#Format: entrez-gene-id<tab>entrez-gene-symbol<tab>HPO-Term-Name<tab>HPO-Term-ID
8192	CLPP	Seizures	HP:0001250
8192	CLPP	Short stature	HP:0004322
8192	CLPP	Primary amenorrhea	HP:0000786
8192	CLPP	Autosomal recessive inheritance	HP:0000007
8192	CLPP	Microcephaly	HP:0000252
8192	CLPP	Hypoplasia of the uterus	HP:0000013
8192	CLPP	Congenital sensorineural hearing impairment	HP:0008527
8192	CLPP	Hypergonadotropic hypogonadism	HP:0000815
2	A2M	Autosomal dominant inheritance	HP:0000006
8195	MKKS	Abnormal electroretinogram	HP:0000512
8195	MKKS	Skeletal muscle atrophy	HP:0003202
8195	MKKS	Multicystic kidney dysplasia	HP:0000003
8195	MKKS	Brachydactyly	HP:0001156
8195	MKKS	Autosomal recessive inheritance	HP:0000007
8195	MKKS	Syndactyly	HP:0001159
8195	MKKS	Hypogonadism	HP:0000135
8195	MKKS	Postaxial hand polydactyly	HP:0001162
8195	MKKS	Abnormality of the metacarpal bones	HP:0001163
8195	MKKS	Mesoaxial hand polydactyly	HP:0006159
8195	MKKS	Rectovaginal fistula	HP:0000143
8195	MKKS	Transverse vaginal septum	HP:0000145
8195	MKKS	Vaginal atresia	HP:0000148
8195	MKKS	Hypoplasia of the ovary	HP:0008724
8195	MKKS	Cryptorchidism	HP:0000028
8195	MKKS	Hypoplastic left heart	HP:0004383
8195	MKKS	Hypoplasia of penis	HP:0008736
8195	MKKS	Postaxial foot polydactyly	HP:0001830
8195	MKKS	Glandular hypospadias	HP:0000807
8195	MKKS	External genital hypoplasia	HP:0003241
8195	MKKS	Pulmonary hypoplasia	HP:0002089
8195	MKKS	Urogenital sinus anomaly	HP:0100779
8195	MKKS	Prominent nasal bridge	HP:0000426
8195	MKKS	Ectopic anus	HP:0004397
8195	MKKS	Hypospadias	HP:0000047
8195	MKKS	Cleft palate	HP:0000175
8195	MKKS	Tarsal synostosis	HP:0008368
8195	MKKS	Vesicovaginal fistula	HP:0001586
8195	MKKS	Diabetes mellitus	HP:0000819
8195	MKKS	Hypertension	HP:0000822
8195	MKKS	Generalized hirsutism	HP:0002230
8195	MKKS	Hydrometrocolpos	HP:0030010
8195	MKKS	Urethral stricture	HP:0012227
8195	MKKS	Pigmentary retinopathy	HP:0000580
8195	MKKS	Hydroureter	HP:0000072
8195	MKKS	Edema	HP:0000969
8195	MKKS	Polydactyly	HP:0010442
8195	MKKS	Aganglionic megacolon	HP:0002251
8195	MKKS	Finger syndactyly	HP:0006101
8195	MKKS	Short neck	HP:0000470
8195	MKKS	Abnormality of cardiovascular system morphology	HP:0030680
8195	MKKS	High palate	HP:0000218
8195	MKKS	Ventricular septal defect	HP:0001629
8195	MKKS	Congenital hip dislocation	HP:0001374
8195	MKKS	Atrial septal defect	HP:0001631
8195	MKKS	Intellectual disability	HP:0001249
8195	MKKS	Short stature	HP:0004322
8195	MKKS	Failure to thrive	HP:0001508
8195	MKKS	Tetralogy of Fallot	HP:0001636
8195	MKKS	Nephrotic syndrome	HP:0000100
8195	MKKS	Renal hypoplasia/aplasia	HP:0008678
8195	MKKS	Anal atresia	HP:0002023
8195	MKKS	Obesity	HP:0001513
8195	MKKS	Renal cyst	HP:0000107
8195	MKKS	Patent ductus arteriosus	HP:0001643
8195	MKKS	Hearing impairment	HP:0000365
8195	MKKS	Downslanted palpebral fissures	HP:0000494
8195	MKKS	Global developmental delay	HP:0001263
8195	MKKS	Low-set, posteriorly rotated ears	HP:0000368
8195	MKKS	Polycystic kidney dysplasia	HP:0000113
8195	MKKS	Hepatic fibrosis	HP:0001395
8195	MKKS	Pedal edema	HP:0010741
8195	MKKS	Neurological speech impairment	HP:0002167
8195	MKKS	Medial flaring of the eyebrow	HP:0010747
8195	MKKS	Rod-cone dystrophy	HP:0000510
8195	MKKS	Hydronephrosis	HP:0000126
8195	MKKS	Nystagmus	HP:0000639
8200	GDF5	Small nail	HP:0001792
8200	GDF5	Shortening of all proximal phalanges of the fingers	HP:0006144
8200	GDF5	Deviation of finger	HP:0004097
8200	GDF5	Abnormality of the radius	HP:0002818
8200	GDF5	Autosomal dominant inheritance	HP:0000006
8200	GDF5	Autosomal recessive inheritance	HP:0000007
8200	GDF5	Absent toe	HP:0010760
8200	GDF5	Hip dislocation	HP:0002827
8200	GDF5	Metatarsus valgus	HP:0010508
8200	GDF5	Acromesomelia	HP:0003086
8200	GDF5	Cone-shaped epiphyses of the middle phalanges of the hand	HP:0010259
8200	GDF5	Pseudoepiphyses of the 2nd finger	HP:0009495
8200	GDF5	Short femur	HP:0003097
8200	GDF5	Aplasia/Hypoplasia involving the metacarpal bones	HP:0005914
8200	GDF5	Hallux valgus	HP:0001822
8200	GDF5	Aplasia of the middle phalanges of the toes	HP:0100387
8200	GDF5	Short toe	HP:0001831
8200	GDF5	Broad thumb	HP:0011304
8200	GDF5	Aplasia/Hypoplasia of the 1st metacarpal	HP:0010026
8200	GDF5	Abnormality of epiphysis morphology	HP:0005930
8200	GDF5	Enlarged epiphysis of the middle phalanx of the 2nd finger	HP:0009516
8200	GDF5	Symphalangism affecting the phalanges of the hand	HP:0009773
8200	GDF5	Short thumb	HP:0009778
8200	GDF5	Short 1st metacarpal	HP:0010034
8200	GDF5	Triangular epiphysis of the middle phalanx of the 2nd finger	HP:0009523
8200	GDF5	Short 2nd metacarpal	HP:0010038
8200	GDF5	Enlarged epiphysis of the proximal phalanx of the 2nd finger	HP:0009527
8200	GDF5	Joint hyperflexibility	HP:0005692
8200	GDF5	Abnormality of the nail	HP:0001597
8200	GDF5	Triangular epiphysis of the proximal phalanx of the 2nd finger	HP:0009534
8200	GDF5	Hypersegmentation of proximal phalanx of second finger	HP:0006206
8200	GDF5	Short 2nd finger	HP:0009536
8200	GDF5	Short metacarpal	HP:0010049
8200	GDF5	Facial asymmetry	HP:0000324
8200	GDF5	Broad hallux	HP:0010055
8200	GDF5	Short phalanx of finger	HP:0009803
8200	GDF5	Short middle phalanx of the 4th finger	HP:0009295
8200	GDF5	Cone-shaped epiphysis	HP:0010579
8200	GDF5	2-3 toe syndactyly	HP:0004691
8200	GDF5	Valgus hand deformity	HP:0006228
8200	GDF5	Bowing of the long bones	HP:0006487
8200	GDF5	Scoliosis	HP:0002650
8200	GDF5	Flexion contracture	HP:0001371
8200	GDF5	Aplasia/Hypoplasia of the fibula	HP:0006492
8200	GDF5	Skeletal dysplasia	HP:0002652
8200	GDF5	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	HP:0009568
8200	GDF5	Limitation of joint mobility	HP:0001376
8200	GDF5	Aplasia/Hypoplasia of the patella	HP:0006498
8200	GDF5	Triangular shaped middle phalanx of the 2nd finger	HP:0009575
8200	GDF5	Short tibia	HP:0005736
8200	GDF5	Short middle phalanx of the 2nd finger	HP:0009577
8200	GDF5	Hip dysplasia	HP:0001385
8200	GDF5	Joint stiffness	HP:0001387
8200	GDF5	Enlarged epiphysis of the middle phalanx of the 3rd finger	HP:0009324
8200	GDF5	Clinodactyly of the 5th finger	HP:0004209
8200	GDF5	Triangular shaped proximal phalanx of the 2nd finger	HP:0009587
8200	GDF5	Triangular epiphysis of the middle phalanx of the 3rd finger	HP:0009331
8200	GDF5	Neurological speech impairment	HP:0002167
8200	GDF5	Cuboidal metacarpal	HP:0006011
8200	GDF5	Short middle phalanx of the 5th finger	HP:0004220
8200	GDF5	Short hallux	HP:0010109
8200	GDF5	Abnormally shaped carpal bones	HP:0006014
8200	GDF5	Aplastic/hypoplastic toenail	HP:0010624
8200	GDF5	Aplasia/Hypoplasia of the thumb	HP:0009601
8200	GDF5	Brachydactyly	HP:0001156
8200	GDF5	Vertebral fusion	HP:0002948
8200	GDF5	Enlarged epiphysis of the proximal phalanx of the 3rd finger	HP:0009349
8200	GDF5	Complete duplication of distal phalanx of the thumb	HP:0009606
8200	GDF5	Postaxial hand polydactyly	HP:0001162
8200	GDF5	Camptodactyly of finger	HP:0100490
8200	GDF5	Hip osteoarthritis	HP:0008843
8200	GDF5	Triangular epiphysis of the proximal phalanx of the 3rd finger	HP:0009356
8200	GDF5	Pes valgus	HP:0008081
8200	GDF5	Sarcoma	HP:0100242
8200	GDF5	Abnormal thumb morphology	HP:0001172
8200	GDF5	Conductive hearing impairment	HP:0000405
8200	GDF5	Sensorineural hearing impairment	HP:0000407
8200	GDF5	Short digit	HP:0011927
8200	GDF5	Hypersegmentation of proximal phalanx of third finger	HP:0011929
8200	GDF5	Short distal phalanx of finger	HP:0009882
8200	GDF5	Type A2 brachydactyly	HP:0009372
8200	GDF5	Hypodontia	HP:0000668
8200	GDF5	Type C brachydactyly	HP:0009373
8200	GDF5	Medially deviated second toe	HP:0008096
8200	GDF5	Short humerus	HP:0005792
8200	GDF5	Micromelia	HP:0002983
8200	GDF5	Hypoplasia of the radius	HP:0002984
8200	GDF5	Proximal symphalangism	HP:0100264
8200	GDF5	Disproportionate short-limb short stature	HP:0008873
8200	GDF5	Radial bowing	HP:0002986
8200	GDF5	Delayed eruption of teeth	HP:0000684
8200	GDF5	Aplasia/Hypoplasia of metatarsal bones	HP:0001964
8200	GDF5	Bilateral single transverse palmar creases	HP:0007598
8200	GDF5	Fibular aplasia	HP:0002990
8200	GDF5	Tarsal synostosis	HP:0008368
8200	GDF5	Abnormality of tibia morphology	HP:0002992
8200	GDF5	Distal symphalangism of hands	HP:0001204
8200	GDF5	Abnormality of the ulna	HP:0002997
8200	GDF5	Patellar dislocation	HP:0002999
8200	GDF5	Deformed tarsal bones	HP:0008119
8200	GDF5	Short palm	HP:0004279
8200	GDF5	Synostosis of carpal bones	HP:0005048
8200	GDF5	Severe short-limb dwarfism	HP:0008890
8200	GDF5	Single transverse palmar crease	HP:0000954
8200	GDF5	Short middle phalanx of finger	HP:0005819
8200	GDF5	Wide nose	HP:0000445
8200	GDF5	Cognitive impairment	HP:0100543
8200	GDF5	Narrow nasal bridge	HP:0000446
8200	GDF5	Delayed skeletal maturation	HP:0002750
8200	GDF5	Abnormality of the hip bone	HP:0003272
8200	GDF5	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	HP:0009161
8200	GDF5	Rhizomelia	HP:0008905
8200	GDF5	Pseudoepiphyses of the 3rd finger	HP:0009417
8200	GDF5	Polydactyly	HP:0010442
8200	GDF5	Malaligned carpal bone	HP:0006092
8200	GDF5	Hypoplasia of the ulna	HP:0003022
8200	GDF5	Broad metacarpals	HP:0001230
8200	GDF5	Abnormal fingernail morphology	HP:0001231
8200	GDF5	Abnormality of the ankles	HP:0003028
8200	GDF5	Stippling of the epiphysis of the distal phalanx of the thumb	HP:0009684
8200	GDF5	Finger syndactyly	HP:0006101
8200	GDF5	Proximal/middle symphalangism of 5th finger	HP:0009177
8200	GDF5	Triangular shaped middle phalanx of the 3rd finger	HP:0009436
8200	GDF5	Triangular shaped middle phalanx of the 5th finger	HP:0009182
8200	GDF5	Fibular hypoplasia	HP:0003038
8200	GDF5	Shortening of all middle phalanges of the fingers	HP:0006110
8200	GDF5	Short middle phalanx of the 3rd finger	HP:0009439
8200	GDF5	Humeroradial synostosis	HP:0003041
8200	GDF5	Talipes equinovarus	HP:0001762
8200	GDF5	Short stature	HP:0004322
8200	GDF5	Elbow dislocation	HP:0003042
8200	GDF5	Pes planus	HP:0001763
8200	GDF5	Finger symphalangism	HP:0009700
8200	GDF5	Strabismus	HP:0000486
8200	GDF5	Carpal synostosis	HP:0009702
8200	GDF5	Distal femoral bowing	HP:0005096
8200	GDF5	Talipes equinovalgus	HP:0001772
8200	GDF5	Short foot	HP:0001773
8200	GDF5	Bilateral talipes equinovarus	HP:0001776
8200	GDF5	Triangular shaped proximal phalanx of the 3rd finger	HP:0009456
8200	GDF5	Death in infancy	HP:0001522
8200	GDF5	Stillbirth	HP:0003826
8200	GDF5	Short 3rd finger	HP:0009461
8200	GDF5	Short metatarsal	HP:0010743
8200	GDF5	Ulnar deviation of the 3rd finger	HP:0009463
8200	GDF5	Metacarpophalangeal synostosis	HP:0005880
8200	GDF5	Ulnar deviation of the 2nd finger	HP:0009464
8200	GDF5	Ulnar deviation of finger	HP:0009465
8200	GDF5	Radial deviation of the 2nd finger	HP:0009467
8200	GDF5	Madelung deformity	HP:0003067
8200	GDF5	Elbow ankylosis	HP:0003070
8200	GDF5	Abnormal finger flexion creases	HP:0006143
90121	TSR2	Short stature	HP:0004322
90121	TSR2	Abnormality of the hand	HP:0001155
90121	TSR2	Microtia	HP:0008551
90121	TSR2	Depressed nasal ridge	HP:0000457
90121	TSR2	X-linked recessive inheritance	HP:0001419
90121	TSR2	Sparse eyelashes	HP:0000653
90121	TSR2	Downslanted palpebral fissures	HP:0000494
90121	TSR2	Abnormality of the genital system	HP:0000078
90121	TSR2	Cleft palate	HP:0000175
90121	TSR2	Abnormality of the urinary system	HP:0000079
90121	TSR2	Thick lower lip vermilion	HP:0000179
90121	TSR2	Macrocytic anemia	HP:0001972
90121	TSR2	Pallor	HP:0000980
90121	TSR2	Conductive hearing impairment	HP:0000405
90121	TSR2	Delayed puberty	HP:0000823
90121	TSR2	Midface retrusion	HP:0011800
90121	TSR2	Acute leukemia	HP:0002488
90121	TSR2	Fatigue	HP:0012378
90121	TSR2	Micrognathia	HP:0000347
90121	TSR2	Arrhythmia	HP:0011675
90121	TSR2	Migraine	HP:0002076
90121	TSR2	Short nose	HP:0003196
8204	NRIP1	Variable expressivity	HP:0003828
8204	NRIP1	Incomplete penetrance	HP:0003829
8204	NRIP1	Ectopic kidney	HP:0000086
8204	NRIP1	Renal cyst	HP:0000107
8204	NRIP1	Hydronephrosis	HP:0000126
16	AARS	Skeletal muscle atrophy	HP:0003202
16	AARS	Blepharospasm	HP:0000643
16	AARS	Areflexia	HP:0001284
16	AARS	Autosomal dominant inheritance	HP:0000006
16	AARS	Autosomal recessive inheritance	HP:0000007
16	AARS	Optic atrophy	HP:0000648
16	AARS	Generalized hypotonia	HP:0001290
16	AARS	Cerebral atrophy	HP:0002059
16	AARS	Hip dislocation	HP:0002827
16	AARS	Unsteady gait	HP:0002317
16	AARS	Rigidity	HP:0002063
16	AARS	Encephalopathy	HP:0001298
16	AARS	Peripheral axonal neuropathy	HP:0003477
16	AARS	Decreased fetal movement	HP:0001558
16	AARS	Sensorineural hearing impairment	HP:0000407
16	AARS	Chorea	HP:0002072
16	AARS	Distal muscle weakness	HP:0002460
16	AARS	Hypodontia	HP:0000668
16	AARS	Abnormal myelination	HP:0012447
16	AARS	Retinal degeneration	HP:0000546
16	AARS	Difficulty walking	HP:0002355
16	AARS	Dyskinesia	HP:0100660
16	AARS	Myoclonus	HP:0001336
16	AARS	Tremor	HP:0001337
16	AARS	Feeding difficulties	HP:0011968
16	AARS	Foot dorsiflexor weakness	HP:0009027
16	AARS	Epileptic encephalopathy	HP:0200134
16	AARS	Developmental regression	HP:0002376
16	AARS	Limb hypertonia	HP:0002509
16	AARS	Autism	HP:0000717
16	AARS	Status epilepticus	HP:0002133
16	AARS	Hypsarrhythmia	HP:0002521
16	AARS	High forehead	HP:0000348
16	AARS	EEG with multifocal slow activity	HP:0010844
16	AARS	Pes cavus	HP:0001761
16	AARS	Intellectual disability	HP:0001249
16	AARS	Short stature	HP:0004322
16	AARS	Seizures	HP:0001250
16	AARS	Ataxia	HP:0001251
16	AARS	Gastroesophageal reflux	HP:0002020
16	AARS	Failure to thrive	HP:0001508
16	AARS	Hammertoe	HP:0001765
16	AARS	CNS hypomyelination	HP:0003429
16	AARS	Peripheral neuropathy	HP:0009830
16	AARS	Decreased motor nerve conduction velocity	HP:0003431
16	AARS	Impulsivity	HP:0100710
16	AARS	Intrauterine growth retardation	HP:0001511
16	AARS	Spasticity	HP:0001257
16	AARS	Attention deficit hyperactivity disorder	HP:0007018
16	AARS	Downslanted palpebral fissures	HP:0000494
16	AARS	Delayed speech and language development	HP:0000750
16	AARS	Global developmental delay	HP:0001263
16	AARS	Hyporeflexia	HP:0001265
16	AARS	Variable expressivity	HP:0003828
16	AARS	Mental deterioration	HP:0001268
16	AARS	Poor head control	HP:0002421
16	AARS	Distal sensory impairment	HP:0002936
16	AARS	Abnormality of vision	HP:0000504
16	AARS	Abnormal corpus callosum morphology	HP:0001273
16	AARS	Congenital onset	HP:0003577
16	AARS	Microcephaly	HP:0000252
16	AARS	Ptosis	HP:0000508
16	AARS	Nystagmus	HP:0000639
18	ABAT	Tall stature	HP:0000098
18	ABAT	Seizures	HP:0001250
18	ABAT	Hyperreflexia	HP:0001347
18	ABAT	Lethargy	HP:0001254
18	ABAT	Autosomal recessive inheritance	HP:0000007
18	ABAT	Cerebellar hypoplasia	HP:0001321
18	ABAT	Death in childhood	HP:0003819
18	ABAT	Psychomotor retardation	HP:0025356
18	ABAT	Severe muscular hypotonia	HP:0006829
18	ABAT	Downslanted palpebral fissures	HP:0000494
18	ABAT	Leukodystrophy	HP:0002415
18	ABAT	Global developmental delay	HP:0001263
18	ABAT	High-pitched cry	HP:0025430
18	ABAT	Retrognathia	HP:0000278
18	ABAT	Agenesis of corpus callosum	HP:0001274
18	ABAT	Posterior fossa cyst	HP:0007291
19	ABCA1	Hepatomegaly	HP:0002240
19	ABCA1	EMG abnormality	HP:0003457
19	ABCA1	Carotid artery stenosis	HP:0100546
19	ABCA1	Syringomyelia	HP:0003396
19	ABCA1	Facial diplegia	HP:0001349
19	ABCA1	Autosomal dominant inheritance	HP:0000006
19	ABCA1	Autosomal recessive inheritance	HP:0000007
19	ABCA1	Cicatricial ectropion	HP:0025608
19	ABCA1	Hypocholesterolemia	HP:0003146
19	ABCA1	Impaired temperature sensation	HP:0010829
19	ABCA1	Coronary artery atherosclerosis	HP:0001677
19	ABCA1	Opacification of the corneal stroma	HP:0007759
19	ABCA1	Accelerated atherosclerosis	HP:0004943
19	ABCA1	Ectropion	HP:0000656
19	ABCA1	Splenomegaly	HP:0001744
19	ABCA1	Thrombocytopenia	HP:0001873
19	ABCA1	Nail dystrophy	HP:0008404
19	ABCA1	Peripheral axonal neuropathy	HP:0003477
19	ABCA1	Corneal opacity	HP:0007957
19	ABCA1	Hemiplegia/hemiparesis	HP:0004374
19	ABCA1	Peripheral demyelination	HP:0011096
19	ABCA1	Coronary artery stenosis	HP:0005145
19	ABCA1	Hepatosplenomegaly	HP:0001433
19	ABCA1	Lymphadenopathy	HP:0002716
19	ABCA1	Distal muscle weakness	HP:0002460
19	ABCA1	Progressive peripheral neuropathy	HP:0007133
19	ABCA1	Orange discoloured tonsils	HP:0030814
19	ABCA1	Xanthomatosis	HP:0000991
19	ABCA1	Impaired pain sensation	HP:0007328
19	ABCA1	Decreased HDL cholesterol concentration	HP:0003233
19	ABCA1	Chronic noninfectious lymphadenopathy	HP:0002730
19	ABCA1	Hypertriglyceridemia	HP:0002155
19	ABCA1	Abdominal pain	HP:0002027
19	ABCA1	Distal amyotrophy	HP:0003693
19	ABCA1	Blurred vision	HP:0000622
19	ABCA1	Anemia	HP:0001903
19	ABCA1	Left ventricular hypertrophy	HP:0001712
19	ABCA1	Abnormality of the liver	HP:0001392
19	ABCA1	Hyporeflexia	HP:0001265
19	ABCA1	Nail dysplasia	HP:0002164
19	ABCA1	Impaired thermal sensitivity	HP:0006901
19	ABCA1	Visual impairment	HP:0000505
19	ABCA1	Myocardial infarction	HP:0001658
19	ABCA1	Premature coronary artery atherosclerosis	HP:0005181
19	ABCA1	Dry skin	HP:0000958
21	ABCA3	Gastroesophageal reflux	HP:0002020
21	ABCA3	Failure to thrive	HP:0001508
21	ABCA3	Tachypnea	HP:0002789
21	ABCA3	Autosomal recessive inheritance	HP:0000007
21	ABCA3	Pulmonary insufficiency	HP:0010444
21	ABCA3	Crackles	HP:0030830
21	ABCA3	Reticular pattern on pulmonary HRCT	HP:0025390
21	ABCA3	Heterogeneous	HP:0001425
21	ABCA3	Respiratory distress	HP:0002098
21	ABCA3	Alveolar proteinosis	HP:0006517
21	ABCA3	Clubbing of fingers	HP:0100759
21	ABCA3	Desquamative interstitial pneumonitis	HP:0005942
21	ABCA3	Honeycomb lung	HP:0025175
21	ABCA3	Apnea	HP:0002104
21	ABCA3	Congenital onset	HP:0003577
21	ABCA3	Ground-glass opacification on pulmonary HRCT	HP:0025179
21	ABCA3	Exertional dyspnea	HP:0002875
21	ABCA3	Pulmonary fibrosis	HP:0002206
21	ABCA3	Bronchiectasis	HP:0002110
21	ABCA3	Respiratory failure	HP:0002878
21	ABCA3	Cough	HP:0012735
22	ABCB7	Intention tremor	HP:0002080
22	ABCB7	Hyperreflexia	HP:0001347
22	ABCB7	Ataxia	HP:0001251
22	ABCB7	Sideroblastic anemia	HP:0001924
22	ABCB7	Muscular hypotonia	HP:0001252
22	ABCB7	Juvenile onset	HP:0003621
22	ABCB7	Nonprogressive cerebellar ataxia	HP:0002470
22	ABCB7	Strabismus	HP:0000486
22	ABCB7	Intrauterine growth retardation	HP:0001511
22	ABCB7	Hypochromic microcytic anemia	HP:0004840
22	ABCB7	X-linked recessive inheritance	HP:0001419
22	ABCB7	Dysarthria	HP:0001260
22	ABCB7	Global developmental delay	HP:0001263
22	ABCB7	Anemia	HP:0001903
22	ABCB7	Abnormality of metabolism/homeostasis	HP:0001939
22	ABCB7	Neurological speech impairment	HP:0002167
22	ABCB7	Clonus	HP:0002169
22	ABCB7	Scoliosis	HP:0002650
22	ABCB7	Dysdiadochokinesis	HP:0002075
22	ABCB7	Dysmetria	HP:0001310
22	ABCB7	Babinski sign	HP:0003487
22	ABCB7	Nystagmus	HP:0000639
8214	DGCR6	Umbilical hernia	HP:0001537
8214	DGCR6	Open mouth	HP:0000194
8214	DGCR6	Abnormality of the hand	HP:0001155
8214	DGCR6	Right aortic arch with mirror image branching	HP:0002627
8214	DGCR6	Blepharophimosis	HP:0000581
8214	DGCR6	Autosomal dominant inheritance	HP:0000006
8214	DGCR6	Double aortic arch	HP:0011590
8214	DGCR6	Pulmonary artery atresia	HP:0004935
8214	DGCR6	Pierre-Robin sequence	HP:0000201
8214	DGCR6	Nasal speech	HP:0001611
8214	DGCR6	Aggressive behavior	HP:0000718
8214	DGCR6	Mood swings	HP:0000720
8214	DGCR6	Hypocalcemia	HP:0002901
8214	DGCR6	Unilateral primary pulmonary dysgenesis	HP:0006549
8214	DGCR6	Abnormality of the ear	HP:0000598
8214	DGCR6	Retrognathia	HP:0000278
8214	DGCR6	Inguinal hernia	HP:0000023
8214	DGCR6	Interrupted aortic arch	HP:0011611
8214	DGCR6	Talipes	HP:0001883
8214	DGCR6	Cryptorchidism	HP:0000028
8214	DGCR6	Velopharyngeal insufficiency	HP:0000220
8214	DGCR6	Ventricular septal defect	HP:0001629
8214	DGCR6	Bulbous nose	HP:0000414
8214	DGCR6	Paranoia	HP:0011999
8214	DGCR6	Recurrent infections	HP:0002719
8214	DGCR6	Intellectual disability	HP:0001249
8214	DGCR6	Narrow palpebral fissure	HP:0045025
8214	DGCR6	Short stature	HP:0004322
8214	DGCR6	Tetralogy of Fallot	HP:0001636
8214	DGCR6	Muscular hypotonia	HP:0001252
8214	DGCR6	Retinal vascular tortuosity	HP:0012841
8214	DGCR6	Underdeveloped nasal alae	HP:0000430
8214	DGCR6	Submucous cleft hard palate	HP:0000176
8214	DGCR6	Specific learning disability	HP:0001328
8214	DGCR6	Posterior embryotoxon	HP:0000627
8214	DGCR6	Impaired T cell function	HP:0005435
8214	DGCR6	Microcephaly	HP:0000252
8214	DGCR6	Hypoparathyroidism	HP:0000829
139285	AMER1	Macrocephaly	HP:0000256
139285	AMER1	Joint contracture of the hand	HP:0009473
139285	AMER1	Multicystic kidney dysplasia	HP:0000003
139285	AMER1	Omphalocele	HP:0001539
139285	AMER1	Cataract	HP:0000518
139285	AMER1	Intestinal malrotation	HP:0002566
139285	AMER1	Generalized hypotonia	HP:0001290
139285	AMER1	Headache	HP:0002315
139285	AMER1	Delayed cranial suture closure	HP:0000270
139285	AMER1	Asymmetry of the thorax	HP:0001555
139285	AMER1	Retrognathia	HP:0000278
139285	AMER1	Polyhydramnios	HP:0001561
139285	AMER1	Oligohydramnios	HP:0001562
139285	AMER1	Epicanthus	HP:0000286
139285	AMER1	Echolalia	HP:0010529
139285	AMER1	Specific learning disability	HP:0001328
139285	AMER1	Dysphasia	HP:0002357
139285	AMER1	Apnea	HP:0002104
139285	AMER1	Partial agenesis of the corpus callosum	HP:0001338
139285	AMER1	Hypertelorism	HP:0000316
139285	AMER1	Laryngeal web	HP:0005950
139285	AMER1	Rough bone trabeculation	HP:0100670
139285	AMER1	Nasal speech	HP:0001611
139285	AMER1	Aphasia	HP:0002381
139285	AMER1	Flat face	HP:0012368
139285	AMER1	Narrow forehead	HP:0000341
139285	AMER1	Craniofacial osteosclerosis	HP:0005464
139285	AMER1	Facial hyperostosis	HP:0005465
139285	AMER1	Scoliosis	HP:0002650
139285	AMER1	Micrognathia	HP:0000347
139285	AMER1	Flat occiput	HP:0005469
139285	AMER1	Ventricular septal defect	HP:0001629
139285	AMER1	Atrial septal defect	HP:0001631
139285	AMER1	Camptodactyly	HP:0012385
139285	AMER1	Posteriorly rotated ears	HP:0000358
139285	AMER1	Microtia	HP:0008551
139285	AMER1	High iliac wings	HP:0008808
139285	AMER1	Patent ductus arteriosus	HP:0001643
139285	AMER1	Low-set ears	HP:0000369
139285	AMER1	Clinodactyly of the 5th finger	HP:0004209
139285	AMER1	Aortic valve stenosis	HP:0001650
139285	AMER1	Large iliac wings	HP:0008818
139285	AMER1	Broad ribs	HP:0000885
139285	AMER1	Thickened calvaria	HP:0002684
139285	AMER1	Paranasal sinus hypoplasia	HP:0006784
139285	AMER1	Facial palsy	HP:0010628
139285	AMER1	Sclerosis of skull base	HP:0002694
139285	AMER1	Overfolded helix	HP:0000396
139285	AMER1	Arachnodactyly	HP:0001166
139285	AMER1	X-linked dominant inheritance	HP:0001423
139285	AMER1	Coarctation of aorta	HP:0001680
139285	AMER1	High, narrow palate	HP:0002705
139285	AMER1	Conductive hearing impairment	HP:0000405
139285	AMER1	Dental crowding	HP:0000678
139285	AMER1	Delayed eruption of teeth	HP:0000684
139285	AMER1	Fibular aplasia	HP:0002990
139285	AMER1	Wide nasal bridge	HP:0000431
139285	AMER1	Cleft palate	HP:0000175
139285	AMER1	Abnormality of the metaphysis	HP:0000944
139285	AMER1	Submucous cleft hard palate	HP:0000176
139285	AMER1	Dental malocclusion	HP:0000689
139285	AMER1	Thick lower lip vermilion	HP:0000179
139285	AMER1	Severe short stature	HP:0003510
139285	AMER1	Natal tooth	HP:0000695
139285	AMER1	Straight clavicles	HP:0006587
139285	AMER1	Bifid uvula	HP:0000193
139285	AMER1	Delayed closure of the anterior fontanelle	HP:0001476
139285	AMER1	Flexion contracture of toe	HP:0005830
139285	AMER1	Pierre-Robin sequence	HP:0000201
139285	AMER1	Cleft upper lip	HP:0000204
139285	AMER1	Webbed neck	HP:0000465
139285	AMER1	Cerebral calcification	HP:0002514
139285	AMER1	Wide intermamillary distance	HP:0006610
139285	AMER1	Prominent forehead	HP:0011220
139285	AMER1	Frontal bossing	HP:0002007
139285	AMER1	High palate	HP:0000218
139285	AMER1	Tracheomalacia	HP:0002779
139285	AMER1	Fibular hypoplasia	HP:0003038
139285	AMER1	Intellectual disability	HP:0001249
139285	AMER1	Spina bifida occulta	HP:0003298
139285	AMER1	Seizures	HP:0001250
139285	AMER1	Short stature	HP:0004322
139285	AMER1	Talipes equinovarus	HP:0001762
139285	AMER1	Gastroesophageal reflux	HP:0002020
139285	AMER1	Failure to thrive	HP:0001508
139285	AMER1	Anal atresia	HP:0002023
139285	AMER1	Intellectual disability, mild	HP:0001256
139285	AMER1	Anal stenosis	HP:0002025
139285	AMER1	Hyperlordosis	HP:0003307
139285	AMER1	Delayed speech and language development	HP:0000750
139285	AMER1	Hydrocephalus	HP:0000238
139285	AMER1	Global developmental delay	HP:0001263
139285	AMER1	Large fontanelles	HP:0000239
139285	AMER1	Thoracolumbar kyphosis	HP:0005619
139285	AMER1	Osteopathia striata	HP:0010740
139285	AMER1	Brachycephaly	HP:0000248
139285	AMER1	Osteopetrosis	HP:0011002
139285	AMER1	Mutism	HP:0002300
139285	AMER1	Pectus excavatum	HP:0000767
24	ABCA4	Abnormal electroretinogram	HP:0000512
24	ABCA4	Retinal pigment epithelial mottling	HP:0007814
24	ABCA4	Autosomal dominant inheritance	HP:0000006
24	ABCA4	Cataract	HP:0000518
24	ABCA4	Autosomal recessive inheritance	HP:0000007
24	ABCA4	Hypogonadism	HP:0000135
24	ABCA4	Optic atrophy	HP:0000648
24	ABCA4	Abnormality of visual evoked potentials	HP:0000649
24	ABCA4	X-linked recessive inheritance	HP:0001419
24	ABCA4	Conductive hearing impairment	HP:0000405
24	ABCA4	Nyctalopia	HP:0000662
24	ABCA4	Abnormality of retinal pigmentation	HP:0007703
24	ABCA4	Sensorineural hearing impairment	HP:0000407
24	ABCA4	Paroxysmal involuntary eye movements	HP:0007704
24	ABCA4	Optic disc pallor	HP:0000543
24	ABCA4	Hypoplasia of penis	HP:0008736
24	ABCA4	Abnormal testis morphology	HP:0000035
24	ABCA4	Attenuation of retinal blood vessels	HP:0007843
24	ABCA4	Yellow/white lesions of the macula	HP:0030500
24	ABCA4	Cone/cone-rod dystrophy	HP:0000548
24	ABCA4	Color vision defect	HP:0000551
24	ABCA4	Retinal pigment epithelial atrophy	HP:0007722
24	ABCA4	Wide nasal bridge	HP:0000431
24	ABCA4	Keratoconus	HP:0000563
24	ABCA4	Bone spicule pigmentation of the retina	HP:0007737
24	ABCA4	Visual loss	HP:0000572
24	ABCA4	Abnormality of macular pigmentation	HP:0008002
24	ABCA4	Hyperreflexia	HP:0001347
24	ABCA4	Hyperinsulinemia	HP:0000842
24	ABCA4	Anteverted nares	HP:0000463
24	ABCA4	Ophthalmoplegia	HP:0000602
24	ABCA4	Type II diabetes mellitus	HP:0005978
24	ABCA4	Central scotoma	HP:0000603
24	ABCA4	Atypical scarring of skin	HP:0000987
24	ABCA4	Macular degeneration	HP:0000608
24	ABCA4	Intellectual disability	HP:0001249
24	ABCA4	Abnormal choroid morphology	HP:0000610
24	ABCA4	Retinitis pigmentosa inversa	HP:0008035
24	ABCA4	Photophobia	HP:0000613
24	ABCA4	Obesity	HP:0001513
24	ABCA4	Blindness	HP:0000618
24	ABCA4	Abnormal foveal morphology	HP:0000493
24	ABCA4	Constriction of peripheral visual field	HP:0001133
24	ABCA4	Abnormal retinal vascular morphology	HP:0008046
24	ABCA4	Reduced visual acuity	HP:0007663
24	ABCA4	Bull's eye maculopathy	HP:0011504
24	ABCA4	Glaucoma	HP:0000501
24	ABCA4	Retinal thinning	HP:0030329
24	ABCA4	Visual impairment	HP:0000505
24	ABCA4	Aplasia/Hypoplasia of the macula	HP:0008059
24	ABCA4	Progressive night blindness	HP:0007675
24	ABCA4	Rod-cone dystrophy	HP:0000510
24	ABCA4	Nystagmus	HP:0000639
8216	LZTR1	Pectus carinatum	HP:0000768
8216	LZTR1	Brachydactyly	HP:0001156
8216	LZTR1	Autosomal dominant inheritance	HP:0000006
8216	LZTR1	Thickened helices	HP:0000391
8216	LZTR1	Abnormal cardiac septum morphology	HP:0001671
8216	LZTR1	Proptosis	HP:0000520
8216	LZTR1	Abnormality of coagulation	HP:0001928
8216	LZTR1	Enlarged thorax	HP:0100625
8216	LZTR1	Coarctation of aorta	HP:0001680
8216	LZTR1	Sensorineural hearing impairment	HP:0000407
8216	LZTR1	Sparse and thin eyebrow	HP:0000535
8216	LZTR1	Midface retrusion	HP:0011800
8216	LZTR1	Arrhythmia	HP:0011675
8216	LZTR1	Cryptorchidism	HP:0000028
8216	LZTR1	Radioulnar synostosis	HP:0002974
8216	LZTR1	Coarse hair	HP:0002208
8216	LZTR1	Curly hair	HP:0002212
8216	LZTR1	Feeding difficulties in infancy	HP:0008872
8216	LZTR1	Hypogonadotrophic hypogonadism	HP:0000044
8216	LZTR1	Muscle weakness	HP:0001324
8216	LZTR1	Thick lower lip vermilion	HP:0000179
8216	LZTR1	Abnormal dermatoglyphics	HP:0007477
8216	LZTR1	Mitral stenosis	HP:0001718
8216	LZTR1	Hypertelorism	HP:0000316
8216	LZTR1	Joint hyperflexibility	HP:0005692
8216	LZTR1	Delayed skeletal maturation	HP:0002750
8216	LZTR1	Pulmonary artery stenosis	HP:0004415
8216	LZTR1	Hepatomegaly	HP:0002240
8216	LZTR1	Triangular face	HP:0000325
8216	LZTR1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
8216	LZTR1	Abnormality of the spleen	HP:0001743
8216	LZTR1	Webbed neck	HP:0000465
8216	LZTR1	Wide intermamillary distance	HP:0006610
8216	LZTR1	Short neck	HP:0000470
8216	LZTR1	Scoliosis	HP:0002650
8216	LZTR1	Thickened nuchal skin fold	HP:0000474
8216	LZTR1	High palate	HP:0000218
8216	LZTR1	Micrognathia	HP:0000347
8216	LZTR1	Cystic hygroma	HP:0000476
8216	LZTR1	High forehead	HP:0000348
8216	LZTR1	Abnormal platelet function	HP:0011869
8216	LZTR1	Short stature	HP:0004322
8216	LZTR1	Abnormal hair quantity	HP:0011362
8216	LZTR1	Melanocytic nevus	HP:0000995
8216	LZTR1	Abnormal bleeding	HP:0001892
8216	LZTR1	Muscular hypotonia	HP:0001252
8216	LZTR1	Strabismus	HP:0000486
8216	LZTR1	Abnormal pulmonary valve morphology	HP:0001641
8216	LZTR1	Pulmonic stenosis	HP:0001642
8216	LZTR1	Dysarthria	HP:0001260
8216	LZTR1	Lymphedema	HP:0001004
8216	LZTR1	Downslanted palpebral fissures	HP:0000494
8216	LZTR1	Low-set, posteriorly rotated ears	HP:0000368
8216	LZTR1	Clinodactyly of the 5th finger	HP:0004209
8216	LZTR1	Low posterior hairline	HP:0002162
8216	LZTR1	Aplasia of the semicircular canal	HP:0011381
8216	LZTR1	Ptosis	HP:0000508
8216	LZTR1	Abnormality of the sternum	HP:0000766
8216	LZTR1	Pectus excavatum	HP:0000767
8216	LZTR1	Nystagmus	HP:0000639
25	ABL1	Thin skin	HP:0000963
25	ABL1	Cutis marmorata	HP:0000965
25	ABL1	Intestinal malrotation	HP:0002566
25	ABL1	Short chin	HP:0000331
25	ABL1	Narrow nose	HP:0000460
25	ABL1	Arachnodactyly	HP:0001166
25	ABL1	Splenomegaly	HP:0001744
25	ABL1	Coarctation of aorta	HP:0001680
25	ABL1	Thrombocytopenia	HP:0001873
25	ABL1	Soft skin	HP:0000977
25	ABL1	Broad forehead	HP:0000337
25	ABL1	Finger clinodactyly	HP:0040019
25	ABL1	Fever	HP:0001945
25	ABL1	Fatigue	HP:0012378
25	ABL1	Narrow maxilla	HP:0002010
25	ABL1	Ventricular septal defect	HP:0001629
25	ABL1	Carious teeth	HP:0000670
25	ABL1	Atrial septal defect	HP:0001631
25	ABL1	Camptodactyly	HP:0012385
25	ABL1	Constipation	HP:0002019
25	ABL1	Failure to thrive	HP:0001508
25	ABL1	Thrombocytosis	HP:0001894
25	ABL1	Dental crowding	HP:0000678
25	ABL1	Intrauterine growth retardation	HP:0001511
25	ABL1	Anal atresia	HP:0002023
25	ABL1	Myeloproliferative disorder	HP:0005547
25	ABL1	Poor appetite	HP:0004396
25	ABL1	Pointed chin	HP:0000307
25	ABL1	Long nose	HP:0003189
25	ABL1	Leukocytosis	HP:0001974
25	ABL1	Abnormal basophil morphology	HP:0001912
25	ABL1	Short nose	HP:0003196
8220	ESS2	Umbilical hernia	HP:0001537
8220	ESS2	Open mouth	HP:0000194
8220	ESS2	Abnormality of the hand	HP:0001155
8220	ESS2	Right aortic arch with mirror image branching	HP:0002627
8220	ESS2	Blepharophimosis	HP:0000581
8220	ESS2	Autosomal dominant inheritance	HP:0000006
8220	ESS2	Double aortic arch	HP:0011590
8220	ESS2	Pulmonary artery atresia	HP:0004935
8220	ESS2	Pierre-Robin sequence	HP:0000201
8220	ESS2	Nasal speech	HP:0001611
8220	ESS2	Aggressive behavior	HP:0000718
8220	ESS2	Mood swings	HP:0000720
8220	ESS2	Hypocalcemia	HP:0002901
8220	ESS2	Unilateral primary pulmonary dysgenesis	HP:0006549
8220	ESS2	Abnormality of the ear	HP:0000598
8220	ESS2	Retrognathia	HP:0000278
8220	ESS2	Inguinal hernia	HP:0000023
8220	ESS2	Interrupted aortic arch	HP:0011611
8220	ESS2	Talipes	HP:0001883
8220	ESS2	Cryptorchidism	HP:0000028
8220	ESS2	Velopharyngeal insufficiency	HP:0000220
8220	ESS2	Ventricular septal defect	HP:0001629
8220	ESS2	Bulbous nose	HP:0000414
8220	ESS2	Paranoia	HP:0011999
8220	ESS2	Recurrent infections	HP:0002719
8220	ESS2	Intellectual disability	HP:0001249
8220	ESS2	Narrow palpebral fissure	HP:0045025
8220	ESS2	Short stature	HP:0004322
8220	ESS2	Tetralogy of Fallot	HP:0001636
8220	ESS2	Muscular hypotonia	HP:0001252
8220	ESS2	Retinal vascular tortuosity	HP:0012841
8220	ESS2	Underdeveloped nasal alae	HP:0000430
8220	ESS2	Submucous cleft hard palate	HP:0000176
8220	ESS2	Specific learning disability	HP:0001328
8220	ESS2	Posterior embryotoxon	HP:0000627
8220	ESS2	Impaired T cell function	HP:0005435
8220	ESS2	Microcephaly	HP:0000252
8220	ESS2	Hypoparathyroidism	HP:0000829
31	ACACA	Growth delay	HP:0001510
31	ACACA	Autosomal recessive inheritance	HP:0000007
31	ACACA	Generalized hypotonia	HP:0001290
31	ACACA	Myopathy	HP:0003198
33	ACADL	Hepatomegaly	HP:0002240
33	ACADL	Feeding difficulties	HP:0011968
33	ACADL	EMG: myopathic abnormalities	HP:0003458
33	ACADL	Hyperammonemia	HP:0001987
33	ACADL	Generalized hypotonia	HP:0001290
33	ACADL	Elevated creatine kinase after exercise	HP:0008331
33	ACADL	Atrial flutter	HP:0004749
33	ACADL	Dicarboxylic aciduria	HP:0003215
33	ACADL	Fatigable weakness	HP:0003473
33	ACADL	Mild expressive language delay	HP:0011346
33	ACADL	Exercise-induced rhabdomyolysis	HP:0009045
33	ACADL	Decreased activity of 3-hydroxyacyl-CoA dehydrogenase	HP:0100950
33	ACADL	Autistic behavior	HP:0000729
33	ACADL	Vomiting	HP:0002013
33	ACADL	Muscle stiffness	HP:0003552
33	ACADL	Decreased plasma carnitine	HP:0003234
33	ACADL	Tachypnea	HP:0002789
33	ACADL	Nonketotic hypoglycemia	HP:0001958
33	ACADL	Lethargy	HP:0001254
33	ACADL	Hypertrophic cardiomyopathy	HP:0001639
33	ACADL	Sudden cardiac death	HP:0001645
33	ACADL	Exercise-induced myoglobinuria	HP:0008305
33	ACADL	Prolonged neonatal jaundice	HP:0006579
33	ACADL	Hepatic steatosis	HP:0001397
33	ACADL	Prolonged QT interval	HP:0001657
33	ACADL	Hepatocellular necrosis	HP:0001404
33	ACADL	Generalized muscle weakness	HP:0003324
33	ACADL	Hypothermia	HP:0002045
33	ACADL	Myalgia	HP:0003326
34	ACADM	Hepatomegaly	HP:0002240
34	ACADM	Decreased plasma carnitine	HP:0003234
34	ACADM	Seizures	HP:0001250
34	ACADM	Muscular hypotonia	HP:0001252
34	ACADM	Hyperglycinuria	HP:0003108
34	ACADM	Cerebral edema	HP:0002181
34	ACADM	Lethargy	HP:0001254
34	ACADM	Autosomal recessive inheritance	HP:0000007
34	ACADM	Generalized hypotonia	HP:0001290
34	ACADM	Coma	HP:0001259
34	ACADM	Global developmental delay	HP:0001263
34	ACADM	Medium chain dicarboxylic aciduria	HP:0008309
34	ACADM	Hepatic steatosis	HP:0001397
34	ACADM	Metabolic acidosis	HP:0001942
34	ACADM	Hypoglycemia	HP:0001943
34	ACADM	Vomiting	HP:0002013
34	ACADM	Elevated hepatic transaminase	HP:0002910
57379	AICDA	Decreased circulating IgA level	HP:0002720
57379	AICDA	Immunodeficiency	HP:0002721
57379	AICDA	Recurrent upper and lower respiratory tract infections	HP:0200117
57379	AICDA	Autosomal recessive inheritance	HP:0000007
57379	AICDA	Decreased circulating IgG level	HP:0004315
57379	AICDA	Lymphadenopathy	HP:0002716
57379	AICDA	Recurrent bacterial infections	HP:0002718
57379	AICDA	Recurrent infection of the gastrointestinal tract	HP:0004798
57379	AICDA	Impaired Ig class switch recombination	HP:0002959
35	ACADS	Seizures	HP:0001250
35	ACADS	Muscular hypotonia	HP:0001252
35	ACADS	Failure to thrive	HP:0001508
35	ACADS	Facial palsy	HP:0010628
35	ACADS	Abnormality of the cerebral white matter	HP:0002500
35	ACADS	Psychosis	HP:0000709
35	ACADS	Lethargy	HP:0001254
35	ACADS	Cardiomyopathy	HP:0001638
35	ACADS	Neonatal onset	HP:0003623
35	ACADS	Autosomal recessive inheritance	HP:0000007
35	ACADS	Feeding difficulties in infancy	HP:0008872
35	ACADS	Generalized hypotonia	HP:0001290
35	ACADS	Progressive external ophthalmoplegia	HP:0000590
35	ACADS	Delayed speech and language development	HP:0000750
35	ACADS	Global developmental delay	HP:0001263
35	ACADS	Episodic metabolic acidosis	HP:0004911
35	ACADS	Ethylmalonic aciduria	HP:0003219
35	ACADS	Scoliosis	HP:0002650
35	ACADS	Flexion contracture	HP:0001371
35	ACADS	Myopathy	HP:0003198
36	ACADSB	Exotropia	HP:0000577
36	ACADSB	Seizures	HP:0001250
36	ACADSB	Muscular hypotonia	HP:0001252
36	ACADSB	Lethargy	HP:0001254
36	ACADSB	Autosomal recessive inheritance	HP:0000007
36	ACADSB	Infantile onset	HP:0003593
36	ACADSB	Generalized hypotonia	HP:0001290
36	ACADSB	Global developmental delay	HP:0001263
36	ACADSB	Generalized amyotrophy	HP:0003700
36	ACADSB	Motor delay	HP:0001270
36	ACADSB	Hypoglycemia	HP:0001943
36	ACADSB	Microcephaly	HP:0000252
36	ACADSB	Hypothermia	HP:0002045
36	ACADSB	Apneic episodes in infancy	HP:0005949
147495	APCDD1	Sparse pubic hair	HP:0002225
147495	APCDD1	Sparse eyebrow	HP:0045075
147495	APCDD1	Autosomal dominant inheritance	HP:0000006
147495	APCDD1	Sparse and thin eyebrow	HP:0000535
147495	APCDD1	Sparse body hair	HP:0002231
147495	APCDD1	Autosomal recessive inheritance	HP:0000007
147495	APCDD1	Sparse axillary hair	HP:0002215
147495	APCDD1	Alopecia	HP:0001596
147495	APCDD1	Sparse eyelashes	HP:0000653
147495	APCDD1	Hypotrichosis of the scalp	HP:0004782
147495	APCDD1	Hypotrichosis	HP:0001006
37	ACADVL	Muscle stiffness	HP:0003552
37	ACADVL	Hepatomegaly	HP:0002240
37	ACADVL	Decreased plasma carnitine	HP:0003234
37	ACADVL	Elevated serum creatine kinase	HP:0003236
37	ACADVL	Muscular hypotonia	HP:0001252
37	ACADVL	Tachypnea	HP:0002789
37	ACADVL	Nonketotic hypoglycemia	HP:0001958
37	ACADVL	Lethargy	HP:0001254
37	ACADVL	Hypertrophic cardiomyopathy	HP:0001639
37	ACADVL	Autosomal recessive inheritance	HP:0000007
37	ACADVL	Generalized hypotonia	HP:0001290
37	ACADVL	Muscle weakness	HP:0001324
37	ACADVL	Sudden cardiac death	HP:0001645
37	ACADVL	Dicarboxylic aciduria	HP:0003215
37	ACADVL	Exercise-induced myoglobinuria	HP:0008305
37	ACADVL	Hepatic steatosis	HP:0001397
37	ACADVL	Exercise-induced rhabdomyolysis	HP:0009045
37	ACADVL	Exercise-induced myalgia	HP:0003738
37	ACADVL	Hepatocellular necrosis	HP:0001404
37	ACADVL	Vomiting	HP:0002013
38	ACAT1	Intellectual disability	HP:0001249
38	ACAT1	Episodic ketoacidosis	HP:0005974
38	ACAT1	Autosomal recessive inheritance	HP:0000007
38	ACAT1	Dehydration	HP:0001944
38	ACAT1	Vomiting	HP:0002013
39	ACAT2	Sporadic	HP:0003745
39	ACAT2	Increased serum pyruvate	HP:0003542
39	ACAT2	Increased serum lactate	HP:0002151
39	ACAT2	Chorea	HP:0002072
39	ACAT2	Generalized hypotonia	HP:0001290
39	ACAT2	Global developmental delay	HP:0001263
131118	DNAJC19	Postnatal growth retardation	HP:0008897
131118	DNAJC19	Microvesicular hepatic steatosis	HP:0001414
131118	DNAJC19	Atrophy/Degeneration affecting the brainstem	HP:0007366
131118	DNAJC19	Autosomal recessive inheritance	HP:0000007
131118	DNAJC19	Optic atrophy	HP:0000648
131118	DNAJC19	Developmental regression	HP:0002376
131118	DNAJC19	Glutaric acidemia	HP:0003530
131118	DNAJC19	Lower limb spasticity	HP:0002061
131118	DNAJC19	Glutaric aciduria	HP:0003150
131118	DNAJC19	Neonatal hypoglycemia	HP:0001998
131118	DNAJC19	3-Methylglutaconic aciduria	HP:0003535
131118	DNAJC19	Abnormal facial shape	HP:0001999
131118	DNAJC19	3-Methylglutaric aciduria	HP:0003344
131118	DNAJC19	Noncompaction cardiomyopathy	HP:0012817
131118	DNAJC19	Delayed gross motor development	HP:0002194
131118	DNAJC19	Diaphragmatic eventration	HP:0009110
131118	DNAJC19	Cryptorchidism	HP:0000028
131118	DNAJC19	Decreased testicular size	HP:0008734
131118	DNAJC19	Elevated hepatic transaminase	HP:0002910
131118	DNAJC19	Arachnoid cyst	HP:0100702
131118	DNAJC19	Hypoplasia of penis	HP:0008736
131118	DNAJC19	Intellectual disability	HP:0001249
131118	DNAJC19	Seizures	HP:0001250
131118	DNAJC19	Congestive heart failure	HP:0001635
131118	DNAJC19	Ataxia	HP:0001251
131118	DNAJC19	Nonprogressive cerebellar ataxia	HP:0002470
131118	DNAJC19	Intrauterine growth retardation	HP:0001511
131118	DNAJC19	Increased serum lactate	HP:0002151
131118	DNAJC19	Neonatal hypotonia	HP:0001319
131118	DNAJC19	Muscular ventricular septal defect	HP:0011623
131118	DNAJC19	Hypochromic microcytic anemia	HP:0004840
131118	DNAJC19	Action tremor	HP:0002345
131118	DNAJC19	Bilateral basal ganglia lesions	HP:0007146
131118	DNAJC19	Bilateral sensorineural hearing impairment	HP:0008619
131118	DNAJC19	Muscle weakness	HP:0001324
131118	DNAJC19	Dilated cardiomyopathy	HP:0001644
131118	DNAJC19	Sudden cardiac death	HP:0001645
131118	DNAJC19	Hypospadias	HP:0000047
131118	DNAJC19	Bilateral cryptorchidism	HP:0008689
131118	DNAJC19	Perineal hypospadias	HP:0000051
131118	DNAJC19	Dystonia	HP:0001332
131118	DNAJC19	Generalized amyotrophy	HP:0003700
131118	DNAJC19	Dyskinesia	HP:0100660
131118	DNAJC19	Hypothyroidism	HP:0000821
131118	DNAJC19	Normochromic microcytic anemia	HP:0004856
131118	DNAJC19	Prolonged QT interval	HP:0001657
131118	DNAJC19	Repetitive compulsive behavior	HP:0008762
8239	USP9X	Cataract	HP:0000518
8239	USP9X	Generalized hypotonia	HP:0001290
8239	USP9X	X-linked recessive inheritance	HP:0001419
8239	USP9X	Hip dislocation	HP:0002827
8239	USP9X	Unilateral breast hypoplasia	HP:0012813
8239	USP9X	X-linked dominant inheritance	HP:0001423
8239	USP9X	Dandy-Walker malformation	HP:0001305
8239	USP9X	Hypermetropia	HP:0000540
8239	USP9X	Recurrent respiratory infections	HP:0002205
8239	USP9X	Bulbous nose	HP:0000414
8239	USP9X	Tapered finger	HP:0001182
8239	USP9X	Hypoplasia of the corpus callosum	HP:0002079
8239	USP9X	Depressed nasal bridge	HP:0005280
8239	USP9X	Myopia	HP:0000545
8239	USP9X	Postaxial polydactyly	HP:0100259
8239	USP9X	Abnormality of the dentition	HP:0000164
8239	USP9X	Broad thumb	HP:0011304
8239	USP9X	Cerebellar hypoplasia	HP:0001321
8239	USP9X	Cleft palate	HP:0000175
8239	USP9X	Wide nasal bridge	HP:0000431
8239	USP9X	Respiratory distress	HP:0002098
8239	USP9X	Smooth philtrum	HP:0000319
8239	USP9X	Sacral dimple	HP:0000960
8239	USP9X	Prominent nose	HP:0000448
8239	USP9X	Feeding difficulties	HP:0011968
8239	USP9X	Bifid uvula	HP:0000193
8239	USP9X	Facial asymmetry	HP:0000324
8239	USP9X	Choanal atresia	HP:0000453
8239	USP9X	Short palpebral fissure	HP:0012745
8239	USP9X	Aggressive behavior	HP:0000718
8239	USP9X	Lower limb asymmetry	HP:0100559
8239	USP9X	Prominent forehead	HP:0011220
8239	USP9X	Narrow forehead	HP:0000341
8239	USP9X	Long philtrum	HP:0000343
8239	USP9X	Hypotelorism	HP:0000601
8239	USP9X	Scoliosis	HP:0002650
8239	USP9X	Atrial septal defect	HP:0001631
8239	USP9X	Intellectual disability	HP:0001249
8239	USP9X	Pes cavus	HP:0001761
8239	USP9X	Short stature	HP:0004322
8239	USP9X	Seizures	HP:0001250
8239	USP9X	Astigmatism	HP:0000483
8239	USP9X	Strabismus	HP:0000486
8239	USP9X	Posteriorly rotated ears	HP:0000358
8239	USP9X	Hypertrichosis	HP:0000998
8239	USP9X	Anal atresia	HP:0002023
8239	USP9X	Abnormal cortical gyration	HP:0002536
8239	USP9X	Hip dysplasia	HP:0001385
8239	USP9X	Patent ductus arteriosus	HP:0001643
8239	USP9X	Joint laxity	HP:0001388
8239	USP9X	Short foot	HP:0001773
8239	USP9X	Hearing impairment	HP:0000365
8239	USP9X	Abnormality of thyroid physiology	HP:0002926
8239	USP9X	Delayed speech and language development	HP:0000750
8239	USP9X	Renal dysplasia	HP:0000110
8239	USP9X	Global developmental delay	HP:0001263
8239	USP9X	Low-set ears	HP:0000369
8239	USP9X	Small hand	HP:0200055
8239	USP9X	Brachycephaly	HP:0000248
8239	USP9X	Hydronephrosis	HP:0000126
8241	RBM10	Clinodactyly	HP:0030084
8241	RBM10	Tongue nodules	HP:0000199
8241	RBM10	Optic atrophy	HP:0000648
8241	RBM10	X-linked inheritance	HP:0001417
8241	RBM10	Short palpebral fissure	HP:0012745
8241	RBM10	Generalized hypotonia	HP:0001290
8241	RBM10	X-linked recessive inheritance	HP:0001419
8241	RBM10	Prominent antihelix	HP:0000395
8241	RBM10	Anteverted nares	HP:0000463
8241	RBM10	Horseshoe kidney	HP:0000085
8241	RBM10	Abnormality of cardiovascular system morphology	HP:0030680
8241	RBM10	High palate	HP:0000218
8241	RBM10	Micrognathia	HP:0000347
8241	RBM10	Glossoptosis	HP:0000162
8241	RBM10	Postaxial polydactyly	HP:0100259
8241	RBM10	Talipes equinovarus	HP:0001762
8241	RBM10	Underdeveloped supraorbital ridges	HP:0009891
8241	RBM10	Failure to thrive	HP:0001508
8241	RBM10	Tetralogy of Fallot	HP:0001636
8241	RBM10	Posteriorly rotated ears	HP:0000358
8241	RBM10	Microtia	HP:0008551
8241	RBM10	Intrauterine growth retardation	HP:0001511
8241	RBM10	Hypoplasia of the radius	HP:0002984
8241	RBM10	Cerebellar vermis hypoplasia	HP:0001320
8241	RBM10	Cerebellar hypoplasia	HP:0001321
8241	RBM10	Wide nasal bridge	HP:0000431
8241	RBM10	Global developmental delay	HP:0001263
8241	RBM10	Large fontanelles	HP:0000239
8241	RBM10	Cleft palate	HP:0000175
8241	RBM10	Deep palmar crease	HP:0006191
8241	RBM10	Short sternum	HP:0000879
8241	RBM10	Low-set ears	HP:0000369
8241	RBM10	Cutaneous syndactyly	HP:0012725
8241	RBM10	Abnormal corpus callosum morphology	HP:0001273
8241	RBM10	Single transverse palmar crease	HP:0000954
8241	RBM10	Hypertelorism	HP:0000316
8241	RBM10	Hydronephrosis	HP:0000126
8241	RBM10	Pectus excavatum	HP:0000767
8242	KDM5C	Macrocephaly	HP:0000256
8242	KDM5C	Clinodactyly	HP:0030084
8242	KDM5C	Brachydactyly	HP:0001156
8242	KDM5C	Camptodactyly of finger	HP:0100490
8242	KDM5C	X-linked recessive inheritance	HP:0001419
8242	KDM5C	Multiple cafe-au-lait spots	HP:0007565
8242	KDM5C	Macrotia	HP:0000400
8242	KDM5C	High, narrow palate	HP:0002705
8242	KDM5C	Large hands	HP:0001176
8242	KDM5C	Short distal phalanx of finger	HP:0009882
8242	KDM5C	Protruding ear	HP:0000411
8242	KDM5C	Cryptorchidism	HP:0000028
8242	KDM5C	Hypermetropia	HP:0000540
8242	KDM5C	Tapered finger	HP:0001182
8242	KDM5C	Decreased testicular size	HP:0008734
8242	KDM5C	Babinski sign	HP:0003487
8242	KDM5C	Myopia	HP:0000545
8242	KDM5C	Facial hypotonia	HP:0000297
8242	KDM5C	Prominent nasal bridge	HP:0000426
8242	KDM5C	Mandibular prognathia	HP:0000303
8242	KDM5C	Alopecia areata	HP:0002229
8242	KDM5C	Micropenis	HP:0000054
8242	KDM5C	Short palm	HP:0004279
8242	KDM5C	Shuffling gait	HP:0002362
8242	KDM5C	Diastema	HP:0000699
8242	KDM5C	Talipes calcaneovarus	HP:0008124
8242	KDM5C	Smooth philtrum	HP:0000319
8242	KDM5C	Hyperreflexia	HP:0001347
8242	KDM5C	Upslanted palpebral fissure	HP:0000582
8242	KDM5C	Hypoplasia of the maxilla	HP:0000327
8242	KDM5C	Restlessness	HP:0000711
8242	KDM5C	Autism	HP:0000717
8242	KDM5C	Aggressive behavior	HP:0000718
8242	KDM5C	High palate	HP:0000218
8242	KDM5C	Thin upper lip vermilion	HP:0000219
8242	KDM5C	Micrognathia	HP:0000347
8242	KDM5C	Lower limb hyperreflexia	HP:0002395
8242	KDM5C	Furrowed tongue	HP:0000221
8242	KDM5C	Small forehead	HP:0000350
8242	KDM5C	Short stature	HP:0004322
8242	KDM5C	Seizures	HP:0001250
8242	KDM5C	Talipes equinovarus	HP:0001762
8242	KDM5C	Strabismus	HP:0000486
8242	KDM5C	Intellectual disability, progressive	HP:0006887
8242	KDM5C	Low frustration tolerance	HP:0000744
8242	KDM5C	Spasticity	HP:0001257
8242	KDM5C	Deeply set eye	HP:0000490
8242	KDM5C	Progressive spastic paraplegia	HP:0007020
8242	KDM5C	Short foot	HP:0001773
8242	KDM5C	Delayed speech and language development	HP:0000750
8242	KDM5C	Lower limb hypertonia	HP:0006895
8242	KDM5C	Intellectual disability, severe	HP:0010864
8242	KDM5C	Distal lower limb amyotrophy	HP:0008944
8242	KDM5C	Microcephaly	HP:0000252
8242	KDM5C	Pectus excavatum	HP:0000767
50	ACO2	Paracentral scotoma	HP:0030528
50	ACO2	Athetosis	HP:0002305
50	ACO2	Red-green dyschromatopsia	HP:0000642
50	ACO2	Demyelinating peripheral neuropathy	HP:0007108
50	ACO2	Areflexia	HP:0001284
50	ACO2	Autosomal recessive inheritance	HP:0000007
50	ACO2	Optic atrophy	HP:0000648
50	ACO2	Cerebral cortical atrophy	HP:0002120
50	ACO2	Infantile onset	HP:0003593
50	ACO2	Generalized hypotonia	HP:0001290
50	ACO2	Severe global developmental delay	HP:0011344
50	ACO2	Pallor	HP:0000980
50	ACO2	Sensorineural hearing impairment	HP:0000407
50	ACO2	Hypoplasia of the corpus callosum	HP:0002079
50	ACO2	Seizures	HP:0001250
50	ACO2	Ataxia	HP:0001251
50	ACO2	Failure to thrive	HP:0001508
50	ACO2	Strabismus	HP:0000486
50	ACO2	Retinal dystrophy	HP:0000556
50	ACO2	Reduced visual acuity	HP:0007663
50	ACO2	Intellectual disability, severe	HP:0010864
50	ACO2	Hyporeflexia	HP:0001265
50	ACO2	Cerebellar atrophy	HP:0001272
50	ACO2	Progressive microcephaly	HP:0000253
50	ACO2	Nystagmus	HP:0000639
51	ACOX1	Abnormal electroretinogram	HP:0000512
51	ACOX1	Autosomal recessive inheritance	HP:0000007
51	ACOX1	Gait disturbance	HP:0001288
51	ACOX1	Optic atrophy	HP:0000648
51	ACOX1	Hand polydactyly	HP:0001161
51	ACOX1	Abnormality of visual evoked potentials	HP:0000649
51	ACOX1	Infantile onset	HP:0003593
51	ACOX1	CNS demyelination	HP:0007305
51	ACOX1	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
51	ACOX1	Abnormality of metabolism/homeostasis	HP:0001939
51	ACOX1	Sensorineural hearing impairment	HP:0000407
51	ACOX1	Diffuse hepatic steatosis	HP:0006555
51	ACOX1	Hypodontia	HP:0000668
51	ACOX1	Epicanthus	HP:0000286
51	ACOX1	Babinski sign	HP:0003487
51	ACOX1	Depressed nasal bridge	HP:0005280
51	ACOX1	Myopia	HP:0000545
51	ACOX1	Neonatal hypotonia	HP:0001319
51	ACOX1	Bilateral sensorineural hearing impairment	HP:0008619
51	ACOX1	Respiratory insufficiency	HP:0002093
51	ACOX1	Wide nasal bridge	HP:0000431
51	ACOX1	EEG abnormality	HP:0002353
51	ACOX1	Dystonia	HP:0001332
51	ACOX1	No social interaction	HP:0008763
51	ACOX1	Hypertelorism	HP:0000316
51	ACOX1	Hepatomegaly	HP:0002240
51	ACOX1	Hyperreflexia	HP:0001347
51	ACOX1	Pigmentary retinopathy	HP:0000580
51	ACOX1	Developmental regression	HP:0002376
51	ACOX1	Severe global developmental delay	HP:0011344
51	ACOX1	Frontal bossing	HP:0002007
51	ACOX1	Elevated hepatic transaminase	HP:0002910
51	ACOX1	Abnormality of nervous system morphology	HP:0012639
51	ACOX1	Dysphagia	HP:0002015
51	ACOX1	Irritability	HP:0000737
51	ACOX1	Seizures	HP:0001250
51	ACOX1	Muscular hypotonia	HP:0001252
51	ACOX1	Failure to thrive	HP:0001508
51	ACOX1	Strabismus	HP:0000486
51	ACOX1	Intellectual disability, progressive	HP:0006887
51	ACOX1	Global developmental delay	HP:0001263
51	ACOX1	Leukodystrophy	HP:0002415
51	ACOX1	Intellectual disability, severe	HP:0010864
51	ACOX1	Low-set ears	HP:0000369
51	ACOX1	Death in infancy	HP:0001522
51	ACOX1	Inverted nipples	HP:0003186
51	ACOX1	Neurological speech impairment	HP:0002167
51	ACOX1	Brachycephaly	HP:0000248
51	ACOX1	Hypertonia	HP:0001276
51	ACOX1	Rod-cone dystrophy	HP:0000510
51	ACOX1	Nystagmus	HP:0000639
8243	SMC1A	Multicystic kidney dysplasia	HP:0000003
8243	SMC1A	Cataract	HP:0000518
8243	SMC1A	Intestinal malrotation	HP:0002566
8243	SMC1A	Congenital diaphragmatic hernia	HP:0000776
8243	SMC1A	Hip dislocation	HP:0002827
8243	SMC1A	Dolichocephaly	HP:0000268
8243	SMC1A	Long eyelashes	HP:0000527
8243	SMC1A	Primary amenorrhea	HP:0000786
8243	SMC1A	Volvulus	HP:0002580
8243	SMC1A	Prenatal movement abnormality	HP:0001557
8243	SMC1A	Cryptorchidism	HP:0000028
8243	SMC1A	Epicanthus	HP:0000286
8243	SMC1A	Hypoplasia of penis	HP:0008736
8243	SMC1A	Myopia	HP:0000545
8243	SMC1A	Low anterior hairline	HP:0000294
8243	SMC1A	Hypospadias	HP:0000047
8243	SMC1A	Short 1st metacarpal	HP:0010034
8243	SMC1A	Delayed puberty	HP:0000823
8243	SMC1A	Round face	HP:0000311
8243	SMC1A	Sleep disturbance	HP:0002360
8243	SMC1A	Aplasia/Hypoplasia of the ribs	HP:0006712
8243	SMC1A	Growth hormone deficiency	HP:0000824
8243	SMC1A	Psychomotor deterioration	HP:0002361
8243	SMC1A	Hypoplastic labia majora	HP:0000059
8243	SMC1A	Abnormally low-pitched voice	HP:0010300
8243	SMC1A	Hypertelorism	HP:0000316
8243	SMC1A	Thick eyebrow	HP:0000574
8243	SMC1A	Smooth philtrum	HP:0000319
8243	SMC1A	Facial asymmetry	HP:0000324
8243	SMC1A	Ventriculomegaly	HP:0002119
8243	SMC1A	Cerebral cortical atrophy	HP:0002120
8243	SMC1A	Vesicoureteral reflux	HP:0000076
8243	SMC1A	Flat face	HP:0012368
8243	SMC1A	Renal insufficiency	HP:0000083
8243	SMC1A	Abnormality of the elbow	HP:0009811
8243	SMC1A	Narrow forehead	HP:0000341
8243	SMC1A	Premature birth	HP:0001622
8243	SMC1A	Long philtrum	HP:0000343
8243	SMC1A	Micrognathia	HP:0000347
8243	SMC1A	Talipes	HP:0001883
8243	SMC1A	High forehead	HP:0000348
8243	SMC1A	Ventricular septal defect	HP:0001629
8243	SMC1A	Atrial septal defect	HP:0001631
8243	SMC1A	Peripheral neuropathy	HP:0009830
8243	SMC1A	Hypertrophic cardiomyopathy	HP:0001639
8243	SMC1A	Hip dysplasia	HP:0001385
8243	SMC1A	Attention deficit hyperactivity disorder	HP:0007018
8243	SMC1A	Joint stiffness	HP:0001387
8243	SMC1A	Intellectual disability, severe	HP:0010864
8243	SMC1A	Low-set, posteriorly rotated ears	HP:0000368
8243	SMC1A	Clinodactyly of the 5th finger	HP:0004209
8243	SMC1A	Low-set ears	HP:0000369
8243	SMC1A	Low posterior hairline	HP:0002162
8243	SMC1A	Small hand	HP:0200055
8243	SMC1A	Neurological speech impairment	HP:0002167
8243	SMC1A	Short nose	HP:0003196
8243	SMC1A	Nystagmus	HP:0000639
8243	SMC1A	Increased nuchal translucency	HP:0010880
8243	SMC1A	Abnormality of the uterus	HP:0000130
8243	SMC1A	Clinodactyly	HP:0030084
8243	SMC1A	Brachydactyly	HP:0001156
8243	SMC1A	Oligodactyly	HP:0012165
8243	SMC1A	X-linked recessive inheritance	HP:0001419
8243	SMC1A	X-linked dominant inheritance	HP:0001423
8243	SMC1A	Macrotia	HP:0000400
8243	SMC1A	Severe postnatal growth retardation	HP:0008850
8243	SMC1A	Delayed gross motor development	HP:0002194
8243	SMC1A	Conductive hearing impairment	HP:0000405
8243	SMC1A	Proximal placement of thumb	HP:0009623
8243	SMC1A	Sensorineural hearing impairment	HP:0000407
8243	SMC1A	Synophrys	HP:0000664
8243	SMC1A	Downturned corners of mouth	HP:0002714
8243	SMC1A	Phthisis bulbi	HP:0000667
8243	SMC1A	Atresia of the external auditory canal	HP:0000413
8243	SMC1A	Radioulnar synostosis	HP:0002974
8243	SMC1A	Tapered finger	HP:0001182
8243	SMC1A	Depressed nasal bridge	HP:0005280
8243	SMC1A	Poor speech	HP:0002465
8243	SMC1A	Truncal obesity	HP:0001956
8243	SMC1A	Micromelia	HP:0002983
8243	SMC1A	Feeding difficulties in infancy	HP:0008872
8243	SMC1A	Prominent nasal bridge	HP:0000426
8243	SMC1A	Delayed eruption of teeth	HP:0000684
8243	SMC1A	Bilateral single transverse palmar creases	HP:0007598
8243	SMC1A	Cleft palate	HP:0000175
8243	SMC1A	Widely spaced teeth	HP:0000687
8243	SMC1A	Wide nasal bridge	HP:0000431
8243	SMC1A	Limited elbow movement	HP:0002996
8243	SMC1A	Generalized hirsutism	HP:0002230
8243	SMC1A	Congenital, generalized hypertrichosis	HP:0004540
8243	SMC1A	Cognitive impairment	HP:0100543
8243	SMC1A	Delayed skeletal maturation	HP:0002750
8243	SMC1A	Aplasia/Hypoplasia of the cerebellum	HP:0007360
8243	SMC1A	Sacral dimple	HP:0000960
8243	SMC1A	Feeding difficulties	HP:0011968
8243	SMC1A	Postnatal growth retardation	HP:0008897
8243	SMC1A	Cutis marmorata	HP:0000965
8243	SMC1A	Choanal atresia	HP:0000453
8243	SMC1A	Rhizomelia	HP:0008905
8243	SMC1A	Short palpebral fissure	HP:0012745
8243	SMC1A	Autism	HP:0000717
8243	SMC1A	Aggressive behavior	HP:0000718
8243	SMC1A	Anteverted nares	HP:0000463
8243	SMC1A	Webbed neck	HP:0000465
8243	SMC1A	Obsessive-compulsive behavior	HP:0000722
8243	SMC1A	Short neck	HP:0000470
8243	SMC1A	High palate	HP:0000218
8243	SMC1A	Thin upper lip vermilion	HP:0000219
8243	SMC1A	Stereotypy	HP:0000733
8243	SMC1A	Dysphagia	HP:0002015
8243	SMC1A	Short attention span	HP:0000736
8243	SMC1A	Intellectual disability	HP:0001249
8243	SMC1A	Seizures	HP:0001250
8243	SMC1A	Short stature	HP:0004322
8243	SMC1A	Elbow dislocation	HP:0003042
8243	SMC1A	Microcornea	HP:0000482
8243	SMC1A	Anxiety	HP:0000739
8243	SMC1A	Gastroesophageal reflux	HP:0002020
8243	SMC1A	Muscular hypotonia	HP:0001252
8243	SMC1A	Failure to thrive	HP:0001508
8243	SMC1A	Dilatation of renal calices	HP:0100581
8243	SMC1A	Pyloric stenosis	HP:0002021
8243	SMC1A	Strabismus	HP:0000486
8243	SMC1A	Intrauterine growth retardation	HP:0001511
8243	SMC1A	Low frustration tolerance	HP:0000744
8243	SMC1A	Thin vermilion border	HP:0000233
8243	SMC1A	Toe syndactyly	HP:0001770
8243	SMC1A	Short foot	HP:0001773
8243	SMC1A	Downslanted palpebral fissures	HP:0000494
8243	SMC1A	Delayed speech and language development	HP:0000750
8243	SMC1A	Global developmental delay	HP:0001263
8243	SMC1A	Hirsutism	HP:0001007
8243	SMC1A	Hyperactivity	HP:0000752
8243	SMC1A	Accelerated skeletal maturation	HP:0005616
8243	SMC1A	Curly eyelashes	HP:0007665
8243	SMC1A	Blepharitis	HP:0000498
8243	SMC1A	Glaucoma	HP:0000501
8243	SMC1A	Hyperextensibility at elbow	HP:0010485
8243	SMC1A	Brachycephaly	HP:0000248
8243	SMC1A	Highly arched eyebrow	HP:0002553
8243	SMC1A	Abnormal corpus callosum morphology	HP:0001273
8243	SMC1A	Telecanthus	HP:0000506
8243	SMC1A	Ptosis	HP:0000508
8243	SMC1A	Microcephaly	HP:0000252
8243	SMC1A	Hypertonia	HP:0001276
8243	SMC1A	Hypoplastic nipples	HP:0002557
8243	SMC1A	Pectus excavatum	HP:0000767
53	ACP2	Opisthotonus	HP:0002179
53	ACP2	Muscular hypotonia	HP:0001252
53	ACP2	Abnormal bleeding	HP:0001892
53	ACP2	Autosomal recessive inheritance	HP:0000007
53	ACP2	Generalized hypotonia	HP:0001290
53	ACP2	Vomiting	HP:0002013
54	ACP5	Autosomal recessive inheritance	HP:0000007
54	ACP5	Tubulointerstitial fibrosis	HP:0005576
54	ACP5	Rhizomelia	HP:0008905
54	ACP5	Hypermelanotic macule	HP:0001034
54	ACP5	Combined immunodeficiency	HP:0005387
54	ACP5	Narrow nose	HP:0000460
54	ACP5	Immune dysregulation	HP:0002958
54	ACP5	Metaphyseal irregularity	HP:0003025
54	ACP5	Purpura	HP:0000979
54	ACP5	Recurrent otitis media	HP:0000403
54	ACP5	Vitiligo	HP:0001045
54	ACP5	Decrease in T cell count	HP:0005403
54	ACP5	Lymphadenopathy	HP:0002716
54	ACP5	Recurrent respiratory infections	HP:0002205
54	ACP5	Platyspondyly	HP:0000926
54	ACP5	Spondylometaphyseal dysplasia	HP:0002657
54	ACP5	Short stature	HP:0004322
54	ACP5	Recurrent sinusitis	HP:0011108
54	ACP5	Irregular vertebral endplates	HP:0003301
54	ACP5	Juvenile onset	HP:0003621
54	ACP5	Hypopigmented skin patches on arms	HP:0007526
54	ACP5	Micromelia	HP:0002983
54	ACP5	Intellectual disability, mild	HP:0001256
54	ACP5	Abnormality of epiphysis morphology	HP:0005930
54	ACP5	Pneumonia	HP:0002090
54	ACP5	Hyperlordosis	HP:0003307
54	ACP5	Restrictive ventilatory defect	HP:0002091
54	ACP5	Delayed eruption of teeth	HP:0000684
54	ACP5	Progressive spastic quadriplegia	HP:0002478
54	ACP5	Abnormality of the metaphysis	HP:0000944
54	ACP5	Abnormal form of the vertebral bodies	HP:0003312
54	ACP5	Spastic diplegia	HP:0001264
54	ACP5	Juvenile rheumatoid arthritis	HP:0005681
54	ACP5	Low-set ears	HP:0000369
54	ACP5	Large iliac wings	HP:0008818
54	ACP5	Metaphyseal sclerosis	HP:0004979
54	ACP5	Hypothyroidism	HP:0000821
54	ACP5	Autoimmune thrombocytopenia	HP:0001973
54	ACP5	Kyphosis	HP:0002808
54	ACP5	Lumbar hyperlordosis	HP:0002938
54	ACP5	Cellular immunodeficiency	HP:0005374
54	ACP5	Kyphoscoliosis	HP:0002751
90167	FRMD7	Heterogeneous	HP:0001425
90167	FRMD7	Mildly reduced visual acuity	HP:0032037
90167	FRMD7	Congenital nystagmus	HP:0006934
90167	FRMD7	Infantile onset	HP:0003593
90167	FRMD7	Horizontal nystagmus	HP:0000666
90167	FRMD7	Pendular nystagmus	HP:0012043
90167	FRMD7	X-linked recessive inheritance	HP:0001419
90167	FRMD7	X-linked dominant inheritance	HP:0001423
90167	FRMD7	Reduced visual acuity	HP:0007663
58	ACTA1	Bulbar palsy	HP:0001283
58	ACTA1	Areflexia	HP:0001284
58	ACTA1	Narrow chest	HP:0000774
58	ACTA1	Autosomal dominant inheritance	HP:0000006
58	ACTA1	Abnormality of the diaphragm	HP:0000775
58	ACTA1	Autosomal recessive inheritance	HP:0000007
58	ACTA1	Clumsiness	HP:0002312
58	ACTA1	Generalized hypotonia	HP:0001290
58	ACTA1	Myopathic facies	HP:0002058
58	ACTA1	Hip dislocation	HP:0002827
58	ACTA1	Rigidity	HP:0002063
58	ACTA1	Hamstring contractures	HP:0003089
58	ACTA1	Bradykinesia	HP:0002067
58	ACTA1	Narrow face	HP:0000275
58	ACTA1	Neuromuscular dysphagia	HP:0002068
58	ACTA1	Long face	HP:0000276
58	ACTA1	Calf muscle hypertrophy	HP:0008981
58	ACTA1	Decreased fetal movement	HP:0001558
58	ACTA1	Retrognathia	HP:0000278
58	ACTA1	Polyhydramnios	HP:0001561
58	ACTA1	Cryptorchidism	HP:0000028
58	ACTA1	Type 1 muscle fiber atrophy	HP:0011807
58	ACTA1	Reduced tendon reflexes	HP:0001315
58	ACTA1	Neonatal hypotonia	HP:0001319
58	ACTA1	Pulmonary hypoplasia	HP:0002089
58	ACTA1	Genu valgum	HP:0002857
58	ACTA1	Pneumonia	HP:0002090
58	ACTA1	Mask-like facies	HP:0000298
58	ACTA1	Respiratory insufficiency	HP:0002093
58	ACTA1	Hypospadias	HP:0000047
58	ACTA1	Limb joint contracture	HP:0003121
58	ACTA1	Difficulty walking	HP:0002355
58	ACTA1	Tented upper lip vermilion	HP:0010804
58	ACTA1	Micropenis	HP:0000054
58	ACTA1	Frequent falls	HP:0002359
58	ACTA1	Cardiac conduction abnormality	HP:0031546
58	ACTA1	Hypertelorism	HP:0000316
58	ACTA1	Nocturnal hypoventilation	HP:0002877
58	ACTA1	Respiratory failure	HP:0002878
58	ACTA1	Gowers sign	HP:0003391
58	ACTA1	Increased connective tissue	HP:0009025
58	ACTA1	Ankle contracture	HP:0006466
58	ACTA1	Foot dorsiflexor weakness	HP:0009027
58	ACTA1	Hyperreflexia	HP:0001347
58	ACTA1	Facial diplegia	HP:0001349
58	ACTA1	Hypokinesia	HP:0002375
58	ACTA1	Weak cry	HP:0001612
58	ACTA1	Premature birth	HP:0001622
58	ACTA1	Breech presentation	HP:0001623
58	ACTA1	Long philtrum	HP:0000343
58	ACTA1	Edema of the dorsum of hands	HP:0007514
58	ACTA1	Ophthalmoplegia	HP:0000602
58	ACTA1	Scoliosis	HP:0002650
58	ACTA1	Micrognathia	HP:0000347
58	ACTA1	Slow progression	HP:0003677
58	ACTA1	Congenital hip dislocation	HP:0001374
58	ACTA1	Generalized limb muscle atrophy	HP:0009055
58	ACTA1	Increased muscle lipid content	HP:0009058
58	ACTA1	Handgrip myotonia	HP:0012899
58	ACTA1	Cardiomyopathy	HP:0001638
58	ACTA1	Centrally nucleated skeletal muscle fibers	HP:0003687
58	ACTA1	Limb muscle weakness	HP:0003690
58	ACTA1	Scapular winging	HP:0003691
58	ACTA1	Dilated cardiomyopathy	HP:0001644
58	ACTA1	Joint laxity	HP:0001388
58	ACTA1	Low-set ears	HP:0000369
58	ACTA1	Thin ribs	HP:0000883
58	ACTA1	Proximal muscle weakness	HP:0003701
58	ACTA1	Poor head control	HP:0002421
58	ACTA1	EMG: neuropathic changes	HP:0003445
58	ACTA1	Lumbar hyperlordosis	HP:0002938
58	ACTA1	Myopathy	HP:0003198
58	ACTA1	Limb-girdle muscular dystrophy	HP:0006785
58	ACTA1	Muscle fiber necrosis	HP:0003713
58	ACTA1	EMG: myopathic abnormalities	HP:0003458
58	ACTA1	Skeletal muscle atrophy	HP:0003202
58	ACTA1	Myofibrillar myopathy	HP:0003715
58	ACTA1	Facial palsy	HP:0010628
58	ACTA1	Neck flexor weakness	HP:0003722
58	ACTA1	Heterogeneous	HP:0001425
58	ACTA1	High, narrow palate	HP:0002705
58	ACTA1	Autophagic vacuoles	HP:0003736
58	ACTA1	Genu varum	HP:0002970
58	ACTA1	Distal muscle weakness	HP:0002460
58	ACTA1	Adducted thumb	HP:0001181
58	ACTA1	Recurrent respiratory infections	HP:0002205
58	ACTA1	Abnormality on pulmonary function testing	HP:0030878
58	ACTA1	Elevated serum creatine kinase	HP:0003236
58	ACTA1	Feeding difficulties in infancy	HP:0008872
58	ACTA1	Hand muscle atrophy	HP:0009130
58	ACTA1	Type 1 fibers relatively smaller than type 2 fibers	HP:0003755
58	ACTA1	Elbow flexion contracture	HP:0002987
58	ACTA1	Severe muscular hypotonia	HP:0006829
58	ACTA1	Bulbar signs	HP:0002483
58	ACTA1	Respiratory insufficiency due to muscle weakness	HP:0002747
58	ACTA1	Kyphoscoliosis	HP:0002751
58	ACTA1	Feeding difficulties	HP:0011968
58	ACTA1	Fetal akinesia sequence	HP:0001989
58	ACTA1	Hip contracture	HP:0003273
58	ACTA1	Waddling gait	HP:0002515
58	ACTA1	Neck muscle weakness	HP:0000467
58	ACTA1	Wrist drop	HP:0031189
58	ACTA1	Nemaline bodies	HP:0003798
58	ACTA1	Short neck	HP:0000470
58	ACTA1	Torticollis	HP:0000473
58	ACTA1	Exercise intolerance	HP:0003546
58	ACTA1	High palate	HP:0000218
58	ACTA1	Type 1 muscle fiber predominance	HP:0003803
58	ACTA1	Rimmed vacuoles	HP:0003805
58	ACTA1	Difficulty climbing stairs	HP:0003551
58	ACTA1	Multiple prenatal fractures	HP:0005855
58	ACTA1	Dysphagia	HP:0002015
58	ACTA1	Muscle stiffness	HP:0003552
58	ACTA1	Pes cavus	HP:0001761
58	ACTA1	Intellectual disability	HP:0001249
58	ACTA1	Short stature	HP:0004322
58	ACTA1	Talipes equinovarus	HP:0001762
58	ACTA1	Late-onset distal muscle weakness	HP:0003810
58	ACTA1	Muscle fiber splitting	HP:0003555
58	ACTA1	Failure to thrive	HP:0001508
58	ACTA1	Muscular hypotonia	HP:0001252
58	ACTA1	Increased variability in muscle fiber diameter	HP:0003557
58	ACTA1	Reduced vital capacity	HP:0002792
58	ACTA1	Spinal rigidity	HP:0003306
58	ACTA1	Hyperlordosis	HP:0003307
58	ACTA1	Achilles tendon contracture	HP:0001771
58	ACTA1	Knee flexion contracture	HP:0006380
58	ACTA1	Global developmental delay	HP:0001263
58	ACTA1	Large fontanelles	HP:0000239
58	ACTA1	Fatigable weakness of bulbar muscles	HP:0030192
58	ACTA1	Hyporeflexia	HP:0001265
58	ACTA1	Poor suck	HP:0002033
58	ACTA1	Flexion contracture of finger	HP:0012785
58	ACTA1	Arthrogryposis multiplex congenita	HP:0002804
58	ACTA1	Mildly elevated creatine kinase	HP:0008180
58	ACTA1	Fatigable weakness of respiratory muscles	HP:0030196
58	ACTA1	Variable expressivity	HP:0003828
58	ACTA1	Motor delay	HP:0001270
58	ACTA1	Fatigable weakness of distal limb muscles	HP:0030198
58	ACTA1	Kyphosis	HP:0002808
58	ACTA1	Fatiguable weakness of proximal limb muscles	HP:0030200
58	ACTA1	Congenital onset	HP:0003577
58	ACTA1	Progressive muscle weakness	HP:0003323
58	ACTA1	Ptosis	HP:0000508
58	ACTA1	Generalized muscle weakness	HP:0003324
58	ACTA1	Hypertonia	HP:0001276
58	ACTA1	Slender build	HP:0001533
58	ACTA1	Limb-girdle muscle weakness	HP:0003325
58	ACTA1	Abnormality of the thorax	HP:0000765
58	ACTA1	Axial muscle weakness	HP:0003327
58	ACTA1	Pectus excavatum	HP:0000767
59	ACTA2	Carotid artery dilatation	HP:0012163
59	ACTA2	Autosomal dominant inheritance	HP:0000006
59	ACTA2	Intestinal malrotation	HP:0002566
59	ACTA2	Chest pain	HP:0100749
59	ACTA2	Coronary artery atherosclerosis	HP:0001677
59	ACTA2	Abnormality iris morphology	HP:0000525
59	ACTA2	Arachnodactyly	HP:0001166
59	ACTA2	High, narrow palate	HP:0002705
59	ACTA2	Transient ischemic attack	HP:0002326
59	ACTA2	Retrognathia	HP:0000278
59	ACTA2	Inguinal hernia	HP:0000023
59	ACTA2	Cryptorchidism	HP:0000028
59	ACTA2	Hyperperistalsis	HP:0100770
59	ACTA2	Dural ectasia	HP:0100775
59	ACTA2	Left ventricular dysfunction	HP:0005162
59	ACTA2	Periventricular white matter hyperdensities	HP:0030891
59	ACTA2	Pulmonary arterial hypertension	HP:0002092
59	ACTA2	Abnormality of the cerebral vasculature	HP:0100659
59	ACTA2	Hypertension	HP:0000822
59	ACTA2	Thoracic aortic aneurysm	HP:0012727
59	ACTA2	Aortic root aneurysm	HP:0002616
59	ACTA2	Hemoptysis	HP:0002105
59	ACTA2	Retinal infarction	HP:0007866
59	ACTA2	Moyamoya phenomenon	HP:0011834
59	ACTA2	Pneumothorax	HP:0002107
59	ACTA2	Exertional dyspnea	HP:0002875
59	ACTA2	Hypertelorism	HP:0000316
59	ACTA2	Premature coronary artery atherosclerosis	HP:0005181
59	ACTA2	Ascending aortic dissection	HP:0004933
59	ACTA2	Cutis marmorata	HP:0000965
59	ACTA2	Ventriculomegaly	HP:0002119
59	ACTA2	Aortic aneurysm	HP:0004942
59	ACTA2	Dilatation of the cerebral artery	HP:0004944
59	ACTA2	Mucoid extracellular matrix accumulation	HP:0200146
59	ACTA2	Bruising susceptibility	HP:0000978
59	ACTA2	Descending aortic dissection	HP:0012499
59	ACTA2	Peripheral arterial stenosis	HP:0004950
59	ACTA2	Subarachnoid hemorrhage	HP:0002138
59	ACTA2	Scoliosis	HP:0002650
59	ACTA2	Paroxysmal dyspnea	HP:0012763
59	ACTA2	Ischemic stroke	HP:0002140
59	ACTA2	Descending thoracic aorta aneurysm	HP:0004959
59	ACTA2	Intellectual disability	HP:0001249
59	ACTA2	Hypovolemia	HP:0011106
59	ACTA2	Tall stature	HP:0000098
59	ACTA2	Seizures	HP:0001250
59	ACTA2	Pes planus	HP:0001763
59	ACTA2	Tachypnea	HP:0002789
59	ACTA2	Cardiomegaly	HP:0001640
59	ACTA2	Ascending tubular aorta aneurysm	HP:0004970
59	ACTA2	Mydriasis	HP:0011499
59	ACTA2	Patent ductus arteriosus	HP:0001643
59	ACTA2	Bicuspid aortic valve	HP:0001647
59	ACTA2	Telangiectasia	HP:0001009
59	ACTA2	Abdominal aortic aneurysm	HP:0005112
59	ACTA2	Aortic regurgitation	HP:0001659
59	ACTA2	Prenatal maternal abnormality	HP:0002686
59	ACTA2	Abnormality of the sternum	HP:0000766
60	ACTB	Pectus carinatum	HP:0000768
60	ACTB	Death in early adulthood	HP:0100613
60	ACTB	Autosomal dominant inheritance	HP:0000006
60	ACTB	Cataract	HP:0000518
60	ACTB	Autosomal recessive inheritance	HP:0000007
60	ACTB	Generalized hypotonia	HP:0001290
60	ACTB	Hypermelanotic macule	HP:0001034
60	ACTB	Achalasia	HP:0002571
60	ACTB	Delayed cranial suture closure	HP:0000270
60	ACTB	Pachygyria	HP:0001302
60	ACTB	Retrognathia	HP:0000278
60	ACTB	Transient ischemic attack	HP:0002326
60	ACTB	Midface retrusion	HP:0011800
60	ACTB	Coarse facial features	HP:0000280
60	ACTB	Cryptorchidism	HP:0000028
60	ACTB	Epicanthus	HP:0000286
60	ACTB	Echolalia	HP:0010529
60	ACTB	Full cheeks	HP:0000293
60	ACTB	Retinoschisis	HP:0030502
60	ACTB	Abnormality of the scrotum	HP:0000045
60	ACTB	Specific learning disability	HP:0001328
60	ACTB	Pointed chin	HP:0000307
60	ACTB	Dysphasia	HP:0002357
60	ACTB	Micropenis	HP:0000054
60	ACTB	Chorioretinal coloboma	HP:0000567
60	ACTB	Microphthalmia	HP:0000568
60	ACTB	Macrogyria	HP:0007227
60	ACTB	Hypertelorism	HP:0000316
60	ACTB	Hypoplastic labia minora	HP:0000064
60	ACTB	Hamartoma	HP:0010566
60	ACTB	Ventriculomegaly	HP:0002119
60	ACTB	Aplasia/Hypoplasia of the breasts	HP:0010311
60	ACTB	Hydroureter	HP:0000072
60	ACTB	Optic nerve coloboma	HP:0000588
60	ACTB	Heterochromia iridis	HP:0001100
60	ACTB	Aphasia	HP:0002381
60	ACTB	Mild global developmental delay	HP:0011342
60	ACTB	Polymicrogyria	HP:0002126
60	ACTB	Duplication of phalanx of hallux	HP:0010066
60	ACTB	Long philtrum	HP:0000343
60	ACTB	Scoliosis	HP:0002650
60	ACTB	Micrognathia	HP:0000347
60	ACTB	Externally rotated hips	HP:0008796
60	ACTB	High forehead	HP:0000348
60	ACTB	Skeletal dysplasia	HP:0002652
60	ACTB	Iris coloboma	HP:0000612
60	ACTB	Euryblepharon	HP:0012905
60	ACTB	Blindness	HP:0000618
60	ACTB	Patent ductus arteriosus	HP:0001643
60	ACTB	Joint stiffness	HP:0001387
60	ACTB	Bicuspid aortic valve	HP:0001647
60	ACTB	Prominent metopic ridge	HP:0005487
60	ACTB	Low-set ears	HP:0000369
60	ACTB	Aortic valve stenosis	HP:0001650
60	ACTB	Low posterior hairline	HP:0002162
60	ACTB	Hypoplastic scapulae	HP:0000882
60	ACTB	Long nose	HP:0003189
60	ACTB	Short nose	HP:0003196
60	ACTB	Long palpebral fissure	HP:0000637
60	ACTB	Subcortical cerebral atrophy	HP:0012157
60	ACTB	Hydronephrosis	HP:0000126
60	ACTB	Rib fusion	HP:0000902
60	ACTB	Overfolded helix	HP:0000396
60	ACTB	Shoulder girdle muscle atrophy	HP:0003724
60	ACTB	Abnormality of metabolism/homeostasis	HP:0001939
60	ACTB	Sensorineural hearing impairment	HP:0000407
60	ACTB	Wide mouth	HP:0000154
60	ACTB	Generalized dystonia	HP:0007325
60	ACTB	Macroglossia	HP:0000158
60	ACTB	Immunodeficiency	HP:0002721
60	ACTB	Micromelia	HP:0002983
60	ACTB	Wide nasal bridge	HP:0000431
60	ACTB	Cleft palate	HP:0000175
60	ACTB	Abnormality of tibia morphology	HP:0002992
60	ACTB	Depressed nasal tip	HP:0000437
60	ACTB	Supernumerary ribs	HP:0005815
60	ACTB	Palpebral edema	HP:0100540
60	ACTB	Wide nose	HP:0000445
60	ACTB	Kyphoscoliosis	HP:0002751
60	ACTB	Prominent nose	HP:0000448
60	ACTB	Feeding difficulties	HP:0011968
60	ACTB	Postnatal growth retardation	HP:0008897
60	ACTB	Oral cleft	HP:0000202
60	ACTB	Cleft upper lip	HP:0000204
60	ACTB	Lower limb asymmetry	HP:0100559
60	ACTB	Anteverted nares	HP:0000463
60	ACTB	Short columella	HP:0002000
60	ACTB	Webbed neck	HP:0000465
60	ACTB	Upper limb asymmetry	HP:0100560
60	ACTB	Cerebral cortical hemiatrophy	HP:0100308
60	ACTB	Short neck	HP:0000470
60	ACTB	Duplication of thumb phalanx	HP:0009942
60	ACTB	Thin upper lip vermilion	HP:0000219
60	ACTB	Dysphagia	HP:0002015
60	ACTB	Intellectual disability	HP:0001249
60	ACTB	Seizures	HP:0001250
60	ACTB	Short stature	HP:0004322
60	ACTB	Microcornea	HP:0000482
60	ACTB	Spina bifida occulta	HP:0003298
60	ACTB	Lipoatrophy	HP:0100578
60	ACTB	Muscular hypotonia	HP:0001252
60	ACTB	Failure to thrive	HP:0001508
60	ACTB	Growth delay	HP:0001510
60	ACTB	Intellectual disability, mild	HP:0001256
60	ACTB	Thin vermilion border	HP:0000233
60	ACTB	Small for gestational age	HP:0001518
60	ACTB	Downslanted palpebral fissures	HP:0000494
60	ACTB	Global developmental delay	HP:0001263
60	ACTB	Large fontanelles	HP:0000239
60	ACTB	Trigonocephaly	HP:0000243
60	ACTB	Mental deterioration	HP:0001268
60	ACTB	Kyphosis	HP:0002808
60	ACTB	Highly arched eyebrow	HP:0002553
60	ACTB	Agenesis of corpus callosum	HP:0001274
60	ACTB	Telecanthus	HP:0000506
60	ACTB	Microcephaly	HP:0000252
60	ACTB	Ptosis	HP:0000508
60	ACTB	Osteochondrosis	HP:0040188
60	ACTB	Mutism	HP:0002300
60	ACTB	Supernumerary nipple	HP:0002558
60	ACTB	Pectus excavatum	HP:0000767
57410	SCYL1	Saccadic smooth pursuit	HP:0001152
57410	SCYL1	Hepatomegaly	HP:0002240
57410	SCYL1	Dysmetric saccades	HP:0000641
57410	SCYL1	Hyperreflexia	HP:0001347
57410	SCYL1	Cerebellar vermis atrophy	HP:0006855
57410	SCYL1	Autosomal recessive inheritance	HP:0000007
57410	SCYL1	Optic atrophy	HP:0000648
57410	SCYL1	Paresthesia	HP:0003401
57410	SCYL1	Splenomegaly	HP:0001744
57410	SCYL1	Gait ataxia	HP:0002066
57410	SCYL1	Sensory impairment	HP:0003474
57410	SCYL1	Hepatosplenomegaly	HP:0001433
57410	SCYL1	Progressive cerebellar ataxia	HP:0002073
57410	SCYL1	Fever	HP:0001945
57410	SCYL1	Acute hepatic failure	HP:0006554
57410	SCYL1	Distal lower limb muscle weakness	HP:0009053
57410	SCYL1	Generalized limb muscle atrophy	HP:0009055
57410	SCYL1	Intention tremor	HP:0002080
57410	SCYL1	Talipes equinovarus	HP:0001762
57410	SCYL1	Sensorimotor neuropathy	HP:0007141
57410	SCYL1	Intellectual disability, mild	HP:0001256
57410	SCYL1	Spasticity	HP:0001257
57410	SCYL1	Global developmental delay	HP:0001263
57410	SCYL1	Hyporeflexia	HP:0001265
57410	SCYL1	Hepatic fibrosis	HP:0001395
57410	SCYL1	Stuttering	HP:0025268
57410	SCYL1	Motor delay	HP:0001270
57410	SCYL1	Frequent falls	HP:0002359
57410	SCYL1	Hepatic failure	HP:0001399
57410	SCYL1	Distal sensory impairment	HP:0002936
57410	SCYL1	Cerebellar atrophy	HP:0001272
57410	SCYL1	Tremor	HP:0001337
8260	NAA10	Joint contracture of the hand	HP:0009473
8260	NAA10	Narrow chest	HP:0000774
8260	NAA10	Cataract	HP:0000518
8260	NAA10	Proptosis	HP:0000520
8260	NAA10	Generalized hypotonia	HP:0001290
8260	NAA10	Cerebral atrophy	HP:0002059
8260	NAA10	Delayed cranial suture closure	HP:0000270
8260	NAA10	Long eyelashes	HP:0000527
8260	NAA10	Anophthalmia	HP:0000528
8260	NAA10	Capillary malformation	HP:0025104
8260	NAA10	Inguinal hernia	HP:0000023
8260	NAA10	Sparse and thin eyebrow	HP:0000535
8260	NAA10	Coarse facial features	HP:0000280
8260	NAA10	Ventricular extrasystoles	HP:0006682
8260	NAA10	Ankyloblepharon	HP:0009755
8260	NAA10	Cryptorchidism	HP:0000028
8260	NAA10	Epicanthus	HP:0000286
8260	NAA10	Facial wrinkling	HP:0009762
8260	NAA10	Ciliary body coloboma	HP:0020006
8260	NAA10	Pulmonary hypoplasia	HP:0002089
8260	NAA10	Redundant skin	HP:0001582
8260	NAA10	Hypospadias	HP:0000047
8260	NAA10	Everted upper lip vermilion	HP:0010803
8260	NAA10	Microretrognathia	HP:0000308
8260	NAA10	Chorioretinal coloboma	HP:0000567
8260	NAA10	Microphthalmia	HP:0000568
8260	NAA10	Shuffling gait	HP:0002362
8260	NAA10	Pulmonary artery stenosis	HP:0004415
8260	NAA10	Ventriculomegaly	HP:0002119
8260	NAA10	Broad hallux	HP:0010055
8260	NAA10	Hydroureter	HP:0000072
8260	NAA10	Optic nerve coloboma	HP:0000588
8260	NAA10	Abnormality of dental morphology	HP:0006482
8260	NAA10	Narrow forehead	HP:0000341
8260	NAA10	Down-sloping shoulders	HP:0200021
8260	NAA10	Renal hypoplasia	HP:0000089
8260	NAA10	Scoliosis	HP:0002650
8260	NAA10	Ventricular septal defect	HP:0001629
8260	NAA10	Atrial septal defect	HP:0001631
8260	NAA10	Camptodactyly	HP:0012385
8260	NAA10	Iris coloboma	HP:0000612
8260	NAA10	Blindness	HP:0000618
8260	NAA10	Hearing impairment	HP:0000365
8260	NAA10	Self-injurious behavior	HP:0100716
8260	NAA10	Bicuspid aortic valve	HP:0001647
8260	NAA10	Low-set, posteriorly rotated ears	HP:0000368
8260	NAA10	Low-set ears	HP:0000369
8260	NAA10	Clinodactyly of the 5th finger	HP:0004209
8260	NAA10	Neurological speech impairment	HP:0002167
8260	NAA10	Abnormality of the clavicle	HP:0000889
8260	NAA10	Lumbar hyperlordosis	HP:0002938
8260	NAA10	External ear malformation	HP:0008572
8260	NAA10	Short clavicles	HP:0000894
8260	NAA10	Hydronephrosis	HP:0000126
8260	NAA10	Nystagmus	HP:0000639
8260	NAA10	Torsade de pointes	HP:0001664
8260	NAA10	Preauricular skin tag	HP:0000384
8260	NAA10	Clinodactyly	HP:0030084
8260	NAA10	Minimal subcutaneous fat	HP:0003717
8260	NAA10	Syndactyly	HP:0001159
8260	NAA10	X-linked inheritance	HP:0001417
8260	NAA10	X-linked recessive inheritance	HP:0001419
8260	NAA10	Camptodactyly of finger	HP:0100490
8260	NAA10	Overfolded helix	HP:0000396
8260	NAA10	X-linked dominant inheritance	HP:0001423
8260	NAA10	Macrotia	HP:0000400
8260	NAA10	High, narrow palate	HP:0002705
8260	NAA10	Delayed gross motor development	HP:0002194
8260	NAA10	Recurrent otitis media	HP:0000403
8260	NAA10	Supraventricular tachycardia	HP:0004755
8260	NAA10	Ventricular tachycardia	HP:0004756
8260	NAA10	Abnormal head movements	HP:0002457
8260	NAA10	Arrhythmia	HP:0011675
8260	NAA10	Recurrent infections	HP:0002719
8260	NAA10	Depressed nasal bridge	HP:0005280
8260	NAA10	Abnormality of the dentition	HP:0000164
8260	NAA10	Fine hair	HP:0002213
8260	NAA10	Dental crowding	HP:0000678
8260	NAA10	Abnormality of the nares	HP:0005288
8260	NAA10	Delayed eruption of teeth	HP:0000684
8260	NAA10	Underdeveloped nasal alae	HP:0000430
8260	NAA10	Wide nasal bridge	HP:0000431
8260	NAA10	Agenesis of maxillary lateral incisor	HP:0000690
8260	NAA10	Misalignment of teeth	HP:0000692
8260	NAA10	Kyphoscoliosis	HP:0002751
8260	NAA10	Postnatal growth retardation	HP:0008897
8260	NAA10	Cardiogenic shock	HP:0030149
8260	NAA10	Oral cleft	HP:0000202
8260	NAA10	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
8260	NAA10	Aganglionic megacolon	HP:0002251
8260	NAA10	Enlarged naris	HP:0009931
8260	NAA10	Cleft upper lip	HP:0000204
8260	NAA10	Cutis laxa	HP:0000973
8260	NAA10	Aggressive behavior	HP:0000718
8260	NAA10	Short columella	HP:0002000
8260	NAA10	Webbed neck	HP:0000465
8260	NAA10	Deep philtrum	HP:0002002
8260	NAA10	Long thorax	HP:0100818
8260	NAA10	Prominent forehead	HP:0011220
8260	NAA10	Finger syndactyly	HP:0006101
8260	NAA10	Frontal bossing	HP:0002007
8260	NAA10	Thick upper lip vermilion	HP:0000215
8260	NAA10	Complete duplication of thumb phalanx	HP:0009943
8260	NAA10	Abnormality of cardiovascular system morphology	HP:0030680
8260	NAA10	Autistic behavior	HP:0000729
8260	NAA10	Torticollis	HP:0000473
8260	NAA10	High palate	HP:0000218
8260	NAA10	Thin upper lip vermilion	HP:0000219
8260	NAA10	Stereotypy	HP:0000733
8260	NAA10	Intellectual disability	HP:0001249
8260	NAA10	Seizures	HP:0001250
8260	NAA10	Microcornea	HP:0000482
8260	NAA10	Short stature	HP:0004322
8260	NAA10	Abnormality of the shoulder	HP:0003043
8260	NAA10	Pyloric stenosis	HP:0002021
8260	NAA10	Self-mutilation	HP:0000742
8260	NAA10	Growth delay	HP:0001510
8260	NAA10	Renal hypoplasia/aplasia	HP:0008678
8260	NAA10	Lethargy	HP:0001254
8260	NAA10	Anal atresia	HP:0002023
8260	NAA10	Aplasia/Hypoplasia of the eyebrow	HP:0100840
8260	NAA10	Hyperlordosis	HP:0003307
8260	NAA10	Excessive daytime somnolence	HP:0001262
8260	NAA10	Downslanted palpebral fissures	HP:0000494
8260	NAA10	Global developmental delay	HP:0001263
8260	NAA10	Spastic diplegia	HP:0001264
8260	NAA10	Rectal prolapse	HP:0002035
8260	NAA10	Variable expressivity	HP:0003828
8260	NAA10	Glaucoma	HP:0000501
8260	NAA10	Motor delay	HP:0001270
8260	NAA10	Kyphosis	HP:0002808
8260	NAA10	Congenital onset	HP:0003577
8260	NAA10	Visual impairment	HP:0000505
8260	NAA10	Abnormal palmar dermatoglyphics	HP:0001018
8260	NAA10	Radial deviation of finger	HP:0009466
8260	NAA10	Ptosis	HP:0000508
8260	NAA10	Microcephaly	HP:0000252
8260	NAA10	Hypertonia	HP:0001276
8260	NAA10	Pectus excavatum	HP:0000767
401474	SAMD12	Giant somatosensory evoked potentials	HP:0001312
401474	SAMD12	Nonprogressive	HP:0003680
401474	SAMD12	Intellectual disability	HP:0001249
401474	SAMD12	Amaurosis fugax	HP:0100576
401474	SAMD12	EEG with photoparoxysmal response	HP:0010852
401474	SAMD12	Autosomal dominant inheritance	HP:0000006
401474	SAMD12	Jerk-locked premyoclonus spikes	HP:0001351
401474	SAMD12	Hand tremor	HP:0002378
401474	SAMD12	Headache	HP:0002315
401474	SAMD12	Generalized myoclonic seizures	HP:0002123
401474	SAMD12	EEG with irregular generalized spike and wave complexes	HP:0001326
401474	SAMD12	EEG abnormality	HP:0002353
401474	SAMD12	Heterogeneous	HP:0001425
401474	SAMD12	Generalized-onset seizure	HP:0002197
401474	SAMD12	Generalized tonic-clonic seizures	HP:0002069
401474	SAMD12	Myoclonus	HP:0001336
401474	SAMD12	Tremor	HP:0001337
401474	SAMD12	Enhancement of the C-reflex	HP:0001340
401474	SAMD12	Adult onset	HP:0003581
401474	SAMD12	Focal-onset seizure	HP:0007359
70	ACTC1	EMG abnormality	HP:0003457
70	ACTC1	Congestive heart failure	HP:0001635
70	ACTC1	Lipoatrophy	HP:0100578
70	ACTC1	Elevated serum creatine kinase	HP:0003236
70	ACTC1	Autosomal dominant inheritance	HP:0000006
70	ACTC1	Hypertrophic cardiomyopathy	HP:0001639
70	ACTC1	Dilated cardiomyopathy	HP:0001644
70	ACTC1	Left ventricular hypertrophy	HP:0001712
70	ACTC1	Abnormality of neutrophils	HP:0001874
70	ACTC1	Ventricular arrhythmia	HP:0004308
70	ACTC1	Palmoplantar keratoderma	HP:0000982
70	ACTC1	Sensorineural hearing impairment	HP:0000407
70	ACTC1	Left ventricular noncompaction	HP:0030682
70	ACTC1	Restrictive cardiomyopathy	HP:0001723
70	ACTC1	Arrhythmia	HP:0011675
70	ACTC1	Myopathy	HP:0003198
70	ACTC1	Atrial septal defect	HP:0001631
71	ACTG1	Autosomal dominant inheritance	HP:0000006
71	ACTG1	Delayed cranial suture closure	HP:0000270
71	ACTG1	Retrognathia	HP:0000278
71	ACTG1	Pachygyria	HP:0001302
71	ACTG1	Transient ischemic attack	HP:0002326
71	ACTG1	Coarse facial features	HP:0000280
71	ACTG1	Progressive sensorineural hearing impairment	HP:0000408
71	ACTG1	Wide mouth	HP:0000154
71	ACTG1	Epicanthus	HP:0000286
71	ACTG1	Echolalia	HP:0010529
71	ACTG1	Full cheeks	HP:0000293
71	ACTG1	Retinoschisis	HP:0030502
71	ACTG1	Bilateral sensorineural hearing impairment	HP:0008619
71	ACTG1	Wide nasal bridge	HP:0000431
71	ACTG1	Specific learning disability	HP:0001328
71	ACTG1	Pointed chin	HP:0000307
71	ACTG1	Depressed nasal tip	HP:0000437
71	ACTG1	Dysphasia	HP:0002357
71	ACTG1	Microphthalmia	HP:0000568
71	ACTG1	Lissencephaly	HP:0001339
71	ACTG1	Macrogyria	HP:0007227
71	ACTG1	Hypertelorism	HP:0000316
71	ACTG1	Palpebral edema	HP:0100540
71	ACTG1	Wide nose	HP:0000445
71	ACTG1	Prominent nose	HP:0000448
71	ACTG1	Feeding difficulties	HP:0011968
71	ACTG1	Young adult onset	HP:0011462
71	ACTG1	Ventriculomegaly	HP:0002119
71	ACTG1	Hydroureter	HP:0000072
71	ACTG1	Oral cleft	HP:0000202
71	ACTG1	Optic nerve coloboma	HP:0000588
71	ACTG1	Heterochromia iridis	HP:0001100
71	ACTG1	Coloboma	HP:0000589
71	ACTG1	Aphasia	HP:0002381
71	ACTG1	Polymicrogyria	HP:0002126
71	ACTG1	Short columella	HP:0002000
71	ACTG1	Webbed neck	HP:0000465
71	ACTG1	Cerebral cortical hemiatrophy	HP:0100308
71	ACTG1	Short neck	HP:0000470
71	ACTG1	Duplication of thumb phalanx	HP:0009942
71	ACTG1	Long philtrum	HP:0000343
71	ACTG1	Scoliosis	HP:0002650
71	ACTG1	Thin upper lip vermilion	HP:0000219
71	ACTG1	Micrognathia	HP:0000347
71	ACTG1	Skeletal dysplasia	HP:0002652
71	ACTG1	Intellectual disability	HP:0001249
71	ACTG1	Seizures	HP:0001250
71	ACTG1	Short stature	HP:0004322
71	ACTG1	Microcornea	HP:0000482
71	ACTG1	Failure to thrive	HP:0001508
71	ACTG1	Iris coloboma	HP:0000612
71	ACTG1	Growth delay	HP:0001510
71	ACTG1	Thin vermilion border	HP:0000233
71	ACTG1	Euryblepharon	HP:0012905
71	ACTG1	Joint stiffness	HP:0001387
71	ACTG1	Postnatal microcephaly	HP:0005484
71	ACTG1	Hearing impairment	HP:0000365
71	ACTG1	Downslanted palpebral fissures	HP:0000494
71	ACTG1	Prominent metopic ridge	HP:0005487
71	ACTG1	Large fontanelles	HP:0000239
71	ACTG1	Global developmental delay	HP:0001263
71	ACTG1	Low posterior hairline	HP:0002162
71	ACTG1	Trigonocephaly	HP:0000243
71	ACTG1	Long nose	HP:0003189
71	ACTG1	Highly arched eyebrow	HP:0002553
71	ACTG1	Abnormality of the pinna	HP:0000377
71	ACTG1	Agenesis of corpus callosum	HP:0001274
71	ACTG1	Telecanthus	HP:0000506
71	ACTG1	Ptosis	HP:0000508
71	ACTG1	Osteochondrosis	HP:0040188
71	ACTG1	Mutism	HP:0002300
71	ACTG1	Microcephaly	HP:0000252
71	ACTG1	Long palpebral fissure	HP:0000637
71	ACTG1	Subcortical cerebral atrophy	HP:0012157
71	ACTG1	Hydronephrosis	HP:0000126
72	ACTG2	Neoplasm of the heart	HP:0100544
72	ACTG2	Umbilical hernia	HP:0001537
72	ACTG2	Multicystic kidney dysplasia	HP:0000003
72	ACTG2	Omphalocele	HP:0001539
72	ACTG2	Pancreatitis	HP:0001733
72	ACTG2	Abdominal distention	HP:0003270
72	ACTG2	Intestinal malrotation	HP:0002566
72	ACTG2	Autosomal dominant inheritance	HP:0000006
72	ACTG2	Anonychia	HP:0001798
72	ACTG2	Narrow chest	HP:0000774
72	ACTG2	Sepsis	HP:0100806
72	ACTG2	Hydroureter	HP:0000072
72	ACTG2	Aganglionic megacolon	HP:0002251
72	ACTG2	Camptodactyly of finger	HP:0100490
72	ACTG2	Hyperparathyroidism	HP:0000843
72	ACTG2	Vesicoureteral reflux	HP:0000076
72	ACTG2	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
72	ACTG2	Arachnodactyly	HP:0001166
72	ACTG2	Anteverted nares	HP:0000463
72	ACTG2	Urinary retention	HP:0000016
72	ACTG2	Broad forehead	HP:0000337
72	ACTG2	Megacystis	HP:0000021
72	ACTG2	Abnormality of cardiovascular system morphology	HP:0030680
72	ACTG2	Polyhydramnios	HP:0001561
72	ACTG2	Micrognathia	HP:0000347
72	ACTG2	Cryptorchidism	HP:0000028
72	ACTG2	Vomiting	HP:0002013
72	ACTG2	Diarrhea	HP:0002014
72	ACTG2	Dysphagia	HP:0002015
72	ACTG2	Nausea and vomiting	HP:0002017
72	ACTG2	Hypoperistalsis	HP:0100771
72	ACTG2	Constipation	HP:0002019
72	ACTG2	Abdominal situs inversus	HP:0003363
72	ACTG2	Microcolon	HP:0004388
72	ACTG2	Intestinal pseudo-obstruction	HP:0004389
72	ACTG2	Prominent nasal bridge	HP:0000426
72	ACTG2	Malnutrition	HP:0004395
72	ACTG2	Abdominal pain	HP:0002027
72	ACTG2	Joint stiffness	HP:0001387
72	ACTG2	Cleft palate	HP:0000175
72	ACTG2	Low-set, posteriorly rotated ears	HP:0000368
72	ACTG2	Death in infancy	HP:0001522
72	ACTG2	Round face	HP:0000311
72	ACTG2	Microcephaly	HP:0000252
72	ACTG2	Hydronephrosis	HP:0000126
8270	LAGE3	Cerebral atrophy	HP:0002059
8270	LAGE3	Camptodactyly of finger	HP:0100490
8270	LAGE3	Polymicrogyria	HP:0002126
8270	LAGE3	Macrotia	HP:0000400
8270	LAGE3	Narrow forehead	HP:0000341
8270	LAGE3	Pachygyria	HP:0001302
8270	LAGE3	Hemiplegia/hemiparesis	HP:0004374
8270	LAGE3	Premature birth	HP:0001622
8270	LAGE3	Hypotelorism	HP:0000601
8270	LAGE3	Micrognathia	HP:0000347
8270	LAGE3	Adducted thumb	HP:0001181
8270	LAGE3	Proteinuria	HP:0000093
8270	LAGE3	Dysmetria	HP:0001310
8270	LAGE3	Glomerulosclerosis	HP:0000096
8270	LAGE3	Intellectual disability	HP:0001249
8270	LAGE3	Seizures	HP:0001250
8270	LAGE3	Abnormality of immune system physiology	HP:0010978
8270	LAGE3	Short stature	HP:0004322
8270	LAGE3	Minimal change glomerulonephritis	HP:0012579
8270	LAGE3	Nephrotic syndrome	HP:0000100
8270	LAGE3	Abnormality of the dentition	HP:0000164
8270	LAGE3	Muscular hypotonia	HP:0001252
8270	LAGE3	Intrauterine growth retardation	HP:0001511
8270	LAGE3	Spasticity	HP:0001257
8270	LAGE3	Aqueductal stenosis	HP:0002410
8270	LAGE3	Delayed speech and language development	HP:0000750
8270	LAGE3	Global developmental delay	HP:0001263
8270	LAGE3	Nephropathy	HP:0000112
8270	LAGE3	Hypoplasia of the ear cartilage	HP:0100720
8270	LAGE3	EEG abnormality	HP:0002353
8270	LAGE3	Abnormality of the intervertebral disk	HP:0005108
8270	LAGE3	Hiatus hernia	HP:0002036
8270	LAGE3	Esotropia	HP:0000565
8270	LAGE3	Cerebellar atrophy	HP:0001272
8270	LAGE3	Microcephaly	HP:0000252
8270	LAGE3	Hypertelorism	HP:0000316
8270	LAGE3	Hypertonia	HP:0001276
8270	LAGE3	Stage 5 chronic kidney disease	HP:0003774
8270	LAGE3	Cognitive impairment	HP:0100543
8270	LAGE3	Nystagmus	HP:0000639
122961	ISCA2	Absent speech	HP:0001344
122961	ISCA2	Hyperreflexia	HP:0001347
122961	ISCA2	Abnormality of the periventricular white matter	HP:0002518
122961	ISCA2	Autosomal recessive inheritance	HP:0000007
122961	ISCA2	Optic atrophy	HP:0000648
122961	ISCA2	Visual impairment	HP:0000505
122961	ISCA2	Spasticity	HP:0001257
122961	ISCA2	Generalized hypotonia	HP:0001290
122961	ISCA2	Progressive	HP:0003676
122961	ISCA2	Vegetative state	HP:0031358
122961	ISCA2	Nystagmus	HP:0000639
122961	ISCA2	Leukodystrophy	HP:0002415
81	ACTN4	Hypoalbuminemia	HP:0003073
81	ACTN4	Focal segmental glomerulosclerosis	HP:0000097
81	ACTN4	Variable expressivity	HP:0003828
81	ACTN4	Incomplete penetrance	HP:0003829
81	ACTN4	Hyperlipidemia	HP:0003077
81	ACTN4	Hypertension	HP:0000822
81	ACTN4	Autosomal dominant inheritance	HP:0000006
81	ACTN4	Edema	HP:0000969
81	ACTN4	Slow progression	HP:0003677
81	ACTN4	Proteinuria	HP:0000093
81	ACTN4	Stage 5 chronic kidney disease	HP:0003774
81	ACTN4	Anemia	HP:0001903
221264	AK9	Cyanosis	HP:0000961
221264	AK9	Skeletal muscle atrophy	HP:0003202
221264	AK9	EMG: myopathic abnormalities	HP:0003458
221264	AK9	Triceps weakness	HP:0031108
221264	AK9	Facial palsy	HP:0010628
221264	AK9	Decreased miniature endplate potentials	HP:0003402
221264	AK9	Neck flexor weakness	HP:0003722
221264	AK9	Diplopia	HP:0000651
221264	AK9	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
221264	AK9	Ankle weakness	HP:0031374
221264	AK9	Delayed gross motor development	HP:0002194
221264	AK9	Ophthalmoparesis	HP:0000597
221264	AK9	Drowsiness	HP:0002329
221264	AK9	High palate	HP:0000218
221264	AK9	Thoracic kyphoscoliosis	HP:0005659
221264	AK9	Type 1 muscle fiber predominance	HP:0003803
221264	AK9	Shoulder girdle muscle weakness	HP:0003547
221264	AK9	Orthopnea	HP:0012764
221264	AK9	Abnormality of masticatory muscle	HP:0410011
221264	AK9	Reduced tendon reflexes	HP:0001315
221264	AK9	Hip flexor weakness	HP:0012515
221264	AK9	Reduced vital capacity	HP:0002792
221264	AK9	Restrictive ventilatory defect	HP:0002091
221264	AK9	Weakness of the intrinsic hand muscles	HP:0009005
221264	AK9	Decreased size of nerve terminals	HP:0003443
221264	AK9	Fatigable weakness of respiratory muscles	HP:0030196
221264	AK9	Weakness of long finger extensor muscles	HP:0009077
221264	AK9	Fatigable weakness of neck muscles	HP:0030199
221264	AK9	Exertional dyspnea	HP:0002875
221264	AK9	Ptosis	HP:0000508
221264	AK9	Easy fatigability	HP:0003388
221264	AK9	Respiratory failure	HP:0002878
87	ACTN1	Thrombocytopenia	HP:0001873
87	ACTN1	Increased mean platelet volume	HP:0011877
87	ACTN1	Epistaxis	HP:0000421
87	ACTN1	Autosomal dominant inheritance	HP:0000006
87	ACTN1	Anisocytosis	HP:0011273
88	ACTN2	EMG abnormality	HP:0003457
88	ACTN2	Lipoatrophy	HP:0100578
88	ACTN2	Elevated serum creatine kinase	HP:0003236
88	ACTN2	Autosomal dominant inheritance	HP:0000006
88	ACTN2	Endocardial fibroelastosis	HP:0001706
88	ACTN2	Dilated cardiomyopathy	HP:0001644
88	ACTN2	Atrioventricular block	HP:0001678
88	ACTN2	Left ventricular hypertrophy	HP:0001712
88	ACTN2	Abnormality of neutrophils	HP:0001874
88	ACTN2	Supraventricular tachycardia	HP:0004755
88	ACTN2	Palmoplantar keratoderma	HP:0000982
88	ACTN2	Atrial fibrillation	HP:0005110
88	ACTN2	Sensorineural hearing impairment	HP:0000407
88	ACTN2	Cardiomyocyte hypertrophy	HP:0031319
88	ACTN2	Left ventricular noncompaction	HP:0030682
88	ACTN2	Endocardial fibrosis	HP:0006685
88	ACTN2	Myopathy	HP:0003198
88	ACTN2	Cardiac arrest	HP:0001695
90	ACVR1	Progressive cervical vertebral spine fusion	HP:0008449
90	ACVR1	Autosomal dominant inheritance	HP:0000006
90	ACVR1	Abnormality of the first metatarsal bone	HP:0010054
90	ACVR1	Hamartoma	HP:0010566
90	ACVR1	Metaphyseal widening	HP:0003016
90	ACVR1	Aplasia/Hypoplasia of the phalanges of the hallux	HP:0010058
90	ACVR1	Subcutaneous nodule	HP:0001482
90	ACVR1	Abnormal vertebral morphology	HP:0003468
90	ACVR1	Synostosis of joints	HP:0100240
90	ACVR1	Ectopic ossification in muscle tissue	HP:0011987
90	ACVR1	Ectopic ossification in tendon tissue	HP:0011988
90	ACVR1	Conductive hearing impairment	HP:0000405
90	ACVR1	Small cervical vertebral bodies	HP:0004629
90	ACVR1	Ectopic ossification in ligament tissue	HP:0011989
90	ACVR1	Sensorineural hearing impairment	HP:0000407
90	ACVR1	Basal ganglia calcification	HP:0002135
90	ACVR1	Scoliosis	HP:0002650
90	ACVR1	Broad femoral neck	HP:0006429
90	ACVR1	Hallux valgus	HP:0001822
90	ACVR1	Limitation of joint mobility	HP:0001376
90	ACVR1	Intellectual disability	HP:0001249
90	ACVR1	Seizures	HP:0001250
90	ACVR1	Failure to thrive	HP:0001508
90	ACVR1	Intellectual disability, mild	HP:0001256
90	ACVR1	Spinal rigidity	HP:0003306
90	ACVR1	Hearing impairment	HP:0000365
90	ACVR1	Respiratory insufficiency	HP:0002093
90	ACVR1	Widely spaced teeth	HP:0000687
90	ACVR1	Anemia	HP:0001903
90	ACVR1	Clinodactyly of the 5th finger	HP:0004209
90	ACVR1	Short 1st metacarpal	HP:0010034
90	ACVR1	Glaucoma	HP:0000501
90	ACVR1	Alopecia	HP:0001596
90	ACVR1	Short hallux	HP:0010109
90	ACVR1	Respiratory failure	HP:0002878
8284	KDM5D	Y-linked inheritance	HP:0001450
8284	KDM5D	Azoospermia	HP:0000027
93	ACVR2B	Dextrocardia	HP:0001651
93	ACVR2B	Right aortic arch	HP:0012020
93	ACVR2B	Ectopia of the spleen	HP:0010452
93	ACVR2B	Autosomal dominant inheritance	HP:0000006
93	ACVR2B	Atrioventricular canal defect	HP:0006695
93	ACVR2B	Ventricular septal defect	HP:0001629
94	ACVRL1	Portal hypertension	HP:0001409
94	ACVRL1	Autosomal dominant inheritance	HP:0000006
94	ACVRL1	Amblyopia	HP:0000646
94	ACVRL1	Conjunctival telangiectasia	HP:0000524
94	ACVRL1	Hematochezia	HP:0002573
94	ACVRL1	Microcytic anemia	HP:0001935
94	ACVRL1	Heterogeneous	HP:0001425
94	ACVRL1	Palate telangiectasia	HP:0002707
94	ACVRL1	Nephrolithiasis	HP:0000787
94	ACVRL1	Pulmonary arteriovenous malformation	HP:0006548
94	ACVRL1	Transient ischemic attack	HP:0002326
94	ACVRL1	Hematuria	HP:0000790
94	ACVRL1	Visceral angiomatosis	HP:0100761
94	ACVRL1	Cavernous hemangioma	HP:0001048
94	ACVRL1	Choriocapillaris atrophy	HP:0030491
94	ACVRL1	Migraine	HP:0002076
94	ACVRL1	Pulmonary embolism	HP:0002204
94	ACVRL1	Right-to-left shunt	HP:0001694
94	ACVRL1	Epistaxis	HP:0000421
94	ACVRL1	Gastrointestinal telangiectasia	HP:0002604
94	ACVRL1	Pulmonary arterial hypertension	HP:0002092
94	ACVRL1	Dyspnea	HP:0002094
94	ACVRL1	Hepatic arteriovenous malformation	HP:0006574
94	ACVRL1	Peripheral arteriovenous fistula	HP:0100784
94	ACVRL1	Nasal mucosa telangiectasia	HP:0000434
94	ACVRL1	Hypertension	HP:0000822
94	ACVRL1	Spontaneous, recurrent epistaxis	HP:0004406
94	ACVRL1	Cholelithiasis	HP:0001081
94	ACVRL1	Hemoptysis	HP:0002105
94	ACVRL1	Cholecystitis	HP:0001082
94	ACVRL1	Cerebral hemorrhage	HP:0001342
94	ACVRL1	Gastrointestinal hemorrhage	HP:0002239
94	ACVRL1	Clubbing	HP:0001217
94	ACVRL1	Cyanosis	HP:0000961
94	ACVRL1	Gastrointestinal arteriovenous malformation	HP:0002629
94	ACVRL1	Hematemesis	HP:0002248
94	ACVRL1	Venous thrombosis	HP:0004936
94	ACVRL1	Melena	HP:0002249
94	ACVRL1	Intestinal polyposis	HP:0200008
94	ACVRL1	Nail bed telangiectasia	HP:0001232
94	ACVRL1	Retinal telangiectasia	HP:0007763
94	ACVRL1	Spinal arteriovenous malformation	HP:0002390
94	ACVRL1	Lip telangiectasia	HP:0000214
94	ACVRL1	Gastrointestinal angiodysplasia	HP:0000471
94	ACVRL1	Subarachnoid hemorrhage	HP:0002138
94	ACVRL1	Fingerpad telangiectases	HP:0006107
94	ACVRL1	Ischemic stroke	HP:0002140
94	ACVRL1	Brain abscess	HP:0030049
94	ACVRL1	Seizures	HP:0001250
94	ACVRL1	Tongue telangiectasia	HP:0000227
94	ACVRL1	Congestive heart failure	HP:0001635
94	ACVRL1	Cerebral arteriovenous malformation	HP:0002408
94	ACVRL1	Telangiectasia of the skin	HP:0100585
94	ACVRL1	Polycythemia	HP:0001901
94	ACVRL1	Anemia	HP:0001903
94	ACVRL1	Cirrhosis	HP:0001394
94	ACVRL1	Hepatic failure	HP:0001399
94	ACVRL1	Esophageal varix	HP:0002040
94	ACVRL1	Spontaneous hematomas	HP:0007420
95	ACY1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
95	ACY1	Seizures	HP:0001250
95	ACY1	Muscular hypotonia	HP:0001252
95	ACY1	Syringomyelia	HP:0003396
95	ACY1	Autosomal recessive inheritance	HP:0000007
95	ACY1	Generalized hypotonia	HP:0001290
95	ACY1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
95	ACY1	Cerebral atrophy	HP:0002059
95	ACY1	Psychomotor retardation	HP:0025356
95	ACY1	Delayed CNS myelination	HP:0002188
95	ACY1	Muscle weakness	HP:0001324
95	ACY1	Global developmental delay	HP:0001263
95	ACY1	Wide nasal bridge	HP:0000431
95	ACY1	Hyperactivity	HP:0000752
95	ACY1	Encephalopathy	HP:0001298
95	ACY1	Sensorineural hearing impairment	HP:0000407
95	ACY1	Cerebellar atrophy	HP:0001272
95	ACY1	Apnea	HP:0002104
95	ACY1	Hypertelorism	HP:0000316
95	ACY1	Generalized muscle weakness	HP:0003324
95	ACY1	Vomiting	HP:0002013
95	ACY1	Wide nose	HP:0000445
95	ACY1	Acute encephalopathy	HP:0006846
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	Oligospermia	HP:0000798
8287	USP9Y	Decreased testicular size	HP:0008734
8289	ARID1A	Small nail	HP:0001792
8289	ARID1A	Brachydactyly	HP:0001156
8289	ARID1A	Autosomal dominant inheritance	HP:0000006
8289	ARID1A	Cataract	HP:0000518
8289	ARID1A	Congenital diaphragmatic hernia	HP:0000776
8289	ARID1A	Generalized hypotonia	HP:0001290
8289	ARID1A	Long eyelashes	HP:0000527
8289	ARID1A	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	HP:0100371
8289	ARID1A	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	HP:0009239
8289	ARID1A	Coarse facial features	HP:0000280
8289	ARID1A	Dandy-Walker malformation	HP:0001305
8289	ARID1A	Wide mouth	HP:0000154
8289	ARID1A	Short distal phalanx of finger	HP:0009882
8289	ARID1A	Cryptorchidism	HP:0000028
8289	ARID1A	Recurrent respiratory infections	HP:0002205
8289	ARID1A	Macroglossia	HP:0000158
8289	ARID1A	Epicanthus	HP:0000286
8289	ARID1A	Recurrent infections	HP:0002719
8289	ARID1A	Hypoplasia of the corpus callosum	HP:0002079
8289	ARID1A	Depressed nasal bridge	HP:0005280
8289	ARID1A	Sparse scalp hair	HP:0002209
8289	ARID1A	Hypoplastic fifth toenail	HP:0011937
8289	ARID1A	Abnormality of the dentition	HP:0000164
8289	ARID1A	Low anterior hairline	HP:0000294
8289	ARID1A	Feeding difficulties in infancy	HP:0008872
8289	ARID1A	Slow-growing hair	HP:0002217
8289	ARID1A	Absent fifth toenail	HP:0200105
8289	ARID1A	Absent fifth fingernail	HP:0200104
8289	ARID1A	Bilateral single transverse palmar creases	HP:0007598
8289	ARID1A	Wide nasal bridge	HP:0000431
8289	ARID1A	Cleft palate	HP:0000175
8289	ARID1A	Thick lower lip vermilion	HP:0000179
8289	ARID1A	Generalized hirsutism	HP:0002230
8289	ARID1A	Partial agenesis of the corpus callosum	HP:0001338
8289	ARID1A	Joint hyperflexibility	HP:0005692
8289	ARID1A	Wide nose	HP:0000445
8289	ARID1A	Delayed skeletal maturation	HP:0002750
8289	ARID1A	Thick eyebrow	HP:0000574
8289	ARID1A	Feeding difficulties	HP:0011968
8289	ARID1A	Aplasia/Hypoplasia of the cerebellum	HP:0007360
8289	ARID1A	Short philtrum	HP:0000322
8289	ARID1A	Cutis marmorata	HP:0000965
8289	ARID1A	Abnormality of the hip bone	HP:0003272
8289	ARID1A	Depressed nasal ridge	HP:0000457
8289	ARID1A	Hypoplastic fifth fingernail	HP:0008398
8289	ARID1A	Anteverted nares	HP:0000463
8289	ARID1A	Ectopic kidney	HP:0000086
8289	ARID1A	Abnormality of cardiovascular system morphology	HP:0030680
8289	ARID1A	Scoliosis	HP:0002650
8289	ARID1A	Intellectual disability	HP:0001249
8289	ARID1A	Short stature	HP:0004322
8289	ARID1A	Seizures	HP:0001250
8289	ARID1A	Spina bifida occulta	HP:0003298
8289	ARID1A	Elbow dislocation	HP:0003042
8289	ARID1A	Aplasia/Hypoplasia of the patella	HP:0006498
8289	ARID1A	Muscular hypotonia	HP:0001252
8289	ARID1A	Hypertrichosis	HP:0000998
8289	ARID1A	Renal hypoplasia/aplasia	HP:0008678
8289	ARID1A	Strabismus	HP:0000486
8289	ARID1A	Intrauterine growth retardation	HP:0001511
8289	ARID1A	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0009835
8289	ARID1A	Hearing impairment	HP:0000365
8289	ARID1A	Delayed speech and language development	HP:0000750
8289	ARID1A	Global developmental delay	HP:0001263
8289	ARID1A	Coxa valga	HP:0002673
8289	ARID1A	Abnormality of the intervertebral disk	HP:0005108
8289	ARID1A	Kyphosis	HP:0002808
8289	ARID1A	Lacrimation abnormality	HP:0000632
8289	ARID1A	Visual impairment	HP:0000505
8289	ARID1A	Abnormal corpus callosum morphology	HP:0001273
8289	ARID1A	Abnormality of the pinna	HP:0000377
8289	ARID1A	Abnormality of the clavicle	HP:0000889
8289	ARID1A	Microcephaly	HP:0000252
8289	ARID1A	Ptosis	HP:0000508
8289	ARID1A	Hydronephrosis	HP:0000126
8289	ARID1A	Nystagmus	HP:0000639
8291	DYSF	Increased connective tissue	HP:0009025
8291	DYSF	EMG: myopathic abnormalities	HP:0003458
8291	DYSF	Tibialis muscle weakness	HP:0008963
8291	DYSF	Autosomal recessive inheritance	HP:0000007
8291	DYSF	Finger flexor weakness	HP:0031177
8291	DYSF	Deposits immunoreactive to beta-amyloid protein	HP:0003791
8291	DYSF	Abnormal circulating creatine kinase concentration	HP:0040081
8291	DYSF	Heterogeneous	HP:0001425
8291	DYSF	Toe walking	HP:0040083
8291	DYSF	Difficulty running	HP:0009046
8291	DYSF	Fatigue	HP:0012378
8291	DYSF	Exercise-induced myalgia	HP:0003738
8291	DYSF	Distal muscle weakness	HP:0002460
8291	DYSF	Slow progression	HP:0003677
8291	DYSF	Rapidly progressive	HP:0003678
8291	DYSF	Difficulty climbing stairs	HP:0003551
8291	DYSF	Absent muscle fiber dysferlin	HP:0030114
8291	DYSF	Muscle fiber splitting	HP:0003555
8291	DYSF	Elevated serum creatine kinase	HP:0003236
8291	DYSF	Increased variability in muscle fiber diameter	HP:0003557
8291	DYSF	Decreased/absent ankle reflexes	HP:0200101
8291	DYSF	Muscular dystrophy	HP:0003560
8291	DYSF	Lower limb muscle weakness	HP:0007340
8291	DYSF	Distal amyotrophy	HP:0003693
8291	DYSF	Weakness of the intrinsic hand muscles	HP:0009005
8291	DYSF	Absent Achilles reflex	HP:0003438
8291	DYSF	Decreased Achilles reflex	HP:0009072
8291	DYSF	Progressive proximal muscle weakness	HP:0009073
8291	DYSF	Muscle fibrillation	HP:0010546
8291	DYSF	Proximal muscle weakness	HP:0003701
8291	DYSF	Intrinsic hand muscle atrophy	HP:0008954
8291	DYSF	Limb-girdle muscle weakness	HP:0003325
8291	DYSF	Adult onset	HP:0003581
8291	DYSF	Myopathy	HP:0003198
100	ADA	Recurrent pneumonia	HP:0006532
100	ADA	Autosomal recessive inheritance	HP:0000007
100	ADA	Anterior rib cupping	HP:0000907
100	ADA	Increased circulating total IgE level	HP:0003212
100	ADA	Recurrent opportunistic infections	HP:0005390
100	ADA	Autoimmunity	HP:0002960
100	ADA	Recurrent otitis media	HP:0000403
100	ADA	Recurrent fungal infections	HP:0002841
100	ADA	Fever	HP:0001945
100	ADA	Decrease in T cell count	HP:0005403
100	ADA	Decreased circulating IgG2 level	HP:0008348
100	ADA	Lymphadenopathy	HP:0002716
100	ADA	Recurrent bacterial infections	HP:0002718
100	ADA	Platyspondyly	HP:0000926
100	ADA	B-cell lymphoma	HP:0012191
100	ADA	Decreased circulating IgA level	HP:0002720
100	ADA	Absence of lymph node germinal center	HP:0002849
100	ADA	Somatic mosaicism	HP:0001442
100	ADA	Decreased circulating total IgM	HP:0002850
100	ADA	Anti-thyroid peroxidase antibody positivity	HP:0025379
100	ADA	Thyroiditis	HP:0100646
100	ADA	Short toe	HP:0001831
100	ADA	Pneumonia	HP:0002090
100	ADA	Diffuse mesangial sclerosis	HP:0001967
100	ADA	Absent specific antibody response	HP:0005424
100	ADA	Abnormality of the metaphysis	HP:0000944
100	ADA	Thickened skin	HP:0001072
100	ADA	Asthma	HP:0002099
100	ADA	Autoimmune thrombocytopenia	HP:0001973
100	ADA	Hypothyroidism	HP:0000821
100	ADA	Alopecia	HP:0001596
100	ADA	Dry skin	HP:0000958
100	ADA	Hepatomegaly	HP:0002240
100	ADA	Reduced red cell adenosine deaminase activity	HP:0030273
100	ADA	Sepsis	HP:0100806
100	ADA	Edema	HP:0000969
100	ADA	Pulmonary insufficiency	HP:0010444
100	ADA	Recurrent viral infections	HP:0004429
100	ADA	Severe combined immunodeficiency	HP:0004430
100	ADA	Splenomegaly	HP:0001744
100	ADA	Abnormality of pelvic girdle bone morphology	HP:0002644
100	ADA	Eosinophilia	HP:0001880
100	ADA	Absent tonsils	HP:0030813
100	ADA	Pruritus	HP:0000989
100	ADA	Diarrhea	HP:0002014
100	ADA	B lymphocytopenia	HP:0010976
100	ADA	Autoimmune hemolytic anemia	HP:0001890
100	ADA	Failure to thrive	HP:0001508
100	ADA	Recurrent upper respiratory tract infections	HP:0002788
100	ADA	Nephrotic syndrome	HP:0000100
100	ADA	Allergy	HP:0012393
100	ADA	Aplasia/Hypoplasia of the eyebrow	HP:0100840
100	ADA	Lymphoma	HP:0002665
100	ADA	Lack of T cell function	HP:0005354
100	ADA	Abnormal lymphocyte morphology	HP:0004332
100	ADA	Chronic diarrhea	HP:0002028
100	ADA	Aplasia of the thymus	HP:0005359
100	ADA	Anemia	HP:0001903
100	ADA	Inflammatory abnormality of the skin	HP:0011123
100	ADA	Severe B lymphocytopenia	HP:0005365
100	ADA	Sinusitis	HP:0000246
100	ADA	Erythroderma	HP:0001019
100	ADA	Desquamation of skin soon after birth	HP:0007549
8292	COLQ	Skeletal muscle atrophy	HP:0003202
8292	COLQ	Right ventricular hypertrophy	HP:0001667
8292	COLQ	Slow pupillary light response	HP:0030211
8292	COLQ	Areflexia	HP:0001284
8292	COLQ	Facial palsy	HP:0010628
8292	COLQ	Limited extraocular movements	HP:0007941
8292	COLQ	Autosomal recessive inheritance	HP:0000007
8292	COLQ	Infantile onset	HP:0003593
8292	COLQ	Generalized hypotonia	HP:0001290
8292	COLQ	Fatigable weakness	HP:0003473
8292	COLQ	Abnormality of the immune system	HP:0002715
8292	COLQ	Distal muscle weakness	HP:0002460
8292	COLQ	Hand muscle weakness	HP:0030237
8292	COLQ	Sleep apnea	HP:0010535
8292	COLQ	Feeding difficulties in infancy	HP:0008872
8292	COLQ	Pulmonary arterial hypertension	HP:0002092
8292	COLQ	Respiratory insufficiency	HP:0002093
8292	COLQ	Mandibular prognathia	HP:0000303
8292	COLQ	Respiratory distress	HP:0002098
8292	COLQ	Frequent falls	HP:0002359
8292	COLQ	Respiratory insufficiency due to muscle weakness	HP:0002747
8292	COLQ	Exertional dyspnea	HP:0002875
8292	COLQ	Easy fatigability	HP:0003388
8292	COLQ	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
8292	COLQ	Weak cry	HP:0001612
8292	COLQ	Abnormal facial shape	HP:0001999
8292	COLQ	Triangular mouth	HP:0000207
8292	COLQ	Bilateral ptosis	HP:0001488
8292	COLQ	Neonatal respiratory distress	HP:0002643
8292	COLQ	Neck muscle weakness	HP:0000467
8292	COLQ	Waddling gait	HP:0002515
8292	COLQ	Ophthalmoparesis	HP:0000597
8292	COLQ	Scoliosis	HP:0002650
8292	COLQ	High palate	HP:0000218
8292	COLQ	Abnormal enzyme/coenzyme activity	HP:0012379
8292	COLQ	Type 1 muscle fiber predominance	HP:0003803
8292	COLQ	Dysphagia	HP:0002015
8292	COLQ	Recurrent lower respiratory tract infections	HP:0002783
8292	COLQ	Impaired mastication	HP:0005216
8292	COLQ	Intellectual disability	HP:0001249
8292	COLQ	Type 2 muscle fiber atrophy	HP:0003554
8292	COLQ	Talipes equinovarus	HP:0001762
8292	COLQ	Muscular hypotonia	HP:0001252
8292	COLQ	Hypoventilation	HP:0002791
8292	COLQ	Limb muscle weakness	HP:0003690
8292	COLQ	Hyperlordosis	HP:0003307
8292	COLQ	Scapular winging	HP:0003691
8292	COLQ	Limited wrist extension	HP:0006251
8292	COLQ	Prolonged miniature endplate currents	HP:0003436
8292	COLQ	Dysarthria	HP:0001260
8292	COLQ	Global developmental delay	HP:0001263
8292	COLQ	Poor suck	HP:0002033
8292	COLQ	Hyporeflexia	HP:0001265
8292	COLQ	Decreased size of nerve terminals	HP:0003443
8292	COLQ	Proximal muscle weakness	HP:0003701
8292	COLQ	Poor head control	HP:0002421
8292	COLQ	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	HP:0030203
8292	COLQ	Generalized muscle weakness	HP:0003324
8292	COLQ	Ptosis	HP:0000508
8292	COLQ	Myopathy	HP:0003198
8292	COLQ	Decreased muscle mass	HP:0003199
8292	COLQ	Axial muscle weakness	HP:0003327
8292	COLQ	Abnormality of the knee	HP:0002815
102	ADAM10	Hyperkeratosis	HP:0000962
102	ADAM10	Autosomal dominant inheritance	HP:0000006
103	ADAR	Spastic tetraparesis	HP:0001285
103	ADAR	Autosomal dominant inheritance	HP:0000006
103	ADAR	Myositis	HP:0100614
103	ADAR	Autosomal recessive inheritance	HP:0000007
103	ADAR	Undetectable light- and dark-adapted electroretinogram	HP:0007688
103	ADAR	Infantile onset	HP:0003593
103	ADAR	Spastic paraparesis	HP:0002313
103	ADAR	Headache	HP:0002315
103	ADAR	Multiple joint contractures	HP:0002828
103	ADAR	Rigidity	HP:0002063
103	ADAR	Hyperpigmented/hypopigmented macules	HP:0007441
103	ADAR	Gait ataxia	HP:0002066
103	ADAR	Hemiplegia/hemiparesis	HP:0004374
103	ADAR	Torsion dystonia	HP:0001304
103	ADAR	Hypoplasia of the corpus callosum	HP:0002079
103	ADAR	Acrocyanosis	HP:0001063
103	ADAR	Loss of ability to walk	HP:0006957
103	ADAR	Difficulty walking	HP:0002355
103	ADAR	Diabetes mellitus	HP:0000819
103	ADAR	Dystonia	HP:0001332
103	ADAR	Macular hypopigmentation	HP:0007988
103	ADAR	Hypothyroidism	HP:0000821
103	ADAR	Micropenis	HP:0000054
103	ADAR	Frequent falls	HP:0002359
103	ADAR	Myoclonus	HP:0001336
103	ADAR	Tremor	HP:0001337
103	ADAR	Moyamoya phenomenon	HP:0011834
103	ADAR	Developmental glaucoma	HP:0001087
103	ADAR	Loss of speech	HP:0002371
103	ADAR	Hyperreflexia	HP:0001347
103	ADAR	Ventriculomegaly	HP:0002119
103	ADAR	Developmental regression	HP:0002376
103	ADAR	Hoarse voice	HP:0001609
103	ADAR	Plagiocephaly	HP:0001357
103	ADAR	Aortic aneurysm	HP:0004942
103	ADAR	Porencephalic cyst	HP:0002132
103	ADAR	Enchondroma	HP:0030038
103	ADAR	Hemolytic anemia	HP:0001878
103	ADAR	Basal ganglia gliosis	HP:0006999
103	ADAR	Abnormal pyramidal sign	HP:0007256
103	ADAR	Arthritis	HP:0001369
103	ADAR	Scoliosis	HP:0002650
103	ADAR	Arrhinencephaly	HP:0002139
103	ADAR	Cogwheel rigidity	HP:0002396
103	ADAR	Elevated hepatic transaminase	HP:0002910
103	ADAR	Large beaked nose	HP:0003683
103	ADAR	Calcification of the aorta	HP:0004963
103	ADAR	Hypertrophic cardiomyopathy	HP:0001639
103	ADAR	Cardiomegaly	HP:0001640
103	ADAR	Leukodystrophy	HP:0002415
103	ADAR	Low-set ears	HP:0000369
103	ADAR	Eyelid coloboma	HP:0000625
103	ADAR	Nystagmus	HP:0000639
103	ADAR	Horizontal pendular nystagmus	HP:0007811
103	ADAR	Optic atrophy	HP:0000648
103	ADAR	Intellectual disability, profound	HP:0002187
103	ADAR	Multifocal cerebral white matter abnormalities	HP:0007052
103	ADAR	Astrocytosis	HP:0002446
103	ADAR	Basal ganglia cysts	HP:0006799
103	ADAR	Autoimmunity	HP:0002960
103	ADAR	Increased serum interferon-gamma level	HP:0030356
103	ADAR	Hepatosplenomegaly	HP:0001433
103	ADAR	Small basal ganglia	HP:0012697
103	ADAR	Brain atrophy	HP:0012444
103	ADAR	Upper limb muscle weakness	HP:0003484
103	ADAR	Babinski sign	HP:0003487
103	ADAR	Raynaud phenomenon	HP:0030880
103	ADAR	Unexplained fevers	HP:0001955
103	ADAR	Extrapyramidal muscular rigidity	HP:0007076
103	ADAR	Lower limb muscle weakness	HP:0007340
103	ADAR	Chronic lymphatic leukemia	HP:0005550
103	ADAR	Prolonged neonatal jaundice	HP:0006579
103	ADAR	Macule	HP:0012733
103	ADAR	Dry skin	HP:0000958
103	ADAR	Demyelinating peripheral neuropathy	HP:0007108
103	ADAR	Cutis marmorata	HP:0000965
103	ADAR	Neonatal alloimmune thrombocytopenia	HP:0004809
103	ADAR	Panniculitis	HP:0012490
103	ADAR	Degeneration of the striatum	HP:0040140
103	ADAR	Spastic tetraplegia	HP:0002510
103	ADAR	Atrophy/Degeneration involving the caudate nucleus	HP:0007374
103	ADAR	Cerebral calcification	HP:0002514
103	ADAR	Dysphagia	HP:0002015
103	ADAR	Muscle stiffness	HP:0003552
103	ADAR	Irritability	HP:0000737
103	ADAR	Tetraparesis	HP:0002273
103	ADAR	Short stature	HP:0004322
103	ADAR	Seizures	HP:0001250
103	ADAR	Lipoatrophy	HP:0100578
103	ADAR	Gastroesophageal reflux	HP:0002020
103	ADAR	Failure to thrive	HP:0001508
103	ADAR	Chronic CSF lymphocytosis	HP:0009704
103	ADAR	Muscular hypotonia of the trunk	HP:0008936
103	ADAR	Intellectual disability, mild	HP:0001256
103	ADAR	Dysarthria	HP:0001260
103	ADAR	Increased CSF interferon alpha	HP:0009709
103	ADAR	Chilblains	HP:0009710
103	ADAR	Delayed speech and language development	HP:0000750
103	ADAR	Global developmental delay	HP:0001263
103	ADAR	Choreoathetosis	HP:0001266
103	ADAR	Infantile muscular hypotonia	HP:0008947
103	ADAR	Macular hyperpigmentation	HP:0011509
103	ADAR	Ptosis	HP:0000508
103	ADAR	Microcephaly	HP:0000252
57449	PLEKHG5	Joint contracture of the hand	HP:0009473
57449	PLEKHG5	Areflexia	HP:0001284
57449	PLEKHG5	Autosomal recessive inheritance	HP:0000007
57449	PLEKHG5	Childhood onset	HP:0011463
57449	PLEKHG5	Waddling gait	HP:0002515
57449	PLEKHG5	Scoliosis	HP:0002650
57449	PLEKHG5	Distal muscle weakness	HP:0002460
57449	PLEKHG5	Rapidly progressive	HP:0003678
57449	PLEKHG5	Difficulty climbing stairs	HP:0003551
57449	PLEKHG5	Pes cavus	HP:0001761
57449	PLEKHG5	Talipes equinovarus	HP:0001762
57449	PLEKHG5	Spinal muscular atrophy	HP:0007269
57449	PLEKHG5	Hammertoe	HP:0001765
57449	PLEKHG5	Decreased motor nerve conduction velocity	HP:0003431
57449	PLEKHG5	Hyperlordosis	HP:0003307
57449	PLEKHG5	Distal amyotrophy	HP:0003693
57449	PLEKHG5	Scapuloperoneal amyotrophy	HP:0003697
57449	PLEKHG5	Difficulty walking	HP:0002355
57449	PLEKHG5	Mildly elevated creatine kinase	HP:0008180
57449	PLEKHG5	EMG: neuropathic changes	HP:0003445
57449	PLEKHG5	Proximal muscle weakness	HP:0003701
57449	PLEKHG5	Distal sensory impairment	HP:0002936
57449	PLEKHG5	Respiratory insufficiency due to muscle weakness	HP:0002747
57449	PLEKHG5	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
57449	PLEKHG5	Abnormal lower motor neuron morphology	HP:0002366
107	ADCY1	Autosomal recessive inheritance	HP:0000007
107	ADCY1	Prelingual sensorineural hearing impairment	HP:0000399
