001629
9652	TTC37	Diarrhea	HP:0002014
9652	TTC37	Short stature	HP:0004322
9652	TTC37	Failure to thrive	HP:0001508
9652	TTC37	Tetralogy of Fallot	HP:0001636
9652	TTC37	Increased mean platelet volume	HP:0011877
9652	TTC37	Thrombocytosis	HP:0001894
9652	TTC37	Microtia	HP:0008551
9652	TTC37	Intrauterine growth retardation	HP:0001511
9652	TTC37	Pulmonic stenosis	HP:0001642
9652	TTC37	Small for gestational age	HP:0001518
9652	TTC37	Downslanted palpebral fissures	HP:0000494
9652	TTC37	Low-set ears	HP:0000369
9652	TTC37	Cirrhosis	HP:0001394
9652	TTC37	Hepatic fibrosis	HP:0001395
9652	TTC37	Cholestasis	HP:0001396
9652	TTC37	Galactosuria	HP:0012023
9652	TTC37	Hepatic failure	HP:0001399
9652	TTC37	Intractable diarrhea	HP:0002041
9652	TTC37	Large placenta	HP:0006267
9652	TTC37	Brittle hair	HP:0002299
9652	TTC37	Aortic regurgitation	HP:0001659
9652	TTC37	Renal cortical microcysts	HP:0004734
1536	CYBB	Hepatomegaly	HP:0002240
1536	CYBB	Osteomyelitis	HP:0002754
1536	CYBB	Negative nitroblue tetrazolium reduction test	HP:0003203
1536	CYBB	Recurrent pneumonia	HP:0006532
1536	CYBB	Eczema	HP:0000964
1536	CYBB	Otitis media	HP:0000388
1536	CYBB	Decreased activity of NADPH oxidase	HP:0003206
1536	CYBB	Sepsis	HP:0100806
1536	CYBB	Meningitis	HP:0001287
1536	CYBB	Hypermelanotic macule	HP:0001034
1536	CYBB	Recurrent mycobacterial infections	HP:0011274
1536	CYBB	Granulomatosis	HP:0002955
1536	CYBB	X-linked recessive inheritance	HP:0001419
1536	CYBB	Tracheoesophageal fistula	HP:0002575
1536	CYBB	Eczematoid dermatitis	HP:0000976
1536	CYBB	Splenomegaly	HP:0001744
1536	CYBB	Abnormality of neutrophils	HP:0001874
1536	CYBB	Lymphadenitis	HP:0002840
1536	CYBB	Fever	HP:0001945
1536	CYBB	Recurrent Burkholderia cepacia infections	HP:0002842
1536	CYBB	Lymphadenopathy	HP:0002716
1536	CYBB	Recurrent respiratory infections	HP:0002205
1536	CYBB	Recurrent bacterial skin infections	HP:0005406
1536	CYBB	Cutaneous photosensitivity	HP:0000992
1536	CYBB	Absence of bactericidal oxidative respiratory burst in phagocytes	HP:0002723
1536	CYBB	Recurrent Aspergillus infections	HP:0002724
1536	CYBB	Juvenile onset	HP:0003621
1536	CYBB	Pyloric stenosis	HP:0002021
1536	CYBB	Recurrent Staphylococcus aureus infections	HP:0002726
1536	CYBB	Gingivitis	HP:0000230
1536	CYBB	Rectal abscess	HP:0005224
1536	CYBB	Malabsorption	HP:0002024
1536	CYBB	Skin ulcer	HP:0200042
1536	CYBB	Liver abscess	HP:0100523
1536	CYBB	Chronic obstructive pulmonary disease	HP:0006510
1536	CYBB	Mediastinal lymphadenopathy	HP:0100721
1536	CYBB	Cellulitis	HP:0100658
1536	CYBB	Recurrent E. coli infections	HP:0002740
1536	CYBB	Inflammatory abnormality of the eye	HP:0100533
1536	CYBB	Severe recurrent varicella	HP:0005428
1536	CYBB	Recurrent Serratia marcescens infections	HP:0002741
1536	CYBB	Recurrent Klebsiella infections	HP:0002742
1536	CYBB	Sinusitis	HP:0000246
1536	CYBB	Discoid lupus rash	HP:0007417
1536	CYBB	Deficiency or absence of cytochrome b(-245)	HP:0003514
1548	CYP2A6	Abnormality of metabolism/homeostasis	HP:0001939
1548	CYP2A6	Autosomal dominant inheritance	HP:0000006
1548	CYP2A6	Abnormality of blood and blood-forming tissues	HP:0001871
9775	EIF4A3	Feeding difficulties	HP:0011968
9775	EIF4A3	Cleft mandible	HP:0010752
9775	EIF4A3	Prominent nose	HP:0000448
9775	EIF4A3	Short metacarpal	HP:0010049
9775	EIF4A3	Bifid uvula	HP:0000193
9775	EIF4A3	Cleft lower alveolar ridge	HP:0009094
9775	EIF4A3	Autosomal recessive inheritance	HP:0000007
9775	EIF4A3	Abnormality of the voice	HP:0001608
9775	EIF4A3	Pierre-Robin sequence	HP:0000201
9775	EIF4A3	Short phalanx of finger	HP:0009803
9775	EIF4A3	Hip dislocation	HP:0002827
9775	EIF4A3	Radial deviation of the hand	HP:0009486
9775	EIF4A3	Tibial deviation of toes	HP:0100499
9775	EIF4A3	Agenesis of mandibular central incisor	HP:0006355
9775	EIF4A3	Proximal placement of thumb	HP:0009623
9775	EIF4A3	High palate	HP:0000218
9775	EIF4A3	Hip subluxation	HP:0030043
9775	EIF4A3	Protruding ear	HP:0000411
9775	EIF4A3	Fibular hypoplasia	HP:0003038
9775	EIF4A3	Narrow mouth	HP:0000160
9775	EIF4A3	Short stature	HP:0004322
9775	EIF4A3	Talipes equinovarus	HP:0001762
9775	EIF4A3	Acetabular dysplasia	HP:0008807
9775	EIF4A3	Abnormality of the aryepiglottic fold	HP:0008744
9775	EIF4A3	Short tibia	HP:0005736
9775	EIF4A3	Hypoplasia of the radius	HP:0002984
9775	EIF4A3	Global developmental delay	HP:0001263
9775	EIF4A3	Low-set ears	HP:0000369
9775	EIF4A3	Aplasia of the epiglottis	HP:0008753
9775	EIF4A3	Clinodactyly of the 5th finger	HP:0004209
9775	EIF4A3	Short thumb	HP:0009778
9775	EIF4A3	Microretrognathia	HP:0000308
1605	DAG1	Macrocephaly	HP:0000256
1605	DAG1	Skeletal muscle atrophy	HP:0003202
1605	DAG1	Areflexia	HP:0001284
1605	DAG1	Cataract	HP:0000518
1605	DAG1	Autosomal recessive inheritance	HP:0000007
1605	DAG1	Optic atrophy	HP:0000648
1605	DAG1	Infantile onset	HP:0003593
1605	DAG1	Generalized hypotonia	HP:0001290
1605	DAG1	Metatarsus valgus	HP:0010508
1605	DAG1	Anophthalmia	HP:0000528
1605	DAG1	Abnormal levels of creatine kinase in blood	HP:0040081
1605	DAG1	Corneal opacity	HP:0007957
1605	DAG1	Pachygyria	HP:0001302
1605	DAG1	Dandy-Walker malformation	HP:0001305
1605	DAG1	Protruding ear	HP:0000411
1605	DAG1	Cryptorchidism	HP:0000028
1605	DAG1	Retinal detachment	HP:0000541
1605	DAG1	Hypoplasia of the corpus callosum	HP:0002079
1605	DAG1	Hypoplasia of penis	HP:0008736
1605	DAG1	Myopia	HP:0000545
1605	DAG1	Elevated serum creatine phosphokinase	HP:0003236
1605	DAG1	Retinal dysplasia	HP:0007973
1605	DAG1	Cerebellar vermis hypoplasia	HP:0001320
1605	DAG1	Cerebellar hypoplasia	HP:0001321
1605	DAG1	Retinal dystrophy	HP:0000556
1605	DAG1	Muscle weakness	HP:0001324
1605	DAG1	Buphthalmos	HP:0000557
1605	DAG1	Cerebellar cyst	HP:0002350
1605	DAG1	Specific learning disability	HP:0001328
1605	DAG1	Submucous cleft hard palate	HP:0000176
1605	DAG1	Chorioretinal dysplasia	HP:0007731
1605	DAG1	Absent septum pellucidum	HP:0001331
1605	DAG1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
1605	DAG1	Microphthalmia	HP:0000568
1605	DAG1	Macrogyria	HP:0007227
1605	DAG1	Lissencephaly	HP:0001339
1605	DAG1	Respiratory failure	HP:0002878
1605	DAG1	Gowers sign	HP:0003391
1605	DAG1	Absent speech	HP:0001344
1605	DAG1	Bifid uvula	HP:0000193
1605	DAG1	Ankle contracture	HP:0006466
1605	DAG1	Ventriculomegaly	HP:0002119
1605	DAG1	Polymicrogyria	HP:0002126
1605	DAG1	Cerebral calcification	HP:0002514
1605	DAG1	Intellectual disability	HP:0001249
1605	DAG1	Microcornea	HP:0000482
1605	DAG1	Seizures	HP:0001250
1605	DAG1	Iris coloboma	HP:0000612
1605	DAG1	Muscular hypotonia	HP:0001252
1605	DAG1	Posteriorly rotated ears	HP:0000358
1605	DAG1	Muscular dystrophy	HP:0003560
1605	DAG1	Hydrocephalus	HP:0000238
1605	DAG1	Delayed speech and language development	HP:0000750
1605	DAG1	Global developmental delay	HP:0001263
1605	DAG1	Leukodystrophy	HP:0002415
1605	DAG1	Abnormal aldolase level	HP:0012400
1605	DAG1	Abnormal lactate dehydrogenase activity	HP:0045040
1605	DAG1	Hyporeflexia	HP:0001265
1605	DAG1	Low-set ears	HP:0000369
1605	DAG1	Variable expressivity	HP:0003828
1605	DAG1	Poor head control	HP:0002421
1605	DAG1	Glaucoma	HP:0000501
1605	DAG1	Agenesis of corpus callosum	HP:0001274
1605	DAG1	Lumbar hyperlordosis	HP:0002938
1605	DAG1	Microcephaly	HP:0000252
1605	DAG1	Limb-girdle muscle weakness	HP:0003325
124590	USH1G	Abnormal electroretinogram	HP:0000512
124590	USH1G	Aplasia/Hypoplasia of the cerebellum	HP:0007360
124590	USH1G	Cataract	HP:0000518
124590	USH1G	Autosomal recessive inheritance	HP:0000007
124590	USH1G	Cerebral cortical atrophy	HP:0002120
124590	USH1G	Depressivity	HP:0000716
124590	USH1G	Schizophrenia	HP:0100753
124590	USH1G	Nyctalopia	HP:0000662
124590	USH1G	Sensorineural hearing impairment	HP:0000407
124590	USH1G	Vestibular dysfunction	HP:0001751
124590	USH1G	Hemianopia	HP:0012377
124590	USH1G	Vestibular hypofunction	HP:0001756
124590	USH1G	Intellectual disability	HP:0001249
124590	USH1G	Hallucinations	HP:0000738
124590	USH1G	Anxiety	HP:0000739
124590	USH1G	Ataxia	HP:0001251
124590	USH1G	Hypoplasia of the nasal bone	HP:0004646
124590	USH1G	Abnormality of dental enamel	HP:0000682
124590	USH1G	Global developmental delay	HP:0001263
124590	USH1G	Iris hypopigmentation	HP:0007730
124590	USH1G	High hypermetropia	HP:0008499
124590	USH1G	Abnormal cochlea morphology	HP:0000375
124590	USH1G	Visual loss	HP:0000572
124590	USH1G	Subcortical cerebral atrophy	HP:0012157
124590	USH1G	Rod-cone dystrophy	HP:0000510
124590	USH1G	Scotoma	HP:0000575
83696	TRAPPC9	Short philtrum	HP:0000322
83696	TRAPPC9	Autosomal recessive inheritance	HP:0000007
83696	TRAPPC9	Cerebral cortical atrophy	HP:0002120
83696	TRAPPC9	Infantile onset	HP:0003593
83696	TRAPPC9	Generalized myoclonic seizures	HP:0002123
83696	TRAPPC9	Multifocal cerebral white matter abnormalities	HP:0007052
83696	TRAPPC9	Cleft upper lip	HP:0000204
83696	TRAPPC9	Congenital hypothyroidism	HP:0000851
83696	TRAPPC9	Narrow forehead	HP:0000341
83696	TRAPPC9	Short neck	HP:0000470
83696	TRAPPC9	Synophrys	HP:0000664
83696	TRAPPC9	Large fleshy ears	HP:0002265
83696	TRAPPC9	Hypotelorism	HP:0000601
83696	TRAPPC9	Congenital stationary night blindness	HP:0007642
83696	TRAPPC9	Downturned corners of mouth	HP:0002714
83696	TRAPPC9	Thin upper lip vermilion	HP:0000219
83696	TRAPPC9	Horizontal eyebrow	HP:0011228
83696	TRAPPC9	Tapered finger	HP:0001182
83696	TRAPPC9	Epicanthus	HP:0000286
83696	TRAPPC9	Abnormality of the cerebellar vermis	HP:0002334
83696	TRAPPC9	Hypoplasia of the corpus callosum	HP:0002079
83696	TRAPPC9	Intellectual disability	HP:0001249
83696	TRAPPC9	Seizures	HP:0001250
83696	TRAPPC9	Underdeveloped supraorbital ridges	HP:0009891
83696	TRAPPC9	Muscular hypotonia	HP:0001252
83696	TRAPPC9	Truncal obesity	HP:0001956
83696	TRAPPC9	Cerebellar hypoplasia	HP:0001321
83696	TRAPPC9	Obesity	HP:0001513
83696	TRAPPC9	Postnatal microcephaly	HP:0005484
83696	TRAPPC9	Wide nasal bridge	HP:0000431
83696	TRAPPC9	Global developmental delay	HP:0001263
83696	TRAPPC9	Intellectual disability, severe	HP:0010864
83696	TRAPPC9	Hyperactivity	HP:0000752
83696	TRAPPC9	Clinodactyly of the 5th finger	HP:0004209
83696	TRAPPC9	Round face	HP:0000311
83696	TRAPPC9	Brachycephaly	HP:0000248
83696	TRAPPC9	Microcephaly	HP:0000252
83696	TRAPPC9	Hypertelorism	HP:0000316
83696	TRAPPC9	Malignant hyperthermia	HP:0002047
83696	TRAPPC9	Smooth philtrum	HP:0000319
9992	KCNE2	Torsade de pointes	HP:0001664
9992	KCNE2	Heterogeneous	HP:0001425
9992	KCNE2	Autosomal dominant inheritance	HP:0000006
9992	KCNE2	Atrial fibrillation	HP:0005110
9992	KCNE2	Prolonged QT interval	HP:0001657
9992	KCNE2	Sudden cardiac death	HP:0001645
9992	KCNE2	Syncope	HP:0001279
9992	KCNE2	Ventricular fibrillation	HP:0001663
9997	SCO2	Myopia	HP:0000545
9997	SCO2	Neuronal loss in central nervous system	HP:0002529
9997	SCO2	Limited extraocular movements	HP:0007941
9997	SCO2	Autosomal dominant inheritance	HP:0000006
9997	SCO2	Increased serum lactate	HP:0002151
9997	SCO2	Autosomal recessive inheritance	HP:0000007
9997	SCO2	Hypertrophic cardiomyopathy	HP:0001639
9997	SCO2	Feeding difficulties in infancy	HP:0008872
9997	SCO2	Generalized hypotonia	HP:0001290
9997	SCO2	Global developmental delay	HP:0001263
9997	SCO2	Death in infancy	HP:0001522
9997	SCO2	Respiratory distress	HP:0002098
9997	SCO2	Basal ganglia gliosis	HP:0006999
9997	SCO2	Lactic acidosis	HP:0003128
9997	SCO2	Congenital onset	HP:0003577
9997	SCO2	Increased CSF lactate	HP:0002490
83737	ITCH	Hepatomegaly	HP:0002240
83737	ITCH	Camptodactyly	HP:0012385
83737	ITCH	Relative macrocephaly	HP:0004482
83737	ITCH	Clinodactyly	HP:0030084
83737	ITCH	Posteriorly rotated ears	HP:0000358
83737	ITCH	Autosomal recessive inheritance	HP:0000007
83737	ITCH	Proptosis	HP:0000520
83737	ITCH	Short chin	HP:0000331
83737	ITCH	Dolichocephaly	HP:0000268
83737	ITCH	Chronic diarrhea	HP:0002028
83737	ITCH	Prominent occiput	HP:0000269
83737	ITCH	Abnormal facial shape	HP:0001999
83737	ITCH	Global developmental delay	HP:0001263
83737	ITCH	Autoimmunity	HP:0002960
83737	ITCH	Splenomegaly	HP:0001744
83737	ITCH	Low-set ears	HP:0000369
83737	ITCH	Frontal bossing	HP:0002007
1837	DTNA	Left ventricular hypertrophy	HP:0001712
1837	DTNA	Left ventricular noncompaction cardiomyopathy	HP:0011664
1837	DTNA	Congestive heart failure	HP:0001635
1837	DTNA	Ventricular arrhythmia	HP:0004308
1837	DTNA	Mitral regurgitation	HP:0001653
1837	DTNA	Atrial fibrillation	HP:0005110
1837	DTNA	Autosomal dominant inheritance	HP:0000006
1837	DTNA	Left ventricular noncompaction	HP:0030682
1837	DTNA	Patent ductus arteriosus	HP:0001643
1837	DTNA	Sudden cardiac death	HP:0001645
1837	DTNA	Ventricular septal defect	HP:0001629
1837	DTNA	Hypoplastic left heart	HP:0004383
1861	TOR1A	Anxiety	HP:0000739
1861	TOR1A	Spinal myoclonus	HP:0010531
1861	TOR1A	Blepharospasm	HP:0000643
1861	TOR1A	Abnormal posturing	HP:0002533
1861	TOR1A	Autosomal dominant inheritance	HP:0000006
1861	TOR1A	Abnormality of the voice	HP:0001608
1861	TOR1A	Gait disturbance	HP:0001288
1861	TOR1A	Generalized hypotonia	HP:0001290
1861	TOR1A	Personality disorder	HP:0012075
1861	TOR1A	Hyperlordosis	HP:0003307
1861	TOR1A	Depressivity	HP:0000716
1861	TOR1A	Dysarthria	HP:0001260
1861	TOR1A	Obsessive-compulsive behavior	HP:0000722
1861	TOR1A	Writer's cramp	HP:0002356
1861	TOR1A	Panic attack	HP:0025269
1861	TOR1A	Incomplete penetrance	HP:0003829
1861	TOR1A	Kyphosis	HP:0002808
1861	TOR1A	Torsion dystonia	HP:0001304
1861	TOR1A	Torticollis	HP:0000473
1861	TOR1A	Tremor	HP:0001337
1861	TOR1A	Scoliosis	HP:0002650
1861	TOR1A	Limb myoclonus	HP:0045084
1861	TOR1A	Hypertonia	HP:0001276
10084	PQBP1	Joint contracture of the hand	HP:0009473
10084	PQBP1	Cataract	HP:0000518
10084	PQBP1	Sparse hair	HP:0008070
10084	PQBP1	Cerebral atrophy	HP:0002059
10084	PQBP1	X-linked recessive inheritance	HP:0001419
10084	PQBP1	Abnormality of the rib cage	HP:0001547
10084	PQBP1	Arachnodactyly	HP:0001166
10084	PQBP1	Malar flattening	HP:0000272
10084	PQBP1	Macrotia	HP:0000400
10084	PQBP1	Narrow face	HP:0000275
10084	PQBP1	Long face	HP:0000276
10084	PQBP1	Protruding ear	HP:0000411
10084	PQBP1	Hypermetropia	HP:0000540
10084	PQBP1	Bulbous nose	HP:0000414
10084	PQBP1	Macroglossia	HP:0000158
10084	PQBP1	Epicanthus	HP:0000286
10084	PQBP1	Decreased testicular size	HP:0008734
10084	PQBP1	Narrow mouth	HP:0000160
10084	PQBP1	Situs inversus totalis	HP:0001696
10084	PQBP1	Wide nasal bridge	HP:0000431
10084	PQBP1	Cleft palate	HP:0000175
10084	PQBP1	Mandibular prognathia	HP:0000303
10084	PQBP1	Hypospadias	HP:0000047
10084	PQBP1	Microphthalmia	HP:0000568
10084	PQBP1	Short philtrum	HP:0000322
10084	PQBP1	Hyperreflexia	HP:0001347
10084	PQBP1	Triangular face	HP:0000325
10084	PQBP1	Upslanted palpebral fissure	HP:0000582
10084	PQBP1	Nasal speech	HP:0001611
10084	PQBP1	Phimosis	HP:0001741
10084	PQBP1	Coloboma	HP:0000589
10084	PQBP1	Nail dystrophy	HP:0008404
10084	PQBP1	Renal hypoplasia	HP:0000089
10084	PQBP1	Scoliosis	HP:0002650
10084	PQBP1	Sparse lateral eyebrow	HP:0005338
10084	PQBP1	High palate	HP:0000218
10084	PQBP1	Micrognathia	HP:0000347
10084	PQBP1	Thin upper lip vermilion	HP:0000219
10084	PQBP1	Ventricular septal defect	HP:0001629
10084	PQBP1	Atrial septal defect	HP:0001631
10084	PQBP1	Dry hair	HP:0011359
10084	PQBP1	Intellectual disability	HP:0001249
10084	PQBP1	Camptodactyly	HP:0012385
10084	PQBP1	Pes cavus	HP:0001761
10084	PQBP1	Short stature	HP:0004322
10084	PQBP1	Seizures	HP:0001250
10084	PQBP1	Anxiety	HP:0000739
10084	PQBP1	Tetralogy of Fallot	HP:0001636
10084	PQBP1	Strabismus	HP:0000486
10084	PQBP1	Anal atresia	HP:0002023
10084	PQBP1	Spasticity	HP:0001257
10084	PQBP1	Blindness	HP:0000618
10084	PQBP1	Hearing impairment	HP:0000365
10084	PQBP1	Global developmental delay	HP:0001263
10084	PQBP1	Spastic diplegia	HP:0001264
10084	PQBP1	Poor suck	HP:0002033
10084	PQBP1	Clinodactyly of the 5th finger	HP:0004209
10084	PQBP1	Death in infancy	HP:0001522
10084	PQBP1	Brachycephaly	HP:0000248
10084	PQBP1	Cupped ear	HP:0000378
10084	PQBP1	Narrow foot	HP:0001786
10084	PQBP1	Brittle hair	HP:0002299
10084	PQBP1	Microcephaly	HP:0000252
10084	PQBP1	Pectus excavatum	HP:0000767
1908	EDN3	Autosomal dominant inheritance	HP:0000006
1908	EDN3	Autosomal recessive inheritance	HP:0000007
1908	EDN3	Heterogeneous	HP:0001425
1908	EDN3	Abnormality of temperature regulation	HP:0004370
1908	EDN3	Sensorineural hearing impairment	HP:0000407
1908	EDN3	Abnormality of retinal pigmentation	HP:0007703
1908	EDN3	Synophrys	HP:0000664
1908	EDN3	Abnormality of the mouth	HP:0000153
1908	EDN3	Hypopigmented skin patches	HP:0001053
1908	EDN3	Adducted thumb	HP:0001181
1908	EDN3	Weight loss	HP:0001824
1908	EDN3	White forelock	HP:0002211
1908	EDN3	Premature graying of hair	HP:0002216
1908	EDN3	Prominent nasal bridge	HP:0000426
1908	EDN3	Respiratory insufficiency	HP:0002093
1908	EDN3	Underdeveloped nasal alae	HP:0000430
1908	EDN3	Wide nasal bridge	HP:0000431
1908	EDN3	White eyebrow	HP:0002226
1908	EDN3	White eyelashes	HP:0002227
1908	EDN3	Olfactory lobe agenesis	HP:0001341
1908	EDN3	Ganglioneuroma	HP:0003005
1908	EDN3	Neoplasm of the thyroid gland	HP:0100031
1908	EDN3	Cognitive impairment	HP:0100543
1908	EDN3	Feeding difficulties	HP:0011968
1908	EDN3	Central hypoventilation	HP:0007110
1908	EDN3	Sepsis	HP:0100806
1908	EDN3	Aganglionic megacolon	HP:0002251
1908	EDN3	Intestinal polyposis	HP:0200008
1908	EDN3	Heterochromia iridis	HP:0001100
1908	EDN3	Abnormal macular morphology	HP:0001103
1908	EDN3	Hyperhidrosis	HP:0000975
1908	EDN3	Abnormality of the cardiovascular system	HP:0001626
1908	EDN3	Ganglioneuroblastoma	HP:0006747
1908	EDN3	Diarrhea	HP:0002014
1908	EDN3	Intestinal obstruction	HP:0005214
1908	EDN3	Intellectual disability	HP:0001249
1908	EDN3	Nausea and vomiting	HP:0002017
1908	EDN3	Short stature	HP:0004322
1908	EDN3	Seizures	HP:0001250
1908	EDN3	Constipation	HP:0002019
1908	EDN3	Muscular hypotonia	HP:0001252
1908	EDN3	Posteriorly rotated ears	HP:0000358
1908	EDN3	Abdominal pain	HP:0002027
1908	EDN3	Hearing impairment	HP:0000365
1908	EDN3	Downslanted palpebral fissures	HP:0000494
1908	EDN3	Low-set ears	HP:0000369
1908	EDN3	Abnormality of vision	HP:0000504
1908	EDN3	Telecanthus	HP:0000506
1908	EDN3	Blue irides	HP:0000635
1908	EDN3	Failure to thrive in infancy	HP:0001531
1909	EDNRA	Preauricular skin tag	HP:0000384
1909	EDNRA	Glossoptosis	HP:0000162
1909	EDNRA	Facial asymmetry	HP:0000324
1909	EDNRA	Dental crowding	HP:0000678
1909	EDNRA	Autosomal dominant inheritance	HP:0000006
1909	EDNRA	Hypoplasia of the maxilla	HP:0000327
1909	EDNRA	Everted lower lip vermilion	HP:0000232
1909	EDNRA	Delayed eruption of primary teeth	HP:0000680
1909	EDNRA	Hydroureter	HP:0000072
1909	EDNRA	Mandibulofacial dysostosis	HP:0005321
1909	EDNRA	Lower eyelid coloboma	HP:0000652
1909	EDNRA	Sparse eyelashes	HP:0000653
1909	EDNRA	Bicuspid aortic valve	HP:0001647
1909	EDNRA	Wide nasal bridge	HP:0000431
1909	EDNRA	Cleft palate	HP:0000175
1909	EDNRA	Low-set ears	HP:0000369
1909	EDNRA	Stenosis of the external auditory canal	HP:0000402
1909	EDNRA	Preauricular pit	HP:0004467
1909	EDNRA	Trismus	HP:0000211
1909	EDNRA	Conductive hearing impairment	HP:0000405
1909	EDNRA	Sparse and thin eyebrow	HP:0000535
1909	EDNRA	Cupped ear	HP:0000378
1909	EDNRA	Protruding ear	HP:0000411
1909	EDNRA	Micrognathia	HP:0000347
1917	EEF1A2	Depressed nasal bridge	HP:0005280
1917	EEF1A2	Intellectual disability	HP:0001249
1917	EEF1A2	Seizures	HP:0001250
1917	EEF1A2	Muscular hypotonia	HP:0001252
1917	EEF1A2	Epileptic encephalopathy	HP:0200134
1917	EEF1A2	Autosomal dominant inheritance	HP:0000006
1917	EEF1A2	Neonatal hypotonia	HP:0001319
1917	EEF1A2	Everted lower lip vermilion	HP:0000232
1917	EEF1A2	Infantile onset	HP:0003593
1917	EEF1A2	Deeply set eye	HP:0000490
1917	EEF1A2	Postnatal microcephaly	HP:0005484
1917	EEF1A2	Unsteady gait	HP:0002317
1917	EEF1A2	Aggressive behavior	HP:0000718
1917	EEF1A2	Downslanted palpebral fissures	HP:0000494
1917	EEF1A2	Global developmental delay	HP:0001263
1917	EEF1A2	Intellectual disability, severe	HP:0010864
1917	EEF1A2	Low-set ears	HP:0000369
1917	EEF1A2	Tented upper lip vermilion	HP:0010804
1917	EEF1A2	Hypsarrhythmia	HP:0002521
1917	EEF1A2	Downturned corners of mouth	HP:0002714
1917	EEF1A2	Microcephaly	HP:0000252
1917	EEF1A2	Epicanthus	HP:0000286
346007	EYS	Abnormal electroretinogram	HP:0000512
346007	EYS	Hyperreflexia	HP:0001347
346007	EYS	Cataract	HP:0000518
346007	EYS	Autosomal recessive inheritance	HP:0000007
346007	EYS	Hypogonadism	HP:0000135
346007	EYS	Optic atrophy	HP:0000648
346007	EYS	Hyperinsulinemia	HP:0000842
346007	EYS	Anteverted nares	HP:0000463
346007	EYS	Conductive hearing impairment	HP:0000405
346007	EYS	Nyctalopia	HP:0000662
346007	EYS	Sensorineural hearing impairment	HP:0000407
346007	EYS	Abnormality of retinal pigmentation	HP:0007703
346007	EYS	Type II diabetes mellitus	HP:0005978
346007	EYS	Ophthalmoplegia	HP:0000602
346007	EYS	Atypical scarring of skin	HP:0000987
346007	EYS	Hypoplasia of penis	HP:0008736
346007	EYS	Intellectual disability	HP:0001249
346007	EYS	Attenuation of retinal blood vessels	HP:0007843
346007	EYS	Abnormality of the testis	HP:0000035
346007	EYS	Photophobia	HP:0000613
346007	EYS	Undetectable electroretinogram	HP:0000550
346007	EYS	Obesity	HP:0001513
346007	EYS	Blindness	HP:0000618
346007	EYS	Constriction of peripheral visual field	HP:0001133
346007	EYS	Abnormality of the retinal vasculature	HP:0008046
346007	EYS	Wide nasal bridge	HP:0000431
346007	EYS	Keratoconus	HP:0000563
346007	EYS	Glaucoma	HP:0000501
346007	EYS	Bone spicule pigmentation of the retina	HP:0007737
346007	EYS	Progressive night blindness	HP:0007675
346007	EYS	Rod-cone dystrophy	HP:0000510
346007	EYS	Nystagmus	HP:0000639