8301	PICALM	Somatic mutation	HP:0001428
8301	PICALM	Autosomal dominant inheritance	HP:0000006
8301	PICALM	Acute myeloid leukemia	HP:0004808
8302	KLRC4	Abnormal blistering of the skin	HP:0008066
8302	KLRC4	Avascular necrosis	HP:0010885
8302	KLRC4	Cataract	HP:0000518
8302	KLRC4	Myositis	HP:0100614
8302	KLRC4	Meningitis	HP:0001287
8302	KLRC4	Gait disturbance	HP:0001288
8302	KLRC4	Confusion	HP:0001289
8302	KLRC4	Arthralgia	HP:0002829
8302	KLRC4	Vertigo	HP:0002321
8302	KLRC4	Gangrene	HP:0100758
8302	KLRC4	Fever	HP:0001945
8302	KLRC4	Pleural effusion	HP:0002202
8302	KLRC4	Oral ulcer	HP:0000155
8302	KLRC4	Lymphadenopathy	HP:0002716
8302	KLRC4	Pulmonary embolism	HP:0002204
8302	KLRC4	Migraine	HP:0002076
8302	KLRC4	Weight loss	HP:0001824
8302	KLRC4	Acne	HP:0001061
8302	KLRC4	Pericarditis	HP:0001701
8302	KLRC4	Cranial nerve paralysis	HP:0006824
8302	KLRC4	Retrobulbar optic neuritis	HP:0100654
8302	KLRC4	Memory impairment	HP:0002354
8302	KLRC4	Pleuritis	HP:0002102
8302	KLRC4	Hemoptysis	HP:0002105
8302	KLRC4	Orchitis	HP:0100796
8302	KLRC4	Gastrointestinal hemorrhage	HP:0002239
8302	KLRC4	Pulmonary infiltrates	HP:0002113
8302	KLRC4	Hyperreflexia	HP:0001347
8302	KLRC4	Arterial thrombosis	HP:0004420
8302	KLRC4	Pancreatitis	HP:0001733
8302	KLRC4	Venous thrombosis	HP:0004936
8302	KLRC4	Developmental regression	HP:0002376
8302	KLRC4	Vasculitis	HP:0002633
8302	KLRC4	Paresthesia	HP:0003401
8302	KLRC4	Keratoconjunctivitis sicca	HP:0001097
8302	KLRC4	Subcutaneous nodule	HP:0001482
8302	KLRC4	Cerebral ischemia	HP:0002637
8302	KLRC4	Encephalitis	HP:0002383
8302	KLRC4	Splenomegaly	HP:0001744
8302	KLRC4	Renal insufficiency	HP:0000083
8302	KLRC4	Increased intracranial pressure	HP:0002516
8302	KLRC4	Glomerulopathy	HP:0100820
8302	KLRC4	Abnormal pyramidal sign	HP:0007256
8302	KLRC4	Arthritis	HP:0001369
8302	KLRC4	Fatigue	HP:0012378
8302	KLRC4	Irritability	HP:0000737
8302	KLRC4	Nausea and vomiting	HP:0002017
8302	KLRC4	Papule	HP:0200034
8302	KLRC4	Seizures	HP:0001250
8302	KLRC4	Recurrent aphthous stomatitis	HP:0011107
8302	KLRC4	Ataxia	HP:0001251
8302	KLRC4	Abnormal myocardium morphology	HP:0001637
8302	KLRC4	Photophobia	HP:0000613
8302	KLRC4	Immunologic hypersensitivity	HP:0100326
8302	KLRC4	Malabsorption	HP:0002024
8302	KLRC4	Retinopathy	HP:0000488
8302	KLRC4	Endocarditis	HP:0100584
8302	KLRC4	Blindness	HP:0000618
8302	KLRC4	Abdominal pain	HP:0002027
8302	KLRC4	Mitral regurgitation	HP:0001653
8302	KLRC4	Hemiparesis	HP:0001269
8302	KLRC4	Anorexia	HP:0002039
8302	KLRC4	Myocardial infarction	HP:0001658
8302	KLRC4	Aortic regurgitation	HP:0001659
8302	KLRC4	Myalgia	HP:0003326
111	ADCY5	Congestive heart failure	HP:0001635
111	ADCY5	Hyperreflexia	HP:0001347
111	ADCY5	Anxiety	HP:0000739
111	ADCY5	Juvenile onset	HP:0003621
111	ADCY5	Autosomal dominant inheritance	HP:0000006
111	ADCY5	Orofacial dyskinesia	HP:0002310
111	ADCY5	Muscular hypotonia of the trunk	HP:0008936
111	ADCY5	Gait disturbance	HP:0001288
111	ADCY5	Dysarthria	HP:0001260
111	ADCY5	Dilated cardiomyopathy	HP:0001644
111	ADCY5	Limb hypertonia	HP:0002509
111	ADCY5	Resting tremor	HP:0002322
111	ADCY5	Delayed gross motor development	HP:0002194
111	ADCY5	Difficulty walking	HP:0002355
111	ADCY5	Dystonia	HP:0001332
111	ADCY5	Dyskinesia	HP:0100660
111	ADCY5	Motor delay	HP:0001270
111	ADCY5	Chorea	HP:0002072
111	ADCY5	Myoclonus	HP:0001336
111	ADCY5	Facial myokymia	HP:0000317
114798	SLITRK1	Echolalia	HP:0010529
114798	SLITRK1	Obsessive-compulsive behavior	HP:0000722
114798	SLITRK1	Multifactorial inheritance	HP:0001426
114798	SLITRK1	Phonic tics	HP:0100035
114798	SLITRK1	Motor tics	HP:0100034
114798	SLITRK1	Autosomal dominant inheritance	HP:0000006
114798	SLITRK1	Self-mutilation	HP:0000742
114798	SLITRK1	Hair-pulling	HP:0012167
114798	SLITRK1	Sleep disturbance	HP:0002360
114798	SLITRK1	Attention deficit hyperactivity disorder	HP:0007018
114798	SLITRK1	Alopecia	HP:0001596
114798	SLITRK1	Aggressive behavior	HP:0000718
112	ADCY6	Limitation of joint mobility	HP:0001376
112	ADCY6	EMG abnormality	HP:0003457
112	ADCY6	Respiratory distress	HP:0002098
112	ADCY6	Reduced tendon reflexes	HP:0001315
112	ADCY6	Muscular hypotonia	HP:0001252
112	ADCY6	Areflexia	HP:0001284
112	ADCY6	Arthrogryposis multiplex congenita	HP:0002804
112	ADCY6	Facial diplegia	HP:0001349
112	ADCY6	Autosomal recessive inheritance	HP:0000007
112	ADCY6	Generalized hypotonia	HP:0001290
112	ADCY6	Oral-pharyngeal dysphagia	HP:0200136
114803	MYSM1	Low-set ears	HP:0000369
114803	MYSM1	Thrombocytopenia	HP:0001873
114803	MYSM1	Eczema	HP:0000964
114803	MYSM1	Bone marrow hypocellularity	HP:0005528
114803	MYSM1	Midface retrusion	HP:0011800
114803	MYSM1	Congenital onset	HP:0003577
114803	MYSM1	Decreased antibody level in blood	HP:0004313
114803	MYSM1	Leukopenia	HP:0001882
114803	MYSM1	Dry skin	HP:0000958
114803	MYSM1	Anemia	HP:0001903
114803	MYSM1	Abnormal facial shape	HP:0001999
254065	BRWD3	Macrocephaly	HP:0000256
254065	BRWD3	Pes planus	HP:0001763
254065	BRWD3	Muscular hypotonia	HP:0001252
254065	BRWD3	Intellectual disability, mild	HP:0001256
254065	BRWD3	Generalized hypotonia	HP:0001290
254065	BRWD3	X-linked recessive inheritance	HP:0001419
254065	BRWD3	Delayed speech and language development	HP:0000750
254065	BRWD3	Macrotia	HP:0000400
254065	BRWD3	Long face	HP:0000276
254065	BRWD3	Prominent forehead	HP:0011220
254065	BRWD3	Frontal bossing	HP:0002007
254065	BRWD3	Cupped ear	HP:0000378
254065	BRWD3	Cryptorchidism	HP:0000028
57459	GATAD2B	Tics	HP:0100033
57459	GATAD2B	Short philtrum	HP:0000322
57459	GATAD2B	Blepharophimosis	HP:0000581
57459	GATAD2B	Long fingers	HP:0100807
57459	GATAD2B	Sparse hair	HP:0008070
57459	GATAD2B	Autosomal dominant inheritance	HP:0000006
57459	GATAD2B	Broad nasal tip	HP:0000455
57459	GATAD2B	Infantile onset	HP:0003593
57459	GATAD2B	Long toe	HP:0010511
57459	GATAD2B	Broad forehead	HP:0000337
57459	GATAD2B	Wide mouth	HP:0000154
57459	GATAD2B	Thin upper lip vermilion	HP:0000219
57459	GATAD2B	Hypermetropia	HP:0000540
57459	GATAD2B	Language impairment	HP:0002463
57459	GATAD2B	Poor speech	HP:0002465
57459	GATAD2B	Narrow palpebral fissure	HP:0045025
57459	GATAD2B	Strabismus	HP:0000486
57459	GATAD2B	Neonatal hypotonia	HP:0001319
57459	GATAD2B	Deeply set eye	HP:0000490
57459	GATAD2B	Inappropriate laughter	HP:0000748
57459	GATAD2B	Global developmental delay	HP:0001263
57459	GATAD2B	Wide nasal bridge	HP:0000431
57459	GATAD2B	Intellectual disability, severe	HP:0010864
57459	GATAD2B	Hyperactivity	HP:0000752
57459	GATAD2B	Hypertelorism	HP:0000316
8309	ACOX2	Vitamin D deficiency	HP:0100512
8309	ACOX2	Hypolipidemia	HP:0045014
8309	ACOX2	Slurred speech	HP:0001350
8309	ACOX2	Autosomal recessive inheritance	HP:0000007
8309	ACOX2	Intellectual disability, mild	HP:0001256
8309	ACOX2	Infantile onset	HP:0003593
8309	ACOX2	Steatorrhea	HP:0002570
8309	ACOX2	Dysmetria	HP:0001310
8309	ACOX2	Delayed speech and language development	HP:0000750
8309	ACOX2	Global developmental delay	HP:0001263
8309	ACOX2	Vertical supranuclear gaze palsy	HP:0000511
120	ADD3	Poor speech	HP:0002465
120	ADD3	Exotropia	HP:0000577
120	ADD3	Seizures	HP:0001250
120	ADD3	Autosomal recessive inheritance	HP:0000007
120	ADD3	Infantile onset	HP:0003593
120	ADD3	Spastic tetraplegia	HP:0002510
120	ADD3	Global developmental delay	HP:0001263
120	ADD3	Spastic diplegia	HP:0001264
120	ADD3	Variable expressivity	HP:0003828
120	ADD3	Abnormal pyramidal sign	HP:0007256
120	ADD3	Microcephaly	HP:0000252
120	ADD3	Supranuclear gaze palsy	HP:0000605
120	ADD3	Cognitive impairment	HP:0100543
120	ADD3	Nystagmus	HP:0000639
120	ADD3	Dysphagia	HP:0002015
8312	AXIN1	Heterogeneous	HP:0001425
8312	AXIN1	Uterus didelphys	HP:0003762
8312	AXIN1	Somatic mutation	HP:0001428
8312	AXIN1	Micronodular cirrhosis	HP:0001413
8312	AXIN1	Autosomal dominant inheritance	HP:0000006
8312	AXIN1	Ureteral duplication	HP:0000073
8312	AXIN1	Hepatocellular carcinoma	HP:0001402
8312	AXIN1	Subacute progressive viral hepatitis	HP:0006572
57465	TBC1D24	Sirenomelia	HP:0010497
57465	TBC1D24	Anonychia	HP:0001798
57465	TBC1D24	Cataract	HP:0000518
57465	TBC1D24	Autosomal dominant inheritance	HP:0000006
57465	TBC1D24	Autosomal recessive inheritance	HP:0000007
57465	TBC1D24	Infantile onset	HP:0003593
57465	TBC1D24	Generalized hypotonia	HP:0001290
57465	TBC1D24	Wide nasal base	HP:0012810
57465	TBC1D24	Cerebral atrophy	HP:0002059
57465	TBC1D24	Psychomotor retardation	HP:0025356
57465	TBC1D24	Prominent occiput	HP:0000269
57465	TBC1D24	Lumbar scoliosis	HP:0004626
57465	TBC1D24	Short 5th finger	HP:0009237
57465	TBC1D24	Generalized tonic-clonic seizures	HP:0002069
57465	TBC1D24	Congenital nystagmus	HP:0006934
57465	TBC1D24	Abnormality of extrapyramidal motor function	HP:0002071
57465	TBC1D24	Coarse facial features	HP:0000280
57465	TBC1D24	Dandy-Walker malformation	HP:0001305
57465	TBC1D24	Absent fingernail	HP:0001817
57465	TBC1D24	Polyhydramnios	HP:0001561
57465	TBC1D24	Adrenal hyperplasia	HP:0008221
57465	TBC1D24	Epicanthus	HP:0000286
57465	TBC1D24	Cystic renal dysplasia	HP:0000800
57465	TBC1D24	Myopia	HP:0000545
57465	TBC1D24	Low anterior hairline	HP:0000294
57465	TBC1D24	Photosensitive tonic-clonic seizures	HP:0007207
57465	TBC1D24	EEG with irregular generalized spike and wave complexes	HP:0001326
57465	TBC1D24	EEG abnormality	HP:0002353
57465	TBC1D24	Malalignment of the great toenail	HP:0031282
57465	TBC1D24	Respiratory distress	HP:0002098
57465	TBC1D24	Dystonia	HP:0001332
57465	TBC1D24	Myoclonus	HP:0001336
57465	TBC1D24	Hypertelorism	HP:0000316
57465	TBC1D24	Visual loss	HP:0000572
57465	TBC1D24	Anterior plagiocephaly	HP:0011326
57465	TBC1D24	Ambiguous genitalia	HP:0000062
57465	TBC1D24	Poor visual behavior for age	HP:0025152
57465	TBC1D24	Febrile seizures	HP:0002373
57465	TBC1D24	Developmental regression	HP:0002376
57465	TBC1D24	Absence seizure	HP:0002121
57465	TBC1D24	Generalized myoclonic seizures	HP:0002123
57465	TBC1D24	Polymicrogyria	HP:0002126
57465	TBC1D24	Focal impaired awareness seizure	HP:0002384
57465	TBC1D24	Congenital hypothyroidism	HP:0000851
57465	TBC1D24	Status epilepticus	HP:0002133
57465	TBC1D24	Long philtrum	HP:0000343
57465	TBC1D24	Abnormal pyramidal sign	HP:0007256
57465	TBC1D24	Leber optic atrophy	HP:0001112
57465	TBC1D24	Sagittal craniosynostosis	HP:0004442
57465	TBC1D24	Abnormal heart morphology	HP:0001627
57465	TBC1D24	Arrhinencephaly	HP:0002139
57465	TBC1D24	Progressive	HP:0003676
57465	TBC1D24	Slow progression	HP:0003677
57465	TBC1D24	Peripheral neuropathy	HP:0009830
57465	TBC1D24	Thrombocytosis	HP:0001894
57465	TBC1D24	Renal agenesis	HP:0000104
57465	TBC1D24	Blindness	HP:0000618
57465	TBC1D24	Attention deficit hyperactivity disorder	HP:0007018
57465	TBC1D24	Aplasia/Hypoplasia of the phalanges of the 2nd toe	HP:0010347
57465	TBC1D24	Postnatal microcephaly	HP:0005484
57465	TBC1D24	Hearing impairment	HP:0000365
57465	TBC1D24	11 pairs of ribs	HP:0000878
57465	TBC1D24	Delayed fine motor development	HP:0010862
57465	TBC1D24	Low-set ears	HP:0000369
57465	TBC1D24	Clinodactyly of the 5th finger	HP:0004209
57465	TBC1D24	Increased urine alpha-ketoglutarate concentration	HP:0012402
57465	TBC1D24	Nail dysplasia	HP:0002164
57465	TBC1D24	Nephrocalcinosis	HP:0000121
57465	TBC1D24	Hemivertebrae	HP:0002937
57465	TBC1D24	Hydronephrosis	HP:0000126
57465	TBC1D24	Brachydactyly	HP:0001156
57465	TBC1D24	Optic atrophy	HP:0000648
57465	TBC1D24	Delayed CNS myelination	HP:0002188
57465	TBC1D24	Excessive daytime sleepiness	HP:0002189
57465	TBC1D24	Abnormality of placental membranes	HP:0011409
57465	TBC1D24	Sensorineural hearing impairment	HP:0000407
57465	TBC1D24	Downturned corners of mouth	HP:0002714
57465	TBC1D24	Short distal phalanx of finger	HP:0009882
57465	TBC1D24	Atresia of the external auditory canal	HP:0000413
57465	TBC1D24	Bulbous nose	HP:0000414
57465	TBC1D24	Language impairment	HP:0002463
57465	TBC1D24	Delayed myelination	HP:0012448
57465	TBC1D24	Macrodontia of permanent maxillary central incisor	HP:0000675
57465	TBC1D24	Bilateral sensorineural hearing impairment	HP:0008619
57465	TBC1D24	Severe muscular hypotonia	HP:0006829
57465	TBC1D24	Equinovarus deformity	HP:0008110
57465	TBC1D24	Triphalangeal thumb	HP:0001199
57465	TBC1D24	Wide nasal bridge	HP:0000431
57465	TBC1D24	Widely spaced teeth	HP:0000687
57465	TBC1D24	Aspiration pneumonia	HP:0011951
57465	TBC1D24	Cleft palate	HP:0000175
57465	TBC1D24	Diffuse cerebellar atrophy	HP:0100275
57465	TBC1D24	Thick lower lip vermilion	HP:0000179
57465	TBC1D24	Cutaneous syndactyly	HP:0012725
57465	TBC1D24	Abnormality of the skin	HP:0000951
57465	TBC1D24	Double outlet right ventricle	HP:0001719
57465	TBC1D24	Delayed eruption of permanent teeth	HP:0000696
57465	TBC1D24	Capillary hemangioma	HP:0005306
57465	TBC1D24	Broad alveolar ridges	HP:0000187
57465	TBC1D24	Toenail dysplasia	HP:0100797
57465	TBC1D24	Narrow palate	HP:0000189
57465	TBC1D24	Small cerebellar cortex	HP:0031423
57465	TBC1D24	Focal-onset seizure	HP:0007359
57465	TBC1D24	Prominent nose	HP:0000448
57465	TBC1D24	Feeding difficulties	HP:0011968
57465	TBC1D24	Open mouth	HP:0000194
57465	TBC1D24	Progressive hearing impairment	HP:0001730
57465	TBC1D24	Epileptic encephalopathy	HP:0200134
57465	TBC1D24	Broad nasal tip	HP:0000455
57465	TBC1D24	Short lingual frenulum	HP:0000200
57465	TBC1D24	Diffuse cerebral atrophy	HP:0002506
57465	TBC1D24	Aggressive behavior	HP:0000718
57465	TBC1D24	Anteverted nares	HP:0000463
57465	TBC1D24	Abnormal fingernail morphology	HP:0001231
57465	TBC1D24	Bilateral ptosis	HP:0001488
57465	TBC1D24	Nail dystrophy	HP:0008404
57465	TBC1D24	Profound sensorineural hearing impairment	HP:0011476
57465	TBC1D24	Gingival overgrowth	HP:0000212
57465	TBC1D24	Frontal bossing	HP:0002007
57465	TBC1D24	Autistic behavior	HP:0000729
57465	TBC1D24	High palate	HP:0000218
57465	TBC1D24	Thickened nuchal skin fold	HP:0000474
57465	TBC1D24	Thin upper lip vermilion	HP:0000219
57465	TBC1D24	Intellectual disability	HP:0001249
57465	TBC1D24	Irritability	HP:0000737
57465	TBC1D24	Seizures	HP:0001250
57465	TBC1D24	Spina bifida occulta	HP:0003298
57465	TBC1D24	Muscular hypotonia	HP:0001252
57465	TBC1D24	Recurrent upper respiratory tract infections	HP:0002788
57465	TBC1D24	Gastroesophageal reflux	HP:0002020
57465	TBC1D24	Strabismus	HP:0000486
57465	TBC1D24	Generalized neonatal hypotonia	HP:0008935
57465	TBC1D24	Everted lower lip vermilion	HP:0000232
57465	TBC1D24	Intellectual disability, mild	HP:0001256
57465	TBC1D24	Dysarthria	HP:0001260
57465	TBC1D24	Global developmental delay	HP:0001263
57465	TBC1D24	Hyporeflexia	HP:0001265
57465	TBC1D24	Poor suck	HP:0002033
57465	TBC1D24	Infantile muscular hypotonia	HP:0008947
57465	TBC1D24	Variable expressivity	HP:0003828
57465	TBC1D24	Mental deterioration	HP:0001268
57465	TBC1D24	Hemiparesis	HP:0001269
57465	TBC1D24	Polyneuropathy	HP:0001271
57465	TBC1D24	Brachycephaly	HP:0000248
57465	TBC1D24	High myopia	HP:0011003
57465	TBC1D24	Microcephaly	HP:0000252
57465	TBC1D24	Hemiplegia	HP:0002301
8313	AXIN2	Neoplasm of the stomach	HP:0006753
8313	AXIN2	Sparse scalp hair	HP:0002209
8313	AXIN2	Oligodontia	HP:0000677
8313	AXIN2	Autosomal dominant inheritance	HP:0000006
8313	AXIN2	Hypoplasia of the maxilla	HP:0000327
8313	AXIN2	Uterine leiomyosarcoma	HP:0002891
8313	AXIN2	Adenomatous colonic polyposis	HP:0005227
8313	AXIN2	Renal cell carcinoma	HP:0005584
8313	AXIN2	Microdontia	HP:0000691
8313	AXIN2	Somatic mutation	HP:0001428
8313	AXIN2	Transitional cell carcinoma of the bladder	HP:0006740
8313	AXIN2	Colon cancer	HP:0003003
8313	AXIN2	Micrognathia	HP:0000347
8313	AXIN2	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
8313	AXIN2	Colorectal polyposis	HP:0200063
8314	BAP1	Photopsia	HP:0030786
8314	BAP1	Iris melanoma	HP:0011524
8314	BAP1	Autosomal dominant inheritance	HP:0000006
8314	BAP1	Freckling	HP:0001480
8314	BAP1	Neoplasm of the pancreas	HP:0002894
8314	BAP1	Abnormal visual accommodation	HP:0030800
8314	BAP1	Renal cell carcinoma	HP:0005584
8314	BAP1	Choroidal melanoma	HP:0012054
8314	BAP1	Abnormality of extrapyramidal motor function	HP:0002071
8314	BAP1	Ciliary body melanoma	HP:0012055
8314	BAP1	Cutaneous melanoma	HP:0012056
8314	BAP1	Ocular pain	HP:0200026
8314	BAP1	Abnormality of the lymphatic system	HP:0100763
8314	BAP1	Abnormality of refraction	HP:0000539
8314	BAP1	Metamorphopsia	HP:0012508
8314	BAP1	Retinal detachment	HP:0000541
8314	BAP1	Vitreous hemorrhage	HP:0007902
8314	BAP1	Neoplasm of the stomach	HP:0006753
8314	BAP1	Ocular hypertension	HP:0007906
8314	BAP1	Uveal melanoma	HP:0007716
8314	BAP1	Retinopathy	HP:0000488
8314	BAP1	Zonular cataract	HP:0010920
8314	BAP1	Meningioma	HP:0002858
8314	BAP1	Mydriasis	HP:0011499
8314	BAP1	Neoplasm of the breast	HP:0100013
8314	BAP1	Melanoma	HP:0002861
8314	BAP1	Inferior lens subluxation	HP:0008494
8314	BAP1	Nevus	HP:0003764
8314	BAP1	Inflammatory abnormality of the eye	HP:0100533
8314	BAP1	Abnormal hair morphology	HP:0001595
8314	BAP1	Visual loss	HP:0000572
8314	BAP1	Dry skin	HP:0000958
8314	BAP1	Lung adenocarcinoma	HP:0030078
57468	SLC12A5	Intellectual disability	HP:0001249
57468	SLC12A5	Excessive salivation	HP:0003781
57468	SLC12A5	Generalized tonic-clonic seizures with focal onset	HP:0007334
57468	SLC12A5	Autosomal recessive inheritance	HP:0000007
57468	SLC12A5	Developmental regression	HP:0002376
57468	SLC12A5	Infantile onset	HP:0003593
57468	SLC12A5	Cerebral atrophy	HP:0002059
57468	SLC12A5	Postnatal microcephaly	HP:0005484
57468	SLC12A5	Inability to walk	HP:0002540
57468	SLC12A5	Delayed CNS myelination	HP:0002188
57468	SLC12A5	Global developmental delay	HP:0001263
57468	SLC12A5	Status epilepticus	HP:0002133
57468	SLC12A5	Abnormal pyramidal sign	HP:0007256
57468	SLC12A5	Hemiclonic seizures	HP:0006813
8318	CDC45	Duodenal stenosis	HP:0100867
8318	CDC45	Microtia, third degree	HP:0011267
8318	CDC45	Aplastic clavicle	HP:0006660
8318	CDC45	Abnormality of the ribs	HP:0000772
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	Bowing of the legs	HP:0002979
8318	CDC45	Preaxial polydactyly	HP:0100258
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	Specific learning disability	HP:0001328
8318	CDC45	Submucous cleft hard palate	HP:0000176
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	Hypoplastic labia minora	HP:0000064
8318	CDC45	Feeding difficulties	HP:0011968
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	Mandibular aplasia	HP:0009939
8318	CDC45	Craniosynostosis	HP:0001363
8318	CDC45	2-3 toe syndactyly	HP:0004691
8318	CDC45	Clitoral hypertrophy	HP:0008665
8318	CDC45	Scoliosis	HP:0002650
8318	CDC45	High palate	HP:0000218
8318	CDC45	Sagittal craniosynostosis	HP:0004442
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	Microtia	HP:0008551
8318	CDC45	Anal atresia	HP:0002023
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	Clinodactyly of the 5th finger	HP:0004209
8318	CDC45	Low-set ears	HP:0000369
8318	CDC45	Microcephaly	HP:0000252
8318	CDC45	Progressive microcephaly	HP:0000253
8322	FZD4	Peripheral retinal avascularization	HP:0007685
8322	FZD4	Recurrent fractures	HP:0002757
8322	FZD4	Autosomal dominant inheritance	HP:0000006
8322	FZD4	Infantile onset	HP:0003593
8322	FZD4	Retinal neovascularization	HP:0030666
8322	FZD4	Blindness	HP:0000618
8322	FZD4	Subcapsular cataract	HP:0000523
8322	FZD4	Tractional retinal detachment	HP:0007917
8322	FZD4	Small for gestational age	HP:0001518
8322	FZD4	Reduced visual acuity	HP:0007663
8322	FZD4	Abnormal macular morphology	HP:0001103
8322	FZD4	Retinal arteriolar tortuosity	HP:0001136
8322	FZD4	Posterior vitreous detachment	HP:0001489
8322	FZD4	Falciform retinal fold	HP:0001493
8322	FZD4	Premature birth	HP:0001622
8322	FZD4	Exudative vitreoretinopathy	HP:0030490
8322	FZD4	Retinal exudate	HP:0001147
8322	FZD4	Slow progression	HP:0003677
8322	FZD4	Retinal detachment	HP:0000541
8322	FZD4	Vitreous hemorrhage	HP:0007902
8323	FZD6	Autosomal recessive inheritance	HP:0000007
8323	FZD6	Onycholysis	HP:0001806
8323	FZD6	Onychauxis	HP:0012542
132	ADK	Macrocephaly	HP:0000256
132	ADK	Skeletal muscle atrophy	HP:0003202
132	ADK	Decreased liver function	HP:0001410
132	ADK	Autosomal recessive inheritance	HP:0000007
132	ADK	Infantile onset	HP:0003593
132	ADK	Generalized hypotonia	HP:0001290
132	ADK	Cerebral atrophy	HP:0002059
132	ADK	Coarctation of aorta	HP:0001680
132	ADK	Frontal bossing	HP:0002007
132	ADK	Sensorineural hearing impairment	HP:0000407
132	ADK	Hyperbilirubinemia	HP:0002904
132	ADK	Progressive	HP:0003676
132	ADK	Elevated hepatic transaminase	HP:0002910
132	ADK	Atrial septal defect	HP:0001631
132	ADK	Poor speech	HP:0002465
132	ADK	Seizures	HP:0001250
132	ADK	Hypermethioninemia	HP:0003235
132	ADK	Failure to thrive	HP:0001508
132	ADK	Pulmonic stenosis	HP:0001642
132	ADK	Delayed speech and language development	HP:0000750
132	ADK	Global developmental delay	HP:0001263
132	ADK	Cholestasis	HP:0001396
132	ADK	Portal fibrosis	HP:0006580
132	ADK	Hepatic steatosis	HP:0001397
132	ADK	Narrow foot	HP:0001786
132	ADK	Hypertelorism	HP:0000316
57477	SHROOM4	Depressed nasal bridge	HP:0005280
57477	SHROOM4	Absent speech	HP:0001344
57477	SHROOM4	Short stature	HP:0004322
57477	SHROOM4	Seizures	HP:0001250
57477	SHROOM4	Talipes equinovarus	HP:0001762
57477	SHROOM4	Gastroesophageal reflux	HP:0002020
57477	SHROOM4	Strabismus	HP:0000486
57477	SHROOM4	X-linked inheritance	HP:0001417
57477	SHROOM4	Hip dislocation	HP:0002827
57477	SHROOM4	Intellectual disability, profound	HP:0002187
57477	SHROOM4	Short foot	HP:0001773
57477	SHROOM4	Hirsutism	HP:0001007
57477	SHROOM4	Global developmental delay	HP:0001263
57477	SHROOM4	Hyperactivity	HP:0000752
57477	SHROOM4	Bruxism	HP:0003763
57477	SHROOM4	Small hand	HP:0200055
57477	SHROOM4	Kyphosis	HP:0002808
57477	SHROOM4	Scoliosis	HP:0002650
57477	SHROOM4	Hypertelorism	HP:0000316
57477	SHROOM4	Microcephaly	HP:0000252
57477	SHROOM4	Epicanthus	HP:0000286
8328	GFI1B	Prolonged bleeding time	HP:0003010
8328	GFI1B	Ecchymosis	HP:0031364
8328	GFI1B	Epistaxis	HP:0000421
8328	GFI1B	Autosomal dominant inheritance	HP:0000006
8328	GFI1B	Myelofibrosis	HP:0011974
8328	GFI1B	Petechiae	HP:0000967
8328	GFI1B	Autosomal recessive inheritance	HP:0000007
8328	GFI1B	Reduced prothrombin consumption	HP:0003337
8328	GFI1B	Infantile onset	HP:0003593
8328	GFI1B	Abnormality of the menstrual cycle	HP:0000140
8328	GFI1B	Absence of alpha granules	HP:0012526
8328	GFI1B	Myelodysplasia	HP:0002863
8328	GFI1B	Splenomegaly	HP:0001744
8328	GFI1B	Thrombocytopenia	HP:0001873
8328	GFI1B	Bruising susceptibility	HP:0000978
8328	GFI1B	Variable expressivity	HP:0003828
8328	GFI1B	Gastrointestinal hemorrhage	HP:0002239
123016	TTC8	Abnormal electroretinogram	HP:0000512
123016	TTC8	Skeletal muscle atrophy	HP:0003202
123016	TTC8	Abnormal light- and dark-adapted electroretinogram	HP:0008323
123016	TTC8	Multicystic kidney dysplasia	HP:0000003
123016	TTC8	Cataract	HP:0000518
123016	TTC8	Hypogonadism	HP:0000135
123016	TTC8	Autosomal recessive inheritance	HP:0000007
123016	TTC8	Optic atrophy	HP:0000648
123016	TTC8	Postaxial hand polydactyly	HP:0001162
123016	TTC8	Hypoplasia of the ovary	HP:0008724
123016	TTC8	Conductive hearing impairment	HP:0000405
123016	TTC8	Nyctalopia	HP:0000662
123016	TTC8	Sensorineural hearing impairment	HP:0000407
123016	TTC8	Abnormality of retinal pigmentation	HP:0007703
123016	TTC8	Cryptorchidism	HP:0000028
123016	TTC8	Hypoplasia of penis	HP:0008736
123016	TTC8	Situs inversus totalis	HP:0001696
123016	TTC8	Abnormal testis morphology	HP:0000035
123016	TTC8	Attenuation of retinal blood vessels	HP:0007843
123016	TTC8	Prominent nasal bridge	HP:0000426
123016	TTC8	Wide nasal bridge	HP:0000431
123016	TTC8	Hypospadias	HP:0000047
123016	TTC8	Keratoconus	HP:0000563
123016	TTC8	Hypertension	HP:0000822
123016	TTC8	Generalized hirsutism	HP:0002230
123016	TTC8	Bone spicule pigmentation of the retina	HP:0007737
123016	TTC8	Cognitive impairment	HP:0100543
123016	TTC8	Hyperreflexia	HP:0001347
123016	TTC8	Pigmentary retinopathy	HP:0000580
123016	TTC8	Hyperinsulinemia	HP:0000842
123016	TTC8	Polydactyly	HP:0010442
123016	TTC8	Anteverted nares	HP:0000463
123016	TTC8	Pallor	HP:0000980
123016	TTC8	Finger syndactyly	HP:0006101
123016	TTC8	Short neck	HP:0000470
123016	TTC8	Ophthalmoplegia	HP:0000602
123016	TTC8	Type II diabetes mellitus	HP:0005978
123016	TTC8	Atypical scarring of skin	HP:0000987
123016	TTC8	Macular degeneration	HP:0000608
123016	TTC8	Intellectual disability	HP:0001249
123016	TTC8	Short stature	HP:0004322
123016	TTC8	Nephrotic syndrome	HP:0000100
123016	TTC8	Photophobia	HP:0000613
123016	TTC8	Obesity	HP:0001513
123016	TTC8	Blindness	HP:0000618
123016	TTC8	Hearing impairment	HP:0000365
123016	TTC8	Abnormal retinal vascular morphology	HP:0008046
123016	TTC8	Renal dysplasia	HP:0000110
123016	TTC8	Downslanted palpebral fissures	HP:0000494
123016	TTC8	Global developmental delay	HP:0001263
123016	TTC8	Reduced visual acuity	HP:0007663
123016	TTC8	Low-set, posteriorly rotated ears	HP:0000368
123016	TTC8	Hepatic fibrosis	HP:0001395
123016	TTC8	Glaucoma	HP:0000501
123016	TTC8	Neurological speech impairment	HP:0002167
123016	TTC8	Brachycephaly	HP:0000248
123016	TTC8	Progressive night blindness	HP:0007675
123016	TTC8	High myopia	HP:0011003
123016	TTC8	Medial flaring of the eyebrow	HP:0010747
123016	TTC8	Rod-cone dystrophy	HP:0000510
123016	TTC8	Nystagmus	HP:0000639
139411	PTCHD1	Intellectual disability	HP:0001249
57492	ARID1B	Umbilical hernia	HP:0001537
57492	ARID1B	Hemangioma	HP:0001028
57492	ARID1B	Intestinal malrotation	HP:0002566
57492	ARID1B	Autosomal dominant inheritance	HP:0000006
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	Duodenal ulcer	HP:0002588
57492	ARID1B	Cryptorchidism	HP:0000028
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	Short distal phalanx of the 5th toe	HP:0100391
57492	ARID1B	Neonatal hypotonia	HP:0001319
57492	ARID1B	Rocker bottom foot	HP:0001838
57492	ARID1B	Hypospadias	HP:0000047
57492	ARID1B	Partial agenesis of the corpus callosum	HP:0001338
57492	ARID1B	Joint hyperflexibility	HP:0005692
57492	ARID1B	Hypertelorism	HP:0000316
57492	ARID1B	Thick eyebrow	HP:0000574
57492	ARID1B	Short philtrum	HP:0000322
57492	ARID1B	Upslanted palpebral fissure	HP:0000582
57492	ARID1B	Ventriculomegaly	HP:0002119
57492	ARID1B	Plagiocephaly	HP:0001357
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	Scoliosis	HP:0002650
57492	ARID1B	Micrognathia	HP:0000347
57492	ARID1B	Prominent interphalangeal joints	HP:0006237
57492	ARID1B	Ventricular septal defect	HP:0001629
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	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	Camptodactyly of finger	HP:0100490
57492	ARID1B	Aplasia of the uterus	HP:0000151
57492	ARID1B	Sensorineural hearing impairment	HP:0000407
57492	ARID1B	Wide mouth	HP:0000154
57492	ARID1B	Short distal phalanx of finger	HP:0009882
57492	ARID1B	Recurrent respiratory infections	HP:0002205
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	Single transverse palmar crease	HP:0000954
57492	ARID1B	Delayed skeletal maturation	HP:0002750
57492	ARID1B	Sacral dimple	HP:0000960
57492	ARID1B	Aplasia/Hypoplasia of the cerebellum	HP:0007360
57492	ARID1B	Postnatal growth retardation	HP:0008897
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	Depressed nasal ridge	HP:0000457
57492	ARID1B	Hypoplastic fifth fingernail	HP:0008398
57492	ARID1B	Aggressive behavior	HP:0000718
57492	ARID1B	Severe expressive language delay	HP:0006863
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	Intellectual disability	HP:0001249
57492	ARID1B	Spina bifida occulta	HP:0003298
57492	ARID1B	Short stature	HP:0004322
57492	ARID1B	Seizures	HP:0001250
57492	ARID1B	Elbow dislocation	HP:0003042
57492	ARID1B	Astigmatism	HP:0000483
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	Downslanted palpebral fissures	HP:0000494
57492	ARID1B	Global developmental delay	HP:0001263
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	Agenesis of corpus callosum	HP:0001274
57492	ARID1B	Microcephaly	HP:0000252
57492	ARID1B	Ptosis	HP:0000508
151	ADRA2B	Giant somatosensory evoked potentials	HP:0001312
151	ADRA2B	Nonprogressive	HP:0003680
151	ADRA2B	Intellectual disability	HP:0001249
151	ADRA2B	Amaurosis fugax	HP:0100576
151	ADRA2B	Blepharospasm	HP:0000643
151	ADRA2B	EEG with photoparoxysmal response	HP:0010852
151	ADRA2B	Autosomal dominant inheritance	HP:0000006
151	ADRA2B	Jerk-locked premyoclonus spikes	HP:0001351
151	ADRA2B	Hand tremor	HP:0002378
151	ADRA2B	Headache	HP:0002315
151	ADRA2B	EEG with irregular generalized spike and wave complexes	HP:0001326
151	ADRA2B	EEG abnormality	HP:0002353
151	ADRA2B	Generalized-onset seizure	HP:0002197
151	ADRA2B	Generalized tonic-clonic seizures	HP:0002069
151	ADRA2B	Myoclonus	HP:0001336
151	ADRA2B	Tremor	HP:0001337
151	ADRA2B	Enhancement of the C-reflex	HP:0001340
151	ADRA2B	Adult onset	HP:0003581
151	ADRA2B	Cognitive impairment	HP:0100543
151	ADRA2B	Focal-onset seizure	HP:0007359
57498	KIDINS220	Hyperreflexia	HP:0001347
57498	KIDINS220	Autosomal dominant inheritance	HP:0000006
57498	KIDINS220	Ventriculomegaly	HP:0002119
57498	KIDINS220	Abnormal CNS myelination	HP:0011400
57498	KIDINS220	Infantile onset	HP:0003593
57498	KIDINS220	Cerebral atrophy	HP:0002059
57498	KIDINS220	Limb hypertonia	HP:0002509
57498	KIDINS220	Plagiocephaly	HP:0001357
57498	KIDINS220	Delayed gross motor development	HP:0002194
57498	KIDINS220	Prominent forehead	HP:0011220
57498	KIDINS220	Polyhydramnios	HP:0001561
57498	KIDINS220	Hypermetropia	HP:0000540
57498	KIDINS220	Hypoplasia of the corpus callosum	HP:0002079
57498	KIDINS220	Delayed myelination	HP:0012448
57498	KIDINS220	Esophoria	HP:0025312
57498	KIDINS220	Intellectual disability	HP:0001249
57498	KIDINS220	Astigmatism	HP:0000483
57498	KIDINS220	Full cheeks	HP:0000293
57498	KIDINS220	Muscular hypotonia of the trunk	HP:0008936
57498	KIDINS220	Obesity	HP:0001513
57498	KIDINS220	Deeply set eye	HP:0000490
57498	KIDINS220	Spastic paraplegia	HP:0001258
57498	KIDINS220	Dilation of lateral ventricles	HP:0006956
57498	KIDINS220	Progressive spastic paraplegia	HP:0007020
57498	KIDINS220	Delayed speech and language development	HP:0000750
57498	KIDINS220	Global developmental delay	HP:0001263
57498	KIDINS220	Reduced visual acuity	HP:0007663
57498	KIDINS220	Esotropia	HP:0000565
57498	KIDINS220	Partial agenesis of the corpus callosum	HP:0001338
57498	KIDINS220	Nystagmus	HP:0000639
90268	OTULIN	Failure to thrive	HP:0001508
90268	OTULIN	Lipodystrophy	HP:0009125
90268	OTULIN	Leukocytosis	HP:0001974
90268	OTULIN	Autosomal recessive inheritance	HP:0000007
90268	OTULIN	Vasculitis	HP:0002633
90268	OTULIN	Neutrophilia	HP:0011897
90268	OTULIN	Joint swelling	HP:0001386
90268	OTULIN	Panniculitis	HP:0012490
90268	OTULIN	Lymphadenopathy	HP:0002716
90268	OTULIN	Arthralgia	HP:0002829
90268	OTULIN	Myalgia	HP:0003326
90268	OTULIN	Diarrhea	HP:0002014
729238	SFTPA2	Clubbing	HP:0001217
729238	SFTPA2	Gastroesophageal reflux	HP:0002020
729238	SFTPA2	Autosomal dominant inheritance	HP:0000006
729238	SFTPA2	Pneumonia	HP:0002090
729238	SFTPA2	Pulmonary arterial hypertension	HP:0002092
729238	SFTPA2	Pulmonary insufficiency	HP:0010444
729238	SFTPA2	Increased antibody level in blood	HP:0010702
729238	SFTPA2	Crackles	HP:0030830
729238	SFTPA2	Reticular pattern on pulmonary HRCT	HP:0025390
729238	SFTPA2	Cirrhosis	HP:0001394
729238	SFTPA2	Clubbing of fingers	HP:0100759
729238	SFTPA2	Alveolar cell carcinoma	HP:0006519
729238	SFTPA2	Honeycomb lung	HP:0025175
729238	SFTPA2	Exertional dyspnea	HP:0002875
729238	SFTPA2	Ground-glass opacification on pulmonary HRCT	HP:0025179
729238	SFTPA2	Pulmonary fibrosis	HP:0002206
729238	SFTPA2	Bronchiectasis	HP:0002110
729238	SFTPA2	Cough	HP:0012735
57502	NLGN4X	Intellectual disability	HP:0001249
57502	NLGN4X	Sporadic	HP:0003745
57502	NLGN4X	Seizures	HP:0001250
57502	NLGN4X	Childhood onset	HP:0011463
57502	NLGN4X	Increased serum serotonin	HP:0003144
57502	NLGN4X	X-linked inheritance	HP:0001417
57502	NLGN4X	Autism	HP:0000717
57502	NLGN4X	Delayed speech and language development	HP:0000750
57502	NLGN4X	Lack of spontaneous play	HP:0000721
57502	NLGN4X	Heterogeneous	HP:0001425
57502	NLGN4X	EEG abnormality	HP:0002353
57502	NLGN4X	Multifactorial inheritance	HP:0001426
57502	NLGN4X	Restrictive behavior	HP:0000723
57502	NLGN4X	Impaired use of nonverbal behaviors	HP:0000758
57502	NLGN4X	Lack of peer relationships	HP:0002332
57502	NLGN4X	Inflexible adherence to routines or rituals	HP:0000732
57502	NLGN4X	Stereotypy	HP:0000733
158	ADSL	Absent speech	HP:0001344
158	ADSL	Skeletal muscle atrophy	HP:0003202
158	ADSL	Opisthotonus	HP:0002179
158	ADSL	Brisk reflexes	HP:0001348
158	ADSL	Autosomal recessive inheritance	HP:0000007
158	ADSL	Infantile onset	HP:0003593
158	ADSL	Generalized hypotonia	HP:0001290
158	ADSL	Cerebral atrophy	HP:0002059
158	ADSL	Autism	HP:0000717
158	ADSL	Aggressive behavior	HP:0000718
158	ADSL	Anteverted nares	HP:0000463
158	ADSL	Abnormal facial shape	HP:0001999
158	ADSL	Severe global developmental delay	HP:0011344
158	ADSL	Gait ataxia	HP:0002066
158	ADSL	Happy demeanor	HP:0040082
158	ADSL	Long philtrum	HP:0000343
158	ADSL	Cerebral hypomyelination	HP:0006808
158	ADSL	Wide mouth	HP:0000154
158	ADSL	Thin upper lip vermilion	HP:0000219
158	ADSL	Flat occiput	HP:0005469
158	ADSL	Intellectual disability	HP:0001249
158	ADSL	Seizures	HP:0001250
158	ADSL	CNS hypomyelination	HP:0003429
158	ADSL	Self-mutilation	HP:0000742
158	ADSL	Growth delay	HP:0001510
158	ADSL	Strabismus	HP:0000486
158	ADSL	Inability to walk	HP:0002540
158	ADSL	Inappropriate laughter	HP:0000748
158	ADSL	Delayed speech and language development	HP:0000750
158	ADSL	Prominent metopic ridge	HP:0005487
158	ADSL	Global developmental delay	HP:0001263
158	ADSL	Hyperactivity	HP:0000752
158	ADSL	Low-set ears	HP:0000369
158	ADSL	Poor eye contact	HP:0000817
158	ADSL	Myoclonus	HP:0001336
158	ADSL	Brachycephaly	HP:0000248
158	ADSL	Cerebellar atrophy	HP:0001272
158	ADSL	Short nose	HP:0003196
158	ADSL	Microcephaly	HP:0000252
158	ADSL	Nystagmus	HP:0000639
158	ADSL	Smooth philtrum	HP:0000319
158	ADSL	Hypointensity of cerebral white matter on MRI	HP:0007103
123041	SLC24A4	Amelogenesis imperfecta	HP:0000705
123041	SLC24A4	Autosomal recessive inheritance	HP:0000007
123041	SLC24A4	Carious teeth	HP:0000670
57505	AARS2	Loss of speech	HP:0002371
57505	AARS2	Neurodegeneration	HP:0002180
57505	AARS2	Progressive leukoencephalopathy	HP:0006980
57505	AARS2	Autosomal recessive inheritance	HP:0000007
57505	AARS2	Apraxia	HP:0002186
57505	AARS2	Depressivity	HP:0000716
57505	AARS2	Premature ovarian insufficiency	HP:0008209
57505	AARS2	Dementia	HP:0000726
57505	AARS2	Progressive	HP:0003676
57505	AARS2	Ataxia	HP:0001251
57505	AARS2	Failure to thrive	HP:0001508
57505	AARS2	Increased serum lactate	HP:0002151
57505	AARS2	Hypertrophic cardiomyopathy	HP:0001639
57505	AARS2	Spasticity	HP:0001257
57505	AARS2	Pulmonary hypoplasia	HP:0002089
57505	AARS2	Dysarthria	HP:0001260
57505	AARS2	EEG abnormality	HP:0002353
57505	AARS2	Death in infancy	HP:0001522
57505	AARS2	Dystonia	HP:0001332
57505	AARS2	Cerebellar atrophy	HP:0001272
57505	AARS2	Lactic acidosis	HP:0003128
57505	AARS2	Tremor	HP:0001337
57505	AARS2	Periventricular leukomalacia	HP:0006970
57505	AARS2	Generalized muscle weakness	HP:0003324
57505	AARS2	Nystagmus	HP:0000639
286887	KRT6C	Epidermal acanthosis	HP:0025092
286887	KRT6C	Palmoplantar keratoderma	HP:0000982
286887	KRT6C	Autosomal dominant inheritance	HP:0000006
165	AEBP1	Pes planus	HP:0001763
165	AEBP1	Osteoarthritis	HP:0002758
165	AEBP1	Squared iliac bones	HP:0003177
165	AEBP1	Osteoporosis	HP:0000939
165	AEBP1	Hip dislocation	HP:0002827
165	AEBP1	Redundant skin	HP:0001582
165	AEBP1	Hyperextensible skin	HP:0000974
165	AEBP1	Bursitis	HP:0025232
165	AEBP1	Knee dislocation	HP:0004976
165	AEBP1	Bilateral ptosis	HP:0001488
165	AEBP1	Webbed neck	HP:0000465
165	AEBP1	Bruising susceptibility	HP:0000978
165	AEBP1	Thin eyebrow	HP:0045074
165	AEBP1	Atrophic scars	HP:0001075
165	AEBP1	Ventral hernia	HP:0002933
165	AEBP1	Short neck	HP:0000470
165	AEBP1	Inguinal hernia	HP:0000023
165	AEBP1	Shoulder dislocation	HP:0003834
165	AEBP1	Micrognathia	HP:0000347
165	AEBP1	Hallux valgus	HP:0001822
165	AEBP1	Thoracic scoliosis	HP:0002943
57511	COG6	Hepatomegaly	HP:0002240
57511	COG6	Hyperkeratosis	HP:0000962
57511	COG6	Micronodular cirrhosis	HP:0001413
57511	COG6	Hypohidrosis	HP:0000966
57511	COG6	Autosomal recessive inheritance	HP:0000007
57511	COG6	Ventriculomegaly	HP:0002119
57511	COG6	Cerebral atrophy	HP:0002059
57511	COG6	Palmoplantar hyperkeratosis	HP:0000972
57511	COG6	Type II transferrin isoform profile	HP:0012301
57511	COG6	Thrombocytopenia	HP:0001873
57511	COG6	Loss of consciousness	HP:0007185
57511	COG6	Pancytopenia	HP:0001876
57511	COG6	Retrognathia	HP:0000278
57511	COG6	Hyperbilirubinemia	HP:0002904
57511	COG6	Decreased antibody level in blood	HP:0004313
57511	COG6	Hypoplasia of dental enamel	HP:0006297
57511	COG6	Elevated hepatic transaminase	HP:0002910
57511	COG6	Epicanthus	HP:0000286
57511	COG6	Carious teeth	HP:0000670
57511	COG6	Recurrent infections	HP:0002719
57511	COG6	Intellectual disability	HP:0001249
57511	COG6	Immunodeficiency	HP:0002721
57511	COG6	Seizures	HP:0001250
57511	COG6	Postaxial polydactyly	HP:0100259
57511	COG6	Failure to thrive	HP:0001508
57511	COG6	Abnormal bleeding	HP:0001892
57511	COG6	Intrauterine growth retardation	HP:0001511
57511	COG6	Muscular hypotonia of the trunk	HP:0008936
57511	COG6	Chronic diarrhea	HP:0002028
57511	COG6	Delayed speech and language development	HP:0000750
57511	COG6	Anemia	HP:0001903
57511	COG6	Global developmental delay	HP:0001263
57511	COG6	Death in infancy	HP:0001522
57511	COG6	Proximal tubulopathy	HP:0000114
57511	COG6	Cholestasis	HP:0001396
57511	COG6	Inflammation of the large intestine	HP:0002037
57511	COG6	Congenital onset	HP:0003577
57511	COG6	Macrovesicular hepatic steatosis	HP:0001403
57511	COG6	Impaired T cell function	HP:0005435
57511	COG6	Microcephaly	HP:0000252
57514	ARHGAP31	Small nail	HP:0001792
57514	ARHGAP31	Aplastic/hypoplastic toenail	HP:0010624
57514	ARHGAP31	Portal hypertension	HP:0001409
57514	ARHGAP31	Brachydactyly	HP:0001156
57514	ARHGAP31	Ascites	HP:0001541
57514	ARHGAP31	Autosomal dominant inheritance	HP:0000006
57514	ARHGAP31	Cataract	HP:0000518
57514	ARHGAP31	Sparse hair	HP:0008070
57514	ARHGAP31	Absent toe	HP:0010760
57514	ARHGAP31	Generalized hypotonia	HP:0001290
57514	ARHGAP31	Abnormality of the metacarpal bones	HP:0001163
57514	ARHGAP31	Hypoplastic fingernail	HP:0001804
57514	ARHGAP31	Split hand	HP:0001171
57514	ARHGAP31	Pachygyria	HP:0001302
57514	ARHGAP31	Absent fingernail	HP:0001817
57514	ARHGAP31	Short distal phalanx of finger	HP:0009882
57514	ARHGAP31	Hypoplasia of the corpus callosum	HP:0002079
57514	ARHGAP31	Hypoplastic left heart	HP:0004383
57514	ARHGAP31	Aplasia cutis congenita	HP:0001057
57514	ARHGAP31	Encephalocele	HP:0002084
57514	ARHGAP31	Aplasia cutis congenita on trunk or limbs	HP:0007589
57514	ARHGAP31	Aplasia cutis congenita over posterior parietal area	HP:0007590
57514	ARHGAP31	Pulmonary arterial hypertension	HP:0002092
57514	ARHGAP31	Cleft palate	HP:0000175
57514	ARHGAP31	EEG abnormality	HP:0002353
57514	ARHGAP31	Congenital hepatic fibrosis	HP:0002612
57514	ARHGAP31	Esotropia	HP:0000565
57514	ARHGAP31	Hypertension	HP:0000822
57514	ARHGAP31	Microphthalmia	HP:0000568
57514	ARHGAP31	Periventricular leukomalacia	HP:0006970
57514	ARHGAP31	Imperforate hymen	HP:0030011
57514	ARHGAP31	Arteriovenous malformation	HP:0100026
57514	ARHGAP31	Alopecia	HP:0001596
57514	ARHGAP31	Pulmonary artery stenosis	HP:0004415
57514	ARHGAP31	Gastrointestinal hemorrhage	HP:0002239
57514	ARHGAP31	Cutis marmorata	HP:0000965
57514	ARHGAP31	Ventriculomegaly	HP:0002119
57514	ARHGAP31	Pulmonary artery atresia	HP:0004935
57514	ARHGAP31	Cleft upper lip	HP:0000204
57514	ARHGAP31	Polymicrogyria	HP:0002126
57514	ARHGAP31	Thrombocytopenia	HP:0001873
57514	ARHGAP31	Calvarial skull defect	HP:0001362
57514	ARHGAP31	Absent hand	HP:0004050
57514	ARHGAP31	Porencephalic cyst	HP:0002132
57514	ARHGAP31	Finger syndactyly	HP:0006101
57514	ARHGAP31	Premature birth	HP:0001622
57514	ARHGAP31	Leukopenia	HP:0001882
57514	ARHGAP31	Talipes	HP:0001883
57514	ARHGAP31	Ventricular septal defect	HP:0001629
57514	ARHGAP31	Atrial septal defect	HP:0001631
57514	ARHGAP31	Intellectual disability	HP:0001249
57514	ARHGAP31	Seizures	HP:0001250
57514	ARHGAP31	Talipes equinovarus	HP:0001762
57514	ARHGAP31	Tetralogy of Fallot	HP:0001636
57514	ARHGAP31	Muscular hypotonia	HP:0001252
57514	ARHGAP31	Failure to thrive	HP:0001508
57514	ARHGAP31	Strabismus	HP:0000486
57514	ARHGAP31	Abnormal pulmonary valve morphology	HP:0001641
57514	ARHGAP31	Toe syndactyly	HP:0001770
57514	ARHGAP31	Pulmonic stenosis	HP:0001642
57514	ARHGAP31	Cortical dysplasia	HP:0002539
57514	ARHGAP31	Hydrocephalus	HP:0000238
57514	ARHGAP31	Bicuspid aortic valve	HP:0001647
57514	ARHGAP31	Global developmental delay	HP:0001263
57514	ARHGAP31	Aortic valve stenosis	HP:0001650
57514	ARHGAP31	Cirrhosis	HP:0001394
57514	ARHGAP31	Hemiparesis	HP:0001269
57514	ARHGAP31	Esophageal varix	HP:0002040
57514	ARHGAP31	Microcephaly	HP:0000252
57514	ARHGAP31	Hypertonia	HP:0001276
57514	ARHGAP31	Supernumerary nipple	HP:0002558
174	AFP	Decreased levels of alpha-fetoprotein	HP:0045057
174	AFP	Autosomal recessive inheritance	HP:0000007
175	AGA	Pectus carinatum	HP:0000768
175	AGA	Umbilical hernia	HP:0001537
175	AGA	Vacuolated lymphocytes	HP:0001922
175	AGA	Chronic otitis media	HP:0000389
175	AGA	Cataract	HP:0000518
175	AGA	Autosomal recessive inheritance	HP:0000007
175	AGA	Generalized hypotonia	HP:0001290
175	AGA	Cerebral atrophy	HP:0002059
175	AGA	Vascular skin abnormality	HP:0011276
175	AGA	Abnormality of metabolism/homeostasis	HP:0001939
175	AGA	Inguinal hernia	HP:0000023
175	AGA	Coarse facial features	HP:0000280
175	AGA	Wide mouth	HP:0000154
175	AGA	Broad face	HP:0000283
175	AGA	Recurrent respiratory infections	HP:0002205
175	AGA	Macroglossia	HP:0000158
175	AGA	Platyspondyly	HP:0000926
175	AGA	Carious teeth	HP:0000670
175	AGA	Abnormal cortical bone morphology	HP:0003103
175	AGA	Depressed nasal bridge	HP:0005280
175	AGA	Aspartylglucosaminuria	HP:0012068
175	AGA	Acne	HP:0001061
175	AGA	Dysostosis multiplex	HP:0000943
175	AGA	Angiokeratoma corporis diffusum	HP:0001071
175	AGA	Mandibular prognathia	HP:0000303
175	AGA	Wide nasal bridge	HP:0000431
175	AGA	Hypoplastic frontal sinuses	HP:0002738
175	AGA	Thick lower lip vermilion	HP:0000179
175	AGA	Macroorchidism	HP:0000053
175	AGA	Dyskinesia	HP:0100660
175	AGA	Abnormality of the ulna	HP:0002997
175	AGA	Hernia	HP:0100790
175	AGA	Thick vermilion border	HP:0012471
175	AGA	Sleep disturbance	HP:0002360
175	AGA	Hypertelorism	HP:0000316
175	AGA	Delayed skeletal maturation	HP:0002750
175	AGA	Hepatomegaly	HP:0002240
175	AGA	Pathologic fracture	HP:0002756
175	AGA	Decreased prothrombin time	HP:0032198
175	AGA	Developmental regression	HP:0002376
175	AGA	Hoarse voice	HP:0001609
175	AGA	Anteverted nares	HP:0000463
175	AGA	Splenomegaly	HP:0001744
175	AGA	Neutropenia	HP:0001875
175	AGA	Gingival overgrowth	HP:0000212
175	AGA	Beaking of vertebral bodies	HP:0004568
175	AGA	Arthritis	HP:0001369
175	AGA	Scoliosis	HP:0002650
175	AGA	Diarrhea	HP:0002014
175	AGA	Intellectual disability	HP:0001249
175	AGA	Short stature	HP:0004322
175	AGA	Seizures	HP:0001250
175	AGA	Pes planus	HP:0001763
175	AGA	Muscular hypotonia	HP:0001252
175	AGA	Spondylolisthesis	HP:0003302
175	AGA	Microtia	HP:0008551
175	AGA	Spondylolysis	HP:0003304
175	AGA	Malabsorption	HP:0002024
175	AGA	Spasticity	HP:0001257
175	AGA	Joint stiffness	HP:0001387
175	AGA	Joint laxity	HP:0001388
175	AGA	Delayed speech and language development	HP:0000750
175	AGA	Anterior beaking of lumbar vertebrae	HP:0008430
175	AGA	Abnormality of amino acid metabolism	HP:0004337
175	AGA	Mitral regurgitation	HP:0001653
175	AGA	Neurological speech impairment	HP:0002167
175	AGA	Kyphosis	HP:0002808
175	AGA	Brachycephaly	HP:0000248
175	AGA	Large face	HP:0100729
175	AGA	Thickened calvaria	HP:0002684
175	AGA	Microcephaly	HP:0000252
175	AGA	Short nose	HP:0003196
176	ACAN	Relative macrocephaly	HP:0004482
176	ACAN	Short thorax	HP:0010306
176	ACAN	Brachydactyly	HP:0001156
176	ACAN	Osteoarthritis	HP:0002758
176	ACAN	Osteochondritis Dissecans	HP:0010886
176	ACAN	Autosomal dominant inheritance	HP:0000006
176	ACAN	Autosomal recessive inheritance	HP:0000007
176	ACAN	Metaphyseal widening	HP:0003016
176	ACAN	Hoarse voice	HP:0001609
176	ACAN	Rhizomelia	HP:0008905
176	ACAN	Barrel-shaped chest	HP:0001552
176	ACAN	Malar flattening	HP:0000272
176	ACAN	Waddling gait	HP:0002515
176	ACAN	Mesomelia	HP:0003027
176	ACAN	Short neck	HP:0000470
176	ACAN	Irregular epiphyses	HP:0010582
176	ACAN	Frontal bossing	HP:0002007
176	ACAN	Midface retrusion	HP:0011800
176	ACAN	Genu varum	HP:0002970
176	ACAN	Spondyloepimetaphyseal dysplasia	HP:0002651
176	ACAN	Platyspondyly	HP:0000926
176	ACAN	Spondyloepiphyseal dysplasia	HP:0002655
176	ACAN	Short stature	HP:0004322
176	ACAN	Growth abnormality	HP:0001507
176	ACAN	Absent nasal bridge	HP:0005285
176	ACAN	Short finger	HP:0009381
176	ACAN	Posteriorly rotated ears	HP:0000358
176	ACAN	Micromelia	HP:0002983
176	ACAN	Exostoses	HP:0100777
176	ACAN	Broad thumb	HP:0011304
176	ACAN	Genu valgum	HP:0002857
176	ACAN	Flat capital femoral epiphysis	HP:0003370
176	ACAN	Abnormality of epiphysis morphology	HP:0005930
176	ACAN	Functional respiratory abnormality	HP:0002795
176	ACAN	Joint laxity	HP:0001388
176	ACAN	Mandibular prognathia	HP:0000303
176	ACAN	Accelerated skeletal maturation	HP:0005616
176	ACAN	Low-set, posteriorly rotated ears	HP:0000368
176	ACAN	Developmental stagnation	HP:0007281
176	ACAN	Low-set ears	HP:0000369
176	ACAN	Short thumb	HP:0009778
176	ACAN	Proportionate short stature	HP:0003508
176	ACAN	Lumbar hyperlordosis	HP:0002938
176	ACAN	Abnormality of the nail	HP:0001597
176	ACAN	Delayed skeletal maturation	HP:0002750
57520	HECW2	Delayed ability to walk	HP:0031936
57520	HECW2	Autosomal dominant inheritance	HP:0000006
57520	HECW2	Ventriculomegaly	HP:0002119
57520	HECW2	Generalized hypotonia	HP:0001290
57520	HECW2	Cerebral atrophy	HP:0002059
57520	HECW2	Abnormal facial shape	HP:0001999
57520	HECW2	Anteverted nares	HP:0000463
57520	HECW2	Macrotia	HP:0000400
57520	HECW2	High, narrow palate	HP:0002705
57520	HECW2	Sparse eyebrow	HP:0045075
57520	HECW2	Prominent forehead	HP:0011220
57520	HECW2	Midface retrusion	HP:0011800
57520	HECW2	Autistic behavior	HP:0000729
57520	HECW2	Wide mouth	HP:0000154
57520	HECW2	Bulbous nose	HP:0000414
57520	HECW2	Epicanthus	HP:0000286
57520	HECW2	Depressed nasal bridge	HP:0005280
57520	HECW2	Nasogastric tube feeding	HP:0040288
57520	HECW2	Cerebral visual impairment	HP:0100704
57520	HECW2	Intellectual disability	HP:0001249
57520	HECW2	Seizures	HP:0001250
57520	HECW2	Strabismus	HP:0000486
57520	HECW2	Osteopenia	HP:0000938
57520	HECW2	Deeply set eye	HP:0000490
57520	HECW2	Self-injurious behavior	HP:0100716
57520	HECW2	Global developmental delay	HP:0001263
57520	HECW2	EEG abnormality	HP:0002353
57520	HECW2	Thick lower lip vermilion	HP:0000179
57520	HECW2	Recurrent hand flapping	HP:0100023
57520	HECW2	Telecanthus	HP:0000506
57520	HECW2	Ptosis	HP:0000508
57520	HECW2	Thick eyebrow	HP:0000574
57520	HECW2	Nystagmus	HP:0000639
178	AGL	Hepatomegaly	HP:0002240
178	AGL	Depressed nasal bridge	HP:0005280
178	AGL	Immunodeficiency	HP:0002721
178	AGL	Short stature	HP:0004322
178	AGL	Elevated serum creatine kinase	HP:0003236
178	AGL	Hyperlipidemia	HP:0003077
178	AGL	Full cheeks	HP:0000293
178	AGL	Cardiomyopathy	HP:0001638
178	AGL	Broad nasal tip	HP:0000455
178	AGL	Autosomal recessive inheritance	HP:0000007
178	AGL	Intellectual disability, mild	HP:0001256
178	AGL	Thin vermilion border	HP:0000233
178	AGL	Deeply set eye	HP:0000490
178	AGL	Hypertriglyceridemia	HP:0002155
178	AGL	Muscle weakness	HP:0001324
178	AGL	Distal amyotrophy	HP:0003693
178	AGL	Malar flattening	HP:0000272
178	AGL	Ventricular hypertrophy	HP:0001714
178	AGL	Hepatic fibrosis	HP:0001395
178	AGL	Hypoglycemia	HP:0001943
178	AGL	Midface retrusion	HP:0011800
178	AGL	Thin upper lip vermilion	HP:0000219
178	AGL	Myopathy	HP:0003198
178	AGL	Elevated hepatic transaminase	HP:0002910
182	JAG1	Renal artery stenosis	HP:0001920
182	JAG1	Brachydactyly	HP:0001156
182	JAG1	Areflexia	HP:0001284
182	JAG1	Abnormality of the ribs	HP:0000772
182	JAG1	Autosomal dominant inheritance	HP:0000006
182	JAG1	Cataract	HP:0000518
182	JAG1	Proptosis	HP:0000520
182	JAG1	Infantile onset	HP:0003593
182	JAG1	Butterfly vertebral arch	HP:0004617
182	JAG1	Dolichocephaly	HP:0000268
182	JAG1	Macrotia	HP:0000400
182	JAG1	Coarctation of aorta	HP:0001680
182	JAG1	Stroke	HP:0001297
182	JAG1	Chorioretinal atrophy	HP:0000533
182	JAG1	Short distal phalanx of finger	HP:0009882
182	JAG1	Renal tubular acidosis	HP:0001947
182	JAG1	Cryptorchidism	HP:0000028
182	JAG1	Depressed nasal bridge	HP:0005280
182	JAG1	Myopia	HP:0000545
182	JAG1	Underdeveloped supraorbital ridges	HP:0009891
182	JAG1	Reduced number of intrahepatic bile ducts	HP:0006571
182	JAG1	Specific learning disability	HP:0001328
182	JAG1	Prolonged neonatal jaundice	HP:0006579
182	JAG1	Hypercholesterolemia	HP:0003124
182	JAG1	Hypertelorism	HP:0000316
182	JAG1	Stage 5 chronic kidney disease	HP:0003774
182	JAG1	Pigmentary retinopathy	HP:0000580
182	JAG1	Triangular face	HP:0000325
182	JAG1	Upslanted palpebral fissure	HP:0000582
182	JAG1	Band keratopathy	HP:0000585
182	JAG1	Exocrine pancreatic insufficiency	HP:0001738
182	JAG1	Vesicoureteral reflux	HP:0000076
182	JAG1	Hypoplasia of the ulna	HP:0003022
182	JAG1	Papillary thyroid carcinoma	HP:0002895
182	JAG1	Broad forehead	HP:0000337
182	JAG1	Duplicated collecting system	HP:0000081
182	JAG1	Abnormal anterior chamber morphology	HP:0000593
182	JAG1	Multiple small medullary renal cysts	HP:0008659
182	JAG1	Axenfeld anomaly	HP:0001492
182	JAG1	Renal hypoplasia	HP:0000089
182	JAG1	Ventricular septal defect	HP:0001629
182	JAG1	Elevated hepatic transaminase	HP:0002910
182	JAG1	Atrial septal defect	HP:0001631
182	JAG1	Focal segmental glomerulosclerosis	HP:0000097
182	JAG1	Microcornea	HP:0000482
182	JAG1	Tetralogy of Fallot	HP:0001636
182	JAG1	Failure to thrive	HP:0001508
182	JAG1	Strabismus	HP:0000486
182	JAG1	Intrauterine growth retardation	HP:0001511
182	JAG1	Intellectual disability, mild	HP:0001256
182	JAG1	Thin vermilion border	HP:0000233
182	JAG1	Peripheral pulmonary artery stenosis	HP:0004969
182	JAG1	Deeply set eye	HP:0000490
182	JAG1	Hypertriglyceridemia	HP:0002155
182	JAG1	Renal dysplasia	HP:0000110
182	JAG1	Abnormal nasal morphology	HP:0005105
182	JAG1	Clinodactyly of the 5th finger	HP:0004209
182	JAG1	Cirrhosis	HP:0001394
182	JAG1	Preauricular pit	HP:0004467
182	JAG1	Posterior embryotoxon	HP:0000627
182	JAG1	Cholestasis	HP:0001396
182	JAG1	Incomplete penetrance	HP:0003829
182	JAG1	Long nose	HP:0003189
182	JAG1	Hepatic failure	HP:0001399
182	JAG1	Hemivertebrae	HP:0002937
182	JAG1	Hepatocellular carcinoma	HP:0001402
57526	PCDH19	Atonic seizures	HP:0010819
57526	PCDH19	Psychosis	HP:0000709
57526	PCDH19	Febrile seizures	HP:0002373
57526	PCDH19	Developmental regression	HP:0002376
57526	PCDH19	Infantile onset	HP:0003593
57526	PCDH19	X-linked inheritance	HP:0001417
57526	PCDH19	Absence seizure	HP:0002121
57526	PCDH19	Generalized myoclonic seizures	HP:0002123
57526	PCDH19	Psychomotor retardation	HP:0025356
57526	PCDH19	Aggressive behavior	HP:0000718
57526	PCDH19	Obtundation status	HP:0011151
57526	PCDH19	Focal impaired awareness seizure	HP:0002384
57526	PCDH19	Generalized tonic-clonic seizures	HP:0002069
57526	PCDH19	Status epilepticus	HP:0002133
57526	PCDH19	Neurodevelopmental delay	HP:0012758
57526	PCDH19	Focal clonic seizures	HP:0002266
57526	PCDH19	Cutaneous photosensitivity	HP:0000992
57526	PCDH19	Intellectual disability	HP:0001249
57526	PCDH19	Ataxia	HP:0001251
57526	PCDH19	Muscular hypotonia	HP:0001252
57526	PCDH19	Generalized tonic-clonic seizures with focal onset	HP:0007334
57526	PCDH19	Global developmental delay	HP:0001263
57526	PCDH19	EEG abnormality	HP:0002353
57526	PCDH19	Tremor	HP:0001337
57526	PCDH19	Focal-onset seizure	HP:0007359
183	AGT	Renotubular dysgenesis	HP:0008660
183	AGT	Anuria	HP:0100519
183	AGT	Autosomal recessive inheritance	HP:0000007
183	AGT	Hypotension	HP:0002615
183	AGT	Pulmonary hypoplasia	HP:0002089
183	AGT	Potter facies	HP:0002009
183	AGT	Oligohydramnios	HP:0001562
183	AGT	Microcephaly	HP:0000252
183	AGT	Widely patent fontanelles and sutures	HP:0004492
183	AGT	Respiratory insufficiency	HP:0002093
183	AGT	Abnormality of the urinary system	HP:0000079
185	AGTR1	Renotubular dysgenesis	HP:0008660
185	AGTR1	Anuria	HP:0100519
185	AGTR1	Autosomal recessive inheritance	HP:0000007
185	AGTR1	Hypotension	HP:0002615
185	AGTR1	Pulmonary hypoplasia	HP:0002089
185	AGTR1	Potter facies	HP:0002009
185	AGTR1	Oligohydramnios	HP:0001562
185	AGTR1	Microcephaly	HP:0000252
185	AGTR1	Widely patent fontanelles and sutures	HP:0004492
185	AGTR1	Respiratory insufficiency	HP:0002093
185	AGTR1	Abnormality of the urinary system	HP:0000079
186	AGTR2	Intellectual disability	HP:0001249
8379	MAD1L1	Somatic mutation	HP:0001428
8379	MAD1L1	Autosomal dominant inheritance	HP:0000006
8379	MAD1L1	Prostate cancer	HP:0012125
57531	HACE1	Autosomal recessive inheritance	HP:0000007
57531	HACE1	Delayed peripheral myelination	HP:0011401
57531	HACE1	Generalized hypotonia	HP:0001290
57531	HACE1	Hip dislocation	HP:0002827
57531	HACE1	Cerebral atrophy	HP:0002059
57531	HACE1	Unsteady gait	HP:0002317
57531	HACE1	Lower limb spasticity	HP:0002061
57531	HACE1	Urinary incontinence	HP:0000020
57531	HACE1	Generalized tonic-clonic seizures	HP:0002069
57531	HACE1	Sensorineural hearing impairment	HP:0000407
57531	HACE1	Neoplasm of the nervous system	HP:0004375
57531	HACE1	Downturned corners of mouth	HP:0002714
57531	HACE1	Focal myoclonic seizures	HP:0011166
57531	HACE1	Hypoplasia of the corpus callosum	HP:0002079
57531	HACE1	Delayed myelination	HP:0012448
57531	HACE1	Myopia	HP:0000545
57531	HACE1	Retinal dystrophy	HP:0000556
57531	HACE1	Difficulty walking	HP:0002355
57531	HACE1	Dystonia	HP:0001332
57531	HACE1	Puberty and gonadal disorders	HP:0008373
57531	HACE1	Hypertelorism	HP:0000316
57531	HACE1	Developmental regression	HP:0002376
57531	HACE1	Elevated urinary catecholamines	HP:0011976
57531	HACE1	Generalized myoclonic seizures	HP:0002123
57531	HACE1	Waddling gait	HP:0002515
57531	HACE1	Broad-based gait	HP:0002136
57531	HACE1	Cerebral white matter atrophy	HP:0012762
57531	HACE1	Scoliosis	HP:0002650
57531	HACE1	Exophoria	HP:0025313
57531	HACE1	Intellectual disability	HP:0001249
57531	HACE1	Short stature	HP:0004322
57531	HACE1	Seizures	HP:0001250
57531	HACE1	Talipes equinovarus	HP:0001762
57531	HACE1	Ataxia	HP:0001251
57531	HACE1	Muscular hypotonia	HP:0001252
57531	HACE1	Strabismus	HP:0000486
57531	HACE1	Muscular hypotonia of the trunk	HP:0008936
57531	HACE1	Obesity	HP:0001513
57531	HACE1	Deeply set eye	HP:0000490
57531	HACE1	Structural foot deformity	HP:0010219
57531	HACE1	Dysarthria	HP:0001260
57531	HACE1	Progressive spastic paraplegia	HP:0007020
57531	HACE1	Inability to walk	HP:0002540
57531	HACE1	Delayed speech and language development	HP:0000750
57531	HACE1	Global developmental delay	HP:0001263
57531	HACE1	Absent pubertal growth spurt	HP:0031087
57531	HACE1	Kyphosis	HP:0002808
57531	HACE1	Lumbar hyperlordosis	HP:0002938
57531	HACE1	Microcephaly	HP:0000252
189	AGXT	Intermittent claudication	HP:0004417
189	AGXT	Pathologic fracture	HP:0002756
189	AGXT	Cutis marmorata	HP:0000965
189	AGXT	Autosomal recessive inheritance	HP:0000007
189	AGXT	Optic atrophy	HP:0000648
189	AGXT	Recurrent urinary tract infections	HP:0000010
189	AGXT	Abnormality of circulating enzyme level	HP:0011021
189	AGXT	Atrioventricular block	HP:0001678
189	AGXT	Stroke	HP:0001297
189	AGXT	Renal insufficiency	HP:0000083
189	AGXT	Nephrolithiasis	HP:0000787
189	AGXT	Metabolic acidosis	HP:0001942
189	AGXT	Peripheral arterial stenosis	HP:0004950
189	AGXT	Hematuria	HP:0000790
189	AGXT	Gangrene	HP:0100758
189	AGXT	Hyperoxaluria	HP:0003159
189	AGXT	Abnormality of the skeletal system	HP:0000924
189	AGXT	Bone pain	HP:0002653
189	AGXT	Raynaud phenomenon	HP:0030880
189	AGXT	Calcium oxalate nephrolithiasis	HP:0008672
189	AGXT	Abnormality of the dentition	HP:0000164
189	AGXT	Failure to thrive	HP:0001508
189	AGXT	Enuresis	HP:0000805
189	AGXT	Peripheral neuropathy	HP:0009830
189	AGXT	Acrocyanosis	HP:0001063
189	AGXT	Dysuria	HP:0100518
189	AGXT	Retinopathy	HP:0000488
189	AGXT	Retinal crystals	HP:0030507
189	AGXT	Arterial occlusion	HP:0025324
189	AGXT	Anemia	HP:0001903
189	AGXT	Calcinosis cutis	HP:0025520
189	AGXT	Calcinosis	HP:0003761
189	AGXT	Choroidal neovascularization	HP:0011506
189	AGXT	Optic neuropathy	HP:0001138
189	AGXT	Decreased glomerular filtration rate	HP:0012213
189	AGXT	Increased bone mineral density	HP:0011001
189	AGXT	Nephrocalcinosis	HP:0000121
189	AGXT	Atherosclerosis	HP:0002621
189	AGXT	Stage 5 chronic kidney disease	HP:0003774
190	NR0B1	Primary gonadal insufficiency	HP:0008193
190	NR0B1	Gynecomastia	HP:0000771
190	NR0B1	Gonadal dysgenesis	HP:0000133
190	NR0B1	Absence of pubertal development	HP:0008197
190	NR0B1	Autosomal recessive inheritance	HP:0000007
190	NR0B1	X-linked inheritance	HP:0001417
190	NR0B1	Testicular dysgenesis	HP:0008715
190	NR0B1	X-linked recessive inheritance	HP:0001419
190	NR0B1	Primary amenorrhea	HP:0000786
190	NR0B1	Polycystic ovaries	HP:0000147
190	NR0B1	Ovarian gonadoblastoma	HP:0000149
190	NR0B1	Hypoplasia of the vagina	HP:0008726
190	NR0B1	Decreased serum estradiol	HP:0008214
190	NR0B1	Dehydration	HP:0001944
190	NR0B1	Male hypogonadism	HP:0000026
190	NR0B1	Female external genitalia in individual with 46,XY karyotype	HP:0008730
190	NR0B1	Azoospermia	HP:0000027
190	NR0B1	Cryptorchidism	HP:0000028
190	NR0B1	Decreased testicular size	HP:0008734
190	NR0B1	Testicular gonadoblastoma	HP:0000030
190	NR0B1	Oligospermia	HP:0000798
190	NR0B1	Male pseudohermaphroditism	HP:0000037
190	NR0B1	Sparse axillary hair	HP:0002215
190	NR0B1	Elevated circulating follicle stimulating hormone level	HP:0008232
190	NR0B1	Urogenital sinus anomaly	HP:0100779
190	NR0B1	Osteoporosis	HP:0000939
190	NR0B1	Hypogonadotrophic hypogonadism	HP:0000044
190	NR0B1	Abnormality of the scrotum	HP:0000045
190	NR0B1	Hypospadias	HP:0000047
190	NR0B1	Hypergonadotropic hypogonadism	HP:0000815
190	NR0B1	Sparse pubic hair	HP:0002225
190	NR0B1	Male infertility	HP:0003251
190	NR0B1	Micropenis	HP:0000054
190	NR0B1	Delayed puberty	HP:0000823
190	NR0B1	Hyperpigmentation of the skin	HP:0000953
190	NR0B1	Abnormality of the labia	HP:0000058
190	NR0B1	Precocious puberty	HP:0000826
190	NR0B1	Ambiguous genitalia	HP:0000062
190	NR0B1	Delayed skeletal maturation	HP:0002750
190	NR0B1	Elevated circulating luteinizing hormone level	HP:0011969
190	NR0B1	Adrenal hypoplasia	HP:0000835
190	NR0B1	Vanishing testis	HP:0012870
190	NR0B1	Adrenal insufficiency	HP:0000846
190	NR0B1	Abnormal sex determination	HP:0012244
190	NR0B1	Sex reversal	HP:0012245
190	NR0B1	Hyponatremia	HP:0002902
190	NR0B1	Abnormality of cardiovascular system morphology	HP:0030680
190	NR0B1	Clitoral hypertrophy	HP:0008665
190	NR0B1	Decreased circulating aldosterone level	HP:0004319
190	NR0B1	Streak ovary	HP:0010464
190	NR0B1	Decreased circulating cortisol level	HP:0008163
190	NR0B1	Decreased fertility in females	HP:0000868
190	NR0B1	Nephrotic syndrome	HP:0000100
190	NR0B1	Failure to thrive	HP:0001508
190	NR0B1	Muscular dystrophy	HP:0003560
190	NR0B1	Nephroblastoma	HP:0002667
190	NR0B1	Decreased serum testosterone level	HP:0040171
190	NR0B1	Absence of secondary sex characteristics	HP:0008187
190	NR0B1	Renal salt wasting	HP:0000127
57534	MIB1	Left ventricular noncompaction cardiomyopathy	HP:0011664
57534	MIB1	Autosomal dominant inheritance	HP:0000006
57534	MIB1	Left ventricular noncompaction	HP:0030682
191	AHCY	Hypoalbuminemia	HP:0003073
191	AHCY	Ventriculomegaly	HP:0002119
191	AHCY	Autosomal recessive inheritance	HP:0000007
191	AHCY	Developmental regression	HP:0002376
191	AHCY	Hypoplasia of the pons	HP:0012110
191	AHCY	Abnormal facial shape	HP:0001999
191	AHCY	Prolonged prothrombin time	HP:0008151
191	AHCY	Elevated coagulation factor V activity	HP:0011996
191	AHCY	Elevated hepatic transaminase	HP:0002910
191	AHCY	Abnormality of hair texture	HP:0010719
191	AHCY	Hypoplasia of the corpus callosum	HP:0002079
191	AHCY	Widened subarachnoid space	HP:0012704
191	AHCY	Short attention span	HP:0000736
191	AHCY	Delayed myelination	HP:0012448
191	AHCY	Intellectual disability	HP:0001249
191	AHCY	Hypermethioninemia	HP:0003235
191	AHCY	Pes planus	HP:0001763
191	AHCY	Failure to thrive	HP:0001508
191	AHCY	Abnormality of the dentition	HP:0000164
191	AHCY	Elevated serum creatine kinase	HP:0003236
191	AHCY	Sensorimotor neuropathy	HP:0007141
191	AHCY	CNS hypomyelination	HP:0003429
191	AHCY	Cardiomyopathy	HP:0001638
191	AHCY	Growth delay	HP:0001510
191	AHCY	Muscular dystrophy	HP:0003560
191	AHCY	Reduced factor VII activity	HP:0008169
191	AHCY	Cerebellar hypoplasia	HP:0001321
191	AHCY	Hyperintensity of cerebral white matter on MRI	HP:0030890
191	AHCY	Global developmental delay	HP:0001263
191	AHCY	Hyperhomocystinemia	HP:0002160
191	AHCY	Infantile muscular hypotonia	HP:0008947
191	AHCY	Poor head control	HP:0002421
191	AHCY	Esotropia	HP:0000565
191	AHCY	Motor delay	HP:0001270
191	AHCY	Reduced antithrombin III activity	HP:0001976
191	AHCY	Hepatocellular carcinoma	HP:0001402
191	AHCY	Microcephaly	HP:0000252
191	AHCY	Hypofibrinogenemia	HP:0011900
191	AHCY	Hydrops fetalis	HP:0001789
191	AHCY	Respiratory failure	HP:0002878
57538	ALPK3	Mitral regurgitation	HP:0001653
57538	ALPK3	Cardiomegaly	HP:0001640
57538	ALPK3	Prolonged QT interval	HP:0001657
57538	ALPK3	Tricuspid regurgitation	HP:0005180
57539	WDR35	Macrocephaly	HP:0000256
57539	WDR35	Omphalocele	HP:0001539
57539	WDR35	Short ribs	HP:0000773
57539	WDR35	Narrow chest	HP:0000774
57539	WDR35	Cataract	HP:0000518
57539	WDR35	Autosomal recessive inheritance	HP:0000007
57539	WDR35	Dolichocephaly	HP:0000268
57539	WDR35	Urethrovaginal fistula	HP:0008716
57539	WDR35	Prominent occiput	HP:0000269
57539	WDR35	Sparse eyebrow	HP:0045075
57539	WDR35	Retrognathia	HP:0000278
57539	WDR35	Inguinal hernia	HP:0000023
57539	WDR35	Midface retrusion	HP:0011800
57539	WDR35	Polyhydramnios	HP:0001561
57539	WDR35	Dandy-Walker malformation	HP:0001305
57539	WDR35	Cryptorchidism	HP:0000028
57539	WDR35	Epicanthus	HP:0000286
57539	WDR35	Hypoplasia of penis	HP:0008736
57539	WDR35	Broad philtrum	HP:0000289
57539	WDR35	Myopia	HP:0000545
57539	WDR35	Full cheeks	HP:0000293
57539	WDR35	Pulmonary hypoplasia	HP:0002089
57539	WDR35	Cerebellar hypoplasia	HP:0001321
57539	WDR35	Respiratory insufficiency	HP:0002093
57539	WDR35	Ectopic anus	HP:0004397
57539	WDR35	Hypospadias	HP:0000047
57539	WDR35	High hypermetropia	HP:0008499
57539	WDR35	Congenital hepatic fibrosis	HP:0002612
57539	WDR35	Biliary cirrhosis	HP:0002613
57539	WDR35	Bifid tongue	HP:0010297
57539	WDR35	Short uvula	HP:0010812
57539	WDR35	Hypertelorism	HP:0000316
57539	WDR35	Joint hyperflexibility	HP:0005692
57539	WDR35	Ambiguous genitalia	HP:0000062
57539	WDR35	Smooth philtrum	HP:0000319
57539	WDR35	Metopic synostosis	HP:0011330
57539	WDR35	Short thorax	HP:0010306
57539	WDR35	Bifid epiglottis	HP:0010564
57539	WDR35	Blepharophimosis	HP:0000581
57539	WDR35	Upslanted palpebral fissure	HP:0000582
57539	WDR35	Plagiocephaly	HP:0001357
57539	WDR35	Fused teeth	HP:0011090
57539	WDR35	Craniosynostosis	HP:0001363
57539	WDR35	Renal insufficiency	HP:0000083
57539	WDR35	Lethal skeletal dysplasia	HP:0005716
57539	WDR35	Narrow forehead	HP:0000341
57539	WDR35	Bowing of the long bones	HP:0006487
57539	WDR35	Long philtrum	HP:0000343
57539	WDR35	Hyperbilirubinemia	HP:0002904
57539	WDR35	Renal hypoplasia	HP:0000089
57539	WDR35	Hypotelorism	HP:0000601
57539	WDR35	Micrognathia	HP:0000347
57539	WDR35	High forehead	HP:0000348
57539	WDR35	Elevated hepatic transaminase	HP:0002910
57539	WDR35	Renal cyst	HP:0000107
57539	WDR35	Patent ductus arteriosus	HP:0001643
57539	WDR35	Joint laxity	HP:0001388
57539	WDR35	Polycystic kidney dysplasia	HP:0000113
57539	WDR35	Low-set ears	HP:0000369
57539	WDR35	Clinodactyly of the 5th finger	HP:0004209
57539	WDR35	Hypoplastic scapulae	HP:0000882
57539	WDR35	Cloverleaf skull	HP:0002676
57539	WDR35	Cholestasis	HP:0001396
57539	WDR35	Patent foramen ovale	HP:0001655
57539	WDR35	Horizontal ribs	HP:0000888
57539	WDR35	Abnormality of the pinna	HP:0000377
57539	WDR35	Hydronephrosis	HP:0000126
57539	WDR35	Nystagmus	HP:0000639
57539	WDR35	Bile duct proliferation	HP:0001408
57539	WDR35	Brachydactyly	HP:0001156
57539	WDR35	Clinodactyly	HP:0030084
57539	WDR35	Sparse hair	HP:0008070
57539	WDR35	Syndactyly	HP:0001159
57539	WDR35	Postaxial hand polydactyly	HP:0001162
57539	WDR35	Sparse eyelashes	HP:0000653
57539	WDR35	Abnormal pelvis bone ossification	HP:0009106
57539	WDR35	Acidosis	HP:0001941
57539	WDR35	Preaxial hand polydactyly	HP:0001177
57539	WDR35	Short distal phalanx of finger	HP:0009882
57539	WDR35	Hypodontia	HP:0000668
57539	WDR35	Depressed nasal bridge	HP:0005280
57539	WDR35	Postaxial polydactyly	HP:0100259
57539	WDR35	Fine hair	HP:0002213
57539	WDR35	Micromelia	HP:0002983
57539	WDR35	Taurodontia	HP:0000679
57539	WDR35	Disproportionate short-limb short stature	HP:0008873
57539	WDR35	Abnormality of dental enamel	HP:0000682
57539	WDR35	Osteoporosis	HP:0000939
57539	WDR35	Abnormal diaphysis morphology	HP:0000940
57539	WDR35	Cleft palate	HP:0000175
57539	WDR35	Wide nasal bridge	HP:0000431
57539	WDR35	Widely spaced teeth	HP:0000687
57539	WDR35	Left ventricular hypertrophy	HP:0001712
57539	WDR35	Abnormality of the metaphysis	HP:0000944
57539	WDR35	Uterus didelphys	HP:0003762
57539	WDR35	Microdontia	HP:0000691
57539	WDR35	Portal fibrosis	HP:0006580
57539	WDR35	Short palm	HP:0004279
57539	WDR35	Wide nose	HP:0000445
57539	WDR35	Hepatomegaly	HP:0002240
57539	WDR35	Abnormal toenail morphology	HP:0008388
57539	WDR35	Abdominal distention	HP:0003270
57539	WDR35	Cholangitis	HP:0030151
57539	WDR35	Short lingual frenulum	HP:0000200
57539	WDR35	Ectodermal dysplasia	HP:0000968
57539	WDR35	Rhizomelia	HP:0008905
57539	WDR35	Polydactyly	HP:0010442
57539	WDR35	Cleft upper lip	HP:0000204
57539	WDR35	Agenesis of permanent teeth	HP:0006349
57539	WDR35	Cutis laxa	HP:0000973
57539	WDR35	Abnormal fingernail morphology	HP:0001231
57539	WDR35	Anteverted nares	HP:0000463
57539	WDR35	Splenomegaly	HP:0001744
57539	WDR35	Short long bone	HP:0003026
57539	WDR35	Mesomelia	HP:0003027
57539	WDR35	Polysplenia	HP:0001748
57539	WDR35	Finger syndactyly	HP:0006101
57539	WDR35	Short neck	HP:0000470
57539	WDR35	Facial cleft	HP:0002006
57539	WDR35	Frontal bossing	HP:0002007
57539	WDR35	Abnormality of cardiovascular system morphology	HP:0030680
57539	WDR35	High palate	HP:0000218
57539	WDR35	Cystic hygroma	HP:0000476
57539	WDR35	Narrow palpebral fissure	HP:0045025
57539	WDR35	Anal atresia	HP:0002023
57539	WDR35	Everted lower lip vermilion	HP:0000232
57539	WDR35	Aplasia/Hypoplasia of the eyebrow	HP:0100840
57539	WDR35	Short foot	HP:0001773
57539	WDR35	Esophageal atresia	HP:0002032
57539	WDR35	Thoracic dysplasia	HP:0006644
57539	WDR35	Absent or minimally ossified vertebral bodies	HP:0004599
57539	WDR35	Telecanthus	HP:0000506
57539	WDR35	Agenesis of corpus callosum	HP:0001274
57539	WDR35	Hydrops fetalis	HP:0001789
57539	WDR35	Pectus excavatum	HP:0000767
196	AHR	Abnormal electroretinogram	HP:0000512
196	AHR	Hyperreflexia	HP:0001347
196	AHR	Cataract	HP:0000518
196	AHR	Hypogonadism	HP:0000135
196	AHR	Optic atrophy	HP:0000648
196	AHR	Hyperinsulinemia	HP:0000842
196	AHR	Anteverted nares	HP:0000463
196	AHR	Conductive hearing impairment	HP:0000405
196	AHR	Sensorineural hearing impairment	HP:0000407
196	AHR	Abnormality of retinal pigmentation	HP:0007703
196	AHR	Ophthalmoplegia	HP:0000602
196	AHR	Type II diabetes mellitus	HP:0005978
196	AHR	Atypical scarring of skin	HP:0000987
196	AHR	Hypoplasia of penis	HP:0008736
196	AHR	Intellectual disability	HP:0001249
196	AHR	Abnormal testis morphology	HP:0000035
196	AHR	Photophobia	HP:0000613
196	AHR	Obesity	HP:0001513
196	AHR	Blindness	HP:0000618
196	AHR	Abnormal retinal vascular morphology	HP:0008046
196	AHR	Wide nasal bridge	HP:0000431
196	AHR	Keratoconus	HP:0000563
196	AHR	Glaucoma	HP:0000501
196	AHR	Progressive night blindness	HP:0007675
196	AHR	Nystagmus	HP:0000639
197	AHSG	Ichthyosis	HP:0008064
197	AHSG	Brachydactyly	HP:0001156
197	AHSG	Autosomal recessive inheritance	HP:0000007
197	AHSG	Short corpus callosum	HP:0200012
197	AHSG	Macrotia	HP:0000400
197	AHSG	Split hand	HP:0001171
197	AHSG	Scoliosis	HP:0002650
197	AHSG	Flexion contracture	HP:0001371
197	AHSG	Sparse scalp hair	HP:0002209
197	AHSG	Intellectual disability	HP:0001249
197	AHSG	Short stature	HP:0004322
197	AHSG	Seizures	HP:0001250
197	AHSG	Muscular hypotonia	HP:0001252
197	AHSG	Photophobia	HP:0000613
197	AHSG	Intellectual disability, progressive	HP:0006887
197	AHSG	Aplasia/Hypoplasia of the eyebrow	HP:0100840
197	AHSG	Hearing impairment	HP:0000365
197	AHSG	Hypergonadotropic hypogonadism	HP:0000815
197	AHSG	Intellectual disability, severe	HP:0010864
197	AHSG	EEG abnormality	HP:0002353
197	AHSG	Abnormal nasal morphology	HP:0005105
197	AHSG	Alopecia universalis	HP:0002289
197	AHSG	Sparse body hair	HP:0002231
197	AHSG	Microcephaly	HP:0000252
197	AHSG	Alopecia	HP:0001596
197	AHSG	Delayed skeletal maturation	HP:0002750
57545	CC2D2A	Macrocephaly	HP:0000256
57545	CC2D2A	Multicystic kidney dysplasia	HP:0000003
57545	CC2D2A	Cataract	HP:0000518
57545	CC2D2A	Autosomal recessive inheritance	HP:0000007
57545	CC2D2A	Gait disturbance	HP:0001288
57545	CC2D2A	Infantile onset	HP:0003593
57545	CC2D2A	Generalized hypotonia	HP:0001290
57545	CC2D2A	Anophthalmia	HP:0000528
57545	CC2D2A	Anencephaly	HP:0002323
57545	CC2D2A	Chronic hepatic failure	HP:0100626
57545	CC2D2A	Abnormal chorioretinal morphology	HP:0000532
57545	CC2D2A	Long face	HP:0000276
57545	CC2D2A	Inguinal hernia	HP:0000023
57545	CC2D2A	Dandy-Walker malformation	HP:0001305
57545	CC2D2A	Oligohydramnios	HP:0001562
57545	CC2D2A	Cryptorchidism	HP:0000028
57545	CC2D2A	Encephalocele	HP:0002084
57545	CC2D2A	Male pseudohermaphroditism	HP:0000037
57545	CC2D2A	Full cheeks	HP:0000293
57545	CC2D2A	Foot polydactyly	HP:0001829
57545	CC2D2A	Occipital encephalocele	HP:0002085
57545	CC2D2A	Postaxial foot polydactyly	HP:0001830
57545	CC2D2A	Intellectual disability, moderate	HP:0002342
57545	CC2D2A	Cerebellar vermis hypoplasia	HP:0001320
57545	CC2D2A	Pulmonary hypoplasia	HP:0002089
57545	CC2D2A	Retinal dystrophy	HP:0000556
57545	CC2D2A	Abnormal internal genitalia	HP:0000812
57545	CC2D2A	Cystic liver disease	HP:0006706
57545	CC2D2A	Congenital hepatic fibrosis	HP:0002612
57545	CC2D2A	Hypertension	HP:0000822
57545	CC2D2A	Aplasia/Hypoplasia of the tongue	HP:0010295
57545	CC2D2A	Chorioretinal coloboma	HP:0000567
57545	CC2D2A	Round face	HP:0000311
57545	CC2D2A	Microphthalmia	HP:0000568
57545	CC2D2A	Apnea	HP:0002104
57545	CC2D2A	Tremor	HP:0001337
57545	CC2D2A	Dilatation	HP:0002617
57545	CC2D2A	Hypertelorism	HP:0000316
57545	CC2D2A	Hyperreflexia	HP:0001347
57545	CC2D2A	Urethral atresia	HP:0000068
57545	CC2D2A	Biparietal narrowing	HP:0004422
57545	CC2D2A	Ventriculomegaly	HP:0002119
57545	CC2D2A	Ureteral duplication	HP:0000073
57545	CC2D2A	Optic nerve coloboma	HP:0000588
57545	CC2D2A	Coloboma	HP:0000589
57545	CC2D2A	Neoplasm of the liver	HP:0002896
57545	CC2D2A	Renal insufficiency	HP:0000083
57545	CC2D2A	Sloping forehead	HP:0000340
57545	CC2D2A	Bowing of the long bones	HP:0006487
57545	CC2D2A	Scoliosis	HP:0002650
57545	CC2D2A	Nephronophthisis	HP:0000090
57545	CC2D2A	Micrognathia	HP:0000347
57545	CC2D2A	Talipes	HP:0001883
57545	CC2D2A	Elevated hepatic transaminase	HP:0002910
57545	CC2D2A	Abnormality of the hypothalamus-pituitary axis	HP:0000864
57545	CC2D2A	Iris coloboma	HP:0000612
57545	CC2D2A	Blindness	HP:0000618
57545	CC2D2A	Renal cyst	HP:0000107
57545	CC2D2A	Low-set, posteriorly rotated ears	HP:0000368
57545	CC2D2A	Nephropathy	HP:0000112
57545	CC2D2A	Low-set ears	HP:0000369
57545	CC2D2A	Cirrhosis	HP:0001394
57545	CC2D2A	Molar tooth sign on MRI	HP:0002419
57545	CC2D2A	Hepatic fibrosis	HP:0001395
57545	CC2D2A	Aplasia/Hypoplasia of the iris	HP:0008053
57545	CC2D2A	Pancreatic fibrosis	HP:0100732
57545	CC2D2A	Nystagmus	HP:0000639
57545	CC2D2A	Intrahepatic biliary atresia	HP:0005248
57545	CC2D2A	Bile duct proliferation	HP:0001408
57545	CC2D2A	Portal hypertension	HP:0001409
57545	CC2D2A	Sclerocornea	HP:0000647
57545	CC2D2A	Optic atrophy	HP:0000648
57545	CC2D2A	Hand polydactyly	HP:0001161
57545	CC2D2A	Postaxial hand polydactyly	HP:0001162
57545	CC2D2A	Oculomotor apraxia	HP:0000657
57545	CC2D2A	Heterogeneous	HP:0001425
57545	CC2D2A	Preaxial hand polydactyly	HP:0001177
57545	CC2D2A	Wide mouth	HP:0000154
57545	CC2D2A	Abnormality of abdomen morphology	HP:0001438
57545	CC2D2A	Situs inversus totalis	HP:0001696
57545	CC2D2A	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
57545	CC2D2A	Feeding difficulties in infancy	HP:0008872
57545	CC2D2A	Prominent nasal bridge	HP:0000426
57545	CC2D2A	Cleft palate	HP:0000175
57545	CC2D2A	Hepatomegaly	HP:0002240
57545	CC2D2A	Aplasia/Hypoplasia of the cerebellum	HP:0007360
57545	CC2D2A	Pancreatic cysts	HP:0001737
57545	CC2D2A	Depressed nasal ridge	HP:0000457
57545	CC2D2A	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
57545	CC2D2A	Oral cleft	HP:0000202
57545	CC2D2A	Aganglionic megacolon	HP:0002251
57545	CC2D2A	Cleft upper lip	HP:0000204
57545	CC2D2A	Anteverted nares	HP:0000463
57545	CC2D2A	Splenomegaly	HP:0001744
57545	CC2D2A	Asplenia	HP:0001746
57545	CC2D2A	Accessory spleen	HP:0001747
57545	CC2D2A	Multiple small medullary renal cysts	HP:0008659
57545	CC2D2A	Lobar holoprosencephaly	HP:0006870
57545	CC2D2A	Abnormality of cardiovascular system morphology	HP:0030680
57545	CC2D2A	Autistic behavior	HP:0000729
57545	CC2D2A	True hermaphroditism	HP:0010459
57545	CC2D2A	Furrowed tongue	HP:0000221
57545	CC2D2A	Abnormality of neuronal migration	HP:0002269
57545	CC2D2A	Intellectual disability	HP:0001249
57545	CC2D2A	Microcornea	HP:0000482
57545	CC2D2A	Seizures	HP:0001250
57545	CC2D2A	Talipes equinovarus	HP:0001762
57545	CC2D2A	Ataxia	HP:0001251
57545	CC2D2A	Astigmatism	HP:0000483
57545	CC2D2A	Muscular hypotonia	HP:0001252
57545	CC2D2A	Tachypnea	HP:0002789
57545	CC2D2A	Strabismus	HP:0000486
57545	CC2D2A	Growth delay	HP:0001510
57545	CC2D2A	Spasticity	HP:0001257
57545	CC2D2A	Hydrocephalus	HP:0000238
57545	CC2D2A	Global developmental delay	HP:0001263
57545	CC2D2A	Highly arched eyebrow	HP:0002553
57545	CC2D2A	Visual impairment	HP:0000505
57545	CC2D2A	Microcephaly	HP:0000252
57545	CC2D2A	Ptosis	HP:0000508
57545	CC2D2A	Rod-cone dystrophy	HP:0000510
203	AK1	Hemolytic anemia	HP:0001878
203	AK1	Autosomal recessive inheritance	HP:0000007
204	AK2	Chronic otitis media	HP:0000389
204	AK2	Sepsis	HP:0100806
204	AK2	Autosomal recessive inheritance	HP:0000007
204	AK2	Hypoplasia of the thymus	HP:0000778
204	AK2	Combined immunodeficiency	HP:0005387
204	AK2	Severe combined immunodeficiency	HP:0004430
204	AK2	Abnormality of neutrophils	HP:0001874
204	AK2	Aplasia/Hypoplasia of the thymus	HP:0010515
204	AK2	Abnormality of mitochondrial metabolism	HP:0003287
204	AK2	Dehydration	HP:0001944
204	AK2	Fever	HP:0001945
204	AK2	Decreased antibody level in blood	HP:0004313
204	AK2	Leukopenia	HP:0001882
204	AK2	Skin rash	HP:0000988
204	AK2	Recurrent respiratory infections	HP:0002205
204	AK2	Diarrhea	HP:0002014
204	AK2	Weight loss	HP:0001824
204	AK2	Lymphopenia	HP:0001888
204	AK2	Failure to thrive	HP:0001508
204	AK2	Congenital agranulocytosis	HP:0005541
204	AK2	Malabsorption	HP:0002024
204	AK2	Skin ulcer	HP:0200042
204	AK2	Lack of T cell function	HP:0005354
204	AK2	Hearing impairment	HP:0000365
204	AK2	Anemia	HP:0001903
204	AK2	Impaired T cell function	HP:0005435
204	AK2	Cellular immunodeficiency	HP:0005374
8398	PLA2G6	Iron accumulation in brain	HP:0012675
8398	PLA2G6	Areflexia	HP:0001284
8398	PLA2G6	Neurodegeneration	HP:0002180
8398	PLA2G6	Autosomal recessive inheritance	HP:0000007
8398	PLA2G6	Optic atrophy	HP:0000648
8398	PLA2G6	Clumsiness	HP:0002312
8398	PLA2G6	Abnormality of visual evoked potentials	HP:0000649
8398	PLA2G6	Infantile onset	HP:0003593
8398	PLA2G6	Neurofibrillary tangles	HP:0002185
8398	PLA2G6	Apraxia	HP:0002186
8398	PLA2G6	Generalized hypotonia	HP:0001290
8398	PLA2G6	Cerebral atrophy	HP:0002059
8398	PLA2G6	Unsteady gait	HP:0002317
8398	PLA2G6	Morphological abnormality of the pyramidal tract	HP:0002062
8398	PLA2G6	Rigidity	HP:0002063
8398	PLA2G6	Abnormal circulating creatine kinase concentration	HP:0040081
8398	PLA2G6	Gait ataxia	HP:0002066
8398	PLA2G6	Eyelid apraxia	HP:0000658
8398	PLA2G6	Generalized cerebral atrophy/hypoplasia	HP:0007058
8398	PLA2G6	Bradykinesia	HP:0002067
8398	PLA2G6	Abnormality of metabolism/homeostasis	HP:0001939
8398	PLA2G6	Parkinsonism	HP:0001300
8398	PLA2G6	Focal dystonia	HP:0004373
8398	PLA2G6	Chorea	HP:0002072
8398	PLA2G6	Dyslexia	HP:0010522
8398	PLA2G6	Dysdiadochokinesis	HP:0002075
8398	PLA2G6	Dysmetria	HP:0001310
8398	PLA2G6	Babinski sign	HP:0003487
8398	PLA2G6	Intention tremor	HP:0002080
8398	PLA2G6	Elevated serum creatine kinase	HP:0003236
8398	PLA2G6	Stiff hip	HP:0025262
8398	PLA2G6	Dystonia	HP:0001332
8398	PLA2G6	Myoclonus	HP:0001336
8398	PLA2G6	Tremor	HP:0001337
8398	PLA2G6	Hypometric saccades	HP:0000571
8398	PLA2G6	Visual loss	HP:0000572
8398	PLA2G6	Feeding difficulties	HP:0011968
8398	PLA2G6	Hyperreflexia	HP:0001347
8398	PLA2G6	Childhood onset	HP:0011463
8398	PLA2G6	Developmental regression	HP:0002376
8398	PLA2G6	Emotional lability	HP:0000712
8398	PLA2G6	Depressivity	HP:0000716
8398	PLA2G6	Aggressive behavior	HP:0000718
8398	PLA2G6	Spastic tetraplegia	HP:0002510
8398	PLA2G6	Hypomimic face	HP:0000338
8398	PLA2G6	Prominent forehead	HP:0011220
8398	PLA2G6	Frontal bossing	HP:0002007
8398	PLA2G6	Abnormal pyramidal sign	HP:0007256
8398	PLA2G6	Lewy bodies	HP:0100315
8398	PLA2G6	Micrognathia	HP:0000347
8398	PLA2G6	Impaired smooth pursuit	HP:0007772
8398	PLA2G6	Progressive	HP:0003676
8398	PLA2G6	Talipes calcaneovalgus	HP:0001884
8398	PLA2G6	Supranuclear gaze palsy	HP:0000605
8398	PLA2G6	Rapidly progressive	HP:0003678
8398	PLA2G6	Dysphagia	HP:0002015
8398	PLA2G6	Paranoia	HP:0011999
8398	PLA2G6	Short attention span	HP:0000736
8398	PLA2G6	Frontotemporal dementia	HP:0002145
8398	PLA2G6	Neuronal loss in central nervous system	HP:0002529
8398	PLA2G6	Intellectual disability	HP:0001249
8398	PLA2G6	Seizures	HP:0001250
8398	PLA2G6	Ataxia	HP:0001251
8398	PLA2G6	Muscular hypotonia	HP:0001252
8398	PLA2G6	Cachexia	HP:0004326
8398	PLA2G6	Strabismus	HP:0000486
8398	PLA2G6	Impulsivity	HP:0100710
8398	PLA2G6	Spasticity	HP:0001257
8398	PLA2G6	Global brain atrophy	HP:0002283
8398	PLA2G6	Dysarthria	HP:0001260
8398	PLA2G6	Frontotemporal cerebral atrophy	HP:0006892
8398	PLA2G6	Hearing impairment	HP:0000365
8398	PLA2G6	Delayed speech and language development	HP:0000750
8398	PLA2G6	Personality changes	HP:0000751
8398	PLA2G6	Global developmental delay	HP:0001263
8398	PLA2G6	Hyperactivity	HP:0000752
8398	PLA2G6	Progressive extrapyramidal movement disorder	HP:0007153
8398	PLA2G6	EMG: chronic denervation signs	HP:0003444
8398	PLA2G6	Mental deterioration	HP:0001268
8398	PLA2G6	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
8398	PLA2G6	Cerebellar atrophy	HP:0001272
8398	PLA2G6	Visual impairment	HP:0000505
8398	PLA2G6	Decreased nerve conduction velocity	HP:0000762
8398	PLA2G6	Gliosis	HP:0002171
8398	PLA2G6	Postural instability	HP:0002172
8398	PLA2G6	Short nose	HP:0003196
8398	PLA2G6	Generalized muscle weakness	HP:0003324
8398	PLA2G6	Hypertonia	HP:0001276
8398	PLA2G6	Nystagmus	HP:0000639
207	AKT1	Lipoma	HP:0012032
207	AKT1	Macrocephaly	HP:0000256
207	AKT1	Sirenomelia	HP:0010497
207	AKT1	Macrodactyly	HP:0004099
207	AKT1	Gynecomastia	HP:0000771
207	AKT1	Epidermal acanthosis	HP:0025092
207	AKT1	Hemangioma	HP:0001028
207	AKT1	Ovarian neoplasm	HP:0100615
207	AKT1	Cataract	HP:0000518
207	AKT1	Autosomal dominant inheritance	HP:0000006
207	AKT1	Subcutaneous lipoma	HP:0001031
207	AKT1	Proptosis	HP:0000520
207	AKT1	Infantile onset	HP:0003593
207	AKT1	Hip dislocation	HP:0002827
207	AKT1	Vascular skin abnormality	HP:0011276
207	AKT1	Dolichocephaly	HP:0000268
207	AKT1	Metatarsus valgus	HP:0010508
207	AKT1	Dysgerminoma	HP:0100621
207	AKT1	Generalized hyperpigmentation	HP:0007440
207	AKT1	Asymmetry of the thorax	HP:0001555
207	AKT1	Thymus hyperplasia	HP:0010516
207	AKT1	Long face	HP:0000276
207	AKT1	Abnormality of retinal pigmentation	HP:0007703
207	AKT1	Cavernous hemangioma	HP:0001048
207	AKT1	Hypopigmented skin patches	HP:0001053
207	AKT1	Hallux valgus	HP:0001822
207	AKT1	Bone cyst	HP:0012062
207	AKT1	Intention tremor	HP:0002080
207	AKT1	Myopia	HP:0000545
207	AKT1	Hydrocele testis	HP:0000034
207	AKT1	Testicular neoplasm	HP:0010788
207	AKT1	Abnormality of the penis	HP:0000036
207	AKT1	Abnormal cerebellum morphology	HP:0001317
207	AKT1	Hamartomatous polyposis	HP:0004390
207	AKT1	Intellectual disability, moderate	HP:0002342
207	AKT1	Thyroiditis	HP:0100646
207	AKT1	Long penis	HP:0000040
207	AKT1	Meningioma	HP:0002858
207	AKT1	Buphthalmos	HP:0000557
207	AKT1	Melanoma	HP:0002861
207	AKT1	Macroorchidism	HP:0000053
207	AKT1	Abnormal lung lobation	HP:0002101
207	AKT1	Hypothyroidism	HP:0000821
207	AKT1	Chorioretinal coloboma	HP:0000567
207	AKT1	Round face	HP:0000311
207	AKT1	Depigmentation/hyperpigmentation of skin	HP:0007483
207	AKT1	Hypertelorism	HP:0000316
207	AKT1	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
207	AKT1	Abnormality of the nail	HP:0001597
207	AKT1	Epidermal nevus	HP:0010816
207	AKT1	Deep venous thrombosis	HP:0002625
207	AKT1	Thrombophlebitis	HP:0004418
207	AKT1	Arterial thrombosis	HP:0004420
207	AKT1	Facial asymmetry	HP:0000324
207	AKT1	Hyperthyroidism	HP:0000836
207	AKT1	Varicocele	HP:0012871
207	AKT1	Hypoplasia of the maxilla	HP:0000327
207	AKT1	Uterine leiomyosarcoma	HP:0002891
207	AKT1	Follicular thyroid carcinoma	HP:0006731
207	AKT1	Reduced number of teeth	HP:0009804
207	AKT1	Angioid streaks of the fundus	HP:0001102
207	AKT1	Endometrial carcinoma	HP:0012114
207	AKT1	Craniosynostosis	HP:0001363
207	AKT1	Transitional cell carcinoma of the bladder	HP:0006740
207	AKT1	Goiter	HP:0000853
207	AKT1	Thyroid adenoma	HP:0000854
207	AKT1	Spinal canal stenosis	HP:0003416
207	AKT1	Facial hyperostosis	HP:0005465
207	AKT1	Scoliosis	HP:0002650
207	AKT1	Abnormality of the cardiovascular system	HP:0001626
207	AKT1	Micrognathia	HP:0000347
207	AKT1	Skeletal dysplasia	HP:0002652
207	AKT1	Progressive	HP:0003676
207	AKT1	Neoplasm of the stomach	HP:0006753
207	AKT1	Papule	HP:0200034
207	AKT1	Diabetes insipidus	HP:0000873
207	AKT1	Renal cyst	HP:0000107
207	AKT1	Joint stiffness	HP:0001387
207	AKT1	Sudden cardiac death	HP:0001645
207	AKT1	Hearing impairment	HP:0000365
207	AKT1	Low-set ears	HP:0000369
207	AKT1	Clinodactyly of the 5th finger	HP:0004209
207	AKT1	Skin tags	HP:0010609
207	AKT1	Limbal dermoid	HP:0001140
207	AKT1	Ovarian papillary adenocarcinoma	HP:0006774
207	AKT1	Mandibular hyperostosis	HP:0004472
207	AKT1	Narrow internal auditory canal	HP:0011386
207	AKT1	Retinal hamartoma	HP:0009594
207	AKT1	Bronchogenic cyst	HP:0100730
207	AKT1	Fibroadenoma of the breast	HP:0010619
207	AKT1	Colorectal polyposis	HP:0200063
207	AKT1	Decreased muscle mass	HP:0003199
207	AKT1	Abnormal subcutaneous fat tissue distribution	HP:0007552
207	AKT1	Spinal cord compression	HP:0002176
207	AKT1	Progressive macrocephaly	HP:0004481
207	AKT1	Myofibrillar myopathy	HP:0003715
207	AKT1	Brachydactyly	HP:0001156
207	AKT1	Central heterochromia	HP:0007818
207	AKT1	Calvarial hyperostosis	HP:0004490
207	AKT1	Ovarian cyst	HP:0000138
207	AKT1	Abnormality of the metacarpal bones	HP:0001163
207	AKT1	Multiple cafe-au-lait spots	HP:0007565
207	AKT1	Macrotia	HP:0000400
207	AKT1	Heterogeneous	HP:0001425
207	AKT1	Abnormality of metabolism/homeostasis	HP:0001939
207	AKT1	Somatic mutation	HP:0001428
207	AKT1	Visceral angiomatosis	HP:0100761
207	AKT1	Pulmonary embolism	HP:0002204
207	AKT1	Lymphangioma	HP:0100764
207	AKT1	Carious teeth	HP:0000670
207	AKT1	Macroglossia	HP:0000158
207	AKT1	Recurrent infections	HP:0002719
207	AKT1	Depressed nasal bridge	HP:0005280
207	AKT1	Narrow mouth	HP:0000160
207	AKT1	Sporadic	HP:0003745
207	AKT1	Neoplasm of the thymus	HP:0100521
207	AKT1	Exostoses	HP:0100777
207	AKT1	Abnormality of dental enamel	HP:0000682
207	AKT1	Conjunctival hamartoma	HP:0100780
207	AKT1	Neoplasm of the lung	HP:0100526
207	AKT1	Venous malformation	HP:0012721
207	AKT1	Nevus	HP:0003764
207	AKT1	Generalized hirsutism	HP:0002230
207	AKT1	Capillary hemangioma	HP:0005306
207	AKT1	Breast carcinoma	HP:0003002
207	AKT1	Arteriovenous malformation	HP:0100026
207	AKT1	Macule	HP:0012733
207	AKT1	Cognitive impairment	HP:0100543
207	AKT1	Kyphoscoliosis	HP:0002751
207	AKT1	Thin bony cortex	HP:0002753
207	AKT1	Open mouth	HP:0000194
207	AKT1	Hyperkeratosis	HP:0000962
207	AKT1	Papilloma	HP:0012740
207	AKT1	Thick nasal alae	HP:0009928
207	AKT1	Subcutaneous nodule	HP:0001482
207	AKT1	Abnormality of the wrist	HP:0003019
207	AKT1	Palmoplantar hyperkeratosis	HP:0000972
207	AKT1	Autism	HP:0000717
207	AKT1	Colonic diverticula	HP:0002253
207	AKT1	Lower limb asymmetry	HP:0100559
207	AKT1	Anteverted nares	HP:0000463
207	AKT1	Splenomegaly	HP:0001744
207	AKT1	Abnormality of the neck	HP:0000464
207	AKT1	Renal cell carcinoma	HP:0005584
207	AKT1	Upper limb asymmetry	HP:0100560
207	AKT1	Increased intracranial pressure	HP:0002516
207	AKT1	Finger syndactyly	HP:0006101
207	AKT1	Palmoplantar keratoderma	HP:0000982
207	AKT1	High palate	HP:0000218
207	AKT1	Retinal nonattachment	HP:0007899
207	AKT1	Generalized hyperkeratosis	HP:0005595
207	AKT1	Furrowed tongue	HP:0000221
207	AKT1	Intellectual disability	HP:0001249
207	AKT1	Seizures	HP:0001250
207	AKT1	Short stature	HP:0004322
207	AKT1	Mucosal telangiectasiae	HP:0100579
207	AKT1	Melanocytic nevus	HP:0000995
207	AKT1	Enlarged polycystic ovaries	HP:0008675
207	AKT1	Ataxia	HP:0001251
207	AKT1	Failure to thrive	HP:0001508
207	AKT1	Strabismus	HP:0000486
207	AKT1	Cachexia	HP:0004326
207	AKT1	Irregular hyperpigmentation	HP:0007400
207	AKT1	Intellectual disability, mild	HP:0001256
207	AKT1	Gray matter heterotopia	HP:0002282
207	AKT1	Hypertrophy of skin of soles	HP:0007403
207	AKT1	Lymphedema	HP:0001004
207	AKT1	Downslanted palpebral fissures	HP:0000494
207	AKT1	Disproportionate tall stature	HP:0001519
207	AKT1	Global developmental delay	HP:0001263
207	AKT1	Abnormal form of the vertebral bodies	HP:0003312
207	AKT1	Multiple lipomas	HP:0001012
207	AKT1	Kyphosis	HP:0002808
207	AKT1	Adenoma sebaceum	HP:0009720
207	AKT1	Hemihypertrophy	HP:0001528
207	AKT1	Ptosis	HP:0000508
207	AKT1	Adult onset	HP:0003581
207	AKT1	Cellular immunodeficiency	HP:0005374
207	AKT1	Pectus excavatum	HP:0000767
164045	HFM1	Premature ovarian insufficiency	HP:0008209
164045	HFM1	Increased circulating gonadotropin level	HP:0000837
164045	HFM1	Autosomal recessive inheritance	HP:0000007
164045	HFM1	Amenorrhea	HP:0000141
208	AKT2	Hepatomegaly	HP:0002240
208	AKT2	Late onset	HP:0003584
208	AKT2	Hypoketotic hypoglycemia	HP:0001985
208	AKT2	Gynecomastia	HP:0000771
208	AKT2	Autosomal dominant inheritance	HP:0000006
208	AKT2	Autosomal recessive inheritance	HP:0000007
208	AKT2	Decreased waist to hip ratio	HP:0031820
208	AKT2	Neonatal hypoglycemia	HP:0001998
208	AKT2	Polycystic ovaries	HP:0000147
208	AKT2	Insulin resistance	HP:0000855
208	AKT2	Abnormal circulating insulin level	HP:0040215
208	AKT2	Type II diabetes mellitus	HP:0005978
208	AKT2	Decreased serum leptin	HP:0003292
208	AKT2	Enlarged tonsils	HP:0030812
208	AKT2	Decreased adiponectin level	HP:0030685
208	AKT2	Increased intraabdominal fat	HP:0008993
208	AKT2	Seizures	HP:0001250
208	AKT2	Truncal obesity	HP:0001956
208	AKT2	Lipodystrophy	HP:0009125
208	AKT2	Nonketotic hypoglycemia	HP:0001958
208	AKT2	Increased hepatic glycogen content	HP:0006568
208	AKT2	Hypertriglyceridemia	HP:0002155
208	AKT2	Oligomenorrhea	HP:0000876
208	AKT2	Hypoglycemic coma	HP:0001325
208	AKT2	Large for gestational age	HP:0001520
208	AKT2	Hepatic steatosis	HP:0001397
208	AKT2	Hemihypertrophy	HP:0001528
208	AKT2	Acanthosis nigricans	HP:0000956
208	AKT2	Hypoglycemic seizures	HP:0002173
208	AKT2	Insulin-resistant diabetes mellitus	HP:0000831
210	ALAD	Seizures	HP:0001250
210	ALAD	Constipation	HP:0002019
210	ALAD	Hemiparesis	HP:0001269
210	ALAD	Psychosis	HP:0000709
210	ALAD	Polyneuropathy	HP:0001271
210	ALAD	Motor axonal neuropathy	HP:0007002
210	ALAD	Sensory neuropathy	HP:0000763
210	ALAD	Abdominal pain	HP:0002027
210	ALAD	Respiratory insufficiency	HP:0002093
210	ALAD	Diarrhea	HP:0002014
212	ALAS2	Glucose intolerance	HP:0001952
212	ALAS2	Cutaneous photosensitivity	HP:0000992
212	ALAS2	Iron deficiency anemia	HP:0001891
212	ALAS2	Sideroblastic anemia	HP:0001924
212	ALAS2	Childhood onset	HP:0011463
212	ALAS2	Hypochromic microcytic anemia	HP:0004840
212	ALAS2	X-linked recessive inheritance	HP:0001419
212	ALAS2	Muscle weakness	HP:0001324
212	ALAS2	Dyspnea	HP:0002094
212	ALAS2	Anemia	HP:0001903
212	ALAS2	X-linked dominant inheritance	HP:0001423
212	ALAS2	Splenomegaly	HP:0001744
212	ALAS2	Pallor	HP:0000980
212	ALAS2	Macrocytic anemia	HP:0001972
212	ALAS2	Variable expressivity	HP:0003828
212	ALAS2	Abnormality of iron homeostasis	HP:0011031
212	ALAS2	Hyperpigmentation of the skin	HP:0000953
212	ALAS2	Cholelithiasis	HP:0001081
212	ALAS2	Fatigue	HP:0012378
212	ALAS2	Increased erythrocyte protoporphyrin concentration	HP:0012187
212	ALAS2	Elevated hepatic transaminase	HP:0002910
213	ALB	Hypoalbuminemia	HP:0003073
213	ALB	Hyperlipidemia	HP:0003077
213	ALB	Lipodystrophy	HP:0009125
213	ALB	Autosomal recessive inheritance	HP:0000007
213	ALB	Hypotension	HP:0002615
213	ALB	Fatigue	HP:0012378
213	ALB	Osteoporosis	HP:0000939
215	ABCD1	Bulbar palsy	HP:0001283
215	ABCD1	Loss of speech	HP:0002371
215	ABCD1	Neurodegeneration	HP:0002180
215	ABCD1	Abnormality of the cerebral white matter	HP:0002500
215	ABCD1	Psychosis	HP:0000709
215	ABCD1	Slurred speech	HP:0001350
215	ABCD1	Incoordination	HP:0002311
215	ABCD1	Hypogonadism	HP:0000135
215	ABCD1	X-linked inheritance	HP:0001417
215	ABCD1	X-linked recessive inheritance	HP:0001419
215	ABCD1	Primary adrenal insufficiency	HP:0008207
215	ABCD1	Paraparesis	HP:0002385
215	ABCD1	Urinary incontinence	HP:0000020
215	ABCD1	Dementia	HP:0000726
215	ABCD1	Limb ataxia	HP:0002070
215	ABCD1	Urinary bladder sphincter dysfunction	HP:0002839
215	ABCD1	Progressive	HP:0003676
215	ABCD1	Abnormality of the skeletal system	HP:0000924
215	ABCD1	Truncal ataxia	HP:0002078
215	ABCD1	Seizures	HP:0001250
215	ABCD1	Impotence	HP:0000802
215	ABCD1	Attention deficit hyperactivity disorder	HP:0007018
215	ABCD1	Blindness	HP:0000618
215	ABCD1	Spastic paraplegia	HP:0001258
215	ABCD1	Hearing impairment	HP:0000365
215	ABCD1	Bowel incontinence	HP:0002607
215	ABCD1	Polyneuropathy	HP:0001271
215	ABCD1	Hyperpigmentation of the skin	HP:0000953
215	ABCD1	Visual loss	HP:0000572
215	ABCD1	Elevated circulating long chain fatty acid concentration	HP:0003455
114902	C1QTNF5	Retinal degeneration	HP:0000546
114902	C1QTNF5	Adult-onset night blindness	HP:0007830
114902	C1QTNF5	Autosomal dominant inheritance	HP:0000006
114902	C1QTNF5	Retinopathy	HP:0000488
114902	C1QTNF5	Blindness	HP:0000618
114902	C1QTNF5	Sub-RPE deposits	HP:0031531
114902	C1QTNF5	Visual loss	HP:0000572
114902	C1QTNF5	Rod-cone dystrophy	HP:0000510
114902	C1QTNF5	Scotoma	HP:0000575
57560	IFT80	Macrocephaly	HP:0000256
57560	IFT80	Omphalocele	HP:0001539
57560	IFT80	Brachydactyly	HP:0001156
57560	IFT80	Abnormality of the ribs	HP:0000772
57560	IFT80	Short ribs	HP:0000773
57560	IFT80	Narrow chest	HP:0000774
57560	IFT80	Cataract	HP:0000518
57560	IFT80	Autosomal recessive inheritance	HP:0000007
57560	IFT80	Postaxial hand polydactyly	HP:0001162
57560	IFT80	Urethrovaginal fistula	HP:0008716
57560	IFT80	Broad palm	HP:0001169
57560	IFT80	Abnormal pelvis bone ossification	HP:0009106
57560	IFT80	Abnormality of retinal pigmentation	HP:0007703
57560	IFT80	Dandy-Walker malformation	HP:0001305
57560	IFT80	Preaxial hand polydactyly	HP:0001177
57560	IFT80	Cryptorchidism	HP:0000028
57560	IFT80	Epicanthus	HP:0000286
57560	IFT80	Depressed nasal bridge	HP:0005280
57560	IFT80	Hypoplasia of penis	HP:0008736
57560	IFT80	Postaxial foot polydactyly	HP:0001830
57560	IFT80	Micromelia	HP:0002983
57560	IFT80	Feeding difficulties in infancy	HP:0008872
57560	IFT80	Disproportionate short-limb short stature	HP:0008873
57560	IFT80	Pulmonary hypoplasia	HP:0002089
57560	IFT80	Cerebellar hypoplasia	HP:0001321
57560	IFT80	Respiratory insufficiency	HP:0002093
57560	IFT80	Ectopic anus	HP:0004397
57560	IFT80	Aplasia/Hypoplasia of the lungs	HP:0006703
57560	IFT80	Abnormality of the metaphysis	HP:0000944
57560	IFT80	Uterus didelphys	HP:0003762
57560	IFT80	Congenital hepatic fibrosis	HP:0002612
57560	IFT80	Short palm	HP:0004279
57560	IFT80	Bifid tongue	HP:0010297
57560	IFT80	Wide nose	HP:0000445
57560	IFT80	Ambiguous genitalia	HP:0000062
57560	IFT80	Short metacarpal	HP:0010049
57560	IFT80	Short thorax	HP:0010306
57560	IFT80	Bifid epiglottis	HP:0010564
57560	IFT80	Abdominal distention	HP:0003270
57560	IFT80	Rhizomelia	HP:0008905
57560	IFT80	Cleft upper lip	HP:0000204
57560	IFT80	Mesomelia	HP:0003027
57560	IFT80	Renal insufficiency	HP:0000083
57560	IFT80	Cone-shaped epiphysis	HP:0010579
57560	IFT80	Lethal skeletal dysplasia	HP:0005716
57560	IFT80	Abnormality of pelvic girdle bone morphology	HP:0002644
57560	IFT80	Facial cleft	HP:0002006
57560	IFT80	Frontal bossing	HP:0002007
57560	IFT80	Long philtrum	HP:0000343
57560	IFT80	Abnormality of cardiovascular system morphology	HP:0030680
57560	IFT80	Renal hypoplasia	HP:0000089
57560	IFT80	Nephronophthisis	HP:0000090
57560	IFT80	Micrognathia	HP:0000347
57560	IFT80	Skeletal dysplasia	HP:0002652
57560	IFT80	Short stature	HP:0004322
57560	IFT80	Anal atresia	HP:0002023
57560	IFT80	Toe syndactyly	HP:0001770
57560	IFT80	Renal cyst	HP:0000107
57560	IFT80	Short foot	HP:0001773
57560	IFT80	Esophageal atresia	HP:0002032
57560	IFT80	Abnormality of the liver	HP:0001392
57560	IFT80	Nephropathy	HP:0000112
57560	IFT80	Absent or minimally ossified vertebral bodies	HP:0004599
57560	IFT80	Abnormality of the clavicle	HP:0000889
57560	IFT80	Agenesis of corpus callosum	HP:0001274
57560	IFT80	Hydrops fetalis	HP:0001789
57560	IFT80	Hydronephrosis	HP:0000126
57560	IFT80	Abnormality of the sternum	HP:0000766
217	ALDH2	Autosomal dominant inheritance	HP:0000006
217	ALDH2	Facial flushing after alcohol intake	HP:0001033
217	ALDH2	Reduced acetaldehyde dehydrogenase activity	HP:0003533
57562	CEP126	EMG abnormality	HP:0003457
57562	CEP126	Tremor	HP:0001337
57562	CEP126	Abnormality of the immune system	HP:0002715
57562	CEP126	Fasciculations	HP:0002380
57562	CEP126	Muscle weakness	HP:0001324
57562	CEP126	Distal upper limb amyotrophy	HP:0007149
57562	CEP126	Degeneration of anterior horn cells	HP:0002398
57562	CEP126	Abnormality of peripheral nerve conduction	HP:0003134
220	ALDH1A3	Optic nerve hypoplasia	HP:0000609
220	ALDH1A3	Autosomal recessive inheritance	HP:0000007
220	ALDH1A3	Microphthalmia	HP:0000568
220	ALDH1A3	Retinal detachment	HP:0000541
220	ALDH1A3	Coloboma	HP:0000589
220	ALDH1A3	Entropion	HP:0000621
224	ALDH3A2	Ichthyosis	HP:0008064
224	ALDH3A2	Urticaria	HP:0001025
224	ALDH3A2	Hyperkeratosis	HP:0000962
224	ALDH3A2	Autosomal recessive inheritance	HP:0000007
224	ALDH3A2	CNS demyelination	HP:0007305
224	ALDH3A2	Generalized hyperpigmentation	HP:0007440
224	ALDH3A2	Corneal erosion	HP:0200020
224	ALDH3A2	Abnormality of retinal pigmentation	HP:0007703
224	ALDH3A2	Abnormal pyramidal sign	HP:0007256
224	ALDH3A2	Hypoplasia of dental enamel	HP:0006297
224	ALDH3A2	Scoliosis	HP:0002650
224	ALDH3A2	Skeletal dysplasia	HP:0002652
224	ALDH3A2	Erythema	HP:0010783
224	ALDH3A2	Macular degeneration	HP:0000608
224	ALDH3A2	Myopia	HP:0000545
224	ALDH3A2	Intellectual disability	HP:0001249
224	ALDH3A2	Seizures	HP:0001250
224	ALDH3A2	Short stature	HP:0004322
224	ALDH3A2	Muscular hypotonia	HP:0001252
224	ALDH3A2	Photophobia	HP:0000613
224	ALDH3A2	Retinopathy	HP:0000488
224	ALDH3A2	Spasticity	HP:0001257
224	ALDH3A2	Abnormality of dental enamel	HP:0000682
224	ALDH3A2	Retinal pigment epithelial atrophy	HP:0007722
224	ALDH3A2	Joint stiffness	HP:0001387
224	ALDH3A2	Dysarthria	HP:0001260
224	ALDH3A2	Opacification of the corneal epithelium	HP:0007727
224	ALDH3A2	Spastic diplegia	HP:0001264
224	ALDH3A2	Inflammatory abnormality of the eye	HP:0100533
224	ALDH3A2	Kyphosis	HP:0002808
224	ALDH3A2	Retinal thinning	HP:0030329
224	ALDH3A2	Microcephaly	HP:0000252
224	ALDH3A2	Dry skin	HP:0000958
224	ALDH3A2	Thoracic kyphosis	HP:0002942
57570	TRMT5	Narrow mouth	HP:0000160
57570	TRMT5	Delayed myelination	HP:0012448
57570	TRMT5	Poor speech	HP:0002465
57570	TRMT5	Hyperreflexia	HP:0001347
57570	TRMT5	Failure to thrive	HP:0001508
57570	TRMT5	Triangular face	HP:0000325
57570	TRMT5	Increased serum lactate	HP:0002151
57570	TRMT5	Autosomal recessive inheritance	HP:0000007
57570	TRMT5	Malabsorption	HP:0002024
57570	TRMT5	Spasticity	HP:0001257
57570	TRMT5	Generalized hypotonia	HP:0001290
57570	TRMT5	Muscle weakness	HP:0001324
57570	TRMT5	Global developmental delay	HP:0001263
57570	TRMT5	Blue sclerae	HP:0000592
57570	TRMT5	Hyporeflexia	HP:0001265
57570	TRMT5	Abnormal activity of mitochondrial respiratory chain	HP:0011922
57570	TRMT5	Cirrhosis	HP:0001394
57570	TRMT5	Exercise intolerance	HP:0003546
57570	TRMT5	Exertional dyspnea	HP:0002875
57570	TRMT5	Brain atrophy	HP:0012444
57570	TRMT5	Babinski sign	HP:0003487
226	ALDOA	Intellectual disability	HP:0001249
226	ALDOA	Short stature	HP:0004322
226	ALDOA	Normochromic anemia	HP:0001895
226	ALDOA	Autosomal recessive inheritance	HP:0000007
226	ALDOA	Normocytic anemia	HP:0001897
226	ALDOA	Nonspherocytic hemolytic anemia	HP:0001930
226	ALDOA	Splenomegaly	HP:0001744
226	ALDOA	Low posterior hairline	HP:0002162
226	ALDOA	Short neck	HP:0000470
226	ALDOA	Delayed puberty	HP:0000823
226	ALDOA	Jaundice	HP:0000952
226	ALDOA	Cholelithiasis	HP:0001081
226	ALDOA	Cholecystitis	HP:0001082
226	ALDOA	Ptosis	HP:0000508
226	ALDOA	Epicanthus	HP:0000286
226	ALDOA	Myopathy	HP:0003198
8419	BFSP2	Myopia	HP:0000545
8419	BFSP2	Autosomal dominant inheritance	HP:0000006
8419	BFSP2	Developmental cataract	HP:0000519
8419	BFSP2	Progressive cataract	HP:0007834
57572	DOCK6	Macrocephaly	HP:0000256
57572	DOCK6	Small nail	HP:0001792
57572	DOCK6	Aplastic/hypoplastic toenail	HP:0010624
57572	DOCK6	Portal hypertension	HP:0001409
57572	DOCK6	Brachydactyly	HP:0001156
57572	DOCK6	Ascites	HP:0001541
57572	DOCK6	Cataract	HP:0000518
57572	DOCK6	Sparse hair	HP:0008070
57572	DOCK6	Developmental cataract	HP:0000519
57572	DOCK6	Autosomal recessive inheritance	HP:0000007
57572	DOCK6	Optic atrophy	HP:0000648
57572	DOCK6	Absent toe	HP:0010760
57572	DOCK6	Generalized hypotonia	HP:0001290
57572	DOCK6	Cerebral atrophy	HP:0002059
57572	DOCK6	Abnormality of the metacarpal bones	HP:0001163
57572	DOCK6	Psychomotor retardation	HP:0025356
57572	DOCK6	Hypoplastic fingernail	HP:0001804
57572	DOCK6	Split hand	HP:0001171
57572	DOCK6	Absent fingernail	HP:0001817
57572	DOCK6	Oligohydramnios	HP:0001562
57572	DOCK6	Short distal phalanx of finger	HP:0009882
57572	DOCK6	Protruding ear	HP:0000411
57572	DOCK6	Bulbous nose	HP:0000414
57572	DOCK6	Depressed nasal bridge	HP:0005280
57572	DOCK6	Aplasia cutis congenita	HP:0001057
57572	DOCK6	Encephalocele	HP:0002084
57572	DOCK6	Low anterior hairline	HP:0000294
57572	DOCK6	Retrocerebellar cyst	HP:0006951
57572	DOCK6	Cerebellar hypoplasia	HP:0001321
57572	DOCK6	Pulmonary arterial hypertension	HP:0002092
57572	DOCK6	EEG abnormality	HP:0002353
57572	DOCK6	Congenital hepatic fibrosis	HP:0002612
57572	DOCK6	Microphthalmia	HP:0000568
57572	DOCK6	Single transverse palmar crease	HP:0000954
57572	DOCK6	Periventricular leukomalacia	HP:0006970
57572	DOCK6	Arteriovenous malformation	HP:0100026
57572	DOCK6	Hypertelorism	HP:0000316
57572	DOCK6	Alopecia	HP:0001596
57572	DOCK6	Gastrointestinal hemorrhage	HP:0002239
57572	DOCK6	Cutis marmorata	HP:0000965
57572	DOCK6	Pulmonary artery atresia	HP:0004935
57572	DOCK6	Polymicrogyria	HP:0002126
57572	DOCK6	Thrombocytopenia	HP:0001873
57572	DOCK6	Absent hand	HP:0004050
57572	DOCK6	Calvarial skull defect	HP:0001362
57572	DOCK6	Porencephalic cyst	HP:0002132
57572	DOCK6	Finger syndactyly	HP:0006101
57572	DOCK6	Premature birth	HP:0001622
57572	DOCK6	Leukopenia	HP:0001882
57572	DOCK6	Micrognathia	HP:0000347
57572	DOCK6	Talipes	HP:0001883
57572	DOCK6	Narrow palpebral fissure	HP:0045025
57572	DOCK6	Intellectual disability	HP:0001249
57572	DOCK6	Seizures	HP:0001250
57572	DOCK6	Tetralogy of Fallot	HP:0001636
57572	DOCK6	Failure to thrive	HP:0001508
57572	DOCK6	Strabismus	HP:0000486
57572	DOCK6	Abnormal pulmonary valve morphology	HP:0001641
57572	DOCK6	Hydrocephalus	HP:0000238
57572	DOCK6	Global developmental delay	HP:0001263
57572	DOCK6	Low-set ears	HP:0000369
57572	DOCK6	Cirrhosis	HP:0001394
57572	DOCK6	Hemiparesis	HP:0001269
57572	DOCK6	Esophageal varix	HP:0002040
57572	DOCK6	Microcephaly	HP:0000252
57572	DOCK6	Hypertonia	HP:0001276
229	ALDOB	Hepatomegaly	HP:0002240
229	ALDOB	Proximal renal tubular acidosis	HP:0002049
229	ALDOB	Glycosuria	HP:0003076
229	ALDOB	Autosomal recessive inheritance	HP:0000007
229	ALDOB	Hyperuricosuria	HP:0003149
229	ALDOB	Transient aminoaciduria	HP:0008273
229	ALDOB	Fructose intolerance	HP:0005973
229	ALDOB	Metabolic acidosis	HP:0001942
229	ALDOB	Hypoglycemia	HP:0001943
229	ALDOB	Hyperbilirubinemia	HP:0002904
229	ALDOB	Vomiting	HP:0002013
229	ALDOB	Elevated hepatic transaminase	HP:0002910
229	ALDOB	Intellectual disability	HP:0001249
229	ALDOB	Nausea	HP:0002018
229	ALDOB	Seizures	HP:0001250
229	ALDOB	Hypophosphatemia	HP:0002148
229	ALDOB	Failure to thrive	HP:0001508
229	ALDOB	Hyperuricemia	HP:0002149
229	ALDOB	Hyperphosphaturia	HP:0003109
229	ALDOB	Lethargy	HP:0001254
229	ALDOB	Coma	HP:0001259
229	ALDOB	Abdominal pain	HP:0002027
229	ALDOB	Malnutrition	HP:0004395
229	ALDOB	Cirrhosis	HP:0001394
229	ALDOB	Proximal tubulopathy	HP:0000114
229	ALDOB	Hepatic steatosis	HP:0001397
229	ALDOB	Lactic acidosis	HP:0003128
229	ALDOB	Jaundice	HP:0000952
229	ALDOB	Bicarbonaturia	HP:0003646
229	ALDOB	Gastrointestinal hemorrhage	HP:0002239
8425	LTBP4	Laryngomalacia	HP:0001601
8425	LTBP4	Umbilical hernia	HP:0001537
8425	LTBP4	Skeletal muscle atrophy	HP:0003202
8425	LTBP4	Autosomal recessive inheritance	HP:0000007
8425	LTBP4	Generalized hypotonia	HP:0001290
8425	LTBP4	Cutis laxa	HP:0000973
8425	LTBP4	Bladder diverticulum	HP:0000015
8425	LTBP4	Malar flattening	HP:0000272
8425	LTBP4	Waddling gait	HP:0002515
8425	LTBP4	Sloping forehead	HP:0000340
8425	LTBP4	Calf muscle hypertrophy	HP:0008981
8425	LTBP4	Retrognathia	HP:0000278
8425	LTBP4	Inguinal hernia	HP:0000023
8425	LTBP4	Long philtrum	HP:0000343
8425	LTBP4	Midface retrusion	HP:0011800
8425	LTBP4	Scoliosis	HP:0002650
8425	LTBP4	Tracheomalacia	HP:0002779
8425	LTBP4	Micrognathia	HP:0000347
8425	LTBP4	Flexion contracture	HP:0001371
8425	LTBP4	Bronchomalacia	HP:0002780
8425	LTBP4	Gastroesophageal reflux	HP:0002020
8425	LTBP4	Elevated serum creatine kinase	HP:0003236
8425	LTBP4	Pyloric stenosis	HP:0002021
8425	LTBP4	Cardiomyopathy	HP:0001638
8425	LTBP4	Pulmonary hypoplasia	HP:0002089
8425	LTBP4	Joint laxity	HP:0001388
8425	LTBP4	Respiratory insufficiency	HP:0002093
8425	LTBP4	Delayed speech and language development	HP:0000750
8425	LTBP4	Wide nasal bridge	HP:0000431
8425	LTBP4	Global developmental delay	HP:0001263
8425	LTBP4	Specific learning disability	HP:0001328
8425	LTBP4	Emphysema	HP:0002097
8425	LTBP4	Rectal prolapse	HP:0002035
8425	LTBP4	Proximal muscle weakness	HP:0003701
8425	LTBP4	Motor delay	HP:0001270
8425	LTBP4	Patent foramen ovale	HP:0001655
8425	LTBP4	Dilatation	HP:0002617
8425	LTBP4	Periorbital edema	HP:0100539
8425	LTBP4	Progressive muscle weakness	HP:0003323
8425	LTBP4	Sandal gap	HP:0001852
8425	LTBP4	Hypertelorism	HP:0000316
8425	LTBP4	Hydronephrosis	HP:0000126
8425	LTBP4	Cognitive impairment	HP:0100543
8425	LTBP4	Pulmonary artery stenosis	HP:0004415
57582	KCNT1	Delayed myelination	HP:0012448
57582	KCNT1	Intellectual disability	HP:0001249
57582	KCNT1	Neuronal loss in central nervous system	HP:0002529
57582	KCNT1	Behavioral abnormality	HP:0000708
57582	KCNT1	Psychosis	HP:0000709
57582	KCNT1	Epileptic encephalopathy	HP:0200134
57582	KCNT1	Autosomal dominant inheritance	HP:0000006
57582	KCNT1	Cerebral cortical atrophy	HP:0002120
57582	KCNT1	Developmental regression	HP:0002376
57582	KCNT1	Spasticity	HP:0001257
57582	KCNT1	Generalized hypotonia	HP:0001290
57582	KCNT1	Personality disorder	HP:0012075
57582	KCNT1	Depressivity	HP:0000716
57582	KCNT1	Tetraplegia	HP:0002445
57582	KCNT1	Aggressive behavior	HP:0000718
57582	KCNT1	Poor eye contact	HP:0000817
57582	KCNT1	Status epilepticus	HP:0002133
57582	KCNT1	Clonus	HP:0002169
57582	KCNT1	Gliosis	HP:0002171
57582	KCNT1	Microcephaly	HP:0000252
57582	KCNT1	Progressive	HP:0003676
57582	KCNT1	Cognitive impairment	HP:0100543
57582	KCNT1	Focal-onset seizure	HP:0007359
57582	KCNT1	Hypoplasia of the corpus callosum	HP:0002079
221421	RSPH9	Nonmotile sperm	HP:0012208
221421	RSPH9	Chronic rhinitis	HP:0002257
221421	RSPH9	Short stature	HP:0004322
221421	RSPH9	Abnormal central microtubular pair morphology of respiratory motile cilia	HP:0012260
221421	RSPH9	Chronic sinusitis	HP:0011109
221421	RSPH9	Autosomal recessive inheritance	HP:0000007
221421	RSPH9	Ciliary dyskinesia	HP:0012265
221421	RSPH9	Exercise intolerance	HP:0003546
221421	RSPH9	Recurrent respiratory infections	HP:0002205
221421	RSPH9	Bronchiectasis	HP:0002110
238	ALK	Neoplasm of the nervous system	HP:0004375
238	ALK	Elevated urinary catecholamines	HP:0011976
8431	NR0B2	Decreased resting energy expenditure	HP:0012340
8431	NR0B2	Autosomal dominant inheritance	HP:0000006
8431	NR0B2	Polygenic inheritance	HP:0010982
8431	NR0B2	Autosomal recessive inheritance	HP:0000007
8431	NR0B2	Obesity	HP:0001513
8431	NR0B2	Increased waist to hip ratio	HP:0031819
114928	GPRASP2	Congenital onset	HP:0003577
114928	GPRASP2	Telecanthus	HP:0000506
114928	GPRASP2	Ptosis	HP:0000508
114928	GPRASP2	Hearing impairment	HP:0000365
114928	GPRASP2	Thick eyebrow	HP:0000574
242	ALOX12B	Ichthyosis	HP:0008064
242	ALOX12B	Small nail	HP:0001792
242	ALOX12B	Hyperkeratosis	HP:0000962
242	ALOX12B	Epidermal acanthosis	HP:0025092
242	ALOX12B	Chronic otitis media	HP:0000389
242	ALOX12B	Hypohidrosis	HP:0000966
242	ALOX12B	Lack of skin elasticity	HP:0100679
242	ALOX12B	Sparse hair	HP:0008070
242	ALOX12B	Congenital ichthyosiform erythroderma	HP:0007431
242	ALOX12B	Autosomal recessive inheritance	HP:0000007
242	ALOX12B	Sepsis	HP:0100806
242	ALOX12B	Paralysis	HP:0003470
242	ALOX12B	Ectropion	HP:0000656
242	ALOX12B	Renal insufficiency	HP:0000083
242	ALOX12B	Palmoplantar keratoderma	HP:0000982
242	ALOX12B	Corneal erosion	HP:0200020
242	ALOX12B	Gangrene	HP:0100758
242	ALOX12B	Thin nail	HP:0001816
242	ALOX12B	Dehydration	HP:0001944
242	ALOX12B	Hypergranulosis	HP:0025114
242	ALOX12B	Pruritus	HP:0000989
242	ALOX12B	Recurrent respiratory infections	HP:0002205
242	ALOX12B	Erythema	HP:0010783
242	ALOX12B	Abnormality of the helix	HP:0011039
242	ALOX12B	Limitation of joint mobility	HP:0001376
242	ALOX12B	Intellectual disability	HP:0001249
242	ALOX12B	Short stature	HP:0004322
242	ALOX12B	Failure to thrive	HP:0001508
242	ALOX12B	Abnormality of the dentition	HP:0000164
242	ALOX12B	Short finger	HP:0009381
242	ALOX12B	Growth delay	HP:0001510
242	ALOX12B	Short toe	HP:0001831
242	ALOX12B	Everted lower lip vermilion	HP:0000232
242	ALOX12B	External genital hypoplasia	HP:0003241
242	ALOX12B	Aplasia/Hypoplasia of the eyebrow	HP:0100840
242	ALOX12B	Keratitis	HP:0000491
242	ALOX12B	Hearing impairment	HP:0000365
242	ALOX12B	Hypotrichosis	HP:0001006
242	ALOX12B	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
242	ALOX12B	Erythroderma	HP:0001019
242	ALOX12B	Abnormal hair morphology	HP:0001595
242	ALOX12B	Alopecia	HP:0001596
242	ALOX12B	Abnormality of the nail	HP:0001597
242	ALOX12B	Dry skin	HP:0000958
242	ALOX12B	Cognitive impairment	HP:0100543
8438	RAD54L	Lymphoma	HP:0002665
57592	ZNF687	Left ventricular hypertrophy	HP:0001712
57592	ZNF687	Elevated alkaline phosphatase	HP:0003155
57592	ZNF687	Recurrent fractures	HP:0002757
57592	ZNF687	Osteoarthritis	HP:0002758
57592	ZNF687	Autosomal dominant inheritance	HP:0000006
57592	ZNF687	Nephrocalcinosis	HP:0000121
57592	ZNF687	Coronary artery atherosclerosis	HP:0001677
57592	ZNF687	Adult onset	HP:0003581
57592	ZNF687	Bone pain	HP:0002653
249	ALPL	Skin dimple over apex of long bone angulation	HP:0001024
249	ALPL	Hypercalcemia	HP:0003072
249	ALPL	Rachitic rosary	HP:0000897
249	ALPL	Short ribs	HP:0000773
249	ALPL	Autosomal dominant inheritance	HP:0000006
249	ALPL	Autosomal recessive inheritance	HP:0000007
249	ALPL	Proptosis	HP:0000520
249	ALPL	Generalized hypotonia	HP:0001290
249	ALPL	Widely patent fontanelles and sutures	HP:0004492
249	ALPL	Dolichocephaly	HP:0000268
249	ALPL	Fever	HP:0001945
249	ALPL	Polyhydramnios	HP:0001561
249	ALPL	Recurrent respiratory infections	HP:0002205
249	ALPL	Platyspondyly	HP:0000926
249	ALPL	Carious teeth	HP:0000670
249	ALPL	Bowing of the legs	HP:0002979
249	ALPL	Elevated urine pyrophosphate	HP:0003491
249	ALPL	Abnormality of the dentition	HP:0000164
249	ALPL	Chondrocalcinosis	HP:0000934
249	ALPL	Micromelia	HP:0002983
249	ALPL	Phosphoethanolaminuria	HP:0003239
249	ALPL	Disproportionate short-limb short stature	HP:0008873
249	ALPL	Premature loss of primary teeth	HP:0006323
249	ALPL	Apnea	HP:0002104
249	ALPL	Rickets	HP:0002748
249	ALPL	Osteomalacia	HP:0002749
249	ALPL	Pathologic fracture	HP:0002756
249	ALPL	Recurrent fractures	HP:0002757
249	ALPL	Abnormality of the voice	HP:0001608
249	ALPL	Metaphyseal cupping	HP:0003021
249	ALPL	Blue sclerae	HP:0000592
249	ALPL	Low alkaline phosphatase	HP:0003282
249	ALPL	Craniosynostosis	HP:0001363
249	ALPL	Waddling gait	HP:0002515
249	ALPL	Premature loss of permanent teeth	HP:0006357
249	ALPL	Frontal bossing	HP:0002007
249	ALPL	Elevated plasma pyrophosphate	HP:0011864
249	ALPL	Vomiting	HP:0002013
249	ALPL	Arthropathy	HP:0003040
249	ALPL	Abnormality of the foot	HP:0001760
249	ALPL	Irritability	HP:0000737
249	ALPL	Seizures	HP:0001250
249	ALPL	Decreased calvarial ossification	HP:0005474
249	ALPL	Short stature	HP:0004322
249	ALPL	Increased susceptibility to fractures	HP:0002659
249	ALPL	Constipation	HP:0002019
249	ALPL	Muscular hypotonia	HP:0001252
249	ALPL	Failure to thrive	HP:0001508
249	ALPL	Hypercalciuria	HP:0002150
249	ALPL	Vertebral clefting	HP:0008428
249	ALPL	Anemia	HP:0001903
249	ALPL	Short lower limbs	HP:0006385
249	ALPL	Death in infancy	HP:0001522
249	ALPL	Stillbirth	HP:0003826
249	ALPL	Anorexia	HP:0002039
249	ALPL	Nephrocalcinosis	HP:0000121
249	ALPL	Intracranial hemorrhage	HP:0002170
249	ALPL	Unossified vertebral bodies	HP:0004606
249	ALPL	Myopathy	HP:0003198
8443	GNPAT	Short humerus	HP:0005792
8443	GNPAT	Depressed nasal bridge	HP:0005280
8443	GNPAT	Intellectual disability	HP:0001249
8443	GNPAT	Muscular hypotonia	HP:0001252
8443	GNPAT	Failure to thrive	HP:0001508
8443	GNPAT	Irregular vertebral endplates	HP:0003301
8443	GNPAT	Cataract	HP:0000518
8443	GNPAT	Stippled calcification proximal humeral epiphyses	HP:0008838
8443	GNPAT	Autosomal recessive inheritance	HP:0000007
8443	GNPAT	Rhizomelia	HP:0008905
8443	GNPAT	Osteopenia	HP:0000938
8443	GNPAT	Generalized hypotonia	HP:0001290
8443	GNPAT	Anteverted nares	HP:0000463
8443	GNPAT	Large fontanelles	HP:0000239
8443	GNPAT	Wide nasal bridge	HP:0000431
8443	GNPAT	Calcific stippling	HP:0002832
8443	GNPAT	Abnormality of pelvic girdle bone morphology	HP:0002644
8443	GNPAT	Scoliosis	HP:0002650
8443	GNPAT	High palate	HP:0000218
8443	GNPAT	Micrognathia	HP:0000347
8443	GNPAT	Flexion contracture	HP:0001371
8443	GNPAT	Microcephaly	HP:0000252
8443	GNPAT	High forehead	HP:0000348
57599	WDR48	Spastic gait	HP:0002064
57599	WDR48	Difficulty walking	HP:0002355
57599	WDR48	Impaired vibration sensation in the lower limbs	HP:0002166
57599	WDR48	Intellectual disability, mild	HP:0001256
57599	WDR48	Spastic paraplegia	HP:0001258
57599	WDR48	Motor axonal neuropathy	HP:0007002