1954	MEGF8	Pectus carinatum	HP:0000768
1954	MEGF8	Umbilical hernia	HP:0001537
1954	MEGF8	Brachydactyly	HP:0001156
1954	MEGF8	Transposition of the great arteries	HP:0001669
1954	MEGF8	Oxycephaly	HP:0000263
1954	MEGF8	Autosomal recessive inheritance	HP:0000007
1954	MEGF8	Postaxial hand polydactyly	HP:0001162
1954	MEGF8	Retrognathia	HP:0000278
1954	MEGF8	Sparse and thin eyebrow	HP:0000535
1954	MEGF8	Sensorineural hearing impairment	HP:0000407
1954	MEGF8	Midface retrusion	HP:0011800
1954	MEGF8	Protruding ear	HP:0000411
1954	MEGF8	Cryptorchidism	HP:0000028
1954	MEGF8	Epicanthus	HP:0000286
1954	MEGF8	Depressed nasal bridge	HP:0005280
1954	MEGF8	Situs inversus totalis	HP:0001696
1954	MEGF8	Postaxial polydactyly	HP:0100259
1954	MEGF8	Preaxial polydactyly	HP:0100258
1954	MEGF8	Broad thumb	HP:0011304
1954	MEGF8	Genu valgum	HP:0002857
1954	MEGF8	External genital hypoplasia	HP:0003241
1954	MEGF8	Wide nasal bridge	HP:0000431
1954	MEGF8	Preaxial foot polydactyly	HP:0001841
1954	MEGF8	Shawl scrotum	HP:0000049
1954	MEGF8	Micropenis	HP:0000054
1954	MEGF8	Cutaneous finger syndactyly	HP:0010554
1954	MEGF8	Hypertelorism	HP:0000316
1954	MEGF8	Narrow palate	HP:0000189
1954	MEGF8	Kyphoscoliosis	HP:0002751
1954	MEGF8	Upslanted palpebral fissure	HP:0000582
1954	MEGF8	Narrow naris	HP:0009933
1954	MEGF8	Cutis laxa	HP:0000973
1954	MEGF8	Anteverted nares	HP:0000463
1954	MEGF8	Webbed neck	HP:0000465
1954	MEGF8	Wide intermamillary distance	HP:0006610
1954	MEGF8	Craniosynostosis	HP:0001363
1954	MEGF8	Polysplenia	HP:0001748
1954	MEGF8	Finger syndactyly	HP:0006101
1954	MEGF8	Short neck	HP:0000470
1954	MEGF8	Frontal bossing	HP:0002007
1954	MEGF8	High palate	HP:0000218
1954	MEGF8	Atrial septal defect	HP:0001631
1954	MEGF8	Intellectual disability	HP:0001249
1954	MEGF8	Abnormality of the cornea	HP:0000481
1954	MEGF8	Camptodactyly	HP:0012385
1954	MEGF8	Talipes equinovarus	HP:0001762
1954	MEGF8	Obesity	HP:0001513
1954	MEGF8	Toe syndactyly	HP:0001770
1954	MEGF8	Patent ductus arteriosus	HP:0001643
1954	MEGF8	Global developmental delay	HP:0001263
1954	MEGF8	Low-set ears	HP:0000369
1954	MEGF8	Trigonocephaly	HP:0000243
1954	MEGF8	Cloverleaf skull	HP:0002676
1954	MEGF8	Brachycephaly	HP:0000248
1954	MEGF8	Highly arched eyebrow	HP:0002553
1954	MEGF8	Coxa vara	HP:0002812
1954	MEGF8	Hypoplastic nipples	HP:0002557
1954	MEGF8	Supernumerary nipple	HP:0002558
1954	MEGF8	Pectus excavatum	HP:0000767
1954	MEGF8	Aplasia of the middle phalanx of the hand	HP:0010239
51128	SAR1B	Hypoalbuminemia	HP:0003073
51128	SAR1B	EMG: myopathic abnormalities	HP:0003458
51128	SAR1B	Areflexia	HP:0001284
51128	SAR1B	Abdominal distention	HP:0003270
51128	SAR1B	Autosomal recessive inheritance	HP:0000007
51128	SAR1B	Acanthocytosis	HP:0001927
51128	SAR1B	Infantile onset	HP:0003593
51128	SAR1B	Steatorrhea	HP:0002570
51128	SAR1B	Hypocholesterolemia	HP:0003146
51128	SAR1B	Abnormality of blood and blood-forming tissues	HP:0001871
51128	SAR1B	Impaired proprioception	HP:0010831
51128	SAR1B	Vomiting	HP:0002013
51128	SAR1B	Abnormality of vitamin metabolism	HP:0100508
51128	SAR1B	Abnormality of the eye	HP:0000478
51128	SAR1B	Diarrhea	HP:0002014
51128	SAR1B	Elevated hepatic transaminases	HP:0002910
51128	SAR1B	Intellectual disability	HP:0001249
51128	SAR1B	Reduced tendon reflexes	HP:0001315
51128	SAR1B	Failure to thrive	HP:0001508
51128	SAR1B	Increased hepatocellular lipid droplets	HP:0006565
51128	SAR1B	Growth delay	HP:0001510
51128	SAR1B	Retinopathy	HP:0000488
51128	SAR1B	Malnutrition	HP:0004395
51128	SAR1B	Decreased circulating low-density lipoprotein levels	HP:0003563
51128	SAR1B	Hepatic steatosis	HP:0001397
51128	SAR1B	Visual impairment	HP:0000505
51128	SAR1B	Impaired vibratory sensation	HP:0002495
255928	SYT14	Limb ataxia	HP:0002070
255928	SYT14	Autosomal recessive inheritance	HP:0000007
255928	SYT14	Cerebellar atrophy	HP:0001272
255928	SYT14	Impaired smooth pursuit	HP:0007772
255928	SYT14	Dysarthria	HP:0001260
255928	SYT14	Slow progression	HP:0003677
255928	SYT14	Truncal ataxia	HP:0002078
255928	SYT14	Global developmental delay	HP:0001263
255928	SYT14	Dysphagia	HP:0002015
255928	SYT14	Nystagmus	HP:0000639
2006	ELN	Hypercalcemia	HP:0003072
2006	ELN	Umbilical hernia	HP:0001537
2006	ELN	Autosomal dominant inheritance	HP:0000006
2006	ELN	Cataract	HP:0000518
2006	ELN	Recurrent urinary tract infections	HP:0000010
2006	ELN	Abnormality iris morphology	HP:0000525
2006	ELN	Tracheoesophageal fistula	HP:0002575
2006	ELN	Bladder diverticulum	HP:0000015
2006	ELN	Large earlobe	HP:0009748
2006	ELN	Inguinal hernia	HP:0000023
2006	ELN	Abnormality of extrapyramidal motor function	HP:0002071
2006	ELN	Midface retrusion	HP:0011800
2006	ELN	Functional abnormality of male internal genitalia	HP:0000025
2006	ELN	Coronary artery stenosis	HP:0005145
2006	ELN	Abnormality of refraction	HP:0000539
2006	ELN	Hyperacusis	HP:0010780
2006	ELN	Cryptorchidism	HP:0000028
2006	ELN	Nevus flammeus	HP:0001052
2006	ELN	Hypoplasia of penis	HP:0008736
2006	ELN	Myopia	HP:0000545
2006	ELN	Flat cornea	HP:0007720
2006	ELN	Left ventricular failure	HP:0005162
2006	ELN	Impaired visuospatial constructive cognition	HP:0010794
2006	ELN	Hypogonadotrophic hypogonadism	HP:0000044
2006	ELN	Redundant skin	HP:0001582
2006	ELN	Abnormality of lipid metabolism	HP:0003119
2006	ELN	Celiac disease	HP:0002608
2006	ELN	Emphysema	HP:0002097
2006	ELN	Micropenis	HP:0000054
2006	ELN	Open bite	HP:0010807
2006	ELN	Aortic root aneurysm	HP:0002616
2006	ELN	Hemoptysis	HP:0002105
2006	ELN	Cholelithiasis	HP:0001081
2006	ELN	Pneumothorax	HP:0002107
2006	ELN	Joint hyperflexibility	HP:0005692
2006	ELN	Overriding aorta	HP:0002623
2006	ELN	Obsessive-compulsive trait	HP:0008770
2006	ELN	Blepharophimosis	HP:0000581
2006	ELN	Vocal cord paralysis	HP:0001605
2006	ELN	Cerebral cortical atrophy	HP:0002120
2006	ELN	Hoarse voice	HP:0001609
2006	ELN	Renal duplication	HP:0000075
2006	ELN	Vesicoureteral reflux	HP:0000076
2006	ELN	Cerebral ischemia	HP:0002637
2006	ELN	Dysphonia	HP:0001618
2006	ELN	Renal insufficiency	HP:0000083
2006	ELN	Abnormality of pelvic girdle bone morphology	HP:0002644
2006	ELN	Renal hypoplasia	HP:0000089
2006	ELN	Hypotelorism	HP:0000601
2006	ELN	Subarachnoid hemorrhage	HP:0002138
2006	ELN	Scoliosis	HP:0002650
2006	ELN	Ischemic stroke	HP:0002140
2006	ELN	Ventricular septal defect	HP:0001629
2006	ELN	Gait imbalance	HP:0002141
2006	ELN	Proteinuria	HP:0000093
2006	ELN	Atrial septal defect	HP:0001631
2006	ELN	Tall stature	HP:0000098
2006	ELN	Mitral valve prolapse	HP:0001634
2006	ELN	Congestive heart failure	HP:0001635
2006	ELN	Tetralogy of Fallot	HP:0001636
2006	ELN	Hypercalciuria	HP:0002150
2006	ELN	Bowel diverticulosis	HP:0005222
2006	ELN	Hypertrophic cardiomyopathy	HP:0001639
2006	ELN	Cardiomegaly	HP:0001640
2006	ELN	Pulmonic stenosis	HP:0001642
2006	ELN	Patent ductus arteriosus	HP:0001643
2006	ELN	Sudden cardiac death	HP:0001645
2006	ELN	Bicuspid aortic valve	HP:0001647
2006	ELN	Retinal arteriolar tortuosity	HP:0001136
2006	ELN	Clinodactyly of the 5th finger	HP:0004209
2006	ELN	Posterior embryotoxon	HP:0000627
2006	ELN	Mitral regurgitation	HP:0001653
2006	ELN	Periorbital fullness	HP:0000629
2006	ELN	Abnormal heart valve morphology	HP:0001654
2006	ELN	Lacrimation abnormality	HP:0000632
2006	ELN	Nephrocalcinosis	HP:0000121
2006	ELN	Myocardial infarction	HP:0001658
2006	ELN	Aortic regurgitation	HP:0001659
2006	ELN	Blue irides	HP:0000635
2006	ELN	Short nose	HP:0003196
2006	ELN	Pelvic kidney	HP:0000125
2006	ELN	Prenatal maternal abnormality	HP:0002686
2006	ELN	Myopathy	HP:0003198
2006	ELN	Increased nuchal translucency	HP:0010880
2006	ELN	Amblyopia	HP:0000646
2006	ELN	Phonophobia	HP:0002183
2006	ELN	Coronary artery atherosclerosis	HP:0001677
2006	ELN	Arachnodactyly	HP:0001166
2006	ELN	High, narrow palate	HP:0002705
2006	ELN	Polycystic ovaries	HP:0000147
2006	ELN	Wide mouth	HP:0000154
2006	ELN	Hypodontia	HP:0000668
2006	ELN	Myxomatous mitral valve degeneration	HP:0004764
2006	ELN	Recurrent respiratory infections	HP:0002205
2006	ELN	Adducted thumb	HP:0001181
2006	ELN	Macroglossia	HP:0000158
2006	ELN	Carious teeth	HP:0000670
2006	ELN	Depressed nasal bridge	HP:0005280
2006	ELN	Early onset of sexual maturation	HP:0100000
2006	ELN	Chronic constipation	HP:0012450
2006	ELN	Sudden death	HP:0001699
2006	ELN	Elevated serum creatine phosphokinase	HP:0003236
2006	ELN	Feeding difficulties in infancy	HP:0008872
2006	ELN	Premature graying of hair	HP:0002216
2006	ELN	Abnormality of dental enamel	HP:0000682
2006	ELN	Dental malocclusion	HP:0000689
2006	ELN	Thick lower lip vermilion	HP:0000179
2006	ELN	Microdontia	HP:0000691
2006	ELN	Overfriendliness	HP:0100025
2006	ELN	Periorbital edema	HP:0100539
2006	ELN	Delayed skeletal maturation	HP:0002750
2006	ELN	Kyphoscoliosis	HP:0002751
2006	ELN	Open mouth	HP:0000194
2006	ELN	Abnormality of the gastric mucosa	HP:0004295
2006	ELN	Atrophy/Degeneration involving the corticospinal tracts	HP:0007372
2006	ELN	Depressivity	HP:0000716
2006	ELN	Colonic diverticula	HP:0002253
2006	ELN	Autism	HP:0000717
2006	ELN	Abnormality of the fingernails	HP:0001231
2006	ELN	Obsessive-compulsive behavior	HP:0000722
2006	ELN	Abnormal endocardium morphology	HP:0004306
2006	ELN	Descending aortic dissection	HP:0012499
2006	ELN	Gingival overgrowth	HP:0000212
2006	ELN	Abnormal carotid artery morphology	HP:0005344
2006	ELN	Intellectual disability	HP:0001249
2006	ELN	Short stature	HP:0004322
2006	ELN	Spina bifida occulta	HP:0003298
2006	ELN	Pes planus	HP:0001763
2006	ELN	Anxiety	HP:0000739
2006	ELN	Muscular hypotonia	HP:0001252
2006	ELN	Everted lower lip vermilion	HP:0000232
2006	ELN	Spasticity	HP:0001257
2006	ELN	Hyperlordosis	HP:0003307
2006	ELN	Dysarthria	HP:0001260
2006	ELN	Abnormal form of the vertebral bodies	HP:0003312
2006	ELN	Kyphosis	HP:0002808
2006	ELN	Increased bone mineral density	HP:0011001
2006	ELN	Microcephaly	HP:0000252
2006	ELN	Abnormality of the sternum	HP:0000766
2006	ELN	Pectus excavatum	HP:0000767
2006	ELN	Small nail	HP:0001792
2006	ELN	Death in early adulthood	HP:0100613
2006	ELN	Arnold-Chiari malformation	HP:0002308
2006	ELN	Incoordination	HP:0002311
2006	ELN	Hypoplastic toenails	HP:0001800
2006	ELN	Generalized hypotonia	HP:0001290
2006	ELN	Arthralgia	HP:0002829
2006	ELN	Abnormality of the face	HP:0000271
2006	ELN	Malar flattening	HP:0000272
2006	ELN	Stroke	HP:0001297
2006	ELN	Narrow face	HP:0000275
2006	ELN	Nephrolithiasis	HP:0000787
2006	ELN	Corneal opacity	HP:0007957
2006	ELN	Transient ischemic attack	HP:0002326
2006	ELN	Retrognathia	HP:0000278
2006	ELN	Coarse facial features	HP:0000280
2006	ELN	Supravalvular aortic stenosis	HP:0004381
2006	ELN	Dysmetria	HP:0001310
2006	ELN	Dysgraphia	HP:0010526
2006	ELN	Hallux valgus	HP:0001822
2006	ELN	Epicanthus	HP:0000286
2006	ELN	Full cheeks	HP:0000293
2006	ELN	Enuresis	HP:0000805
2006	ELN	Genu valgum	HP:0002857
2006	ELN	Cerebellar hypoplasia	HP:0001321
2006	ELN	Peptic ulcer	HP:0004398
2006	ELN	Pointed chin	HP:0000307
2006	ELN	High hypermetropia	HP:0008499
2006	ELN	Diabetes mellitus	HP:0000819
2006	ELN	Abnormal dermatoglyphics	HP:0007477
2006	ELN	Hypothyroidism	HP:0000821
2006	ELN	Hypertension	HP:0000822
2006	ELN	Sleep disturbance	HP:0002360
2006	ELN	Tremor	HP:0001337
2006	ELN	Precocious puberty	HP:0000826
2006	ELN	Exertional dyspnea	HP:0002875
2006	ELN	Hypertelorism	HP:0000316
2006	ELN	Pulmonary artery stenosis	HP:0004415
2006	ELN	Glucose intolerance	HP:0000833
2006	ELN	Poor coordination	HP:0002370
2006	ELN	Hyperreflexia	HP:0001347
2006	ELN	Ascending aortic dissection	HP:0004933
2006	ELN	Prematurely aged appearance	HP:0007495
2006	ELN	Premature skin wrinkling	HP:0100678
2006	ELN	Developmental regression	HP:0002376
2006	ELN	Elfin facies	HP:0004428
2006	ELN	Aortic aneurysm	HP:0004942
2006	ELN	Dilatation of the cerebral artery	HP:0004944
2006	ELN	Broad forehead	HP:0000337
2006	ELN	Nystagmus-induced head nodding	HP:0001361
2006	ELN	Narrow forehead	HP:0000341
2006	ELN	Peripheral arterial stenosis	HP:0004950
2006	ELN	Down-sloping shoulders	HP:0200021
2006	ELN	Long philtrum	HP:0000343
2006	ELN	Type II diabetes mellitus	HP:0005978
2006	ELN	Micrognathia	HP:0000347
2006	ELN	Flexion contracture	HP:0001371
2006	ELN	High forehead	HP:0000348
2006	ELN	Vertebral segmentation defect	HP:0003422
2006	ELN	Descending thoracic aorta aneurysm	HP:0004959
2006	ELN	Hypovolemia	HP:0011106
2006	ELN	Peripheral pulmonary artery stenosis	HP:0004969
2006	ELN	Attention deficit hyperactivity disorder	HP:0007018
2006	ELN	Joint stiffness	HP:0001387
2006	ELN	Joint laxity	HP:0001388
2006	ELN	Low-set, posteriorly rotated ears	HP:0000368
2006	ELN	Aplasia/Hypoplasia of the iris	HP:0008053
2006	ELN	Renal artery stenosis	HP:0001920
2006	ELN	Portal hypertension	HP:0001409
2006	ELN	Carotid artery dilatation	HP:0012163
2006	ELN	Chronic otitis media	HP:0000389
2006	ELN	Chest pain	HP:0100749
2006	ELN	Macrotia	HP:0000400
2006	ELN	Heterogeneous	HP:0001425
2006	ELN	Recurrent otitis media	HP:0000403
2006	ELN	Sensorineural hearing impairment	HP:0000407
2006	ELN	Protruding ear	HP:0000411
2006	ELN	Arrhythmia	HP:0011675
2006	ELN	Radioulnar synostosis	HP:0002974
2006	ELN	Dural ectasia	HP:0100775
2006	ELN	Abnormality of the diencephalon	HP:0010662
2006	ELN	Osteopenia	HP:0000938
2006	ELN	Osteoporosis	HP:0000939
2006	ELN	Hypoplasia of the zygomatic bone	HP:0010669
2006	ELN	Wide nasal bridge	HP:0000431
2006	ELN	Insomnia	HP:0100785
2006	ELN	Tubulointerstitial abnormality	HP:0001969
2006	ELN	Patellar dislocation	HP:0002999
2006	ELN	Multiple renal cysts	HP:0005562
2006	ELN	Arnold-Chiari type I malformation	HP:0007099
2006	ELN	Sacral dimple	HP:0000960
2006	ELN	Cutis marmorata	HP:0000965
2006	ELN	Broad nasal tip	HP:0000455
2006	ELN	Cutis laxa	HP:0000973
2006	ELN	Abnormality of the neck	HP:0000464
2006	ELN	Renovascular hypertension	HP:0100817
2006	ELN	Cystic medial necrosis of the aorta	HP:0200146
2006	ELN	Soft skin	HP:0000977
2006	ELN	Bruising susceptibility	HP:0000978
2006	ELN	Abnormality of the ankles	HP:0003028
2006	ELN	Urethral stenosis	HP:0008661
2006	ELN	Paroxysmal dyspnea	HP:0012763
2006	ELN	Nausea and vomiting	HP:0002017
2006	ELN	Constipation	HP:0002019
2006	ELN	Gastroesophageal reflux	HP:0002020
2006	ELN	Megalocornea	HP:0000485
2006	ELN	Strabismus	HP:0000486
2006	ELN	Intrauterine growth retardation	HP:0001511
2006	ELN	Malabsorption	HP:0002024
2006	ELN	Obesity	HP:0001513
2006	ELN	Abdominal pain	HP:0002027
2006	ELN	Rectal prolapse	HP:0002035
2006	ELN	Glaucoma	HP:0000501
2006	ELN	Abdominal aortic aneurysm	HP:0005112
2006	ELN	Aortic arch aneurysm	HP:0005113
2006	ELN	Visual impairment	HP:0000505
2006	ELN	Failure to thrive in infancy	HP:0001531
2006	ELN	Medial flaring of the eyebrow	HP:0010747
51199	NIN	Prominent nose	HP:0000448
51199	NIN	Seizures	HP:0001250
51199	NIN	Abnormality of the carpal bones	HP:0001191
51199	NIN	Intrauterine growth retardation	HP:0001511
51199	NIN	Autosomal recessive inheritance	HP:0000007
51199	NIN	Microtia	HP:0008551
51199	NIN	Hip dysplasia	HP:0001385
51199	NIN	Central hypothyroidism	HP:0011787
51199	NIN	Hypoplasia of the uterus	HP:0000013
51199	NIN	Intellectual disability, severe	HP:0010864
51199	NIN	Severe global developmental delay	HP:0011344
51199	NIN	Lumbar scoliosis	HP:0004626
51199	NIN	Primary amenorrhea	HP:0000786
51199	NIN	Severe short stature	HP:0003510
51199	NIN	Hypotelorism	HP:0000601
51199	NIN	Madelung deformity	HP:0003067
51199	NIN	Microcephaly	HP:0000252
51199	NIN	Delayed skeletal maturation	HP:0002750
10300	KATNB1	Seizures	HP:0001250
10300	KATNB1	Hyperreflexia	HP:0001347
10300	KATNB1	Ventriculomegaly	HP:0002119
10300	KATNB1	Autosomal recessive inheritance	HP:0000007
10300	KATNB1	Spasticity	HP:0001257
10300	KATNB1	Infantile onset	HP:0003593
10300	KATNB1	Limb hypertonia	HP:0002509
10300	KATNB1	Polymicrogyria	HP:0002126
10300	KATNB1	Global developmental delay	HP:0001263
10300	KATNB1	Sloping forehead	HP:0000340
10300	KATNB1	Pachygyria	HP:0001302
10300	KATNB1	Motor delay	HP:0001270
10300	KATNB1	Cortical gyral simplification	HP:0009879
10300	KATNB1	Partial agenesis of the corpus callosum	HP:0001338
10300	KATNB1	Lissencephaly	HP:0001339
10300	KATNB1	Microcephaly	HP:0000252
10300	KATNB1	Cognitive impairment	HP:0100543
10300	KATNB1	Hypoplasia of the corpus callosum	HP:0002079
10370	CITED2	Perimembranous ventricular septal defect	HP:0011682
10370	CITED2	Underdeveloped supraorbital ridges	HP:0009891
10370	CITED2	Brachydactyly	HP:0001156
10370	CITED2	Tetralogy of Fallot	HP:0001636
10370	CITED2	Autosomal dominant inheritance	HP:0000006
10370	CITED2	Intrauterine growth retardation	HP:0001511
10370	CITED2	Proptosis	HP:0000520
10370	CITED2	Thin vermilion border	HP:0000233
10370	CITED2	Dolichocephaly	HP:0000268
10370	CITED2	Broad forehead	HP:0000337
10370	CITED2	Abnormal nasal morphology	HP:0005105
10370	CITED2	Clinodactyly of the 5th finger	HP:0004209
10370	CITED2	Preauricular pit	HP:0004467
10370	CITED2	Cryptorchidism	HP:0000028
10370	CITED2	Atrial septal defect	HP:0001631
2189	FANCG	Umbilical hernia	HP:0001537
2189	FANCG	Duodenal stenosis	HP:0100867
2189	FANCG	Cataract	HP:0000518
2189	FANCG	Abnormality of femur morphology	HP:0002823
2189	FANCG	Hypogonadism	HP:0000135
2189	FANCG	Proptosis	HP:0000520
2189	FANCG	Decreased fertility in males	HP:0012041
2189	FANCG	Recurrent urinary tract infections	HP:0000010
2189	FANCG	Hip dislocation	HP:0002827
2189	FANCG	Dolichocephaly	HP:0000268
2189	FANCG	Multiple cafe-au-lait spots	HP:0007565
2189	FANCG	Tracheoesophageal fistula	HP:0002575
2189	FANCG	Abnormal aortic morphology	HP:0001679
2189	FANCG	Pyridoxine-responsive sideroblastic anemia	HP:0005522
2189	FANCG	Abnormality of chromosome stability	HP:0003220
2189	FANCG	Abnormality of the thumb	HP:0001172
2189	FANCG	Clubbing of toes	HP:0100760
2189	FANCG	Oligohydramnios	HP:0001562
2189	FANCG	Azoospermia	HP:0000027
2189	FANCG	Cryptorchidism	HP:0000028
2189	FANCG	Hypopigmented skin patches	HP:0001053
2189	FANCG	Epicanthus	HP:0000286
2189	FANCG	Weight loss	HP:0001824
2189	FANCG	Cranial nerve paralysis	HP:0006824
2189	FANCG	Bicornuate uterus	HP:0000813
2189	FANCG	Myelodysplasia	HP:0002863
2189	FANCG	Triphalangeal thumb	HP:0001199
2189	FANCG	Cleft palate	HP:0000175
2189	FANCG	Hypospadias	HP:0000047
2189	FANCG	Aplasia/Hypoplasia of the uvula	HP:0010293
2189	FANCG	Microphthalmia	HP:0000568
2189	FANCG	Arteriovenous malformation	HP:0100026
2189	FANCG	Hypertelorism	HP:0000316
2189	FANCG	Abnormal localization of kidney	HP:0100542
2189	FANCG	Almond-shaped palpebral fissure	HP:0007874
2189	FANCG	Hyperreflexia	HP:0001347
2189	FANCG	Facial asymmetry	HP:0000324
2189	FANCG	Meckel diverticulum	HP:0002245
2189	FANCG	Choanal atresia	HP:0000453
2189	FANCG	Upslanted palpebral fissure	HP:0000582
2189	FANCG	Ventriculomegaly	HP:0002119
2189	FANCG	Hydroureter	HP:0000072
2189	FANCG	Short palpebral fissure	HP:0012745
2189	FANCG	Aganglionic megacolon	HP:0002251
2189	FANCG	Hypoplasia of the ulna	HP:0003022
2189	FANCG	Thrombocytopenia	HP:0001873
2189	FANCG	Neutropenia	HP:0001875
2189	FANCG	Renal insufficiency	HP:0000083
2189	FANCG	Sloping forehead	HP:0000340
2189	FANCG	Finger syndactyly	HP:0006101
2189	FANCG	Frontal bossing	HP:0002007
2189	FANCG	Scoliosis	HP:0002650
2189	FANCG	High palate	HP:0000218
2189	FANCG	Leukopenia	HP:0001882
2189	FANCG	Micrognathia	HP:0000347
2189	FANCG	Atrial septal defect	HP:0001631
2189	FANCG	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2189	FANCG	Abnormal carotid artery morphology	HP:0005344
2189	FANCG	Intellectual disability	HP:0001249
2189	FANCG	Short stature	HP:0004322
2189	FANCG	Pes planus	HP:0001763
2189	FANCG	Astigmatism	HP:0000483
2189	FANCG	Tetralogy of Fallot	HP:0001636
2189	FANCG	Aplasia/Hypoplasia of the radius	HP:0006501
2189	FANCG	Absent testis	HP:0010469
2189	FANCG	Growth delay	HP:0001510
2189	FANCG	Renal hypoplasia/aplasia	HP:0008678
2189	FANCG	Strabismus	HP:0000486
2189	FANCG	Intrauterine growth retardation	HP:0001511
2189	FANCG	Anal atresia	HP:0002023
2189	FANCG	Hypertrophic cardiomyopathy	HP:0001639
2189	FANCG	Irregular hyperpigmentation	HP:0007400
2189	FANCG	Toe syndactyly	HP:0001770
2189	FANCG	Abnormality of the preputium	HP:0100587
2189	FANCG	Patent ductus arteriosus	HP:0001643
2189	FANCG	Hearing impairment	HP:0000365
2189	FANCG	Hydrocephalus	HP:0000238
2189	FANCG	Spina bifida	HP:0002414
2189	FANCG	Abnormal aortic valve morphology	HP:0001646
2189	FANCG	Anemia	HP:0001903
2189	FANCG	Global developmental delay	HP:0001263
2189	FANCG	Esophageal atresia	HP:0002032
2189	FANCG	Abnormality of the liver	HP:0001392
2189	FANCG	Clinodactyly of the 5th finger	HP:0004209
2189	FANCG	Leukemia	HP:0001909
2189	FANCG	Aplasia/Hypoplasia of the iris	HP:0008053
2189	FANCG	Aplasia/Hypoplasia of fingers	HP:0006265
2189	FANCG	Visual impairment	HP:0000505
2189	FANCG	Microcephaly	HP:0000252
2189	FANCG	Ptosis	HP:0000508
2189	FANCG	External ear malformation	HP:0008572
2189	FANCG	Reduced bone mineral density	HP:0004349
2189	FANCG	Nystagmus	HP:0000639
2254	FGF9	Metatarsal synostosis	HP:0001440
2254	FGF9	Humeroradial synostosis	HP:0003041
2254	FGF9	Facial asymmetry	HP:0000324
2254	FGF9	Brachydactyly	HP:0001156
2254	FGF9	Metacarpal synostosis	HP:0009701
2254	FGF9	Autosomal dominant inheritance	HP:0000006
2254	FGF9	Broad thumb	HP:0011304
2254	FGF9	Joint stiffness	HP:0001387
2254	FGF9	Symphalangism affecting the phalanges of the hand	HP:0009773
2254	FGF9	Bilateral single transverse palmar creases	HP:0007598
2254	FGF9	Limited interphalangeal movement	HP:0006064
2254	FGF9	Cone-shaped epiphysis	HP:0010579
2254	FGF9	Conductive hearing impairment	HP:0000405
2254	FGF9	Short palm	HP:0004279
2254	FGF9	Cubitus valgus	HP:0002967