57599	WDR48	Limb hypertonia	HP:0002509
57599	WDR48	Nystagmus	HP:0000639
257	ALX3	Preauricular skin tag	HP:0000384
257	ALX3	Joint contracture of the hand	HP:0009473
257	ALX3	Clinodactyly	HP:0030084
257	ALX3	Brachydactyly	HP:0001156
257	ALX3	Cataract	HP:0000518
257	ALX3	Autosomal recessive inheritance	HP:0000007
257	ALX3	Postaxial hand polydactyly	HP:0001162
257	ALX3	Pectoral muscle hypoplasia/aplasia	HP:0005258
257	ALX3	Median cleft palate	HP:0009099
257	ALX3	Hypopituitarism	HP:0040075
257	ALX3	Camptodactyly of finger	HP:0100490
257	ALX3	Congenital conductive hearing impairment	HP:0008591
257	ALX3	Midline nasal groove	HP:0004112
257	ALX3	Lipoma of corpus callosum	HP:0006931
257	ALX3	Conductive hearing impairment	HP:0000405
257	ALX3	Bifid nose	HP:0011803
257	ALX3	Epicanthus	HP:0000286
257	ALX3	Widely-spaced maxillary central incisors	HP:0001566
257	ALX3	Dermoid cyst	HP:0025247
257	ALX3	Sporadic	HP:0003745
257	ALX3	Median cleft lip	HP:0000161
257	ALX3	Basal encephalocele	HP:0011817
257	ALX3	Wide nasal bridge	HP:0000431
257	ALX3	Cleft palate	HP:0000175
257	ALX3	Hypoplastic frontal sinuses	HP:0002738
257	ALX3	Microphthalmia	HP:0000568
257	ALX3	Bifid tongue	HP:0010297
257	ALX3	Hypertelorism	HP:0000316
257	ALX3	Hypoplasia of the maxilla	HP:0000327
257	ALX3	Cranium bifidum occultum	HP:0004423
257	ALX3	Broad nasal tip	HP:0000455
257	ALX3	Bifid nasal tip	HP:0000456
257	ALX3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
257	ALX3	Coloboma	HP:0000589
257	ALX3	Short columella	HP:0002000
257	ALX3	Anterior basal encephalocele	HP:0006992
257	ALX3	Finger clinodactyly	HP:0040019
257	ALX3	Scoliosis	HP:0002650
257	ALX3	Widow's peak	HP:0000349
257	ALX3	Intellectual disability	HP:0001249
257	ALX3	Camptodactyly	HP:0012385
257	ALX3	Tetralogy of Fallot	HP:0001636
257	ALX3	Iris coloboma	HP:0000612
257	ALX3	Strabismus	HP:0000486
257	ALX3	Diabetes insipidus	HP:0000873
257	ALX3	Low-set, posteriorly rotated ears	HP:0000368
257	ALX3	Low-set ears	HP:0000369
257	ALX3	Frontal cutaneous lipoma	HP:0007541
257	ALX3	Radial deviation of finger	HP:0009466
257	ALX3	Agenesis of corpus callosum	HP:0001274
257	ALX3	Lumbar hyperlordosis	HP:0002938
257	ALX3	Ptosis	HP:0000508
258	AMBN	Amelogenesis imperfecta	HP:0000705
258	AMBN	Abnormality of dental color	HP:0011073
258	AMBN	Autosomal recessive inheritance	HP:0000007
258	AMBN	Hypoplasia of dental enamel	HP:0006297
258	AMBN	Dental enamel pits	HP:0009722
8450	CUL4B	Macrocephaly	HP:0000256
8450	CUL4B	Relative macrocephaly	HP:0004482
8450	CUL4B	Gynecomastia	HP:0000771
8450	CUL4B	Brachydactyly	HP:0001156
8450	CUL4B	Hypogonadism	HP:0000135
8450	CUL4B	Generalized hypotonia	HP:0001290
8450	CUL4B	Camptodactyly of finger	HP:0100490
8450	CUL4B	X-linked recessive inheritance	HP:0001419
8450	CUL4B	Gait ataxia	HP:0002066
8450	CUL4B	Inguinal hernia	HP:0000023
8450	CUL4B	Cubitus valgus	HP:0002967
8450	CUL4B	Simplified gyral pattern	HP:0009879
8450	CUL4B	Synophrys	HP:0000664
8450	CUL4B	Coarse facial features	HP:0000280
8450	CUL4B	Wide mouth	HP:0000154
8450	CUL4B	Cryptorchidism	HP:0000028
8450	CUL4B	Epicanthus	HP:0000286
8450	CUL4B	Decreased testicular size	HP:0008734
8450	CUL4B	Macroglossia	HP:0000158
8450	CUL4B	Bulbous nose	HP:0000414
8450	CUL4B	Hypoplasia of the corpus callosum	HP:0002079
8450	CUL4B	Hypoplasia of penis	HP:0008736
8450	CUL4B	Depressed nasal bridge	HP:0005280
8450	CUL4B	Immunodeficiency	HP:0002721
8450	CUL4B	Intellectual disability, moderate	HP:0002342
8450	CUL4B	Striae distensae	HP:0001065
8450	CUL4B	Hypospadias	HP:0000047
8450	CUL4B	Mandibular prognathia	HP:0000303
8450	CUL4B	EEG abnormality	HP:0002353
8450	CUL4B	Thick lower lip vermilion	HP:0000179
8450	CUL4B	Micropenis	HP:0000054
8450	CUL4B	Short palm	HP:0004279
8450	CUL4B	Open bite	HP:0010807
8450	CUL4B	Delayed puberty	HP:0000823
8450	CUL4B	Tremor	HP:0001337
8450	CUL4B	Sandal gap	HP:0001852
8450	CUL4B	Joint hyperflexibility	HP:0005692
8450	CUL4B	Acanthosis nigricans	HP:0000956
8450	CUL4B	Absent speech	HP:0001344
8450	CUL4B	Prominent nose	HP:0000448
8450	CUL4B	Short philtrum	HP:0000322
8450	CUL4B	Abnormality of the musculature	HP:0003011
8450	CUL4B	Blepharophimosis	HP:0000581
8450	CUL4B	Biparietal narrowing	HP:0004422
8450	CUL4B	Cerebellar vermis atrophy	HP:0006855
8450	CUL4B	Abdominal obesity	HP:0012743
8450	CUL4B	Ventriculomegaly	HP:0002119
8450	CUL4B	Aggressive behavior	HP:0000718
8450	CUL4B	Polymicrogyria	HP:0002126
8450	CUL4B	Hyperhidrosis	HP:0000975
8450	CUL4B	Mood swings	HP:0000720
8450	CUL4B	Down-sloping shoulders	HP:0200021
8450	CUL4B	Short neck	HP:0000470
8450	CUL4B	Broad-based gait	HP:0002136
8450	CUL4B	Scoliosis	HP:0002650
8450	CUL4B	High palate	HP:0000218
8450	CUL4B	High forehead	HP:0000348
8450	CUL4B	Abnormal hair pattern	HP:0010720
8450	CUL4B	Pes cavus	HP:0001761
8450	CUL4B	Intellectual disability	HP:0001249
8450	CUL4B	Seizures	HP:0001250
8450	CUL4B	Short stature	HP:0004322
8450	CUL4B	Pes planus	HP:0001763
8450	CUL4B	Cachexia	HP:0004326
8450	CUL4B	Obesity	HP:0001513
8450	CUL4B	Toe syndactyly	HP:0001770
8450	CUL4B	Abnormality of earlobe	HP:0000363
8450	CUL4B	Cortical dysplasia	HP:0002539
8450	CUL4B	Joint laxity	HP:0001388
8450	CUL4B	Short foot	HP:0001773
8450	CUL4B	Downslanted palpebral fissures	HP:0000494
8450	CUL4B	Delayed speech and language development	HP:0000750
8450	CUL4B	Intellectual disability, severe	HP:0010864
8450	CUL4B	Hyperactivity	HP:0000752
8450	CUL4B	Distal lower limb amyotrophy	HP:0008944
8450	CUL4B	Clinodactyly of the 5th finger	HP:0004209
8450	CUL4B	Small hand	HP:0200055
8450	CUL4B	Motor delay	HP:0001270
8450	CUL4B	Kyphosis	HP:0002808
8450	CUL4B	Abnormality of the pinna	HP:0000377
8450	CUL4B	Microcephaly	HP:0000252
8452	CUL3	Pseudohypoaldosteronism	HP:0008242
8452	CUL3	Hyperchloremic metabolic acidosis	HP:0004918
8452	CUL3	Hypertension	HP:0000822
8452	CUL3	Metabolic acidosis	HP:0001942
8452	CUL3	Autosomal dominant inheritance	HP:0000006
8452	CUL3	Hyperkalemia	HP:0002153
8452	CUL3	Hyperchloremia	HP:0011423
8456	FOXN1	Immunodeficiency	HP:0002721
8456	FOXN1	Nail dystrophy	HP:0008404
8456	FOXN1	Decreased proportion circulating T-helper cells	HP:0008165
8456	FOXN1	Autosomal recessive inheritance	HP:0000007
8456	FOXN1	Severe T-cell immunodeficiency	HP:0005352
8456	FOXN1	Decrease in T cell count	HP:0005403
8456	FOXN1	Nail pits	HP:0001803
8456	FOXN1	Alopecia	HP:0001596
8456	FOXN1	Congenital alopecia totalis	HP:0005597
8456	FOXN1	Ridged nail	HP:0001807
265	AMELX	Amelogenesis imperfecta	HP:0000705
265	AMELX	Abnormality of metabolism/homeostasis	HP:0001939
265	AMELX	Microdontia	HP:0000691
265	AMELX	Hypoplasia of dental enamel	HP:0006297
265	AMELX	Anterior open bite	HP:0200095
265	AMELX	X-linked dominant inheritance	HP:0001423
57609	DIP2B	Intellectual disability	HP:0001249
57609	DIP2B	Hyperkeratosis	HP:0000962
57609	DIP2B	Seizures	HP:0001250
57609	DIP2B	Autosomal dominant inheritance	HP:0000006
268	AMH	Bilateral cryptorchidism	HP:0008689
268	AMH	Male infertility	HP:0003251
268	AMH	Male pseudohermaphroditism	HP:0000037
268	AMH	Abnormality of male internal genitalia	HP:0000022
268	AMH	Autosomal recessive inheritance	HP:0000007
268	AMH	Inguinal hernia	HP:0000023
268	AMH	Cryptorchidism	HP:0000028
268	AMH	Abnormal circulating hormone level	HP:0003117
269	AMHR2	Bilateral cryptorchidism	HP:0008689
269	AMHR2	Male infertility	HP:0003251
269	AMHR2	Male pseudohermaphroditism	HP:0000037
269	AMHR2	Abnormality of male internal genitalia	HP:0000022
269	AMHR2	Autosomal recessive inheritance	HP:0000007
269	AMHR2	Inguinal hernia	HP:0000023
269	AMHR2	Cryptorchidism	HP:0000028
269	AMHR2	Abnormal circulating hormone level	HP:0003117
8462	KLF11	Autosomal dominant inheritance	HP:0000006
8462	KLF11	Maturity-onset diabetes of the young	HP:0004904
8462	KLF11	Type II diabetes mellitus	HP:0005978
270	AMPD1	Rhabdomyolysis	HP:0003201
270	AMPD1	Muscle spasm	HP:0003394
270	AMPD1	Increased muscle fatiguability	HP:0003750
270	AMPD1	Autosomal recessive inheritance	HP:0000007
270	AMPD1	Generalized hypotonia	HP:0001290
270	AMPD1	Exercise-induced myalgia	HP:0003738
270	AMPD1	Limb muscle weakness	HP:0003690
270	AMPD1	Muscle weakness	HP:0001324
270	AMPD1	Exercise-induced muscle fatigue	HP:0009020
271	AMPD2	Delayed ability to walk	HP:0031936
271	AMPD2	Skeletal muscle atrophy	HP:0003202
271	AMPD2	Hyperreflexia	HP:0001347
271	AMPD2	Autosomal recessive inheritance	HP:0000007
271	AMPD2	Ventriculomegaly	HP:0002119
271	AMPD2	Cerebral cortical atrophy	HP:0002120
271	AMPD2	Optic atrophy	HP:0000648
271	AMPD2	Delayed gross motor development	HP:0002194
271	AMPD2	Peripheral axonal neuropathy	HP:0003477
271	AMPD2	Narrow forehead	HP:0000341
271	AMPD2	Abnormality of the periventricular white matter	HP:0002518
271	AMPD2	Midface retrusion	HP:0011800
271	AMPD2	Macroglossia	HP:0000158
271	AMPD2	Hypoplasia of the corpus callosum	HP:0002079
271	AMPD2	Cerebral visual impairment	HP:0100704
271	AMPD2	Short stature	HP:0004322
271	AMPD2	Seizures	HP:0001250
271	AMPD2	Decreased body weight	HP:0004325
271	AMPD2	Muscular hypotonia of the trunk	HP:0008936
271	AMPD2	Spasticity	HP:0001257
271	AMPD2	Facial hypotonia	HP:0000297
271	AMPD2	Spastic paraplegia	HP:0001258
271	AMPD2	Downslanted palpebral fissures	HP:0000494
271	AMPD2	Global developmental delay	HP:0001263
271	AMPD2	Scissor gait	HP:0012407
271	AMPD2	Clonus	HP:0002169
271	AMPD2	Abnormality of the pinna	HP:0000377
271	AMPD2	Short upper lip	HP:0000188
271	AMPD2	Progressive microcephaly	HP:0000253
272	AMPD3	Muscle spasm	HP:0003394
272	AMPD3	Exercise-induced myalgia	HP:0003738
272	AMPD3	Limb muscle weakness	HP:0003690
272	AMPD3	Exercise-induced muscle fatigue	HP:0009020
274	BIN1	EMG: myopathic abnormalities	HP:0003458
274	BIN1	Areflexia	HP:0001284
274	BIN1	Facial palsy	HP:0010628
274	BIN1	Autosomal recessive inheritance	HP:0000007
274	BIN1	Macrocephaly at birth	HP:0004488
274	BIN1	Generalized hypotonia	HP:0001290
274	BIN1	Delayed gross motor development	HP:0002194
274	BIN1	Long face	HP:0000276
274	BIN1	Urinary incontinence	HP:0000020
274	BIN1	Spontaneous abortion	HP:0005268
274	BIN1	Peripheral axonal neuropathy	HP:0003477
274	BIN1	Calf muscle hypertrophy	HP:0008981
274	BIN1	Retrognathia	HP:0000278
274	BIN1	Decreased fetal movement	HP:0001558
274	BIN1	Cavernous hemangioma	HP:0001048
274	BIN1	Polyhydramnios	HP:0001561
274	BIN1	Exercise-induced myalgia	HP:0003738
274	BIN1	Protruding ear	HP:0000411
274	BIN1	Distal muscle weakness	HP:0002460
274	BIN1	Cryptorchidism	HP:0000028
274	BIN1	Abnormality of the foot musculature	HP:0001436
274	BIN1	Narrow mouth	HP:0000160
274	BIN1	External ophthalmoplegia	HP:0000544
274	BIN1	Proximal muscle weakness in lower limbs	HP:0008994
274	BIN1	Proximal muscle weakness in upper limbs	HP:0008997
274	BIN1	Neonatal hypotonia	HP:0001319
274	BIN1	Feeding difficulties in infancy	HP:0008872
274	BIN1	Respiratory insufficiency	HP:0002093
274	BIN1	Left ventricular hypertrophy	HP:0001712
274	BIN1	Muscle fibrillation	HP:0010546
274	BIN1	Difficulty walking	HP:0002355
274	BIN1	Respiratory insufficiency due to muscle weakness	HP:0002747
274	BIN1	Gowers sign	HP:0003391
274	BIN1	Bifid uvula	HP:0000193
274	BIN1	Facial diplegia	HP:0001349
274	BIN1	Long fingers	HP:0100807
274	BIN1	Hip contracture	HP:0003273
274	BIN1	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
274	BIN1	Dysphonia	HP:0001618
274	BIN1	Waddling gait	HP:0002515
274	BIN1	Difficulty running	HP:0009046
274	BIN1	High palate	HP:0000218
274	BIN1	Ophthalmoplegia	HP:0000602
274	BIN1	Scoliosis	HP:0002650
274	BIN1	Onset	HP:0003674
274	BIN1	Areflexia of lower limbs	HP:0002522
274	BIN1	Type 1 muscle fiber predominance	HP:0003803
274	BIN1	Flexion contracture	HP:0001371
274	BIN1	Difficulty climbing stairs	HP:0003551
274	BIN1	Neonatal asphyxia	HP:0012768
274	BIN1	Pes cavus	HP:0001761
274	BIN1	Talipes equinovarus	HP:0001762
274	BIN1	Pyloric stenosis	HP:0002021
274	BIN1	Centrally nucleated skeletal muscle fibers	HP:0003687
274	BIN1	Intellectual disability, mild	HP:0001256
274	BIN1	Hyperlordosis	HP:0003307
274	BIN1	Scapular winging	HP:0003691
274	BIN1	Dysarthria	HP:0001260
274	BIN1	Delayed speech and language development	HP:0000750
274	BIN1	Large for gestational age	HP:0001520
274	BIN1	Thin ribs	HP:0000883
274	BIN1	Generalized amyotrophy	HP:0003700
274	BIN1	Mildly elevated creatine kinase	HP:0008180
274	BIN1	Proximal muscle weakness	HP:0003701
274	BIN1	Abnormal heart valve morphology	HP:0001654
274	BIN1	Motor delay	HP:0001270
274	BIN1	Kyphosis	HP:0002808
274	BIN1	Progressive muscle weakness	HP:0003323
274	BIN1	Ptosis	HP:0000508
274	BIN1	Axial muscle weakness	HP:0003327
274	BIN1	Malignant hyperthermia	HP:0002047
275	AMT	Intellectual disability	HP:0001249
275	AMT	Irritability	HP:0000737
275	AMT	Seizures	HP:0001250
275	AMT	Hyperreflexia	HP:0001347
275	AMT	Hyperglycinuria	HP:0003108
275	AMT	Muscular hypotonia	HP:0001252
275	AMT	Lethargy	HP:0001254
275	AMT	Impulsivity	HP:0100710
275	AMT	Autosomal recessive inheritance	HP:0000007
275	AMT	Restlessness	HP:0000711
275	AMT	Generalized hypotonia	HP:0001290
275	AMT	Hyperglycinemia	HP:0002154
275	AMT	Aggressive behavior	HP:0000718
275	AMT	Hyperactivity	HP:0000752
275	AMT	Hyporeflexia	HP:0001265
275	AMT	Death in infancy	HP:0001522
275	AMT	Encephalopathy	HP:0001298
275	AMT	Recurrent singultus	HP:0100247
275	AMT	Myoclonus	HP:0001336
275	AMT	Agenesis of corpus callosum	HP:0001274
8473	OGT	Intellectual disability	HP:0001249
8473	OGT	Open mouth	HP:0000194
8473	OGT	High hypermetropia	HP:0008499
8473	OGT	Amblyopia	HP:0000646
8473	OGT	Hypertelorism	HP:0000316
8473	OGT	Decreased testicular size	HP:0008734
8473	OGT	Hypospadias	HP:0000047
8473	OGT	Nystagmus	HP:0000639
8473	OGT	Global developmental delay	HP:0001263
283	ANG	Nausea and vomiting	HP:0002017
283	ANG	Skeletal muscle atrophy	HP:0003202
283	ANG	Muscle spasm	HP:0003394
283	ANG	Anxiety	HP:0000739
283	ANG	Neurodegeneration	HP:0002180
283	ANG	Autosomal dominant inheritance	HP:0000006
283	ANG	Emotional lability	HP:0000712
283	ANG	Spasticity	HP:0001257
283	ANG	Agitation	HP:0000713
283	ANG	Depressivity	HP:0000716
283	ANG	Distal amyotrophy	HP:0003693
283	ANG	Paralysis	HP:0003470
283	ANG	Dyspnea	HP:0002094
283	ANG	Laryngospasm	HP:0025425
283	ANG	Fatigable weakness of swallowing muscles	HP:0030195
283	ANG	Pain	HP:0012531
283	ANG	Fatigable weakness of respiratory muscles	HP:0030196
283	ANG	Xerostomia	HP:0000217
283	ANG	Amyotrophic lateral sclerosis	HP:0007354
283	ANG	Fatigue	HP:0012378
283	ANG	Generalized muscle weakness	HP:0003324
283	ANG	Distal muscle weakness	HP:0002460
283	ANG	Respiratory failure	HP:0002878
286	ANK1	Sacral dimple	HP:0000960
286	ANK1	Feeding difficulties	HP:0011968
286	ANK1	Reticulocytosis	HP:0001923
286	ANK1	Blepharophimosis	HP:0000581
286	ANK1	Autosomal dominant inheritance	HP:0000006
286	ANK1	Upslanted palpebral fissure	HP:0000582
286	ANK1	Anosmia	HP:0000458
286	ANK1	Splenomegaly	HP:0001744
286	ANK1	Hemolytic anemia	HP:0001878
286	ANK1	Hyperbilirubinemia	HP:0002904
286	ANK1	High palate	HP:0000218
286	ANK1	Azoospermia	HP:0000027
286	ANK1	Micrognathia	HP:0000347
286	ANK1	Spherocytosis	HP:0004444
286	ANK1	Cryptorchidism	HP:0000028
286	ANK1	Epicanthus	HP:0000286
286	ANK1	Atrial septal defect	HP:0001631
286	ANK1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
286	ANK1	Depressed nasal bridge	HP:0005280
286	ANK1	Hypoplasia of penis	HP:0008736
286	ANK1	Intellectual disability	HP:0001249
286	ANK1	Seizures	HP:0001250
286	ANK1	Mitral valve prolapse	HP:0001634
286	ANK1	Microcornea	HP:0000482
286	ANK1	Short stature	HP:0004322
286	ANK1	Talipes equinovarus	HP:0001762
286	ANK1	Iris coloboma	HP:0000612
286	ANK1	Patent ductus arteriosus	HP:0001643
286	ANK1	Hypogonadotrophic hypogonadism	HP:0000044
286	ANK1	Retinal dystrophy	HP:0000556
286	ANK1	Global developmental delay	HP:0001263
286	ANK1	Preauricular pit	HP:0004467
286	ANK1	Supernumerary ribs	HP:0005815
286	ANK1	Jaundice	HP:0000952
286	ANK1	Cholelithiasis	HP:0001081
286	ANK1	Hypertelorism	HP:0000316
286	ANK1	Microcephaly	HP:0000252
286	ANK1	External ear malformation	HP:0008572
286	ANK1	Nystagmus	HP:0000639
287	ANK2	Heterogeneous	HP:0001425
287	ANK2	Atrial fibrillation	HP:0005110
287	ANK2	Autosomal dominant inheritance	HP:0000006
287	ANK2	Sinus bradycardia	HP:0001688
287	ANK2	Prolonged QT interval	HP:0001657
287	ANK2	Sudden cardiac death	HP:0001645
287	ANK2	Syncope	HP:0001279
288	ANK3	Hyperactivity	HP:0000752
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
8481	OFD1	Macrocephaly	HP:0000256
8481	OFD1	Small nail	HP:0001792
8481	OFD1	Abnormal electroretinogram	HP:0000512
8481	OFD1	Central Y-shaped metacarpal	HP:0006145
8481	OFD1	Multicystic kidney dysplasia	HP:0000003
8481	OFD1	Odontogenic neoplasm	HP:0100612
8481	OFD1	Cataract	HP:0000518
8481	OFD1	Gait disturbance	HP:0001288
8481	OFD1	Generalized hypotonia	HP:0001290
8481	OFD1	Abnormality of the rib cage	HP:0001547
8481	OFD1	Dolichocephaly	HP:0000268
8481	OFD1	Long face	HP:0000276
8481	OFD1	Inguinal hernia	HP:0000023
8481	OFD1	Abnormality of retinal pigmentation	HP:0007703
8481	OFD1	Coarse facial features	HP:0000280
8481	OFD1	Dandy-Walker malformation	HP:0001305
8481	OFD1	Hamartoma of tongue	HP:0011802
8481	OFD1	Epicanthus	HP:0000286
8481	OFD1	Hypoplasia of penis	HP:0008736
8481	OFD1	Milia	HP:0001056
8481	OFD1	Abnormal testis morphology	HP:0000035
8481	OFD1	Foot polydactyly	HP:0001829
8481	OFD1	Abnormal cerebellum morphology	HP:0001317
8481	OFD1	Color vision defect	HP:0000551
8481	OFD1	Short toe	HP:0001831
8481	OFD1	Cerebellar vermis hypoplasia	HP:0001320
8481	OFD1	Pneumonia	HP:0002090
8481	OFD1	Keratoconus	HP:0000563
8481	OFD1	Dystonia	HP:0001332
8481	OFD1	Microretrognathia	HP:0000308
8481	OFD1	Esotropia	HP:0000565
8481	OFD1	Micropenis	HP:0000054
8481	OFD1	U-Shaped upper lip vermilion	HP:0010806
8481	OFD1	Hypertension	HP:0000822
8481	OFD1	Open bite	HP:0010807
8481	OFD1	Apnea	HP:0002104
8481	OFD1	Dilatation	HP:0002617
8481	OFD1	Tremor	HP:0001337
8481	OFD1	Bifid tongue	HP:0010297
8481	OFD1	Hypertelorism	HP:0000316
8481	OFD1	Alopecia	HP:0001596
8481	OFD1	Episodic tachypnea	HP:0002876
8481	OFD1	Increased number of teeth	HP:0011069
8481	OFD1	Hyperreflexia	HP:0001347
8481	OFD1	Facial asymmetry	HP:0000324
8481	OFD1	Biparietal narrowing	HP:0004422
8481	OFD1	Hyperinsulinemia	HP:0000842
8481	OFD1	Scaphocephaly	HP:0030799
8481	OFD1	Renal insufficiency	HP:0000083
8481	OFD1	Cone-shaped epiphysis	HP:0010579
8481	OFD1	Finger clinodactyly	HP:0040019
8481	OFD1	Porencephalic cyst	HP:0002132
8481	OFD1	Ophthalmoplegia	HP:0000602
8481	OFD1	Type II diabetes mellitus	HP:0005978
8481	OFD1	Micrognathia	HP:0000347
8481	OFD1	Abnormal heart morphology	HP:0001627
8481	OFD1	Proteinuria	HP:0000093
8481	OFD1	Congenital hip dislocation	HP:0001374
8481	OFD1	Elevated hepatic transaminase	HP:0002910
8481	OFD1	Arachnoid cyst	HP:0100702
8481	OFD1	Photophobia	HP:0000613
8481	OFD1	Posteriorly rotated ears	HP:0000358
8481	OFD1	Renal agenesis	HP:0000104
8481	OFD1	Blindness	HP:0000618
8481	OFD1	Posterior subcapsular cataract	HP:0007787
8481	OFD1	Hearing impairment	HP:0000365
8481	OFD1	Abnormal retinal vascular morphology	HP:0008046
8481	OFD1	Intellectual disability, severe	HP:0010864
8481	OFD1	Low-set, posteriorly rotated ears	HP:0000368
8481	OFD1	Low-set ears	HP:0000369
8481	OFD1	Clinodactyly of the 5th finger	HP:0004209
8481	OFD1	Polycystic kidney dysplasia	HP:0000113
8481	OFD1	Molar tooth sign on MRI	HP:0002419
8481	OFD1	Hepatic fibrosis	HP:0001395
8481	OFD1	Short nose	HP:0003196
8481	OFD1	Midline notch of upper alveolar ridge	HP:0009084
8481	OFD1	Hypoplasia of olfactory tract	HP:0007036
8481	OFD1	Alveolar ridge overgrowth	HP:0009085
8481	OFD1	Hydronephrosis	HP:0000126
8481	OFD1	Nystagmus	HP:0000639
8481	OFD1	Hepatic cysts	HP:0001407
8481	OFD1	Clinodactyly	HP:0030084
8481	OFD1	Brachydactyly	HP:0001156
8481	OFD1	Chronic otitis media	HP:0000389
8481	OFD1	Sparse hair	HP:0008070
8481	OFD1	Hypogonadism	HP:0000135
8481	OFD1	Syndactyly	HP:0001159
8481	OFD1	Optic atrophy	HP:0000648
8481	OFD1	Hand polydactyly	HP:0001161
8481	OFD1	Postaxial hand polydactyly	HP:0001162
8481	OFD1	Ovarian cyst	HP:0000138
8481	OFD1	X-linked recessive inheritance	HP:0001419
8481	OFD1	Intellectual disability, profound	HP:0002187
8481	OFD1	Hypothalamic hamartoma	HP:0002444
8481	OFD1	X-linked dominant inheritance	HP:0001423
8481	OFD1	Broad palm	HP:0001169
8481	OFD1	Hyperactive deep tendon reflexes	HP:0006801
8481	OFD1	Conductive hearing impairment	HP:0000405
8481	OFD1	Sensorineural hearing impairment	HP:0000407
8481	OFD1	Preaxial hand polydactyly	HP:0001177
8481	OFD1	Hypoplasia of dental enamel	HP:0006297
8481	OFD1	Wide mouth	HP:0000154
8481	OFD1	Hypodontia	HP:0000668
8481	OFD1	Recurrent respiratory infections	HP:0002205
8481	OFD1	Tapered finger	HP:0001182
8481	OFD1	Carious teeth	HP:0000670
8481	OFD1	Recurrent infections	HP:0002719
8481	OFD1	Coarse hair	HP:0002208
8481	OFD1	Median cleft lip	HP:0000161
8481	OFD1	Postaxial polydactyly	HP:0100259
8481	OFD1	Preaxial polydactyly	HP:0100258
8481	OFD1	Short finger	HP:0009381
8481	OFD1	Mesoaxial polydactyly	HP:0100260
8481	OFD1	Feeding difficulties in infancy	HP:0008872
8481	OFD1	Abnormality of dental enamel	HP:0000682
8481	OFD1	Lip pit	HP:0100267
8481	OFD1	Prominent nasal bridge	HP:0000426
8481	OFD1	Myelomeningocele	HP:0002475
8481	OFD1	Hypoplasia of the zygomatic bone	HP:0010669
8481	OFD1	Underdeveloped nasal alae	HP:0000430
8481	OFD1	Cleft palate	HP:0000175
8481	OFD1	Wide nasal bridge	HP:0000431
8481	OFD1	Tarsal synostosis	HP:0008368
8481	OFD1	Lobulated tongue	HP:0000180
8481	OFD1	Thick vermilion border	HP:0012471
8481	OFD1	Single transverse palmar crease	HP:0000954
8481	OFD1	Broad alveolar ridges	HP:0000187
8481	OFD1	Wide nose	HP:0000445
8481	OFD1	Dry skin	HP:0000958
8481	OFD1	Abnormal oral frenulum morphology	HP:0000190
8481	OFD1	Accessory oral frenulum	HP:0000191
8481	OFD1	Choanal atresia	HP:0000453
8481	OFD1	Tongue nodules	HP:0000199
8481	OFD1	Broad nasal tip	HP:0000455
8481	OFD1	Pancreatic cysts	HP:0001737
8481	OFD1	Exocrine pancreatic insufficiency	HP:0001738
8481	OFD1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
8481	OFD1	Polydactyly	HP:0010442
8481	OFD1	Agenesis of permanent teeth	HP:0006349
8481	OFD1	Anteverted nares	HP:0000463
8481	OFD1	Deep philtrum	HP:0002002
8481	OFD1	Wide intermamillary distance	HP:0006610
8481	OFD1	Finger syndactyly	HP:0006101
8481	OFD1	Short neck	HP:0000470
8481	OFD1	Frontal bossing	HP:0002007
8481	OFD1	High palate	HP:0000218
8481	OFD1	Thickened nuchal skin fold	HP:0000474
8481	OFD1	Thin upper lip vermilion	HP:0000219
8481	OFD1	Atypical scarring of skin	HP:0000987
8481	OFD1	Abnormality of neuronal migration	HP:0002269
8481	OFD1	Intellectual disability	HP:0001249
8481	OFD1	Talipes equinovarus	HP:0001762
8481	OFD1	Seizures	HP:0001250
8481	OFD1	Short stature	HP:0004322
8481	OFD1	Ataxia	HP:0001251
8481	OFD1	Muscular hypotonia	HP:0001252
8481	OFD1	Recurrent upper respiratory tract infections	HP:0002788
8481	OFD1	Facial capillary hemangioma	HP:0000996
8481	OFD1	Failure to thrive	HP:0001508
8481	OFD1	Growth delay	HP:0001510
8481	OFD1	Intellectual disability, progressive	HP:0006887
8481	OFD1	Enlarged cisterna magna	HP:0002280
8481	OFD1	Abnormal cortical gyration	HP:0002536
8481	OFD1	Obesity	HP:0001513
8481	OFD1	Gray matter heterotopia	HP:0002282
8481	OFD1	Downslanted palpebral fissures	HP:0000494
8481	OFD1	Hydrocephalus	HP:0000238
8481	OFD1	Global developmental delay	HP:0001263
8481	OFD1	Hirsutism	HP:0001007
8481	OFD1	Bilateral cryptorchidism	HP:0008689
8481	OFD1	Abnormality of toe	HP:0001780
8481	OFD1	Glaucoma	HP:0000501
8481	OFD1	Highly arched eyebrow	HP:0002553
8481	OFD1	Congenital onset	HP:0003577
8481	OFD1	Radial deviation of finger	HP:0009466
8481	OFD1	Agenesis of corpus callosum	HP:0001274
8481	OFD1	Telecanthus	HP:0000506
8481	OFD1	Progressive night blindness	HP:0007675
8481	OFD1	Brittle hair	HP:0002299
8481	OFD1	Microcephaly	HP:0000252
8481	OFD1	Reduced bone mineral density	HP:0004349
8481	OFD1	Rod-cone dystrophy	HP:0000510
291	SLC25A4	Ragged-red muscle fibers	HP:0003200
291	SLC25A4	Abnormal electroretinogram	HP:0000512
291	SLC25A4	Skeletal muscle atrophy	HP:0003202
291	SLC25A4	EMG: myopathic abnormalities	HP:0003458
291	SLC25A4	Focal white matter lesions	HP:0007042
291	SLC25A4	Facial palsy	HP:0010628
291	SLC25A4	Cataract	HP:0000518
291	SLC25A4	Autosomal dominant inheritance	HP:0000006
291	SLC25A4	Bipolar affective disorder	HP:0007302
291	SLC25A4	Autosomal recessive inheritance	HP:0000007
291	SLC25A4	Generalized hypotonia	HP:0001290
291	SLC25A4	Heterogeneous	HP:0001425
291	SLC25A4	Nocturia	HP:0000017
291	SLC25A4	Resting tremor	HP:0002322
291	SLC25A4	Gait ataxia	HP:0002066
291	SLC25A4	Gastroparesis	HP:0002578
291	SLC25A4	Quadriceps muscle weakness	HP:0003731
291	SLC25A4	Bradykinesia	HP:0002067
291	SLC25A4	Peripheral axonal neuropathy	HP:0003477
291	SLC25A4	Sensorineural hearing impairment	HP:0000407
291	SLC25A4	Mitochondrial myopathy	HP:0003737
291	SLC25A4	Ketosis	HP:0001946
291	SLC25A4	Migraine	HP:0002076
291	SLC25A4	External ophthalmoplegia	HP:0000544
291	SLC25A4	Myopia	HP:0000545
291	SLC25A4	Elevated serum creatine kinase	HP:0003236
291	SLC25A4	Palpitations	HP:0001962
291	SLC25A4	Osteoporosis	HP:0000939
291	SLC25A4	Muscle weakness	HP:0001324
291	SLC25A4	Respiratory insufficiency	HP:0002093
291	SLC25A4	Left ventricular hypertrophy	HP:0001712
291	SLC25A4	Diabetes mellitus	HP:0000819
291	SLC25A4	Hypothyroidism	HP:0000821
291	SLC25A4	Frequent falls	HP:0002359
291	SLC25A4	Lactic acidosis	HP:0003128
291	SLC25A4	Respiratory insufficiency due to muscle weakness	HP:0002747
291	SLC25A4	Exertional dyspnea	HP:0002875
291	SLC25A4	Easy fatigability	HP:0003388
291	SLC25A4	Cognitive impairment	HP:0100543
291	SLC25A4	Muscle spasm	HP:0003394
291	SLC25A4	Hyperthyroidism	HP:0000836
291	SLC25A4	Facial diplegia	HP:0001349
291	SLC25A4	Hypokinesia	HP:0002375
291	SLC25A4	Abnormality of the mitochondrion	HP:0012103
291	SLC25A4	Organic aciduria	HP:0001992
291	SLC25A4	Edema	HP:0000969
291	SLC25A4	Depressivity	HP:0000716
291	SLC25A4	Progressive external ophthalmoplegia	HP:0000590
291	SLC25A4	Hypomimic face	HP:0000338
291	SLC25A4	Ventricular arrhythmia	HP:0004308
291	SLC25A4	Goiter	HP:0000853
291	SLC25A4	Exercise intolerance	HP:0003546
291	SLC25A4	Fatigue	HP:0012378
291	SLC25A4	Shoulder girdle muscle weakness	HP:0003547
291	SLC25A4	Subsarcolemmal accumulations of abnormally shaped mitochondria	HP:0003548
291	SLC25A4	Progressive	HP:0003676
291	SLC25A4	Cogwheel rigidity	HP:0002396
291	SLC25A4	Slow progression	HP:0003677
291	SLC25A4	Elevated hepatic transaminase	HP:0002910
291	SLC25A4	Difficulty climbing stairs	HP:0003551
291	SLC25A4	Dysphagia	HP:0002015
291	SLC25A4	Cerebral visual impairment	HP:0100704
291	SLC25A4	Seizures	HP:0001250
291	SLC25A4	Constipation	HP:0002019
291	SLC25A4	Anxiety	HP:0000739
291	SLC25A4	Gastroesophageal reflux	HP:0002020
291	SLC25A4	Failure to thrive	HP:0001508
291	SLC25A4	Lethargy	HP:0001254
291	SLC25A4	Strabismus	HP:0000486
291	SLC25A4	Hypertrophic cardiomyopathy	HP:0001639
291	SLC25A4	Increased serum lactate	HP:0002151
291	SLC25A4	Cytochrome C oxidase-negative muscle fibers	HP:0003688
291	SLC25A4	Obesity	HP:0001513
291	SLC25A4	Multiple mitochondrial DNA deletions	HP:0003689
291	SLC25A4	Corneal dystrophy	HP:0001131
291	SLC25A4	Inability to walk	HP:0002540
291	SLC25A4	Dysarthria	HP:0001260
291	SLC25A4	Dilated cardiomyopathy	HP:0001644
291	SLC25A4	Hearing impairment	HP:0000365
291	SLC25A4	Absent Achilles reflex	HP:0003438
291	SLC25A4	Hyporeflexia	HP:0001265
291	SLC25A4	Glaucoma	HP:0000501
291	SLC25A4	Atrial fibrillation	HP:0005110
291	SLC25A4	Cerebellar atrophy	HP:0001272
291	SLC25A4	Reduced ejection fraction	HP:0012664
291	SLC25A4	Congenital onset	HP:0003577
291	SLC25A4	Generalized muscle weakness	HP:0003324
291	SLC25A4	Ptosis	HP:0000508
291	SLC25A4	Hypertonia	HP:0001276
291	SLC25A4	Adult onset	HP:0003581
291	SLC25A4	Myalgia	HP:0003326
291	SLC25A4	Myopathy	HP:0003198
291	SLC25A4	Nystagmus	HP:0000639
90411	MCFD2	Menorrhagia	HP:0000132
90411	MCFD2	Epistaxis	HP:0000421
90411	MCFD2	Reduced factor VIII activity	HP:0003125
90411	MCFD2	Autosomal recessive inheritance	HP:0000007
90411	MCFD2	Reduced coagulation factor V activity	HP:0003225
90411	MCFD2	Persistent bleeding after trauma	HP:0001934
8492	PRSS12	Intellectual disability	HP:0001249
8492	PRSS12	Hyperactive deep tendon reflexes	HP:0006801
8492	PRSS12	Strabismus	HP:0000486
8492	PRSS12	Autosomal recessive inheritance	HP:0000007
8492	PRSS12	Babinski sign	HP:0003487
8492	PRSS12	Nystagmus	HP:0000639
8493	PPM1D	Feeding difficulties	HP:0011968
8493	PPM1D	Small nail	HP:0001792
8493	PPM1D	Brachydactyly	HP:0001156
8493	PPM1D	Autosomal dominant inheritance	HP:0000006
8493	PPM1D	Generalized hypotonia	HP:0001290
8493	PPM1D	Anteverted nares	HP:0000463
8493	PPM1D	Broad forehead	HP:0000337
8493	PPM1D	Heterogeneous	HP:0001425
8493	PPM1D	Obsessive-compulsive behavior	HP:0000722
8493	PPM1D	Somatic mutation	HP:0001428
8493	PPM1D	Broad-based gait	HP:0002136
8493	PPM1D	Autistic behavior	HP:0000729
8493	PPM1D	Wide mouth	HP:0000154
8493	PPM1D	Thin upper lip vermilion	HP:0000219
8493	PPM1D	Hypermetropia	HP:0000540
8493	PPM1D	Vomiting	HP:0002013
8493	PPM1D	Intellectual disability	HP:0001249
8493	PPM1D	Short stature	HP:0004322
8493	PPM1D	Constipation	HP:0002019
8493	PPM1D	Anxiety	HP:0000739
8493	PPM1D	Gastroesophageal reflux	HP:0002020
8493	PPM1D	Strabismus	HP:0000486
8493	PPM1D	Posteriorly rotated ears	HP:0000358
8493	PPM1D	Attention deficit hyperactivity disorder	HP:0007018
8493	PPM1D	Hyperlordosis	HP:0003307
8493	PPM1D	Short foot	HP:0001773
8493	PPM1D	Delayed speech and language development	HP:0000750
8493	PPM1D	Global developmental delay	HP:0001263
8493	PPM1D	Low-set ears	HP:0000369
8493	PPM1D	Small hand	HP:0200055
8493	PPM1D	Breast carcinoma	HP:0003002
131377	KLHL40	Increased connective tissue	HP:0009025
131377	KLHL40	Skeletal muscle atrophy	HP:0003202
131377	KLHL40	Myofibrillar myopathy	HP:0003715
131377	KLHL40	Facial palsy	HP:0010628
131377	KLHL40	Facial diplegia	HP:0001349
131377	KLHL40	Fetal akinesia sequence	HP:0001989
131377	KLHL40	Abnormality of the diaphragm	HP:0000775
131377	KLHL40	Hypokinesia	HP:0002375
131377	KLHL40	Autosomal recessive inheritance	HP:0000007
131377	KLHL40	Decreased fetal movement	HP:0001558
131377	KLHL40	Premature birth	HP:0001622
131377	KLHL40	Nemaline bodies	HP:0003798
131377	KLHL40	Breech presentation	HP:0001623
131377	KLHL40	Polyhydramnios	HP:0001561
131377	KLHL40	Edema of the dorsum of hands	HP:0007514
131377	KLHL40	Ophthalmoplegia	HP:0000602
131377	KLHL40	Type 1 muscle fiber predominance	HP:0003803
131377	KLHL40	Flexion contracture	HP:0001371
131377	KLHL40	Adducted thumb	HP:0001181
131377	KLHL40	Multiple prenatal fractures	HP:0005855
131377	KLHL40	Dysphagia	HP:0002015
131377	KLHL40	Pulmonary hypoplasia	HP:0002089
131377	KLHL40	Severe muscular hypotonia	HP:0006829
131377	KLHL40	Hypospadias	HP:0000047
131377	KLHL40	Large fontanelles	HP:0000239
131377	KLHL40	Low-set ears	HP:0000369
131377	KLHL40	Thin ribs	HP:0000883
131377	KLHL40	Arthrogryposis multiplex congenita	HP:0002804
131377	KLHL40	Motor delay	HP:0001270
131377	KLHL40	Micropenis	HP:0000054
131377	KLHL40	Abnormality of the thorax	HP:0000765
131377	KLHL40	Respiratory failure	HP:0002878
131377	KLHL40	Axial muscle weakness	HP:0003327
57654	UVSSA	Cutaneous photosensitivity	HP:0000992
57654	UVSSA	Telangiectasia	HP:0001009
57654	UVSSA	Autosomal recessive inheritance	HP:0000007
57654	UVSSA	Increased cellular sensitivity to UV light	HP:0003224
57654	UVSSA	Freckling	HP:0001480
57654	UVSSA	Infantile onset	HP:0003593
57654	UVSSA	Dry skin	HP:0000958
311	ANXA11	Nausea and vomiting	HP:0002017
311	ANXA11	Skeletal muscle atrophy	HP:0003202
311	ANXA11	Muscle spasm	HP:0003394
311	ANXA11	Anxiety	HP:0000739
311	ANXA11	Neurodegeneration	HP:0002180
311	ANXA11	Emotional lability	HP:0000712
311	ANXA11	Spasticity	HP:0001257
311	ANXA11	Agitation	HP:0000713
311	ANXA11	Depressivity	HP:0000716
311	ANXA11	Paralysis	HP:0003470
311	ANXA11	Dyspnea	HP:0002094
311	ANXA11	Laryngospasm	HP:0025425
311	ANXA11	Fatigable weakness of swallowing muscles	HP:0030195
311	ANXA11	Pain	HP:0012531
311	ANXA11	Fatigable weakness of respiratory muscles	HP:0030196
311	ANXA11	Incomplete penetrance	HP:0003829
311	ANXA11	Xerostomia	HP:0000217
311	ANXA11	Amyotrophic lateral sclerosis	HP:0007354
311	ANXA11	Fatigue	HP:0012378
311	ANXA11	Generalized muscle weakness	HP:0003324
311	ANXA11	Respiratory failure	HP:0002878
8504	PEX3	Macrocephaly	HP:0000256
8504	PEX3	Multicystic kidney dysplasia	HP:0000003
8504	PEX3	Wide anterior fontanel	HP:0000260
8504	PEX3	Areflexia	HP:0001284
8504	PEX3	Cataract	HP:0000518
8504	PEX3	Autosomal recessive inheritance	HP:0000007
8504	PEX3	Generalized hypotonia	HP:0001290
8504	PEX3	Neurogenic bladder	HP:0000011
8504	PEX3	Dolichocephaly	HP:0000268
8504	PEX3	Primary adrenal insufficiency	HP:0008207
8504	PEX3	Abnormal chorioretinal morphology	HP:0000532
8504	PEX3	Corneal opacity	HP:0007957
8504	PEX3	Decreased fetal movement	HP:0001558
8504	PEX3	Abnormality of retinal pigmentation	HP:0007703
8504	PEX3	Cryptorchidism	HP:0000028
8504	PEX3	Epicanthus	HP:0000286
8504	PEX3	Reduced tendon reflexes	HP:0001315
8504	PEX3	Abnormality of epiphysis morphology	HP:0005930
8504	PEX3	Respiratory insufficiency	HP:0002093
8504	PEX3	Hypospadias	HP:0000047
8504	PEX3	EEG abnormality	HP:0002353
8504	PEX3	Hypertelorism	HP:0000316
8504	PEX3	Brushfield spots	HP:0001088
8504	PEX3	Hyperreflexia	HP:0001347
8504	PEX3	Upslanted palpebral fissure	HP:0000582
8504	PEX3	Developmental regression	HP:0002376
8504	PEX3	Elevated levels of phytanic acid	HP:0010571
8504	PEX3	Polymicrogyria	HP:0002126
8504	PEX3	Flat face	HP:0012368
8504	PEX3	Severe global developmental delay	HP:0011344
8504	PEX3	Broad forehead	HP:0000337
8504	PEX3	Premature birth	HP:0001622
8504	PEX3	Micrognathia	HP:0000347
8504	PEX3	Skeletal dysplasia	HP:0002652
8504	PEX3	High forehead	HP:0000348
8504	PEX3	Ventricular septal defect	HP:0001629
8504	PEX3	Flat occiput	HP:0005469
8504	PEX3	Cardiomyopathy	HP:0001638
8504	PEX3	Posteriorly rotated ears	HP:0000358
8504	PEX3	Constriction of peripheral visual field	HP:0001133
8504	PEX3	Low-set, posteriorly rotated ears	HP:0000368
8504	PEX3	Abnormality of the liver	HP:0001392
8504	PEX3	Low-set ears	HP:0000369
8504	PEX3	Inverted nipples	HP:0003186
8504	PEX3	Posterior embryotoxon	HP:0000627
8504	PEX3	Hepatic failure	HP:0001399
8504	PEX3	Nephrocalcinosis	HP:0000121
8504	PEX3	External ear malformation	HP:0008572
8504	PEX3	Hydronephrosis	HP:0000126
8504	PEX3	Nystagmus	HP:0000639
8504	PEX3	Ichthyosis	HP:0008064
8504	PEX3	Facial palsy	HP:0010628
8504	PEX3	Optic atrophy	HP:0000648
8504	PEX3	Abnormality of coagulation	HP:0001928
8504	PEX3	Abnormality of metabolism/homeostasis	HP:0001939
8504	PEX3	Nyctalopia	HP:0000662
8504	PEX3	Sensorineural hearing impairment	HP:0000407
8504	PEX3	Arrhythmia	HP:0011675
8504	PEX3	Abnormality of the tongue	HP:0000157
8504	PEX3	Epiphyseal stippling	HP:0010655
8504	PEX3	Depressed nasal bridge	HP:0005280
8504	PEX3	Underdeveloped supraorbital ridges	HP:0009891
8504	PEX3	Feeding difficulties in infancy	HP:0008872
8504	PEX3	Severe muscular hypotonia	HP:0006829
8504	PEX3	Abnormal palate morphology	HP:0000174
8504	PEX3	Bilateral single transverse palmar creases	HP:0007598
8504	PEX3	Wide nasal bridge	HP:0000431
8504	PEX3	Prolonged neonatal jaundice	HP:0006579
8504	PEX3	Jaundice	HP:0000952
8504	PEX3	Cognitive impairment	HP:0100543
8504	PEX3	Profound global developmental delay	HP:0012736
8504	PEX3	Hepatomegaly	HP:0002240
8504	PEX3	Feeding difficulties	HP:0011968
8504	PEX3	Prominent nose	HP:0000448
8504	PEX3	Behavioral abnormality	HP:0000708
8504	PEX3	Anteverted nares	HP:0000463
8504	PEX3	Clitoral hypertrophy	HP:0008665
8504	PEX3	Thickened nuchal skin fold	HP:0000474
8504	PEX3	High palate	HP:0000218
8504	PEX3	Abnormality of neuronal migration	HP:0002269
8504	PEX3	Seizures	HP:0001250
8504	PEX3	Short stature	HP:0004322
8504	PEX3	Ataxia	HP:0001251
8504	PEX3	Failure to thrive	HP:0001508
8504	PEX3	Muscular hypotonia	HP:0001252
8504	PEX3	Pyloric stenosis	HP:0002021
8504	PEX3	Strabismus	HP:0000486
8504	PEX3	Very long chain fatty acid accumulation	HP:0008167
8504	PEX3	Generalized neonatal hypotonia	HP:0008935
8504	PEX3	Malabsorption	HP:0002024
8504	PEX3	Spasticity	HP:0001257
8504	PEX3	Spastic paraplegia	HP:0001258
8504	PEX3	Downslanted palpebral fissures	HP:0000494
8504	PEX3	Global developmental delay	HP:0001263
8504	PEX3	Death in infancy	HP:0001522
8504	PEX3	Glaucoma	HP:0000501
8504	PEX3	Visual impairment	HP:0000505
8504	PEX3	Progressive muscle weakness	HP:0003323
8504	PEX3	Microcephaly	HP:0000252
8504	PEX3	Ptosis	HP:0000508
8504	PEX3	Rod-cone dystrophy	HP:0000510
8506	CNTNAP1	EMG abnormality	HP:0003457
8506	CNTNAP1	Skeletal muscle atrophy	HP:0003202
8506	CNTNAP1	Hyperreflexia	HP:0001347
8506	CNTNAP1	Areflexia	HP:0001284
8506	CNTNAP1	Facial diplegia	HP:0001349
8506	CNTNAP1	Fetal akinesia sequence	HP:0001989
8506	CNTNAP1	Autosomal recessive inheritance	HP:0000007
8506	CNTNAP1	Generalized hypotonia	HP:0001290
8506	CNTNAP1	Oral-pharyngeal dysphagia	HP:0200136
8506	CNTNAP1	Cerebral atrophy	HP:0002059
8506	CNTNAP1	Dolichocephaly	HP:0000268
8506	CNTNAP1	Paralysis	HP:0003470
8506	CNTNAP1	Gingival overgrowth	HP:0000212
8506	CNTNAP1	Small basal ganglia	HP:0012697
8506	CNTNAP1	Polyhydramnios	HP:0001561
8506	CNTNAP1	High palate	HP:0000218
8506	CNTNAP1	Micrognathia	HP:0000347
8506	CNTNAP1	Epicanthus	HP:0000286
8506	CNTNAP1	Babinski sign	HP:0003487
8506	CNTNAP1	Hypoplasia of the corpus callosum	HP:0002079
8506	CNTNAP1	Limitation of joint mobility	HP:0001376
8506	CNTNAP1	Seizures	HP:0001250
8506	CNTNAP1	Reduced tendon reflexes	HP:0001315
8506	CNTNAP1	Muscular hypotonia	HP:0001252
8506	CNTNAP1	Gastroesophageal reflux	HP:0002020
8506	CNTNAP1	CNS hypomyelination	HP:0003429
8506	CNTNAP1	Spasticity	HP:0001257
8506	CNTNAP1	Knee flexion contracture	HP:0006380
8506	CNTNAP1	Hearing impairment	HP:0000365
8506	CNTNAP1	Respiratory insufficiency	HP:0002093
8506	CNTNAP1	Hyporeflexia	HP:0001265
8506	CNTNAP1	Low-set ears	HP:0000369
8506	CNTNAP1	Respiratory distress	HP:0002098
8506	CNTNAP1	Dystonia	HP:0001332
8506	CNTNAP1	Arthrogryposis multiplex congenita	HP:0002804
8506	CNTNAP1	Thick vermilion border	HP:0012471
8506	CNTNAP1	Cerebellar atrophy	HP:0001272
8506	CNTNAP1	Visual impairment	HP:0000505
8506	CNTNAP1	Congenital onset	HP:0003577
8506	CNTNAP1	Ptosis	HP:0000508
8506	CNTNAP1	Microcephaly	HP:0000252
221496	LEMD2	Developmental cataract	HP:0000519
221496	LEMD2	Autosomal recessive inheritance	HP:0000007
221496	LEMD2	Juvenile cataract	HP:0001118
8514	KCNAB2	Abnormal blistering of the skin	HP:0008066
8514	KCNAB2	Brachydactyly	HP:0001156
8514	KCNAB2	Rib fusion	HP:0000902
8514	KCNAB2	Cataract	HP:0000518
8514	KCNAB2	Hypogonadism	HP:0000135
8514	KCNAB2	Abnormal cardiac septum morphology	HP:0001671
8514	KCNAB2	Optic atrophy	HP:0000648
8514	KCNAB2	Gait disturbance	HP:0001288
8514	KCNAB2	Camptodactyly of finger	HP:0100490
8514	KCNAB2	Delayed cranial suture closure	HP:0000270
8514	KCNAB2	Conductive hearing impairment	HP:0000405
8514	KCNAB2	Hemiplegia/hemiparesis	HP:0004374
8514	KCNAB2	Sensorineural hearing impairment	HP:0000407
8514	KCNAB2	Midface retrusion	HP:0011800
8514	KCNAB2	Abnormality of the anus	HP:0004378
8514	KCNAB2	Cryptorchidism	HP:0000028
8514	KCNAB2	Epicanthus	HP:0000286
8514	KCNAB2	Polyphagia	HP:0002591
8514	KCNAB2	Hypoplasia of penis	HP:0008736
8514	KCNAB2	Narrow mouth	HP:0000160
8514	KCNAB2	Depressed nasal bridge	HP:0005280
8514	KCNAB2	Poor speech	HP:0002465
8514	KCNAB2	Foot polydactyly	HP:0001829
8514	KCNAB2	Cranial nerve paralysis	HP:0006824
8514	KCNAB2	Feeding difficulties in infancy	HP:0008872
8514	KCNAB2	Wide nasal bridge	HP:0000431
8514	KCNAB2	Hypospadias	HP:0000047
8514	KCNAB2	EEG abnormality	HP:0002353
8514	KCNAB2	High hypermetropia	HP:0008499
8514	KCNAB2	Pointed chin	HP:0000307
8514	KCNAB2	Hypothyroidism	HP:0000821
8514	KCNAB2	Generalized hirsutism	HP:0002230
8514	KCNAB2	Abnormality of female external genitalia	HP:0000055
8514	KCNAB2	Macule	HP:0012733
8514	KCNAB2	Neuroblastoma	HP:0003006
8514	KCNAB2	Absent speech	HP:0001344
8514	KCNAB2	Abnormal intestine morphology	HP:0002242
8514	KCNAB2	Annular pancreas	HP:0001734
8514	KCNAB2	Ventriculomegaly	HP:0002119
8514	KCNAB2	Cerebral cortical atrophy	HP:0002120
8514	KCNAB2	Depressed nasal ridge	HP:0000457
8514	KCNAB2	Autism	HP:0000717
8514	KCNAB2	Lower limb asymmetry	HP:0100559
8514	KCNAB2	Abnormality of the spleen	HP:0001743
8514	KCNAB2	Abnormality of the neck	HP:0000464
8514	KCNAB2	Ocular albinism	HP:0001107
8514	KCNAB2	Long philtrum	HP:0000343
8514	KCNAB2	Frontal bossing	HP:0002007
8514	KCNAB2	Spinal canal stenosis	HP:0003416
8514	KCNAB2	Scoliosis	HP:0002650
8514	KCNAB2	Horizontal eyebrow	HP:0011228
8514	KCNAB2	Stereotypy	HP:0000733
8514	KCNAB2	Dysphagia	HP:0002015
8514	KCNAB2	Intellectual disability	HP:0001249
8514	KCNAB2	Seizures	HP:0001250
8514	KCNAB2	Short stature	HP:0004322
8514	KCNAB2	Constipation	HP:0002019
8514	KCNAB2	Failure to thrive	HP:0001508
8514	KCNAB2	Gastroesophageal reflux	HP:0002020
8514	KCNAB2	Tetralogy of Fallot	HP:0001636
8514	KCNAB2	Muscular hypotonia	HP:0001252
8514	KCNAB2	Pyloric stenosis	HP:0002021
8514	KCNAB2	Strabismus	HP:0000486
8514	KCNAB2	Microtia	HP:0008551
8514	KCNAB2	Hip dysplasia	HP:0001385
8514	KCNAB2	Obesity	HP:0001513
8514	KCNAB2	Deeply set eye	HP:0000490
8514	KCNAB2	Patent ductus arteriosus	HP:0001643
8514	KCNAB2	Renal cyst	HP:0000107
8514	KCNAB2	Joint stiffness	HP:0001387
8514	KCNAB2	Dilated cardiomyopathy	HP:0001644
8514	KCNAB2	Short foot	HP:0001773
8514	KCNAB2	Self-injurious behavior	HP:0100716
8514	KCNAB2	11 pairs of ribs	HP:0000878
8514	KCNAB2	Global developmental delay	HP:0001263
8514	KCNAB2	Low-set, posteriorly rotated ears	HP:0000368
8514	KCNAB2	Telangiectasia	HP:0001009
8514	KCNAB2	Clinodactyly of the 5th finger	HP:0004209
8514	KCNAB2	Hepatic steatosis	HP:0001397
8514	KCNAB2	Abnormal heart valve morphology	HP:0001654
8514	KCNAB2	Brachycephaly	HP:0000248
8514	KCNAB2	Kyphosis	HP:0002808
8514	KCNAB2	Visual impairment	HP:0000505
8514	KCNAB2	Aortic arch aneurysm	HP:0005113
8514	KCNAB2	Agenesis of corpus callosum	HP:0001274
8514	KCNAB2	Microcephaly	HP:0000252
8514	KCNAB2	Bifid ribs	HP:0000892
8514	KCNAB2	Hydronephrosis	HP:0000126
8514	KCNAB2	Myopathy	HP:0003198
8514	KCNAB2	Nystagmus	HP:0000639
324	APC	Lipoma	HP:0012032
324	APC	Abnormality of the ribs	HP:0000772
324	APC	Autosomal dominant inheritance	HP:0000006
324	APC	Cataract	HP:0000518
324	APC	Proptosis	HP:0000520
324	APC	Generalized hypotonia	HP:0001290
324	APC	Absent toenail	HP:0001802
324	APC	Carcinoma	HP:0030731
324	APC	Hip dislocation	HP:0002827
324	APC	Arthralgia	HP:0002829
324	APC	Spastic gait	HP:0002064
324	APC	Malar flattening	HP:0000272
324	APC	Long face	HP:0000276
324	APC	Abnormality of retinal pigmentation	HP:0007703
324	APC	Intestinal bleeding	HP:0002584
324	APC	Absent fingernail	HP:0001817
324	APC	Dyslexia	HP:0010522
324	APC	Ampulla of Vater carcinoma	HP:0031524
324	APC	Intellectual disability, moderate	HP:0002342
324	APC	Multiple gastric polyps	HP:0004394
324	APC	Thyroid nodule	HP:0025388
324	APC	Mandibular prognathia	HP:0000303
324	APC	Short thumb	HP:0009778
324	APC	Hypothyroidism	HP:0000821
324	APC	Abnormal dermatoglyphics	HP:0007477
324	APC	Foot oligodactyly	HP:0001849
324	APC	Hypertelorism	HP:0000316
324	APC	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
324	APC	Odontoma	HP:0011068
324	APC	Increased number of teeth	HP:0011069
324	APC	Adrenocortical adenoma	HP:0008256
324	APC	Laryngomalacia	HP:0001601
324	APC	Keloids	HP:0010562
324	APC	Small intestine carcinoid	HP:0006722
324	APC	Short philtrum	HP:0000322
324	APC	Hepatoblastoma	HP:0002884
324	APC	Medulloblastoma	HP:0002885
324	APC	Abnormality of canine	HP:0011078
324	APC	Uterine leiomyosarcoma	HP:0002891
324	APC	Intestinal polyposis	HP:0200008
324	APC	Abnormality of the kidney	HP:0000077
324	APC	Neoplasm of the pancreas	HP:0002894
324	APC	Papillary thyroid carcinoma	HP:0002895
324	APC	Transitional cell carcinoma of the bladder	HP:0006740
324	APC	Optic disc hypoplasia	HP:0007766
324	APC	Long philtrum	HP:0000343
324	APC	Adrenocortical carcinoma	HP:0006744
324	APC	Scoliosis	HP:0002650
324	APC	Posterior polar cataract	HP:0001115
324	APC	Micrognathia	HP:0000347
324	APC	High forehead	HP:0000348
324	APC	Prostate cancer	HP:0012125
324	APC	Stomach cancer	HP:0012126
324	APC	Intestinal obstruction	HP:0005214
324	APC	Limitation of joint mobility	HP:0001376
324	APC	Neoplasm of the stomach	HP:0006753
324	APC	Iron deficiency anemia	HP:0001891
324	APC	Adenomatous colonic polyposis	HP:0005227
324	APC	Epidermoid cyst	HP:0200040
324	APC	Hearing impairment	HP:0000365
324	APC	Gastrointestinal carcinoma	HP:0002672
324	APC	Low posterior hairline	HP:0002162
324	APC	Duodenal adenocarcinoma	HP:0006771
324	APC	Astrocytoma	HP:0009592
324	APC	Hepatocellular carcinoma	HP:0001402
324	APC	Fibroadenoma of the breast	HP:0010619
324	APC	Short nose	HP:0003196
324	APC	Hydronephrosis	HP:0000126
324	APC	Nystagmus	HP:0000639
324	APC	Crossed fused renal ectopia	HP:0004736
324	APC	Relative macrocephaly	HP:0004482
324	APC	Micronodular cirrhosis	HP:0001413
324	APC	Neoplasm of the skin	HP:0008069
324	APC	Obstructive lung disease	HP:0006536
324	APC	Abnormality of the metacarpal bones	HP:0001163
324	APC	Multiple unerupted teeth	HP:0006283
324	APC	Chest pain	HP:0100749
324	APC	Ectropion	HP:0000656
324	APC	Heterogeneous	HP:0001425
324	APC	High, narrow palate	HP:0002705
324	APC	Desmoid tumors	HP:0100245
324	APC	Somatic mutation	HP:0001428
324	APC	Osteoma	HP:0100246
324	APC	Protruding ear	HP:0000411
324	APC	Hypodontia	HP:0000668
324	APC	Carious teeth	HP:0000670
324	APC	Radioulnar synostosis	HP:0002974
324	APC	Narrow mouth	HP:0000160
324	APC	Micromelia	HP:0002983
324	APC	Hypoplasia of the radius	HP:0002984
324	APC	Abnormality of dental enamel	HP:0000682
324	APC	Subacute progressive viral hepatitis	HP:0006572
324	APC	Duodenal polyposis	HP:0004783
324	APC	Synostosis of carpal bones	HP:0005048
324	APC	Hyperpigmentation of the skin	HP:0000953
324	APC	Early balding	HP:0002234
324	APC	Single transverse palmar crease	HP:0000954
324	APC	Breast carcinoma	HP:0003002
324	APC	Colon cancer	HP:0003003
324	APC	Convex nasal ridge	HP:0000444
324	APC	Gastrointestinal hemorrhage	HP:0002239
324	APC	Unerupted tooth	HP:0000706
324	APC	Abnormality of the musculature	HP:0003011
324	APC	Esophageal carcinoma	HP:0011459
324	APC	Broad nasal tip	HP:0000455
324	APC	Sepsis	HP:0100806
324	APC	Subcutaneous nodule	HP:0001482
324	APC	Abnormality of the abdominal wall	HP:0004298
324	APC	Hypoplasia of the ulna	HP:0003022
324	APC	Renal cell carcinoma	HP:0005584
324	APC	Increased level of L-fucose in urine	HP:0410067
324	APC	Finger syndactyly	HP:0006101
324	APC	Short neck	HP:0000470
324	APC	Thick upper lip vermilion	HP:0000215
324	APC	Frontal bossing	HP:0002007
324	APC	High palate	HP:0000218
324	APC	Congenital hypertrophy of retinal pigment epithelium	HP:0007649
324	APC	Elbow dislocation	HP:0003042
324	APC	Pilomatrixoma	HP:0030434
324	APC	Brain neoplasm	HP:0030692
324	APC	Renal hypoplasia/aplasia	HP:0008678
324	APC	Intellectual disability, mild	HP:0001256
324	APC	Malabsorption	HP:0002024
324	APC	Abnormality of skin pigmentation	HP:0001000
324	APC	Toe syndactyly	HP:0001770
324	APC	Abdominal pain	HP:0002027
324	APC	Osteolysis	HP:0002797
324	APC	Downslanted palpebral fissures	HP:0000494
324	APC	Abnormal form of the vertebral bodies	HP:0003312
324	APC	Multiple lipomas	HP:0001012
324	APC	Variable expressivity	HP:0003828
324	APC	Ptosis	HP:0000508
324	APC	Myalgia	HP:0003326
8516	ITGA8	Sirenomelia	HP:0010497
8516	ITGA8	Abnormal intestine morphology	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	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	Non-midline cleft lip	HP:0100335
8516	ITGA8	Renal dysplasia	HP:0000110
8516	ITGA8	Cleft palate	HP:0000175
8516	ITGA8	Low-set ears	HP:0000369
8516	ITGA8	Abnormal sacrum morphology	HP:0005107
8516	ITGA8	Hypertension	HP:0000822
8516	ITGA8	Congenital onset	HP:0003577
8516	ITGA8	Hypertelorism	HP:0000316
8517	IKBKG	Deviation of finger	HP:0004097
8517	IKBKG	Umbilical hernia	HP:0001537
8517	IKBKG	Cataract	HP:0000518
8517	IKBKG	Gait disturbance	HP:0001288
8517	IKBKG	Recurrent mycobacterium avium complex infections	HP:0011275
8517	IKBKG	Nail pits	HP:0001803
8517	IKBKG	Hypoplastic fingernail	HP:0001804
8517	IKBKG	Onychogryposis	HP:0001805
8517	IKBKG	Ridged nail	HP:0001807
8517	IKBKG	Dystrophic toenail	HP:0001810
8517	IKBKG	Abnormal chorioretinal morphology	HP:0000532
8517	IKBKG	Corneal opacity	HP:0007957
8517	IKBKG	Hemiplegia/hemiparesis	HP:0004374
8517	IKBKG	Hypopigmented skin patches	HP:0001053
8517	IKBKG	Retinal detachment	HP:0000541
8517	IKBKG	Broad nail	HP:0001821
8517	IKBKG	Erythema	HP:0010783
8517	IKBKG	Impaired memory B cell generation	HP:0002847
8517	IKBKG	Abnormal hand morphology	HP:0005922
8517	IKBKG	Uveitis	HP:0000554
8517	IKBKG	Pulmonary arterial hypertension	HP:0002092
8517	IKBKG	Microphthalmia	HP:0000568
8517	IKBKG	Conical incisor	HP:0011065
8517	IKBKG	Alopecia	HP:0001596
8517	IKBKG	Retinal hemorrhage	HP:0000573
8517	IKBKG	Hypoplasia of the fovea	HP:0007750
8517	IKBKG	Cerebral cortical atrophy	HP:0002120
8517	IKBKG	Cerebral ischemia	HP:0002637
8517	IKBKG	Encephalitis	HP:0002383
8517	IKBKG	Blue sclerae	HP:0000592
8517	IKBKG	Abnormality of dental morphology	HP:0006482
8517	IKBKG	Eosinophilia	HP:0001880
8517	IKBKG	Scoliosis	HP:0002650
8517	IKBKG	Scarring	HP:0100699
8517	IKBKG	Congestive heart failure	HP:0001635
8517	IKBKG	Verrucae	HP:0200043
8517	IKBKG	Skin ulcer	HP:0200042
8517	IKBKG	Attention deficit hyperactivity disorder	HP:0007018
8517	IKBKG	Hearing abnormality	HP:0000364
8517	IKBKG	Breast hypoplasia	HP:0003187
8517	IKBKG	Nail dysplasia	HP:0002164
8517	IKBKG	Hemivertebrae	HP:0002937
8517	IKBKG	Abnormal blistering of the skin	HP:0008066
8517	IKBKG	Sparse hair	HP:0008070
8517	IKBKG	Optic atrophy	HP:0000648
8517	IKBKG	X-linked recessive inheritance	HP:0001419
8517	IKBKG	Camptodactyly of finger	HP:0100490
8517	IKBKG	X-linked dominant inheritance	HP:0001423
8517	IKBKG	Dysgammaglobulinemia	HP:0002961
8517	IKBKG	Hypodontia	HP:0000668
8517	IKBKG	Recurrent bacterial infections	HP:0002718
8517	IKBKG	Recurrent infections	HP:0002719
8517	IKBKG	Decreased circulating IgA level	HP:0002720
8517	IKBKG	Coarse hair	HP:0002208
8517	IKBKG	Immunodeficiency	HP:0002721
8517	IKBKG	Fine hair	HP:0002213
8517	IKBKG	Increased circulating IgM level	HP:0003496
8517	IKBKG	Retinal vascular proliferation	HP:0007850
8517	IKBKG	Abnormality of dental enamel	HP:0000682
8517	IKBKG	Delayed eruption of teeth	HP:0000684
8517	IKBKG	Breast aplasia	HP:0100783
8517	IKBKG	Atrophic, patchy alopecia	HP:0004529
8517	IKBKG	Supernumerary ribs	HP:0005815
8517	IKBKG	Conical tooth	HP:0000698
8517	IKBKG	Cognitive impairment	HP:0100543
8517	IKBKG	Dry skin	HP:0000958
8517	IKBKG	Kyphoscoliosis	HP:0002751
8517	IKBKG	Hyperkeratosis	HP:0000962
8517	IKBKG	Ectodermal dysplasia	HP:0000968
8517	IKBKG	Asymmetric growth	HP:0100555
8517	IKBKG	Oral cleft	HP:0000202
8517	IKBKG	Hyperhidrosis	HP:0000975
8517	IKBKG	Absent hand	HP:0004050
8517	IKBKG	Ridged fingernail	HP:0008402
8517	IKBKG	Nail dystrophy	HP:0008404
8517	IKBKG	Pallor	HP:0000980
8517	IKBKG	Finger syndactyly	HP:0006101
8517	IKBKG	Frontal bossing	HP:0002007
8517	IKBKG	Decreased circulating IgG level	HP:0004315
8517	IKBKG	Skin rash	HP:0000988
8517	IKBKG	Intellectual disability	HP:0001249
8517	IKBKG	Spina bifida occulta	HP:0003298
8517	IKBKG	Short stature	HP:0004322
8517	IKBKG	Seizures	HP:0001250
8517	IKBKG	Muscular hypotonia	HP:0001252
8517	IKBKG	Strabismus	HP:0000486
8517	IKBKG	Telangiectasia of the skin	HP:0100585
8517	IKBKG	Irregular hyperpigmentation	HP:0007400
8517	IKBKG	Abnormality of skin pigmentation	HP:0001000
8517	IKBKG	Spasticity	HP:0001257
8517	IKBKG	Keratitis	HP:0000491
8517	IKBKG	Lymphedema	HP:0001004
8517	IKBKG	Osteolysis	HP:0002797
8517	IKBKG	Global developmental delay	HP:0001263
8517	IKBKG	Recurrent streptococcus pneumoniae infections	HP:0005366
8517	IKBKG	Visual impairment	HP:0000505
8517	IKBKG	Osteopetrosis	HP:0011002
8517	IKBKG	Microcephaly	HP:0000252
8517	IKBKG	Hypoplastic nipples	HP:0002557
8517	IKBKG	Supernumerary nipple	HP:0002558
326	AIRE	Pigmentary retinopathy	HP:0000580
326	AIRE	Cataract	HP:0000518
326	AIRE	Autosomal dominant inheritance	HP:0000006
326	AIRE	Female hypogonadism	HP:0000134
326	AIRE	Autosomal recessive inheritance	HP:0000007
326	AIRE	Keratoconjunctivitis	HP:0001096
326	AIRE	Decreased circulating parathyroid hormone level	HP:0031817
326	AIRE	Abnormal fingernail morphology	HP:0001231
326	AIRE	Opacification of the corneal stroma	HP:0007759
326	AIRE	Primary adrenal insufficiency	HP:0008207
326	AIRE	Autoimmunity	HP:0002960
326	AIRE	Cerebral calcification	HP:0002514
326	AIRE	Asplenia	HP:0001746
326	AIRE	Pallor	HP:0000980
326	AIRE	Vitiligo	HP:0001045
326	AIRE	Chronic atrophic gastritis	HP:0002582
326	AIRE	Hypoplasia of dental enamel	HP:0006297
326	AIRE	Male hypogonadism	HP:0000026
326	AIRE	Adrenal hyperplasia	HP:0008221
326	AIRE	Hypopigmented skin patches	HP:0001053
326	AIRE	Diarrhea	HP:0002014
326	AIRE	Decreased circulating aldosterone level	HP:0004319
326	AIRE	Photophobia	HP:0000613
326	AIRE	Juvenile onset	HP:0003621
326	AIRE	Chronic mucocutaneous candidiasis	HP:0002728
326	AIRE	Malabsorption	HP:0002024
326	AIRE	Type I diabetes mellitus	HP:0100651
326	AIRE	Constriction of peripheral visual field	HP:0001133
326	AIRE	Increased circulating cortisol level	HP:0003118
326	AIRE	Anemia	HP:0001903
326	AIRE	Reduced visual acuity	HP:0007663
326	AIRE	Abnormality of the cerebral vasculature	HP:0100659
326	AIRE	Abnormal calcium-phosphate regulating hormone level	HP:0100530
326	AIRE	Diabetes mellitus	HP:0000819
326	AIRE	Hypothyroidism	HP:0000821
326	AIRE	Visual impairment	HP:0000505
326	AIRE	Nephrocalcinosis	HP:0000121
326	AIRE	Cholelithiasis	HP:0001081
326	AIRE	Chronic active hepatitis	HP:0200120
326	AIRE	Alopecia	HP:0001596
326	AIRE	Hypoparathyroidism	HP:0000829
57670	KIAA1549	Abnormal electroretinogram	HP:0000512
57670	KIAA1549	Hyperreflexia	HP:0001347
57670	KIAA1549	Cataract	HP:0000518
57670	KIAA1549	Hypogonadism	HP:0000135
57670	KIAA1549	Optic atrophy	HP:0000648
57670	KIAA1549	Hyperinsulinemia	HP:0000842
57670	KIAA1549	Anteverted nares	HP:0000463
57670	KIAA1549	Conductive hearing impairment	HP:0000405
57670	KIAA1549	Sensorineural hearing impairment	HP:0000407
57670	KIAA1549	Abnormality of retinal pigmentation	HP:0007703
57670	KIAA1549	Ophthalmoplegia	HP:0000602
57670	KIAA1549	Type II diabetes mellitus	HP:0005978
57670	KIAA1549	Atypical scarring of skin	HP:0000987
57670	KIAA1549	Hypoplasia of penis	HP:0008736
57670	KIAA1549	Intellectual disability	HP:0001249
57670	KIAA1549	Abnormal testis morphology	HP:0000035
57670	KIAA1549	Photophobia	HP:0000613
57670	KIAA1549	Obesity	HP:0001513
57670	KIAA1549	Blindness	HP:0000618
57670	KIAA1549	Abnormal retinal vascular morphology	HP:0008046
57670	KIAA1549	Wide nasal bridge	HP:0000431
57670	KIAA1549	Keratoconus	HP:0000563
57670	KIAA1549	Glaucoma	HP:0000501
57670	KIAA1549	Progressive night blindness	HP:0007675
57670	KIAA1549	Nystagmus	HP:0000639
8518	ELP1	EMG abnormality	HP:0003457
8518	ELP1	Corneal ulceration	HP:0012804
8518	ELP1	Avascular necrosis	HP:0010885
8518	ELP1	Neuropathic arthropathy	HP:0002821
8518	ELP1	Autosomal recessive inheritance	HP:0000007
8518	ELP1	Incoordination	HP:0002311
8518	ELP1	Gait disturbance	HP:0001288
8518	ELP1	Optic atrophy	HP:0000648
8518	ELP1	Alacrima	HP:0000522
8518	ELP1	Generalized hypotonia	HP:0001290
8518	ELP1	Corneal opacity	HP:0007957
8518	ELP1	Abnormality of the peritoneum	HP:0002585
8518	ELP1	Recurrent infections due to aspiration	HP:0004891
8518	ELP1	Recurrent respiratory infections	HP:0002205
8518	ELP1	Impaired pain sensation	HP:0007328
8518	ELP1	Myopia	HP:0000545
8518	ELP1	Recurrent fever	HP:0001954
8518	ELP1	Acrocyanosis	HP:0001063
8518	ELP1	Feeding difficulties in infancy	HP:0008872
8518	ELP1	Episodic hyperhidrosis	HP:0001069
8518	ELP1	Abnormal renal physiology	HP:0012211
8518	ELP1	Hypertension	HP:0000822
8518	ELP1	Abnormality of the pleura	HP:0002103
8518	ELP1	Decreased sensitivity to hypoxemia	HP:0005947
8518	ELP1	Elevated serum creatinine	HP:0003259
8518	ELP1	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
8518	ELP1	Decreased corneal reflex	HP:0008000
8518	ELP1	Increased blood urea nitrogen	HP:0003138
8518	ELP1	Behavioral abnormality	HP:0000708
8518	ELP1	Recurrent fractures	HP:0002757
8518	ELP1	Hypohidrosis	HP:0000966
8518	ELP1	Emotional lability	HP:0000712
8518	ELP1	Heterochromia iridis	HP:0001100
8518	ELP1	Hyperhidrosis	HP:0000975
8518	ELP1	Renal insufficiency	HP:0000083
8518	ELP1	Glomerulopathy	HP:0100820
8518	ELP1	Hyponatremia	HP:0002902
8518	ELP1	Corneal erosion	HP:0200020
8518	ELP1	Scoliosis	HP:0002650
8518	ELP1	Progressive	HP:0003676
8518	ELP1	Vomiting	HP:0002013
8518	ELP1	Diarrhea	HP:0002014
8518	ELP1	Decreased taste sensation	HP:0000224
8518	ELP1	Glomerulosclerosis	HP:0000096
8518	ELP1	Seizures	HP:0001250
8518	ELP1	Ataxia	HP:0001251
8518	ELP1	Constipation	HP:0002019
8518	ELP1	Muscular hypotonia	HP:0001252
8518	ELP1	Gastroesophageal reflux	HP:0002020
8518	ELP1	Growth delay	HP:0001510
8518	ELP1	Abnormal pupil morphology	HP:0000615
8518	ELP1	Osteolysis	HP:0002797
8518	ELP1	Recurrent corneal erosions	HP:0000495
8518	ELP1	Hyporeflexia	HP:0001265
8518	ELP1	Tachycardia	HP:0001649
8518	ELP1	Congenital onset	HP:0003577
8518	ELP1	Orthostatic hypotension	HP:0001278
8518	ELP1	Malignant hyperthermia	HP:0002047
330	BIRC3	Weight loss	HP:0001824
330	BIRC3	Nausea and vomiting	HP:0002017
330	BIRC3	Pulmonary infiltrates	HP:0002113
330	BIRC3	Constipation	HP:0002019
330	BIRC3	Abnormal nasolacrimal system morphology	HP:0000614
330	BIRC3	Abdominal pain	HP:0002027
330	BIRC3	Anemia	HP:0001903
330	BIRC3	Hyperhidrosis	HP:0000975
330	BIRC3	Mediastinal lymphadenopathy	HP:0100721
330	BIRC3	Abnormality of the thyroid gland	HP:0000820
330	BIRC3	Fever	HP:0001945
330	BIRC3	Visual impairment	HP:0000505
330	BIRC3	Fatigue	HP:0012378
330	BIRC3	Posterior uveitis	HP:0012123
330	BIRC3	Recurrent respiratory infections	HP:0002205
330	BIRC3	B-cell lymphoma	HP:0012191
57674	RNF213	Intellectual disability	HP:0001249
57674	RNF213	Telangiectasia	HP:0001009
57674	RNF213	Abnormality of the cerebral vasculature	HP:0100659
57674	RNF213	Seizures	HP:0001250
57674	RNF213	Ventriculomegaly	HP:0002119
331	XIAP	Hepatomegaly	HP:0002240
331	XIAP	Meningitis	HP:0001287
331	XIAP	X-linked inheritance	HP:0001417
331	XIAP	X-linked recessive inheritance	HP:0001419
331	XIAP	Encephalitis	HP:0002383
331	XIAP	Splenomegaly	HP:0001744
331	XIAP	Thrombocytopenia	HP:0001873
331	XIAP	Increased serum ferritin	HP:0003281
331	XIAP	Reduced natural killer cell activity	HP:0012178
331	XIAP	Hepatitis	HP:0012115
331	XIAP	Pancytopenia	HP:0001876
331	XIAP	Colitis	HP:0002583
331	XIAP	Decreased antibody level in blood	HP:0004313
331	XIAP	Fever	HP:0001945
331	XIAP	Lymphocytosis	HP:0100827
331	XIAP	Decreased circulating IgG level	HP:0004315
331	XIAP	Lymphadenopathy	HP:0002716
331	XIAP	Recurrent infections	HP:0002719
331	XIAP	Immunodeficiency	HP:0002721
331	XIAP	Acne	HP:0001061
331	XIAP	Increased circulating IgM level	HP:0003496
331	XIAP	Lymphoma	HP:0002665
331	XIAP	Recurrent pharyngitis	HP:0100776
331	XIAP	Hypertriglyceridemia	HP:0002155
331	XIAP	Recurrent skin infections	HP:0001581
331	XIAP	Anemia	HP:0001903
331	XIAP	Hepatic encephalopathy	HP:0002480
331	XIAP	Fulminant hepatitis	HP:0004787
331	XIAP	Aplastic anemia	HP:0001915
331	XIAP	Erythema nodosum	HP:0012219
331	XIAP	Folliculitis	HP:0025084
331	XIAP	Hemophagocytosis	HP:0012156
331	XIAP	Hypofibrinogenemia	HP:0011900
331	XIAP	Cellular immunodeficiency	HP:0005374
8526	DGKE	Thrombocytopenia	HP:0001873
8526	DGKE	Thickening of the glomerular basement membrane	HP:0004722
8526	DGKE	Glomerulonephritis	HP:0000099
8526	DGKE	Nephrotic syndrome	HP:0000100
8526	DGKE	Hemolytic anemia	HP:0001878
8526	DGKE	Hemolytic-uremic syndrome	HP:0005575
8526	DGKE	Autosomal recessive inheritance	HP:0000007
8526	DGKE	Progressive	HP:0003676
8526	DGKE	Proteinuria	HP:0000093
8526	DGKE	Stage 5 chronic kidney disease	HP:0003774
8526	DGKE	Acute kidney injury	HP:0001919
57679	ALS2	Saccadic smooth pursuit	HP:0001152
57679	ALS2	EMG abnormality	HP:0003457
57679	ALS2	Slow saccadic eye movements	HP:0000514
57679	ALS2	Skeletal muscle atrophy	HP:0003202
57679	ALS2	Drooling	HP:0002307
57679	ALS2	Spastic tetraparesis	HP:0001285
57679	ALS2	Autosomal recessive inheritance	HP:0000007
57679	ALS2	Gait disturbance	HP:0001288
57679	ALS2	Infantile onset	HP:0003593
57679	ALS2	Lower limb spasticity	HP:0002061
57679	ALS2	Tetraplegia	HP:0002445
57679	ALS2	Abnormality of the bladder	HP:0000014
57679	ALS2	Spastic gait	HP:0002064
57679	ALS2	Pseudobulbar behavioral symptoms	HP:0002193
57679	ALS2	Urinary incontinence	HP:0000020
57679	ALS2	Babinski sign	HP:0003487
57679	ALS2	Spastic dysarthria	HP:0002464
57679	ALS2	Juvenile onset	HP:0003621
57679	ALS2	Hand muscle atrophy	HP:0009130
57679	ALS2	Muscle weakness	HP:0001324
57679	ALS2	Dystonia	HP:0001332
57679	ALS2	Difficulty in tongue movements	HP:0000183
57679	ALS2	Amyotrophic lateral sclerosis	HP:0007354
57679	ALS2	Spasticity of facial muscles	HP:0002491
57679	ALS2	Abnormality of the corticospinal tract	HP:0002492
57679	ALS2	Abnormal lower motor neuron morphology	HP:0002366
57679	ALS2	Hyperreflexia	HP:0001347
57679	ALS2	Loss of speech	HP:0002371
57679	ALS2	Spasticity of pharyngeal muscles	HP:0002501
57679	ALS2	Childhood onset	HP:0011463
57679	ALS2	Cerebral cortical atrophy	HP:0002120
57679	ALS2	Upper limb spasticity	HP:0006986
57679	ALS2	Spastic tetraplegia	HP:0002510
57679	ALS2	Abnormal upper motor neuron morphology	HP:0002127
57679	ALS2	Pallor	HP:0000980
57679	ALS2	Abnormal pyramidal sign	HP:0007256
57679	ALS2	Scoliosis	HP:0002650
57679	ALS2	Progressive	HP:0003676
57679	ALS2	Slow progression	HP:0003677
57679	ALS2	Gait imbalance	HP:0002141
57679	ALS2	Abnormality of the eye	HP:0000478
57679	ALS2	Dysphagia	HP:0002015
57679	ALS2	Impaired mastication	HP:0005216
57679	ALS2	Pes cavus	HP:0001761
57679	ALS2	Spasticity	HP:0001257
57679	ALS2	Spastic paraplegia	HP:0001258
57679	ALS2	Achilles tendon contracture	HP:0001771
57679	ALS2	Dysarthria	HP:0001260
57679	ALS2	Distal amyotrophy	HP:0003693
57679	ALS2	Abnormality of eye movement	HP:0000496
57679	ALS2	EMG: chronic denervation signs	HP:0003444
57679	ALS2	Motor delay	HP:0001270
57679	ALS2	Anarthria	HP:0002425
57679	ALS2	Sensory neuropathy	HP:0000763
57679	ALS2	Decreased muscle mass	HP:0003199
335	APOA1	Hepatomegaly	HP:0002240
335	APOA1	Decreased HDL cholesterol concentration	HP:0003233
335	APOA1	EMG abnormality	HP:0003457
335	APOA1	Nephrotic syndrome	HP:0000100
335	APOA1	Autosomal dominant inheritance	HP:0000006
335	APOA1	Edema	HP:0000969
335	APOA1	Blurred vision	HP:0000622
335	APOA1	Anemia	HP:0001903
335	APOA1	Splenomegaly	HP:0001744
335	APOA1	Abnormality of the liver	HP:0001392
335	APOA1	Nephropathy	HP:0000112
335	APOA1	Generalized amyloid deposition	HP:0003216
335	APOA1	Cholestasis	HP:0001396
335	APOA1	Corneal opacity	HP:0007957
335	APOA1	Hemiplegia/hemiparesis	HP:0004374
335	APOA1	Hypertension	HP:0000822
335	APOA1	Hematuria	HP:0000790
335	APOA1	Myocardial infarction	HP:0001658
335	APOA1	Lymphadenopathy	HP:0002716
335	APOA1	Skin rash	HP:0000988
335	APOA1	Premature coronary artery atherosclerosis	HP:0005181
335	APOA1	Proteinuria	HP:0000093
335	APOA1	Xanthomatosis	HP:0000991
338	APOB	Precocious atherosclerosis	HP:0004416
338	APOB	Renal artery stenosis	HP:0001920
338	APOB	Heart murmur	HP:0030148
338	APOB	Increased LDL cholesterol concentration	HP:0003141
338	APOB	Hyperlipidemia	HP:0003077
338	APOB	Autosomal dominant inheritance	HP:0000006
338	APOB	Autosomal recessive inheritance	HP:0000007
338	APOB	Acanthocytosis	HP:0001927
338	APOB	Arthralgia	HP:0002829
338	APOB	Coronary artery atherosclerosis	HP:0001677
338	APOB	Angina pectoris	HP:0001681
338	APOB	Abnormal internal carotid artery morphology	HP:3000062
338	APOB	Abnormal eye physiology	HP:0012373
338	APOB	Peripheral arterial stenosis	HP:0004950
338	APOB	Xanthelasma	HP:0001114
338	APOB	Supravalvular aortic stenosis	HP:0004381
338	APOB	Abnormality of nervous system physiology	HP:0012638
338	APOB	Renal steatosis	HP:0000799
338	APOB	Cerebral artery atherosclerosis	HP:0007201
338	APOB	Retinal degeneration	HP:0000546
338	APOB	Coronary artery aneurysm	HP:0030882
338	APOB	Ataxia	HP:0001251
338	APOB	Reduced tendon reflexes	HP:0001315
338	APOB	Calcification of the aorta	HP:0004963
338	APOB	Myocardial steatosis	HP:0006693
338	APOB	Left ventricular dysfunction	HP:0005162
338	APOB	Decreased LDL cholesterol concentration	HP:0003563
338	APOB	Sudden cardiac death	HP:0001645
338	APOB	Aortic atherosclerotic lesion	HP:0012397
338	APOB	Dyspnea	HP:0002094
338	APOB	Optic neuropathy	HP:0001138
338	APOB	Hypercholesterolemia	HP:0003124
338	APOB	Hepatic steatosis	HP:0001397
338	APOB	Mitral regurgitation	HP:0001653
338	APOB	Hypertension	HP:0000822
338	APOB	Premature arteriosclerosis	HP:0005177
338	APOB	Myocardial infarction	HP:0001658
338	APOB	Tendon xanthomatosis	HP:0010874
338	APOB	Corneal arcus	HP:0001084
338	APOB	Premature coronary artery atherosclerosis	HP:0005181
338	APOB	Rod-cone dystrophy	HP:0000510
57688	ZSWIM6	Lipoma	HP:0012032
57688	ZSWIM6	Macrocephaly	HP:0000256
57688	ZSWIM6	Large sella turcica	HP:0002690
57688	ZSWIM6	Anterior pituitary hypoplasia	HP:0010627
57688	ZSWIM6	Meningocele	HP:0002435
57688	ZSWIM6	Autosomal dominant inheritance	HP:0000006
57688	ZSWIM6	Hypoplasia of the olfactory bulb	HP:0040326
57688	ZSWIM6	Syndactyly	HP:0001159
57688	ZSWIM6	Abnormality of the glabella	HP:0002056
57688	ZSWIM6	Infantile onset	HP:0003593
57688	ZSWIM6	Broad columella	HP:0010761
57688	ZSWIM6	Generalized hypotonia	HP:0001290
57688	ZSWIM6	Hypopituitarism	HP:0040075
57688	ZSWIM6	Median cleft palate	HP:0009099
57688	ZSWIM6	Aplasia/Hypoplasia of the tibia	HP:0005772
57688	ZSWIM6	Onychogryposis	HP:0001805
57688	ZSWIM6	Unsteady gait	HP:0002317
57688	ZSWIM6	Choroid plexus cyst	HP:0002190
57688	ZSWIM6	Happy demeanor	HP:0040082
57688	ZSWIM6	Midline defect of the nose	HP:0004122
57688	ZSWIM6	Downturned corners of mouth	HP:0002714
57688	ZSWIM6	Wide mouth	HP:0000154
57688	ZSWIM6	Bifid nose	HP:0011803
57688	ZSWIM6	Cryptorchidism	HP:0000028
57688	ZSWIM6	Hypoplasia of the corpus callosum	HP:0002079
57688	ZSWIM6	Dermoid cyst	HP:0025247
57688	ZSWIM6	Depressed nasal bridge	HP:0005280
57688	ZSWIM6	Myopia	HP:0000545
57688	ZSWIM6	Median cleft lip	HP:0000161
57688	ZSWIM6	Preaxial polydactyly	HP:0100258
57688	ZSWIM6	Encephalocele	HP:0002084
57688	ZSWIM6	Retrocerebellar cyst	HP:0006951
57688	ZSWIM6	Cleft palate	HP:0000175
57688	ZSWIM6	Wide nasal bridge	HP:0000431
57688	ZSWIM6	Preaxial foot polydactyly	HP:0001841
57688	ZSWIM6	Esotropia	HP:0000565
57688	ZSWIM6	U-Shaped upper lip vermilion	HP:0010806
57688	ZSWIM6	Hypertelorism	HP:0000316
57688	ZSWIM6	Thick eyebrow	HP:0000574
57688	ZSWIM6	Vertical clivus	HP:0010559
57688	ZSWIM6	Absent speech	HP:0001344
57688	ZSWIM6	Tics	HP:0100033
57688	ZSWIM6	Delayed ability to walk	HP:0031936
57688	ZSWIM6	Feeding difficulties	HP:0011968
57688	ZSWIM6	Open mouth	HP:0000194
57688	ZSWIM6	Abnormal toenail morphology	HP:0008388
57688	ZSWIM6	Ventriculomegaly	HP:0002119
57688	ZSWIM6	Broad nasal tip	HP:0000455
57688	ZSWIM6	Bifid nasal tip	HP:0000456
57688	ZSWIM6	Thick nasal alae	HP:0009928
57688	ZSWIM6	Polydactyly	HP:0010442
57688	ZSWIM6	Cleft upper lip	HP:0000204
57688	ZSWIM6	Prominent supraorbital ridges	HP:0000336
57688	ZSWIM6	Midline central nervous system lipomas	HP:0006866
57688	ZSWIM6	Prominent forehead	HP:0011220
57688	ZSWIM6	Broad-based gait	HP:0002136
57688	ZSWIM6	Upper airway obstruction	HP:0002781
57688	ZSWIM6	Intellectual disability	HP:0001249
57688	ZSWIM6	Talipes equinovarus	HP:0001762
57688	ZSWIM6	Seizures	HP:0001250
57688	ZSWIM6	Constipation	HP:0002019
57688	ZSWIM6	Gastroesophageal reflux	HP:0002020
57688	ZSWIM6	Everted lower lip vermilion	HP:0000232
57688	ZSWIM6	Gray matter heterotopia	HP:0002282
57688	ZSWIM6	Downslanted palpebral fissures	HP:0000494
57688	ZSWIM6	Global developmental delay	HP:0001263
57688	ZSWIM6	Large fontanelles	HP:0000239
57688	ZSWIM6	Hyperactivity	HP:0000752
57688	ZSWIM6	Hyporeflexia	HP:0001265
57688	ZSWIM6	Glaucoma	HP:0000501
57688	ZSWIM6	Brachycephaly	HP:0000248
57688	ZSWIM6	Patellar hypoplasia	HP:0003065
57688	ZSWIM6	Telecanthus	HP:0000506
57688	ZSWIM6	Agenesis of corpus callosum	HP:0001274
57688	ZSWIM6	Ptosis	HP:0000508
57688	ZSWIM6	Short nose	HP:0003196
57688	ZSWIM6	Hypertonia	HP:0001276
57688	ZSWIM6	Progressive microcephaly	HP:0000253
344	APOC2	Hepatomegaly	HP:0002240
344	APOC2	Splenomegaly	HP:0001744
344	APOC2	Lipemia retinalis	HP:0000660
344	APOC2	Pancreatitis	HP:0001733
344	APOC2	Eruptive xanthomas	HP:0001013
344	APOC2	Autosomal recessive inheritance	HP:0000007
344	APOC2	Hypertriglyceridemia	HP:0002155
345	APOC3	Hypercholesterolemia	HP:0003124
345	APOC3	Hyperlipidemia	HP:0003077
345	APOC3	Increased HDL cholesterol concentration	HP:0012184
345	APOC3	Hypotriglyceridemia	HP:0012153
345	APOC3	Decreased LDL cholesterol concentration	HP:0003563
348	APOE	Late onset	HP:0003584
348	APOE	Autosomal dominant inheritance	HP:0000006
348	APOE	Autosomal recessive inheritance	HP:0000007
348	APOE	Neurofibrillary tangles	HP:0002185
348	APOE	Middle age onset	HP:0003596
348	APOE	Angina pectoris	HP:0001681
348	APOE	Parkinsonism	HP:0001300
348	APOE	Mesangial hypercellularity	HP:0012574
348	APOE	Renal steatosis	HP:0000799
348	APOE	Decreased HDL cholesterol concentration	HP:0003233
348	APOE	Senile plaques	HP:0100256
348	APOE	Absent axillary hair	HP:0002221
348	APOE	Diabetes mellitus	HP:0000819
348	APOE	Hypercholesterolemia	HP:0003124
348	APOE	Hypothyroidism	HP:0000821
348	APOE	Hyperpigmentation of the skin	HP:0000953
348	APOE	Corneal arcus	HP:0001084
348	APOE	Premature coronary artery atherosclerosis	HP:0005181
348	APOE	Sea-blue histiocytosis	HP:0001982
348	APOE	Hepatomegaly	HP:0002240
348	APOE	Pulmonary infiltrates	HP:0002113
348	APOE	Cerebral amyloid angiopathy	HP:0011970
348	APOE	Sleep-wake cycle disturbance	HP:0006979
348	APOE	Increased LDL cholesterol concentration	HP:0003141
348	APOE	Acute pancreatitis	HP:0001735
348	APOE	Petechiae	HP:0000967
348	APOE	Edema	HP:0000969
348	APOE	Subcutaneous nodule	HP:0001482
348	APOE	Type IV atherosclerotic lesion	HP:0002635
348	APOE	Gout	HP:0001997
348	APOE	Accelerated atherosclerosis	HP:0004943
348	APOE	Alzheimer disease	HP:0002511
348	APOE	Splenomegaly	HP:0001744
348	APOE	Thrombocytopenia	HP:0001873
348	APOE	Renal insufficiency	HP:0000083
348	APOE	Glomerulopathy	HP:0100820
348	APOE	Peripheral arterial stenosis	HP:0004950
348	APOE	Dementia	HP:0000726
348	APOE	Xanthelasma	HP:0001114
348	APOE	Proteinuria	HP:0000093
348	APOE	Abnormality of the eye	HP:0000478
348	APOE	Retinopathy	HP:0000488
348	APOE	Obesity	HP:0001513
348	APOE	Hypertriglyceridemia	HP:0002155
348	APOE	Aortic atherosclerotic lesion	HP:0012397
348	APOE	Mediastinal lymphadenopathy	HP:0100721
348	APOE	Cirrhosis	HP:0001394
348	APOE	Hypopigmentation of the skin	HP:0001010
348	APOE	Blepharitis	HP:0000498
348	APOE	Hepatic steatosis	HP:0001397
348	APOE	Long-tract signs	HP:0002423
348	APOE	Tendon xanthomatosis	HP:0010874
8540	AGPS	Short humerus	HP:0005792
8540	AGPS	Failure to thrive	HP:0001508
8540	AGPS	Autosomal recessive inheritance	HP:0000007
8540	AGPS	Rhizomelia	HP:0008905
8540	AGPS	Short femur	HP:0003097
8540	AGPS	Epiphyseal stippling	HP:0010655
351	APP	Decreased level of GABA in serum	HP:0410054
351	APP	Cerebral amyloid angiopathy	HP:0011970
351	APP	Behavioral abnormality	HP:0000708
351	APP	Death in early adulthood	HP:0100613
351	APP	Febrile seizures	HP:0002373
351	APP	Autosomal dominant inheritance	HP:0000006
351	APP	Cerebral cortical atrophy	HP:0002120
351	APP	Gait disturbance	HP:0001288
351	APP	Paresthesia	HP:0003401
351	APP	Neurofibrillary tangles	HP:0002185
351	APP	Agitation	HP:0000713
351	APP	Confusion	HP:0001289
351	APP	Tortuous cerebral arteries	HP:0004938
351	APP	Semantic dementia	HP:0030219
351	APP	Headache	HP:0002315
351	APP	Aphasia	HP:0002381
351	APP	Cerebral ischemia	HP:0002637
351	APP	Deposits immunoreactive to beta-amyloid protein	HP:0003791
351	APP	Alzheimer disease	HP:0002511
351	APP	Stroke	HP:0001297
351	APP	Abnormal social behavior	HP:0012433
351	APP	Oculomotor apraxia	HP:0000657
351	APP	Heterogeneous	HP:0001425
351	APP	Sensory impairment	HP:0003474
351	APP	Cerebral calcification	HP:0002514
351	APP	Parkinsonism	HP:0001300
351	APP	Dementia	HP:0000726
351	APP	Migraine	HP:0002076
351	APP	Finger agnosia	HP:0010525
351	APP	Dysgraphia	HP:0010526
351	APP	Disinhibition	HP:0000734
351	APP	Language impairment	HP:0002463
351	APP	Dysphagia	HP:0002015
351	APP	Intellectual disability	HP:0001249
351	APP	Hallucinations	HP:0000738
351	APP	Seizures	HP:0001250
351	APP	Ataxia	HP:0001251
351	APP	Recurrent cerebral hemorrhage	HP:0004968
351	APP	Coma	HP:0001259
351	APP	Global developmental delay	HP:0001263
351	APP	Cerebellar hemorrhage	HP:0011695
351	APP	Memory impairment	HP:0002354
351	APP	Long-tract signs	HP:0002423
351	APP	Myoclonus	HP:0001336
351	APP	Abnormality of vision	HP:0000504
351	APP	Hypertonia	HP:0001276
351	APP	Cerebral hemorrhage	HP:0001342
57697	FANCM	Umbilical hernia	HP:0001537
57697	FANCM	Duodenal stenosis	HP:0100867
57697	FANCM	Cataract	HP:0000518
57697	FANCM	Hypogonadism	HP:0000135
57697	FANCM	Abnormality of femur morphology	HP:0002823
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	Decreased testicular size	HP:0008734
57697	FANCM	Weight loss	HP:0001824
57697	FANCM	Elevated circulating follicle stimulating hormone level	HP:0008232
57697	FANCM	Cranial nerve paralysis	HP:0006824
57697	FANCM	Bicornuate uterus	HP:0000813
57697	FANCM	Myelodysplasia	HP:0002863
57697	FANCM	Cleft palate	HP:0000175
57697	FANCM	Triphalangeal thumb	HP:0001199
57697	FANCM	Hypospadias	HP:0000047
57697	FANCM	Aplasia/Hypoplasia of the uvula	HP:0010293
57697	FANCM	Microphthalmia	HP:0000568
57697	FANCM	Non-obstructive azoospermia	HP:0011961
57697	FANCM	Obstructive azoospermia	HP:0011962
57697	FANCM	Arteriovenous malformation	HP:0100026
57697	FANCM	Hypertelorism	HP:0000316
57697	FANCM	Abnormal localization of kidney	HP:0100542
57697	FANCM	Elevated circulating luteinizing hormone level	HP:0011969
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	Increased circulating gonadotropin level	HP:0000837
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	Leukopenia	HP:0001882
57697	FANCM	High palate	HP:0000218
57697	FANCM	Micrognathia	HP:0000347
57697	FANCM	Atrial septal defect	HP:0001631
57697	FANCM	Abnormal carotid artery morphology	HP:0005344
57697	FANCM	Abnormality of the hypothalamus-pituitary axis	HP:0000864
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	Absent testis	HP:0010469
57697	FANCM	Aplasia/Hypoplasia of the radius	HP:0006501
57697	FANCM	Renal hypoplasia/aplasia	HP:0008678
57697	FANCM	Strabismus	HP:0000486
57697	FANCM	Anal atresia	HP:0002023
57697	FANCM	Intrauterine growth retardation	HP:0001511
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	Oligomenorrhea	HP:0000876
57697	FANCM	Hearing impairment	HP:0000365
57697	FANCM	Abnormal aortic valve morphology	HP:0001646
57697	FANCM	Spina bifida	HP:0002414
57697	FANCM	Hydrocephalus	HP:0000238
57697	FANCM	Global developmental delay	HP:0001263
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	Visual impairment	HP:0000505
57697	FANCM	Aplasia/Hypoplasia of fingers	HP:0006265
57697	FANCM	Microcephaly	HP:0000252
57697	FANCM	Ptosis	HP:0000508
57697	FANCM	External ear malformation	HP:0008572
57697	FANCM	Reduced bone mineral density	HP:0004349
57697	FANCM	Nystagmus	HP:0000639
353	APRT	Renal insufficiency	HP:0000083
353	APRT	Nephrolithiasis	HP:0000787
353	APRT	Hematuria	HP:0000790
353	APRT	Autosomal recessive inheritance	HP:0000007
353	APRT	Dysuria	HP:0100518
353	APRT	Recurrent urinary tract infections	HP:0000010
353	APRT	Stage 5 chronic kidney disease	HP:0003774
8546	AP3B1	Periodontitis	HP:0000704
8546	AP3B1	Hepatomegaly	HP:0002240
8546	AP3B1	Upslanted palpebral fissure	HP:0000582
8546	AP3B1	Autosomal recessive inheritance	HP:0000007
8546	AP3B1	Splenomegaly	HP:0001744
8546	AP3B1	Thrombocytopenia	HP:0001873
8546	AP3B1	Neutropenia	HP:0001875
8546	AP3B1	Ocular albinism	HP:0001107
8546	AP3B1	Long philtrum	HP:0000343
8546	AP3B1	Coarse facial features	HP:0000280
8546	AP3B1	Aberrant melanosome maturation	HP:0007384
8546	AP3B1	Thin upper lip vermilion	HP:0000219
8546	AP3B1	Carious teeth	HP:0000670
8546	AP3B1	Pulmonary fibrosis	HP:0002206
8546	AP3B1	Recurrent bacterial infections	HP:0002718
8546	AP3B1	Photophobia	HP:0000613
8546	AP3B1	Strabismus	HP:0000486
8546	AP3B1	Posteriorly rotated ears	HP:0000358
8546	AP3B1	Acetabular dysplasia	HP:0008807
8546	AP3B1	Intellectual disability, mild	HP:0001256
8546	AP3B1	Hip dysplasia	HP:0001385
8546	AP3B1	Fair hair	HP:0002286
8546	AP3B1	Reduced visual acuity	HP:0007663
8546	AP3B1	Wide nasal bridge	HP:0000431
8546	AP3B1	Low-set ears	HP:0000369
8546	AP3B1	Motor delay	HP:0001270
8546	AP3B1	Visual impairment	HP:0000505
8546	AP3B1	Congenital onset	HP:0003577
8546	AP3B1	Microcephaly	HP:0000252
8546	AP3B1	Albinism	HP:0001022
8546	AP3B1	Nystagmus	HP:0000639
8546	AP3B1	Smooth philtrum	HP:0000319
355	FAS	Urticaria	HP:0001025
355	FAS	Cataract	HP:0000518
355	FAS	Autosomal dominant inheritance	HP:0000006
355	FAS	Myositis	HP:0100614
355	FAS	Meningitis	HP:0001287
355	FAS	Gait disturbance	HP:0001288
355	FAS	Confusion	HP:0001289
355	FAS	Arthralgia	HP:0002829
355	FAS	Vertigo	HP:0002321
355	FAS	Vitiligo	HP:0001045
355	FAS	Abnormal eyebrow morphology	HP:0000534
355	FAS	Migraine	HP:0002076
355	FAS	Hypopigmented skin patches	HP:0001053
355	FAS	Retinal detachment	HP:0000541
355	FAS	Antiphospholipid antibody positivity	HP:0003613
355	FAS	Weight loss	HP:0001824
355	FAS	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	HP:0002851
355	FAS	Increased proportion of HLA DR+ T cells	HP:0002853
355	FAS	Acne	HP:0001061
355	FAS	Retrobulbar optic neuritis	HP:0100654
355	FAS	Memory impairment	HP:0002354
355	FAS	Pleuritis	HP:0002102
355	FAS	Hemoptysis	HP:0002105
355	FAS	Pulmonary infiltrates	HP:0002113
355	FAS	Hyperreflexia	HP:0001347
355	FAS	Arterial thrombosis	HP:0004420
355	FAS	Venous thrombosis	HP:0004936
355	FAS	Developmental regression	HP:0002376
355	FAS	Vasculitis	HP:0002633
355	FAS	Paresthesia	HP:0003401
355	FAS	Keratoconjunctivitis sicca	HP:0001097
355	FAS	Cerebral ischemia	HP:0002637
355	FAS	Encephalitis	HP:0002383
355	FAS	Renal insufficiency	HP:0000083
355	FAS	Eosinophilia	HP:0001880
355	FAS	Abnormal pyramidal sign	HP:0007256
355	FAS	Arthritis	HP:0001369
355	FAS	Fatigue	HP:0012378
355	FAS	Papule	HP:0200034
355	FAS	Autoimmune hemolytic anemia	HP:0001890
355	FAS	Iron deficiency anemia	HP:0001891
355	FAS	Recurrent aphthous stomatitis	HP:0011107
355	FAS	Abnormal myocardium morphology	HP:0001637
355	FAS	Photophobia	HP:0000613
355	FAS	Blindness	HP:0000618
355	FAS	Rheumatoid factor positive	HP:0002923
355	FAS	Neutropenia in presence of anti-neutropil antibodies	HP:0001904
355	FAS	Mitral regurgitation	HP:0001653
355	FAS	Myocardial infarction	HP:0001658
355	FAS	Aortic regurgitation	HP:0001659
355	FAS	Antineutrophil antibody positivity	HP:0003453
355	FAS	Platelet antibody positive	HP:0003454
355	FAS	Abnormal blistering of the skin	HP:0008066
355	FAS	Avascular necrosis	HP:0010885
355	FAS	Sensorineural hearing impairment	HP:0000407
355	FAS	Gangrene	HP:0100758
355	FAS	Fever	HP:0001945
355	FAS	Pleural effusion	HP:0002202
355	FAS	Oral ulcer	HP:0000155
355	FAS	Reduced delayed hypersensitivity	HP:0002972
355	FAS	Lymphadenopathy	HP:0002716
355	FAS	Pulmonary embolism	HP:0002204
355	FAS	Sparse scalp hair	HP:0002209
355	FAS	Increased circulating IgG level	HP:0003237
355	FAS	Antinuclear antibody positivity	HP:0003493
355	FAS	Pericarditis	HP:0001701
355	FAS	Premature graying of hair	HP:0002216
355	FAS	Increased circulating IgM level	HP:0003496
355	FAS	Cranial nerve paralysis	HP:0006824
355	FAS	Follicular hyperplasia	HP:0002729
355	FAS	Chronic noninfectious lymphadenopathy	HP:0002730
355	FAS	Decreased lymphocyte apoptosis	HP:0002731
355	FAS	Autoimmune thrombocytopenia	HP:0001973
355	FAS	Increased circulating IgA level	HP:0003261
355	FAS	Orchitis	HP:0100796
355	FAS	Cognitive impairment	HP:0100543
355	FAS	Smooth muscle antibody positivity	HP:0003262
355	FAS	Gastrointestinal hemorrhage	HP:0002239
355	FAS	Hepatomegaly	HP:0002240
355	FAS	Pancreatitis	HP:0001733
355	FAS	Subcutaneous nodule	HP:0001482
355	FAS	Splenomegaly	HP:0001744
355	FAS	Increased intracranial pressure	HP:0002516
355	FAS	Glomerulopathy	HP:0100820
355	FAS	Irritability	HP:0000737
355	FAS	Nausea and vomiting	HP:0002017
355	FAS	Short stature	HP:0004322
355	FAS	Seizures	HP:0001250
355	FAS	Ataxia	HP:0001251
355	FAS	Immunologic hypersensitivity	HP:0100326
355	FAS	Malabsorption	HP:0002024
355	FAS	Retinopathy	HP:0000488
355	FAS	Endocarditis	HP:0100584
355	FAS	Abdominal pain	HP:0002027
355	FAS	Coombs-positive hemolytic anemia	HP:0004844
355	FAS	Poliosis	HP:0002290
355	FAS	Abnormal eyelash morphology	HP:0000499
355	FAS	Glaucoma	HP:0000501
355	FAS	Hemiparesis	HP:0001269
355	FAS	Anorexia	HP:0002039
355	FAS	Visual impairment	HP:0000505
355	FAS	Myalgia	HP:0003326
8547	FCN3	Immunodeficiency	HP:0002721
8547	FCN3	Recurrent abscess formation	HP:0002722
8547	FCN3	Autosomal recessive inheritance	HP:0000007
8547	FCN3	Verrucae	HP:0200043
8547	FCN3	Recurrent lower respiratory tract infections	HP:0002783
356	FASLG	Hepatomegaly	HP:0002240
356	FASLG	Urticaria	HP:0001025
356	FASLG	Autosomal dominant inheritance	HP:0000006
356	FASLG	Vasculitis	HP:0002633
356	FASLG	Splenomegaly	HP:0001744
356	FASLG	Eosinophilia	HP:0001880
356	FASLG	Reduced delayed hypersensitivity	HP:0002972
356	FASLG	Antiphospholipid antibody positivity	HP:0003613
356	FASLG	Autoimmune hemolytic anemia	HP:0001890
356	FASLG	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	HP:0002851
356	FASLG	Iron deficiency anemia	HP:0001891
356	FASLG	Increased circulating IgG level	HP:0003237
356	FASLG	Antinuclear antibody positivity	HP:0003493
356	FASLG	Increased proportion of HLA DR+ T cells	HP:0002853
356	FASLG	Increased circulating IgM level	HP:0003496
356	FASLG	Follicular hyperplasia	HP:0002729
356	FASLG	Chronic noninfectious lymphadenopathy	HP:0002730
356	FASLG	Decreased lymphocyte apoptosis	HP:0002731
356	FASLG	Rheumatoid factor positive	HP:0002923
356	FASLG	Coombs-positive hemolytic anemia	HP:0004844
356	FASLG	Neutropenia in presence of anti-neutropil antibodies	HP:0001904
356	FASLG	Autoimmune thrombocytopenia	HP:0001973
356	FASLG	Antineutrophil antibody positivity	HP:0003453
356	FASLG	Increased circulating IgA level	HP:0003261
356	FASLG	Platelet antibody positive	HP:0003454
356	FASLG	Smooth muscle antibody positivity	HP:0003262
359	AQP2	Feeding difficulties	HP:0011968
359	AQP2	Hypertonic dehydration	HP:0001986
359	AQP2	Autosomal dominant inheritance	HP:0000006
359	AQP2	Autosomal recessive inheritance	HP:0000007
359	AQP2	Hydroureter	HP:0000072
359	AQP2	Nephrogenic diabetes insipidus	HP:0009806
359	AQP2	Heterogeneous	HP:0001425
359	AQP2	Renal insufficiency	HP:0000083
359	AQP2	Megacystis	HP:0000021
359	AQP2	Hyposthenuria	HP:0003158
359	AQP2	Fever	HP:0001945
359	AQP2	Polyhydramnios	HP:0001561
359	AQP2	Hypernatremia	HP:0003228
359	AQP2	Vomiting	HP:0002013
359	AQP2	Nausea and vomiting	HP:0002017
359	AQP2	Irritability	HP:0000737
359	AQP2	Intellectual disability	HP:0001249
359	AQP2	Hypovolemia	HP:0011106
359	AQP2	Seizures	HP:0001250
359	AQP2	Short stature	HP:0004322
359	AQP2	Constipation	HP:0002019
359	AQP2	Unexplained fevers	HP:0001955
359	AQP2	Failure to thrive	HP:0001508
359	AQP2	Polydipsia	HP:0001959
359	AQP2	Neonatal onset	HP:0003623
359	AQP2	Polyuria	HP:0000103
359	AQP2	Feeding difficulties in infancy	HP:0008872
359	AQP2	Hypernatremic dehydration	HP:0004906
359	AQP2	Global developmental delay	HP:0001263
359	AQP2	Enuresis nocturna	HP:0010677
359	AQP2	Anorexia	HP:0002039
57704	GBA2	Cataract	HP:0000518
57704	GBA2	Autosomal recessive inheritance	HP:0000007
57704	GBA2	Cerebral atrophy	HP:0002059
57704	GBA2	Lower limb spasticity	HP:0002061
57704	GBA2	Spastic gait	HP:0002064
57704	GBA2	Gait ataxia	HP:0002066
57704	GBA2	Urinary incontinence	HP:0000020
57704	GBA2	Peripheral axonal neuropathy	HP:0003477
57704	GBA2	Infertility	HP:0000789
57704	GBA2	Sensorineural hearing impairment	HP:0000407
57704	GBA2	Progressive cerebellar ataxia	HP:0002073
57704	GBA2	Impaired vibration sensation at ankles	HP:0006938
57704	GBA2	Truncal ataxia	HP:0002078
57704	GBA2	Decreased testicular size	HP:0008734
57704	GBA2	Babinski sign	HP:0003487
57704	GBA2	Hypoplasia of the corpus callosum	HP:0002079
57704	GBA2	Spastic dysarthria	HP:0002464
57704	GBA2	Abnormal tendon morphology	HP:0100261
57704	GBA2	Head tremor	HP:0002346
57704	GBA2	Lower limb muscle weakness	HP:0007340
57704	GBA2	Reduced sperm motility	HP:0012207
57704	GBA2	Difficulty walking	HP:0002355
57704	GBA2	Ankle clonus	HP:0011448
57704	GBA2	Knee clonus	HP:0011449
57704	GBA2	Abnormal saccadic eye movements	HP:0000570
57704	GBA2	Sperm head anomaly	HP:0012865
57704	GBA2	Jerky ocular pursuit movements	HP:0008003
57704	GBA2	Hyperreflexia	HP:0001347
57704	GBA2	Brisk reflexes	HP:0001348
57704	GBA2	Upper limb dysmetria	HP:0020036
57704	GBA2	Cerebral cortical atrophy	HP:0002120
57704	GBA2	Upper limb spasticity	HP:0006986
57704	GBA2	Corpus callosum atrophy	HP:0007371
57704	GBA2	Impaired proprioception	HP:0010831
57704	GBA2	Dementia	HP:0000726
57704	GBA2	Broad-based gait	HP:0002136
57704	GBA2	Scoliosis	HP:0002650
57704	GBA2	Progressive	HP:0003676
57704	GBA2	Slow progression	HP:0003677
57704	GBA2	Dysphagia	HP:0002015
57704	GBA2	Pes cavus	HP:0001761
57704	GBA2	Intellectual disability	HP:0001249
57704	GBA2	Sensorimotor neuropathy	HP:0007141
57704	GBA2	Limb dysmetria	HP:0002406
57704	GBA2	Intellectual disability, mild	HP:0001256
57704	GBA2	Spastic paraplegia	HP:0001258
57704	GBA2	Dysarthria	HP:0001260
57704	GBA2	Distal amyotrophy	HP:0003693
57704	GBA2	Hearing impairment	HP:0000365
57704	GBA2	Impaired vibration sensation in the lower limbs	HP:0002166
57704	GBA2	Kyphosis	HP:0002808
57704	GBA2	Cerebellar atrophy	HP:0001272
57704	GBA2	Nystagmus	HP:0000639
362	AQP5	Papule	HP:0200034
362	AQP5	Abnormal blistering of the skin	HP:0008066
362	AQP5	Autosomal dominant inheritance	HP:0000006
362	AQP5	Skin ulcer	HP:0200042
362	AQP5	Diffuse palmoplantar keratoderma	HP:0007435
362	AQP5	Pruritus	HP:0000989
362	AQP5	Erythema	HP:0010783
8556	CDC14A	Abnormal sperm morphology	HP:0012864
8556	CDC14A	Infertility	HP:0000789
8556	CDC14A	Autosomal recessive inheritance	HP:0000007
8556	CDC14A	Hearing impairment	HP:0000365
8557	TCAP	EMG abnormality	HP:0003457
8557	TCAP	Increased connective tissue	HP:0009025
8557	TCAP	Foot dorsiflexor weakness	HP:0009027
8557	TCAP	Autosomal dominant inheritance	HP:0000006
8557	TCAP	Autosomal recessive inheritance	HP:0000007
8557	TCAP	Abnormality of neutrophils	HP:0001874
8557	TCAP	Calf muscle hypertrophy	HP:0008981
8557	TCAP	Palmoplantar keratoderma	HP:0000982
8557	TCAP	Difficulty running	HP:0009046
8557	TCAP	Sensorineural hearing impairment	HP:0000407
8557	TCAP	Areflexia of lower limbs	HP:0002522
8557	TCAP	Rimmed vacuoles	HP:0003805
8557	TCAP	Distal lower limb muscle weakness	HP:0009053
8557	TCAP	Difficulty climbing stairs	HP:0003551
8557	TCAP	Proximal muscle weakness in lower limbs	HP:0008994
8557	TCAP	Lipoatrophy	HP:0100578
8557	TCAP	Elevated serum creatine kinase	HP:0003236
8557	TCAP	Increased variability in muscle fiber diameter	HP:0003557
8557	TCAP	Proximal muscle weakness in upper limbs	HP:0008997
8557	TCAP	Muscular dystrophy	HP:0003560
8557	TCAP	Dilated cardiomyopathy	HP:0001644
8557	TCAP	Distal lower limb amyotrophy	HP:0008944
8557	TCAP	Left ventricular hypertrophy	HP:0001712
8557	TCAP	Difficulty walking	HP:0002355
8557	TCAP	Proximal upper limb amyotrophy	HP:0008948
8557	TCAP	Wolff-Parkinson-White syndrome	HP:0001716
8557	TCAP	Myopathy	HP:0003198
57709	SLC7A14	Abnormal electroretinogram	HP:0000512
57709	SLC7A14	Hyperreflexia	HP:0001347
57709	SLC7A14	Cataract	HP:0000518
57709	SLC7A14	Hypogonadism	HP:0000135
57709	SLC7A14	Autosomal recessive inheritance	HP:0000007
57709	SLC7A14	Optic atrophy	HP:0000648
57709	SLC7A14	Hyperinsulinemia	HP:0000842
57709	SLC7A14	Anteverted nares	HP:0000463
57709	SLC7A14	Retinal atrophy	HP:0001105
57709	SLC7A14	Conductive hearing impairment	HP:0000405
57709	SLC7A14	Nyctalopia	HP:0000662
57709	SLC7A14	Sensorineural hearing impairment	HP:0000407
57709	SLC7A14	Abnormality of retinal pigmentation	HP:0007703
57709	SLC7A14	Ophthalmoplegia	HP:0000602
57709	SLC7A14	Type II diabetes mellitus	HP:0005978
57709	SLC7A14	Atypical scarring of skin	HP:0000987
57709	SLC7A14	Hypoplasia of penis	HP:0008736
57709	SLC7A14	Intellectual disability	HP:0001249
57709	SLC7A14	Abnormal testis morphology	HP:0000035
57709	SLC7A14	Visual field defect	HP:0001123
57709	SLC7A14	Photophobia	HP:0000613
57709	SLC7A14	Obesity	HP:0001513
57709	SLC7A14	Blindness	HP:0000618
57709	SLC7A14	Abnormal retinal vascular morphology	HP:0008046
57709	SLC7A14	Wide nasal bridge	HP:0000431
57709	SLC7A14	Keratoconus	HP:0000563
57709	SLC7A14	Glaucoma	HP:0000501
57709	SLC7A14	Progressive night blindness	HP:0007675
57709	SLC7A14	Rod-cone dystrophy	HP:0000510
57709	SLC7A14	Nystagmus	HP:0000639
8558	CDK10	Postnatal growth retardation	HP:0008897
8558	CDK10	Decreased head circumference	HP:0040195
8558	CDK10	Clinodactyly	HP:0030084
8558	CDK10	Triangular face	HP:0000325
8558	CDK10	Autosomal recessive inheritance	HP:0000007
8558	CDK10	Broad nasal tip	HP:0000455
8558	CDK10	Short chin	HP:0000331
8558	CDK10	High, narrow palate	HP:0002705
8558	CDK10	Malar rash	HP:0025300
8558	CDK10	Long philtrum	HP:0000343
8558	CDK10	Broad-based gait	HP:0002136
8558	CDK10	Synophrys	HP:0000664
8558	CDK10	Thin upper lip vermilion	HP:0000219
8558	CDK10	Epicanthus	HP:0000286
8558	CDK10	Hypoplasia of the corpus callosum	HP:0002079
8558	CDK10	Depressed nasal bridge	HP:0005280
8558	CDK10	Intellectual disability	HP:0001249
8558	CDK10	Seizures	HP:0001250
8558	CDK10	Short stature	HP:0004322
8558	CDK10	Macrodontia	HP:0001572
8558	CDK10	Decreased body weight	HP:0004325
8558	CDK10	Posteriorly rotated ears	HP:0000358
8558	CDK10	Intrauterine growth retardation	HP:0001511
8558	CDK10	Downslanted palpebral fissures	HP:0000494
8558	CDK10	Delayed speech and language development	HP:0000750
8558	CDK10	Deep palmar crease	HP:0006191
8558	CDK10	Wide nasal bridge	HP:0000431
8558	CDK10	Global developmental delay	HP:0001263
8558	CDK10	Low-set ears	HP:0000369
8558	CDK10	Pointed chin	HP:0000307
8558	CDK10	Small hand	HP:0200055
8558	CDK10	Nevus flammeus of the forehead	HP:0007413
8558	CDK10	Brachycephaly	HP:0000248
8558	CDK10	Hemivertebrae	HP:0002937
8558	CDK10	Abnormality of the pinna	HP:0000377
8558	CDK10	Telecanthus	HP:0000506
8558	CDK10	Hypertelorism	HP:0000316
8558	CDK10	Smooth philtrum	HP:0000319
367	AR	Skeletal muscle atrophy	HP:0003202
367	AR	Gynecomastia	HP:0000771
367	AR	Bulbar palsy	HP:0001283
367	AR	Hypogonadism	HP:0000135
367	AR	Gait disturbance	HP:0001288
367	AR	X-linked recessive inheritance	HP:0001419
367	AR	Abnormality of the rib cage	HP:0001547
367	AR	Decreased fertility	HP:0000144
367	AR	Primary amenorrhea	HP:0000786
367	AR	Nephrolithiasis	HP:0000787
367	AR	Infertility	HP:0000789
367	AR	Calf muscle hypertrophy	HP:0008981
367	AR	Aplasia of the uterus	HP:0000151
367	AR	Inguinal hernia	HP:0000023
367	AR	Abnormality of the mouth	HP:0000153
367	AR	Female external genitalia in individual with 46,XY karyotype	HP:0008730
367	AR	Azoospermia	HP:0000027
367	AR	Cryptorchidism	HP:0000028
367	AR	Testicular atrophy	HP:0000029
367	AR	Testicular gonadoblastoma	HP:0000030
367	AR	Erectile abnormalities	HP:0100639
367	AR	Gonadal neoplasm	HP:0010785
367	AR	Elevated serum creatine kinase	HP:0003236
367	AR	Male pseudohermaphroditism	HP:0000037
367	AR	Sparse axillary hair	HP:0002215
367	AR	Elevated circulating follicle stimulating hormone level	HP:0008232
367	AR	Osteoporosis	HP:0000939
367	AR	Absent axillary hair	HP:0002221
367	AR	Hypospadias	HP:0000047
367	AR	Abnormal circulating lipid concentration	HP:0003119
367	AR	Bifid scrotum	HP:0000048
367	AR	Sparse pubic hair	HP:0002225
367	AR	Perineal hypospadias	HP:0000051
367	AR	Micropenis	HP:0000054
367	AR	Tremor	HP:0001337
367	AR	Elevated circulating luteinizing hormone level	HP:0011969
367	AR	Muscle spasm	HP:0003394
367	AR	Labial hypoplasia	HP:0000066
367	AR	Absent vas deferens	HP:0012873
367	AR	Fasciculations	HP:0002380
367	AR	Aplasia/Hypoplasia of the fallopian tube	HP:0008655
367	AR	Dysphonia	HP:0001618
367	AR	Female pseudohermaphroditism	HP:0010458
367	AR	Type II diabetes mellitus	HP:0005978
367	AR	Slow progression	HP:0003677
367	AR	Dysphagia	HP:0002015
367	AR	Growth abnormality	HP:0001507
367	AR	Muscular hypotonia	HP:0001252
367	AR	Peripheral neuropathy	HP:0009830
367	AR	Neoplasm	HP:0002664
367	AR	Limb muscle weakness	HP:0003690
367	AR	Dysarthria	HP:0001260
367	AR	Hyporeflexia	HP:0001265
367	AR	Absent facial hair	HP:0002550
367	AR	Blind vagina	HP:0040314
367	AR	Absent pubic hair	HP:0002555
367	AR	Sensory neuropathy	HP:0000763
367	AR	Adult onset	HP:0003581
368	ABCC6	Autosomal dominant inheritance	HP:0000006
368	ABCC6	Autosomal recessive inheritance	HP:0000007
368	ABCC6	Hypermelanotic macule	HP:0001034
368	ABCC6	Angina pectoris	HP:0001681
368	ABCC6	High, narrow palate	HP:0002705
368	ABCC6	Stroke	HP:0001297
368	ABCC6	Hemiplegia/hemiparesis	HP:0004374
368	ABCC6	Abnormality of the mouth	HP:0000153
368	ABCC6	Civatte bodies	HP:0025115
368	ABCC6	Myopia	HP:0000545
368	ABCC6	Yellow papule	HP:0025507
368	ABCC6	Acne	HP:0001061
368	ABCC6	Striae distensae	HP:0001065
368	ABCC6	Medial calcification of medium-sized arteries	HP:0012457
368	ABCC6	Hypophosphatemic rickets	HP:0004912
368	ABCC6	Premature occlusive vascular stenosis	HP:0005297
368	ABCC6	Abnormality of the cerebral vasculature	HP:0100659
368	ABCC6	Hypothyroidism	HP:0000821
368	ABCC6	Coronary artery calcification	HP:0001717
368	ABCC6	Hypertension	HP:0000822
368	ABCC6	Mitral stenosis	HP:0001718
368	ABCC6	Dilatation	HP:0002617
368	ABCC6	Restrictive cardiomyopathy	HP:0001723
368	ABCC6	Joint hyperflexibility	HP:0005692
368	ABCC6	Retinal hemorrhage	HP:0000573
368	ABCC6	Atherosclerosis	HP:0002621
368	ABCC6	Peau d'orange	HP:0025533
368	ABCC6	Cerebral hemorrhage	HP:0001342
368	ABCC6	Gastrointestinal hemorrhage	HP:0002239
368	ABCC6	Arterial stenosis	HP:0100545
368	ABCC6	Intermittent claudication	HP:0004417
368	ABCC6	Subcutaneous nodule	HP:0001482
368	ABCC6	Arteriosclerosis	HP:0002634
368	ABCC6	Hyperextensible skin	HP:0000974
368	ABCC6	Angioid streaks of the fundus	HP:0001102
368	ABCC6	Accelerated atherosclerosis	HP:0004943
368	ABCC6	Abnormal thrombocyte morphology	HP:0001872
368	ABCC6	Blue sclerae	HP:0000592
368	ABCC6	Renovascular hypertension	HP:0100817
368	ABCC6	Abnormal endocardium morphology	HP:0004306
368	ABCC6	Cerebral calcification	HP:0002514
368	ABCC6	Bruising susceptibility	HP:0000978
368	ABCC6	Renal insufficiency	HP:0000083
368	ABCC6	Calcification of falx cerebri	HP:0005462
368	ABCC6	Scoliosis	HP:0002650
368	ABCC6	High palate	HP:0000218
368	ABCC6	Thickened nuchal skin fold	HP:0000474
368	ABCC6	Skin rash	HP:0000988
368	ABCC6	Metamorphopsia	HP:0012508
368	ABCC6	Pruritus	HP:0000989
368	ABCC6	Excessive wrinkled skin	HP:0007392
368	ABCC6	Macular degeneration	HP:0000608
368	ABCC6	Mitral valve prolapse	HP:0001634
368	ABCC6	Congestive heart failure	HP:0001635
368	ABCC6	Medial calcification of large arteries	HP:0004966
368	ABCC6	Retinopathy	HP:0000488
368	ABCC6	Telangiectasia of the skin	HP:0100585
368	ABCC6	Sudden cardiac death	HP:0001645
368	ABCC6	Reduced visual acuity	HP:0007663
368	ABCC6	Choroidal neovascularization	HP:0011506
368	ABCC6	Multiple lipomas	HP:0001012
368	ABCC6	Drusen	HP:0011510
368	ABCC6	Kyphosis	HP:0002808
368	ABCC6	Nephrocalcinosis	HP:0000121
368	ABCC6	Visual impairment	HP:0000505
368	ABCC6	Myocardial infarction	HP:0001658
368	ABCC6	Postural instability	HP:0002172
368	ABCC6	Abnormality of the thorax	HP:0000765
368	ABCC6	Abnormality of the sternum	HP:0000766
57716	PRX	Skeletal muscle atrophy	HP:0003202
57716	PRX	Foot dorsiflexor weakness	HP:0009027
57716	PRX	Areflexia	HP:0001284
57716	PRX	Vocal cord paresis	HP:0001604
57716	PRX	Autosomal dominant inheritance	HP:0000006
57716	PRX	Autosomal recessive inheritance	HP:0000007
57716	PRX	Basal lamina onion bulb formation	HP:0003400
57716	PRX	Infantile onset	HP:0003593
57716	PRX	Generalized hypotonia	HP:0001290
57716	PRX	Heterogeneous	HP:0001425
57716	PRX	Split hand	HP:0001171
57716	PRX	Peripheral demyelination	HP:0011096
57716	PRX	Segmental peripheral demyelination/remyelination	HP:0003481
57716	PRX	Ulnar claw	HP:0001178
57716	PRX	Scoliosis	HP:0002650
57716	PRX	Distal muscle weakness	HP:0002460
57716	PRX	Slow progression	HP:0003677
57716	PRX	Pes cavus	HP:0001761
57716	PRX	Muscular hypotonia	HP:0001252
57716	PRX	Hammertoe	HP:0001765
57716	PRX	Decreased motor nerve conduction velocity	HP:0003431
57716	PRX	Increased CSF protein	HP:0002922
57716	PRX	Limb muscle weakness	HP:0003690
57716	PRX	Distal amyotrophy	HP:0003693
57716	PRX	Steppage gait	HP:0003376
57716	PRX	Hyporeflexia	HP:0001265
57716	PRX	Difficulty walking	HP:0002355
57716	PRX	Variable expressivity	HP:0003828
57716	PRX	Decreased number of peripheral myelinated nerve fibers	HP:0003380
57716	PRX	Hypertrophic nerve changes	HP:0003382
57716	PRX	Motor delay	HP:0001270
57716	PRX	Sensory ataxia	HP:0010871
57716	PRX	Onion bulb formation	HP:0003383
57716	PRX	Distal sensory impairment	HP:0002936
57716	PRX	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
57716	PRX	Kyphoscoliosis	HP:0002751
57716	PRX	Nystagmus	HP:0000639
372	ARCN1	Feeding difficulties	HP:0011968
372	ARCN1	Autosomal dominant inheritance	HP:0000006
372	ARCN1	Metaphyseal widening	HP:0003016
372	ARCN1	Rhizomelia	HP:0008905
372	ARCN1	Scaphocephaly	HP:0030799
372	ARCN1	Gait ataxia	HP:0002066
372	ARCN1	2-3 toe syndactyly	HP:0004691
372	ARCN1	Retrognathia	HP:0000278
372	ARCN1	Hypotelorism	HP:0000601
372	ARCN1	High palate	HP:0000218
372	ARCN1	Micrognathia	HP:0000347
372	ARCN1	Ventricular septal defect	HP:0001629
372	ARCN1	Broad femoral neck	HP:0006429
372	ARCN1	Intellectual disability	HP:0001249
372	ARCN1	Myopia	HP:0000545
372	ARCN1	Seizures	HP:0001250
372	ARCN1	Astigmatism	HP:0000483
372	ARCN1	Failure to thrive	HP:0001508
372	ARCN1	Intrauterine growth retardation	HP:0001511
372	ARCN1	Scrotal hypoplasia	HP:0000046
372	ARCN1	Cleft palate	HP:0000175
372	ARCN1	Hypospadias	HP:0000047
372	ARCN1	Accelerated skeletal maturation	HP:0005616
372	ARCN1	Coxa valga	HP:0002673
372	ARCN1	Motor delay	HP:0001270
372	ARCN1	Micropenis	HP:0000054
372	ARCN1	Obstructive sleep apnea	HP:0002870
372	ARCN1	Microcephaly	HP:0000252
8565	YARS	Abnormality of the foot	HP:0001760
8565	YARS	Heterogeneous	HP:0001425
8565	YARS	Autosomal dominant inheritance	HP:0000006
8565	YARS	Distal sensory impairment	HP:0002936
8565	YARS	Axonal regeneration	HP:0003450
8565	YARS	Upper limb muscle weakness	HP:0003484
8565	YARS	Distal muscle weakness	HP:0002460
8565	YARS	Distal amyotrophy	HP:0003693
375	ARF1	Delayed myelination	HP:0012448
375	ARF1	Seizures	HP:0001250
375	ARF1	Spasticity	HP:0001257
375	ARF1	Delayed speech and language development	HP:0000750
57724	EPG5	Cataract	HP:0000518
57724	EPG5	Developmental cataract	HP:0000519
57724	EPG5	Autosomal recessive inheritance	HP:0000007
57724	EPG5	Optic atrophy	HP:0000648
57724	EPG5	Abnormality of the thymus	HP:0000777
57724	EPG5	Generalized hypotonia	HP:0001290
57724	EPG5	Schizencephaly	HP:0010636
57724	EPG5	Cutaneous anergy	HP:0002965
57724	EPG5	Acidosis	HP:0001941
57724	EPG5	Sensorineural hearing impairment	HP:0000407
57724	EPG5	Abnormality of retinal pigmentation	HP:0007703
57724	EPG5	Recurrent fungal infections	HP:0002841
57724	EPG5	Renal tubular acidosis	HP:0001947
57724	EPG5	Decreased circulating IgG2 level	HP:0008348
57724	EPG5	Recurrent respiratory infections	HP:0002205
57724	EPG5	Recurrent bacterial infections	HP:0002718
57724	EPG5	Decreased proportion of CD4-positive T cells	HP:0005407
57724	EPG5	Immunodeficiency	HP:0002721
57724	EPG5	Cerebellar vermis hypoplasia	HP:0001320
57724	EPG5	Chronic mucocutaneous candidiasis	HP:0002728
57724	EPG5	Feeding difficulties in infancy	HP:0008872
57724	EPG5	Cerebellar hypoplasia	HP:0001321
57724	EPG5	Decreased T cell activation	HP:0005419
57724	EPG5	Penile hypospadias	HP:0003244
57724	EPG5	Cleft palate	HP:0000175
57724	EPG5	Left ventricular hypertrophy	HP:0001712
57724	EPG5	EEG abnormality	HP:0002353
57724	EPG5	Depressed nasal tip	HP:0000437
57724	EPG5	Sleep disturbance	HP:0002360
57724	EPG5	Hypertelorism	HP:0000316
57724	EPG5	Cerebral cortical atrophy	HP:0002120
57724	EPG5	Cleft upper lip	HP:0000204
57724	EPG5	Recurrent viral infections	HP:0004429
57724	EPG5	Hypoplasia of the pons	HP:0012110
57724	EPG5	Abnormal macular morphology	HP:0001103
57724	EPG5	Ocular albinism	HP:0001107
57724	EPG5	Hypopigmentation of the fundus	HP:0007894
57724	EPG5	Hypotelorism	HP:0000601
57724	EPG5	High palate	HP:0000218
57724	EPG5	Decreased circulating IgG level	HP:0004315
57724	EPG5	Micrognathia	HP:0000347
57724	EPG5	Hypopigmentation of hair	HP:0005599
57724	EPG5	Intellectual disability	HP:0001249
57724	EPG5	Seizures	HP:0001250
57724	EPG5	Short stature	HP:0004322
57724	EPG5	Congestive heart failure	HP:0001635
57724	EPG5	Failure to thrive	HP:0001508
57724	EPG5	Muscular hypotonia	HP:0001252
57724	EPG5	Abnormal posturing	HP:0002533
57724	EPG5	Cardiomyopathy	HP:0001638
57724	EPG5	Growth delay	HP:0001510
57724	EPG5	Gray matter heterotopia	HP:0002282
57724	EPG5	Joint stiffness	HP:0001387
57724	EPG5	Dilated cardiomyopathy	HP:0001644
57724	EPG5	Global developmental delay	HP:0001263
57724	EPG5	Ureteral atresia	HP:0005999
57724	EPG5	Low-set ears	HP:0000369
57724	EPG5	Hypopigmentation of the skin	HP:0001010
57724	EPG5	Death in infancy	HP:0001522
57724	EPG5	Motor delay	HP:0001270
57724	EPG5	Congenital onset	HP:0003577
57724	EPG5	Agenesis of corpus callosum	HP:0001274
57724	EPG5	Microcephaly	HP:0000252
57724	EPG5	Albinism	HP:0001022
57724	EPG5	Myopathy	HP:0003198
57724	EPG5	Cellular immunodeficiency	HP:0005374
57724	EPG5	Nystagmus	HP:0000639
8573	CASK	Reticulocytosis	HP:0001923
8573	CASK	Cataract	HP:0000518
8573	CASK	Optic atrophy	HP:0000648
8573	CASK	Gait disturbance	HP:0001288
8573	CASK	Anisocytosis	HP:0011273
8573	CASK	X-linked inheritance	HP:0001417
8573	CASK	Generalized hypotonia	HP:0001290
8573	CASK	X-linked recessive inheritance	HP:0001419
8573	CASK	Rigidity	HP:0002063
8573	CASK	X-linked dominant inheritance	HP:0001423
8573	CASK	Macrotia	HP:0000400
8573	CASK	Dilated fourth ventricle	HP:0002198
8573	CASK	Sensorineural hearing impairment	HP:0000407
8573	CASK	Epicanthus	HP:0000286
8573	CASK	Optic disc pallor	HP:0000543
8573	CASK	Myopia	HP:0000545
8573	CASK	Intellectual disability, moderate	HP:0002342
8573	CASK	Neonatal hypotonia	HP:0001319
8573	CASK	Feeding difficulties in infancy	HP:0008872
8573	CASK	Cerebellar hypoplasia	HP:0001321
8573	CASK	Prominent nasal bridge	HP:0000426
8573	CASK	Oval face	HP:0000300
8573	CASK	Muscle weakness	HP:0001324
8573	CASK	Wide nasal bridge	HP:0000431
8573	CASK	Prolonged neonatal jaundice	HP:0006579
8573	CASK	Leukocytosis	HP:0001974
8573	CASK	Chorioretinal coloboma	HP:0000567
8573	CASK	Hemoglobinuria	HP:0003641
8573	CASK	Macrogyria	HP:0007227
8573	CASK	Hypertelorism	HP:0000316
8573	CASK	Absent speech	HP:0001344
8573	CASK	Postnatal growth retardation	HP:0008897
8573	CASK	Abnormally large globe	HP:0001090
8573	CASK	Hyperreflexia	HP:0001347
8573	CASK	Hypohidrosis	HP:0000966
8573	CASK	Broad nasal tip	HP:0000455
8573	CASK	Cerebral cortical atrophy	HP:0002120
8573	CASK	Fava bean-induced hemolytic anemia	HP:0004814
8573	CASK	Severe global developmental delay	HP:0011344
8573	CASK	Broad forehead	HP:0000337
8573	CASK	Pallor	HP:0000980
8573	CASK	Prominent forehead	HP:0011220
8573	CASK	Long philtrum	HP:0000343
8573	CASK	Unconjugated hyperbilirubinemia	HP:0008282
8573	CASK	Scoliosis	HP:0002650
8573	CASK	High palate	HP:0000218
8573	CASK	Micrognathia	HP:0000347
8573	CASK	Poikilocytosis	HP:0004447
8573	CASK	Optic nerve hypoplasia	HP:0000609
8573	CASK	Intellectual disability	HP:0001249
8573	CASK	Seizures	HP:0001250
8573	CASK	Short stature	HP:0004322
8573	CASK	Failure to thrive	HP:0001508
8573	CASK	Decreased body weight	HP:0004325
8573	CASK	Strabismus	HP:0000486
8573	CASK	Muscular hypotonia of the trunk	HP:0008936
8573	CASK	Spasticity	HP:0001257
8573	CASK	Global developmental delay	HP:0001263
8573	CASK	Visual impairment	HP:0000505
8573	CASK	Microcephaly	HP:0000252
8573	CASK	Short nose	HP:0003196
8573	CASK	Progressive microcephaly	HP:0000253
8573	CASK	Nystagmus	HP:0000639
123263	MTFMT	Hyperreflexia	HP:0001347
123263	MTFMT	Pigmentary retinopathy	HP:0000580
123263	MTFMT	Abnormality of the cerebral white matter	HP:0002500
123263	MTFMT	Incoordination	HP:0002311
123263	MTFMT	Autosomal recessive inheritance	HP:0000007
123263	MTFMT	Optic atrophy	HP:0000648
123263	MTFMT	Emotional lability	HP:0000712
123263	MTFMT	Infantile onset	HP:0003593
123263	MTFMT	Generalized hypotonia	HP:0001290
123263	MTFMT	Decreased activity of mitochondrial respiratory chain	HP:0008972
123263	MTFMT	Unsteady gait	HP:0002317
123263	MTFMT	Focal T2 hyperintense basal ganglia lesion	HP:0007183
123263	MTFMT	Ventricular septal hypertrophy	HP:0005144
123263	MTFMT	Abnormal pyramidal sign	HP:0007256
123263	MTFMT	Progressive cerebellar ataxia	HP:0002073
123263	MTFMT	Ophthalmoplegia	HP:0000602
123263	MTFMT	Ventricular septal defect	HP:0001629
123263	MTFMT	Seizures	HP:0001250
123263	MTFMT	Short stature	HP:0004322
123263	MTFMT	Ataxia	HP:0001251
123263	MTFMT	Failure to thrive	HP:0001508
123263	MTFMT	Muscular hypotonia	HP:0001252
123263	MTFMT	Strabismus	HP:0000486
123263	MTFMT	Hypertrichosis	HP:0000998
123263	MTFMT	Peripheral neuropathy	HP:0009830
123263	MTFMT	Increased serum lactate	HP:0002151
123263	MTFMT	Hypertrophic cardiomyopathy	HP:0001639
123263	MTFMT	Spasticity	HP:0001257
123263	MTFMT	Obesity	HP:0001513
123263	MTFMT	Progressive spastic paraplegia	HP:0007020
123263	MTFMT	Dysarthria	HP:0001260
123263	MTFMT	Hearing impairment	HP:0000365
123263	MTFMT	Delayed speech and language development	HP:0000750
123263	MTFMT	Global developmental delay	HP:0001263
123263	MTFMT	Anemia	HP:0001903
123263	MTFMT	Leukodystrophy	HP:0002415
123263	MTFMT	Reduced visual acuity	HP:0007663
123263	MTFMT	Intellectual disability, severe	HP:0010864
123263	MTFMT	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
123263	MTFMT	Dystonia	HP:0001332
123263	MTFMT	Wolff-Parkinson-White syndrome	HP:0001716
123263	MTFMT	Apnea	HP:0002104
123263	MTFMT	Tremor	HP:0001337
123263	MTFMT	Increased CSF lactate	HP:0002490
123263	MTFMT	Ptosis	HP:0000508
123263	MTFMT	Microcephaly	HP:0000252
123263	MTFMT	Cognitive impairment	HP:0100543
123263	MTFMT	Nystagmus	HP:0000639
383	ARG1	Intellectual disability	HP:0001249
383	ARG1	Postnatal growth retardation	HP:0008897
383	ARG1	Irritability	HP:0000737
383	ARG1	Seizures	HP:0001250
383	ARG1	Hyperammonemia	HP:0001987
383	ARG1	Behavioral abnormality	HP:0000708
383	ARG1	Autosomal recessive inheritance	HP:0000007
383	ARG1	Progressive spastic quadriplegia	HP:0002478
383	ARG1	Global developmental delay	HP:0001263
383	ARG1	Hyperactivity	HP:0000752
383	ARG1	Intellectual disability, severe	HP:0010864
383	ARG1	EEG abnormality	HP:0002353
383	ARG1	Oroticaciduria	HP:0003218
383	ARG1	Diaminoaciduria	HP:0008339
383	ARG1	Hemiplegia/hemiparesis	HP:0004374
383	ARG1	Anorexia	HP:0002039
383	ARG1	Neurological speech impairment	HP:0002167
383	ARG1	Vomiting	HP:0002013
8575	PRKRA	Hyperreflexia	HP:0001347
8575	PRKRA	Orofacial dyskinesia	HP:0002310
8575	PRKRA	Autosomal recessive inheritance	HP:0000007
8575	PRKRA	Gait disturbance	HP:0001288
8575	PRKRA	Unsteady gait	HP:0002317
8575	PRKRA	Morphological abnormality of the pyramidal tract	HP:0002062
8575	PRKRA	Laryngeal dystonia	HP:0012049
8575	PRKRA	Involuntary movements	HP:0004305
8575	PRKRA	Dysphonia	HP:0001618
8575	PRKRA	Limb dystonia	HP:0002451
8575	PRKRA	Bradykinesia	HP:0002067
8575	PRKRA	Parkinsonism	HP:0001300
8575	PRKRA	Abnormal pyramidal sign	HP:0007256
8575	PRKRA	Torticollis	HP:0000473
8575	PRKRA	Progressive	HP:0003676
8575	PRKRA	Dysphagia	HP:0002015
8575	PRKRA	Intellectual disability	HP:0001249
8575	PRKRA	Lower limb pain	HP:0012514
8575	PRKRA	Limb pain	HP:0009763
8575	PRKRA	Dysarthria	HP:0001260
8575	PRKRA	Delayed speech and language development	HP:0000750
8575	PRKRA	Retrocollis	HP:0002544
8575	PRKRA	Dyskinesia	HP:0100660
8575	PRKRA	Motor delay	HP:0001270
8575	PRKRA	Postural tremor	HP:0002174
8575	PRKRA	Cognitive impairment	HP:0100543
57728	WDR19	Short iliac bones	HP:0100866
57728	WDR19	Recurrent pneumonia	HP:0006532
57728	WDR19	Brachydactyly	HP:0001156
57728	WDR19	Abnormality of the ribs	HP:0000772
57728	WDR19	Cataract	HP:0000518
57728	WDR19	Narrow chest	HP:0000774
57728	WDR19	Sparse hair	HP:0008070
57728	WDR19	Autosomal recessive inheritance	HP:0000007
57728	WDR19	Chronic tubulointerstitial nephritis	HP:0004743
57728	WDR19	Postaxial hand polydactyly	HP:0001162
57728	WDR19	Dolichocephaly	HP:0000268
57728	WDR19	Prominent occiput	HP:0000269
57728	WDR19	Premature ovarian insufficiency	HP:0008209
57728	WDR19	Progressive visual loss	HP:0000529
57728	WDR19	Pes valgus	HP:0008081
57728	WDR19	Abnormality of retinal pigmentation	HP:0007703
57728	WDR19	Inguinal hernia	HP:0000023
57728	WDR19	Bone marrow hypocellularity	HP:0005528
57728	WDR19	Short distal phalanx of finger	HP:0009882
57728	WDR19	Protruding ear	HP:0000411
57728	WDR19	Hypermetropia	HP:0000540
57728	WDR19	Hypodontia	HP:0000668
57728	WDR19	Epicanthus	HP:0000286
57728	WDR19	Myopia	HP:0000545
57728	WDR19	Full cheeks	HP:0000293
57728	WDR19	Postaxial foot polydactyly	HP:0001830
57728	WDR19	Micromelia	HP:0002983
57728	WDR19	Taurodontia	HP:0000679
57728	WDR19	Feeding difficulties in infancy	HP:0008872
57728	WDR19	Abnormality of dental enamel	HP:0000682
57728	WDR19	Osteoporosis	HP:0000939
57728	WDR19	Retinal dystrophy	HP:0000556
57728	WDR19	Abnormal diaphysis morphology	HP:0000940
57728	WDR19	Respiratory insufficiency	HP:0002093
57728	WDR19	Aplasia/Hypoplasia of the lungs	HP:0006703
57728	WDR19	Abnormality of the metaphysis	HP:0000944
57728	WDR19	Mild proteinuria	HP:0012595
57728	WDR19	Microdontia	HP:0000691
57728	WDR19	High hypermetropia	HP:0008499
57728	WDR19	Congenital hepatic fibrosis	HP:0002612
57728	WDR19	Hypertension	HP:0000822
57728	WDR19	Dilatation	HP:0002617
57728	WDR19	Cutaneous finger syndactyly	HP:0010554
57728	WDR19	Elevated serum creatinine	HP:0003259
57728	WDR19	Joint hyperflexibility	HP:0005692
57728	WDR19	Stage 5 chronic kidney disease	HP:0003774
57728	WDR19	Broad phalanx of the toes	HP:0010174
57728	WDR19	Smooth philtrum	HP:0000319
57728	WDR19	Short thorax	HP:0010306
57728	WDR19	Abnormal toenail morphology	HP:0008388
57728	WDR19	Ectodermal dysplasia	HP:0000968
57728	WDR19	Metaphyseal widening	HP:0003016
57728	WDR19	Pancreatic cysts	HP:0001737
57728	WDR19	Rhizomelia	HP:0008905
57728	WDR19	Polydactyly	HP:0010442
57728	WDR19	Cutis laxa	HP:0000973
57728	WDR19	Abnormal fingernail morphology	HP:0001231
57728	WDR19	Anteverted nares	HP:0000463
57728	WDR19	Cone-shaped epiphysis	HP:0010579
57728	WDR19	Renal insufficiency	HP:0000083
57728	WDR19	Craniosynostosis	HP:0001363
57728	WDR19	Pallor	HP:0000980
57728	WDR19	Abnormality of pelvic girdle bone morphology	HP:0002644
57728	WDR19	Finger syndactyly	HP:0006101
57728	WDR19	Frontal bossing	HP:0002007
57728	WDR19	Renal hypoplasia	HP:0000089
57728	WDR19	Hypotelorism	HP:0000601
57728	WDR19	Nephronophthisis	HP:0000090
57728	WDR19	Sagittal craniosynostosis	HP:0004442
57728	WDR19	Thin upper lip vermilion	HP:0000219
57728	WDR19	Skeletal dysplasia	HP:0002652
57728	WDR19	Proteinuria	HP:0000093
57728	WDR19	Short stature	HP:0004322
57728	WDR19	Ataxia	HP:0001251
57728	WDR19	Glomerulonephritis	HP:0000099
57728	WDR19	Joint hypermobility	HP:0001382