2254	FGF9	Abnormality of the nail	HP:0001597
84189	SLITRK6	Myopia	HP:0000545
84189	SLITRK6	Intellectual disability	HP:0001249
84189	SLITRK6	Conductive hearing impairment	HP:0000405
84189	SLITRK6	Hematuria	HP:0000790
84189	SLITRK6	Autosomal recessive inheritance	HP:0000007
84189	SLITRK6	High myopia	HP:0011003
84189	SLITRK6	Proteinuria	HP:0000093
26873	OPLAH	Calcium oxalate nephrolithiasis	HP:0008672
26873	OPLAH	Prolinuria	HP:0003137
26873	OPLAH	Enterocolitis	HP:0004387
26873	OPLAH	Autosomal dominant inheritance	HP:0000006
26873	OPLAH	Autosomal recessive inheritance	HP:0000007
26873	OPLAH	Abdominal pain	HP:0002027
26873	OPLAH	Vomiting	HP:0002013
26873	OPLAH	5-oxoprolinase deficiency	HP:0040142
26873	OPLAH	Diarrhea	HP:0002014
10516	FBLN5	Umbilical hernia	HP:0001537
10516	FBLN5	Autosomal dominant inheritance	HP:0000006
10516	FBLN5	Autosomal recessive inheritance	HP:0000007
10516	FBLN5	Congenital diaphragmatic hernia	HP:0000776
10516	FBLN5	Recurrent urinary tract infections	HP:0000010
10516	FBLN5	Renal diverticulum	HP:0100877
10516	FBLN5	Overgrowth	HP:0001548
10516	FBLN5	Arachnodactyly	HP:0001166
10516	FBLN5	Delayed cranial suture closure	HP:0000270
10516	FBLN5	Bladder diverticulum	HP:0000015
10516	FBLN5	Atelectasis	HP:0100750
10516	FBLN5	Abnormality of the face	HP:0000271
10516	FBLN5	Heterogeneous	HP:0001425
10516	FBLN5	Peripheral axonal neuropathy	HP:0003477
10516	FBLN5	Inguinal hernia	HP:0000023
10516	FBLN5	Oligohydramnios	HP:0001562
10516	FBLN5	Arrhythmia	HP:0011675
10516	FBLN5	Distal muscle weakness	HP:0002460
10516	FBLN5	Supravalvular aortic stenosis	HP:0004381
10516	FBLN5	Recurrent respiratory infections	HP:0002205
10516	FBLN5	Decreased patellar reflex	HP:0011808
10516	FBLN5	Ileus	HP:0002595
10516	FBLN5	Full cheeks	HP:0000293
10516	FBLN5	Osteoporosis	HP:0000939
10516	FBLN5	Redundant skin	HP:0001582
10516	FBLN5	Emphysema	HP:0002097
10516	FBLN5	Respiratory distress	HP:0002098
10516	FBLN5	Hypothyroidism	HP:0000821
10516	FBLN5	Aortic root aneurysm	HP:0002616
10516	FBLN5	Age-related macular degeneration	HP:0007868
10516	FBLN5	Hypertelorism	HP:0000316
10516	FBLN5	Joint hyperflexibility	HP:0005692
10516	FBLN5	Arterial stenosis	HP:0100545
10516	FBLN5	Arterial fibromuscular dysplasia	HP:0005313
10516	FBLN5	Recurrent fractures	HP:0002757
10516	FBLN5	Premature skin wrinkling	HP:0100678
10516	FBLN5	Vesicoureteral reflux	HP:0000076
10516	FBLN5	Cutis laxa	HP:0000973
10516	FBLN5	Hyperextensible skin	HP:0000974
10516	FBLN5	Aortic aneurysm	HP:0004942
10516	FBLN5	Vascular tortuosity	HP:0004948
10516	FBLN5	Wormian bones	HP:0002645
10516	FBLN5	Scoliosis	HP:0002650
10516	FBLN5	Pes cavus	HP:0001761
10516	FBLN5	Congestive heart failure	HP:0001635
10516	FBLN5	Joint hypermobility	HP:0001382
10516	FBLN5	Bowel diverticulosis	HP:0005222
10516	FBLN5	Pulmonic stenosis	HP:0001642
10516	FBLN5	Joint laxity	HP:0001388
10516	FBLN5	Distal amyotrophy	HP:0003693
10516	FBLN5	Choroidal neovascularization	HP:0011506
10516	FBLN5	Mitral regurgitation	HP:0001653
10516	FBLN5	Drusen	HP:0011510
10516	FBLN5	Abnormal heart valve morphology	HP:0001654
10516	FBLN5	Distal sensory impairment	HP:0002936
10516	FBLN5	Decreased nerve conduction velocity	HP:0000762
10516	FBLN5	Ptosis	HP:0000508
10516	FBLN5	Microcephaly	HP:0000252
10516	FBLN5	Pectus excavatum	HP:0000767
10518	CIB2	Abnormal electroretinogram	HP:0000512
10518	CIB2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
10518	CIB2	Cataract	HP:0000518
10518	CIB2	Autosomal recessive inheritance	HP:0000007
10518	CIB2	Cerebral cortical atrophy	HP:0002120
10518	CIB2	Depressivity	HP:0000716
10518	CIB2	Schizophrenia	HP:0100753
10518	CIB2	Profound sensorineural hearing impairment	HP:0011476
10518	CIB2	Nyctalopia	HP:0000662
10518	CIB2	Sensorineural hearing impairment	HP:0000407
10518	CIB2	Vestibular dysfunction	HP:0001751
10518	CIB2	Hemianopia	HP:0012377
10518	CIB2	Vestibular hypofunction	HP:0001756
10518	CIB2	Intellectual disability	HP:0001249
10518	CIB2	Hallucinations	HP:0000738
10518	CIB2	Anxiety	HP:0000739
10518	CIB2	Ataxia	HP:0001251
10518	CIB2	Abnormality of dental enamel	HP:0000682
10518	CIB2	Global developmental delay	HP:0001263
10518	CIB2	Iris hypopigmentation	HP:0007730
10518	CIB2	High hypermetropia	HP:0008499
10518	CIB2	Motor delay	HP:0001270
10518	CIB2	Abnormal cochlea morphology	HP:0000375
10518	CIB2	Congenital onset	HP:0003577
10518	CIB2	Visual loss	HP:0000572
10518	CIB2	Subcortical cerebral atrophy	HP:0012157
10518	CIB2	Rod-cone dystrophy	HP:0000510
10518	CIB2	Scotoma	HP:0000575
10599	SLCO1B1	Abnormality of the gastric mucosa	HP:0004295
10599	SLCO1B1	Autosomal recessive inheritance	HP:0000007
10599	SLCO1B1	Jaundice	HP:0000952
10599	SLCO1B1	Abnormality of skin pigmentation	HP:0001000
10599	SLCO1B1	Fever	HP:0001945
10599	SLCO1B1	Abdominal pain	HP:0002027
10599	SLCO1B1	Conjugated hyperbilirubinemia	HP:0002908
10599	SLCO1B1	Abnormality of the skeletal system	HP:0000924
10617	STAMBP	Small nail	HP:0001792
10617	STAMBP	Right ventricular hypertrophy	HP:0001667
10617	STAMBP	Clinodactyly	HP:0030084
10617	STAMBP	Brachydactyly	HP:0001156
10617	STAMBP	Spastic tetraparesis	HP:0001285
10617	STAMBP	Autosomal recessive inheritance	HP:0000007
10617	STAMBP	Hypoplasia of the maxilla	HP:0000327
10617	STAMBP	Optic atrophy	HP:0000648
10617	STAMBP	Generalized hypotonia	HP:0001290
10617	STAMBP	Cerebral atrophy	HP:0002059
10617	STAMBP	Vesicoureteral reflux	HP:0000076
10617	STAMBP	Severe global developmental delay	HP:0011344
10617	STAMBP	Sloping forehead	HP:0000340
10617	STAMBP	Short distal phalanx of finger	HP:0009882
10617	STAMBP	Ventricular septal defect	HP:0001629
10617	STAMBP	Hypoplasia of the corpus callosum	HP:0002079
10617	STAMBP	Delayed myelination	HP:0012448
10617	STAMBP	Abnormal hair whorl	HP:0010721
10617	STAMBP	Short stature	HP:0004322
10617	STAMBP	Seizures	HP:0001250
10617	STAMBP	Failure to thrive	HP:0001508
10617	STAMBP	Hearing impairment	HP:0000365
10617	STAMBP	Small for gestational age	HP:0001518
10617	STAMBP	Cleft palate	HP:0000175
10617	STAMBP	Low-set ears	HP:0000369
10617	STAMBP	Patent foramen ovale	HP:0001655
10617	STAMBP	Myoclonus	HP:0001336
10617	STAMBP	Congenital onset	HP:0003577
10617	STAMBP	Ptosis	HP:0000508
10617	STAMBP	Hypertelorism	HP:0000316
10617	STAMBP	Short nose	HP:0003196
10617	STAMBP	Wide nose	HP:0000445
10617	STAMBP	Progressive microcephaly	HP:0000253
10682	EBP	Ichthyosis	HP:0008064
10682	EBP	Aplasia/Hypoplasia of the skin	HP:0008065
10682	EBP	Cataract	HP:0000518
10682	EBP	Elevated 8-dehydrocholesterol	HP:0003462
10682	EBP	Congenital ichthyosiform erythroderma	HP:0007431
10682	EBP	Optic atrophy	HP:0000648
10682	EBP	Elevated 8(9)-cholestenol	HP:0003465
10682	EBP	Generalized hypotonia	HP:0001290
10682	EBP	X-linked recessive inheritance	HP:0001419
10682	EBP	Abnormal vertebral morphology	HP:0003468
10682	EBP	Sparse eyelashes	HP:0000653
10682	EBP	X-linked dominant inheritance	HP:0001423
10682	EBP	Malar flattening	HP:0000272
10682	EBP	Stippled calcification in carpal bones	HP:0004241
10682	EBP	Sparse and thin eyebrow	HP:0000535
10682	EBP	Sensorineural hearing impairment	HP:0000407
10682	EBP	Midface retrusion	HP:0011800
10682	EBP	Dandy-Walker malformation	HP:0001305
10682	EBP	Polyhydramnios	HP:0001561
10682	EBP	Cryptorchidism	HP:0000028
10682	EBP	Epicanthus	HP:0000286
10682	EBP	Epiphyseal stippling	HP:0010655
10682	EBP	Erythema	HP:0010783
10682	EBP	Postaxial polydactyly	HP:0100259
10682	EBP	Abnormality of the dentition	HP:0000164
10682	EBP	Foot polydactyly	HP:0001829
10682	EBP	Intellectual disability, moderate	HP:0002342
10682	EBP	Prominent nasal bridge	HP:0000426
10682	EBP	Abnormality of epiphysis morphology	HP:0005930
10682	EBP	Microretrognathia	HP:0000308
10682	EBP	Overlapping toe	HP:0001845
10682	EBP	Patellar dislocation	HP:0002999
10682	EBP	Microphthalmia	HP:0000568
10682	EBP	Alopecia	HP:0001596
10682	EBP	Overlapping fingers	HP:0010557
10682	EBP	Postnatal growth retardation	HP:0008897
10682	EBP	Tarsal stippling	HP:0008131
10682	EBP	Long fingers	HP:0100807
10682	EBP	Scarring alopecia of scalp	HP:0004552
10682	EBP	Edema	HP:0000969
10682	EBP	Rhizomelia	HP:0008905
10682	EBP	Polydactyly	HP:0010442
10682	EBP	Hemiatrophy	HP:0100556
10682	EBP	Abnormality of the fingernails	HP:0001231
10682	EBP	Flat face	HP:0012368
10682	EBP	2-3 toe syndactyly	HP:0004691
10682	EBP	Abnormality of pelvic girdle bone morphology	HP:0002644
10682	EBP	Short neck	HP:0000470
10682	EBP	Frontal bossing	HP:0002007
10682	EBP	Tracheal stenosis	HP:0002777
10682	EBP	High palate	HP:0000218
10682	EBP	Scoliosis	HP:0002650
10682	EBP	Joint dislocation	HP:0001373
10682	EBP	Abnormality of hair texture	HP:0010719
10682	EBP	Intellectual disability	HP:0001249
10682	EBP	Short stature	HP:0004322
10682	EBP	Seizures	HP:0001250
10682	EBP	Microcornea	HP:0000482
10682	EBP	Talipes equinovarus	HP:0001762
10682	EBP	Tracheal calcification	HP:0002787
10682	EBP	Phenotypic variability	HP:0003812
10682	EBP	Punctate vertebral calcifications	HP:0008420
10682	EBP	Failure to thrive	HP:0001508
10682	EBP	Hip dysplasia	HP:0001385
10682	EBP	Hearing impairment	HP:0000365
10682	EBP	Hydrocephalus	HP:0000238
10682	EBP	Downslanted palpebral fissures	HP:0000494
10682	EBP	Global developmental delay	HP:0001263
10682	EBP	Hyperactivity	HP:0000752
10682	EBP	Concave nasal ridge	HP:0011120
10682	EBP	Bilateral talipes equinovarus	HP:0001776
10682	EBP	Low-set ears	HP:0000369
10682	EBP	Clinodactyly of the 5th finger	HP:0004209
10682	EBP	Aortic valve stenosis	HP:0001650
10682	EBP	Variable expressivity	HP:0003828
10682	EBP	Glaucoma	HP:0000501
10682	EBP	Kyphosis	HP:0002808
10682	EBP	Congenital onset	HP:0003577
10682	EBP	Abnormality of the pinna	HP:0000377
10682	EBP	Hemivertebrae	HP:0002937
10682	EBP	Erythroderma	HP:0001019
10682	EBP	Ptosis	HP:0000508
10682	EBP	Abnormality of the thorax	HP:0000765
10682	EBP	Hydronephrosis	HP:0000126
10682	EBP	Nystagmus	HP:0000639
51660	MPC1	Hepatomegaly	HP:0002240
51660	MPC1	Seizures	HP:0001250
51660	MPC1	Peripheral neuropathy	HP:0009830
51660	MPC1	Increased serum lactate	HP:0002151
51660	MPC1	Autosomal recessive inheritance	HP:0000007
51660	MPC1	Organic aciduria	HP:0001992
51660	MPC1	Generalized hypotonia	HP:0001290
51660	MPC1	Global developmental delay	HP:0001263
51660	MPC1	Rotary nystagmus	HP:0001583
51660	MPC1	Respiratory distress	HP:0002098
51660	MPC1	Encephalopathy	HP:0001298
51660	MPC1	Variable expressivity	HP:0003828
51660	MPC1	Increased serum pyruvate	HP:0003542
51660	MPC1	Long philtrum	HP:0000343
51660	MPC1	Hypoglycemia	HP:0001943
51660	MPC1	Lactic acidosis	HP:0003128
51660	MPC1	Congenital onset	HP:0003577
51660	MPC1	Thin upper lip vermilion	HP:0000219
51660	MPC1	Progressive microcephaly	HP:0000253
51660	MPC1	Epicanthus	HP:0000286
2566	GABRG2	Cutaneous photosensitivity	HP:0000992
2566	GABRG2	Atonic seizures	HP:0010819
2566	GABRG2	Ataxia	HP:0001251
2566	GABRG2	Muscular hypotonia	HP:0001252
2566	GABRG2	Febrile seizures	HP:0002373
2566	GABRG2	Autosomal dominant inheritance	HP:0000006
2566	GABRG2	Generalized tonic-clonic seizures with focal onset	HP:0007334
2566	GABRG2	Absence seizures	HP:0002121
2566	GABRG2	Generalized myoclonic seizures	HP:0002123
2566	GABRG2	Pschomotor retardation	HP:0025356
2566	GABRG2	Obtundation status	HP:0011151
2566	GABRG2	Focal seizures with impairment of consciousness or awareness	HP:0002384
2566	GABRG2	EEG abnormality	HP:0002353
2566	GABRG2	Variable expressivity	HP:0003828
2566	GABRG2	Generalized tonic-clonic seizures	HP:0002069
2566	GABRG2	Neurodevelopmental delay	HP:0012758
2566	GABRG2	Tremor	HP:0001337
2566	GABRG2	Focal clonic seizures	HP:0002266
2566	GABRG2	Focal seizures	HP:0007359
10841	FTCD	Intellectual disability	HP:0001249
10841	FTCD	Megaloblastic anemia	HP:0001889
10841	FTCD	Hypersegmentation of neutrophil nuclei	HP:0004821
10841	FTCD	Growth delay	HP:0001510
10841	FTCD	Autosomal recessive inheritance	HP:0000007
10841	FTCD	Aminoaciduria	HP:0003355
10841	FTCD	Positive ferric chloride test	HP:0003612
2683	B4GALT1	Macrocephaly	HP:0000256
2683	B4GALT1	Elevated serum creatine phosphokinase	HP:0003236
2683	B4GALT1	Muscular hypotonia	HP:0001252
2683	B4GALT1	Autosomal recessive inheritance	HP:0000007
2683	B4GALT1	Abnormality of coagulation	HP:0001928
2683	B4GALT1	Dandy-Walker malformation	HP:0001305
2683	B4GALT1	Generalized hypotonia	HP:0001290
2683	B4GALT1	Myopathy	HP:0003198
2683	B4GALT1	Hydrocephalus	HP:0000238
2683	B4GALT1	Global developmental delay	HP:0001263
10892	MALT1	Weight loss	HP:0001824
10892	MALT1	Immunodeficiency	HP:0002721
10892	MALT1	Nausea and vomiting	HP:0002017
10892	MALT1	Pulmonary infiltrates	HP:0002113
10892	MALT1	Constipation	HP:0002019
10892	MALT1	Growth delay	HP:0001510
10892	MALT1	Abnormal morphology of the nasolacrimal system	HP:0000614
10892	MALT1	Autosomal recessive inheritance	HP:0000007
10892	MALT1	Osteoporosis	HP:0000939
10892	MALT1	Abdominal pain	HP:0002027
10892	MALT1	Recurrent viral infections	HP:0004429
10892	MALT1	Anemia	HP:0001903
10892	MALT1	Hyperhidrosis	HP:0000975
10892	MALT1	Mediastinal lymphadenopathy	HP:0100721
10892	MALT1	Abnormality of the thyroid gland	HP:0000820
10892	MALT1	Fever	HP:0001945
10892	MALT1	Visual impairment	HP:0000505
10892	MALT1	Fatigue	HP:0012378
10892	MALT1	Posterior uveitis	HP:0012123
10892	MALT1	Recurrent respiratory infections	HP:0002205
10892	MALT1	Delayed skeletal maturation	HP:0002750
10892	MALT1	Recurrent bacterial infections	HP:0002718
10892	MALT1	B-cell lymphoma	HP:0012191
27286	SRPX2	Autosomal dominant inheritance	HP:0000006
27286	SRPX2	Frontoparietal polymicrogyria	HP:0007095
27286	SRPX2	Intellectual disability, mild	HP:0001256
27286	SRPX2	Speech apraxia	HP:0011098
27286	SRPX2	Focal seizures	HP:0007359
2778	GNAS	Macrocephaly	HP:0000256
2778	GNAS	Autosomal dominant inheritance	HP:0000006
2778	GNAS	Cataract	HP:0000518
2778	GNAS	Infantile onset	HP:0003593
2778	GNAS	Confusion	HP:0001289
2778	GNAS	Hypermelanotic macule	HP:0001034
2778	GNAS	Prolactin deficiency	HP:0008202
2778	GNAS	Ectopic calcification	HP:0010766
2778	GNAS	Generalized hyperpigmentation	HP:0007440
2778	GNAS	Laryngeal dystonia	HP:0012049
2778	GNAS	Nephrolithiasis	HP:0000787
2778	GNAS	Coarse facial features	HP:0000280
2778	GNAS	Polyphagia	HP:0002591
2778	GNAS	Pituitary resistance to thyroid hormone	HP:0008227
2778	GNAS	Testicular neoplasm	HP:0010788
2778	GNAS	Full cheeks	HP:0000293
2778	GNAS	Juvenile onset	HP:0003621
2778	GNAS	Macronodular adrenal hyperplasia	HP:0008231
2778	GNAS	Mood changes	HP:0001575
2778	GNAS	Short toe	HP:0001831
2778	GNAS	Long penis	HP:0000040
2778	GNAS	Striae distensae	HP:0001065
2778	GNAS	Meningioma	HP:0002858
2778	GNAS	Primary hypercorticolism	HP:0001579
2778	GNAS	Broad 1st metacarpal	HP:0010027
2778	GNAS	Muscle weakness	HP:0001324
2778	GNAS	Increased circulating cortisol level	HP:0003118
2778	GNAS	Dyspnea	HP:0002094
2778	GNAS	Mandibular prognathia	HP:0000303
2778	GNAS	Hypergonadotropic hypogonadism	HP:0000815
2778	GNAS	Choroid plexus calcification	HP:0006960
2778	GNAS	Diabetes mellitus	HP:0000819
2778	GNAS	Hypothyroidism	HP:0000821
2778	GNAS	Macroorchidism	HP:0000053
2778	GNAS	Dyskinesia	HP:0100660
2778	GNAS	Hypertension	HP:0000822
2778	GNAS	Round face	HP:0000311
2778	GNAS	Open bite	HP:0010807
2778	GNAS	Growth hormone deficiency	HP:0000824
2778	GNAS	Short 3rd metacarpal	HP:0010041
2778	GNAS	Precocious puberty	HP:0000826
2778	GNAS	Abnormality of the parathyroid gland	HP:0000828
2778	GNAS	Short 4th metacarpal	HP:0010044
2778	GNAS	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}	HP:0030269
2778	GNAS	Short 5th metacarpal	HP:0010047
2778	GNAS	Short metacarpal	HP:0010049
2778	GNAS	Muscle cramps	HP:0003394
2778	GNAS	Hyperthyroidism	HP:0000836
2778	GNAS	Facial asymmetry	HP:0000324
2778	GNAS	Increased bone density with cystic changes	HP:0005700
2778	GNAS	Cortical subperiosteal resorption of humeral metaphyses	HP:0003909
2778	GNAS	Paresthesia	HP:0003401
2778	GNAS	Band keratopathy	HP:0000585
2778	GNAS	Hyperparathyroidism	HP:0000843
2778	GNAS	Intestinal polyposis	HP:0200008
2778	GNAS	Pituitary adenoma	HP:0002893
2778	GNAS	Growth hormone excess	HP:0000845
2778	GNAS	Pseudohypoparathyroidism	HP:0000852
2778	GNAS	Goiter	HP:0000853
2778	GNAS	Hypocalcemia	HP:0002901
2778	GNAS	Prolactinoma	HP:0040278
2778	GNAS	Hyperostosis frontalis interna	HP:0004438
2778	GNAS	Basal ganglia calcification	HP:0002135
2778	GNAS	Hyperphosphatemia	HP:0002905
2778	GNAS	Menstrual irregularities	HP:0000858
2778	GNAS	Fatigue	HP:0012378
2778	GNAS	Skeletal dysplasia	HP:0002652
2778	GNAS	Progressive	HP:0003676
2778	GNAS	Elevated circulating parathyroid hormone level	HP:0003165
2778	GNAS	Bone pain	HP:0002653
2778	GNAS	Abnormal platelet function	HP:0011869
2778	GNAS	Elevated hepatic transaminases	HP:0002910
2778	GNAS	Limitation of joint mobility	HP:0001376
2778	GNAS	Short fifth metatarsal	HP:0004704
2778	GNAS	Papule	HP:0200034
2778	GNAS	Tall stature	HP:0000098
2778	GNAS	Hypophosphatemia	HP:0002148
2778	GNAS	Cardiomyopathy	HP:0001638
2778	GNAS	Prolactin excess	HP:0000870
2778	GNAS	Neoplasm	HP:0002664
2778	GNAS	Decreased circulating ACTH level	HP:0002920
2778	GNAS	Blindness	HP:0000618
2778	GNAS	Hearing abnormality	HP:0000364
2778	GNAS	Oligomenorrhea	HP:0000876
2778	GNAS	Hearing impairment	HP:0000365
2778	GNAS	Pituitary prolactin cell adenoma	HP:0006767
2778	GNAS	Prolonged QT interval	HP:0001657
2778	GNAS	Thickened calvaria	HP:0002684
2778	GNAS	Nystagmus	HP:0000639
2778	GNAS	Low urinary cyclic AMP response to PTH administration	HP:0003456
2778	GNAS	Spinal cord compression	HP:0002176
2778	GNAS	Skeletal muscle atrophy	HP:0003202
2778	GNAS	Brachydactyly	HP:0001156
2778	GNAS	Hypogonadism	HP:0000135
2778	GNAS	Optic atrophy	HP:0000648
2778	GNAS	Chest pain	HP:0100749
2778	GNAS	Multiple cafe-au-lait spots	HP:0007565
2778	GNAS	Craniofacial hyperostosis	HP:0004493
2778	GNAS	Menometrorrhagia	HP:0400008
2778	GNAS	Hypocalcemic tetany	HP:0003472
2778	GNAS	Polycystic ovaries	HP:0000147
2778	GNAS	Sarcoma	HP:0100242
2778	GNAS	Somatic mutation	HP:0001428
2778	GNAS	Osteoma	HP:0100246
2778	GNAS	Hypocalcemic seizures	HP:0002199
2778	GNAS	Sensorineural hearing impairment	HP:0000407
2778	GNAS	Hypoplasia of dental enamel	HP:0006297
2778	GNAS	Constrictive median neuropathy	HP:0012185
2778	GNAS	Myoclonic spasms	HP:0003739
2778	GNAS	Carious teeth	HP:0000670
2778	GNAS	Depressed nasal bridge	HP:0005280
2778	GNAS	Sporadic	HP:0003745
2778	GNAS	Somatic mosaicism	HP:0001442
2778	GNAS	Truncal obesity	HP:0001956
2778	GNAS	Short finger	HP:0009381
2778	GNAS	Osteopenia	HP:0000938
2778	GNAS	Abnormality of dental enamel	HP:0000682
2778	GNAS	Broad distal phalanx of the thumb	HP:0009642
2778	GNAS	Osteoporosis	HP:0000939
2778	GNAS	Delayed eruption of teeth	HP:0000684
2778	GNAS	Neoplasm of the breast	HP:0100013
2778	GNAS	Abnormality of the palate	HP:0000174
2778	GNAS	Left ventricular hypertrophy	HP:0001712
2778	GNAS	Calcinosis	HP:0003761
2778	GNAS	Generalized hirsutism	HP:0002230
2778	GNAS	Abnormality of the skin	HP:0000951
2778	GNAS	Cognitive impairment	HP:0100543
2778	GNAS	Neoplasm of the thyroid gland	HP:0100031
2778	GNAS	Prolonged bleeding time	HP:0003010
2778	GNAS	Abdominal symptom	HP:0011458
2778	GNAS	Thin skin	HP:0000963
2778	GNAS	Abnormality of the musculature	HP:0003011
2778	GNAS	Osteoma cutis	HP:0025027
2778	GNAS	Pathologic fracture	HP:0002756
2778	GNAS	Psychosis	HP:0000709
2778	GNAS	Recurrent fractures	HP:0002757
2778	GNAS	Osteoarthritis	HP:0002758
2778	GNAS	Elevated calcitonin	HP:0003528
2778	GNAS	Agitation	HP:0000713
2778	GNAS	Subcutaneous nodule	HP:0001482
2778	GNAS	Depressivity	HP:0000716
2778	GNAS	Bruising susceptibility	HP:0000978
2778	GNAS	Ectopic ossification	HP:0011986
2778	GNAS	Ectopic ossification in muscle tissue	HP:0011987
2778	GNAS	Short neck	HP:0000470
2778	GNAS	Diaphyseal sclerosis	HP:0003034
2778	GNAS	Galactorrhea	HP:0100829
2778	GNAS	Intellectual disability	HP:0001249
2778	GNAS	Irritability	HP:0000737
2778	GNAS	Seizures	HP:0001250
2778	GNAS	Short stature	HP:0004322
2778	GNAS	Anxiety	HP:0000739
2778	GNAS	Phenotypic variability	HP:0003812
2778	GNAS	Failure to thrive	HP:0001508
2778	GNAS	Large cafe-au-lait macules with irregular margins	HP:0005605
2778	GNAS	Growth delay	HP:0001510
2778	GNAS	Strabismus	HP:0000486
2778	GNAS	Obesity	HP:0001513
2778	GNAS	Fibrous dysplasia of the bones	HP:0010734
2778	GNAS	Polyostotic fibrous dysplasia	HP:0010735
2778	GNAS	Pituitary growth hormone cell adenoma	HP:0011760
2778	GNAS	Hyporeflexia	HP:0001265
2778	GNAS	Choreoathetosis	HP:0001266
2778	GNAS	Mental deterioration	HP:0001268
2778	GNAS	Variable expressivity	HP:0003828
2778	GNAS	Short metatarsal	HP:0010743
2778	GNAS	Kyphosis	HP:0002808
2778	GNAS	Abnormality of vision	HP:0000504
2778	GNAS	Increased bone mineral density	HP:0011001
2778	GNAS	Adult onset	HP:0003581
2778	GNAS	Reduced bone mineral density	HP:0004349
2778	GNAS	Conjunctivitis	HP:0000509
2799	GNS	Absent speech	HP:0001344
2799	GNS	Hepatomegaly	HP:0002240
2799	GNS	Drooling	HP:0002307
2799	GNS	Thickened ribs	HP:0000900
2799	GNS	Cellular metachromasia	HP:0003653
2799	GNS	Asymmetric septal hypertrophy	HP:0001670
2799	GNS	Autosomal recessive inheritance	HP:0000007
2799	GNS	Anteverted nares	HP:0000463
2799	GNS	Splenomegaly	HP:0001744
2799	GNS	Prominent forehead	HP:0011220
2799	GNS	Short neck	HP:0000470
2799	GNS	Frontal bossing	HP:0002007
2799	GNS	Coarse facial features	HP:0000280
2799	GNS	Synophrys	HP:0000664
2799	GNS	Wide mouth	HP:0000154
2799	GNS	Flexion contracture	HP:0001371
2799	GNS	Progressive	HP:0003676
2799	GNS	Diarrhea	HP:0002014
2799	GNS	Dysphagia	HP:0002015
2799	GNS	Coarse hair	HP:0002208
2799	GNS	Depressed nasal bridge	HP:0005280
2799	GNS	Intellectual disability	HP:0001249
2799	GNS	Seizures	HP:0001250
2799	GNS	Growth abnormality	HP:0001507
2799	GNS	Recurrent upper respiratory tract infections	HP:0002788
2799	GNS	Joint stiffness	HP:0001387
2799	GNS	Dysarthria	HP:0001260
2799	GNS	Hearing impairment	HP:0000365
2799	GNS	Ovoid thoracolumbar vertebrae	HP:0003309
2799	GNS	Hirsutism	HP:0001007
2799	GNS	Heparan sulfate excretion in urine	HP:0002159
2799	GNS	Dysostosis multiplex	HP:0000943
2799	GNS	Hyperactivity	HP:0000752
2799	GNS	Low-set ears	HP:0000369
2799	GNS	Thick lower lip vermilion	HP:0000179
2799	GNS	Sleep disturbance	HP:0002360
2799	GNS	Thick eyebrow	HP:0000574
2934	GSN	Generalized amyloid deposition	HP:0003216
2934	GSN	Bulbar palsy	HP:0001283
2934	GSN	Renal insufficiency	HP:0000083
2934	GSN	Nephrotic syndrome	HP:0000100
2934	GSN	Cardiomyopathy	HP:0001638
2934	GSN	Autosomal dominant inheritance	HP:0000006
2934	GSN	Polyneuropathy	HP:0001271
2934	GSN	Cardiac amyloidosis	HP:0030843
2934	GSN	Lattice corneal dystrophy	HP:0001149
2934	GSN	Adult onset	HP:0003581
2934	GSN	Cutis laxa	HP:0000973
2934	GSN	Abnormality of abdomen morphology	HP:0001438
60528	ELAC2	Congestive heart failure	HP:0001635
60528	ELAC2	Failure to thrive	HP:0001508
60528	ELAC2	Growth delay	HP:0001510
60528	ELAC2	Autosomal recessive inheritance	HP:0000007
60528	ELAC2	Hypertrophic cardiomyopathy	HP:0001639
60528	ELAC2	Lactic acidosis	HP:0003128
60528	ELAC2	Generalized hypotonia	HP:0001290
60528	ELAC2	Microcephaly	HP:0000252
60528	ELAC2	Hearing impairment	HP:0000365
60528	ELAC2	Global developmental delay	HP:0001263
3242	HPD	Seizures	HP:0001250
3242	HPD	Muscular hypotonia	HP:0001252
3242	HPD	Failure to thrive	HP:0001508
3242	HPD	Abnormality of tyrosine metabolism	HP:0010917
3242	HPD	Fine hair	HP:0002213
3242	HPD	Sparse hair	HP:0008070
3242	HPD	Autosomal dominant inheritance	HP:0000006
3242	HPD	Autosomal recessive inheritance	HP:0000007
3242	HPD	Intellectual disability, mild	HP:0001256
3242	HPD	Abnormality of the liver	HP:0001392
3242	HPD	Hypothyroidism	HP:0000821
3242	HPD	Metabolic acidosis	HP:0001942
3242	HPD	4-Hydroxyphenylacetic aciduria	HP:0003607
3242	HPD	4-Hydroxyphenylpyruvic aciduria	HP:0003161
3242	HPD	Hypertyrosinemia	HP:0003231
3257	HPS1	Gingival bleeding	HP:0000225
3257	HPS1	Prolonged bleeding time	HP:0003010
3257	HPS1	Melanocytic nevus	HP:0000995
3257	HPS1	Epistaxis	HP:0000421
3257	HPS1	Cardiomyopathy	HP:0001638
3257	HPS1	Autosomal recessive inheritance	HP:0000007
3257	HPS1	Freckling	HP:0001480
3257	HPS1	Restrictive ventilatory defect	HP:0002091
3257	HPS1	Abdominal pain	HP:0002027
3257	HPS1	Hematochezia	HP:0002573
3257	HPS1	Heterogeneous	HP:0001425
3257	HPS1	Bruising susceptibility	HP:0000978
3257	HPS1	Freckles in sun-exposed areas	HP:0007603
3257	HPS1	Renal insufficiency	HP:0000083
3257	HPS1	Ocular albinism	HP:0001107
3257	HPS1	Severe visual impairment	HP:0001141
3257	HPS1	Inflammation of the large intestine	HP:0002037
3257	HPS1	Abnormality of the hair	HP:0001595
3257	HPS1	Albinism	HP:0001022
3257	HPS1	Pulmonary fibrosis	HP:0002206
3257	HPS1	Nystagmus	HP:0000639
3394	IRF8	Immunodeficiency	HP:0002721
3394	IRF8	Abnormality of immune system physiology	HP:0010978
3394	IRF8	Failure to thrive	HP:0001508
3394	IRF8	Autosomal dominant inheritance	HP:0000006
3394	IRF8	Autosomal recessive inheritance	HP:0000007
3394	IRF8	Fever	HP:0001945
3394	IRF8	Infantile onset	HP:0003593
3394	IRF8	Lymphadenopathy	HP:0002716
3394	IRF8	Recurrent infections	HP:0002719
3426	CFI	Recurrent Haemophilus influenzae infections	HP:0005376
3426	CFI	Recurrent meningitis	HP:0006946
3426	CFI	Glomerulonephritis	HP:0000099
3426	CFI	Recurrent sinusitis	HP:0011108
3426	CFI	Juvenile onset	HP:0003621
3426	CFI	Recurrent meningococcal disease	HP:0005381
3426	CFI	Autosomal recessive inheritance	HP:0000007
3426	CFI	Decreased serum complement factor B	HP:0005416
3426	CFI	Vasculitis	HP:0002633
3426	CFI	Recurrent urinary tract infections	HP:0000010
3426	CFI	Pyelonephritis	HP:0012330
3426	CFI	Decreased serum complement factor I	HP:0005356
3426	CFI	Decreased serum complement C3	HP:0005421
3426	CFI	Recurrent skin infections	HP:0001581
3426	CFI	Renal insufficiency	HP:0000083
3426	CFI	Recurrent otitis media	HP:0000403
3426	CFI	Recurrent streptococcus pneumoniae infections	HP:0005366
3426	CFI	Decreased serum complement factor H	HP:0005369
3426	CFI	Arthritis	HP:0001369
3460	IFNGR2	Immunodeficiency	HP:0002721
3460	IFNGR2	Autosomal recessive inheritance	HP:0000007
3460	IFNGR2	Recurrent mycobacterial infections	HP:0011274
3561	IL2RG	Hepatomegaly	HP:0002240
3561	IL2RG	Otitis media	HP:0000388
3561	IL2RG	Sepsis	HP:0100806
3561	IL2RG	Edema	HP:0000969
3561	IL2RG	Hypoplasia of the thymus	HP:0000778
3561	IL2RG	Chronic oral candidiasis	HP:0009098
3561	IL2RG	X-linked recessive inheritance	HP:0001419
3561	IL2RG	Combined immunodeficiency	HP:0005387
3561	IL2RG	Severe combined immunodeficiency	HP:0004430
3561	IL2RG	Autoimmunity	HP:0002960
3561	IL2RG	Splenomegaly	HP:0001744
3561	IL2RG	Agammaglobulinemia	HP:0004432
3561	IL2RG	Recurrent bronchitis	HP:0002837
3561	IL2RG	Eosinophilia	HP:0001880
3561	IL2RG	Fever	HP:0001945
3561	IL2RG	Recurrent fungal infections	HP:0002841
3561	IL2RG	IgG deficiency	HP:0004315
3561	IL2RG	Lymphadenopathy	HP:0002716
3561	IL2RG	Skin rash	HP:0000988
3561	IL2RG	Pruritus	HP:0000989
3561	IL2RG	Decreased proportion of CD4-positive T cells	HP:0005407
3561	IL2RG	Nephrotic syndrome	HP:0000100
3561	IL2RG	Failure to thrive	HP:0001508
3561	IL2RG	Decreased proportion of CD8-positive T cells	HP:0005415
3561	IL2RG	Short toe	HP:0001831
3561	IL2RG	Thyroiditis	HP:0100646
3561	IL2RG	Aplasia/Hypoplasia of the eyebrow	HP:0100840
3561	IL2RG	Lymphoma	HP:0002665
3561	IL2RG	Pneumonia	HP:0002090
3561	IL2RG	Recurrent bacterial meningitis	HP:0007274
3561	IL2RG	Chronic diarrhea	HP:0002028
3561	IL2RG	Abnormal lymphocyte morphology	HP:0004332
3561	IL2RG	Anemia	HP:0001903
3561	IL2RG	Thickened skin	HP:0001072
3561	IL2RG	Abnormality of the metaphysis	HP:0000944
3561	IL2RG	Hypothyroidism	HP:0000821
3561	IL2RG	Sinusitis	HP:0000246
3561	IL2RG	Erythroderma	HP:0001019
3561	IL2RG	Alopecia	HP:0001596
3561	IL2RG	Desquamation of skin soon after birth	HP:0007549
3561	IL2RG	Dry skin	HP:0000958
118429	ANTXR2	Feeding difficulties	HP:0011968
118429	ANTXR2	Macrocephaly	HP:0000256
118429	ANTXR2	Aplasia/Hypoplasia of the skin	HP:0008065
118429	ANTXR2	Urticaria	HP:0001025
118429	ANTXR2	Skeletal muscle atrophy	HP:0003202
118429	ANTXR2	Abnormality of the adrenal glands	HP:0000834
118429	ANTXR2	Brachydactyly	HP:0001156
118429	ANTXR2	Recurrent fractures	HP:0002757
118429	ANTXR2	Autosomal recessive inheritance	HP:0000007
118429	ANTXR2	Subcutaneous nodule	HP:0001482
118429	ANTXR2	Steatorrhea	HP:0002570
118429	ANTXR2	Camptodactyly of finger	HP:0100490
118429	ANTXR2	Abnormality of the gastrointestinal tract	HP:0011024
118429	ANTXR2	Abnormality of dental morphology	HP:0006482
118429	ANTXR2	Aplasia/Hypoplasia of the thymus	HP:0010515
118429	ANTXR2	Polycystic ovaries	HP:0000147
118429	ANTXR2	Gingival overgrowth	HP:0000212
118429	ANTXR2	Short neck	HP:0000470
118429	ANTXR2	Coarse facial features	HP:0000280
118429	ANTXR2	Progressive	HP:0003676
118429	ANTXR2	Diarrhea	HP:0002014
118429	ANTXR2	Recurrent bacterial infections	HP:0002718
118429	ANTXR2	Recurrent infections	HP:0002719
118429	ANTXR2	Abnormality of the skull	HP:0000929
118429	ANTXR2	Papule	HP:0200034
118429	ANTXR2	Immunodeficiency	HP:0002721
118429	ANTXR2	Failure to thrive	HP:0001508
118429	ANTXR2	Muscular hypotonia	HP:0001252
118429	ANTXR2	Micromelia	HP:0002983
118429	ANTXR2	Telangiectasia of the skin	HP:0100585
118429	ANTXR2	Gingival fibromatosis	HP:0000169
118429	ANTXR2	Skin ulcer	HP:0200042
118429	ANTXR2	Osteopenia	HP:0000938
118429	ANTXR2	Osteoporosis	HP:0000939
118429	ANTXR2	Joint stiffness	HP:0001387
118429	ANTXR2	Abnormal diaphysis morphology	HP:0000940
118429	ANTXR2	Lymphedema	HP:0001004
118429	ANTXR2	Chronic diarrhea	HP:0002028
118429	ANTXR2	Osteolysis	HP:0002797
118429	ANTXR2	Thickened skin	HP:0001072
118429	ANTXR2	Death in infancy	HP:0001522
118429	ANTXR2	Progressive flexion contractures	HP:0005876
118429	ANTXR2	Variable expressivity	HP:0003828
118429	ANTXR2	Severe short stature	HP:0003510
118429	ANTXR2	Short palm	HP:0004279
118429	ANTXR2	Hyperpigmentation of the skin	HP:0000953
118429	ANTXR2	Abnormality of the hair	HP:0001595
118429	ANTXR2	Osteomalacia	HP:0002749
3798	KIF5A	Feeding difficulties	HP:0011968
3798	KIF5A	Athetosis	HP:0002305
3798	KIF5A	Hyperreflexia	HP:0001347
3798	KIF5A	Progressive leukoencephalopathy	HP:0006980
3798	KIF5A	Autosomal dominant inheritance	HP:0000006
3798	KIF5A	Generalized hypotonia	HP:0001290
3798	KIF5A	Urinary urgency	HP:0000012
3798	KIF5A	Spastic gait	HP:0002064
3798	KIF5A	Urinary incontinence	HP:0000020
3798	KIF5A	Parkinsonism	HP:0001300
3798	KIF5A	Urinary bladder sphincter dysfunction	HP:0002839
3798	KIF5A	Chorea	HP:0002072
3798	KIF5A	Scoliosis	HP:0002650
3798	KIF5A	Progressive	HP:0003676
3798	KIF5A	Dysphagia	HP:0002015
3798	KIF5A	Babinski sign	HP:0003487
3798	KIF5A	Delayed myelination	HP:0012448
3798	KIF5A	Cortical visual impairment	HP:0100704
3798	KIF5A	Pes cavus	HP:0001761
3798	KIF5A	Ataxia	HP:0001251
3798	KIF5A	Phenotypic variability	HP:0003812
3798	KIF5A	Spastic paraplegia	HP:0001258
3798	KIF5A	Lower limb muscle weakness	HP:0007340
3798	KIF5A	Developmental stagnation	HP:0007281
3798	KIF5A	Impaired vibration sensation in the lower limbs	HP:0002166
3798	KIF5A	Ankle clonus	HP:0011448
3798	KIF5A	Distal sensory impairment	HP:0002936
3798	KIF5A	Congenital onset	HP:0003577
3798	KIF5A	Knee clonus	HP:0011449
3798	KIF5A	Ptosis	HP:0000508
3798	KIF5A	Microcephaly	HP:0000252
3798	KIF5A	Nystagmus	HP:0000639
3908	LAMA2	Abnormality of the temporomandibular joint	HP:0010754
3908	LAMA2	Facial palsy	HP:0010628
3908	LAMA2	Areflexia	HP:0001284
3908	LAMA2	Cerebral edema	HP:0002181
3908	LAMA2	Myositis	HP:0100614
3908	LAMA2	Autosomal recessive inheritance	HP:0000007
3908	LAMA2	Abnormality of visual evoked potentials	HP:0000649
3908	LAMA2	Myopathic facies	HP:0002058
3908	LAMA2	Generalized hypotonia	HP:0001290
3908	LAMA2	Intercostal muscle weakness	HP:0004878
3908	LAMA2	Astrocytosis	HP:0002446
3908	LAMA2	Atelectasis	HP:0100750
3908	LAMA2	Aspiration	HP:0002835
3908	LAMA2	Pachygyria	HP:0001302
3908	LAMA2	Highly elevated creatine phosphokinase	HP:0030234
3908	LAMA2	Arrhythmia	HP:0011675
3908	LAMA2	Congenital muscular dystrophy	HP:0003741
3908	LAMA2	Macroglossia	HP:0000158
3908	LAMA2	Elevated serum creatine phosphokinase	HP:0003236
3908	LAMA2	Neonatal hypotonia	HP:0001319
3908	LAMA2	Feeding difficulties in infancy	HP:0008872
3908	LAMA2	Pulmonary arterial hypertension	HP:0002092
3908	LAMA2	Protruding tongue	HP:0010808
3908	LAMA2	Lissencephaly	HP:0001339
3908	LAMA2	Respiratory insufficiency due to muscle weakness	HP:0002747
3908	LAMA2	Cognitive impairment	HP:0100543
3908	LAMA2	Respiratory failure	HP:0002878
3908	LAMA2	Focal seizures	HP:0007359
3908	LAMA2	Hypointensity of cerebral white matter on MRI	HP:0007103
3908	LAMA2	Kyphoscoliosis	HP:0002751
3908	LAMA2	Increased connective tissue	HP:0009025
3908	LAMA2	Open mouth	HP:0000194
3908	LAMA2	Muscle fiber atrophy	HP:0100295
3908	LAMA2	Hypokinesia	HP:0002375
3908	LAMA2	Absence seizures	HP:0002121
3908	LAMA2	Abnormal brainstem MRI signal intensity	HP:0012747
3908	LAMA2	Weak cry	HP:0001612
3908	LAMA2	Scoliosis	HP:0002650
3908	LAMA2	Ophthalmoplegia	HP:0000602
3908	LAMA2	Flexion contracture	HP:0001371
3908	LAMA2	Recurrent lower respiratory tract infections	HP:0002783
3908	LAMA2	Pontocerebellar atrophy	HP:0006879
3908	LAMA2	Chewing difficulties	HP:0005216
3908	LAMA2	Intellectual disability	HP:0001249
3908	LAMA2	Seizures	HP:0001250
3908	LAMA2	Gastroesophageal reflux	HP:0002020
3908	LAMA2	Sensorimotor neuropathy	HP:0007141
3908	LAMA2	Decreased body weight	HP:0004325
3908	LAMA2	Cardiomyopathy	HP:0001638
3908	LAMA2	Hypoventilation	HP:0002791
3908	LAMA2	Abnormal cortical gyration	HP:0002536
3908	LAMA2	Muscular dystrophy	HP:0003560
3908	LAMA2	Hyperlordosis	HP:0003307
3908	LAMA2	Inability to walk	HP:0002540
3908	LAMA2	Motor delay	HP:0001270
3908	LAMA2	Reduced ejection fraction	HP:0012664
3908	LAMA2	Congenital onset	HP:0003577
126792	B3GALT6	Macrocephaly	HP:0000256
126792	B3GALT6	Short femoral neck	HP:0100864
126792	B3GALT6	Short iliac bones	HP:0100866
126792	B3GALT6	Soft, doughy skin	HP:0001027
126792	B3GALT6	Fragile skin	HP:0001030
126792	B3GALT6	Autosomal recessive inheritance	HP:0000007
126792	B3GALT6	Short nail	HP:0001799
126792	B3GALT6	Proptosis	HP:0000520
126792	B3GALT6	Generalized hypotonia	HP:0001290
126792	B3GALT6	Hip dislocation	HP:0002827
126792	B3GALT6	Dislocated radial head	HP:0003083
126792	B3GALT6	Long toe	HP:0010511
126792	B3GALT6	Malar flattening	HP:0000272
126792	B3GALT6	Sparse and thin eyebrow	HP:0000535
126792	B3GALT6	Midface retrusion	HP:0011800
126792	B3GALT6	Slender long bone	HP:0003100
126792	B3GALT6	Cryptorchidism	HP:0000028
126792	B3GALT6	Hallux valgus	HP:0001822
126792	B3GALT6	Epicanthus	HP:0000286
126792	B3GALT6	Myopia	HP:0000545
126792	B3GALT6	Genu valgum	HP:0002857
126792	B3GALT6	Abnormality of epiphysis morphology	HP:0005930
126792	B3GALT6	Oval face	HP:0000300
126792	B3GALT6	Palmoplantar cutis gyrata	HP:0007469
126792	B3GALT6	Metatarsus adductus	HP:0001840
126792	B3GALT6	Atrophic scars	HP:0001075
126792	B3GALT6	Flared iliac wings	HP:0002869
126792	B3GALT6	Paraplegia	HP:0010550
126792	B3GALT6	Ectopia lentis	HP:0001083
126792	B3GALT6	Joint hyperflexibility	HP:0005692
126792	B3GALT6	Short metacarpal	HP:0010049
126792	B3GALT6	Abnormal bone ossification	HP:0011849
126792	B3GALT6	Congenital myopia	HP:0008012
126792	B3GALT6	Long upper lip	HP:0011341
126792	B3GALT6	Blue sclerae	HP:0000592
126792	B3GALT6	Flat face	HP:0012368
126792	B3GALT6	Abnormality of primary teeth	HP:0006481
126792	B3GALT6	Long philtrum	HP:0000343
126792	B3GALT6	Scoliosis	HP:0002650
126792	B3GALT6	Spondyloepimetaphyseal dysplasia	HP:0002651
126792	B3GALT6	Micrognathia	HP:0000347
126792	B3GALT6	Flexion contracture	HP:0001371
126792	B3GALT6	Hip subluxation	HP:0030043
126792	B3GALT6	Skeletal dysplasia	HP:0002652
126792	B3GALT6	Ventricular septal defect	HP:0001629
126792	B3GALT6	Atrial septal defect	HP:0001631
126792	B3GALT6	Pulmonic stenosis	HP:0001642
126792	B3GALT6	Broad distal phalanx of finger	HP:0009836
126792	B3GALT6	Joint laxity	HP:0001388
126792	B3GALT6	11 pairs of ribs	HP:0000878
126792	B3GALT6	Bicuspid aortic valve	HP:0001647
126792	B3GALT6	Coxa valga	HP:0002673
126792	B3GALT6	Large iliac wings	HP:0008818
126792	B3GALT6	Aortic valve stenosis	HP:0001650
126792	B3GALT6	Mitral regurgitation	HP:0001653
126792	B3GALT6	Cupped ribs	HP:0000887
126792	B3GALT6	Hypoplastic iliac body	HP:0008824
126792	B3GALT6	Delayed proximal femoral epiphyseal ossification	HP:0008828
126792	B3GALT6	Spinal cord compression	HP:0002176
126792	B3GALT6	Skeletal muscle atrophy	HP:0003202
126792	B3GALT6	Sparse hair	HP:0008070
126792	B3GALT6	Abnormal cardiac septum morphology	HP:0001671
126792	B3GALT6	Flaring of rib cage	HP:0000904
126792	B3GALT6	Advanced ossification of carpal bones	HP:0004233
126792	B3GALT6	Sparse eyelashes	HP:0000653
126792	B3GALT6	Arachnodactyly	HP:0001166
126792	B3GALT6	Platyspondyly	HP:0000926
126792	B3GALT6	Narrow mouth	HP:0000160
126792	B3GALT6	Sparse scalp hair	HP:0002209
126792	B3GALT6	Lipodystrophy	HP:0009125
126792	B3GALT6	Micromelia	HP:0002983
126792	B3GALT6	Exostoses	HP:0100777
126792	B3GALT6	Radial bowing	HP:0002986
126792	B3GALT6	Osteopenia	HP:0000938
126792	B3GALT6	Osteoporosis	HP:0000939
126792	B3GALT6	Cleft palate	HP:0000175
126792	B3GALT6	Wide nasal bridge	HP:0000431
126792	B3GALT6	Abnormality of the metaphysis	HP:0000944
126792	B3GALT6	Severe short stature	HP:0003510
126792	B3GALT6	Short palm	HP:0004279
126792	B3GALT6	Kyphoscoliosis	HP:0002751
126792	B3GALT6	Thin skin	HP:0000963
126792	B3GALT6	Pathologic fracture	HP:0002756
126792	B3GALT6	Flared metaphysis	HP:0003015
126792	B3GALT6	Aganglionic megacolon	HP:0002251
126792	B3GALT6	Testicular torsion	HP:0100813
126792	B3GALT6	Cutis laxa	HP:0000973
126792	B3GALT6	Hyperextensible skin	HP:0000974
126792	B3GALT6	Abnormal facial shape	HP:0001999
126792	B3GALT6	Progeroid facial appearance	HP:0005328
126792	B3GALT6	Short long bone	HP:0003026
126792	B3GALT6	Prominent forehead	HP:0011220
126792	B3GALT6	Short neck	HP:0000470
126792	B3GALT6	High palate	HP:0000218
126792	B3GALT6	Intellectual disability	HP:0001249
126792	B3GALT6	Talipes equinovarus	HP:0001762
126792	B3GALT6	Short stature	HP:0004322
126792	B3GALT6	Elbow dislocation	HP:0003042
126792	B3GALT6	Pes planus	HP:0001763
126792	B3GALT6	Ovoid vertebral bodies	HP:0003300
126792	B3GALT6	Muscular hypotonia	HP:0001252
126792	B3GALT6	Decreased body weight	HP:0004325
126792	B3GALT6	Irregular vertebral endplates	HP:0003301
126792	B3GALT6	Carpal synostosis	HP:0009702
126792	B3GALT6	Gingivitis	HP:0000230
126792	B3GALT6	Radial head subluxation	HP:0003048
126792	B3GALT6	Abnormality of skin pigmentation	HP:0001000
126792	B3GALT6	Hyperlordosis	HP:0003307
126792	B3GALT6	Short foot	HP:0001773
126792	B3GALT6	Global developmental delay	HP:0001263
126792	B3GALT6	Kyphosis	HP:0002808
126792	B3GALT6	Telecanthus	HP:0000506
126792	B3GALT6	Pectus excavatum	HP:0000767
3949	LDLR	Renal artery stenosis	HP:0001920
3949	LDLR	Precocious atherosclerosis	HP:0004416
3949	LDLR	Heart murmur	HP:0030148
3949	LDLR	Increased circulating low-density lipoprotein levels	HP:0003141
3949	LDLR	Hyperlipidemia	HP:0003077
3949	LDLR	Autosomal dominant inheritance	HP:0000006
3949	LDLR	Arthralgia	HP:0002829
3949	LDLR	Angina pectoris	HP:0001681
3949	LDLR	Abnormal internal carotid artery morphology	HP:3000062
3949	LDLR	Abnormal eye physiology	HP:0012373
3949	LDLR	Peripheral arterial stenosis	HP:0004950
3949	LDLR	Xanthelasma	HP:0001114
3949	LDLR	Supravalvular aortic stenosis	HP:0004381
3949	LDLR	Abnormality of nervous system physiology	HP:0012638
3949	LDLR	Renal steatosis	HP:0000799
3949	LDLR	Cerebral artery atherosclerosis	HP:0007201
3949	LDLR	Coronary artery aneurysm	HP:0030882
3949	LDLR	Calcification of the aorta	HP:0004963
3949	LDLR	Myocardial steatosis	HP:0006693
3949	LDLR	Left ventricular failure	HP:0005162
3949	LDLR	Sudden cardiac death	HP:0001645
3949	LDLR	Aortic atherosclerosis	HP:0012397
3949	LDLR	Dyspnea	HP:0002094
3949	LDLR	Optic neuropathy	HP:0001138
3949	LDLR	Hypercholesterolemia	HP:0003124
3949	LDLR	Hepatic steatosis	HP:0001397
3949	LDLR	Mitral regurgitation	HP:0001653
3949	LDLR	Hypertension	HP:0000822
3949	LDLR	Premature arteriosclerosis	HP:0005177
3949	LDLR	Tendon xanthomatosis	HP:0010874
3949	LDLR	Myocardial infarction	HP:0001658
3949	LDLR	Corneal arcus	HP:0001084
3949	LDLR	Premature coronary artery atherosclerosis	HP:0005181
4023	LPL	Increased circulating very-low-density lipoprotein levels	HP:0003362
4023	LPL	Nausea	HP:0002018
4023	LPL	Increased circulating low-density lipoprotein levels	HP:0003141
4023	LPL	Pancreatitis	HP:0001733
4023	LPL	Autosomal dominant inheritance	HP:0000006
4023	LPL	Autosomal recessive inheritance	HP:0000007
4023	LPL	Episodic abdominal pain	HP:0002574
4023	LPL	Increased circulating chylomicron levels	HP:0012238
4023	LPL	Splenomegaly	HP:0001744
4023	LPL	Lipemia retinalis	HP:0000660
4023	LPL	Lactescent serum	HP:0031028
4023	LPL	Hypercholesterolemia	HP:0003124
4023	LPL	Eruptive xanthomas	HP:0001013
4023	LPL	Jaundice	HP:0000952
4023	LPL	Hepatosplenomegaly	HP:0001433
4023	LPL	Myocardial infarction	HP:0001658
4023	LPL	Xanthelasma	HP:0001114
4023	LPL	Vomiting	HP:0002013
4047	LSS	Autosomal recessive inheritance	HP:0000007
4047	LSS	Congenital cataract	HP:0000519
4047	LSS	Visual loss	HP:0000572
4091	SMAD6	Thoracic aorta calcification	HP:0004962
4091	SMAD6	Calcification of the aorta	HP:0004963
4091	SMAD6	Heart murmur	HP:0030148
4091	SMAD6	Ascending aortic dissection	HP:0004933
4091	SMAD6	Autosomal dominant inheritance	HP:0000006
4091	SMAD6	Bicuspid aortic valve	HP:0001647
4091	SMAD6	Coarctation of aorta	HP:0001680
4091	SMAD6	Aortic valve stenosis	HP:0001650
4091	SMAD6	Hypertension	HP:0000822
4091	SMAD6	Aortic arch aneurysm	HP:0005113
4091	SMAD6	Aortic regurgitation	HP:0001659
4091	SMAD6	Aortic valve calcification	HP:0004380
4091	SMAD6	Abnormality of the left ventricular outflow tract	HP:0011103
4091	SMAD6	Hypoplastic left heart	HP:0004383
4261	CIITA	Protracted diarrhea	HP:0004385
4261	CIITA	Chronic lymphocytic meningitis	HP:0007041
4261	CIITA	Viral hepatitis	HP:0006562
4261	CIITA	Panhypogammaglobulinemia	HP:0003139
4261	CIITA	Failure to thrive	HP:0001508
4261	CIITA	Recurrent upper respiratory tract infections	HP:0002788
4261	CIITA	Autosomal dominant inheritance	HP:0000006
4261	CIITA	Autosomal recessive inheritance	HP:0000007
4261	CIITA	Malabsorption	HP:0002024
4261	CIITA	Chronic mucocutaneous candidiasis	HP:0002728
4261	CIITA	Recurrent urinary tract infections	HP:0000010
4261	CIITA	Recurrent protozoan infections	HP:0005386
4261	CIITA	Recurrent viral infections	HP:0004429
4261	CIITA	Encephalitis	HP:0002383
4261	CIITA	Agammaglobulinemia	HP:0004432
4261	CIITA	Villous atrophy	HP:0011473
4261	CIITA	Neutropenia	HP:0001875
4261	CIITA	Cutaneous anergy	HP:0002965
4261	CIITA	Colitis	HP:0002583
4261	CIITA	Biliary tract abnormality	HP:0001080
4261	CIITA	Recurrent fungal infections	HP:0002841
4261	CIITA	Recurrent bacterial infections	HP:0002718
4261	CIITA	Recurrent lower respiratory tract infections	HP:0002783
4361	MRE11	Gaze-evoked nystagmus	HP:0000640
4361	MRE11	Primary peritoneal carcinoma	HP:0030406
4361	MRE11	Ovarian neoplasm	HP:0100615
4361	MRE11	Autosomal recessive inheritance	HP:0000007