57728	WDR19	Everted lower lip vermilion	HP:0000232
57728	WDR19	Macular atrophy	HP:0007401
57728	WDR19	Hip dysplasia	HP:0001385
57728	WDR19	Thin vermilion border	HP:0000233
57728	WDR19	Toe syndactyly	HP:0001770
57728	WDR19	Broad distal phalanx of finger	HP:0009836
57728	WDR19	Short foot	HP:0001773
57728	WDR19	Reduced visual acuity	HP:0007663
57728	WDR19	Global developmental delay	HP:0001263
57728	WDR19	Nephropathy	HP:0000112
57728	WDR19	Abnormality of the liver	HP:0001392
57728	WDR19	Clinodactyly of the 5th finger	HP:0004209
57728	WDR19	Thoracic dysplasia	HP:0006644
57728	WDR19	Abnormality of the clavicle	HP:0000889
57728	WDR19	Abnormality of bone mineral density	HP:0004348
57728	WDR19	Rod-cone dystrophy	HP:0000510
57728	WDR19	Abnormality of the sternum	HP:0000766
57728	WDR19	Hepatic cysts	HP:0001407
57728	WDR19	Pectus excavatum	HP:0000767
57728	WDR19	Nystagmus	HP:0000639
57731	SPTBN4	Absent speech	HP:0001344
57731	SPTBN4	Seizures	HP:0001250
57731	SPTBN4	Demyelinating peripheral neuropathy	HP:0007108
57731	SPTBN4	Generalized amyotrophy	HP:0003700
57731	SPTBN4	Facial palsy	HP:0010628
57731	SPTBN4	Areflexia	HP:0001284
57731	SPTBN4	Congenital onset	HP:0003577
57731	SPTBN4	Myopathic facies	HP:0002058
57731	SPTBN4	Distal amyotrophy	HP:0003693
57731	SPTBN4	Severe muscular hypotonia	HP:0006829
57731	SPTBN4	Global developmental delay	HP:0001263
396	ARHGDIA	Cerebral visual impairment	HP:0100704
396	ARHGDIA	Hypoalbuminemia	HP:0003073
396	ARHGDIA	Thin glomerular basement membrane	HP:0012577
396	ARHGDIA	Intellectual disability	HP:0001249
396	ARHGDIA	Seizures	HP:0001250
396	ARHGDIA	Nephrotic syndrome	HP:0000100
396	ARHGDIA	Neonatal onset	HP:0003623
396	ARHGDIA	Autosomal recessive inheritance	HP:0000007
396	ARHGDIA	Edema	HP:0000969
396	ARHGDIA	Chronic kidney disease	HP:0012622
396	ARHGDIA	Diffuse mesangial sclerosis	HP:0001967
396	ARHGDIA	Sensorineural hearing impairment	HP:0000407
396	ARHGDIA	Proteinuria	HP:0000093
396	ARHGDIA	Rapidly progressive	HP:0003678
401	PHOX2A	Hypotropia	HP:0025584
401	PHOX2A	Bilateral ptosis	HP:0001488
401	PHOX2A	Restrictive external ophthalmoplegia	HP:0007936
401	PHOX2A	Exotropia	HP:0000577
401	PHOX2A	Hypertropia	HP:0025586
401	PHOX2A	Congenital fibrosis of extraocular muscles	HP:0001491
401	PHOX2A	Amblyopia	HP:0000646
401	PHOX2A	Autosomal recessive inheritance	HP:0000007
401	PHOX2A	Visual impairment	HP:0000505
403	ARL3	Abnormal electroretinogram	HP:0000512
403	ARL3	Multicystic kidney dysplasia	HP:0000003
403	ARL3	Cataract	HP:0000518
403	ARL3	Hypogonadism	HP:0000135
403	ARL3	Optic atrophy	HP:0000648
403	ARL3	Gait disturbance	HP:0001288
403	ARL3	Hand polydactyly	HP:0001161
403	ARL3	Recurrent urinary tract infections	HP:0000010
403	ARL3	Oculomotor apraxia	HP:0000657
403	ARL3	Progressive visual loss	HP:0000529
403	ARL3	Long face	HP:0000276
403	ARL3	Conductive hearing impairment	HP:0000405
403	ARL3	Nyctalopia	HP:0000662
403	ARL3	Sensorineural hearing impairment	HP:0000407
403	ARL3	Abnormality of retinal pigmentation	HP:0007703
403	ARL3	Hypoplasia of penis	HP:0008736
403	ARL3	Situs inversus totalis	HP:0001696
403	ARL3	Depressed nasal bridge	HP:0005280
403	ARL3	Abnormal testis morphology	HP:0000035
403	ARL3	Encephalocele	HP:0002084
403	ARL3	Foot polydactyly	HP:0001829
403	ARL3	Cerebellar vermis hypoplasia	HP:0001320
403	ARL3	Feeding difficulties in infancy	HP:0008872
403	ARL3	Prominent nasal bridge	HP:0000426
403	ARL3	Wide nasal bridge	HP:0000431
403	ARL3	Keratoconus	HP:0000563
403	ARL3	Apnea	HP:0002104
403	ARL3	Tremor	HP:0001337
403	ARL3	Episodic tachypnea	HP:0002876
403	ARL3	Hyperreflexia	HP:0001347
403	ARL3	Biparietal narrowing	HP:0004422
403	ARL3	Hyperinsulinemia	HP:0000842
403	ARL3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
403	ARL3	Oral cleft	HP:0000202
403	ARL3	Aganglionic megacolon	HP:0002251
403	ARL3	Polymicrogyria	HP:0002126
403	ARL3	Anteverted nares	HP:0000463
403	ARL3	Ophthalmoplegia	HP:0000602
403	ARL3	Type II diabetes mellitus	HP:0005978
403	ARL3	Scoliosis	HP:0002650
403	ARL3	Atypical scarring of skin	HP:0000987
403	ARL3	Abnormality of the hypothalamus-pituitary axis	HP:0000864
403	ARL3	Vitreous floaters	HP:0100832
403	ARL3	Intellectual disability	HP:0001249
403	ARL3	Seizures	HP:0001250
403	ARL3	Ataxia	HP:0001251
403	ARL3	Iris coloboma	HP:0000612
403	ARL3	Muscular hypotonia	HP:0001252
403	ARL3	Photophobia	HP:0000613
403	ARL3	Strabismus	HP:0000486
403	ARL3	Obesity	HP:0001513
403	ARL3	Blindness	HP:0000618
403	ARL3	Constriction of peripheral visual field	HP:0001133
403	ARL3	Abnormal retinal vascular morphology	HP:0008046
403	ARL3	Hydrocephalus	HP:0000238
403	ARL3	Reduced visual acuity	HP:0007663
403	ARL3	Global developmental delay	HP:0001263
403	ARL3	Abnormal form of the vertebral bodies	HP:0003312
403	ARL3	Cystoid macular edema	HP:0011505
403	ARL3	Low-set ears	HP:0000369
403	ARL3	Glaucoma	HP:0000501
403	ARL3	Highly arched eyebrow	HP:0002553
403	ARL3	Telecanthus	HP:0000506
403	ARL3	Progressive night blindness	HP:0007675
403	ARL3	Ptosis	HP:0000508
403	ARL3	Rod-cone dystrophy	HP:0000510
403	ARL3	Hydronephrosis	HP:0000126
403	ARL3	Nystagmus	HP:0000639
8600	TNFSF11	Macrocephaly	HP:0000256
8600	TNFSF11	Abnormal blistering of the skin	HP:0008066
8600	TNFSF11	Otitis media	HP:0000388
8600	TNFSF11	Abnormality of the ribs	HP:0000772
8600	TNFSF11	Narrow chest	HP:0000774
8600	TNFSF11	Autosomal recessive inheritance	HP:0000007
8600	TNFSF11	Optic atrophy	HP:0000648
8600	TNFSF11	Abnormality of visual evoked potentials	HP:0000649
8600	TNFSF11	Abnormality of temperature regulation	HP:0004370
8600	TNFSF11	Chronic rhinitis due to narrow nasal airway	HP:0004499
8600	TNFSF11	Hepatosplenomegaly	HP:0001433
8600	TNFSF11	Lymphadenopathy	HP:0002716
8600	TNFSF11	Recurrent respiratory infections	HP:0002205
8600	TNFSF11	Carious teeth	HP:0000670
8600	TNFSF11	Cranial nerve paralysis	HP:0006824
8600	TNFSF11	Facial paralysis	HP:0007209
8600	TNFSF11	Genu valgum	HP:0002857
8600	TNFSF11	Abnormality of epiphysis morphology	HP:0005930
8600	TNFSF11	Pulmonary arterial hypertension	HP:0002092
8600	TNFSF11	Delayed eruption of teeth	HP:0000684
8600	TNFSF11	Opsoclonus	HP:0010543
8600	TNFSF11	Mandibular prognathia	HP:0000303
8600	TNFSF11	Abnormality of the metaphysis	HP:0000944
8600	TNFSF11	Premature loss of primary teeth	HP:0006323
8600	TNFSF11	Apnea	HP:0002104
8600	TNFSF11	Tremor	HP:0001337
8600	TNFSF11	Extramedullary hematopoiesis	HP:0001978
8600	TNFSF11	Pulmonary artery stenosis	HP:0004415
8600	TNFSF11	Persistence of primary teeth	HP:0006335
8600	TNFSF11	Hepatomegaly	HP:0002240
8600	TNFSF11	Recurrent fractures	HP:0002757
8600	TNFSF11	Mandibular osteomyelitis	HP:0007626
8600	TNFSF11	Splenomegaly	HP:0001744
8600	TNFSF11	Chronic rhinitis	HP:0002257
8600	TNFSF11	Thrombocytopenia	HP:0001873
8600	TNFSF11	Bruising susceptibility	HP:0000978
8600	TNFSF11	Craniosynostosis	HP:0001363
8600	TNFSF11	Pallor	HP:0000980
8600	TNFSF11	Pancytopenia	HP:0001876
8600	TNFSF11	Hypocalcemia	HP:0002901
8600	TNFSF11	Cranial hyperostosis	HP:0004437
8600	TNFSF11	Bowing of the long bones	HP:0006487
8600	TNFSF11	Diaphyseal sclerosis	HP:0003034
8600	TNFSF11	Bone pain	HP:0002653
8600	TNFSF11	Abnormality of hair texture	HP:0010719
8600	TNFSF11	Hypophosphatemia	HP:0002148
8600	TNFSF11	Growth delay	HP:0001510
8600	TNFSF11	Abnormal pulmonary valve morphology	HP:0001641
8600	TNFSF11	Blindness	HP:0000618
8600	TNFSF11	Hearing impairment	HP:0000365
8600	TNFSF11	Hydrocephalus	HP:0000238
8600	TNFSF11	Anemia	HP:0001903
8600	TNFSF11	Visual impairment	HP:0000505
8600	TNFSF11	Osteopetrosis	HP:0011002
8600	TNFSF11	Reduced bone mineral density	HP:0004349
8600	TNFSF11	Nystagmus	HP:0000639
8600	TNFSF11	Optic nerve compression	HP:0007807
410	ARSA	Punctate periventricular T2 hyperintense foci	HP:0030081
410	ARSA	Bulbar palsy	HP:0001283
410	ARSA	Autosomal recessive inheritance	HP:0000007
410	ARSA	Optic atrophy	HP:0000648
410	ARSA	Gait disturbance	HP:0001288
410	ARSA	Clumsiness	HP:0002312
410	ARSA	Abnormality of visual evoked potentials	HP:0000649
410	ARSA	Generalized hypotonia	HP:0001290
410	ARSA	Tetraplegia	HP:0002445
410	ARSA	Schizophrenia	HP:0100753
410	ARSA	Abnormal social behavior	HP:0012433
410	ARSA	Abnormality of metabolism/homeostasis	HP:0001939
410	ARSA	Toe walking	HP:0040083
410	ARSA	Urinary incontinence	HP:0000020
410	ARSA	Chorea	HP:0002072
410	ARSA	Babinski sign	HP:0003487
410	ARSA	Intention tremor	HP:0002080
410	ARSA	Feeding difficulties in infancy	HP:0008872
410	ARSA	Bilateral sensorineural hearing impairment	HP:0008619
410	ARSA	Muscle weakness	HP:0001324
410	ARSA	Progressive spastic quadriplegia	HP:0002478
410	ARSA	Bowel incontinence	HP:0002607
410	ARSA	Memory impairment	HP:0002354
410	ARSA	Difficulty walking	HP:0002355
410	ARSA	Bulbar signs	HP:0002483
410	ARSA	Dystonia	HP:0001332
410	ARSA	Decerebrate rigidity	HP:0025013
410	ARSA	Frequent falls	HP:0002359
410	ARSA	Cholecystitis	HP:0001082
410	ARSA	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
410	ARSA	Loss of speech	HP:0002371
410	ARSA	Hyperreflexia	HP:0001347
410	ARSA	Abnormality of the cerebral white matter	HP:0002500
410	ARSA	Abdominal distention	HP:0003270
410	ARSA	Emotional lability	HP:0000712
410	ARSA	Progressive gait ataxia	HP:0007240
410	ARSA	Developmental regression	HP:0002376
410	ARSA	Depressivity	HP:0000716
410	ARSA	Spastic tetraplegia	HP:0002510
410	ARSA	Dementia	HP:0000726
410	ARSA	Peripheral demyelination	HP:0011096
410	ARSA	Progressive peripheral neuropathy	HP:0007133
410	ARSA	Neoplasm of the gallbladder	HP:0100575
410	ARSA	Short attention span	HP:0000736
410	ARSA	Intellectual disability	HP:0001249
410	ARSA	Seizures	HP:0001250
410	ARSA	Hallucinations	HP:0000738
410	ARSA	Ataxia	HP:0001251
410	ARSA	Muscular hypotonia	HP:0001252
410	ARSA	Progressive psychomotor deterioration	HP:0007272
410	ARSA	Gallbladder dysfunction	HP:0005609
410	ARSA	Spasticity	HP:0001257
410	ARSA	Increased CSF protein	HP:0002922
410	ARSA	Delusions	HP:0000746
410	ARSA	Dysarthria	HP:0001260
410	ARSA	Reduced visual acuity	HP:0007663
410	ARSA	Leukodystrophy	HP:0002415
410	ARSA	Hyporeflexia	HP:0001265
410	ARSA	Mental deterioration	HP:0001268
410	ARSA	EMG: chronic denervation signs	HP:0003444
410	ARSA	EMG: neuropathic changes	HP:0003445
410	ARSA	Abnormality of glycosphingolipid metabolism	HP:0004343
410	ARSA	Decreased nerve conduction velocity	HP:0000762
410	ARSA	Vegetative state	HP:0031358
411	ARSB	Hepatomegaly	HP:0002240
411	ARSB	Macrocephaly	HP:0000256
411	ARSB	Umbilical hernia	HP:0001537
411	ARSB	Disproportionate short-trunk short stature	HP:0003521
411	ARSB	Avascular necrosis	HP:0010885
411	ARSB	Autosomal recessive inheritance	HP:0000007
411	ARSB	Metaphyseal widening	HP:0003016
411	ARSB	Hypoplastic acetabulae	HP:0003274
411	ARSB	Dolichocephaly	HP:0000268
411	ARSB	Cervical myelopathy	HP:0002318
411	ARSB	Opacification of the corneal stroma	HP:0007759
411	ARSB	Splenomegaly	HP:0001744
411	ARSB	Metaphyseal irregularity	HP:0003025
411	ARSB	Split hand	HP:0001171
411	ARSB	Inguinal hernia	HP:0000023
411	ARSB	Coarse facial features	HP:0000280
411	ARSB	Constrictive median neuropathy	HP:0012185
411	ARSB	Macroglossia	HP:0000158
411	ARSB	Epiphyseal dysplasia	HP:0002656
411	ARSB	Depressed nasal bridge	HP:0005280
411	ARSB	Recurrent upper respiratory tract infections	HP:0002788
411	ARSB	Ovoid vertebral bodies	HP:0003300
411	ARSB	Anterior wedging of L2	HP:0011941
411	ARSB	Cardiomyopathy	HP:0001638
411	ARSB	Hip dysplasia	HP:0001385
411	ARSB	Genu valgum	HP:0002857
411	ARSB	Joint stiffness	HP:0001387
411	ARSB	Dermatan sulfate excretion in urine	HP:0008301
411	ARSB	Hearing impairment	HP:0000365
411	ARSB	Hydrocephalus	HP:0000238
411	ARSB	Hirsutism	HP:0001007
411	ARSB	Dysostosis multiplex	HP:0000943
411	ARSB	Hypoplasia of the odontoid process	HP:0003311
411	ARSB	Anterior wedging of L1	HP:0008432
411	ARSB	Hypoplastic iliac wing	HP:0002866
411	ARSB	Prominent sternum	HP:0000884
411	ARSB	Glaucoma	HP:0000501
411	ARSB	Flared iliac wings	HP:0002869
411	ARSB	Broad ribs	HP:0000885
411	ARSB	Abnormal heart valve morphology	HP:0001654
411	ARSB	Lumbar hyperlordosis	HP:0002938
412	STS	Ichthyosis	HP:0008064
412	STS	Hyperkeratosis	HP:0000962
412	STS	Hypohidrosis	HP:0000966
412	STS	Hypogonadism	HP:0000135
412	STS	Congenital ichthyosiform erythroderma	HP:0007431
412	STS	Testicular seminoma	HP:0100617
412	STS	X-linked recessive inheritance	HP:0001419
412	STS	Autism	HP:0000717
412	STS	Opacification of the corneal stroma	HP:0007759
412	STS	Abnormality of the stomach	HP:0002577
412	STS	Renal insufficiency	HP:0000083
412	STS	Abnormality of metabolism/homeostasis	HP:0001939
412	STS	Corneal opacity	HP:0007957
412	STS	Cryptorchidism	HP:0000028
412	STS	Intellectual disability	HP:0001249
412	STS	Seizures	HP:0001250
412	STS	Short stature	HP:0004322
412	STS	Neoplasm	HP:0002664
412	STS	Attention deficit hyperactivity disorder	HP:0007018
412	STS	Global developmental delay	HP:0001263
412	STS	Abdominal wall defect	HP:0010866
412	STS	Dysphasia	HP:0002357
412	STS	Neurological speech impairment	HP:0002167
412	STS	Acute leukemia	HP:0002488
412	STS	Unilateral renal agenesis	HP:0000122
412	STS	Lissencephaly	HP:0001339
412	STS	Dry skin	HP:0000958
8604	SLC25A12	Absent speech	HP:0001344
8604	SLC25A12	Poor eye contact	HP:0000817
8604	SLC25A12	Seizures	HP:0001250
8604	SLC25A12	Hyperreflexia	HP:0001347
8604	SLC25A12	Epileptic encephalopathy	HP:0200134
8604	SLC25A12	Autosomal recessive inheritance	HP:0000007
8604	SLC25A12	Cerebral hypomyelination	HP:0006808
8604	SLC25A12	Spasticity	HP:0001257
8604	SLC25A12	Infantile onset	HP:0003593
8604	SLC25A12	Severe muscular hypotonia	HP:0006829
8604	SLC25A12	Global developmental delay	HP:0001263
415	ARSE	Ichthyosis	HP:0008064
415	ARSE	Depressed nasal bridge	HP:0005280
415	ARSE	Short stature	HP:0004322
415	ARSE	Short nasal septum	HP:0000420
415	ARSE	Cataract	HP:0000518
415	ARSE	Hypogonadism	HP:0000135
415	ARSE	Anosmia	HP:0000458
415	ARSE	X-linked recessive inheritance	HP:0001419
415	ARSE	Hearing impairment	HP:0000365
415	ARSE	Global developmental delay	HP:0001263
415	ARSE	Short distal phalanx of finger	HP:0009882
415	ARSE	Microcephaly	HP:0000252
415	ARSE	Short nose	HP:0003196
415	ARSE	Abnormality of the vertebral column	HP:0000925
415	ARSE	Epiphyseal stippling	HP:0010655
421	ARVCF	Umbilical hernia	HP:0001537
421	ARVCF	Tetany	HP:0001281
421	ARVCF	Intestinal malrotation	HP:0002566
421	ARVCF	Turricephaly	HP:0000262
421	ARVCF	Cataract	HP:0000518
421	ARVCF	Hypoplasia of the thymus	HP:0000778
421	ARVCF	Abnormal aortic arch morphology	HP:0012303
421	ARVCF	Malar flattening	HP:0000272
421	ARVCF	Long face	HP:0000276
421	ARVCF	Inguinal hernia	HP:0000023
421	ARVCF	Polyhydramnios	HP:0001561
421	ARVCF	Seborrheic dermatitis	HP:0001051
421	ARVCF	Cryptorchidism	HP:0000028
421	ARVCF	Hypopigmented skin patches	HP:0001053
421	ARVCF	Epicanthus	HP:0000286
421	ARVCF	Acne	HP:0001061
421	ARVCF	Foot polydactyly	HP:0001829
421	ARVCF	Hypospadias	HP:0000047
421	ARVCF	Bowel incontinence	HP:0002607
421	ARVCF	Specific learning disability	HP:0001328
421	ARVCF	Asthma	HP:0002099
421	ARVCF	Dysphasia	HP:0002357
421	ARVCF	Hypothyroidism	HP:0000821
421	ARVCF	Abnormal lung lobation	HP:0002101
421	ARVCF	Microphthalmia	HP:0000568
421	ARVCF	Cholelithiasis	HP:0001081
421	ARVCF	Varicose veins	HP:0002619
421	ARVCF	Impaired T cell function	HP:0005435
421	ARVCF	Multiple suture craniosynostosis	HP:0011324
421	ARVCF	Joint hyperflexibility	HP:0005692
421	ARVCF	Hypertelorism	HP:0000316
421	ARVCF	Hypoparathyroidism	HP:0000829
421	ARVCF	Laryngomalacia	HP:0001601
421	ARVCF	Short philtrum	HP:0000322
421	ARVCF	Hyperthyroidism	HP:0000836
421	ARVCF	Upslanted palpebral fissure	HP:0000582
421	ARVCF	Nasal speech	HP:0001611
421	ARVCF	Vesicoureteral reflux	HP:0000076
421	ARVCF	Thrombocytopenia	HP:0001873
421	ARVCF	Hypocalcemia	HP:0002901
421	ARVCF	Long philtrum	HP:0000343
421	ARVCF	Abnormality of the pharynx	HP:0000600
421	ARVCF	Renal hypoplasia	HP:0000089
421	ARVCF	Arthritis	HP:0001369
421	ARVCF	Scoliosis	HP:0002650
421	ARVCF	Micrognathia	HP:0000347
421	ARVCF	Arrhinencephaly	HP:0002139
421	ARVCF	Ventricular septal defect	HP:0001629
421	ARVCF	Atrial septal defect	HP:0001631
421	ARVCF	Tetralogy of Fallot	HP:0001636
421	ARVCF	Occipital myelomeningocele	HP:0007271
421	ARVCF	Abnormal pulmonary valve morphology	HP:0001641
421	ARVCF	Attention deficit hyperactivity disorder	HP:0007018
421	ARVCF	Patent ductus arteriosus	HP:0001643
421	ARVCF	Chronic obstructive pulmonary disease	HP:0006510
421	ARVCF	Abnormal aortic valve morphology	HP:0001646
421	ARVCF	Retinal arteriolar tortuosity	HP:0001136
421	ARVCF	Polycystic kidney dysplasia	HP:0000113
421	ARVCF	Low-set ears	HP:0000369
421	ARVCF	Posterior embryotoxon	HP:0000627
421	ARVCF	Truncus arteriosus	HP:0001660
421	ARVCF	Hypertensive crisis	HP:0100735
421	ARVCF	Small earlobe	HP:0000385
421	ARVCF	Abnormality of the uterus	HP:0000130
421	ARVCF	Platybasia	HP:0002691
421	ARVCF	Chronic otitis media	HP:0000389
421	ARVCF	Bipolar affective disorder	HP:0007302
421	ARVCF	Optic atrophy	HP:0000648
421	ARVCF	Hand polydactyly	HP:0001161
421	ARVCF	Overfolded helix	HP:0000396
421	ARVCF	Arachnodactyly	HP:0001166
421	ARVCF	Tricuspid atresia	HP:0011662
421	ARVCF	Atelectasis	HP:0100750
421	ARVCF	Schizophrenia	HP:0100753
421	ARVCF	Autoimmunity	HP:0002960
421	ARVCF	Conductive hearing impairment	HP:0000405
421	ARVCF	Abnormality of the tonsils	HP:0100765
421	ARVCF	Carious teeth	HP:0000670
421	ARVCF	Bulbous nose	HP:0000414
421	ARVCF	Narrow mouth	HP:0000160
421	ARVCF	Immunodeficiency	HP:0002721
421	ARVCF	Feeding difficulties in infancy	HP:0008872
421	ARVCF	Prominent nasal bridge	HP:0000426
421	ARVCF	Abnormality of dental enamel	HP:0000682
421	ARVCF	Wide nasal bridge	HP:0000431
421	ARVCF	Cleft palate	HP:0000175
421	ARVCF	Patellar dislocation	HP:0002999
421	ARVCF	Multiple renal cysts	HP:0005562
421	ARVCF	Gastrointestinal hemorrhage	HP:0002239
421	ARVCF	Choanal atresia	HP:0000453
421	ARVCF	Aganglionic megacolon	HP:0002251
421	ARVCF	Depressivity	HP:0000716
421	ARVCF	Autism	HP:0000717
421	ARVCF	Splenomegaly	HP:0001744
421	ARVCF	Purpura	HP:0000979
421	ARVCF	Short neck	HP:0000470
421	ARVCF	Short stature	HP:0004322
421	ARVCF	Seizures	HP:0001250
421	ARVCF	Talipes equinovarus	HP:0001762
421	ARVCF	Constipation	HP:0002019
421	ARVCF	Anxiety	HP:0000739
421	ARVCF	Failure to thrive	HP:0001508
421	ARVCF	Gastroesophageal reflux	HP:0002020
421	ARVCF	Muscular hypotonia	HP:0001252
421	ARVCF	Strabismus	HP:0000486
421	ARVCF	Anal atresia	HP:0002023
421	ARVCF	Intrauterine growth retardation	HP:0001511
421	ARVCF	Corneal neovascularization	HP:0011496
421	ARVCF	Intellectual disability, mild	HP:0001256
421	ARVCF	Obesity	HP:0001513
421	ARVCF	Hydrocephalus	HP:0000238
421	ARVCF	Downslanted palpebral fissures	HP:0000494
421	ARVCF	Global developmental delay	HP:0001263
421	ARVCF	Glaucoma	HP:0000501
421	ARVCF	Telecanthus	HP:0000506
421	ARVCF	Ptosis	HP:0000508
421	ARVCF	Microcephaly	HP:0000252
421	ARVCF	Abnormality of the thorax	HP:0000765
421	ARVCF	Myalgia	HP:0003326
427	ASAH1	EMG abnormality	HP:0003457
427	ASAH1	Areflexia	HP:0001284
427	ASAH1	Facial palsy	HP:0010628
427	ASAH1	Autosomal dominant inheritance	HP:0000006
427	ASAH1	Autosomal recessive inheritance	HP:0000007
427	ASAH1	Gait disturbance	HP:0001288
427	ASAH1	Arthralgia	HP:0002829
427	ASAH1	Corneal opacity	HP:0007957
427	ASAH1	Tongue fasciculations	HP:0001308
427	ASAH1	Recurrent respiratory infections	HP:0002205
427	ASAH1	Pulmonary fibrosis	HP:0002206
427	ASAH1	Juvenile onset	HP:0003621
427	ASAH1	Osteoporosis	HP:0000939
427	ASAH1	Respiratory insufficiency	HP:0002093
427	ASAH1	Periarticular subcutaneous nodules	HP:0007470
427	ASAH1	EEG abnormality	HP:0002353
427	ASAH1	Difficulty walking	HP:0002355
427	ASAH1	Frequent falls	HP:0002359
427	ASAH1	Myoclonus	HP:0001336
427	ASAH1	Tremor	HP:0001337
427	ASAH1	Respiratory insufficiency due to muscle weakness	HP:0002747
427	ASAH1	Gowers sign	HP:0003391
427	ASAH1	Hepatomegaly	HP:0002240
427	ASAH1	Laryngomalacia	HP:0001601
427	ASAH1	Generalized myoclonic seizures	HP:0002123
427	ASAH1	Oral-pharyngeal dysphagia	HP:0200136
427	ASAH1	Lipogranulomatosis	HP:0040139
427	ASAH1	Hoarse cry	HP:0001615
427	ASAH1	Splenomegaly	HP:0001744
427	ASAH1	Dementia	HP:0000726
427	ASAH1	Arthritis	HP:0001369
427	ASAH1	Scoliosis	HP:0002650
427	ASAH1	Progressive	HP:0003676
427	ASAH1	Degeneration of anterior horn cells	HP:0002398
427	ASAH1	Intellectual disability	HP:0001249
427	ASAH1	Irritability	HP:0000737
427	ASAH1	Short stature	HP:0004322
427	ASAH1	Failure to thrive	HP:0001508
427	ASAH1	Spinal muscular atrophy	HP:0007269
427	ASAH1	Cherry red spot of the macula	HP:0010729
427	ASAH1	Joint swelling	HP:0001386
427	ASAH1	Joint stiffness	HP:0001387
427	ASAH1	Global developmental delay	HP:0001263
427	ASAH1	Variable expressivity	HP:0003828
427	ASAH1	Motor delay	HP:0001270
427	ASAH1	Neurological speech impairment	HP:0002167
427	ASAH1	Abnormality of vision	HP:0000504
427	ASAH1	Kyphosis	HP:0002808
427	ASAH1	Progressive distal muscular atrophy	HP:0008955
427	ASAH1	Nystagmus	HP:0000639
427	ASAH1	Decreased muscle mass	HP:0003199
8621	CDK13	Delayed ability to walk	HP:0031936
8621	CDK13	Feeding difficulties	HP:0011968
8621	CDK13	Short philtrum	HP:0000322
8621	CDK13	Clinodactyly	HP:0030084
8621	CDK13	Upslanted palpebral fissure	HP:0000582
8621	CDK13	Autosomal dominant inheritance	HP:0000006
8621	CDK13	Short palpebral fissure	HP:0012745
8621	CDK13	Generalized hypotonia	HP:0001290
8621	CDK13	Thin upper lip vermilion	HP:0000219
8621	CDK13	Ventricular septal defect	HP:0001629
8621	CDK13	Epicanthus	HP:0000286
8621	CDK13	Hypoplasia of the corpus callosum	HP:0002079
8621	CDK13	Atrial septal defect	HP:0001631
8621	CDK13	Narrow mouth	HP:0000160
8621	CDK13	Intellectual disability	HP:0001249
8621	CDK13	Camptodactyly	HP:0012385
8621	CDK13	Seizures	HP:0001250
8621	CDK13	Strabismus	HP:0000486
8621	CDK13	Joint hypermobility	HP:0001382
8621	CDK13	Posteriorly rotated ears	HP:0000358
8621	CDK13	Small cerebral cortex	HP:0002472
8621	CDK13	Delayed speech and language development	HP:0000750
8621	CDK13	Wide nasal bridge	HP:0000431
8621	CDK13	Global developmental delay	HP:0001263
8621	CDK13	Low-set ears	HP:0000369
8621	CDK13	Agenesis of corpus callosum	HP:0001274
8621	CDK13	Microcephaly	HP:0000252
8621	CDK13	Ptosis	HP:0000508
8621	CDK13	Hypertelorism	HP:0000316
429	ASCL1	Hypercapnia	HP:0012416
429	ASCL1	Feeding difficulties	HP:0011968
429	ASCL1	Hypoxemia	HP:0012418
429	ASCL1	Breathing dysregulation	HP:0005957
429	ASCL1	Central hypoventilation	HP:0007110
429	ASCL1	Autosomal dominant inheritance	HP:0000006
429	ASCL1	Aganglionic megacolon	HP:0002251
429	ASCL1	Hyperhidrosis	HP:0000975
429	ASCL1	Abnormality of temperature regulation	HP:0004370
429	ASCL1	Decreased fetal movement	HP:0001558
429	ASCL1	Sensorineural hearing impairment	HP:0000407
429	ASCL1	Abnormality of the mouth	HP:0000153
429	ASCL1	Polyhydramnios	HP:0001561
429	ASCL1	Abnormality of the cardiovascular system	HP:0001626
429	ASCL1	Oligohydramnios	HP:0001562
429	ASCL1	Ganglioneuroblastoma	HP:0006747
429	ASCL1	Intellectual disability	HP:0001249
429	ASCL1	Seizures	HP:0001250
429	ASCL1	Constipation	HP:0002019
429	ASCL1	Failure to thrive	HP:0001508
429	ASCL1	Muscular hypotonia	HP:0001252
429	ASCL1	Gastroesophageal reflux	HP:0002020
429	ASCL1	Posteriorly rotated ears	HP:0000358
429	ASCL1	Strabismus	HP:0000486
429	ASCL1	Hypoventilation	HP:0002791
429	ASCL1	Central sleep apnea	HP:0010536
429	ASCL1	Abnormal autonomic nervous system physiology	HP:0012332
429	ASCL1	Downslanted palpebral fissures	HP:0000494
429	ASCL1	Small for gestational age	HP:0001518
429	ASCL1	Low-set ears	HP:0000369
429	ASCL1	Death in infancy	HP:0001522
429	ASCL1	Apnea	HP:0002104
429	ASCL1	Ganglioneuroma	HP:0003005
429	ASCL1	Neuroblastoma	HP:0003006
8622	PDE8B	Skeletal muscle atrophy	HP:0003202
8622	PDE8B	Thin skin	HP:0000963
8622	PDE8B	Autosomal dominant inheritance	HP:0000006
8622	PDE8B	Hypogonadism	HP:0000135
8622	PDE8B	Hypokinesia	HP:0002375
8622	PDE8B	Gait disturbance	HP:0001288
8622	PDE8B	Degeneration of the striatum	HP:0040140
8622	PDE8B	Rigidity	HP:0002063
8622	PDE8B	Bradykinesia	HP:0002067
8622	PDE8B	Fatigue	HP:0012378
8622	PDE8B	Dysdiadochokinesis	HP:0002075
8622	PDE8B	Lower limb hyperreflexia	HP:0002395
8622	PDE8B	Adrenal hyperplasia	HP:0008221
8622	PDE8B	Slow progression	HP:0003677
8622	PDE8B	Dysphagia	HP:0002015
8622	PDE8B	Short stature	HP:0004322
8622	PDE8B	Increased susceptibility to fractures	HP:0002659
8622	PDE8B	Striae distensae	HP:0001065
8622	PDE8B	Osteoporosis	HP:0000939
8622	PDE8B	Pigmented micronodular adrenocortical disease	HP:0001580
8622	PDE8B	Muscle weakness	HP:0001324
8622	PDE8B	Dysarthria	HP:0001260
8622	PDE8B	Increased circulating cortisol level	HP:0003118
8622	PDE8B	Diabetes mellitus	HP:0000819
8622	PDE8B	Hypertension	HP:0000822
8622	PDE8B	Slender build	HP:0001533
8622	PDE8B	Myopathy	HP:0003198
8622	PDE8B	Symmetric lesions of the basal ganglia	HP:0007039
8625	RFXANK	Protracted diarrhea	HP:0004385
8625	RFXANK	Chronic lymphocytic meningitis	HP:0007041
8625	RFXANK	Viral hepatitis	HP:0006562
8625	RFXANK	Panhypogammaglobulinemia	HP:0003139
8625	RFXANK	Failure to thrive	HP:0001508
8625	RFXANK	Recurrent upper respiratory tract infections	HP:0002788
8625	RFXANK	Autosomal dominant inheritance	HP:0000006
8625	RFXANK	Autosomal recessive inheritance	HP:0000007
8625	RFXANK	Cholangitis	HP:0030151
8625	RFXANK	Chronic mucocutaneous candidiasis	HP:0002728
8625	RFXANK	Malabsorption	HP:0002024
8625	RFXANK	Recurrent urinary tract infections	HP:0000010
8625	RFXANK	Recurrent protozoan infections	HP:0005386
8625	RFXANK	Recurrent viral infections	HP:0004429
8625	RFXANK	Encephalitis	HP:0002383
8625	RFXANK	Agammaglobulinemia	HP:0004432
8625	RFXANK	Villous atrophy	HP:0011473
8625	RFXANK	Neutropenia	HP:0001875
8625	RFXANK	Cutaneous anergy	HP:0002965
8625	RFXANK	Colitis	HP:0002583
8625	RFXANK	Recurrent fungal infections	HP:0002841
8625	RFXANK	Recurrent bacterial infections	HP:0002718
8625	RFXANK	Recurrent lower respiratory tract infections	HP:0002783
8626	TP63	Umbilical hernia	HP:0001537
8626	TP63	Absent nipple	HP:0002561
8626	TP63	Omphalocele	HP:0001539
8626	TP63	Intestinal malrotation	HP:0002566
8626	TP63	Autosomal dominant inheritance	HP:0000006
8626	TP63	Recurrent urinary tract infections	HP:0000010
8626	TP63	Aniridia	HP:0000526
8626	TP63	Bilateral breast hypoplasia	HP:0012814
8626	TP63	Bladder diverticulum	HP:0000015
8626	TP63	Sparse eyebrow	HP:0045075
8626	TP63	Megacystis	HP:0000021
8626	TP63	Sparse and thin eyebrow	HP:0000535
8626	TP63	Inguinal hernia	HP:0000023
8626	TP63	Ankyloblepharon	HP:0009755
8626	TP63	Cryptorchidism	HP:0000028
8626	TP63	Hypoplasia of penis	HP:0008736
8626	TP63	Chronic irritative conjunctivitis	HP:0007717
8626	TP63	Epispadias	HP:0000039
8626	TP63	Aplasia/Hypoplasia of the phalanges of the hand	HP:0009767
8626	TP63	Submucous cleft soft palate	HP:0011819
8626	TP63	Hypogonadotrophic hypogonadism	HP:0000044
8626	TP63	Hypospadias	HP:0000047
8626	TP63	Bowel incontinence	HP:0002607
8626	TP63	Absent eyelashes	HP:0000561
8626	TP63	Lacrimal duct atresia	HP:0000564
8626	TP63	Aplasia/Hypoplasia of the nipples	HP:0006709
8626	TP63	Micropenis	HP:0000054
8626	TP63	Abnormality of the clitoris	HP:0000056
8626	TP63	Selective tooth agenesis	HP:0001592
8626	TP63	Hypoplastic labia majora	HP:0000059
8626	TP63	Alopecia	HP:0001596
8626	TP63	Thick eyebrow	HP:0000574
8626	TP63	Nasolacrimal duct obstruction	HP:0000579
8626	TP63	Urethral atresia	HP:0000068
8626	TP63	Absent lacrimal punctum	HP:0001092
8626	TP63	Blepharophimosis	HP:0000581
8626	TP63	Ureterocele	HP:0000070
8626	TP63	Aplasia/Hypoplasia of the breasts	HP:0010311
8626	TP63	Abnormality of the voice	HP:0001608
8626	TP63	Hydroureter	HP:0000072
8626	TP63	Vesicoureteral reflux	HP:0000076
8626	TP63	Reduced number of teeth	HP:0009804
8626	TP63	Duplicated collecting system	HP:0000081
8626	TP63	2-3 toe syndactyly	HP:0004691
8626	TP63	Ventricular septal defect	HP:0001629
8626	TP63	Camptodactyly	HP:0012385
8626	TP63	Photophobia	HP:0000613
8626	TP63	Renal agenesis	HP:0000104
8626	TP63	Lymphoma	HP:0002665
8626	TP63	Patent ductus arteriosus	HP:0001643
8626	TP63	Dacryocystitis	HP:0000620
8626	TP63	Entropion	HP:0000621
8626	TP63	Renal dysplasia	HP:0000110
8626	TP63	Clinodactyly of the 5th finger	HP:0004209
8626	TP63	Breast hypoplasia	HP:0003187
8626	TP63	Nail dysplasia	HP:0002164
8626	TP63	Lacrimation abnormality	HP:0000632
8626	TP63	Blue irides	HP:0000635
8626	TP63	Hydronephrosis	HP:0000126
8626	TP63	Syndactyly	HP:0001159
8626	TP63	Sparse eyelashes	HP:0000653
8626	TP63	Transverse vaginal septum	HP:0000145
8626	TP63	Split hand	HP:0001171
8626	TP63	Aplasia of the uterus	HP:0000151
8626	TP63	Hypodontia	HP:0000668
8626	TP63	Carious teeth	HP:0000670
8626	TP63	Coarse hair	HP:0002208
8626	TP63	Narrow mouth	HP:0000160
8626	TP63	Depressed nasal bridge	HP:0005280
8626	TP63	Sparse scalp hair	HP:0002209
8626	TP63	3-4 finger cutaneous syndactyly	HP:0011939
8626	TP63	Fine hair	HP:0002213
8626	TP63	Oligodontia	HP:0000677
8626	TP63	Taurodontia	HP:0000679
8626	TP63	Sparse axillary hair	HP:0002215
8626	TP63	Slow-growing hair	HP:0002217
8626	TP63	Abnormality of dental enamel	HP:0000682
8626	TP63	Delayed eruption of teeth	HP:0000684
8626	TP63	Cleft palate	HP:0000175
8626	TP63	Widely spaced teeth	HP:0000687
8626	TP63	Triphalangeal thumb	HP:0001199
8626	TP63	Submucous cleft hard palate	HP:0000176
8626	TP63	Sparse pubic hair	HP:0002225
8626	TP63	Microdontia	HP:0000691
8626	TP63	Nevus	HP:0003764
8626	TP63	Psoriasiform dermatitis	HP:0003765
8626	TP63	Sparse body hair	HP:0002231
8626	TP63	Patchy alopecia	HP:0002232
8626	TP63	Conical tooth	HP:0000698
8626	TP63	Pili canaliculi	HP:0002235
8626	TP63	Bifid uvula	HP:0000193
8626	TP63	Abnormality of the nervous system	HP:0000707
8626	TP63	Absence of Stensen duct	HP:0000198
8626	TP63	Dystrophic fingernails	HP:0008391
8626	TP63	Oral cleft	HP:0000202
8626	TP63	Abnormality of the nasopharynx	HP:0001739
8626	TP63	Cleft upper lip	HP:0000204
8626	TP63	Nail dystrophy	HP:0008404
8626	TP63	Premature loss of permanent teeth	HP:0006357
8626	TP63	Xerostomia	HP:0000217
8626	TP63	Velopharyngeal insufficiency	HP:0000220
8626	TP63	Aplasia of the ovary	HP:0010463
8626	TP63	Intellectual disability	HP:0001249
8626	TP63	Short stature	HP:0004322
8626	TP63	Toe syndactyly	HP:0001770
8626	TP63	Fair hair	HP:0002286
8626	TP63	Dermal atrophy	HP:0004334
8626	TP63	Progressive alopecia	HP:0002287
8626	TP63	Alopecia of scalp	HP:0002293
8626	TP63	Small nail	HP:0001792
8626	TP63	Joint contracture of the hand	HP:0009473
8626	TP63	Hyperconvex nail	HP:0001795
8626	TP63	Anonychia	HP:0001798
8626	TP63	Hypoplasia of the thymus	HP:0000778
8626	TP63	Nail pits	HP:0001803
8626	TP63	Onychogryposis	HP:0001805
8626	TP63	Generalized hyperpigmentation	HP:0007440
8626	TP63	Malar flattening	HP:0000272
8626	TP63	Dystrophic toenail	HP:0001810
8626	TP63	Primary amenorrhea	HP:0000786
8626	TP63	Hyperconvex fingernails	HP:0001812
8626	TP63	Bladder exstrophy	HP:0002836
8626	TP63	Abnormality of the anus	HP:0004378
8626	TP63	Aplasia/Hypoplasia involving the metacarpal bones	HP:0005914
8626	TP63	Hallux valgus	HP:0001822
8626	TP63	Adermatoglyphia	HP:0007455
8626	TP63	Oval face	HP:0000300
8626	TP63	Split foot	HP:0001839
8626	TP63	Anhidrotic ectodermal dysplasia	HP:0007476
8626	TP63	Growth hormone deficiency	HP:0000824
8626	TP63	Hypoplasia of the maxilla	HP:0000327
8626	TP63	Decreased number of sweat glands	HP:0007500
8626	TP63	Abnormality of dental morphology	HP:0006482
8626	TP63	Corneal erosion	HP:0200020
8626	TP63	Generalized hypopigmentation	HP:0007513
8626	TP63	Micrognathia	HP:0000347
8626	TP63	High forehead	HP:0000348
8626	TP63	Central diabetes insipidus	HP:0000863
8626	TP63	Microtia	HP:0008551
8626	TP63	Skin ulcer	HP:0200042
8626	TP63	Hearing impairment	HP:0000365
8626	TP63	Vaginal dryness	HP:0031088
8626	TP63	Abnormality of the middle ear	HP:0000370
8626	TP63	External ear malformation	HP:0008572
8626	TP63	Aplasia/Hypoplasia of the skin	HP:0008065
8626	TP63	Aplasia/Hypoplasia of the thumb	HP:0009601
8626	TP63	Oligodactyly	HP:0012165
8626	TP63	Sparse hair	HP:0008070
8626	TP63	Multiple cafe-au-lait spots	HP:0007565
8626	TP63	Recurrent otitis media	HP:0000403
8626	TP63	Cleft hard palate	HP:0410005
8626	TP63	Conductive hearing impairment	HP:0000405
8626	TP63	Sensorineural hearing impairment	HP:0000407
8626	TP63	Proximal placement of thumb	HP:0009623
8626	TP63	Protruding ear	HP:0000411
8626	TP63	Atresia of the external auditory canal	HP:0000413
8626	TP63	Ectrodactyly	HP:0100257
8626	TP63	Cleft lip	HP:0410030
8626	TP63	Prominent nasal bridge	HP:0000426
8626	TP63	Aplasia/Hypoplasia of metatarsal bones	HP:0001964
8626	TP63	Underdeveloped nasal alae	HP:0000430
8626	TP63	Breast aplasia	HP:0100783
8626	TP63	Wide nasal bridge	HP:0000431
8626	TP63	Depressed nasal tip	HP:0000437
8626	TP63	Hyperpigmentation of the skin	HP:0000953
8626	TP63	Toenail dysplasia	HP:0100797
8626	TP63	Aplasia/Hypoplasia of the phalanges of the toes	HP:0010173
8626	TP63	Dry skin	HP:0000958
8626	TP63	Fingernail dysplasia	HP:0100798
8626	TP63	Hyperkeratosis	HP:0000962
8626	TP63	Thin skin	HP:0000963
8626	TP63	Eczema	HP:0000964
8626	TP63	Choanal atresia	HP:0000453
8626	TP63	Hypohidrosis	HP:0000966
8626	TP63	Ectodermal dysplasia	HP:0000968
8626	TP63	Freckling	HP:0001480
8626	TP63	Anhidrosis	HP:0000970
8626	TP63	Narrow nose	HP:0000460
8626	TP63	Small, conical teeth	HP:0200141
8626	TP63	Absent hand	HP:0004050
8626	TP63	Wide intermamillary distance	HP:0006610
8626	TP63	Finger syndactyly	HP:0006101
8626	TP63	Urethral stenosis	HP:0008661
8626	TP63	Palmoplantar keratoderma	HP:0000982
8626	TP63	Cutaneous photosensitivity	HP:0000992
8626	TP63	Melanocytic nevus	HP:0000995
8626	TP63	Renal hypoplasia/aplasia	HP:0008678
8626	TP63	Keratitis	HP:0000491
8626	TP63	Hypotrichosis	HP:0001006
8626	TP63	Non-midline cleft lip	HP:0100335
8626	TP63	Blepharitis	HP:0000498
8626	TP63	Ptosis	HP:0000508
8626	TP63	Conjunctivitis	HP:0000509
8626	TP63	Hypoplastic nipples	HP:0002557
8626	TP63	Supernumerary nipple	HP:0002558
435	ASL	Hepatomegaly	HP:0002240
435	ASL	Hyperammonemia	HP:0001987
435	ASL	Cerebral edema	HP:0002181
435	ASL	Autosomal recessive inheritance	HP:0000007
435	ASL	Hypoargininemia	HP:0005961
435	ASL	Hyperglutaminemia	HP:0003217
435	ASL	Oroticaciduria	HP:0003218
435	ASL	Elevated serum aspartate aminotransferase	HP:0031956
435	ASL	Aminoaciduria	HP:0003355
435	ASL	Vomiting	HP:0002013
435	ASL	Trichorrhexis nodosa	HP:0009886
435	ASL	Respiratory alkalosis	HP:0001950
435	ASL	Episodic ammonia intoxication	HP:0001951
435	ASL	Dry hair	HP:0011359
435	ASL	Intellectual disability	HP:0001249
435	ASL	Irritability	HP:0000737
435	ASL	Short stature	HP:0004322
435	ASL	Abnormal hair quantity	HP:0011362
435	ASL	Seizures	HP:0001250
435	ASL	Ataxia	HP:0001251
435	ASL	Failure to thrive	HP:0001508
435	ASL	Lethargy	HP:0001254
435	ASL	Neonatal onset	HP:0003623
435	ASL	Feeding difficulties in infancy	HP:0008872
435	ASL	Coma	HP:0001259
435	ASL	Global developmental delay	HP:0001263
435	ASL	EEG abnormality	HP:0002353
435	ASL	Hepatic fibrosis	HP:0001395
435	ASL	Protein avoidance	HP:0002038
435	ASL	Brittle hair	HP:0002299
8629	JRK	Abnormality of eye movement	HP:0000496
8629	JRK	Status epilepticus	HP:0002133
8629	JRK	Febrile seizures	HP:0002373
8629	JRK	Photosensitive tonic-clonic seizures	HP:0007207
8629	JRK	Morning myoclonic jerks	HP:0007000
8629	JRK	EEG with polyspike wave complexes	HP:0002392
8629	JRK	Absence seizure	HP:0002121
8629	JRK	Abnormality of the mouth	HP:0000153
8629	JRK	Aggressive behavior	HP:0000718
440	ASNS	Feeding difficulties	HP:0011968
440	ASNS	Profound global developmental delay	HP:0012736
440	ASNS	Hyperreflexia	HP:0001347
440	ASNS	Autosomal recessive inheritance	HP:0000007
440	ASNS	Ventriculomegaly	HP:0002119
440	ASNS	Spastic tetraplegia	HP:0002510
440	ASNS	Hypoplasia of the pons	HP:0012110
440	ASNS	Macrotia	HP:0000400
440	ASNS	Encephalopathy	HP:0001298
440	ASNS	Sloping forehead	HP:0000340
440	ASNS	Simplified gyral pattern	HP:0009879
440	ASNS	Large hands	HP:0001176
440	ASNS	Hypsarrhythmia	HP:0002521
440	ASNS	Micrognathia	HP:0000347
440	ASNS	Exaggerated startle response	HP:0002267
440	ASNS	Progressive	HP:0003676
440	ASNS	Hypoplasia of the corpus callosum	HP:0002079
440	ASNS	Delayed myelination	HP:0012448
440	ASNS	Cerebral visual impairment	HP:0100704
440	ASNS	Seizures	HP:0001250
440	ASNS	Failure to thrive	HP:0001508
440	ASNS	Muscular hypotonia of the trunk	HP:0008936
440	ASNS	Long foot	HP:0001833
440	ASNS	Cerebellar hypoplasia	HP:0001321
440	ASNS	Cortical dysplasia	HP:0002539
440	ASNS	Respiratory insufficiency	HP:0002093
440	ASNS	Progressive microcephaly	HP:0000253
254394	MCM9	Primary amenorrhea	HP:0000786
254394	MCM9	Short stature	HP:0004322
254394	MCM9	Decreased body weight	HP:0004325
254394	MCM9	Autosomal recessive inheritance	HP:0000007
254394	MCM9	Delayed skeletal maturation	HP:0002750
443	ASPA	Macrocephaly	HP:0000256
443	ASPA	Opisthotonus	HP:0002179
443	ASPA	Delayed closure of the anterior fontanelle	HP:0001476
443	ASPA	Autosomal recessive inheritance	HP:0000007
443	ASPA	Developmental regression	HP:0002376
443	ASPA	Optic atrophy	HP:0000648
443	ASPA	CNS demyelination	HP:0007305
443	ASPA	Abnormality of visual evoked potentials	HP:0000649
443	ASPA	Mild global developmental delay	HP:0011342
443	ASPA	Generalized-onset seizure	HP:0002197
443	ASPA	Brain atrophy	HP:0012444
443	ASPA	Dysphagia	HP:0002015
443	ASPA	Aplasia/Hypoplasia involving the central nervous system	HP:0002977
443	ASPA	Intellectual disability	HP:0001249
443	ASPA	Seizures	HP:0001250
443	ASPA	Muscular hypotonia	HP:0001252
443	ASPA	Gastroesophageal reflux	HP:0002020
443	ASPA	Lethargy	HP:0001254
443	ASPA	Spasticity	HP:0001257
443	ASPA	Blindness	HP:0000618
443	ASPA	Coma	HP:0001259
443	ASPA	Hearing impairment	HP:0000365
443	ASPA	Delayed speech and language development	HP:0000750
443	ASPA	Global developmental delay	HP:0001263
443	ASPA	EEG abnormality	HP:0002353
443	ASPA	Iris hypopigmentation	HP:0007730
443	ASPA	Sleep disturbance	HP:0002360
443	ASPA	Visual loss	HP:0000572
443	ASPA	Nystagmus	HP:0000639
8635	RNASET2	Athetosis	HP:0002305
8635	RNASET2	Poor speech	HP:0002465
8635	RNASET2	Focal white matter lesions	HP:0007042
8635	RNASET2	Seizures	HP:0001250
8635	RNASET2	Ataxia	HP:0001251
8635	RNASET2	Ventriculomegaly	HP:0002119
8635	RNASET2	Autosomal recessive inheritance	HP:0000007
8635	RNASET2	Doll-like facies	HP:0000295
8635	RNASET2	Abnormal CNS myelination	HP:0011400
8635	RNASET2	Spasticity	HP:0001257
8635	RNASET2	Infantile onset	HP:0003593
8635	RNASET2	Delayed speech and language development	HP:0000750
8635	RNASET2	Severe global developmental delay	HP:0011344
8635	RNASET2	Leukoencephalopathy	HP:0002352
8635	RNASET2	Cerebral calcification	HP:0002514
8635	RNASET2	Dystonia	HP:0001332
8635	RNASET2	Sensorineural hearing impairment	HP:0000407
8635	RNASET2	Microcephaly	HP:0000252
8635	RNASET2	Slow progression	HP:0003677
8635	RNASET2	Nystagmus	HP:0000639
444	ASPH	Prominent nose	HP:0000448
444	ASPH	Iris atrophy	HP:0001089
444	ASPH	Dental malocclusion	HP:0000689
444	ASPH	Large beaked nose	HP:0003683
444	ASPH	Retrognathia	HP:0000278
444	ASPH	Autosomal recessive inheritance	HP:0000007
444	ASPH	Microphthalmia	HP:0000568
444	ASPH	Ectopia lentis	HP:0001083
444	ASPH	Convex nasal ridge	HP:0000444
444	ASPH	Wide nose	HP:0000445
444	ASPH	Downslanted palpebral fissures	HP:0000494
444	ASPH	Abnormal facial shape	HP:0001999
445	ASS1	Hepatomegaly	HP:0002240
445	ASS1	Irritability	HP:0000737
445	ASS1	Intellectual disability	HP:0001249
445	ASS1	Seizures	HP:0001250
445	ASS1	Hyperammonemia	HP:0001987
445	ASS1	Ataxia	HP:0001251
445	ASS1	Failure to thrive	HP:0001508
445	ASS1	Cerebral edema	HP:0002181
445	ASS1	Lethargy	HP:0001254
445	ASS1	Autosomal recessive inheritance	HP:0000007
445	ASS1	Neonatal onset	HP:0003623
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	Cirrhosis	HP:0001394
445	ASS1	Oroticaciduria	HP:0003218
445	ASS1	Protein avoidance	HP:0002038
445	ASS1	Vomiting	HP:0002013
445	ASS1	Respiratory alkalosis	HP:0001950
445	ASS1	Episodic ammonia intoxication	HP:0001951
8642	DCHS1	Clinodactyly	HP:0030084
8642	DCHS1	Wide anterior fontanel	HP:0000260
8642	DCHS1	Autosomal dominant inheritance	HP:0000006
8642	DCHS1	Narrow chest	HP:0000774
8642	DCHS1	Autosomal recessive inheritance	HP:0000007
8642	DCHS1	Anteriorly placed anus	HP:0001545
8642	DCHS1	Generalized hypotonia	HP:0001290
8642	DCHS1	Irregular dentition	HP:0040079
8642	DCHS1	Malar flattening	HP:0000272
8642	DCHS1	Conductive hearing impairment	HP:0000405
8642	DCHS1	Pachygyria	HP:0001302
8642	DCHS1	Sensorineural hearing impairment	HP:0000407
8642	DCHS1	Simplified gyral pattern	HP:0009879
8642	DCHS1	Midface retrusion	HP:0011800
8642	DCHS1	Downturned corners of mouth	HP:0002714
8642	DCHS1	Atresia of the external auditory canal	HP:0000413
8642	DCHS1	Epicanthus	HP:0000286
8642	DCHS1	Hypoplasia of the corpus callosum	HP:0002079
8642	DCHS1	Wide cranial sutures	HP:0010537
8642	DCHS1	Osteopenia	HP:0000938
8642	DCHS1	Hypospadias	HP:0000047
8642	DCHS1	Wide nasal bridge	HP:0000431
8642	DCHS1	Dental malocclusion	HP:0000689
8642	DCHS1	Tented upper lip vermilion	HP:0010804
8642	DCHS1	Cutaneous finger syndactyly	HP:0010554
8642	DCHS1	Short 4th metacarpal	HP:0010044
8642	DCHS1	Hypertelorism	HP:0000316
8642	DCHS1	Feeding difficulties	HP:0011968
8642	DCHS1	Sacral dimple	HP:0000960
8642	DCHS1	Blepharophimosis	HP:0000581
8642	DCHS1	Hypoplasia of the maxilla	HP:0000327
8642	DCHS1	Short palpebral fissure	HP:0012745
8642	DCHS1	Short fourth metatarsal	HP:0004689
8642	DCHS1	Narrow forehead	HP:0000341
8642	DCHS1	Renal hypoplasia	HP:0000089
8642	DCHS1	High palate	HP:0000218
8642	DCHS1	Scoliosis	HP:0002650
8642	DCHS1	Micrognathia	HP:0000347
8642	DCHS1	Tracheomalacia	HP:0002779
8642	DCHS1	Skeletal dysplasia	HP:0002652
8642	DCHS1	Intellectual disability	HP:0001249
8642	DCHS1	Mitral valve prolapse	HP:0001634
8642	DCHS1	Talipes equinovarus	HP:0001762
8642	DCHS1	Growth delay	HP:0001510
8642	DCHS1	Anal atresia	HP:0002023
8642	DCHS1	Microtia	HP:0008551
8642	DCHS1	Gray matter heterotopia	HP:0002282
8642	DCHS1	Joint laxity	HP:0001388
8642	DCHS1	Mitral regurgitation	HP:0001653
8642	DCHS1	Age-dependent penetrance	HP:0003831
8642	DCHS1	Congenital onset	HP:0003577
8642	DCHS1	Ptosis	HP:0000508
8642	DCHS1	Short clavicles	HP:0000894
8643	PTCH2	Macrocephaly	HP:0000256
8643	PTCH2	Cardiac rhabdomyoma	HP:0009729
8643	PTCH2	Vertebral fusion	HP:0002948
8643	PTCH2	Brachydactyly	HP:0001156
8643	PTCH2	Short ribs	HP:0000773
8643	PTCH2	Autosomal dominant inheritance	HP:0000006
8643	PTCH2	Cataract	HP:0000518
8643	PTCH2	Autosomal recessive inheritance	HP:0000007
8643	PTCH2	Arachnodactyly	HP:0001166
8643	PTCH2	Sprengel anomaly	HP:0000912
8643	PTCH2	Heterogeneous	HP:0001425
8643	PTCH2	Coarse facial features	HP:0000280
8643	PTCH2	Broad face	HP:0000283
8643	PTCH2	Cryptorchidism	HP:0000028
8643	PTCH2	Carious teeth	HP:0000670
8643	PTCH2	Epicanthus	HP:0000286
8643	PTCH2	Milia	HP:0001056
8643	PTCH2	Hypogonadotrophic hypogonadism	HP:0000044
8643	PTCH2	Mandibular prognathia	HP:0000303
8643	PTCH2	Cleft palate	HP:0000175
8643	PTCH2	Wide nasal bridge	HP:0000431
8643	PTCH2	Short distal phalanx of the thumb	HP:0009650
8643	PTCH2	Supernumerary ribs	HP:0005815
8643	PTCH2	Irregular ossification of hand bones	HP:0004280
8643	PTCH2	Microphthalmia	HP:0000568
8643	PTCH2	Abnormality of the sense of smell	HP:0004408
8643	PTCH2	Hamartomatous stomach polyps	HP:0004795
8643	PTCH2	Short 4th metacarpal	HP:0010044
8643	PTCH2	Hypertelorism	HP:0000316
8643	PTCH2	Kyphoscoliosis	HP:0002751
8643	PTCH2	Medulloblastoma	HP:0002885
8643	PTCH2	Bridged sella turcica	HP:0005449
8643	PTCH2	Polydactyly	HP:0010442
8643	PTCH2	Cleft upper lip	HP:0000204
8643	PTCH2	Abnormality of the neck	HP:0000464
8643	PTCH2	Cerebral calcification	HP:0002514
8643	PTCH2	Calcification of falx cerebri	HP:0005462
8643	PTCH2	Down-sloping shoulders	HP:0200021
8643	PTCH2	Frontal bossing	HP:0002007
8643	PTCH2	Scoliosis	HP:0002650
8643	PTCH2	Intellectual disability	HP:0001249
8643	PTCH2	Melanocytic nevus	HP:0000995
8643	PTCH2	Iris coloboma	HP:0000612
8643	PTCH2	Ovarian carcinoma	HP:0025318
8643	PTCH2	Vertebral wedging	HP:0008422
8643	PTCH2	Strabismus	HP:0000486
8643	PTCH2	Neoplasm	HP:0002664
8643	PTCH2	Odontogenic keratocysts of the jaw	HP:0010603
8643	PTCH2	Hydrocephalus	HP:0000238
8643	PTCH2	Spina bifida	HP:0002414
8643	PTCH2	Basal cell carcinoma	HP:0002671
8643	PTCH2	Skin tags	HP:0010609
8643	PTCH2	Palmar pits	HP:0010610
8643	PTCH2	Parietal bossing	HP:0000242
8643	PTCH2	Variable expressivity	HP:0003828
8643	PTCH2	Plantar pits	HP:0010612
8643	PTCH2	Incomplete penetrance	HP:0003829
8643	PTCH2	Glaucoma	HP:0000501
8643	PTCH2	Motor delay	HP:0001270
8643	PTCH2	Orbital cyst	HP:0001144
8643	PTCH2	Brachycephaly	HP:0000248
8643	PTCH2	Cardiac fibroma	HP:0010617
8643	PTCH2	Hemivertebrae	HP:0002937
8643	PTCH2	Ovarian fibroma	HP:0010618
8643	PTCH2	Telecanthus	HP:0000506
8643	PTCH2	Bifid ribs	HP:0000892
8643	PTCH2	Abnormality of the sternum	HP:0000766
57798	GATAD1	EMG abnormality	HP:0003457
57798	GATAD1	Abnormality of neutrophils	HP:0001874
57798	GATAD1	Lipoatrophy	HP:0100578
57798	GATAD1	Congestive heart failure	HP:0001635
57798	GATAD1	Elevated serum creatine kinase	HP:0003236
57798	GATAD1	Palmoplantar keratoderma	HP:0000982
57798	GATAD1	Atrial fibrillation	HP:0005110
57798	GATAD1	Sensorineural hearing impairment	HP:0000407
57798	GATAD1	Autosomal recessive inheritance	HP:0000007
57798	GATAD1	Dilated cardiomyopathy	HP:0001644
57798	GATAD1	Myopathy	HP:0003198
246213	SLC17A8	Variable expressivity	HP:0003828
246213	SLC17A8	Autosomal dominant inheritance	HP:0000006
246213	SLC17A8	Sensorineural hearing impairment	HP:0000407
8647	ABCB11	Hepatomegaly	HP:0002240
8647	ABCB11	Short stature	HP:0004322
8647	ABCB11	Failure to thrive	HP:0001508
8647	ABCB11	Fat malabsorption	HP:0002630
8647	ABCB11	Autosomal recessive inheritance	HP:0000007
8647	ABCB11	Infantile onset	HP:0003593
8647	ABCB11	Death in childhood	HP:0003819
8647	ABCB11	Splenomegaly	HP:0001744
8647	ABCB11	Cirrhosis	HP:0001394
8647	ABCB11	Elevated alkaline phosphatase	HP:0003155
8647	ABCB11	Intermittent jaundice	HP:0001046
8647	ABCB11	Jaundice	HP:0000952
8647	ABCB11	Cholelithiasis	HP:0001081
8647	ABCB11	Hepatocellular carcinoma	HP:0001402
8647	ABCB11	Conjugated hyperbilirubinemia	HP:0002908
8647	ABCB11	Pruritus	HP:0000989
8647	ABCB11	Diarrhea	HP:0002014
8647	ABCB11	Intrahepatic cholestasis	HP:0001406
65993	MRPS34	Absent speech	HP:0001344
65993	MRPS34	Feeding difficulties	HP:0011968
65993	MRPS34	Exotropia	HP:0000577
65993	MRPS34	Constipation	HP:0002019
65993	MRPS34	Gastroesophageal reflux	HP:0002020
65993	MRPS34	Increased serum lactate	HP:0002151
65993	MRPS34	Optic atrophy	HP:0000648
65993	MRPS34	Developmental regression	HP:0002376
65993	MRPS34	Spasticity	HP:0001257
65993	MRPS34	Generalized hypotonia	HP:0001290
65993	MRPS34	Inability to walk	HP:0002540
65993	MRPS34	Global developmental delay	HP:0001263
65993	MRPS34	Choreoathetosis	HP:0001266
65993	MRPS34	Dystonia	HP:0001332
65993	MRPS34	Increased CSF lactate	HP:0002490
65993	MRPS34	Progressive	HP:0003676
65993	MRPS34	Ptosis	HP:0000508
65993	MRPS34	Nystagmus	HP:0000639
65992	DDRGK1	Hepatomegaly	HP:0002240
65992	DDRGK1	Short femoral neck	HP:0100864
65992	DDRGK1	Narrow vertebral interpedicular distance	HP:0008450
65992	DDRGK1	Short thorax	HP:0010306
65992	DDRGK1	Short iliac bones	HP:0100866
65992	DDRGK1	Abnormality of the ribs	HP:0000772
65992	DDRGK1	Short ribs	HP:0000773
65992	DDRGK1	Abdominal distention	HP:0003270
65992	DDRGK1	Flared metaphysis	HP:0003015
65992	DDRGK1	Autosomal recessive inheritance	HP:0000007
65992	DDRGK1	Metaphyseal widening	HP:0003016
65992	DDRGK1	Gait disturbance	HP:0001288
65992	DDRGK1	Abnormality of the abdominal wall	HP:0004298
65992	DDRGK1	Central vertebral hypoplasia	HP:0008463
65992	DDRGK1	Splenomegaly	HP:0001744
65992	DDRGK1	Metaphyseal irregularity	HP:0003025
65992	DDRGK1	Wormian bones	HP:0002645
65992	DDRGK1	Short neck	HP:0000470
65992	DDRGK1	Short femur	HP:0003097
65992	DDRGK1	Genu varum	HP:0002970
65992	DDRGK1	Spondyloepimetaphyseal dysplasia	HP:0002651
65992	DDRGK1	Fibular overgrowth	HP:0003099
65992	DDRGK1	Platyspondyly	HP:0000926
65992	DDRGK1	Abnormal epiphyseal ossification	HP:0010656
65992	DDRGK1	Depressed nasal bridge	HP:0005280
65992	DDRGK1	Vertebral hypoplasia	HP:0008417
65992	DDRGK1	Limb undergrowth	HP:0009826
65992	DDRGK1	Delayed epiphyseal ossification	HP:0002663
65992	DDRGK1	Micromelia	HP:0002983
65992	DDRGK1	Thin vermilion border	HP:0000233
65992	DDRGK1	Disproportionate short stature	HP:0003498
65992	DDRGK1	Abnormality of epiphysis morphology	HP:0005930
65992	DDRGK1	Joint laxity	HP:0001388
65992	DDRGK1	Flat acetabular roof	HP:0003180
65992	DDRGK1	Narrow greater sacrosciatic notches	HP:0003375
65992	DDRGK1	Severe short stature	HP:0003510
65992	DDRGK1	Bell-shaped thorax	HP:0001591
65992	DDRGK1	Round face	HP:0000311
65992	DDRGK1	Lumbar hyperlordosis	HP:0002938
65992	DDRGK1	Coxa vara	HP:0002812
65992	DDRGK1	Joint hyperflexibility	HP:0005692
147912	SIX5	Preauricular skin tag	HP:0000384
147912	SIX5	Multicystic kidney dysplasia	HP:0000003
147912	SIX5	Hemifacial hypoplasia	HP:0011332
147912	SIX5	Branchial cyst	HP:0009796
147912	SIX5	Abnormality of the middle ear ossicles	HP:0004452
147912	SIX5	Facial palsy	HP:0010628
147912	SIX5	Autosomal dominant inheritance	HP:0000006
147912	SIX5	Renal hypoplasia/aplasia	HP:0008678
147912	SIX5	Hypoplasia of the cochlea	HP:0008586
147912	SIX5	Ureteropelvic junction obstruction	HP:0000074
147912	SIX5	Vesicoureteral reflux	HP:0000076
147912	SIX5	Hearing impairment	HP:0000365
147912	SIX5	Renal dysplasia	HP:0000110
147912	SIX5	Cleft palate	HP:0000175
147912	SIX5	Stenosis of the external auditory canal	HP:0000402
147912	SIX5	Renal insufficiency	HP:0000083
147912	SIX5	Retrognathia	HP:0000278
147912	SIX5	Abnormal lacrimal duct morphology	HP:0011481
147912	SIX5	External ear malformation	HP:0008572
147912	SIX5	Enlarged cochlear aqueduct	HP:0011388
147912	SIX5	Atresia of the external auditory canal	HP:0000413
147912	SIX5	Hydronephrosis	HP:0000126
8653	DDX3Y	Male infertility	HP:0003251
8653	DDX3Y	Non-obstructive azoospermia	HP:0011961
8653	DDX3Y	Y-linked inheritance	HP:0001450
8653	DDX3Y	Azoospermia	HP:0000027
8653	DDX3Y	Cryptorchidism	HP:0000028
8653	DDX3Y	Oligospermia	HP:0000798
8653	DDX3Y	Decreased testicular size	HP:0008734
462	SERPINC1	Deep venous thrombosis	HP:0002625
462	SERPINC1	Recurrent thrombophlebitis	HP:0004419
462	SERPINC1	Autosomal dominant inheritance	HP:0000006
462	SERPINC1	Autosomal recessive inheritance	HP:0000007
462	SERPINC1	Reduced antithrombin III activity	HP:0001976
462	SERPINC1	Cerebral venous thrombosis	HP:0005305
462	SERPINC1	Arterial occlusion	HP:0025324
462	SERPINC1	Pulmonary embolism	HP:0002204
463	ZFHX3	Somatic mutation	HP:0001428
463	ZFHX3	Autosomal dominant inheritance	HP:0000006
463	ZFHX3	Prostate cancer	HP:0012125
65998	C11ORF95	Seizures	HP:0001250
65998	C11ORF95	Supratentorial neoplasm	HP:0030693
65998	C11ORF95	Ovarian neoplasm	HP:0100615
65998	C11ORF95	Gait disturbance	HP:0001288
65998	C11ORF95	Ependymoma	HP:0002888
65998	C11ORF95	Neoplasm of the breast	HP:0100013
65998	C11ORF95	Neoplasm of the lung	HP:0100526
65998	C11ORF95	Neoplasm of the liver	HP:0002896
65998	C11ORF95	Pain	HP:0012531
65998	C11ORF95	Abnormal cell morphology	HP:0025461
65998	C11ORF95	Dysesthesia	HP:0012534
65998	C11ORF95	Distal muscle weakness	HP:0002460
65998	C11ORF95	Migraine	HP:0002076
65998	C11ORF95	Vomiting	HP:0002013
65998	C11ORF95	Spinal cord tumor	HP:0010302
8659	ALDH4A1	Intellectual disability	HP:0001249
8659	ALDH4A1	Prolinuria	HP:0003137
8659	ALDH4A1	Seizures	HP:0001250
8659	ALDH4A1	Hyperglycinuria	HP:0003108
8659	ALDH4A1	Hyperprolinemia	HP:0008358
8659	ALDH4A1	Autosomal recessive inheritance	HP:0000007
8659	ALDH4A1	Hydroxyprolinuria	HP:0003080
471	ATIC	Seizures	HP:0001250
471	ATIC	Congenital blindness	HP:0007875
471	ATIC	Muscular hypotonia	HP:0001252
471	ATIC	Autosomal recessive inheritance	HP:0000007
471	ATIC	Optic atrophy	HP:0000648
471	ATIC	Prominent nasal bridge	HP:0000426
471	ATIC	Generalized hypotonia	HP:0001290
471	ATIC	Intellectual disability, profound	HP:0002187
471	ATIC	Anteverted nares	HP:0000463
471	ATIC	Intellectual disability, severe	HP:0010864
471	ATIC	Low-set ears	HP:0000369
471	ATIC	Abnormality of metabolism/homeostasis	HP:0001939
471	ATIC	Prominent forehead	HP:0011220
471	ATIC	Abnormality of the skin	HP:0000951
471	ATIC	Frontal bossing	HP:0002007
471	ATIC	Brachycephaly	HP:0000248
471	ATIC	Clitoral hypertrophy	HP:0008665
471	ATIC	Wide mouth	HP:0000154
471	ATIC	Thin upper lip vermilion	HP:0000219
471	ATIC	Atrial septal defect	HP:0001631
471	ATIC	Fused labia minora	HP:0000063
472	ATM	Aplasia/Hypoplasia of the skin	HP:0008065
472	ATM	Skeletal muscle atrophy	HP:0003202
472	ATM	Female hypogonadism	HP:0000134
472	ATM	Autosomal recessive inheritance	HP:0000007
472	ATM	Gait disturbance	HP:0001288
472	ATM	Hypoplasia of the thymus	HP:0000778
472	ATM	Conjunctival telangiectasia	HP:0000524
472	ATM	Multiple cafe-au-lait spots	HP:0007565
472	ATM	Abnormality of the gastrointestinal tract	HP:0011024
472	ATM	Polycystic ovaries	HP:0000147
472	ATM	Aplasia/Hypoplasia of the thymus	HP:0010515
472	ATM	Abnormality of chromosome stability	HP:0003220
472	ATM	Recurrent bronchitis	HP:0002837
472	ATM	Fever	HP:0001945
472	ATM	Decreased circulating IgG2 level	HP:0008348
472	ATM	Lymphadenopathy	HP:0002716
472	ATM	Hodgkin lymphoma	HP:0012189
472	ATM	Recurrent respiratory infections	HP:0002205
472	ATM	Decreased proportion of CD4-positive T cells	HP:0005407
472	ATM	B-cell lymphoma	HP:0012191
472	ATM	Glucose intolerance	HP:0001952
472	ATM	Decreased circulating IgA level	HP:0002720
472	ATM	Weight loss	HP:0001824
472	ATM	Reduced tendon reflexes	HP:0001315
472	ATM	Abnormal testis morphology	HP:0000035
472	ATM	Premature graying of hair	HP:0002216
472	ATM	Diabetes mellitus	HP:0000819
472	ATM	Dystonia	HP:0001332
472	ATM	Delayed puberty	HP:0000823
472	ATM	Myoclonus	HP:0001336
472	ATM	Tremor	HP:0001337
472	ATM	Abnormality of bone marrow cell morphology	HP:0005561
472	ATM	Abnormal hair morphology	HP:0001595
472	ATM	Cafe-au-lait spot	HP:0000957
472	ATM	Bronchiectasis	HP:0002110
472	ATM	Cognitive impairment	HP:0100543
472	ATM	Splenomegaly	HP:0001744
472	ATM	Decreased antibody level in blood	HP:0004313
472	ATM	Type II diabetes mellitus	HP:0005978
472	ATM	Fatigue	HP:0012378
472	ATM	Abnormal spermatogenesis	HP:0008669
472	ATM	Elevated hepatic transaminase	HP:0002910
472	ATM	Hypopigmentation of hair	HP:0005599
472	ATM	Lymphopenia	HP:0001888
472	ATM	Short stature	HP:0004322
472	ATM	Seizures	HP:0001250
472	ATM	Mucosal telangiectasiae	HP:0100579
472	ATM	Ataxia	HP:0001251
472	ATM	Failure to thrive	HP:0001508
472	ATM	Strabismus	HP:0000486
472	ATM	Neoplasm	HP:0002664
472	ATM	Telangiectasia of the skin	HP:0100585
472	ATM	Lymphoma	HP:0002665
472	ATM	Spasticity	HP:0001257
472	ATM	Dysarthria	HP:0001260
472	ATM	Defective B cell differentiation	HP:0005357
472	ATM	Elevated alpha-fetoprotein	HP:0006254
472	ATM	Choreoathetosis	HP:0001266
472	ATM	Leukemia	HP:0001909
472	ATM	Sinusitis	HP:0000246
472	ATM	Anorexia	HP:0002039
472	ATM	Non-Hodgkin lymphoma	HP:0012539
472	ATM	Cellular immunodeficiency	HP:0005374
472	ATM	Nystagmus	HP:0000639
57817	HAMP	Arthropathy	HP:0003040
57817	HAMP	Hepatomegaly	HP:0002240
57817	HAMP	Impotence	HP:0000802
57817	HAMP	Congestive heart failure	HP:0001635
57817	HAMP	Lethargy	HP:0001254
57817	HAMP	Cardiomyopathy	HP:0001638
57817	HAMP	Hypogonadism	HP:0000135
57817	HAMP	Autosomal recessive inheritance	HP:0000007
57817	HAMP	Osteoporosis	HP:0000939
57817	HAMP	Dilated cardiomyopathy	HP:0001644
57817	HAMP	Muscle weakness	HP:0001324
57817	HAMP	Elevated transferrin saturation	HP:0012463
57817	HAMP	Anemia	HP:0001903
57817	HAMP	Generalized hyperpigmentation	HP:0007440
57817	HAMP	Splenomegaly	HP:0001744
57817	HAMP	Increased serum ferritin	HP:0003281
57817	HAMP	Cirrhosis	HP:0001394
57817	HAMP	Diabetes mellitus	HP:0000819
57817	HAMP	Congenital hepatic fibrosis	HP:0002612
57817	HAMP	Abnormality of iron homeostasis	HP:0011031
57817	HAMP	Increased serum iron	HP:0003452
57817	HAMP	Abnormality of endocrine pancreas physiology	HP:0012093
57817	HAMP	Elevated hepatic transaminase	HP:0002910
473	RERE	Autosomal dominant inheritance	HP:0000006
473	RERE	Cataract	HP:0000518
473	RERE	Gait disturbance	HP:0001288
473	RERE	Infantile onset	HP:0003593
473	RERE	Generalized hypotonia	HP:0001290
473	RERE	Delayed cranial suture closure	HP:0000270
473	RERE	Hemiplegia/hemiparesis	HP:0004374
473	RERE	Midface retrusion	HP:0011800
473	RERE	Abnormality of the anus	HP:0004378
473	RERE	Cryptorchidism	HP:0000028
473	RERE	Epicanthus	HP:0000286
473	RERE	Hypoplasia of the corpus callosum	HP:0002079
473	RERE	Polyphagia	HP:0002591
473	RERE	Hypoplasia of penis	HP:0008736
473	RERE	Foot polydactyly	HP:0001829
473	RERE	Cerebellar vermis hypoplasia	HP:0001320
473	RERE	Hypospadias	HP:0000047
473	RERE	EEG abnormality	HP:0002353
473	RERE	High hypermetropia	HP:0008499
473	RERE	Pointed chin	HP:0000307
473	RERE	Hypothyroidism	HP:0000821
473	RERE	Abnormality of female external genitalia	HP:0000055
473	RERE	Microphthalmia	HP:0000568
473	RERE	Absent speech	HP:0001344
473	RERE	Blepharophimosis	HP:0000581
473	RERE	Ventriculomegaly	HP:0002119
473	RERE	Cerebral cortical atrophy	HP:0002120
473	RERE	Vesicoureteral reflux	HP:0000076
473	RERE	Coloboma	HP:0000589
473	RERE	Ocular albinism	HP:0001107
473	RERE	Long philtrum	HP:0000343
473	RERE	Spinal canal stenosis	HP:0003416
473	RERE	Scoliosis	HP:0002650
473	RERE	Micrognathia	HP:0000347
473	RERE	Ventricular septal defect	HP:0001629
473	RERE	Tetralogy of Fallot	HP:0001636
473	RERE	Posteriorly rotated ears	HP:0000358
473	RERE	Microtia	HP:0008551
473	RERE	Hip dysplasia	HP:0001385
473	RERE	Patent ductus arteriosus	HP:0001643
473	RERE	Renal cyst	HP:0000107
473	RERE	Joint stiffness	HP:0001387
473	RERE	Dilated cardiomyopathy	HP:0001644
473	RERE	Self-injurious behavior	HP:0100716
473	RERE	11 pairs of ribs	HP:0000878
473	RERE	Low-set, posteriorly rotated ears	HP:0000368
473	RERE	Low-set ears	HP:0000369
473	RERE	Clinodactyly of the 5th finger	HP:0004209
473	RERE	Hepatic steatosis	HP:0001397
473	RERE	Abnormal heart valve morphology	HP:0001654
473	RERE	Bifid ribs	HP:0000892
473	RERE	Hydronephrosis	HP:0000126
473	RERE	Myopathy	HP:0003198
473	RERE	Nystagmus	HP:0000639
473	RERE	Abnormal blistering of the skin	HP:0008066
473	RERE	Brachydactyly	HP:0001156
473	RERE	Rib fusion	HP:0000902
473	RERE	Hypogonadism	HP:0000135
473	RERE	Abnormal cardiac septum morphology	HP:0001671
473	RERE	Optic atrophy	HP:0000648
473	RERE	Camptodactyly of finger	HP:0100490
473	RERE	Conductive hearing impairment	HP:0000405
473	RERE	Sensorineural hearing impairment	HP:0000407
473	RERE	Narrow mouth	HP:0000160
473	RERE	Depressed nasal bridge	HP:0005280
473	RERE	Poor speech	HP:0002465
473	RERE	Cranial nerve paralysis	HP:0006824
473	RERE	Feeding difficulties in infancy	HP:0008872
473	RERE	Wide nasal bridge	HP:0000431
473	RERE	Generalized hirsutism	HP:0002230
473	RERE	Macule	HP:0012733
473	RERE	Neuroblastoma	HP:0003006
473	RERE	Feeding difficulties	HP:0011968
473	RERE	Abnormal intestine morphology	HP:0002242
473	RERE	Annular pancreas	HP:0001734
473	RERE	Depressed nasal ridge	HP:0000457
473	RERE	Autism	HP:0000717
473	RERE	Lower limb asymmetry	HP:0100559
473	RERE	Anteverted nares	HP:0000463
473	RERE	Abnormality of the spleen	HP:0001743
473	RERE	Abnormality of the neck	HP:0000464
473	RERE	Frontal bossing	HP:0002007
473	RERE	Autistic behavior	HP:0000729
473	RERE	Horizontal eyebrow	HP:0011228
473	RERE	Broad eyebrow	HP:0011229
473	RERE	Stereotypy	HP:0000733
473	RERE	Dysphagia	HP:0002015
473	RERE	Intellectual disability	HP:0001249
473	RERE	Short stature	HP:0004322
473	RERE	Seizures	HP:0001250
473	RERE	Constipation	HP:0002019
473	RERE	Gastroesophageal reflux	HP:0002020
473	RERE	Failure to thrive	HP:0001508
473	RERE	Muscular hypotonia	HP:0001252
473	RERE	Pyloric stenosis	HP:0002021
473	RERE	Strabismus	HP:0000486
473	RERE	Intrauterine growth retardation	HP:0001511
473	RERE	Obesity	HP:0001513
473	RERE	Deeply set eye	HP:0000490
473	RERE	Dysarthria	HP:0001260
473	RERE	Short foot	HP:0001773
473	RERE	Downslanted palpebral fissures	HP:0000494
473	RERE	Global developmental delay	HP:0001263
473	RERE	Telangiectasia	HP:0001009
473	RERE	Brachycephaly	HP:0000248
473	RERE	Kyphosis	HP:0002808
473	RERE	Visual impairment	HP:0000505
473	RERE	Aortic arch aneurysm	HP:0005113
473	RERE	Agenesis of corpus callosum	HP:0001274
473	RERE	Microcephaly	HP:0000252
8665	EIF3F	Seizures	HP:0001250
476	ATP1A1	Renal potassium wasting	HP:0000128
476	ATP1A1	Muscle spasm	HP:0003394
476	ATP1A1	Foot dorsiflexor weakness	HP:0009027
476	ATP1A1	Areflexia	HP:0001284
476	ATP1A1	Hypomagnesemia	HP:0002917
476	ATP1A1	Sensorimotor neuropathy	HP:0007141
476	ATP1A1	Polyuria	HP:0000103
476	ATP1A1	Ventriculomegaly	HP:0002119
476	ATP1A1	Self-biting	HP:0012169
476	ATP1A1	Global developmental delay	HP:0001263
476	ATP1A1	Hyperactivity	HP:0000752
476	ATP1A1	Steppage gait	HP:0003376
476	ATP1A1	Hyporeflexia	HP:0001265
476	ATP1A1	Status epilepticus	HP:0002133
476	ATP1A1	Generalized-onset seizure	HP:0002197
476	ATP1A1	Slow progression	HP:0003677
476	ATP1A1	Renal magnesium wasting	HP:0005567
477	ATP1A2	Pigmentary retinopathy	HP:0000580
477	ATP1A2	Autosomal dominant inheritance	HP:0000006
477	ATP1A2	Confusion	HP:0001289
477	ATP1A2	Apraxia	HP:0002186
477	ATP1A2	Diplopia	HP:0000651
477	ATP1A2	Episodic quadriplegia	HP:0200072
477	ATP1A2	Aphasia	HP:0002381
477	ATP1A2	Heterogeneous	HP:0001425
477	ATP1A2	Vertigo	HP:0002321
477	ATP1A2	Episodic ataxia	HP:0002131
477	ATP1A2	Generalized tonic-clonic seizures	HP:0002069
477	ATP1A2	Hemiplegia/hemiparesis	HP:0004374
477	ATP1A2	Sensorineural hearing impairment	HP:0000407
477	ATP1A2	Fever	HP:0001945
477	ATP1A2	Drowsiness	HP:0002329
477	ATP1A2	Migraine with aura	HP:0002077
477	ATP1A2	Intellectual disability	HP:0001249
477	ATP1A2	Seizures	HP:0001250
477	ATP1A2	Episodic hemiplegia	HP:0012194
477	ATP1A2	Ataxia	HP:0001251
477	ATP1A2	Transient unilateral blurring of vision	HP:0001125
477	ATP1A2	Coma	HP:0001259
477	ATP1A2	Dysarthria	HP:0001260
477	ATP1A2	Blurred vision	HP:0000622
477	ATP1A2	EEG abnormality	HP:0002353
477	ATP1A2	Choreoathetosis	HP:0001266
477	ATP1A2	Mental deterioration	HP:0001268
477	ATP1A2	Dystonia	HP:0001332
477	ATP1A2	Dysphasia	HP:0002357
477	ATP1A2	Incomplete penetrance	HP:0003829
477	ATP1A2	Hemiparesis	HP:0001269
477	ATP1A2	Abnormality of movement	HP:0100022
477	ATP1A2	Hemiplegia	HP:0002301
477	ATP1A2	Nystagmus	HP:0000639
478	ATP1A3	Drooling	HP:0002307
478	ATP1A3	Areflexia	HP:0001284
478	ATP1A3	Autosomal dominant inheritance	HP:0000006
478	ATP1A3	Incoordination	HP:0002311
478	ATP1A3	Optic atrophy	HP:0000648
478	ATP1A3	Generalized hypotonia	HP:0001290
478	ATP1A3	Episodic quadriplegia	HP:0200072
478	ATP1A3	Unsteady gait	HP:0002317
478	ATP1A3	Progressive visual loss	HP:0000529
478	ATP1A3	Gait ataxia	HP:0002066
478	ATP1A3	Resting tremor	HP:0002322
478	ATP1A3	Encephalopathy	HP:0001298
478	ATP1A3	Limb dystonia	HP:0002451
478	ATP1A3	Bradykinesia	HP:0002067
478	ATP1A3	Parkinsonism	HP:0001300
478	ATP1A3	Sensorineural hearing impairment	HP:0000407
478	ATP1A3	Progressive sensorineural hearing impairment	HP:0000408
478	ATP1A3	Fever	HP:0001945
478	ATP1A3	Dysmetria	HP:0001310
478	ATP1A3	Truncal ataxia	HP:0002078
478	ATP1A3	Muscle weakness	HP:0001324
478	ATP1A3	Dystonia	HP:0001332
478	ATP1A3	Cognitive impairment	HP:0100543
478	ATP1A3	Episodic generalized hypotonia	HP:0006852
478	ATP1A3	Young adult onset	HP:0011462
478	ATP1A3	Emotional lability	HP:0000712
478	ATP1A3	Depressivity	HP:0000716
478	ATP1A3	Hypomimic face	HP:0000338
478	ATP1A3	Episodic ataxia	HP:0002131
478	ATP1A3	Status epilepticus	HP:0002133
478	ATP1A3	Torticollis	HP:0000473
478	ATP1A3	Autistic behavior	HP:0000729
478	ATP1A3	Dysphagia	HP:0002015
478	ATP1A3	Pes cavus	HP:0001761
478	ATP1A3	Intellectual disability	HP:0001249
478	ATP1A3	Seizures	HP:0001250
478	ATP1A3	Anxiety	HP:0000739
478	ATP1A3	Ataxia	HP:0001251
478	ATP1A3	Blindness	HP:0000618
478	ATP1A3	Dysarthria	HP:0001260
478	ATP1A3	Global developmental delay	HP:0001263
478	ATP1A3	Abnormality of eye movement	HP:0000496
478	ATP1A3	Choreoathetosis	HP:0001266
478	ATP1A3	Mental deterioration	HP:0001268
478	ATP1A3	Incomplete penetrance	HP:0003829
478	ATP1A3	Hemiparesis	HP:0001269
478	ATP1A3	Motor delay	HP:0001270
478	ATP1A3	Cerebellar atrophy	HP:0001272
478	ATP1A3	Mutism	HP:0002300
478	ATP1A3	Postural instability	HP:0002172
478	ATP1A3	Hemiplegia	HP:0002301
478	ATP1A3	Nystagmus	HP:0000639
57822	GRHL3	Bifid uvula	HP:0000193
57822	GRHL3	Anodontia	HP:0000674
57822	GRHL3	Lower lip pit	HP:0000196
57822	GRHL3	Autosomal dominant inheritance	HP:0000006
57822	GRHL3	Cleft lip	HP:0410030
57822	GRHL3	Nasal, dysarthic speech	HP:0008376
57822	GRHL3	Submucous cleft soft palate	HP:0011819
57822	GRHL3	Cleft upper lip	HP:0000204
57822	GRHL3	Hypodontia	HP:0000668
57822	GRHL3	Abnormal salivary gland morphology	HP:0010286
57822	GRHL3	Cleft palate	HP:0000175
8671	SLC4A4	Proximal renal tubular acidosis	HP:0002049
8671	SLC4A4	Intellectual disability	HP:0001249
8671	SLC4A4	Glaucoma	HP:0000501
8671	SLC4A4	Cataract	HP:0000518
8671	SLC4A4	Growth delay	HP:0001510
8671	SLC4A4	Autosomal recessive inheritance	HP:0000007
8671	SLC4A4	Band keratopathy	HP:0000585
8671	SLC4A4	Increased red cell osmotic resistance	HP:0005546
8671	SLC4A4	Hyperchloremic acidosis	HP:0001995
8671	SLC4A4	Bicarbonate-wasting renal tubular acidosis	HP:0004910
246243	RNASEH1	Feeding difficulties	HP:0011968
246243	RNASEH1	Right bundle branch block	HP:0011712
246243	RNASEH1	Skeletal muscle atrophy	HP:0003202
246243	RNASEH1	Hyperreflexia	HP:0001347
246243	RNASEH1	Pigmentary retinopathy	HP:0000580
246243	RNASEH1	Autosomal recessive inheritance	HP:0000007
246243	RNASEH1	Neck flexor weakness	HP:0003722
246243	RNASEH1	Unsteady gait	HP:0002317
246243	RNASEH1	Progressive external ophthalmoplegia	HP:0000590
246243	RNASEH1	Bilateral ptosis	HP:0001488
246243	RNASEH1	Abnormal pyramidal sign	HP:0007256
246243	RNASEH1	Exercise intolerance	HP:0003546
246243	RNASEH1	Exercise-induced myalgia	HP:0003738
246243	RNASEH1	Areflexia of lower limbs	HP:0002522
246243	RNASEH1	High palate	HP:0000218
246243	RNASEH1	Scoliosis	HP:0002650
246243	RNASEH1	Migraine	HP:0002076
246243	RNASEH1	Progressive	HP:0003676
246243	RNASEH1	Gait imbalance	HP:0002141
246243	RNASEH1	Abnormal atrioventricular conduction	HP:0005150
246243	RNASEH1	Difficulty climbing stairs	HP:0003551
246243	RNASEH1	Dysphagia	HP:0002015
246243	RNASEH1	Babinski sign	HP:0003487
246243	RNASEH1	External ophthalmoplegia	HP:0000544
246243	RNASEH1	Ataxia	HP:0001251
246243	RNASEH1	Elevated serum creatine kinase	HP:0003236
246243	RNASEH1	Sensorimotor neuropathy	HP:0007141
246243	RNASEH1	Limb dysmetria	HP:0002406
246243	RNASEH1	Cardiomyopathy	HP:0001638
246243	RNASEH1	Increased serum lactate	HP:0002151
246243	RNASEH1	Limb muscle weakness	HP:0003690
246243	RNASEH1	Dysarthria	HP:0001260
246243	RNASEH1	Muscle weakness	HP:0001324
246243	RNASEH1	Hearing impairment	HP:0000365
246243	RNASEH1	Loss of ability to walk	HP:0006957
246243	RNASEH1	Respiratory insufficiency	HP:0002093
246243	RNASEH1	Weakness of facial musculature	HP:0030319
246243	RNASEH1	Fatigable weakness of respiratory muscles	HP:0030196
246243	RNASEH1	Esotropia	HP:0000565
246243	RNASEH1	Deficit in phonologic short-term memory	HP:0002549
246243	RNASEH1	Cerebellar atrophy	HP:0001272
246243	RNASEH1	Psychomotor deterioration	HP:0002361
246243	RNASEH1	Respiratory insufficiency due to muscle weakness	HP:0002747
246243	RNASEH1	Ptosis	HP:0000508
246243	RNASEH1	Postural instability	HP:0002172
246243	RNASEH1	Abnormality of the spinocerebellar tracts	HP:0003133
246243	RNASEH1	Myalgia	HP:0003326
246243	RNASEH1	Cognitive impairment	HP:0100543
8675	STX16	Low urinary cyclic AMP response to PTH administration	HP:0003456
8675	STX16	Short metacarpal	HP:0010049
8675	STX16	Abdominal symptom	HP:0011458
8675	STX16	Muscle spasm	HP:0003394
8675	STX16	Increased bone density with cystic changes	HP:0005700
8675	STX16	Brachydactyly	HP:0001156
8675	STX16	Cortical subperiosteal resorption of humeral metaphyses	HP:0003909
8675	STX16	Cataract	HP:0000518
8675	STX16	Autosomal dominant inheritance	HP:0000006
8675	STX16	Paresthesia	HP:0003401
8675	STX16	Chest pain	HP:0100749
8675	STX16	Depressivity	HP:0000716
8675	STX16	Hypocalcemic tetany	HP:0003472
8675	STX16	Laryngeal dystonia	HP:0012049
8675	STX16	Pseudohypoparathyroidism	HP:0000852
8675	STX16	Hypocalcemia	HP:0002901
8675	STX16	Short neck	HP:0000470
8675	STX16	Hypocalcemic seizures	HP:0002199
8675	STX16	Hypoplasia of dental enamel	HP:0006297
8675	STX16	Hyperphosphatemia	HP:0002905
8675	STX16	Diaphyseal sclerosis	HP:0003034
8675	STX16	Myoclonic spasms	HP:0003739
8675	STX16	Elevated circulating parathyroid hormone level	HP:0003165
8675	STX16	Depressed nasal bridge	HP:0005280
8675	STX16	Irritability	HP:0000737
8675	STX16	Sporadic	HP:0003745
8675	STX16	Short stature	HP:0004322
8675	STX16	Pituitary resistance to thyroid hormone	HP:0008227
8675	STX16	Anxiety	HP:0000739
8675	STX16	Full cheeks	HP:0000293
8675	STX16	Obesity	HP:0001513
8675	STX16	Delayed eruption of teeth	HP:0000684
8675	STX16	Dyspnea	HP:0002094
8675	STX16	Hyporeflexia	HP:0001265
8675	STX16	Dyskinesia	HP:0100660
8675	STX16	Round face	HP:0000311
8675	STX16	Growth hormone deficiency	HP:0000824
8675	STX16	Prolonged QT interval	HP:0001657
8675	STX16	Conjunctivitis	HP:0000509
8675	STX16	Nystagmus	HP:0000639
8676	STX11	Hepatomegaly	HP:0002240
8676	STX11	Seizures	HP:0001250
8676	STX11	Autosomal recessive inheritance	HP:0000007
8676	STX11	Generalized hypotonia	HP:0001290
8676	STX11	Hypertriglyceridemia	HP:0002155
8676	STX11	Global developmental delay	HP:0001263
8676	STX11	Anemia	HP:0001903
8676	STX11	Splenomegaly	HP:0001744
8676	STX11	Thrombocytopenia	HP:0001873
8676	STX11	Increased serum ferritin	HP:0003281
8676	STX11	Neutropenia	HP:0001875
8676	STX11	Fever	HP:0001945
8676	STX11	Hypofibrinogenemia	HP:0011900
8676	STX11	Hemophagocytosis	HP:0012156
486	FXYD2	Seizures	HP:0001250
486	FXYD2	Renal insufficiency	HP:0000083
486	FXYD2	Hypokalemia	HP:0002900
486	FXYD2	Hypomagnesemia	HP:0002917
486	FXYD2	Chondrocalcinosis	HP:0000934
486	FXYD2	Autosomal dominant inheritance	HP:0000006
486	FXYD2	Hypocalciuria	HP:0003127
486	FXYD2	Generalized muscle weakness	HP:0003324
486	FXYD2	Renal magnesium wasting	HP:0005567
487	ATP2A1	Muscle spasm	HP:0003394
487	ATP2A1	Autosomal recessive inheritance	HP:0000007
488	ATP2A2	Seizures	HP:0001250
488	ATP2A2	Hyperkeratosis	HP:0000962
488	ATP2A2	Epidermal acanthosis	HP:0025092
488	ATP2A2	Skin vesicle	HP:0200037
488	ATP2A2	Bipolar affective disorder	HP:0007302
488	ATP2A2	Autosomal dominant inheritance	HP:0000006
488	ATP2A2	Intellectual disability, mild	HP:0001256
488	ATP2A2	Hypermelanotic macule	HP:0001034
488	ATP2A2	Ridged nail	HP:0001807
488	ATP2A2	Schizophrenia	HP:0100753
488	ATP2A2	Palmar pits	HP:0010610
488	ATP2A2	Acrokeratosis	HP:0200016
488	ATP2A2	Plantar pits	HP:0010612
488	ATP2A2	Palmoplantar keratoderma	HP:0000982
488	ATP2A2	Enlargement of parotid gland	HP:0011801
488	ATP2A2	Subungual hyperkeratotic fragments	HP:0008410
488	ATP2A2	Abnormal hair morphology	HP:0001595
488	ATP2A2	Anal mucosal leukoplakia	HP:0005212
488	ATP2A2	Pruritus	HP:0000989
442862	PRY2	Y-linked inheritance	HP:0001450
442862	PRY2	Azoospermia	HP:0000027
492	ATP2B3	Saccadic smooth pursuit	HP:0001152
492	ATP2B3	Slow saccadic eye movements	HP:0000514
492	ATP2B3	Clumsiness	HP:0002312
492	ATP2B3	X-linked inheritance	HP:0001417
492	ATP2B3	X-linked recessive inheritance	HP:0001419
492	ATP2B3	Unsteady gait	HP:0002317
492	ATP2B3	Truncal ataxia	HP:0002078
492	ATP2B3	Intention tremor	HP:0002080
492	ATP2B3	Spastic dysarthria	HP:0002464
492	ATP2B3	Nonprogressive	HP:0003680
492	ATP2B3	Ataxia	HP:0001251
492	ATP2B3	Juvenile onset	HP:0003621
492	ATP2B3	Strabismus	HP:0000486
492	ATP2B3	Nonprogressive cerebellar ataxia	HP:0002470
492	ATP2B3	Generalized neonatal hypotonia	HP:0008935
492	ATP2B3	Neonatal hypotonia	HP:0001319
492	ATP2B3	Cerebellar vermis hypoplasia	HP:0001320
492	ATP2B3	Cerebellar hypoplasia	HP:0001321
492	ATP2B3	Dysarthria	HP:0001260
492	ATP2B3	Difficulty standing	HP:0003698
492	ATP2B3	Motor delay	HP:0001270
492	ATP2B3	Frequent falls	HP:0002359
492	ATP2B3	Cerebellar atrophy	HP:0001272
492	ATP2B3	Congenital onset	HP:0003577
492	ATP2B3	Nystagmus	HP:0000639
498	ATP5F1A	Irritability	HP:0000737
498	ATP5F1A	Seizures	HP:0001250
498	ATP5F1A	Congestive heart failure	HP:0001635
498	ATP5F1A	Failure to thrive	HP:0001508
498	ATP5F1A	Autosomal recessive inheritance	HP:0000007
498	ATP5F1A	Intrauterine growth retardation	HP:0001511
498	ATP5F1A	Pulmonary hypoplasia	HP:0002089
498	ATP5F1A	Cerebellar hypoplasia	HP:0001321
498	ATP5F1A	Generalized hypotonia	HP:0001290
498	ATP5F1A	Pulmonary arterial hypertension	HP:0002092
498	ATP5F1A	Encephalopathy	HP:0001298
498	ATP5F1A	Hyperalaninemia	HP:0003348
498	ATP5F1A	High-pitched cry	HP:0025430
498	ATP5F1A	Apnea	HP:0002104
498	ATP5F1A	Congenital onset	HP:0003577
498	ATP5F1A	Microcephaly	HP:0000252
498	ATP5F1A	Nystagmus	HP:0000639
501	ALDH7A1	Hepatomegaly	HP:0002240
501	ALDH7A1	Intellectual disability	HP:0001249
501	ALDH7A1	Muscular hypotonia	HP:0001252
501	ALDH7A1	Strabismus	HP:0000486
501	ALDH7A1	Ventriculomegaly	HP:0002119
501	ALDH7A1	Autosomal recessive inheritance	HP:0000007
501	ALDH7A1	Cerebral cortical atrophy	HP:0002120
501	ALDH7A1	Generalized hypotonia	HP:0001290
501	ALDH7A1	Generalized myoclonic seizures	HP:0002123
501	ALDH7A1	Delayed speech and language development	HP:0000750
501	ALDH7A1	Global developmental delay	HP:0001263
501	ALDH7A1	EEG abnormality	HP:0002353
501	ALDH7A1	Respiratory distress	HP:0002098
501	ALDH7A1	Abnormality of metabolism/homeostasis	HP:0001939
501	ALDH7A1	Neonatal respiratory distress	HP:0002643
501	ALDH7A1	Status epilepticus	HP:0002133
501	ALDH7A1	Prenatal movement abnormality	HP:0001557
501	ALDH7A1	Generalized tonic-clonic seizures	HP:0002069
501	ALDH7A1	Neurological speech impairment	HP:0002167
501	ALDH7A1	Abnormality of movement	HP:0100022
501	ALDH7A1	Fetal distress	HP:0025116
8694	DGAT1	Hypoalbuminemia	HP:0003073
8694	DGAT1	Villous atrophy	HP:0011473
8694	DGAT1	Protein-losing enteropathy	HP:0002243
8694	DGAT1	Hypercholesterolemia	HP:0003124
8694	DGAT1	Hyperlipidemia	HP:0003077
8694	DGAT1	Autosomal recessive inheritance	HP:0000007
8694	DGAT1	Vomiting	HP:0002013
8694	DGAT1	Diarrhea	HP:0002014
8701	DNAH11	Situs inversus totalis	HP:0001696
8701	DNAH11	Autosomal recessive inheritance	HP:0000007
8701	DNAH11	Ciliary dyskinesia	HP:0012265
8701	DNAH11	Recurrent respiratory infections	HP:0002205
8701	DNAH11	Bronchiectasis	HP:0002110
221692	PHACTR1	Delayed myelination	HP:0012448
221692	PHACTR1	Seizures	HP:0001250
221692	PHACTR1	Epileptic encephalopathy	HP:0200134
221692	PHACTR1	Spastic tetraparesis	HP:0001285
221692	PHACTR1	Ventriculomegaly	HP:0002119
221692	PHACTR1	Cerebral cortical atrophy	HP:0002120
221692	PHACTR1	Developmental regression	HP:0002376
221692	PHACTR1	Global developmental delay	HP:0001263
221692	PHACTR1	Brain imaging abnormality	HP:0410263
221692	PHACTR1	Abnormality of skin morphology	HP:0011121
221692	PHACTR1	Variable expressivity	HP:0003828
221692	PHACTR1	Poor head control	HP:0002421
221692	PHACTR1	Infantile spasms	HP:0012469
221692	PHACTR1	Myoclonus	HP:0001336
221692	PHACTR1	Hypsarrhythmia	HP:0002521
221692	PHACTR1	Hypertelorism	HP:0000316
513	ATP5F1D	Rhabdomyolysis	HP:0003201
513	ATP5F1D	Seizures	HP:0001250
513	ATP5F1D	Hyperammonemia	HP:0001987
513	ATP5F1D	Elevated serum creatine kinase	HP:0003236
513	ATP5F1D	Lethargy	HP:0001254
513	ATP5F1D	Ketoacidosis	HP:0001993
513	ATP5F1D	Muscle weakness	HP:0001324
513	ATP5F1D	Delayed speech and language development	HP:0000750
513	ATP5F1D	3-Methylglutaconic aciduria	HP:0003535
513	ATP5F1D	Global developmental delay	HP:0001263
513	ATP5F1D	Encephalopathy	HP:0001298
513	ATP5F1D	Hypoglycemia	HP:0001943
513	ATP5F1D	Lactic acidosis	HP:0003128
513	ATP5F1D	Exercise intolerance	HP:0003546
513	ATP5F1D	Gait imbalance	HP:0002141
90624	LYRM7	Exotropia	HP:0000577
90624	LYRM7	Brisk reflexes	HP:0001348
90624	LYRM7	Spastic tetraparesis	HP:0001285
90624	LYRM7	Autosomal recessive inheritance	HP:0000007
90624	LYRM7	Developmental regression	HP:0002376
90624	LYRM7	Gait disturbance	HP:0001288
90624	LYRM7	Generalized hypotonia	HP:0001290
90624	LYRM7	Cerebral atrophy	HP:0002059
90624	LYRM7	Encephalopathy	HP:0001298
90624	LYRM7	Abnormality of the periventricular white matter	HP:0002518
90624	LYRM7	Progressive	HP:0003676
90624	LYRM7	Rapidly progressive	HP:0003678
90624	LYRM7	Optic disc pallor	HP:0000543
90624	LYRM7	Hypoplasia of the corpus callosum	HP:0002079
90624	LYRM7	External ophthalmoplegia	HP:0000544
90624	LYRM7	Intellectual disability	HP:0001249
90624	LYRM7	Ataxia	HP:0001251
90624	LYRM7	Failure to thrive	HP:0001508
90624	LYRM7	Lethargy	HP:0001254
90624	LYRM7	Increased serum lactate	HP:0002151
90624	LYRM7	Muscle weakness	HP:0001324
90624	LYRM7	Dysarthria	HP:0001260
90624	LYRM7	Global developmental delay	HP:0001263
90624	LYRM7	Anemia	HP:0001903
90624	LYRM7	Lactic acidosis	HP:0003128
90624	LYRM7	Respiratory failure	HP:0002878
90624	LYRM7	Nystagmus	HP:0000639
514	ATP5F1E	Intellectual disability	HP:0001249
514	ATP5F1E	Decreased activity of mitochondrial ATP synthase complex	HP:0011925
514	ATP5F1E	Peripheral neuropathy	HP:0009830
514	ATP5F1E	Autosomal recessive inheritance	HP:0000007
514	ATP5F1E	Hypertrophic cardiomyopathy	HP:0001639
514	ATP5F1E	Lactic acidosis	HP:0003128
514	ATP5F1E	3-Methylglutaconic aciduria	HP:0003535
8710	SERPINB7	Palmoplantar hyperhidrosis	HP:0007410
8710	SERPINB7	Epidermal acanthosis	HP:0025092
8710	SERPINB7	Palmoplantar keratoderma	HP:0000982
8710	SERPINB7	Autosomal recessive inheritance	HP:0000007
8710	SERPINB7	Maceration	HP:0032007
8710	SERPINB7	Orthokeratotic hyperkeratosis	HP:0025080
8710	SERPINB7	Hypergranulosis	HP:0025114
8710	SERPINB7	Hyperhidrosis	HP:0000975
197131	UBR1	Septate vagina	HP:0001153
197131	UBR1	Hypoproteinemia	HP:0003075
197131	UBR1	Autosomal recessive inheritance	HP:0000007
197131	UBR1	Abnormal cardiac septum morphology	HP:0001671
197131	UBR1	Anteriorly placed anus	HP:0001545
197131	UBR1	Generalized hypotonia	HP:0001290
197131	UBR1	Urethrovaginal fistula	HP:0008716
197131	UBR1	Abnormal vagina morphology	HP:0000142
197131	UBR1	Rectovaginal fistula	HP:0000143
197131	UBR1	Anasarca	HP:0012050
197131	UBR1	Sensorineural hearing impairment	HP:0000407
197131	UBR1	Cryptorchidism	HP:0000028
197131	UBR1	Situs inversus totalis	HP:0001696
197131	UBR1	Hypoplasia of penis	HP:0008736
197131	UBR1	Sparse scalp hair	HP:0002209
197131	UBR1	Increased VLDL cholesterol concentration	HP:0003362
197131	UBR1	Oligodontia	HP:0000677
197131	UBR1	Abnormality of the nares	HP:0005288
197131	UBR1	Delayed eruption of teeth	HP:0000684
197131	UBR1	Underdeveloped nasal alae	HP:0000430
197131	UBR1	Hypospadias	HP:0000047
197131	UBR1	Diabetes mellitus	HP:0000819
197131	UBR1	Microdontia	HP:0000691
197131	UBR1	Hypothyroidism	HP:0000821
197131	UBR1	Micropenis	HP:0000054
197131	UBR1	Dilatation	HP:0002617
197131	UBR1	Single transverse palmar crease	HP:0000954
197131	UBR1	Frontal upsweep of hair	HP:0002236
197131	UBR1	Convex nasal ridge	HP:0000444
197131	UBR1	Alopecia	HP:0001596
197131	UBR1	Cafe-au-lait spot	HP:0000957
197131	UBR1	Abnormality of the nail	HP:0001597
197131	UBR1	Delayed skeletal maturation	HP:0002750
197131	UBR1	Hypoplasia of the primary teeth	HP:0006334
197131	UBR1	Absent lacrimal punctum	HP:0001092
197131	UBR1	Edema	HP:0000969
197131	UBR1	Exocrine pancreatic insufficiency	HP:0001738
197131	UBR1	Agenesis of permanent teeth	HP:0006349
197131	UBR1	Colonic diverticula	HP:0002253
197131	UBR1	Calvarial skull defect	HP:0001362
197131	UBR1	Hypocalcemia	HP:0002901
197131	UBR1	Aplasia cutis congenita of scalp	HP:0007385
197131	UBR1	Clitoral hypertrophy	HP:0008665
197131	UBR1	Ventricular septal defect	HP:0001629
197131	UBR1	Atrial septal defect	HP:0001631
197131	UBR1	Abnormal hair pattern	HP:0010720
197131	UBR1	Intellectual disability	HP:0001249
197131	UBR1	Short stature	HP:0004322
197131	UBR1	Failure to thrive	HP:0001508
197131	UBR1	Muscular hypotonia	HP:0001252
197131	UBR1	Strabismus	HP:0000486
197131	UBR1	Intrauterine growth retardation	HP:0001511
197131	UBR1	Anal atresia	HP:0002023
197131	UBR1	Malabsorption	HP:0002024
197131	UBR1	Death in childhood	HP:0003819
197131	UBR1	Dilated cardiomyopathy	HP:0001644
197131	UBR1	Joint laxity	HP:0001388
197131	UBR1	Small for gestational age	HP:0001518
197131	UBR1	Fair hair	HP:0002286
197131	UBR1	Anemia	HP:0001903
197131	UBR1	Clinodactyly of the 5th finger	HP:0004209
197131	UBR1	Death in infancy	HP:0001522
197131	UBR1	Dextrocardia	HP:0001651
197131	UBR1	Cholestasis	HP:0001396
197131	UBR1	Hepatic failure	HP:0001399
197131	UBR1	Lacrimation abnormality	HP:0000632
197131	UBR1	Midline skin dimples over anterior/posterior fontanelles	HP:0005498
197131	UBR1	Microcephaly	HP:0000252
197131	UBR1	Short nose	HP:0003196
197131	UBR1	Hypoplastic nipples	HP:0002557
197131	UBR1	Hydronephrosis	HP:0000126
523	ATP6V1A	Spastic tetraparesis	HP:0001285
523	ATP6V1A	Cataract	HP:0000518
523	ATP6V1A	Autosomal recessive inheritance	HP:0000007
523	ATP6V1A	Generalized hypotonia	HP:0001290
523	ATP6V1A	Cerebral atrophy	HP:0002059
523	ATP6V1A	Thick hair	HP:0100874
523	ATP6V1A	Unsteady gait	HP:0002317
523	ATP6V1A	Rigidity	HP:0002063
523	ATP6V1A	Malar flattening	HP:0000272
523	ATP6V1A	Encephalopathy	HP:0001298
523	ATP6V1A	Decreased fetal movement	HP:0001558
523	ATP6V1A	Retrognathia	HP:0000278
523	ATP6V1A	Pachygyria	HP:0001302
523	ATP6V1A	Inguinal hernia	HP:0000023
523	ATP6V1A	Dandy-Walker malformation	HP:0001305
523	ATP6V1A	Hypermetropia	HP:0000540
523	ATP6V1A	Hypoplasia of the corpus callosum	HP:0002079
523	ATP6V1A	Prominent veins on trunk	HP:0007457
523	ATP6V1A	Retinal degeneration	HP:0000546
523	ATP6V1A	Cerebellar hypoplasia	HP:0001321
523	ATP6V1A	Mask-like facies	HP:0000298
523	ATP6V1A	Difficulty walking	HP:0002355
523	ATP6V1A	Dyskinesia	HP:0100660
523	ATP6V1A	Micropenis	HP:0000054
523	ATP6V1A	Myoclonus	HP:0001336
523	ATP6V1A	Tremor	HP:0001337
523	ATP6V1A	Psychomotor deterioration	HP:0002361
523	ATP6V1A	Hypertelorism	HP:0000316
523	ATP6V1A	Smooth philtrum	HP:0000319
523	ATP6V1A	Absent speech	HP:0001344
523	ATP6V1A	Hyperreflexia	HP:0001347
523	ATP6V1A	Blepharophimosis	HP:0000581
523	ATP6V1A	Triangular face	HP:0000325
523	ATP6V1A	Developmental regression	HP:0002376
523	ATP6V1A	Polymicrogyria	HP:0002126
523	ATP6V1A	Fragmented elastic fibers in the dermis	HP:0025167
523	ATP6V1A	Status epilepticus	HP:0002133
523	ATP6V1A	Long philtrum	HP:0000343
523	ATP6V1A	Abnormal isoelectric focusing of serum transferrin	HP:0003160
523	ATP6V1A	High forehead	HP:0000348
523	ATP6V1A	EEG with multifocal slow activity	HP:0010844
523	ATP6V1A	Congenital hip dislocation	HP:0001374
523	ATP6V1A	Atrial septal defect	HP:0001631
523	ATP6V1A	Congestive heart failure	HP:0001635
523	ATP6V1A	Iris coloboma	HP:0000612
523	ATP6V1A	CNS hypomyelination	HP:0003429
523	ATP6V1A	Redundant neck skin	HP:0005989
523	ATP6V1A	Impulsivity	HP:0100710
523	ATP6V1A	Hypertrophic cardiomyopathy	HP:0001639
523	ATP6V1A	Attention deficit hyperactivity disorder	HP:0007018
523	ATP6V1A	Entropion	HP:0000621
523	ATP6V1A	Low-set ears	HP:0000369
523	ATP6V1A	Abnormal apolipoprotein level	HP:0025201
523	ATP6V1A	Poor head control	HP:0002421
523	ATP6V1A	Gliosis	HP:0002171
523	ATP6V1A	Short nose	HP:0003196
523	ATP6V1A	Nystagmus	HP:0000639
523	ATP6V1A	Decreased muscle mass	HP:0003199
523	ATP6V1A	Abnormal subcutaneous fat tissue distribution	HP:0007552
523	ATP6V1A	Sparse hair	HP:0008070
523	ATP6V1A	Optic atrophy	HP:0000648
523	ATP6V1A	Intellectual disability, profound	HP:0002187
523	ATP6V1A	Macrotia	HP:0000400
523	ATP6V1A	Prominent nasolabial fold	HP:0005272
523	ATP6V1A	Protruding ear	HP:0000411
523	ATP6V1A	Hypodontia	HP:0000668
523	ATP6V1A	Subretinal pigment epithelium hemorrhage	HP:0025244
523	ATP6V1A	Bulbous nose	HP:0000414
523	ATP6V1A	Carious teeth	HP:0000670
523	ATP6V1A	Abnormal myelination	HP:0012447
523	ATP6V1A	Coarse hair	HP:0002208
523	ATP6V1A	Poor speech	HP:0002465
523	ATP6V1A	Lipodystrophy	HP:0009125
523	ATP6V1A	Wide nasal bridge	HP:0000431
523	ATP6V1A	Feeding difficulties	HP:0011968
523	ATP6V1A	Delayed ability to walk	HP:0031936
523	ATP6V1A	Right bundle branch block	HP:0011712
523	ATP6V1A	Postnatal growth retardation	HP:0008897
523	ATP6V1A	Delayed closure of the anterior fontanelle	HP:0001476
523	ATP6V1A	Epileptic encephalopathy	HP:0200134
523	ATP6V1A	Broad nasal tip	HP:0000455
523	ATP6V1A	Generalized joint laxity	HP:0002761
523	ATP6V1A	Limb hypertonia	HP:0002509
523	ATP6V1A	Autism	HP:0000717
523	ATP6V1A	Dementia	HP:0000726
523	ATP6V1A	Hypsarrhythmia	HP:0002521
523	ATP6V1A	High palate	HP:0000218
523	ATP6V1A	Excessive wrinkled skin	HP:0007392
523	ATP6V1A	Intellectual disability	HP:0001249
523	ATP6V1A	Short stature	HP:0004322
523	ATP6V1A	Seizures	HP:0001250
523	ATP6V1A	Ataxia	HP:0001251
523	ATP6V1A	Gastroesophageal reflux	HP:0002020
523	ATP6V1A	Failure to thrive	HP:0001508
523	ATP6V1A	Strabismus	HP:0000486
523	ATP6V1A	Intrauterine growth retardation	HP:0001511
523	ATP6V1A	Spasticity	HP:0001257
523	ATP6V1A	Thick cerebral cortex	HP:0006891
523	ATP6V1A	Inability to walk	HP:0002540
523	ATP6V1A	Abnormality of the intrinsic pathway	HP:0010989
523	ATP6V1A	Downslanted palpebral fissures	HP:0000494
523	ATP6V1A	Delayed speech and language development	HP:0000750
523	ATP6V1A	Global developmental delay	HP:0001263
523	ATP6V1A	Disproportionate tall stature	HP:0001519
523	ATP6V1A	Hyporeflexia	HP:0001265
523	ATP6V1A	Infantile muscular hypotonia	HP:0008947
523	ATP6V1A	Mental deterioration	HP:0001268
523	ATP6V1A	Variable expressivity	HP:0003828
523	ATP6V1A	Motor delay	HP:0001270
523	ATP6V1A	Abnormality of vision	HP:0000504
523	ATP6V1A	Cerebellar atrophy	HP:0001272
523	ATP6V1A	Abnormal corpus callosum morphology	HP:0001273
523	ATP6V1A	High myopia	HP:0011003
523	ATP6V1A	Microcephaly	HP:0000252
523	ATP6V1A	Ptosis	HP:0000508
523	ATP6V1A	Progressive microcephaly	HP:0000253
197135	PATL2	Infertility	HP:0000789
525	ATP6V1B1	Nephrolithiasis	HP:0000787
525	ATP6V1B1	Sensorineural hearing impairment	HP:0000407
525	ATP6V1B1	Autosomal recessive inheritance	HP:0000007
525	ATP6V1B1	Renal tubular acidosis	HP:0001947
526	ATP6V1B2	Small nail	HP:0001792
526	ATP6V1B2	Brachydactyly	HP:0001156
526	ATP6V1B2	Autosomal dominant inheritance	HP:0000006
526	ATP6V1B2	Anonychia	HP:0001798
526	ATP6V1B2	Cataract	HP:0000518
526	ATP6V1B2	Hypoplastic toenails	HP:0001800
526	ATP6V1B2	Absent toenail	HP:0001802
526	ATP6V1B2	Absent thumbnail	HP:0012554
526	ATP6V1B2	Generalized hypotonia	HP:0001290
526	ATP6V1B2	Dolichocephaly	HP:0000268
526	ATP6V1B2	Hypoplastic fingernail	HP:0001804
526	ATP6V1B2	Anterior open-bite malocclusion	HP:0009102
526	ATP6V1B2	Long eyelashes	HP:0000527
526	ATP6V1B2	Generalized hyperpigmentation	HP:0007440
526	ATP6V1B2	Sensorineural hearing impairment	HP:0000407
526	ATP6V1B2	Synophrys	HP:0000664
526	ATP6V1B2	Absent fingernail	HP:0001817
526	ATP6V1B2	Wide mouth	HP:0000154
526	ATP6V1B2	Hypodontia	HP:0000668
526	ATP6V1B2	Macroglossia	HP:0000158
526	ATP6V1B2	Bulbous nose	HP:0000414
526	ATP6V1B2	Hallux valgus	HP:0001822
526	ATP6V1B2	Poor speech	HP:0002465
526	ATP6V1B2	Aplasia cutis congenita	HP:0001057
526	ATP6V1B2	Oligodontia	HP:0000677
526	ATP6V1B2	Thickened ears	HP:0009894
526	ATP6V1B2	Gingival fibromatosis	HP:0000169
526	ATP6V1B2	Absent fifth fingernail	HP:0200104
526	ATP6V1B2	Abnormal external genitalia	HP:0000811
526	ATP6V1B2	Facial hypertrichosis	HP:0002219
526	ATP6V1B2	Underdeveloped nasal alae	HP:0000430
526	ATP6V1B2	Triphalangeal thumb	HP:0001199
526	ATP6V1B2	Wide nasal bridge	HP:0000431
526	ATP6V1B2	Deep palmar crease	HP:0006191
526	ATP6V1B2	Cleft palate	HP:0000175
526	ATP6V1B2	Severe sensorineural hearing impairment	HP:0008625
526	ATP6V1B2	Short thumb	HP:0009778
526	ATP6V1B2	Thick vermilion border	HP:0012471
526	ATP6V1B2	Selective tooth agenesis	HP:0001592
526	ATP6V1B2	Conical tooth	HP:0000698
526	ATP6V1B2	Hypertelorism	HP:0000316
526	ATP6V1B2	Wide nose	HP:0000445
526	ATP6V1B2	Increased number of teeth	HP:0011069
526	ATP6V1B2	Thick eyebrow	HP:0000574
526	ATP6V1B2	Hepatomegaly	HP:0002240
526	ATP6V1B2	Bifid uvula	HP:0000193
526	ATP6V1B2	Bifid nasal tip	HP:0000456
526	ATP6V1B2	Prominent nasal septum	HP:0005322
526	ATP6V1B2	Generalized hypertrichosis	HP:0004554
526	ATP6V1B2	Deep plantar creases	HP:0001869
526	ATP6V1B2	Small, conical teeth	HP:0200141
526	ATP6V1B2	Abnormal facial shape	HP:0001999
526	ATP6V1B2	Splenomegaly	HP:0001744
526	ATP6V1B2	Soft skin	HP:0000977
526	ATP6V1B2	Deep philtrum	HP:0002002
526	ATP6V1B2	Gingival overgrowth	HP:0000212
526	ATP6V1B2	Nail dystrophy	HP:0008404
526	ATP6V1B2	Short neck	HP:0000470
526	ATP6V1B2	Abnormality of cardiovascular system morphology	HP:0030680
526	ATP6V1B2	Large fleshy ears	HP:0002265
526	ATP6V1B2	High palate	HP:0000218
526	ATP6V1B2	Micrognathia	HP:0000347
526	ATP6V1B2	High forehead	HP:0000348
526	ATP6V1B2	Widow's peak	HP:0000349
526	ATP6V1B2	Intellectual disability	HP:0001249
526	ATP6V1B2	Pes cavus	HP:0001761
526	ATP6V1B2	Seizures	HP:0001250
526	ATP6V1B2	Short stature	HP:0004322
526	ATP6V1B2	Pes planus	HP:0001763
526	ATP6V1B2	Joint hypermobility	HP:0001382
526	ATP6V1B2	Growth delay	HP:0001510
526	ATP6V1B2	Hidrotic ectodermal dysplasia	HP:0007529
526	ATP6V1B2	Toe syndactyly	HP:0001770
526	ATP6V1B2	Downslanted palpebral fissures	HP:0000494
526	ATP6V1B2	Infantile muscular hypotonia	HP:0008947
526	ATP6V1B2	Overtubulated long bones	HP:0006391
526	ATP6V1B2	Kyphosis	HP:0002808
526	ATP6V1B2	Congenital onset	HP:0003577
526	ATP6V1B2	Telecanthus	HP:0000506
529	ATP6V1E1	Abnormal subcutaneous fat tissue distribution	HP:0007552
529	ATP6V1E1	Sparse hair	HP:0008070
529	ATP6V1E1	Autosomal recessive inheritance	HP:0000007
529	ATP6V1E1	Broad columella	HP:0010761
529	ATP6V1E1	Generalized hypotonia	HP:0001290
529	ATP6V1E1	Intellectual disability, profound	HP:0002187
529	ATP6V1E1	Thick hair	HP:0100874
529	ATP6V1E1	Malar flattening	HP:0000272
529	ATP6V1E1	Pachygyria	HP:0001302
529	ATP6V1E1	Inguinal hernia	HP:0000023
529	ATP6V1E1	Prominent nasolabial fold	HP:0005272
529	ATP6V1E1	Dandy-Walker malformation	HP:0001305
529	ATP6V1E1	Subretinal pigment epithelium hemorrhage	HP:0025244
529	ATP6V1E1	Carious teeth	HP:0000670
529	ATP6V1E1	Coarse hair	HP:0002208
529	ATP6V1E1	Prominent veins on trunk	HP:0007457
529	ATP6V1E1	Poor speech	HP:0002465
529	ATP6V1E1	Hand clenching	HP:0001188
529	ATP6V1E1	Lipodystrophy	HP:0009125
529	ATP6V1E1	Dental crowding	HP:0000678
529	ATP6V1E1	Cerebellar hypoplasia	HP:0001321
529	ATP6V1E1	Reduced subcutaneous adipose tissue	HP:0003758
529	ATP6V1E1	Pointed chin	HP:0000307
529	ATP6V1E1	Psychomotor deterioration	HP:0002361
529	ATP6V1E1	Hypertelorism	HP:0000316
529	ATP6V1E1	Tricuspid regurgitation	HP:0005180
529	ATP6V1E1	Smooth philtrum	HP:0000319
529	ATP6V1E1	Kyphoscoliosis	HP:0002751
529	ATP6V1E1	Feeding difficulties	HP:0011968
529	ATP6V1E1	Right bundle branch block	HP:0011712
529	ATP6V1E1	Postnatal growth retardation	HP:0008897
529	ATP6V1E1	Laryngomalacia	HP:0001601
529	ATP6V1E1	Biventricular hypertrophy	HP:0200128
529	ATP6V1E1	Delayed closure of the anterior fontanelle	HP:0001476
529	ATP6V1E1	Triangular face	HP:0000325
529	ATP6V1E1	Broad nasal tip	HP:0000455
529	ATP6V1E1	Generalized joint laxity	HP:0002761
529	ATP6V1E1	Narrow naris	HP:0009933
529	ATP6V1E1	Polymicrogyria	HP:0002126
529	ATP6V1E1	Fragmented elastic fibers in the dermis	HP:0025167
529	ATP6V1E1	Dementia	HP:0000726
529	ATP6V1E1	Long philtrum	HP:0000343
529	ATP6V1E1	Abnormal isoelectric focusing of serum transferrin	HP:0003160
529	ATP6V1E1	High palate	HP:0000218
529	ATP6V1E1	Congenital hip dislocation	HP:0001374
529	ATP6V1E1	Atrial septal defect	HP:0001631
529	ATP6V1E1	Excessive wrinkled skin	HP:0007392
529	ATP6V1E1	Seizures	HP:0001250
529	ATP6V1E1	Short stature	HP:0004322
529	ATP6V1E1	Talipes equinovarus	HP:0001762
529	ATP6V1E1	Mitral valve prolapse	HP:0001634
529	ATP6V1E1	Pes planus	HP:0001763
529	ATP6V1E1	Failure to thrive	HP:0001508
529	ATP6V1E1	Redundant neck skin	HP:0005989
529	ATP6V1E1	Decreased body weight	HP:0004325
529	ATP6V1E1	Strabismus	HP:0000486
529	ATP6V1E1	Intrauterine growth retardation	HP:0001511
529	ATP6V1E1	Spasticity	HP:0001257
529	ATP6V1E1	Hip dysplasia	HP:0001385
529	ATP6V1E1	Thick cerebral cortex	HP:0006891
529	ATP6V1E1	Joint laxity	HP:0001388
529	ATP6V1E1	Knee flexion contracture	HP:0006380
529	ATP6V1E1	Abnormality of the intrinsic pathway	HP:0010989
529	ATP6V1E1	Entropion	HP:0000621
529	ATP6V1E1	Downslanted palpebral fissures	HP:0000494
529	ATP6V1E1	Delayed speech and language development	HP:0000750
529	ATP6V1E1	Global developmental delay	HP:0001263
529	ATP6V1E1	Disproportionate tall stature	HP:0001519
529	ATP6V1E1	Abnormal apolipoprotein level	HP:0025201
529	ATP6V1E1	Low-set ears	HP:0000369
529	ATP6V1E1	Bilateral cryptorchidism	HP:0008689
529	ATP6V1E1	Infantile muscular hypotonia	HP:0008947
529	ATP6V1E1	Motor delay	HP:0001270
529	ATP6V1E1	High myopia	HP:0011003
529	ATP6V1E1	Aortic regurgitation	HP:0001659
529	ATP6V1E1	Short nose	HP:0003196
529	ATP6V1E1	Progressive microcephaly	HP:0000253
529	ATP6V1E1	Decreased muscle mass	HP:0003199
529	ATP6V1E1	Nystagmus	HP:0000639
8722	CTSF	Seizures	HP:0001250
8722	CTSF	Hyperreflexia	HP:0001347
8722	CTSF	Ataxia	HP:0001251
8722	CTSF	Autosomal recessive inheritance	HP:0000007
8722	CTSF	Emotional lability	HP:0000712
8722	CTSF	Diffuse cerebral atrophy	HP:0002506
8722	CTSF	Depressivity	HP:0000716
8722	CTSF	Dysarthria	HP:0001260
8722	CTSF	Primitive reflex	HP:0002476
8722	CTSF	Dementia	HP:0000726
8722	CTSF	Abnormality of extrapyramidal motor function	HP:0002071
8722	CTSF	Myoclonus	HP:0001336
8722	CTSF	Cerebellar atrophy	HP:0001272
8722	CTSF	Tremor	HP:0001337
8722	CTSF	Progressive	HP:0003676
8722	CTSF	Adult onset	HP:0003581
8722	CTSF	Babinski sign	HP:0003487
8726	EED	Macrocephaly	HP:0000256
8726	EED	Small nail	HP:0001792
8726	EED	Long ear	HP:0400004
8726	EED	Cataract	HP:0000518
8726	EED	Hypoplastic toenails	HP:0001800
8726	EED	Gait disturbance	HP:0001288
8726	EED	Camptodactyly of finger	HP:0100490
8726	EED	Macrotia	HP:0000400
8726	EED	Deep-set nails	HP:0001814
8726	EED	Retrognathia	HP:0000278
8726	EED	Inguinal hernia	HP:0000023
8726	EED	Thin nail	HP:0001816
8726	EED	Large hands	HP:0001176
8726	EED	Cryptorchidism	HP:0000028
8726	EED	Epicanthus	HP:0000286
8726	EED	Hypoplasia of penis	HP:0008736
8726	EED	Depressed nasal bridge	HP:0005280
8726	EED	Myopia	HP:0000545
8726	EED	Fine hair	HP:0002213
8726	EED	Feeding difficulties in infancy	HP:0008872
8726	EED	Broad thumb	HP:0011304
8726	EED	Long foot	HP:0001833
8726	EED	Osteopenia	HP:0000938
8726	EED	Redundant skin	HP:0001582
8726	EED	Wide nasal bridge	HP:0000431
8726	EED	Abnormality of the metaphysis	HP:0000944
8726	EED	Hypoplastic iliac wing	HP:0002866
8726	EED	Round face	HP:0000311
8726	EED	Joint hyperflexibility	HP:0005692
8726	EED	Hypertelorism	HP:0000316
8726	EED	Abnormally low-pitched voice	HP:0010300
8726	EED	Sandal gap	HP:0001852
8726	EED	Poor coordination	HP:0002370
8726	EED	Long fingers	HP:0100807
8726	EED	Hoarse voice	HP:0001609
8726	EED	Abnormal fingernail morphology	HP:0001231
8726	EED	Broad forehead	HP:0000337
8726	EED	Deep philtrum	HP:0002002
8726	EED	Finger syndactyly	HP:0006101
8726	EED	Long philtrum	HP:0000343
8726	EED	Abnormality of cardiovascular system morphology	HP:0030680
8726	EED	Scoliosis	HP:0002650
8726	EED	Micrognathia	HP:0000347
8726	EED	Pes cavus	HP:0001761
8726	EED	Intellectual disability	HP:0001249
8726	EED	Camptodactyly	HP:0012385
8726	EED	Talipes equinovarus	HP:0001762
8726	EED	Tall stature	HP:0000098
8726	EED	Spasticity	HP:0001257
8726	EED	Broad foot	HP:0001769
8726	EED	Joint stiffness	HP:0001387
8726	EED	Patent ductus arteriosus	HP:0001643
8726	EED	Joint laxity	HP:0001388
8726	EED	Downslanted palpebral fissures	HP:0000494
8726	EED	Delayed speech and language development	HP:0000750
8726	EED	Global developmental delay	HP:0001263
8726	EED	Low-set, posteriorly rotated ears	HP:0000368
8726	EED	Accelerated skeletal maturation	HP:0005616
8726	EED	Low-set ears	HP:0000369
8726	EED	Coxa valga	HP:0002673
8726	EED	Congenital onset	HP:0003577
8726	EED	Ptosis	HP:0000508
537	ATP6AP1	Hepatomegaly	HP:0002240
537	ATP6AP1	Intellectual disability	HP:0001249
537	ATP6AP1	Seizures	HP:0001250
537	ATP6AP1	X-linked recessive inheritance	HP:0001419
537	ATP6AP1	Splenomegaly	HP:0001744
537	ATP6AP1	Cirrhosis	HP:0001394
537	ATP6AP1	Prolonged neonatal jaundice	HP:0006579
537	ATP6AP1	Variable expressivity	HP:0003828
537	ATP6AP1	Hepatic steatosis	HP:0001397
537	ATP6AP1	Sensorineural hearing impairment	HP:0000407
537	ATP6AP1	Decreased antibody level in blood	HP:0004313
537	ATP6AP1	Leukopenia	HP:0001882
537	ATP6AP1	Hypermetropia	HP:0000540
537	ATP6AP1	Elevated hepatic transaminase	HP:0002910
537	ATP6AP1	Recurrent bacterial infections	HP:0002718
538	ATP7A	Pectus carinatum	HP:0000768
538	ATP7A	Umbilical hernia	HP:0001537
538	ATP7A	Aplastic clavicle	HP:0006660
538	ATP7A	Narrow chest	HP:0000774
538	ATP7A	Recurrent urinary tract infections	HP:0000010
538	ATP7A	Thick hair	HP:0100874
538	ATP7A	Hip dislocation	HP:0002827
538	ATP7A	Unsteady gait	HP:0002317
538	ATP7A	Prominent occiput	HP:0000269
538	ATP7A	Delayed cranial suture closure	HP:0000270
538	ATP7A	Bladder diverticulum	HP:0000015
538	ATP7A	Abnormality of the face	HP:0000271
538	ATP7A	Gastroparesis	HP:0002578
538	ATP7A	Narrow face	HP:0000275
538	ATP7A	Long face	HP:0000276
538	ATP7A	Inguinal hernia	HP:0000023
538	ATP7A	Chorea	HP:0002072
538	ATP7A	Esophagitis	HP:0100633
538	ATP7A	Humerus varus	HP:0003874
538	ATP7A	Juvenile onset	HP:0003621
538	ATP7A	Full cheeks	HP:0000293
538	ATP7A	Genu valgum	HP:0002857
538	ATP7A	Mask-like facies	HP:0000298
538	ATP7A	Muscle weakness	HP:0001324
538	ATP7A	Redundant skin	HP:0001582
538	ATP7A	Bladder carcinoma	HP:0002862
538	ATP7A	Thickened skin	HP:0001072
538	ATP7A	Specific learning disability	HP:0001328
538	ATP7A	Abnormality of the sense of smell	HP:0004408
538	ATP7A	Dilatation	HP:0002617
538	ATP7A	Joint hyperflexibility	HP:0005692
538	ATP7A	Keloids	HP:0010562
538	ATP7A	Developmental regression	HP:0002376
538	ATP7A	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
538	ATP7A	Hepatitis	HP:0012115
538	ATP7A	Absent tibia	HP:0009556
538	ATP7A	Wormian bones	HP:0002645
538	ATP7A	Down-sloping shoulders	HP:0200021
538	ATP7A	Bowing of the long bones	HP:0006487
538	ATP7A	Long philtrum	HP:0000343
538	ATP7A	Fatigue	HP:0012378
538	ATP7A	Scoliosis	HP:0002650
538	ATP7A	Micrognathia	HP:0000347
538	ATP7A	High forehead	HP:0000348
538	ATP7A	Slow progression	HP:0003677
538	ATP7A	Limited elbow extension	HP:0001377
538	ATP7A	Abnormality of the pubic bone	HP:0003172
538	ATP7A	Spinal muscular atrophy	HP:0007269
538	ATP7A	Hip dysplasia	HP:0001385
538	ATP7A	Aplasia/hypoplasia of the humerus	HP:0006507
538	ATP7A	Joint laxity	HP:0001388
538	ATP7A	Distal amyotrophy	HP:0003693
538	ATP7A	Avascular necrosis of the capital femoral epiphysis	HP:0005743
538	ATP7A	Ureteral obstruction	HP:0006000
538	ATP7A	Coxa valga	HP:0002673
538	ATP7A	Large iliac wings	HP:0008818
538	ATP7A	EMG: neuropathic changes	HP:0003445
538	ATP7A	Broad ribs	HP:0000885
538	ATP7A	Distal sensory impairment	HP:0002936
538	ATP7A	Intracranial hemorrhage	HP:0002170
538	ATP7A	Persistent open anterior fontanelle	HP:0004474
538	ATP7A	Hydronephrosis	HP:0000126
538	ATP7A	Short clavicles	HP:0000894
538	ATP7A	Brachydactyly	HP:0001156
538	ATP7A	Sparse hair	HP:0008070
538	ATP7A	X-linked recessive inheritance	HP:0001419
538	ATP7A	Synostosis of joints	HP:0100240
538	ATP7A	High, narrow palate	HP:0002705
538	ATP7A	Broad clavicles	HP:0000916
538	ATP7A	Hypoglycemia	HP:0001943
538	ATP7A	Distal muscle weakness	HP:0002460
538	ATP7A	Platyspondyly	HP:0000926
538	ATP7A	Coarse hair	HP:0002208
538	ATP7A	Short humerus	HP:0005792
538	ATP7A	Chondrocalcinosis	HP:0000934
538	ATP7A	Exostoses	HP:0100777
538	ATP7A	Feeding difficulties in infancy	HP:0008872
538	ATP7A	Osteopenia	HP:0000938
538	ATP7A	Osteoporosis	HP:0000939
538	ATP7A	Venous insufficiency	HP:0005293
538	ATP7A	Abnormal palate morphology	HP:0000174
538	ATP7A	Abnormality of fibula morphology	HP:0002991
538	ATP7A	Tarsal synostosis	HP:0008368
538	ATP7A	Abnormality of the metaphysis	HP:0000944
538	ATP7A	Woolly hair	HP:0002224
538	ATP7A	Prolonged neonatal jaundice	HP:0006579
538	ATP7A	Carotid artery tortuosity	HP:0005302
538	ATP7A	Short palm	HP:0004279
538	ATP7A	Jaundice	HP:0000952
538	ATP7A	Femoral hernia	HP:0100541
538	ATP7A	Rickets	HP:0002748
538	ATP7A	Convex nasal ridge	HP:0000444
538	ATP7A	Osteomalacia	HP:0002749
538	ATP7A	Dry skin	HP:0000958
538	ATP7A	Metaphyseal spurs	HP:0005054
538	ATP7A	Gastrointestinal hemorrhage	HP:0002239
538	ATP7A	Arterial stenosis	HP:0100545
538	ATP7A	Osteomyelitis	HP:0002754
538	ATP7A	Behavioral abnormality	HP:0000708
538	ATP7A	Recurrent fractures	HP:0002757
538	ATP7A	Sepsis	HP:0100806
538	ATP7A	Metaphyseal widening	HP:0003016
538	ATP7A	Abnormality of the wrist	HP:0003019
538	ATP7A	Pelvic bone exostoses	HP:0003276
538	ATP7A	Cutis laxa	HP:0000973
538	ATP7A	Hyperextensible skin	HP:0000974
538	ATP7A	Soft skin	HP:0000977
538	ATP7A	Cerebral calcification	HP:0002514
538	ATP7A	Bruising susceptibility	HP:0000978
538	ATP7A	Long neck	HP:0000472
538	ATP7A	Capitate-hamate fusion	HP:0001241
538	ATP7A	High palate	HP:0000218
538	ATP7A	Atypical scarring of skin	HP:0000987
538	ATP7A	Hypopigmentation of hair	HP:0005599
538	ATP7A	Dysphagia	HP:0002015
538	ATP7A	Abnormal carotid artery morphology	HP:0005344
538	ATP7A	Pes cavus	HP:0001761
538	ATP7A	Intellectual disability	HP:0001249
538	ATP7A	Nausea and vomiting	HP:0002017
538	ATP7A	Seizures	HP:0001250
538	ATP7A	Short stature	HP:0004322
538	ATP7A	Pes planus	HP:0001763
538	ATP7A	Muscular hypotonia	HP:0001252
538	ATP7A	Gastroesophageal reflux	HP:0002020
538	ATP7A	Intrauterine growth retardation	HP:0001511
538	ATP7A	Malabsorption	HP:0002024
538	ATP7A	Spasticity	HP:0001257
538	ATP7A	Death in childhood	HP:0003819
538	ATP7A	Chronic diarrhea	HP:0002028
538	ATP7A	Osteolysis	HP:0002797
538	ATP7A	Downslanted palpebral fissures	HP:0000494
538	ATP7A	Large fontanelles	HP:0000239
538	ATP7A	Global developmental delay	HP:0001263
538	ATP7A	Hyporeflexia	HP:0001265
538	ATP7A	Poor suck	HP:0002033
538	ATP7A	Hypopigmentation of the skin	HP:0001010
538	ATP7A	Hiatus hernia	HP:0002036
538	ATP7A	Abnormal peripheral nervous system morphology	HP:0000759
538	ATP7A	Kyphosis	HP:0002808
538	ATP7A	Brachycephaly	HP:0000248
538	ATP7A	Limited knee extension	HP:0003066
538	ATP7A	Spontaneous hematomas	HP:0007420
538	ATP7A	Microcephaly	HP:0000252
538	ATP7A	Coxa vara	HP:0002812
538	ATP7A	Hypertonia	HP:0001276
538	ATP7A	Hypothermia	HP:0002045
538	ATP7A	Orthostatic hypotension	HP:0001278
538	ATP7A	Pectus excavatum	HP:0000767
540	ATP7B	Abnormality of the hand	HP:0001155
540	ATP7B	Drooling	HP:0002307
540	ATP7B	Glycosuria	HP:0003076
540	ATP7B	Hypersexuality	HP:0030214
540	ATP7B	Autosomal recessive inheritance	HP:0000007
540	ATP7B	Clumsiness	HP:0002312
540	ATP7B	Abnormality of the menstrual cycle	HP:0000140
540	ATP7B	Arthralgia	HP:0002829
540	ATP7B	Nephrolithiasis	HP:0000787
540	ATP7B	Acute hepatic failure	HP:0006554
540	ATP7B	Aminoaciduria	HP:0003355
540	ATP7B	Mixed demyelinating and axonal polyneuropathy	HP:0007327
540	ATP7B	Weight loss	HP:0001824
540	ATP7B	Proximal muscle weakness in lower limbs	HP:0008994
540	ATP7B	Hyperphosphaturia	HP:0003109
540	ATP7B	Chondrocalcinosis	HP:0000934
540	ATP7B	Osteoporosis	HP:0000939
540	ATP7B	Difficulty walking	HP:0002355
540	ATP7B	Acute hepatitis	HP:0200119
540	ATP7B	Dystonia	HP:0001332
540	ATP7B	Jaundice	HP:0000952
540	ATP7B	Tremor	HP:0001337
540	ATP7B	Atypical or prolonged hepatitis	HP:0200122
540	ATP7B	Osteomalacia	HP:0002749
540	ATP7B	Hypoparathyroidism	HP:0000829
540	ATP7B	Hepatomegaly	HP:0002240
540	ATP7B	Pathologic fracture	HP:0002756
540	ATP7B	Osteoarthritis	HP:0002758
540	ATP7B	Depressivity	HP:0000716
540	ATP7B	Aggressive behavior	HP:0000718
540	ATP7B	Splenomegaly	HP:0001744
540	ATP7B	Thrombocytopenia	HP:0001873
540	ATP7B	Bruising susceptibility	HP:0000978
540	ATP7B	Hemolytic anemia	HP:0001878
540	ATP7B	High nonceruloplasmin-bound serum copper	HP:0010838
540	ATP7B	Dementia	HP:0000726
540	ATP7B	Arthritis	HP:0001369
540	ATP7B	Back pain	HP:0003418
540	ATP7B	Pruritus	HP:0000989
540	ATP7B	Bone pain	HP:0002653
540	ATP7B	Proteinuria	HP:0000093
540	ATP7B	Elevated hepatic transaminase	HP:0002910
540	ATP7B	Dysphagia	HP:0002015
540	ATP7B	Intellectual disability	HP:0001249
540	ATP7B	Kayser-Fleischer ring	HP:0200032
540	ATP7B	Poor motor coordination	HP:0002275
540	ATP7B	Failure to thrive	HP:0001508
540	ATP7B	Increased body weight	HP:0004324
540	ATP7B	Joint hypermobility	HP:0001382
540	ATP7B	Hypercalciuria	HP:0002150
540	ATP7B	Joint swelling	HP:0001386
540	ATP7B	Coma	HP:0001259
540	ATP7B	Dysarthria	HP:0001260
540	ATP7B	Anemia	HP:0001903
540	ATP7B	Personality changes	HP:0000751
540	ATP7B	Cirrhosis	HP:0001394
540	ATP7B	Hepatic steatosis	HP:0001397
540	ATP7B	Hepatic failure	HP:0001399
540	ATP7B	Polyneuropathy	HP:0001271
540	ATP7B	Esophageal varix	HP:0002040
540	ATP7B	Hepatocellular carcinoma	HP:0001402
540	ATP7B	Renal tubular dysfunction	HP:0000124
8733	GPAA1	Hyperreflexia	HP:0001347
8733	GPAA1	Optic atrophy	HP:0000648
8733	GPAA1	Infantile onset	HP:0003593
8733	GPAA1	Apraxia	HP:0002186
8733	GPAA1	Anteverted nares	HP:0000463
8733	GPAA1	Abnormal facial shape	HP:0001999
8733	GPAA1	Gait ataxia	HP:0002066
8733	GPAA1	Prominent forehead	HP:0011220
8733	GPAA1	Narrow forehead	HP:0000341
8733	GPAA1	Dysmetria	HP:0001310
8733	GPAA1	Intellectual disability	HP:0001249
8733	GPAA1	Poor speech	HP:0002465
8733	GPAA1	Myopia	HP:0000545
8733	GPAA1	Seizures	HP:0001250
8733	GPAA1	Cerebellar hypoplasia	HP:0001321
8733	GPAA1	Spasticity	HP:0001257
8733	GPAA1	Osteopenia	HP:0000938
8733	GPAA1	Osteoporosis	HP:0000939
8733	GPAA1	Dysarthria	HP:0001260
8733	GPAA1	Inability to walk	HP:0002540
8733	GPAA1	Delayed speech and language development	HP:0000750
8733	GPAA1	Global developmental delay	HP:0001263
8733	GPAA1	Wide nasal bridge	HP:0000431
8733	GPAA1	EEG abnormality	HP:0002353
8733	GPAA1	Variable expressivity	HP:0003828
8733	GPAA1	Cerebellar atrophy	HP:0001272
8733	GPAA1	Tremor	HP:0001337
8733	GPAA1	Visual impairment	HP:0000505
8733	GPAA1	Nystagmus	HP:0000639
8737	RIPK1	Chronic lung disease	HP:0006528
8737	RIPK1	Inflammation of the large intestine	HP:0002037
8737	RIPK1	Decreased antibody level in blood	HP:0004313
8737	RIPK1	Skin rash	HP:0000988
8737	RIPK1	Bronchiectasis	HP:0002110
8737	RIPK1	Diarrhea	HP:0002014
8737	RIPK1	Gastritis	HP:0005263
8737	RIPK1	Recurrent infections	HP:0002719
545	ATR	Absent earlobe	HP:0000387
545	ATR	Autosomal dominant inheritance	HP:0000006
545	ATR	Autosomal recessive inheritance	HP:0000007
545	ATR	Large basal ganglia	HP:0007048
545	ATR	Hip dislocation	HP:0002827
545	ATR	Dislocated radial head	HP:0003083
545	ATR	Ridged nail	HP:0001807
545	ATR	Narrow face	HP:0000275
545	ATR	Pachygyria	HP:0001302
545	ATR	Hypoplasia of dental enamel	HP:0006297
545	ATR	Cryptorchidism	HP:0000028
545	ATR	Carious teeth	HP:0000670
545	ATR	Sparse scalp hair	HP:0002209
545	ATR	Hypoplasia of proximal radius	HP:0006434
545	ATR	Dental crowding	HP:0000678
545	ATR	Cerebellar vermis hypoplasia	HP:0001320
545	ATR	Abnormality of dental enamel	HP:0000682
545	ATR	Hypoplasia of proximal fibula	HP:0006442
545	ATR	Elbow flexion contracture	HP:0002987
545	ATR	Cleft palate	HP:0000175
545	ATR	Hypospadias	HP:0000047
545	ATR	Dental malocclusion	HP:0000689
545	ATR	Proportionate short stature	HP:0003508
545	ATR	Selective tooth agenesis	HP:0001592
545	ATR	Breast carcinoma	HP:0003002
545	ATR	Single transverse palmar crease	HP:0000954
545	ATR	Convex nasal ridge	HP:0000444
545	ATR	Sandal gap	HP:0001852
545	ATR	Joint hyperflexibility	HP:0005692
545	ATR	Alopecia	HP:0001596
545	ATR	Delayed skeletal maturation	HP:0002750
545	ATR	Cognitive impairment	HP:0100543
545	ATR	Prominent nose	HP:0000448
545	ATR	Postnatal growth retardation	HP:0008897
545	ATR	Abnormally large globe	HP:0001090
545	ATR	Facial asymmetry	HP:0000324
545	ATR	Blepharophimosis	HP:0000581
545	ATR	Prematurely aged appearance	HP:0007495
545	ATR	Reduced number of teeth	HP:0009804
545	ATR	Mild global developmental delay	HP:0011342
545	ATR	Craniosynostosis	HP:0001363
545	ATR	Cone-shaped epiphysis	HP:0010579
545	ATR	Sloping forehead	HP:0000340
545	ATR	Pancytopenia	HP:0001876
545	ATR	Ivory epiphyses	HP:0010583
545	ATR	Clitoral hypertrophy	HP:0008665
545	ATR	Scoliosis	HP:0002650
545	ATR	High palate	HP:0000218
545	ATR	Micrognathia	HP:0000347
545	ATR	Talipes	HP:0001883
545	ATR	Intellectual disability	HP:0001249
545	ATR	Short stature	HP:0004322
545	ATR	Seizures	HP:0001250
545	ATR	Pes planus	HP:0001763
545	ATR	Cachexia	HP:0004326
545	ATR	Strabismus	HP:0000486
545	ATR	Intrauterine growth retardation	HP:0001511
545	ATR	Hip dysplasia	HP:0001385
545	ATR	Small anterior fontanelle	HP:0000237
545	ATR	Downslanted palpebral fissures	HP:0000494
545	ATR	11 pairs of ribs	HP:0000878
545	ATR	Hyperactivity	HP:0000752
545	ATR	Clinodactyly of the 5th finger	HP:0004209
545	ATR	Telangiectasia	HP:0001009
545	ATR	Low-set ears	HP:0000369
545	ATR	Glaucoma	HP:0000501
545	ATR	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
545	ATR	Abnormality of the pinna	HP:0000377
545	ATR	Microcephaly	HP:0000252
545	ATR	Abnormal finger flexion creases	HP:0006143
8738	CRADD	Intellectual disability	HP:0001249
8738	CRADD	Increased head circumference	HP:0040194
8738	CRADD	Seizures	HP:0001250
8738	CRADD	Pachygyria	HP:0001302
8738	CRADD	Autosomal recessive inheritance	HP:0000007
8738	CRADD	Megalencephaly	HP:0001355
8738	CRADD	Lissencephaly	HP:0001339
8738	CRADD	Delayed speech and language development	HP:0000750
546	ATRX	Umbilical hernia	HP:0001537
546	ATRX	Drooling	HP:0002307
546	ATRX	Recurrent urinary tract infections	HP:0000010
546	ATRX	Cerebral atrophy	HP:0002059
546	ATRX	Dolichocephaly	HP:0000268
546	ATRX	Episodic abdominal pain	HP:0002574
546	ATRX	Malar flattening	HP:0000272
546	ATRX	Volvulus	HP:0002580
546	ATRX	Midface retrusion	HP:0011800
546	ATRX	Coarse facial features	HP:0000280
546	ATRX	Cryptorchidism	HP:0000028
546	ATRX	Decreased testicular size	HP:0008734
546	ATRX	Widely-spaced maxillary central incisors	HP:0001566
546	ATRX	Epicanthus	HP:0000286
546	ATRX	Weight loss	HP:0001824
546	ATRX	Hypoplasia of penis	HP:0008736
546	ATRX	Protracted diarrhea	HP:0004385
546	ATRX	Myopia	HP:0000545
546	ATRX	Male pseudohermaphroditism	HP:0000037
546	ATRX	Genu valgum	HP:0002857
546	ATRX	Poor appetite	HP:0004396
546	ATRX	Dyspnea	HP:0002094
546	ATRX	Scrotal hypoplasia	HP:0000046
546	ATRX	Myelodysplasia	HP:0002863
546	ATRX	Hypospadias	HP:0000047
546	ATRX	Shawl scrotum	HP:0000049
546	ATRX	Tented upper lip vermilion	HP:0010804
546	ATRX	Dysphasia	HP:0002357
546	ATRX	U-Shaped upper lip vermilion	HP:0010806
546	ATRX	Micropenis	HP:0000054
546	ATRX	Hypotension	HP:0002615
546	ATRX	Protruding tongue	HP:0010808
546	ATRX	Tricuspid regurgitation	HP:0005180
546	ATRX	Hypertelorism	HP:0000316
546	ATRX	Ambiguous genitalia	HP:0000062
546	ATRX	Abnormality of fontanelles	HP:0011328
546	ATRX	Exotropia	HP:0000577
546	ATRX	Hyperreflexia	HP:0001347
546	ATRX	Upslanted palpebral fissure	HP:0000582
546	ATRX	Increased serum serotonin	HP:0003144
546	ATRX	Cerebral cortical atrophy	HP:0002120
546	ATRX	Vesicoureteral reflux	HP:0000076
546	ATRX	Abnormal pulmonary valve cusp morphology	HP:0031566
546	ATRX	Abnormality of blood and blood-forming tissues	HP:0001871
546	ATRX	Encephalitis	HP:0002383
546	ATRX	Flat face	HP:0012368
546	ATRX	Thrombocytopenia	HP:0001873
546	ATRX	Increased circulating ACTH level	HP:0003154
546	ATRX	Neutropenia	HP:0001875
546	ATRX	Bronchospasm	HP:0025428
546	ATRX	Narrow forehead	HP:0000341
546	ATRX	Renal hypoplasia	HP:0000089
546	ATRX	Fatigue	HP:0012378
546	ATRX	Micrognathia	HP:0000347
546	ATRX	Flexion contracture	HP:0001371
546	ATRX	Talipes calcaneovalgus	HP:0001884
546	ATRX	Ventricular septal defect	HP:0001629
546	ATRX	Elevated hepatic transaminase	HP:0002910
546	ATRX	Iron deficiency anemia	HP:0001891
546	ATRX	Posteriorly rotated ears	HP:0000358
546	ATRX	Microtia	HP:0008551
546	ATRX	Renal agenesis	HP:0000104
546	ATRX	Blindness	HP:0000618
546	ATRX	Joint stiffness	HP:0001387
546	ATRX	Paraganglioma	HP:0002668
546	ATRX	Self-injurious behavior	HP:0100716
546	ATRX	Anemia	HP:0001903
546	ATRX	Intellectual disability, severe	HP:0010864
546	ATRX	Low-set ears	HP:0000369
546	ATRX	Coxa valga	HP:0002673
546	ATRX	Clinodactyly of the 5th finger	HP:0004209
546	ATRX	Hepatic failure	HP:0001399
546	ATRX	Hemivertebrae	HP:0002937
546	ATRX	Short nose	HP:0003196
546	ATRX	Hydronephrosis	HP:0000126
546	ATRX	Abnormal hemoglobin	HP:0011902
546	ATRX	HbH hemoglobin	HP:0011903
546	ATRX	Absent frontal sinuses	HP:0002688
546	ATRX	Reduced alpha/beta synthesis ratio	HP:0011907
546	ATRX	Brachydactyly	HP:0001156
546	ATRX	Clinodactyly	HP:0030084
546	ATRX	Hypogonadism	HP:0000135
546	ATRX	Optic atrophy	HP:0000648
546	ATRX	X-linked recessive inheritance	HP:0001419
546	ATRX	Microcytic anemia	HP:0001935
546	ATRX	X-linked dominant inheritance	HP:0001423
546	ATRX	Abnormality of metabolism/homeostasis	HP:0001939
546	ATRX	Sensorineural hearing impairment	HP:0000407
546	ATRX	Wide mouth	HP:0000154
546	ATRX	Bowel urgency	HP:0012701
546	ATRX	Macroglossia	HP:0000158
546	ATRX	Tapered finger	HP:0001182
546	ATRX	Depressed nasal bridge	HP:0005280
546	ATRX	Immunodeficiency	HP:0002721
546	ATRX	Perimembranous ventricular septal defect	HP:0011682
546	ATRX	Abnormality of the dentition	HP:0000164
546	ATRX	Feeding difficulties in infancy	HP:0008872
546	ATRX	Chronic noninfectious lymphadenopathy	HP:0002730
546	ATRX	Palpitations	HP:0001962
546	ATRX	Right ventricular failure	HP:0001708
546	ATRX	Wide nasal bridge	HP:0000431
546	ATRX	Thick lower lip vermilion	HP:0000179
546	ATRX	Abnormality of movement	HP:0100022
546	ATRX	Acute leukemia	HP:0002488
546	ATRX	Short upper lip	HP:0000188
546	ATRX	Delayed skeletal maturation	HP:0002750
546	ATRX	Kyphoscoliosis	HP:0002751
546	ATRX	Hepatomegaly	HP:0002240
546	ATRX	Profound global developmental delay	HP:0012736
546	ATRX	Lack of bowel sounds	HP:0030145
546	ATRX	Postnatal growth retardation	HP:0008897
546	ATRX	Open mouth	HP:0000194
546	ATRX	Triangular nasal tip	HP:0000451
546	ATRX	Cardiogenic shock	HP:0030149
546	ATRX	Hematemesis	HP:0002248
546	ATRX	Melena	HP:0002249
546	ATRX	Depressed nasal ridge	HP:0000457
546	ATRX	Aganglionic megacolon	HP:0002251
546	ATRX	Depressivity	HP:0000716
546	ATRX	Autism	HP:0000717
546	ATRX	Intermittent diarrhea	HP:0002254
546	ATRX	Hypoplastic philtrum	HP:0005326
546	ATRX	Anteverted nares	HP:0000463
546	ATRX	Splenomegaly	HP:0001744
546	ATRX	Bruising susceptibility	HP:0000978
546	ATRX	Facial telangiectasia	HP:0007380
546	ATRX	Slender finger	HP:0001238
546	ATRX	Short neck	HP:0000470
546	ATRX	High palate	HP:0000218
546	ATRX	Thin upper lip vermilion	HP:0000219
546	ATRX	Vomiting	HP:0002013
546	ATRX	Nausea and vomiting	HP:0002017
546	ATRX	Intellectual disability	HP:0001249
546	ATRX	Talipes equinovarus	HP:0001762
546	ATRX	Short stature	HP:0004322
546	ATRX	Seizures	HP:0001250
546	ATRX	Pes planus	HP:0001763
546	ATRX	Constipation	HP:0002019
546	ATRX	Gastroesophageal reflux	HP:0002020
546	ATRX	Muscular hypotonia	HP:0001252
546	ATRX	Growth delay	HP:0001510
546	ATRX	Intellectual disability, progressive	HP:0006887
546	ATRX	Hypochromic microcytic anemia	HP:0004840
546	ATRX	Everted lower lip vermilion	HP:0000232
546	ATRX	Obesity	HP:0001513
546	ATRX	Spasticity	HP:0001257
546	ATRX	Spastic paraplegia	HP:0001258
546	ATRX	Dermatological manifestations of systemic disorders	HP:0001005
546	ATRX	Paroxysmal bursts of laughter	HP:0000749
546	ATRX	Atypical pulmonary carcinoid tumor	HP:0030446
546	ATRX	Lower limb hypertonia	HP:0006895
546	ATRX	Global developmental delay	HP:0001263
546	ATRX	Hyperactivity	HP:0000752
546	ATRX	Death in infancy	HP:0001522
546	ATRX	Infantile muscular hypotonia	HP:0008947
546	ATRX	Anorexia	HP:0002039
546	ATRX	Radial deviation of finger	HP:0009466
546	ATRX	Agenesis of corpus callosum	HP:0001274
546	ATRX	Telecanthus	HP:0000506
546	ATRX	Zollinger-Ellison syndrome	HP:0002044
546	ATRX	Microcephaly	HP:0000252
546	ATRX	Ptosis	HP:0000508
547	KIF1A	Areflexia	HP:0001284
547	KIF1A	Autosomal dominant inheritance	HP:0000006
547	KIF1A	Autosomal recessive inheritance	HP:0000007
547	KIF1A	Infantile onset	HP:0003593
547	KIF1A	Leg muscle stiffness	HP:0008969
547	KIF1A	Generalized hypotonia	HP:0001290
547	KIF1A	Cerebral atrophy	HP:0002059
547	KIF1A	Unsteady gait	HP:0002317
547	KIF1A	Lower limb spasticity	HP:0002061
547	KIF1A	Malar flattening	HP:0000272
547	KIF1A	Spastic gait	HP:0002064
547	KIF1A	Dystrophic toenail	HP:0001810
547	KIF1A	Urinary bladder sphincter dysfunction	HP:0002839
547	KIF1A	Midface retrusion	HP:0011800
547	KIF1A	Drowsiness	HP:0002329
547	KIF1A	Paronychia	HP:0001818
547	KIF1A	Epicanthus	HP:0000286
547	KIF1A	Dysmetria	HP:0001310
547	KIF1A	Abnormal cortical bone morphology	HP:0003103
547	KIF1A	Autoamputation of digits	HP:0007460
547	KIF1A	Full cheeks	HP:0000293
547	KIF1A	Abnormality of epiphysis morphology	HP:0005930
547	KIF1A	Lower limb amyotrophy	HP:0007210
547	KIF1A	Osteolytic defects of the phalanges of the hand	HP:0009771
547	KIF1A	Episodic hyperhidrosis	HP:0001069
547	KIF1A	Foot acroosteolysis	HP:0001842
547	KIF1A	Decreased number of peripheral myelinated nerve fibers	HP:0003380
547	KIF1A	Abnormal saccadic eye movements	HP:0000570
547	KIF1A	Visual loss	HP:0000572
547	KIF1A	Decreased corneal reflex	HP:0008000
547	KIF1A	Absent speech	HP:0001344
547	KIF1A	Hyperreflexia	HP:0001347
547	KIF1A	Biparietal narrowing	HP:0004422
547	KIF1A	Ventriculomegaly	HP:0002119
547	KIF1A	Cerebral cortical atrophy	HP:0002120
547	KIF1A	Porencephalic cyst	HP:0002132
547	KIF1A	Wormian bones	HP:0002645
547	KIF1A	Lower limb hyperreflexia	HP:0002395
547	KIF1A	Flexion contracture	HP:0001371
547	KIF1A	Progressive	HP:0003676
547	KIF1A	Slow progression	HP:0003677
547	KIF1A	Limitation of joint mobility	HP:0001376
547	KIF1A	Cerebral visual impairment	HP:0100704
547	KIF1A	Painless fractures due to injury	HP:0002661
547	KIF1A	Peripheral neuropathy	HP:0009830
547	KIF1A	Progressive spastic paraplegia	HP:0007020
547	KIF1A	Distal amyotrophy	HP:0003693
547	KIF1A	Peripheral edema	HP:0012398
547	KIF1A	Intellectual disability, severe	HP:0010864
547	KIF1A	Scissor gait	HP:0012407
547	KIF1A	Decreased sensory nerve conduction velocity	HP:0003448
547	KIF1A	Distal sensory impairment	HP:0002936
547	KIF1A	Short nose	HP:0003196
547	KIF1A	External ear malformation	HP:0008572
547	KIF1A	Nystagmus	HP:0000639
547	KIF1A	Skeletal muscle atrophy	HP:0003202
547	KIF1A	Optic atrophy	HP:0000648
547	KIF1A	Macrotia	HP:0000400
547	KIF1A	Abnormality of metabolism/homeostasis	HP:0001939
547	KIF1A	Peripheral axonal neuropathy	HP:0003477
547	KIF1A	Recurrent respiratory infections	HP:0002205
547	KIF1A	Tapered finger	HP:0001182
547	KIF1A	Babinski sign	HP:0003487
547	KIF1A	Feeding difficulties in infancy	HP:0008872
547	KIF1A	Lower limb muscle weakness	HP:0007340
547	KIF1A	Severe muscular hypotonia	HP:0006829
547	KIF1A	Abnormal palate morphology	HP:0000174
547	KIF1A	Abnormality of upper lip	HP:0000177
547	KIF1A	Diffuse cerebellar atrophy	HP:0100275
547	KIF1A	Infantile spasms	HP:0012469
547	KIF1A	Ankle clonus	HP:0011448
547	KIF1A	Palpebral edema	HP:0100540
547	KIF1A	Feeding difficulties	HP:0011968
547	KIF1A	Open mouth	HP:0000194
547	KIF1A	Atrophy/Degeneration affecting the brainstem	HP:0007366
547	KIF1A	Dystrophic fingernails	HP:0008391
547	KIF1A	Cerebellar vermis atrophy	HP:0006855
547	KIF1A	Abnormality of the hip bone	HP:0003272
547	KIF1A	Anhidrosis	HP:0000970
547	KIF1A	Anteverted nares	HP:0000463
547	KIF1A	Hyperhidrosis	HP:0000975
547	KIF1A	Gingival overgrowth	HP:0000212
547	KIF1A	Abnormality of the ankles	HP:0003028
547	KIF1A	Hypsarrhythmia	HP:0002521
547	KIF1A	Decreased taste sensation	HP:0000224
547	KIF1A	Intellectual disability	HP:0001249
547	KIF1A	Short stature	HP:0004322
547	KIF1A	Seizures	HP:0001250
547	KIF1A	Talipes equinovarus	HP:0001762
547	KIF1A	Ataxia	HP:0001251
547	KIF1A	Muscular hypotonia	HP:0001252
547	KIF1A	Gastroesophageal reflux	HP:0002020
547	KIF1A	Sensorimotor neuropathy	HP:0007141
547	KIF1A	Muscular hypotonia of the trunk	HP:0008936
547	KIF1A	Acral ulceration	HP:0006121
547	KIF1A	Spasticity	HP:0001257
547	KIF1A	Spastic paraplegia	HP:0001258
547	KIF1A	Hyperlordosis	HP:0003307
547	KIF1A	Inability to walk	HP:0002540
547	KIF1A	Hydrocephalus	HP:0000238
547	KIF1A	Global developmental delay	HP:0001263
547	KIF1A	Abnormality of eye movement	HP:0000496
547	KIF1A	Hyporeflexia	HP:0001265
547	KIF1A	Arthrogryposis multiplex congenita	HP:0002804
547	KIF1A	Variable expressivity	HP:0003828
547	KIF1A	Pedal edema	HP:0010741
547	KIF1A	Cerebellar atrophy	HP:0001272
547	KIF1A	Decreased nerve conduction velocity	HP:0000762
547	KIF1A	Microcephaly	HP:0000252
547	KIF1A	Reduced bone mineral density	HP:0004349
547	KIF1A	Abnormality of the knee	HP:0002815
549	AUH	Hepatomegaly	HP:0002240
549	AUH	Athetosis	HP:0002305
549	AUH	Hyperreflexia	HP:0001347
549	AUH	Spastic tetraparesis	HP:0001285
549	AUH	Febrile seizures	HP:0002373
549	AUH	Autosomal recessive inheritance	HP:0000007
549	AUH	Optic atrophy	HP:0000648
549	AUH	Infantile onset	HP:0003593
549	AUH	Cerebral atrophy	HP:0002059
549	AUH	Psychomotor retardation	HP:0025356
549	AUH	Spastic tetraplegia	HP:0002510
549	AUH	3-Methylglutaconic aciduria	HP:0003535
549	AUH	Urinary incontinence	HP:0000020
549	AUH	Abnormality of the basal ganglia	HP:0002134
549	AUH	Metabolic acidosis	HP:0001942
549	AUH	Hypoglycemia	HP:0001943
549	AUH	Progressive cerebellar ataxia	HP:0002073
549	AUH	Short attention span	HP:0000736
549	AUH	Seizures	HP:0001250
549	AUH	Ataxia	HP:0001251
549	AUH	Failure to thrive	HP:0001508
549	AUH	Coma	HP:0001259
549	AUH	Dysarthria	HP:0001260
549	AUH	Delayed speech and language development	HP:0000750
549	AUH	Global developmental delay	HP:0001263
549	AUH	Leukoencephalopathy	HP:0002352
549	AUH	Dystonia	HP:0001332
549	AUH	Motor delay	HP:0001270
549	AUH	Microcephaly	HP:0000252
549	AUH	Cognitive impairment	HP:0100543
8742	TNFSF12	Lymphopenia	HP:0001888
8742	TNFSF12	Immunodeficiency	HP:0002721
8742	TNFSF12	Chronic otitis media	HP:0000389
8742	TNFSF12	Anal atresia	HP:0002023
8742	TNFSF12	Lymphoma	HP:0002665
8742	TNFSF12	Vasculitis	HP:0002633
8742	TNFSF12	Pneumonia	HP:0002090
8742	TNFSF12	Restrictive ventilatory defect	HP:0002091
8742	TNFSF12	Arthralgia	HP:0002829
8742	TNFSF12	Splenomegaly	HP:0001744
8742	TNFSF12	Emphysema	HP:0002097
8742	TNFSF12	Gastrointestinal stroma tumor	HP:0100723
8742	TNFSF12	Purpura	HP:0000979
8742	TNFSF12	Autoimmune thrombocytopenia	HP:0001973
8742	TNFSF12	Recurrent bronchitis	HP:0002837
8742	TNFSF12	Hemolytic anemia	HP:0001878
8742	TNFSF12	Brachycephaly	HP:0000248
8742	TNFSF12	Decreased antibody level in blood	HP:0004313
8742	TNFSF12	Failure to thrive in infancy	HP:0001531
8742	TNFSF12	Lymphadenopathy	HP:0002716
8742	TNFSF12	Bronchiectasis	HP:0002110
8742	TNFSF12	Elevated hepatic transaminase	HP:0002910
8742	TNFSF12	Posterior pharyngeal cleft	HP:0006783
551	AVP	Weight loss	HP:0001824
551	AVP	Irritability	HP:0000737
551	AVP	Lethargy	HP:0001254
551	AVP	Growth delay	HP:0001510
551	AVP	Autosomal dominant inheritance	HP:0000006
551	AVP	Polydipsia	HP:0001959
551	AVP	Diabetes insipidus	HP:0000873
551	AVP	Osteopenia	HP:0000938
551	AVP	Abnormality of metabolism/homeostasis	HP:0001939
551	AVP	Long philtrum	HP:0000343
551	AVP	Fever	HP:0001945
551	AVP	Gliosis	HP:0002171
551	AVP	Short nose	HP:0003196
551	AVP	Hypertelorism	HP:0000316
551	AVP	Vomiting	HP:0002013
551	AVP	Wide nose	HP:0000445
551	AVP	Diarrhea	HP:0002014
551	AVP	Central diabetes insipidus	HP:0000863
554	AVPR2	Feeding difficulties	HP:0011968
554	AVPR2	Hypertonic dehydration	HP:0001986
554	AVPR2	Elevated systolic blood pressure	HP:0004421
554	AVPR2	Decreased serum creatinine	HP:0012101
554	AVPR2	Hydroureter	HP:0000072
554	AVPR2	X-linked recessive inheritance	HP:0001419
554	AVPR2	Nephrogenic diabetes insipidus	HP:0009806
554	AVPR2	Heterogeneous	HP:0001425
554	AVPR2	Renal insufficiency	HP:0000083
554	AVPR2	Megacystis	HP:0000021
554	AVPR2	Hyposthenuria	HP:0003158
554	AVPR2	Hyponatremia	HP:0002902
554	AVPR2	Decreased circulating renin level	HP:0003351
554	AVPR2	Fever	HP:0001945
554	AVPR2	Polyhydramnios	HP:0001561
554	AVPR2	Hypernatremia	HP:0003228
554	AVPR2	Vomiting	HP:0002013
554	AVPR2	Irritability	HP:0000737
554	AVPR2	Intellectual disability	HP:0001249
554	AVPR2	Nausea and vomiting	HP:0002017
554	AVPR2	Short stature	HP:0004322
554	AVPR2	Seizures	HP:0001250
554	AVPR2	Hypovolemia	HP:0011106
554	AVPR2	Constipation	HP:0002019
554	AVPR2	Unexplained fevers	HP:0001955
554	AVPR2	Failure to thrive	HP:0001508
554	AVPR2	Neonatal onset	HP:0003623
554	AVPR2	Polyuria	HP:0000103
554	AVPR2	Polydipsia	HP:0001959
554	AVPR2	Feeding difficulties in infancy	HP:0008872
554	AVPR2	Diabetes insipidus	HP:0000873
554	AVPR2	Hypernatremic dehydration	HP:0004906
554	AVPR2	Global developmental delay	HP:0001263
554	AVPR2	Enuresis nocturna	HP:0010677
554	AVPR2	Anorexia	HP:0002039
554	AVPR2	Hypernatriuria	HP:0012605
558	AXL	Sparse pubic hair	HP:0002225
558	AXL	Primary amenorrhea	HP:0000786
558	AXL	Gynecomastia	HP:0000771
558	AXL	Infertility	HP:0000789
558	AXL	Micropenis	HP:0000054
558	AXL	Autosomal dominant inheritance	HP:0000006
558	AXL	Sparse axillary hair	HP:0002215
558	AXL	Autosomal recessive inheritance	HP:0000007
558	AXL	Cryptorchidism	HP:0000028
558	AXL	Hypogonadotrophic hypogonadism	HP:0000044
558	AXL	Decreased testicular size	HP:0008734
8754	ADAM9	Cone/cone-rod dystrophy	HP:0000548
8754	ADAM9	Photophobia	HP:0000613
8754	ADAM9	Nyctalopia	HP:0000662
8754	ADAM9	Color vision defect	HP:0000551
8754	ADAM9	Abnormality of retinal pigmentation	HP:0007703
8754	ADAM9	Autosomal recessive inheritance	HP:0000007
8754	ADAM9	Visual impairment	HP:0000505
567	B2M	Hepatomegaly	HP:0002240
567	B2M	Hypoalbuminemia	HP:0003073
567	B2M	Hypoproteinemia	HP:0003075
567	B2M	Autosomal dominant inheritance	HP:0000006
567	B2M	Autosomal recessive inheritance	HP:0000007
567	B2M	Keratoconjunctivitis sicca	HP:0001097
567	B2M	Edema	HP:0000969
567	B2M	Intermittent diarrhea	HP:0002254
567	B2M	Hypoplasia of the ulna	HP:0003022
567	B2M	Generalized amyloid deposition	HP:0003216
567	B2M	Splenomegaly	HP:0001744
567	B2M	Vertigo	HP:0002321
567	B2M	Gastrointestinal dysmotility	HP:0002579
567	B2M	Hematuria	HP:0000790
567	B2M	Xerostomia	HP:0000217
567	B2M	Decreased circulating IgG level	HP:0004315
567	B2M	Skin rash	HP:0000988
567	B2M	Autonomic bladder dysfunction	HP:0005341
567	B2M	Recurrent respiratory infections	HP:0002205
567	B2M	Proteinuria	HP:0000093
567	B2M	Weight loss	HP:0001824
567	B2M	Chronic constipation	HP:0012450
567	B2M	Chronic axonal neuropathy	HP:0007267
567	B2M	Nephrotic syndrome	HP:0000100
567	B2M	Malabsorption	HP:0002024
567	B2M	Radial bowing	HP:0002986
567	B2M	Chronic diarrhea	HP:0002028
567	B2M	Bowel incontinence	HP:0002607
567	B2M	Nephropathy	HP:0000112
567	B2M	Variable expressivity	HP:0003828
567	B2M	Cholestasis	HP:0001396
567	B2M	Hypertension	HP:0000822
567	B2M	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
567	B2M	Bronchiectasis	HP:0002110
567	B2M	Gastrointestinal hemorrhage	HP:0002239
90678	LRSAM1	Pes cavus	HP:0001761
90678	LRSAM1	Foot dorsiflexor weakness	HP:0009027
90678	LRSAM1	Areflexia	HP:0001284
90678	LRSAM1	Hammertoe	HP:0001765
90678	LRSAM1	Impaired distal vibration sensation	HP:0006886
90678	LRSAM1	Autosomal dominant inheritance	HP:0000006
90678	LRSAM1	Autosomal recessive inheritance	HP:0000007
90678	LRSAM1	Decreased motor nerve conduction velocity	HP:0003431
90678	LRSAM1	Fasciculations	HP:0002380
90678	LRSAM1	Distal amyotrophy	HP:0003693
90678	LRSAM1	Axonal degeneration	HP:0040078
90678	LRSAM1	Steppage gait	HP:0003376
90678	LRSAM1	Hyporeflexia	HP:0001265
90678	LRSAM1	Axonal degeneration/regeneration	HP:0003378
90678	LRSAM1	Toe walking	HP:0040083
90678	LRSAM1	Incomplete penetrance	HP:0003829
90678	LRSAM1	Distal sensory impairment	HP:0002936
90678	LRSAM1	Peripheral axonal degeneration	HP:0000764
90678	LRSAM1	Distal muscle weakness	HP:0002460
90678	LRSAM1	Slow progression	HP:0003677
570	BAAT	Failure to thrive	HP:0001508
570	BAAT	Vitamin K deficiency	HP:0011892
570	BAAT	Autosomal recessive inheritance	HP:0000007
570	BAAT	Increased serum bile acid concentration	HP:0012202
570	BAAT	Steatorrhea	HP:0002570
570	BAAT	Rickets	HP:0002748
570	BAAT	Pruritus	HP:0000989
246329	STAC3	Feeding difficulties	HP:0011968
246329	STAC3	Skeletal muscle atrophy	HP:0003202
246329	STAC3	Blepharophimosis	HP:0000581
246329	STAC3	Autosomal recessive inheritance	HP:0000007
246329	STAC3	Ventriculomegaly	HP:0002119
246329	STAC3	Short palpebral fissure	HP:0012745
246329	STAC3	Myopathic facies	HP:0002058
246329	STAC3	Multiple skeletal anomalies	HP:0005775
246329	STAC3	Conductive hearing impairment	HP:0000405
246329	STAC3	Midface retrusion	HP:0011800
246329	STAC3	High palate	HP:0000218
246329	STAC3	Downturned corners of mouth	HP:0002714
246329	STAC3	Flexion contracture	HP:0001371
246329	STAC3	Talipes	HP:0001883
246329	STAC3	Micrognathia	HP:0000347
246329	STAC3	Cryptorchidism	HP:0000028
246329	STAC3	Intellectual disability	HP:0001249
246329	STAC3	Short stature	HP:0004322
246329	STAC3	Muscle weakness	HP:0001324
246329	STAC3	Downslanted palpebral fissures	HP:0000494
246329	STAC3	Cleft palate	HP:0000175
246329	STAC3	Low-set ears	HP:0000369
246329	STAC3	Hyporeflexia	HP:0001265
246329	STAC3	Motor delay	HP:0001270
246329	STAC3	Brachycephaly	HP:0000248
246329	STAC3	Telecanthus	HP:0000506
246329	STAC3	Microcephaly	HP:0000252
246329	STAC3	Ptosis	HP:0000508
246329	STAC3	Restrictive deficit on pulmonary function testing	HP:0002111
246329	STAC3	Kyphoscoliosis	HP:0002751
246329	STAC3	Malignant hyperthermia	HP:0002047
8763	CD164	Variable expressivity	HP:0003828
8763	CD164	Autosomal dominant inheritance	HP:0000006
8763	CD164	Sensorineural hearing impairment	HP:0000407
579	NKX3-2	Macrocephaly	HP:0000256
579	NKX3-2	Pseudoepiphyses of hand bones	HP:0004288
579	NKX3-2	Disproportionate short-trunk short stature	HP:0003521
579	NKX3-2	Protuberant abdomen	HP:0001538
579	NKX3-2	Short ribs	HP:0000773
579	NKX3-2	Autosomal recessive inheritance	HP:0000007
579	NKX3-2	Genu valgum	HP:0002857
579	NKX3-2	Metaphyseal irregularity	HP:0003025
579	NKX3-2	Hypoplastic ilia	HP:0000946
579	NKX3-2	Abnormality of the epididymis	HP:0009714
579	NKX3-2	Enlarged epiphyses	HP:0010580
579	NKX3-2	Delayed pubic bone ossification	HP:0008788
579	NKX3-2	Short neck	HP:0000470
579	NKX3-2	Abnormally ossified vertebrae	HP:0100569
579	NKX3-2	Genu varum	HP:0002970
579	NKX3-2	Flexion contracture	HP:0001371
579	NKX3-2	Coxa vara	HP:0002812
579	NKX3-2	Hypertelorism	HP:0000316
579	NKX3-2	Metaphyseal dysplasia	HP:0100255
254528	MEIOB	Infertility	HP:0000789
254528	MEIOB	Increased circulating gonadotropin level	HP:0000837
254528	MEIOB	Non-obstructive azoospermia	HP:0011961
254528	MEIOB	Obstructive azoospermia	HP:0011962
254528	MEIOB	Azoospermia	HP:0000027
254528	MEIOB	Decreased testicular size	HP:0008734
580	BARD1	Abnormality of the fallopian tube	HP:0011027
580	BARD1	Ovarian neoplasm	HP:0100615
580	BARD1	Primary peritoneal carcinoma	HP:0030406
580	BARD1	Breast carcinoma	HP:0003002
580	BARD1	Prostate cancer	HP:0012125
580	BARD1	Melanoma	HP:0002861
580	BARD1	Neoplasm of the pancreas	HP:0002894
8772	FADD	Seizures	HP:0001250
8772	FADD	Decreased liver function	HP:0001410
8772	FADD	Encephalopathy	HP:0001298
8772	FADD	Hepatic fibrosis	HP:0001395
8772	FADD	Pulmonary artery atresia	HP:0004935
8772	FADD	Autosomal recessive inheritance	HP:0000007
8772	FADD	Autoimmune antibody positivity	HP:0030057
8772	FADD	Cerebral atrophy	HP:0002059
8772	FADD	Ventricular septal defect	HP:0001629
8772	FADD	Recurrent infections	HP:0002719
582	BBS1	Macrocephaly	HP:0000256
582	BBS1	Abnormal electroretinogram	HP:0000512
582	BBS1	Skeletal muscle atrophy	HP:0003202
582	BBS1	Multicystic kidney dysplasia	HP:0000003
582	BBS1	Brachydactyly	HP:0001156
582	BBS1	Cataract	HP:0000518
582	BBS1	Hypogonadism	HP:0000135
582	BBS1	Autosomal recessive inheritance	HP:0000007
582	BBS1	Syndactyly	HP:0001159
582	BBS1	Abnormality of the ovary	HP:0000137
582	BBS1	Postaxial hand polydactyly	HP:0001162
582	BBS1	High, narrow palate	HP:0002705
582	BBS1	Vaginal atresia	HP:0000148
582	BBS1	Hypoplasia of the ovary	HP:0008724
582	BBS1	Hypodontia	HP:0000668
582	BBS1	Cryptorchidism	HP:0000028
582	BBS1	Decreased testicular size	HP:0008734
582	BBS1	Hypoplasia of penis	HP:0008736
582	BBS1	Myopia	HP:0000545
582	BBS1	Retinal degeneration	HP:0000546
582	BBS1	Foot polydactyly	HP:0001829
582	BBS1	Dental crowding	HP:0000678
582	BBS1	Prominent nasal bridge	HP:0000426
582	BBS1	Retinal dystrophy	HP:0000556
582	BBS1	Left ventricular hypertrophy	HP:0001712
582	BBS1	Specific learning disability	HP:0001328
582	BBS1	Diabetes mellitus	HP:0000819
582	BBS1	Asthma	HP:0002099
582	BBS1	Hypertension	HP:0000822
582	BBS1	Micropenis	HP:0000054
582	BBS1	Generalized hirsutism	HP:0002230
582	BBS1	Biliary tract abnormality	HP:0001080
582	BBS1	Poor coordination	HP:0002370
582	BBS1	Pigmentary retinopathy	HP:0000580
582	BBS1	Aganglionic megacolon	HP:0002251
582	BBS1	Abnormality of the kidney	HP:0000077
582	BBS1	Nephrogenic diabetes insipidus	HP:0009806
582	BBS1	Finger syndactyly	HP:0006101
582	BBS1	Short neck	HP:0000470
582	BBS1	High palate	HP:0000218
582	BBS1	Gait imbalance	HP:0002141
582	BBS1	Intellectual disability	HP:0001249
582	BBS1	Short stature	HP:0004322
582	BBS1	Astigmatism	HP:0000483
582	BBS1	Ataxia	HP:0001251
582	BBS1	Nephrotic syndrome	HP:0000100
582	BBS1	Strabismus	HP:0000486
582	BBS1	Broad foot	HP:0001769
582	BBS1	Allergy	HP:0012393
582	BBS1	Obesity	HP:0001513
582	BBS1	Short foot	HP:0001773
582	BBS1	Hearing impairment	HP:0000365
582	BBS1	Delayed speech and language development	HP:0000750
582	BBS1	Downslanted palpebral fissures	HP:0000494
582	BBS1	Global developmental delay	HP:0001263
582	BBS1	Hirsutism	HP:0001007
582	BBS1	Low-set, posteriorly rotated ears	HP:0000368
582	BBS1	Hepatic fibrosis	HP:0001395
582	BBS1	Glaucoma	HP:0000501
582	BBS1	Neurological speech impairment	HP:0002167
582	BBS1	Radial deviation of finger	HP:0009466
582	BBS1	Medial flaring of the eyebrow	HP:0010747
582	BBS1	Rod-cone dystrophy	HP:0000510
582	BBS1	Nystagmus	HP:0000639
583	BBS2	Abnormal electroretinogram	HP:0000512
583	BBS2	Skeletal muscle atrophy	HP:0003202
583	BBS2	Multicystic kidney dysplasia	HP:0000003
583	BBS2	Cataract	HP:0000518
583	BBS2	Autosomal recessive inheritance	HP:0000007
583	BBS2	Hypogonadism	HP:0000135
583	BBS2	Optic atrophy	HP:0000648
583	BBS2	Postaxial hand polydactyly	HP:0001162
583	BBS2	Hypoplasia of the ovary	HP:0008724
583	BBS2	Conductive hearing impairment	HP:0000405
583	BBS2	Sensorineural hearing impairment	HP:0000407
583	BBS2	Abnormality of retinal pigmentation	HP:0007703
583	BBS2	Cryptorchidism	HP:0000028
583	BBS2	Optic disc pallor	HP:0000543
583	BBS2	Hypoplasia of penis	HP:0008736
583	BBS2	Retinal degeneration	HP:0000546
583	BBS2	Abnormal testis morphology	HP:0000035
583	BBS2	Postaxial foot polydactyly	HP:0001830
583	BBS2	External genital hypoplasia	HP:0003241
583	BBS2	Prominent nasal bridge	HP:0000426
583	BBS2	Wide nasal bridge	HP:0000431
583	BBS2	Diabetes mellitus	HP:0000819
583	BBS2	Keratoconus	HP:0000563
583	BBS2	Hypertension	HP:0000822
583	BBS2	Generalized hirsutism	HP:0002230
583	BBS2	Hyperreflexia	HP:0001347
583	BBS2	Pigmentary retinopathy	HP:0000580
583	BBS2	Hyperinsulinemia	HP:0000842
583	BBS2	Anteverted nares	HP:0000463
583	BBS2	Finger syndactyly	HP:0006101
583	BBS2	Short neck	HP:0000470
583	BBS2	Ophthalmoplegia	HP:0000602
583	BBS2	Type II diabetes mellitus	HP:0005978
583	BBS2	Atypical scarring of skin	HP:0000987
583	BBS2	Posterior polar cataract	HP:0001115
583	BBS2	Atrial septal defect	HP:0001631
583	BBS2	Intellectual disability	HP:0001249
583	BBS2	Short stature	HP:0004322
583	BBS2	Nephrotic syndrome	HP:0000100
583	BBS2	Photophobia	HP:0000613
583	BBS2	Obesity	HP:0001513
583	BBS2	Blindness	HP:0000618
583	BBS2	Dilated cardiomyopathy	HP:0001644
583	BBS2	Constriction of peripheral visual field	HP:0001133
583	BBS2	Hearing impairment	HP:0000365
583	BBS2	Abnormal retinal vascular morphology	HP:0008046
583	BBS2	Downslanted palpebral fissures	HP:0000494
583	BBS2	Global developmental delay	HP:0001263
583	BBS2	Bicuspid aortic valve	HP:0001647
583	BBS2	Low-set, posteriorly rotated ears	HP:0000368
583	BBS2	Hepatic fibrosis	HP:0001395
583	BBS2	Glaucoma	HP:0000501
583	BBS2	Neurological speech impairment	HP:0002167
583	BBS2	Progressive night blindness	HP:0007675
583	BBS2	Medial flaring of the eyebrow	HP:0010747
583	BBS2	Rod-cone dystrophy	HP:0000510
583	BBS2	Nystagmus	HP:0000639
585	BBS4	Abnormal electroretinogram	HP:0000512
585	BBS4	Skeletal muscle atrophy	HP:0003202
585	BBS4	Multicystic kidney dysplasia	HP:0000003
585	BBS4	Brachydactyly	HP:0001156
585	BBS4	Pigmentary retinopathy	HP:0000580
585	BBS4	Hypogonadism	HP:0000135
585	BBS4	Syndactyly	HP:0001159
585	BBS4	Autosomal recessive inheritance	HP:0000007
585	BBS4	Polydactyly	HP:0010442
585	BBS4	Postaxial hand polydactyly	HP:0001162
585	BBS4	Hypoplasia of the ovary	HP:0008724
585	BBS4	Finger syndactyly	HP:0006101
585	BBS4	Nyctalopia	HP:0000662
585	BBS4	Short neck	HP:0000470
585	BBS4	Cryptorchidism	HP:0000028
585	BBS4	Hypoplasia of penis	HP:0008736
585	BBS4	Intellectual disability	HP:0001249
585	BBS4	Retinal degeneration	HP:0000546
585	BBS4	Short stature	HP:0004322
585	BBS4	Abnormality of the dentition	HP:0000164
585	BBS4	Nephrotic syndrome	HP:0000100
585	BBS4	Obesity	HP:0001513
585	BBS4	External genital hypoplasia	HP:0003241
585	BBS4	Prominent nasal bridge	HP:0000426
585	BBS4	Renal cyst	HP:0000107
585	BBS4	Hearing impairment	HP:0000365
585	BBS4	Downslanted palpebral fissures	HP:0000494
585	BBS4	Low-set, posteriorly rotated ears	HP:0000368
585	BBS4	Hepatic fibrosis	HP:0001395
585	BBS4	Hypertension	HP:0000822
585	BBS4	Generalized hirsutism	HP:0002230
585	BBS4	Neurological speech impairment	HP:0002167
585	BBS4	Medial flaring of the eyebrow	HP:0010747
585	BBS4	Rod-cone dystrophy	HP:0000510
585	BBS4	Nystagmus	HP:0000639
8777	MPDZ	Macrocephaly	HP:0000256
8777	MPDZ	Colpocephaly	HP:0030048
8777	MPDZ	Intellectual disability	HP:0001249
8777	MPDZ	Seizures	HP:0001250
8777	MPDZ	Iris coloboma	HP:0000612
8777	MPDZ	Posteriorly rotated ears	HP:0000358
8777	MPDZ	Strabismus	HP:0000486
8777	MPDZ	Autosomal recessive inheritance	HP:0000007
8777	MPDZ	Ventriculomegaly	HP:0002119
8777	MPDZ	Optic atrophy	HP:0000648
8777	MPDZ	Gray matter heterotopia	HP:0002282
8777	MPDZ	Downslanted palpebral fissures	HP:0000494
8777	MPDZ	Abnormal facial shape	HP:0001999
8777	MPDZ	Macular hypoplasia	HP:0001104
8777	MPDZ	Variable expressivity	HP:0003828
8777	MPDZ	Motor delay	HP:0001270
8777	MPDZ	Communicating hydrocephalus	HP:0001334
8777	MPDZ	Frontal bossing	HP:0002007
8777	MPDZ	Simplified gyral pattern	HP:0009879
8777	MPDZ	Sensorineural hearing impairment	HP:0000407
8777	MPDZ	Congenital onset	HP:0003577
8777	MPDZ	Lissencephaly	HP:0001339
593	BCKDHA	Intellectual disability	HP:0001249
593	BCKDHA	Hallucinations	HP:0000738
593	BCKDHA	Seizures	HP:0001250
593	BCKDHA	Growth abnormality	HP:0001507
593	BCKDHA	Ataxia	HP:0001251
593	BCKDHA	Muscular hypotonia	HP:0001252
593	BCKDHA	Cerebral edema	HP:0002181
593	BCKDHA	Pancreatitis	HP:0001733
593	BCKDHA	Lethargy	HP:0001254
593	BCKDHA	Autosomal recessive inheritance	HP:0000007
593	BCKDHA	Feeding difficulties in infancy	HP:0008872
593	BCKDHA	Generalized hypotonia	HP:0001290
593	BCKDHA	Coma	HP:0001259
593	BCKDHA	Recurrent	HP:0031796
593	BCKDHA	Increased level of hippuric acid in urine	HP:0410066
593	BCKDHA	Hypoglycemia	HP:0001943
593	BCKDHA	Elevated plasma branched chain amino acids	HP:0008344
593	BCKDHA	Lactic acidosis	HP:0003128
593	BCKDHA	Ketosis	HP:0001946
593	BCKDHA	Hypertonia	HP:0001276
593	BCKDHA	Vomiting	HP:0002013
594	BCKDHB	Intellectual disability	HP:0001249
594	BCKDHB	Hallucinations	HP:0000738
594	BCKDHB	Seizures	HP:0001250
594	BCKDHB	Growth abnormality	HP:0001507
594	BCKDHB	Ataxia	HP:0001251
594	BCKDHB	Muscular hypotonia	HP:0001252
594	BCKDHB	Cerebral edema	HP:0002181
594	BCKDHB	Pancreatitis	HP:0001733
594	BCKDHB	Lethargy	HP:0001254
594	BCKDHB	Autosomal recessive inheritance	HP:0000007
594	BCKDHB	Feeding difficulties in infancy	HP:0008872
594	BCKDHB	Generalized hypotonia	HP:0001290
594	BCKDHB	Coma	HP:0001259
594	BCKDHB	Recurrent	HP:0031796
594	BCKDHB	Increased level of hippuric acid in urine	HP:0410066
594	BCKDHB	Hypoglycemia	HP:0001943
594	BCKDHB	Elevated plasma branched chain amino acids	HP:0008344
594	BCKDHB	Lactic acidosis	HP:0003128
594	BCKDHB	Ketosis	HP:0001946
594	BCKDHB	Hypertonia	HP:0001276
594	BCKDHB	Vomiting	HP:0002013
8787	RGS9	Photophobia	HP:0000613
8787	RGS9	Visual impairment	HP:0000505
8787	RGS9	Bradyopsia	HP:0030511
595	CCND1	Hypercalcemia	HP:0003072
595	CCND1	Spinal cord compression	HP:0002176
595	CCND1	Pathologic fracture	HP:0002756
595	CCND1	Paresthesia	HP:0003401
595	CCND1	Vertebral compression fractures	HP:0002953
595	CCND1	Abnormality of the bladder	HP:0000014
595	CCND1	Splenomegaly	HP:0001744
595	CCND1	Abnormality of the gastrointestinal tract	HP:0011024
595	CCND1	Decreased antibody level in blood	HP:0004313
595	CCND1	Fever	HP:0001945
595	CCND1	Fatigue	HP:0012378
595	CCND1	Pleural effusion	HP:0002202
595	CCND1	Lymphadenopathy	HP:0002716
595	CCND1	Bone pain	HP:0002653
595	CCND1	B-cell lymphoma	HP:0012191
595	CCND1	Weight loss	HP:0001824
595	CCND1	Tall stature	HP:0000098
595	CCND1	Nephrotic syndrome	HP:0000100
595	CCND1	Increased circulating IgG level	HP:0003237
595	CCND1	Hyperproteinemia	HP:0002152
595	CCND1	Osteopenia	HP:0000938
595	CCND1	Anemia	HP:0001903
595	CCND1	Functional abnormality of the gastrointestinal tract	HP:0012719
595	CCND1	Nephropathy	HP:0000112
595	CCND1	Abnormality of vitamin B12 metabolism	HP:0004341
595	CCND1	Anorexia	HP:0002039
595	CCND1	Abnormality of bone marrow cell morphology	HP:0005561
595	CCND1	Elevated serum creatinine	HP:0003259
595	CCND1	Generalized muscle weakness	HP:0003324
595	CCND1	Increased circulating IgA level	HP:0003261
595	CCND1	Acute kidney injury	HP:0001919
596	BCL2	Mediastinal lymphadenopathy	HP:0100721
596	BCL2	Splenomegaly	HP:0001744
596	BCL2	Weight loss	HP:0001824
596	BCL2	Night sweats	HP:0030166
596	BCL2	Meningitis	HP:0001287
596	BCL2	Skin nodule	HP:0200036
596	BCL2	Fever	HP:0001945
596	BCL2	Abnormality of the peritoneum	HP:0002585
596	BCL2	Lymphoma	HP:0002665
596	BCL2	Pleural effusion	HP:0002202
596	BCL2	Fatigue	HP:0012378
596	BCL2	Lymphedema	HP:0001004
131669	UROC1	Short stature	HP:0004322
131669	UROC1	Ataxia	HP:0001251
131669	UROC1	Intellectual disability, progressive	HP:0006887
131669	UROC1	Autosomal recessive inheritance	HP:0000007
131669	UROC1	Action tremor	HP:0002345
131669	UROC1	Gaze-evoked horizontal nystagmus	HP:0007979
131669	UROC1	Dysarthria	HP:0001260
131669	UROC1	Urocanic aciduria	HP:0012237
131669	UROC1	Fair hair	HP:0002286
131669	UROC1	Aggressive behavior	HP:0000718
131669	UROC1	Intellectual disability, severe	HP:0010864
131669	UROC1	Hyperactive deep tendon reflexes	HP:0006801
131669	UROC1	Gait ataxia	HP:0002066
131669	UROC1	Abnormal circulating histidine concentration	HP:0010904
131669	UROC1	Broad-based gait	HP:0002136
131669	UROC1	Tremor	HP:0001337
131669	UROC1	Blue irides	HP:0000635
131669	UROC1	Truncal ataxia	HP:0002078
131669	UROC1	Recurrent infections	HP:0002719
131669	UROC1	Nystagmus	HP:0000639
115286	SLC25A26	Ragged-red muscle fibers	HP:0003200
115286	SLC25A26	Congestive heart failure	HP:0001635
115286	SLC25A26	Severe lactic acidosis	HP:0004900
115286	SLC25A26	Increased serum lactate	HP:0002151
115286	SLC25A26	Autosomal recessive inheritance	HP:0000007
115286	SLC25A26	Infantile onset	HP:0003593
115286	SLC25A26	Generalized hypotonia	HP:0001290
115286	SLC25A26	Abdominal pain	HP:0002027
115286	SLC25A26	Poor appetite	HP:0004396
115286	SLC25A26	Muscle weakness	HP:0001324
115286	SLC25A26	Global developmental delay	HP:0001263
115286	SLC25A26	Decreased activity of mitochondrial complex I	HP:0011923
115286	SLC25A26	Variable expressivity	HP:0003828
115286	SLC25A26	Increased serum pyruvate	HP:0003542
115286	SLC25A26	Decreased fetal movement	HP:0001558
115286	SLC25A26	Polyhydramnios	HP:0001561
115286	SLC25A26	Fatigue	HP:0012378
115286	SLC25A26	Decreased activity of mitochondrial complex IV	HP:0008347
115286	SLC25A26	Respiratory failure	HP:0002878
8792	TNFRSF11A	Macrocephaly	HP:0000256
8792	TNFRSF11A	Pectus carinatum	HP:0000768
8792	TNFRSF11A	Thin bony cortex	HP:0002753
8792	TNFRSF11A	Increased head circumference	HP:0040194
8792	TNFRSF11A	Pathologic fracture	HP:0002756
8792	TNFRSF11A	Recurrent pneumonia	HP:0006532
8792	TNFRSF11A	Recurrent fractures	HP:0002757
8792	TNFRSF11A	Autosomal dominant inheritance	HP:0000006
8792	TNFRSF11A	Autosomal recessive inheritance	HP:0000007
8792	TNFRSF11A	Hydroxyprolinuria	HP:0003080
8792	TNFRSF11A	Optic atrophy	HP:0000648
8792	TNFRSF11A	Proptosis	HP:0000520
8792	TNFRSF11A	Subcutaneous nodule	HP:0001482
8792	TNFRSF11A	Generalized hypotonia	HP:0001290
8792	TNFRSF11A	Psychomotor retardation	HP:0025356
8792	TNFRSF11A	Premature loss of teeth	HP:0006480
8792	TNFRSF11A	Thrombocytopenia	HP:0001873
8792	TNFRSF11A	Progressive visual loss	HP:0000529
8792	TNFRSF11A	Elevated alkaline phosphatase	HP:0003155
8792	TNFRSF11A	Conductive hearing impairment	HP:0000405
8792	TNFRSF11A	Cranial hyperostosis	HP:0004437
8792	TNFRSF11A	Bowing of the long bones	HP:0006487
8792	TNFRSF11A	Abnormality of retinal pigmentation	HP:0007703
8792	TNFRSF11A	Hypocalcemic seizures	HP:0002199
8792	TNFRSF11A	Decreased antibody level in blood	HP:0004313
8792	TNFRSF11A	Progressive	HP:0003676
8792	TNFRSF11A	Bone pain	HP:0002653
8792	TNFRSF11A	Short stature	HP:0004322
8792	TNFRSF11A	Melanocytic nevus	HP:0000995
8792	TNFRSF11A	Fragile teeth	HP:0025124
8792	TNFRSF11A	Abnormality of the dentition	HP:0000164
8792	TNFRSF11A	Hyperuricemia	HP:0002149
8792	TNFRSF11A	Osteoporosis	HP:0000939
8792	TNFRSF11A	Dilation of lateral ventricles	HP:0006956
8792	TNFRSF11A	Osteolysis	HP:0002797
8792	TNFRSF11A	Hearing impairment	HP:0000365
8792	TNFRSF11A	Hydrocephalus	HP:0000238
8792	TNFRSF11A	Anemia	HP:0001903
8792	TNFRSF11A	Global developmental delay	HP:0001263
8792	TNFRSF11A	Multiple rib fractures	HP:0006640
8792	TNFRSF11A	Hypertension	HP:0000822
8792	TNFRSF11A	Motor delay	HP:0001270
8792	TNFRSF11A	Abnormality of the clavicle	HP:0000889
8792	TNFRSF11A	Osteopetrosis	HP:0011002
8792	TNFRSF11A	Abnormal trabecular bone morphology	HP:0100671
8792	TNFRSF11A	Rough bone trabeculation	HP:0100670
8792	TNFRSF11A	Nystagmus	HP:0000639
8792	TNFRSF11A	Optic nerve compression	HP:0007807
8795	TNFRSF10B	Autosomal recessive inheritance	HP:0000007
8795	TNFRSF10B	Squamous cell carcinoma	HP:0002860
604	BCL6	Mediastinal lymphadenopathy	HP:0100721
604	BCL6	Splenomegaly	HP:0001744
604	BCL6	Weight loss	HP:0001824
604	BCL6	Night sweats	HP:0030166
604	BCL6	Meningitis	HP:0001287
604	BCL6	Skin nodule	HP:0200036
604	BCL6	Fever	HP:0001945
604	BCL6	Abnormality of the peritoneum	HP:0002585
604	BCL6	Lymphoma	HP:0002665
604	BCL6	Pleural effusion	HP:0002202
604	BCL6	Fatigue	HP:0012378
604	BCL6	Lymphedema	HP:0001004
8799	PEX11B	Macrocephaly	HP:0000256
8799	PEX11B	Ichthyosis	HP:0008064
8799	PEX11B	Multicystic kidney dysplasia	HP:0000003
8799	PEX11B	Wide anterior fontanel	HP:0000260
8799	PEX11B	Facial palsy	HP:0010628
8799	PEX11B	Areflexia	HP:0001284
8799	PEX11B	Cataract	HP:0000518
8799	PEX11B	Developmental cataract	HP:0000519
8799	PEX11B	Autosomal recessive inheritance	HP:0000007
8799	PEX11B	Optic atrophy	HP:0000648
8799	PEX11B	Abnormality of coagulation	HP:0001928
8799	PEX11B	Dolichocephaly	HP:0000268
8799	PEX11B	Primary adrenal insufficiency	HP:0008207
8799	PEX11B	Abnormality of metabolism/homeostasis	HP:0001939
8799	PEX11B	Abnormal chorioretinal morphology	HP:0000532
8799	PEX11B	Urinary incontinence	HP:0000020
8799	PEX11B	Corneal opacity	HP:0007957
8799	PEX11B	Nyctalopia	HP:0000662
8799	PEX11B	Sensorineural hearing impairment	HP:0000407
8799	PEX11B	Abnormality of retinal pigmentation	HP:0007703
8799	PEX11B	Arrhythmia	HP:0011675
8799	PEX11B	Cryptorchidism	HP:0000028
8799	PEX11B	Migraine	HP:0002076
8799	PEX11B	Abnormality of the tongue	HP:0000157
8799	PEX11B	Epicanthus	HP:0000286
8799	PEX11B	Epiphyseal stippling	HP:0010655
8799	PEX11B	Depressed nasal bridge	HP:0005280
8799	PEX11B	Hydrocele testis	HP:0000034
8799	PEX11B	Underdeveloped supraorbital ridges	HP:0009891
8799	PEX11B	Reduced tendon reflexes	HP:0001315
8799	PEX11B	Feeding difficulties in infancy	HP:0008872
8799	PEX11B	Abnormality of epiphysis morphology	HP:0005930
8799	PEX11B	Muscle weakness	HP:0001324
8799	PEX11B	Respiratory insufficiency	HP:0002093
8799	PEX11B	Severe muscular hypotonia	HP:0006829
8799	PEX11B	Abnormal palate morphology	HP:0000174
8799	PEX11B	Bilateral single transverse palmar creases	HP:0007598
8799	PEX11B	Hypospadias	HP:0000047
8799	PEX11B	Wide nasal bridge	HP:0000431
8799	PEX11B	EEG abnormality	HP:0002353
8799	PEX11B	Jaundice	HP:0000952
8799	PEX11B	Cognitive impairment	HP:0100543
8799	PEX11B	Dry skin	HP:0000958
8799	PEX11B	Profound global developmental delay	HP:0012736
8799	PEX11B	Brushfield spots	HP:0001088
8799	PEX11B	Hepatomegaly	HP:0002240
8799	PEX11B	Progressive hearing impairment	HP:0001730
8799	PEX11B	Hyperreflexia	HP:0001347
8799	PEX11B	Behavioral abnormality	HP:0000708
8799	PEX11B	Upslanted palpebral fissure	HP:0000582
8799	PEX11B	Developmental regression	HP:0002376
8799	PEX11B	Elevated levels of phytanic acid	HP:0010571
8799	PEX11B	Polymicrogyria	HP:0002126
8799	PEX11B	Anteverted nares	HP:0000463
8799	PEX11B	Flat face	HP:0012368
8799	PEX11B	Severe global developmental delay	HP:0011344
8799	PEX11B	Premature birth	HP:0001622
8799	PEX11B	Clitoral hypertrophy	HP:0008665
8799	PEX11B	Thickened nuchal skin fold	HP:0000474
8799	PEX11B	High palate	HP:0000218
8799	PEX11B	Micrognathia	HP:0000347
8799	PEX11B	Skeletal dysplasia	HP:0002652
8799	PEX11B	High forehead	HP:0000348
8799	PEX11B	Ventricular septal defect	HP:0001629
8799	PEX11B	Flat occiput	HP:0005469
8799	PEX11B	Abnormality of neuronal migration	HP:0002269
8799	PEX11B	Seizures	HP:0001250
8799	PEX11B	Short stature	HP:0004322
8799	PEX11B	Ataxia	HP:0001251
8799	PEX11B	Failure to thrive	HP:0001508
8799	PEX11B	Muscular hypotonia	HP:0001252
8799	PEX11B	Pyloric stenosis	HP:0002021
8799	PEX11B	Cardiomyopathy	HP:0001638
8799	PEX11B	Strabismus	HP:0000486
8799	PEX11B	Very long chain fatty acid accumulation	HP:0008167
8799	PEX11B	Malabsorption	HP:0002024
8799	PEX11B	Intellectual disability, mild	HP:0001256
8799	PEX11B	Spasticity	HP:0001257
8799	PEX11B	Constriction of peripheral visual field	HP:0001133
8799	PEX11B	Global developmental delay	HP:0001263
8799	PEX11B	Low-set, posteriorly rotated ears	HP:0000368
8799	PEX11B	Abnormality of the liver	HP:0001392
8799	PEX11B	Death in infancy	HP:0001522
8799	PEX11B	Posterior embryotoxon	HP:0000627
8799	PEX11B	Glaucoma	HP:0000501
8799	PEX11B	Hepatic failure	HP:0001399
8799	PEX11B	Polyneuropathy	HP:0001271
8799	PEX11B	Visual impairment	HP:0000505
8799	PEX11B	Progressive muscle weakness	HP:0003323
8799	PEX11B	External ear malformation	HP:0008572
8799	PEX11B	Microcephaly	HP:0000252
8799	PEX11B	Ptosis	HP:0000508
8799	PEX11B	Hydronephrosis	HP:0000126
8799	PEX11B	Rod-cone dystrophy	HP:0000510
8799	PEX11B	Nystagmus	HP:0000639
8802	SUCLG1	Feeding difficulties	HP:0011968
8802	SUCLG1	Skeletal muscle atrophy	HP:0003202
8802	SUCLG1	Autosomal recessive inheritance	HP:0000007
8802	SUCLG1	Infantile onset	HP:0003593
8802	SUCLG1	Cerebral atrophy	HP:0002059
8802	SUCLG1	Unsteady gait	HP:0002317
8802	SUCLG1	Hyperhidrosis	HP:0000975
8802	SUCLG1	Renal aminoaciduria	HP:0008335
8802	SUCLG1	Encephalopathy	HP:0001298
8802	SUCLG1	Hypoglycemia	HP:0001943
8802	SUCLG1	Methylmalonic aciduria	HP:0012120
8802	SUCLG1	Intellectual disability	HP:0001249
8802	SUCLG1	Seizures	HP:0001250
8802	SUCLG1	Ataxia	HP:0001251
8802	SUCLG1	Poor motor coordination	HP:0002275
8802	SUCLG1	Failure to thrive	HP:0001508
8802	SUCLG1	Hypophosphatemia	HP:0002148
8802	SUCLG1	Muscular hypotonia	HP:0001252
8802	SUCLG1	Growth delay	HP:0001510
8802	SUCLG1	Hearing impairment	HP:0000365
8802	SUCLG1	Global developmental delay	HP:0001263
8802	SUCLG1	Intellectual disability, severe	HP:0010864
8802	SUCLG1	Intermittent hyperpnea at rest	HP:0005941
8802	SUCLG1	Abnormality of the skin	HP:0000951
8802	SUCLG1	Lactic acidosis	HP:0003128
8802	SUCLG1	Respiratory failure	HP:0002878
8803	SUCLA2	Abnormal electroretinogram	HP:0000512
8803	SUCLA2	Athetosis	HP:0002305
8803	SUCLA2	Skeletal muscle atrophy	HP:0003202
8803	SUCLA2	Behavioral abnormality	HP:0000708
8803	SUCLA2	Facial diplegia	HP:0001349
8803	SUCLA2	Ventriculomegaly	HP:0002119
8803	SUCLA2	Autosomal recessive inheritance	HP:0000007
8803	SUCLA2	Abnormality of visual evoked potentials	HP:0000649
8803	SUCLA2	Infantile onset	HP:0003593
8803	SUCLA2	Generalized hypotonia	HP:0001290
8803	SUCLA2	Cerebral atrophy	HP:0002059
8803	SUCLA2	Decreased activity of mitochondrial respiratory chain	HP:0008972
8803	SUCLA2	Progressive encephalopathy	HP:0002448
8803	SUCLA2	Delayed gross motor development	HP:0002194
8803	SUCLA2	Cerebral calcification	HP:0002514
8803	SUCLA2	Abnormality of the basal ganglia	HP:0002134
8803	SUCLA2	Sensorineural hearing impairment	HP:0000407
8803	SUCLA2	Methylmalonic aciduria	HP:0012120
8803	SUCLA2	Ophthalmoplegia	HP:0000602
8803	SUCLA2	Aminoaciduria	HP:0003355
8803	SUCLA2	Methylmalonic acidemia	HP:0002912
8803	SUCLA2	Irritability	HP:0000737
8803	SUCLA2	Short stature	HP:0004322
8803	SUCLA2	Seizures	HP:0001250
8803	SUCLA2	Ataxia	HP:0001251
8803	SUCLA2	Elevated serum creatine kinase	HP:0003236
8803	SUCLA2	Failure to thrive	HP:0001508
8803	SUCLA2	Muscular hypotonia	HP:0001252
8803	SUCLA2	Cachexia	HP:0004326
8803	SUCLA2	Peripheral neuropathy	HP:0009830
8803	SUCLA2	Strabismus	HP:0000486
8803	SUCLA2	Intellectual disability, progressive	HP:0006887
8803	SUCLA2	Feeding difficulties in infancy	HP:0008872
8803	SUCLA2	Spasticity	HP:0001257
8803	SUCLA2	Global developmental delay	HP:0001263
8803	SUCLA2	Hyporeflexia	HP:0001265
8803	SUCLA2	Loss of ability to walk in early childhood	HP:0008945
8803	SUCLA2	Dystonia	HP:0001332
8803	SUCLA2	Generalized hirsutism	HP:0002230
8803	SUCLA2	Lactic acidosis	HP:0003128
8803	SUCLA2	Visual impairment	HP:0000505
8803	SUCLA2	Decreased nerve conduction velocity	HP:0000762
8803	SUCLA2	Respiratory insufficiency due to muscle weakness	HP:0002747
8803	SUCLA2	Ptosis	HP:0000508
8803	SUCLA2	Microcephaly	HP:0000252
611	OPN1SW	Abnormal light-adapted electroretinogram	HP:0008275
611	OPN1SW	Autosomal dominant inheritance	HP:0000006
611	OPN1SW	Tritanomaly	HP:0000552
611	OPN1SW	Dyschromatopsia	HP:0007641
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	Oculomotor apraxia	HP:0000657
613	BCR	High, narrow palate	HP:0002705
613	BCR	Somatic mutation	HP:0001428
613	BCR	Long face	HP:0000276
613	BCR	Inguinal hernia	HP:0000023
613	BCR	Sensorineural hearing impairment	HP:0000407
613	BCR	Fever	HP:0001945
613	BCR	Absent fingernail	HP:0001817
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	Polygenic inheritance	HP:0010982
613	BCR	Thrombocytosis	HP:0001894
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	Clinodactyly of the 5th finger	HP:0004209
613	BCR	Coxa valga	HP:0002673
613	BCR	Reduced leukocyte alkaline phosphatase	HP:0004852
613	BCR	Abnormal basophil morphology	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	Microcephaly	HP:0000252
613	BCR	Truncus arteriosus	HP:0001660
617	BCS1L	Ragged-red muscle fibers	HP:0003200
617	BCS1L	Rhabdomyolysis	HP:0003201
617	BCS1L	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	HP:0003329
617	BCS1L	Decreased liver function	HP:0001410
617	BCS1L	Death in early adulthood	HP:0100613
617	BCS1L	Mitochondrial encephalopathy	HP:0006789
617	BCS1L	Microvesicular hepatic steatosis	HP:0001414
617	BCS1L	Cataract	HP:0000518
617	BCS1L	Hypogonadism	HP:0000135
617	BCS1L	Autosomal recessive inheritance	HP:0000007
617	BCS1L	Optic atrophy	HP:0000648
617	BCS1L	Infantile onset	HP:0003593
617	BCS1L	CNS demyelination	HP:0007305
617	BCS1L	Generalized hypotonia	HP:0001290
617	BCS1L	Cerebral atrophy	HP:0002059
617	BCS1L	Psychomotor retardation	HP:0025356
617	BCS1L	Heterogeneous	HP:0001425
617	BCS1L	Mitochondrial inheritance	HP:0001427
617	BCS1L	Metabolic acidosis	HP:0001942
617	BCS1L	Sensorineural hearing impairment	HP:0000407
617	BCS1L	Hypoglycemia	HP:0001943
617	BCS1L	Aminoaciduria	HP:0003355
617	BCS1L	Decreased mitochondrial complex III activity in liver tissue	HP:0006558
617	BCS1L	Coarse hair	HP:0002208
617	BCS1L	Neonatal hypotonia	HP:0001319
617	BCS1L	Feeding difficulties in infancy	HP:0008872
617	BCS1L	Muscle weakness	HP:0001324
617	BCS1L	Respiratory insufficiency	HP:0002093
617	BCS1L	Decreased transferrin saturation	HP:0012464
617	BCS1L	Elevated hepatic iron concentration	HP:0012465
617	BCS1L	EEG abnormality	HP:0002353
617	BCS1L	Tubulointerstitial nephritis	HP:0001970
617	BCS1L	Dystonia	HP:0001332
617	BCS1L	Lactic acidosis	HP:0003128
617	BCS1L	Abnormality of the coagulation cascade	HP:0003256
617	BCS1L	Increased CSF lactate	HP:0002490
617	BCS1L	Alopecia	HP:0001596
617	BCS1L	Chronic lactic acidosis	HP:0004925
617	BCS1L	Respiratory failure	HP:0002878
617	BCS1L	Pili torti	HP:0003777
617	BCS1L	Hyperreflexia	HP:0001347
617	BCS1L	Pigmentary retinopathy	HP:0000580
617	BCS1L	Cholangitis	HP:0030151
617	BCS1L	Emotional lability	HP:0000712
617	BCS1L	Renal Fanconi syndrome	HP:0001994
617	BCS1L	Abnormality of the abdominal wall	HP:0004298
617	BCS1L	Anhidrosis	HP:0000970
617	BCS1L	Depressivity	HP:0000716
617	BCS1L	Increased serum ferritin	HP:0003281
617	BCS1L	Increased serum pyruvate	HP:0003542
617	BCS1L	Exercise intolerance	HP:0003546
617	BCS1L	Ophthalmoplegia	HP:0000602
617	BCS1L	Progressive	HP:0003676
617	BCS1L	Elevated hepatic transaminase	HP:0002910
617	BCS1L	Dry hair	HP:0011359
617	BCS1L	Intellectual disability	HP:0001249
617	BCS1L	Seizures	HP:0001250
617	BCS1L	Hallucinations	HP:0000738
617	BCS1L	Ataxia	HP:0001251
617	BCS1L	Muscular hypotonia	HP:0001252
617	BCS1L	Failure to thrive	HP:0001508
617	BCS1L	Strabismus	HP:0000486
617	BCS1L	Hypertrichosis	HP:0000998
617	BCS1L	Intrauterine growth retardation	HP:0001511
617	BCS1L	Hypertrophic cardiomyopathy	HP:0001639
617	BCS1L	Increased serum lactate	HP:0002151
617	BCS1L	Spasticity	HP:0001257
617	BCS1L	Abnormal pattern of respiration	HP:0002793
617	BCS1L	Dysarthria	HP:0001260
617	BCS1L	Hearing impairment	HP:0000365
617	BCS1L	Global developmental delay	HP:0001263
617	BCS1L	Cirrhosis	HP:0001394
617	BCS1L	Cholestasis	HP:0001396
617	BCS1L	Variable expressivity	HP:0003828
617	BCS1L	Hepatic steatosis	HP:0001397
617	BCS1L	Cerebellar atrophy	HP:0001272
617	BCS1L	Brittle hair	HP:0002299
617	BCS1L	Gliosis	HP:0002171
617	BCS1L	Increased serum iron	HP:0003452
617	BCS1L	Ptosis	HP:0000508
617	BCS1L	Hepatocellular necrosis	HP:0001404
617	BCS1L	Rod-cone dystrophy	HP:0000510
617	BCS1L	Nystagmus	HP:0000639
8812	CCNK	Low-set ears	HP:0000369
8812	CCNK	Narrow jaw	HP:0012801
8812	CCNK	High anterior hairline	HP:0009890
8812	CCNK	Thin eyebrow	HP:0045074
8812	CCNK	Posteriorly rotated ears	HP:0000358
8812	CCNK	Long philtrum	HP:0000343
8812	CCNK	Broad nasal tip	HP:0000455
8812	CCNK	Thick nasal alae	HP:0009928
8812	CCNK	Hypertelorism	HP:0000316
8812	CCNK	Long palpebral fissure	HP:0000637
8812	CCNK	Wide nasal bridge	HP:0000431
8812	CCNK	Global developmental delay	HP:0001263
8813	DPM1	Hemangioma	HP:0001028
8813	DPM1	Autosomal recessive inheritance	HP:0000007
8813	DPM1	Optic atrophy	HP:0000648
8813	DPM1	Infantile onset	HP:0003593
8813	DPM1	Generalized hypotonia	HP:0001290
8813	DPM1	High, narrow palate	HP:0002705
8813	DPM1	Depressed nasal bridge	HP:0005280
8813	DPM1	Elevated serum creatine kinase	HP:0003236
8813	DPM1	Reduced protein C activity	HP:0005543
8813	DPM1	EEG abnormality	HP:0002353
8813	DPM1	Respiratory distress	HP:0002098
8813	DPM1	Short palm	HP:0004279
8813	DPM1	Reduced antithrombin III activity	HP:0001976
8813	DPM1	Tremor	HP:0001337
8813	DPM1	Type I transferrin isoform profile	HP:0003642
8813	DPM1	Hypertelorism	HP:0000316
8813	DPM1	Prolonged partial thromboplastin time	HP:0003645
8813	DPM1	Smooth philtrum	HP:0000319
8813	DPM1	Hepatomegaly	HP:0002240
8813	DPM1	Ankle contracture	HP:0006466
8813	DPM1	Abnormal macular morphology	HP:0001103
8813	DPM1	Splenomegaly	HP:0001744
8813	DPM1	Severe global developmental delay	HP:0011344
8813	DPM1	Lower limb hyperreflexia	HP:0002395
8813	DPM1	Micrognathia	HP:0000347
8813	DPM1	Progressive	HP:0003676
8813	DPM1	Flat occiput	HP:0005469
8813	DPM1	Elevated hepatic transaminase	HP:0002910
8813	DPM1	Pontocerebellar atrophy	HP:0006879
8813	DPM1	Upper limb undergrowth	HP:0009824
8813	DPM1	Cerebral visual impairment	HP:0100704
8813	DPM1	Camptodactyly	HP:0012385
8813	DPM1	Seizures	HP:0001250
8813	DPM1	Ataxia	HP:0001251
8813	DPM1	Muscular hypotonia	HP:0001252
8813	DPM1	Failure to thrive	HP:0001508
8813	DPM1	Strabismus	HP:0000486
8813	DPM1	Muscular dystrophy	HP:0003560
8813	DPM1	Retinopathy	HP:0000488
8813	DPM1	Patent ductus arteriosus	HP:0001643
8813	DPM1	Postnatal microcephaly	HP:0005484
8813	DPM1	Knee flexion contracture	HP:0006380
8813	DPM1	Downslanted palpebral fissures	HP:0000494
8813	DPM1	Telangiectasia	HP:0001009
8813	DPM1	Nail dysplasia	HP:0002164
8813	DPM1	Variable expressivity	HP:0003828
8813	DPM1	Small hand	HP:0200055
8813	DPM1	Reduced protein S activity	HP:0004855
8813	DPM1	Abnormality of vision	HP:0000504
8813	DPM1	Microcephaly	HP:0000252
8813	DPM1	Nystagmus	HP:0000639
8815	BANF1	Right bundle branch block	HP:0011712
8815	BANF1	Abnormality of the ribs	HP:0000772
8815	BANF1	Delayed closure of the anterior fontanelle	HP:0001476
8815	BANF1	Autosomal recessive inheritance	HP:0000007
8815	BANF1	Proptosis	HP:0000520
8815	BANF1	Progressive clavicular acroosteolysis	HP:0000905
8815	BANF1	Sparse eyelashes	HP:0000653
8815	BANF1	Malar flattening	HP:0000272
8815	BANF1	Spotty hyperpigmentation	HP:0005585
8815	BANF1	Sparse and thin eyebrow	HP:0000535
8815	BANF1	Midface retrusion	HP:0011800
8815	BANF1	Scoliosis	HP:0002650
8815	BANF1	Micrognathia	HP:0000347
8815	BANF1	Flexion contracture	HP:0001371
8815	BANF1	Abnormality of the forearm	HP:0002973
8815	BANF1	Short stature	HP:0004322
8815	BANF1	Lipoatrophy	HP:0100578
8815	BANF1	Failure to thrive	HP:0001508
8815	BANF1	Dental crowding	HP:0000678
8815	BANF1	Wide cranial sutures	HP:0010537
8815	BANF1	Joint stiffness	HP:0001387
8815	BANF1	Osteoporosis	HP:0000939
8815	BANF1	Pulmonary arterial hypertension	HP:0002092
8815	BANF1	Osteolytic defects of the distal phalanges of the hand	HP:0009839
8815	BANF1	Hypertension	HP:0000822
8815	BANF1	Sinus tachycardia	HP:0011703
8815	BANF1	Convex nasal ridge	HP:0000444
8815	BANF1	Atherosclerosis	HP:0002621
8818	DPM2	Feeding difficulties	HP:0011968
8818	DPM2	Autosomal recessive inheritance	HP:0000007
8818	DPM2	Hypokinesia	HP:0002375
8818	DPM2	Optic atrophy	HP:0000648
8818	DPM2	Generalized hypotonia	HP:0001290
8818	DPM2	Myopathic facies	HP:0002058
8818	DPM2	Neonatal respiratory distress	HP:0002643
8818	DPM2	Abnormal isoelectric focusing of serum transferrin	HP:0003160
8818	DPM2	Hypotelorism	HP:0000601
8818	DPM2	High palate	HP:0000218
8818	DPM2	Cerebral white matter atrophy	HP:0012762
8818	DPM2	Scoliosis	HP:0002650
8818	DPM2	Micrognathia	HP:0000347
8818	DPM2	Thin upper lip vermilion	HP:0000219
8818	DPM2	Elevated hepatic transaminase	HP:0002910
8818	DPM2	Seizures	HP:0001250
8818	DPM2	Elevated serum creatine kinase	HP:0003236
8818	DPM2	Strabismus	HP:0000486
8818	DPM2	Cerebellar hypoplasia	HP:0001321
8818	DPM2	Postnatal microcephaly	HP:0005484
8818	DPM2	Primitive reflex	HP:0002476
8818	DPM2	Severe muscular hypotonia	HP:0006829
8818	DPM2	Global developmental delay	HP:0001263
8818	DPM2	Death in infancy	HP:0001522
8818	DPM2	Congenital contracture	HP:0002803
8818	DPM2	Congenital onset	HP:0003577
8818	DPM2	Short nose	HP:0003196
627	BDNF	Dysfunction of lateral corticospinal tracts	HP:0007299
627	BDNF	Cataract	HP:0000518
627	BDNF	Aganglionic megacolon	HP:0002251
627	BDNF	Displacement of the urethral meatus	HP:0100627
627	BDNF	Scoliosis	HP:0002650
627	BDNF	Ganglioneuroblastoma	HP:0006747
627	BDNF	Micrognathia	HP:0000347
627	BDNF	Cryptorchidism	HP:0000028
627	BDNF	Intellectual disability	HP:0001249
627	BDNF	Seizures	HP:0001250
627	BDNF	Short stature	HP:0004322
627	BDNF	Muscular hypotonia	HP:0001252
627	BDNF	Everted lower lip vermilion	HP:0000232
627	BDNF	Obesity	HP:0001513
627	BDNF	Hearing abnormality	HP:0000364
627	BDNF	Respiratory insufficiency	HP:0002093
627	BDNF	Aplasia/Hypoplasia of the iris	HP:0008053
627	BDNF	Glaucoma	HP:0000501
627	BDNF	Visual impairment	HP:0000505
627	BDNF	Microcephaly	HP:0000252
627	BDNF	Ptosis	HP:0000508
627	BDNF	Ganglioneuroma	HP:0003005
627	BDNF	Cognitive impairment	HP:0100543
627	BDNF	Ambiguous genitalia	HP:0000062
627	BDNF	Nystagmus	HP:0000639
8820	HESX1	Umbilical hernia	HP:0001537
8820	HESX1	Gynecomastia	HP:0000771
8820	HESX1	Autosomal dominant inheritance	HP:0000006
8820	HESX1	Autosomal recessive inheritance	HP:0000007
8820	HESX1	Gait disturbance	HP:0001288
8820	HESX1	Central hypothyroidism	HP:0011787
8820	HESX1	Psychomotor retardation	HP:0025356
8820	HESX1	Tracheoesophageal fistula	HP:0002575
8820	HESX1	Primary amenorrhea	HP:0000786
8820	HESX1	Infertility	HP:0000789
8820	HESX1	Hemiplegia/hemiparesis	HP:0004374
8820	HESX1	Coarse facial features	HP:0000280
8820	HESX1	Cryptorchidism	HP:0000028
8820	HESX1	Decreased cervical spine mobility	HP:0004637
8820	HESX1	Decreased testicular size	HP:0008734
8820	HESX1	Erectile abnormalities	HP:0100639
8820	HESX1	Hypoplasia of penis	HP:0008736
8820	HESX1	Color vision defect	HP:0000551
8820	HESX1	Hypogonadotrophic hypogonadism	HP:0000044
8820	HESX1	Muscle weakness	HP:0001324
8820	HESX1	Absent septum pellucidum	HP:0001331
8820	HESX1	Pituitary hypothyroidism	HP:0008245
8820	HESX1	Median cleft lip and palate	HP:0008501
8820	HESX1	Hypothyroidism	HP:0000821
8820	HESX1	Micropenis	HP:0000054
8820	HESX1	Paraplegia	HP:0010550
8820	HESX1	Delayed puberty	HP:0000823
8820	HESX1	Hypotension	HP:0002615
8820	HESX1	Bimanual synkinesia	HP:0001335
8820	HESX1	Sleep disturbance	HP:0002360
8820	HESX1	Growth hormone deficiency	HP:0000824
8820	HESX1	Tremor	HP:0001337
8820	HESX1	Hyposmia	HP:0004409
8820	HESX1	Anterior hypopituitarism	HP:0000830
8820	HESX1	Dyspareunia	HP:0030016
8820	HESX1	Adrenal hypoplasia	HP:0000835
8820	HESX1	Aplasia/Hypoplasia of the breasts	HP:0010311
8820	HESX1	Pituitary dwarfism	HP:0000839
8820	HESX1	Maternal diabetes	HP:0009800
8820	HESX1	Abnormality of the voice	HP:0001608
8820	HESX1	Reduced number of teeth	HP:0009804
8820	HESX1	Holoprosencephaly	HP:0001360
8820	HESX1	Severe global developmental delay	HP:0011344
8820	HESX1	Optic disc hypoplasia	HP:0007766
8820	HESX1	Fatigue	HP:0012378
8820	HESX1	Skeletal dysplasia	HP:0002652
8820	HESX1	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
8820	HESX1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
8820	HESX1	Optic nerve hypoplasia	HP:0000609
8820	HESX1	Decreased circulating ACTH level	HP:0002920
8820	HESX1	Renal agenesis	HP:0000104
8820	HESX1	Diabetes insipidus	HP:0000873
8820	HESX1	Breast hypoplasia	HP:0003187
8820	HESX1	Nystagmus	HP:0000639
8820	HESX1	Ichthyosis	HP:0008064
8820	HESX1	Anterior pituitary agenesis	HP:0010626
8820	HESX1	Anterior pituitary hypoplasia	HP:0010627
8820	HESX1	Amenorrhea	HP:0000141
8820	HESX1	Decreased fertility	HP:0000144
8820	HESX1	Abnormal prolactin level	HP:0040086
8820	HESX1	Sensorineural hearing impairment	HP:0000407
8820	HESX1	Hypoglycemia	HP:0001943
8820	HESX1	Abnormality of secondary sexual hair	HP:0009888
8820	HESX1	Short finger	HP:0009381
8820	HESX1	Polydipsia	HP:0001959
8820	HESX1	Osteopenia	HP:0000938
8820	HESX1	Cleft palate	HP:0000175
8820	HESX1	Jaundice	HP:0000952
8820	HESX1	Ectopic anterior pituitary gland	HP:0012731
8820	HESX1	Dry skin	HP:0000958
8820	HESX1	Delayed skeletal maturation	HP:0002750
8820	HESX1	Feeding difficulties	HP:0011968
8820	HESX1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
8820	HESX1	Recurrent fractures	HP:0002757
8820	HESX1	Abdominal distention	HP:0003270
8820	HESX1	Hypohidrosis	HP:0000966
8820	HESX1	Depressed nasal ridge	HP:0000457
8820	HESX1	Oral cleft	HP:0000202
8820	HESX1	Polydactyly	HP:0010442
8820	HESX1	Anosmia	HP:0000458
8820	HESX1	Autism	HP:0000717
8820	HESX1	Abnormality of cardiovascular system morphology	HP:0030680
8820	HESX1	Intellectual disability	HP:0001249
8820	HESX1	Pes cavus	HP:0001761
8820	HESX1	Short stature	HP:0004322
8820	HESX1	Seizures	HP:0001250
8820	HESX1	Constipation	HP:0002019
8820	HESX1	Ataxia	HP:0001251
8820	HESX1	Pes planus	HP:0001763
8820	HESX1	Muscular hypotonia	HP:0001252
8820	HESX1	Failure to thrive	HP:0001508
8820	HESX1	Strabismus	HP:0000486
8820	HESX1	Obesity	HP:0001513
8820	HESX1	Septo-optic dysplasia	HP:0100842
8820	HESX1	Ectopic posterior pituitary	HP:0011755
8820	HESX1	Dysarthria	HP:0001260
8820	HESX1	Global developmental delay	HP:0001263
8820	HESX1	Large fontanelles	HP:0000239
8820	HESX1	Esophageal atresia	HP:0002032
8820	HESX1	Death in infancy	HP:0001522
8820	HESX1	Visual impairment	HP:0000505
8820	HESX1	Osteoporosis of vertebrae	HP:0005625
8820	HESX1	Agenesis of corpus callosum	HP:0001274
8820	HESX1	Absence of secondary sex characteristics	HP:0008187
8820	HESX1	Ptosis	HP:0000508
8820	HESX1	Reduced bone mineral density	HP:0004349
629	CFB	Recurrent meningococcal disease	HP:0005381
629	CFB	Decreased serum complement factor B	HP:0005416
629	CFB	Pneumonia	HP:0002090
629	CFB	Peritonitis	HP:0002586
8822	FGF17	Ichthyosis	HP:0008064
8822	FGF17	Abnormality of body height	HP:0000002
8822	FGF17	Gynecomastia	HP:0000771
8822	FGF17	Absence of pubertal development	HP:0008197
8822	FGF17	Autosomal dominant inheritance	HP:0000006
8822	FGF17	Female hypogonadism	HP:0000134
8822	FGF17	Autosomal recessive inheritance	HP:0000007
8822	FGF17	Hypogonadism	HP:0000135
8822	FGF17	Gait disturbance	HP:0001288
8822	FGF17	Hypoplasia of the uterus	HP:0000013
8822	FGF17	Decreased fertility	HP:0000144
8822	FGF17	Primary amenorrhea	HP:0000786
8822	FGF17	Hypoplasia of the ovary	HP:0008724
8822	FGF17	Infertility	HP:0000789
8822	FGF17	Sensorineural hearing impairment	HP:0000407
8822	FGF17	Male hypogonadism	HP:0000026
8822	FGF17	Cryptorchidism	HP:0000028
8822	FGF17	Decreased testicular size	HP:0008734
8822	FGF17	Erectile abnormalities	HP:0100639
8822	FGF17	Depressed nasal bridge	HP:0005280
8822	FGF17	Impotence	HP:0000802
8822	FGF17	Abnormality of the dentition	HP:0000164
8822	FGF17	Sparse axillary hair	HP:0002215
8822	FGF17	Color vision defect	HP:0000551
8822	FGF17	Osteopenia	HP:0000938
8822	FGF17	Osteoporosis	HP:0000939
8822	FGF17	Hypogonadotrophic hypogonadism	HP:0000044
8822	FGF17	Muscle weakness	HP:0001324
8822	FGF17	Cleft palate	HP:0000175
8822	FGF17	Sparse pubic hair	HP:0002225
8822	FGF17	Micropenis	HP:0000054
8822	FGF17	Paraplegia	HP:0010550
8822	FGF17	Delayed puberty	HP:0000823
8822	FGF17	Bimanual synkinesia	HP:0001335
8822	FGF17	Sparse body hair	HP:0002231
8822	FGF17	Tremor	HP:0001337
8822	FGF17	Hyposmia	HP:0004409
8822	FGF17	Non-obstructive azoospermia	HP:0011961
8822	FGF17	Hypertelorism	HP:0000316
8822	FGF17	Delayed skeletal maturation	HP:0002750
8822	FGF17	Anterior hypopituitarism	HP:0000830
8822	FGF17	Dyspareunia	HP:0030016
8822	FGF17	Increased female libido	HP:0030019
8822	FGF17	Recurrent fractures	HP:0002757
8822	FGF17	Eunuchoid habitus	HP:0003782
8822	FGF17	Abnormality of the voice	HP:0001608
8822	FGF17	Generalized joint laxity	HP:0002761
8822	FGF17	Anosmia	HP:0000458
8822	FGF17	Reduced number of teeth	HP:0009804
8822	FGF17	Depressivity	HP:0000716
8822	FGF17	Congenital sensorineural hearing impairment	HP:0008527
8822	FGF17	Wide intermamillary distance	HP:0006610
8822	FGF17	Abnormality of cardiovascular system morphology	HP:0030680
8822	FGF17	Skeletal dysplasia	HP:0002652
8822	FGF17	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
8822	FGF17	Pes cavus	HP:0001761
8822	FGF17	Camptodactyly	HP:0012385
8822	FGF17	Seizures	HP:0001250
8822	FGF17	Ataxia	HP:0001251
8822	FGF17	Pes planus	HP:0001763
8822	FGF17	Anxiety	HP:0000739
8822	FGF17	Muscular hypotonia	HP:0001252
8822	FGF17	Secondary amenorrhea	HP:0000869
8822	FGF17	Renal agenesis	HP:0000104
8822	FGF17	Obesity	HP:0001513
8822	FGF17	Decreased serum testosterone level	HP:0040171
8822	FGF17	Dysarthria	HP:0001260
8822	FGF17	Breast hypoplasia	HP:0003187
8822	FGF17	Visual impairment	HP:0000505
8822	FGF17	Absence of secondary sex characteristics	HP:0008187
8822	FGF17	Ptosis	HP:0000508
8822	FGF17	Reduced bone mineral density	HP:0004349
8822	FGF17	Nystagmus	HP:0000639
8823	FGF16	X-linked recessive inheritance	HP:0001419
8823	FGF16	Fused fourth and fifth metacarpals	HP:0005867
631	BFSP1	Cortical cataract	HP:0100019
631	BFSP1	Lamellar cataract	HP:0007971
631	BFSP1	Nuclear cataract	HP:0100018
631	BFSP1	Autosomal dominant inheritance	HP:0000006
631	BFSP1	Autosomal recessive inheritance	HP:0000007
633	BGN	Pectus carinatum	HP:0000768
633	BGN	Relative macrocephaly	HP:0004482
633	BGN	Brachydactyly	HP:0001156
633	BGN	Proptosis	HP:0000520
633	BGN	X-linked inheritance	HP:0001417
633	BGN	X-linked recessive inheritance	HP:0001419
633	BGN	Long fibula	HP:0003085
633	BGN	Radial deviation of the hand	HP:0009486
633	BGN	Malar flattening	HP:0000272
633	BGN	Long ulna	HP:0003988
633	BGN	Cervical spine instability	HP:0010646
633	BGN	Posterior rib cupping	HP:0000922
633	BGN	Platyspondyly	HP:0000926
633	BGN	Cone-shaped distal radial epiphysis	HP:0004000
633	BGN	Anterior wedging of T12	HP:0011940
633	BGN	Cone-shaped metacarpal epiphyses	HP:0006059
633	BGN	Flared iliac wings	HP:0002869
633	BGN	Short palm	HP:0004279
633	BGN	Hypertelorism	HP:0000316
633	BGN	Delayed ossification of carpal bones	HP:0001216
633	BGN	Bifid uvula	HP:0000193
633	BGN	Short metacarpal	HP:0010049
633	BGN	Disproportionate short-trunk short stature	HP:0003521
633	BGN	Ventriculomegaly	HP:0002119
633	BGN	Hypoplasia of the maxilla	HP:0000327
633	BGN	Pulmonary artery aneurysm	HP:0004937
633	BGN	Cone-shaped epiphyses fused within their metaphyses	HP:0005066
633	BGN	Short phalanx of finger	HP:0009803
633	BGN	Narrow pelvis bone	HP:0003275
633	BGN	Broad metacarpals	HP:0001230
633	BGN	Dilatation of the cerebral artery	HP:0004944
633	BGN	Metaphyseal irregularity	HP:0003025
633	BGN	Short long bone	HP:0003026
633	BGN	Frontal bossing	HP:0002007
633	BGN	Aortic dissection	HP:0002647
633	BGN	Spondyloepimetaphyseal dysplasia	HP:0002651
633	BGN	Joint dislocation	HP:0001373
633	BGN	Anterior wedging of T11	HP:0004573
633	BGN	Camptodactyly	HP:0012385
633	BGN	Limited elbow extension	HP:0001377
633	BGN	Pes planus	HP:0001763
633	BGN	Broad long bone diaphyses	HP:0006371
633	BGN	Joint hypermobility	HP:0001382
633	BGN	Flat acetabular roof	HP:0003180
633	BGN	Short foot	HP:0001773
633	BGN	Downslanted palpebral fissures	HP:0000494
633	BGN	Hypoplasia of the odontoid process	HP:0003311
633	BGN	Coxa valga	HP:0002673
633	BGN	Mitral regurgitation	HP:0001653
633	BGN	Prominent styloid process of ulna	HP:0004981
633	BGN	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
633	BGN	Kyphosis	HP:0002808
633	BGN	Broad phalanx	HP:0006009
633	BGN	Lumbar hyperlordosis	HP:0002938
633	BGN	Short clavicles	HP:0000894
8831	SYNGAP1	Autosomal dominant inheritance	HP:0000006
8831	SYNGAP1	Optic atrophy	HP:0000648
8831	SYNGAP1	Generalized hypotonia	HP:0001290
8831	SYNGAP1	Cerebral atrophy	HP:0002059
8831	SYNGAP1	Unsteady gait	HP:0002317
8831	SYNGAP1	Rigidity	HP:0002063
8831	SYNGAP1	Encephalopathy	HP:0001298
8831	SYNGAP1	Decreased fetal movement	HP:0001558
8831	SYNGAP1	Hypodontia	HP:0000668
8831	SYNGAP1	Abnormal myelination	HP:0012447
8831	SYNGAP1	Language impairment	HP:0002463
8831	SYNGAP1	Retinal degeneration	HP:0000546
8831	SYNGAP1	EEG abnormality	HP:0002353
8831	SYNGAP1	Difficulty walking	HP:0002355
8831	SYNGAP1	Dyskinesia	HP:0100660
8831	SYNGAP1	Myoclonus	HP:0001336
8831	SYNGAP1	Tremor	HP:0001337
8831	SYNGAP1	Feeding difficulties	HP:0011968
8831	SYNGAP1	Epileptic encephalopathy	HP:0200134
8831	SYNGAP1	Developmental regression	HP:0002376
8831	SYNGAP1	Limb hypertonia	HP:0002509
8831	SYNGAP1	Autism	HP:0000717
8831	SYNGAP1	Status epilepticus	HP:0002133
8831	SYNGAP1	Hypsarrhythmia	HP:0002521
8831	SYNGAP1	Autistic behavior	HP:0000729
8831	SYNGAP1	Torticollis	HP:0000473
8831	SYNGAP1	High forehead	HP:0000348
8831	SYNGAP1	EEG with multifocal slow activity	HP:0010844
8831	SYNGAP1	Intellectual disability	HP:0001249
8831	SYNGAP1	Short stature	HP:0004322
8831	SYNGAP1	Seizures	HP:0001250
8831	SYNGAP1	Ataxia	HP:0001251
8831	SYNGAP1	Gastroesophageal reflux	HP:0002020
8831	SYNGAP1	Failure to thrive	HP:0001508
8831	SYNGAP1	Impulsivity	HP:0100710
8831	SYNGAP1	Spasticity	HP:0001257
8831	SYNGAP1	Attention deficit hyperactivity disorder	HP:0007018
8831	SYNGAP1	Downslanted palpebral fissures	HP:0000494
8831	SYNGAP1	Delayed speech and language development	HP:0000750
8831	SYNGAP1	Global developmental delay	HP:0001263
8831	SYNGAP1	Hyporeflexia	HP:0001265
8831	SYNGAP1	Mental deterioration	HP:0001268
8831	SYNGAP1	Poor head control	HP:0002421
8831	SYNGAP1	Motor delay	HP:0001270
8831	SYNGAP1	Abnormality of vision	HP:0000504
8831	SYNGAP1	Abnormal corpus callosum morphology	HP:0001273
8831	SYNGAP1	Microcephaly	HP:0000252
8831	SYNGAP1	Ptosis	HP:0000508
8831	SYNGAP1	Nystagmus	HP:0000639
640	BLK	Diabetes mellitus	HP:0000819
640	BLK	Autosomal dominant inheritance	HP:0000006
640	BLK	Maturity-onset diabetes of the young	HP:0004904
640	BLK	Obesity	HP:0001513
640	BLK	Overweight	HP:0025502
641	BLM	Ichthyosis	HP:0008064
641	BLM	Chronic lung disease	HP:0006528
641	BLM	Syndactyly	HP:0001159
641	BLM	Autosomal recessive inheritance	HP:0000007
641	BLM	Hand polydactyly	HP:0001161
641	BLM	Dolichocephaly	HP:0000268
641	BLM	Malar flattening	HP:0000272
641	BLM	Narrow face	HP:0000275
641	BLM	Abnormality of chromosome stability	HP:0003220
641	BLM	Protruding ear	HP:0000411
641	BLM	Azoospermia	HP:0000027
641	BLM	Cryptorchidism	HP:0000028
641	BLM	Hypopigmented skin patches	HP:0001053
641	BLM	Recurrent respiratory infections	HP:0002205
641	BLM	Erythema	HP:0010783
641	BLM	Decreased circulating IgA level	HP:0002720
641	BLM	Decreased circulating total IgM	HP:0002850
641	BLM	Squamous cell carcinoma	HP:0002860
641	BLM	Hypoplasia of the zygomatic bone	HP:0010669
641	BLM	Specific learning disability	HP:0001328
641	BLM	Agenesis of maxillary lateral incisor	HP:0000690
641	BLM	Acute leukemia	HP:0002488
641	BLM	Cafe-au-lait spot	HP:0000957
641	BLM	Delayed skeletal maturation	HP:0002750
641	BLM	Bronchiectasis	HP:0002110
641	BLM	Sacral dimple	HP:0000960
641	BLM	Prominent nose	HP:0000448
641	BLM	Postnatal growth retardation	HP:0008897
641	BLM	Reduced number of teeth	HP:0009804
641	BLM	Chromosome breakage	HP:0040012
641	BLM	Hyperhidrosis	HP:0000975
641	BLM	Spotty hyperpigmentation	HP:0005585
641	BLM	Neoplasm of the gastrointestinal tract	HP:0007378
641	BLM	High pitched voice	HP:0001620
641	BLM	Finger syndactyly	HP:0006101
641	BLM	Spotty hypopigmentation	HP:0005590
641	BLM	Type II diabetes mellitus	HP:0005978
641	BLM	Decreased circulating IgG level	HP:0004315
641	BLM	Diarrhea	HP:0002014
641	BLM	Facial telangiectasia in butterfly midface distribution	HP:0005598
641	BLM	Cutaneous photosensitivity	HP:0000992
641	BLM	Short stature	HP:0004322
641	BLM	Decreased fertility in females	HP:0000868
641	BLM	Hypertrichosis	HP:0000998
641	BLM	Intrauterine growth retardation	HP:0001511
641	BLM	Intellectual disability, mild	HP:0001256
641	BLM	Lymphoma	HP:0002665
641	BLM	Clinodactyly of the 5th finger	HP:0004209
641	BLM	Leukemia	HP:0001909
641	BLM	Sinusitis	HP:0000246
641	BLM	Short nose	HP:0003196
641	BLM	Microcephaly	HP:0000252
644	BLVRA	Decreased liver function	HP:0001410
644	BLVRA	Green urine	HP:0032003
644	BLVRA	Cholestasis	HP:0001396
644	BLVRA	Autosomal dominant inheritance	HP:0000006
644	BLVRA	Autosomal recessive inheritance	HP:0000007
644	BLVRA	Cholelithiasis	HP:0001081
8838	CCN6	Osteoarthritis	HP:0002758
8838	CCN6	Autosomal recessive inheritance	HP:0000007
8838	CCN6	Metaphyseal widening	HP:0003016
8838	CCN6	Gait disturbance	HP:0001288
8838	CCN6	Camptodactyly of finger	HP:0100490
8838	CCN6	Enlarged metacarpophalangeal joints	HP:0006163
8838	CCN6	Waddling gait	HP:0002515
8838	CCN6	Enlarged epiphyses	HP:0010580
8838	CCN6	Genu varum	HP:0002970
8838	CCN6	Scoliosis	HP:0002650
8838	CCN6	Decreased cervical spine mobility	HP:0004637
8838	CCN6	Platyspondyly	HP:0000926
8838	CCN6	Sclerotic vertebral endplates	HP:0004576
8838	CCN6	Abnormality of the foot	HP:0001760
8838	CCN6	Arthropathy	HP:0003040
8838	CCN6	Methylmalonic acidemia	HP:0002912
8838	CCN6	Short stature	HP:0004322
8838	CCN6	Enlarged interphalangeal joints	HP:0006247
8838	CCN6	Joint swelling	HP:0001386
8838	CCN6	Osteoporosis	HP:0000939
8838	CCN6	Enlargement of the proximal femoral epiphysis	HP:0003371
8838	CCN6	Joint stiffness	HP:0001387
8838	CCN6	Muscle weakness	HP:0001324
8838	CCN6	Difficulty walking	HP:0002355
8838	CCN6	Kyphosis	HP:0002808
8838	CCN6	Coxa vara	HP:0002812
8838	CCN6	Kyphoscoliosis	HP:0002751
8838	CCN6	Flattened epiphysis	HP:0003071
8838	CCN6	Abnormality of the knee	HP:0002815
352909	DNAAF3	Situs inversus totalis	HP:0001696
352909	DNAAF3	Absent inner and outer dynein arms	HP:0012259
352909	DNAAF3	Otitis media	HP:0000388
352909	DNAAF3	Immotile cilia	HP:0012263
352909	DNAAF3	Nasal polyposis	HP:0100582
352909	DNAAF3	Autosomal recessive inheritance	HP:0000007
352909	DNAAF3	Ciliary dyskinesia	HP:0012265
352909	DNAAF3	Hearing impairment	HP:0000365
352909	DNAAF3	Respiratory distress	HP:0002098
352909	DNAAF3	Infertility	HP:0000789
352909	DNAAF3	Sinusitis	HP:0000246
352909	DNAAF3	Congenital onset	HP:0003577
352909	DNAAF3	Recurrent respiratory infections	HP:0002205
352909	DNAAF3	Bronchiectasis	HP:0002110
649	BMP1	Pectus carinatum	HP:0000768
649	BMP1	Umbilical hernia	HP:0001537
649	BMP1	Skeletal muscle atrophy	HP:0003202
649	BMP1	Short stature	HP:0004322
649	BMP1	Decreased body weight	HP:0004325
649	BMP1	Triangular face	HP:0000325
649	BMP1	Joint hypermobility	HP:0001382
649	BMP1	Autosomal recessive inheritance	HP:0000007
649	BMP1	Thin vermilion border	HP:0000233
649	BMP1	Generalized hypotonia	HP:0001290
649	BMP1	Dislocated radial head	HP:0003083
649	BMP1	Osteoporosis	HP:0000939
649	BMP1	Arachnodactyly	HP:0001166
649	BMP1	Long eyelashes	HP:0000527
649	BMP1	Blue sclerae	HP:0000592
649	BMP1	Broad forehead	HP:0000337
649	BMP1	Delayed gross motor development	HP:0002194
649	BMP1	Wormian bones	HP:0002645
649	BMP1	Long philtrum	HP:0000343
649	BMP1	Increased bone mineral density	HP:0011001
649	BMP1	Protruding ear	HP:0000411
649	BMP1	Long palpebral fissure	HP:0000637
649	BMP1	Platyspondyly	HP:0000926
649	BMP1	Kyphoscoliosis	HP:0002751
8842	PROM1	Abnormal electroretinogram	HP:0000512
8842	PROM1	Retinal pigment epithelial mottling	HP:0007814
8842	PROM1	Cataract	HP:0000518
8842	PROM1	Autosomal dominant inheritance	HP:0000006
8842	PROM1	Hypogonadism	HP:0000135
8842	PROM1	Autosomal recessive inheritance	HP:0000007
8842	PROM1	Optic atrophy	HP:0000648
8842	PROM1	Abnormality of visual evoked potentials	HP:0000649
8842	PROM1	Retinal flecks	HP:0012045
8842	PROM1	Conductive hearing impairment	HP:0000405
8842	PROM1	Nyctalopia	HP:0000662
8842	PROM1	Abnormality of retinal pigmentation	HP:0007703
8842	PROM1	Sensorineural hearing impairment	HP:0000407
8842	PROM1	Paroxysmal involuntary eye movements	HP:0007704
8842	PROM1	Hypoplasia of penis	HP:0008736
8842	PROM1	Abnormal testis morphology	HP:0000035
8842	PROM1	Yellow/white lesions of the macula	HP:0030500
8842	PROM1	Cone/cone-rod dystrophy	HP:0000548
8842	PROM1	Perifoveal ring of hyperautofluorescence	HP:0030629
8842	PROM1	Undetectable electroretinogram	HP:0000550
8842	PROM1	Color vision defect	HP:0000551
8842	PROM1	Retinal pigment epithelial atrophy	HP:0007722
8842	PROM1	Wide nasal bridge	HP:0000431
8842	PROM1	Keratoconus	HP:0000563
8842	PROM1	Peripheral visual field loss	HP:0007994
8842	PROM1	Abnormality of macular pigmentation	HP:0008002
8842	PROM1	Hyperreflexia	HP:0001347
8842	PROM1	Hyperinsulinemia	HP:0000842
8842	PROM1	Macular dystrophy	HP:0007754
8842	PROM1	Anteverted nares	HP:0000463
8842	PROM1	Dyschromatopsia	HP:0007641
8842	PROM1	Ophthalmoplegia	HP:0000602
8842	PROM1	Type II diabetes mellitus	HP:0005978
8842	PROM1	Central scotoma	HP:0000603
8842	PROM1	Atypical scarring of skin	HP:0000987
8842	PROM1	Macular degeneration	HP:0000608
8842	PROM1	Intellectual disability	HP:0001249
8842	PROM1	Abnormal choroid morphology	HP:0000610
8842	PROM1	Photophobia	HP:0000613
8842	PROM1	Obesity	HP:0001513
8842	PROM1	Blindness	HP:0000618
8842	PROM1	Abnormal foveal morphology	HP:0000493
8842	PROM1	Abnormal retinal vascular morphology	HP:0008046
8842	PROM1	Reduced visual acuity	HP:0007663
8842	PROM1	Granular macular appearance	HP:0007793
8842	PROM1	Glaucoma	HP:0000501
8842	PROM1	Retinal thinning	HP:0030329
8842	PROM1	Visual impairment	HP:0000505
8842	PROM1	Aplasia/Hypoplasia of the macula	HP:0008059
8842	PROM1	Progressive night blindness	HP:0007675
8842	PROM1	Rod-cone dystrophy	HP:0000510
8842	PROM1	Nystagmus	HP:0000639
650	BMP2	Pectus carinatum	HP:0000768
650	BMP2	Macrocephaly	HP:0000256
650	BMP2	Transposition of the great arteries	HP:0001669
650	BMP2	Autosomal dominant inheritance	HP:0000006
650	BMP2	Thickened helices	HP:0000391
650	BMP2	Malar flattening	HP:0000272
650	BMP2	Conductive hearing impairment	HP:0000405
650	BMP2	Synophrys	HP:0000664
650	BMP2	Midface retrusion	HP:0011800
650	BMP2	Paroxysmal supraventricular tachycardia	HP:0004763
650	BMP2	Type A2 brachydactyly	HP:0009372
650	BMP2	Anterior open bite	HP:0200095
650	BMP2	Hallux valgus	HP:0001822
650	BMP2	Epicanthus	HP:0000286
650	BMP2	Medially deviated second toe	HP:0008096
650	BMP2	Depressed nasal bridge	HP:0005280
650	BMP2	Narrow mouth	HP:0000160
650	BMP2	Perimembranous ventricular septal defect	HP:0011682
650	BMP2	Full cheeks	HP:0000293
650	BMP2	Dental crowding	HP:0000678
650	BMP2	Short toe	HP:0001831
650	BMP2	Broad thumb	HP:0011304
650	BMP2	Wide nasal bridge	HP:0000431
650	BMP2	Wolff-Parkinson-White syndrome	HP:0001716
650	BMP2	Short 2nd metacarpal	HP:0010038
650	BMP2	Sandal gap	HP:0001852
650	BMP2	Hypertelorism	HP:0000316
650	BMP2	Short 5th metacarpal	HP:0010047
650	BMP2	Short 2nd finger	HP:0009536
650	BMP2	Broad hallux	HP:0010055
650	BMP2	Hypoplasia of the maxilla	HP:0000327
650	BMP2	Ventriculomegaly	HP:0002119
650	BMP2	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	HP:0009161
650	BMP2	Pierre-Robin sequence	HP:0000201
650	BMP2	Broad hallux phalanx	HP:0010059
650	BMP2	Anteverted nares	HP:0000463
650	BMP2	Broad forehead	HP:0000337
650	BMP2	2-3 toe syndactyly	HP:0004691
650	BMP2	Narrow forehead	HP:0000341
650	BMP2	Long philtrum	HP:0000343
650	BMP2	High palate	HP:0000218
650	BMP2	Thin upper lip vermilion	HP:0000219
650	BMP2	Triangular shaped middle phalanx of the 5th finger	HP:0009182
650	BMP2	Atrial septal defect	HP:0001631
650	BMP2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	HP:0009568
650	BMP2	Spina bifida occulta	HP:0003298
650	BMP2	Seizures	HP:0001250
650	BMP2	Short stature	HP:0004322
650	BMP2	Muscular hypotonia	HP:0001252
650	BMP2	Posteriorly rotated ears	HP:0000358
650	BMP2	Spondylolisthesis	HP:0003302
650	BMP2	Triangular shaped middle phalanx of the 2nd finger	HP:0009575
650	BMP2	Microtia	HP:0008551
650	BMP2	Everted lower lip vermilion	HP:0000232
650	BMP2	Pulmonic stenosis	HP:0001642
650	BMP2	Short foot	HP:0001773
650	BMP2	11 pairs of ribs	HP:0000878
650	BMP2	Downslanted palpebral fissures	HP:0000494
650	BMP2	Global developmental delay	HP:0001263
650	BMP2	Clinodactyly of the 5th finger	HP:0004209
650	BMP2	Low-set ears	HP:0000369
650	BMP2	Prominent sternum	HP:0000884
650	BMP2	Ulnar deviation of the 2nd finger	HP:0009464
650	BMP2	Radial deviation of the 2nd finger	HP:0009467
650	BMP2	Short middle phalanx of the 5th finger	HP:0004220
650	BMP2	Short nose	HP:0003196
650	BMP2	Short hallux	HP:0010109
650	BMP2	Pectus excavatum	HP:0000767
652	BMP4	Flexion contracture of thumb	HP:0009600
652	BMP4	Brachydactyly	HP:0001156
652	BMP4	Cataract	HP:0000518
652	BMP4	Autosomal dominant inheritance	HP:0000006
652	BMP4	Female hypogonadism	HP:0000134
652	BMP4	Sclerocornea	HP:0000647
652	BMP4	Psychomotor retardation	HP:0025356
652	BMP4	Delayed CNS myelination	HP:0002188
652	BMP4	Anophthalmia	HP:0000528
652	BMP4	Macrotia	HP:0000400
652	BMP4	Malar flattening	HP:0000272
652	BMP4	Retrognathia	HP:0000278
652	BMP4	Proximal placement of thumb	HP:0009623
652	BMP4	Sensorineural hearing impairment	HP:0000407
652	BMP4	Midface retrusion	HP:0011800
652	BMP4	Preaxial hand polydactyly	HP:0001177
652	BMP4	Protruding ear	HP:0000411
652	BMP4	Cryptorchidism	HP:0000028
652	BMP4	Inferior vermis hypoplasia	HP:0007068
652	BMP4	Myopia	HP:0000545
652	BMP4	Postaxial foot polydactyly	HP:0001830
652	BMP4	Cleft lip	HP:0410030
652	BMP4	Cerebellar hypoplasia	HP:0001321
652	BMP4	Small sella turcica	HP:0010538
652	BMP4	Microglossia	HP:0000171
652	BMP4	Retinal dystrophy	HP:0000556
652	BMP4	Severe muscular hypotonia	HP:0006829
652	BMP4	Cleft palate	HP:0000175
652	BMP4	Hypospadias	HP:0000047
652	BMP4	Bifid scrotum	HP:0000048
652	BMP4	Hypothyroidism	HP:0000821
652	BMP4	Uplifted earlobe	HP:0009909
652	BMP4	Micropenis	HP:0000054
652	BMP4	Chorioretinal coloboma	HP:0000567
652	BMP4	Microphthalmia	HP:0000568
652	BMP4	Single transverse palmar crease	HP:0000954
652	BMP4	Short middle phalanx of finger	HP:0005819
652	BMP4	Anterior hypopituitarism	HP:0000830
652	BMP4	Absent speech	HP:0001344
652	BMP4	Bifid uvula	HP:0000193
652	BMP4	Adrenal hypoplasia	HP:0000835
652	BMP4	Small scrotum	HP:0030276
652	BMP4	Facial asymmetry	HP:0000324
652	BMP4	Ventriculomegaly	HP:0002119
652	BMP4	Cerebral cortical atrophy	HP:0002120
652	BMP4	Oral cleft	HP:0000202
652	BMP4	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
652	BMP4	Plagiocephaly	HP:0001357
652	BMP4	Coloboma	HP:0000589
652	BMP4	Finger syndactyly	HP:0006101
652	BMP4	Renal hypoplasia	HP:0000089
652	BMP4	High palate	HP:0000218
652	BMP4	Lambdoidal craniosynostosis	HP:0004443
652	BMP4	Micrognathia	HP:0000347
652	BMP4	High forehead	HP:0000348
652	BMP4	Abnormality of the hypothalamus-pituitary axis	HP:0000864
652	BMP4	Microcornea	HP:0000482
652	BMP4	Seizures	HP:0001250
652	BMP4	Iris coloboma	HP:0000612
652	BMP4	Failure to thrive	HP:0001508
652	BMP4	Muscular hypotonia	HP:0001252
652	BMP4	Polygenic inheritance	HP:0010982
652	BMP4	Posteriorly rotated ears	HP:0000358
652	BMP4	Toe syndactyly	HP:0001770
652	BMP4	Blindness	HP:0000618
652	BMP4	Hearing impairment	HP:0000365
652	BMP4	Global developmental delay	HP:0001263
652	BMP4	Low-set ears	HP:0000369
652	BMP4	Clinodactyly of the 5th finger	HP:0004209
652	BMP4	Nail dysplasia	HP:0002164
652	BMP4	Abnormality of the cervical spine	HP:0003319
652	BMP4	Aplasia of the optic tract	HP:0010999
652	BMP4	Orbital cyst	HP:0001144
652	BMP4	Brachycephaly	HP:0000248
652	BMP4	Agenesis of corpus callosum	HP:0001274
652	BMP4	Microcephaly	HP:0000252
652	BMP4	Nystagmus	HP:0000639
657	BMPR1A	Clubbing	HP:0001217
657	BMPR1A	Hypoalbuminemia	HP:0003073
657	BMPR1A	Failure to thrive	HP:0001508
657	BMPR1A	Autosomal dominant inheritance	HP:0000006
657	BMPR1A	Juvenile colonic polyposis	HP:0012198
657	BMPR1A	Thyroid carcinoma	HP:0002890
657	BMPR1A	Multiple gastric polyps	HP:0004394
657	BMPR1A	Adenomatous colonic polyposis	HP:0005227
657	BMPR1A	Abdominal pain	HP:0002027
657	BMPR1A	Hematochezia	HP:0002573
657	BMPR1A	Anemia	HP:0001903
657	BMPR1A	Intussusception	HP:0002576
657	BMPR1A	Rectal prolapse	HP:0002035
657	BMPR1A	Duodenal adenocarcinoma	HP:0006771
657	BMPR1A	Adenocarcinoma of the colon	HP:0040276
657	BMPR1A	Hypokalemia	HP:0002900
657	BMPR1A	Hyperplastic colonic polyposis	HP:0012183
657	BMPR1A	Colon cancer	HP:0003003
657	BMPR1A	Colorectal polyposis	HP:0200063
658	BMPR1B	Short femoral neck	HP:0100864
658	BMPR1B	Short proximal phalanx of finger	HP:0010241
658	BMPR1B	Aplasia/Hypoplasia of the thumb	HP:0009601
658	BMPR1B	Aplasia of the proximal phalanges of the hand	HP:0010242
658	BMPR1B	Abnormality of the radius	HP:0002818
658	BMPR1B	Brachydactyly	HP:0001156
658	BMPR1B	Autosomal dominant inheritance	HP:0000006
658	BMPR1B	Complete duplication of distal phalanx of the thumb	HP:0009606
658	BMPR1B	Autosomal recessive inheritance	HP:0000007
658	BMPR1B	Postaxial hand polydactyly	HP:0001162
658	BMPR1B	Metatarsus valgus	HP:0010508
658	BMPR1B	Hypoplasia of the uterus	HP:0000013
658	BMPR1B	Primary amenorrhea	HP:0000786
658	BMPR1B	Sarcoma	HP:0100242
658	BMPR1B	Abnormal thumb morphology	HP:0001172
658	BMPR1B	Pseudoepiphyses of the 2nd finger	HP:0009495
658	BMPR1B	Aplasia/Hypoplasia involving the metacarpal bones	HP:0005914
658	BMPR1B	Type A2 brachydactyly	HP:0009372
658	BMPR1B	Type C brachydactyly	HP:0009373
658	BMPR1B	Hallux valgus	HP:0001822
658	BMPR1B	Medially deviated second toe	HP:0008096
658	BMPR1B	Aplasia of the middle phalanges of the toes	HP:0100387
658	BMPR1B	Widened proximal tibial metaphyses	HP:0005028
658	BMPR1B	Short finger	HP:0009381
658	BMPR1B	Short proximal phalanx of thumb	HP:0009638
658	BMPR1B	Short toe	HP:0001831
658	BMPR1B	Micromelia	HP:0002983
658	BMPR1B	Disproportionate short-limb short stature	HP:0008873
658	BMPR1B	Aplasia/Hypoplasia of the 1st metacarpal	HP:0010026
658	BMPR1B	Abnormality of epiphysis morphology	HP:0005930
658	BMPR1B	Symphalangism affecting the phalanges of the hand	HP:0009773
658	BMPR1B	Fibular aplasia	HP:0002990
658	BMPR1B	Bilateral single transverse palmar creases	HP:0007598
658	BMPR1B	Hypergonadotropic hypogonadism	HP:0000815
658	BMPR1B	Tarsal synostosis	HP:0008368
658	BMPR1B	Abnormality of tibia morphology	HP:0002992
658	BMPR1B	Short thumb	HP:0009778
658	BMPR1B	Short distal phalanx of the thumb	HP:0009650
658	BMPR1B	Distal symphalangism of hands	HP:0001204
658	BMPR1B	Abnormality of the ulna	HP:0002997
658	BMPR1B	Short 2nd metacarpal	HP:0010038
658	BMPR1B	Synostosis of carpal bones	HP:0005048
658	BMPR1B	Short middle phalanx of finger	HP:0005819
658	BMPR1B	Narrow nasal bridge	HP:0000446
658	BMPR1B	Short 2nd finger	HP:0009536
658	BMPR1B	Broad hallux	HP:0010055
658	BMPR1B	Abnormality of the hip bone	HP:0003272
658	BMPR1B	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	HP:0009161
658	BMPR1B	Short phalanx of finger	HP:0009803
658	BMPR1B	Hypoplasia of the ulna	HP:0003022
658	BMPR1B	Broad metacarpals	HP:0001230
658	BMPR1B	Abnormal fingernail morphology	HP:0001231
658	BMPR1B	Cone-shaped epiphysis	HP:0010579
658	BMPR1B	2-3 toe syndactyly	HP:0004691
658	BMPR1B	Stippling of the epiphysis of the distal phalanx of the thumb	HP:0009684
658	BMPR1B	Bowing of the long bones	HP:0006487
658	BMPR1B	Scoliosis	HP:0002650
658	BMPR1B	Aplasia/Hypoplasia of the fibula	HP:0006492
658	BMPR1B	Skeletal dysplasia	HP:0002652
658	BMPR1B	Short distal phalanx of the 2nd finger	HP:0009566
658	BMPR1B	Triangular shaped middle phalanx of the 5th finger	HP:0009182
658	BMPR1B	Fibular hypoplasia	HP:0003038
658	BMPR1B	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	HP:0009568
658	BMPR1B	Limitation of joint mobility	HP:0001376
658	BMPR1B	Talipes equinovarus	HP:0001762
658	BMPR1B	Short stature	HP:0004322
658	BMPR1B	Poor motor coordination	HP:0002275
658	BMPR1B	Carpal synostosis	HP:0009702
658	BMPR1B	Triangular shaped middle phalanx of the 2nd finger	HP:0009575
658	BMPR1B	Short tibia	HP:0005736
658	BMPR1B	Broad foot	HP:0001769
658	BMPR1B	Joint stiffness	HP:0001387
658	BMPR1B	Short foot	HP:0001773
658	BMPR1B	Delayed speech and language development	HP:0000750
658	BMPR1B	Clinodactyly of the 5th finger	HP:0004209
658	BMPR1B	Death in infancy	HP:0001522
658	BMPR1B	Short metatarsal	HP:0010743
658	BMPR1B	Ulnar deviation of the 2nd finger	HP:0009464
658	BMPR1B	Ulnar deviation of finger	HP:0009465
658	BMPR1B	Radial deviation of finger	HP:0009466
658	BMPR1B	Radial deviation of the 2nd finger	HP:0009467
658	BMPR1B	Short middle phalanx of the 5th finger	HP:0004220
658	BMPR1B	Short hallux	HP:0010109
659	BMPR2	Elevated jugular venous pressure	HP:0030848
659	BMPR2	Pulmonary aterial intimal fibrosis	HP:0005312
659	BMPR2	Right ventricular hypertrophy	HP:0001667
659	BMPR2	Pulmonary arterial medial hypertrophy	HP:0004964
659	BMPR2	Increased pulmonary vascular resistance	HP:0005317
659	BMPR2	Autosomal dominant inheritance	HP:0000006
659	BMPR2	Pulmonary arterial hypertension	HP:0002092
659	BMPR2	Right ventricular failure	HP:0001708
659	BMPR2	Dyspnea	HP:0002094
659	BMPR2	Elevated right atrial pressure	HP:0005168
659	BMPR2	Telangiectasia	HP:0001009
659	BMPR2	Incomplete penetrance	HP:0003829
659	BMPR2	Pulmonary venous occlusion	HP:0006518
659	BMPR2	Hypertension	HP:0000822
659	BMPR2	Arterial intimal fibrosis	HP:0011353
659	BMPR2	Abnormal thrombosis	HP:0001977
659	BMPR2	Pulmonary artery vasoconstriction	HP:0005308
667	DST	Feeding difficulties	HP:0011968
667	DST	Open mouth	HP:0000194
667	DST	Areflexia	HP:0001284
667	DST	Autosomal recessive inheritance	HP:0000007
667	DST	Alacrima	HP:0000522
667	DST	Short chin	HP:0000331
667	DST	Hyperhidrosis	HP:0000975
667	DST	Nail dystrophy	HP:0008404
667	DST	Limited hip extension	HP:0003093
667	DST	Fever	HP:0001945
667	DST	High palate	HP:0000218
667	DST	Flexion contracture	HP:0001371
667	DST	Talipes equinovarus	HP:0001762
667	DST	Hand clenching	HP:0001188
667	DST	Growth delay	HP:0001510
667	DST	Neonatal hypotonia	HP:0001319
667	DST	Respiratory insufficiency	HP:0002093
667	DST	Corneal scarring	HP:0000559
667	DST	Low-set ears	HP:0000369
667	DST	Tachycardia	HP:0001649
667	DST	Atrophic scars	HP:0001075
667	DST	Apnea	HP:0002104
667	DST	Blotching pigmentation of the skin	HP:0007610
667	DST	Sensory neuropathy	HP:0000763
667	DST	Bradycardia	HP:0001662
668	FOXL2	Depressed nasal bridge	HP:0005280
668	FOXL2	Abnormality of the breast	HP:0000769
668	FOXL2	Microcornea	HP:0000482
668	FOXL2	Increased circulating gonadotropin level	HP:0000837
668	FOXL2	Blepharophimosis	HP:0000581
668	FOXL2	Secondary amenorrhea	HP:0000869
668	FOXL2	Strabismus	HP:0000486
668	FOXL2	Autosomal dominant inheritance	HP:0000006
668	FOXL2	Hypoplasia of the uterus	HP:0000013
668	FOXL2	Amenorrhea	HP:0000141
668	FOXL2	Wide nasal bridge	HP:0000431
668	FOXL2	Premature ovarian insufficiency	HP:0008209
668	FOXL2	Microphthalmia	HP:0000568
668	FOXL2	Epicanthus inversus	HP:0000537
668	FOXL2	High palate	HP:0000218
668	FOXL2	Telecanthus	HP:0000506
668	FOXL2	Cupped ear	HP:0000378
668	FOXL2	Abnormal hair morphology	HP:0001595
668	FOXL2	Hypermetropia	HP:0000540
668	FOXL2	Ptosis	HP:0000508
668	FOXL2	Female infertility	HP:0008222
668	FOXL2	Nystagmus	HP:0000639
669	BPGM	Splenomegaly	HP:0001744
669	BPGM	Abnormality of metabolism/homeostasis	HP:0001939
669	BPGM	Autosomal recessive inheritance	HP:0000007
669	BPGM	Normochromic anemia	HP:0001895
669	BPGM	Jaundice	HP:0000952
669	BPGM	Normocytic anemia	HP:0001897
669	BPGM	Cholelithiasis	HP:0001081
669	BPGM	Cholecystitis	HP:0001082
669	BPGM	Nonspherocytic hemolytic anemia	HP:0001930
669	BPGM	Polycythemia	HP:0001901
8863	PER3	Early chronotype	HP:0031873
8863	PER3	Autosomal dominant inheritance	HP:0000006
8863	PER3	Depressivity	HP:0000716
672	BRCA1	Umbilical hernia	HP:0001537
672	BRCA1	Duodenal stenosis	HP:0100867
672	BRCA1	Ovarian neoplasm	HP:0100615
672	BRCA1	Autosomal dominant inheritance	HP:0000006
672	BRCA1	Cataract	HP:0000518
672	BRCA1	Abnormality of femur morphology	HP:0002823
672	BRCA1	Proptosis	HP:0000520
672	BRCA1	Decreased fertility in males	HP:0012041
672	BRCA1	Recurrent urinary tract infections	HP:0000010
672	BRCA1	Hip dislocation	HP:0002827
672	BRCA1	Dolichocephaly	HP:0000268
672	BRCA1	Tracheoesophageal fistula	HP:0002575
672	BRCA1	Long eyelashes	HP:0000527
672	BRCA1	Abnormality of the fallopian tube	HP:0011027
672	BRCA1	Coarse facial features	HP:0000280
672	BRCA1	Oligohydramnios	HP:0001562
672	BRCA1	Peritonitis	HP:0002586
672	BRCA1	Azoospermia	HP:0000027
672	BRCA1	Cryptorchidism	HP:0000028
672	BRCA1	Hypopigmented skin patches	HP:0001053
672	BRCA1	Epicanthus	HP:0000286
672	BRCA1	Weight loss	HP:0001824
672	BRCA1	Macrodontia	HP:0001572
672	BRCA1	Intestinal pseudo-obstruction	HP:0004389
672	BRCA1	Low anterior hairline	HP:0000294
672	BRCA1	Poor appetite	HP:0004396
672	BRCA1	Melanoma	HP:0002861
672	BRCA1	Bicornuate uterus	HP:0000813
672	BRCA1	Extrahepatic cholestasis	HP:0012334
672	BRCA1	Myelodysplasia	HP:0002863
672	BRCA1	Hypospadias	HP:0000047
672	BRCA1	Diabetes mellitus	HP:0000819
672	BRCA1	Aplasia/Hypoplasia of the uvula	HP:0010293
672	BRCA1	Microphthalmia	HP:0000568
672	BRCA1	Hypertelorism	HP:0000316
672	BRCA1	Hyperreflexia	HP:0001347
672	BRCA1	Facial asymmetry	HP:0000324
672	BRCA1	Pancreatic adenocarcinoma	HP:0006725
672	BRCA1	Blepharophimosis	HP:0000581
672	BRCA1	Upslanted palpebral fissure	HP:0000582
672	BRCA1	Ventriculomegaly	HP:0002119
672	BRCA1	Hydroureter	HP:0000072
672	BRCA1	Neoplasm of the pancreas	HP:0002894
672	BRCA1	Neoplasm of the liver	HP:0002896
672	BRCA1	Thrombocytopenia	HP:0001873
672	BRCA1	Renal insufficiency	HP:0000083
672	BRCA1	Sloping forehead	HP:0000340
672	BRCA1	Back pain	HP:0003418
672	BRCA1	Scoliosis	HP:0002650
672	BRCA1	Leukopenia	HP:0001882
672	BRCA1	Micrognathia	HP:0000347
672	BRCA1	Prostate cancer	HP:0012125
672	BRCA1	Elevated hepatic transaminase	HP:0002910
672	BRCA1	Atrial septal defect	HP:0001631
672	BRCA1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
672	BRCA1	Tetralogy of Fallot	HP:0001636
672	BRCA1	Aplasia/Hypoplasia of the radius	HP:0006501
672	BRCA1	Hypertrophic cardiomyopathy	HP:0001639
672	BRCA1	Neoplasm	HP:0002664
672	BRCA1	Patent ductus arteriosus	HP:0001643
672	BRCA1	Hearing impairment	HP:0000365
672	BRCA1	Abnormal aortic valve morphology	HP:0001646
672	BRCA1	Spina bifida	HP:0002414
672	BRCA1	Abnormality of the liver	HP:0001392
672	BRCA1	Clinodactyly of the 5th finger	HP:0004209
672	BRCA1	Aplasia/Hypoplasia of the iris	HP:0008053
672	BRCA1	Aplasia/Hypoplasia of fingers	HP:0006265
672	BRCA1	External ear malformation	HP:0008572
672	BRCA1	Nystagmus	HP:0000639
672	BRCA1	Functional intestinal obstruction	HP:0005249
672	BRCA1	Clinodactyly	HP:0030084
672	BRCA1	Sparse hair	HP:0008070
672	BRCA1	Hypogonadism	HP:0000135
672	BRCA1	Multiple cafe-au-lait spots	HP:0007565
672	BRCA1	Abnormal aortic morphology	HP:0001679
672	BRCA1	Chronic fatigue	HP:0012432
672	BRCA1	Heterogeneous	HP:0001425
672	BRCA1	Pyridoxine-responsive sideroblastic anemia	HP:0005522
672	BRCA1	Somatic mutation	HP:0001428
672	BRCA1	Abnormality of chromosome stability	HP:0003220
672	BRCA1	Proximal placement of thumb	HP:0009623
672	BRCA1	Hepatosplenomegaly	HP:0001433
672	BRCA1	Clubbing of toes	HP:0100760
672	BRCA1	Lymphadenopathy	HP:0002716
672	BRCA1	Cranial nerve paralysis	HP:0006824
672	BRCA1	Prominent nasal bridge	HP:0000426
672	BRCA1	Cleft palate	HP:0000175
672	BRCA1	Triphalangeal thumb	HP:0001199
672	BRCA1	Dental malocclusion	HP:0000689
672	BRCA1	Jaundice	HP:0000952
672	BRCA1	Breast carcinoma	HP:0003002
672	BRCA1	Colon cancer	HP:0003003
672	BRCA1	Arteriovenous malformation	HP:0100026
672	BRCA1	Narrow palate	HP:0000189
672	BRCA1	Abnormal localization of kidney	HP:0100542
672	BRCA1	Almond-shaped palpebral fissure	HP:0007874
672	BRCA1	Meckel diverticulum	HP:0002245
672	BRCA1	Choanal atresia	HP:0000453
672	BRCA1	Primary peritoneal carcinoma	HP:0030406
672	BRCA1	Abdominal distention	HP:0003270
672	BRCA1	Short palpebral fissure	HP:0012745
672	BRCA1	Exocrine pancreatic insufficiency	HP:0001738
672	BRCA1	Aganglionic megacolon	HP:0002251
672	BRCA1	Intermittent diarrhea	HP:0002254
672	BRCA1	Hypoplasia of the ulna	HP:0003022
672	BRCA1	Anteverted nares	HP:0000463
672	BRCA1	Finger syndactyly	HP:0006101
672	BRCA1	Frontal bossing	HP:0002007
672	BRCA1	Thick upper lip vermilion	HP:0000215
672	BRCA1	High palate	HP:0000218
672	BRCA1	Abnormal carotid artery morphology	HP:0005344
672	BRCA1	Nausea and vomiting	HP:0002017
672	BRCA1	Intellectual disability	HP:0001249
672	BRCA1	Short stature	HP:0004322
672	BRCA1	Pes planus	HP:0001763
672	BRCA1	Astigmatism	HP:0000483
672	BRCA1	Constipation	HP:0002019
672	BRCA1	Failure to thrive	HP:0001508
672	BRCA1	Absent testis	HP:0010469
672	BRCA1	Ovarian carcinoma	HP:0025318
672	BRCA1	Renal hypoplasia/aplasia	HP:0008678
672	BRCA1	Strabismus	HP:0000486
672	BRCA1	Anal atresia	HP:0002023
672	BRCA1	Intrauterine growth retardation	HP:0001511
672	BRCA1	Irregular hyperpigmentation	HP:0007400
672	BRCA1	Toe syndactyly	HP:0001770
672	BRCA1	Abnormality of the preputium	HP:0100587
672	BRCA1	Abdominal pain	HP:0002027
672	BRCA1	Hydrocephalus	HP:0000238
672	BRCA1	Delayed speech and language development	HP:0000750
672	BRCA1	Global developmental delay	HP:0001263
672	BRCA1	Peritoneal abscess	HP:0100592
672	BRCA1	Anorexia	HP:0002039
672	BRCA1	Visual impairment	HP:0000505
672	BRCA1	Microcephaly	HP:0000252
672	BRCA1	Ptosis	HP:0000508
672	BRCA1	Reduced bone mineral density	HP:0004349
8864	PER2	Early chronotype	HP:0031873
8864	PER2	Sleep-wake cycle disturbance	HP:0006979
8864	PER2	Autosomal dominant inheritance	HP:0000006
8864	PER2	Depressivity	HP:0000716
673	BRAF	Autosomal dominant inheritance	HP:0000006
673	BRAF	Autosomal recessive inheritance	HP:0000007
673	BRAF	Proptosis	HP:0000520
673	BRAF	Progressive visual loss	HP:0000529
673	BRAF	Atopic dermatitis	HP:0001047
673	BRAF	Cavernous hemangioma	HP:0001048
673	BRAF	Midface retrusion	HP:0011800
673	BRAF	Polyhydramnios	HP:0001561
673	BRAF	Cryptorchidism	HP:0000028
673	BRAF	Numerous nevi	HP:0001054
673	BRAF	Polyphagia	HP:0002591
673	BRAF	Myopia	HP:0000545
673	BRAF	Atrioventricular canal defect	HP:0006695
673	BRAF	Hypogonadotrophic hypogonadism	HP:0000044
673	BRAF	Redundant skin	HP:0001582
673	BRAF	Deep palmar crease	HP:0006191
673	BRAF	Hypospadias	HP:0000047
673	BRAF	Absent eyelashes	HP:0000561
673	BRAF	Pituitary hypothyroidism	HP:0008245
673	BRAF	Open bite	HP:0010807
673	BRAF	Dilatation	HP:0002617
673	BRAF	Joint hyperflexibility	HP:0005692
673	BRAF	Papilledema	HP:0001085
673	BRAF	Optic nerve dysplasia	HP:0001093
673	BRAF	Cerebral cortical atrophy	HP:0002120
673	BRAF	Abnormality of the voice	HP:0001608
673	BRAF	Cerebral ischemia	HP:0002637
673	BRAF	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
673	BRAF	Premature birth	HP:0001622
673	BRAF	Scoliosis	HP:0002650
673	BRAF	Abnormal platelet function	HP:0011869
673	BRAF	Sudden loss of visual acuity	HP:0001117
673	BRAF	Ventricular septal defect	HP:0001629
673	BRAF	Atrial septal defect	HP:0001631
673	BRAF	Abnormal mitral valve morphology	HP:0001633
673	BRAF	Abnormal hair quantity	HP:0011362
673	BRAF	Mitral valve prolapse	HP:0001634
673	BRAF	Increased susceptibility to fractures	HP:0002659
673	BRAF	Tetralogy of Fallot	HP:0001636
673	BRAF	Hypertrophic cardiomyopathy	HP:0001639
673	BRAF	Neoplasm	HP:0002664
673	BRAF	Abnormal pulmonary valve morphology	HP:0001641
673	BRAF	Pulmonic stenosis	HP:0001642
673	BRAF	Patent ductus arteriosus	HP:0001643
673	BRAF	Scapular winging	HP:0003691
673	BRAF	Abnormal aortic valve morphology	HP:0001646
673	BRAF	Clinodactyly of the 5th finger	HP:0004209
673	BRAF	Low posterior hairline	HP:0002162
673	BRAF	Aplasia of the semicircular canal	HP:0011381
673	BRAF	Abnormal heart valve morphology	HP:0001654
673	BRAF	Myocardial infarction	HP:0001658
673	BRAF	Short nose	HP:0003196
673	BRAF	Long palpebral fissure	HP:0000637
673	BRAF	Hydronephrosis	HP:0000126
673	BRAF	Nystagmus	HP:0000639
673	BRAF	Brachydactyly	HP:0001156
673	BRAF	Hypogonadism	HP:0000135
673	BRAF	Optic atrophy	HP:0000648
673	BRAF	Coarctation of aorta	HP:0001680
673	BRAF	Decreased fertility	HP:0000144
673	BRAF	Oculomotor apraxia	HP:0000657
673	BRAF	High, narrow palate	HP:0002705
673	BRAF	Recurrent infections	HP:0002719
673	BRAF	Depressed nasal bridge	HP:0005280
673	BRAF	Coarse hair	HP:0002208
673	BRAF	Hyperextensibility of the finger joints	HP:0001187
673	BRAF	Underdeveloped supraorbital ridges	HP:0009891
673	BRAF	Curly hair	HP:0002212
673	BRAF	Abnormality of the dentition	HP:0000164
673	BRAF	Hypoplasia of the frontal lobes	HP:0007333
673	BRAF	Fine hair	HP:0002213
673	BRAF	Reduced factor XIII activity	HP:0008357
673	BRAF	Feeding difficulties in infancy	HP:0008872
673	BRAF	Slow-growing hair	HP:0002217
673	BRAF	Absent eyebrow	HP:0002223
673	BRAF	Submucous cleft hard palate	HP:0000176
673	BRAF	Dental malocclusion	HP:0000689
673	BRAF	Thick lower lip vermilion	HP:0000179
673	BRAF	Male infertility	HP:0003251
673	BRAF	Anterior creases of earlobe	HP:0009908
673	BRAF	Abnormality of the nasal bone	HP:0010939
673	BRAF	Cognitive impairment	HP:0100543
673	BRAF	Delayed skeletal maturation	HP:0002750
673	BRAF	Kyphoscoliosis	HP:0002751
673	BRAF	Abnormal localization of kidney	HP:0100542
673	BRAF	Hepatomegaly	HP:0002240
673	BRAF	Postnatal growth retardation	HP:0008897
673	BRAF	Open mouth	HP:0000194
673	BRAF	Dystrophic fingernails	HP:0008391
673	BRAF	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
673	BRAF	Abnormality of the spleen	HP:0001743
673	BRAF	Splenomegaly	HP:0001744
673	BRAF	Abnormal endocardium morphology	HP:0004306
673	BRAF	Enlarged pituitary gland	HP:0012505
673	BRAF	High palate	HP:0000218
673	BRAF	Excessive wrinkled skin	HP:0007392
673	BRAF	Intellectual disability	HP:0001249
673	BRAF	Short stature	HP:0004322
673	BRAF	Seizures	HP:0001250
673	BRAF	Spina bifida occulta	HP:0003298
673	BRAF	Muscular hypotonia	HP:0001252
673	BRAF	Intellectual disability, mild	HP:0001256
673	BRAF	Reduced factor XII activity	HP:0004841
673	BRAF	Coma	HP:0001259
673	BRAF	Dysarthria	HP:0001260
673	BRAF	Osteolysis	HP:0002797
673	BRAF	Hydrocephalus	HP:0000238
673	BRAF	Excessive daytime somnolence	HP:0001262
673	BRAF	Global developmental delay	HP:0001263
673	BRAF	Slow decrease in visual acuity	HP:0007924
673	BRAF	Brachycephaly	HP:0000248
673	BRAF	Radial deviation of finger	HP:0009466
673	BRAF	Brittle hair	HP:0002299
673	BRAF	Amegakaryocytic thrombocytopenia	HP:0004859
673	BRAF	Hypertonia	HP:0001276
673	BRAF	Pectus excavatum	HP:0000767
673	BRAF	Pectus carinatum	HP:0000768
673	BRAF	Macrocephaly	HP:0000256
673	BRAF	Generalized hypotonia	HP:0001290
673	BRAF	Headache	HP:0002315
673	BRAF	Dolichocephaly	HP:0000268
673	BRAF	Enlarged thorax	HP:0100625
673	BRAF	Generalized hyperpigmentation	HP:0007440
673	BRAF	Vertigo	HP:0002321
673	BRAF	Long face	HP:0000276
673	BRAF	Coarse facial features	HP:0000280
673	BRAF	Epicanthus	HP:0000286
673	BRAF	Full cheeks	HP:0000293
673	BRAF	Neonatal hypotonia	HP:0001319
673	BRAF	Sleep apnea	HP:0010535
673	BRAF	Genu valgum	HP:0002857
673	BRAF	Muscle weakness	HP:0001324
673	BRAF	Melanoma	HP:0002861
673	BRAF	Myelodysplasia	HP:0002863
673	BRAF	EEG abnormality	HP:0002353
673	BRAF	Progressive visual field defects	HP:0007987
673	BRAF	Abnormal dermatoglyphics	HP:0007477
673	BRAF	Delayed puberty	HP:0000823
673	BRAF	Bitemporal hemianopia	HP:0030521
673	BRAF	Hypertelorism	HP:0000316
673	BRAF	Abnormality of the pulmonary artery	HP:0004414
673	BRAF	Pulmonary artery stenosis	HP:0004415
673	BRAF	Triangular face	HP:0000325
673	BRAF	Biparietal narrowing	HP:0004422
673	BRAF	Intracranial cystic lesion	HP:0010576
673	BRAF	Narrow forehead	HP:0000341
673	BRAF	Long philtrum	HP:0000343
673	BRAF	Neurofibrosarcoma	HP:0100697
673	BRAF	Type II diabetes mellitus	HP:0005978
673	BRAF	Micrognathia	HP:0000347
673	BRAF	High forehead	HP:0000348
673	BRAF	Tongue thrusting	HP:0100703
673	BRAF	Central diabetes insipidus	HP:0000863
673	BRAF	Papule	HP:0200034
673	BRAF	Abnormal bleeding	HP:0001892
673	BRAF	Posteriorly rotated ears	HP:0000358
673	BRAF	Prolactin excess	HP:0000870
673	BRAF	Skin nodule	HP:0200036
673	BRAF	Hearing impairment	HP:0000365
673	BRAF	Low-set, posteriorly rotated ears	HP:0000368
673	BRAF	Low-set ears	HP:0000369
673	BRAF	Alveolar cell carcinoma	HP:0006519
673	BRAF	Bronchogenic cyst	HP:0100730
673	BRAF	Abnormal visual field test	HP:0030588
673	BRAF	Ichthyosis	HP:0008064
673	BRAF	Relative macrocephaly	HP:0004482
673	BRAF	Clinodactyly	HP:0030084
673	BRAF	Sparse hair	HP:0008070
673	BRAF	Thickened helices	HP:0000391
673	BRAF	Abnormality of coagulation	HP:0001928
673	BRAF	Multiple cafe-au-lait spots	HP:0007565
673	BRAF	Macrotia	HP:0000400
673	BRAF	Sprengel anomaly	HP:0000912
673	BRAF	Heterogeneous	HP:0001425
673	BRAF	Shield chest	HP:0000914
673	BRAF	Pectus excavatum of inferior sternum	HP:0000915
673	BRAF	Somatic mutation	HP:0001428
673	BRAF	Peripheral axonal neuropathy	HP:0003477
673	BRAF	Superior pectus carinatum	HP:0000917
673	BRAF	Sensorineural hearing impairment	HP:0000407
673	BRAF	Cubitus valgus	HP:0002967
673	BRAF	Keratosis pilaris	HP:0032152
673	BRAF	Arrhythmia	HP:0011675
673	BRAF	Abnormality of the vertebral column	HP:0000925
673	BRAF	Bulbous nose	HP:0000414
673	BRAF	Radioulnar synostosis	HP:0002974
673	BRAF	Synovitis	HP:0100769
673	BRAF	Sparse or absent eyelashes	HP:0200102
673	BRAF	Osteopenia	HP:0000938
673	BRAF	Hypoplasia of the zygomatic bone	HP:0010669
673	BRAF	Functional abnormality of the gastrointestinal tract	HP:0012719
673	BRAF	Wide nasal bridge	HP:0000431
673	BRAF	Multiple plantar creases	HP:0008113
673	BRAF	Severe sensorineural hearing impairment	HP:0008625
673	BRAF	Proportionate short stature	HP:0003508
673	BRAF	Abnormality of the ulna	HP:0002997
673	BRAF	Abnormality of the frontal bone	HP:0430000
673	BRAF	Hyperpigmentation of the skin	HP:0000953
673	BRAF	Dry skin	HP:0000958
673	BRAF	Neuroblastoma	HP:0003006
673	BRAF	Bundle branch block	HP:0011710
673	BRAF	Hyperkeratosis	HP:0000962
673	BRAF	Freckling	HP:0001480
673	BRAF	Subcutaneous nodule	HP:0001482
673	BRAF	Hyperextensible skin	HP:0000974
673	BRAF	Anteverted nares	HP:0000463
673	BRAF	Webbed neck	HP:0000465
673	BRAF	Deep philtrum	HP:0002002
673	BRAF	Wide intermamillary distance	HP:0006610
673	BRAF	Cerebral calcification	HP:0002514
673	BRAF	Prominent forehead	HP:0011220
673	BRAF	Increased intracranial pressure	HP:0002516
673	BRAF	Short neck	HP:0000470
673	BRAF	Palmoplantar keratoderma	HP:0000982
673	BRAF	Central adrenal insufficiency	HP:0011734
673	BRAF	Frontal bossing	HP:0002007
673	BRAF	Thickened nuchal skin fold	HP:0000474
673	BRAF	Cystic hygroma	HP:0000476
673	BRAF	Vomiting	HP:0002013
673	BRAF	Dysphagia	HP:0002015
673	BRAF	Nausea and vomiting	HP:0002017
673	BRAF	Multiple palmar creases	HP:0006114
673	BRAF	Constipation	HP:0002019
673	BRAF	Melanocytic nevus	HP:0000995
673	BRAF	Failure to thrive	HP:0001508
673	BRAF	Gastroesophageal reflux	HP:0002020
673	BRAF	Strabismus	HP:0000486
673	BRAF	Neoplasm of the anterior pituitary	HP:0011750
673	BRAF	Intrauterine growth retardation	HP:0001511
673	BRAF	Retinopathy	HP:0000488
673	BRAF	Aplasia/Hypoplasia of the eyebrow	HP:0100840
673	BRAF	Obesity	HP:0001513
673	BRAF	Multiple lentigines	HP:0001003
673	BRAF	Lymphedema	HP:0001004
673	BRAF	Downslanted palpebral fissures	HP:0000494
673	BRAF	Poor suck	HP:0002033
673	BRAF	Hypomelanotic macule	HP:0009719
673	BRAF	Abnormality of vision	HP:0000504
673	BRAF	Congenital onset	HP:0003577
673	BRAF	Failure to thrive in infancy	HP:0001531
673	BRAF	Ptosis	HP:0000508
673	BRAF	Abnormal hypothalamus morphology	HP:0012286
675	BRCA2	Umbilical hernia	HP:0001537
675	BRCA2	Duodenal stenosis	HP:0100867
675	BRCA2	Ovarian neoplasm	HP:0100615
675	BRCA2	Autosomal dominant inheritance	HP:0000006
675	BRCA2	Cataract	HP:0000518
675	BRCA2	Autosomal recessive inheritance	HP:0000007
675	BRCA2	Abnormality of femur morphology	HP:0002823
675	BRCA2	Proptosis	HP:0000520
675	BRCA2	Decreased fertility in males	HP:0012041
675	BRCA2	Recurrent urinary tract infections	HP:0000010
675	BRCA2	Hip dislocation	HP:0002827
675	BRCA2	Dolichocephaly	HP:0000268
675	BRCA2	Aniridia	HP:0000526
675	BRCA2	Tracheoesophageal fistula	HP:0002575
675	BRCA2	Abnormality of the fallopian tube	HP:0011027
675	BRCA2	Hematuria	HP:0000790
675	BRCA2	Oligohydramnios	HP:0001562
675	BRCA2	Azoospermia	HP:0000027
675	BRCA2	Cryptorchidism	HP:0000028
675	BRCA2	Hypopigmented skin patches	HP:0001053
675	BRCA2	Epicanthus	HP:0000286
675	BRCA2	Weight loss	HP:0001824
675	BRCA2	Intestinal pseudo-obstruction	HP:0004389
675	BRCA2	Poor appetite	HP:0004396
675	BRCA2	Melanoma	HP:0002861
675	BRCA2	Bicornuate uterus	HP:0000813
675	BRCA2	Extrahepatic cholestasis	HP:0012334
675	BRCA2	Myelodysplasia	HP:0002863
675	BRCA2	Hypospadias	HP:0000047
675	BRCA2	Short thumb	HP:0009778
675	BRCA2	Diabetes mellitus	HP:0000819
675	BRCA2	Aplasia/Hypoplasia of the uvula	HP:0010293
675	BRCA2	Hypertension	HP:0000822
675	BRCA2	Microphthalmia	HP:0000568
675	BRCA2	Hypertelorism	HP:0000316
675	BRCA2	Hyperreflexia	HP:0001347
675	BRCA2	Facial asymmetry	HP:0000324
675	BRCA2	Pancreatic adenocarcinoma	HP:0006725
675	BRCA2	Upslanted palpebral fissure	HP:0000582
675	BRCA2	T-cell acute lymphoblastic leukemias	HP:0006727
675	BRCA2	Ventriculomegaly	HP:0002119
675	BRCA2	Hydroureter	HP:0000072
675	BRCA2	Neoplasm of the pancreas	HP:0002894
675	BRCA2	Neoplasm of the liver	HP:0002896
675	BRCA2	Thrombocytopenia	HP:0001873
675	BRCA2	Renal insufficiency	HP:0000083
675	BRCA2	Sloping forehead	HP:0000340
675	BRCA2	Back pain	HP:0003418
675	BRCA2	Scoliosis	HP:0002650
675	BRCA2	Leukopenia	HP:0001882
675	BRCA2	Micrognathia	HP:0000347
675	BRCA2	Prostate cancer	HP:0012125
675	BRCA2	Elevated hepatic transaminase	HP:0002910
675	BRCA2	Atrial septal defect	HP:0001631
675	BRCA2	Abnormality of the hypothalamus-pituitary axis	HP:0000864
675	BRCA2	Tetralogy of Fallot	HP:0001636
675	BRCA2	Aplasia/Hypoplasia of the radius	HP:0006501
675	BRCA2	Hypertrophic cardiomyopathy	HP:0001639
675	BRCA2	Nephroblastoma	HP:0002667
675	BRCA2	Patent ductus arteriosus	HP:0001643
675	BRCA2	Hearing impairment	HP:0000365
675	BRCA2	Abnormal aortic valve morphology	HP:0001646
675	BRCA2	Spina bifida	HP:0002414
675	BRCA2	Abnormality of the liver	HP:0001392
675	BRCA2	Clinodactyly of the 5th finger	HP:0004209
675	BRCA2	Aplasia/Hypoplasia of the iris	HP:0008053
675	BRCA2	Aplasia/Hypoplasia of fingers	HP:0006265
675	BRCA2	External ear malformation	HP:0008572
675	BRCA2	Nystagmus	HP:0000639
675	BRCA2	Functional intestinal obstruction	HP:0005249
675	BRCA2	Hypogonadism	HP:0000135
675	BRCA2	Multiple cafe-au-lait spots	HP:0007565
675	BRCA2	Abnormal aortic morphology	HP:0001679
675	BRCA2	Chronic fatigue	HP:0012432
675	BRCA2	Heterogeneous	HP:0001425
675	BRCA2	Pyridoxine-responsive sideroblastic anemia	HP:0005522
675	BRCA2	Somatic mutation	HP:0001428
675	BRCA2	Abnormality of chromosome stability	HP:0003220
675	BRCA2	Chromosomal breakage induced by crosslinking agents	HP:0003221
675	BRCA2	Bone marrow hypocellularity	HP:0005528
675	BRCA2	Hepatosplenomegaly	HP:0001433
675	BRCA2	Clubbing of toes	HP:0100760
675	BRCA2	Fever	HP:0001945
675	BRCA2	Lymphadenopathy	HP:0002716
675	BRCA2	Cranial nerve paralysis	HP:0006824
675	BRCA2	Cleft palate	HP:0000175
675	BRCA2	Triphalangeal thumb	HP:0001199
675	BRCA2	Neoplasm of the lung	HP:0100526
675	BRCA2	Jaundice	HP:0000952
675	BRCA2	Breast carcinoma	HP:0003002
675	BRCA2	Colon cancer	HP:0003003
675	BRCA2	Arteriovenous malformation	HP:0100026
675	BRCA2	Cafe-au-lait spot	HP:0000957
675	BRCA2	Abnormal localization of kidney	HP:0100542
675	BRCA2	Almond-shaped palpebral fissure	HP:0007874
675	BRCA2	Meckel diverticulum	HP:0002245
675	BRCA2	Choanal atresia	HP:0000453
675	BRCA2	Primary peritoneal carcinoma	HP:0030406
675	BRCA2	Acute myeloid leukemia	HP:0004808
675	BRCA2	Short palpebral fissure	HP:0012745
675	BRCA2	Exocrine pancreatic insufficiency	HP:0001738
675	BRCA2	Aganglionic megacolon	HP:0002251
675	BRCA2	Intermittent diarrhea	HP:0002254
675	BRCA2	Hypoplasia of the ulna	HP:0003022
675	BRCA2	Finger syndactyly	HP:0006101
675	BRCA2	Frontal bossing	HP:0002007
675	BRCA2	High palate	HP:0000218
675	BRCA2	Abnormal carotid artery morphology	HP:0005344
675	BRCA2	Nausea and vomiting	HP:0002017
675	BRCA2	Intellectual disability	HP:0001249
675	BRCA2	Short stature	HP:0004322
675	BRCA2	Pes planus	HP:0001763
675	BRCA2	Astigmatism	HP:0000483
675	BRCA2	Failure to thrive	HP:0001508
675	BRCA2	Absent testis	HP:0010469
675	BRCA2	Ovarian carcinoma	HP:0025318
675	BRCA2	Renal hypoplasia/aplasia	HP:0008678
675	BRCA2	Strabismus	HP:0000486
675	BRCA2	Intrauterine growth retardation	HP:0001511
675	BRCA2	Anal atresia	HP:0002023
675	BRCA2	Irregular hyperpigmentation	HP:0007400
675	BRCA2	Toe syndactyly	HP:0001770
675	BRCA2	Abnormality of the preputium	HP:0100587
675	BRCA2	Abdominal pain	HP:0002027
675	BRCA2	Hydrocephalus	HP:0000238
675	BRCA2	Global developmental delay	HP:0001263
675	BRCA2	Peritoneal abscess	HP:0100592
675	BRCA2	Anorexia	HP:0002039
675	BRCA2	Visual impairment	HP:0000505
675	BRCA2	Microcephaly	HP:0000252
675	BRCA2	Ptosis	HP:0000508
675	BRCA2	Reduced bone mineral density	HP:0004349
8867	SYNJ1	Akinesia	HP:0002304
8867	SYNJ1	Autosomal recessive inheritance	HP:0000007
8867	SYNJ1	Optic atrophy	HP:0000648
8867	SYNJ1	Leg muscle stiffness	HP:0008969
8867	SYNJ1	Generalized hypotonia	HP:0001290
8867	SYNJ1	Cerebral atrophy	HP:0002059
8867	SYNJ1	Intellectual disability, profound	HP:0002187
8867	SYNJ1	Unsteady gait	HP:0002317
8867	SYNJ1	Rigidity	HP:0002063
8867	SYNJ1	Short stepped shuffling gait	HP:0007311
8867	SYNJ1	Encephalopathy	HP:0001298
8867	SYNJ1	Eyelid apraxia	HP:0000658
8867	SYNJ1	Gait ataxia	HP:0002066
8867	SYNJ1	Resting tremor	HP:0002322
8867	SYNJ1	Bradykinesia	HP:0002067
8867	SYNJ1	Parkinsonism	HP:0001300
8867	SYNJ1	Decreased fetal movement	HP:0001558
8867	SYNJ1	Hypodontia	HP:0000668
8867	SYNJ1	Brain atrophy	HP:0012444
8867	SYNJ1	Abnormal myelination	HP:0012447
8867	SYNJ1	Hypoplasia of the corpus callosum	HP:0002079
8867	SYNJ1	Retinal degeneration	HP:0000546
8867	SYNJ1	Elevated serum creatine kinase	HP:0003236
8867	SYNJ1	Progressive neurologic deterioration	HP:0002344
8867	SYNJ1	Difficulty walking	HP:0002355
8867	SYNJ1	Dystonia	HP:0001332
8867	SYNJ1	Dyskinesia	HP:0100660
8867	SYNJ1	Myoclonus	HP:0001336
8867	SYNJ1	Tremor	HP:0001337
8867	SYNJ1	Staring gaze	HP:0025401
8867	SYNJ1	Shuffling gait	HP:0002362
8867	SYNJ1	Feeding difficulties	HP:0011968
8867	SYNJ1	Epileptic encephalopathy	HP:0200134
8867	SYNJ1	Developmental regression	HP:0002376
8867	SYNJ1	Limb hypertonia	HP:0002509
8867	SYNJ1	Autism	HP:0000717
8867	SYNJ1	Spastic tetraplegia	HP:0002510
8867	SYNJ1	Hypomimic face	HP:0000338
8867	SYNJ1	Status epilepticus	HP:0002133
8867	SYNJ1	Weak voice	HP:0001621
8867	SYNJ1	Abnormal pyramidal sign	HP:0007256
8867	SYNJ1	Hypsarrhythmia	HP:0002521
8867	SYNJ1	Scoliosis	HP:0002650
8867	SYNJ1	Fatigue	HP:0012378
8867	SYNJ1	High forehead	HP:0000348
8867	SYNJ1	EEG with multifocal slow activity	HP:0010844
8867	SYNJ1	Progressive	HP:0003676
8867	SYNJ1	Supranuclear gaze palsy	HP:0000605
8867	SYNJ1	Intellectual disability	HP:0001249
8867	SYNJ1	Pes cavus	HP:0001761
8867	SYNJ1	Short stature	HP:0004322
8867	SYNJ1	Seizures	HP:0001250
8867	SYNJ1	Ataxia	HP:0001251
8867	SYNJ1	Gastroesophageal reflux	HP:0002020
8867	SYNJ1	Failure to thrive	HP:0001508
8867	SYNJ1	Impulsivity	HP:0100710
8867	SYNJ1	Increased serum lactate	HP:0002151
8867	SYNJ1	Spasticity	HP:0001257
8867	SYNJ1	Attention deficit hyperactivity disorder	HP:0007018
8867	SYNJ1	Dysarthria	HP:0001260
8867	SYNJ1	Inability to walk	HP:0002540
8867	SYNJ1	Downslanted palpebral fissures	HP:0000494
8867	SYNJ1	Delayed speech and language development	HP:0000750
8867	SYNJ1	Global developmental delay	HP:0001263
8867	SYNJ1	Hyporeflexia	HP:0001265
8867	SYNJ1	Mental deterioration	HP:0001268
8867	SYNJ1	Poor head control	HP:0002421
8867	SYNJ1	Abnormality of vision	HP:0000504
8867	SYNJ1	Abnormal corpus callosum morphology	HP:0001273
8867	SYNJ1	Visual impairment	HP:0000505
8867	SYNJ1	Anarthria	HP:0002425
8867	SYNJ1	Microcephaly	HP:0000252
8867	SYNJ1	Ptosis	HP:0000508
8867	SYNJ1	Postural instability	HP:0002172
8867	SYNJ1	Slowed slurred speech	HP:0007164
8867	SYNJ1	Nystagmus	HP:0000639
676	BRDT	Infertility	HP:0000789
676	BRDT	Acephalic spermatozoa	HP:0012869
676	BRDT	Reduced sperm motility	HP:0012207
8869	ST3GAL5	Feeding difficulties	HP:0011968
8869	ST3GAL5	Absent speech	HP:0001344
8869	ST3GAL5	Incoordination	HP:0002311