4361	MRE11	Lower limb spasticity	HP:0002061
4361	MRE11	Neoplasm of the pancreas	HP:0002894
4361	MRE11	Oculomotor apraxia	HP:0000657
4361	MRE11	Gait ataxia	HP:0002066
4361	MRE11	Abnormality of the fallopian tube	HP:0011027
4361	MRE11	Chorea	HP:0002072
4361	MRE11	Dysdiadochokinesis	HP:0002075
4361	MRE11	Progressive	HP:0003676
4361	MRE11	Impaired smooth pursuit	HP:0007772
4361	MRE11	Prostate cancer	HP:0012125
4361	MRE11	Dysarthria	HP:0001260
4361	MRE11	Distal amyotrophy	HP:0003693
4361	MRE11	Melanoma	HP:0002861
4361	MRE11	Telangiectasia	HP:0001009
4361	MRE11	Hyporeflexia	HP:0001265
4361	MRE11	Dystonia	HP:0001332
4361	MRE11	Variable expressivity	HP:0003828
4361	MRE11	Frequent falls	HP:0002359
4361	MRE11	Cerebellar atrophy	HP:0001272
4361	MRE11	Breast carcinoma	HP:0003002
4361	MRE11	Hypometric saccades	HP:0000571
53630	BCO1	Autosomal dominant inheritance	HP:0000006
53630	BCO1	Abnormality of the skin	HP:0000951
53630	BCO1	Vitamin A deficiency	HP:0004905
4488	MSX2	Macrocephaly	HP:0000256
4488	MSX2	Brachydactyly	HP:0001156
4488	MSX2	Autosomal dominant inheritance	HP:0000006
4488	MSX2	Symmetrical, oval parietal bone defects	HP:0002695
4488	MSX2	Parietal foramina	HP:0002697
4488	MSX2	Headache	HP:0002315
4488	MSX2	Widely patent fontanelles and sutures	HP:0004492
4488	MSX2	Cleft upper lip	HP:0000204
4488	MSX2	Heterogeneous	HP:0001425
4488	MSX2	Frontal bossing	HP:0002007
4488	MSX2	Aplasia cutis congenita of scalp	HP:0007385
4488	MSX2	Hypotelorism	HP:0000601
4488	MSX2	Hypermetropia	HP:0000540
4488	MSX2	Dermoid cyst	HP:0025247
4488	MSX2	Myopia	HP:0000545
4488	MSX2	Seizures	HP:0001250
4488	MSX2	Visual field defect	HP:0001123
4488	MSX2	Encephalocele	HP:0002084
4488	MSX2	Microtia	HP:0008551
4488	MSX2	Cleft palate	HP:0000175
4488	MSX2	Triphalangeal thumb	HP:0001199
4488	MSX2	Trigonocephaly	HP:0000243
4488	MSX2	Unicoronal synostosis	HP:0011315
4488	MSX2	Brachyturricephaly	HP:0000244
4488	MSX2	Bicoronal synostosis	HP:0011318
4488	MSX2	Cleft soft palate	HP:0000185
4488	MSX2	Increased number of teeth	HP:0011069
4488	MSX2	Short clavicles	HP:0000894
29071	C1GALT1C1	Autoimmunity	HP:0002960
29071	C1GALT1C1	Abnormal erythrocyte morphology	HP:0001877
4594	MUT	Hepatomegaly	HP:0002240
4594	MUT	Feeding difficulties	HP:0011968
4594	MUT	Hyperammonemia	HP:0001987
4594	MUT	Pancreatitis	HP:0001733
4594	MUT	Autosomal recessive inheritance	HP:0000007
4594	MUT	Sepsis	HP:0100806
4594	MUT	Optic atrophy	HP:0000648
4594	MUT	Generalized hypotonia	HP:0001290
4594	MUT	Delayed CNS myelination	HP:0002188
4594	MUT	Splenomegaly	HP:0001744
4594	MUT	Thrombocytopenia	HP:0001873
4594	MUT	Stroke	HP:0001297
4594	MUT	Neutropenia	HP:0001875
4594	MUT	Renal insufficiency	HP:0000083
4594	MUT	Abnormal globus pallidus morphology	HP:0002453
4594	MUT	Hemiplegia/hemiparesis	HP:0004374
4594	MUT	Methylmalonic aciduria	HP:0012120
4594	MUT	Dehydration	HP:0001944
4594	MUT	Leukopenia	HP:0001882
4594	MUT	Metabolic ketoacidosis	HP:0005979
4594	MUT	Vomiting	HP:0002013
4594	MUT	Methylmalonic acidemia	HP:0002912
4594	MUT	Nausea and vomiting	HP:0002017
4594	MUT	Intellectual disability	HP:0001249
4594	MUT	Immunodeficiency	HP:0002721
4594	MUT	Seizures	HP:0001250
4594	MUT	Failure to thrive	HP:0001508
4594	MUT	Muscular hypotonia	HP:0001252
4594	MUT	Lethargy	HP:0001254
4594	MUT	Cardiomyopathy	HP:0001638
4594	MUT	Growth delay	HP:0001510
4594	MUT	Hyperglycinemia	HP:0002154
4594	MUT	Coma	HP:0001259
4594	MUT	Abdominal pain	HP:0002027
4594	MUT	Dysarthria	HP:0001260
4594	MUT	Cerebellar hemorrhage	HP:0011695
4594	MUT	Global developmental delay	HP:0001263
4594	MUT	Anemia	HP:0001903
4594	MUT	Tubulointerstitial nephritis	HP:0001970
4594	MUT	Choreoathetosis	HP:0001266
4594	MUT	Respiratory distress	HP:0002098
4594	MUT	Dystonia	HP:0001332
4594	MUT	Anorexia	HP:0002039
4594	MUT	Renal tubular dysfunction	HP:0000124
4594	MUT	Stage 5 chronic kidney disease	HP:0003774
4607	MYBPC3	EMG abnormality	HP:0003457
4607	MYBPC3	Abnormality of neutrophils	HP:0001874
4607	MYBPC3	Lipoatrophy	HP:0100578
4607	MYBPC3	Elevated serum creatine phosphokinase	HP:0003236
4607	MYBPC3	Autosomal dominant inheritance	HP:0000006
4607	MYBPC3	Palmoplantar keratoderma	HP:0000982
4607	MYBPC3	Hypertrophic cardiomyopathy	HP:0001639
4607	MYBPC3	Sensorineural hearing impairment	HP:0000407
4607	MYBPC3	Left ventricular noncompaction	HP:0030682
4607	MYBPC3	Dilated cardiomyopathy	HP:0001644
4607	MYBPC3	Myopathy	HP:0003198
4645	MYO5B	Protracted diarrhea	HP:0004385
4645	MYO5B	Hypovolemia	HP:0011106
4645	MYO5B	Growth delay	HP:0001510
4645	MYO5B	Abdominal distention	HP:0003270
4645	MYO5B	Autosomal recessive inheritance	HP:0000007
4645	MYO5B	Malnutrition	HP:0004395
4645	MYO5B	Global developmental delay	HP:0001263
4645	MYO5B	Villous atrophy	HP:0011473
4645	MYO5B	Death in infancy	HP:0001522
4645	MYO5B	Abnormal renal physiology	HP:0012211
4645	MYO5B	Metabolic acidosis	HP:0001942
4645	MYO5B	Dehydration	HP:0001944
4645	MYO5B	Nephrocalcinosis	HP:0000121
4645	MYO5B	Pruritus	HP:0000989
4645	MYO5B	Diarrhea	HP:0002014
4646	MYO6	Autosomal dominant inheritance	HP:0000006
4646	MYO6	Vestibular dysfunction	HP:0001751
4646	MYO6	Autosomal recessive inheritance	HP:0000007
4646	MYO6	Progressive sensorineural hearing impairment	HP:0000408
4646	MYO6	Congenital stationary night blindness	HP:0007642
4646	MYO6	Bilateral sensorineural hearing impairment	HP:0008619
4646	MYO6	Rod-cone dystrophy	HP:0000510
152137	CCDC50	Autosomal dominant inheritance	HP:0000006
152137	CCDC50	Sensorineural hearing impairment	HP:0000407
4729	NDUFV2	Progressive macrocephaly	HP:0004481
4729	NDUFV2	Skeletal muscle atrophy	HP:0003202
4729	NDUFV2	Hyperreflexia	HP:0001347
4729	NDUFV2	Cerebral edema	HP:0002181
4729	NDUFV2	Autosomal recessive inheritance	HP:0000007
4729	NDUFV2	Developmental regression	HP:0002376
4729	NDUFV2	Generalized hypotonia	HP:0001290
4729	NDUFV2	X-linked dominant inheritance	HP:0001423
4729	NDUFV2	Mitochondrial inheritance	HP:0001427
4729	NDUFV2	Sensorineural hearing impairment	HP:0000407
4729	NDUFV2	Hypoglycemia	HP:0001943
4729	NDUFV2	Exercise intolerance	HP:0003546
4729	NDUFV2	Vomiting	HP:0002013
4729	NDUFV2	Optic disc pallor	HP:0000543
4729	NDUFV2	Babinski sign	HP:0003487
4729	NDUFV2	Seizures	HP:0001250
4729	NDUFV2	Ataxia	HP:0001251
4729	NDUFV2	Phenotypic variability	HP:0003812
4729	NDUFV2	Failure to thrive	HP:0001508
4729	NDUFV2	Growth delay	HP:0001510
4729	NDUFV2	Strabismus	HP:0000486
4729	NDUFV2	Lethargy	HP:0001254
4729	NDUFV2	Hypertrophic cardiomyopathy	HP:0001639
4729	NDUFV2	Feeding difficulties in infancy	HP:0008872
4729	NDUFV2	Spasticity	HP:0001257
4729	NDUFV2	Blindness	HP:0000618
4729	NDUFV2	Coma	HP:0001259
4729	NDUFV2	Muscle weakness	HP:0001324
4729	NDUFV2	Global developmental delay	HP:0001263
4729	NDUFV2	Leukodystrophy	HP:0002415
4729	NDUFV2	Hyporeflexia	HP:0001265
4729	NDUFV2	Acute necrotizing encephalopathy	HP:0006965
4729	NDUFV2	Hepatic failure	HP:0001399
4729	NDUFV2	Cerebellar atrophy	HP:0001272
4729	NDUFV2	Lactic acidosis	HP:0003128
4729	NDUFV2	Increased CSF lactate	HP:0002490
4729	NDUFV2	Abnormal mitochondria in muscle tissue	HP:0008316
4729	NDUFV2	Ptosis	HP:0000508
4729	NDUFV2	Respiratory failure	HP:0002878
4729	NDUFV2	Nystagmus	HP:0000639
4842	NOS1	Achalasia	HP:0002571
283489	CHAMP1	Feeding difficulties	HP:0011968
283489	CHAMP1	Short philtrum	HP:0000322
283489	CHAMP1	Open mouth	HP:0000194
283489	CHAMP1	Autosomal dominant inheritance	HP:0000006
283489	CHAMP1	Upslanted palpebral fissure	HP:0000582
283489	CHAMP1	Generalized hypotonia	HP:0001290
283489	CHAMP1	Gait ataxia	HP:0002066
283489	CHAMP1	Long face	HP:0000276
283489	CHAMP1	High palate	HP:0000218
283489	CHAMP1	Hypermetropia	HP:0000540
283489	CHAMP1	Stereotypy	HP:0000733
283489	CHAMP1	Recurrent respiratory infections	HP:0002205
283489	CHAMP1	Epicanthus	HP:0000286
283489	CHAMP1	Impaired pain sensation	HP:0007328
283489	CHAMP1	Intellectual disability	HP:0001249
283489	CHAMP1	Gastroesophageal reflux	HP:0002020
283489	CHAMP1	Joint hypermobility	HP:0001382
283489	CHAMP1	Strabismus	HP:0000486
283489	CHAMP1	Everted lower lip vermilion	HP:0000232
283489	CHAMP1	Facial hypotonia	HP:0000297
283489	CHAMP1	Global developmental delay	HP:0001263
283489	CHAMP1	Low-set ears	HP:0000369
283489	CHAMP1	Pointed chin	HP:0000307
283489	CHAMP1	Tented upper lip vermilion	HP:0010804
283489	CHAMP1	Congenital onset	HP:0003577
283489	CHAMP1	Microcephaly	HP:0000252
5119	CHMP1A	Absent speech	HP:0001344
5119	CHMP1A	Hyperreflexia	HP:0001347
5119	CHMP1A	Autosomal recessive inheritance	HP:0000007
5119	CHMP1A	Generalized hypotonia	HP:0001290
5119	CHMP1A	Talipes valgus	HP:0004684
5119	CHMP1A	Chorea	HP:0002072
5119	CHMP1A	Hypermetropia	HP:0000540
5119	CHMP1A	Dysphagia	HP:0002015
5119	CHMP1A	Hypoplasia of the corpus callosum	HP:0002079
5119	CHMP1A	Myopia	HP:0000545
5119	CHMP1A	Poor speech	HP:0002465
5119	CHMP1A	Intellectual disability	HP:0001249
5119	CHMP1A	Cortical visual impairment	HP:0100704
5119	CHMP1A	Pes cavus	HP:0001761
5119	CHMP1A	Talipes equinovarus	HP:0001762
5119	CHMP1A	Astigmatism	HP:0000483
5119	CHMP1A	Gastroesophageal reflux	HP:0002020
5119	CHMP1A	Hypertrichosis	HP:0000998
5119	CHMP1A	Muscular hypotonia of the trunk	HP:0008936
5119	CHMP1A	Spasticity	HP:0001257
5119	CHMP1A	Cerebellar hypoplasia	HP:0001321
5119	CHMP1A	Postnatal microcephaly	HP:0005484
5119	CHMP1A	Global developmental delay	HP:0001263
5119	CHMP1A	Arthrogryposis multiplex congenita	HP:0002804
5119	CHMP1A	Esotropia	HP:0000565
5119	CHMP1A	Congenital onset	HP:0003577
5119	CHMP1A	Hypoplasia of the brainstem	HP:0002365
5119	CHMP1A	Nystagmus	HP:0000639
5130	PCYT1A	Abnormal electroretinogram	HP:0000512
5130	PCYT1A	Abnormality of the ribs	HP:0000772
5130	PCYT1A	Brachydactyly	HP:0001156
5130	PCYT1A	Cataract	HP:0000518
5130	PCYT1A	Autosomal recessive inheritance	HP:0000007
5130	PCYT1A	Progressive visual loss	HP:0000529
5130	PCYT1A	Recurrent otitis media	HP:0000403
5130	PCYT1A	Nyctalopia	HP:0000662
5130	PCYT1A	Hemiplegia/hemiparesis	HP:0004374
5130	PCYT1A	Abnormality of retinal pigmentation	HP:0007703
5130	PCYT1A	Platyspondyly	HP:0000926
5130	PCYT1A	Myopia	HP:0000545
5130	PCYT1A	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
5130	PCYT1A	Cone/cone-rod dystrophy	HP:0000548
5130	PCYT1A	Femoral bowing	HP:0002980
5130	PCYT1A	Encephalocele	HP:0002084
5130	PCYT1A	Short finger	HP:0009381
5130	PCYT1A	Tibial bowing	HP:0002982
5130	PCYT1A	Abnormality of color vision	HP:0000551
5130	PCYT1A	Narrow greater sacrosciatic notches	HP:0003375
5130	PCYT1A	Dental malocclusion	HP:0000689
5130	PCYT1A	Iris hypopigmentation	HP:0007730
5130	PCYT1A	High hypermetropia	HP:0008499
5130	PCYT1A	Keratoconus	HP:0000563
5130	PCYT1A	Limited elbow movement	HP:0002996
5130	PCYT1A	Severe short stature	HP:0003510
5130	PCYT1A	Short palm	HP:0004279
5130	PCYT1A	Peripheral visual field loss	HP:0007994
5130	PCYT1A	Visual loss	HP:0000572
5130	PCYT1A	Short metacarpal	HP:0010049
5130	PCYT1A	Postnatal growth retardation	HP:0008897
5130	PCYT1A	Abnormality of macular pigmentation	HP:0008002
5130	PCYT1A	Metaphyseal widening	HP:0003016
5130	PCYT1A	Rhizomelia	HP:0008905
5130	PCYT1A	Metaphyseal cupping	HP:0003021
5130	PCYT1A	Metaphyseal irregularity	HP:0003025
5130	PCYT1A	Severe platyspondyly	HP:0004565
5130	PCYT1A	Bowing of the long bones	HP:0006487
5130	PCYT1A	Scoliosis	HP:0002650
5130	PCYT1A	Abnormality of neuronal migration	HP:0002269
5130	PCYT1A	Spondylometaphyseal dysplasia	HP:0002657
5130	PCYT1A	Intellectual disability	HP:0001249
5130	PCYT1A	Seizures	HP:0001250
5130	PCYT1A	Astigmatism	HP:0000483
5130	PCYT1A	Ovoid vertebral bodies	HP:0003300
5130	PCYT1A	Muscular hypotonia	HP:0001252
5130	PCYT1A	Photophobia	HP:0000613
5130	PCYT1A	Large central visual field defect	HP:0001129
5130	PCYT1A	Hyperlordosis	HP:0003307
5130	PCYT1A	Joint stiffness	HP:0001387
5130	PCYT1A	Hearing impairment	HP:0000365
5130	PCYT1A	Global developmental delay	HP:0001263
5130	PCYT1A	Decreased hip abduction	HP:0003184
5130	PCYT1A	Hypoplastic inferior ilia	HP:0008821
5130	PCYT1A	Severe visual impairment	HP:0001141
5130	PCYT1A	Cupped ribs	HP:0000887
5130	PCYT1A	Abnormality of the optic disc	HP:0012795
5130	PCYT1A	Coxa vara	HP:0002812
5130	PCYT1A	Nystagmus	HP:0000639
5148	PDE6G	Abnormal electroretinogram	HP:0000512
5148	PDE6G	Hyperreflexia	HP:0001347
5148	PDE6G	Cataract	HP:0000518
5148	PDE6G	Autosomal recessive inheritance	HP:0000007
5148	PDE6G	Hypogonadism	HP:0000135
5148	PDE6G	Optic atrophy	HP:0000648
5148	PDE6G	Hyperinsulinemia	HP:0000842
5148	PDE6G	Anteverted nares	HP:0000463
5148	PDE6G	Conductive hearing impairment	HP:0000405
5148	PDE6G	Nyctalopia	HP:0000662
5148	PDE6G	Sensorineural hearing impairment	HP:0000407
5148	PDE6G	Abnormality of retinal pigmentation	HP:0007703
5148	PDE6G	Type II diabetes mellitus	HP:0005978
5148	PDE6G	Ophthalmoplegia	HP:0000602
5148	PDE6G	Atypical scarring of skin	HP:0000987
5148	PDE6G	Optic disc pallor	HP:0000543
5148	PDE6G	Hypoplasia of penis	HP:0008736
5148	PDE6G	Intellectual disability	HP:0001249
5148	PDE6G	Attenuation of retinal blood vessels	HP:0007843
5148	PDE6G	Abnormality of the testis	HP:0000035
5148	PDE6G	Photophobia	HP:0000613
5148	PDE6G	Obesity	HP:0001513
5148	PDE6G	Blindness	HP:0000618
5148	PDE6G	Constriction of peripheral visual field	HP:0001133
5148	PDE6G	Abnormality of the retinal vasculature	HP:0008046
5148	PDE6G	Wide nasal bridge	HP:0000431
5148	PDE6G	Cystoid macular edema	HP:0011505
5148	PDE6G	Keratoconus	HP:0000563
5148	PDE6G	Glaucoma	HP:0000501
5148	PDE6G	Progressive night blindness	HP:0007675
5148	PDE6G	Rod-cone dystrophy	HP:0000510
5148	PDE6G	Nystagmus	HP:0000639
5156	PDGFRA	Hepatomegaly	HP:0002240
5156	PDGFRA	Pulmonary infiltrates	HP:0002113
5156	PDGFRA	Urticaria	HP:0001025
5156	PDGFRA	Abnormality of the nervous system	HP:0000707
5156	PDGFRA	Neoplasm of the rectum	HP:0100743
5156	PDGFRA	Autosomal dominant inheritance	HP:0000006
5156	PDGFRA	Venous thrombosis	HP:0004936
5156	PDGFRA	Esophageal neoplasm	HP:0100751
5156	PDGFRA	Splenomegaly	HP:0001744
5156	PDGFRA	Sarcoma	HP:0100242
5156	PDGFRA	Somatic mutation	HP:0001428
5156	PDGFRA	Eosinophilia	HP:0001880
5156	PDGFRA	Large hands	HP:0001176
5156	PDGFRA	Fatigue	HP:0012378
5156	PDGFRA	Skin rash	HP:0000988
5156	PDGFRA	Pruritus	HP:0000989
5156	PDGFRA	Endocardial fibrosis	HP:0006685
5156	PDGFRA	Intestinal obstruction	HP:0005214
5156	PDGFRA	Dysphagia	HP:0002015
5156	PDGFRA	Neoplasm of the small intestine	HP:0100833
5156	PDGFRA	Sporadic	HP:0003745
5156	PDGFRA	Neoplasm of the stomach	HP:0006753
5156	PDGFRA	Nausea and vomiting	HP:0002017
5156	PDGFRA	Constipation	HP:0002019
5156	PDGFRA	Irregular hyperpigmentation	HP:0007400
5156	PDGFRA	Myeloproliferative disorder	HP:0005547
5156	PDGFRA	Neurofibromas	HP:0001067
5156	PDGFRA	Anemia	HP:0001903
5156	PDGFRA	Abnormality of the liver	HP:0001392
5156	PDGFRA	Neoplasm of the colon	HP:0100273
5156	PDGFRA	Gastrointestinal stroma tumor	HP:0100723
5156	PDGFRA	Hyperpigmentation of the skin	HP:0000953
5156	PDGFRA	Restrictive cardiomyopathy	HP:0001723
5156	PDGFRA	Myalgia	HP:0003326
5156	PDGFRA	Gastrointestinal hemorrhage	HP:0002239
5230	PGK1	Rhabdomyolysis	HP:0003201
5230	PGK1	Intellectual disability	HP:0001249
5230	PGK1	Seizures	HP:0001250
5230	PGK1	Reticulocytosis	HP:0001923
5230	PGK1	Ataxia	HP:0001251
5230	PGK1	Phenotypic variability	HP:0003812
5230	PGK1	Emotional lability	HP:0000712
5230	PGK1	X-linked recessive inheritance	HP:0001419
5230	PGK1	Retinal dystrophy	HP:0000556
5230	PGK1	Delayed speech and language development	HP:0000750
5230	PGK1	Global developmental delay	HP:0001263
5230	PGK1	Exercise-induced myoglobinuria	HP:0008305
5230	PGK1	Renal insufficiency	HP:0000083
5230	PGK1	Hemolytic anemia	HP:0001878
5230	PGK1	Exercise intolerance	HP:0003546
5230	PGK1	Visual loss	HP:0000572
5230	PGK1	Migraine	HP:0002076
5230	PGK1	Myopathy	HP:0003198
5230	PGK1	Exercise-induced muscle cramps	HP:0003710
78987	CRELD1	Heterogeneous	HP:0001425
78987	CRELD1	Right aortic arch with mirror image branching	HP:0002627
78987	CRELD1	Dextrocardia	HP:0001651
78987	CRELD1	Incomplete penetrance	HP:0003829
78987	CRELD1	Autosomal dominant inheritance	HP:0000006
78987	CRELD1	Pulmonary artery atresia	HP:0004935
78987	CRELD1	Atrioventricular canal defect	HP:0006695
79188	TMEM43	Congestive heart failure	HP:0001635
79188	TMEM43	Autosomal dominant inheritance	HP:0000006
79188	TMEM43	Muscular dystrophy	HP:0003560
79188	TMEM43	Palpitations	HP:0001962
79188	TMEM43	Chest pain	HP:0100749
79188	TMEM43	Sudden cardiac death	HP:0001645
79188	TMEM43	Right ventricular cardiomyopathy	HP:0011663
79188	TMEM43	Neck muscle weakness	HP:0000467
79188	TMEM43	Ventricular tachycardia	HP:0004756
79188	TMEM43	Prolonged QRS complex	HP:0006677
79188	TMEM43	Proximal muscle weakness	HP:0003701
79188	TMEM43	Atrial fibrillation	HP:0005110
79188	TMEM43	Proximal amyotrophy	HP:0007126
79188	TMEM43	Ventricular extrasystoles	HP:0006682
79188	TMEM43	Slow progression	HP:0003677
79188	TMEM43	Adult onset	HP:0003581
79188	TMEM43	Bradycardia	HP:0001662
30062	RAX	Anophthalmia	HP:0000528
30062	RAX	Sclerocornea	HP:0000647
30062	RAX	Autosomal recessive inheritance	HP:0000007
30062	RAX	Microphthalmia	HP:0000568
30062	RAX	Ankyloblepharon	HP:0009755
5506	PPP1R3A	Late onset	HP:0003584
5506	PPP1R3A	Hyperglycemia	HP:0003074
5506	PPP1R3A	Abnormality of the musculature	HP:0003011
5506	PPP1R3A	Autosomal dominant inheritance	HP:0000006
5506	PPP1R3A	Maternal diabetes	HP:0009800
5506	PPP1R3A	Hyperinsulinemia	HP:0000842
5506	PPP1R3A	Abnormality of the face	HP:0000271
5506	PPP1R3A	Abnormality of the neck	HP:0000464
5506	PPP1R3A	Primary amenorrhea	HP:0000786
5506	PPP1R3A	Polycystic ovaries	HP:0000147
5506	PPP1R3A	Insulin resistance	HP:0000855
5506	PPP1R3A	Type II diabetes mellitus	HP:0005978
5506	PPP1R3A	Decreased circulating high-density lipoprotein levels	HP:0003233
5506	PPP1R3A	Hyperuricemia	HP:0002149
5506	PPP1R3A	Lipodystrophy	HP:0009125
5506	PPP1R3A	Hypertriglyceridemia	HP:0002155
5506	PPP1R3A	Oligomenorrhea	HP:0000876
5506	PPP1R3A	Reduced subcutaneous adipose tissue	HP:0003758
5506	PPP1R3A	Hirsutism	HP:0001007
5506	PPP1R3A	Cirrhosis	HP:0001394
5506	PPP1R3A	Loss of subcutaneous adipose tissue in limbs	HP:0003635
5506	PPP1R3A	Hepatic steatosis	HP:0001397
5506	PPP1R3A	Hypertension	HP:0000822
5506	PPP1R3A	Prominent superficial veins	HP:0001015
5506	PPP1R3A	Loss of gluteal subcutaneous adipose tissue	HP:0009017
5506	PPP1R3A	Preeclampsia	HP:0100602
5506	PPP1R3A	Acanthosis nigricans	HP:0000956
5506	PPP1R3A	Insulin-resistant diabetes mellitus	HP:0000831
54820	NDE1	Profound global developmental delay	HP:0012736
54820	NDE1	Athetosis	HP:0002305
54820	NDE1	Skeletal muscle atrophy	HP:0003202
54820	NDE1	Hyperreflexia	HP:0001347
54820	NDE1	Ventriculomegaly	HP:0002119
54820	NDE1	Autosomal recessive inheritance	HP:0000007
54820	NDE1	Proptosis	HP:0000520
54820	NDE1	Generalized myoclonic seizures	HP:0002123
54820	NDE1	Intellectual disability, profound	HP:0002187
54820	NDE1	Multiple joint contractures	HP:0002828
54820	NDE1	Spastic tetraplegia	HP:0002510
54820	NDE1	Macrotia	HP:0000400
54820	NDE1	Sloping forehead	HP:0000340
54820	NDE1	Hydranencephaly	HP:0002324
54820	NDE1	Pachygyria	HP:0001302
54820	NDE1	Cortical gyral simplification	HP:0009879
54820	NDE1	Talipes equinovarus	HP:0001762
54820	NDE1	Short stature	HP:0004322
54820	NDE1	Seizures	HP:0001250
54820	NDE1	Self-mutilation	HP:0000742
54820	NDE1	Intellectual disability, progressive	HP:0006887
54820	NDE1	Cerebellar hypoplasia	HP:0001321
54820	NDE1	Prominent nasal bridge	HP:0000426
54820	NDE1	Global developmental delay	HP:0001263
54820	NDE1	Intellectual disability, severe	HP:0010864
54820	NDE1	Congenital onset	HP:0003577
54820	NDE1	Agenesis of corpus callosum	HP:0001274
54820	NDE1	Lissencephaly	HP:0001339
54820	NDE1	Microcephaly	HP:0000252
54820	NDE1	Hypertonia	HP:0001276
54820	NDE1	Hypoplasia of the brainstem	HP:0002365
5723	PSPH	Postnatal growth retardation	HP:0008897
5723	PSPH	Intellectual disability	HP:0001249
5723	PSPH	Seizures	HP:0001250
5723	PSPH	Intrauterine growth retardation	HP:0001511
5723	PSPH	Autosomal recessive inheritance	HP:0000007
5723	PSPH	Infantile onset	HP:0003593
5723	PSPH	Cerebral atrophy	HP:0002059
5723	PSPH	Microcephaly	HP:0000252
5723	PSPH	Hypertonia	HP:0001276
5723	PSPH	Global developmental delay	HP:0001263
5740	PTGIS	Multifactorial inheritance	HP:0001426
5740	PTGIS	Elevated systolic blood pressure	HP:0004421
5740	PTGIS	Elevated mean arterial pressure	HP:0004972
5740	PTGIS	Elevated diastolic blood pressure	HP:0005117
79600	TCTN1	Biparietal narrowing	HP:0004422
79600	TCTN1	Autosomal recessive inheritance	HP:0000007
79600	TCTN1	Gait disturbance	HP:0001288
79600	TCTN1	Hand polydactyly	HP:0001161
79600	TCTN1	Oral cleft	HP:0000202
79600	TCTN1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
79600	TCTN1	Aganglionic megacolon	HP:0002251
79600	TCTN1	Polymicrogyria	HP:0002126
79600	TCTN1	Anteverted nares	HP:0000463
79600	TCTN1	Oculomotor apraxia	HP:0000657
79600	TCTN1	Long face	HP:0000276
79600	TCTN1	Scoliosis	HP:0002650
79600	TCTN1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
79600	TCTN1	Situs inversus totalis	HP:0001696
79600	TCTN1	Intellectual disability	HP:0001249
79600	TCTN1	Seizures	HP:0001250
79600	TCTN1	Ataxia	HP:0001251
79600	TCTN1	Iris coloboma	HP:0000612
79600	TCTN1	Encephalocele	HP:0002084
79600	TCTN1	Muscular hypotonia	HP:0001252
79600	TCTN1	Foot polydactyly	HP:0001829
79600	TCTN1	Strabismus	HP:0000486
79600	TCTN1	Cerebellar vermis hypoplasia	HP:0001320
79600	TCTN1	Feeding difficulties in infancy	HP:0008872
79600	TCTN1	Prominent nasal bridge	HP:0000426
79600	TCTN1	Hydrocephalus	HP:0000238
79600	TCTN1	Global developmental delay	HP:0001263
79600	TCTN1	Abnormal form of the vertebral bodies	HP:0003312
79600	TCTN1	Low-set ears	HP:0000369
79600	TCTN1	Apnea	HP:0002104
79600	TCTN1	Tremor	HP:0001337
79600	TCTN1	Highly arched eyebrow	HP:0002553
79600	TCTN1	Episodic tachypnea	HP:0002876
79600	TCTN1	Ptosis	HP:0000508
79600	TCTN1	Nystagmus	HP:0000639
5932	RBBP8	Prominent nose	HP:0000448
5932	RBBP8	Absent earlobe	HP:0000387
5932	RBBP8	Heart murmur	HP:0030148
5932	RBBP8	Few cafe-au-lait spots	HP:0007429
5932	RBBP8	Autosomal recessive inheritance	HP:0000007
5932	RBBP8	Prematurely aged appearance	HP:0007495
5932	RBBP8	Single interphalangeal crease of fifth finger	HP:0006216
5932	RBBP8	Reduced number of teeth	HP:0009804
5932	RBBP8	Mild global developmental delay	HP:0011342
5932	RBBP8	Aggressive behavior	HP:0000718
5932	RBBP8	Craniosynostosis	HP:0001363
5932	RBBP8	Cone-shaped epiphysis	HP:0010579
5932	RBBP8	Narrow face	HP:0000275
5932	RBBP8	High pitched voice	HP:0001620
5932	RBBP8	4-5 toe syndactyly	HP:0004692
5932	RBBP8	Absent fourth finger distal interphalangeal crease	HP:0005780
5932	RBBP8	Narrow forehead	HP:0000341
5932	RBBP8	Ectopic kidney	HP:0000086
5932	RBBP8	Retrognathia	HP:0000278
5932	RBBP8	Scoliosis	HP:0002650
5932	RBBP8	Micrognathia	HP:0000347
5932	RBBP8	Hallux valgus	HP:0001822
5932	RBBP8	Intellectual disability	HP:0001249
5932	RBBP8	Sparse scalp hair	HP:0002209
5932	RBBP8	Short stature	HP:0004322
5932	RBBP8	Growth delay	HP:0001510
5932	RBBP8	Cachexia	HP:0004326
5932	RBBP8	Intrauterine growth retardation	HP:0001511
5932	RBBP8	Cerebellar hypoplasia	HP:0001321
5932	RBBP8	Hip dysplasia	HP:0001385
5932	RBBP8	Abnormality of dental enamel	HP:0000682
5932	RBBP8	Microglossia	HP:0000171
5932	RBBP8	Small for gestational age	HP:0001518
5932	RBBP8	Downslanted palpebral fissures	HP:0000494
5932	RBBP8	Hypospadias	HP:0000047
5932	RBBP8	Clinodactyly of the 5th finger	HP:0004209
5932	RBBP8	Microdontia	HP:0000691
5932	RBBP8	Glaucoma	HP:0000501
5932	RBBP8	Microphthalmia	HP:0000568
5932	RBBP8	Congenital microcephaly	HP:0011451
5932	RBBP8	Microcephaly	HP:0000252
5932	RBBP8	Short middle phalanx of the 5th finger	HP:0004220
5932	RBBP8	Joint hyperflexibility	HP:0005692
5932	RBBP8	Sandal gap	HP:0001852
5932	RBBP8	Convex nasal ridge	HP:0000444
5932	RBBP8	Cognitive impairment	HP:0100543
5932	RBBP8	Delayed skeletal maturation	HP:0002750
5932	RBBP8	Thoracic scoliosis	HP:0002943
79719	AAGAB	Renal cell carcinoma	HP:0005584
79719	AAGAB	Late onset	HP:0003584
79719	AAGAB	Heterogeneous	HP:0001425
79719	AAGAB	Transitional cell carcinoma of the bladder	HP:0006740
79719	AAGAB	Palmoplantar keratoderma	HP:0000982
79719	AAGAB	Autosomal dominant inheritance	HP:0000006
79719	AAGAB	Abnormality of the skin	HP:0000951
79719	AAGAB	Breast carcinoma	HP:0003002
79719	AAGAB	Colon cancer	HP:0003003
79719	AAGAB	Abnormality of the nail	HP:0001597
79719	AAGAB	Hodgkin lymphoma	HP:0012189
79719	AAGAB	Neoplasm of the pancreas	HP:0002894
55180	LINS1	Depressed nasal bridge	HP:0005280
55180	LINS1	Poor speech	HP:0002465
55180	LINS1	Intellectual disability	HP:0001249
55180	LINS1	Hyperreflexia	HP:0001347
55180	LINS1	Growth delay	HP:0001510
55180	LINS1	Autosomal recessive inheritance	HP:0000007
55180	LINS1	Midface retrusion	HP:0011800
55180	LINS1	Generalized hypotonia	HP:0001290
55180	LINS1	Microcephaly	HP:0000252
55180	LINS1	Aggressive behavior	HP:0000718
55180	LINS1	Global developmental delay	HP:0001263
6049	RNF6	Nausea and vomiting	HP:0002017
6049	RNF6	Esophageal carcinoma	HP:0011459
6049	RNF6	Autosomal dominant inheritance	HP:0000006
6049	RNF6	Feeding difficulties in infancy	HP:0008872
6049	RNF6	Abnormality of the voice	HP:0001608
6049	RNF6	Clinodactyly of the 5th toe	HP:0001864
6049	RNF6	Squamous cell carcinoma	HP:0002860
6049	RNF6	Lymphadenopathy	HP:0002716
6049	RNF6	Chest pain	HP:0100749
6049	RNF6	Cough	HP:0012735
79813	EHMT1	Brachydactyly	HP:0001156
79813	EHMT1	Autosomal dominant inheritance	HP:0000006
79813	EHMT1	Abnormal cardiac septum morphology	HP:0001671
79813	EHMT1	Generalized hypotonia	HP:0001290
79813	EHMT1	Malar flattening	HP:0000272
79813	EHMT1	Coarctation of aorta	HP:0001680
79813	EHMT1	Inguinal hernia	HP:0000023
79813	EHMT1	Synophrys	HP:0000664
79813	EHMT1	Midface retrusion	HP:0011800
79813	EHMT1	Coarse facial features	HP:0000280
79813	EHMT1	Downturned corners of mouth	HP:0002714
79813	EHMT1	Cryptorchidism	HP:0000028
79813	EHMT1	Recurrent respiratory infections	HP:0002205
79813	EHMT1	Macroglossia	HP:0000158
79813	EHMT1	Hypoplasia of penis	HP:0008736
79813	EHMT1	Sporadic	HP:0003745
79813	EHMT1	Echolalia	HP:0010529
79813	EHMT1	Conotruncal defect	HP:0001710
79813	EHMT1	Hypospadias	HP:0000047
79813	EHMT1	Mandibular prognathia	HP:0000303
79813	EHMT1	Specific learning disability	HP:0001328
79813	EHMT1	Abnormal renal morphology	HP:0012210
79813	EHMT1	Absent septum pellucidum	HP:0001331
79813	EHMT1	Dysphasia	HP:0002357
79813	EHMT1	Micropenis	HP:0000054
79813	EHMT1	U-Shaped upper lip vermilion	HP:0010806
79813	EHMT1	Natal tooth	HP:0000695
79813	EHMT1	Protruding tongue	HP:0010808
79813	EHMT1	Sleep disturbance	HP:0002360
79813	EHMT1	Single transverse palmar crease	HP:0000954
79813	EHMT1	Hypertelorism	HP:0000316
79813	EHMT1	Femoral hernia	HP:0100541
79813	EHMT1	Persistence of primary teeth	HP:0006335
79813	EHMT1	Feeding difficulties	HP:0011968
79813	EHMT1	Upslanted palpebral fissure	HP:0000582
79813	EHMT1	Ventriculomegaly	HP:0002119
79813	EHMT1	Absence seizures	HP:0002121
79813	EHMT1	Vesicoureteral reflux	HP:0000076
79813	EHMT1	Depressivity	HP:0000716
79813	EHMT1	Autism	HP:0000717
79813	EHMT1	Aphasia	HP:0002381
79813	EHMT1	Aggressive behavior	HP:0000718
79813	EHMT1	Anteverted nares	HP:0000463
79813	EHMT1	Flat face	HP:0012368
79813	EHMT1	Obsessive-compulsive behavior	HP:0000722
79813	EHMT1	Renal insufficiency	HP:0000083
79813	EHMT1	Cerebral cortical hemiatrophy	HP:0100308
79813	EHMT1	Status epilepticus	HP:0002133
79813	EHMT1	Epileptic spasms	HP:0011097
79813	EHMT1	Stereotypy	HP:0000733
79813	EHMT1	Flat occiput	HP:0005469
79813	EHMT1	Intellectual disability	HP:0001249
79813	EHMT1	Irritability	HP:0000737
79813	EHMT1	Talipes equinovarus	HP:0001762
79813	EHMT1	Tracheobronchomalacia	HP:0002786
79813	EHMT1	Seizures	HP:0001250
79813	EHMT1	Anxiety	HP:0000739
79813	EHMT1	Muscular hypotonia	HP:0001252
79813	EHMT1	Gastroesophageal reflux	HP:0002020
79813	EHMT1	Tetralogy of Fallot	HP:0001636
79813	EHMT1	Failure to thrive	HP:0001508
79813	EHMT1	Apathy	HP:0000741
79813	EHMT1	Growth delay	HP:0001510
79813	EHMT1	Everted lower lip vermilion	HP:0000232
79813	EHMT1	Obesity	HP:0001513
79813	EHMT1	Hearing impairment	HP:0000365
79813	EHMT1	Delayed speech and language development	HP:0000750
79813	EHMT1	Global developmental delay	HP:0001263
79813	EHMT1	Intellectual disability, severe	HP:0010864
79813	EHMT1	Aortic valve stenosis	HP:0001650
79813	EHMT1	Brachycephaly	HP:0000248
79813	EHMT1	Abnormality of the pinna	HP:0000377
79813	EHMT1	Highly arched eyebrow	HP:0002553
79813	EHMT1	Agenesis of corpus callosum	HP:0001274
79813	EHMT1	Aortic regurgitation	HP:0001659
79813	EHMT1	Microcephaly	HP:0000252
79813	EHMT1	Mutism	HP:0002300
79813	EHMT1	Short nose	HP:0003196
79813	EHMT1	Subcortical cerebral atrophy	HP:0012157
112752	IFT43	Macrocephaly	HP:0000256
112752	IFT43	Brachydactyly	HP:0001156
112752	IFT43	Sparse hair	HP:0008070
112752	IFT43	Narrow chest	HP:0000774
112752	IFT43	Autosomal recessive inheritance	HP:0000007
112752	IFT43	Syndactyly	HP:0001159
112752	IFT43	Short nail	HP:0001799
112752	IFT43	Dolichocephaly	HP:0000268
112752	IFT43	Prominent occiput	HP:0000269
112752	IFT43	Short distal phalanx of finger	HP:0009882
112752	IFT43	Hypodontia	HP:0000668
112752	IFT43	Broad nail	HP:0001821
112752	IFT43	Epicanthus	HP:0000286
112752	IFT43	Myopia	HP:0000545
112752	IFT43	Postaxial polydactyly	HP:0100259
112752	IFT43	Fine hair	HP:0002213
112752	IFT43	Taurodontia	HP:0000679
112752	IFT43	Abnormality of dental enamel	HP:0000682
112752	IFT43	Osteoporosis	HP:0000939
112752	IFT43	Abnormal diaphysis morphology	HP:0000940
112752	IFT43	Hypoplasia of teeth	HP:0000685
112752	IFT43	Widely spaced teeth	HP:0000687
112752	IFT43	Abnormality of the metaphysis	HP:0000944
112752	IFT43	High hypermetropia	HP:0008499
112752	IFT43	Microdontia	HP:0000691
112752	IFT43	Sandal gap	HP:0001852
112752	IFT43	Joint hyperflexibility	HP:0005692
112752	IFT43	Dry skin	HP:0000958
112752	IFT43	Stage 5 chronic kidney disease	HP:0003774
112752	IFT43	Abnormal toenail morphology	HP:0008388
112752	IFT43	Ectodermal dysplasia	HP:0000968
112752	IFT43	Rhizomelia	HP:0008905
112752	IFT43	Cutis laxa	HP:0000973
112752	IFT43	Scaphocephaly	HP:0030799
112752	IFT43	Anteverted nares	HP:0000463
112752	IFT43	Abnormality of the fingernails	HP:0001231
112752	IFT43	Craniosynostosis	HP:0001363
112752	IFT43	Finger syndactyly	HP:0006101
112752	IFT43	Frontal bossing	HP:0002007
112752	IFT43	Hypotelorism	HP:0000601
112752	IFT43	Nephronophthisis	HP:0000090
112752	IFT43	Sagittal craniosynostosis	HP:0004442
112752	IFT43	Micrognathia	HP:0000347
112752	IFT43	Short stature	HP:0004322
112752	IFT43	Everted lower lip vermilion	HP:0000232
112752	IFT43	Peripheral pulmonary artery stenosis	HP:0004969
112752	IFT43	Joint laxity	HP:0001388
112752	IFT43	Clinodactyly of the 5th finger	HP:0004209
112752	IFT43	Cirrhosis	HP:0001394
112752	IFT43	Telecanthus	HP:0000506
112752	IFT43	Pectus excavatum	HP:0000767
112752	IFT43	Nystagmus	HP:0000639
6295	SAG	Abnormal electroretinogram	HP:0000512
6295	SAG	Abnormality of macular pigmentation	HP:0008002
6295	SAG	Hyperreflexia	HP:0001347
6295	SAG	Pigmentary retinopathy	HP:0000580
6295	SAG	Cataract	HP:0000518
6295	SAG	Autosomal recessive inheritance	HP:0000007
6295	SAG	Hypogonadism	HP:0000135
6295	SAG	Optic atrophy	HP:0000648
6295	SAG	Hyperinsulinemia	HP:0000842
6295	SAG	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
6295	SAG	Hemeralopia	HP:0012047
6295	SAG	Anteverted nares	HP:0000463
6295	SAG	Chorioretinal atrophy	HP:0000533
6295	SAG	Conductive hearing impairment	HP:0000405
6295	SAG	Nyctalopia	HP:0000662
6295	SAG	Optic disc hypoplasia	HP:0007766
6295	SAG	Sensorineural hearing impairment	HP:0000407
6295	SAG	Abnormality of retinal pigmentation	HP:0007703
6295	SAG	Congenital stationary night blindness	HP:0007642
6295	SAG	Type II diabetes mellitus	HP:0005978
6295	SAG	Ophthalmoplegia	HP:0000602
6295	SAG	Atypical scarring of skin	HP:0000987
6295	SAG	Hypoplasia of penis	HP:0008736
6295	SAG	Intellectual disability	HP:0001249
6295	SAG	Abnormality of the testis	HP:0000035
6295	SAG	Photophobia	HP:0000613
6295	SAG	Strabismus	HP:0000486
6295	SAG	Obesity	HP:0001513
6295	SAG	Blindness	HP:0000618
6295	SAG	Abnormality of the retinal vasculature	HP:0008046
6295	SAG	Reduced visual acuity	HP:0007663
6295	SAG	Wide nasal bridge	HP:0000431
6295	SAG	Keratoconus	HP:0000563
6295	SAG	Glaucoma	HP:0000501
6295	SAG	Visual impairment	HP:0000505
6295	SAG	High myopia	HP:0011003
6295	SAG	Progressive night blindness	HP:0007675
6295	SAG	Rod-cone dystrophy	HP:0000510
6295	SAG	Nystagmus	HP:0000639
6305	SBF1	Intellectual disability	HP:0001249
6305	SBF1	Pes planus	HP:0001763
6305	SBF1	Areflexia	HP:0001284
6305	SBF1	Strabismus	HP:0000486
6305	SBF1	Syndactyly	HP:0001159
6305	SBF1	Autosomal recessive inheritance	HP:0000007
6305	SBF1	Gait disturbance	HP:0001288
6305	SBF1	Urinary incontinence	HP:0000020
6305	SBF1	Onion bulb formation	HP:0003383
6305	SBF1	Distal sensory impairment	HP:0002936
6305	SBF1	Decreased nerve conduction velocity	HP:0000762
6305	SBF1	Ophthalmoplegia	HP:0000602
6305	SBF1	Scoliosis	HP:0002650
6305	SBF1	Microcephaly	HP:0000252
6305	SBF1	Progressive	HP:0003676
6305	SBF1	Brain atrophy	HP:0012444
55532	SLC30A10	Hepatomegaly	HP:0002240
55532	SLC30A10	Decreased liver function	HP:0001410
55532	SLC30A10	Poor fine motor coordination	HP:0007010
55532	SLC30A10	Sensorimotor neuropathy	HP:0007141
55532	SLC30A10	Autosomal recessive inheritance	HP:0000007
55532	SLC30A10	Spastic paraparesis	HP:0002313
55532	SLC30A10	Dysarthria	HP:0001260
55532	SLC30A10	Increased total iron binding capacity	HP:0025196
55532	SLC30A10	Polycythemia	HP:0001901
55532	SLC30A10	Rigidity	HP:0002063
55532	SLC30A10	Cirrhosis	HP:0001394
55532	SLC30A10	Bradykinesia	HP:0002067
55532	SLC30A10	Parkinsonism	HP:0001300
55532	SLC30A10	Variable expressivity	HP:0003828
55532	SLC30A10	Dystonia	HP:0001332
55532	SLC30A10	Tremor	HP:0001337
55532	SLC30A10	Postural instability	HP:0002172
55532	SLC30A10	Elevated hepatic transaminases	HP:0002910
6443	SGCB	Elevated serum creatine phosphokinase	HP:0003236
6443	SGCB	Juvenile onset	HP:0003621
6443	SGCB	Proximal amyotrophy	HP:0007126
6443	SGCB	Autosomal recessive inheritance	HP:0000007
6443	SGCB	Muscular dystrophy	HP:0003560
6443	SGCB	Scapular winging	HP:0003691
6443	SGCB	Calf muscle pseudohypertrophy	HP:0003707
6443	SGCB	Shoulder girdle muscle atrophy	HP:0003724
6443	SGCB	Pelvic girdle muscle atrophy	HP:0008988
6443	SGCB	Dilated cardiomyopathy	HP:0001644
6443	SGCB	Limb-girdle muscle weakness	HP:0003325
22852	ANKRD26	Thrombocytopenia	HP:0001873
22852	ANKRD26	Bruising susceptibility	HP:0000978
22852	ANKRD26	Autosomal dominant inheritance	HP:0000006
80208	SPG11	Gaze-evoked nystagmus	HP:0000640
80208	SPG11	Saccadic smooth pursuit	HP:0001152
80208	SPG11	EMG abnormality	HP:0003457
80208	SPG11	Abnormality of the hand	HP:0001155
80208	SPG11	Autosomal recessive inheritance	HP:0000007
80208	SPG11	Gait disturbance	HP:0001288
80208	SPG11	Degeneration of the lateral corticospinal tracts	HP:0002314
80208	SPG11	Motor polyneuropathy	HP:0007178
80208	SPG11	Urinary urgency	HP:0000012
80208	SPG11	Lower limb spasticity	HP:0002061
80208	SPG11	Abnormality of the bladder	HP:0000014
80208	SPG11	Spastic gait	HP:0002064
80208	SPG11	Pseudobulbar behavioral symptoms	HP:0002193
80208	SPG11	Urinary incontinence	HP:0000020
80208	SPG11	Peripheral axonal neuropathy	HP:0003477
80208	SPG11	Urinary bladder sphincter dysfunction	HP:0002839
80208	SPG11	Distal peripheral sensory neuropathy	HP:0007067
80208	SPG11	Distal muscle weakness	HP:0002460
80208	SPG11	Hypoplasia of the corpus callosum	HP:0002079
80208	SPG11	Babinski sign	HP:0003487
80208	SPG11	Reduced tendon reflexes	HP:0001315
80208	SPG11	Juvenile onset	HP:0003621
80208	SPG11	Lower limb muscle weakness	HP:0007340
80208	SPG11	Specific learning disability	HP:0001328
80208	SPG11	Bulbar signs	HP:0002483
80208	SPG11	Decreased number of peripheral myelinated nerve fibers	HP:0003380
80208	SPG11	Ankle clonus	HP:0011448
80208	SPG11	Tremor	HP:0001337
80208	SPG11	Knee clonus	HP:0011449
80208	SPG11	Amyotrophic lateral sclerosis	HP:0007354
80208	SPG11	Respiratory insufficiency due to muscle weakness	HP:0002747
80208	SPG11	Cognitive impairment	HP:0100543
80208	SPG11	Abnormal lower motor neuron morphology	HP:0002366
80208	SPG11	Kyphoscoliosis	HP:0002751
80208	SPG11	Thenar muscle atrophy	HP:0003393
80208	SPG11	Ankle contracture	HP:0006466
80208	SPG11	Foot dorsiflexor weakness	HP:0009027
80208	SPG11	Hyperreflexia	HP:0001347
80208	SPG11	Childhood onset	HP:0011463
80208	SPG11	Ventriculomegaly	HP:0002119
80208	SPG11	Cerebral cortical atrophy	HP:0002120
80208	SPG11	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
80208	SPG11	Fasciculations	HP:0002380
80208	SPG11	Abnormal upper motor neuron morphology	HP:0002127
80208	SPG11	Abnormality of the periventricular white matter	HP:0002518
80208	SPG11	Abnormal pyramidal signs	HP:0007256
80208	SPG11	Progressive	HP:0003676
80208	SPG11	Slow progression	HP:0003677
80208	SPG11	Dysphagia	HP:0002015
80208	SPG11	Macular degeneration	HP:0000608
80208	SPG11	Pes cavus	HP:0001761
80208	SPG11	Intellectual disability	HP:0001249
80208	SPG11	Seizures	HP:0001250
80208	SPG11	Ataxia	HP:0001251
80208	SPG11	Tip-toe gait	HP:0030051
80208	SPG11	Phenotypic variability	HP:0003812
80208	SPG11	Peripheral neuropathy	HP:0009830
80208	SPG11	Spasticity	HP:0001257
80208	SPG11	Obesity	HP:0001513
80208	SPG11	Spastic paraplegia	HP:0001258
80208	SPG11	Dysarthria	HP:0001260
80208	SPG11	Distal amyotrophy	HP:0003693
80208	SPG11	Mental deterioration	HP:0001268
80208	SPG11	Impaired vibration sensation in the lower limbs	HP:0002166
80208	SPG11	Distal sensory impairment	HP:0002936
80208	SPG11	Visual impairment	HP:0000505
80208	SPG11	Agenesis of corpus callosum	HP:0001274
80208	SPG11	Sensory neuropathy	HP:0000763
80208	SPG11	Adult onset	HP:0003581
80208	SPG11	Nystagmus	HP:0000639
80208	SPG11	Decreased muscle mass	HP:0003199
6496	SIX3	Bifid uvula	HP:0000193
6496	SIX3	Anterior pituitary agenesis	HP:0010626
6496	SIX3	Adrenal hypoplasia	HP:0000835
6496	SIX3	Autosomal dominant inheritance	HP:0000006
6496	SIX3	Aplasia of the nose	HP:0009927
6496	SIX3	Generalized hypotonia	HP:0001290
6496	SIX3	Schizencephaly	HP:0010636
6496	SIX3	Malar flattening	HP:0000272
6496	SIX3	Holoprosencephaly	HP:0001360
6496	SIX3	Heterogeneous	HP:0001425
6496	SIX3	Midface retrusion	HP:0011800
6496	SIX3	Absent nasal septal cartilage	HP:0005273
6496	SIX3	Hypotelorism	HP:0000601
6496	SIX3	Scoliosis	HP:0002650
6496	SIX3	Sporadic	HP:0003745
6496	SIX3	Intellectual disability	HP:0001249
6496	SIX3	Seizures	HP:0001250
6496	SIX3	Constipation	HP:0002019
6496	SIX3	Cerebellar hypoplasia	HP:0001321
6496	SIX3	Diabetes insipidus	HP:0000873
6496	SIX3	Single median maxillary incisor	HP:0006315
6496	SIX3	Global developmental delay	HP:0001263
6496	SIX3	Submucous cleft hard palate	HP:0000176
6496	SIX3	Variable expressivity	HP:0003828
6496	SIX3	Incomplete penetrance	HP:0003829
6496	SIX3	Median cleft lip and palate	HP:0008501
6496	SIX3	Microphthalmia	HP:0000568
6496	SIX3	Agenesis of corpus callosum	HP:0001274
6496	SIX3	Cyclopia	HP:0009914
6496	SIX3	Microcephaly	HP:0000252
6531	SLC6A3	Feeding difficulties	HP:0011968
6531	SLC6A3	Constipation	HP:0002019
6531	SLC6A3	Gastroesophageal reflux	HP:0002020
6531	SLC6A3	Autosomal recessive inheritance	HP:0000007
6531	SLC6A3	Muscular hypotonia of the trunk	HP:0008936
6531	SLC6A3	Infantile onset	HP:0003593
6531	SLC6A3	Morphological abnormality of the pyramidal tract	HP:0002062
6531	SLC6A3	Global developmental delay	HP:0001263
6531	SLC6A3	Rigidity	HP:0002063
6531	SLC6A3	Delayed gross motor development	HP:0002194
6531	SLC6A3	Limb dystonia	HP:0002451
6531	SLC6A3	Bradykinesia	HP:0002067
6531	SLC6A3	Parkinsonism	HP:0001300
6531	SLC6A3	Dyskinesia	HP:0100660
6531	SLC6A3	Chorea	HP:0002072
6531	SLC6A3	Abnormal pyramidal signs	HP:0007256
6531	SLC6A3	Tremor	HP:0001337
6531	SLC6A3	Hypertonia	HP:0001276
6531	SLC6A3	Progressive	HP:0003676
80270	HSD3B7	Hepatomegaly	HP:0002240
80270	HSD3B7	Autosomal recessive inheritance	HP:0000007
80270	HSD3B7	Abnormality of coagulation	HP:0001928
80270	HSD3B7	Hypocholesterolemia	HP:0003146
80270	HSD3B7	Steatorrhea	HP:0002570
80270	HSD3B7	Splenomegaly	HP:0001744
80270	HSD3B7	Acholic stools	HP:0011985
80270	HSD3B7	Nyctalopia	HP:0000662
80270	HSD3B7	Giant cell hepatitis	HP:0200084
80270	HSD3B7	Hyperbilirubinemia	HP:0002904
80270	HSD3B7	Pruritus	HP:0000989
80270	HSD3B7	Elevated hepatic transaminases	HP:0002910
80270	HSD3B7	Diarrhea	HP:0002014
80270	HSD3B7	Failure to thrive	HP:0001508
80270	HSD3B7	Peripheral neuropathy	HP:0009830
80270	HSD3B7	Neonatal cholestatic liver disease	HP:0006566
80270	HSD3B7	Neonatal onset	HP:0003623
80270	HSD3B7	Malabsorption	HP:0002024
80270	HSD3B7	Osteoporosis	HP:0000939
80270	HSD3B7	Cirrhosis	HP:0001394
80270	HSD3B7	Hepatic failure	HP:0001399
80270	HSD3B7	Abnormality of the coagulation cascade	HP:0003256
80270	HSD3B7	Jaundice	HP:0000952
80270	HSD3B7	Biliary tract abnormality	HP:0001080
80270	HSD3B7	Intrahepatic cholestasis	HP:0001406
80270	HSD3B7	Gastrointestinal hemorrhage	HP:0002239
6575	SLC20A2	Hepatomegaly	HP:0002240
6575	SLC20A2	Athetosis	HP:0002305
6575	SLC20A2	Hyperreflexia	HP:0001347
6575	SLC20A2	Psychosis	HP:0000709
6575	SLC20A2	Autosomal dominant inheritance	HP:0000006
6575	SLC20A2	Ventriculomegaly	HP:0002119
6575	SLC20A2	Gait disturbance	HP:0001288
6575	SLC20A2	Calcification of the small brain vessels	HP:0002504
6575	SLC20A2	Depressivity	HP:0000716
6575	SLC20A2	Subcutaneous hemorrhage	HP:0001933
6575	SLC20A2	Rigidity	HP:0002063
6575	SLC20A2	Thrombocytopenia	HP:0001873
6575	SLC20A2	Cerebral calcification	HP:0002514
6575	SLC20A2	Bradykinesia	HP:0002067
6575	SLC20A2	Parkinsonism	HP:0001300
6575	SLC20A2	Urinary incontinence	HP:0000020
6575	SLC20A2	Corneal opacity	HP:0007957
6575	SLC20A2	Basal ganglia calcification	HP:0002135
6575	SLC20A2	Abnormal pyramidal signs	HP:0007256
6575	SLC20A2	Chorea	HP:0002072
6575	SLC20A2	Dysdiadochokinesis	HP:0002075
6575	SLC20A2	Progressive	HP:0003676
6575	SLC20A2	Dense calcifications in the cerebellar dentate nucleus	HP:0002461
6575	SLC20A2	Abnormality of neuronal migration	HP:0002269
6575	SLC20A2	Seizures	HP:0001250
6575	SLC20A2	Limb dysmetria	HP:0002406
6575	SLC20A2	Intrauterine growth retardation	HP:0001511
6575	SLC20A2	Mask-like facies	HP:0000298
6575	SLC20A2	Dysarthria	HP:0001260
6575	SLC20A2	Memory impairment	HP:0002354
6575	SLC20A2	Mental deterioration	HP:0001268
6575	SLC20A2	Dystonia	HP:0001332
6575	SLC20A2	Tremor	HP:0001337
6575	SLC20A2	Postural instability	HP:0002172
6575	SLC20A2	Microcephaly	HP:0000252
6575	SLC20A2	Adult onset	HP:0003581
6660	SOX5	Pectus carinatum	HP:0000768
6660	SOX5	Clinodactyly	HP:0030084
6660	SOX5	Vertebral fusion	HP:0002948
6660	SOX5	Autosomal dominant inheritance	HP:0000006
6660	SOX5	Optic atrophy	HP:0000648
6660	SOX5	Generalized hypotonia	HP:0001290
6660	SOX5	Exaggerated median tongue furrow	HP:0002711
6660	SOX5	Abnormality of brain morphology	HP:0012443
6660	SOX5	Thoracic kyphoscoliosis	HP:0005659
6660	SOX5	Bulbous nose	HP:0000414
6660	SOX5	Epicanthus	HP:0000286