8869	ST3GAL5	Autosomal recessive inheritance	HP:0000007
8869	ST3GAL5	Developmental regression	HP:0002376
8869	ST3GAL5	Optic atrophy	HP:0000648
8869	ST3GAL5	Generalized hypotonia	HP:0001290
8869	ST3GAL5	Hypermelanotic macule	HP:0001034
8869	ST3GAL5	Functional motor deficit	HP:0004302
8869	ST3GAL5	Hyperpigmented/hypopigmented macules	HP:0007441
8869	ST3GAL5	Generalized tonic-clonic seizures	HP:0002069
8869	ST3GAL5	Status epilepticus	HP:0002133
8869	ST3GAL5	Sensorineural hearing impairment	HP:0000407
8869	ST3GAL5	Multifocal epileptiform discharges	HP:0010841
8869	ST3GAL5	Myoclonic spasms	HP:0003739
8869	ST3GAL5	Lower limb hyperreflexia	HP:0002395
8869	ST3GAL5	Vomiting	HP:0002013
8869	ST3GAL5	Tetraparesis	HP:0002273
8869	ST3GAL5	Irritability	HP:0000737
8869	ST3GAL5	Cerebral visual impairment	HP:0100704
8869	ST3GAL5	Ataxia	HP:0001251
8869	ST3GAL5	Failure to thrive	HP:0001508
8869	ST3GAL5	Muscular hypotonia	HP:0001252
8869	ST3GAL5	Hyporeflexia of upper limbs	HP:0012391
8869	ST3GAL5	Increased serum lactate	HP:0002151
8869	ST3GAL5	Feeding difficulties in infancy	HP:0008872
8869	ST3GAL5	Hyperintensity of cerebral white matter on MRI	HP:0030890
8869	ST3GAL5	Global brain atrophy	HP:0002283
8869	ST3GAL5	Hearing impairment	HP:0000365
8869	ST3GAL5	Global developmental delay	HP:0001263
8869	ST3GAL5	Intellectual disability, severe	HP:0010864
8869	ST3GAL5	Poor eye contact	HP:0000817
8869	ST3GAL5	Choreoathetosis	HP:0001266
8869	ST3GAL5	Developmental stagnation at onset of seizures	HP:0006834
8869	ST3GAL5	Cerebral palsy	HP:0100021
8869	ST3GAL5	Macular hyperpigmented dermopathy	HP:0007412
8869	ST3GAL5	Slow decrease in visual acuity	HP:0007924
8869	ST3GAL5	Dyskinesia	HP:0100660
8869	ST3GAL5	Myoclonus	HP:0001336
8869	ST3GAL5	Tremor	HP:0001337
8869	ST3GAL5	Microcephaly	HP:0000252
8869	ST3GAL5	Visual loss	HP:0000572
686	BTD	Hepatomegaly	HP:0002240
686	BTD	Hyperammonemia	HP:0001987
686	BTD	Hyperventilation	HP:0002883
686	BTD	Autosomal recessive inheritance	HP:0000007
686	BTD	Organic aciduria	HP:0001992
686	BTD	Optic atrophy	HP:0000648
686	BTD	Keratoconjunctivitis	HP:0001096
686	BTD	Generalized hypotonia	HP:0001290
686	BTD	Diffuse cerebral atrophy	HP:0002506
686	BTD	Generalized myoclonic seizures	HP:0002123
686	BTD	Splenomegaly	HP:0001744
686	BTD	Sensorineural hearing impairment	HP:0000407
686	BTD	Recurrent fungal infections	HP:0002841
686	BTD	Seborrheic dermatitis	HP:0001051
686	BTD	Metabolic ketoacidosis	HP:0005979
686	BTD	Skin rash	HP:0000988
686	BTD	Vomiting	HP:0002013
686	BTD	Diarrhea	HP:0002014
686	BTD	Myopia	HP:0000545
686	BTD	Seizures	HP:0001250
686	BTD	Ataxia	HP:0001251
686	BTD	Visual field defect	HP:0001123
686	BTD	Muscular hypotonia	HP:0001252
686	BTD	Tachypnea	HP:0002789
686	BTD	Abnormal cerebellum morphology	HP:0001317
686	BTD	Lethargy	HP:0001254
686	BTD	Growth delay	HP:0001510
686	BTD	Decreased biotinidase activity	HP:0410145
686	BTD	Feeding difficulties in infancy	HP:0008872
686	BTD	Coma	HP:0001259
686	BTD	Muscle weakness	HP:0001324
686	BTD	Recurrent skin infections	HP:0001581
686	BTD	Hearing impairment	HP:0000365
686	BTD	Global developmental delay	HP:0001263
686	BTD	Laryngeal stridor	HP:0006511
686	BTD	Diffuse cerebellar atrophy	HP:0100275
686	BTD	Iris hypopigmentation	HP:0007730
686	BTD	Perioral eczema	HP:0011127
686	BTD	Apnea	HP:0002104
686	BTD	Alopecia	HP:0001596
686	BTD	Visual loss	HP:0000572
686	BTD	Hypertonia	HP:0001276
686	BTD	Conjunctivitis	HP:0000509
686	BTD	Desquamation of skin soon after birth	HP:0007549
8878	SQSTM1	Bulbar palsy	HP:0001283
8878	SQSTM1	Collectionism	HP:0030212
8878	SQSTM1	Emotional blunting	HP:0030213
8878	SQSTM1	Autosomal dominant inheritance	HP:0000006
8878	SQSTM1	Autosomal recessive inheritance	HP:0000007
8878	SQSTM1	Gait disturbance	HP:0001288
8878	SQSTM1	Degeneration of the lateral corticospinal tracts	HP:0002314
8878	SQSTM1	Fractures of the long bones	HP:0003084
8878	SQSTM1	Perseveration	HP:0030223
8878	SQSTM1	Gait ataxia	HP:0002066
8878	SQSTM1	Urinary incontinence	HP:0000020
8878	SQSTM1	Parkinsonism	HP:0001300
8878	SQSTM1	Generalized tonic-clonic seizures	HP:0002069
8878	SQSTM1	Limb ataxia	HP:0002070
8878	SQSTM1	Neuronal loss in the cerebral cortex	HP:0007190
8878	SQSTM1	Abnormality of extrapyramidal motor function	HP:0002071
8878	SQSTM1	Progressive cerebellar ataxia	HP:0002073
8878	SQSTM1	Dyslexia	HP:0010522
8878	SQSTM1	Dysdiadochokinesis	HP:0002075
8878	SQSTM1	Dysgraphia	HP:0010526
8878	SQSTM1	Dysmetria	HP:0001310
8878	SQSTM1	Echolalia	HP:0010529
8878	SQSTM1	Dyspnea	HP:0002094
8878	SQSTM1	Steppage gait	HP:0003376
8878	SQSTM1	Memory impairment	HP:0002354
8878	SQSTM1	Dystonia	HP:0001332
8878	SQSTM1	Dysphasia	HP:0002357
8878	SQSTM1	Patchy osteosclerosis	HP:0005686
8878	SQSTM1	Tremor	HP:0001337
8878	SQSTM1	Respiratory failure	HP:0002878
8878	SQSTM1	Abnormal lower motor neuron morphology	HP:0002366
8878	SQSTM1	Muscle spasm	HP:0003394
8878	SQSTM1	Loss of speech	HP:0002371
8878	SQSTM1	Hyperreflexia	HP:0001347
8878	SQSTM1	Foot dorsiflexor weakness	HP:0009027
8878	SQSTM1	Cerebral cortical atrophy	HP:0002120
8878	SQSTM1	Fasciculations	HP:0002380
8878	SQSTM1	Abnormal upper motor neuron morphology	HP:0002127
8878	SQSTM1	Laryngospasm	HP:0025425
8878	SQSTM1	Paraparesis	HP:0002385
8878	SQSTM1	Elevated alkaline phosphatase	HP:0003155
8878	SQSTM1	Abnormal pyramidal sign	HP:0007256
8878	SQSTM1	Fatigue	HP:0012378
8878	SQSTM1	Progressive	HP:0003676
8878	SQSTM1	Bone pain	HP:0002653
8878	SQSTM1	Supranuclear gaze palsy	HP:0000605
8878	SQSTM1	Frontotemporal dementia	HP:0002145
8878	SQSTM1	Scapular winging	HP:0003691
8878	SQSTM1	Osteosarcoma	HP:0002669
8878	SQSTM1	Hearing impairment	HP:0000365
8878	SQSTM1	Absent Achilles reflex	HP:0003438
8878	SQSTM1	Abnormal brain FDG positron emission tomography	HP:0012658
8878	SQSTM1	Generalized amyotrophy	HP:0003700
8878	SQSTM1	Proximal muscle weakness	HP:0003701
8878	SQSTM1	Gliosis	HP:0002171
8878	SQSTM1	Abulia	HP:0012671
8878	SQSTM1	Nystagmus	HP:0000639
8878	SQSTM1	Skeletal muscle atrophy	HP:0003202
8878	SQSTM1	Abnormal mitochondrial morphology	HP:0008322
8878	SQSTM1	Facial palsy	HP:0010628
8878	SQSTM1	Neurodegeneration	HP:0002180
8878	SQSTM1	Dyscalculia	HP:0002442
8878	SQSTM1	Apraxia	HP:0002186
8878	SQSTM1	Astrocytosis	HP:0002446
8878	SQSTM1	Paralysis	HP:0003470
8878	SQSTM1	Oculomotor apraxia	HP:0000657
8878	SQSTM1	Distal muscle weakness	HP:0002460
8878	SQSTM1	Babinski sign	HP:0003487
8878	SQSTM1	Language impairment	HP:0002463
8878	SQSTM1	Poor speech	HP:0002465
8878	SQSTM1	Elevated serum creatine kinase	HP:0003236
8878	SQSTM1	Bilateral sensorineural hearing impairment	HP:0008619
8878	SQSTM1	Amyotrophic lateral sclerosis	HP:0007354
8878	SQSTM1	Upper motor neuron dysfunction	HP:0002493
8878	SQSTM1	EEG with continuous slow activity	HP:0011204
8878	SQSTM1	Abnormality of the cerebral white matter	HP:0002500
8878	SQSTM1	Psychosis	HP:0000709
8878	SQSTM1	Hyperorality	HP:0000710
8878	SQSTM1	Restlessness	HP:0000711
8878	SQSTM1	Emotional lability	HP:0000712
8878	SQSTM1	Agitation	HP:0000713
8878	SQSTM1	Depressivity	HP:0000716
8878	SQSTM1	Aggressive behavior	HP:0000718
8878	SQSTM1	Inappropriate behavior	HP:0000719
8878	SQSTM1	Restrictive behavior	HP:0000723
8878	SQSTM1	Xerostomia	HP:0000217
8878	SQSTM1	Thickened nuchal skin fold	HP:0000474
8878	SQSTM1	Stereotypy	HP:0000733
8878	SQSTM1	Rimmed vacuoles	HP:0003805
8878	SQSTM1	Disinhibition	HP:0000734
8878	SQSTM1	Dysphagia	HP:0002015
8878	SQSTM1	Irritability	HP:0000737
8878	SQSTM1	Nausea and vomiting	HP:0002017
8878	SQSTM1	Tetraparesis	HP:0002273
8878	SQSTM1	Hallucinations	HP:0000738
8878	SQSTM1	Anxiety	HP:0000739
8878	SQSTM1	Apathy	HP:0000741
8878	SQSTM1	Spasticity	HP:0001257
8878	SQSTM1	Global brain atrophy	HP:0002283
8878	SQSTM1	Frontotemporal cerebral atrophy	HP:0006892
8878	SQSTM1	Dysarthria	HP:0001260
8878	SQSTM1	Osteolysis	HP:0002797
8878	SQSTM1	Personality changes	HP:0000751
8878	SQSTM1	Hyporeflexia	HP:0001265
8878	SQSTM1	Fatigable weakness of swallowing muscles	HP:0030195
8878	SQSTM1	Pain	HP:0012531
8878	SQSTM1	Mental deterioration	HP:0001268
8878	SQSTM1	Fatigable weakness of respiratory muscles	HP:0030196
8878	SQSTM1	Lack of insight	HP:0000757
8878	SQSTM1	Cerebellar atrophy	HP:0001272
8878	SQSTM1	Mutism	HP:0002300
8878	SQSTM1	Generalized muscle weakness	HP:0003324
8878	SQSTM1	Ptosis	HP:0000508
8878	SQSTM1	Vertical supranuclear gaze palsy	HP:0000511
8879	SGPL1	Ichthyosis	HP:0008064
8879	SGPL1	Hypoalbuminemia	HP:0003073
8879	SGPL1	Hypogonadism	HP:0000135
8879	SGPL1	Developmental regression	HP:0002376
8879	SGPL1	Edema	HP:0000969
8879	SGPL1	Generalized hypotonia	HP:0001290
8879	SGPL1	Adrenal insufficiency	HP:0000846
8879	SGPL1	Hypoglycemia	HP:0001943
8879	SGPL1	Cryptorchidism	HP:0000028
8879	SGPL1	Progressive	HP:0003676
8879	SGPL1	Proteinuria	HP:0000093
8879	SGPL1	Focal segmental glomerulosclerosis	HP:0000097
8879	SGPL1	Seizures	HP:0001250
8879	SGPL1	Ataxia	HP:0001251
8879	SGPL1	Nephrotic syndrome	HP:0000100
8879	SGPL1	Strabismus	HP:0000486
8879	SGPL1	Hypertriglyceridemia	HP:0002155
8879	SGPL1	Diffuse mesangial sclerosis	HP:0001967
8879	SGPL1	Global developmental delay	HP:0001263
8879	SGPL1	Variable expressivity	HP:0003828
8879	SGPL1	Mental deterioration	HP:0001268
8879	SGPL1	Hypothyroidism	HP:0000821
8879	SGPL1	Micropenis	HP:0000054
8879	SGPL1	Ptosis	HP:0000508
8879	SGPL1	Stage 5 chronic kidney disease	HP:0003774
695	BTK	Enteroviral hepatitis	HP:0001412
695	BTK	Otitis media	HP:0000388
695	BTK	Recurrent pneumonia	HP:0006532
695	BTK	Chronic otitis media	HP:0000389
695	BTK	Meningitis	HP:0001287
695	BTK	Recurrent urinary tract infections	HP:0000010
695	BTK	X-linked recessive inheritance	HP:0001419
695	BTK	Autoimmunity	HP:0002960
695	BTK	Enteroviral dermatomyositis syndrome	HP:0003729
695	BTK	Septic arthritis	HP:0003095
695	BTK	Sensorineural hearing impairment	HP:0000407
695	BTK	Prostatitis	HP:0000024
695	BTK	Fever	HP:0001945
695	BTK	Abnormality of the tonsils	HP:0100765
695	BTK	Hypopigmented skin patches	HP:0001053
695	BTK	Recurrent bacterial infections	HP:0002718
695	BTK	Epididymitis	HP:0000031
695	BTK	Weight loss	HP:0001824
695	BTK	Immunodeficiency	HP:0002721
695	BTK	Glossoptosis	HP:0000162
695	BTK	Pneumonia	HP:0002090
695	BTK	Lymph node hypoplasia	HP:0002732
695	BTK	Cellulitis	HP:0100658
695	BTK	Recurrent enteroviral infections	HP:0002743
695	BTK	Growth hormone deficiency	HP:0000824
695	BTK	Alopecia	HP:0001596
695	BTK	Delayed skeletal maturation	HP:0002750
695	BTK	Osteomyelitis	HP:0002754
695	BTK	Panhypogammaglobulinemia	HP:0003139
695	BTK	Sepsis	HP:0100806
695	BTK	Encephalitis	HP:0002383
695	BTK	Agammaglobulinemia	HP:0004432
695	BTK	Thrombocytopenia	HP:0001873
695	BTK	Hepatitis	HP:0012115
695	BTK	Neutropenia	HP:0001875
695	BTK	Hypocalcemia	HP:0002901
695	BTK	Arthritis	HP:0001369
695	BTK	Fatigue	HP:0012378
695	BTK	Skin rash	HP:0000988
695	BTK	Diarrhea	HP:0002014
695	BTK	Short stature	HP:0004322
695	BTK	Failure to thrive	HP:0001508
695	BTK	Pyoderma	HP:0000999
695	BTK	Recurrent cutaneous abscess formation	HP:0100838
695	BTK	Neoplasm	HP:0002664
695	BTK	Malabsorption	HP:0002024
695	BTK	Skin ulcer	HP:0200042
695	BTK	Chronic diarrhea	HP:0002028
695	BTK	Hearing impairment	HP:0000365
695	BTK	Delayed speech and language development	HP:0000750
695	BTK	Anemia	HP:0001903
695	BTK	Cor pulmonale	HP:0001648
695	BTK	Sinusitis	HP:0000246
695	BTK	Conjunctivitis	HP:0000509
8888	MCM3AP	Abnormality of the foot	HP:0001760
8888	MCM3AP	Foot dorsiflexor weakness	HP:0009027
8888	MCM3AP	Areflexia	HP:0001284
8888	MCM3AP	Strabismus	HP:0000486
8888	MCM3AP	Generalized hypotonia	HP:0001290
8888	MCM3AP	Unsteady gait	HP:0002317
8888	MCM3AP	Delayed speech and language development	HP:0000750
8888	MCM3AP	Hyporeflexia	HP:0001265
8888	MCM3AP	Peripheral axonal neuropathy	HP:0003477
8888	MCM3AP	Motor delay	HP:0001270
8888	MCM3AP	Distal sensory impairment	HP:0002936
8888	MCM3AP	Ophthalmoplegia	HP:0000602
8888	MCM3AP	Slow progression	HP:0003677
8890	EIF2B4	Macrocephaly	HP:0000256
8890	EIF2B4	Primary gonadal insufficiency	HP:0008193
8890	EIF2B4	Cessation of head growth	HP:0004485
8890	EIF2B4	Autosomal recessive inheritance	HP:0000007
8890	EIF2B4	Emotional lability	HP:0000712
8890	EIF2B4	Optic atrophy	HP:0000648
8890	EIF2B4	Developmental regression	HP:0002376
8890	EIF2B4	Gait disturbance	HP:0001288
8890	EIF2B4	CNS demyelination	HP:0007305
8890	EIF2B4	Generalized hypotonia	HP:0001290
8890	EIF2B4	Unsteady gait	HP:0002317
8890	EIF2B4	Premature ovarian insufficiency	HP:0008209
8890	EIF2B4	Primary amenorrhea	HP:0000786
8890	EIF2B4	Cerebral hypomyelination	HP:0006808
8890	EIF2B4	Fever	HP:0001945
8890	EIF2B4	Seizures	HP:0001250
8890	EIF2B4	Muscular hypotonia	HP:0001252
8890	EIF2B4	Juvenile onset	HP:0003621
8890	EIF2B4	Secondary amenorrhea	HP:0000869
8890	EIF2B4	Lethargy	HP:0001254
8890	EIF2B4	Decreased circulating progesterone	HP:0008233
8890	EIF2B4	Spasticity	HP:0001257
8890	EIF2B4	Delusions	HP:0000746
8890	EIF2B4	Blindness	HP:0000618
8890	EIF2B4	Dysarthria	HP:0001260
8890	EIF2B4	Personality changes	HP:0000751
8890	EIF2B4	Leukoencephalopathy	HP:0002352
8890	EIF2B4	Memory impairment	HP:0002354
8890	EIF2B4	Gliosis	HP:0002171
699	BUB1	Increased nuchal translucency	HP:0010880
699	BUB1	Multicystic kidney dysplasia	HP:0000003
699	BUB1	Ascites	HP:0001541
699	BUB1	Cataract	HP:0000518
699	BUB1	Multiple cafe-au-lait spots	HP:0007565
699	BUB1	Coarctation of aorta	HP:0001680
699	BUB1	Subvalvular aortic stenosis	HP:0001682
699	BUB1	Corneal opacity	HP:0007957
699	BUB1	Dandy-Walker malformation	HP:0001305
699	BUB1	Polyhydramnios	HP:0001561
699	BUB1	Epicanthus	HP:0000286
699	BUB1	Rhabdomyosarcoma	HP:0002859
699	BUB1	Vaginal neoplasm	HP:0100650
699	BUB1	Myelodysplasia	HP:0002863
699	BUB1	Cleft palate	HP:0000175
699	BUB1	Abnormal lung lobation	HP:0002101
699	BUB1	Hypothyroidism	HP:0000821
699	BUB1	Microphthalmia	HP:0000568
699	BUB1	Apnea	HP:0002104
699	BUB1	Colon cancer	HP:0003003
699	BUB1	Wide nose	HP:0000445
699	BUB1	Ambiguous genitalia	HP:0000062
699	BUB1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
699	BUB1	Acute lymphoblastic leukemia	HP:0006721
699	BUB1	Triangular face	HP:0000325
699	BUB1	Duodenal atresia	HP:0002247
699	BUB1	Depressed nasal ridge	HP:0000457
699	BUB1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
699	BUB1	Intestinal polyposis	HP:0200008
699	BUB1	Holoprosencephaly	HP:0001360
699	BUB1	Sloping forehead	HP:0000340
699	BUB1	Frontal bossing	HP:0002007
699	BUB1	Micrognathia	HP:0000347
699	BUB1	High forehead	HP:0000348
699	BUB1	Stomach cancer	HP:0012126
699	BUB1	Atrial septal defect	HP:0001631
699	BUB1	Intellectual disability	HP:0001249
699	BUB1	Seizures	HP:0001250
699	BUB1	Short stature	HP:0004322
699	BUB1	Abnormality of immune system physiology	HP:0010978
699	BUB1	Muscular hypotonia	HP:0001252
699	BUB1	Intrauterine growth retardation	HP:0001511
699	BUB1	Muscular dystrophy	HP:0003560
699	BUB1	Abnormality of skin pigmentation	HP:0001000
699	BUB1	Nephroblastoma	HP:0002667
699	BUB1	Hearing impairment	HP:0000365
699	BUB1	Osteolysis	HP:0002797
699	BUB1	Downslanted palpebral fissures	HP:0000494
699	BUB1	Global developmental delay	HP:0001263
699	BUB1	Low-set, posteriorly rotated ears	HP:0000368
699	BUB1	Clinodactyly of the 5th finger	HP:0004209
699	BUB1	Glaucoma	HP:0000501
699	BUB1	Abnormality of vision	HP:0000504
699	BUB1	Aortic regurgitation	HP:0001659
699	BUB1	Microcephaly	HP:0000252
8891	EIF2B3	Macrocephaly	HP:0000256
8891	EIF2B3	Primary gonadal insufficiency	HP:0008193
8891	EIF2B3	Cessation of head growth	HP:0004485
8891	EIF2B3	Autosomal recessive inheritance	HP:0000007
8891	EIF2B3	Emotional lability	HP:0000712
8891	EIF2B3	Optic atrophy	HP:0000648
8891	EIF2B3	Developmental regression	HP:0002376
8891	EIF2B3	Gait disturbance	HP:0001288
8891	EIF2B3	CNS demyelination	HP:0007305
8891	EIF2B3	Generalized hypotonia	HP:0001290
8891	EIF2B3	Unsteady gait	HP:0002317
8891	EIF2B3	Premature ovarian insufficiency	HP:0008209
8891	EIF2B3	Primary amenorrhea	HP:0000786
8891	EIF2B3	Cerebral hypomyelination	HP:0006808
8891	EIF2B3	Fever	HP:0001945
8891	EIF2B3	Seizures	HP:0001250
8891	EIF2B3	Muscular hypotonia	HP:0001252
8891	EIF2B3	Juvenile onset	HP:0003621
8891	EIF2B3	Secondary amenorrhea	HP:0000869
8891	EIF2B3	Lethargy	HP:0001254
8891	EIF2B3	Decreased circulating progesterone	HP:0008233
8891	EIF2B3	Spasticity	HP:0001257
8891	EIF2B3	Delusions	HP:0000746
8891	EIF2B3	Blindness	HP:0000618
8891	EIF2B3	Dysarthria	HP:0001260
8891	EIF2B3	Personality changes	HP:0000751
8891	EIF2B3	Leukoencephalopathy	HP:0002352
8891	EIF2B3	Memory impairment	HP:0002354
8891	EIF2B3	Gliosis	HP:0002171
8892	EIF2B2	Macrocephaly	HP:0000256
8892	EIF2B2	Primary gonadal insufficiency	HP:0008193
8892	EIF2B2	Cessation of head growth	HP:0004485
8892	EIF2B2	Autosomal recessive inheritance	HP:0000007
8892	EIF2B2	Emotional lability	HP:0000712
8892	EIF2B2	Optic atrophy	HP:0000648
8892	EIF2B2	Developmental regression	HP:0002376
8892	EIF2B2	Gait disturbance	HP:0001288
8892	EIF2B2	CNS demyelination	HP:0007305
8892	EIF2B2	Generalized hypotonia	HP:0001290
8892	EIF2B2	Unsteady gait	HP:0002317
8892	EIF2B2	Premature ovarian insufficiency	HP:0008209
8892	EIF2B2	Primary amenorrhea	HP:0000786
8892	EIF2B2	Cerebral hypomyelination	HP:0006808
8892	EIF2B2	Fever	HP:0001945
8892	EIF2B2	Seizures	HP:0001250
8892	EIF2B2	Muscular hypotonia	HP:0001252
8892	EIF2B2	Juvenile onset	HP:0003621
8892	EIF2B2	Secondary amenorrhea	HP:0000869
8892	EIF2B2	Lethargy	HP:0001254
8892	EIF2B2	Decreased circulating progesterone	HP:0008233
8892	EIF2B2	Spasticity	HP:0001257
8892	EIF2B2	Delusions	HP:0000746
8892	EIF2B2	Blindness	HP:0000618
8892	EIF2B2	Dysarthria	HP:0001260
8892	EIF2B2	Personality changes	HP:0000751
8892	EIF2B2	Leukoencephalopathy	HP:0002352
8892	EIF2B2	Memory impairment	HP:0002354
8892	EIF2B2	Gliosis	HP:0002171
701	BUB1B	Multicystic kidney dysplasia	HP:0000003
701	BUB1B	Ascites	HP:0001541
701	BUB1B	Autosomal dominant inheritance	HP:0000006
701	BUB1B	Cataract	HP:0000518
701	BUB1B	Autosomal recessive inheritance	HP:0000007
701	BUB1B	Generalized hypotonia	HP:0001290
701	BUB1B	Combined immunodeficiency	HP:0005387
701	BUB1B	Malar flattening	HP:0000272
701	BUB1B	Corneal opacity	HP:0007957
701	BUB1B	Generalized tonic-clonic seizures	HP:0002069
701	BUB1B	Midface retrusion	HP:0011800
701	BUB1B	Dandy-Walker malformation	HP:0001305
701	BUB1B	Polyhydramnios	HP:0001561
701	BUB1B	Oligohydramnios	HP:0001562
701	BUB1B	Cryptorchidism	HP:0000028
701	BUB1B	Epicanthus	HP:0000286
701	BUB1B	Cerebellar hypoplasia	HP:0001321
701	BUB1B	Rhabdomyosarcoma	HP:0002859
701	BUB1B	Vaginal neoplasm	HP:0100650
701	BUB1B	Myelodysplasia	HP:0002863
701	BUB1B	Hypospadias	HP:0000047
701	BUB1B	Bifid scrotum	HP:0000048
701	BUB1B	Abnormal lung lobation	HP:0002101
701	BUB1B	Hypothyroidism	HP:0000821
701	BUB1B	Micropenis	HP:0000054
701	BUB1B	Microphthalmia	HP:0000568
701	BUB1B	Apnea	HP:0002104
701	BUB1B	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
701	BUB1B	Hypertelorism	HP:0000316
701	BUB1B	Ambiguous genitalia	HP:0000062
701	BUB1B	Acute lymphoblastic leukemia	HP:0006721
701	BUB1B	Triangular face	HP:0000325
701	BUB1B	Upslanted palpebral fissure	HP:0000582
701	BUB1B	Ventriculomegaly	HP:0002119
701	BUB1B	Uterine leiomyosarcoma	HP:0002891
701	BUB1B	Intestinal polyposis	HP:0200008
701	BUB1B	Generalized myoclonic seizures	HP:0002123
701	BUB1B	Holoprosencephaly	HP:0001360
701	BUB1B	Severe global developmental delay	HP:0011344
701	BUB1B	Transitional cell carcinoma of the bladder	HP:0006740
701	BUB1B	Sloping forehead	HP:0000340
701	BUB1B	Long philtrum	HP:0000343
701	BUB1B	Micrognathia	HP:0000347
701	BUB1B	Premature chromatid separation	HP:0200024
701	BUB1B	High forehead	HP:0000348
701	BUB1B	Stomach cancer	HP:0012126
701	BUB1B	Atrial septal defect	HP:0001631
701	BUB1B	Neoplasm of the stomach	HP:0006753
701	BUB1B	Posteriorly rotated ears	HP:0000358
701	BUB1B	Nephroblastoma	HP:0002667
701	BUB1B	Renal cyst	HP:0000107
701	BUB1B	Hearing impairment	HP:0000365
701	BUB1B	Short sternum	HP:0000879
701	BUB1B	Low-set, posteriorly rotated ears	HP:0000368
701	BUB1B	Clinodactyly of the 5th finger	HP:0004209
701	BUB1B	Low-set ears	HP:0000369
701	BUB1B	Leukemia	HP:0001909
701	BUB1B	Aortic regurgitation	HP:0001659
701	BUB1B	Short nose	HP:0003196
701	BUB1B	Nystagmus	HP:0000639
701	BUB1B	Increased nuchal translucency	HP:0010880
701	BUB1B	Intellectual disability, profound	HP:0002187
701	BUB1B	Multiple cafe-au-lait spots	HP:0007565
701	BUB1B	Coarctation of aorta	HP:0001680
701	BUB1B	Subvalvular aortic stenosis	HP:0001682
701	BUB1B	Somatic mutation	HP:0001428
701	BUB1B	Depressed nasal bridge	HP:0005280
701	BUB1B	Feeding difficulties in infancy	HP:0008872
701	BUB1B	Cleft palate	HP:0000175
701	BUB1B	Colon cancer	HP:0003003
701	BUB1B	Wide nose	HP:0000445
701	BUB1B	Aplasia/Hypoplasia of the cerebellum	HP:0007360
701	BUB1B	Postnatal growth retardation	HP:0008897
701	BUB1B	Hypodysplasia of the corpus callosum	HP:0006849
701	BUB1B	Duodenal atresia	HP:0002247
701	BUB1B	Depressed nasal ridge	HP:0000457
701	BUB1B	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
701	BUB1B	Triangular mouth	HP:0000207
701	BUB1B	Anteverted nares	HP:0000463
701	BUB1B	Renal cell carcinoma	HP:0005584
701	BUB1B	Short neck	HP:0000470
701	BUB1B	Frontal bossing	HP:0002007
701	BUB1B	Cerebral hypoplasia	HP:0006872
701	BUB1B	Intellectual disability	HP:0001249
701	BUB1B	Seizures	HP:0001250
701	BUB1B	Short stature	HP:0004322
701	BUB1B	Abnormality of immune system physiology	HP:0010978
701	BUB1B	Muscular hypotonia	HP:0001252
701	BUB1B	Intrauterine growth retardation	HP:0001511
701	BUB1B	Muscular dystrophy	HP:0003560
701	BUB1B	Abnormality of skin pigmentation	HP:0001000
701	BUB1B	Osteolysis	HP:0002797
701	BUB1B	Downslanted palpebral fissures	HP:0000494
701	BUB1B	Hydrocephalus	HP:0000238
701	BUB1B	Small for gestational age	HP:0001518
701	BUB1B	Global developmental delay	HP:0001263
701	BUB1B	Glaucoma	HP:0000501
701	BUB1B	Abnormality of vision	HP:0000504
701	BUB1B	Brachycephaly	HP:0000248
701	BUB1B	Agenesis of corpus callosum	HP:0001274
701	BUB1B	Microcephaly	HP:0000252
8893	EIF2B5	Macrocephaly	HP:0000256
8893	EIF2B5	Primary gonadal insufficiency	HP:0008193
8893	EIF2B5	Cessation of head growth	HP:0004485
8893	EIF2B5	Autosomal recessive inheritance	HP:0000007
8893	EIF2B5	Emotional lability	HP:0000712
8893	EIF2B5	Optic atrophy	HP:0000648
8893	EIF2B5	Developmental regression	HP:0002376
8893	EIF2B5	Gait disturbance	HP:0001288
8893	EIF2B5	CNS demyelination	HP:0007305
8893	EIF2B5	Generalized hypotonia	HP:0001290
8893	EIF2B5	Unsteady gait	HP:0002317
8893	EIF2B5	Premature ovarian insufficiency	HP:0008209
8893	EIF2B5	Primary amenorrhea	HP:0000786
8893	EIF2B5	Cerebral hypomyelination	HP:0006808
8893	EIF2B5	Fever	HP:0001945
8893	EIF2B5	Seizures	HP:0001250
8893	EIF2B5	Muscular hypotonia	HP:0001252
8893	EIF2B5	Juvenile onset	HP:0003621
8893	EIF2B5	Secondary amenorrhea	HP:0000869
8893	EIF2B5	Lethargy	HP:0001254
8893	EIF2B5	Decreased circulating progesterone	HP:0008233
8893	EIF2B5	Spasticity	HP:0001257
8893	EIF2B5	Delusions	HP:0000746
8893	EIF2B5	Blindness	HP:0000618
8893	EIF2B5	Dysarthria	HP:0001260
8893	EIF2B5	Personality changes	HP:0000751
8893	EIF2B5	Leukoencephalopathy	HP:0002352
8893	EIF2B5	Memory impairment	HP:0002354
8893	EIF2B5	Gliosis	HP:0002171
49855	SCAPER	Abnormal electroretinogram	HP:0000512
49855	SCAPER	Hyperreflexia	HP:0001347
49855	SCAPER	Cataract	HP:0000518
49855	SCAPER	Hypogonadism	HP:0000135
49855	SCAPER	Optic atrophy	HP:0000648
49855	SCAPER	Hyperinsulinemia	HP:0000842
49855	SCAPER	Anteverted nares	HP:0000463
49855	SCAPER	Conductive hearing impairment	HP:0000405
49855	SCAPER	Sensorineural hearing impairment	HP:0000407
49855	SCAPER	Abnormality of retinal pigmentation	HP:0007703
49855	SCAPER	Ophthalmoplegia	HP:0000602
49855	SCAPER	Type II diabetes mellitus	HP:0005978
49855	SCAPER	Atypical scarring of skin	HP:0000987
49855	SCAPER	Hypoplasia of penis	HP:0008736
49855	SCAPER	Macular degeneration	HP:0000608
49855	SCAPER	Intellectual disability	HP:0001249
49855	SCAPER	Abnormal testis morphology	HP:0000035
49855	SCAPER	Photophobia	HP:0000613
49855	SCAPER	Obesity	HP:0001513
49855	SCAPER	Blindness	HP:0000618
49855	SCAPER	Abnormal retinal vascular morphology	HP:0008046
49855	SCAPER	Wide nasal bridge	HP:0000431
49855	SCAPER	Reduced visual acuity	HP:0007663
49855	SCAPER	Peripapillary atrophy	HP:0500087
49855	SCAPER	Keratoconus	HP:0000563
49855	SCAPER	Glaucoma	HP:0000501
49855	SCAPER	Abnormal flash visual evoked potentials	HP:0007928
49855	SCAPER	Progressive night blindness	HP:0007675
49855	SCAPER	Nystagmus	HP:0000639
8898	MTMR2	Talipes equinovarus	HP:0001762
8898	MTMR2	Facial palsy	HP:0010628
8898	MTMR2	Autosomal recessive inheritance	HP:0000007
8898	MTMR2	Decreased motor nerve conduction velocity	HP:0003431
8898	MTMR2	Irregular myelin loops	HP:0007208
8898	MTMR2	Distal amyotrophy	HP:0003693
8898	MTMR2	Abnormal auditory evoked potentials	HP:0006958
8898	MTMR2	Heterogeneous	HP:0001425
8898	MTMR2	Proximal muscle weakness	HP:0003701
8898	MTMR2	Motor delay	HP:0001270
8898	MTMR2	Distal sensory impairment	HP:0002936
8898	MTMR2	Scoliosis	HP:0002650
8898	MTMR2	Distal muscle weakness	HP:0002460
708	C1QBP	Astigmatism	HP:0000483
708	C1QBP	Elevated serum creatine kinase	HP:0003236
708	C1QBP	Nephrotic syndrome	HP:0000100
708	C1QBP	Cardiomyopathy	HP:0001638
708	C1QBP	Amblyopia	HP:0000646
708	C1QBP	Increased serum lactate	HP:0002151
708	C1QBP	Cardiomegaly	HP:0001640
708	C1QBP	Progressive external ophthalmoplegia	HP:0000590
708	C1QBP	Left ventricular hypertrophy	HP:0001712
708	C1QBP	Exercise intolerance	HP:0003546
708	C1QBP	Fatigue	HP:0012378
708	C1QBP	Ptosis	HP:0000508
708	C1QBP	Adult onset	HP:0003581
708	C1QBP	Myopathy	HP:0003198
708	C1QBP	Elevated hepatic transaminase	HP:0002910
710	SERPING1	Abnormality of the larynx	HP:0001600
710	SERPING1	Dermatographic urticaria	HP:0011971
710	SERPING1	Limbal edema	HP:0025349
710	SERPING1	Autosomal dominant inheritance	HP:0000006
710	SERPING1	Autosomal recessive inheritance	HP:0000007
710	SERPING1	Hoarse voice	HP:0001609
710	SERPING1	Paresthesia	HP:0003401
710	SERPING1	Axonal degeneration	HP:0040078
710	SERPING1	Pharyngeal edema	HP:0011855
710	SERPING1	Autoimmunity	HP:0002960
710	SERPING1	Abnormality of salivation	HP:0100755
710	SERPING1	Peripheral axonal neuropathy	HP:0003477
710	SERPING1	Facial edema	HP:0000282
710	SERPING1	Edema of the dorsum of hands	HP:0007514
710	SERPING1	Vomiting	HP:0002013
710	SERPING1	Diarrhea	HP:0002014
710	SERPING1	Erythema	HP:0010783
710	SERPING1	Dysphagia	HP:0002015
710	SERPING1	Nausea	HP:0002018
710	SERPING1	Inspiratory stridor	HP:0005348
710	SERPING1	Systemic lupus erythematosus	HP:0002725
710	SERPING1	Intestinal edema	HP:0005225
710	SERPING1	Abdominal pain	HP:0002027
710	SERPING1	Abnormal epiglottis morphology	HP:0005483
710	SERPING1	Abnormality of the uvula	HP:0000172
710	SERPING1	Respiratory distress	HP:0002098
710	SERPING1	Hypotension	HP:0002615
710	SERPING1	Angioedema	HP:0100665
710	SERPING1	Laryngeal edema	HP:0012027
710	SERPING1	Tongue edema	HP:0040315
115399	LRRC56	Chronic lung disease	HP:0006528
115399	LRRC56	Dextrocardia	HP:0001651
115399	LRRC56	Double outlet right ventricle	HP:0001719
115399	LRRC56	Recurrent respiratory infections	HP:0002205
115399	LRRC56	Bronchiectasis	HP:0002110
712	C1QA	Systemic lupus erythematosus	HP:0002725
712	C1QA	Autosomal recessive inheritance	HP:0000007
712	C1QA	Membranoproliferative glomerulonephritis	HP:0000793
712	C1QA	Decreased serum complement factor I	HP:0005356
712	C1QA	Recurrent infections	HP:0002719
197322	ACSF3	Generalized clonic seizures	HP:0011169
197322	ACSF3	Failure to thrive	HP:0001508
197322	ACSF3	Autosomal recessive inheritance	HP:0000007
197322	ACSF3	Dehydration	HP:0001944
197322	ACSF3	Methylmalonic aciduria	HP:0012120
197322	ACSF3	Ketoacidosis	HP:0001993
197322	ACSF3	Vomiting	HP:0002013
197322	ACSF3	Diarrhea	HP:0002014
197322	ACSF3	Global developmental delay	HP:0001263
713	C1QB	Systemic lupus erythematosus	HP:0002725
713	C1QB	Autosomal recessive inheritance	HP:0000007
713	C1QB	Membranoproliferative glomerulonephritis	HP:0000793
713	C1QB	Decreased serum complement factor I	HP:0005356
713	C1QB	Recurrent infections	HP:0002719
8905	AP1S2	Macrocephaly	HP:0000256
8905	AP1S2	Skeletal muscle atrophy	HP:0003202
8905	AP1S2	Gait disturbance	HP:0001288
8905	AP1S2	X-linked inheritance	HP:0001417
8905	AP1S2	Infantile onset	HP:0003593
8905	AP1S2	Generalized hypotonia	HP:0001290
8905	AP1S2	Intellectual disability, profound	HP:0002187
8905	AP1S2	X-linked recessive inheritance	HP:0001419
8905	AP1S2	Macrotia	HP:0000400
8905	AP1S2	Gait ataxia	HP:0002066
8905	AP1S2	Long face	HP:0000276
8905	AP1S2	Inguinal hernia	HP:0000023
8905	AP1S2	Sensorineural hearing impairment	HP:0000407
8905	AP1S2	Coarse facial features	HP:0000280
8905	AP1S2	Dandy-Walker malformation	HP:0001305
8905	AP1S2	Wide mouth	HP:0000154
8905	AP1S2	Protruding ear	HP:0000411
8905	AP1S2	Cryptorchidism	HP:0000028
8905	AP1S2	Poor speech	HP:0002465
8905	AP1S2	Abnormal cerebellum morphology	HP:0001317
8905	AP1S2	Intellectual disability, moderate	HP:0002342
8905	AP1S2	Mandibular prognathia	HP:0000303
8905	AP1S2	EEG abnormality	HP:0002353
8905	AP1S2	Thick vermilion border	HP:0012471
8905	AP1S2	Feeding difficulties	HP:0011968
8905	AP1S2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
8905	AP1S2	Prominent nose	HP:0000448
8905	AP1S2	Open mouth	HP:0000194
8905	AP1S2	Short philtrum	HP:0000322
8905	AP1S2	Hyperreflexia	HP:0001347
8905	AP1S2	Triangular face	HP:0000325
8905	AP1S2	Ventriculomegaly	HP:0002119
8905	AP1S2	Cerebral cortical atrophy	HP:0002120
8905	AP1S2	Short chin	HP:0000331
8905	AP1S2	Abnormality of the optic nerve	HP:0000587
8905	AP1S2	Aggressive behavior	HP:0000718
8905	AP1S2	Cerebral calcification	HP:0002514
8905	AP1S2	Prominent forehead	HP:0011220
8905	AP1S2	Abnormality of the basal ganglia	HP:0002134
8905	AP1S2	Autistic behavior	HP:0000729
8905	AP1S2	Scoliosis	HP:0002650
8905	AP1S2	High palate	HP:0000218
8905	AP1S2	Flexion contracture	HP:0001371
8905	AP1S2	High forehead	HP:0000348
8905	AP1S2	Short stature	HP:0004322
8905	AP1S2	Seizures	HP:0001250
8905	AP1S2	Muscular hypotonia	HP:0001252
8905	AP1S2	Strabismus	HP:0000486
8905	AP1S2	Spasticity	HP:0001257
8905	AP1S2	Deeply set eye	HP:0000490
8905	AP1S2	High-frequency hearing impairment	HP:0005101
8905	AP1S2	Self-injurious behavior	HP:0100716
8905	AP1S2	Hearing impairment	HP:0000365
8905	AP1S2	Hydrocephalus	HP:0000238
8905	AP1S2	Global developmental delay	HP:0001263
8905	AP1S2	Intellectual disability, severe	HP:0010864
8905	AP1S2	Spastic diplegia	HP:0001264
8905	AP1S2	Choreoathetosis	HP:0001266
8905	AP1S2	Long nose	HP:0003189
8905	AP1S2	Microcephaly	HP:0000252
8905	AP1S2	Thickened calvaria	HP:0002684
8905	AP1S2	Myopathy	HP:0003198
714	C1QC	Systemic lupus erythematosus	HP:0002725
714	C1QC	Autosomal recessive inheritance	HP:0000007
714	C1QC	Membranoproliferative glomerulonephritis	HP:0000793
714	C1QC	Decreased serum complement factor I	HP:0005356
714	C1QC	Recurrent infections	HP:0002719
715	C1R	Periodontitis	HP:0000704
715	C1R	Thin skin	HP:0000963
715	C1R	Autosomal dominant inheritance	HP:0000006
715	C1R	Intestinal perforation	HP:0031368
715	C1R	Hoarse voice	HP:0001609
715	C1R	Generalized joint laxity	HP:0002761
715	C1R	Hypermelanotic macule	HP:0001034
715	C1R	Agenesis of permanent teeth	HP:0006349
715	C1R	Hyperextensible skin	HP:0000974
715	C1R	Arachnodactyly	HP:0001166
715	C1R	Blue sclerae	HP:0000592
715	C1R	Premature loss of teeth	HP:0006480
715	C1R	Autoimmunity	HP:0002960
715	C1R	Soft skin	HP:0000977
715	C1R	Bruising susceptibility	HP:0000978
715	C1R	Gingival overgrowth	HP:0000212
715	C1R	Inguinal hernia	HP:0000023
715	C1R	Scoliosis	HP:0002650
715	C1R	Micrognathia	HP:0000347
715	C1R	Palmoplantar cutis laxa	HP:0007517
715	C1R	Recurrent infections	HP:0002719
715	C1R	Gingival recession	HP:0030816
715	C1R	Gingival bleeding	HP:0000225
715	C1R	Short stature	HP:0004322
715	C1R	Poor wound healing	HP:0001058
715	C1R	Tall stature	HP:0000098
715	C1R	Atrophy of alveolar ridges	HP:0006308
715	C1R	Joint laxity	HP:0001388
715	C1R	Alveolar bone loss around teeth	HP:0410027
715	C1R	Premature loss of primary teeth	HP:0006323
715	C1R	Atrophic scars	HP:0001075
715	C1R	Microdontia	HP:0000691
715	C1R	Joint hyperflexibility	HP:0005692
716	C1S	Periodontitis	HP:0000704
716	C1S	Umbilical hernia	HP:0001537
716	C1S	Autosomal dominant inheritance	HP:0000006
716	C1S	Fragile skin	HP:0001030
716	C1S	Hypermelanotic macule	HP:0001034
716	C1S	Arthralgia	HP:0002829
716	C1S	Agenesis of permanent teeth	HP:0006349
716	C1S	Hyperextensible skin	HP:0000974
716	C1S	Bruising susceptibility	HP:0000978
716	C1S	Hepatitis	HP:0012115
716	C1S	Gingival overgrowth	HP:0000212
716	C1S	Inguinal hernia	HP:0000023
716	C1S	Scoliosis	HP:0002650
716	C1S	Abnormality of complement system	HP:0005339
716	C1S	Micrognathia	HP:0000347
716	C1S	Gingival bleeding	HP:0000225
716	C1S	Short stature	HP:0004322
716	C1S	Atrophy of alveolar ridges	HP:0006308
716	C1S	Systemic lupus erythematosus	HP:0002725
716	C1S	Joint hypermobility	HP:0001382
716	C1S	Neoplasm	HP:0002664
716	C1S	Hashimoto thyroiditis	HP:0000872
716	C1S	Premature loss of primary teeth	HP:0006323
716	C1S	Atrophic scars	HP:0001075
716	C1S	Microdontia	HP:0000691
716	C1S	Joint hyperflexibility	HP:0005692
717	C2	Purpura	HP:0000979
717	C2	Systemic lupus erythematosus	HP:0002725
717	C2	Autosomal recessive inheritance	HP:0000007
8910	SGCE	Anxiety	HP:0000739
8910	SGCE	Spinal myoclonus	HP:0010531
8910	SGCE	Juvenile onset	HP:0003621
8910	SGCE	Autosomal dominant inheritance	HP:0000006
8910	SGCE	Generalized hypotonia	HP:0001290
8910	SGCE	Personality disorder	HP:0012075
8910	SGCE	Depressivity	HP:0000716
8910	SGCE	Obsessive-compulsive behavior	HP:0000722
8910	SGCE	Writer's cramp	HP:0002356
8910	SGCE	Agoraphobia	HP:0000756
8910	SGCE	Incomplete penetrance	HP:0003829
8910	SGCE	Panic attack	HP:0025269
8910	SGCE	Myoclonus	HP:0001336
8910	SGCE	Tremor	HP:0001337
8910	SGCE	Torticollis	HP:0000473
8910	SGCE	Limb myoclonus	HP:0045084
718	C3	Renal insufficiency	HP:0000083
718	C3	Nephrotic syndrome	HP:0000100
718	C3	Systemic lupus erythematosus	HP:0002725
718	C3	Autosomal recessive inheritance	HP:0000007
718	C3	Membranoproliferative glomerulonephritis	HP:0000793
718	C3	Decreased serum complement C3	HP:0005421
718	C3	Recurrent bacterial infections	HP:0002718
720	C4A	Abnormal blistering of the skin	HP:0008066
720	C4A	Avascular necrosis	HP:0010885
720	C4A	Cataract	HP:0000518
720	C4A	Autosomal recessive inheritance	HP:0000007
720	C4A	Myositis	HP:0100614
720	C4A	Meningitis	HP:0001287
720	C4A	Gait disturbance	HP:0001288
720	C4A	Confusion	HP:0001289
720	C4A	Arthralgia	HP:0002829
720	C4A	Vertigo	HP:0002321
720	C4A	Gangrene	HP:0100758
720	C4A	Fever	HP:0001945
720	C4A	Pleural effusion	HP:0002202
720	C4A	Oral ulcer	HP:0000155
720	C4A	Lymphadenopathy	HP:0002716
720	C4A	Pulmonary embolism	HP:0002204
720	C4A	Migraine	HP:0002076
720	C4A	Weight loss	HP:0001824
720	C4A	Systemic lupus erythematosus	HP:0002725
720	C4A	Acne	HP:0001061
720	C4A	Pericarditis	HP:0001701
720	C4A	Cranial nerve paralysis	HP:0006824
720	C4A	Retrobulbar optic neuritis	HP:0100654
720	C4A	Memory impairment	HP:0002354
720	C4A	Pleuritis	HP:0002102
720	C4A	Hemoptysis	HP:0002105
720	C4A	Orchitis	HP:0100796
720	C4A	Gastrointestinal hemorrhage	HP:0002239
720	C4A	Pulmonary infiltrates	HP:0002113
720	C4A	Hyperreflexia	HP:0001347
720	C4A	Arterial thrombosis	HP:0004420
720	C4A	Pancreatitis	HP:0001733
720	C4A	Venous thrombosis	HP:0004936
720	C4A	Developmental regression	HP:0002376
720	C4A	Vasculitis	HP:0002633
720	C4A	Paresthesia	HP:0003401
720	C4A	Keratoconjunctivitis sicca	HP:0001097
720	C4A	Subcutaneous nodule	HP:0001482
720	C4A	Cerebral ischemia	HP:0002637
720	C4A	Complement deficiency	HP:0004431
720	C4A	Encephalitis	HP:0002383
720	C4A	Splenomegaly	HP:0001744
720	C4A	Purpura	HP:0000979
720	C4A	Renal insufficiency	HP:0000083
720	C4A	Increased intracranial pressure	HP:0002516
720	C4A	Glomerulopathy	HP:0100820
720	C4A	Abnormal pyramidal sign	HP:0007256
720	C4A	Arthritis	HP:0001369
720	C4A	Fatigue	HP:0012378
720	C4A	Cutaneous photosensitivity	HP:0000992
720	C4A	Irritability	HP:0000737
720	C4A	Nausea and vomiting	HP:0002017
720	C4A	Papule	HP:0200034
720	C4A	Seizures	HP:0001250
720	C4A	Glomerulonephritis	HP:0000099
720	C4A	Recurrent aphthous stomatitis	HP:0011107
720	C4A	Ataxia	HP:0001251
720	C4A	Abnormal myocardium morphology	HP:0001637
720	C4A	Photophobia	HP:0000613
720	C4A	Immunologic hypersensitivity	HP:0100326
720	C4A	Malabsorption	HP:0002024
720	C4A	Retinopathy	HP:0000488
720	C4A	Endocarditis	HP:0100584
720	C4A	Blindness	HP:0000618
720	C4A	Abdominal pain	HP:0002027
720	C4A	Mitral regurgitation	HP:0001653
720	C4A	Hemiparesis	HP:0001269
720	C4A	Anorexia	HP:0002039
720	C4A	Myocardial infarction	HP:0001658
720	C4A	Aortic regurgitation	HP:0001659
720	C4A	Myalgia	HP:0003326
8912	CACNA1H	Autosomal dominant inheritance	HP:0000006
8912	CACNA1H	Hypertension	HP:0000822
8913	CACNA1G	Saccadic smooth pursuit	HP:0001152
8913	CACNA1G	Clinodactyly	HP:0030084
8913	CACNA1G	Sparse hair	HP:0008070
8913	CACNA1G	Autosomal dominant inheritance	HP:0000006
8913	CACNA1G	Syndactyly	HP:0001159
8913	CACNA1G	Diplopia	HP:0000651
8913	CACNA1G	Urinary urgency	HP:0000012
8913	CACNA1G	Unsteady gait	HP:0002317
8913	CACNA1G	Spastic gait	HP:0002064
8913	CACNA1G	Vertigo	HP:0002321
8913	CACNA1G	Oculomotor apraxia	HP:0000657
8913	CACNA1G	Resting tremor	HP:0002322
8913	CACNA1G	Gait ataxia	HP:0002066
8913	CACNA1G	Urinary incontinence	HP:0000020
8913	CACNA1G	Impaired vibration sensation at ankles	HP:0006938
8913	CACNA1G	Horizontal nystagmus	HP:0000666
8913	CACNA1G	Hypermetropia	HP:0000540
8913	CACNA1G	Dysmetria	HP:0001310
8913	CACNA1G	Babinski sign	HP:0003487
8913	CACNA1G	Impotence	HP:0000802
8913	CACNA1G	Reduced brain N-acetyl aspartate level by MRS	HP:0012708
8913	CACNA1G	Cerebellar hypoplasia	HP:0001321
8913	CACNA1G	Hyperintensity of cerebral white matter on MRI	HP:0030890
8913	CACNA1G	Head tremor	HP:0002346
8913	CACNA1G	Gaze-evoked horizontal nystagmus	HP:0007979
8913	CACNA1G	Mandibular prognathia	HP:0000303
8913	CACNA1G	Dystonia	HP:0001332
8913	CACNA1G	Psoriasiform dermatitis	HP:0003765
8913	CACNA1G	Upper limb postural tremor	HP:0007351
8913	CACNA1G	Tremor	HP:0001337
8913	CACNA1G	Hypometric saccades	HP:0000571
8913	CACNA1G	Hypertelorism	HP:0000316
8913	CACNA1G	Eyelid myokymia	HP:0031166
8913	CACNA1G	Cognitive impairment	HP:0100543
8913	CACNA1G	Spastic ataxia	HP:0002497
8913	CACNA1G	Hyperreflexia	HP:0001347
8913	CACNA1G	Atrophy/Degeneration affecting the brainstem	HP:0007366
8913	CACNA1G	Upslanted palpebral fissure	HP:0000582
8913	CACNA1G	Cerebellar vermis atrophy	HP:0006855
8913	CACNA1G	Depressivity	HP:0000716
8913	CACNA1G	Alzheimer disease	HP:0002511
8913	CACNA1G	Neurodevelopmental abnormality	HP:0012759
8913	CACNA1G	Loss of Purkinje cells in the cerebellar vermis	HP:0007001
8913	CACNA1G	Scoliosis	HP:0002650
8913	CACNA1G	Slow progression	HP:0003677
8913	CACNA1G	Dysphagia	HP:0002015
8913	CACNA1G	Intellectual disability	HP:0001249
8913	CACNA1G	Narrow palpebral fissure	HP:0045025
8913	CACNA1G	Strabismus	HP:0000486
8913	CACNA1G	Spasticity	HP:0001257
8913	CACNA1G	Deeply set eye	HP:0000490
8913	CACNA1G	Dysarthria	HP:0001260
8913	CACNA1G	Inability to walk	HP:0002540
8913	CACNA1G	Global developmental delay	HP:0001263
8913	CACNA1G	Hirsutism	HP:0001007
8913	CACNA1G	Poor head control	HP:0002421
8913	CACNA1G	Cerebellar atrophy	HP:0001272
8913	CACNA1G	Short nose	HP:0003196
721	C4B	Decreased serum complement C4b	HP:0045044
721	C4B	Meningitis	HP:0001287
721	C4B	Chronic active hepatitis	HP:0200120
8915	BCL10	Weight loss	HP:0001824
8915	BCL10	Immunodeficiency	HP:0002721
8915	BCL10	Nausea and vomiting	HP:0002017
8915	BCL10	Pulmonary infiltrates	HP:0002113
8915	BCL10	Seizures	HP:0001250
8915	BCL10	Constipation	HP:0002019
8915	BCL10	Abnormal nasolacrimal system morphology	HP:0000614
8915	BCL10	Autosomal recessive inheritance	HP:0000007
8915	BCL10	Infantile onset	HP:0003593
8915	BCL10	Abdominal pain	HP:0002027
8915	BCL10	Gastric lymphoma	HP:0045038
8915	BCL10	Encephalitis	HP:0002383
8915	BCL10	Anemia	HP:0001903
8915	BCL10	Hyperhidrosis	HP:0000975
8915	BCL10	Mediastinal lymphadenopathy	HP:0100721
8915	BCL10	Abnormality of the thyroid gland	HP:0000820
8915	BCL10	Decreased antibody level in blood	HP:0004313
8915	BCL10	Fever	HP:0001945
8915	BCL10	Visual impairment	HP:0000505
8915	BCL10	Fatigue	HP:0012378
8915	BCL10	Posterior uveitis	HP:0012123
8915	BCL10	Recurrent respiratory infections	HP:0002205
8915	BCL10	Recurrent infections	HP:0002719
8915	BCL10	B-cell lymphoma	HP:0012191
726	CAPN5	Abnormal electroretinogram	HP:0000512
726	CAPN5	Posterior retinal neovascularization	HP:0007778
726	CAPN5	Autosomal dominant inheritance	HP:0000006
726	CAPN5	Uveitis	HP:0000554
726	CAPN5	Blindness	HP:0000618
726	CAPN5	Large hyperpigmented retinal spots	HP:0007658
726	CAPN5	Peripheral retinal neovascularization	HP:0030667
726	CAPN5	Retinal detachment	HP:0000541
726	CAPN5	Vitreoretinopathy	HP:0007773
726	CAPN5	Vitreous hemorrhage	HP:0007902
727	C5	Generalized seborrheic dermatitis	HP:0007569
727	C5	Recurrent meningitis	HP:0006946
727	C5	Autosomal recessive inheritance	HP:0000007
727	C5	Intractable diarrhea	HP:0002041
727	C5	Complement deficiency	HP:0004431
727	C5	Recurrent infections	HP:0002719
123606	NIPA1	Skeletal muscle atrophy	HP:0003202
123606	NIPA1	Insidious onset	HP:0003587
123606	NIPA1	Autosomal dominant inheritance	HP:0000006
123606	NIPA1	Gait disturbance	HP:0001288
123606	NIPA1	Limitation of movement at ankles	HP:0010505
123606	NIPA1	Degeneration of the lateral corticospinal tracts	HP:0002314
123606	NIPA1	Urinary urgency	HP:0000012
123606	NIPA1	Lower limb spasticity	HP:0002061
123606	NIPA1	Spastic gait	HP:0002064
123606	NIPA1	Urinary incontinence	HP:0000020
123606	NIPA1	Generalized tonic-clonic seizures	HP:0002069
123606	NIPA1	Urinary bladder sphincter dysfunction	HP:0002839
123606	NIPA1	Lower limb hyperreflexia	HP:0002395
123606	NIPA1	Progressive	HP:0003676
123606	NIPA1	Babinski sign	HP:0003487
123606	NIPA1	Limited hip movement	HP:0008800
123606	NIPA1	Pes cavus	HP:0001761
123606	NIPA1	Seizures	HP:0001250
123606	NIPA1	Spastic paraplegia	HP:0001258
123606	NIPA1	Lower limb muscle weakness	HP:0007340
123606	NIPA1	Variable expressivity	HP:0003828
123606	NIPA1	Impaired vibration sensation in the lower limbs	HP:0002166
123606	NIPA1	Clonus	HP:0002169
123606	NIPA1	Tremor	HP:0001337
123606	NIPA1	Postural tremor	HP:0002174
123606	NIPA1	Impaired vibratory sensation	HP:0002495
729	C6	Recurrent meningococcal disease	HP:0005381
729	C6	Autosomal recessive inheritance	HP:0000007
729	C6	Complement deficiency	HP:0004431
730	C7	Recurrent meningococcal disease	HP:0005381
730	C7	Autosomal recessive inheritance	HP:0000007
730	C7	Complement deficiency	HP:0004431
731	C8A	C8 deficiency	HP:0004434
731	C8A	Systemic lupus erythematosus	HP:0002725
731	C8A	Autosomal recessive inheritance	HP:0000007
731	C8A	Meningitis	HP:0001287
8924	HERC2	Clinodactyly	HP:0030084
8924	HERC2	Acromicria	HP:0031878
8924	HERC2	Syndactyly	HP:0001159
8924	HERC2	Autosomal recessive inheritance	HP:0000007
8924	HERC2	Infantile onset	HP:0003593
8924	HERC2	Generalized hypotonia	HP:0001290
8924	HERC2	Dolichocephaly	HP:0000268
8924	HERC2	Unsteady gait	HP:0002317
8924	HERC2	Primary amenorrhea	HP:0000786
8924	HERC2	Infertility	HP:0000789
8924	HERC2	Decreased fetal movement	HP:0001558
8924	HERC2	Downturned corners of mouth	HP:0002714
8924	HERC2	Cryptorchidism	HP:0000028
8924	HERC2	Hypermetropia	HP:0000540
8924	HERC2	Recurrent respiratory infections	HP:0002205
8924	HERC2	Carious teeth	HP:0000670
8924	HERC2	Polyphagia	HP:0002591
8924	HERC2	Impaired pain sensation	HP:0007328
8924	HERC2	Sporadic	HP:0003745
8924	HERC2	Myopia	HP:0000545
8924	HERC2	Sleep apnea	HP:0010535
8924	HERC2	Neonatal hypotonia	HP:0001319
8924	HERC2	Genu valgum	HP:0002857
8924	HERC2	Osteopenia	HP:0000938
8924	HERC2	Osteoporosis	HP:0000939
8924	HERC2	Hypogonadotrophic hypogonadism	HP:0000044
8924	HERC2	Scrotal hypoplasia	HP:0000046
8924	HERC2	Mandibular prognathia	HP:0000303
8924	HERC2	Specific learning disability	HP:0001328
8924	HERC2	Iris hypopigmentation	HP:0007730
8924	HERC2	Esotropia	HP:0000565
8924	HERC2	Micropenis	HP:0000054
8924	HERC2	Delayed puberty	HP:0000823
8924	HERC2	Short palm	HP:0004279
8924	HERC2	Growth hormone deficiency	HP:0000824
8924	HERC2	Precocious puberty	HP:0000826
8924	HERC2	Narrow palm	HP:0004283
8924	HERC2	Frontal upsweep of hair	HP:0002236
8924	HERC2	Clitoral hypoplasia	HP:0000060
8924	HERC2	Sandal gap	HP:0001852
8924	HERC2	Narrow palate	HP:0000189
8924	HERC2	Narrow nasal bridge	HP:0000446
8924	HERC2	Hypoplastic labia minora	HP:0000064
8924	HERC2	Almond-shaped palpebral fissure	HP:0007874
8924	HERC2	Psychosis	HP:0000709
8924	HERC2	Upslanted palpebral fissure	HP:0000582
8924	HERC2	Ventriculomegaly	HP:0002119
8924	HERC2	Abdominal obesity	HP:0012743
8924	HERC2	Hyperinsulinemia	HP:0000842
8924	HERC2	Nasal speech	HP:0001611
8924	HERC2	Autism	HP:0000717
8924	HERC2	Plagiocephaly	HP:0001357
8924	HERC2	Adrenal insufficiency	HP:0000846
8924	HERC2	Aggressive behavior	HP:0000718
8924	HERC2	Temperature instability	HP:0005968
8924	HERC2	Narrow forehead	HP:0000341
8924	HERC2	Generalized hypopigmentation	HP:0007513
8924	HERC2	Type II diabetes mellitus	HP:0005978
8924	HERC2	Scoliosis	HP:0002650
8924	HERC2	Thin upper lip vermilion	HP:0000219
8924	HERC2	Hypopigmentation of hair	HP:0005599
8924	HERC2	Cutaneous photosensitivity	HP:0000992
8924	HERC2	Intellectual disability	HP:0001249
8924	HERC2	Seizures	HP:0001250
8924	HERC2	Short stature	HP:0004322
8924	HERC2	Poor fine motor coordination	HP:0007010
8924	HERC2	Strabismus	HP:0000486
8924	HERC2	Self-mutilation	HP:0000742
8924	HERC2	Poor gross motor coordination	HP:0007015
8924	HERC2	Hypoventilation	HP:0002791
8924	HERC2	Hip dysplasia	HP:0001385
8924	HERC2	Attention deficit hyperactivity disorder	HP:0007018
8924	HERC2	Oligomenorrhea	HP:0000876
8924	HERC2	Short foot	HP:0001773
8924	HERC2	Delayed speech and language development	HP:0000750
8924	HERC2	Global developmental delay	HP:0001263
8924	HERC2	Hyperactivity	HP:0000752
8924	HERC2	Poor suck	HP:0002033
8924	HERC2	Diminished ability to concentrate	HP:0031987
8924	HERC2	Small hand	HP:0200055
8924	HERC2	Motor delay	HP:0001270
8924	HERC2	Kyphosis	HP:0002808
8924	HERC2	Radial deviation of finger	HP:0009466
8924	HERC2	Failure to thrive in infancy	HP:0001531
8924	HERC2	Blue irides	HP:0000635
8924	HERC2	Decreased muscle mass	HP:0003199
732	C8B	C8 deficiency	HP:0004434
732	C8B	Recurrent Neisserial infections	HP:0005430
732	C8B	Autosomal recessive inheritance	HP:0000007
732	C8B	Meningitis	HP:0001287
8925	HERC1	Absent speech	HP:0001344
8925	HERC1	Macrocephaly	HP:0000256
8925	HERC1	Triangular face	HP:0000325
8925	HERC1	Upslanted palpebral fissure	HP:0000582
8925	HERC1	Autosomal recessive inheritance	HP:0000007
8925	HERC1	Ventriculomegaly	HP:0002119
8925	HERC1	Cerebral cortical atrophy	HP:0002120
8925	HERC1	Proptosis	HP:0000520
8925	HERC1	Generalized hypotonia	HP:0001290
8925	HERC1	Megalencephaly	HP:0001355
8925	HERC1	Arachnodactyly	HP:0001166
8925	HERC1	Malar flattening	HP:0000272
8925	HERC1	Macrotia	HP:0000400
8925	HERC1	Gait ataxia	HP:0002066
8925	HERC1	Sparse eyebrow	HP:0045075
8925	HERC1	Prominent forehead	HP:0011220
8925	HERC1	Long face	HP:0000276
8925	HERC1	Frontal bossing	HP:0002007
8925	HERC1	Long neck	HP:0000472
8925	HERC1	Large hands	HP:0001176
8925	HERC1	High palate	HP:0000218
8925	HERC1	Scoliosis	HP:0002650
8925	HERC1	Intellectual disability	HP:0001249
8925	HERC1	Tall stature	HP:0000098
8925	HERC1	Seizures	HP:0001250
8925	HERC1	Thick corpus callosum	HP:0007074
8925	HERC1	Pes planus	HP:0001763
8925	HERC1	Posteriorly rotated ears	HP:0000358
8925	HERC1	Long foot	HP:0001833
8925	HERC1	Prominent nasal bridge	HP:0000426
8925	HERC1	Hyperlordosis	HP:0003307
8925	HERC1	Joint laxity	HP:0001388
8925	HERC1	Downslanted palpebral fissures	HP:0000494
8925	HERC1	Hydrocephalus	HP:0000238
8925	HERC1	Mandibular prognathia	HP:0000303
8925	HERC1	Global developmental delay	HP:0001263
8925	HERC1	Low-set ears	HP:0000369
8925	HERC1	Kyphosis	HP:0002808
8925	HERC1	Cerebellar atrophy	HP:0001272
8925	HERC1	Congenital onset	HP:0003577
8925	HERC1	Hypertelorism	HP:0000316
735	C9	Decreased serum complement C9	HP:0012308
8928	FOXH1	Short philtrum	HP:0000322
8928	FOXH1	EMG: myopathic abnormalities	HP:0003458
8928	FOXH1	Hemangioma	HP:0001028
8928	FOXH1	Choanal atresia	HP:0000453
8928	FOXH1	Duodenal atresia	HP:0002247
8928	FOXH1	Maternal diabetes	HP:0009800
8928	FOXH1	Anteverted nares	HP:0000463
8928	FOXH1	Holoprosencephaly	HP:0001360
8928	FOXH1	Midnasal stenosis	HP:0010644
8928	FOXH1	Premature birth	HP:0001622
8928	FOXH1	Hypotelorism	HP:0000601
8928	FOXH1	Scoliosis	HP:0002650
8928	FOXH1	Hypoplasia of penis	HP:0008736
8928	FOXH1	Intellectual disability	HP:0001249
8928	FOXH1	Short stature	HP:0004322
8928	FOXH1	Seizures	HP:0001250
8928	FOXH1	Iris coloboma	HP:0000612
8928	FOXH1	Tetralogy of Fallot	HP:0001636
8928	FOXH1	Strabismus	HP:0000486
8928	FOXH1	Panhypopituitarism	HP:0000871
8928	FOXH1	Intrauterine growth retardation	HP:0001511
8928	FOXH1	Renal agenesis	HP:0000104
8928	FOXH1	Single median maxillary incisor	HP:0006315
8928	FOXH1	Cleft palate	HP:0000175
8928	FOXH1	Asthma	HP:0002099
8928	FOXH1	Tented upper lip vermilion	HP:0010804
8928	FOXH1	Hypothyroidism	HP:0000821
8928	FOXH1	Cyclopia	HP:0009914
8928	FOXH1	Agenesis of corpus callosum	HP:0001274
8928	FOXH1	Short nose	HP:0003196
8928	FOXH1	Microcephaly	HP:0000252
8928	FOXH1	Narrow nasal bridge	HP:0000446
8928	FOXH1	Ambiguous genitalia	HP:0000062
8929	PHOX2B	Hypercapnia	HP:0012416
8929	PHOX2B	Feeding difficulties	HP:0011968
8929	PHOX2B	Hypoxemia	HP:0012418
8929	PHOX2B	Breathing dysregulation	HP:0005957
8929	PHOX2B	Autosomal dominant inheritance	HP:0000006
8929	PHOX2B	Central hypoventilation	HP:0007110
8929	PHOX2B	Elevated urinary catecholamines	HP:0011976
8929	PHOX2B	Aganglionic megacolon	HP:0002251
8929	PHOX2B	Hyperhidrosis	HP:0000975
8929	PHOX2B	Abnormality of temperature regulation	HP:0004370
8929	PHOX2B	Decreased fetal movement	HP:0001558
8929	PHOX2B	Neoplasm of the nervous system	HP:0004375
8929	PHOX2B	Sensorineural hearing impairment	HP:0000407
8929	PHOX2B	Abnormality of the mouth	HP:0000153
8929	PHOX2B	Polyhydramnios	HP:0001561
8929	PHOX2B	Abnormality of the cardiovascular system	HP:0001626
8929	PHOX2B	Oligohydramnios	HP:0001562
8929	PHOX2B	Ganglioneuroblastoma	HP:0006747
8929	PHOX2B	Arrhythmia	HP:0011675
8929	PHOX2B	Intellectual disability	HP:0001249
8929	PHOX2B	Seizures	HP:0001250
8929	PHOX2B	Constipation	HP:0002019
8929	PHOX2B	Muscular hypotonia	HP:0001252
8929	PHOX2B	Failure to thrive	HP:0001508
8929	PHOX2B	Gastroesophageal reflux	HP:0002020
8929	PHOX2B	Posteriorly rotated ears	HP:0000358
8929	PHOX2B	Strabismus	HP:0000486
8929	PHOX2B	Hypoventilation	HP:0002791
8929	PHOX2B	Abnormal pupil morphology	HP:0000615
8929	PHOX2B	Central sleep apnea	HP:0010536
8929	PHOX2B	Abnormal autonomic nervous system physiology	HP:0012332
8929	PHOX2B	Respiratory insufficiency	HP:0002093
8929	PHOX2B	Downslanted palpebral fissures	HP:0000494
8929	PHOX2B	Small for gestational age	HP:0001518
8929	PHOX2B	Low-set ears	HP:0000369
8929	PHOX2B	Death in infancy	HP:0001522
8929	PHOX2B	Apnea	HP:0002104
8929	PHOX2B	Prolonged QT interval	HP:0001657
8929	PHOX2B	Ganglioneuroma	HP:0003005
8929	PHOX2B	Cognitive impairment	HP:0100543
8929	PHOX2B	Neuroblastoma	HP:0003006
221927	BRAT1	Delayed ability to walk	HP:0031936
221927	BRAT1	Absent speech	HP:0001344
221927	BRAT1	Feeding difficulties	HP:0011968
221927	BRAT1	Truncal titubation	HP:0030147
221927	BRAT1	Hyperreflexia	HP:0001347
221927	BRAT1	Autosomal recessive inheritance	HP:0000007
221927	BRAT1	Optic atrophy	HP:0000648
221927	BRAT1	Agitation	HP:0000713
221927	BRAT1	Generalized myoclonic seizures	HP:0002123
221927	BRAT1	Rigidity	HP:0002063
221927	BRAT1	Gait ataxia	HP:0002066
221927	BRAT1	Long philtrum	HP:0000343
221927	BRAT1	High palate	HP:0000218
221927	BRAT1	Micrognathia	HP:0000347
221927	BRAT1	Myoclonic spasms	HP:0003739
221927	BRAT1	Flexion contracture	HP:0001371
221927	BRAT1	Broad face	HP:0000283
221927	BRAT1	Progressive	HP:0003676
221927	BRAT1	Epicanthus	HP:0000286
221927	BRAT1	Dysmetria	HP:0001310
221927	BRAT1	Babinski sign	HP:0003487
221927	BRAT1	Hypoplasia of the corpus callosum	HP:0002079
221927	BRAT1	Delayed myelination	HP:0012448
221927	BRAT1	Neuronal loss in central nervous system	HP:0002529
221927	BRAT1	Intellectual disability	HP:0001249
221927	BRAT1	Seizures	HP:0001250
221927	BRAT1	Thin vermilion border	HP:0000233
221927	BRAT1	Abnormal autonomic nervous system physiology	HP:0012332
221927	BRAT1	Global developmental delay	HP:0001263
221927	BRAT1	Clinodactyly of the 5th finger	HP:0004209
221927	BRAT1	Death in infancy	HP:0001522
221927	BRAT1	Tented upper lip vermilion	HP:0010804
221927	BRAT1	Apnea	HP:0002104
221927	BRAT1	Cerebellar atrophy	HP:0001272
221927	BRAT1	Clonus	HP:0002169
221927	BRAT1	Visual impairment	HP:0000505
221927	BRAT1	Gliosis	HP:0002171
221927	BRAT1	Hypertonia	HP:0001276
221927	BRAT1	Microcephaly	HP:0000252
221927	BRAT1	Progressive microcephaly	HP:0000253
221927	BRAT1	Multifocal seizures	HP:0031165
221927	BRAT1	Bradycardia	HP:0001662
221927	BRAT1	Nystagmus	HP:0000639
745	MYRF	Seizures	HP:0001250
745	MYRF	Intestinal malrotation	HP:0002566
745	MYRF	Pulmonary hypoplasia	HP:0002089
745	MYRF	Patent ductus arteriosus	HP:0001643
745	MYRF	Dysplastic tricuspid valve	HP:0030732
745	MYRF	Delayed speech and language development	HP:0000750
745	MYRF	Bifid scrotum	HP:0000048
745	MYRF	Hepatopulmonary fusion	HP:0410259
745	MYRF	Micropenis	HP:0000054
745	MYRF	Cryptorchidism	HP:0000028
745	MYRF	Bronchomalacia	HP:0002780
745	MYRF	Ventricular septal defect	HP:0001629
745	MYRF	Ambiguous genitalia	HP:0000062
123624	AGBL1	Autosomal dominant inheritance	HP:0000006
123624	AGBL1	Corneal dystrophy	HP:0001131
8942	KYNU	Abnormality of the musculature	HP:0003011
8942	KYNU	Breathing dysregulation	HP:0005957
8942	KYNU	Autosomal recessive inheritance	HP:0000007
8942	KYNU	Headache	HP:0002315
8942	KYNU	Psychomotor retardation	HP:0025356
8942	KYNU	Abnormal circulating tryptophan concentration	HP:0004365
8942	KYNU	Chronic kidney disease	HP:0012622
8942	KYNU	Congenital sensorineural hearing impairment	HP:0008527
8942	KYNU	Encephalopathy	HP:0001298
8942	KYNU	Metabolic acidosis	HP:0001942
8942	KYNU	Frontal bossing	HP:0002007
8942	KYNU	Renal hypoplasia	HP:0000089
8942	KYNU	Renal tubular acidosis	HP:0001947
8942	KYNU	Aminoaciduria	HP:0003355
8942	KYNU	Stereotypy	HP:0000733
8942	KYNU	Hypoplastic left heart	HP:0004383
8942	KYNU	Intellectual disability	HP:0001249
8942	KYNU	Abnormality of the respiratory system	HP:0002086
8942	KYNU	Stomatitis	HP:0010280
8942	KYNU	Coma	HP:0001259
8942	KYNU	Patent ductus arteriosus	HP:0001643
8942	KYNU	Hearing impairment	HP:0000365
8942	KYNU	Global developmental delay	HP:0001263
8942	KYNU	Tachycardia	HP:0001649
8942	KYNU	Nonprogressive encephalopathy	HP:0007030
8942	KYNU	Hypotension	HP:0002615
8942	KYNU	Hemivertebrae	HP:0002937
8942	KYNU	Hypertonia	HP:0001276
8942	KYNU	Microcephaly	HP:0000252
8942	KYNU	Renal tubular dysfunction	HP:0000124
8942	KYNU	Dry skin	HP:0000958
8943	AP3D1	Feeding difficulties	HP:0011968
8943	AP3D1	Hepatomegaly	HP:0002240
8943	AP3D1	Interstitial pulmonary abnormality	HP:0006530
8943	AP3D1	Autosomal recessive inheritance	HP:0000007
8943	AP3D1	Infantile onset	HP:0003593
8943	AP3D1	Generalized hypotonia	HP:0001290
8943	AP3D1	Cerebral atrophy	HP:0002059
8943	AP3D1	Generalized myoclonic seizures	HP:0002123
8943	AP3D1	Splenomegaly	HP:0001744
8943	AP3D1	Macrotia	HP:0000400
8943	AP3D1	Ocular albinism	HP:0001107
8943	AP3D1	Neutropenia	HP:0001875
8943	AP3D1	Generalized tonic-clonic seizures	HP:0002069
8943	AP3D1	Retrognathia	HP:0000278
8943	AP3D1	Nyctalopia	HP:0000662
8943	AP3D1	Hypotelorism	HP:0000601
8943	AP3D1	Recurrent respiratory infections	HP:0002205
8943	AP3D1	Delayed myelination	HP:0012448
8943	AP3D1	Immunodeficiency	HP:0002721
8943	AP3D1	Astigmatism	HP:0000483
8943	AP3D1	Photophobia	HP:0000613
8943	AP3D1	Strabismus	HP:0000486
8943	AP3D1	Muscular hypotonia of the trunk	HP:0008936
8943	AP3D1	Miosis	HP:0000616
8943	AP3D1	EEG abnormality	HP:0002353
8943	AP3D1	Low-set ears	HP:0000369
8943	AP3D1	Dystonia	HP:0001332
8943	AP3D1	Visual impairment	HP:0000505
8943	AP3D1	Aplasia/Hypoplasia of the macula	HP:0008059
8943	AP3D1	Microcephaly	HP:0000252
8943	AP3D1	Nystagmus	HP:0000639
8943	AP3D1	Smooth philtrum	HP:0000319
8945	BTRC	Absent hand	HP:0004050
8945	BTRC	Split hand	HP:0001171
8945	BTRC	Finger syndactyly	HP:0006101
8945	BTRC	Oligodactyly	HP:0012165
8945	BTRC	Sensorineural hearing impairment	HP:0000407
8945	BTRC	Aniridia	HP:0000526
755	CFAP410	Short femoral neck	HP:0100864
755	CFAP410	Skeletal muscle atrophy	HP:0003202
755	CFAP410	Muscle spasm	HP:0003394
755	CFAP410	Recurrent pneumonia	HP:0006532
755	CFAP410	Neurodegeneration	HP:0002180
755	CFAP410	Autosomal recessive inheritance	HP:0000007
755	CFAP410	Optic atrophy	HP:0000648
755	CFAP410	Emotional lability	HP:0000712
755	CFAP410	Thoracic hypoplasia	HP:0005257
755	CFAP410	Rhizomelia	HP:0008905
755	CFAP410	Agitation	HP:0000713
755	CFAP410	Anterior rib cupping	HP:0000907
755	CFAP410	Depressivity	HP:0000716
755	CFAP410	Paralysis	HP:0003470
755	CFAP410	Laryngospasm	HP:0025425
755	CFAP410	Proximal femoral metaphyseal irregularity	HP:0003411
755	CFAP410	Nyctalopia	HP:0000662
755	CFAP410	Xerostomia	HP:0000217
755	CFAP410	Fatigue	HP:0012378
755	CFAP410	Central scotoma	HP:0000603
755	CFAP410	Platyspondyly	HP:0000926
755	CFAP410	Spondylometaphyseal dysplasia	HP:0002657
755	CFAP410	Nausea and vomiting	HP:0002017
755	CFAP410	Retinal degeneration	HP:0000546
755	CFAP410	Short stature	HP:0004322
755	CFAP410	Anxiety	HP:0000739
755	CFAP410	Photophobia	HP:0000613
755	CFAP410	Spasticity	HP:0001257
755	CFAP410	Retinal dystrophy	HP:0000556
755	CFAP410	Dyspnea	HP:0002094
755	CFAP410	Narrow greater sacrosciatic notches	HP:0003375
755	CFAP410	Nuclear cataract	HP:0100018
755	CFAP410	Fatigable weakness of swallowing muscles	HP:0030195
755	CFAP410	Pain	HP:0012531
755	CFAP410	Fatigable weakness of respiratory muscles	HP:0030196
755	CFAP410	Amyotrophic lateral sclerosis	HP:0007354
755	CFAP410	Coxa vara	HP:0002812
755	CFAP410	Generalized muscle weakness	HP:0003324
755	CFAP410	Rod-cone dystrophy	HP:0000510
755	CFAP410	Respiratory failure	HP:0002878
755	CFAP410	Nystagmus	HP:0000639
760	CA2	Hepatomegaly	HP:0002240
760	CA2	Avascular necrosis	HP:0010885
760	CA2	Recurrent fractures	HP:0002757
760	CA2	Autosomal recessive inheritance	HP:0000007
760	CA2	Optic atrophy	HP:0000648
760	CA2	Elevated serum acid phosphatase	HP:0003148
760	CA2	Splenomegaly	HP:0001744
760	CA2	Thrombocytopenia	HP:0001873
760	CA2	Cerebral calcification	HP:0002514
760	CA2	Abnormality of dental morphology	HP:0006482
760	CA2	Distal renal tubular acidosis	HP:0008341
760	CA2	Cranial hyperostosis	HP:0004437
760	CA2	Basal ganglia calcification	HP:0002135
760	CA2	Periodic hypokalemic paresis	HP:0008153
760	CA2	Hepatosplenomegaly	HP:0001433
760	CA2	Diaphyseal sclerosis	HP:0003034
760	CA2	Abnormal renal tubule morphology	HP:0000091
760	CA2	Bone pain	HP:0002653
760	CA2	Carious teeth	HP:0000670
760	CA2	Intellectual disability	HP:0001249
760	CA2	Short stature	HP:0004322
760	CA2	Failure to thrive	HP:0001508
760	CA2	Peripheral neuropathy	HP:0009830
760	CA2	Genu valgum	HP:0002857
760	CA2	Abnormality of epiphysis morphology	HP:0005930
760	CA2	Anemia	HP:0001903
760	CA2	Global developmental delay	HP:0001263
760	CA2	Mandibular prognathia	HP:0000303
760	CA2	Dental malocclusion	HP:0000689
760	CA2	Visual impairment	HP:0000505
760	CA2	Extramedullary hematopoiesis	HP:0001978
760	CA2	Osteopetrosis	HP:0011002
760	CA2	Visual loss	HP:0000572
760	CA2	Reduced bone mineral density	HP:0004349
760	CA2	Optic nerve compression	HP:0007807
762	CA4	Abnormal electroretinogram	HP:0000512
762	CA4	Hyperreflexia	HP:0001347
762	CA4	Cataract	HP:0000518
762	CA4	Autosomal dominant inheritance	HP:0000006
762	CA4	Hypogonadism	HP:0000135
762	CA4	Optic atrophy	HP:0000648
762	CA4	Hyperinsulinemia	HP:0000842
762	CA4	Anteverted nares	HP:0000463
762	CA4	Conductive hearing impairment	HP:0000405
762	CA4	Nyctalopia	HP:0000662
762	CA4	Sensorineural hearing impairment	HP:0000407
762	CA4	Abnormality of retinal pigmentation	HP:0007703
762	CA4	Ophthalmoplegia	HP:0000602
762	CA4	Type II diabetes mellitus	HP:0005978
762	CA4	Atypical scarring of skin	HP:0000987
762	CA4	Hypoplasia of penis	HP:0008736
762	CA4	Intellectual disability	HP:0001249
762	CA4	Abnormal testis morphology	HP:0000035
762	CA4	Photophobia	HP:0000613
762	CA4	Color vision defect	HP:0000551
762	CA4	Obesity	HP:0001513
762	CA4	Blindness	HP:0000618
762	CA4	Abnormal retinal vascular morphology	HP:0008046
762	CA4	Wide nasal bridge	HP:0000431
762	CA4	Keratoconus	HP:0000563
762	CA4	Glaucoma	HP:0000501
762	CA4	Bone spicule pigmentation of the retina	HP:0007737
762	CA4	Progressive night blindness	HP:0007675
762	CA4	Rod-cone dystrophy	HP:0000510
762	CA4	Nystagmus	HP:0000639
763	CA5A	Hyperammonemia	HP:0001987
763	CA5A	Tachypnea	HP:0002789
763	CA5A	Lethargy	HP:0001254
763	CA5A	Ketonuria	HP:0002919
763	CA5A	Increased serum lactate	HP:0002151
763	CA5A	Autosomal recessive inheritance	HP:0000007
763	CA5A	Ketoacidosis	HP:0001993
763	CA5A	Global developmental delay	HP:0001263
763	CA5A	Hyperalaninemia	HP:0003348
763	CA5A	Variable expressivity	HP:0003828
763	CA5A	Metabolic acidosis	HP:0001942
763	CA5A	Hypoglycemia	HP:0001943
763	CA5A	Lactic acidosis	HP:0003128
763	CA5A	Respiratory alkalosis	HP:0001950
767	CA8	Intellectual disability	HP:0001249
767	CA8	Skeletal muscle atrophy	HP:0003202
767	CA8	Short stature	HP:0004322
767	CA8	Seizures	HP:0001250
767	CA8	Hyperreflexia	HP:0001347
767	CA8	Ataxia	HP:0001251
767	CA8	Muscular hypotonia	HP:0001252
767	CA8	Strabismus	HP:0000486
767	CA8	Cataract	HP:0000518
767	CA8	Slurred speech	HP:0001350
767	CA8	Autosomal recessive inheritance	HP:0000007
767	CA8	Gait disturbance	HP:0001288
767	CA8	Intellectual disability, mild	HP:0001256
767	CA8	Dysarthria	HP:0001260
767	CA8	Cerebral palsy	HP:0100021
767	CA8	Abnormality of vision	HP:0000504
767	CA8	Congenital onset	HP:0003577
767	CA8	Tremor	HP:0001337
140032	RPS4Y2	Y-linked inheritance	HP:0001450
140032	RPS4Y2	Azoospermia	HP:0000027
771	CA12	Feeding difficulties	HP:0011968
771	CA12	Abnormality of metabolism/homeostasis	HP:0001939
771	CA12	Failure to thrive	HP:0001508
771	CA12	Hyponatremia	HP:0002902
771	CA12	Autosomal dominant inheritance	HP:0000006
771	CA12	Autosomal recessive inheritance	HP:0000007
771	CA12	Dehydration	HP:0001944
771	CA12	Infantile onset	HP:0003593
771	CA12	Hyperkalemia	HP:0002153
773	CACNA1A	Athetosis	HP:0002305
773	CACNA1A	Autosomal dominant inheritance	HP:0000006
773	CACNA1A	Incoordination	HP:0002311
773	CACNA1A	Confusion	HP:0001289
773	CACNA1A	Generalized hypotonia	HP:0001290
773	CACNA1A	Cerebral atrophy	HP:0002059
773	CACNA1A	Unsteady gait	HP:0002317
773	CACNA1A	Rigidity	HP:0002063
773	CACNA1A	Vertigo	HP:0002321
773	CACNA1A	Encephalopathy	HP:0001298
773	CACNA1A	Gait ataxia	HP:0002066
773	CACNA1A	Decreased fetal movement	HP:0001558
773	CACNA1A	Hemiplegia/hemiparesis	HP:0004374
773	CACNA1A	Drowsiness	HP:0002329
773	CACNA1A	Progressive cerebellar ataxia	HP:0002073
773	CACNA1A	Migraine	HP:0002076
773	CACNA1A	Migraine with aura	HP:0002077
773	CACNA1A	Intention tremor	HP:0002080
773	CACNA1A	Retinal degeneration	HP:0000546
773	CACNA1A	Gaze-evoked horizontal nystagmus	HP:0007979
773	CACNA1A	Muscle weakness	HP:0001324
773	CACNA1A	Bradyopsia	HP:0030511
773	CACNA1A	Vertical nystagmus	HP:0010544
773	CACNA1A	EEG abnormality	HP:0002353
773	CACNA1A	Downbeat nystagmus	HP:0010545
773	CACNA1A	Difficulty walking	HP:0002355
773	CACNA1A	Dystonia	HP:0001332
773	CACNA1A	Dysphasia	HP:0002357
773	CACNA1A	Dyskinesia	HP:0100660
773	CACNA1A	Esotropia	HP:0000565
773	CACNA1A	Myoclonus	HP:0001336
773	CACNA1A	Tremor	HP:0001337
773	CACNA1A	Auditory hallucinations	HP:0008765
773	CACNA1A	Visual hallucinations	HP:0002367
773	CACNA1A	Hyperreflexia	HP:0001347
773	CACNA1A	Pigmentary retinopathy	HP:0000580
773	CACNA1A	Developmental regression	HP:0002376
773	CACNA1A	Paresthesia	HP:0003401
773	CACNA1A	Episodic ataxia	HP:0002131
773	CACNA1A	Status epilepticus	HP:0002133
773	CACNA1A	Flexion contracture	HP:0001371
773	CACNA1A	High forehead	HP:0000348
773	CACNA1A	EEG with multifocal slow activity	HP:0010844
773	CACNA1A	Progressive	HP:0003676
773	CACNA1A	Impaired smooth pursuit	HP:0007772
773	CACNA1A	Transient unilateral blurring of vision	HP:0001125
773	CACNA1A	Impulsivity	HP:0100710
773	CACNA1A	Tinnitus	HP:0000360
773	CACNA1A	Attention deficit hyperactivity disorder	HP:0007018
773	CACNA1A	Poor head control	HP:0002421
773	CACNA1A	Choking episodes	HP:0030842
773	CACNA1A	Postural instability	HP:0002172
773	CACNA1A	Nystagmus	HP:0000639
773	CACNA1A	Gaze-evoked nystagmus	HP:0000640
773	CACNA1A	Saccadic smooth pursuit	HP:0001152
773	CACNA1A	Blepharospasm	HP:0000643
773	CACNA1A	Optic atrophy	HP:0000648
773	CACNA1A	Dyscalculia	HP:0002442
773	CACNA1A	Diplopia	HP:0000651
773	CACNA1A	Heterogeneous	HP:0001425
773	CACNA1A	Sensorineural hearing impairment	HP:0000407
773	CACNA1A	Fever	HP:0001945
773	CACNA1A	Abnormal head movements	HP:0002457
773	CACNA1A	Hypodontia	HP:0000668
773	CACNA1A	Abnormal myelination	HP:0012447
773	CACNA1A	Genetic anticipation	HP:0003743
773	CACNA1A	Babinski sign	HP:0003487
773	CACNA1A	Myotonia	HP:0002486
773	CACNA1A	Abnormality of movement	HP:0100022
773	CACNA1A	Feeding difficulties	HP:0011968
773	CACNA1A	Behavioral abnormality	HP:0000708
773	CACNA1A	Psychosis	HP:0000709
773	CACNA1A	Epileptic encephalopathy	HP:0200134
773	CACNA1A	Cerebellar vermis atrophy	HP:0006855
773	CACNA1A	Agitation	HP:0000713
773	CACNA1A	Limb hypertonia	HP:0002509
773	CACNA1A	Autism	HP:0000717
773	CACNA1A	Pallor	HP:0000980
773	CACNA1A	Vestibular dysfunction	HP:0001751
773	CACNA1A	Torticollis	HP:0000473
773	CACNA1A	Hypsarrhythmia	HP:0002521
773	CACNA1A	Vomiting	HP:0002013
773	CACNA1A	Dysphagia	HP:0002015
773	CACNA1A	Irritability	HP:0000737
773	CACNA1A	Intellectual disability	HP:0001249
773	CACNA1A	Nausea and vomiting	HP:0002017
773	CACNA1A	Seizures	HP:0001250
773	CACNA1A	Short stature	HP:0004322
773	CACNA1A	Anxiety	HP:0000739
773	CACNA1A	Ataxia	HP:0001251
773	CACNA1A	Gastroesophageal reflux	HP:0002020
773	CACNA1A	Failure to thrive	HP:0001508
773	CACNA1A	Apathy	HP:0000741
773	CACNA1A	Spasticity	HP:0001257
773	CACNA1A	Coma	HP:0001259
773	CACNA1A	Dysarthria	HP:0001260
773	CACNA1A	Downslanted palpebral fissures	HP:0000494
773	CACNA1A	Delayed speech and language development	HP:0000750
773	CACNA1A	Global developmental delay	HP:0001263
773	CACNA1A	Hyporeflexia	HP:0001265
773	CACNA1A	Mental deterioration	HP:0001268
773	CACNA1A	Hemiparesis	HP:0001269
773	CACNA1A	Incomplete penetrance	HP:0003829
773	CACNA1A	Abnormal vestibulo-ocular reflex	HP:0007670
773	CACNA1A	Cerebellar atrophy	HP:0001272
773	CACNA1A	Abnormality of vision	HP:0000504
773	CACNA1A	Abnormal corpus callosum morphology	HP:0001273
773	CACNA1A	Sensory neuropathy	HP:0000763
773	CACNA1A	Microcephaly	HP:0000252
773	CACNA1A	Ptosis	HP:0000508
773	CACNA1A	Hypertonia	HP:0001276
773	CACNA1A	Hemiplegia	HP:0002301
774	CACNA1B	Axial dystonia	HP:0002530
774	CACNA1B	Autosomal dominant inheritance	HP:0000006
774	CACNA1B	Cerebral cortical atrophy	HP:0002120
774	CACNA1B	Gait disturbance	HP:0001288
774	CACNA1B	Head tremor	HP:0002346
774	CACNA1B	Dysphonia	HP:0001618
774	CACNA1B	Limb dystonia	HP:0002451
774	CACNA1B	Writer's cramp	HP:0002356
774	CACNA1B	Cerebellar atrophy	HP:0001272
774	CACNA1B	Myoclonus	HP:0001336
774	CACNA1B	Torticollis	HP:0000473
774	CACNA1B	Arrhythmia	HP:0011675
774	CACNA1B	Progressive	HP:0003676
774	CACNA1B	Adult onset	HP:0003581
775	CACNA1C	Autosomal dominant inheritance	HP:0000006
775	CACNA1C	Syndactyly	HP:0001159
775	CACNA1C	Shortened QT interval	HP:0012232
775	CACNA1C	Generalized hypotonia	HP:0001290
775	CACNA1C	Autism	HP:0000717
775	CACNA1C	Ventricular arrhythmia	HP:0004308
775	CACNA1C	Hypocalcemia	HP:0002901
775	CACNA1C	Hypoglycemia	HP:0001943
775	CACNA1C	Thin upper lip vermilion	HP:0000219
775	CACNA1C	Ventricular septal defect	HP:0001629
775	CACNA1C	Recurrent infections	HP:0002719
775	CACNA1C	Depressed nasal bridge	HP:0005280
775	CACNA1C	Intellectual disability	HP:0001249
775	CACNA1C	Seizures	HP:0001250
775	CACNA1C	Bronchitis	HP:0012387
775	CACNA1C	Sudden death	HP:0001699
775	CACNA1C	Tetralogy of Fallot	HP:0001636
775	CACNA1C	Cardiomegaly	HP:0001640
775	CACNA1C	Pneumonia	HP:0002090
775	CACNA1C	Patent ductus arteriosus	HP:0001643
775	CACNA1C	Sudden cardiac death	HP:0001645
775	CACNA1C	Global developmental delay	HP:0001263
775	CACNA1C	J wave	HP:0012272
775	CACNA1C	Microdontia	HP:0000691
775	CACNA1C	Hypothyroidism	HP:0000821
775	CACNA1C	Cutaneous syndactyly	HP:0012725
775	CACNA1C	Atrial fibrillation	HP:0005110
775	CACNA1C	Round face	HP:0000311
775	CACNA1C	Patent foramen ovale	HP:0001655
775	CACNA1C	Prolonged QT interval	HP:0001657
775	CACNA1C	Bradycardia	HP:0001662
775	CACNA1C	Syncope	HP:0001279
776	CACNA1D	Athetosis	HP:0002305
776	CACNA1D	Biventricular hypertrophy	HP:0200128
776	CACNA1D	Autosomal dominant inheritance	HP:0000006
776	CACNA1D	Autosomal recessive inheritance	HP:0000007
776	CACNA1D	Headache	HP:0002315
776	CACNA1D	Spastic tetraplegia	HP:0002510
776	CACNA1D	Focal impaired awareness seizure	HP:0002384
776	CACNA1D	Caesarian section	HP:0011410
776	CACNA1D	Nephrolithiasis	HP:0000787
776	CACNA1D	Hypokalemia	HP:0002900
776	CACNA1D	Abnormal circulating renin	HP:0040084
776	CACNA1D	Generalized tonic-clonic seizures	HP:0002069
776	CACNA1D	Decreased circulating renin level	HP:0003351
776	CACNA1D	Hyperaldosteronism	HP:0000859
776	CACNA1D	Adrenal hyperplasia	HP:0008221
776	CACNA1D	Ventricular septal defect	HP:0001629
776	CACNA1D	Focal myoclonic seizures	HP:0011166
776	CACNA1D	Cerebral visual impairment	HP:0100704
776	CACNA1D	Nausea	HP:0002018
776	CACNA1D	Epistaxis	HP:0000421
776	CACNA1D	Polydipsia	HP:0001959
776	CACNA1D	Tinnitus	HP:0000360
776	CACNA1D	Spastic paraplegia	HP:0001258
776	CACNA1D	Pulmonary arterial hypertension	HP:0002092
776	CACNA1D	Hearing impairment	HP:0000365
776	CACNA1D	Global developmental delay	HP:0001263
776	CACNA1D	Intellectual disability, severe	HP:0010864
776	CACNA1D	Left ventricular hypertrophy	HP:0001712
776	CACNA1D	Metabolic alkalosis	HP:0200114
776	CACNA1D	Ventricular hypertrophy	HP:0001714
776	CACNA1D	Cerebral palsy	HP:0100021
776	CACNA1D	Hypertension	HP:0000822
776	CACNA1D	Patent foramen ovale	HP:0001655
776	CACNA1D	Intracranial hemorrhage	HP:0002170
776	CACNA1D	Second degree atrioventricular block	HP:0011706
776	CACNA1D	EMG: impaired neuromuscular transmission	HP:0100285
776	CACNA1D	Bradycardia	HP:0001662
777	CACNA1E	Absent speech	HP:0001344
777	CACNA1E	Cerebral visual impairment	HP:0100704
777	CACNA1E	Hyperreflexia	HP:0001347
777	CACNA1E	Epileptic encephalopathy	HP:0200134
777	CACNA1E	Cerebral cortical atrophy	HP:0002120
777	CACNA1E	Muscular hypotonia of the trunk	HP:0008936
777	CACNA1E	Corpus callosum atrophy	HP:0007371
777	CACNA1E	Inability to walk	HP:0002540
777	CACNA1E	Spastic tetraplegia	HP:0002510
777	CACNA1E	Arthrogryposis multiplex congenita	HP:0002804
777	CACNA1E	Dystonia	HP:0001332
777	CACNA1E	Status epilepticus	HP:0002133
777	CACNA1E	Myoclonus	HP:0001336
777	CACNA1E	Hypsarrhythmia	HP:0002521
777	CACNA1E	Nystagmus	HP:0000639
778	CACNA1F	Abnormal electroretinogram	HP:0000512
778	CACNA1F	Abnormality of macular pigmentation	HP:0008002
778	CACNA1F	Abnormal light- and dark-adapted electroretinogram	HP:0008323
778	CACNA1F	Hypoplasia of the fovea	HP:0007750
778	CACNA1F	X-linked inheritance	HP:0001417
778	CACNA1F	X-linked recessive inheritance	HP:0001419
778	CACNA1F	Heterogeneous	HP:0001425
778	CACNA1F	Abnormality of metabolism/homeostasis	HP:0001939
778	CACNA1F	Nyctalopia	HP:0000662
778	CACNA1F	Optic disc hypoplasia	HP:0007766
778	CACNA1F	Hypopigmentation of the fundus	HP:0007894
778	CACNA1F	Abnormality of retinal pigmentation	HP:0007703
778	CACNA1F	Congenital stationary night blindness	HP:0007642
778	CACNA1F	Central scotoma	HP:0000603
778	CACNA1F	Retinal detachment	HP:0000541
778	CACNA1F	Optic disc pallor	HP:0000543
778	CACNA1F	Myopia	HP:0000545
778	CACNA1F	Astigmatism	HP:0000483
778	CACNA1F	Cone/cone-rod dystrophy	HP:0000548
778	CACNA1F	Photophobia	HP:0000613
778	CACNA1F	Strabismus	HP:0000486
778	CACNA1F	Color vision defect	HP:0000551
778	CACNA1F	Absent foveal reflex	HP:0030825
778	CACNA1F	Reduced visual acuity	HP:0007663
778	CACNA1F	Difficulty adjusting from light to dark	HP:0030513
778	CACNA1F	Severely reduced visual acuity	HP:0001141
778	CACNA1F	Visual impairment	HP:0000505
778	CACNA1F	High myopia	HP:0011003
778	CACNA1F	Albinism	HP:0001022
778	CACNA1F	Nystagmus	HP:0000639
779	CACNA1S	Hypercapnia	HP:0012416
779	CACNA1S	EMG abnormality	HP:0003457
779	CACNA1S	Rhabdomyolysis	HP:0003201
779	CACNA1S	Autosomal dominant inheritance	HP:0000006
779	CACNA1S	Thyrotoxicosis with toxic multinodular goitre	HP:0011785
779	CACNA1S	Thyrotoxicosis with toxic single thyroid nodule	HP:0011786
779	CACNA1S	Elevated creatine kinase after exercise	HP:0008331
779	CACNA1S	Tetraplegia	HP:0002445
779	CACNA1S	Urinary retention	HP:0000016
779	CACNA1S	Necrotizing myopathy	HP:0008978
779	CACNA1S	Supraventricular tachycardia	HP:0004755
779	CACNA1S	Ventricular tachycardia	HP:0004756
779	CACNA1S	Metabolic acidosis	HP:0001942
779	CACNA1S	Fever	HP:0001945
779	CACNA1S	Ventricular extrasystoles	HP:0006682
779	CACNA1S	Acute hepatic failure	HP:0006554
779	CACNA1S	Respiratory paralysis	HP:0002203
779	CACNA1S	Weight loss	HP:0001824
779	CACNA1S	Graves disease	HP:0100647
779	CACNA1S	Episodic flaccid weakness	HP:0003752
779	CACNA1S	Palpitations	HP:0001962
779	CACNA1S	Lower limb muscle weakness	HP:0007340
779	CACNA1S	Shortened PR interval	HP:0005165
779	CACNA1S	Episodic hypokalemia	HP:0012726
779	CACNA1S	Abnormality of the coagulation cascade	HP:0003256
779	CACNA1S	Tremor	HP:0001337
779	CACNA1S	Second degree atrioventricular block	HP:0011706
779	CACNA1S	High-output congestive heart failure	HP:0001722
779	CACNA1S	Exercise-induced muscle fatigue	HP:0009020
779	CACNA1S	Intermittent painful muscle spasms	HP:0011964
779	CACNA1S	Adrenocortical adenoma	HP:0008256
779	CACNA1S	Muscle spasm	HP:0003394
779	CACNA1S	Decreased urinary potassium	HP:0012364
779	CACNA1S	Hyperhidrosis	HP:0000975
779	CACNA1S	Increased intramyocellular lipid droplets	HP:0012240
779	CACNA1S	Hypokalemia	HP:0002900
779	CACNA1S	Ophthalmoparesis	HP:0000597
779	CACNA1S	Exercise-induced rhabdomyolysis	HP:0009045
779	CACNA1S	Cardiomyocyte mitochondrial proliferation	HP:0031320
779	CACNA1S	Periodic hypokalemic paresis	HP:0008153
779	CACNA1S	Hyperphosphatemia	HP:0002905
779	CACNA1S	Transient hypophosphatemia	HP:0008285
779	CACNA1S	Postprandial hyperglycemia	HP:0011998
779	CACNA1S	Muscle stiffness	HP:0003552
779	CACNA1S	Myoglobinuria	HP:0002913
779	CACNA1S	Abnormality of skeletal muscles	HP:0040290
779	CACNA1S	Constipation	HP:0002019
779	CACNA1S	Hypomagnesemia	HP:0002917
779	CACNA1S	Tachypnea	HP:0002789
779	CACNA1S	Abnormality of masseter muscle	HP:3000005
779	CACNA1S	Obesity	HP:0001513
779	CACNA1S	Hyperkalemia	HP:0002153
779	CACNA1S	Late-onset proximal muscle weakness	HP:0003694
779	CACNA1S	Acute rhabdomyolysis	HP:0008942
779	CACNA1S	Hyporeflexia	HP:0001265
779	CACNA1S	Fatigable weakness of respiratory muscles	HP:0030196
779	CACNA1S	Mildly elevated creatine kinase	HP:0008180
779	CACNA1S	Incomplete penetrance	HP:0003829
779	CACNA1S	Prolonged QT interval	HP:0001657
779	CACNA1S	Myopathy	HP:0003198
779	CACNA1S	Ventricular fibrillation	HP:0001663
779	CACNA1S	Acute kidney injury	HP:0001919
779	CACNA1S	Malignant hyperthermia	HP:0002047
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	Bradycardia	HP:0001662
781	CACNA2D1	Atrioventricular block	HP:0001678
781	CACNA2D1	Syncope	HP:0001279
781	CACNA2D1	Ventricular fibrillation	HP:0001663
8974	P4HA2	Autosomal dominant inheritance	HP:0000006
8974	P4HA2	High myopia	HP:0011003
783	CACNB2	Atrial fibrillation	HP:0005110
783	CACNB2	Autosomal dominant inheritance	HP:0000006
783	CACNB2	Shortened QT interval	HP:0012232
783	CACNB2	Syncope	HP:0001279
785	CACNB4	Gaze-evoked nystagmus	HP:0000640
785	CACNB4	Febrile seizures	HP:0002373
785	CACNB4	Autosomal dominant inheritance	HP:0000006
785	CACNB4	Photosensitive tonic-clonic seizures	HP:0007207
785	CACNB4	Absence seizure	HP:0002121
785	CACNB4	Dysarthria	HP:0001260
785	CACNB4	Aggressive behavior	HP:0000718
785	CACNB4	Abnormality of eye movement	HP:0000496
785	CACNB4	Vertigo	HP:0002321
785	CACNB4	Episodic ataxia	HP:0002131
785	CACNB4	Incomplete penetrance	HP:0003829
785	CACNB4	Status epilepticus	HP:0002133
785	CACNB4	Morning myoclonic jerks	HP:0007000
785	CACNB4	EEG with polyspike wave complexes	HP:0002392
785	CACNB4	Abnormality of the mouth	HP:0000153
785	CACNB4	Postural instability	HP:0002172
785	CACNB4	Truncal ataxia	HP:0002078
788	SLC25A20	Hepatomegaly	HP:0002240
788	SLC25A20	Rhabdomyolysis	HP:0003201
788	SLC25A20	Cyanosis	HP:0000961
788	SLC25A20	Hypoketotic hypoglycemia	HP:0001985
788	SLC25A20	Sudden episodic apnea	HP:0002882
788	SLC25A20	Hyperammonemia	HP:0001987
788	SLC25A20	Autosomal recessive inheritance	HP:0000007
788	SLC25A20	Generalized hypotonia	HP:0001290
788	SLC25A20	Elevated creatine kinase after exercise	HP:0008331
788	SLC25A20	Atrioventricular block	HP:0001678
788	SLC25A20	Dicarboxylic aciduria	HP:0003215
788	SLC25A20	Cardiorespiratory arrest	HP:0006543
788	SLC25A20	Encephalopathy	HP:0001298
788	SLC25A20	Ventricular tachycardia	HP:0004756
788	SLC25A20	Hypoglycemia	HP:0001943
788	SLC25A20	Fasting hypoglycemia	HP:0003162
788	SLC25A20	Ventricular extrasystoles	HP:0006682
788	SLC25A20	Elevated hepatic transaminase	HP:0002910
788	SLC25A20	Irritability	HP:0000737
788	SLC25A20	Seizures	HP:0001250
788	SLC25A20	Decreased plasma carnitine	HP:0003234
788	SLC25A20	Abnormality of skeletal muscles	HP:0040290
788	SLC25A20	Elevated serum creatine kinase	HP:0003236
788	SLC25A20	Lethargy	HP:0001254
788	SLC25A20	Cardiomyopathy	HP:0001638
788	SLC25A20	Oliguria	HP:0100520
788	SLC25A20	Coma	HP:0001259
788	SLC25A20	Muscle weakness	HP:0001324
788	SLC25A20	Respiratory insufficiency	HP:0002093
788	SLC25A20	Global developmental delay	HP:0001263
788	SLC25A20	Ventricular hypertrophy	HP:0001714
788	SLC25A20	Elevated plasma acylcarnitine levels	HP:0045045
788	SLC25A20	Hypotension	HP:0002615
788	SLC25A20	Hepatic failure	HP:0001399
788	SLC25A20	Preeclampsia	HP:0100602
788	SLC25A20	Microcephaly	HP:0000252
788	SLC25A20	Hypothermia	HP:0002045
788	SLC25A20	Bradycardia	HP:0001662
788	SLC25A20	Nystagmus	HP:0000639
790	CAD	Poor speech	HP:0002465
790	CAD	Hyperammonemia	HP:0001987
790	CAD	Epileptic encephalopathy	HP:0200134
790	CAD	Autosomal recessive inheritance	HP:0000007
790	CAD	Acanthocytosis	HP:0001927
790	CAD	Developmental regression	HP:0002376
790	CAD	Infantile onset	HP:0003593
790	CAD	Generalized hypotonia	HP:0001290
790	CAD	Anemia	HP:0001903
790	CAD	Global developmental delay	HP:0001263
790	CAD	Status epilepticus	HP:0002133
790	CAD	Anisopoikilocytosis	HP:0004823
790	CAD	Broad-based gait	HP:0002136
790	CAD	Abnormal glycosylation	HP:0012345
790	CAD	Renal tubular acidosis	HP:0001947
790	CAD	Progressive	HP:0003676
790	CAD	Brain atrophy	HP:0012444
790	CAD	Schistocytosis	HP:0001981
8985	PLOD3	Postnatal growth retardation	HP:0008897
8985	PLOD3	Thenar muscle atrophy	HP:0003393
8985	PLOD3	Pathologic fracture	HP:0002756
8985	PLOD3	Cataract	HP:0000518
8985	PLOD3	Autosomal recessive inheritance	HP:0000007
8985	PLOD3	Shallow orbits	HP:0000586
8985	PLOD3	Anteverted nares	HP:0000463
8985	PLOD3	Dilatation of the cerebral artery	HP:0004944
8985	PLOD3	Malar flattening	HP:0000272
8985	PLOD3	Flat face	HP:0012368
8985	PLOD3	Bruising susceptibility	HP:0000978
8985	PLOD3	Hypoplasia of the capital femoral epiphysis	HP:0003090
8985	PLOD3	Diaphragmatic eventration	HP:0009110
8985	PLOD3	Long philtrum	HP:0000343
8985	PLOD3	Scoliosis	HP:0002650
8985	PLOD3	Downturned corners of mouth	HP:0002714
8985	PLOD3	Platyspondyly	HP:0000926
8985	PLOD3	Coarse hair	HP:0002208
8985	PLOD3	Myopia	HP:0000545
8985	PLOD3	Talipes equinovarus	HP:0001762
8985	PLOD3	Intrauterine growth retardation	HP:0001511
8985	PLOD3	Decreased palmar creases	HP:0006184
8985	PLOD3	Osteopenia	HP:0000938
8985	PLOD3	Elbow flexion contracture	HP:0002987
8985	PLOD3	Hearing impairment	HP:0000365
8985	PLOD3	Global developmental delay	HP:0001263
8985	PLOD3	Low-set ears	HP:0000369
8985	PLOD3	Nail dysplasia	HP:0002164
8985	PLOD3	J-shaped sella turcica	HP:0002680
8985	PLOD3	Abnormality of the pinna	HP:0000377
8985	PLOD3	Arterial rupture	HP:0025019
8985	PLOD3	Short nose	HP:0003196
8988	HSPB3	Steppage gait	HP:0003376
8988	HSPB3	Skeletal muscle atrophy	HP:0003202
8988	HSPB3	Difficulty walking	HP:0002355
8988	HSPB3	EMG: neuropathic changes	HP:0003445
8988	HSPB3	Autosomal dominant inheritance	HP:0000006
8988	HSPB3	Peripheral neuropathy	HP:0009830
8988	HSPB3	Hyporeflexia of lower limbs	HP:0002600
8988	HSPB3	Areflexia of lower limbs	HP:0002522
8988	HSPB3	Lower limb muscle weakness	HP:0007340
8988	HSPB3	Slow progression	HP:0003677
8988	HSPB3	Distal lower limb muscle weakness	HP:0009053
8988	HSPB3	Distal upper limb muscle weakness	HP:0008959
8989	TRPA1	Pain	HP:0012531
8989	TRPA1	Autosomal dominant inheritance	HP:0000006
8989	TRPA1	Infantile onset	HP:0003593
801	CALM1	Prolonged QTc interval	HP:0005184
801	CALM1	Vertigo	HP:0002321
801	CALM1	Sudden death	HP:0001699
801	CALM1	Ventricular tachycardia	HP:0004756
801	CALM1	Autosomal dominant inheritance	HP:0000006
801	CALM1	Sudden cardiac death	HP:0001645
801	CALM1	Cardiac arrest	HP:0001695
801	CALM1	Ventricular fibrillation	HP:0001663
801	CALM1	Syncope	HP:0001279
8996	NOL3	Ataxia	HP:0001251
8996	NOL3	Autosomal dominant inheritance	HP:0000006
8996	NOL3	Frequent falls	HP:0002359
8996	NOL3	Myoclonus	HP:0001336
8996	NOL3	Adult onset	HP:0003581
8996	NOL3	Slow progression	HP:0003677
8996	NOL3	Falls	HP:0002527
805	CALM2	Prolonged QTc interval	HP:0005184
805	CALM2	Vertigo	HP:0002321
805	CALM2	Ventricular tachycardia	HP:0004756
805	CALM2	Autosomal dominant inheritance	HP:0000006
805	CALM2	Sudden cardiac death	HP:0001645
805	CALM2	Bradycardia	HP:0001662
805	CALM2	Syncope	HP:0001279
805	CALM2	Ventricular fibrillation	HP:0001663
805	CALM2	Cardiac arrest	HP:0001695
808	CALM3	Vertigo	HP:0002321
808	CALM3	Ventricular tachycardia	HP:0004756
808	CALM3	Sudden cardiac death	HP:0001645
808	CALM3	Syncope	HP:0001279
811	CALR	Prolonged bleeding time	HP:0003010
811	CALR	Arterial thrombosis	HP:0004420
811	CALR	Myelofibrosis	HP:0011974
811	CALR	Autosomal dominant inheritance	HP:0000006
811	CALR	Venous thrombosis	HP:0004936
811	CALR	Increased megakaryocyte count	HP:0005513
811	CALR	Paresthesia	HP:0003401
811	CALR	Chest pain	HP:0100749
811	CALR	Splenomegaly	HP:0001744
811	CALR	Purpura	HP:0000979
811	CALR	Somatic mutation	HP:0001428
811	CALR	Pallor	HP:0000980
811	CALR	Impaired platelet aggregation	HP:0003540
811	CALR	Transient ischemic attack	HP:0002326
811	CALR	Fever	HP:0001945
811	CALR	Abnormality of the skeletal system	HP:0000924
811	CALR	Amaurosis fugax	HP:0100576
811	CALR	Abnormal platelet morphology	HP:0011875
811	CALR	Thrombocytosis	HP:0001894
811	CALR	Acrocyanosis	HP:0001063
811	CALR	Myeloproliferative disorder	HP:0005547
811	CALR	Myelodysplasia	HP:0002863
811	CALR	Hypertension	HP:0000822
811	CALR	Acute leukemia	HP:0002488
811	CALR	Myocardial infarction	HP:0001658
815	CAMK2A	Delayed ability to walk	HP:0031936
815	CAMK2A	Absent speech	HP:0001344
815	CAMK2A	Intellectual disability	HP:0001249
815	CAMK2A	Seizures	HP:0001250
815	CAMK2A	Strabismus	HP:0000486
815	CAMK2A	Autosomal dominant inheritance	HP:0000006
815	CAMK2A	Autosomal recessive inheritance	HP:0000007
815	CAMK2A	Spasticity	HP:0001257
815	CAMK2A	Generalized myoclonic seizures	HP:0002123
815	CAMK2A	Inability to walk	HP:0002540
815	CAMK2A	Downslanted palpebral fissures	HP:0000494
815	CAMK2A	Global developmental delay	HP:0001263
815	CAMK2A	Intellectual disability, severe	HP:0010864
815	CAMK2A	Hypertelorism	HP:0000316
815	CAMK2A	Epicanthus	HP:0000286
816	CAMK2B	Absent speech	HP:0001344
816	CAMK2B	Feeding difficulties	HP:0011968
816	CAMK2B	Intellectual disability	HP:0001249
816	CAMK2B	Seizures	HP:0001250
816	CAMK2B	Constipation	HP:0002019
816	CAMK2B	Gastroesophageal reflux	HP:0002020
816	CAMK2B	Autosomal dominant inheritance	HP:0000006
816	CAMK2B	Strabismus	HP:0000486
816	CAMK2B	Visual impairment	HP:0000505
816	CAMK2B	Inability to walk	HP:0002540
164656	TMPRSS6	Ichthyosis	HP:0008064
164656	TMPRSS6	Intellectual disability	HP:0001249
164656	TMPRSS6	Hyperkeratosis	HP:0000962
164656	TMPRSS6	Abnormal intestine morphology	HP:0002242
164656	TMPRSS6	Elevated hepcidin level	HP:0031877
164656	TMPRSS6	Peripheral neuropathy	HP:0009830
164656	TMPRSS6	Autosomal recessive inheritance	HP:0000007
164656	TMPRSS6	Hypochromic microcytic anemia	HP:0004840
164656	TMPRSS6	Anisocytosis	HP:0011273
164656	TMPRSS6	Pallor	HP:0000980
164656	TMPRSS6	Intrahepatic cholestasis	HP:0001406
164656	TMPRSS6	Decreased circulating copper concentration	HP:0011967
164656	TMPRSS6	Poikilocytosis	HP:0004447
823	CAPN1	Pes cavus	HP:0001761
823	CAPN1	Skeletal muscle atrophy	HP:0003202
823	CAPN1	Peripheral neuropathy	HP:0009830
823	CAPN1	Autosomal recessive inheritance	HP:0000007
823	CAPN1	Functional abnormality of the bladder	HP:0000009
823	CAPN1	Spastic paraplegia	HP:0001258
823	CAPN1	Lower limb muscle weakness	HP:0007340
823	CAPN1	Dysarthria	HP:0001260
823	CAPN1	Lower limb spasticity	HP:0002061
823	CAPN1	Abnormality of eye movement	HP:0000496
823	CAPN1	Pes valgus	HP:0008081
823	CAPN1	Gait ataxia	HP:0002066
823	CAPN1	Limb ataxia	HP:0002070
823	CAPN1	Hyperreflexia in upper limbs	HP:0007350
823	CAPN1	Ankle clonus	HP:0011448
823	CAPN1	Distal sensory impairment	HP:0002936
823	CAPN1	Scoliosis	HP:0002650
823	CAPN1	Lower limb hyperreflexia	HP:0002395
823	CAPN1	Sensory axonal neuropathy	HP:0003390
823	CAPN1	Dysmetria	HP:0001310
823	CAPN1	Babinski sign	HP:0003487
823	CAPN1	Nystagmus	HP:0000639
9015	TAF1A	EMG abnormality	HP:0003457
9015	TAF1A	Abnormality of neutrophils	HP:0001874
9015	TAF1A	Lipoatrophy	HP:0100578
9015	TAF1A	Elevated serum creatine kinase	HP:0003236
9015	TAF1A	Palmoplantar keratoderma	HP:0000982
9015	TAF1A	Sensorineural hearing impairment	HP:0000407
9015	TAF1A	Dilated cardiomyopathy	HP:0001644
9015	TAF1A	Myopathy	HP:0003198
825	CAPN3	Ankle contracture	HP:0006466
825	CAPN3	Facial palsy	HP:0010628
825	CAPN3	Pectoralis amyotrophy	HP:0012037
825	CAPN3	Myositis	HP:0100614
825	CAPN3	Autosomal recessive inheritance	HP:0000007
825	CAPN3	Clumsiness	HP:0002312
825	CAPN3	Hamstring contractures	HP:0003089
825	CAPN3	Toe walking	HP:0040083
825	CAPN3	Calf muscle hypertrophy	HP:0008981
825	CAPN3	Proximal amyotrophy	HP:0007126
825	CAPN3	Wrist flexion contracture	HP:0001239
825	CAPN3	Eosinophilia	HP:0001880
825	CAPN3	Back pain	HP:0003418
825	CAPN3	Flexion contracture	HP:0001371
825	CAPN3	Difficulty climbing stairs	HP:0003551
825	CAPN3	Muscle fiber splitting	HP:0003555
825	CAPN3	Elevated serum creatine kinase	HP:0003236
825	CAPN3	Scapular muscle atrophy	HP:0009060
825	CAPN3	Muscular dystrophy	HP:0003560
825	CAPN3	Spinal rigidity	HP:0003306
825	CAPN3	Scapular winging	HP:0003691
825	CAPN3	Elbow flexion contracture	HP:0002987
825	CAPN3	Hyperlordosis	HP:0003307
825	CAPN3	Lower limb muscle weakness	HP:0007340
825	CAPN3	Pelvic girdle amyotrophy	HP:0008946
825	CAPN3	Difficulty walking	HP:0002355
825	CAPN3	Proximal muscle weakness	HP:0003701
825	CAPN3	Congenital finger flexion contractures	HP:0005879
825	CAPN3	Generalized muscle weakness	HP:0003324
825	CAPN3	Adult onset	HP:0003581
825	CAPN3	Myalgia	HP:0003326
825	CAPN3	Myopathy	HP:0003198
825	CAPN3	Abdominal wall muscle weakness	HP:0009023
831	CAST	Epidermal acanthosis	HP:0025092
831	CAST	Palmoplantar keratoderma	HP:0000982
831	CAST	Autosomal recessive inheritance	HP:0000007
831	CAST	Leukonychia	HP:0001820
831	CAST	Scaling skin	HP:0040189
831	CAST	Angular cheilitis	HP:0030318
831	CAST	Onycholysis	HP:0001806
9031	BAZ1B	Hypercalcemia	HP:0003072
9031	BAZ1B	Umbilical hernia	HP:0001537
9031	BAZ1B	Arnold-Chiari malformation	HP:0002308
9031	BAZ1B	Death in early adulthood	HP:0100613
9031	BAZ1B	Cataract	HP:0000518
9031	BAZ1B	Hypoplastic toenails	HP:0001800
9031	BAZ1B	Recurrent urinary tract infections	HP:0000010
9031	BAZ1B	Arthralgia	HP:0002829
9031	BAZ1B	Bladder diverticulum	HP:0000015
9031	BAZ1B	Tracheoesophageal fistula	HP:0002575
9031	BAZ1B	Stroke	HP:0001297
9031	BAZ1B	Nephrolithiasis	HP:0000787
9031	BAZ1B	Narrow face	HP:0000275
9031	BAZ1B	Corneal opacity	HP:0007957
9031	BAZ1B	Inguinal hernia	HP:0000023
9031	BAZ1B	Abnormality of extrapyramidal motor function	HP:0002071
9031	BAZ1B	Coarse facial features	HP:0000280
9031	BAZ1B	Functional abnormality of male internal genitalia	HP:0000025
9031	BAZ1B	Nevus flammeus	HP:0001052
9031	BAZ1B	Hyperacusis	HP:0010780
9031	BAZ1B	Cryptorchidism	HP:0000028
9031	BAZ1B	Supravalvular aortic stenosis	HP:0004381
9031	BAZ1B	Hallux valgus	HP:0001822
9031	BAZ1B	Dysgraphia	HP:0010526
9031	BAZ1B	Epicanthus	HP:0000286
9031	BAZ1B	Dysmetria	HP:0001310
9031	BAZ1B	Hypoplasia of penis	HP:0008736
9031	BAZ1B	Myopia	HP:0000545
9031	BAZ1B	Flat cornea	HP:0007720
9031	BAZ1B	Genu valgum	HP:0002857
9031	BAZ1B	Hypogonadotrophic hypogonadism	HP:0000044
9031	BAZ1B	Redundant skin	HP:0001582
9031	BAZ1B	Peptic ulcer	HP:0004398
9031	BAZ1B	Abnormal circulating lipid concentration	HP:0003119
9031	BAZ1B	High hypermetropia	HP:0008499
9031	BAZ1B	Pointed chin	HP:0000307
9031	BAZ1B	Abnormal dermatoglyphics	HP:0007477
9031	BAZ1B	Hypothyroidism	HP:0000821
9031	BAZ1B	Open bite	HP:0010807
9031	BAZ1B	Cholelithiasis	HP:0001081
9031	BAZ1B	Tremor	HP:0001337
9031	BAZ1B	Precocious puberty	HP:0000826
9031	BAZ1B	Joint hyperflexibility	HP:0005692
9031	BAZ1B	Overriding aorta	HP:0002623
9031	BAZ1B	Hyperreflexia	HP:0001347
9031	BAZ1B	Blepharophimosis	HP:0000581
9031	BAZ1B	Prematurely aged appearance	HP:0007495
9031	BAZ1B	Cerebral cortical atrophy	HP:0002120
9031	BAZ1B	Developmental regression	HP:0002376
9031	BAZ1B	Hoarse voice	HP:0001609
9031	BAZ1B	Renal duplication	HP:0000075
9031	BAZ1B	Vesicoureteral reflux	HP:0000076
9031	BAZ1B	Elfin facies	HP:0004428
9031	BAZ1B	Cerebral ischemia	HP:0002637
9031	BAZ1B	Broad forehead	HP:0000337
9031	BAZ1B	Nystagmus-induced head nodding	HP:0001361
9031	BAZ1B	Dysphonia	HP:0001618
9031	BAZ1B	Renal insufficiency	HP:0000083
9031	BAZ1B	Abnormality of pelvic girdle bone morphology	HP:0002644
9031	BAZ1B	Down-sloping shoulders	HP:0200021
9031	BAZ1B	Long philtrum	HP:0000343
9031	BAZ1B	Renal hypoplasia	HP:0000089
9031	BAZ1B	Scoliosis	HP:0002650
9031	BAZ1B	Type II diabetes mellitus	HP:0005978
9031	BAZ1B	Micrognathia	HP:0000347
9031	BAZ1B	High forehead	HP:0000348
9031	BAZ1B	Gait imbalance	HP:0002141
9031	BAZ1B	Ventricular septal defect	HP:0001629
9031	BAZ1B	Proteinuria	HP:0000093
9031	BAZ1B	Vertebral segmentation defect	HP:0003422
9031	BAZ1B	Atrial septal defect	HP:0001631
9031	BAZ1B	Mitral valve prolapse	HP:0001634
9031	BAZ1B	Congestive heart failure	HP:0001635
9031	BAZ1B	Tetralogy of Fallot	HP:0001636
9031	BAZ1B	Hypercalciuria	HP:0002150
9031	BAZ1B	Hypertrophic cardiomyopathy	HP:0001639
9031	BAZ1B	Cardiomegaly	HP:0001640
9031	BAZ1B	Peripheral pulmonary artery stenosis	HP:0004969
9031	BAZ1B	Attention deficit hyperactivity disorder	HP:0007018
9031	BAZ1B	Pulmonic stenosis	HP:0001642
9031	BAZ1B	Patent ductus arteriosus	HP:0001643
9031	BAZ1B	Joint stiffness	HP:0001387
9031	BAZ1B	Joint laxity	HP:0001388
9031	BAZ1B	Sudden cardiac death	HP:0001645
9031	BAZ1B	Bicuspid aortic valve	HP:0001647
9031	BAZ1B	Low-set, posteriorly rotated ears	HP:0000368
9031	BAZ1B	Retinal arteriolar tortuosity	HP:0001136
9031	BAZ1B	Clinodactyly of the 5th finger	HP:0004209
9031	BAZ1B	Posterior embryotoxon	HP:0000627
9031	BAZ1B	Mitral regurgitation	HP:0001653
9031	BAZ1B	Aplasia/Hypoplasia of the iris	HP:0008053
9031	BAZ1B	Lacrimation abnormality	HP:0000632
9031	BAZ1B	Nephrocalcinosis	HP:0000121
9031	BAZ1B	Myocardial infarction	HP:0001658
9031	BAZ1B	Blue irides	HP:0000635
9031	BAZ1B	Short nose	HP:0003196
9031	BAZ1B	Pelvic kidney	HP:0000125
9031	BAZ1B	Myopathy	HP:0003198
9031	BAZ1B	Increased nuchal translucency	HP:0010880
9031	BAZ1B	Chronic otitis media	HP:0000389
9031	BAZ1B	Phonophobia	HP:0002183
9031	BAZ1B	Macrotia	HP:0000400
9031	BAZ1B	Polycystic ovaries	HP:0000147
9031	BAZ1B	Sensorineural hearing impairment	HP:0000407
9031	BAZ1B	Wide mouth	HP:0000154
9031	BAZ1B	Protruding ear	HP:0000411
9031	BAZ1B	Hypodontia	HP:0000668
9031	BAZ1B	Adducted thumb	HP:0001181
9031	BAZ1B	Recurrent respiratory infections	HP:0002205
9031	BAZ1B	Macroglossia	HP:0000158
9031	BAZ1B	Carious teeth	HP:0000670
9031	BAZ1B	Radioulnar synostosis	HP:0002974
9031	BAZ1B	Elevated serum creatine kinase	HP:0003236
9031	BAZ1B	Abnormality of the diencephalon	HP:0010662
9031	BAZ1B	Abnormality of dental enamel	HP:0000682
9031	BAZ1B	Osteopenia	HP:0000938
9031	BAZ1B	Osteoporosis	HP:0000939
9031	BAZ1B	Hypoplasia of the zygomatic bone	HP:0010669
9031	BAZ1B	Wide nasal bridge	HP:0000431
9031	BAZ1B	Insomnia	HP:0100785
9031	BAZ1B	Tubulointerstitial abnormality	HP:0001969
9031	BAZ1B	Dental malocclusion	HP:0000689
9031	BAZ1B	Microdontia	HP:0000691
9031	BAZ1B	Thick lower lip vermilion	HP:0000179
9031	BAZ1B	Patellar dislocation	HP:0002999
9031	BAZ1B	Overfriendliness	HP:0100025
9031	BAZ1B	Periorbital edema	HP:0100539
9031	BAZ1B	Multiple renal cysts	HP:0005562
9031	BAZ1B	Delayed skeletal maturation	HP:0002750
9031	BAZ1B	Sacral dimple	HP:0000960
9031	BAZ1B	Abnormality of the gastric mucosa	HP:0004295
9031	BAZ1B	Atrophy/Degeneration involving the corticospinal tracts	HP:0007372
9031	BAZ1B	Depressivity	HP:0000716
9031	BAZ1B	Colonic diverticula	HP:0002253
9031	BAZ1B	Autism	HP:0000717
9031	BAZ1B	Abnormal fingernail morphology	HP:0001231
9031	BAZ1B	Abnormality of the neck	HP:0000464
9031	BAZ1B	Renovascular hypertension	HP:0100817
9031	BAZ1B	Abnormal endocardium morphology	HP:0004306
9031	BAZ1B	Obsessive-compulsive behavior	HP:0000722
9031	BAZ1B	Gingival overgrowth	HP:0000212
9031	BAZ1B	Abnormality of the ankles	HP:0003028
9031	BAZ1B	Urethral stenosis	HP:0008661
9031	BAZ1B	Abnormal carotid artery morphology	HP:0005344
9031	BAZ1B	Nausea and vomiting	HP:0002017
9031	BAZ1B	Intellectual disability	HP:0001249
9031	BAZ1B	Spina bifida occulta	HP:0003298
9031	BAZ1B	Short stature	HP:0004322
9031	BAZ1B	Constipation	HP:0002019
9031	BAZ1B	Anxiety	HP:0000739
9031	BAZ1B	Pes planus	HP:0001763
9031	BAZ1B	Gastroesophageal reflux	HP:0002020
9031	BAZ1B	Muscular hypotonia	HP:0001252
9031	BAZ1B	Megalocornea	HP:0000485
9031	BAZ1B	Strabismus	HP:0000486
9031	BAZ1B	Malabsorption	HP:0002024
9031	BAZ1B	Everted lower lip vermilion	HP:0000232
9031	BAZ1B	Obesity	HP:0001513
9031	BAZ1B	Spasticity	HP:0001257
9031	BAZ1B	Hyperlordosis	HP:0003307
9031	BAZ1B	Abdominal pain	HP:0002027
9031	BAZ1B	Dysarthria	HP:0001260
9031	BAZ1B	Abnormal form of the vertebral bodies	HP:0003312
9031	BAZ1B	Rectal prolapse	HP:0002035
9031	BAZ1B	Glaucoma	HP:0000501
9031	BAZ1B	Kyphosis	HP:0002808
9031	BAZ1B	Aortic arch aneurysm	HP:0005113
9031	BAZ1B	Visual impairment	HP:0000505
9031	BAZ1B	Increased bone mineral density	HP:0011001
9031	BAZ1B	Failure to thrive in infancy	HP:0001531
9031	BAZ1B	Microcephaly	HP:0000252
9031	BAZ1B	Pectus excavatum	HP:0000767
841	CASP8	Short stature	HP:0004322
841	CASP8	Failure to thrive	HP:0001508
841	CASP8	Eczema	HP:0000964
841	CASP8	Micronodular cirrhosis	HP:0001413
841	CASP8	Autosomal dominant inheritance	HP:0000006
841	CASP8	Autosomal recessive inheritance	HP:0000007
841	CASP8	Defective B cell activation	HP:0005384
841	CASP8	Pneumonia	HP:0002090
841	CASP8	Decreased T cell activation	HP:0005419
841	CASP8	Subacute progressive viral hepatitis	HP:0006572
841	CASP8	Chronic diarrhea	HP:0002028
841	CASP8	Splenomegaly	HP:0001744
841	CASP8	Heterogeneous	HP:0001425
841	CASP8	Recurrent sinopulmonary infections	HP:0005425
841	CASP8	Asthma	HP:0002099
841	CASP8	Somatic mutation	HP:0001428
841	CASP8	Hepatocellular carcinoma	HP:0001402
841	CASP8	Lymphadenopathy	HP:0002716
843	CASP10	Hepatomegaly	HP:0002240
843	CASP10	Urticaria	HP:0001025
843	CASP10	Autosomal dominant inheritance	HP:0000006
843	CASP10	Vasculitis	HP:0002633
843	CASP10	Splenomegaly	HP:0001744
843	CASP10	Malar rash	HP:0025300
843	CASP10	Somatic mutation	HP:0001428
843	CASP10	Increased level of L-fucose in urine	HP:0410067
843	CASP10	Eosinophilia	HP:0001880
843	CASP10	Reduced delayed hypersensitivity	HP:0002972
843	CASP10	Increased B cell count	HP:0005404
843	CASP10	Antiphospholipid antibody positivity	HP:0003613
843	CASP10	Stomach cancer	HP:0012126
843	CASP10	Autoimmune hemolytic anemia	HP:0001890
843	CASP10	Iron deficiency anemia	HP:0001891
843	CASP10	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	HP:0002851
843	CASP10	Nephrotic syndrome	HP:0000100
843	CASP10	Juvenile onset	HP:0003621
843	CASP10	Antinuclear antibody positivity	HP:0003493
843	CASP10	Increased proportion of HLA DR+ T cells	HP:0002853
843	CASP10	Increased circulating IgG level	HP:0003237
843	CASP10	Increased circulating IgM level	HP:0003496
843	CASP10	Follicular hyperplasia	HP:0002729
843	CASP10	Lymphoma	HP:0002665
843	CASP10	Chronic noninfectious lymphadenopathy	HP:0002730
843	CASP10	Rheumatoid factor positive	HP:0002923
843	CASP10	Decreased lymphocyte apoptosis	HP:0002731
843	CASP10	Coombs-positive hemolytic anemia	HP:0004844
843	CASP10	Neutropenia in presence of anti-neutropil antibodies	HP:0001904
843	CASP10	Autoimmune thrombocytopenia	HP:0001973
843	CASP10	Nephritis	HP:0000123
843	CASP10	Antineutrophil antibody positivity	HP:0003453
843	CASP10	Increased circulating IgA level	HP:0003261
843	CASP10	Platelet antibody positive	HP:0003454
843	CASP10	Smooth muscle antibody positivity	HP:0003262
729920	CRPPA	Macrocephaly	HP:0000256
729920	CRPPA	Fatty replacement of skeletal muscle	HP:0012548
729920	CRPPA	Areflexia	HP:0001284
729920	CRPPA	Cataract	HP:0000518
729920	CRPPA	Autosomal recessive inheritance	HP:0000007
729920	CRPPA	Generalized hypotonia	HP:0001290
729920	CRPPA	Metatarsus valgus	HP:0010508
729920	CRPPA	Anophthalmia	HP:0000528
729920	CRPPA	Calf muscle hypertrophy	HP:0008981
729920	CRPPA	Corneal opacity	HP:0007957
729920	CRPPA	Pachygyria	HP:0001302
729920	CRPPA	Retrognathia	HP:0000278
729920	CRPPA	Decreased fetal movement	HP:0001558
729920	CRPPA	Dandy-Walker malformation	HP:0001305
729920	CRPPA	Highly elevated creatine kinase	HP:0030234
729920	CRPPA	Cryptorchidism	HP:0000028
729920	CRPPA	Retinal detachment	HP:0000541
729920	CRPPA	Hypoplasia of the corpus callosum	HP:0002079
729920	CRPPA	Hypoplasia of penis	HP:0008736
729920	CRPPA	Remnants of the hyaloid vascular system	HP:0007968
729920	CRPPA	Proximal muscle weakness in lower limbs	HP:0008994
729920	CRPPA	Encephalocele	HP:0002084
729920	CRPPA	Proximal muscle weakness in upper limbs	HP:0008997
729920	CRPPA	Retinal dysplasia	HP:0007973
729920	CRPPA	Neonatal hypotonia	HP:0001319
729920	CRPPA	Cerebellar hypoplasia	HP:0001321
729920	CRPPA	Muscle weakness	HP:0001324
729920	CRPPA	Retinal dystrophy	HP:0000556
729920	CRPPA	Cerebellar cyst	HP:0002350
729920	CRPPA	Specific learning disability	HP:0001328
729920	CRPPA	Difficulty walking	HP:0002355
729920	CRPPA	Absent septum pellucidum	HP:0001331
729920	CRPPA	Chorioretinal dysplasia	HP:0007731
729920	CRPPA	Frequent falls	HP:0002359
729920	CRPPA	Microphthalmia	HP:0000568
729920	CRPPA	Partial agenesis of the corpus callosum	HP:0001338
729920	CRPPA	Macrogyria	HP:0007227
729920	CRPPA	Hypoplasia of the brainstem	HP:0002365
729920	CRPPA	Muscle spasm	HP:0003394
729920	CRPPA	Facial diplegia	HP:0001349
729920	CRPPA	Ventriculomegaly	HP:0002119
729920	CRPPA	Polymicrogyria	HP:0002126
729920	CRPPA	Abnormality of the cardiovascular system	HP:0001626
729920	CRPPA	Type II lissencephaly	HP:0007260
729920	CRPPA	Slow progression	HP:0003677
729920	CRPPA	Hypoglycosylation of alpha-dystroglycan	HP:0030046
729920	CRPPA	Optic nerve hypoplasia	HP:0000609
729920	CRPPA	Iris coloboma	HP:0000612
729920	CRPPA	Posteriorly rotated ears	HP:0000358
729920	CRPPA	Microtia	HP:0008551
729920	CRPPA	Scapular winging	HP:0003691
729920	CRPPA	Abnormal aldolase level	HP:0012400
729920	CRPPA	Exercise-induced myoglobinuria	HP:0008305
729920	CRPPA	Low-set ears	HP:0000369
729920	CRPPA	Calf muscle pseudohypertrophy	HP:0003707
729920	CRPPA	Limb-girdle muscular dystrophy	HP:0006785
729920	CRPPA	Skeletal muscle atrophy	HP:0003202
729920	CRPPA	EMG: myopathic abnormalities	HP:0003458
729920	CRPPA	Optic atrophy	HP:0000648
729920	CRPPA	Agyria	HP:0031882
729920	CRPPA	Intellectual disability, profound	HP:0002187
729920	CRPPA	Abnormal circulating creatine kinase concentration	HP:0040081
729920	CRPPA	Toe walking	HP:0040083
729920	CRPPA	Reduced muscle fiber alpha dystroglycan	HP:0030099
729920	CRPPA	Peters anomaly	HP:0000659
729920	CRPPA	Protruding ear	HP:0000411
729920	CRPPA	Congenital muscular dystrophy	HP:0003741
729920	CRPPA	Adducted thumb	HP:0001181
729920	CRPPA	Macroglossia	HP:0000158
729920	CRPPA	Elevated serum creatine kinase	HP:0003236
729920	CRPPA	Submucous cleft hard palate	HP:0000176
729920	CRPPA	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
729920	CRPPA	Abnormality of higher mental function	HP:0011446
729920	CRPPA	Kyphoscoliosis	HP:0002751
729920	CRPPA	Bifid uvula	HP:0000193
729920	CRPPA	Abnormality of the cerebral white matter	HP:0002500
729920	CRPPA	Progressive inability to walk	HP:0002505
729920	CRPPA	Limb-girdle muscle atrophy	HP:0003797
729920	CRPPA	Proximal amyotrophy	HP:0007126
729920	CRPPA	Frontal bossing	HP:0002007
729920	CRPPA	Abnormality of the eye	HP:0000478
729920	CRPPA	Intellectual disability	HP:0001249
729920	CRPPA	Seizures	HP:0001250
729920	CRPPA	Microcornea	HP:0000482
729920	CRPPA	Muscular hypotonia	HP:0001252
729920	CRPPA	Reduced vital capacity	HP:0002792
729920	CRPPA	Muscular dystrophy	HP:0003560
729920	CRPPA	Gray matter heterotopia	HP:0002282
729920	CRPPA	Deeply set eye	HP:0000490
729920	CRPPA	Achilles tendon contracture	HP:0001771
729920	CRPPA	Hydrocephalus	HP:0000238
729920	CRPPA	Global developmental delay	HP:0001263
729920	CRPPA	Abnormal lactate dehydrogenase activity	HP:0045040
729920	CRPPA	Hyporeflexia	HP:0001265
729920	CRPPA	Mildly elevated creatine kinase	HP:0008180
729920	CRPPA	Glaucoma	HP:0000501
729920	CRPPA	Motor delay	HP:0001270
729920	CRPPA	Cerebellar atrophy	HP:0001272
729920	CRPPA	Agenesis of corpus callosum	HP:0001274
729920	CRPPA	Generalized muscle weakness	HP:0003324
729920	CRPPA	Microcephaly	HP:0000252
729920	CRPPA	Limb-girdle muscle weakness	HP:0003325
729920	CRPPA	Myalgia	HP:0003326
844	CASQ1	Muscle spasm	HP:0003394
844	CASQ1	EMG: myopathic abnormalities	HP:0003458
844	CASQ1	Type 2 muscle fiber atrophy	HP:0003554
844	CASQ1	Elevated serum creatine kinase	HP:0003236
844	CASQ1	Increased variability in muscle fiber diameter	HP:0003557
844	CASQ1	Autosomal dominant inheritance	HP:0000006
844	CASQ1	Centrally nucleated skeletal muscle fibers	HP:0003687
844	CASQ1	Muscle fiber tubular inclusions	HP:0100301
844	CASQ1	Proximal muscle weakness	HP:0003701
844	CASQ1	Fatiguable weakness of proximal limb muscles	HP:0030200
844	CASQ1	Easy fatigability	HP:0003388
844	CASQ1	Myalgia	HP:0003326
844	CASQ1	Myopathy	HP:0003198
9037	SEMA5A	Preauricular skin tag	HP:0000384
9037	SEMA5A	Recurrent fractures	HP:0002757
9037	SEMA5A	Severe global developmental delay	HP:0011344
9037	SEMA5A	High pitched voice	HP:0001620
9037	SEMA5A	Finger syndactyly	HP:0006101
9037	SEMA5A	Short neck	HP:0000470
9037	SEMA5A	Inguinal hernia	HP:0000023
9037	SEMA5A	Abnormality of cardiovascular system morphology	HP:0030680
9037	SEMA5A	Scoliosis	HP:0002650
9037	SEMA5A	High palate	HP:0000218
9037	SEMA5A	Epicanthus	HP:0000286
9037	SEMA5A	Short stature	HP:0004322
9037	SEMA5A	Muscular hypotonia	HP:0001252
9037	SEMA5A	Intrauterine growth retardation	HP:0001511
9037	SEMA5A	Cat cry	HP:0200046
9037	SEMA5A	Downslanted palpebral fissures	HP:0000494
9037	SEMA5A	Wide nasal bridge	HP:0000431
9037	SEMA5A	Low-set, posteriorly rotated ears	HP:0000368
9037	SEMA5A	Intellectual disability, severe	HP:0010864
9037	SEMA5A	Small hand	HP:0200055
9037	SEMA5A	Microretrognathia	HP:0000308
9037	SEMA5A	Round face	HP:0000311
9037	SEMA5A	Hypertelorism	HP:0000316
9037	SEMA5A	Joint hyperflexibility	HP:0005692
9037	SEMA5A	Microcephaly	HP:0000252
9037	SEMA5A	Abnormality of bone mineral density	HP:0004348
845	CASQ2	Vertigo	HP:0002321
845	CASQ2	Seizures	HP:0001250
845	CASQ2	Sudden death	HP:0001699
845	CASQ2	Ventricular tachycardia	HP:0004756
845	CASQ2	Autosomal dominant inheritance	HP:0000006
845	CASQ2	Atrial fibrillation	HP:0005110
845	CASQ2	Atrial standstill	HP:0025478
845	CASQ2	Autosomal recessive inheritance	HP:0000007
845	CASQ2	Left ventricular dysfunction	HP:0005162
845	CASQ2	Sudden cardiac death	HP:0001645
845	CASQ2	Bradycardia	HP:0001662
845	CASQ2	Syncope	HP:0001279
846	CASR	Hypercalcemia	HP:0003072
846	CASR	Tetany	HP:0001281
846	CASR	EMG abnormality	HP:0003457
846	CASR	Narrow chest	HP:0000774
846	CASR	Autosomal dominant inheritance	HP:0000006
846	CASR	Autosomal recessive inheritance	HP:0000007
846	CASR	Primary hyperparathyroidism	HP:0008200
846	CASR	Optic atrophy	HP:0000648
846	CASR	Generalized hypotonia	HP:0001290
846	CASR	Fatigable weakness	HP:0003473
846	CASR	Nephrolithiasis	HP:0000787
846	CASR	Reduced consciousness/confusion	HP:0004372
846	CASR	Aminoaciduria	HP:0003355
846	CASR	Arrhythmia	HP:0011675
846	CASR	Hyperphosphaturia	HP:0003109
846	CASR	Polydipsia	HP:0001959
846	CASR	Splanchnic vein thrombosis	HP:0030247
846	CASR	Feeding difficulties in infancy	HP:0008872
846	CASR	Dyspnea	HP:0002094
846	CASR	Abnormality of the metaphysis	HP:0000944
846	CASR	Calcinosis	HP:0003761
846	CASR	Abnormal calcium-phosphate regulating hormone level	HP:0100530
846	CASR	Abnormal renal physiology	HP:0012211
846	CASR	Diabetes mellitus	HP:0000819
846	CASR	Abnormality of the thyroid gland	HP:0000820
846	CASR	Writer's cramp	HP:0002356
846	CASR	Leukocytosis	HP:0001974
846	CASR	Hypotension	HP:0002615
846	CASR	Hypocalciuria	HP:0003127
846	CASR	Jaundice	HP:0000952
846	CASR	Recurrent pancreatitis	HP:0100027
846	CASR	Alopecia	HP:0001596
846	CASR	Dry skin	HP:0000958
846	CASR	Hepatomegaly	HP:0002240
846	CASR	Hypermagnesiuria	HP:0012608
846	CASR	Muscle spasm	HP:0003394
846	CASR	Eczema	HP:0000964
846	CASR	Recurrent fractures	HP:0002757
846	CASR	Pancreatitis	HP:0001733
846	CASR	Emotional lability	HP:0000712
846	CASR	Paresthesia	HP:0003401
846	CASR	Hyperparathyroidism	HP:0000843
846	CASR	Depressivity	HP:0000716
846	CASR	Abnormal fingernail morphology	HP:0001231
846	CASR	Splenomegaly	HP:0001744
846	CASR	Increased circulating renin level	HP:0000848
846	CASR	Laryngospasm	HP:0025425
846	CASR	Metaphyseal irregularity	HP:0003025
846	CASR	Hypokalemia	HP:0002900
846	CASR	Increased intracranial pressure	HP:0002516
846	CASR	Cortical myoclonus	HP:0040148
846	CASR	Hypocalcemia	HP:0002901
846	CASR	Basal ganglia calcification	HP:0002135
846	CASR	Hyperphosphatemia	HP:0002905
846	CASR	Elevated C-reactive protein level	HP:0011227
846	CASR	Abnormal enzyme/coenzyme activity	HP:0012379
846	CASR	Elevated circulating parathyroid hormone level	HP:0003165
846	CASR	Pancreatic calcification	HP:0005213
846	CASR	Short stature	HP:0004322
846	CASR	Seizures	HP:0001250
846	CASR	Constipation	HP:0002019
846	CASR	Anxiety	HP:0000739
846	CASR	Congestive heart failure	HP:0001635
846	CASR	Muscular hypotonia	HP:0001252
846	CASR	Failure to thrive	HP:0001508
846	CASR	Hypophosphatemia	HP:0002148
846	CASR	Hypomagnesemia	HP:0002917
846	CASR	Tachypnea	HP:0002789
846	CASR	Hypercalciuria	HP:0002150
846	CASR	Hypermagnesemia	HP:0002918
846	CASR	Polyuria	HP:0000103
846	CASR	Irregular hyperpigmentation	HP:0007400
846	CASR	Abnormal pattern of respiration	HP:0002793
846	CASR	Abdominal pain	HP:0002027
846	CASR	Anemia	HP:0001903
846	CASR	Nephrocalcinosis	HP:0000121
846	CASR	Reduced bone mineral density	HP:0004349
847	CAT	Reduced catalase activity	HP:0012517
847	CAT	Autosomal recessive inheritance	HP:0000007
847	CAT	Oral ulcer	HP:0000155
857	CAV1	Joint contracture of the hand	HP:0009473
857	CAV1	Autosomal dominant inheritance	HP:0000006
857	CAV1	Autosomal recessive inheritance	HP:0000007
857	CAV1	Developmental cataract	HP:0000519
857	CAV1	Arthralgia	HP:0002829
857	CAV1	Abnormality of the face	HP:0000271
857	CAV1	Gait ataxia	HP:0002066
857	CAV1	Elevated pulmonary artery pressure	HP:0004890
857	CAV1	Hypopigmented skin patches	HP:0001053
857	CAV1	Dysmetria	HP:0001310
857	CAV1	Bone cyst	HP:0012062
857	CAV1	Pulmonary arterial hypertension	HP:0002092
857	CAV1	Muscle weakness	HP:0001324
857	CAV1	Dyspnea	HP:0002094
857	CAV1	Mandibular prognathia	HP:0000303
857	CAV1	Diabetes mellitus	HP:0000819
857	CAV1	Loss of subcutaneous adipose tissue in limbs	HP:0003635
857	CAV1	Hypercholesterolemia	HP:0003124
857	CAV1	Abnormality of skeletal muscle fiber size	HP:0012084
857	CAV1	Growth hormone deficiency	HP:0000824
857	CAV1	Precocious puberty	HP:0000826
857	CAV1	Absence of subcutaneous fat	HP:0007485
857	CAV1	Atherosclerosis	HP:0002621
857	CAV1	Prolonged QTc interval	HP:0005184
857	CAV1	Dyspareunia	HP:0030016
857	CAV1	Pulmonary infiltrates	HP:0002113
857	CAV1	Pigmentary retinopathy	HP:0000580
857	CAV1	Ventriculomegaly	HP:0002119
857	CAV1	Hyperinsulinemia	HP:0000842
857	CAV1	Growth hormone excess	HP:0000845
857	CAV1	Prominent supraorbital ridges	HP:0000336
857	CAV1	Renal insufficiency	HP:0000083
857	CAV1	Hypocalcemia	HP:0002901
857	CAV1	Atlantoaxial dislocation	HP:0003414
857	CAV1	Insulin resistance	HP:0000855
857	CAV1	Arthritis	HP:0001369
857	CAV1	Scoliosis	HP:0002650
857	CAV1	Flexion contracture	HP:0001371
857	CAV1	Elevated hepatic transaminase	HP:0002910
857	CAV1	Narrow foramen obturatorium	HP:0100958
857	CAV1	Congestive heart failure	HP:0001635
857	CAV1	Secondary amenorrhea	HP:0000869
857	CAV1	Peripheral neuropathy	HP:0009830
857	CAV1	Hypertrophic cardiomyopathy	HP:0001639
857	CAV1	Skin ulcer	HP:0200042
857	CAV1	Hypertriglyceridemia	HP:0002155
857	CAV1	Decreased adipose tissue around neck	HP:0005995
857	CAV1	Oligomenorrhea	HP:0000876
857	CAV1	Nephropathy	HP:0000112
857	CAV1	Progressive proximal muscle weakness	HP:0009073
857	CAV1	Cirrhosis	HP:0001394
857	CAV1	Hepatic steatosis	HP:0001397
857	CAV1	Hepatic failure	HP:0001399
857	CAV1	Distal sensory impairment	HP:0002936
857	CAV1	Clonus	HP:0002169
857	CAV1	Myocardial infarction	HP:0001658
857	CAV1	Myopathy	HP:0003198
857	CAV1	Bradycardia	HP:0001662
857	CAV1	Hypertensive crisis	HP:0100735
857	CAV1	Nystagmus	HP:0000639
857	CAV1	Skeletal muscle hypertrophy	HP:0003712
857	CAV1	Autoimmunity	HP:0002960
857	CAV1	Abnormal circulating creatine kinase concentration	HP:0040081
857	CAV1	Polycystic ovaries	HP:0000147
857	CAV1	Large hands	HP:0001176
857	CAV1	Hepatosplenomegaly	HP:0001433
857	CAV1	Exercise-induced myalgia	HP:0003738
857	CAV1	Pulmonary fibrosis	HP:0002206
857	CAV1	Carious teeth	HP:0000670
857	CAV1	Babinski sign	HP:0003487
857	CAV1	Recurrent infections	HP:0002719
857	CAV1	Glucose intolerance	HP:0001952
857	CAV1	Decreased circulating IgA level	HP:0002720
857	CAV1	Immunodeficiency	HP:0002721
857	CAV1	Abnormal oral cavity morphology	HP:0000163
857	CAV1	Lipodystrophy	HP:0009125
857	CAV1	Oliguria	HP:0100520
857	CAV1	Palpitations	HP:0001962
857	CAV1	Osteopenia	HP:0000938
857	CAV1	Osteoporosis	HP:0000939
857	CAV1	Lower limb muscle weakness	HP:0007340
857	CAV1	Reduced subcutaneous adipose tissue	HP:0003758
857	CAV1	Contractures involving the joints of the feet	HP:0008366
857	CAV1	Ventricular hypertrophy	HP:0001714
857	CAV1	Generalized hirsutism	HP:0002230
857	CAV1	Acanthosis nigricans	HP:0000956
857	CAV1	Delayed skeletal maturation	HP:0002750
857	CAV1	Abnormal bowel sounds	HP:0030142
857	CAV1	Hepatomegaly	HP:0002240
857	CAV1	Arterial stenosis	HP:0100545
857	CAV1	Pancreatitis	HP:0001733
857	CAV1	Increased pulmonary vascular resistance	HP:0005317
857	CAV1	Recurrent fractures	HP:0002757