6660	SOX5	Depressed nasal bridge	HP:0005280
6660	SOX5	Myopia	HP:0000545
6660	SOX5	Dental crowding	HP:0000678
6660	SOX5	Wide nasal bridge	HP:0000431
6660	SOX5	Overlapping toe	HP:0001845
6660	SOX5	Long hallux	HP:0001847
6660	SOX5	Narrow palate	HP:0000189
6660	SOX5	Feeding difficulties	HP:0011968
6660	SOX5	Exotropia	HP:0000577
6660	SOX5	Open mouth	HP:0000194
6660	SOX5	Facial asymmetry	HP:0000324
6660	SOX5	Long fingers	HP:0100807
6660	SOX5	Hyperplasia of the maxilla	HP:0430028
6660	SOX5	Abnormality of the genital system	HP:0000078
6660	SOX5	Aggressive behavior	HP:0000718
6660	SOX5	2-3 toe syndactyly	HP:0004691
6660	SOX5	Frontal bossing	HP:0002007
6660	SOX5	Scoliosis	HP:0002650
6660	SOX5	Stereotypy	HP:0000733
6660	SOX5	Intellectual disability	HP:0001249
6660	SOX5	Seizures	HP:0001250
6660	SOX5	Anxiety	HP:0000739
6660	SOX5	Pes planus	HP:0001763
6660	SOX5	Phenotypic variability	HP:0003812
6660	SOX5	Gastroesophageal reflux	HP:0002020
6660	SOX5	Muscular hypotonia	HP:0001252
6660	SOX5	Strabismus	HP:0000486
6660	SOX5	Posteriorly rotated ears	HP:0000358
6660	SOX5	Attention deficit hyperactivity disorder	HP:0007018
6660	SOX5	Vertebral clefting	HP:0008428
6660	SOX5	Self-injurious behavior	HP:0100716
6660	SOX5	Delayed speech and language development	HP:0000750
6660	SOX5	Downslanted palpebral fissures	HP:0000494
6660	SOX5	Global developmental delay	HP:0001263
6660	SOX5	Low-set ears	HP:0000369
6660	SOX5	Butterfly vertebrae	HP:0003316
6660	SOX5	Mitral regurgitation	HP:0001653
6660	SOX5	Motor delay	HP:0001270
6660	SOX5	Lumbar hyperlordosis	HP:0002938
113179	ADAT3	Intellectual disability	HP:0001249
113179	ADAT3	Failure to thrive	HP:0001508
113179	ADAT3	Esotropia	HP:0000565
113179	ADAT3	Autosomal recessive inheritance	HP:0000007
113179	ADAT3	Infantile onset	HP:0003593
113179	ADAT3	Generalized hypotonia	HP:0001290
113179	ADAT3	Microcephaly	HP:0000252
6687	SPG7	Pes cavus	HP:0001761
6687	SPG7	Hyperreflexia	HP:0001347
6687	SPG7	Autosomal dominant inheritance	HP:0000006
6687	SPG7	Autosomal recessive inheritance	HP:0000007
6687	SPG7	Optic atrophy	HP:0000648
6687	SPG7	Cerebral cortical atrophy	HP:0002120
6687	SPG7	Spastic paraplegia	HP:0001258
6687	SPG7	Degeneration of the lateral corticospinal tracts	HP:0002314
6687	SPG7	Urinary urgency	HP:0000012
6687	SPG7	Dysarthria	HP:0001260
6687	SPG7	Lower limb muscle weakness	HP:0007340
6687	SPG7	Lower limb spasticity	HP:0002061
6687	SPG7	Spastic gait	HP:0002064
6687	SPG7	Memory impairment	HP:0002354
6687	SPG7	Gait ataxia	HP:0002066
6687	SPG7	Urinary incontinence	HP:0000020
6687	SPG7	Impaired vibration sensation in the lower limbs	HP:0002166
6687	SPG7	Urinary bladder sphincter dysfunction	HP:0002839
6687	SPG7	Cerebellar atrophy	HP:0001272
6687	SPG7	Scoliosis	HP:0002650
6687	SPG7	Adult onset	HP:0003581
6687	SPG7	Dysphagia	HP:0002015
6687	SPG7	Babinski sign	HP:0003487
6687	SPG7	Nystagmus	HP:0000639
6736	SRY	Primary gonadal insufficiency	HP:0008193
6736	SRY	Gynecomastia	HP:0000771
6736	SRY	Muscle hypertrophy of the lower extremities	HP:0008968
6736	SRY	Testicular dysgenesis	HP:0008715
6736	SRY	Primary amenorrhea	HP:0000786
6736	SRY	Abnormality of male internal genitalia	HP:0000022
6736	SRY	Hypoplasia of the vagina	HP:0008726
6736	SRY	Decreased serum estradiol	HP:0008214
6736	SRY	Male hypogonadism	HP:0000026
6736	SRY	Female external genitalia in individual with 46,XY karyotype	HP:0008730
6736	SRY	Azoospermia	HP:0000027
6736	SRY	Cryptorchidism	HP:0000028
6736	SRY	Hallux valgus	HP:0001822
6736	SRY	Epicanthus	HP:0000286
6736	SRY	Decreased testicular size	HP:0008734
6736	SRY	Testicular gonadoblastoma	HP:0000030
6736	SRY	Hypoplasia of penis	HP:0008736
6736	SRY	Ambiguous genitalia, male	HP:0000033
6736	SRY	Male pseudohermaphroditism	HP:0000037
6736	SRY	Decreased testosterone in males	HP:0008230
6736	SRY	Epispadias	HP:0000039
6736	SRY	Penoscrotal hypospadias	HP:0000808
6736	SRY	Elevated circulating follicle stimulating hormone level	HP:0008232
6736	SRY	Chordee	HP:0000041
6736	SRY	Hypogonadotrophic hypogonadism	HP:0000044
6736	SRY	Abnormality of the scrotum	HP:0000045
6736	SRY	Scrotal hypoplasia	HP:0000046
6736	SRY	Hypospadias	HP:0000047
6736	SRY	Hypergonadotropic hypogonadism	HP:0000815
6736	SRY	Bifid scrotum	HP:0000048
6736	SRY	Hypothyroidism	HP:0000821
6736	SRY	Micropenis	HP:0000054
6736	SRY	Delayed puberty	HP:0000823
6736	SRY	Abnormality of female external genitalia	HP:0000055
6736	SRY	Abnormal scrotal rugation	HP:0012856
6736	SRY	Abnormality of the labia	HP:0000058
6736	SRY	Short 4th metacarpal	HP:0010044
6736	SRY	Ambiguous genitalia, female	HP:0000061
6736	SRY	Ovotestis	HP:0012861
6736	SRY	Ambiguous genitalia	HP:0000062
6736	SRY	Congenital glaucoma	HP:0001087
6736	SRY	Increased circulating gonadotropin level	HP:0000837
6736	SRY	Vanishing testis	HP:0012870
6736	SRY	Adrenal insufficiency	HP:0000846
6736	SRY	Horseshoe kidney	HP:0000085
6736	SRY	Ovarian serous cystadenoma	HP:0012887
6736	SRY	Scoliosis	HP:0002650
6736	SRY	Micrognathia	HP:0000347
6736	SRY	Tall stature	HP:0000098
6736	SRY	Decreased fertility in females	HP:0000868
6736	SRY	Nephrotic syndrome	HP:0000100
6736	SRY	Nephroblastoma	HP:0002667
6736	SRY	Hearing impairment	HP:0000365
6736	SRY	Bicuspid aortic valve	HP:0001647
6736	SRY	Low-set, posteriorly rotated ears	HP:0000368
6736	SRY	Tachycardia	HP:0001649
6736	SRY	Low posterior hairline	HP:0002162
6736	SRY	Nail dysplasia	HP:0002164
6736	SRY	Prolonged QT interval	HP:0001657
6736	SRY	Nystagmus	HP:0000639
6736	SRY	Cervix cancer	HP:0030079
6736	SRY	Abnormality of the uterus	HP:0000130
6736	SRY	Gonadal dysgenesis	HP:0000133
6736	SRY	Dyscalculia	HP:0002442
6736	SRY	Decreased fertility	HP:0000144
6736	SRY	Coarctation of aorta	HP:0001680
6736	SRY	Polycystic ovaries	HP:0000147
6736	SRY	Recurrent otitis media	HP:0000403
6736	SRY	Ovarian gonadoblastoma	HP:0000149
6736	SRY	Gonadoblastoma	HP:0000150
6736	SRY	Cubitus valgus	HP:0002967
6736	SRY	Sparse axillary hair	HP:0002215
6736	SRY	Urogenital sinus anomaly	HP:0100779
6736	SRY	Y-linked inheritance	HP:0001450
6736	SRY	Osteoporosis	HP:0000939
6736	SRY	Sparse pubic hair	HP:0002225
6736	SRY	Male infertility	HP:0003251
6736	SRY	Delayed skeletal maturation	HP:0002750
6736	SRY	Elevated circulating luteinizing hormone level	HP:0011969
6736	SRY	Unilateral cryptorchidism	HP:0012741
6736	SRY	Webbed neck	HP:0000465
6736	SRY	Wide intermamillary distance	HP:0006610
6736	SRY	Abnormal sex determination	HP:0012244
6736	SRY	Sex reversal	HP:0012245
6736	SRY	Abnormality of cardiovascular system morphology	HP:0030680
6736	SRY	Autistic behavior	HP:0000729
6736	SRY	Clitoral hypertrophy	HP:0008665
6736	SRY	High palate	HP:0000218
6736	SRY	True hermaphroditism	HP:0010459
6736	SRY	Streak ovary	HP:0010464
6736	SRY	Short stature	HP:0004322
6736	SRY	Intellectual disability, mild	HP:0001256
6736	SRY	Obesity	HP:0001513
6736	SRY	Decreased serum testosterone level	HP:0040171
6736	SRY	Bilateral cryptorchidism	HP:0008689
6736	SRY	Short metatarsal	HP:0010743
6736	SRY	Visual impairment	HP:0000505
6736	SRY	Absence of secondary sex characteristics	HP:0008187
6736	SRY	Pectus excavatum	HP:0000767
6768	ST14	Ichthyosis	HP:0008064
6768	ST14	Hypotrichosis	HP:0001006
64218	SEMA4A	Abnormal electroretinogram	HP:0000512
64218	SEMA4A	Hyperreflexia	HP:0001347
64218	SEMA4A	Epiphora	HP:0009926
64218	SEMA4A	Autosomal dominant inheritance	HP:0000006
64218	SEMA4A	Cataract	HP:0000518
64218	SEMA4A	Autosomal recessive inheritance	HP:0000007
64218	SEMA4A	Hypogonadism	HP:0000135
64218	SEMA4A	Optic atrophy	HP:0000648
64218	SEMA4A	Hyperinsulinemia	HP:0000842
64218	SEMA4A	Anteverted nares	HP:0000463
64218	SEMA4A	Progressive visual loss	HP:0000529
64218	SEMA4A	Conductive hearing impairment	HP:0000405
64218	SEMA4A	Nyctalopia	HP:0000662
64218	SEMA4A	Sensorineural hearing impairment	HP:0000407
64218	SEMA4A	Abnormality of retinal pigmentation	HP:0007703
64218	SEMA4A	Type II diabetes mellitus	HP:0005978
64218	SEMA4A	Ophthalmoplegia	HP:0000602
64218	SEMA4A	Atypical scarring of skin	HP:0000987
64218	SEMA4A	Macular degeneration	HP:0000608
64218	SEMA4A	Hypoplasia of penis	HP:0008736
64218	SEMA4A	Intellectual disability	HP:0001249
64218	SEMA4A	Abnormality of the testis	HP:0000035
64218	SEMA4A	Cone/cone-rod dystrophy	HP:0000548
64218	SEMA4A	Photophobia	HP:0000613
64218	SEMA4A	Abnormality of color vision	HP:0000551
64218	SEMA4A	Abnormality of skin pigmentation	HP:0001000
64218	SEMA4A	Obesity	HP:0001513
64218	SEMA4A	Blindness	HP:0000618
64218	SEMA4A	Abnormality of the retinal vasculature	HP:0008046
64218	SEMA4A	Wide nasal bridge	HP:0000431
64218	SEMA4A	Keratoconus	HP:0000563
64218	SEMA4A	Glaucoma	HP:0000501
64218	SEMA4A	Visual impairment	HP:0000505
64218	SEMA4A	Peripheral visual field loss	HP:0007994
64218	SEMA4A	Progressive night blindness	HP:0007675
64218	SEMA4A	Rod-cone dystrophy	HP:0000510
64218	SEMA4A	Nystagmus	HP:0000639
6899	TBX1	Umbilical hernia	HP:0001537
6899	TBX1	Tetany	HP:0001281
6899	TBX1	Autosomal dominant inheritance	HP:0000006
6899	TBX1	Intestinal malrotation	HP:0002566
6899	TBX1	Turricephaly	HP:0000262
6899	TBX1	Cataract	HP:0000518
6899	TBX1	Autosomal recessive inheritance	HP:0000007
6899	TBX1	Proptosis	HP:0000520
6899	TBX1	Abnormality of the thymus	HP:0000777
6899	TBX1	Hypoplasia of the thymus	HP:0000778
6899	TBX1	Abnormal aortic arch morphology	HP:0012303
6899	TBX1	Malar flattening	HP:0000272
6899	TBX1	Displacement of the external urethral meatus	HP:0100627
6899	TBX1	Narrow face	HP:0000275
6899	TBX1	Aplasia/Hypoplasia of the thymus	HP:0010515
6899	TBX1	Parathyroid agenesis	HP:0008211
6899	TBX1	Long face	HP:0000276
6899	TBX1	Retrognathia	HP:0000278
6899	TBX1	Inguinal hernia	HP:0000023
6899	TBX1	Midface retrusion	HP:0011800
6899	TBX1	Polyhydramnios	HP:0001561
6899	TBX1	Seborrheic dermatitis	HP:0001051
6899	TBX1	Cryptorchidism	HP:0000028
6899	TBX1	Hypopigmented skin patches	HP:0001053
6899	TBX1	Epicanthus	HP:0000286
6899	TBX1	Hypoplastic left heart	HP:0004383
6899	TBX1	Foot polydactyly	HP:0001829
6899	TBX1	Acne	HP:0001061
6899	TBX1	Retinal vascular tortuosity	HP:0012841
6899	TBX1	Hypospadias	HP:0000047
6899	TBX1	Bowel incontinence	HP:0002607
6899	TBX1	Specific learning disability	HP:0001328
6899	TBX1	Abnormality of the endocrine system	HP:0000818
6899	TBX1	Asthma	HP:0002099
6899	TBX1	Dysphasia	HP:0002357
6899	TBX1	Abnormal lung lobation	HP:0002101
6899	TBX1	Hypothyroidism	HP:0000821
6899	TBX1	Esotropia	HP:0000565
6899	TBX1	Microphthalmia	HP:0000568
6899	TBX1	Cholelithiasis	HP:0001081
6899	TBX1	Impaired T cell function	HP:0005435
6899	TBX1	Varicose veins	HP:0002619
6899	TBX1	Hypertelorism	HP:0000316
6899	TBX1	Joint hyperflexibility	HP:0005692
6899	TBX1	Multiple suture craniosynostosis	HP:0011324
6899	TBX1	Hypoparathyroidism	HP:0000829
6899	TBX1	Smooth philtrum	HP:0000319
6899	TBX1	Laryngomalacia	HP:0001601
6899	TBX1	Exotropia	HP:0000577
6899	TBX1	Short philtrum	HP:0000322
6899	TBX1	Right aortic arch with mirror image branching	HP:0002627
6899	TBX1	Hyperthyroidism	HP:0000836
6899	TBX1	Blepharophimosis	HP:0000581
6899	TBX1	Upslanted palpebral fissure	HP:0000582
6899	TBX1	Broad hallux	HP:0010055
6899	TBX1	Nasal speech	HP:0001611
6899	TBX1	Vesicoureteral reflux	HP:0000076
6899	TBX1	Broad forehead	HP:0000337
6899	TBX1	Thrombocytopenia	HP:0001873
6899	TBX1	Hypocalcemia	HP:0002901
6899	TBX1	Abnormality of the ear	HP:0000598
6899	TBX1	Long philtrum	HP:0000343
6899	TBX1	Abnormality of the pharynx	HP:0000600
6899	TBX1	Renal hypoplasia	HP:0000089
6899	TBX1	Arthritis	HP:0001369
6899	TBX1	Scoliosis	HP:0002650
6899	TBX1	Interrupted aortic arch	HP:0011611
6899	TBX1	Micrognathia	HP:0000347
6899	TBX1	Arrhinencephaly	HP:0002139
6899	TBX1	High forehead	HP:0000348
6899	TBX1	Parathyroid hypoplasia	HP:0000860
6899	TBX1	Ventricular septal defect	HP:0001629
6899	TBX1	Atrial septal defect	HP:0001631
6899	TBX1	Tetralogy of Fallot	HP:0001636
6899	TBX1	Occipital myelomeningocele	HP:0007271
6899	TBX1	Abnormal pulmonary valve morphology	HP:0001641
6899	TBX1	Attention deficit hyperactivity disorder	HP:0007018
6899	TBX1	Patent ductus arteriosus	HP:0001643
6899	TBX1	Hearing impairment	HP:0000365
6899	TBX1	Abnormal aortic valve morphology	HP:0001646
6899	TBX1	Chronic obstructive pulmonary disease	HP:0006510
6899	TBX1	Renal dysplasia	HP:0000110
6899	TBX1	Retinal arteriolar tortuosity	HP:0001136
6899	TBX1	Clinodactyly of the 5th finger	HP:0004209
6899	TBX1	Polycystic kidney dysplasia	HP:0000113
6899	TBX1	Low-set ears	HP:0000369
6899	TBX1	Abnormality of the middle ear	HP:0000370
6899	TBX1	Preauricular pit	HP:0004467
6899	TBX1	Posterior embryotoxon	HP:0000627
6899	TBX1	Neurological speech impairment	HP:0002167
6899	TBX1	Unilateral renal agenesis	HP:0000122
6899	TBX1	Truncus arteriosus	HP:0001660
6899	TBX1	Hydronephrosis	HP:0000126
6899	TBX1	Hypertensive crisis	HP:0100735
6899	TBX1	Small earlobe	HP:0000385
6899	TBX1	Abnormality of the uterus	HP:0000130
6899	TBX1	Abnormality of the hand	HP:0001155
6899	TBX1	Platybasia	HP:0002691
6899	TBX1	Transposition of the great arteries	HP:0001669
6899	TBX1	Chronic otitis media	HP:0000389
6899	TBX1	Bipolar affective disorder	HP:0007302
6899	TBX1	Amblyopia	HP:0000646
6899	TBX1	Sclerocornea	HP:0000647
6899	TBX1	Optic atrophy	HP:0000648
6899	TBX1	Hand polydactyly	HP:0001161
6899	TBX1	Complete atrioventricular canal defect	HP:0001674
6899	TBX1	Overfolded helix	HP:0000396
6899	TBX1	Arachnodactyly	HP:0001166
6899	TBX1	Tricuspid atresia	HP:0011662
6899	TBX1	Atelectasis	HP:0100750
6899	TBX1	Schizophrenia	HP:0100753
6899	TBX1	Autoimmunity	HP:0002960
6899	TBX1	Coarctation of aorta	HP:0001680
6899	TBX1	High, narrow palate	HP:0002705
6899	TBX1	Abnormality of metabolism/homeostasis	HP:0001939
6899	TBX1	Unilateral primary pulmonary dysgenesis	HP:0006549
6899	TBX1	Conductive hearing impairment	HP:0000405
6899	TBX1	Abnormality of the tonsils	HP:0100765
6899	TBX1	Bulbous nose	HP:0000414
6899	TBX1	Carious teeth	HP:0000670
6899	TBX1	Recurrent infections	HP:0002719
6899	TBX1	Narrow mouth	HP:0000160
6899	TBX1	Immunodeficiency	HP:0002721
6899	TBX1	Postaxial polydactyly	HP:0100259
6899	TBX1	Feeding difficulties in infancy	HP:0008872
6899	TBX1	Abnormality of dental enamel	HP:0000682
6899	TBX1	Prominent nasal bridge	HP:0000426
6899	TBX1	Underdeveloped nasal alae	HP:0000430
6899	TBX1	Cleft palate	HP:0000175
6899	TBX1	Wide nasal bridge	HP:0000431
6899	TBX1	Anterior creases of earlobe	HP:0009908
6899	TBX1	Patellar dislocation	HP:0002999
6899	TBX1	Double outlet right ventricle	HP:0001719
6899	TBX1	Multiple renal cysts	HP:0005562
6899	TBX1	Femoral hernia	HP:0100541
6899	TBX1	Wide nose	HP:0000445
6899	TBX1	Gastrointestinal hemorrhage	HP:0002239
6899	TBX1	Bifid uvula	HP:0000193
6899	TBX1	Open mouth	HP:0000194
6899	TBX1	Choanal atresia	HP:0000453
6899	TBX1	Depressed nasal ridge	HP:0000457
6899	TBX1	Pierre-Robin sequence	HP:0000201
6899	TBX1	Short palpebral fissure	HP:0012745
6899	TBX1	Aganglionic megacolon	HP:0002251
6899	TBX1	Depressivity	HP:0000716
6899	TBX1	Autism	HP:0000717
6899	TBX1	Aggressive behavior	HP:0000718
6899	TBX1	Mood swings	HP:0000720
6899	TBX1	Splenomegaly	HP:0001744
6899	TBX1	Obsessive-compulsive behavior	HP:0000722
6899	TBX1	Purpura	HP:0000979
6899	TBX1	Urethral stenosis	HP:0008661
6899	TBX1	Short neck	HP:0000470
6899	TBX1	Velopharyngeal insufficiency	HP:0000220
6899	TBX1	Stereotypy	HP:0000733
6899	TBX1	Paranoia	HP:0011999
6899	TBX1	Esophoria	HP:0025312
6899	TBX1	Intellectual disability	HP:0001249
6899	TBX1	Abnormality of immune system physiology	HP:0010978
6899	TBX1	Seizures	HP:0001250
6899	TBX1	Short stature	HP:0004322
6899	TBX1	Talipes equinovarus	HP:0001762
6899	TBX1	Anxiety	HP:0000739
6899	TBX1	Constipation	HP:0002019
6899	TBX1	Muscular hypotonia	HP:0001252
6899	TBX1	Failure to thrive	HP:0001508
6899	TBX1	Gastroesophageal reflux	HP:0002020
6899	TBX1	Growth delay	HP:0001510
6899	TBX1	Strabismus	HP:0000486
6899	TBX1	Intrauterine growth retardation	HP:0001511
6899	TBX1	Anal atresia	HP:0002023
6899	TBX1	Corneal neovascularization	HP:0011496
6899	TBX1	Intellectual disability, mild	HP:0001256
6899	TBX1	Obesity	HP:0001513
6899	TBX1	Downslanted palpebral fissures	HP:0000494
6899	TBX1	Delayed speech and language development	HP:0000750
6899	TBX1	Hydrocephalus	HP:0000238
6899	TBX1	Global developmental delay	HP:0001263
6899	TBX1	Glaucoma	HP:0000501
6899	TBX1	Telecanthus	HP:0000506
6899	TBX1	Ptosis	HP:0000508
6899	TBX1	Microcephaly	HP:0000252
6899	TBX1	Abnormality of the thorax	HP:0000765
6899	TBX1	Myalgia	HP:0003326
375611	SLC26A5	Sensorineural hearing impairment	HP:0000407
375611	SLC26A5	Autosomal recessive inheritance	HP:0000007
64321	SOX17	Autosomal dominant inheritance	HP:0000006
64321	SOX17	Hydroureter	HP:0000072
64321	SOX17	Polyhydramnios	HP:0001561
64321	SOX17	Vesicoureteral reflux	HP:0000076
64321	SOX17	Hydronephrosis	HP:0000126
23394	ADNP	Feeding difficulties	HP:0011968
23394	ADNP	Autosomal dominant inheritance	HP:0000006
23394	ADNP	Infantile onset	HP:0003593
23394	ADNP	Generalized hypotonia	HP:0001290
23394	ADNP	Obsessive-compulsive behavior	HP:0000722
23394	ADNP	Prominent forehead	HP:0011220
23394	ADNP	Autistic behavior	HP:0000729
23394	ADNP	Thin upper lip vermilion	HP:0000219
23394	ADNP	Abnormal heart morphology	HP:0001627
23394	ADNP	Hypermetropia	HP:0000540
23394	ADNP	Stereotypy	HP:0000733
23394	ADNP	Recurrent infections	HP:0002719
23394	ADNP	Language impairment	HP:0002463
23394	ADNP	Intellectual disability	HP:0001249
23394	ADNP	Seizures	HP:0001250
23394	ADNP	Short stature	HP:0004322
23394	ADNP	Strabismus	HP:0000486
23394	ADNP	Obesity	HP:0001513
23394	ADNP	Joint laxity	HP:0001388
23394	ADNP	Downslanted palpebral fissures	HP:0000494
23394	ADNP	Wide nasal bridge	HP:0000431
23394	ADNP	Global developmental delay	HP:0001263
23394	ADNP	Hyperactivity	HP:0000752
23394	ADNP	Eyelid coloboma	HP:0000625
23394	ADNP	Small hand	HP:0200055
23394	ADNP	Visual impairment	HP:0000505
23394	ADNP	Ptosis	HP:0000508
23394	ADNP	Short nose	HP:0003196
23394	ADNP	Smooth philtrum	HP:0000319
7018	TF	Abnormality of the liver	HP:0001392
7018	TF	Congestive heart failure	HP:0001635
7018	TF	Abnormality of the pancreas	HP:0001732
7018	TF	Hypothyroidism	HP:0000821
7018	TF	Autosomal recessive inheritance	HP:0000007
7018	TF	Arthritis	HP:0001369
7018	TF	Abnormality of the cardiovascular system	HP:0001626
7018	TF	Hypochromic anemia	HP:0001931
7018	TF	Atransferrinemia	HP:0012239
7018	TF	Anemia	HP:0001903
7018	TF	Recurrent infections	HP:0002719
23417	MLYCD	Short stature	HP:0004322
23417	MLYCD	Seizures	HP:0001250
23417	MLYCD	Chronic constipation	HP:0012450
23417	MLYCD	Hypertrophic cardiomyopathy	HP:0001639
23417	MLYCD	Autosomal recessive inheritance	HP:0000007
23417	MLYCD	Generalized hypotonia	HP:0001290
23417	MLYCD	Abdominal pain	HP:0002027
23417	MLYCD	Global developmental delay	HP:0001263
23417	MLYCD	Metabolic acidosis	HP:0001942
23417	MLYCD	Pachygyria	HP:0001302
23417	MLYCD	Hypoglycemia	HP:0001943
23417	MLYCD	Lactic acidosis	HP:0003128
23417	MLYCD	Ketosis	HP:0001946
23417	MLYCD	Vomiting	HP:0002013
23417	MLYCD	Diarrhea	HP:0002014
56246	MRAP	Increased circulating ACTH level	HP:0003154
56246	MRAP	Decreased circulating cortisol level	HP:0008163
56246	MRAP	Recurrent hypoglycemia	HP:0001988
56246	MRAP	Autosomal recessive inheritance	HP:0000007
56246	MRAP	Hyperpigmentation of the skin	HP:0000953
56262	LRRC8A	Osteomyelitis	HP:0002754
56262	LRRC8A	Chronic otitis media	HP:0000389
56262	LRRC8A	Autosomal dominant inheritance	HP:0000006
56262	LRRC8A	Sepsis	HP:0100806
56262	LRRC8A	Meningitis	HP:0001287
56262	LRRC8A	Agammaglobulinemia	HP:0004432
56262	LRRC8A	Hepatitis	HP:0012115
56262	LRRC8A	Neutropenia	HP:0001875
56262	LRRC8A	Dehydration	HP:0001944
56262	LRRC8A	Arthritis	HP:0001369
56262	LRRC8A	Fever	HP:0001945
56262	LRRC8A	High palate	HP:0000218
56262	LRRC8A	Fatigue	HP:0012378
56262	LRRC8A	Skin rash	HP:0000988
56262	LRRC8A	Recurrent respiratory infections	HP:0002205
56262	LRRC8A	Epicanthus	HP:0000286
56262	LRRC8A	Diarrhea	HP:0002014
56262	LRRC8A	Immunodeficiency	HP:0002721
56262	LRRC8A	Failure to thrive	HP:0001508
56262	LRRC8A	Malabsorption	HP:0002024
56262	LRRC8A	Verrucae	HP:0200043
56262	LRRC8A	Recurrent skin infections	HP:0001581
56262	LRRC8A	Low-set ears	HP:0000369
56262	LRRC8A	Cellulitis	HP:0100658
56262	LRRC8A	Sinusitis	HP:0000246
56262	LRRC8A	Hypertelorism	HP:0000316
56262	LRRC8A	External ear malformation	HP:0008572
56262	LRRC8A	Conjunctivitis	HP:0000509
56262	LRRC8A	Bronchiectasis	HP:0002110
56262	LRRC8A	Cough	HP:0012735
7128	TNFAIP3	Lymphopenia	HP:0001888
7128	TNFAIP3	Episodic fever	HP:0001954
7128	TNFAIP3	Polyarticular arthritis	HP:0005764
7128	TNFAIP3	Antinuclear antibody positivity	HP:0003493
7128	TNFAIP3	Autosomal dominant inheritance	HP:0000006
7128	TNFAIP3	Thrombocytopenia	HP:0001873
7128	TNFAIP3	Genital ulcers	HP:0003249
7128	TNFAIP3	Hemolytic anemia	HP:0001878
7128	TNFAIP3	Colitis	HP:0002583
7128	TNFAIP3	Anterior uveitis	HP:0012122
7128	TNFAIP3	Oral ulcer	HP:0000155
7128	TNFAIP3	Skin rash	HP:0000988
7128	TNFAIP3	Lupus anticoagulant	HP:0025343
23522	KAT6B	Pectus carinatum	HP:0000768
23522	KAT6B	Multicystic kidney dysplasia	HP:0000003
23522	KAT6B	Autosomal dominant inheritance	HP:0000006
23522	KAT6B	Autosomal recessive inheritance	HP:0000007
23522	KAT6B	Proptosis	HP:0000520
23522	KAT6B	Abnormality of the antihelix	HP:0009738
23522	KAT6B	Generalized hypotonia	HP:0001290
23522	KAT6B	Prominent occiput	HP:0000269
23522	KAT6B	Enlarged thorax	HP:0100625
23522	KAT6B	Retrognathia	HP:0000278
23522	KAT6B	Midface retrusion	HP:0011800
23522	KAT6B	Coarse facial features	HP:0000280
23522	KAT6B	Polyhydramnios	HP:0001561
23522	KAT6B	Cryptorchidism	HP:0000028
23522	KAT6B	Atrioventricular canal defect	HP:0006695
23522	KAT6B	Neoplasm of the tongue	HP:0100648
23522	KAT6B	Pulmonary hypoplasia	HP:0002089
23522	KAT6B	Patellar aplasia	HP:0006443
23522	KAT6B	Muscle weakness	HP:0001324
23522	KAT6B	Hypogonadotrophic hypogonadism	HP:0000044
23522	KAT6B	Scrotal hypoplasia	HP:0000046
23522	KAT6B	Specific learning disability	HP:0001328
23522	KAT6B	Abnormal dermatoglyphics	HP:0007477
23522	KAT6B	Hypothyroidism	HP:0000821
23522	KAT6B	Micropenis	HP:0000054
23522	KAT6B	Apnea	HP:0002104
23522	KAT6B	Joint hyperflexibility	HP:0005692
23522	KAT6B	Hypertelorism	HP:0000316
23522	KAT6B	Pulmonary artery stenosis	HP:0004415
23522	KAT6B	Laryngomalacia	HP:0001601
23522	KAT6B	Triangular face	HP:0000325
23522	KAT6B	Blepharophimosis	HP:0000581
23522	KAT6B	Abnormality of the cheek	HP:0004426
23522	KAT6B	Short phalanx of finger	HP:0009803
23522	KAT6B	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
23522	KAT6B	Sloping forehead	HP:0000340
23522	KAT6B	Long philtrum	HP:0000343
23522	KAT6B	Scoliosis	HP:0002650
23522	KAT6B	Micrognathia	HP:0000347
23522	KAT6B	High forehead	HP:0000348
23522	KAT6B	Abnormal platelet function	HP:0011869
23522	KAT6B	Ventricular septal defect	HP:0001629
23522	KAT6B	Congenital hip dislocation	HP:0001374
23522	KAT6B	Atrial septal defect	HP:0001631
23522	KAT6B	Colpocephaly	HP:0030048
23522	KAT6B	Abnormal hair quantity	HP:0011362
23522	KAT6B	Abnormal bleeding	HP:0001892
23522	KAT6B	Abnormal morphology of the nasolacrimal system	HP:0000614
23522	KAT6B	Posteriorly rotated ears	HP:0000358
23522	KAT6B	Thyroid hypoplasia	HP:0005990
23522	KAT6B	Hypoplastic ischia	HP:0003175
23522	KAT6B	Abnormal pulmonary valve morphology	HP:0001641
23522	KAT6B	Patent ductus arteriosus	HP:0001643
23522	KAT6B	Hearing impairment	HP:0000365
23522	KAT6B	Low-set, posteriorly rotated ears	HP:0000368
23522	KAT6B	Clinodactyly of the 5th finger	HP:0004209
23522	KAT6B	Low-set ears	HP:0000369
23522	KAT6B	Low posterior hairline	HP:0002162
23522	KAT6B	Aplasia of the semicircular canal	HP:0011381
23522	KAT6B	Long nose	HP:0003189
23522	KAT6B	Hypoplastic inferior pubic rami	HP:0008823
23522	KAT6B	Hydronephrosis	HP:0000126
23522	KAT6B	Nystagmus	HP:0000639
23522	KAT6B	Brachydactyly	HP:0001156
23522	KAT6B	Thickened helices	HP:0000391
23522	KAT6B	Abnormality of coagulation	HP:0001928
23522	KAT6B	Camptodactyly of finger	HP:0100490
23522	KAT6B	Sensorineural hearing impairment	HP:0000407
23522	KAT6B	Arrhythmia	HP:0011675
23522	KAT6B	Recurrent respiratory infections	HP:0002205
23522	KAT6B	Radioulnar synostosis	HP:0002974
23522	KAT6B	Bulbous nose	HP:0000414
23522	KAT6B	Coarse hair	HP:0002208
23522	KAT6B	Sparse scalp hair	HP:0002209
23522	KAT6B	Fine hair	HP:0002213
23522	KAT6B	Feeding difficulties in infancy	HP:0008872
23522	KAT6B	Prominent nasal bridge	HP:0000426
23522	KAT6B	Delayed eruption of teeth	HP:0000684
23522	KAT6B	Bilateral single transverse palmar creases	HP:0007598
23522	KAT6B	Submucous cleft hard palate	HP:0000176
23522	KAT6B	Hypoplastic ilia	HP:0000946
23522	KAT6B	Thick lower lip vermilion	HP:0000179
23522	KAT6B	Severe short stature	HP:0003510
23522	KAT6B	Patellar dislocation	HP:0002999
23522	KAT6B	Short palm	HP:0004279
23522	KAT6B	Ectopic thyroid	HP:0100028
23522	KAT6B	Wide nose	HP:0000445
23522	KAT6B	Delayed skeletal maturation	HP:0002750
23522	KAT6B	Hepatomegaly	HP:0002240
23522	KAT6B	Prominent nose	HP:0000448
23522	KAT6B	Feeding difficulties	HP:0011968
23522	KAT6B	Bifid uvula	HP:0000193
23522	KAT6B	Short palpebral fissure	HP:0012745
23522	KAT6B	Hip contracture	HP:0003273
23522	KAT6B	Abnormality of the spleen	HP:0001743
23522	KAT6B	Webbed neck	HP:0000465
23522	KAT6B	Wide intermamillary distance	HP:0006610
23522	KAT6B	Clitoral hypertrophy	HP:0008665
23522	KAT6B	High palate	HP:0000218
23522	KAT6B	Thickened nuchal skin fold	HP:0000474
23522	KAT6B	Cystic hygroma	HP:0000476
23522	KAT6B	Dysphagia	HP:0002015
23522	KAT6B	Intellectual disability	HP:0001249
23522	KAT6B	Short stature	HP:0004322
23522	KAT6B	Seizures	HP:0001250
23522	KAT6B	Talipes equinovarus	HP:0001762
23522	KAT6B	Melanocytic nevus	HP:0000995
23522	KAT6B	Muscular hypotonia	HP:0001252
23522	KAT6B	Failure to thrive	HP:0001508
23522	KAT6B	Gastroesophageal reflux	HP:0002020
23522	KAT6B	Strabismus	HP:0000486
23522	KAT6B	Intellectual disability, progressive	HP:0006887
23522	KAT6B	Enlarged labia minora	HP:0008683
23522	KAT6B	Lymphedema	HP:0001004
23522	KAT6B	Dysarthria	HP:0001260
23522	KAT6B	Knee flexion contracture	HP:0006380
23522	KAT6B	Downslanted palpebral fissures	HP:0000494
23522	KAT6B	Delayed speech and language development	HP:0000750
23522	KAT6B	Global developmental delay	HP:0001263
23522	KAT6B	Arthrogryposis multiplex congenita	HP:0002804
23522	KAT6B	Agenesis of corpus callosum	HP:0001274
23522	KAT6B	Ptosis	HP:0000508
23522	KAT6B	Microcephaly	HP:0000252
23522	KAT6B	Periventricular gray matter heterotopia	HP:0007165
23522	KAT6B	Pectus excavatum	HP:0000767
23522	KAT6B	Thyroid agenesis	HP:0008191
23534	TNPO3	Hypoalbuminemia	HP:0003073
23534	TNPO3	Portal hypertension	HP:0001409
23534	TNPO3	Dermatographic urticaria	HP:0011971
23534	TNPO3	Ascites	HP:0001541
23534	TNPO3	Abdominal distention	HP:0003270
23534	TNPO3	Elevated alkaline phosphatase	HP:0003155
23534	TNPO3	Hepatitis	HP:0012115
23534	TNPO3	Fatigue	HP:0012378
23534	TNPO3	Conjugated hyperbilirubinemia	HP:0002908
23534	TNPO3	Pruritus	HP:0000989
23534	TNPO3	Abnormality of the intrahepatic bile duct	HP:0011040
23534	TNPO3	Gastrointestinal inflammation	HP:0004386
23534	TNPO3	Antinuclear antibody positivity	HP:0003493
23534	TNPO3	Increased IgM level	HP:0003496
23534	TNPO3	Onychomycosis	HP:0012203
23534	TNPO3	Osteoporosis	HP:0000939
23534	TNPO3	Excessive daytime somnolence	HP:0001262
23534	TNPO3	Abnormality of lipid metabolism	HP:0003119
23534	TNPO3	Celiac disease	HP:0002608
23534	TNPO3	Cirrhosis	HP:0001394
23534	TNPO3	Hepatic fibrosis	HP:0001395
23534	TNPO3	Abnormality of the thyroid gland	HP:0000820
23534	TNPO3	Biliary cirrhosis	HP:0002613
23534	TNPO3	Hepatic failure	HP:0001399
23534	TNPO3	Jaundice	HP:0000952
23534	TNPO3	Hyperpigmentation of the skin	HP:0000953
23534	TNPO3	Hepatocellular carcinoma	HP:0001402
23534	TNPO3	Increased IgA level	HP:0003261
23534	TNPO3	Orthostatic hypotension	HP:0001278
7225	TRPC6	Focal segmental glomerulosclerosis	HP:0000097
7225	TRPC6	Nephrotic syndrome	HP:0000100
7225	TRPC6	Proteinuria	HP:0000093
7225	TRPC6	Chronic kidney disease	HP:0012622
7251	TSG101	Heterogeneous	HP:0001425
7251	TSG101	Autosomal dominant inheritance	HP:0000006
7251	TSG101	Breast carcinoma	HP:0003002
7341	SUMO1	Microdontia	HP:0000691
7341	SUMO1	Oligodontia	HP:0000677
7341	SUMO1	Hypoplasia of the maxilla	HP:0000327
7341	SUMO1	Micrognathia	HP:0000347
7341	SUMO1	Unilateral cleft lip	HP:0100333
7341	SUMO1	Unilateral cleft palate	HP:0100334
7443	VRK1	Abnormality of the foot	HP:0001760
7443	VRK1	Intellectual disability	HP:0001249
7443	VRK1	Hypoplasia of the ventral pons	HP:0006850
7443	VRK1	Hyperreflexia	HP:0001347
7443	VRK1	Ataxia	HP:0001251
7443	VRK1	Spinal muscular atrophy	HP:0007269
7443	VRK1	Autosomal recessive inheritance	HP:0000007
7443	VRK1	Feeding difficulties in infancy	HP:0008872
7443	VRK1	Cerebellar hypoplasia	HP:0001321
7443	VRK1	Generalized hypotonia	HP:0001290
7443	VRK1	Fasciculations	HP:0002380
7443	VRK1	Muscle weakness	HP:0001324
7443	VRK1	Respiratory insufficiency	HP:0002093
7443	VRK1	Hypoplasia of the pons	HP:0012110
7443	VRK1	Global developmental delay	HP:0001263
7443	VRK1	Neuronal loss in basal ganglia	HP:0200147
7443	VRK1	Congenital contracture	HP:0002803
7443	VRK1	EMG: neuropathic changes	HP:0003445
7443	VRK1	Basal ganglia gliosis	HP:0006999
7443	VRK1	Congenital onset	HP:0003577
7443	VRK1	Progressive	HP:0003676
7443	VRK1	Degeneration of anterior horn cells	HP:0002398
7486	WRN	Aplasia/Hypoplasia of the skin	HP:0008065
7486	WRN	Skeletal muscle atrophy	HP:0003202
7486	WRN	Cataract	HP:0000518
7486	WRN	Ovarian neoplasm	HP:0100615
7486	WRN	Hypogonadism	HP:0000135
7486	WRN	Autosomal recessive inheritance	HP:0000007
7486	WRN	Decreased fertility	HP:0000144
7486	WRN	Sarcoma	HP:0100242
7486	WRN	Narrow face	HP:0000275
7486	WRN	Spontaneous abortion	HP:0005268
7486	WRN	Abnormality of retinal pigmentation	HP:0007703
7486	WRN	Acral lentiginous melanoma	HP:0012060
7486	WRN	Sparse scalp hair	HP:0002209
7486	WRN	Retinal degeneration	HP:0000546
7486	WRN	White forelock	HP:0002211
7486	WRN	Chondrocalcinosis	HP:0000934
7486	WRN	Premature graying of hair	HP:0002216
7486	WRN	Neoplasm of the oral cavity	HP:0100649
7486	WRN	Meningioma	HP:0002858
7486	WRN	Osteoporosis	HP:0000939
7486	WRN	Squamous cell carcinoma	HP:0002860
7486	WRN	Rocker bottom foot	HP:0001838
7486	WRN	Neoplasm of the lung	HP:0100526
7486	WRN	Abnormality of the cerebral vasculature	HP:0100659
7486	WRN	Diabetes mellitus	HP:0000819
7486	WRN	Hypertension	HP:0000822
7486	WRN	Premature arteriosclerosis	HP:0005177
7486	WRN	Breast carcinoma	HP:0003002
7486	WRN	Abnormality of the hair	HP:0001595
7486	WRN	Convex nasal ridge	HP:0000444
7486	WRN	Atherosclerosis	HP:0002621
7486	WRN	Pulmonary artery stenosis	HP:0004415
7486	WRN	Pili torti	HP:0003777
7486	WRN	Laryngomalacia	HP:0001601
7486	WRN	Subcutaneous calcification	HP:0007618
7486	WRN	Hyperkeratosis	HP:0000962
7486	WRN	Lack of skin elasticity	HP:0100679
7486	WRN	Abnormality of the voice	HP:0001608
7486	WRN	Thyroid carcinoma	HP:0002890
7486	WRN	Progeroid facial appearance	HP:0005328
7486	WRN	Insulin resistance	HP:0000855
7486	WRN	Type II diabetes mellitus	HP:0005978
7486	WRN	Neoplasm of the small intestine	HP:0100833
7486	WRN	Abnormal hair whorl	HP:0010721
7486	WRN	Short stature	HP:0004322
7486	WRN	Congestive heart failure	HP:0001635
7486	WRN	Lipoatrophy	HP:0100578
7486	WRN	Aplasia/Hypoplasia of the testes	HP:0010468
7486	WRN	Secondary amenorrhea	HP:0000869
7486	WRN	Telangiectasia of the skin	HP:0100585
7486	WRN	Skin ulcer	HP:0200042
7486	WRN	Joint stiffness	HP:0001387
7486	WRN	Osteosarcoma	HP:0002669
7486	WRN	Gastrointestinal carcinoma	HP:0002672
7486	WRN	Small hand	HP:0200055
7486	WRN	Increased bone mineral density	HP:0011001
7486	WRN	Myocardial infarction	HP:0001658
7486	WRN	Abnormality of the thorax	HP:0000765
7486	WRN	Slender build	HP:0001533
7486	WRN	Renal neoplasm	HP:0009726
100128927	ZBTB42	Macrocephaly	HP:0000256
100128927	ZBTB42	Congenital contracture	HP:0002803
100128927	ZBTB42	Decreased fetal movement	HP:0001558
100128927	ZBTB42	Autosomal recessive inheritance	HP:0000007
7546	ZIC2	Depressed nasal bridge	HP:0005280
7546	ZIC2	Intellectual disability	HP:0001249
7546	ZIC2	Autosomal dominant inheritance	HP:0000006
7546	ZIC2	Upslanted palpebral fissure	HP:0000582
7546	ZIC2	Oral cleft	HP:0000202
7546	ZIC2	Hydrocephalus	HP:0000238
7546	ZIC2	Abnormal facial shape	HP:0001999
7546	ZIC2	Global developmental delay	HP:0001263
7546	ZIC2	Holoprosencephaly	HP:0001360
7546	ZIC2	Macrotia	HP:0000400
7546	ZIC2	Trigonocephaly	HP:0000243
7546	ZIC2	Narrow forehead	HP:0000341
7546	ZIC2	Synophrys	HP:0000664
7546	ZIC2	Hypotelorism	HP:0000601
7546	ZIC2	High palate	HP:0000218
7546	ZIC2	Hypertelorism	HP:0000316
7546	ZIC2	Microcephaly	HP:0000252
7681	MKRN3	Clinodactyly	HP:0030084
7681	MKRN3	Autosomal dominant inheritance	HP:0000006
7681	MKRN3	Syndactyly	HP:0001159
7681	MKRN3	Generalized hypotonia	HP:0001290
7681	MKRN3	Dolichocephaly	HP:0000268
7681	MKRN3	Primary amenorrhea	HP:0000786
7681	MKRN3	Infertility	HP:0000789
7681	MKRN3	Decreased fetal movement	HP:0001558
7681	MKRN3	Downturned corners of mouth	HP:0002714
7681	MKRN3	Hypermetropia	HP:0000540
7681	MKRN3	Cryptorchidism	HP:0000028
7681	MKRN3	Recurrent respiratory infections	HP:0002205
7681	MKRN3	Carious teeth	HP:0000670
7681	MKRN3	Polyphagia	HP:0002591
7681	MKRN3	Impaired pain sensation	HP:0007328
7681	MKRN3	Sporadic	HP:0003745
7681	MKRN3	Myopia	HP:0000545
7681	MKRN3	Sleep apnea	HP:0010535
7681	MKRN3	Osteopenia	HP:0000938
7681	MKRN3	Osteoporosis	HP:0000939
7681	MKRN3	Hypogonadotrophic hypogonadism	HP:0000044
7681	MKRN3	Scrotal hypoplasia	HP:0000046
7681	MKRN3	Specific learning disability	HP:0001328
7681	MKRN3	Iris hypopigmentation	HP:0007730
7681	MKRN3	Esotropia	HP:0000565
7681	MKRN3	Micropenis	HP:0000054
7681	MKRN3	Delayed puberty	HP:0000823
7681	MKRN3	Short palm	HP:0004279
7681	MKRN3	Growth hormone deficiency	HP:0000824
7681	MKRN3	Precocious puberty	HP:0000826
7681	MKRN3	Narrow palm	HP:0004283
7681	MKRN3	Frontal upsweep of hair	HP:0002236
7681	MKRN3	Clitoral hypoplasia	HP:0000060
7681	MKRN3	Narrow nasal bridge	HP:0000446
7681	MKRN3	Hypoplastic labia minora	HP:0000064
7681	MKRN3	Almond-shaped palpebral fissure	HP:0007874
7681	MKRN3	Psychosis	HP:0000709
7681	MKRN3	Upslanted palpebral fissure	HP:0000582
7681	MKRN3	Abdominal obesity	HP:0012743
7681	MKRN3	Ventriculomegaly	HP:0002119
7681	MKRN3	Premature thelarche	HP:0010314
7681	MKRN3	Hyperinsulinemia	HP:0000842
7681	MKRN3	Nasal speech	HP:0001611
7681	MKRN3	Autism	HP:0000717
7681	MKRN3	Adrenal insufficiency	HP:0000846
7681	MKRN3	Temperature instability	HP:0005968
7681	MKRN3	Narrow forehead	HP:0000341
7681	MKRN3	Generalized hypopigmentation	HP:0007513
7681	MKRN3	Type II diabetes mellitus	HP:0005978
7681	MKRN3	Scoliosis	HP:0002650
7681	MKRN3	Thin upper lip vermilion	HP:0000219
7681	MKRN3	Hypopigmentation of hair	HP:0005599
7681	MKRN3	Cutaneous photosensitivity	HP:0000992
7681	MKRN3	Seizures	HP:0001250
7681	MKRN3	Short stature	HP:0004322
7681	MKRN3	Poor fine motor coordination	HP:0007010
7681	MKRN3	Poor gross motor coordination	HP:0007015
7681	MKRN3	Hypoventilation	HP:0002791
7681	MKRN3	Hip dysplasia	HP:0001385
7681	MKRN3	Obesity	HP:0001513
7681	MKRN3	Attention deficit hyperactivity disorder	HP:0007018
7681	MKRN3	Oligomenorrhea	HP:0000876
7681	MKRN3	Short foot	HP:0001773
7681	MKRN3	Delayed speech and language development	HP:0000750
7681	MKRN3	Global developmental delay	HP:0001263
7681	MKRN3	Accelerated skeletal maturation	HP:0005616
7681	MKRN3	Poor suck	HP:0002033
7681	MKRN3	Hypopigmentation of the skin	HP:0001010
7681	MKRN3	Small hand	HP:0200055
7681	MKRN3	Motor delay	HP:0001270
7681	MKRN3	Kyphosis	HP:0002808
7681	MKRN3	Radial deviation of finger	HP:0009466
7681	MKRN3	Failure to thrive in infancy	HP:0001531
7681	MKRN3	Decreased muscle mass	HP:0003199
343637	RSPO4	Anonychia	HP:0001798
343637	RSPO4	Autosomal recessive inheritance	HP:0000007
56922	MCCC1	Hyperammonemia	HP:0001987
56922	MCCC1	Hyperreflexia	HP:0001347
56922	MCCC1	Opisthotonus	HP:0002179
56922	MCCC1	Abnormality of leucine metabolism	HP:0004357
56922	MCCC1	Autosomal recessive inheritance	HP:0000007
56922	MCCC1	Organic aciduria	HP:0001992
56922	MCCC1	Generalized hypotonia	HP:0001290
56922	MCCC1	Heterogeneous	HP:0001425
56922	MCCC1	Hypoglycemia	HP:0001943
56922	MCCC1	Acute hyperammonemia	HP:0008281
56922	MCCC1	Vomiting	HP:0002013
56922	MCCC1	Intellectual disability	HP:0001249
56922	MCCC1	Seizures	HP:0001250
56922	MCCC1	Muscular hypotonia	HP:0001252
56922	MCCC1	Failure to thrive	HP:0001508
56922	MCCC1	Phenotypic variability	HP:0003812
56922	MCCC1	Lethargy	HP:0001254
56922	MCCC1	Ketonuria	HP:0002919
56922	MCCC1	Feeding difficulties in infancy	HP:0008872
56922	MCCC1	Spasticity	HP:0001257
56922	MCCC1	Coma	HP:0001259
56922	MCCC1	Respiratory insufficiency	HP:0002093
56922	MCCC1	Acute hepatic steatosis	HP:0006573
56922	MCCC1	Episodic metabolic acidosis	HP:0004911
56922	MCCC1	Global developmental delay	HP:0001263
56922	MCCC1	Abnormality of the cerebral vasculature	HP:0100659
56922	MCCC1	Abnormality of movement	HP:0100022
56922	MCCC1	Failure to thrive in infancy	HP:0001531
7957	EPM2A	Cutaneous photosensitivity	HP:0000992
7957	EPM2A	Simple partial occipital seizures	HP:0025121
7957	EPM2A	Psychosis	HP:0000709
7957	EPM2A	Generalized tonic-clonic seizures with focal onset	HP:0007334
7957	EPM2A	Autosomal recessive inheritance	HP:0000007
7957	EPM2A	Progressive neurologic deterioration	HP:0002344
7957	EPM2A	Gait disturbance	HP:0001288
7957	EPM2A	Absence seizures	HP:0002121
7957	EPM2A	Apraxia	HP:0002186
7957	EPM2A	Generalized myoclonic seizures	HP:0002123
7957	EPM2A	Heterogeneous	HP:0001425
7957	EPM2A	Abnormality of metabolism/homeostasis	HP:0001939
7957	EPM2A	Dementia	HP:0000726
7957	EPM2A	Hepatic failure	HP:0001399
7957	EPM2A	Myoclonus	HP:0001336
7957	EPM2A	Visual loss	HP:0000572
7957	EPM2A	Visual auras	HP:0011165
7957	EPM2A	Rapidly progressive	HP:0003678
7957	EPM2A	Visual hallucinations	HP:0002367
57167	SALL4	Crossed fused renal ectopia	HP:0004736
57167	SALL4	Facial palsy	HP:0010628
57167	SALL4	Vertebral fusion	HP:0002948
57167	SALL4	Aplastic clavicles	HP:0006660
57167	SALL4	Fused cervical vertebrae	HP:0002949
57167	SALL4	Absent radius	HP:0003974
57167	SALL4	Autosomal dominant inheritance	HP:0000006
57167	SALL4	Cataract	HP:0000518
57167	SALL4	Intestinal malrotation	HP:0002566
57167	SALL4	Syndactyly	HP:0001159
57167	SALL4	Slit-like opening of the exterior auditory meatus	HP:0008588
57167	SALL4	Radial deviation of the hand	HP:0009486
57167	SALL4	Bladder diverticulum	HP:0000015
57167	SALL4	Rectovaginal fistula	HP:0000143
57167	SALL4	Palpebral fissure narrowing on adduction	HP:0000661
57167	SALL4	Conductive hearing impairment	HP:0000405
57167	SALL4	Sensorineural hearing impairment	HP:0000407
57167	SALL4	Preaxial hand polydactyly	HP:0001177
57167	SALL4	Arrhythmia	HP:0011675
57167	SALL4	Epicanthus	HP:0000286
57167	SALL4	Impaired ocular adduction	HP:0000542
57167	SALL4	Radioulnar synostosis	HP:0002974
57167	SALL4	Short humerus	HP:0005792
57167	SALL4	External ophthalmoplegia	HP:0000544
57167	SALL4	Hypoplasia of deltoid muscle	HP:0030241
57167	SALL4	Preaxial polydactyly	HP:0100258
57167	SALL4	Pectoralis hypoplasia	HP:0008998
57167	SALL4	Hypoplasia of the radius	HP:0002984
57167	SALL4	Triphalangeal thumb	HP:0001199
57167	SALL4	Limited interphalangeal movement	HP:0006064
57167	SALL4	Absent thumb	HP:0009777
57167	SALL4	Short thumb	HP:0009778
57167	SALL4	Short distal phalanx of the thumb	HP:0009650
57167	SALL4	Short 1st metacarpal	HP:0010034
57167	SALL4	Limited elbow movement	HP:0002996
57167	SALL4	Abnormal dermatoglyphics	HP:0007477
57167	SALL4	Severe short stature	HP:0003510
57167	SALL4	Leukocytosis	HP:0001974
57167	SALL4	Chorioretinal coloboma	HP:0000567
57167	SALL4	Upper limb muscle hypoplasia	HP:0009016
57167	SALL4	Microphthalmia	HP:0000568
57167	SALL4	Synostosis of carpal bones	HP:0005048
57167	SALL4	Sandal gap	HP:0001852
57167	SALL4	Hypertelorism	HP:0000316
57167	SALL4	Aplasia of metacarpal bones	HP:0010048
57167	SALL4	Duane anomaly	HP:0009921
57167	SALL4	Postnatal growth retardation	HP:0008897
57167	SALL4	Choanal stenosis	HP:0000452
57167	SALL4	Facial asymmetry	HP:0000324
57167	SALL4	Choanal atresia	HP:0000453
57167	SALL4	Short palpebral fissure	HP:0012745
57167	SALL4	Abnormality of the nasopharynx	HP:0001739
57167	SALL4	Aganglionic megacolon	HP:0002251
57167	SALL4	Broad hallux phalanx	HP:0010059
57167	SALL4	Vesicoureteral reflux	HP:0000076
57167	SALL4	Optic nerve coloboma	HP:0000588
57167	SALL4	Hypoplasia of the ulna	HP:0003022
57167	SALL4	Thrombocytopenia	HP:0001873
57167	SALL4	Horseshoe kidney	HP:0000085
57167	SALL4	Finger syndactyly	HP:0006101
57167	SALL4	Optic disc hypoplasia	HP:0007766
57167	SALL4	Renal hypoplasia	HP:0000089
57167	SALL4	Scoliosis	HP:0002650
57167	SALL4	Carpal bone hypoplasia	HP:0001498
57167	SALL4	Talipes	HP:0001883
57167	SALL4	Radial club hand	HP:0004059
57167	SALL4	Ventricular septal defect	HP:0001629
57167	SALL4	Small thenar eminence	HP:0001245
57167	SALL4	Atrial septal defect	HP:0001631
57167	SALL4	Retinal coloboma	HP:0000480
57167	SALL4	Spina bifida occulta	HP:0003298
57167	SALL4	Microcornea	HP:0000482
57167	SALL4	Pes planus	HP:0001763
57167	SALL4	Phenotypic variability	HP:0003812
57167	SALL4	Iris coloboma	HP:0000612
57167	SALL4	Tetralogy of Fallot	HP:0001636
57167	SALL4	Strabismus	HP:0000486
57167	SALL4	Renal hypoplasia/aplasia	HP:0008678
57167	SALL4	Carpal synostosis	HP:0009702
57167	SALL4	Anal atresia	HP:0002023
57167	SALL4	Congenital strabismus	HP:0000487
57167	SALL4	Renal agenesis	HP:0000104
57167	SALL4	Renal malrotation	HP:0004712
57167	SALL4	Limited wrist movement	HP:0006248
57167	SALL4	Anal stenosis	HP:0002025
57167	SALL4	Toe syndactyly	HP:0001770
57167	SALL4	Impaired convergence	HP:0000619
57167	SALL4	Joint stiffness	HP:0001387
57167	SALL4	Hearing impairment	HP:0000365
57167	SALL4	Visual impairment	HP:0000505
57167	SALL4	Pectoralis major hypoplasia	HP:0008953
57167	SALL4	Impaired ocular abduction	HP:0000634
57167	SALL4	Ptosis	HP:0000508
57167	SALL4	Short hallux	HP:0010109
57167	SALL4	Hydronephrosis	HP:0000126
57167	SALL4	Nystagmus	HP:0000639
81846	SBF2	Pes cavus	HP:0001761
81846	SBF2	Talipes equinovarus	HP:0001762
81846	SBF2	Foot dorsiflexor weakness	HP:0009027
81846	SBF2	Areflexia	HP:0001284
81846	SBF2	Hammertoe	HP:0001765
81846	SBF2	Juvenile onset	HP:0003621
81846	SBF2	Decreased motor nerve conduction velocity	HP:0003431
81846	SBF2	Autosomal recessive inheritance	HP:0000007
81846	SBF2	Distal amyotrophy	HP:0003693
81846	SBF2	Steppage gait	HP:0003376
81846	SBF2	Hyporeflexia	HP:0001265
81846	SBF2	Heterogeneous	HP:0001425
81846	SBF2	Split hand	HP:0001171
81846	SBF2	Difficulty walking	HP:0002355
81846	SBF2	Decreased number of peripheral myelinated nerve fibers	HP:0003380
81846	SBF2	Glaucoma	HP:0000501
81846	SBF2	Sensorineural hearing impairment	HP:0000407
81846	SBF2	Onion bulb formation	HP:0003383
81846	SBF2	Distal sensory impairment	HP:0002936
81846	SBF2	Segmental peripheral demyelination/remyelination	HP:0003481
81846	SBF2	Ulnar claw	HP:0001178
81846	SBF2	Distal muscle weakness	HP:0002460
81846	SBF2	Kyphoscoliosis	HP:0002751