857	CAV1	Lack of facial subcutaneous fat	HP:0005320
857	CAV1	Hyperhidrosis	HP:0000975
857	CAV1	Splenomegaly	HP:0001744
857	CAV1	Glomerulopathy	HP:0100820
857	CAV1	Xerostomia	HP:0000217
857	CAV1	Dysphagia	HP:0002015
857	CAV1	Muscle stiffness	HP:0003552
857	CAV1	Nausea and vomiting	HP:0002017
857	CAV1	Intellectual disability	HP:0001249
857	CAV1	Short stature	HP:0004322
857	CAV1	Mucosal telangiectasiae	HP:0100579
857	CAV1	Lipoatrophy	HP:0100578
857	CAV1	Gastroesophageal reflux	HP:0002020
857	CAV1	Failure to thrive	HP:0001508
857	CAV1	Pyloric stenosis	HP:0002021
857	CAV1	Telangiectasia of the skin	HP:0100585
857	CAV1	Abnormality of skin pigmentation	HP:0001000
857	CAV1	Malabsorption	HP:0002024
857	CAV1	Broad foot	HP:0001769
857	CAV1	Spinal rigidity	HP:0003306
857	CAV1	Hyperlordosis	HP:0003307
857	CAV1	Osteolysis	HP:0002797
857	CAV1	Hirsutism	HP:0001007
857	CAV1	Accelerated skeletal maturation	HP:0005616
857	CAV1	Variable expressivity	HP:0003828
857	CAV1	Incomplete penetrance	HP:0003829
857	CAV1	Atrial fibrillation	HP:0005110
857	CAV1	Orthostatic hypotension	HP:0001278
857	CAV1	Dysmenorrhea	HP:0100607
9049	AIP	Broad jaw	HP:0012802
9049	AIP	Macrodactyly	HP:0004099
9049	AIP	Gynecomastia	HP:0000771
9049	AIP	Autosomal dominant inheritance	HP:0000006
9049	AIP	Internal ophthalmoplegia	HP:0007942
9049	AIP	Autosomal recessive inheritance	HP:0000007
9049	AIP	Decreased fertility in males	HP:0012041
9049	AIP	Headache	HP:0002315
9049	AIP	Arthralgia	HP:0002829
9049	AIP	Generalized hyperpigmentation	HP:0007440
9049	AIP	Facial erythema	HP:0001041
9049	AIP	Vertigo	HP:0002321
9049	AIP	Progressive visual loss	HP:0000529
9049	AIP	Cortical diaphyseal thickening of the upper limbs	HP:0003859
9049	AIP	Nephrolithiasis	HP:0000787
9049	AIP	Long face	HP:0000276
9049	AIP	Coarse facial features	HP:0000280
9049	AIP	Male hypogonadism	HP:0000026
9049	AIP	Migraine	HP:0002076
9049	AIP	Impotence	HP:0000802
9049	AIP	Poor wound healing	HP:0001058
9049	AIP	Full cheeks	HP:0000293
9049	AIP	Acne	HP:0001061
9049	AIP	Sleep apnea	HP:0010535
9049	AIP	Mood changes	HP:0001575
9049	AIP	Long penis	HP:0000040
9049	AIP	Striae distensae	HP:0001065
9049	AIP	Hypogonadotrophic hypogonadism	HP:0000044
9049	AIP	Deep palmar crease	HP:0006191
9049	AIP	Mandibular prognathia	HP:0000303
9049	AIP	Secondary growth hormone deficiency	HP:0008240
9049	AIP	Diabetes mellitus	HP:0000819
9049	AIP	Pituitary hypothyroidism	HP:0008245
9049	AIP	Hypertension	HP:0000822
9049	AIP	Delayed puberty	HP:0000823
9049	AIP	Hypotension	HP:0002615
9049	AIP	Wide penis	HP:0030265
9049	AIP	Bitemporal hemianopia	HP:0030521
9049	AIP	Easy fatigability	HP:0003388
9049	AIP	Increased serum insulin-like growth factor 1	HP:0030269
9049	AIP	Anterior hypopituitarism	HP:0000830
9049	AIP	Dyspareunia	HP:0030016
9049	AIP	Psychotic mentation	HP:0001345
9049	AIP	Decreased female libido	HP:0030018
9049	AIP	Hoarse voice	HP:0001609
9049	AIP	Paresthesia	HP:0003401
9049	AIP	Deep plantar creases	HP:0001869
9049	AIP	Growth hormone excess	HP:0000845
9049	AIP	Pituitary adenoma	HP:0002893
9049	AIP	Broad forehead	HP:0000337
9049	AIP	Increased circulating ACTH level	HP:0003154
9049	AIP	Hypokalemia	HP:0002900
9049	AIP	Prolactinoma	HP:0040278
9049	AIP	Spinal canal stenosis	HP:0003416
9049	AIP	Fatigue	HP:0012378
9049	AIP	Menstrual irregularities	HP:0000858
9049	AIP	Sudden loss of visual acuity	HP:0001117
9049	AIP	Abnormality of hair density	HP:0011357
9049	AIP	Tall stature	HP:0000098
9049	AIP	Fourth cranial nerve palsy	HP:0007011
9049	AIP	Decreased fertility in females	HP:0000868
9049	AIP	Cardiomyopathy	HP:0001638
9049	AIP	Prolactin excess	HP:0000870
9049	AIP	Hypertrophic cardiomyopathy	HP:0001639
9049	AIP	Decreased circulating ACTH level	HP:0002920
9049	AIP	Joint swelling	HP:0001386
9049	AIP	Blindness	HP:0000618
9049	AIP	Oligomenorrhea	HP:0000876
9049	AIP	Pituitary prolactin cell adenoma	HP:0006767
9049	AIP	Mitral regurgitation	HP:0001653
9049	AIP	Skeletal muscle atrophy	HP:0003202
9049	AIP	Ecchymosis	HP:0031364
9049	AIP	Female hypogonadism	HP:0000134
9049	AIP	Vertebral compression fractures	HP:0002953
9049	AIP	Diplopia	HP:0000651
9049	AIP	Amenorrhea	HP:0000141
9049	AIP	Macrotia	HP:0000400
9049	AIP	Somatic mutation	HP:0001428
9049	AIP	Large hands	HP:0001176
9049	AIP	Synophrys	HP:0000664
9049	AIP	Alkalosis	HP:0001948
9049	AIP	Macroglossia	HP:0000158
9049	AIP	Tapered finger	HP:0001182
9049	AIP	Glucose intolerance	HP:0001952
9049	AIP	Dysuria	HP:0100518
9049	AIP	Osteopenia	HP:0000938
9049	AIP	Osteoporosis	HP:0000939
9049	AIP	Widely spaced teeth	HP:0000687
9049	AIP	Left ventricular hypertrophy	HP:0001712
9049	AIP	Thick lower lip vermilion	HP:0000179
9049	AIP	Hypersomnia	HP:0100786
9049	AIP	Cerebral palsy	HP:0100021
9049	AIP	Generalized hirsutism	HP:0002230
9049	AIP	Acanthosis nigricans	HP:0000956
9049	AIP	Wide nose	HP:0000445
9049	AIP	Palpebral edema	HP:0100540
9049	AIP	Thin skin	HP:0000963
9049	AIP	Abnormal toenail morphology	HP:0008388
9049	AIP	Osteoarthritis	HP:0002758
9049	AIP	Abdominal obesity	HP:0012743
9049	AIP	Edema	HP:0000969
9049	AIP	Depressivity	HP:0000716
9049	AIP	Hyperhidrosis	HP:0000975
9049	AIP	Abnormal fingernail morphology	HP:0001231
9049	AIP	Bruising susceptibility	HP:0000978
9049	AIP	Pallor	HP:0000980
9049	AIP	Oculomotor nerve palsy	HP:0012246
9049	AIP	Frontal bossing	HP:0002007
9049	AIP	Adrenocorticotropin deficient adrenal insufficiency	HP:0011735
9049	AIP	Galactorrhea	HP:0100829
9049	AIP	Vomiting	HP:0002013
9049	AIP	Seizures	HP:0001250
9049	AIP	Anxiety	HP:0000739
9049	AIP	Adrenocorticotropic hormone deficiency	HP:0011748
9049	AIP	Broad foot	HP:0001769
9049	AIP	Obesity	HP:0001513
9049	AIP	Biconcave vertebral bodies	HP:0004586
9049	AIP	Hirsutism	HP:0001007
9049	AIP	Pituitary growth hormone cell adenoma	HP:0011760
9049	AIP	Cranial nerve VI palsy	HP:0006897
9049	AIP	Abnormal fear/anxiety-related behavior	HP:0100852
9049	AIP	Kyphosis	HP:0002808
9049	AIP	Ptosis	HP:0000508
9049	AIP	Dysmenorrhea	HP:0100607
859	CAV3	Skeletal muscle hypertrophy	HP:0003712
859	CAV3	EMG abnormality	HP:0003457
859	CAV3	EMG: myopathic abnormalities	HP:0003458
859	CAV3	Muscle spasm	HP:0003394
859	CAV3	Calf muscle hypoplasia	HP:0008962
859	CAV3	Autosomal dominant inheritance	HP:0000006
859	CAV3	Asymmetric septal hypertrophy	HP:0001670
859	CAV3	Muscle mounding	HP:0003719
859	CAV3	Exercise-induced muscle stiffness	HP:0008967
859	CAV3	Clumsiness	HP:0002312
859	CAV3	Abnormal muscle fiber protein expression	HP:0030089
859	CAV3	Progressive pes cavus	HP:0008075
859	CAV3	Abnormality of muscle fibers	HP:0004303
859	CAV3	Heterogeneous	HP:0001425
859	CAV3	Abnormal circulating creatine kinase concentration	HP:0040081
859	CAV3	Subvalvular aortic stenosis	HP:0001682
859	CAV3	Neck muscle weakness	HP:0000467
859	CAV3	Abnormality of metabolism/homeostasis	HP:0001939
859	CAV3	Ventricular arrhythmia	HP:0004308
859	CAV3	Calf muscle hypertrophy	HP:0008981
859	CAV3	Sinus bradycardia	HP:0001688
859	CAV3	Mitochondrial myopathy	HP:0003737
859	CAV3	Fatigue	HP:0012378
859	CAV3	Exercise-induced myalgia	HP:0003738
859	CAV3	Arrhythmia	HP:0011675
859	CAV3	Cardiac arrest	HP:0001695
859	CAV3	Pes cavus	HP:0001761
859	CAV3	Sudden death	HP:0001699
859	CAV3	Congestive heart failure	HP:0001635
859	CAV3	Elevated serum creatine kinase	HP:0003236
859	CAV3	Increased variability in muscle fiber diameter	HP:0003557
859	CAV3	Increased muscle fatiguability	HP:0003750
859	CAV3	Muscle hyperirritability	HP:0003559
859	CAV3	Progressive distal muscle weakness	HP:0009063
859	CAV3	Muscular dystrophy	HP:0003560
859	CAV3	Palpitations	HP:0001962
859	CAV3	Weakness of the intrinsic hand muscles	HP:0009005
859	CAV3	Inflammatory myopathy	HP:0009071
859	CAV3	Percussion-induced rapid rolling muscle contractions	HP:0003760
859	CAV3	Hypercholesterolemia	HP:0003124
859	CAV3	Prolonged QT interval	HP:0001657
859	CAV3	Intrinsic hand muscle atrophy	HP:0008954
859	CAV3	Calf muscle pseudohypertrophy	HP:0003707
859	CAV3	Adult onset	HP:0003581
859	CAV3	Exercise-induced muscle cramps	HP:0003710
859	CAV3	Myalgia	HP:0003326
9051	PSTPIP1	Limitation of joint mobility	HP:0001376
9051	PSTPIP1	Pustule	HP:0200039
9051	PSTPIP1	Acne	HP:0001061
9051	PSTPIP1	Autosomal dominant inheritance	HP:0000006
9051	PSTPIP1	Myositis	HP:0100614
9051	PSTPIP1	Pyoderma	HP:0000999
9051	PSTPIP1	Skin ulcer	HP:0200042
9051	PSTPIP1	Type I diabetes mellitus	HP:0100651
9051	PSTPIP1	Pyoderma gangrenosum	HP:0025452
9051	PSTPIP1	Arthralgia	HP:0002829
9051	PSTPIP1	Increased antibody level in blood	HP:0010702
9051	PSTPIP1	Crohn's disease	HP:0100280
9051	PSTPIP1	Fever	HP:0001945
9051	PSTPIP1	Arthritis	HP:0001369
9051	PSTPIP1	Fatigue	HP:0012378
9051	PSTPIP1	Lymphadenopathy	HP:0002716
9051	PSTPIP1	Proteinuria	HP:0000093
860	RUNX2	Absent frontal sinuses	HP:0002688
860	RUNX2	Macrocephaly	HP:0000256
860	RUNX2	Short femoral neck	HP:0100864
860	RUNX2	Absent paranasal sinuses	HP:0002689
860	RUNX2	Brachydactyly	HP:0001156
860	RUNX2	Aplastic clavicle	HP:0006660
860	RUNX2	Abnormality of the ribs	HP:0000772
860	RUNX2	Short ribs	HP:0000773
860	RUNX2	Chronic otitis media	HP:0000389
860	RUNX2	Narrow chest	HP:0000774
860	RUNX2	Autosomal dominant inheritance	HP:0000006
860	RUNX2	Abnormal facility in opposing the shoulders	HP:0005259
860	RUNX2	Abnormality of the metacarpal bones	HP:0001163
860	RUNX2	Large foramen magnum	HP:0002700
860	RUNX2	Moderately short stature	HP:0008848
860	RUNX2	Malar flattening	HP:0000272
860	RUNX2	High, narrow palate	HP:0002705
860	RUNX2	Dystrophic toenail	HP:0001810
860	RUNX2	Abnormal thumb morphology	HP:0001172
860	RUNX2	Midface retrusion	HP:0011800
860	RUNX2	Long second metacarpal	HP:0006040
860	RUNX2	Hypoplasia of dental enamel	HP:0006297
860	RUNX2	Recurrent respiratory infections	HP:0002205
860	RUNX2	Metaphyseal dysplasia	HP:0100255
860	RUNX2	Platyspondyly	HP:0000926
860	RUNX2	Tapered finger	HP:0001182
860	RUNX2	Carious teeth	HP:0000670
860	RUNX2	Depressed nasal bridge	HP:0005280
860	RUNX2	Glossoptosis	HP:0000162
860	RUNX2	Sleep apnea	HP:0010535
860	RUNX2	Delayed eruption of primary teeth	HP:0000680
860	RUNX2	Genu valgum	HP:0002857
860	RUNX2	Abnormality of epiphysis morphology	HP:0005930
860	RUNX2	Abnormality of dental enamel	HP:0000682
860	RUNX2	Osteoporosis	HP:0000939
860	RUNX2	Delayed eruption of teeth	HP:0000684
860	RUNX2	Hypoplasia of the zygomatic bone	HP:0010669
860	RUNX2	Cleft palate	HP:0000175
860	RUNX2	Mandibular prognathia	HP:0000303
860	RUNX2	Hypoplastic frontal sinuses	HP:0002738
860	RUNX2	Hypoplastic iliac wing	HP:0002866
860	RUNX2	Open bite	HP:0010807
860	RUNX2	Delayed eruption of permanent teeth	HP:0000696
860	RUNX2	Hypertelorism	HP:0000316
860	RUNX2	Convex nasal ridge	HP:0000444
860	RUNX2	Increased number of teeth	HP:0011069
860	RUNX2	Short 5th metacarpal	HP:0010047
860	RUNX2	Short philtrum	HP:0000322
860	RUNX2	Syringomyelia	HP:0003396
860	RUNX2	Recurrent fractures	HP:0002757
860	RUNX2	Flared metaphysis	HP:0003015
860	RUNX2	Hypoplasia of the maxilla	HP:0000327
860	RUNX2	Dystrophic fingernails	HP:0008391
860	RUNX2	Premature loss of teeth	HP:0006480
860	RUNX2	Broad forehead	HP:0000337
860	RUNX2	Neonatal respiratory distress	HP:0002643
860	RUNX2	Short face	HP:0011219
860	RUNX2	Delayed pubic bone ossification	HP:0008788
860	RUNX2	Sloping forehead	HP:0000340
860	RUNX2	Wormian bones	HP:0002645
860	RUNX2	Down-sloping shoulders	HP:0200021
860	RUNX2	Frontal bossing	HP:0002007
860	RUNX2	Scoliosis	HP:0002650
860	RUNX2	Micrognathia	HP:0000347
860	RUNX2	Skeletal dysplasia	HP:0002652
860	RUNX2	Short stature	HP:0004322
860	RUNX2	Spina bifida occulta	HP:0003298
860	RUNX2	Increased susceptibility to fractures	HP:0002659
860	RUNX2	Spondylolisthesis	HP:0003302
860	RUNX2	Spondylolysis	HP:0003304
860	RUNX2	Short middle phalanx of the 2nd finger	HP:0009577
860	RUNX2	Thin vermilion border	HP:0000233
860	RUNX2	Decreased skull ossification	HP:0004331
860	RUNX2	Hearing impairment	HP:0000365
860	RUNX2	Wide pubic symphysis	HP:0003183
860	RUNX2	Large fontanelles	HP:0000239
860	RUNX2	Clinodactyly of the 5th finger	HP:0004209
860	RUNX2	Hypoplastic scapulae	HP:0000882
860	RUNX2	Parietal bossing	HP:0000242
860	RUNX2	Abnormal sacrum morphology	HP:0005107
860	RUNX2	Multiple small vertebral fractures	HP:0005877
860	RUNX2	Hypoplastic inferior ilia	HP:0008821
860	RUNX2	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
860	RUNX2	Sinusitis	HP:0000246
860	RUNX2	Kyphosis	HP:0002808
860	RUNX2	Brachycephaly	HP:0000248
860	RUNX2	Increased bone mineral density	HP:0011001
860	RUNX2	Osteoporosis of vertebrae	HP:0005625
860	RUNX2	Persistent open anterior fontanelle	HP:0004474
860	RUNX2	Cervical ribs	HP:0000891
860	RUNX2	Thickened calvaria	HP:0002684
860	RUNX2	Coxa vara	HP:0002812
860	RUNX2	Short middle phalanx of the 5th finger	HP:0004220
860	RUNX2	Short clavicles	HP:0000894
860	RUNX2	Dimple chin	HP:0010751
861	RUNX1	Prolonged bleeding time	HP:0003010
861	RUNX1	Epistaxis	HP:0000421
861	RUNX1	Autosomal dominant inheritance	HP:0000006
861	RUNX1	Thrombocytosis	HP:0001894
861	RUNX1	Acute myeloid leukemia	HP:0004808
861	RUNX1	Lymphoma	HP:0002665
861	RUNX1	Myeloproliferative disorder	HP:0005547
861	RUNX1	Poor appetite	HP:0004396
861	RUNX1	Acute monocytic leukemia	HP:0004845
861	RUNX1	Myelodysplasia	HP:0002863
861	RUNX1	Abnormal alpha granule content	HP:0012527
861	RUNX1	Splenomegaly	HP:0001744
861	RUNX1	Abnormal dense granule content	HP:0012529
861	RUNX1	Thrombocytopenia	HP:0001873
861	RUNX1	Bruising susceptibility	HP:0000978
861	RUNX1	Impaired platelet aggregation	HP:0003540
861	RUNX1	Somatic mutation	HP:0001428
861	RUNX1	Leukocytosis	HP:0001974
861	RUNX1	Abnormal basophil morphology	HP:0001912
861	RUNX1	Fever	HP:0001945
861	RUNX1	Fatigue	HP:0012378
861	RUNX1	Neuroblastoma	HP:0003006
9056	SLC7A7	Hepatomegaly	HP:0002240
9056	SLC7A7	Skeletal muscle atrophy	HP:0003202
9056	SLC7A7	Hyperammonemia	HP:0001987
9056	SLC7A7	Recurrent fractures	HP:0002757
9056	SLC7A7	Pancreatitis	HP:0001733
9056	SLC7A7	Sparse hair	HP:0008070
9056	SLC7A7	Autosomal recessive inheritance	HP:0000007
9056	SLC7A7	Infantile onset	HP:0003593
9056	SLC7A7	Generalized hypotonia	HP:0001290
9056	SLC7A7	Cutis laxa	HP:0000973
9056	SLC7A7	Hyperextensible skin	HP:0000974
9056	SLC7A7	Splenomegaly	HP:0001744
9056	SLC7A7	Thrombocytopenia	HP:0001873
9056	SLC7A7	Increased serum ferritin	HP:0003281
9056	SLC7A7	Oroticaciduria	HP:0003218
9056	SLC7A7	Psychotic episodes	HP:0000725
9056	SLC7A7	Leukopenia	HP:0001882
9056	SLC7A7	Aminoaciduria	HP:0003355
9056	SLC7A7	Vomiting	HP:0002013
9056	SLC7A7	Diarrhea	HP:0002014
9056	SLC7A7	Pulmonary hemorrhage	HP:0040223
9056	SLC7A7	Nausea	HP:0002018
9056	SLC7A7	Short stature	HP:0004322
9056	SLC7A7	Failure to thrive	HP:0001508
9056	SLC7A7	Truncal obesity	HP:0001956
9056	SLC7A7	Muscular hypotonia	HP:0001252
9056	SLC7A7	Fine hair	HP:0002213
9056	SLC7A7	Increased serum lactate	HP:0002151
9056	SLC7A7	Malnutrition	HP:0004395
9056	SLC7A7	Coma	HP:0001259
9056	SLC7A7	Osteoporosis	HP:0000939
9056	SLC7A7	Muscle weakness	HP:0001324
9056	SLC7A7	Respiratory insufficiency	HP:0002093
9056	SLC7A7	Anemia	HP:0001903
9056	SLC7A7	Alveolar proteinosis	HP:0006517
9056	SLC7A7	Hemophagocytosis	HP:0012156
9056	SLC7A7	Delayed skeletal maturation	HP:0002750
9056	SLC7A7	Stage 5 chronic kidney disease	HP:0003774
865	CBFB	Somatic mutation	HP:0001428
865	CBFB	Autosomal dominant inheritance	HP:0000006
865	CBFB	Acute myeloid leukemia	HP:0004808
866	SERPINA6	Abnormality of metabolism/homeostasis	HP:0001939
866	SERPINA6	Hypertension	HP:0000822
866	SERPINA6	Autosomal dominant inheritance	HP:0000006
866	SERPINA6	Increased muscle fatiguability	HP:0003750
866	SERPINA6	Autosomal recessive inheritance	HP:0000007
866	SERPINA6	Hypotension	HP:0002615
867	CBL	Triangular face	HP:0000325
867	CBL	Chylothorax	HP:0010310
867	CBL	Autosomal dominant inheritance	HP:0000006
867	CBL	Sparse hair	HP:0008070
867	CBL	Generalized hypotonia	HP:0001290
867	CBL	Macrotia	HP:0000400
867	CBL	Webbed neck	HP:0000465
867	CBL	Deep philtrum	HP:0002002
867	CBL	Wide intermamillary distance	HP:0006610
867	CBL	Somatic mutation	HP:0001428
867	CBL	Short neck	HP:0000470
867	CBL	Long philtrum	HP:0000343
867	CBL	Cubitus valgus	HP:0002967
867	CBL	Frontal bossing	HP:0002007
867	CBL	Polyhydramnios	HP:0001561
867	CBL	Cryptorchidism	HP:0000028
867	CBL	Epicanthus	HP:0000286
867	CBL	Depressed nasal bridge	HP:0005280
867	CBL	Short stature	HP:0004322
867	CBL	Fine hair	HP:0002213
867	CBL	Posteriorly rotated ears	HP:0000358
867	CBL	Joint hypermobility	HP:0001382
867	CBL	Lymphedema	HP:0001004
867	CBL	Joint laxity	HP:0001388
867	CBL	Downslanted palpebral fissures	HP:0000494
867	CBL	Delayed speech and language development	HP:0000750
867	CBL	Bicuspid aortic valve	HP:0001647
867	CBL	Global developmental delay	HP:0001263
867	CBL	Low-set ears	HP:0000369
867	CBL	Juvenile myelomonocytic leukemia	HP:0012209
867	CBL	Aortic valve stenosis	HP:0001650
867	CBL	Mitral regurgitation	HP:0001653
867	CBL	Thick vermilion border	HP:0012471
867	CBL	Hypertelorism	HP:0000316
867	CBL	Ptosis	HP:0000508
867	CBL	Cafe-au-lait spot	HP:0000957
867	CBL	Pectus excavatum	HP:0000767
9060	PAPSS2	Short stature	HP:0004322
9060	PAPSS2	Bowing of the legs	HP:0002979
9060	PAPSS2	Brachydactyly	HP:0001156
9060	PAPSS2	Irregular vertebral endplates	HP:0003301
9060	PAPSS2	Secondary amenorrhea	HP:0000869
9060	PAPSS2	Acne	HP:0001061
9060	PAPSS2	Autosomal recessive inheritance	HP:0000007
9060	PAPSS2	Hirsutism	HP:0001007
9060	PAPSS2	Lumbar scoliosis	HP:0004626
9060	PAPSS2	Lower limb undergrowth	HP:0009816
9060	PAPSS2	Spondyloepimetaphyseal dysplasia	HP:0002651
9060	PAPSS2	Premature pubarche	HP:0012411
9060	PAPSS2	Platyspondyly	HP:0000926
9060	PAPSS2	Kyphoscoliosis	HP:0002751
871	SERPINH1	Chronic lung disease	HP:0006528
871	SERPINH1	Relative macrocephaly	HP:0004482
871	SERPINH1	Triangular face	HP:0000325
871	SERPINH1	Narrow chest	HP:0000774
871	SERPINH1	Autosomal recessive inheritance	HP:0000007
871	SERPINH1	Generalized joint laxity	HP:0002761
871	SERPINH1	Vertebral compression fractures	HP:0002953
871	SERPINH1	Shallow orbits	HP:0000586
871	SERPINH1	Generalized hypotonia	HP:0001290
871	SERPINH1	Malar flattening	HP:0000272
871	SERPINH1	Blue sclerae	HP:0000592
871	SERPINH1	Nephrolithiasis	HP:0000787
871	SERPINH1	High pitched voice	HP:0001620
871	SERPINH1	Prominent forehead	HP:0011220
871	SERPINH1	Narrow forehead	HP:0000341
871	SERPINH1	Inguinal hernia	HP:0000023
871	SERPINH1	Midface retrusion	HP:0011800
871	SERPINH1	Scoliosis	HP:0002650
871	SERPINH1	Micrognathia	HP:0000347
871	SERPINH1	High forehead	HP:0000348
871	SERPINH1	Platyspondyly	HP:0000926
871	SERPINH1	Short stature	HP:0004322
871	SERPINH1	Pyloric stenosis	HP:0002021
871	SERPINH1	Micromelia	HP:0002983
871	SERPINH1	Genu valgum	HP:0002857
871	SERPINH1	Osteopenia	HP:0000938
871	SERPINH1	Joint laxity	HP:0001388
871	SERPINH1	Thin ribs	HP:0000883
871	SERPINH1	Broad ribs	HP:0000885
871	SERPINH1	Dentinogenesis imperfecta	HP:0000703
875	CBS	Pectus carinatum	HP:0000768
875	CBS	Urticaria	HP:0001025
875	CBS	Amblyopia	HP:0000646
875	CBS	Cataract	HP:0000518
875	CBS	Autosomal recessive inheritance	HP:0000007
875	CBS	Optic atrophy	HP:0000648
875	CBS	Subcutaneous hemorrhage	HP:0001933
875	CBS	Arachnodactyly	HP:0001166
875	CBS	Stroke	HP:0001297
875	CBS	Hemiplegia/hemiparesis	HP:0004374
875	CBS	Inguinal hernia	HP:0000023
875	CBS	Abnormality of retinal pigmentation	HP:0007703
875	CBS	Pulmonary embolism	HP:0002204
875	CBS	Retinal detachment	HP:0000541
875	CBS	Myopia	HP:0000545
875	CBS	Sparse scalp hair	HP:0002209
875	CBS	Hypermethioninemia	HP:0003235
875	CBS	Dental crowding	HP:0000678
875	CBS	Genu valgum	HP:0002857
875	CBS	Osteoporosis	HP:0000939
875	CBS	Personality disorder	HP:0012075
875	CBS	Hypertension	HP:0000822
875	CBS	Hernia	HP:0100790
875	CBS	Ectopia lentis	HP:0001083
875	CBS	Arteriovenous malformation	HP:0100026
875	CBS	Kyphoscoliosis	HP:0002751
875	CBS	Gastrointestinal hemorrhage	HP:0002239
875	CBS	Hepatomegaly	HP:0002240
875	CBS	Behavioral abnormality	HP:0000708
875	CBS	Arterial thrombosis	HP:0004420
875	CBS	Pancreatitis	HP:0001733
875	CBS	Cutis marmorata	HP:0000965
875	CBS	Psychosis	HP:0000709
875	CBS	Recurrent fractures	HP:0002757
875	CBS	Venous thrombosis	HP:0004936
875	CBS	Depressivity	HP:0000716
875	CBS	Cerebral ischemia	HP:0002637
875	CBS	Scoliosis	HP:0002650
875	CBS	High palate	HP:0000218
875	CBS	Elevated hepatic transaminase	HP:0002910
875	CBS	Generalized osteoporosis	HP:0040160
875	CBS	Limitation of joint mobility	HP:0001376
875	CBS	Intellectual disability	HP:0001249
875	CBS	Seizures	HP:0001250
875	CBS	Tall stature	HP:0000098
875	CBS	Mitral valve prolapse	HP:0001634
875	CBS	Failure to thrive	HP:0001508
875	CBS	Biconcave vertebral bodies	HP:0004586
875	CBS	Joint stiffness	HP:0001387
875	CBS	Lens subluxation	HP:0001132
875	CBS	Homocystinuria	HP:0002156
875	CBS	Disproportionate tall stature	HP:0001519
875	CBS	Global developmental delay	HP:0001263
875	CBS	Hyperhomocystinemia	HP:0002160
875	CBS	Abnormality of amino acid metabolism	HP:0004337
875	CBS	Hypopigmentation of the skin	HP:0001010
875	CBS	Thromboembolism	HP:0001907
875	CBS	Glaucoma	HP:0000501
875	CBS	Hepatic steatosis	HP:0001397
875	CBS	Anorexia	HP:0002039
875	CBS	Esophageal varix	HP:0002040
875	CBS	Kyphosis	HP:0002808
875	CBS	Visual impairment	HP:0000505
875	CBS	Myocardial infarction	HP:0001658
875	CBS	Intracranial hemorrhage	HP:0002170
875	CBS	Brittle hair	HP:0002299
875	CBS	Pectus excavatum	HP:0000767
9071	CLDN10	Renal insufficiency	HP:0000083
9071	CLDN10	Nephrolithiasis	HP:0000787
9071	CLDN10	Hypokalemia	HP:0002900
9071	CLDN10	Hypohidrosis	HP:0000966
9071	CLDN10	Hypermagnesemia	HP:0002918
9071	CLDN10	Hypocalciuria	HP:0003127
9071	CLDN10	Polyuria	HP:0000103
9071	CLDN10	Dry skin	HP:0000958
9071	CLDN10	Heat intolerance	HP:0002046
90993	CREB3L1	Mesomelia	HP:0003027
90993	CREB3L1	Autosomal recessive inheritance	HP:0000007
90993	CREB3L1	Rhizomelia	HP:0008905
90993	CREB3L1	Congenital onset	HP:0003577
90993	CREB3L1	Beaded ribs	HP:0000923
90993	CREB3L1	Hearing impairment	HP:0000365
90993	CREB3L1	Small for gestational age	HP:0001518
9076	CLDN1	Hepatomegaly	HP:0002240
9076	CLDN1	Ichthyosis	HP:0008064
9076	CLDN1	Portal hypertension	HP:0001409
9076	CLDN1	Epidermal acanthosis	HP:0025092
9076	CLDN1	Autosomal recessive inheritance	HP:0000007
9076	CLDN1	Cholangitis	HP:0030151
9076	CLDN1	Scarring alopecia of scalp	HP:0004552
9076	CLDN1	Thick hair	HP:0100874
9076	CLDN1	Parakeratosis	HP:0001036
9076	CLDN1	Sparse eyelashes	HP:0000653
9076	CLDN1	Abnormality of blood and blood-forming tissues	HP:0001871
9076	CLDN1	Splenomegaly	HP:0001744
9076	CLDN1	Sparse and thin eyebrow	HP:0000535
9076	CLDN1	Hypoplasia of dental enamel	HP:0006297
9076	CLDN1	Hypodontia	HP:0000668
9076	CLDN1	Orthokeratosis	HP:0040162
9076	CLDN1	Oligodontia	HP:0000677
9076	CLDN1	Abnormality of dental enamel	HP:0000682
9076	CLDN1	Hypotrichosis of the scalp	HP:0004782
9076	CLDN1	Hypotrichosis	HP:0001006
9076	CLDN1	Sparse body hair	HP:0002231
9076	CLDN1	Jaundice	HP:0000952
9076	CLDN1	Acanthosis nigricans	HP:0000956
9076	CLDN1	Alopecia	HP:0001596
9076	CLDN1	Dry skin	HP:0000958
889	KRIT1	Choroidal hemangioma	HP:0007872
889	KRIT1	Abnormality of the musculature	HP:0003011
889	KRIT1	Autosomal dominant inheritance	HP:0000006
889	KRIT1	Headache	HP:0002315
889	KRIT1	Vascular skin abnormality	HP:0011276
889	KRIT1	Episodic vomiting	HP:0002572
889	KRIT1	Focal T2 hyperintense brainstem lesion	HP:0012748
889	KRIT1	Focal T2 hypointense brainstem lesion	HP:0012749
889	KRIT1	Spinal cord lesion	HP:0100561
889	KRIT1	Heterogeneous	HP:0001425
889	KRIT1	Cerebral calcification	HP:0002514
889	KRIT1	Increased intracranial pressure	HP:0002516
889	KRIT1	Scoliosis	HP:0002650
889	KRIT1	Neuroma	HP:0030430
889	KRIT1	Seizures	HP:0001250
889	KRIT1	Meningioma	HP:0002858
889	KRIT1	Hepatic vascular malformations	HP:0006576
889	KRIT1	Venous malformation	HP:0012721
889	KRIT1	Retinal vascular malformation	HP:0007797
889	KRIT1	Incomplete penetrance	HP:0003829
889	KRIT1	Abnormality of the skin	HP:0000951
889	KRIT1	Retinal cavernous angioma	HP:0011513
889	KRIT1	Intracranial hemorrhage	HP:0002170
889	KRIT1	Cognitive impairment	HP:0100543
889	KRIT1	Cerebral hemorrhage	HP:0001342
9081	PRY	Y-linked inheritance	HP:0001450
9081	PRY	Azoospermia	HP:0000027
9082	XKRY	Y-linked inheritance	HP:0001450
9082	XKRY	Azoospermia	HP:0000027
9083	BPY2	Y-linked inheritance	HP:0001450
9083	BPY2	Azoospermia	HP:0000027
9084	VCY	Y-linked inheritance	HP:0001450
9084	VCY	Azoospermia	HP:0000027
9085	CDY1	Y-linked inheritance	HP:0001450
9085	CDY1	Azoospermia	HP:0000027
894	CCND2	Absent speech	HP:0001344
894	CCND2	Macrocephaly	HP:0000256
894	CCND2	Narrow mouth	HP:0000160
894	CCND2	Depressed nasal bridge	HP:0005280
894	CCND2	Seizures	HP:0001250
894	CCND2	Autosomal dominant inheritance	HP:0000006
894	CCND2	Ventriculomegaly	HP:0002119
894	CCND2	Postaxial hand polydactyly	HP:0001162
894	CCND2	Megalencephaly	HP:0001355
894	CCND2	Polymicrogyria	HP:0002126
894	CCND2	Hydrocephalus	HP:0000238
894	CCND2	Global developmental delay	HP:0001263
894	CCND2	Abnormal nasal morphology	HP:0005105
894	CCND2	Prominent forehead	HP:0011220
894	CCND2	Mitral regurgitation	HP:0001653
894	CCND2	Congenital onset	HP:0003577
894	CCND2	Telecanthus	HP:0000506
894	CCND2	High forehead	HP:0000348
894	CCND2	Hypertelorism	HP:0000316
894	CCND2	Ventricular septal defect	HP:0001629
894	CCND2	Abnormal localization of kidney	HP:0100542
899	CCNF	Nausea and vomiting	HP:0002017
899	CCNF	Skeletal muscle atrophy	HP:0003202
899	CCNF	Muscle spasm	HP:0003394
899	CCNF	Anxiety	HP:0000739
899	CCNF	Neurodegeneration	HP:0002180
899	CCNF	Emotional lability	HP:0000712
899	CCNF	Spasticity	HP:0001257
899	CCNF	Agitation	HP:0000713
899	CCNF	Depressivity	HP:0000716
899	CCNF	Paralysis	HP:0003470
899	CCNF	Dyspnea	HP:0002094
899	CCNF	Laryngospasm	HP:0025425
899	CCNF	Fatigable weakness of swallowing muscles	HP:0030195
899	CCNF	Pain	HP:0012531
899	CCNF	Fatigable weakness of respiratory muscles	HP:0030196
899	CCNF	Xerostomia	HP:0000217
899	CCNF	Amyotrophic lateral sclerosis	HP:0007354
899	CCNF	Fatigue	HP:0012378
899	CCNF	Generalized muscle weakness	HP:0003324
899	CCNF	Respiratory failure	HP:0002878
9094	UNC119	Lymphopenia	HP:0001888
9094	UNC119	Immunodeficiency	HP:0002721
9094	UNC119	Recurrent sinusitis	HP:0011108
9094	UNC119	Photophobia	HP:0000613
9094	UNC119	Autosomal dominant inheritance	HP:0000006
9094	UNC119	Color vision defect	HP:0000551
9094	UNC119	Bronchiolitis obliterans organizing pneumonia	HP:0011945
9094	UNC119	Pneumonia	HP:0002090
9094	UNC119	Recurrent otitis media	HP:0000403
9094	UNC119	Recurrent shingles	HP:0032275
9094	UNC119	Nyctalopia	HP:0000662
9094	UNC119	Abnormality of retinal pigmentation	HP:0007703
9094	UNC119	Visual impairment	HP:0000505
9095	TBX19	Seizures	HP:0001250
9095	TBX19	Adrenal hypoplasia	HP:0000835
9095	TBX19	Decreased circulating cortisol level	HP:0008163
9095	TBX19	Adrenocorticotropic hormone deficiency	HP:0011748
9095	TBX19	Autosomal recessive inheritance	HP:0000007
9095	TBX19	Infantile onset	HP:0003593
9095	TBX19	Neonatal hypoglycemia	HP:0001998
9095	TBX19	Prolonged neonatal jaundice	HP:0006579
9095	TBX19	Hepatitis	HP:0012115
9095	TBX19	Hyponatremia	HP:0002902
9095	TBX19	Adrenocorticotropin deficient adrenal insufficiency	HP:0011735
9095	TBX19	Hypotension	HP:0002615
9095	TBX19	Fatigue	HP:0012378
9095	TBX19	Fasting hypoglycemia	HP:0003162
9095	TBX19	Hypoglycemic seizures	HP:0002173
9096	TBX18	Cystic renal dysplasia	HP:0000800
9096	TBX18	Multicystic kidney dysplasia	HP:0000003
9096	TBX18	Nephrotic syndrome	HP:0000100
9096	TBX18	Congenital megaureter	HP:0008676
9096	TBX18	Autosomal dominant inheritance	HP:0000006
9096	TBX18	Hydroureter	HP:0000072
9096	TBX18	Ureteropelvic junction obstruction	HP:0000074
9096	TBX18	Flank pain	HP:0030157
9096	TBX18	Renal dysplasia	HP:0000110
9096	TBX18	Renal insufficiency	HP:0000083
9096	TBX18	Renal sarcoma	HP:0008663
9096	TBX18	Renal hypoplasia	HP:0000089
9096	TBX18	Polyhydramnios	HP:0001561
9096	TBX18	Abnormality of the cardiovascular system	HP:0001626
9096	TBX18	Oligohydramnios	HP:0001562
9096	TBX18	Hydronephrosis	HP:0000126
9101	USP8	Metrorrhagia	HP:0100608
9101	USP8	Skeletal muscle atrophy	HP:0003202
9101	USP8	Ecchymosis	HP:0031364
9101	USP8	Menorrhagia	HP:0000132
9101	USP8	Avascular necrosis	HP:0010885
9101	USP8	Autosomal dominant inheritance	HP:0000006
9101	USP8	Bipolar affective disorder	HP:0007302
9101	USP8	Cataract	HP:0000518
9101	USP8	Autosomal recessive inheritance	HP:0000007
9101	USP8	Vertebral compression fractures	HP:0002953
9101	USP8	Headache	HP:0002315
9101	USP8	Generalized hyperpigmentation	HP:0007440
9101	USP8	Spastic gait	HP:0002064
9101	USP8	Facial erythema	HP:0001041
9101	USP8	Premature ovarian insufficiency	HP:0008209
9101	USP8	Nephrolithiasis	HP:0000787
9101	USP8	Infertility	HP:0000789
9101	USP8	Alkalosis	HP:0001948
9101	USP8	Adrenal hyperplasia	HP:0008221
9101	USP8	Glucose intolerance	HP:0001952
9101	USP8	Immunodeficiency	HP:0002721
9101	USP8	Poor wound healing	HP:0001058
9101	USP8	Truncal obesity	HP:0001956
9101	USP8	Lipodystrophy	HP:0009125
9101	USP8	Acne	HP:0001061
9101	USP8	Mood changes	HP:0001575
9101	USP8	Striae distensae	HP:0001065
9101	USP8	Osteoporosis	HP:0000939
9101	USP8	Onychomycosis	HP:0012203
9101	USP8	Recurrent skin infections	HP:0001581
9101	USP8	Diabetes mellitus	HP:0000819
9101	USP8	Hypertension	HP:0000822
9101	USP8	Generalized hirsutism	HP:0002230
9101	USP8	Round face	HP:0000311
9101	USP8	Sleep disturbance	HP:0002360
9101	USP8	Visual loss	HP:0000572
9101	USP8	Psychotic mentation	HP:0001345
9101	USP8	Thin skin	HP:0000963
9101	USP8	Psychosis	HP:0000709
9101	USP8	Recurrent fractures	HP:0002757
9101	USP8	Abdominal obesity	HP:0012743
9101	USP8	Venous thrombosis	HP:0004936
9101	USP8	Edema	HP:0000969
9101	USP8	Depressivity	HP:0000716
9101	USP8	Pituitary adenoma	HP:0002893
9101	USP8	Limb hypertonia	HP:0002509
9101	USP8	Increased circulating ACTH level	HP:0003154
9101	USP8	Bruising susceptibility	HP:0000978
9101	USP8	Hypokalemia	HP:0002900
9101	USP8	Fatigue	HP:0012378
9101	USP8	Lower limb hyperreflexia	HP:0002395
9101	USP8	Intellectual disability	HP:0001249
9101	USP8	Talipes equinovarus	HP:0001762
9101	USP8	Anxiety	HP:0000739
9101	USP8	Failure to thrive	HP:0001508
9101	USP8	Lethargy	HP:0001254
9101	USP8	Cardiomyopathy	HP:0001638
9101	USP8	Telangiectasia of the skin	HP:0100585
9101	USP8	Obesity	HP:0001513
9101	USP8	Biconcave vertebral bodies	HP:0004586
9101	USP8	Spastic paraplegia	HP:0001258
9101	USP8	Abdominal pain	HP:0002027
9101	USP8	Oligomenorrhea	HP:0000876
9101	USP8	Hirsutism	HP:0001007
9101	USP8	Abnormal fear/anxiety-related behavior	HP:0100852
9101	USP8	Kyphosis	HP:0002808
9101	USP8	Clonus	HP:0002169
9101	USP8	Myopathy	HP:0003198
9101	USP8	Nystagmus	HP:0000639
9103	FCGR2C	Thrombocytopenia	HP:0001873
9103	FCGR2C	Gingival bleeding	HP:0000225
9103	FCGR2C	Bruising susceptibility	HP:0000978
9103	FCGR2C	Thromboembolism	HP:0001907
9103	FCGR2C	Abnormal bleeding	HP:0001892
9103	FCGR2C	Arterial thrombosis	HP:0004420
9103	FCGR2C	Epistaxis	HP:0000421
9103	FCGR2C	Autosomal dominant inheritance	HP:0000006
9103	FCGR2C	Petechiae	HP:0000967
9103	FCGR2C	Platelet antibody positive	HP:0003454
9103	FCGR2C	Cerebral hemorrhage	HP:0001342
9103	FCGR2C	Gastrointestinal hemorrhage	HP:0002239
915	CD3D	Lymphopenia	HP:0001888
915	CD3D	Immunodeficiency	HP:0002721
915	CD3D	Recurrent otitis media	HP:0000403
915	CD3D	Failure to thrive	HP:0001508
915	CD3D	Autosomal recessive inheritance	HP:0000007
915	CD3D	Infantile onset	HP:0003593
915	CD3D	Recurrent respiratory infections	HP:0002205
915	CD3D	Diarrhea	HP:0002014
916	CD3E	Lymphopenia	HP:0001888
916	CD3E	Immunodeficiency	HP:0002721
916	CD3E	Recurrent gastroenteritis	HP:0031123
916	CD3E	Recurrent otitis media	HP:0000403
916	CD3E	Variable expressivity	HP:0003828
916	CD3E	Autosomal recessive inheritance	HP:0000007
916	CD3E	Decreased proportion of CD3-positive T cells	HP:0045080
916	CD3E	Infantile onset	HP:0003593
916	CD3E	Recurrent respiratory infections	HP:0002205
916	CD3E	Defective T cell proliferation	HP:0030253
917	CD3G	Immunodeficiency	HP:0002721
917	CD3G	Abnormal intestine morphology	HP:0002242
917	CD3G	Autoimmune hemolytic anemia	HP:0001890
917	CD3G	Recurrent otitis media	HP:0000403
917	CD3G	Recurrent gastroenteritis	HP:0031123
917	CD3G	Eczema	HP:0000964
917	CD3G	Failure to thrive	HP:0001508
917	CD3G	Variable expressivity	HP:0003828
917	CD3G	Decreased proportion of CD8-positive T cells	HP:0005415
917	CD3G	Autosomal recessive inheritance	HP:0000007
917	CD3G	Recurrent respiratory infections	HP:0002205
919	CD247	Limitation of joint mobility	HP:0001376
919	CD247	Protracted diarrhea	HP:0004385
919	CD247	Immunodeficiency	HP:0002721
919	CD247	Polyarticular arthritis	HP:0005764
919	CD247	Antinuclear antibody positivity	HP:0003493
919	CD247	Iridocyclitis	HP:0001094
919	CD247	Autosomal recessive inheritance	HP:0000007
919	CD247	Recurrent herpes	HP:0005353
919	CD247	Infantile onset	HP:0003593
919	CD247	Apraxia	HP:0002186
919	CD247	Joint swelling	HP:0001386
919	CD247	Arthralgia	HP:0002829
919	CD247	Elevated erythrocyte sedimentation rate	HP:0003565
919	CD247	Juvenile rheumatoid arthritis	HP:0005681
919	CD247	Dental malocclusion	HP:0000689
919	CD247	Eosinophilia	HP:0001880
919	CD247	Decrease in T cell count	HP:0005403
919	CD247	Elevated C-reactive protein level	HP:0011227
919	CD247	Joint dislocation	HP:0001373
920	CD4	Abnormal T cell morphology	HP:0002843
925	CD8A	Autosomal recessive inheritance	HP:0000007
925	CD8A	Congenital onset	HP:0003577
925	CD8A	Recurrent viral infections	HP:0004429
925	CD8A	Recurrent respiratory infections	HP:0002205
925	CD8A	Recurrent bacterial infections	HP:0002718
925	CD8A	Bronchiectasis	HP:0002110
925	CD8A	Absence of CD8-positive T cells	HP:0005422
91039	DPP9	Gastroesophageal reflux	HP:0002020
91039	DPP9	Clubbing of fingers	HP:0100759
91039	DPP9	Honeycomb lung	HP:0025175
91039	DPP9	Ground-glass opacification on pulmonary HRCT	HP:0025179
91039	DPP9	Exertional dyspnea	HP:0002875
91039	DPP9	Pulmonary insufficiency	HP:0010444
91039	DPP9	Crackles	HP:0030830
91039	DPP9	Pulmonary fibrosis	HP:0002206
91039	DPP9	Bronchiectasis	HP:0002110
91039	DPP9	Reticular pattern on pulmonary HRCT	HP:0025390
91039	DPP9	Cough	HP:0012735
930	CD19	Hepatomegaly	HP:0002240
930	CD19	Recurrent pneumonia	HP:0006532
930	CD19	Chronic otitis media	HP:0000389
930	CD19	Autosomal dominant inheritance	HP:0000006
930	CD19	Meningitis	HP:0001287
930	CD19	Autosomal recessive inheritance	HP:0000007
930	CD19	Vasculitis	HP:0002633
930	CD19	Arthralgia	HP:0002829
930	CD19	Autoimmunity	HP:0002960
930	CD19	Splenomegaly	HP:0001744
930	CD19	Recurrent otitis media	HP:0000403
930	CD19	Purpura	HP:0000979
930	CD19	Recurrent bronchitis	HP:0002837
930	CD19	Hemolytic anemia	HP:0001878
930	CD19	Decreased antibody level in blood	HP:0004313
930	CD19	Decreased circulating IgG level	HP:0004315
930	CD19	Lymphadenopathy	HP:0002716
930	CD19	Diarrhea	HP:0002014
930	CD19	Recurrent bacterial infections	HP:0002718
930	CD19	Elevated hepatic transaminase	HP:0002910
930	CD19	Decreased circulating IgA level	HP:0002720
930	CD19	Lymphopenia	HP:0001888
930	CD19	Immunodeficiency	HP:0002721
930	CD19	Decreased circulating total IgM	HP:0002850
930	CD19	Recurrent sinusitis	HP:0011108
930	CD19	Anal atresia	HP:0002023
930	CD19	Neoplasm	HP:0002664
930	CD19	Lymphoma	HP:0002665
930	CD19	Follicular hyperplasia	HP:0002729
930	CD19	Pneumonia	HP:0002090
930	CD19	Restrictive ventilatory defect	HP:0002091
930	CD19	Emphysema	HP:0002097
930	CD19	Gastrointestinal stroma tumor	HP:0100723
930	CD19	Autoimmune thrombocytopenia	HP:0001973
930	CD19	Brachycephaly	HP:0000248
930	CD19	Impaired T cell function	HP:0005435
930	CD19	Failure to thrive in infancy	HP:0001531
930	CD19	Conjunctivitis	HP:0000509
930	CD19	Bronchiectasis	HP:0002110
930	CD19	Posterior pharyngeal cleft	HP:0006783
931	MS4A1	Chronic otitis media	HP:0000389
931	MS4A1	Autosomal recessive inheritance	HP:0000007
931	MS4A1	Vasculitis	HP:0002633
931	MS4A1	Arthralgia	HP:0002829
931	MS4A1	Splenomegaly	HP:0001744
931	MS4A1	Purpura	HP:0000979
931	MS4A1	Recurrent bronchitis	HP:0002837
931	MS4A1	Hemolytic anemia	HP:0001878
931	MS4A1	Decreased antibody level in blood	HP:0004313
931	MS4A1	Lymphadenopathy	HP:0002716
931	MS4A1	Recurrent respiratory infections	HP:0002205
931	MS4A1	Recurrent bacterial infections	HP:0002718
931	MS4A1	Elevated hepatic transaminase	HP:0002910
931	MS4A1	Lymphopenia	HP:0001888
931	MS4A1	Immunodeficiency	HP:0002721
931	MS4A1	Anal atresia	HP:0002023
931	MS4A1	Lymphoma	HP:0002665
931	MS4A1	Pneumonia	HP:0002090
931	MS4A1	Restrictive ventilatory defect	HP:0002091
931	MS4A1	Emphysema	HP:0002097
931	MS4A1	Gastrointestinal stroma tumor	HP:0100723
931	MS4A1	Autoimmune thrombocytopenia	HP:0001973
931	MS4A1	Brachycephaly	HP:0000248
931	MS4A1	Failure to thrive in infancy	HP:0001531
931	MS4A1	Bronchiectasis	HP:0002110
931	MS4A1	Posterior pharyngeal cleft	HP:0006783
9126	SMC3	Multicystic kidney dysplasia	HP:0000003
9126	SMC3	Cataract	HP:0000518
9126	SMC3	Intestinal malrotation	HP:0002566
9126	SMC3	Autosomal dominant inheritance	HP:0000006
9126	SMC3	Congenital diaphragmatic hernia	HP:0000776
9126	SMC3	Hip dislocation	HP:0002827
9126	SMC3	Thick hair	HP:0100874
9126	SMC3	Long eyelashes	HP:0000527
9126	SMC3	Primary amenorrhea	HP:0000786
9126	SMC3	Volvulus	HP:0002580
9126	SMC3	Prenatal movement abnormality	HP:0001557
9126	SMC3	Short 5th finger	HP:0009237
9126	SMC3	Cryptorchidism	HP:0000028
9126	SMC3	Nevus flammeus	HP:0001052
9126	SMC3	Hypoplasia of penis	HP:0008736
9126	SMC3	Myopia	HP:0000545
9126	SMC3	Low anterior hairline	HP:0000294
9126	SMC3	Hypospadias	HP:0000047
9126	SMC3	Short 1st metacarpal	HP:0010034
9126	SMC3	Delayed puberty	HP:0000823
9126	SMC3	Sleep disturbance	HP:0002360
9126	SMC3	Hypoplastic labia majora	HP:0000059
9126	SMC3	Abnormally low-pitched voice	HP:0010300
9126	SMC3	Thick eyebrow	HP:0000574
9126	SMC3	Smooth philtrum	HP:0000319
9126	SMC3	Nasolacrimal duct obstruction	HP:0000579
9126	SMC3	Facial asymmetry	HP:0000324
9126	SMC3	Ventriculomegaly	HP:0002119
9126	SMC3	Cerebral cortical atrophy	HP:0002120
9126	SMC3	Hydroureter	HP:0000072
9126	SMC3	Vesicoureteral reflux	HP:0000076
9126	SMC3	Plagiocephaly	HP:0001357
9126	SMC3	Flat face	HP:0012368
9126	SMC3	Renal insufficiency	HP:0000083
9126	SMC3	Premature birth	HP:0001622
9126	SMC3	Long philtrum	HP:0000343
9126	SMC3	Micrognathia	HP:0000347
9126	SMC3	Talipes	HP:0001883
9126	SMC3	Ventricular septal defect	HP:0001629
9126	SMC3	Atrial septal defect	HP:0001631
9126	SMC3	Hooded eyelid	HP:0030820
9126	SMC3	Peripheral neuropathy	HP:0009830
9126	SMC3	Posteriorly rotated ears	HP:0000358
9126	SMC3	Hip dysplasia	HP:0001385
9126	SMC3	Attention deficit hyperactivity disorder	HP:0007018
9126	SMC3	Pulmonic stenosis	HP:0001642
9126	SMC3	Joint stiffness	HP:0001387
9126	SMC3	Patent ductus arteriosus	HP:0001643
9126	SMC3	Postnatal microcephaly	HP:0005484
9126	SMC3	Hearing impairment	HP:0000365
9126	SMC3	Bicuspid aortic valve	HP:0001647
9126	SMC3	Intellectual disability, severe	HP:0010864
9126	SMC3	Low-set, posteriorly rotated ears	HP:0000368
9126	SMC3	Clinodactyly of the 5th finger	HP:0004209
9126	SMC3	Low posterior hairline	HP:0002162
9126	SMC3	Small hand	HP:0200055
9126	SMC3	Neurological speech impairment	HP:0002167
9126	SMC3	Short nose	HP:0003196
9126	SMC3	Nystagmus	HP:0000639
9126	SMC3	Increased nuchal translucency	HP:0010880
9126	SMC3	Abnormality of the uterus	HP:0000130
9126	SMC3	Brachydactyly	HP:0001156
9126	SMC3	Oligodactyly	HP:0012165
9126	SMC3	Macrotia	HP:0000400
9126	SMC3	Severe postnatal growth retardation	HP:0008850
9126	SMC3	Conductive hearing impairment	HP:0000405
9126	SMC3	Sensorineural hearing impairment	HP:0000407
9126	SMC3	Proximal placement of thumb	HP:0009623
9126	SMC3	Synophrys	HP:0000664
9126	SMC3	Downturned corners of mouth	HP:0002714
9126	SMC3	Phthisis bulbi	HP:0000667
9126	SMC3	Atresia of the external auditory canal	HP:0000413
9126	SMC3	Radioulnar synostosis	HP:0002974
9126	SMC3	Bulbous nose	HP:0000414
9126	SMC3	Depressed nasal bridge	HP:0005280
9126	SMC3	Poor speech	HP:0002465
9126	SMC3	Truncal obesity	HP:0001956
9126	SMC3	Micromelia	HP:0002983
9126	SMC3	Feeding difficulties in infancy	HP:0008872
9126	SMC3	Prominent nasal bridge	HP:0000426
9126	SMC3	Delayed eruption of teeth	HP:0000684
9126	SMC3	Bilateral single transverse palmar creases	HP:0007598
9126	SMC3	Cleft palate	HP:0000175
9126	SMC3	Widely spaced teeth	HP:0000687
9126	SMC3	Microdontia	HP:0000691
9126	SMC3	Limited elbow movement	HP:0002996
9126	SMC3	Generalized hirsutism	HP:0002230
9126	SMC3	Single transverse palmar crease	HP:0000954
9126	SMC3	Congenital microcephaly	HP:0011451
9126	SMC3	Delayed skeletal maturation	HP:0002750
9126	SMC3	Cognitive impairment	HP:0100543
9126	SMC3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9126	SMC3	Delayed closure of the anterior fontanelle	HP:0001476
9126	SMC3	Cutis marmorata	HP:0000965
9126	SMC3	Choanal atresia	HP:0000453
9126	SMC3	Autism	HP:0000717
9126	SMC3	Anteverted nares	HP:0000463
9126	SMC3	Obsessive-compulsive behavior	HP:0000722
9126	SMC3	Short neck	HP:0000470
9126	SMC3	Frontal bossing	HP:0002007
9126	SMC3	High palate	HP:0000218
9126	SMC3	Thin upper lip vermilion	HP:0000219
9126	SMC3	Laterally extended eyebrow	HP:0011230
9126	SMC3	Intellectual disability	HP:0001249
9126	SMC3	Elbow dislocation	HP:0003042
9126	SMC3	Microcornea	HP:0000482
9126	SMC3	Short stature	HP:0004322
9126	SMC3	Seizures	HP:0001250
9126	SMC3	Anxiety	HP:0000739
9126	SMC3	Muscular hypotonia	HP:0001252
9126	SMC3	Gastroesophageal reflux	HP:0002020
9126	SMC3	Failure to thrive	HP:0001508
9126	SMC3	Pyloric stenosis	HP:0002021
9126	SMC3	Strabismus	HP:0000486
9126	SMC3	Intrauterine growth retardation	HP:0001511
9126	SMC3	Thin vermilion border	HP:0000233
9126	SMC3	Toe syndactyly	HP:0001770
9126	SMC3	Short foot	HP:0001773
9126	SMC3	Hirsutism	HP:0001007
9126	SMC3	Global developmental delay	HP:0001263
9126	SMC3	Curly eyelashes	HP:0007665
9126	SMC3	Blepharitis	HP:0000498
9126	SMC3	Glaucoma	HP:0000501
9126	SMC3	Brachycephaly	HP:0000248
9126	SMC3	Highly arched eyebrow	HP:0002553
9126	SMC3	Hypertonia	HP:0001276
9126	SMC3	Microcephaly	HP:0000252
9126	SMC3	Ptosis	HP:0000508
9126	SMC3	Hypoplastic nipples	HP:0002557
9126	SMC3	Pectus excavatum	HP:0000767
9128	PRPF4	Abnormal electroretinogram	HP:0000512
9128	PRPF4	Hyperreflexia	HP:0001347
9128	PRPF4	Cataract	HP:0000518
9128	PRPF4	Autosomal dominant inheritance	HP:0000006
9128	PRPF4	Hypogonadism	HP:0000135
9128	PRPF4	Optic atrophy	HP:0000648
9128	PRPF4	Hyperinsulinemia	HP:0000842
9128	PRPF4	Anteverted nares	HP:0000463
9128	PRPF4	Pallor	HP:0000980
9128	PRPF4	Conductive hearing impairment	HP:0000405
9128	PRPF4	Nyctalopia	HP:0000662
9128	PRPF4	Sensorineural hearing impairment	HP:0000407
9128	PRPF4	Abnormality of retinal pigmentation	HP:0007703
9128	PRPF4	Ophthalmoplegia	HP:0000602
9128	PRPF4	Type II diabetes mellitus	HP:0005978
9128	PRPF4	Atypical scarring of skin	HP:0000987
9128	PRPF4	Optic disc pallor	HP:0000543
9128	PRPF4	Hypoplasia of penis	HP:0008736
9128	PRPF4	Intellectual disability	HP:0001249
9128	PRPF4	Retinal degeneration	HP:0000546
9128	PRPF4	Abnormal testis morphology	HP:0000035
9128	PRPF4	Photophobia	HP:0000613
9128	PRPF4	Obesity	HP:0001513
9128	PRPF4	Blindness	HP:0000618
9128	PRPF4	Abnormal retinal vascular morphology	HP:0008046
9128	PRPF4	Wide nasal bridge	HP:0000431
9128	PRPF4	Keratoconus	HP:0000563
9128	PRPF4	Glaucoma	HP:0000501
9128	PRPF4	Progressive night blindness	HP:0007675
9128	PRPF4	Rod-cone dystrophy	HP:0000510
9128	PRPF4	Nystagmus	HP:0000639
9129	PRPF3	Abnormal electroretinogram	HP:0000512
9129	PRPF3	Hyperreflexia	HP:0001347
9129	PRPF3	Cataract	HP:0000518
9129	PRPF3	Autosomal dominant inheritance	HP:0000006
9129	PRPF3	Hypogonadism	HP:0000135
9129	PRPF3	Optic atrophy	HP:0000648
9129	PRPF3	Hyperinsulinemia	HP:0000842
9129	PRPF3	Anteverted nares	HP:0000463
9129	PRPF3	Conductive hearing impairment	HP:0000405
9129	PRPF3	Nyctalopia	HP:0000662
9129	PRPF3	Sensorineural hearing impairment	HP:0000407
9129	PRPF3	Abnormality of retinal pigmentation	HP:0007703
9129	PRPF3	Ophthalmoplegia	HP:0000602
9129	PRPF3	Type II diabetes mellitus	HP:0005978
9129	PRPF3	Atypical scarring of skin	HP:0000987
9129	PRPF3	Hypoplasia of penis	HP:0008736
9129	PRPF3	Intellectual disability	HP:0001249
9129	PRPF3	Abnormal testis morphology	HP:0000035
9129	PRPF3	Photophobia	HP:0000613
9129	PRPF3	Obesity	HP:0001513
9129	PRPF3	Blindness	HP:0000618
9129	PRPF3	Retinal arteriolar constriction	HP:0008043
9129	PRPF3	Abnormal retinal vascular morphology	HP:0008046
9129	PRPF3	Wide nasal bridge	HP:0000431
9129	PRPF3	Keratoconus	HP:0000563
9129	PRPF3	Progressive visual field defects	HP:0007987
9129	PRPF3	Glaucoma	HP:0000501
9129	PRPF3	Progressive night blindness	HP:0007675
9129	PRPF3	Rod-cone dystrophy	HP:0000510
9129	PRPF3	Nystagmus	HP:0000639
9129	PRPF3	Scotoma	HP:0000575
9131	AIFM1	Ragged-red muscle fibers	HP:0003200
9131	AIFM1	Skeletal muscle atrophy	HP:0003202
9131	AIFM1	Areflexia	HP:0001284
9131	AIFM1	Central hypotonia	HP:0011398
9131	AIFM1	Gait disturbance	HP:0001288
9131	AIFM1	Infantile onset	HP:0003593
9131	AIFM1	Generalized hypotonia	HP:0001290
9131	AIFM1	X-linked recessive inheritance	HP:0001419
9131	AIFM1	Psychomotor retardation	HP:0025356
9131	AIFM1	Tetraplegia	HP:0002445
9131	AIFM1	Unsteady gait	HP:0002317
9131	AIFM1	Sensorineural hearing impairment	HP:0000407
9131	AIFM1	Tongue fasciculations	HP:0001308
9131	AIFM1	Distal muscle weakness	HP:0002460
9131	AIFM1	Impaired pain sensation	HP:0007328
9131	AIFM1	Elevated serum creatine kinase	HP:0003236
9131	AIFM1	Feeding difficulties in infancy	HP:0008872
9131	AIFM1	Abnormal speech discrimination	HP:0001963
9131	AIFM1	Muscle weakness	HP:0001324
9131	AIFM1	Severe muscular hypotonia	HP:0006829
9131	AIFM1	Respiratory insufficiency	HP:0002093
9131	AIFM1	Respiratory distress	HP:0002098
9131	AIFM1	Sleep disturbance	HP:0002360
9131	AIFM1	Tremor	HP:0001337
9131	AIFM1	Increased CSF lactate	HP:0002490
9131	AIFM1	Respiratory insufficiency due to muscle weakness	HP:0002747
9131	AIFM1	Sensory axonal neuropathy	HP:0003390
9131	AIFM1	Cognitive impairment	HP:0100543
9131	AIFM1	Increased connective tissue	HP:0009025
9131	AIFM1	Hypokinesia	HP:0002375
9131	AIFM1	Developmental regression	HP:0002376
9131	AIFM1	Fasciculations	HP:0002380
9131	AIFM1	Moderate global developmental delay	HP:0011343
9131	AIFM1	Increased serum pyruvate	HP:0003542
9131	AIFM1	Abnormality of the basal ganglia	HP:0002134
9131	AIFM1	Motor axonal neuropathy	HP:0007002
9131	AIFM1	Scoliosis	HP:0002650
9131	AIFM1	Progressive	HP:0003676
9131	AIFM1	Irritability	HP:0000737
9131	AIFM1	Intellectual disability	HP:0001249
9131	AIFM1	Pes cavus	HP:0001761
9131	AIFM1	Seizures	HP:0001250
9131	AIFM1	Ataxia	HP:0001251
9131	AIFM1	Increased variability in muscle fiber diameter	HP:0003557
9131	AIFM1	Sensorimotor neuropathy	HP:0007141
9131	AIFM1	Abnormal middle ear reflexes	HP:0004454
9131	AIFM1	Increased serum lactate	HP:0002151
9131	AIFM1	Tinnitus	HP:0000360
9131	AIFM1	Hearing impairment	HP:0000365
9131	AIFM1	Delayed speech and language development	HP:0000750
9131	AIFM1	Global developmental delay	HP:0001263
9131	AIFM1	Hyporeflexia	HP:0001265
9131	AIFM1	Abnormal corpus striatum morphology	HP:0010994
9131	AIFM1	Polyneuropathy	HP:0001271
9131	AIFM1	Distal sensory impairment	HP:0002936
9131	AIFM1	Kyphosis	HP:0002808
9131	AIFM1	Decreased nerve conduction velocity	HP:0000762
9131	AIFM1	Sensory neuropathy	HP:0000763
9131	AIFM1	Generalized muscle weakness	HP:0003324
939	CD27	Hepatomegaly	HP:0002240
939	CD27	Ascites	HP:0001541
939	CD27	Autosomal recessive inheritance	HP:0000007
939	CD27	Persistent EBV viremia	HP:0020072
939	CD27	Lymphoma	HP:0002665
939	CD27	Splenomegaly	HP:0001744
939	CD27	Lymphoproliferative disorder	HP:0005523
939	CD27	Variable expressivity	HP:0003828
939	CD27	Fever	HP:0001945
939	CD27	Decreased antibody level in blood	HP:0004313
939	CD27	Aplastic anemia	HP:0001915
939	CD27	Hemophagocytosis	HP:0012156
939	CD27	Lymphadenopathy	HP:0002716
940	CD28	Hepatomegaly	HP:0002240
940	CD28	Skeletal muscle atrophy	HP:0003202
940	CD28	Hyperkeratosis	HP:0000962
940	CD28	Eczema	HP:0000964
940	CD28	Neoplasm of the skin	HP:0008069
940	CD28	Poikiloderma	HP:0001029
940	CD28	Edema	HP:0000969
940	CD28	Abnormal immunoglobulin level	HP:0010701
940	CD28	Abnormal facial shape	HP:0001999
940	CD28	Splenomegaly	HP:0001744
940	CD28	Ectropion	HP:0000656
940	CD28	Nail dystrophy	HP:0008404
940	CD28	Palmoplantar keratoderma	HP:0000982
940	CD28	Gangrene	HP:0100758
940	CD28	Lymphadenopathy	HP:0002716
940	CD28	Skin rash	HP:0000988
940	CD28	Pruritus	HP:0000989
940	CD28	Hypopigmented skin patches	HP:0001053
940	CD28	Erythema	HP:0010783
940	CD28	Cutaneous T-cell lymphoma	HP:0012192
940	CD28	Skin plaque	HP:0200035
940	CD28	Immunodeficiency	HP:0002721
940	CD28	Peripheral neuropathy	HP:0009830
940	CD28	Irregular hyperpigmentation	HP:0007400
940	CD28	Skin ulcer	HP:0200042
940	CD28	Abnormal lymphocyte morphology	HP:0004332
940	CD28	Abnormal eyelid morphology	HP:0000492
940	CD28	Lichenification	HP:0100725
940	CD28	Abnormality of the pleura	HP:0002103
940	CD28	Tremor	HP:0001337
940	CD28	Abnormality of bone marrow cell morphology	HP:0005561
940	CD28	Erythroderma	HP:0001019
940	CD28	Alopecia	HP:0001596
940	CD28	Abnormality of the nail	HP:0001597
940	CD28	Dry skin	HP:0000958
9132	KCNQ4	Autosomal dominant inheritance	HP:0000006
9132	KCNQ4	Tinnitus	HP:0000360
9132	KCNQ4	Progressive	HP:0003676
9132	KCNQ4	Hearing impairment	HP:0000365
948	CD36	Thrombocytopenia	HP:0001873
948	CD36	Abnormality of the endocrine system	HP:0000818
948	CD36	Prolonged bleeding time	HP:0003010
948	CD36	Autosomal dominant inheritance	HP:0000006
948	CD36	Autosomal recessive inheritance	HP:0000007
948	CD36	Giant platelets	HP:0001902
950	SCARB2	Interstitial pulmonary abnormality	HP:0006530
950	SCARB2	Ascites	HP:0001541
950	SCARB2	Avascular necrosis	HP:0010885
950	SCARB2	Autosomal recessive inheritance	HP:0000007
950	SCARB2	Vertebral compression fractures	HP:0002953
950	SCARB2	Gait ataxia	HP:0002066
950	SCARB2	Generalized-onset seizure	HP:0002197
950	SCARB2	Hematuria	HP:0000790
950	SCARB2	Limb ataxia	HP:0002070
950	SCARB2	Intention tremor	HP:0002080
950	SCARB2	Pericardial effusion	HP:0001698
950	SCARB2	Osteopenia	HP:0000938
950	SCARB2	Pulmonary arterial hypertension	HP:0002092
950	SCARB2	Hypersplenism	HP:0001971
950	SCARB2	Delayed puberty	HP:0000823
950	SCARB2	Myoclonus	HP:0001336
950	SCARB2	Delayed skeletal maturation	HP:0002750
950	SCARB2	Hepatomegaly	HP:0002240
950	SCARB2	Pathologic fracture	HP:0002756
950	SCARB2	Osteoarthritis	HP:0002758
950	SCARB2	Increased antibody level in blood	HP:0010702
950	SCARB2	Splenomegaly	HP:0001744
950	SCARB2	Thrombocytopenia	HP:0001873
950	SCARB2	Bruising susceptibility	HP:0000978
950	SCARB2	Renal insufficiency	HP:0000083
950	SCARB2	Pancytopenia	HP:0001876
950	SCARB2	Glomerulopathy	HP:0100820
950	SCARB2	Dementia	HP:0000726
950	SCARB2	EEG with polyspike wave complexes	HP:0002392
950	SCARB2	Morning myoclonic jerks	HP:0007000
950	SCARB2	Leukopenia	HP:0001882
950	SCARB2	Proteinuria	HP:0000093
950	SCARB2	Bone pain	HP:0002653
950	SCARB2	Rapidly progressive	HP:0003678
950	SCARB2	Dysphagia	HP:0002015
950	SCARB2	Cutaneous photosensitivity	HP:0000992
950	SCARB2	Focal segmental glomerulosclerosis	HP:0000097
950	SCARB2	Gingival bleeding	HP:0000225
950	SCARB2	Intellectual disability	HP:0001249
950	SCARB2	Nephrotic syndrome	HP:0000100
950	SCARB2	Abnormal myocardium morphology	HP:0001637
950	SCARB2	Abdominal pain	HP:0002027
950	SCARB2	Dysarthria	HP:0001260
950	SCARB2	Osteolysis	HP:0002797
950	SCARB2	Biliary tract obstruction	HP:0005230
950	SCARB2	Anemia	HP:0001903
950	SCARB2	Nephropathy	HP:0000112
950	SCARB2	Cirrhosis	HP:0001394
950	SCARB2	Pedal edema	HP:0010741
950	SCARB2	Anorexia	HP:0002039
950	SCARB2	Cerebellar atrophy	HP:0001272
950	SCARB2	Kyphosis	HP:0002808
950	SCARB2	Increased bone mineral density	HP:0011001
950	SCARB2	Postural tremor	HP:0002174
953	ENTPD1	Intellectual disability	HP:0001249
953	ENTPD1	Talipes equinovarus	HP:0001762
953	ENTPD1	Skeletal muscle atrophy	HP:0003202
953	ENTPD1	Areflexia	HP:0001284
953	ENTPD1	Abnormality of the cerebral white matter	HP:0002500
953	ENTPD1	Intellectual disability, moderate	HP:0002342
953	ENTPD1	Developmental cataract	HP:0000519
953	ENTPD1	Autosomal recessive inheritance	HP:0000007
953	ENTPD1	Gait disturbance	HP:0001288
953	ENTPD1	Intellectual disability, borderline	HP:0006889
953	ENTPD1	Spasticity	HP:0001257
953	ENTPD1	Spastic paraplegia	HP:0001258
953	ENTPD1	Dysarthria	HP:0001260
953	ENTPD1	Aggressive behavior	HP:0000718
953	ENTPD1	Delayed puberty	HP:0000823
953	ENTPD1	Microcephaly	HP:0000252
9149	DYRK1B	Stroke	HP:0001297
9149	DYRK1B	Hypercholesterolemia	HP:0003124
9149	DYRK1B	Truncal obesity	HP:0001956
9149	DYRK1B	Autosomal dominant inheritance	HP:0000006
9149	DYRK1B	Hypertension	HP:0000822
9149	DYRK1B	Abdominal obesity	HP:0012743
9149	DYRK1B	Coronary artery stenosis	HP:0005145
9149	DYRK1B	Myocardial infarction	HP:0001658
958	CD40	Decreased circulating IgA level	HP:0002720
958	CD40	Absence of lymph node germinal center	HP:0002849
958	CD40	Immunodeficiency	HP:0002721
958	CD40	Neutropenia	HP:0001875
958	CD40	Decreased circulating total IgE	HP:0005479
958	CD40	Autosomal recessive inheritance	HP:0000007
958	CD40	Increased circulating IgM level	HP:0003496
958	CD40	Decreased circulating IgG level	HP:0004315
958	CD40	Recurrent bacterial infections	HP:0002718
958	CD40	Impaired memory B cell generation	HP:0002847
958	CD40	Impaired Ig class switch recombination	HP:0002959
9150	CTDP1	Genu recurvatum	HP:0002816
9150	CTDP1	Cataract	HP:0000518
9150	CTDP1	Developmental cataract	HP:0000519
9150	CTDP1	Autosomal recessive inheritance	HP:0000007
9150	CTDP1	Infantile onset	HP:0003593
9150	CTDP1	Motor polyneuropathy	HP:0007178
9150	CTDP1	Cerebral atrophy	HP:0002059
9150	CTDP1	Camptodactyly of finger	HP:0100490
9150	CTDP1	Axonal degeneration	HP:0040078
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	Decreased testicular size	HP:0008734
9150	CTDP1	Dysmetria	HP:0001310
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	Cognitive impairment	HP:0100543
9150	CTDP1	Abnormality of peripheral nerve conduction	HP:0003134
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	Peripheral demyelination	HP:0011096
9150	CTDP1	Abnormal pyramidal sign	HP:0007256
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	Talipes equinovarus	HP:0001762
9150	CTDP1	Microcornea	HP:0000482
9150	CTDP1	Ataxia	HP:0001251
9150	CTDP1	Strabismus	HP:0000486
9150	CTDP1	Decreased motor nerve conduction velocity	HP:0003431
9150	CTDP1	Intrauterine growth retardation	HP:0001511
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	Nystagmus	HP:0000639
959	CD40LG	Hepatomegaly	HP:0002240
959	CD40LG	Decreased circulating IgA level	HP:0002720
959	CD40LG	Absence of lymph node germinal center	HP:0002849
959	CD40LG	Immunodeficiency	HP:0002721
959	CD40LG	Gingivitis	HP:0000230
959	CD40LG	Decreased circulating total IgE	HP:0005479
959	CD40LG	Increased circulating IgM level	HP:0003496
959	CD40LG	Stomatitis	HP:0010280
959	CD40LG	Decreased T cell activation	HP:0005419
959	CD40LG	X-linked recessive inheritance	HP:0001419
959	CD40LG	Impaired Ig class switch recombination	HP:0002959
959	CD40LG	Splenomegaly	HP:0001744
959	CD40LG	Thrombocytopenia	HP:0001873
959	CD40LG	Dysgammaglobulinemia	HP:0002961
959	CD40LG	Neutropenia	HP:0001875
959	CD40LG	Hemolytic anemia	HP:0001878
959	CD40LG	Chronic hepatitis	HP:0200123
959	CD40LG	Decreased circulating IgG level	HP:0004315
959	CD40LG	Enlarged tonsils	HP:0030812
959	CD40LG	Recurrent bacterial infections	HP:0002718
959	CD40LG	Diarrhea	HP:0002014
959	CD40LG	Impaired memory B cell generation	HP:0002847
9152	SLC6A5	Muscle stiffness	HP:0003552
9152	SLC6A5	Umbilical hernia	HP:0001537
9152	SLC6A5	Intellectual disability	HP:0001249
9152	SLC6A5	Seizures	HP:0001250
9152	SLC6A5	Ataxia	HP:0001251
9152	SLC6A5	Hyperreflexia	HP:0001347
9152	SLC6A5	Gastroesophageal reflux	HP:0002020
9152	SLC6A5	Autosomal dominant inheritance	HP:0000006
9152	SLC6A5	Autosomal recessive inheritance	HP:0000007
9152	SLC6A5	Gait disturbance	HP:0001288
9152	SLC6A5	Spasticity	HP:0001257
9152	SLC6A5	Infantile onset	HP:0003593
9152	SLC6A5	Joint stiffness	HP:0001387
9152	SLC6A5	Hip dislocation	HP:0002827
9152	SLC6A5	Fasciculations	HP:0002380
9152	SLC6A5	Rigidity	HP:0002063
9152	SLC6A5	Hiatus hernia	HP:0002036
9152	SLC6A5	Myoclonus	HP:0001336
9152	SLC6A5	Sleep disturbance	HP:0002360
9152	SLC6A5	Esophagitis	HP:0100633
9152	SLC6A5	Apnea	HP:0002104
9152	SLC6A5	Exaggerated startle response	HP:0002267
9152	SLC6A5	Hypertonia	HP:0001276
115650	TNFRSF13C	Hepatomegaly	HP:0002240
115650	TNFRSF13C	Recurrent pneumonia	HP:0006532
115650	TNFRSF13C	Chronic otitis media	HP:0000389
115650	TNFRSF13C	Autosomal dominant inheritance	HP:0000006
115650	TNFRSF13C	Autosomal recessive inheritance	HP:0000007
115650	TNFRSF13C	Meningitis	HP:0001287
115650	TNFRSF13C	Vasculitis	HP:0002633
115650	TNFRSF13C	Arthralgia	HP:0002829
115650	TNFRSF13C	Autoimmunity	HP:0002960
115650	TNFRSF13C	Splenomegaly	HP:0001744
115650	TNFRSF13C	Recurrent otitis media	HP:0000403
115650	TNFRSF13C	Purpura	HP:0000979
115650	TNFRSF13C	Recurrent bronchitis	HP:0002837
115650	TNFRSF13C	Hemolytic anemia	HP:0001878
115650	TNFRSF13C	Decreased antibody level in blood	HP:0004313
115650	TNFRSF13C	Decreased circulating IgG level	HP:0004315
115650	TNFRSF13C	Lymphadenopathy	HP:0002716
115650	TNFRSF13C	Recurrent bacterial infections	HP:0002718
115650	TNFRSF13C	Diarrhea	HP:0002014
115650	TNFRSF13C	Elevated hepatic transaminase	HP:0002910
115650	TNFRSF13C	Decreased circulating IgA level	HP:0002720
115650	TNFRSF13C	Lymphopenia	HP:0001888
115650	TNFRSF13C	Immunodeficiency	HP:0002721
115650	TNFRSF13C	Decreased circulating total IgM	HP:0002850
115650	TNFRSF13C	Recurrent sinusitis	HP:0011108
115650	TNFRSF13C	Anal atresia	HP:0002023
115650	TNFRSF13C	Neoplasm	HP:0002664
115650	TNFRSF13C	Lymphoma	HP:0002665
115650	TNFRSF13C	Follicular hyperplasia	HP:0002729
115650	TNFRSF13C	Pneumonia	HP:0002090
115650	TNFRSF13C	Restrictive ventilatory defect	HP:0002091
115650	TNFRSF13C	Emphysema	HP:0002097
115650	TNFRSF13C	Gastrointestinal stroma tumor	HP:0100723
115650	TNFRSF13C	Autoimmune thrombocytopenia	HP:0001973
115650	TNFRSF13C	Brachycephaly	HP:0000248
115650	TNFRSF13C	Impaired T cell function	HP:0005435
115650	TNFRSF13C	Failure to thrive in infancy	HP:0001531
115650	TNFRSF13C	Adult onset	HP:0003581
115650	TNFRSF13C	Conjunctivitis	HP:0000509
115650	TNFRSF13C	Bronchiectasis	HP:0002110
115650	TNFRSF13C	Posterior pharyngeal cleft	HP:0006783
9158	FIBP	Macrocephaly	HP:0000256
9158	FIBP	Autosomal recessive inheritance	HP:0000007
9158	FIBP	Overgrowth	HP:0001548
9158	FIBP	Coloboma	HP:0000589
9158	FIBP	Macrotia	HP:0000400
9158	FIBP	Bifid ureter	HP:0030037
9158	FIBP	Sensorineural hearing impairment	HP:0000407
9158	FIBP	Midface retrusion	HP:0011800
9158	FIBP	Large hands	HP:0001176
9158	FIBP	Ventricular septal defect	HP:0001629
9158	FIBP	Epicanthus	HP:0000286
9158	FIBP	Macroglossia	HP:0000158
9158	FIBP	Mitral valve prolapse	HP:0001634
9158	FIBP	Bowing of the legs	HP:0002979
9158	FIBP	Pes planus	HP:0001763
9158	FIBP	Strabismus	HP:0000486
9158	FIBP	Renal malrotation	HP:0004712
9158	FIBP	Intellectual disability, mild	HP:0001256
9158	FIBP	Long foot	HP:0001833
9158	FIBP	Deeply set eye	HP:0000490
9158	FIBP	Renal cyst	HP:0000107
9158	FIBP	Nephroblastoma	HP:0002667
9158	FIBP	Downslanted palpebral fissures	HP:0000494
9158	FIBP	Renal dysplasia	HP:0000110
9158	FIBP	Global developmental delay	HP:0001263
9158	FIBP	Large for gestational age	HP:0001520
9158	FIBP	Long hallux	HP:0001847
9158	FIBP	Thick vermilion border	HP:0012471
9158	FIBP	Round face	HP:0000311
9158	FIBP	Varicose veins	HP:0002619
9158	FIBP	Hypertelorism	HP:0000316
966	CD59	Skeletal muscle atrophy	HP:0003202
966	CD59	Paroxysmal nocturnal hemoglobinuria	HP:0004818
966	CD59	Areflexia	HP:0001284
966	CD59	Hemolytic anemia	HP:0001878
966	CD59	Autosomal recessive inheritance	HP:0000007
966	CD59	Polyneuropathy	HP:0001271
966	CD59	Infantile onset	HP:0003593
966	CD59	Increased CSF protein	HP:0002922
966	CD59	Generalized hypotonia	HP:0001290
966	CD59	Limb muscle weakness	HP:0003690
966	CD59	Paralysis	HP:0003470
970	CD70	Lymphoproliferative disorder	HP:0005523
970	CD70	Variable expressivity	HP:0003828
970	CD70	Decreased antibody level in blood	HP:0004313
970	CD70	Lymphadenopathy	HP:0002716
970	CD70	Recurrent infections	HP:0002719
402381	SOHLH1	Primary amenorrhea	HP:0000786
402381	SOHLH1	Infertility	HP:0000789
402381	SOHLH1	Increased circulating gonadotropin level	HP:0000837
402381	SOHLH1	Non-obstructive azoospermia	HP:0011961
402381	SOHLH1	Obstructive azoospermia	HP:0011962
402381	SOHLH1	Azoospermia	HP:0000027
402381	SOHLH1	Hypoplasia of the uterus	HP:0000013
402381	SOHLH1	Decreased testicular size	HP:0008734
973	CD79A	Osteomyelitis	HP:0002754
973	CD79A	Chronic otitis media	HP:0000389
973	CD79A	Meningitis	HP:0001287
973	CD79A	Sepsis	HP:0100806
973	CD79A	Autosomal recessive inheritance	HP:0000007
973	CD79A	Agammaglobulinemia	HP:0004432
973	CD79A	Neutropenia	HP:0001875
973	CD79A	Hepatitis	HP:0012115
973	CD79A	Recurrent otitis media	HP:0000403
973	CD79A	Recurrent bronchitis	HP:0002837
973	CD79A	Dehydration	HP:0001944
973	CD79A	Arthritis	HP:0001369
973	CD79A	Fever	HP:0001945
973	CD79A	High palate	HP:0000218
973	CD79A	Fatigue	HP:0012378
973	CD79A	Skin rash	HP:0000988
973	CD79A	Recurrent respiratory infections	HP:0002205
973	CD79A	Diarrhea	HP:0002014
973	CD79A	Epicanthus	HP:0000286
973	CD79A	Recurrent bacterial infections	HP:0002718
973	CD79A	Immunodeficiency	HP:0002721
973	CD79A	Failure to thrive	HP:0001508
973	CD79A	Malabsorption	HP:0002024
973	CD79A	Verrucae	HP:0200043
973	CD79A	Recurrent skin infections	HP:0001581
973	CD79A	Cellulitis	HP:0100658
973	CD79A	Sinusitis	HP:0000246
973	CD79A	Hypertelorism	HP:0000316
973	CD79A	External ear malformation	HP:0008572
973	CD79A	Conjunctivitis	HP:0000509
973	CD79A	Bronchiectasis	HP:0002110
973	CD79A	Cough	HP:0012735
974	CD79B	Osteomyelitis	HP:0002754
974	CD79B	Recurrent pneumonia	HP:0006532
974	CD79B	Chronic otitis media	HP:0000389
974	CD79B	Meningitis	HP:0001287
974	CD79B	Sepsis	HP:0100806
974	CD79B	Autosomal recessive inheritance	HP:0000007
974	CD79B	Infantile onset	HP:0003593
974	CD79B	Agammaglobulinemia	HP:0004432
974	CD79B	Neutropenia	HP:0001875
974	CD79B	Hepatitis	HP:0012115
974	CD79B	Recurrent otitis media	HP:0000403
974	CD79B	Recurrent bronchitis	HP:0002837
974	CD79B	Dehydration	HP:0001944
974	CD79B	Arthritis	HP:0001369
974	CD79B	Fever	HP:0001945
974	CD79B	High palate	HP:0000218
974	CD79B	Fatigue	HP:0012378
974	CD79B	Skin rash	HP:0000988
974	CD79B	Recurrent respiratory infections	HP:0002205
974	CD79B	Diarrhea	HP:0002014
974	CD79B	Epicanthus	HP:0000286
974	CD79B	Recurrent bacterial infections	HP:0002718
974	CD79B	Immunodeficiency	HP:0002721
974	CD79B	Failure to thrive	HP:0001508
974	CD79B	Chronic sinusitis	HP:0011109
974	CD79B	Malabsorption	HP:0002024
974	CD79B	Verrucae	HP:0200043
974	CD79B	Recurrent skin infections	HP:0001581
974	CD79B	Cellulitis	HP:0100658
974	CD79B	Sinusitis	HP:0000246
974	CD79B	Hypertelorism	HP:0000316
974	CD79B	External ear malformation	HP:0008572
974	CD79B	Conjunctivitis	HP:0000509
974	CD79B	Bronchiectasis	HP:0002110
974	CD79B	Cough	HP:0012735
975	CD81	Chronic otitis media	HP:0000389
975	CD81	Autosomal recessive inheritance	HP:0000007
975	CD81	Vasculitis	HP:0002633
975	CD81	Arthralgia	HP:0002829
975	CD81	Splenomegaly	HP:0001744
975	CD81	Purpura	HP:0000979
975	CD81	Recurrent bronchitis	HP:0002837
975	CD81	Hemolytic anemia	HP:0001878
975	CD81	Decreased antibody level in blood	HP:0004313
975	CD81	Lymphadenopathy	HP:0002716
975	CD81	Recurrent respiratory infections	HP:0002205
975	CD81	Recurrent bacterial infections	HP:0002718
975	CD81	Elevated hepatic transaminase	HP:0002910
975	CD81	Lymphopenia	HP:0001888
975	CD81	Immunodeficiency	HP:0002721
975	CD81	Anal atresia	HP:0002023
975	CD81	Lymphoma	HP:0002665
975	CD81	Pneumonia	HP:0002090
975	CD81	Restrictive ventilatory defect	HP:0002091
975	CD81	Emphysema	HP:0002097
975	CD81	Gastrointestinal stroma tumor	HP:0100723
975	CD81	Autoimmune thrombocytopenia	HP:0001973
975	CD81	Brachycephaly	HP:0000248
975	CD81	Failure to thrive in infancy	HP:0001531
975	CD81	Bronchiectasis	HP:0002110
975	CD81	Posterior pharyngeal cleft	HP:0006783
977	CD151	Nephropathy	HP:0000112
977	CD151	Reduced beta/alpha synthesis ratio	HP:0011906
977	CD151	Nail dystrophy	HP:0008404
977	CD151	Sensorineural hearing impairment	HP:0000407
977	CD151	Autosomal recessive inheritance	HP:0000007
977	CD151	Nephritis	HP:0000123
977	CD151	Pretibial blistering	HP:0012221
977	CD151	Stage 5 chronic kidney disease	HP:0003774
977	CD151	Lacrimal duct stenosis	HP:0007678
353238	PADI6	Autosomal recessive inheritance	HP:0000007
9179	AP4M1	Genu recurvatum	HP:0002816
9179	AP4M1	Drooling	HP:0002307
9179	AP4M1	Amblyopia	HP:0000646
9179	AP4M1	Autosomal recessive inheritance	HP:0000007
9179	AP4M1	Wide nasal ridge	HP:0012811
9179	AP4M1	Coarse facial features	HP:0000280
9179	AP4M1	Pseudobulbar signs	HP:0002200
9179	AP4M1	Wide mouth	HP:0000154
9179	AP4M1	Adducted thumb	HP:0001181
9179	AP4M1	Bulbous nose	HP:0000414
9179	AP4M1	Overweight	HP:0025502
9179	AP4M1	Hypoplasia of the corpus callosum	HP:0002079
9179	AP4M1	Babinski sign	HP:0003487
9179	AP4M1	Spastic dysarthria	HP:0002464
9179	AP4M1	Poor speech	HP:0002465
9179	AP4M1	Neonatal hypotonia	HP:0001319
9179	AP4M1	Facial hypotonia	HP:0000297
9179	AP4M1	Mandibular prognathia	HP:0000303
9179	AP4M1	Difficulty walking	HP:0002355
9179	AP4M1	Everted upper lip vermilion	HP:0010803
9179	AP4M1	Cerebral palsy	HP:0100021
9179	AP4M1	Dystonia	HP:0001332
9179	AP4M1	Short philtrum	HP:0000322
9179	AP4M1	Hyperreflexia	HP:0001347
9179	AP4M1	Ventriculomegaly	HP:0002119
9179	AP4M1	Cerebral cortical atrophy	HP:0002120
9179	AP4M1	Generalized joint laxity	HP:0002761
9179	AP4M1	Spastic tetraplegia	HP:0002510
9179	AP4M1	Waddling gait	HP:0002515
9179	AP4M1	Narrow forehead	HP:0000341
9179	AP4M1	Abnormality of the periventricular white matter	HP:0002518
9179	AP4M1	High palate	HP:0000218
9179	AP4M1	Stereotypy	HP:0000733
9179	AP4M1	Talipes equinovarus	HP:0001762
9179	AP4M1	Seizures	HP:0001250
9179	AP4M1	Short stature	HP:0004322
9179	AP4M1	Pes planus	HP:0001763
9179	AP4M1	Shyness	HP:0100962
9179	AP4M1	Strabismus	HP:0000486
9179	AP4M1	Intellectual disability, progressive	HP:0006887
9179	AP4M1	Acetabular dysplasia	HP:0008807
9179	AP4M1	Spastic paraplegia	HP:0001258
9179	AP4M1	Progressive spastic paraplegia	HP:0007020
9179	AP4M1	Global developmental delay	HP:0001263
9179	AP4M1	Intellectual disability, severe	HP:0010864
9179	AP4M1	Cerebellar atrophy	HP:0001272
9179	AP4M1	Congenital onset	HP:0003577
9179	AP4M1	Gliosis	HP:0002171
9179	AP4M1	Microcephaly	HP:0000252
987	LRBA	Chronic lung disease	HP:0006528
987	LRBA	Autosomal recessive inheritance	HP:0000007
987	LRBA	Gastritis	HP:0005263
987	LRBA	Thrombocytopenia	HP:0001873
987	LRBA	Recurrent otitis media	HP:0000403
987	LRBA	Neutropenia	HP:0001875
987	LRBA	Pancytopenia	HP:0001876
987	LRBA	Clubbing of fingers	HP:0100759
987	LRBA	Colitis	HP:0002583
987	LRBA	Arthritis	HP:0001369
987	LRBA	Progressive	HP:0003676
987	LRBA	Lymphadenopathy	HP:0002716
987	LRBA	Decreased circulating IgA level	HP:0002720
987	LRBA	Immunodeficiency	HP:0002721
987	LRBA	Decreased circulating total IgM	HP:0002850
987	LRBA	Autoimmune hemolytic anemia	HP:0001890
987	LRBA	Failure to thrive	HP:0001508
987	LRBA	Recurrent sinusitis	HP:0011108
987	LRBA	Growth delay	HP:0001510
987	LRBA	Pneumonia	HP:0002090
987	LRBA	Chronic diarrhea	HP:0002028
987	LRBA	Asthma	HP:0002099
987	LRBA	Hypothyroidism	HP:0000821
987	LRBA	Conjunctivitis	HP:0000509
987	LRBA	Bronchiectasis	HP:0002110
9180	OSMR	Lichenification	HP:0100725
9180	OSMR	Autosomal dominant inheritance	HP:0000006
9180	OSMR	Amyloidosis	HP:0011034
9180	OSMR	Abnormal cranial nerve morphology	HP:0001291
9180	OSMR	Lattice corneal dystrophy	HP:0001149
9180	OSMR	Pruritus	HP:0000989
9180	OSMR	Adult onset	HP:0003581
9180	OSMR	Cutis laxa	HP:0000973
9180	OSMR	Scaling skin	HP:0040189
9180	OSMR	Dry skin	HP:0000958
9181	ARHGEF2	Intellectual disability	HP:0001249
9181	ARHGEF2	Astigmatism	HP:0000483
9181	ARHGEF2	Amblyopia	HP:0000646
9181	ARHGEF2	Strabismus	HP:0000486
9181	ARHGEF2	Abnormality of visual evoked potentials	HP:0000649
9181	ARHGEF2	Downslanted palpebral fissures	HP:0000494
9181	ARHGEF2	Hypoplasia of the pons	HP:0012110
9181	ARHGEF2	Long eyelashes	HP:0000527
9181	ARHGEF2	Motor delay	HP:0001270
9181	ARHGEF2	Frequent falls	HP:0002359
9181	ARHGEF2	High palate	HP:0000218
9181	ARHGEF2	Thin upper lip vermilion	HP:0000219
9181	ARHGEF2	Ptosis	HP:0000508
9181	ARHGEF2	Nystagmus	HP:0000639
9181	ARHGEF2	Optic disc pallor	HP:0000543
990	CDC6	Small earlobe	HP:0000385
990	CDC6	Microtia, third degree	HP:0011267
990	CDC6	Clinodactyly	HP:0030084
990	CDC6	Aplastic clavicle	HP:0006660
990	CDC6	Abnormality of the ribs	HP:0000772
990	CDC6	Autosomal recessive inheritance	HP:0000007
990	CDC6	Camptodactyly of finger	HP:0100490
990	CDC6	High, narrow palate	HP:0002705
990	CDC6	Hypoplasia of the capital femoral epiphysis	HP:0003090
990	CDC6	Retrognathia	HP:0000278
990	CDC6	Slender long bone	HP:0003100
990	CDC6	Cryptorchidism	HP:0000028
990	CDC6	Atresia of the external auditory canal	HP:0000413
990	CDC6	Hypoplasia of penis	HP:0008736
990	CDC6	Narrow mouth	HP:0000160
990	CDC6	Anotia	HP:0009892
990	CDC6	Epispadias	HP:0000039
990	CDC6	Abnormality of epiphysis morphology	HP:0005930
990	CDC6	Patellar aplasia	HP:0006443
990	CDC6	Breast aplasia	HP:0100783
990	CDC6	Hypospadias	HP:0000047
990	CDC6	Specific learning disability	HP:0001328
990	CDC6	Submucous cleft hard palate	HP:0000176
990	CDC6	Respiratory distress	HP:0002098
990	CDC6	Micropenis	HP:0000054
990	CDC6	Severe short stature	HP:0003510
990	CDC6	Thick vermilion border	HP:0012471
990	CDC6	Hypoplastic labia majora	HP:0000059
990	CDC6	Clitoral hypoplasia	HP:0000060
990	CDC6	Joint hyperflexibility	HP:0005692
990	CDC6	Delayed skeletal maturation	HP:0002750
990	CDC6	Respiratory failure	HP:0002878
990	CDC6	Feeding difficulties	HP:0011968
990	CDC6	Hypoplastic labia minora	HP:0000064
990	CDC6	Bifid uvula	HP:0000193
990	CDC6	Triangular face	HP:0000325
990	CDC6	Hypoplasia of the maxilla	HP:0000327
990	CDC6	Mild global developmental delay	HP:0011342
990	CDC6	Mandibular aplasia	HP:0009939
990	CDC6	Craniosynostosis	HP:0001363
990	CDC6	Long philtrum	HP:0000343
990	CDC6	Irregular femoral epiphysis	HP:0006361
990	CDC6	Clitoral hypertrophy	HP:0008665
990	CDC6	Micrognathia	HP:0000347
990	CDC6	Intellectual disability	HP:0001249
990	CDC6	Elbow dislocation	HP:0003042
990	CDC6	Gastroesophageal reflux	HP:0002020
990	CDC6	Failure to thrive	HP:0001508
990	CDC6	Posteriorly rotated ears	HP:0000358
990	CDC6	Intrauterine growth retardation	HP:0001511
990	CDC6	Microtia	HP:0008551
990	CDC6	Birth length less than 3rd percentile	HP:0003561
990	CDC6	Hearing impairment	HP:0000365
990	CDC6	Prominent metopic ridge	HP:0005487
990	CDC6	Global developmental delay	HP:0001263
990	CDC6	Low-set ears	HP:0000369
990	CDC6	Clinodactyly of the 5th finger	HP:0004209
990	CDC6	Motor delay	HP:0001270
990	CDC6	Microcephaly	HP:0000252
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	Dandy-Walker malformation	HP:0001305
9184	BUB3	Polyhydramnios	HP:0001561
9184	BUB3	Epicanthus	HP:0000286
9184	BUB3	Rhabdomyosarcoma	HP:0002859
9184	BUB3	Vaginal neoplasm	HP:0100650
9184	BUB3	Myelodysplasia	HP:0002863
9184	BUB3	Cleft palate	HP:0000175
9184	BUB3	Abnormal lung lobation	HP:0002101
9184	BUB3	Hypothyroidism	HP:0000821
9184	BUB3	Microphthalmia	HP:0000568
9184	BUB3	Apnea	HP:0002104
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	Seizures	HP:0001250
9184	BUB3	Short stature	HP:0004322
9184	BUB3	Abnormality of immune system physiology	HP:0010978
9184	BUB3	Muscular hypotonia	HP:0001252
9184	BUB3	Intrauterine growth retardation	HP:0001511
9184	BUB3	Muscular dystrophy	HP:0003560
9184	BUB3	Abnormality of skin pigmentation	HP:0001000
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
123872	DNAAF1	Situs inversus totalis	HP:0001696
123872	DNAAF1	Absent outer dynein arms	HP:0012256
123872	DNAAF1	Absent inner dynein arms	HP:0012257
123872	DNAAF1	Recurrent otitis media	HP:0000403
123872	DNAAF1	Recurrent bronchitis	HP:0002837
123872	DNAAF1	Infertility	HP:0000789
123872	DNAAF1	Sinusitis	HP:0000246
123872	DNAAF1	Autosomal recessive inheritance	HP:0000007
123872	DNAAF1	Ciliary dyskinesia	HP:0012265
123872	DNAAF1	Recurrent respiratory infections	HP:0002205
123872	DNAAF1	Bronchiectasis	HP:0002110
9187	SLC24A1	Abnormality of macular pigmentation	HP:0008002
9187	SLC24A1	Optic disc hypoplasia	HP:0007766
9187	SLC24A1	Nyctalopia	HP:0000662
9187	SLC24A1	Strabismus	HP:0000486
9187	SLC24A1	Autosomal recessive inheritance	HP:0000007
9187	SLC24A1	Blindness	HP:0000618
9187	SLC24A1	Congenital stationary night blindness	HP:0007642
9187	SLC24A1	High myopia	HP:0011003
9187	SLC24A1	Nystagmus	HP:0000639
9187	SLC24A1	Reduced visual acuity	HP:0007663
998	CDC42	Clinodactyly	HP:0030084
998	CDC42	Abnormal cardiac septum morphology	HP:0001671
998	CDC42	Optic atrophy	HP:0000648
998	CDC42	Generalized hypotonia	HP:0001290
998	CDC42	Sparse eyebrow	HP:0045075
998	CDC42	Inguinal hernia	HP:0000023
998	CDC42	Proximal placement of thumb	HP:0009623
998	CDC42	Sensorineural hearing impairment	HP:0000407
998	CDC42	Synophrys	HP:0000664
998	CDC42	Midface retrusion	HP:0011800
998	CDC42	Downturned corners of mouth	HP:0002714
998	CDC42	Wide mouth	HP:0000154
998	CDC42	Cryptorchidism	HP:0000028
998	CDC42	Bulbous nose	HP:0000414
998	CDC42	Tapered finger	HP:0001182
998	CDC42	Recurrent infections	HP:0002719
998	CDC42	Hypoplasia of the corpus callosum	HP:0002079
998	CDC42	Immunodeficiency	HP:0002721
998	CDC42	Cerebellar hypoplasia	HP:0001321
998	CDC42	Wide nasal bridge	HP:0000431
998	CDC42	Widely spaced teeth	HP:0000687
998	CDC42	Hypospadias	HP:0000047
998	CDC42	Dental malocclusion	HP:0000689
998	CDC42	Nevus	HP:0003764
998	CDC42	Hypertelorism	HP:0000316
998	CDC42	Smooth philtrum	HP:0000319
998	CDC42	Absent speech	HP:0001344
998	CDC42	Exotropia	HP:0000577
998	CDC42	Short philtrum	HP:0000322
998	CDC42	Behavioral abnormality	HP:0000708
998	CDC42	Upslanted palpebral fissure	HP:0000582
998	CDC42	Flared nostrils	HP:0000454
998	CDC42	Ventriculomegaly	HP:0002119
998	CDC42	Cerebral cortical atrophy	HP:0002120
998	CDC42	Abnormal facial shape	HP:0001999
998	CDC42	Thrombocytopenia	HP:0001873
998	CDC42	Prominent forehead	HP:0011220
998	CDC42	Narrow forehead	HP:0000341
998	CDC42	Abnormality of the periventricular white matter	HP:0002518
998	CDC42	Long philtrum	HP:0000343
998	CDC42	Thin upper lip vermilion	HP:0000219
998	CDC42	Intellectual disability	HP:0001249
998	CDC42	Camptodactyly	HP:0012385
998	CDC42	Seizures	HP:0001250
998	CDC42	Ataxia	HP:0001251
998	CDC42	Increased mean platelet volume	HP:0011877
998	CDC42	Posteriorly rotated ears	HP:0000358
998	CDC42	Eversion of lateral third of lower eyelids	HP:0007655
998	CDC42	Patent ductus arteriosus	HP:0001643
998	CDC42	Lymphedema	HP:0001004
998	CDC42	Downslanted palpebral fissures	HP:0000494
998	CDC42	Global developmental delay	HP:0001263
998	CDC42	Low-set ears	HP:0000369
998	CDC42	Cerebellar atrophy	HP:0001272
998	CDC42	Highly arched eyebrow	HP:0002553
998	CDC42	Unilateral renal agenesis	HP:0000122
998	CDC42	Ptosis	HP:0000508
998	CDC42	Progressive microcephaly	HP:0000253
998	CDC42	Hydronephrosis	HP:0000126
999	CDH1	Small nail	HP:0001792
999	CDH1	Clinodactyly	HP:0030084
999	CDH1	Autosomal dominant inheritance	HP:0000006
999	CDH1	Sparse hair	HP:0008070
999	CDH1	Cleft upper lip	HP:0000204
999	CDH1	Dysgerminoma	HP:0100621
999	CDH1	Distichiasis	HP:0009743
999	CDH1	Flat face	HP:0012368
999	CDH1	Endometrial carcinoma	HP:0012114
999	CDH1	Abnormality of metabolism/homeostasis	HP:0001939
999	CDH1	Somatic mutation	HP:0001428
999	CDH1	Conductive hearing impairment	HP:0000405
999	CDH1	Finger syndactyly	HP:0006101
999	CDH1	Chronic atrophic gastritis	HP:0002582
999	CDH1	High forehead	HP:0000348
999	CDH1	Hypodontia	HP:0000668
999	CDH1	Stomach cancer	HP:0012126
999	CDH1	Carious teeth	HP:0000670
999	CDH1	Abnormal hair quantity	HP:0011362
999	CDH1	High anterior hairline	HP:0009890
999	CDH1	Ectropion of lower eyelids	HP:0007651
999	CDH1	Anal atresia	HP:0002023
999	CDH1	Euryblepharon	HP:0012905
999	CDH1	Epidermoid cyst	HP:0200040
999	CDH1	Cleft palate	HP:0000175
999	CDH1	Cutaneous syndactyly	HP:0012725
999	CDH1	Ovarian papillary adenocarcinoma	HP:0006774
999	CDH1	Abnormality of vision	HP:0000504
999	CDH1	Bilateral cleft lip and palate	HP:0002744
999	CDH1	Conical tooth	HP:0000698
999	CDH1	Breast carcinoma	HP:0003002
999	CDH1	Hypertelorism	HP:0000316
1001	CDH3	Joint contracture of the hand	HP:0009473
1001	CDH3	Pili torti	HP:0003777
1001	CDH3	Abnormality of macular pigmentation	HP:0008002
1001	CDH3	Hyperkeratosis	HP:0000962
1001	CDH3	Syndactyly	HP:0001159
1001	CDH3	Autosomal recessive inheritance	HP:0000007
1001	CDH3	Ectodermal dysplasia	HP:0000968
1001	CDH3	Freckling	HP:0001480
1001	CDH3	Macular dystrophy	HP:0007754
1001	CDH3	Sparse eyelashes	HP:0000653
1001	CDH3	Split hand	HP:0001171
1001	CDH3	Finger syndactyly	HP:0006101
1001	CDH3	Abnormality of retinal pigmentation	HP:0007703
1001	CDH3	Sparse and thin eyebrow	HP:0000535
1001	CDH3	Skeletal dysplasia	HP:0002652
1001	CDH3	Carious teeth	HP:0000670
1001	CDH3	Ectrodactyly	HP:0100257
1001	CDH3	Macular degeneration	HP:0000608
1001	CDH3	Sparse scalp hair	HP:0002209
1001	CDH3	Camptodactyly	HP:0012385
1001	CDH3	Short stature	HP:0004322
1001	CDH3	Melanocytic nevus	HP:0000995
1001	CDH3	Abnormality of the dentition	HP:0000164
1001	CDH3	Fine hair	HP:0002213
1001	CDH3	Strabismus	HP:0000486
1001	CDH3	Immunologic hypersensitivity	HP:0100326
1001	CDH3	Retinopathy	HP:0000488
1001	CDH3	Blindness	HP:0000618
1001	CDH3	Hypotrichosis	HP:0001006
1001	CDH3	Widely spaced teeth	HP:0000687
1001	CDH3	Absent eyebrow	HP:0002223
1001	CDH3	Microdontia	HP:0000691
1001	CDH3	Sparse body hair	HP:0002231
1001	CDH3	Selective tooth agenesis	HP:0001592
1001	CDH3	Abnormality of vision	HP:0000504
1001	CDH3	Brittle hair	HP:0002299
1001	CDH3	Abnormality of the nail	HP:0001597
1001	CDH3	Abnormality of limb bone morphology	HP:0002813
1001	CDH3	Nystagmus	HP:0000639
9197	SLC33A1	Absent speech	HP:0001344
9197	SLC33A1	Skeletal muscle atrophy	HP:0003202
9197	SLC33A1	Autosomal dominant inheritance	HP:0000006
9197	SLC33A1	Cataract	HP:0000518
9197	SLC33A1	Developmental cataract	HP:0000519
9197	SLC33A1	Autosomal recessive inheritance	HP:0000007
9197	SLC33A1	Infantile onset	HP:0003593
9197	SLC33A1	Generalized hypotonia	HP:0001290
9197	SLC33A1	Degeneration of the lateral corticospinal tracts	HP:0002314
9197	SLC33A1	Cerebral atrophy	HP:0002059
9197	SLC33A1	Progressive pes cavus	HP:0008075
9197	SLC33A1	Psychomotor retardation	HP:0025356
9197	SLC33A1	Spastic gait	HP:0002064
9197	SLC33A1	Spinal cord lesion	HP:0100561
9197	SLC33A1	Decreased serum ceruloplasmin	HP:0010837
9197	SLC33A1	Lower limb hyperreflexia	HP:0002395
9197	SLC33A1	Progressive	HP:0003676
9197	SLC33A1	Babinski sign	HP:0003487
9197	SLC33A1	Pes cavus	HP:0001761
9197	SLC33A1	Seizures	HP:0001250
9197	SLC33A1	CNS hypomyelination	HP:0003429
9197	SLC33A1	Spastic paraplegia	HP:0001258
9197	SLC33A1	Lower limb amyotrophy	HP:0007210
9197	SLC33A1	Muscle weakness	HP:0001324
9197	SLC33A1	Lower limb muscle weakness	HP:0007340
9197	SLC33A1	Progressive spastic paraplegia	HP:0007020
9197	SLC33A1	Hearing impairment	HP:0000365
9197	SLC33A1	Global developmental delay	HP:0001263
9197	SLC33A1	Lower limb hypertonia	HP:0006895
9197	SLC33A1	Impaired vibration sensation in the lower limbs	HP:0002166
9197	SLC33A1	Cerebellar atrophy	HP:0001272
9197	SLC33A1	Clonus	HP:0002169
9197	SLC33A1	Nystagmus	HP:0000639
9200	HACD1	Ankle contracture	HP:0006466
9200	HACD1	EMG: myopathic abnormalities	HP:0003458
9200	HACD1	Hip contracture	HP:0003273
9200	HACD1	Weak cry	HP:0001612
9200	HACD1	Waddling gait	HP:0002515
9200	HACD1	Long face	HP:0000276
9200	HACD1	Calf muscle hypertrophy	HP:0008981
9200	HACD1	Decreased fetal movement	HP:0001558
9200	HACD1	Polyhydramnios	HP:0001561
9200	HACD1	Ophthalmoplegia	HP:0000602
9200	HACD1	High palate	HP:0000218
9200	HACD1	Micrognathia	HP:0000347
9200	HACD1	Cryptorchidism	HP:0000028
9200	HACD1	Recurrent respiratory infections	HP:0002205
9200	HACD1	Congenital hip dislocation	HP:0001374
9200	HACD1	Type 1 muscle fiber atrophy	HP:0011807
9200	HACD1	Intellectual disability	HP:0001249
9200	HACD1	Short stature	HP:0004322
9200	HACD1	Talipes equinovarus	HP:0001762
9200	HACD1	Reduced tendon reflexes	HP:0001315
9200	HACD1	Failure to thrive	HP:0001508
9200	HACD1	Muscular hypotonia	HP:0001252
9200	HACD1	Reduced vital capacity	HP:0002792
9200	HACD1	Pulmonary hypoplasia	HP:0002089
9200	HACD1	Elbow flexion contracture	HP:0002987
9200	HACD1	Scapular winging	HP:0003691
9200	HACD1	Hyperlordosis	HP:0003307
9200	HACD1	Knee flexion contracture	HP:0006380
9200	HACD1	Joint laxity	HP:0001388
9200	HACD1	Dilated cardiomyopathy	HP:0001644
9200	HACD1	Fatigable weakness of bulbar muscles	HP:0030192
9200	HACD1	Poor suck	HP:0002033
9200	HACD1	Flexion contracture of finger	HP:0012785
9200	HACD1	Mildly elevated creatine kinase	HP:0008180
9200	HACD1	Tented upper lip vermilion	HP:0010804
9200	HACD1	Motor delay	HP:0001270
9200	HACD1	Respiratory insufficiency due to muscle weakness	HP:0002747
9200	HACD1	Ptosis	HP:0000508
9200	HACD1	Generalized muscle weakness	HP:0003324
9200	HACD1	Pectus excavatum	HP:0000767
9200	HACD1	Kyphoscoliosis	HP:0002751
1009	CDH11	Umbilical hernia	HP:0001537
1009	CDH11	Absent nipple	HP:0002561
1009	CDH11	Brachydactyly	HP:0001156
1009	CDH11	Cataract	HP:0000518
1009	CDH11	Autosomal recessive inheritance	HP:0000007
1009	CDH11	Proptosis	HP:0000520
1009	CDH11	Anteriorly placed anus	HP:0001545
1009	CDH11	Malar flattening	HP:0000272
1009	CDH11	Large earlobe	HP:0009748
1009	CDH11	Bladder exstrophy	HP:0002836
1009	CDH11	Synophrys	HP:0000664
1009	CDH11	Midface retrusion	HP:0011800
1009	CDH11	Downturned corners of mouth	HP:0002714
1009	CDH11	Mixed hearing impairment	HP:0000410
1009	CDH11	Phthisis bulbi	HP:0000667
1009	CDH11	Abnormality of the vertebral column	HP:0000925
1009	CDH11	Carious teeth	HP:0000670
1009	CDH11	Depressed nasal bridge	HP:0005280
1009	CDH11	Broad philtrum	HP:0000289
1009	CDH11	Multiple impacted teeth	HP:0001571
1009	CDH11	Low hanging columella	HP:0009765
1009	CDH11	Intellectual disability, moderate	HP:0002342
1009	CDH11	Penoscrotal hypospadias	HP:0000808
1009	CDH11	Absent external genitalia	HP:0000042
1009	CDH11	Delayed eruption of teeth	HP:0000684
1009	CDH11	Mandibular prognathia	HP:0000303
1009	CDH11	Wide nasal bridge	HP:0000431
1009	CDH11	Bifid scrotum	HP:0000048
1009	CDH11	Submucous cleft hard palate	HP:0000176
1009	CDH11	Dental malocclusion	HP:0000689
1009	CDH11	Thick lower lip vermilion	HP:0000179
1009	CDH11	Attached earlobe	HP:0009907
1009	CDH11	Pointed chin	HP:0000307
1009	CDH11	Micropenis	HP:0000054
1009	CDH11	Abnormality of dentin	HP:0010299
1009	CDH11	Hypertelorism	HP:0000316
1009	CDH11	Thick eyebrow	HP:0000574
1009	CDH11	Rootless teeth	HP:0011072
1009	CDH11	Bifid uvula	HP:0000193
1009	CDH11	Short philtrum	HP:0000322
1009	CDH11	Facial asymmetry	HP:0000324
1009	CDH11	Abnormality of the vertebral spinous processes	HP:0008516
1009	CDH11	Hypoplasia of the maxilla	HP:0000327
1009	CDH11	Ureteral stenosis	HP:0000071
1009	CDH11	Broad nasal tip	HP:0000455
1009	CDH11	Abnormality of the shape of the midface	HP:0430026
1009	CDH11	Anteverted nares	HP:0000463
1009	CDH11	Flat face	HP:0012368
1009	CDH11	Premature loss of teeth	HP:0006480
1009	CDH11	Broad forehead	HP:0000337
1009	CDH11	Exodeviation	HP:0020049
1009	CDH11	Wide intermamillary distance	HP:0006610
1009	CDH11	Craniosynostosis	HP:0001363
1009	CDH11	Narrow forehead	HP:0000341
1009	CDH11	Upper limb peromelia	HP:0009814
1009	CDH11	Short neck	HP:0000470
1009	CDH11	Long philtrum	HP:0000343
1009	CDH11	High palate	HP:0000218
1009	CDH11	Amelia involving the lower limbs	HP:0009818
1009	CDH11	Thin upper lip vermilion	HP:0000219
1009	CDH11	High forehead	HP:0000348
1009	CDH11	Thoracolumbar kyphoscoliosis	HP:0003423
1009	CDH11	Periorbital wrinkles	HP:0000607
1009	CDH11	Intellectual disability	HP:0001249
1009	CDH11	Seizures	HP:0001250
1009	CDH11	Advanced pneumatization of the mastoid process	HP:0010724
1009	CDH11	Megalocornea	HP:0000485
1009	CDH11	Posteriorly rotated ears	HP:0000358
1009	CDH11	Strabismus	HP:0000486
1009	CDH11	Anal stenosis	HP:0002025
1009	CDH11	Thin vermilion border	HP:0000233
1009	CDH11	Downslanted palpebral fissures	HP:0000494
1009	CDH11	Global developmental delay	HP:0001263
1009	CDH11	Unilateral cleft palate	HP:0100334
1009	CDH11	Low-set ears	HP:0000369
1009	CDH11	Eyelid coloboma	HP:0000625
1009	CDH11	Glaucoma	HP:0000501
1009	CDH11	Abnormality of the sella turcica	HP:0002679
1009	CDH11	Brachycephaly	HP:0000248
1009	CDH11	Highly arched eyebrow	HP:0002553
1009	CDH11	Telecanthus	HP:0000506
1009	CDH11	Thickened calvaria	HP:0002684
1009	CDH11	Microcephaly	HP:0000252
1009	CDH11	Blepharochalasis	HP:0010749
1009	CDH11	Pectus excavatum	HP:0000767
1013	CDH15	Intellectual disability	HP:0001249
1013	CDH15	Seizures	HP:0001250
1013	CDH15	Autosomal dominant inheritance	HP:0000006
1013	CDH15	Autistic behavior	HP:0000729
9210	BMP15	Abnormality of the uterus	HP:0000130
9210	BMP15	Increased circulating gonadotropin level	HP:0000837
9210	BMP15	Gonadal dysgenesis	HP:0000133
9210	BMP15	Autosomal dominant inheritance	HP:0000006
9210	BMP15	Aplasia/Hypoplasia of the breasts	HP:0010311
9210	BMP15	Hypoplasia of the uterus	HP:0000013
9210	BMP15	Arachnodactyly	HP:0001166
9210	BMP15	Decreased fertility	HP:0000144
9210	BMP15	Premature ovarian insufficiency	HP:0008209
9210	BMP15	Primary amenorrhea	HP:0000786
9210	BMP15	Abnormality of metabolism/homeostasis	HP:0001939
9210	BMP15	Decreased serum estradiol	HP:0008214
9210	BMP15	Pulmonary fibrosis	HP:0002206
9210	BMP15	Streak ovary	HP:0010464
9210	BMP15	Short stature	HP:0004322
9210	BMP15	Ataxia	HP:0001251
9210	BMP15	Secondary amenorrhea	HP:0000869
9210	BMP15	Osteopenia	HP:0000938
9210	BMP15	Aplasia/hypoplasia of the uterus	HP:0008684
9210	BMP15	Hearing impairment	HP:0000365
9210	BMP15	Hirsutism	HP:0001007
9210	BMP15	Hypergonadotropic hypogonadism	HP:0000815
9210	BMP15	Sparse pubic hair	HP:0002225
9210	BMP15	Delayed puberty	HP:0000823
9210	BMP15	Osteoporosis of vertebrae	HP:0005625
9210	BMP15	Microcephaly	HP:0000252
9210	BMP15	Delayed skeletal maturation	HP:0002750
9210	BMP15	Gonadal hypoplasia	HP:0008639
1019	CDK4	Neoplasm of the stomach	HP:0006753
1019	CDK4	Retinopathy	HP:0000488
1019	CDK4	Freckling	HP:0001480
1019	CDK4	Subcutaneous nodule	HP:0001482
1019	CDK4	Neoplasm of the breast	HP:0100013
1019	CDK4	Melanoma	HP:0002861
1019	CDK4	Neoplasm of the pancreas	HP:0002894
1019	CDK4	Abnormal renal physiology	HP:0012211
1019	CDK4	Gastrointestinal dysmotility	HP:0002579
1019	CDK4	Nevus	HP:0003764
1019	CDK4	Abnormality of extrapyramidal motor function	HP:0002071
1019	CDK4	Abnormality of the lymphatic system	HP:0100763
1019	CDK4	Abnormal hair morphology	HP:0001595
1019	CDK4	Dry skin	HP:0000958
9211	LGI1	Focal impaired awareness seizure	HP:0002384
9211	LGI1	Incomplete penetrance	HP:0003829
9211	LGI1	Autosomal dominant inheritance	HP:0000006
9211	LGI1	Generalized tonic-clonic seizures with focal onset	HP:0007334
9211	LGI1	Focal sensory auditory seizure	HP:0011158
9211	LGI1	Focal aware seizure	HP:0002349
1020	CDK5	Seizures	HP:0001250
1020	CDK5	Hand clenching	HP:0001188
1020	CDK5	Areflexia	HP:0001284
1020	CDK5	Full cheeks	HP:0000293
1020	CDK5	Autosomal recessive inheritance	HP:0000007
1020	CDK5	Cerebellar hypoplasia	HP:0001321
1020	CDK5	Agyria	HP:0031882
1020	CDK5	Lymphedema	HP:0001004
1020	CDK5	Hirsutism	HP:0001007
1020	CDK5	Global developmental delay	HP:0001263
1020	CDK5	Arthrogryposis multiplex congenita	HP:0002804
1020	CDK5	Short neck	HP:0000470
1020	CDK5	Congenital onset	HP:0003577
1020	CDK5	Agenesis of corpus callosum	HP:0001274
1020	CDK5	Lissencephaly	HP:0001339
1020	CDK5	Micrognathia	HP:0000347
1020	CDK5	Microcephaly	HP:0000252
9213	XPR1	Hepatomegaly	HP:0002240
9213	XPR1	Seizures	HP:0001250
9213	XPR1	Palilalia	HP:0031814
9213	XPR1	Autosomal dominant inheritance	HP:0000006
9213	XPR1	Intrauterine growth retardation	HP:0001511
9213	XPR1	Ventriculomegaly	HP:0002119
9213	XPR1	Depressivity	HP:0000716
9213	XPR1	Dysarthria	HP:0001260
9213	XPR1	Subcutaneous hemorrhage	HP:0001933
9213	XPR1	Thrombocytopenia	HP:0001873
9213	XPR1	Memory impairment	HP:0002354
9213	XPR1	Choreoathetosis	HP:0001266
9213	XPR1	Cerebral calcification	HP:0002514
9213	XPR1	Parkinsonism	HP:0001300
9213	XPR1	Corneal opacity	HP:0007957
9213	XPR1	Dementia	HP:0000726
9213	XPR1	Basal ganglia calcification	HP:0002135
9213	XPR1	Progressive	HP:0003676
9213	XPR1	Microcephaly	HP:0000252
9213	XPR1	Adult onset	HP:0003581
9213	XPR1	Abnormality of neuronal migration	HP:0002269
1021	CDK6	Short stature	HP:0004322
1021	CDK6	Hyperreflexia	HP:0001347
1021	CDK6	Hypoplasia of the frontal lobes	HP:0007333
1021	CDK6	Upslanted palpebral fissure	HP:0000582
1021	CDK6	Autosomal recessive inheritance	HP:0000007
1021	CDK6	Ventriculomegaly	HP:0002119
1021	CDK6	Intellectual disability, mild	HP:0001256
1021	CDK6	Gray matter heterotopia	HP:0002282
1021	CDK6	Vesicoureteral reflux	HP:0000076
1021	CDK6	Global developmental delay	HP:0001263
1021	CDK6	Intellectual disability, severe	HP:0010864
1021	CDK6	Sloping forehead	HP:0000340
1021	CDK6	Pachygyria	HP:0001302
1021	CDK6	Simplified gyral pattern	HP:0009879
1021	CDK6	Unilateral renal agenesis	HP:0000122
1021	CDK6	Agenesis of corpus callosum	HP:0001274
1021	CDK6	Thin upper lip vermilion	HP:0000219
1021	CDK6	Microcephaly	HP:0000252
1021	CDK6	Abnormal cortical bone morphology	HP:0003103
9215	LARGE1	Macrocephaly	HP:0000256
9215	LARGE1	Joint contracture of the hand	HP:0009473
9215	LARGE1	Areflexia	HP:0001284
9215	LARGE1	Cataract	HP:0000518
9215	LARGE1	Autosomal recessive inheritance	HP:0000007
9215	LARGE1	Gait disturbance	HP:0001288
9215	LARGE1	Infantile onset	HP:0003593
9215	LARGE1	Generalized hypotonia	HP:0001290
9215	LARGE1	Metatarsus valgus	HP:0010508
9215	LARGE1	Anophthalmia	HP:0000528
9215	LARGE1	Corneal opacity	HP:0007957
9215	LARGE1	Hemiplegia/hemiparesis	HP:0004374
9215	LARGE1	Pachygyria	HP:0001302
9215	LARGE1	Dandy-Walker malformation	HP:0001305
9215	LARGE1	Cryptorchidism	HP:0000028
9215	LARGE1	Retinal detachment	HP:0000541
9215	LARGE1	Hypoplasia of the corpus callosum	HP:0002079
9215	LARGE1	Hypoplasia of penis	HP:0008736
9215	LARGE1	Myopia	HP:0000545
9215	LARGE1	Retinal dysplasia	HP:0007973
9215	LARGE1	Occipital encephalocele	HP:0002085
9215	LARGE1	Cerebellar hypoplasia	HP:0001321
9215	LARGE1	Retinal dystrophy	HP:0000556
9215	LARGE1	Muscle weakness	HP:0001324
9215	LARGE1	Buphthalmos	HP:0000557
9215	LARGE1	Specific learning disability	HP:0001328
9215	LARGE1	EEG abnormality	HP:0002353
9215	LARGE1	Hypoplastic male external genitalia	HP:0000050
9215	LARGE1	Absent septum pellucidum	HP:0001331
9215	LARGE1	Chorioretinal dysplasia	HP:0007731
9215	LARGE1	Microphthalmia	HP:0000568
9215	LARGE1	Macrogyria	HP:0007227
9215	LARGE1	Hypoplasia of the brainstem	HP:0002365
9215	LARGE1	Abnormality of the voice	HP:0001608
9215	LARGE1	Coloboma	HP:0000589
9215	LARGE1	Hypoplasia of the pons	HP:0012110
9215	LARGE1	Polymicrogyria	HP:0002126
9215	LARGE1	Holoprosencephaly	HP:0001360
9215	LARGE1	Retinal atrophy	HP:0001105
9215	LARGE1	Flexion contracture	HP:0001371
9215	LARGE1	Lower limb hyperreflexia	HP:0002395
9215	LARGE1	Type II lissencephaly	HP:0007260
9215	LARGE1	Optic nerve hypoplasia	HP:0000609
9215	LARGE1	Iris coloboma	HP:0000612
9215	LARGE1	Posteriorly rotated ears	HP:0000358
9215	LARGE1	Microtia	HP:0008551
9215	LARGE1	Blindness	HP:0000618
9215	LARGE1	Renal dysplasia	HP:0000110
9215	LARGE1	Intellectual disability, severe	HP:0010864
9215	LARGE1	Abnormal aldolase level	HP:0012400
9215	LARGE1	Low-set ears	HP:0000369
9215	LARGE1	Proximal muscle weakness	HP:0003701
9215	LARGE1	Neurological speech impairment	HP:0002167
9215	LARGE1	Cerebellar dysplasia	HP:0007033
9215	LARGE1	Posterior fossa cyst	HP:0007291
9215	LARGE1	Myopathy	HP:0003198
9215	LARGE1	EMG abnormality	HP:0003457
9215	LARGE1	Skeletal muscle atrophy	HP:0003202
9215	LARGE1	EMG: myopathic abnormalities	HP:0003458
9215	LARGE1	Meningocele	HP:0002435
9215	LARGE1	Facial palsy	HP:0010628
9215	LARGE1	Optic atrophy	HP:0000648
9215	LARGE1	Agyria	HP:0031882
9215	LARGE1	Intellectual disability, profound	HP:0002187
9215	LARGE1	Excessive daytime sleepiness	HP:0002189
9215	LARGE1	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
9215	LARGE1	Heterogeneous	HP:0001425
9215	LARGE1	Abnormal circulating creatine kinase concentration	HP:0040081
9215	LARGE1	Peters anomaly	HP:0000659
9215	LARGE1	Horizontal nystagmus	HP:0000666
9215	LARGE1	Protruding ear	HP:0000411
9215	LARGE1	Atresia of the external auditory canal	HP:0000413
9215	LARGE1	Congenital muscular dystrophy	HP:0003741
9215	LARGE1	Macroglossia	HP:0000158
9215	LARGE1	Babinski sign	HP:0003487
9215	LARGE1	Elevated serum creatine kinase	HP:0003236
9215	LARGE1	Elbow flexion contracture	HP:0002987
9215	LARGE1	Severe muscular hypotonia	HP:0006829
9215	LARGE1	Cleft palate	HP:0000175
9215	LARGE1	Submucous cleft hard palate	HP:0000176
9215	LARGE1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
9215	LARGE1	Cognitive impairment	HP:0100543
9215	LARGE1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9215	LARGE1	Bifid uvula	HP:0000193
9215	LARGE1	Cleft upper lip	HP:0000204
9215	LARGE1	Abnormality of the periventricular white matter	HP:0002518
9215	LARGE1	Abnormality of neuronal migration	HP:0002269
9215	LARGE1	Intellectual disability	HP:0001249
9215	LARGE1	Seizures	HP:0001250
9215	LARGE1	Microcornea	HP:0000482
9215	LARGE1	Short stature	HP:0004322
9215	LARGE1	Muscular hypotonia	HP:0001252
9215	LARGE1	Megalocornea	HP:0000485
9215	LARGE1	Strabismus	HP:0000486
9215	LARGE1	Anal atresia	HP:0002023
9215	LARGE1	Muscular dystrophy	HP:0003560
9215	LARGE1	Meningoencephalocele	HP:0006888
9215	LARGE1	Achilles tendon contracture	HP:0001771
9215	LARGE1	Hydrocephalus	HP:0000238
9215	LARGE1	Global developmental delay	HP:0001263
9215	LARGE1	Abnormal lactate dehydrogenase activity	HP:0045040
9215	LARGE1	Hyporeflexia	HP:0001265
9215	LARGE1	Congenital contracture	HP:0002803
9215	LARGE1	Glaucoma	HP:0000501
9215	LARGE1	Motor delay	HP:0001270
9215	LARGE1	Visual impairment	HP:0000505
9215	LARGE1	Agenesis of corpus callosum	HP:0001274
9215	LARGE1	Hypertonia	HP:0001276
9215	LARGE1	Microcephaly	HP:0000252
91137	SLC25A46	Exotropia	HP:0000577
91137	SLC25A46	Hyperreflexia	HP:0001347
91137	SLC25A46	Autosomal recessive inheritance	HP:0000007
91137	SLC25A46	Optic atrophy	HP:0000648
91137	SLC25A46	Generalized hypotonia	HP:0001290
91137	SLC25A46	Anteverted nares	HP:0000463
91137	SLC25A46	Progressive visual loss	HP:0000529
91137	SLC25A46	Narrow forehead	HP:0000341
91137	SLC25A46	Flexion contracture	HP:0001371
91137	SLC25A46	Bulbous nose	HP:0000414
91137	SLC25A46	Dysmetria	HP:0001310
91137	SLC25A46	Tapered finger	HP:0001182
91137	SLC25A46	Babinski sign	HP:0003487
91137	SLC25A46	Pes cavus	HP:0001761
91137	SLC25A46	Ataxia	HP:0001251
91137	SLC25A46	Muscle weakness	HP:0001324
91137	SLC25A46	Global developmental delay	HP:0001263
91137	SLC25A46	Steppage gait	HP:0003376
91137	SLC25A46	Hyporeflexia	HP:0001265
91137	SLC25A46	Inverted nipples	HP:0003186
91137	SLC25A46	Tented upper lip vermilion	HP:0010804
91137	SLC25A46	Variable expressivity	HP:0003828
91137	SLC25A46	Cerebellar atrophy	HP:0001272
91137	SLC25A46	Distal sensory impairment	HP:0002936
91137	SLC25A46	Myoclonus	HP:0001336
91137	SLC25A46	Tremor	HP:0001337
91137	SLC25A46	Narrow palate	HP:0000189
91137	SLC25A46	Nystagmus	HP:0000639
9217	VAPB	Muscle spasm	HP:0003394
9217	VAPB	Skeletal muscle atrophy	HP:0003202
9217	VAPB	Areflexia	HP:0001284
9217	VAPB	Neurodegeneration	HP:0002180
9217	VAPB	Autosomal dominant inheritance	HP:0000006
9217	VAPB	Emotional lability	HP:0000712
9217	VAPB	Agitation	HP:0000713
9217	VAPB	Fasciculations	HP:0002380
9217	VAPB	Depressivity	HP:0000716
9217	VAPB	Morphological abnormality of the pyramidal tract	HP:0002062
9217	VAPB	Paralysis	HP:0003470
9217	VAPB	Laryngospasm	HP:0025425
9217	VAPB	Xerostomia	HP:0000217
9217	VAPB	Fatigue	HP:0012378
9217	VAPB	Distal muscle weakness	HP:0002460
9217	VAPB	Dysphagia	HP:0002015
9217	VAPB	Neuronal loss in central nervous system	HP:0002529
9217	VAPB	Nausea and vomiting	HP:0002017
9217	VAPB	Anxiety	HP:0000739
9217	VAPB	Spinal muscular atrophy	HP:0007269
9217	VAPB	Spasticity	HP:0001257
9217	VAPB	Dysarthria	HP:0001260
9217	VAPB	Dyspnea	HP:0002094
9217	VAPB	Hyporeflexia	HP:0001265
9217	VAPB	Fatigable weakness of swallowing muscles	HP:0030195
9217	VAPB	Pain	HP:0012531
9217	VAPB	Fatigable weakness of respiratory muscles	HP:0030196
9217	VAPB	Proximal muscle weakness	HP:0003701
9217	VAPB	EMG: neuropathic changes	HP:0003445
9217	VAPB	Amyotrophic lateral sclerosis	HP:0007354
9217	VAPB	Progressive muscle weakness	HP:0003323
9217	VAPB	Generalized muscle weakness	HP:0003324
9217	VAPB	Postural tremor	HP:0002174
9217	VAPB	Respiratory failure	HP:0002878
1026	CDKN1A	Hypercalcemia	HP:0003072
1026	CDKN1A	Adrenocortical adenoma	HP:0008256
1026	CDKN1A	Glucagonoma	HP:0030404
1026	CDKN1A	Subcutaneous lipoma	HP:0001031
1026	CDKN1A	Hyperparathyroidism	HP:0000843
1026	CDKN1A	Growth hormone excess	HP:0000845
1026	CDKN1A	Episodic abdominal pain	HP:0002574
1026	CDKN1A	Parathyroid hyperplasia	HP:0008208
1026	CDKN1A	Parathyroid adenoma	HP:0002897
1026	CDKN1A	Thyroid adenoma	HP:0000854
1026	CDKN1A	Adrenocortical carcinoma	HP:0006744
1026	CDKN1A	Esophagitis	HP:0100633
1026	CDKN1A	Confetti-like hypopigmented macules	HP:0007449
1026	CDKN1A	Fasting hyperinsulinemia	HP:0008283
1026	CDKN1A	Carcinoid tumor	HP:0100570
1026	CDKN1A	Elevated circulating parathyroid hormone level	HP:0003165
1026	CDKN1A	Diarrhea	HP:0002014
1026	CDKN1A	Erythema	HP:0010783
1026	CDKN1A	Increased glucagon level	HP:0030688
1026	CDKN1A	Pituitary corticotropic cell adenoma	HP:0008291
1026	CDKN1A	Insulinoma	HP:0012197
1026	CDKN1A	Thymoma	HP:0100522
1026	CDKN1A	Extrahepatic cholestasis	HP:0012334
1026	CDKN1A	Peptic ulcer	HP:0004398
1026	CDKN1A	Increased circulating cortisol level	HP:0003118
1026	CDKN1A	Pituitary prolactin cell adenoma	HP:0006767
1026	CDKN1A	Pituitary growth hormone cell adenoma	HP:0011760
1026	CDKN1A	Pituitary null cell adenoma	HP:0011761
1026	CDKN1A	Angiofibromas	HP:0010615
1026	CDKN1A	Hyperinsulinemic hypoglycemia	HP:0000825
1026	CDKN1A	Zollinger-Ellison syndrome	HP:0002044
1026	CDKN1A	Increased urinary cortisol level	HP:0012030
1027	CDKN1B	Hypercalcemia	HP:0003072
1027	CDKN1B	Adrenocortical adenoma	HP:0008256
1027	CDKN1B	Glucagonoma	HP:0030404
1027	CDKN1B	Autosomal dominant inheritance	HP:0000006
1027	CDKN1B	Subcutaneous lipoma	HP:0001031
1027	CDKN1B	Carcinoma	HP:0030731
1027	CDKN1B	Hyperparathyroidism	HP:0000843
1027	CDKN1B	Growth hormone excess	HP:0000845
1027	CDKN1B	Pituitary adenoma	HP:0002893
1027	CDKN1B	Episodic abdominal pain	HP:0002574
1027	CDKN1B	Abnormality of the urinary system	HP:0000079
1027	CDKN1B	Parathyroid hyperplasia	HP:0008208
1027	CDKN1B	Parathyroid adenoma	HP:0002897
1027	CDKN1B	Thyroid adenoma	HP:0000854
1027	CDKN1B	Esophagitis	HP:0100633
1027	CDKN1B	Adrenocortical carcinoma	HP:0006744
1027	CDKN1B	Confetti-like hypopigmented macules	HP:0007449
1027	CDKN1B	Carcinoid tumor	HP:0100570
1027	CDKN1B	Fasting hyperinsulinemia	HP:0008283
1027	CDKN1B	Elevated circulating parathyroid hormone level	HP:0003165
1027	CDKN1B	Diarrhea	HP:0002014
1027	CDKN1B	Erythema	HP:0010783
1027	CDKN1B	Increased glucagon level	HP:0030688
1027	CDKN1B	Pituitary corticotropic cell adenoma	HP:0008291
1027	CDKN1B	Testicular neoplasm	HP:0010788
1027	CDKN1B	Insulinoma	HP:0012197
1027	CDKN1B	Thymoma	HP:0100522
1027	CDKN1B	Pulmonary carcinoid tumor	HP:0030445
1027	CDKN1B	Peptic ulcer	HP:0004398
1027	CDKN1B	Increased circulating cortisol level	HP:0003118
1027	CDKN1B	Extrahepatic cholestasis	HP:0012334
1027	CDKN1B	Pituitary prolactin cell adenoma	HP:0006767
1027	CDKN1B	Pituitary growth hormone cell adenoma	HP:0011760
1027	CDKN1B	Pituitary null cell adenoma	HP:0011761
1027	CDKN1B	Renal angiomyolipoma	HP:0006772
1027	CDKN1B	Angiofibromas	HP:0010615
1027	CDKN1B	Hyperinsulinemic hypoglycemia	HP:0000825
1027	CDKN1B	Parathyroid carcinoma	HP:0006780
1027	CDKN1B	Zollinger-Ellison syndrome	HP:0002044
1027	CDKN1B	Increased urinary cortisol level	HP:0012030
1027	CDKN1B	Cervix cancer	HP:0030079
1028	CDKN1C	Macrocephaly	HP:0000256
1028	CDKN1C	Hypercalcemia	HP:0003072
1028	CDKN1C	Omphalocele	HP:0001539
1028	CDKN1C	Diastasis recti	HP:0001540
1028	CDKN1C	Pancreatic hyperplasia	HP:0006277
1028	CDKN1C	Autosomal dominant inheritance	HP:0000006
1028	CDKN1C	Hypogonadism	HP:0000135
1028	CDKN1C	Proptosis	HP:0000520
1028	CDKN1C	Overgrowth	HP:0001548
1028	CDKN1C	Prominent occiput	HP:0000269
1028	CDKN1C	Nephrolithiasis	HP:0000787
1028	CDKN1C	Gonadoblastoma	HP:0000150
1028	CDKN1C	Coarse facial features	HP:0000280
1028	CDKN1C	Midface retrusion	HP:0011800
1028	CDKN1C	Dandy-Walker malformation	HP:0001305
1028	CDKN1C	Nevus flammeus	HP:0001052
1028	CDKN1C	Cryptorchidism	HP:0000028
1028	CDKN1C	Macroglossia	HP:0000158
1028	CDKN1C	Metaphyseal dysplasia	HP:0100255
1028	CDKN1C	Decreased testicular size	HP:0008734
1028	CDKN1C	Depressed nasal bridge	HP:0005280
1028	CDKN1C	Renal cortical cysts	HP:0000803
1028	CDKN1C	Micromelia	HP:0002983
1028	CDKN1C	Overgrowth of external genitalia	HP:0003247
1028	CDKN1C	Hypospadias	HP:0000047
1028	CDKN1C	Micropenis	HP:0000054
1028	CDKN1C	Growth hormone deficiency	HP:0000824
1028	CDKN1C	Delayed skeletal maturation	HP:0002750
1028	CDKN1C	Hepatomegaly	HP:0002240
1028	CDKN1C	Postnatal growth retardation	HP:0008897
1028	CDKN1C	Adrenal hypoplasia	HP:0000835
1028	CDKN1C	Hepatoblastoma	HP:0002884
1028	CDKN1C	Posterior helix pit	HP:0008523
1028	CDKN1C	Vesicoureteral reflux	HP:0000076
1028	CDKN1C	Neonatal hypoglycemia	HP:0001998
1028	CDKN1C	Prominent forehead	HP:0011220
1028	CDKN1C	Frontal bossing	HP:0002007
1028	CDKN1C	Adrenocortical carcinoma	HP:0006744
1028	CDKN1C	Epiphyseal dysplasia	HP:0002656
1028	CDKN1C	Short stature	HP:0004322
1028	CDKN1C	Muscular hypotonia	HP:0001252
1028	CDKN1C	Cardiomyopathy	HP:0001638
1028	CDKN1C	Hypercalciuria	HP:0002150
1028	CDKN1C	Intrauterine growth retardation	HP:0001511
1028	CDKN1C	Cardiomegaly	HP:0001640
1028	CDKN1C	Enlarged kidney	HP:0000105
1028	CDKN1C	Nephroblastoma	HP:0002667
1028	CDKN1C	Large fontanelles	HP:0000239
1028	CDKN1C	Prominent metopic ridge	HP:0005487
1028	CDKN1C	Global developmental delay	HP:0001263
1028	CDKN1C	Accelerated skeletal maturation	HP:0005616
1028	CDKN1C	Low-set ears	HP:0000369
1028	CDKN1C	Hemihypertrophy	HP:0001528
1028	CDKN1C	Nephrocalcinosis	HP:0000121
1028	CDKN1C	Adrenocortical cytomegaly	HP:0008186
1028	CDKN1C	Short nose	HP:0003196
1028	CDKN1C	Hydronephrosis	HP:0000126
1029	CDKN2A	Functional intestinal obstruction	HP:0005249
1029	CDKN2A	Neoplasm of the skin	HP:0008069
1029	CDKN2A	Pancreatic adenocarcinoma	HP:0006725
1029	CDKN2A	Autosomal dominant inheritance	HP:0000006
1029	CDKN2A	Freckling	HP:0001480
1029	CDKN2A	Exocrine pancreatic insufficiency	HP:0001738
1029	CDKN2A	Neoplasm of the pancreas	HP:0002894
1029	CDKN2A	Intermittent diarrhea	HP:0002254
1029	CDKN2A	Progressive encephalopathy	HP:0002448
1029	CDKN2A	Chronic fatigue	HP:0012432
1029	CDKN2A	Neoplasm of the liver	HP:0002896
1029	CDKN2A	Sarcoma	HP:0100242
1029	CDKN2A	Oropharyngeal squamous cell carcinoma	HP:0012182
1029	CDKN2A	Neoplasm of the nervous system	HP:0004375
1029	CDKN2A	Abnormality of extrapyramidal motor function	HP:0002071
1029	CDKN2A	Cutaneous melanoma	HP:0012056
1029	CDKN2A	Hepatosplenomegaly	HP:0001433
1029	CDKN2A	Abnormality of the lymphatic system	HP:0100763
1029	CDKN2A	Back pain	HP:0003418
1029	CDKN2A	Lymphadenopathy	HP:0002716
1029	CDKN2A	Elevated hepatic transaminase	HP:0002910
1029	CDKN2A	Neoplasm of the adrenal cortex	HP:0100641
1029	CDKN2A	Weight loss	HP:0001824
1029	CDKN2A	Neoplasm of the stomach	HP:0006753
1029	CDKN2A	Nausea and vomiting	HP:0002017
1029	CDKN2A	Intestinal pseudo-obstruction	HP:0004389
1029	CDKN2A	Ovarian carcinoma	HP:0025318
1029	CDKN2A	Retinopathy	HP:0000488
1029	CDKN2A	Lymphoma	HP:0002665
1029	CDKN2A	Abdominal pain	HP:0002027
1029	CDKN2A	Neoplasm of the breast	HP:0100013
1029	CDKN2A	Poor appetite	HP:0004396
1029	CDKN2A	Squamous cell carcinoma	HP:0002860
1029	CDKN2A	Osteosarcoma	HP:0002669
1029	CDKN2A	Melanoma	HP:0002861
1029	CDKN2A	Extrahepatic cholestasis	HP:0012334
1029	CDKN2A	Pancreatic squamous cell carcinoma	HP:0012142
1029	CDKN2A	Neoplasm of the colon	HP:0100273
1029	CDKN2A	Peritoneal abscess	HP:0100592
1029	CDKN2A	Diabetes mellitus	HP:0000819
1029	CDKN2A	Nevus	HP:0003764
1029	CDKN2A	Anorexia	HP:0002039
1029	CDKN2A	Jaundice	HP:0000952
1029	CDKN2A	Astrocytoma	HP:0009592
1029	CDKN2A	Breast carcinoma	HP:0003002
1029	CDKN2A	Abnormal hair morphology	HP:0001595
1029	CDKN2A	Colon cancer	HP:0003003
1029	CDKN2A	Dry skin	HP:0000958
1030	CDKN2B	Hypercalcemia	HP:0003072
1030	CDKN2B	Adrenocortical adenoma	HP:0008256
1030	CDKN2B	Glucagonoma	HP:0030404
1030	CDKN2B	Subcutaneous lipoma	HP:0001031
1030	CDKN2B	Freckling	HP:0001480
1030	CDKN2B	Hyperparathyroidism	HP:0000843
1030	CDKN2B	Growth hormone excess	HP:0000845
1030	CDKN2B	Neoplasm of the pancreas	HP:0002894
1030	CDKN2B	Episodic abdominal pain	HP:0002574
1030	CDKN2B	Parathyroid hyperplasia	HP:0008208
1030	CDKN2B	Parathyroid adenoma	HP:0002897
1030	CDKN2B	Thyroid adenoma	HP:0000854
1030	CDKN2B	Abnormality of extrapyramidal motor function	HP:0002071
1030	CDKN2B	Adrenocortical carcinoma	HP:0006744
1030	CDKN2B	Esophagitis	HP:0100633
1030	CDKN2B	Confetti-like hypopigmented macules	HP:0007449
1030	CDKN2B	Abnormality of the lymphatic system	HP:0100763
1030	CDKN2B	Fasting hyperinsulinemia	HP:0008283
1030	CDKN2B	Carcinoid tumor	HP:0100570
1030	CDKN2B	Elevated circulating parathyroid hormone level	HP:0003165
1030	CDKN2B	Diarrhea	HP:0002014
1030	CDKN2B	Erythema	HP:0010783
1030	CDKN2B	Increased glucagon level	HP:0030688
1030	CDKN2B	Neoplasm of the stomach	HP:0006753
1030	CDKN2B	Pituitary corticotropic cell adenoma	HP:0008291
1030	CDKN2B	Insulinoma	HP:0012197
1030	CDKN2B	Retinopathy	HP:0000488
1030	CDKN2B	Thymoma	HP:0100522
1030	CDKN2B	Neoplasm of the breast	HP:0100013
1030	CDKN2B	Melanoma	HP:0002861
1030	CDKN2B	Extrahepatic cholestasis	HP:0012334
1030	CDKN2B	Peptic ulcer	HP:0004398
1030	CDKN2B	Increased circulating cortisol level	HP:0003118
1030	CDKN2B	Pituitary prolactin cell adenoma	HP:0006767
1030	CDKN2B	Pituitary growth hormone cell adenoma	HP:0011760
1030	CDKN2B	Pituitary null cell adenoma	HP:0011761
1030	CDKN2B	Nevus	HP:0003764
1030	CDKN2B	Angiofibromas	HP:0010615
1030	CDKN2B	Hyperinsulinemic hypoglycemia	HP:0000825
1030	CDKN2B	Abnormal hair morphology	HP:0001595
1030	CDKN2B	Zollinger-Ellison syndrome	HP:0002044
1030	CDKN2B	Dry skin	HP:0000958
1030	CDKN2B	Increased urinary cortisol level	HP:0012030
1031	CDKN2C	Hypercalcemia	HP:0003072
1031	CDKN2C	Adrenocortical adenoma	HP:0008256
1031	CDKN2C	Glucagonoma	HP:0030404
1031	CDKN2C	Subcutaneous lipoma	HP:0001031
1031	CDKN2C	Hyperparathyroidism	HP:0000843
1031	CDKN2C	Growth hormone excess	HP:0000845
1031	CDKN2C	Episodic abdominal pain	HP:0002574
1031	CDKN2C	Parathyroid hyperplasia	HP:0008208
1031	CDKN2C	Parathyroid adenoma	HP:0002897
1031	CDKN2C	Thyroid adenoma	HP:0000854
1031	CDKN2C	Adrenocortical carcinoma	HP:0006744
1031	CDKN2C	Esophagitis	HP:0100633
1031	CDKN2C	Confetti-like hypopigmented macules	HP:0007449
1031	CDKN2C	Fasting hyperinsulinemia	HP:0008283
1031	CDKN2C	Carcinoid tumor	HP:0100570
1031	CDKN2C	Elevated circulating parathyroid hormone level	HP:0003165
1031	CDKN2C	Diarrhea	HP:0002014
1031	CDKN2C	Erythema	HP:0010783
1031	CDKN2C	Increased glucagon level	HP:0030688
1031	CDKN2C	Pituitary corticotropic cell adenoma	HP:0008291
1031	CDKN2C	Insulinoma	HP:0012197
1031	CDKN2C	Thymoma	HP:0100522
1031	CDKN2C	Extrahepatic cholestasis	HP:0012334
1031	CDKN2C	Peptic ulcer	HP:0004398
1031	CDKN2C	Increased circulating cortisol level	HP:0003118
1031	CDKN2C	Pituitary prolactin cell adenoma	HP:0006767
1031	CDKN2C	Pituitary growth hormone cell adenoma	HP:0011760
1031	CDKN2C	Pituitary null cell adenoma	HP:0011761
1031	CDKN2C	Angiofibromas	HP:0010615
1031	CDKN2C	Hyperinsulinemic hypoglycemia	HP:0000825
1031	CDKN2C	Zollinger-Ellison syndrome	HP:0002044
1031	CDKN2C	Increased urinary cortisol level	HP:0012030
1032	CDKN2D	Neoplasm of the stomach	HP:0006753
1032	CDKN2D	Nevus	HP:0003764
1032	CDKN2D	Abnormality of extrapyramidal motor function	HP:0002071
1032	CDKN2D	Retinopathy	HP:0000488
1032	CDKN2D	Freckling	HP:0001480
1032	CDKN2D	Abnormality of the lymphatic system	HP:0100763
1032	CDKN2D	Abnormal hair morphology	HP:0001595
1032	CDKN2D	Neoplasm of the breast	HP:0100013
1032	CDKN2D	Melanoma	HP:0002861
1032	CDKN2D	Neoplasm of the pancreas	HP:0002894
1032	CDKN2D	Dry skin	HP:0000958
105259599	H19-ICR	Hepatomegaly	HP:0002240
105259599	H19-ICR	Omphalocele	HP:0001539
105259599	H19-ICR	Diastasis recti	HP:0001540
105259599	H19-ICR	Hepatoblastoma	HP:0002884
105259599	H19-ICR	Pancreatic hyperplasia	HP:0006277
105259599	H19-ICR	Autosomal dominant inheritance	HP:0000006
105259599	H19-ICR	Proptosis	HP:0000520
105259599	H19-ICR	Posterior helix pit	HP:0008523
105259599	H19-ICR	Overgrowth	HP:0001548
105259599	H19-ICR	Vesicoureteral reflux	HP:0000076
105259599	H19-ICR	Prominent occiput	HP:0000269
105259599	H19-ICR	Neonatal hypoglycemia	HP:0001998
105259599	H19-ICR	Nephrolithiasis	HP:0000787
105259599	H19-ICR	Gonadoblastoma	HP:0000150
105259599	H19-ICR	Adrenocortical carcinoma	HP:0006744
105259599	H19-ICR	Coarse facial features	HP:0000280
105259599	H19-ICR	Midface retrusion	HP:0011800
105259599	H19-ICR	Dandy-Walker malformation	HP:0001305
105259599	H19-ICR	Nevus flammeus	HP:0001052
105259599	H19-ICR	Cryptorchidism	HP:0000028
105259599	H19-ICR	Macroglossia	HP:0000158
105259599	H19-ICR	Renal cortical cysts	HP:0000803
105259599	H19-ICR	Cardiomyopathy	HP:0001638
105259599	H19-ICR	Cardiomegaly	HP:0001640
105259599	H19-ICR	Enlarged kidney	HP:0000105
105259599	H19-ICR	Nephroblastoma	HP:0002667
105259599	H19-ICR	Overgrowth of external genitalia	HP:0003247
105259599	H19-ICR	Large fontanelles	HP:0000239
105259599	H19-ICR	Prominent metopic ridge	HP:0005487
105259599	H19-ICR	Accelerated skeletal maturation	HP:0005616
105259599	H19-ICR	Hemihypertrophy	HP:0001528
105259599	H19-ICR	Nephrocalcinosis	HP:0000121
105259599	H19-ICR	Adrenocortical cytomegaly	HP:0008186
91147	TMEM67	Macrocephaly	HP:0000256
91147	TMEM67	Short femoral neck	HP:0100864
91147	TMEM67	Multicystic kidney dysplasia	HP:0000003
91147	TMEM67	Cataract	HP:0000518
91147	TMEM67	Autosomal recessive inheritance	HP:0000007
91147	TMEM67	Gait disturbance	HP:0001288
91147	TMEM67	Infantile onset	HP:0003593
91147	TMEM67	Generalized hypotonia	HP:0001290
91147	TMEM67	Psychomotor retardation	HP:0025356
91147	TMEM67	Anophthalmia	HP:0000528
91147	TMEM67	Anencephaly	HP:0002323
91147	TMEM67	Chronic hepatic failure	HP:0100626
91147	TMEM67	Abnormal chorioretinal morphology	HP:0000532
91147	TMEM67	Long face	HP:0000276
91147	TMEM67	Inguinal hernia	HP:0000023
91147	TMEM67	Dandy-Walker malformation	HP:0001305
91147	TMEM67	Oligohydramnios	HP:0001562
91147	TMEM67	Cryptorchidism	HP:0000028
91147	TMEM67	Retinal degeneration	HP:0000546
91147	TMEM67	Encephalocele	HP:0002084
91147	TMEM67	Male pseudohermaphroditism	HP:0000037
91147	TMEM67	Full cheeks	HP:0000293
91147	TMEM67	Occipital encephalocele	HP:0002085
91147	TMEM67	Foot polydactyly	HP:0001829
91147	TMEM67	Postaxial foot polydactyly	HP:0001830
91147	TMEM67	Intellectual disability, moderate	HP:0002342
91147	TMEM67	Cerebellar vermis hypoplasia	HP:0001320
91147	TMEM67	Cystic liver disease	HP:0006706
91147	TMEM67	Congenital hepatic fibrosis	HP:0002612
91147	TMEM67	Pituitary hypothyroidism	HP:0008245
91147	TMEM67	Hypertension	HP:0000822
91147	TMEM67	Aplasia/Hypoplasia of the tongue	HP:0010295
91147	TMEM67	Chorioretinal coloboma	HP:0000567
91147	TMEM67	Round face	HP:0000311
91147	TMEM67	Microphthalmia	HP:0000568
91147	TMEM67	Growth hormone deficiency	HP:0000824
91147	TMEM67	Apnea	HP:0002104
91147	TMEM67	Tremor	HP:0001337
91147	TMEM67	Dilatation	HP:0002617
91147	TMEM67	Hypertelorism	HP:0000316
91147	TMEM67	Episodic tachypnea	HP:0002876
91147	TMEM67	Exotropia	HP:0000577
91147	TMEM67	Hyperreflexia	HP:0001347
91147	TMEM67	Urethral atresia	HP:0000068
91147	TMEM67	Breathing dysregulation	HP:0005957
91147	TMEM67	Biparietal narrowing	HP:0004422
91147	TMEM67	Ureteral duplication	HP:0000073
91147	TMEM67	Optic nerve coloboma	HP:0000588
91147	TMEM67	Coloboma	HP:0000589
91147	TMEM67	Chronic kidney disease	HP:0012622
91147	TMEM67	Polymicrogyria	HP:0002126
91147	TMEM67	Neoplasm of the liver	HP:0002896
91147	TMEM67	Renal insufficiency	HP:0000083
91147	TMEM67	Sloping forehead	HP:0000340
91147	TMEM67	Enlarged fossa interpeduncularis	HP:0100951
91147	TMEM67	Bowing of the long bones	HP:0006487
91147	TMEM67	Nephronophthisis	HP:0000090
91147	TMEM67	Scoliosis	HP:0002650
91147	TMEM67	Micrognathia	HP:0000347
91147	TMEM67	Talipes	HP:0001883
91147	TMEM67	Tubular atrophy	HP:0000092
91147	TMEM67	Skeletal dysplasia	HP:0002652
91147	TMEM67	Elevated hepatic transaminase	HP:0002910
91147	TMEM67	Abnormality of the hypothalamus-pituitary axis	HP:0000864
91147	TMEM67	Thickened superior cerebellar peduncle	HP:0002404
91147	TMEM67	Iris coloboma	HP:0000612
91147	TMEM67	Polyuria	HP:0000103
91147	TMEM67	Blindness	HP:0000618
91147	TMEM67	Renal corticomedullary cysts	HP:0000108
91147	TMEM67	Anemia	HP:0001903
91147	TMEM67	Low-set, posteriorly rotated ears	HP:0000368
91147	TMEM67	Nephropathy	HP:0000112
91147	TMEM67	Low-set ears	HP:0000369
91147	TMEM67	Cirrhosis	HP:0001394
91147	TMEM67	Hepatic fibrosis	HP:0001395
91147	TMEM67	Molar tooth sign on MRI	HP:0002419
91147	TMEM67	Aplasia/Hypoplasia of the iris	HP:0008053
91147	TMEM67	Pancreatic fibrosis	HP:0100732
91147	TMEM67	Nystagmus	HP:0000639
91147	TMEM67	Bile duct proliferation	HP:0001408
91147	TMEM67	Intrahepatic biliary atresia	HP:0005248
91147	TMEM67	Portal hypertension	HP:0001409
91147	TMEM67	Brachydactyly	HP:0001156
91147	TMEM67	Sclerocornea	HP:0000647
91147	TMEM67	Optic atrophy	HP:0000648
91147	TMEM67	Hand polydactyly	HP:0001161
91147	TMEM67	Postaxial hand polydactyly	HP:0001162
91147	TMEM67	Oculomotor apraxia	HP:0000657
91147	TMEM67	Heterogeneous	HP:0001425
91147	TMEM67	Conductive hearing impairment	HP:0000405
91147	TMEM67	Preaxial hand polydactyly	HP:0001177
91147	TMEM67	Wide mouth	HP:0000154
91147	TMEM67	Elongated superior cerebellar peduncle	HP:0011933
91147	TMEM67	Abnormality of abdomen morphology	HP:0001438
91147	TMEM67	Situs inversus totalis	HP:0001696
91147	TMEM67	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
91147	TMEM67	Polydipsia	HP:0001959
91147	TMEM67	Feeding difficulties in infancy	HP:0008872
91147	TMEM67	Osteopenia	HP:0000938
91147	TMEM67	Radial bowing	HP:0002986
91147	TMEM67	Prominent nasal bridge	HP:0000426
91147	TMEM67	Cleft palate	HP:0000175
91147	TMEM67	Anisocoria	HP:0009916
91147	TMEM67	Stage 5 chronic kidney disease	HP:0003774
91147	TMEM67	Delayed skeletal maturation	HP:0002750
91147	TMEM67	Hepatomegaly	HP:0002240
91147	TMEM67	Aplasia/Hypoplasia of the cerebellum	HP:0007360
91147	TMEM67	Pancreatic cysts	HP:0001737
91147	TMEM67	Depressed nasal ridge	HP:0000457
91147	TMEM67	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
91147	TMEM67	Oral cleft	HP:0000202
91147	TMEM67	Aganglionic megacolon	HP:0002251
91147	TMEM67	Tubular basement membrane disintegration	HP:0005583
91147	TMEM67	Anteverted nares	HP:0000463
91147	TMEM67	Splenomegaly	HP:0001744
91147	TMEM67	Asplenia	HP:0001746
91147	TMEM67	Accessory spleen	HP:0001747
91147	TMEM67	Multiple small medullary renal cysts	HP:0008659
91147	TMEM67	Lobar holoprosencephaly	HP:0006870
91147	TMEM67	True hermaphroditism	HP:0010459
91147	TMEM67	Furrowed tongue	HP:0000221
91147	TMEM67	Abnormality of neuronal migration	HP:0002269
91147	TMEM67	Intellectual disability	HP:0001249
91147	TMEM67	Microcornea	HP:0000482
91147	TMEM67	Seizures	HP:0001250
91147	TMEM67	Ataxia	HP:0001251
91147	TMEM67	Muscular hypotonia	HP:0001252
91147	TMEM67	Growth delay	HP:0001510
91147	TMEM67	Strabismus	HP:0000486
91147	TMEM67	Spasticity	HP:0001257
91147	TMEM67	Deeply set eye	HP:0000490
91147	TMEM67	Hydrocephalus	HP:0000238
91147	TMEM67	Global developmental delay	HP:0001263
91147	TMEM67	Abnormal form of the vertebral bodies	HP:0003312
91147	TMEM67	Visual impairment	HP:0000505
91147	TMEM67	Highly arched eyebrow	HP:0002553
91147	TMEM67	Microcephaly	HP:0000252
91147	TMEM67	Ptosis	HP:0000508
91147	TMEM67	Rod-cone dystrophy	HP:0000510
9227	LRAT	Abnormal electroretinogram	HP:0000512
9227	LRAT	Cataract	HP:0000518
9227	LRAT	Autosomal dominant inheritance	HP:0000006
9227	LRAT	Autosomal recessive inheritance	HP:0000007
9227	LRAT	Hypogonadism	HP:0000135
9227	LRAT	Optic atrophy	HP:0000648
9227	LRAT	X-linked recessive inheritance	HP:0001419
9227	LRAT	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
9227	LRAT	Conductive hearing impairment	HP:0000405
9227	LRAT	Nyctalopia	HP:0000662
9227	LRAT	Hemiplegia/hemiparesis	HP:0004374
9227	LRAT	Sensorineural hearing impairment	HP:0000407
9227	LRAT	Abnormality of retinal pigmentation	HP:0007703
9227	LRAT	Optic disc pallor	HP:0000543
9227	LRAT	Hypoplasia of penis	HP:0008736
9227	LRAT	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
9227	LRAT	Abnormal testis morphology	HP:0000035
9227	LRAT	Encephalocele	HP:0002084
9227	LRAT	Undetectable electroretinogram	HP:0000550
9227	LRAT	Wide nasal bridge	HP:0000431
9227	LRAT	Keratoconus	HP:0000563
9227	LRAT	Congenital blindness	HP:0007875
9227	LRAT	Hyperreflexia	HP:0001347
9227	LRAT	Hyperinsulinemia	HP:0000842
9227	LRAT	Anteverted nares	HP:0000463
9227	LRAT	Pallor	HP:0000980
9227	LRAT	Ophthalmoplegia	HP:0000602
9227	LRAT	Type II diabetes mellitus	HP:0005978
9227	LRAT	Atypical scarring of skin	HP:0000987
9227	LRAT	Abnormality of neuronal migration	HP:0002269
9227	LRAT	Falls	HP:0002527
9227	LRAT	Intellectual disability	HP:0001249
9227	LRAT	Seizures	HP:0001250
9227	LRAT	Muscular hypotonia	HP:0001252
9227	LRAT	Photophobia	HP:0000613
9227	LRAT	Obesity	HP:0001513
9227	LRAT	Blindness	HP:0000618
9227	LRAT	Constriction of peripheral visual field	HP:0001133
9227	LRAT	Hearing impairment	HP:0000365
9227	LRAT	Abnormal retinal vascular morphology	HP:0008046
9227	LRAT	Reduced visual acuity	HP:0007663
9227	LRAT	Global developmental delay	HP:0001263
9227	LRAT	Glaucoma	HP:0000501
9227	LRAT	Abnormality of fundus pigmentation	HP:0031605
9227	LRAT	Severely reduced visual acuity	HP:0001141
9227	LRAT	Progressive night blindness	HP:0007675
9227	LRAT	Abnormality of the optic disc	HP:0012795
9227	LRAT	Rod-cone dystrophy	HP:0000510
9227	LRAT	Nystagmus	HP:0000639
9230	RAB11B	Delayed ability to walk	HP:0031936
9230	RAB11B	Absent speech	HP:0001344
9230	RAB11B	Clinodactyly	HP:0030084
9230	RAB11B	Upslanted palpebral fissure	HP:0000582
9230	RAB11B	Optic atrophy	HP:0000648
9230	RAB11B	Unsteady gait	HP:0002317
9230	RAB11B	Abnormal facial shape	HP:0001999
9230	RAB11B	Gait ataxia	HP:0002066
9230	RAB11B	Happy demeanor	HP:0040082
9230	RAB11B	Hypermetropia	HP:0000540
9230	RAB11B	Stereotypy	HP:0000733
9230	RAB11B	Tapered finger	HP:0001182
9230	RAB11B	Delayed myelination	HP:0012448
9230	RAB11B	Pes cavus	HP:0001761
9230	RAB11B	Talipes equinovarus	HP:0001762
9230	RAB11B	Seizures	HP:0001250
9230	RAB11B	Strabismus	HP:0000486
9230	RAB11B	Cerebellar vermis hypoplasia	HP:0001320
9230	RAB11B	Spasticity	HP:0001257
9230	RAB11B	Facial hypotonia	HP:0000297
9230	RAB11B	Global developmental delay	HP:0001263
9230	RAB11B	Poor eye contact	HP:0000817
9230	RAB11B	Difficulty walking	HP:0002355
9230	RAB11B	Dystonia	HP:0001332
9230	RAB11B	Overlapping toe	HP:0001845
9230	RAB11B	Visual impairment	HP:0000505
9230	RAB11B	Single transverse palmar crease	HP:0000954
9230	RAB11B	Nystagmus	HP:0000639
1041	CDSN	Sparse scalp hair	HP:0002209
1041	CDSN	Short stature	HP:0004322
1041	CDSN	Autosomal dominant inheritance	HP:0000006
1041	CDSN	Autosomal recessive inheritance	HP:0000007
1041	CDSN	Increased circulating total IgE level	HP:0003212
1041	CDSN	Hypotrichosis of the scalp	HP:0004782
1041	CDSN	Onycholysis	HP:0001806
1041	CDSN	Abnormality of metabolism/homeostasis	HP:0001939
1041	CDSN	Asthma	HP:0002099
1041	CDSN	Congenital onset	HP:0003577
1041	CDSN	Brittle hair	HP:0002299
1041	CDSN	Scaling skin	HP:0040189
1041	CDSN	Pruritus	HP:0000989
1041	CDSN	Abnormality of hair texture	HP:0010719
1041	CDSN	Erythema	HP:0010783
9241	NOG	Aplastic/hypoplastic toenail	HP:0010624
9241	NOG	Progressive fusion 2nd-5th pip joints	HP:0006147
9241	NOG	Clinodactyly	HP:0030084
9241	NOG	Brachydactyly	HP:0001156
9241	NOG	Fused cervical vertebrae	HP:0002949
9241	NOG	Autosomal dominant inheritance	HP:0000006
9241	NOG	Anonychia	HP:0001798
9241	NOG	Congenital stapes ankylosis	HP:0007943
9241	NOG	Proximal symphalangism of hands	HP:0006152
9241	NOG	Absent distal interphalangeal creases	HP:0001032
9241	NOG	Camptodactyly of finger	HP:0100490
9241	NOG	Dislocated radial head	HP:0003083
9241	NOG	Abnormal vertebral morphology	HP:0003468
9241	NOG	Hypoplastic spinal processes	HP:0008460
9241	NOG	Narrow face	HP:0000275
9241	NOG	Conductive hearing impairment	HP:0000405
9241	NOG	Cubitus valgus	HP:0002967
9241	NOG	Sensorineural hearing impairment	HP:0000407
9241	NOG	Proximal placement of thumb	HP:0009623
9241	NOG	Enlargement of the costochondral junction	HP:0000920
9241	NOG	Absent fingernail	HP:0001817
9241	NOG	Short distal phalanx of finger	HP:0009882
9241	NOG	Hypermetropia	HP:0000540
9241	NOG	Progressive conductive hearing impairment	HP:0008607
9241	NOG	Short humerus	HP:0005792
9241	NOG	Low hanging columella	HP:0009765
9241	NOG	Short finger	HP:0009381
9241	NOG	Broad thumb	HP:0011304
9241	NOG	Proximal symphalangism	HP:0100264
9241	NOG	Fusion of midphalangeal joints	HP:0006187
9241	NOG	Symphalangism affecting the phalanges of the hand	HP:0009773
9241	NOG	Underdeveloped nasal alae	HP:0000430
9241	NOG	Bilateral single transverse palmar creases	HP:0007598
9241	NOG	Absent distal phalanges	HP:0005807
9241	NOG	Tarsal synostosis	HP:0008368
9241	NOG	Short 1st metacarpal	HP:0010034
9241	NOG	Distal symphalangism of hands	HP:0001204
9241	NOG	Short palm	HP:0004279
9241	NOG	Synostosis of carpal bones	HP:0005048
9241	NOG	Cutaneous finger syndactyly	HP:0010554
9241	NOG	Single transverse palmar crease	HP:0000954
9241	NOG	Abnormality of the nail	HP:0001597
9241	NOG	Short 5th metacarpal	HP:0010047
9241	NOG	Short distal phalanx of toe	HP:0001857
9241	NOG	Aplasia/Hypoplasia of the nails	HP:0008386
9241	NOG	Short philtrum	HP:0000322
9241	NOG	Facial asymmetry	HP:0000324
9241	NOG	Broad hallux	HP:0010055
9241	NOG	Type B brachydactyly	HP:0005831
9241	NOG	Aplasia/Hypoplasia of the distal phalanges of the toes	HP:0010185
9241	NOG	Limited neck range of motion	HP:0000466
9241	NOG	Aplasia/Hypoplasia of the middle phalanges of the toes	HP:0010194
9241	NOG	Cone-shaped epiphysis	HP:0010579
9241	NOG	2-3 toe syndactyly	HP:0004691
9241	NOG	Waddling gait	HP:0002515
9241	NOG	Abnormality of the ankles	HP:0003028
9241	NOG	Finger syndactyly	HP:0006101
9241	NOG	Thick upper lip vermilion	HP:0000215
9241	NOG	Spinal canal stenosis	HP:0003416
9241	NOG	Lower limb undergrowth	HP:0009816
9241	NOG	Proximal/middle symphalangism of 5th finger	HP:0009177
9241	NOG	Thin upper lip vermilion	HP:0000219
9241	NOG	Absent phalangeal crease	HP:0006109
9241	NOG	Humeroradial synostosis	HP:0003041
9241	NOG	Short stature	HP:0004322
9241	NOG	Elbow dislocation	HP:0003042
9241	NOG	Carpal synostosis	HP:0009702
9241	NOG	Strabismus	HP:0000486
9241	NOG	Toe syndactyly	HP:0001770
9241	NOG	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0009835
9241	NOG	Joint stiffness	HP:0001387
9241	NOG	Short foot	HP:0001773
9241	NOG	Short sternum	HP:0000879
9241	NOG	Hypoplastic nasal septum	HP:0005104
9241	NOG	Clinodactyly of the 5th finger	HP:0004209
9241	NOG	Short lower limbs	HP:0006385
9241	NOG	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0009843
9241	NOG	Long nose	HP:0003189
9241	NOG	Metacarpophalangeal synostosis	HP:0005880
9241	NOG	Radial deviation of finger	HP:0009466
9241	NOG	Stapes ankylosis	HP:0000381
9241	NOG	Cutaneous syndactyly of toes	HP:0010621
9241	NOG	Short hallux	HP:0010109
9241	NOG	Elbow ankylosis	HP:0003070
9241	NOG	Pectus excavatum	HP:0000767
1050	CEBPA	Somatic mutation	HP:0001428
1050	CEBPA	Autosomal dominant inheritance	HP:0000006
1050	CEBPA	Acute myeloid leukemia	HP:0004808
9244	CRLF1	Feeding difficulties	HP:0011968
9244	CRLF1	Opisthotonus	HP:0002179
9244	CRLF1	Facial palsy	HP:0010628
9244	CRLF1	Hypohidrosis	HP:0000966
9244	CRLF1	Autosomal recessive inheritance	HP:0000007
9244	CRLF1	Camptodactyly of finger	HP:0100490
9244	CRLF1	Nasal speech	HP:0001611
9244	CRLF1	Achalasia	HP:0002571
9244	CRLF1	Anteverted nares	HP:0000463
9244	CRLF1	Hyperhidrosis	HP:0000975
9244	CRLF1	Trismus	HP:0000211
9244	CRLF1	Short neck	HP:0000470
9244	CRLF1	Retrognathia	HP:0000278
9244	CRLF1	Long philtrum	HP:0000343
9244	CRLF1	High palate	HP:0000218
9244	CRLF1	Scoliosis	HP:0002650
9244	CRLF1	Micrognathia	HP:0000347
9244	CRLF1	Adducted thumb	HP:0001181
9244	CRLF1	Carious teeth	HP:0000670
9244	CRLF1	Tapered finger	HP:0001182
9244	CRLF1	Limitation of joint mobility	HP:0001376
9244	CRLF1	Narrow mouth	HP:0000160
9244	CRLF1	Depressed nasal bridge	HP:0005280
9244	CRLF1	Intellectual disability	HP:0001249
9244	CRLF1	Limited elbow extension	HP:0001377
9244	CRLF1	Camptodactyly	HP:0012385
9244	CRLF1	Seizures	HP:0001250
9244	CRLF1	Recurrent fever	HP:0001954
9244	CRLF1	Talipes equinovarus	HP:0001762
9244	CRLF1	Pes planus	HP:0001763
9244	CRLF1	Full cheeks	HP:0000293
9244	CRLF1	Feeding difficulties in infancy	HP:0008872
9244	CRLF1	Keratitis	HP:0000491
9244	CRLF1	Elbow flexion contracture	HP:0002987
9244	CRLF1	Respiratory insufficiency	HP:0002093
9244	CRLF1	Sudden cardiac death	HP:0001645
9244	CRLF1	Dyspnea	HP:0002094
9244	CRLF1	Low-set ears	HP:0000369
9244	CRLF1	Death in infancy	HP:0001522
9244	CRLF1	Short palm	HP:0004279
9244	CRLF1	Kyphosis	HP:0002808
9244	CRLF1	Large face	HP:0100729
9244	CRLF1	Radial deviation of finger	HP:0009466
9244	CRLF1	Hypertonia	HP:0001276
9244	CRLF1	Wide nose	HP:0000445
9244	CRLF1	Cognitive impairment	HP:0100543
9244	CRLF1	Malignant hyperthermia	HP:0002047
9244	CRLF1	Kyphoscoliosis	HP:0002751
1053	CEBPE	Autosomal recessive inheritance	HP:0000007
1053	CEBPE	Absent neutrophil specific granules	HP:0012551
1053	CEBPE	Hyposegmentation of neutrophil nuclei	HP:0011447
1053	CEBPE	Impaired neutrophil bactericidal activity	HP:0011993
1053	CEBPE	Recurrent bacterial infections	HP:0002718
9247	GCM2	Hypercalcemia	HP:0003072
9247	GCM2	Tetany	HP:0001281
9247	GCM2	Abdominal symptom	HP:0011458
9247	GCM2	Autosomal dominant inheritance	HP:0000006
9247	GCM2	Congenital hypoparathyroidism	HP:0008198
9247	GCM2	Cataract	HP:0000518
9247	GCM2	Primary hyperparathyroidism	HP:0008200
9247	GCM2	Decreased circulating parathyroid hormone level	HP:0031817
9247	GCM2	Parathyroid adenoma	HP:0002897
9247	GCM2	Cerebral calcification	HP:0002514
9247	GCM2	Nephrolithiasis	HP:0000787
9247	GCM2	Renal insufficiency	HP:0000083
9247	GCM2	Parathyroid agenesis	HP:0008211
9247	GCM2	Hypocalcemia	HP:0002901
9247	GCM2	Hypocalcemic seizures	HP:0002199
9247	GCM2	Hyperphosphatemia	HP:0002905
9247	GCM2	Elevated circulating parathyroid hormone level	HP:0003165
9247	GCM2	Generalized osteoporosis	HP:0040160
9247	GCM2	Seizures	HP:0001250
9247	GCM2	Hypophosphatemia	HP:0002148
9247	GCM2	Hyperphosphaturia	HP:0003109
9247	GCM2	Hypomagnesemia	HP:0002917
9247	GCM2	Chondrocalcinosis	HP:0000934
9247	GCM2	Hypercalciuria	HP:0002150
9247	GCM2	Osteopenia	HP:0000938
9247	GCM2	Male infertility	HP:0003251
9247	GCM2	Nephrocalcinosis	HP:0000121
9247	GCM2	Infantile hypercalcemia	HP:0008250
9247	GCM2	Parathyroid carcinoma	HP:0006780
9247	GCM2	Hypoparathyroidism	HP:0000829
1056	CEL	Autosomal dominant inheritance	HP:0000006
1056	CEL	Maturity-onset diabetes of the young	HP:0004904
1056	CEL	Abdominal pain	HP:0002027
1056	CEL	Abnormality of exocrine pancreas physiology	HP:0012092
1062	CENPE	Prominent nose	HP:0000448
1062	CENPE	Absent earlobe	HP:0000387
1062	CENPE	Prematurely aged appearance	HP:0007495
1062	CENPE	Autosomal recessive inheritance	HP:0000007
1062	CENPE	Reduced number of teeth	HP:0009804
1062	CENPE	Mild global developmental delay	HP:0011342
1062	CENPE	Narrow face	HP:0000275
1062	CENPE	Craniosynostosis	HP:0001363
1062	CENPE	Cone-shaped epiphysis	HP:0010579
1062	CENPE	Sloping forehead	HP:0000340
1062	CENPE	Simplified gyral pattern	HP:0009879
1062	CENPE	Scoliosis	HP:0002650
1062	CENPE	Micrognathia	HP:0000347
1062	CENPE	Intellectual disability	HP:0001249
1062	CENPE	Sparse scalp hair	HP:0002209
1062	CENPE	Short stature	HP:0004322
1062	CENPE	Seizures	HP:0001250
1062	CENPE	Cachexia	HP:0004326
1062	CENPE	Intrauterine growth retardation	HP:0001511
1062	CENPE	Hip dysplasia	HP:0001385
1062	CENPE	Cerebellar hypoplasia	HP:0001321
1062	CENPE	Abnormality of dental enamel	HP:0000682
1062	CENPE	Short foot	HP:0001773
1062	CENPE	Downslanted palpebral fissures	HP:0000494
1062	CENPE	Clinodactyly of the 5th finger	HP:0004209
1062	CENPE	Metaphyseal sclerosis	HP:0004979
1062	CENPE	Small hand	HP:0200055
1062	CENPE	Glaucoma	HP:0000501
1062	CENPE	Round face	HP:0000311
1062	CENPE	Partial agenesis of the corpus callosum	HP:0001338
1062	CENPE	Convex nasal ridge	HP:0000444
1062	CENPE	Microcephaly	HP:0000252
1062	CENPE	Sandal gap	HP:0001852
1062	CENPE	Joint hyperflexibility	HP:0005692
1062	CENPE	Delayed skeletal maturation	HP:0002750
1062	CENPE	Cognitive impairment	HP:0100543
1063	CENPF	Intestinal malrotation	HP:0002566
1063	CENPF	Cataract	HP:0000518
1063	CENPF	Autosomal recessive inheritance	HP:0000007
1063	CENPF	Duodenal atresia	HP:0002247
1063	CENPF	Sclerocornea	HP:0000647
1063	CENPF	Short columella	HP:0002000
1063	CENPF	Peters anomaly	HP:0000659
1063	CENPF	Wide mouth	HP:0000154
1063	CENPF	Optic nerve hypoplasia	HP:0000609
1063	CENPF	Microcornea	HP:0000482
1063	CENPF	Iris coloboma	HP:0000612
1063	CENPF	Cerebellar vermis hypoplasia	HP:0001320
1063	CENPF	Bilateral renal hypoplasia	HP:0012584
1063	CENPF	Cerebellar hypoplasia	HP:0001321
1063	CENPF	Retinal vascular tortuosity	HP:0012841
1063	CENPF	Prominent nasal bridge	HP:0000426
1063	CENPF	Deeply set eye	HP:0000490
1063	CENPF	Hydrocephalus	HP:0000238
1063	CENPF	Cleft palate	HP:0000175
1063	CENPF	Wide nasal bridge	HP:0000431
1063	CENPF	Stillbirth	HP:0003826
1063	CENPF	Jejunal atresia	HP:0005235
1063	CENPF	Microphthalmia	HP:0000568
1063	CENPF	Congenital onset	HP:0003577
1063	CENPF	Agenesis of corpus callosum	HP:0001274
1063	CENPF	Hypertelorism	HP:0000316
1063	CENPF	Myopathy	HP:0003198
1063	CENPF	Hydronephrosis	HP:0000126
9255	AIMP1	Seizures	HP:0001250
9255	AIMP1	Failure to thrive	HP:0001508
9255	AIMP1	Sudanophilic leukodystrophy	HP:0003269
9255	AIMP1	Diffuse cerebral sclerosis	HP:0006918
9255	AIMP1	Autosomal recessive inheritance	HP:0000007
9255	AIMP1	Muscular hypotonia of the trunk	HP:0008936
9255	AIMP1	Spastic paraparesis	HP:0002313
9255	AIMP1	Corpus callosum atrophy	HP:0007371
9255	AIMP1	Global brain atrophy	HP:0002283
9255	AIMP1	Global developmental delay	HP:0001263
9255	AIMP1	Leukodystrophy	HP:0002415
9255	AIMP1	EEG abnormality	HP:0002353
9255	AIMP1	Death in infancy	HP:0001522
9255	AIMP1	Arthrogryposis multiplex congenita	HP:0002804
9255	AIMP1	Progressive flexion contractures	HP:0005876
9255	AIMP1	Premature birth	HP:0001622
9255	AIMP1	Abnormal pyramidal sign	HP:0007256
9255	AIMP1	Coarse facial features	HP:0000280
9255	AIMP1	Visual impairment	HP:0000505
9255	AIMP1	Projectile vomiting	HP:0002587
9255	AIMP1	Progressive	HP:0003676
9255	AIMP1	Microcephaly	HP:0000252
9255	AIMP1	Nystagmus	HP:0000639
9255	AIMP1	Kyphoscoliosis	HP:0002751
91179	SCARF2	Laryngomalacia	HP:0001601
91179	SCARF2	Joint contracture of the hand	HP:0009473
91179	SCARF2	Stridor	HP:0010307
91179	SCARF2	Choanal stenosis	HP:0000452
91179	SCARF2	Blepharophimosis	HP:0000581
91179	SCARF2	Hypoplasia of the maxilla	HP:0000327
91179	SCARF2	Autosomal recessive inheritance	HP:0000007
91179	SCARF2	Sclerocornea	HP:0000647
91179	SCARF2	Dislocated radial head	HP:0003083
91179	SCARF2	Narrow nose	HP:0000460
91179	SCARF2	Arachnodactyly	HP:0001166
91179	SCARF2	Malar flattening	HP:0000272
91179	SCARF2	High, narrow palate	HP:0002705
91179	SCARF2	Craniosynostosis	HP:0001363
91179	SCARF2	Abnormal eyebrow morphology	HP:0000534
91179	SCARF2	Ulnar bowing	HP:0003031
91179	SCARF2	High palate	HP:0000218
91179	SCARF2	Protruding ear	HP:0000411
91179	SCARF2	Slender long bone	HP:0003100
91179	SCARF2	Slender metacarpals	HP:0006236
91179	SCARF2	Hallux valgus	HP:0001822
91179	SCARF2	Depressed nasal bridge	HP:0005280
91179	SCARF2	Talipes equinovarus	HP:0001762
91179	SCARF2	Femoral bowing	HP:0002980
91179	SCARF2	Dental crowding	HP:0000678
91179	SCARF2	Everted lower lip vermilion	HP:0000232
91179	SCARF2	Glenoid fossa hypoplasia	HP:0006633
91179	SCARF2	Distal ulnar hypoplasia	HP:0005033
91179	SCARF2	Elbow flexion contracture	HP:0002987
91179	SCARF2	Single umbilical artery	HP:0001195
91179	SCARF2	Camptodactyly of toe	HP:0001836
91179	SCARF2	Knee flexion contracture	HP:0006380
91179	SCARF2	Underdeveloped nasal alae	HP:0000430
91179	SCARF2	Cleft palate	HP:0000175
91179	SCARF2	Thin ribs	HP:0000883
91179	SCARF2	Long hallux	HP:0001847
91179	SCARF2	Narrow foot	HP:0001786
91179	SCARF2	Long metacarpals	HP:0010493
91179	SCARF2	Pectus excavatum	HP:0000767
91179	SCARF2	Lateral clavicle hook	HP:0000895
1071	CETP	Hypercholesterolemia	HP:0003124
1071	CETP	Hyperlipidemia	HP:0003077
1071	CETP	Increased HDL cholesterol concentration	HP:0012184
1071	CETP	Hypotriglyceridemia	HP:0012153
1073	CFL2	Myofibrillar myopathy	HP:0003715
1073	CFL2	Areflexia	HP:0001284
1073	CFL2	Narrow chest	HP:0000774
1073	CFL2	Autosomal recessive inheritance	HP:0000007
1073	CFL2	Gait disturbance	HP:0001288
1073	CFL2	Neck flexor weakness	HP:0003722
1073	CFL2	Generalized hypotonia	HP:0001290
1073	CFL2	Hip dislocation	HP:0002827
1073	CFL2	Delayed gross motor development	HP:0002194
1073	CFL2	Narrow face	HP:0000275
1073	CFL2	Polyhydramnios	HP:0001561
1073	CFL2	Genu varum	HP:0002970
1073	CFL2	Elevated serum creatine kinase	HP:0003236
1073	CFL2	Neonatal hypotonia	HP:0001319
1073	CFL2	Genu valgum	HP:0002857
1073	CFL2	Muscle weakness	HP:0001324
1073	CFL2	Respiratory insufficiency	HP:0002093
1073	CFL2	Respiratory insufficiency due to muscle weakness	HP:0002747
1073	CFL2	Nocturnal hypoventilation	HP:0002877
1073	CFL2	Gowers sign	HP:0003391
1073	CFL2	Feeding difficulties	HP:0011968
1073	CFL2	Foot dorsiflexor weakness	HP:0009027
1073	CFL2	Facial diplegia	HP:0001349
1073	CFL2	Hypokinesia	HP:0002375
1073	CFL2	Minicore myopathy	HP:0003789
1073	CFL2	Waddling gait	HP:0002515
1073	CFL2	Neck muscle weakness	HP:0000467
1073	CFL2	Short neck	HP:0000470
1073	CFL2	Nemaline bodies	HP:0003798
1073	CFL2	Scoliosis	HP:0002650
1073	CFL2	High palate	HP:0000218
1073	CFL2	Micrognathia	HP:0000347
1073	CFL2	Type 1 muscle fiber predominance	HP:0003803
1073	CFL2	Slow progression	HP:0003677
1073	CFL2	Muscular hypotonia	HP:0001252
1073	CFL2	Increased variability in muscle fiber diameter	HP:0003557
1073	CFL2	Joint hypermobility	HP:0001382
1073	CFL2	Spinal rigidity	HP:0003306
1073	CFL2	Hyperlordosis	HP:0003307
1073	CFL2	Hyporeflexia	HP:0001265
1073	CFL2	Fatigable weakness of respiratory muscles	HP:0030196
1073	CFL2	Arthrogryposis multiplex congenita	HP:0002804
1073	CFL2	Fatigable weakness of distal limb muscles	HP:0030198
1073	CFL2	Kyphosis	HP:0002808
1073	CFL2	Fatiguable weakness of proximal limb muscles	HP:0030200
1073	CFL2	Ptosis	HP:0000508
1073	CFL2	Limb-girdle muscle weakness	HP:0003325
1073	CFL2	Myopathy	HP:0003198
1073	CFL2	Axial muscle weakness	HP:0003327
1073	CFL2	Pectus excavatum	HP:0000767
1075	CTSC	Autosomal recessive inheritance	HP:0000007
1075	CTSC	Reduced number of teeth	HP:0009804
1075	CTSC	Palmoplantar hyperkeratosis	HP:0000972
1075	CTSC	Onychogryposis	HP:0001805
1075	CTSC	Arachnodactyly	HP:0001166
1075	CTSC	Abnormal fingernail morphology	HP:0001231
1075	CTSC	Premature loss of teeth	HP:0006480
1075	CTSC	Tapering pointed ends of distal finger phalanges	HP:0006224
1075	CTSC	Heterogeneous	HP:0001425
1075	CTSC	Cerebral calcification	HP:0002514
1075	CTSC	Nail dystrophy	HP:0008404
1075	CTSC	Palmoplantar keratoderma	HP:0000982
1075	CTSC	Hypopigmented skin patches	HP:0001053
1075	CTSC	Recurrent respiratory infections	HP:0002205
1075	CTSC	Recurrent bacterial skin infections	HP:0005406
1075	CTSC	Gingival recession	HP:0030816
1075	CTSC	Pes planus	HP:0001763
1075	CTSC	Pustule	HP:0200039
1075	CTSC	Atrophy of alveolar ridges	HP:0006308
1075	CTSC	Severe periodontitis	HP:0000166
1075	CTSC	Gingivitis	HP:0000230
1075	CTSC	Hypertrichosis	HP:0000998
1075	CTSC	Recurrent cutaneous abscess formation	HP:0100838
1075	CTSC	Liver abscess	HP:0100523
1075	CTSC	Osteolytic defects of the phalanges of the hand	HP:0009771
1075	CTSC	Squamous cell carcinoma	HP:0002860
1075	CTSC	Melanoma	HP:0002861
1075	CTSC	Osteolysis	HP:0002797
1075	CTSC	Choroid plexus calcification	HP:0006960
1075	CTSC	Cigarette-paper scars	HP:0001073
1075	CTSC	Premature loss of primary teeth	HP:0006323
1075	CTSC	Generalized hirsutism	HP:0002230
1075	CTSC	Abnormality of the skin	HP:0000951
1075	CTSC	Sparse body hair	HP:0002231
1075	CTSC	Congenital palmoplantar keratosis	HP:0007545
1075	CTSC	Chronic furunculosis	HP:0011132
1080	CFTR	Hepatomegaly	HP:0002240
1080	CFTR	Chronic lung disease	HP:0006528
1080	CFTR	Recurrent pneumonia	HP:0006532
1080	CFTR	Increased circulating gonadotropin level	HP:0000837
1080	CFTR	Autosomal recessive inheritance	HP:0000007
1080	CFTR	Absent vas deferens	HP:0012873
1080	CFTR	Exocrine pancreatic insufficiency	HP:0001738
1080	CFTR	Recurrent bronchopulmonary infections	HP:0006538
1080	CFTR	Elevated sweat chloride	HP:0012236
1080	CFTR	Heterogeneous	HP:0001425
1080	CFTR	Dehydration	HP:0001944
1080	CFTR	Decreased antibody level in blood	HP:0004313
1080	CFTR	Azoospermia	HP:0000027
1080	CFTR	Elevated C-reactive protein level	HP:0011227
1080	CFTR	Abnormal enzyme/coenzyme activity	HP:0012379
1080	CFTR	Recurrent respiratory infections	HP:0002205
1080	CFTR	Pancreatic calcification	HP:0005213
1080	CFTR	Oligospermia	HP:0000798
1080	CFTR	Pulmonary fibrosis	HP:0002206
1080	CFTR	Decreased testicular size	HP:0008734
1080	CFTR	Immunodeficiency	HP:0002721
1080	CFTR	Failure to thrive	HP:0001508
1080	CFTR	Hypercalciuria	HP:0002150
1080	CFTR	Splanchnic vein thrombosis	HP:0030247
1080	CFTR	Malabsorption	HP:0002024
1080	CFTR	Abdominal pain	HP:0002027
1080	CFTR	Cor pulmonale	HP:0001648
1080	CFTR	Meconium ileus	HP:0004401
1080	CFTR	Abnormal renal morphology	HP:0012210
1080	CFTR	Male infertility	HP:0003251
1080	CFTR	Rectal prolapse	HP:0002035
1080	CFTR	Asthma	HP:0002099
1080	CFTR	Diabetes mellitus	HP:0000819
1080	CFTR	Biliary cirrhosis	HP:0002613
1080	CFTR	Leukocytosis	HP:0001974
1080	CFTR	Jaundice	HP:0000952
1080	CFTR	Non-obstructive azoospermia	HP:0011961
1080	CFTR	Obstructive azoospermia	HP:0011962
1080	CFTR	Recurrent pancreatitis	HP:0100027
1080	CFTR	Bronchiectasis	HP:0002110
9276	COPB2	Delayed myelination	HP:0012448
9276	COPB2	Cerebral visual impairment	HP:0100704
9276	COPB2	Short stature	HP:0004322
9276	COPB2	Hyperreflexia	HP:0001347
9276	COPB2	Hypoplasia of the frontal lobes	HP:0007333
9276	COPB2	Upslanted palpebral fissure	HP:0000582
9276	COPB2	Ventriculomegaly	HP:0002119
9276	COPB2	Autosomal recessive inheritance	HP:0000007
9276	COPB2	Spasticity	HP:0001257
9276	COPB2	Gray matter heterotopia	HP:0002282
9276	COPB2	Vesicoureteral reflux	HP:0000076
9276	COPB2	Global developmental delay	HP:0001263
9276	COPB2	Intellectual disability, severe	HP:0010864
9276	COPB2	Sloping forehead	HP:0000340
9276	COPB2	Pachygyria	HP:0001302
9276	COPB2	Simplified gyral pattern	HP:0009879
9276	COPB2	Unilateral renal agenesis	HP:0000122
9276	COPB2	Agenesis of corpus callosum	HP:0001274
9276	COPB2	Failure to thrive in infancy	HP:0001531
9276	COPB2	Thin upper lip vermilion	HP:0000219
9276	COPB2	Progressive	HP:0003676
9276	COPB2	Microcephaly	HP:0000252
9276	COPB2	Hypoplasia of the corpus callosum	HP:0002079
9276	COPB2	Abnormal cortical bone morphology	HP:0003103
132158	GLYCTK	Nonketotic hyperglycinemia	HP:0008288
132158	GLYCTK	Delayed myelination	HP:0012448
132158	GLYCTK	Intellectual disability	HP:0001249
132158	GLYCTK	Seizures	HP:0001250
132158	GLYCTK	Hyperreflexia	HP:0001347
132158	GLYCTK	Opisthotonus	HP:0002179
132158	GLYCTK	Failure to thrive	HP:0001508
132158	GLYCTK	Growth delay	HP:0001510
132158	GLYCTK	Neonatal hypotonia	HP:0001319
132158	GLYCTK	Autosomal recessive inheritance	HP:0000007
132158	GLYCTK	Muscular hypotonia of the trunk	HP:0008936
132158	GLYCTK	Cerebral cortical atrophy	HP:0002120
132158	GLYCTK	Spastic tetraplegia	HP:0002510
132158	GLYCTK	Global developmental delay	HP:0001263
132158	GLYCTK	Encephalopathy	HP:0001298
132158	GLYCTK	Metabolic acidosis	HP:0001942
132158	GLYCTK	Sensorineural hearing impairment	HP:0000407
132158	GLYCTK	Myoclonus	HP:0001336
132158	GLYCTK	Hypsarrhythmia	HP:0002521
132158	GLYCTK	Aminoaciduria	HP:0003355
132158	GLYCTK	Microcephaly	HP:0000252
9289	ADGRG1	Intellectual disability	HP:0001249
9289	ADGRG1	Exotropia	HP:0000577
9289	ADGRG1	Seizures	HP:0001250
9289	ADGRG1	Cerebral dysmyelination	HP:0007266
9289	ADGRG1	Hyperreflexia	HP:0001347
9289	ADGRG1	Frontal polymicrogyria	HP:0006821
9289	ADGRG1	Ventriculomegaly	HP:0002119
9289	ADGRG1	Autosomal recessive inheritance	HP:0000007
9289	ADGRG1	Cerebellar hypoplasia	HP:0001321
9289	ADGRG1	Perisylvian polymicrogyria	HP:0012650
9289	ADGRG1	Hypoplasia of the pons	HP:0012110
9289	ADGRG1	Global developmental delay	HP:0001263
9289	ADGRG1	Esotropia	HP:0000565
9289	ADGRG1	Frontoparietal polymicrogyria	HP:0007095
9289	ADGRG1	Broad-based gait	HP:0002136
9289	ADGRG1	Ankle clonus	HP:0011448
9289	ADGRG1	Hypertonia	HP:0001276
9289	ADGRG1	Hypoplasia of the brainstem	HP:0002365
9289	ADGRG1	Dysmetria	HP:0001310
9289	ADGRG1	Truncal ataxia	HP:0002078
9289	ADGRG1	Nystagmus	HP:0000639
9289	ADGRG1	Babinski sign	HP:0003487
9289	ADGRG1	Language impairment	HP:0002463
9294	S1PR2	Autosomal recessive inheritance	HP:0000007
9294	S1PR2	Sensorineural hearing impairment	HP:0000407
9294	S1PR2	Infantile onset	HP:0003593
1103	CHAT	Pectus carinatum	HP:0000768
1103	CHAT	Narrow jaw	HP:0012801
1103	CHAT	EMG: myopathic abnormalities	HP:0003458
1103	CHAT	Bulbar palsy	HP:0001283
1103	CHAT	Areflexia	HP:0001284
1103	CHAT	Central hypotonia	HP:0011398
1103	CHAT	Autosomal recessive inheritance	HP:0000007
1103	CHAT	Motor polyneuropathy	HP:0007178
1103	CHAT	Diplopia	HP:0000651
1103	CHAT	Fatigable weakness	HP:0003473
1103	CHAT	Heterogeneous	HP:0001425
1103	CHAT	Toe walking	HP:0040083
1103	CHAT	Long face	HP:0000276
1103	CHAT	Episodic respiratory distress	HP:0004885
1103	CHAT	Decreased fetal movement	HP:0001558
1103	CHAT	Sensorineural hearing impairment	HP:0000407
1103	CHAT	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
1103	CHAT	Polyhydramnios	HP:0001561
1103	CHAT	Abnormality of the immune system	HP:0002715
1103	CHAT	Recurrent respiratory infections	HP:0002205
1103	CHAT	Central sleep apnea	HP:0010536
1103	CHAT	Respiratory distress	HP:0002098
1103	CHAT	Difficulty walking	HP:0002355
1103	CHAT	Microretrognathia	HP:0000308
1103	CHAT	Esotropia	HP:0000565
1103	CHAT	Frontalis muscle weakness	HP:0004661
1103	CHAT	Obstructive sleep apnea	HP:0002870
1103	CHAT	Respiratory arrest	HP:0005943
1103	CHAT	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
1103	CHAT	Staring gaze	HP:0025401
1103	CHAT	Respiratory insufficiency due to muscle weakness	HP:0002747
1103	CHAT	Easy fatigability	HP:0003388
1103	CHAT	EMG: impaired neuromuscular transmission	HP:0100285
1103	CHAT	Kyphoscoliosis	HP:0002751
1103	CHAT	Cyanosis	HP:0000961
1103	CHAT	Sudden episodic apnea	HP:0002882
1103	CHAT	Stridor	HP:0010307
1103	CHAT	Generalized hypotonia due to defect at the neuromuscular junction	HP:0003397
1103	CHAT	Muscle fiber atrophy	HP:0100295
1103	CHAT	Decreased miniature endplate potentials	HP:0003402
1103	CHAT	Nasal speech	HP:0001611
1103	CHAT	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
1103	CHAT	Weak cry	HP:0001612
1103	CHAT	Nasal regurgitation	HP:0011469
1103	CHAT	Dysphonia	HP:0001618
1103	CHAT	Neck muscle weakness	HP:0000467
1103	CHAT	Waddling gait	HP:0002515
1103	CHAT	Ophthalmoparesis	HP:0000597
1103	CHAT	EEG with polyspike wave complexes	HP:0002392
1103	CHAT	High palate	HP:0000218
1103	CHAT	Ophthalmoplegia	HP:0000602
1103	CHAT	Distal lower limb muscle weakness	HP:0009053
1103	CHAT	Congenital hip dislocation	HP:0001374
1103	CHAT	Dysphagia	HP:0002015
1103	CHAT	Pes cavus	HP:0001761
1103	CHAT	Intellectual disability	HP:0001249
1103	CHAT	Seizures	HP:0001250
1103	CHAT	Type 2 muscle fiber atrophy	HP:0003554
1103	CHAT	Ataxia	HP:0001251
1103	CHAT	Gastroesophageal reflux	HP:0002020
1103	CHAT	Strabismus	HP:0000486
1103	CHAT	Spinal rigidity	HP:0003306
1103	CHAT	Joint laxity	HP:0001388
1103	CHAT	Distal amyotrophy	HP:0003693
1103	CHAT	Low-set ears	HP:0000369
1103	CHAT	Poor suck	HP:0002033
1103	CHAT	Hyporeflexia	HP:0001265
1103	CHAT	Arthrogryposis multiplex congenita	HP:0002804
1103	CHAT	Proximal muscle weakness	HP:0003701
1103	CHAT	Poor head control	HP:0002421
1103	CHAT	Motor delay	HP:0001270
1103	CHAT	Congenital onset	HP:0003577
1103	CHAT	Choking episodes	HP:0030842
1103	CHAT	Spinal deformities	HP:0008443
1103	CHAT	Generalized muscle weakness	HP:0003324
1103	CHAT	Ptosis	HP:0000508
1103	CHAT	Limb-girdle muscle weakness	HP:0003325
1103	CHAT	Nystagmus	HP:0000639
1105	CHD1	Macrocephaly	HP:0000256
1105	CHD1	Immunodeficiency	HP:0002721
1105	CHD1	Postnatal growth retardation	HP:0008897
1105	CHD1	Intellectual disability	HP:0001249
1105	CHD1	Almond-shaped palpebral fissure	HP:0007874
1105	CHD1	Seizures	HP:0001250
1105	CHD1	Allergy	HP:0012393
1105	CHD1	Infantile onset	HP:0003593
1105	CHD1	Generalized hypotonia	HP:0001290
1105	CHD1	Downslanted palpebral fissures	HP:0000494
1105	CHD1	Global developmental delay	HP:0001263
1105	CHD1	Pointed chin	HP:0000307
1105	CHD1	Periorbital fullness	HP:0000629
1105	CHD1	Frontal bossing	HP:0002007
1105	CHD1	Midface retrusion	HP:0011800
1105	CHD1	Dermal translucency	HP:0010648
1105	CHD1	Autistic behavior	HP:0000729
1105	CHD1	Speech apraxia	HP:0011098
1105	CHD1	Abnormal fingertip morphology	HP:0001211
1105	CHD1	Stereotypy	HP:0000733
1105	CHD1	Broad eyebrow	HP:0011229
1105	CHD1	Thick eyebrow	HP:0000574
1106	CHD2	Generalized tonic seizures	HP:0010818
1106	CHD2	Atonic seizures	HP:0010819
1106	CHD2	EEG with abnormally slow frequencies	HP:0011203
1106	CHD2	Febrile seizures	HP:0002373
1106	CHD2	Epileptic encephalopathy	HP:0200134
1106	CHD2	Autosomal dominant inheritance	HP:0000006
1106	CHD2	Developmental regression	HP:0002376
1106	CHD2	Absence seizure	HP:0002121
1106	CHD2	Generalized myoclonic seizures	HP:0002123
1106	CHD2	Aggressive behavior	HP:0000718
1106	CHD2	Encephalopathy	HP:0001298
1106	CHD2	Generalized tonic-clonic seizures	HP:0002069
1106	CHD2	Status epilepticus	HP:0002133
1106	CHD2	Autistic behavior	HP:0000729
1106	CHD2	Falls	HP:0002527
1106	CHD2	Cutaneous photosensitivity	HP:0000992
1106	CHD2	Intellectual disability	HP:0001249
1106	CHD2	EEG with spike-wave complexes (>3.5 Hz)	HP:0010849
1106	CHD2	Myoclonic atonic seizures	HP:0011170
1106	CHD2	Ataxia	HP:0001251
1106	CHD2	Atypical absence seizure	HP:0007270
1106	CHD2	Impulsivity	HP:0100710
1106	CHD2	Photosensitive tonic-clonic seizures	HP:0007207
1106	CHD2	Personality disorder	HP:0012075
1106	CHD2	Dysarthria	HP:0001260
1106	CHD2	Global developmental delay	HP:0001263
1106	CHD2	Hyperactivity	HP:0000752
1106	CHD2	EEG abnormality	HP:0002353
1106	CHD2	Abnormal brain FDG positron emission tomography	HP:0012658
1106	CHD2	Mental deterioration	HP:0001268
1106	CHD2	Myoclonus	HP:0001336
1106	CHD2	Abnormality of brainstem morphology	HP:0002363
1106	CHD2	EEG with focal sharp slow waves	HP:0011195
1106	CHD2	Focal-onset seizure	HP:0007359
1107	CHD3	Delayed ability to walk	HP:0031936
1107	CHD3	Prominent nose	HP:0000448
1107	CHD3	Cerebral visual impairment	HP:0100704
1107	CHD3	Astigmatism	HP:0000483
1107	CHD3	Strabismus	HP:0000486
1107	CHD3	Ventriculomegaly	HP:0002119
1107	CHD3	Infantile onset	HP:0003593
1107	CHD3	Dysarthria	HP:0001260
1107	CHD3	Unsteady gait	HP:0002317
1107	CHD3	Delayed speech and language development	HP:0000750
1107	CHD3	Wide nasal bridge	HP:0000431
1107	CHD3	Global developmental delay	HP:0001263
1107	CHD3	Prominent forehead	HP:0011220
1107	CHD3	Stuttering	HP:0025268
1107	CHD3	Frontal bossing	HP:0002007
1107	CHD3	Midface retrusion	HP:0011800
1107	CHD3	Broad-based gait	HP:0002136
1107	CHD3	Speech apraxia	HP:0011098
1107	CHD3	Hypermetropia	HP:0000540
1107	CHD3	Hypertelorism	HP:0000316
1107	CHD3	Stereotypy	HP:0000733
1107	CHD3	Epicanthus	HP:0000286
1108	CHD4	Macrocephaly	HP:0000256
1108	CHD4	Short femoral neck	HP:0100864
1108	CHD4	Arnold-Chiari malformation	HP:0002308
1108	CHD4	Upslanted palpebral fissure	HP:0000582
1108	CHD4	Autosomal dominant inheritance	HP:0000006
1108	CHD4	Ventriculomegaly	HP:0002119
1108	CHD4	Short palpebral fissure	HP:0012745
1108	CHD4	Anteriorly placed anus	HP:0001545
1108	CHD4	Generalized hypotonia	HP:0001290
1108	CHD4	Vesicoureteral reflux	HP:0000076
1108	CHD4	Coarctation of aorta	HP:0001680
1108	CHD4	Renal insufficiency	HP:0000083
1108	CHD4	Wormian bones	HP:0002645
1108	CHD4	Coarse facial features	HP:0000280
1108	CHD4	Cryptorchidism	HP:0000028
1108	CHD4	Ventricular septal defect	HP:0001629
1108	CHD4	Gait imbalance	HP:0002141
1108	CHD4	Epicanthus	HP:0000286
1108	CHD4	Tapered finger	HP:0001182
1108	CHD4	Atrial septal defect	HP:0001631
1108	CHD4	Intellectual disability	HP:0001249
1108	CHD4	Short stature	HP:0004322
1108	CHD4	Astigmatism	HP:0000483
1108	CHD4	Tetralogy of Fallot	HP:0001636
1108	CHD4	Flat acetabular roof	HP:0003180
1108	CHD4	Hearing impairment	HP:0000365
1108	CHD4	Low-set ears	HP:0000369
1108	CHD4	Trigonocephaly	HP:0000243
1108	CHD4	Micropenis	HP:0000054
1108	CHD4	Cupped ear	HP:0000378
1108	CHD4	Hypertelorism	HP:0000316
1108	CHD4	Ptosis	HP:0000508
1108	CHD4	Short clavicles	HP:0000894
1108	CHD4	Ambiguous genitalia	HP:0000062
1120	CHKB	Ichthyosis	HP:0008064
1120	CHKB	Poor speech	HP:0002465
1120	CHKB	Intellectual disability	HP:0001249
1120	CHKB	Seizures	HP:0001250
1120	CHKB	Facial palsy	HP:0010628
1120	CHKB	Elevated serum creatine kinase	HP:0003236
1120	CHKB	Autosomal recessive inheritance	HP:0000007
1120	CHKB	Neonatal hypotonia	HP:0001319
1120	CHKB	Muscular dystrophy	HP:0003560
1120	CHKB	Dilated cardiomyopathy	HP:0001644
1120	CHKB	Delayed speech and language development	HP:0000750
1120	CHKB	Mitochondrial inheritance	HP:0001427
1120	CHKB	Waddling gait	HP:0002515
1120	CHKB	Motor delay	HP:0001270
1120	CHKB	Congenital onset	HP:0003577
1120	CHKB	Microcephaly	HP:0000252
1120	CHKB	Congenital muscular dystrophy	HP:0003741
1120	CHKB	Slow progression	HP:0003677
1120	CHKB	Myopathy	HP:0003198
1120	CHKB	Gowers sign	HP:0003391
1121	CHM	Abnormal electroretinogram	HP:0000512
1121	CHM	Progressive visual loss	HP:0000529
1121	CHM	Myopia	HP:0000545
1121	CHM	Chorioretinal degeneration	HP:0200065
1121	CHM	Choroideremia	HP:0001139
1121	CHM	Chorioretinal atrophy	HP:0000533
1121	CHM	Nyctalopia	HP:0000662
1121	CHM	Abnormality of retinal pigmentation	HP:0007703
1121	CHM	X-linked inheritance	HP:0001417
1121	CHM	Constriction of peripheral visual field	HP:0001133
1121	CHM	X-linked dominant inheritance	HP:0001423
9313	MMP20	Amelogenesis imperfecta	HP:0000705
9313	MMP20	Autosomal recessive inheritance	HP:0000007
9313	MMP20	Anterior open bite	HP:0200095
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	Autosomal dominant inheritance	HP:0000006
1123	CHN1	Amblyopia	HP:0000646
1123	CHN1	Absent radius	HP:0003974
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	Triphalangeal thumb	HP:0001199
1123	CHN1	Wide nasal bridge	HP:0000431
1123	CHN1	Cleft palate	HP:0000175
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	Optic disc hypoplasia	HP:0007766
1123	CHN1	Short neck	HP:0000470
1123	CHN1	Oculomotor nerve palsy	HP:0012246
1123	CHN1	Ectopic kidney	HP:0000086
1123	CHN1	Abnormality of cardiovascular system morphology	HP:0030680
1123	CHN1	Micrognathia	HP:0000347
1123	CHN1	Camptodactyly	HP:0012385
1123	CHN1	Seizures	HP:0001250
1123	CHN1	Spina bifida occulta	HP:0003298
1123	CHN1	Microcornea	HP:0000482
1123	CHN1	Talipes equinovarus	HP:0001762
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	Irregular hyperpigmentation	HP:0007400
1123	CHN1	Everted lower lip vermilion	HP:0000232
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	External ear malformation	HP:0008572
1123	CHN1	Ptosis	HP:0000508
1123	CHN1	Nystagmus	HP:0000639
9319	TRIP13	Increased nuchal translucency	HP:0010880
9319	TRIP13	Multicystic kidney dysplasia	HP:0000003
9319	TRIP13	Ascites	HP:0001541
9319	TRIP13	Cataract	HP:0000518
9319	TRIP13	Multiple cafe-au-lait spots	HP:0007565
9319	TRIP13	Aniridia	HP:0000526
9319	TRIP13	Coarctation of aorta	HP:0001680
9319	TRIP13	Subvalvular aortic stenosis	HP:0001682
9319	TRIP13	Corneal opacity	HP:0007957
9319	TRIP13	Hematuria	HP:0000790
9319	TRIP13	Dandy-Walker malformation	HP:0001305
9319	TRIP13	Polyhydramnios	HP:0001561
9319	TRIP13	Fever	HP:0001945
9319	TRIP13	Lymphadenopathy	HP:0002716
9319	TRIP13	Epicanthus	HP:0000286
9319	TRIP13	Weight loss	HP:0001824
9319	TRIP13	Rhabdomyosarcoma	HP:0002859
9319	TRIP13	Vaginal neoplasm	HP:0100650
9319	TRIP13	Myelodysplasia	HP:0002863
9319	TRIP13	Cleft palate	HP:0000175
9319	TRIP13	Neoplasm of the lung	HP:0100526
9319	TRIP13	Abnormal lung lobation	HP:0002101
9319	TRIP13	Hypothyroidism	HP:0000821
9319	TRIP13	Hypertension	HP:0000822
9319	TRIP13	Microphthalmia	HP:0000568
9319	TRIP13	Apnea	HP:0002104
9319	TRIP13	Colon cancer	HP:0003003
9319	TRIP13	Wide nose	HP:0000445
9319	TRIP13	Ambiguous genitalia	HP:0000062
9319	TRIP13	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9319	TRIP13	Acute lymphoblastic leukemia	HP:0006721
9319	TRIP13	Triangular face	HP:0000325
9319	TRIP13	Duodenal atresia	HP:0002247
9319	TRIP13	Depressed nasal ridge	HP:0000457
9319	TRIP13	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
9319	TRIP13	Intestinal polyposis	HP:0200008
9319	TRIP13	Holoprosencephaly	HP:0001360
9319	TRIP13	Neoplasm of the liver	HP:0002896
9319	TRIP13	Sloping forehead	HP:0000340
9319	TRIP13	Frontal bossing	HP:0002007
9319	TRIP13	Premature chromatid separation	HP:0200024
9319	TRIP13	Micrognathia	HP:0000347
9319	TRIP13	High forehead	HP:0000348
9319	TRIP13	Stomach cancer	HP:0012126
9319	TRIP13	Atrial septal defect	HP:0001631
9319	TRIP13	Intellectual disability	HP:0001249
9319	TRIP13	Seizures	HP:0001250
9319	TRIP13	Short stature	HP:0004322
9319	TRIP13	Abnormality of immune system physiology	HP:0010978
9319	TRIP13	Muscular hypotonia	HP:0001252
9319	TRIP13	Intrauterine growth retardation	HP:0001511
9319	TRIP13	Muscular dystrophy	HP:0003560
9319	TRIP13	Abnormality of skin pigmentation	HP:0001000
9319	TRIP13	Nephroblastoma	HP:0002667
9319	TRIP13	Abdominal pain	HP:0002027
9319	TRIP13	Hearing impairment	HP:0000365
9319	TRIP13	Osteolysis	HP:0002797
9319	TRIP13	Downslanted palpebral fissures	HP:0000494
9319	TRIP13	Global developmental delay	HP:0001263
9319	TRIP13	Low-set, posteriorly rotated ears	HP:0000368
9319	TRIP13	Clinodactyly of the 5th finger	HP:0004209
9319	TRIP13	Glaucoma	HP:0000501
9319	TRIP13	Abnormality of vision	HP:0000504
9319	TRIP13	Aortic regurgitation	HP:0001659
9319	TRIP13	Microcephaly	HP:0000252
9320	TRIP12	Depressed nasal bridge	HP:0005280
9320	TRIP12	Intellectual disability	HP:0001249
9320	TRIP12	Narrow palpebral fissure	HP:0045025
9320	TRIP12	Seizures	HP:0001250
9320	TRIP12	Strabismus	HP:0000486
9320	TRIP12	Upslanted palpebral fissure	HP:0000582
9320	TRIP12	Autosomal dominant inheritance	HP:0000006
9320	TRIP12	Delayed speech and language development	HP:0000750
9320	TRIP12	Aggressive behavior	HP:0000718
9320	TRIP12	Abnormal facial shape	HP:0001999
9320	TRIP12	Global developmental delay	HP:0001263
9320	TRIP12	Hyperactivity	HP:0000752
9320	TRIP12	Long philtrum	HP:0000343
9320	TRIP12	Wide mouth	HP:0000154
9320	TRIP12	High palate	HP:0000218
9320	TRIP12	Downturned corners of mouth	HP:0002714
9320	TRIP12	Short nose	HP:0003196
9320	TRIP12	Hypertelorism	HP:0000316
9320	TRIP12	Epicanthus	HP:0000286
9321	TRIP11	Macrocephaly	HP:0000256
9321	TRIP11	Pectus carinatum	HP:0000768
9321	TRIP11	Genu recurvatum	HP:0002816
9321	TRIP11	Umbilical hernia	HP:0001537
9321	TRIP11	Protuberant abdomen	HP:0001538
9321	TRIP11	Brachydactyly	HP:0001156
9321	TRIP11	Short ribs	HP:0000773
9321	TRIP11	Narrow chest	HP:0000774
9321	TRIP11	Autosomal dominant inheritance	HP:0000006
9321	TRIP11	Autosomal recessive inheritance	HP:0000007
9321	TRIP11	Abnormal enchondral ossification	HP:0003336
9321	TRIP11	Mesomelic short stature	HP:0008845
9321	TRIP11	Barrel-shaped chest	HP:0001552
9321	TRIP11	Biconvex vertebral bodies	HP:0004625
9321	TRIP11	Narrow face	HP:0000275
9321	TRIP11	Broad clavicles	HP:0000916
9321	TRIP11	Polyhydramnios	HP:0001561
9321	TRIP11	Genu varum	HP:0002970
9321	TRIP11	Beaded ribs	HP:0000923
9321	TRIP11	Recurrent respiratory infections	HP:0002205
9321	TRIP11	Platyspondyly	HP:0000926
9321	TRIP11	Depressed nasal bridge	HP:0005280
9321	TRIP11	Abnormal hand bone ossification	HP:0010660
9321	TRIP11	Micromelia	HP:0002983
9321	TRIP11	Hypoplasia of the radius	HP:0002984
9321	TRIP11	Pulmonary hypoplasia	HP:0002089
9321	TRIP11	Osteoporosis	HP:0000939
9321	TRIP11	Delayed eruption of teeth	HP:0000684
9321	TRIP11	Aplasia/Hypoplasia of the lungs	HP:0006703
9321	TRIP11	Respiratory distress	HP:0002098
9321	TRIP11	Abnormal foot bone ossification	HP:0010675
9321	TRIP11	Flared iliac wings	HP:0002869
9321	TRIP11	Severe short stature	HP:0003510
9321	TRIP11	Short palm	HP:0004279
9321	TRIP11	Femoral hernia	HP:0100541
9321	TRIP11	Dentinogenesis imperfecta	HP:0000703
9321	TRIP11	Delayed ossification of carpal bones	HP:0001216
9321	TRIP11	Disproportionate short-trunk short stature	HP:0003521
9321	TRIP11	Short metacarpal	HP:0010049
9321	TRIP11	Short thorax	HP:0010306
9321	TRIP11	Recurrent fractures	HP:0002757
9321	TRIP11	Abdominal distention	HP:0003270
9321	TRIP11	Metaphyseal widening	HP:0003016
9321	TRIP11	Short phalanx of finger	HP:0009803
9321	TRIP11	Metaphyseal cupping	HP:0003021
9321	TRIP11	Anteverted nares	HP:0000463
9321	TRIP11	Flat face	HP:0012368
9321	TRIP11	Short long bone	HP:0003026
9321	TRIP11	Mesomelia	HP:0003027
9321	TRIP11	Lethal skeletal dysplasia	HP:0005716
9321	TRIP11	Prominent forehead	HP:0011220
9321	TRIP11	Short neck	HP:0000470
9321	TRIP11	Irregular epiphyses	HP:0010582
9321	TRIP11	Frontal bossing	HP:0002007
9321	TRIP11	Long philtrum	HP:0000343
9321	TRIP11	Abnormality of cardiovascular system morphology	HP:0030680
9321	TRIP11	Abnormality of the femoral metaphysis	HP:0006489
9321	TRIP11	Small epiphyses	HP:0010585
9321	TRIP11	Coronal cleft vertebrae	HP:0003417
9321	TRIP11	Thickened nuchal skin fold	HP:0000474
9321	TRIP11	Nephronophthisis	HP:0000090
9321	TRIP11	Scoliosis	HP:0002650
9321	TRIP11	Micrognathia	HP:0000347
9321	TRIP11	Cystic hygroma	HP:0000476
9321	TRIP11	Spondylometaphyseal dysplasia	HP:0002657
9321	TRIP11	Joint hypermobility	HP:0001382
9321	TRIP11	Hypoplastic ischia	HP:0003175
9321	TRIP11	Decreased skull ossification	HP:0004331
9321	TRIP11	Flat acetabular roof	HP:0003180
9321	TRIP11	Short foot	HP:0001773
9321	TRIP11	Multiple rib fractures	HP:0006640
9321	TRIP11	Hypoplastic scapulae	HP:0000882
9321	TRIP11	Stillbirth	HP:0003826
9321	TRIP11	Death in infancy	HP:0001522
9321	TRIP11	Motor delay	HP:0001270
9321	TRIP11	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
9321	TRIP11	Short nose	HP:0003196
9321	TRIP11	Hydrops fetalis	HP:0001789
9321	TRIP11	Short clavicles	HP:0000894
9321	TRIP11	Unossified vertebral bodies	HP:0004606
1130	LYST	Neurodegeneration	HP:0002180
1130	LYST	Areflexia	HP:0001284
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	Macular hypoplasia	HP:0001104
1130	LYST	Splenomegaly	HP:0001744
1130	LYST	Thrombocytopenia	HP:0001873
1130	LYST	Bruising susceptibility	HP:0000978
1130	LYST	Ocular albinism	HP:0001107
1130	LYST	Neutropenia	HP:0001875
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	Hypopigmentation of hair	HP:0005599
1130	LYST	Atrial septal defect	HP:0001631
1130	LYST	Intellectual disability	HP:0001249
1130	LYST	Gingival bleeding	HP:0000225
1130	LYST	Seizures	HP:0001250
1130	LYST	Ataxia	HP:0001251
1130	LYST	Melanocytic nevus	HP:0000995
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	Skin ulcer	HP:0200042
1130	LYST	Lymphoma	HP:0002665
1130	LYST	Anemia	HP:0001903
1130	LYST	Reduced visual acuity	HP:0007663
1130	LYST	Global developmental delay	HP:0001263
1130	LYST	Hyporeflexia	HP:0001265
1130	LYST	Abnormality of multiple cell lineages in the bone marrow	HP:0012145
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
1131	CHRM3	Pectus carinatum	HP:0000768
1131	CHRM3	Abnormality of the uterus	HP:0000130
1131	CHRM3	Multicystic kidney dysplasia	HP:0000003
1131	CHRM3	Abnormality of the ribs	HP:0000772
1131	CHRM3	Intestinal malrotation	HP:0002566
1131	CHRM3	Autosomal recessive inheritance	HP:0000007
1131	CHRM3	Hydroureter	HP:0000072
1131	CHRM3	Recurrent urinary tract infections	HP:0000010
1131	CHRM3	Vesicoureteral reflux	HP:0000076
1131	CHRM3	Congenital posterior urethral valve	HP:0010957
1131	CHRM3	Aplasia of the abdominal wall musculature	HP:0005199
1131	CHRM3	Decreased fertility	HP:0000144
1131	CHRM3	Renal insufficiency	HP:0000083
1131	CHRM3	Volvulus	HP:0002580
1131	CHRM3	Xerostomia	HP:0000217
1131	CHRM3	Oligohydramnios	HP:0001562
1131	CHRM3	Scoliosis	HP:0002650
1131	CHRM3	Abnormal heart morphology	HP:0001627
1131	CHRM3	Cryptorchidism	HP:0000028
1131	CHRM3	Intestinal atresia	HP:0011100
1131	CHRM3	Recurrent respiratory infections	HP:0002205
1131	CHRM3	Ventricular septal defect	HP:0001629
1131	CHRM3	Congenital hip dislocation	HP:0001374
1131	CHRM3	Vertebral segmentation defect	HP:0003422
1131	CHRM3	Decreased testicular size	HP:0008734
1131	CHRM3	Atrial septal defect	HP:0001631
1131	CHRM3	Talipes equinovarus	HP:0001762
1131	CHRM3	Constipation	HP:0002019
1131	CHRM3	Tetralogy of Fallot	HP:0001636
1131	CHRM3	Failure to thrive	HP:0001508
1131	CHRM3	Anal atresia	HP:0002023
1131	CHRM3	Prune belly	HP:0004392
1131	CHRM3	Urogenital sinus anomaly	HP:0100779
1131	CHRM3	Patent ductus arteriosus	HP:0001643
1131	CHRM3	Aplasia/Hypoplasia of the lungs	HP:0006703
1131	CHRM3	Abnormality of the skin	HP:0000951
1131	CHRM3	Hydronephrosis	HP:0000126
1131	CHRM3	Cognitive impairment	HP:0100543
1131	CHRM3	Pectus excavatum	HP:0000767
345193	LRIT3	Myopia	HP:0000545
345193	LRIT3	Abnormality of macular pigmentation	HP:0008002
345193	LRIT3	Strabismus	HP:0000486
345193	LRIT3	Optic disc hypoplasia	HP:0007766
345193	LRIT3	Nyctalopia	HP:0000662
345193	LRIT3	Autosomal recessive inheritance	HP:0000007
345193	LRIT3	Congenital stationary night blindness	HP:0007642
345193	LRIT3	High myopia	HP:0011003
345193	LRIT3	Nystagmus	HP:0000639
345193	LRIT3	Reduced visual acuity	HP:0007663
9325	TRIP4	EMG: myopathic abnormalities	HP:0003458
9325	TRIP4	Areflexia	HP:0001284
9325	TRIP4	Autosomal recessive inheritance	HP:0000007
9325	TRIP4	Generalized hypotonia	HP:0001290
9325	TRIP4	Multiple joint contractures	HP:0002828
9325	TRIP4	Pes valgus	HP:0008081
9325	TRIP4	Secundum atrial septal defect	HP:0001684
9325	TRIP4	Peripheral axonal neuropathy	HP:0003477
9325	TRIP4	Diaphragmatic eventration	HP:0009110
9325	TRIP4	Decreased fetal movement	HP:0001558
9325	TRIP4	Abnormal elasticity of skin	HP:0010647
9325	TRIP4	Oligohydramnios	HP:0001562
9325	TRIP4	Cryptorchidism	HP:0000028
9325	TRIP4	Recurrent respiratory infections	HP:0002205
9325	TRIP4	Overweight	HP:0025502
9325	TRIP4	Narrow mouth	HP:0000160
9325	TRIP4	Pulmonary hypoplasia	HP:0002089
9325	TRIP4	Muscle weakness	HP:0001324
9325	TRIP4	Severe muscular hypotonia	HP:0006829
9325	TRIP4	Microretrognathia	HP:0000308
9325	TRIP4	Delayed puberty	HP:0000823
9325	TRIP4	Respiratory insufficiency due to muscle weakness	HP:0002747
9325	TRIP4	Hypertelorism	HP:0000316
9325	TRIP4	Dry skin	HP:0000958
9325	TRIP4	Hypohidrosis	HP:0000966
9325	TRIP4	Muscle fiber atrophy	HP:0100295
9325	TRIP4	Weak cry	HP:0001612
9325	TRIP4	Minicore myopathy	HP:0003789
9325	TRIP4	Follicular hyperkeratosis	HP:0007502
9325	TRIP4	Gastrostomy tube feeding in infancy	HP:0011471
9325	TRIP4	Neck muscle weakness	HP:0000467
9325	TRIP4	Neonatal respiratory distress	HP:0002643
9325	TRIP4	Premature birth	HP:0001622
9325	TRIP4	Scoliosis	HP:0002650
9325	TRIP4	High palate	HP:0000218
9325	TRIP4	Multiple prenatal fractures	HP:0005855
9325	TRIP4	Dysphagia	HP:0002015
9325	TRIP4	Congestive heart failure	HP:0001635
9325	TRIP4	Gastroesophageal reflux	HP:0002020
9325	TRIP4	Increased variability in muscle fiber diameter	HP:0003557
9325	TRIP4	Spinal muscular atrophy	HP:0007269
9325	TRIP4	Cardiomyopathy	HP:0001638
9325	TRIP4	Centrally nucleated skeletal muscle fibers	HP:0003687
9325	TRIP4	Muscular dystrophy	HP:0003560
9325	TRIP4	Limb muscle weakness	HP:0003690
9325	TRIP4	Spinal rigidity	HP:0003306
9325	TRIP4	Patent ductus arteriosus	HP:0001643
9325	TRIP4	Joint laxity	HP:0001388
9325	TRIP4	Delayed speech and language development	HP:0000750
9325	TRIP4	Global developmental delay	HP:0001263
9325	TRIP4	Mildly elevated creatine kinase	HP:0008180
9325	TRIP4	Generalized amyotrophy	HP:0003700
9325	TRIP4	Arthrogryposis multiplex congenita	HP:0002804
9325	TRIP4	Poor head control	HP:0002421
9325	TRIP4	Motor delay	HP:0001270
9325	TRIP4	Axonal loss	HP:0003447
9325	TRIP4	Patent foramen ovale	HP:0001655
9325	TRIP4	Congenital onset	HP:0003577
9325	TRIP4	Pectus excavatum	HP:0000767
9326	ZNHIT3	Autosomal recessive inheritance	HP:0000007
9326	ZNHIT3	Optic atrophy	HP:0000648
9326	ZNHIT3	Generalized hypotonia	HP:0001290
9326	ZNHIT3	Intellectual disability, profound	HP:0002187
9326	ZNHIT3	Peripheral dysmyelination	HP:0003469
9326	ZNHIT3	Malar flattening	HP:0000272
9326	ZNHIT3	Macrotia	HP:0000400
9326	ZNHIT3	Retrognathia	HP:0000278
9326	ZNHIT3	Pachygyria	HP:0001302
9326	ZNHIT3	Midface retrusion	HP:0011800
9326	ZNHIT3	Drowsiness	HP:0002329
9326	ZNHIT3	Undetectable visual evoked potentials	HP:0007965
9326	ZNHIT3	Recurrent respiratory infections	HP:0002205
9326	ZNHIT3	Epicanthus	HP:0000286
9326	ZNHIT3	Tapered finger	HP:0001182
9326	ZNHIT3	Hypoplasia of the corpus callosum	HP:0002079
9326	ZNHIT3	Full cheeks	HP:0000293
9326	ZNHIT3	Feeding difficulties in infancy	HP:0008872
9326	ZNHIT3	Severe muscular hypotonia	HP:0006829
9326	ZNHIT3	Abnormal palate morphology	HP:0000174
9326	ZNHIT3	Abnormality of upper lip	HP:0000177
9326	ZNHIT3	Tented upper lip vermilion	HP:0010804
9326	ZNHIT3	Infantile spasms	HP:0012469
9326	ZNHIT3	Myoclonus	HP:0001336
9326	ZNHIT3	Visual loss	HP:0000572
9326	ZNHIT3	Palpebral edema	HP:0100540
9326	ZNHIT3	Feeding difficulties	HP:0011968
9326	ZNHIT3	Infantile encephalopathy	HP:0007105
9326	ZNHIT3	Edema of the dorsum of feet	HP:0012098
9326	ZNHIT3	Open mouth	HP:0000194
9326	ZNHIT3	Hyperreflexia	HP:0001347
9326	ZNHIT3	Biparietal narrowing	HP:0004422
9326	ZNHIT3	Atrophy/Degeneration affecting the brainstem	HP:0007366
9326	ZNHIT3	Ventriculomegaly	HP:0002119
9326	ZNHIT3	Cerebral cortical atrophy	HP:0002120
9326	ZNHIT3	Polymicrogyria	HP:0002126
9326	ZNHIT3	Anteverted nares	HP:0000463
9326	ZNHIT3	Gingival overgrowth	HP:0000212
9326	ZNHIT3	Porencephalic cyst	HP:0002132
9326	ZNHIT3	Narrow forehead	HP:0000341
9326	ZNHIT3	Hypsarrhythmia	HP:0002521
9326	ZNHIT3	Edema of the dorsum of hands	HP:0007514
9326	ZNHIT3	Limitation of joint mobility	HP:0001376
9326	ZNHIT3	Neuronal loss in central nervous system	HP:0002529
9326	ZNHIT3	Seizures	HP:0001250
9326	ZNHIT3	Peripheral edema	HP:0012398
9326	ZNHIT3	Hydrocephalus	HP:0000238
9326	ZNHIT3	Global developmental delay	HP:0001263
9326	ZNHIT3	Abnormality of eye movement	HP:0000496
9326	ZNHIT3	Intellectual disability, severe	HP:0010864
9326	ZNHIT3	Developmental stagnation	HP:0007281
9326	ZNHIT3	Arthrogryposis multiplex congenita	HP:0002804
9326	ZNHIT3	Pedal edema	HP:0010741
9326	ZNHIT3	Cerebellar atrophy	HP:0001272
9326	ZNHIT3	Short nose	HP:0003196
9326	ZNHIT3	Microcephaly	HP:0000252
9326	ZNHIT3	External ear malformation	HP:0008572
9326	ZNHIT3	Progressive microcephaly	HP:0000253
1134	CHRNA1	Akinesia	HP:0002304
1134	CHRNA1	Skeletal muscle atrophy	HP:0003202
1134	CHRNA1	EMG: myopathic abnormalities	HP:0003458
1134	CHRNA1	Bulbar palsy	HP:0001283
1134	CHRNA1	Facial palsy	HP:0010628
1134	CHRNA1	Vertebral fusion	HP:0002948
1134	CHRNA1	Triceps weakness	HP:0031108
1134	CHRNA1	Autosomal dominant inheritance	HP:0000006
1134	CHRNA1	Autosomal recessive inheritance	HP:0000007
1134	CHRNA1	Infantile onset	HP:0003593
1134	CHRNA1	Neck flexor weakness	HP:0003722
1134	CHRNA1	Diplopia	HP:0000651
1134	CHRNA1	Ankle weakness	HP:0031374
1134	CHRNA1	Macrotia	HP:0000400
1134	CHRNA1	Multiple pterygia	HP:0001040
1134	CHRNA1	Abnormal cervical curvature	HP:0005905
1134	CHRNA1	Fatigable weakness	HP:0003473
1134	CHRNA1	Delayed gross motor development	HP:0002194
1134	CHRNA1	Polyhydramnios	HP:0001561
1134	CHRNA1	Drowsiness	HP:0002329
1134	CHRNA1	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
1134	CHRNA1	Thoracic kyphoscoliosis	HP:0005659
1134	CHRNA1	Abnormality of masticatory muscle	HP:0410011
1134	CHRNA1	Epicanthus	HP:0000286
1134	CHRNA1	Reduced tendon reflexes	HP:0001315
1134	CHRNA1	Short finger	HP:0009381
1134	CHRNA1	Neonatal hypotonia	HP:0001319
1134	CHRNA1	Hypoplastic heart	HP:0001961
1134	CHRNA1	Pulmonary hypoplasia	HP:0002089
1134	CHRNA1	Restrictive ventilatory defect	HP:0002091
1134	CHRNA1	Weakness of the intrinsic hand muscles	HP:0009005
1134	CHRNA1	Cleft palate	HP:0000175
1134	CHRNA1	Amyoplasia	HP:0003634
1134	CHRNA1	Respiratory insufficiency due to muscle weakness	HP:0002747
1134	CHRNA1	Exertional dyspnea	HP:0002875
1134	CHRNA1	Easy fatigability	HP:0003388
1134	CHRNA1	Hypertelorism	HP:0000316
1134	CHRNA1	Respiratory failure	HP:0002878
1134	CHRNA1	Gowers sign	HP:0003391
1134	CHRNA1	Feeding difficulties	HP:0011968
1134	CHRNA1	Cyanosis	HP:0000961
1134	CHRNA1	Fetal akinesia sequence	HP:0001989
1134	CHRNA1	Edema	HP:0000969
1134	CHRNA1	Depressed nasal ridge	HP:0000457
1134	CHRNA1	Decreased miniature endplate potentials	HP:0003402
1134	CHRNA1	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
1134	CHRNA1	Weak cry	HP:0001612
1134	CHRNA1	Abnormal facial shape	HP:0001999
1134	CHRNA1	Neck muscle weakness	HP:0000467
1134	CHRNA1	Ophthalmoparesis	HP:0000597
1134	CHRNA1	Scoliosis	HP:0002650
1134	CHRNA1	High palate	HP:0000218
1134	CHRNA1	Onset	HP:0003674
1134	CHRNA1	Ophthalmoplegia	HP:0000602
1134	CHRNA1	Micrognathia	HP:0000347
1134	CHRNA1	Flexion contracture	HP:0001371
1134	CHRNA1	Type 1 muscle fiber predominance	HP:0003803
1134	CHRNA1	Shoulder girdle muscle weakness	HP:0003547
1134	CHRNA1	Cystic hygroma	HP:0000476
1134	CHRNA1	Orthopnea	HP:0012764
1134	CHRNA1	Joint dislocation	HP:0001373
1134	CHRNA1	Dysphagia	HP:0002015
1134	CHRNA1	Type 2 muscle fiber atrophy	HP:0003554
1134	CHRNA1	Increased susceptibility to fractures	HP:0002659
1134	CHRNA1	Hip flexor weakness	HP:0012515
1134	CHRNA1	Intrauterine growth retardation	HP:0001511
1134	CHRNA1	Reduced vital capacity	HP:0002792
1134	CHRNA1	Dysarthria	HP:0001260
1134	CHRNA1	Prolonged miniature endplate currents	HP:0003436
1134	CHRNA1	Poor suck	HP:0002033
1134	CHRNA1	Low-set ears	HP:0000369
1134	CHRNA1	Thin ribs	HP:0000883
1134	CHRNA1	Decreased size of nerve terminals	HP:0003443
1134	CHRNA1	Variable expressivity	HP:0003828
1134	CHRNA1	Arthrogryposis multiplex congenita	HP:0002804
1134	CHRNA1	Fatigable weakness of respiratory muscles	HP:0030196
1134	CHRNA1	Weakness of long finger extensor muscles	HP:0009077
1134	CHRNA1	Motor delay	HP:0001270
1134	CHRNA1	Fatigable weakness of neck muscles	HP:0030199
1134	CHRNA1	Generalized muscle weakness	HP:0003324
1134	CHRNA1	Ptosis	HP:0000508
1134	CHRNA1	Malignant hyperthermia	HP:0002047
1135	CHRNA2	Heterogeneous	HP:0001425
1135	CHRNA2	Seizures	HP:0001250
1135	CHRNA2	Behavioral abnormality	HP:0000708
1135	CHRNA2	Dystonia	HP:0001332
1135	CHRNA2	Incomplete penetrance	HP:0003829
1135	CHRNA2	Autosomal dominant inheritance	HP:0000006
1135	CHRNA2	Shivering	HP:0025144
1135	CHRNA2	Confusion	HP:0001289
1137	CHRNA4	Intellectual disability	HP:0001249
1137	CHRNA4	Incomplete penetrance	HP:0003829
1137	CHRNA4	Autosomal dominant inheritance	HP:0000006
1137	CHRNA4	Childhood onset	HP:0011463
1137	CHRNA4	Focal-onset seizure	HP:0007359
1139	CHRNA7	Macrocephaly	HP:0000256
1139	CHRNA7	Brachydactyly	HP:0001156
1139	CHRNA7	Behavioral abnormality	HP:0000708
1139	CHRNA7	Autosomal dominant inheritance	HP:0000006
1139	CHRNA7	Bipolar affective disorder	HP:0007302
1139	CHRNA7	Autism	HP:0000717
1139	CHRNA7	Abnormal facial shape	HP:0001999
1139	CHRNA7	Macrotia	HP:0000400
1139	CHRNA7	Schizophrenia	HP:0100753
1139	CHRNA7	Frontal bossing	HP:0002007
1139	CHRNA7	Synophrys	HP:0000664
1139	CHRNA7	Abnormality of cardiovascular system morphology	HP:0030680
1139	CHRNA7	Prominent nasal tip	HP:0005274
1139	CHRNA7	Protruding ear	HP:0000411
1139	CHRNA7	Epicanthus	HP:0000286
1139	CHRNA7	Intellectual disability	HP:0001249
1139	CHRNA7	Seizures	HP:0001250
1139	CHRNA7	Short stature	HP:0004322
1139	CHRNA7	Melanocytic nevus	HP:0000995
1139	CHRNA7	Muscular hypotonia	HP:0001252
1139	CHRNA7	Intellectual disability, moderate	HP:0002342
1139	CHRNA7	Strabismus	HP:0000486
1139	CHRNA7	Intellectual disability, mild	HP:0001256
1139	CHRNA7	Attention deficit hyperactivity disorder	HP:0007018
1139	CHRNA7	Downslanted palpebral fissures	HP:0000494
1139	CHRNA7	Global developmental delay	HP:0001263
1139	CHRNA7	Intellectual disability, severe	HP:0010864
1139	CHRNA7	Specific learning disability	HP:0001328
1139	CHRNA7	Clinodactyly of the 5th finger	HP:0004209
1139	CHRNA7	Abnormality of the palpebral fissures	HP:0008050
1139	CHRNA7	Incomplete penetrance	HP:0003829
1139	CHRNA7	Abnormality of the pinna	HP:0000377
1139	CHRNA7	Hypertelorism	HP:0000316
1139	CHRNA7	Microcephaly	HP:0000252
58484	NLRC4	Macrocephaly	HP:0000256
58484	NLRC4	Urticaria	HP:0001025
58484	NLRC4	Brachydactyly	HP:0001156
58484	NLRC4	Autosomal dominant inheritance	HP:0000006
58484	NLRC4	Meningitis	HP:0001287
58484	NLRC4	Proptosis	HP:0000520
58484	NLRC4	Headache	HP:0002315
58484	NLRC4	Arthralgia	HP:0002829
58484	NLRC4	Disseminated intravascular coagulation	HP:0005521
58484	NLRC4	Sensorineural hearing impairment	HP:0000407
58484	NLRC4	Dehydration	HP:0001944
58484	NLRC4	Fever	HP:0001945
58484	NLRC4	Pseudopapilledema	HP:0000538
58484	NLRC4	Migraine	HP:0002076
58484	NLRC4	Lymphadenopathy	HP:0002716
58484	NLRC4	Erythema	HP:0010783
58484	NLRC4	Enterocolitis	HP:0004387
58484	NLRC4	Polydipsia	HP:0001959
58484	NLRC4	Uveitis	HP:0000554
58484	NLRC4	Retrobulbar optic neuritis	HP:0100654
58484	NLRC4	EEG abnormality	HP:0002353
58484	NLRC4	Leukocytosis	HP:0001974
58484	NLRC4	Hepatomegaly	HP:0002240
58484	NLRC4	Delayed closure of the anterior fontanelle	HP:0001476
58484	NLRC4	Edema	HP:0000969
58484	NLRC4	Hyperhidrosis	HP:0000975
58484	NLRC4	Abnormal thrombocyte morphology	HP:0001872
58484	NLRC4	Splenomegaly	HP:0001744
58484	NLRC4	Increased serum ferritin	HP:0003281
58484	NLRC4	Abnormality of neutrophils	HP:0001874
58484	NLRC4	Purpura	HP:0000979
58484	NLRC4	Increased intracranial pressure	HP:0002516
58484	NLRC4	Pancytopenia	HP:0001876
58484	NLRC4	Premature birth	HP:0001622
58484	NLRC4	Frontal bossing	HP:0002007
58484	NLRC4	Episodic	HP:0025303
58484	NLRC4	Secretory diarrhea	HP:0005208
58484	NLRC4	Arthritis	HP:0001369
58484	NLRC4	Fatigue	HP:0012378
58484	NLRC4	Elevated C-reactive protein level	HP:0011227
58484	NLRC4	Skeletal dysplasia	HP:0002652
58484	NLRC4	Skin rash	HP:0000988
58484	NLRC4	Joint dislocation	HP:0001373
58484	NLRC4	Pruritus	HP:0000989
58484	NLRC4	Intellectual disability	HP:0001249
58484	NLRC4	Nausea and vomiting	HP:0002017
58484	NLRC4	Papule	HP:0200034
58484	NLRC4	Short stature	HP:0004322
58484	NLRC4	Failure to thrive	HP:0001508
58484	NLRC4	Growth delay	HP:0001510
58484	NLRC4	Blindness	HP:0000618
58484	NLRC4	Abdominal pain	HP:0002027
58484	NLRC4	Elevated erythrocyte sedimentation rate	HP:0003565
58484	NLRC4	Anemia	HP:0001903
58484	NLRC4	Global developmental delay	HP:0001263
58484	NLRC4	Dysesthesia	HP:0012534
58484	NLRC4	Reduced bone mineral density	HP:0004349
58484	NLRC4	Conjunctivitis	HP:0000509
58484	NLRC4	Myalgia	HP:0003326
1140	CHRNB1	Feeding difficulties	HP:0011968
1140	CHRNB1	Cyanosis	HP:0000961
1140	CHRNB1	Skeletal muscle atrophy	HP:0003202
1140	CHRNB1	EMG: myopathic abnormalities	HP:0003458
1140	CHRNB1	Triceps weakness	HP:0031108
1140	CHRNB1	Facial palsy	HP:0010628
1140	CHRNB1	Autosomal dominant inheritance	HP:0000006
1140	CHRNB1	Autosomal recessive inheritance	HP:0000007
1140	CHRNB1	Decreased miniature endplate potentials	HP:0003402
1140	CHRNB1	Neck flexor weakness	HP:0003722
1140	CHRNB1	Diplopia	HP:0000651
1140	CHRNB1	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
1140	CHRNB1	Ankle weakness	HP:0031374
1140	CHRNB1	Delayed gross motor development	HP:0002194
1140	CHRNB1	Narrow face	HP:0000275
1140	CHRNB1	Long face	HP:0000276
1140	CHRNB1	Ophthalmoparesis	HP:0000597
1140	CHRNB1	Drowsiness	HP:0002329
1140	CHRNB1	High palate	HP:0000218
1140	CHRNB1	Ophthalmoplegia	HP:0000602
1140	CHRNB1	Thoracic kyphoscoliosis	HP:0005659
1140	CHRNB1	Type 1 muscle fiber predominance	HP:0003803
1140	CHRNB1	Shoulder girdle muscle weakness	HP:0003547
1140	CHRNB1	Flexion contracture	HP:0001371
1140	CHRNB1	Orthopnea	HP:0012764
1140	CHRNB1	Abnormality of masticatory muscle	HP:0410011
1140	CHRNB1	Reduced tendon reflexes	HP:0001315
1140	CHRNB1	Hip flexor weakness	HP:0012515
1140	CHRNB1	Neonatal hypotonia	HP:0001319
1140	CHRNB1	Reduced vital capacity	HP:0002792
1140	CHRNB1	Restrictive ventilatory defect	HP:0002091
1140	CHRNB1	Muscle weakness	HP:0001324
1140	CHRNB1	Weakness of the intrinsic hand muscles	HP:0009005
1140	CHRNB1	Respiratory insufficiency	HP:0002093
1140	CHRNB1	Decreased size of nerve terminals	HP:0003443
1140	CHRNB1	Fatigable weakness of respiratory muscles	HP:0030196
1140	CHRNB1	Weakness of long finger extensor muscles	HP:0009077
1140	CHRNB1	Fatigable weakness of neck muscles	HP:0030199
1140	CHRNB1	Congenital onset	HP:0003577
1140	CHRNB1	Exertional dyspnea	HP:0002875
1140	CHRNB1	Ptosis	HP:0000508
1140	CHRNB1	Easy fatigability	HP:0003388
1140	CHRNB1	Respiratory failure	HP:0002878
1140	CHRNB1	Myopathy	HP:0003198
91252	SLC39A13	Thenar muscle atrophy	HP:0003393
91252	SLC39A13	Bifid uvula	HP:0000193
91252	SLC39A13	Short metacarpal	HP:0010049
91252	SLC39A13	Joint contracture of the hand	HP:0009473
91252	SLC39A13	Short femoral neck	HP:0100864
91252	SLC39A13	Thin skin	HP:0000963
91252	SLC39A13	Autosomal recessive inheritance	HP:0000007
91252	SLC39A13	Metaphyseal widening	HP:0003016
91252	SLC39A13	Proptosis	HP:0000520
91252	SLC39A13	Camptodactyly of finger	HP:0100490
91252	SLC39A13	Short phalanx of finger	HP:0009803
91252	SLC39A13	Hyperextensible skin	HP:0000974
91252	SLC39A13	Blue sclerae	HP:0000592
91252	SLC39A13	Moderately short stature	HP:0008848
91252	SLC39A13	Bruising susceptibility	HP:0000978
91252	SLC39A13	Waddling gait	HP:0002515
91252	SLC39A13	High palate	HP:0000218
91252	SLC39A13	Flexion contracture	HP:0001371
91252	SLC39A13	Hypodontia	HP:0000668
91252	SLC39A13	Skeletal dysplasia	HP:0002652
91252	SLC39A13	Broad femoral neck	HP:0006429
91252	SLC39A13	Tapered finger	HP:0001182
91252	SLC39A13	Platyspondyly	HP:0000926
91252	SLC39A13	Short stature	HP:0004322
91252	SLC39A13	Pes planus	HP:0001763
91252	SLC39A13	Failure to thrive	HP:0001508
91252	SLC39A13	Irregular vertebral endplates	HP:0003301
91252	SLC39A13	Osteopenia	HP:0000938
91252	SLC39A13	Flat capital femoral epiphysis	HP:0003370
91252	SLC39A13	Delayed eruption of teeth	HP:0000684
91252	SLC39A13	Joint laxity	HP:0001388
91252	SLC39A13	Downslanted palpebral fissures	HP:0000494
91252	SLC39A13	Abnormality of the metaphysis	HP:0000944
91252	SLC39A13	Cigarette-paper scars	HP:0001073
91252	SLC39A13	Dental malocclusion	HP:0000689
91252	SLC39A13	Prominent superficial veins	HP:0001015
91252	SLC39A13	Absent palmar crease	HP:0010489
9333	TGM5	Ichthyosis	HP:0008064
9333	TGM5	Papule	HP:0200034
9333	TGM5	Abnormal blistering of the skin	HP:0008066
9333	TGM5	Eczema	HP:0000964
9333	TGM5	Autosomal recessive inheritance	HP:0000007
9333	TGM5	Allergy	HP:0012393
9333	TGM5	Skin erosion	HP:0200041
9333	TGM5	High hypermetropia	HP:0008499
9333	TGM5	Excessive wrinkling of palmar skin	HP:0007605
9333	TGM5	Hyperpigmentation of the skin	HP:0000953
9333	TGM5	Scaling skin	HP:0040189
9333	TGM5	Macule	HP:0012733
9333	TGM5	Erythema	HP:0010783
1141	CHRNB2	Seizures	HP:0001250
1141	CHRNB2	Autosomal dominant inheritance	HP:0000006
1144	CHRND	Akinesia	HP:0002304
1144	CHRND	Skeletal muscle atrophy	HP:0003202
1144	CHRND	EMG: myopathic abnormalities	HP:0003458
1144	CHRND	Facial palsy	HP:0010628
1144	CHRND	Vertebral fusion	HP:0002948
1144	CHRND	Triceps weakness	HP:0031108
1144	CHRND	Autosomal dominant inheritance	HP:0000006
1144	CHRND	Autosomal recessive inheritance	HP:0000007
1144	CHRND	Infantile onset	HP:0003593
1144	CHRND	Generalized hypotonia	HP:0001290
1144	CHRND	Neck flexor weakness	HP:0003722
1144	CHRND	Diplopia	HP:0000651
1144	CHRND	Ankle weakness	HP:0031374
1144	CHRND	Multiple pterygia	HP:0001040
1144	CHRND	Abnormal cervical curvature	HP:0005905
1144	CHRND	Delayed gross motor development	HP:0002194
1144	CHRND	Decreased fetal movement	HP:0001558
1144	CHRND	Polyhydramnios	HP:0001561
1144	CHRND	Drowsiness	HP:0002329
1144	CHRND	Thoracic kyphoscoliosis	HP:0005659
1144	CHRND	Abnormality of masticatory muscle	HP:0410011
1144	CHRND	Epicanthus	HP:0000286
1144	CHRND	Reduced tendon reflexes	HP:0001315
1144	CHRND	Short finger	HP:0009381
1144	CHRND	Neonatal hypotonia	HP:0001319
1144	CHRND	Hypoplastic heart	HP:0001961
1144	CHRND	Pulmonary hypoplasia	HP:0002089
1144	CHRND	Restrictive ventilatory defect	HP:0002091
1144	CHRND	Respiratory insufficiency	HP:0002093
1144	CHRND	Weakness of the intrinsic hand muscles	HP:0009005
1144	CHRND	Cleft palate	HP:0000175
1144	CHRND	Amyoplasia	HP:0003634
1144	CHRND	Exertional dyspnea	HP:0002875
1144	CHRND	Easy fatigability	HP:0003388
1144	CHRND	Hypertelorism	HP:0000316
1144	CHRND	Respiratory failure	HP:0002878
1144	CHRND	Feeding difficulties	HP:0011968
1144	CHRND	Cyanosis	HP:0000961
1144	CHRND	Fetal akinesia sequence	HP:0001989
1144	CHRND	Edema	HP:0000969
1144	CHRND	Depressed nasal ridge	HP:0000457
1144	CHRND	Decreased miniature endplate potentials	HP:0003402
1144	CHRND	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
1144	CHRND	Abnormal facial shape	HP:0001999
1144	CHRND	Neck muscle weakness	HP:0000467
1144	CHRND	Ophthalmoparesis	HP:0000597
1144	CHRND	High palate	HP:0000218
1144	CHRND	Fatigue	HP:0012378
1144	CHRND	Ophthalmoplegia	HP:0000602
1144	CHRND	Micrognathia	HP:0000347
1144	CHRND	Flexion contracture	HP:0001371
1144	CHRND	Type 1 muscle fiber predominance	HP:0003803
1144	CHRND	Shoulder girdle muscle weakness	HP:0003547
1144	CHRND	Cystic hygroma	HP:0000476
1144	CHRND	Orthopnea	HP:0012764
1144	CHRND	Progressive	HP:0003676
1144	CHRND	Joint dislocation	HP:0001373
1144	CHRND	Dysphagia	HP:0002015
1144	CHRND	Increased susceptibility to fractures	HP:0002659
1144	CHRND	Hip flexor weakness	HP:0012515
1144	CHRND	Intrauterine growth retardation	HP:0001511
1144	CHRND	Reduced vital capacity	HP:0002792
1144	CHRND	Inability to walk	HP:0002540
1144	CHRND	Low-set ears	HP:0000369
1144	CHRND	Thin ribs	HP:0000883
1144	CHRND	Decreased size of nerve terminals	HP:0003443
1144	CHRND	Fatigable weakness of respiratory muscles	HP:0030196
1144	CHRND	Weakness of long finger extensor muscles	HP:0009077
1144	CHRND	Fatigable weakness of neck muscles	HP:0030199
1144	CHRND	Congenital onset	HP:0003577
1144	CHRND	Ptosis	HP:0000508
1144	CHRND	Generalized muscle weakness	HP:0003324
1144	CHRND	Myopathy	HP:0003198
1144	CHRND	Malignant hyperthermia	HP:0002047
1145	CHRNE	Skeletal muscle atrophy	HP:0003202
1145	CHRNE	EMG: myopathic abnormalities	HP:0003458
1145	CHRNE	Bulbar palsy	HP:0001283
1145	CHRNE	Facial palsy	HP:0010628
1145	CHRNE	Triceps weakness	HP:0031108
1145	CHRNE	Autosomal dominant inheritance	HP:0000006
1145	CHRNE	Autosomal recessive inheritance	HP:0000007
1145	CHRNE	Infantile onset	HP:0003593
1145	CHRNE	Generalized hypotonia	HP:0001290
1145	CHRNE	Neck flexor weakness	HP:0003722
1145	CHRNE	Diplopia	HP:0000651
1145	CHRNE	Ankle weakness	HP:0031374
1145	CHRNE	Fatigable weakness	HP:0003473
1145	CHRNE	Delayed gross motor development	HP:0002194
1145	CHRNE	Long face	HP:0000276
1145	CHRNE	Decreased fetal movement	HP:0001558
1145	CHRNE	Drowsiness	HP:0002329
1145	CHRNE	Thoracic kyphoscoliosis	HP:0005659
1145	CHRNE	Abnormality of the immune system	HP:0002715
1145	CHRNE	Abnormality of masticatory muscle	HP:0410011
1145	CHRNE	Reduced tendon reflexes	HP:0001315
1145	CHRNE	Neonatal hypotonia	HP:0001319
1145	CHRNE	Feeding difficulties in infancy	HP:0008872
1145	CHRNE	Restrictive ventilatory defect	HP:0002091
1145	CHRNE	Respiratory insufficiency	HP:0002093
1145	CHRNE	Weakness of the intrinsic hand muscles	HP:0009005
1145	CHRNE	Mandibular prognathia	HP:0000303
1145	CHRNE	Dental malocclusion	HP:0000689
1145	CHRNE	Respiratory distress	HP:0002098
1145	CHRNE	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
1145	CHRNE	Respiratory insufficiency due to muscle weakness	HP:0002747
1145	CHRNE	Exertional dyspnea	HP:0002875
1145	CHRNE	Easy fatigability	HP:0003388
1145	CHRNE	Respiratory failure	HP:0002878
1145	CHRNE	Gowers sign	HP:0003391
1145	CHRNE	Feeding difficulties	HP:0011968
1145	CHRNE	Cyanosis	HP:0000961
1145	CHRNE	Sudden episodic apnea	HP:0002882
1145	CHRNE	Muscle spasm	HP:0003394
1145	CHRNE	Generalized hypotonia due to defect at the neuromuscular junction	HP:0003397
1145	CHRNE	Decreased miniature endplate potentials	HP:0003402
1145	CHRNE	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
1145	CHRNE	Weak cry	HP:0001612
1145	CHRNE	Neck muscle weakness	HP:0000467
1145	CHRNE	Ophthalmoparesis	HP:0000597
1145	CHRNE	Ophthalmoplegia	HP:0000602
1145	CHRNE	High palate	HP:0000218
1145	CHRNE	Type 1 muscle fiber predominance	HP:0003803
1145	CHRNE	Shoulder girdle muscle weakness	HP:0003547
1145	CHRNE	Orthopnea	HP:0012764
1145	CHRNE	Dysphagia	HP:0002015
1145	CHRNE	Nonprogressive	HP:0003680
1145	CHRNE	Type 2 muscle fiber atrophy	HP:0003554
1145	CHRNE	Hip flexor weakness	HP:0012515
1145	CHRNE	Strabismus	HP:0000486
1145	CHRNE	Reduced vital capacity	HP:0002792
1145	CHRNE	Limb muscle weakness	HP:0003690
1145	CHRNE	Dysarthria	HP:0001260
1145	CHRNE	Poor suck	HP:0002033
1145	CHRNE	Decreased size of nerve terminals	HP:0003443
1145	CHRNE	Fatigable weakness of respiratory muscles	HP:0030196
1145	CHRNE	Arthrogryposis multiplex congenita	HP:0002804
1145	CHRNE	Variable expressivity	HP:0003828
1145	CHRNE	Weakness of long finger extensor muscles	HP:0009077
1145	CHRNE	Motor delay	HP:0001270
1145	CHRNE	Fatigable weakness of neck muscles	HP:0030199
1145	CHRNE	Congenital onset	HP:0003577
1145	CHRNE	Ptosis	HP:0000508
1145	CHRNE	Myopathy	HP:0003198
1145	CHRNE	Decreased muscle mass	HP:0003199
1146	CHRNG	Akinesia	HP:0002304
1146	CHRNG	Umbilical hernia	HP:0001537
1146	CHRNG	Autosomal recessive inheritance	HP:0000007
1146	CHRNG	Congenital diaphragmatic hernia	HP:0000776
1146	CHRNG	Gait disturbance	HP:0001288
1146	CHRNG	Hip dislocation	HP:0002827
1146	CHRNG	Dislocated radial head	HP:0003083
1146	CHRNG	Dolichocephaly	HP:0000268
1146	CHRNG	Multiple pterygia	HP:0001040
1146	CHRNG	Abnormal cervical curvature	HP:0005905
1146	CHRNG	Long face	HP:0000276
1146	CHRNG	Decreased fetal movement	HP:0001558
1146	CHRNG	Inguinal hernia	HP:0000023
1146	CHRNG	Polyhydramnios	HP:0001561
1146	CHRNG	Absence of labia majora	HP:0008729
1146	CHRNG	Popliteal pterygium	HP:0009756
1146	CHRNG	Cryptorchidism	HP:0000028
1146	CHRNG	Intercrural pterygium	HP:0009757
1146	CHRNG	Epicanthus	HP:0000286
1146	CHRNG	Neck pterygia	HP:0009759
1146	CHRNG	Antecubital pterygium	HP:0009760
1146	CHRNG	Hypoplasia of penis	HP:0008736
1146	CHRNG	Anterior clefting of vertebral bodies	HP:0009761
1146	CHRNG	Axillary pterygium	HP:0001060
1146	CHRNG	Pulmonary hypoplasia	HP:0002089
1146	CHRNG	Patellar aplasia	HP:0006443
1146	CHRNG	Camptodactyly of toe	HP:0001836
1146	CHRNG	Symphalangism affecting the phalanges of the hand	HP:0009773
1146	CHRNG	Dysplastic patella	HP:0006446
1146	CHRNG	Rocker bottom foot	HP:0001838
1146	CHRNG	Scrotal hypoplasia	HP:0000046
1146	CHRNG	Hypospadias	HP:0000047
1146	CHRNG	Amyoplasia	HP:0003634
1146	CHRNG	Pointed chin	HP:0000307
1146	CHRNG	Hypertelorism	HP:0000316
1146	CHRNG	Facial asymmetry	HP:0000324
1146	CHRNG	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
1146	CHRNG	Aortic aneurysm	HP:0004942
1146	CHRNG	Neonatal respiratory distress	HP:0002643
1146	CHRNG	Long philtrum	HP:0000343
1146	CHRNG	Scoliosis	HP:0002650
1146	CHRNG	Micrognathia	HP:0000347
1146	CHRNG	Flexion contracture	HP:0001371
1146	CHRNG	Talipes calcaneovalgus	HP:0001884
1146	CHRNG	Joint dislocation	HP:0001373
1146	CHRNG	Vertebral segmentation defect	HP:0003422
1146	CHRNG	Limitation of joint mobility	HP:0001376
1146	CHRNG	Increased susceptibility to fractures	HP:0002659
1146	CHRNG	Exostosis of the external auditory canal	HP:0004459
1146	CHRNG	Abnormal aortic valve morphology	HP:0001646
1146	CHRNG	Low-set ears	HP:0000369
1146	CHRNG	Low posterior hairline	HP:0002162
1146	CHRNG	Thin ribs	HP:0000883
1146	CHRNG	Long clavicles	HP:0000890
1146	CHRNG	Aplasia/Hypoplasia of the skin	HP:0008065
1146	CHRNG	Skeletal muscle atrophy	HP:0003202
1146	CHRNG	Vertebral fusion	HP:0002948
1146	CHRNG	Fused cervical vertebrae	HP:0002949
1146	CHRNG	Rib fusion	HP:0000902
1146	CHRNG	Syndactyly	HP:0001159
1146	CHRNG	Hypogonadism	HP:0000135
1146	CHRNG	Camptodactyly of finger	HP:0100490
1146	CHRNG	Arachnodactyly	HP:0001166
1146	CHRNG	Conductive hearing impairment	HP:0000405
1146	CHRNG	Diaphragmatic eventration	HP:0009110
1146	CHRNG	Downturned corners of mouth	HP:0002714
1146	CHRNG	Abnormality of the tongue	HP:0000157
1146	CHRNG	Narrow mouth	HP:0000160
1146	CHRNG	Short finger	HP:0009381
1146	CHRNG	Hypoplastic heart	HP:0001961
1146	CHRNG	Morphological abnormality of the gastrointestinal tract	HP:0012718
1146	CHRNG	Cleft palate	HP:0000175
1146	CHRNG	Nevus	HP:0003764
1146	CHRNG	Cognitive impairment	HP:0100543
1146	CHRNG	Fetal akinesia sequence	HP:0001989
1146	CHRNG	Edema	HP:0000969
1146	CHRNG	Depressed nasal ridge	HP:0000457
1146	CHRNG	Abnormal facial shape	HP:0001999
1146	CHRNG	Abnormality of the neck	HP:0000464
1146	CHRNG	Webbed neck	HP:0000465
1146	CHRNG	Finger syndactyly	HP:0006101
1146	CHRNG	High palate	HP:0000218
1146	CHRNG	Cystic hygroma	HP:0000476
1146	CHRNG	Abnormality of the foot	HP:0001760
1146	CHRNG	Talipes equinovarus	HP:0001762
1146	CHRNG	Short stature	HP:0004322
1146	CHRNG	Spina bifida occulta	HP:0003298
1146	CHRNG	Failure to thrive	HP:0001508
1146	CHRNG	Strabismus	HP:0000486
1146	CHRNG	Intrauterine growth retardation	HP:0001511
1146	CHRNG	Downslanted palpebral fissures	HP:0000494
1146	CHRNG	Bilateral camptodactyly	HP:0005617
1146	CHRNG	Arthrogryposis multiplex congenita	HP:0002804
1146	CHRNG	Kyphosis	HP:0002808
1146	CHRNG	Telecanthus	HP:0000506
1146	CHRNG	Ptosis	HP:0000508
1146	CHRNG	Microcephaly	HP:0000252
1146	CHRNG	Hypoplastic nipples	HP:0002557
1146	CHRNG	Malignant hyperthermia	HP:0002047
1146	CHRNG	Pectus excavatum	HP:0000767
1147	CHUK	Upper limb undergrowth	HP:0009824
1147	CHUK	Aplasia of the sweat glands	HP:0011136
1147	CHUK	Thin skin	HP:0000963
1147	CHUK	Omphalocele	HP:0001539
1147	CHUK	Mandibular aplasia	HP:0009939
1147	CHUK	Anotia	HP:0009892
1147	CHUK	Autosomal recessive inheritance	HP:0000007
1147	CHUK	Lower limb undergrowth	HP:0009816
1147	CHUK	Protruding tongue	HP:0010808
1147	CHUK	Absent external genitalia	HP:0000042
1147	CHUK	Microcephaly	HP:0000252
9342	SNAP29	Ichthyosis	HP:0008064
9342	SNAP29	Areflexia	HP:0001284
9342	SNAP29	Autosomal recessive inheritance	HP:0000007
9342	SNAP29	Hypogonadism	HP:0000135
9342	SNAP29	Optic atrophy	HP:0000648
9342	SNAP29	Infantile onset	HP:0003593
9342	SNAP29	Depressed nasal ridge	HP:0000457
9342	SNAP29	Diffuse palmoplantar keratoderma	HP:0007435
9342	SNAP29	Dolichocephaly	HP:0000268
9342	SNAP29	Polymicrogyria	HP:0002126
9342	SNAP29	Macrotia	HP:0000400
9342	SNAP29	Stroke	HP:0001297
9342	SNAP29	Long face	HP:0000276
9342	SNAP29	Optic disc hypoplasia	HP:0007766
9342	SNAP29	Pachygyria	HP:0001302
9342	SNAP29	Palmoplantar keratoderma	HP:0000982
9342	SNAP29	Sensorineural hearing impairment	HP:0000407
9342	SNAP29	Proteinuria	HP:0000093
9342	SNAP29	Depressed nasal bridge	HP:0005280
9342	SNAP29	Intellectual disability	HP:0001249
9342	SNAP29	Short stature	HP:0004322
9342	SNAP29	Seizures	HP:0001250
9342	SNAP29	Congestive heart failure	HP:0001635
9342	SNAP29	Ataxia	HP:0001251
9342	SNAP29	Muscular hypotonia	HP:0001252
9342	SNAP29	Failure to thrive	HP:0001508
9342	SNAP29	Nephrotic syndrome	HP:0000100
9342	SNAP29	Abnormality of the dentition	HP:0000164
9342	SNAP29	Peripheral neuropathy	HP:0009830
9342	SNAP29	Intellectual disability, progressive	HP:0006887
9342	SNAP29	Prominent nasal bridge	HP:0000426
9342	SNAP29	Cortical dysplasia	HP:0002539
9342	SNAP29	Downslanted palpebral fissures	HP:0000494
9342	SNAP29	Wide nasal bridge	HP:0000431
9342	SNAP29	Global developmental delay	HP:0001263
9342	SNAP29	Intellectual disability, severe	HP:0010864
9342	SNAP29	Abnormality of eye movement	HP:0000496
9342	SNAP29	Poor head control	HP:0002421
9342	SNAP29	Polyneuropathy	HP:0001271
9342	SNAP29	Abnormality of vision	HP:0000504
9342	SNAP29	Abnormal corpus callosum morphology	HP:0001273
9342	SNAP29	Hypertelorism	HP:0000316
9342	SNAP29	Microcephaly	HP:0000252
9342	SNAP29	Progressive microcephaly	HP:0000253
9342	SNAP29	Abnormality of peripheral nerve conduction	HP:0003134
9343	EFTUD2	Preauricular skin tag	HP:0000384
9343	EFTUD2	Feeding difficulties	HP:0011968
9343	EFTUD2	Absent tragus	HP:0011268
9343	EFTUD2	Choanal atresia	HP:0000453
9343	EFTUD2	Upslanted palpebral fissure	HP:0000582
9343	EFTUD2	Autosomal dominant inheritance	HP:0000006
9343	EFTUD2	Autosomal recessive inheritance	HP:0000007
9343	EFTUD2	Hypoplasia of the maxilla	HP:0000327
9343	EFTUD2	Underdeveloped tragus	HP:0011272
9343	EFTUD2	Mandibulofacial dysostosis	HP:0005321
9343	EFTUD2	Abnormality of the antihelix	HP:0009738
9343	EFTUD2	Overfolded helix	HP:0000396
9343	EFTUD2	Anteverted nares	HP:0000463
9343	EFTUD2	Malar flattening	HP:0000272
9343	EFTUD2	Deep philtrum	HP:0002002
9343	EFTUD2	Large earlobe	HP:0009748
9343	EFTUD2	Conductive hearing impairment	HP:0000405
9343	EFTUD2	Slender finger	HP:0001238
9343	EFTUD2	Proximal placement of thumb	HP:0009623
9343	EFTUD2	Midface retrusion	HP:0011800
9343	EFTUD2	Preaxial hand polydactyly	HP:0001177
9343	EFTUD2	Micrognathia	HP:0000347
9343	EFTUD2	Ventricular septal defect	HP:0001629
9343	EFTUD2	Atresia of the external auditory canal	HP:0000413
9343	EFTUD2	Epicanthus	HP:0000286
9343	EFTUD2	Atrial septal defect	HP:0001631
9343	EFTUD2	Intellectual disability	HP:0001249
9343	EFTUD2	Morphological abnormality of the middle ear	HP:0008609
9343	EFTUD2	Seizures	HP:0001250
9343	EFTUD2	Short stature	HP:0004322
9343	EFTUD2	Microtia	HP:0008551
9343	EFTUD2	Feeding difficulties in infancy	HP:0008872
9343	EFTUD2	Postnatal microcephaly	HP:0005484
9343	EFTUD2	Downslanted palpebral fissures	HP:0000494
9343	EFTUD2	Delayed speech and language development	HP:0000750
9343	EFTUD2	Cleft palate	HP:0000175
9343	EFTUD2	Global developmental delay	HP:0001263
9343	EFTUD2	Esophageal atresia	HP:0002032
9343	EFTUD2	Low-set ears	HP:0000369
9343	EFTUD2	Respiratory distress	HP:0002098
9343	EFTUD2	Trigonocephaly	HP:0000243
9343	EFTUD2	Telecanthus	HP:0000506
9343	EFTUD2	Microcephaly	HP:0000252
9343	EFTUD2	Short nose	HP:0003196
9343	EFTUD2	Progressive microcephaly	HP:0000253
9343	EFTUD2	Accessory oral frenulum	HP:0000191
58495	OVOL2	Iris atrophy	HP:0001089
58495	OVOL2	Photophobia	HP:0000613
58495	OVOL2	Glaucoma	HP:0000501
58495	OVOL2	Autosomal dominant inheritance	HP:0000006
58495	OVOL2	Epiphora	HP:0009926
58495	OVOL2	Thinning of Descemet membrane	HP:0031159
58495	OVOL2	Band keratopathy	HP:0000585
58495	OVOL2	Polymorphous posterior corneal dystrophy	HP:0007915
58495	OVOL2	Anterior synechiae of the anterior chamber	HP:0011483
58495	OVOL2	Uveal ectropion	HP:0025358
58495	OVOL2	Ectopia pupillae	HP:0009918
58497	PRUNE1	Profound global developmental delay	HP:0012736
58497	PRUNE1	Delayed myelination	HP:0012448
58497	PRUNE1	Seizures	HP:0001250
58497	PRUNE1	Skeletal muscle atrophy	HP:0003202
58497	PRUNE1	Spastic tetraparesis	HP:0001285
58497	PRUNE1	Cataract	HP:0000518
58497	PRUNE1	Optic atrophy	HP:0000648
58497	PRUNE1	Cerebral cortical atrophy	HP:0002120
58497	PRUNE1	Proptosis	HP:0000520
58497	PRUNE1	Generalized hypotonia	HP:0001290
58497	PRUNE1	Plagiocephaly	HP:0001357
58497	PRUNE1	Macrotia	HP:0000400
58497	PRUNE1	Cerebellar atrophy	HP:0001272
58497	PRUNE1	Clonus	HP:0002169
58497	PRUNE1	Congenital onset	HP:0003577
58497	PRUNE1	Protruding ear	HP:0000411
58497	PRUNE1	Microcephaly	HP:0000252
58497	PRUNE1	Progressive	HP:0003676
58497	PRUNE1	Hypoplasia of the corpus callosum	HP:0002079
1161	ERCC8	Retinal pigment epithelial mottling	HP:0007814
1161	ERCC8	Cataract	HP:0000518
1161	ERCC8	Sparse hair	HP:0008070
1161	ERCC8	Hypoplastic pelvis	HP:0008839
1161	ERCC8	Autosomal recessive inheritance	HP:0000007
1161	ERCC8	Hypogonadism	HP:0000135
1161	ERCC8	Optic atrophy	HP:0000648
1161	ERCC8	Gait disturbance	HP:0001288
1161	ERCC8	Abnormality of visual evoked potentials	HP:0000649
1161	ERCC8	Infantile onset	HP:0003593
1161	ERCC8	Cerebral atrophy	HP:0002059
1161	ERCC8	Peripheral dysmyelination	HP:0003469
1161	ERCC8	Heterogeneous	HP:0001425
1161	ERCC8	Severe postnatal growth retardation	HP:0008850
1161	ERCC8	Sensorineural hearing impairment	HP:0000407
1161	ERCC8	Increased cellular sensitivity to UV light	HP:0003224
1161	ERCC8	Arrhythmia	HP:0011675
1161	ERCC8	Hypermetropia	HP:0000540
1161	ERCC8	Cryptorchidism	HP:0000028
1161	ERCC8	Thymic hormone decreased	HP:0003357
1161	ERCC8	Carious teeth	HP:0000670
1161	ERCC8	Slender nose	HP:0000417
1161	ERCC8	Loss of facial adipose tissue	HP:0000292
1161	ERCC8	Normal pressure hydrocephalus	HP:0002343
1161	ERCC8	Delayed eruption of primary teeth	HP:0000680
1161	ERCC8	Muscle weakness	HP:0001324
1161	ERCC8	Hypoplasia of teeth	HP:0000685
1161	ERCC8	Reduced subcutaneous adipose tissue	HP:0003758
1161	ERCC8	Abnormal auditory evoked potentials	HP:0006958
1161	ERCC8	Mandibular prognathia	HP:0000303
1161	ERCC8	Dental malocclusion	HP:0000689
1161	ERCC8	Hypoplastic iliac wing	HP:0002866
1161	ERCC8	Micropenis	HP:0000054
1161	ERCC8	Hypertension	HP:0000822
1161	ERCC8	Tremor	HP:0001337
1161	ERCC8	Dry skin	HP:0000958
1161	ERCC8	Hepatomegaly	HP:0002240
1161	ERCC8	Pigmentary retinopathy	HP:0000580
1161	ERCC8	Freckling	HP:0001480
1161	ERCC8	Anhidrosis	HP:0000970
1161	ERCC8	Square pelvis bone	HP:0003278
1161	ERCC8	Opacification of the corneal stroma	HP:0007759
1161	ERCC8	Progeroid facial appearance	HP:0005328
1161	ERCC8	Splenomegaly	HP:0001744
1161	ERCC8	Renal insufficiency	HP:0000083
1161	ERCC8	Dementia	HP:0000726
1161	ERCC8	Basal ganglia calcification	HP:0002135
1161	ERCC8	Menstrual irregularities	HP:0000858
1161	ERCC8	Atypical scarring of skin	HP:0000987
1161	ERCC8	Proteinuria	HP:0000093
1161	ERCC8	Dry hair	HP:0011359
1161	ERCC8	Limitation of joint mobility	HP:0001376
1161	ERCC8	Cutaneous photosensitivity	HP:0000992
1161	ERCC8	Intellectual disability	HP:0001249
1161	ERCC8	Seizures	HP:0001250
1161	ERCC8	Ataxia	HP:0001251
1161	ERCC8	Strabismus	HP:0000486
1161	ERCC8	Intrauterine growth retardation	HP:0001511
1161	ERCC8	Abnormality of skin pigmentation	HP:0001000
1161	ERCC8	Dysarthria	HP:0001260
1161	ERCC8	Patchy demyelination of subcortical white matter	HP:0002545
1161	ERCC8	Polyneuropathy	HP:0001271
1161	ERCC8	Kyphosis	HP:0002808
1161	ERCC8	Decreased lacrimation	HP:0000633
1161	ERCC8	Abnormality of the pinna	HP:0000377
1161	ERCC8	Decreased nerve conduction velocity	HP:0000762
1161	ERCC8	Ivory epiphyses of the phalanges of the hand	HP:0010234
1161	ERCC8	Microcephaly	HP:0000252
1161	ERCC8	Thickened calvaria	HP:0002684
1161	ERCC8	Nystagmus	HP:0000639
58508	KMT2C	Intellectual disability	HP:0001249
58508	KMT2C	Seizures	HP:0001250
58508	KMT2C	Kyphosis	HP:0002808
58508	KMT2C	Scoliosis	HP:0002650
58508	KMT2C	Delayed speech and language development	HP:0000750
58508	KMT2C	Global developmental delay	HP:0001263
58508	KMT2C	Abnormal facial shape	HP:0001999
58513	EPS15L1	Absent hand	HP:0004050
58513	EPS15L1	Split hand	HP:0001171
58513	EPS15L1	Finger syndactyly	HP:0006101
58513	EPS15L1	Oligodactyly	HP:0012165
58513	EPS15L1	Sensorineural hearing impairment	HP:0000407
58513	EPS15L1	Aniridia	HP:0000526
9361	LONP1	Omphalocele	HP:0001539
9361	LONP1	Brachydactyly	HP:0001156
9361	LONP1	Cataract	HP:0000518
9361	LONP1	Autosomal recessive inheritance	HP:0000007
9361	LONP1	Developmental cataract	HP:0000519
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	Lumbar scoliosis	HP:0004626
9361	LONP1	Conductive hearing impairment	HP:0000405
9361	LONP1	Sensorineural hearing impairment	HP:0000407
9361	LONP1	Proximal placement of thumb	HP:0009623
9361	LONP1	Hypoplasia of dental enamel	HP:0006297
9361	LONP1	Polyhydramnios	HP:0001561
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 dental enamel	HP:0000682
9361	LONP1	Abnormality of epiphysis morphology	HP:0005930
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	Ventriculomegaly	HP:0002119
9361	LONP1	Hydroureter	HP:0000072
9361	LONP1	Generalized joint laxity	HP:0002761
9361	LONP1	Short phalanx of finger	HP:0009803
9361	LONP1	Anteverted nares	HP:0000463
9361	LONP1	Flat face	HP:0012368
9361	LONP1	Absent epiphyses	HP:0010577
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	Intellectual disability	HP:0001249
9361	LONP1	Short stature	HP:0004322
9361	LONP1	Seizures	HP:0001250
9361	LONP1	Muscular hypotonia	HP:0001252
9361	LONP1	Gastroesophageal reflux	HP:0002020
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	Motor delay	HP:0001270
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
9364	RAB28	Foveal hyperpigmentation	HP:0008001
9364	RAB28	Foveal atrophy	HP:0025010
9364	RAB28	Cone/cone-rod dystrophy	HP:0000548
9364	RAB28	Photophobia	HP:0000613
9364	RAB28	Nyctalopia	HP:0000662
9364	RAB28	Color vision defect	HP:0000551
9364	RAB28	Abnormality of retinal pigmentation	HP:0007703
9364	RAB28	Autosomal recessive inheritance	HP:0000007
9364	RAB28	Visual impairment	HP:0000505
9364	RAB28	High myopia	HP:0011003
9364	RAB28	Central scotoma	HP:0000603
1174	AP1S1	Ichthyosis	HP:0008064
1174	AP1S1	Intellectual disability	HP:0001249
1174	AP1S1	Abnormal intestine morphology	HP:0002242
1174	AP1S1	Hyperkeratosis	HP:0000962
1174	AP1S1	Cataract	HP:0000518
1174	AP1S1	Upslanted palpebral fissure	HP:0000582
1174	AP1S1	Peripheral neuropathy	HP:0009830
1174	AP1S1	Growth delay	HP:0001510
1174	AP1S1	Autosomal recessive inheritance	HP:0000007
1174	AP1S1	Generalized hypotonia	HP:0001290
1174	AP1S1	Hearing impairment	HP:0000365
1174	AP1S1	Global developmental delay	HP:0001263
1174	AP1S1	Cirrhosis	HP:0001394
1174	AP1S1	Hepatic fibrosis	HP:0001395
1174	AP1S1	Cholestasis	HP:0001396
1174	AP1S1	Decreased serum ceruloplasmin	HP:0010837
1174	AP1S1	Congenital onset	HP:0003577
1174	AP1S1	High forehead	HP:0000348
1174	AP1S1	Diarrhea	HP:0002014
1174	AP1S1	Intrahepatic cholestasis	HP:0001406
1174	AP1S1	Erythema	HP:0010783
1174	AP1S1	Decreased circulating copper concentration	HP:0011967
1175	AP2S1	Hypercalcemia	HP:0003072
1175	AP2S1	Hypophosphatemia	HP:0002148
1175	AP2S1	Pancreatitis	HP:0001733
1175	AP2S1	Chondrocalcinosis	HP:0000934
1175	AP2S1	Autosomal dominant inheritance	HP:0000006
1175	AP2S1	Hypermagnesemia	HP:0002918
1175	AP2S1	Primary hyperparathyroidism	HP:0008200
1175	AP2S1	Parathormone-independent increased renal tubular calcium reabsorption	HP:0003529
1175	AP2S1	Headache	HP:0002315
1175	AP2S1	Muscle weakness	HP:0001324
1175	AP2S1	Depressivity	HP:0000716
1175	AP2S1	Peptic ulcer	HP:0004398
1175	AP2S1	Nephrolithiasis	HP:0000787
1175	AP2S1	Multiple small medullary renal cysts	HP:0008659
1175	AP2S1	Renal insufficiency	HP:0000083
1175	AP2S1	Multiple lipomas	HP:0001012
1175	AP2S1	Hypocalciuria	HP:0003127
1175	AP2S1	Fatigue	HP:0012378
1175	AP2S1	Bone pain	HP:0002653
1175	AP2S1	Osteomalacia	HP:0002749
9368	SLC9A3R1	Nephrolithiasis	HP:0000787
9368	SLC9A3R1	Increased susceptibility to fractures	HP:0002659
9368	SLC9A3R1	Hypophosphatemia	HP:0002148
9368	SLC9A3R1	Renal phosphate wasting	HP:0000117
9368	SLC9A3R1	Hyperphosphaturia	HP:0003109
9368	SLC9A3R1	Autosomal dominant inheritance	HP:0000006
9368	SLC9A3R1	Osteopenia	HP:0000938
9368	SLC9A3R1	Osteoporosis	HP:0000939
1180	CLCN1	Skeletal muscle hypertrophy	HP:0003712
1180	CLCN1	Muscle stiffness	HP:0003552
1180	CLCN1	EMG abnormality	HP:0003457
1180	CLCN1	Handgrip myotonia	HP:0012899
1180	CLCN1	Lid lag on downgaze	HP:0025605
1180	CLCN1	Autosomal dominant inheritance	HP:0000006
1180	CLCN1	Childhood onset	HP:0011463
1180	CLCN1	Autosomal recessive inheritance	HP:0000007
1180	CLCN1	Muscle hypertrophy of the lower extremities	HP:0008968
1180	CLCN1	Muscle weakness	HP:0001324
1180	CLCN1	EMG: myotonic runs	HP:0003730
1180	CLCN1	Percussion myotonia	HP:0010548
1180	CLCN1	Myotonia	HP:0002486
1180	CLCN1	Myotonia with warm-up phenomenon	HP:0003740
1180	CLCN1	Myalgia	HP:0003326
1180	CLCN1	Dysphagia	HP:0002015
58524	DMRT3	Elevated circulating luteinizing hormone level	HP:0011969
58524	DMRT3	Primary gonadal insufficiency	HP:0008193
58524	DMRT3	Gynecomastia	HP:0000771
58524	DMRT3	Gonadal dysgenesis	HP:0000133
58524	DMRT3	Vanishing testis	HP:0012870
58524	DMRT3	Adrenal insufficiency	HP:0000846
58524	DMRT3	Primary amenorrhea	HP:0000786
58524	DMRT3	Abnormal sex determination	HP:0012244
58524	DMRT3	Ovarian gonadoblastoma	HP:0000149
58524	DMRT3	Hypoplasia of the vagina	HP:0008726
58524	DMRT3	Decreased serum estradiol	HP:0008214
58524	DMRT3	Abnormality of cardiovascular system morphology	HP:0030680
58524	DMRT3	Clitoral hypertrophy	HP:0008665
58524	DMRT3	Female external genitalia in individual with 46,XY karyotype	HP:0008730
58524	DMRT3	Azoospermia	HP:0000027
58524	DMRT3	Cryptorchidism	HP:0000028
58524	DMRT3	Decreased testicular size	HP:0008734
58524	DMRT3	Testicular gonadoblastoma	HP:0000030
58524	DMRT3	Streak ovary	HP:0010464
58524	DMRT3	Decreased fertility in females	HP:0000868
58524	DMRT3	Nephrotic syndrome	HP:0000100
58524	DMRT3	Sparse axillary hair	HP:0002215
58524	DMRT3	Elevated circulating follicle stimulating hormone level	HP:0008232
58524	DMRT3	Urogenital sinus anomaly	HP:0100779
58524	DMRT3	Nephroblastoma	HP:0002667
58524	DMRT3	Osteoporosis	HP:0000939
58524	DMRT3	Decreased serum testosterone level	HP:0040171
58524	DMRT3	Abnormality of the scrotum	HP:0000045
58524	DMRT3	Hypospadias	HP:0000047
58524	DMRT3	Hypergonadotropic hypogonadism	HP:0000815
58524	DMRT3	Sparse pubic hair	HP:0002225
58524	DMRT3	Male infertility	HP:0003251
58524	DMRT3	Micropenis	HP:0000054
58524	DMRT3	Delayed puberty	HP:0000823
58524	DMRT3	Abnormality of the labia	HP:0000058
58524	DMRT3	Absence of secondary sex characteristics	HP:0008187
58524	DMRT3	Ambiguous genitalia	HP:0000062
58524	DMRT3	Delayed skeletal maturation	HP:0002750
9373	PLAA	Pectus carinatum	HP:0000768
9373	PLAA	Bulbar palsy	HP:0001283
9373	PLAA	Central hypotonia	HP:0011398
9373	PLAA	Optic atrophy	HP:0000648
9373	PLAA	Postaxial hand polydactyly	HP:0001162
9373	PLAA	Rigidity	HP:0002063
9373	PLAA	Contractures of the large joints	HP:0005781
9373	PLAA	Sensorineural hearing impairment	HP:0000407
9373	PLAA	Hypoplasia of the corpus callosum	HP:0002079
9373	PLAA	Delayed myelination	HP:0012448
9373	PLAA	Postaxial polydactyly	HP:0100259
9373	PLAA	Hyperextensibility of the finger joints	HP:0001187
9373	PLAA	Postaxial foot polydactyly	HP:0001830
9373	PLAA	Respiratory insufficiency	HP:0002093
9373	PLAA	Progressive spastic quadriplegia	HP:0002478
9373	PLAA	Rocker bottom foot	HP:0001838
9373	PLAA	Leukoencephalopathy	HP:0002352
9373	PLAA	Bulbar signs	HP:0002483
9373	PLAA	Tented upper lip vermilion	HP:0010804
9373	PLAA	Dystonia	HP:0001332
9373	PLAA	Apnea	HP:0002104
9373	PLAA	Single transverse palmar crease	HP:0000954
9373	PLAA	Impaired oropharyngeal swallow response	HP:0031162
9373	PLAA	Smooth philtrum	HP:0000319
9373	PLAA	Feeding difficulties	HP:0011968
9373	PLAA	Edema of the dorsum of feet	HP:0012098
9373	PLAA	Progressive leukoencephalopathy	HP:0006980
9373	PLAA	Long fingers	HP:0100807
9373	PLAA	Ventriculomegaly	HP:0002119
9373	PLAA	Cerebral cortical atrophy	HP:0002120
9373	PLAA	Edema	HP:0000969
9373	PLAA	Limb hypertonia	HP:0002509
9373	PLAA	Abnormal facial shape	HP:0001999
9373	PLAA	Hyperhidrosis	HP:0000975
9373	PLAA	Hypomimic face	HP:0000338
9373	PLAA	Cerebellar cortical atrophy	HP:0008278
9373	PLAA	Long philtrum	HP:0000343
9373	PLAA	Hypsarrhythmia	HP:0002521
9373	PLAA	High palate	HP:0000218
9373	PLAA	Cerebral white matter atrophy	HP:0012762
9373	PLAA	Edema of the dorsum of hands	HP:0007514
9373	PLAA	Exaggerated startle response	HP:0002267
9373	PLAA	Micrognathia	HP:0000347
9373	PLAA	Dysphagia	HP:0002015
9373	PLAA	Intellectual disability	HP:0001249
9373	PLAA	Seizures	HP:0001250
9373	PLAA	Failure to thrive	HP:0001508
9373	PLAA	Posteriorly rotated ears	HP:0000358
9373	PLAA	Abnormal cortical gyration	HP:0002536
9373	PLAA	Delayed speech and language development	HP:0000750
9373	PLAA	Hirsutism	HP:0001007
9373	PLAA	Global developmental delay	HP:0001263
9373	PLAA	Low-set, posteriorly rotated ears	HP:0000368
9373	PLAA	Poor suck	HP:0002033
9373	PLAA	Low-set ears	HP:0000369
9373	PLAA	Variable expressivity	HP:0003828
9373	PLAA	Kyphosis	HP:0002808
9373	PLAA	Congenital onset	HP:0003577
9373	PLAA	Short nose	HP:0003196
9373	PLAA	Microcephaly	HP:0000252
9373	PLAA	Hypertonia	HP:0001276
9373	PLAA	Nystagmus	HP:0000639
1181	CLCN2	Visual field defect	HP:0001123
1181	CLCN2	Febrile seizures	HP:0002373
1181	CLCN2	Autosomal recessive inheritance	HP:0000007
1181	CLCN2	Photosensitive tonic-clonic seizures	HP:0007207
1181	CLCN2	Absence seizure	HP:0002121
1181	CLCN2	Headache	HP:0002315
1181	CLCN2	Aggressive behavior	HP:0000718
1181	CLCN2	Leukoencephalopathy	HP:0002352
1181	CLCN2	Abnormality of eye movement	HP:0000496
1181	CLCN2	Optic neuropathy	HP:0001138
1181	CLCN2	Gait ataxia	HP:0002066
1181	CLCN2	Abnormal chorioretinal morphology	HP:0000532
1181	CLCN2	Variable expressivity	HP:0003828
1181	CLCN2	Hypokalemia	HP:0002900
1181	CLCN2	Status epilepticus	HP:0002133
1181	CLCN2	Incomplete penetrance	HP:0003829
1181	CLCN2	Limb ataxia	HP:0002070
1181	CLCN2	Morning myoclonic jerks	HP:0007000
1181	CLCN2	EEG with polyspike wave complexes	HP:0002392
1181	CLCN2	Abnormality of the mouth	HP:0000153
1183	CLCN4	Absent speech	HP:0001344
1183	CLCN4	Behavioral abnormality	HP:0000708
1183	CLCN4	Epileptic encephalopathy	HP:0200134
1183	CLCN4	Bipolar affective disorder	HP:0007302
1183	CLCN4	Cerebral cortical atrophy	HP:0002120
1183	CLCN4	X-linked inheritance	HP:0001417
1183	CLCN4	Generalized hypotonia	HP:0001290
1183	CLCN4	X-linked recessive inheritance	HP:0001419
1183	CLCN4	Depressivity	HP:0000716
1183	CLCN4	Lower limb spasticity	HP:0002061
1183	CLCN4	Aggressive behavior	HP:0000718
1183	CLCN4	Obsessive-compulsive behavior	HP:0000722
1183	CLCN4	Long face	HP:0000276
1183	CLCN4	Coarse facial features	HP:0000280
1183	CLCN4	Midface retrusion	HP:0011800
1183	CLCN4	Autistic behavior	HP:0000729
1183	CLCN4	Progressive cerebellar ataxia	HP:0002073
1183	CLCN4	Scoliosis	HP:0002650
1183	CLCN4	Intellectual disability	HP:0001249
1183	CLCN4	Cerebral visual impairment	HP:0100704
1183	CLCN4	Seizures	HP:0001250
1183	CLCN4	Anxiety	HP:0000739
1183	CLCN4	Strabismus	HP:0000486
1183	CLCN4	Intellectual disability, mild	HP:0001256
1183	CLCN4	Downslanted palpebral fissures	HP:0000494
1183	CLCN4	Mandibular prognathia	HP:0000303
1183	CLCN4	Global developmental delay	HP:0001263
1184	CLCN5	Sparse bone trabeculae	HP:0002752
1184	CLCN5	Thin bony cortex	HP:0002753
1184	CLCN5	Glycosuria	HP:0003076
1184	CLCN5	Bulging epiphyses	HP:0003013
1184	CLCN5	Recurrent fractures	HP:0002757
1184	CLCN5	Fibular bowing	HP:0010502
1184	CLCN5	Tubulointerstitial fibrosis	HP:0005576
1184	CLCN5	X-linked recessive inheritance	HP:0001419
1184	CLCN5	Enlargement of the wrists	HP:0003020
1184	CLCN5	Chronic kidney disease	HP:0012622
1184	CLCN5	Increased serum 1,25-dihydroxyvitamin D3	HP:0003152
1184	CLCN5	Metaphyseal irregularity	HP:0003025
1184	CLCN5	Nephrolithiasis	HP:0000787
1184	CLCN5	Renal insufficiency	HP:0000083
1184	CLCN5	Enlargement of the ankles	HP:0003029
1184	CLCN5	Microscopic hematuria	HP:0002907
1184	CLCN5	Aminoaciduria	HP:0003355
1184	CLCN5	Tubular atrophy	HP:0000092
1184	CLCN5	Bone pain	HP:0002653
1184	CLCN5	Slow progression	HP:0003677
1184	CLCN5	Glomerulosclerosis	HP:0000096
1184	CLCN5	Focal segmental glomerulosclerosis	HP:0000097
1184	CLCN5	Short stature	HP:0004322
1184	CLCN5	Bowing of the legs	HP:0002979
1184	CLCN5	Hypophosphatemia	HP:0002148
1184	CLCN5	Femoral bowing	HP:0002980
1184	CLCN5	Hyperphosphaturia	HP:0003109
1184	CLCN5	Hypercalciuria	HP:0002150
1184	CLCN5	Tibial bowing	HP:0002982
1184	CLCN5	Delayed epiphyseal ossification	HP:0002663
1184	CLCN5	Hypophosphatemic rickets	HP:0004912
1184	CLCN5	Proximal tubulopathy	HP:0000114
1184	CLCN5	Renal phosphate wasting	HP:0000117
1184	CLCN5	Low-molecular-weight proteinuria	HP:0003126
1184	CLCN5	Nephrocalcinosis	HP:0000121
1184	CLCN5	Rickets	HP:0002748
1184	CLCN5	Osteomalacia	HP:0002749
1186	CLCN7	Macrocephaly	HP:0000256
1186	CLCN7	Abnormal blistering of the skin	HP:0008066
1186	CLCN7	Reticulocytosis	HP:0001923
1186	CLCN7	Otitis media	HP:0000388
1186	CLCN7	Abnormality of the ribs	HP:0000772
1186	CLCN7	Facial palsy	HP:0010628
1186	CLCN7	Avascular necrosis	HP:0010885
1186	CLCN7	Narrow chest	HP:0000774
1186	CLCN7	Autosomal dominant inheritance	HP:0000006
1186	CLCN7	Autosomal recessive inheritance	HP:0000007
1186	CLCN7	Optic atrophy	HP:0000648
1186	CLCN7	Abnormality of visual evoked potentials	HP:0000649
1186	CLCN7	Hip osteoarthritis	HP:0008843
1186	CLCN7	Abnormality of the metacarpal bones	HP:0001163
1186	CLCN7	Fractures of the long bones	HP:0003084
1186	CLCN7	Heterogeneous	HP:0001425
1186	CLCN7	Abnormality of temperature regulation	HP:0004370
1186	CLCN7	Bone marrow hypocellularity	HP:0005528
1186	CLCN7	Hepatosplenomegaly	HP:0001433
1186	CLCN7	Short distal phalanx of finger	HP:0009882
1186	CLCN7	Lymphadenopathy	HP:0002716
1186	CLCN7	Recurrent respiratory infections	HP:0002205
1186	CLCN7	Generalized osteosclerosis	HP:0005789
1186	CLCN7	Carious teeth	HP:0000670
1186	CLCN7	Optic disc pallor	HP:0000543
1186	CLCN7	Juvenile onset	HP:0003621
1186	CLCN7	Cranial nerve paralysis	HP:0006824
1186	CLCN7	Facial paralysis	HP:0007209
1186	CLCN7	Genu valgum	HP:0002857
1186	CLCN7	Abnormality of epiphysis morphology	HP:0005930
1186	CLCN7	Pulmonary arterial hypertension	HP:0002092
1186	CLCN7	Delayed eruption of teeth	HP:0000684
1186	CLCN7	Opsoclonus	HP:0010543
1186	CLCN7	Abnormality of the metaphysis	HP:0000944
1186	CLCN7	Premature loss of primary teeth	HP:0006323
1186	CLCN7	Apnea	HP:0002104
1186	CLCN7	Tremor	HP:0001337
1186	CLCN7	Visual loss	HP:0000572
1186	CLCN7	Pulmonary artery stenosis	HP:0004415
1186	CLCN7	Hepatomegaly	HP:0002240
1186	CLCN7	Recurrent fractures	HP:0002757
1186	CLCN7	Osteoarthritis	HP:0002758
1186	CLCN7	Mandibular osteomyelitis	HP:0007626
1186	CLCN7	Elevated serum acid phosphatase	HP:0003148
1186	CLCN7	Splenomegaly	HP:0001744
1186	CLCN7	Chronic rhinitis	HP:0002257
1186	CLCN7	Thrombocytopenia	HP:0001873
1186	CLCN7	Bruising susceptibility	HP:0000978
1186	CLCN7	Craniosynostosis	HP:0001363
1186	CLCN7	Pallor	HP:0000980
1186	CLCN7	Abnormality of pelvic girdle bone morphology	HP:0002644
1186	CLCN7	Hypocalcemia	HP:0002901
1186	CLCN7	Bowing of the long bones	HP:0006487
1186	CLCN7	Frontal bossing	HP:0002007
1186	CLCN7	Abnormal leukocyte morphology	HP:0001881
1186	CLCN7	Bone pain	HP:0002653
1186	CLCN7	Joint dislocation	HP:0001373
1186	CLCN7	Abnormality of hair texture	HP:0010719
1186	CLCN7	Sclerotic vertebral endplates	HP:0004576
1186	CLCN7	Short stature	HP:0004322
1186	CLCN7	Hypophosphatemia	HP:0002148
1186	CLCN7	Growth delay	HP:0001510
1186	CLCN7	Abnormal pulmonary valve morphology	HP:0001641
1186	CLCN7	Blindness	HP:0000618
1186	CLCN7	Hearing impairment	HP:0000365
1186	CLCN7	Hydrocephalus	HP:0000238
1186	CLCN7	Anemia	HP:0001903
1186	CLCN7	Abnormality of the vertebral endplates	HP:0005106
1186	CLCN7	Visual impairment	HP:0000505
1186	CLCN7	Osteopetrosis	HP:0011002
1186	CLCN7	Reduced bone mineral density	HP:0004349
1186	CLCN7	Nystagmus	HP:0000639
1186	CLCN7	Optic nerve compression	HP:0007807
9378	NRXN1	Feeding difficulties	HP:0011968
9378	NRXN1	Hyperventilation	HP:0002883
9378	NRXN1	Drooling	HP:0002307
9378	NRXN1	Constipation	HP:0002019
9378	NRXN1	Gastroesophageal reflux	HP:0002020
9378	NRXN1	Epileptic encephalopathy	HP:0200134
9378	NRXN1	Strabismus	HP:0000486
9378	NRXN1	Autosomal recessive inheritance	HP:0000007
9378	NRXN1	Developmental regression	HP:0002376
9378	NRXN1	Generalized hypotonia	HP:0001290
9378	NRXN1	Pulmonic stenosis	HP:0001642
9378	NRXN1	Intellectual disability, severe	HP:0010864
9378	NRXN1	Broad-based gait	HP:0002136
9378	NRXN1	Protruding tongue	HP:0010808
9378	NRXN1	Wide mouth	HP:0000154
9378	NRXN1	Scoliosis	HP:0002650
1187	CLCNKA	Edema	HP:0000969
1187	CLCNKA	Increased urinary potassium	HP:0003081
1187	CLCNKA	Generalized hypotonia	HP:0001290
1187	CLCNKA	Heterogeneous	HP:0001425
1187	CLCNKA	Renal insufficiency	HP:0000083
1187	CLCNKA	Hypokalemia	HP:0002900
1187	CLCNKA	Hyponatremia	HP:0002902
1187	CLCNKA	Premature birth	HP:0001622
1187	CLCNKA	Sensorineural hearing impairment	HP:0000407
1187	CLCNKA	Polyhydramnios	HP:0001561
1187	CLCNKA	Hyperaldosteronism	HP:0000859
1187	CLCNKA	Fetal polyuria	HP:0001563
1187	CLCNKA	Intellectual disability	HP:0001249
1187	CLCNKA	Hyperchloriduria	HP:0002914
1187	CLCNKA	Failure to thrive	HP:0001508
1187	CLCNKA	Muscular hypotonia	HP:0001252
1187	CLCNKA	Polyuria	HP:0000103
1187	CLCNKA	Hypochloremia	HP:0003113
1187	CLCNKA	Hypokalemic hypochloremic metabolic alkalosis	HP:0004909
1187	CLCNKA	Hyporeflexia	HP:0001265
1187	CLCNKA	Decreased glomerular filtration rate	HP:0012213
1187	CLCNKA	Motor delay	HP:0001270
1187	CLCNKA	Congenital onset	HP:0003577
1187	CLCNKA	Hypernatriuria	HP:0012605
1187	CLCNKA	Renal salt wasting	HP:0000127
1188	CLCNKB	Renal potassium wasting	HP:0000128
1188	CLCNKB	Autosomal recessive inheritance	HP:0000007
1188	CLCNKB	Hyperactive renin-angiotensin system	HP:0000841
1188	CLCNKB	Increased urinary potassium	HP:0003081
1188	CLCNKB	Edema	HP:0000969
1188	CLCNKB	Generalized hypotonia	HP:0001290
1188	CLCNKB	Impaired reabsorption of chloride	HP:0005579
1188	CLCNKB	Abnormal sclera morphology	HP:0000591
1188	CLCNKB	Increased circulating renin level	HP:0000848
1188	CLCNKB	Heterogeneous	HP:0001425
1188	CLCNKB	Renal insufficiency	HP:0000083
1188	CLCNKB	Hypokalemia	HP:0002900
1188	CLCNKB	Hyponatremia	HP:0002902
1188	CLCNKB	Premature birth	HP:0001622
1188	CLCNKB	Sensorineural hearing impairment	HP:0000407
1188	CLCNKB	Dehydration	HP:0001944
1188	CLCNKB	Polyhydramnios	HP:0001561
1188	CLCNKB	Hyperaldosteronism	HP:0000859
1188	CLCNKB	Fetal polyuria	HP:0001563
1188	CLCNKB	Intellectual disability	HP:0001249
1188	CLCNKB	Abnormal choroid morphology	HP:0000610
1188	CLCNKB	Hyperchloriduria	HP:0002914
1188	CLCNKB	Failure to thrive	HP:0001508
1188	CLCNKB	Muscular hypotonia	HP:0001252
1188	CLCNKB	Polyuria	HP:0000103
1188	CLCNKB	Hypokalemic metabolic alkalosis	HP:0001960
1188	CLCNKB	Hypochloremia	HP:0003113
1188	CLCNKB	Hypokalemic hypochloremic metabolic alkalosis	HP:0004909
1188	CLCNKB	Abnormal retinal vascular morphology	HP:0008046
1188	CLCNKB	Hyporeflexia	HP:0001265
1188	CLCNKB	Decreased glomerular filtration rate	HP:0012213
1188	CLCNKB	Motor delay	HP:0001270
1188	CLCNKB	Hypotension	HP:0002615
1188	CLCNKB	Hypocalciuria	HP:0003127
1188	CLCNKB	Congenital onset	HP:0003577
1188	CLCNKB	Generalized muscle weakness	HP:0003324
1188	CLCNKB	Hypernatriuria	HP:0012605
1188	CLCNKB	Renal salt wasting	HP:0000127
9380	GRHPR	Calcium oxalate nephrolithiasis	HP:0008672
9380	GRHPR	Ureteral obstruction	HP:0006000
9380	GRHPR	Renal insufficiency	HP:0000083
9380	GRHPR	Nephrolithiasis	HP:0000787
9380	GRHPR	Variable expressivity	HP:0003828
9380	GRHPR	Hematuria	HP:0000790
9380	GRHPR	Hyperoxaluria	HP:0003159
9380	GRHPR	Autosomal recessive inheritance	HP:0000007
9380	GRHPR	Nephrocalcinosis	HP:0000121
9380	GRHPR	Recurrent urinary tract infections	HP:0000010
9380	GRHPR	Aminoaciduria	HP:0003355
9381	OTOF	Absence of acoustic reflex	HP:0008529
9381	OTOF	Sensorineural hearing impairment	HP:0000407
9381	OTOF	Autosomal recessive inheritance	HP:0000007
9381	OTOF	Absent brainstem auditory responses	HP:0004463
9382	COG1	Delayed ability to walk	HP:0031936
9382	COG1	Postnatal growth retardation	HP:0008897
9382	COG1	Abnormality of the ribs	HP:0000772
9382	COG1	Upslanted palpebral fissure	HP:0000582
9382	COG1	Autosomal recessive inheritance	HP:0000007
9382	COG1	Pierre-Robin sequence	HP:0000201
9382	COG1	Rhizomelia	HP:0008905
9382	COG1	Cerebral atrophy	HP:0002059
9382	COG1	Abnormal facial shape	HP:0001999
9382	COG1	Anteverted nares	HP:0000463
9382	COG1	Thrombocytopenia	HP:0001873
9382	COG1	Renal insufficiency	HP:0000083
9382	COG1	Abnormal isoelectric focusing of serum transferrin	HP:0003160
9382	COG1	Midface retrusion	HP:0011800
9382	COG1	Scoliosis	HP:0002650
9382	COG1	High palate	HP:0000218
9382	COG1	Thin upper lip vermilion	HP:0000219
9382	COG1	Micrognathia	HP:0000347
9382	COG1	Cryptorchidism	HP:0000028
9382	COG1	Vertebral segmentation defect	HP:0003422
9382	COG1	Camptodactyly	HP:0012385
9382	COG1	Talipes equinovarus	HP:0001762
9382	COG1	Muscular hypotonia	HP:0001252
9382	COG1	Microtia	HP:0008551
9382	COG1	Intrauterine growth retardation	HP:0001511
9382	COG1	Osteopenia	HP:0000938
9382	COG1	Hearing impairment	HP:0000365
9382	COG1	Short foot	HP:0001773
9382	COG1	Delayed speech and language development	HP:0000750
9382	COG1	Downslanted palpebral fissures	HP:0000494
9382	COG1	Hypospadias	HP:0000047
9382	COG1	Anemia	HP:0001903
9382	COG1	Global developmental delay	HP:0001263
9382	COG1	Wide nasal bridge	HP:0000431
9382	COG1	Cleft palate	HP:0000175
9382	COG1	Low-set, posteriorly rotated ears	HP:0000368
9382	COG1	Butterfly vertebrae	HP:0003316
9382	COG1	Small hand	HP:0200055
9382	COG1	Cerebellar atrophy	HP:0001272
9382	COG1	Failure to thrive in infancy	HP:0001531
9382	COG1	Hypertelorism	HP:0000316
9382	COG1	Progressive microcephaly	HP:0000253
9382	COG1	Hydronephrosis	HP:0000126
9382	COG1	Smooth philtrum	HP:0000319
1193	CLIC2	Absent speech	HP:0001344
1193	CLIC2	Seizures	HP:0001250
1193	CLIC2	Congestive heart failure	HP:0001635
1193	CLIC2	Cardiomegaly	HP:0001640
1193	CLIC2	Spasticity	HP:0001257
1193	CLIC2	Intellectual disability, profound	HP:0002187
1193	CLIC2	X-linked recessive inheritance	HP:0001419
1193	CLIC2	Atrial flutter	HP:0004749
1193	CLIC2	Hydrocephalus	HP:0000238
1193	CLIC2	Global developmental delay	HP:0001263
1193	CLIC2	Macrotia	HP:0000400
1193	CLIC2	Contractures of the large joints	HP:0005781
1193	CLIC2	Macroorchidism	HP:0000053
1193	CLIC2	Kyphoscoliosis	HP:0002751
1200	TPP1	Saccadic smooth pursuit	HP:0001152
1200	TPP1	Dysmetric saccades	HP:0000641
1200	TPP1	Hyperreflexia	HP:0001347
1200	TPP1	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003205
1200	TPP1	Autosomal recessive inheritance	HP:0000007
1200	TPP1	Increased extraneuronal autofluorescent lipopigment	HP:0003463
1200	TPP1	Clumsiness	HP:0002312
1200	TPP1	Progressive gait ataxia	HP:0007240
1200	TPP1	Developmental regression	HP:0002376
1200	TPP1	Diplopia	HP:0000651
1200	TPP1	Cerebral atrophy	HP:0002059
1200	TPP1	Oculomotor apraxia	HP:0000657
1200	TPP1	Progressive visual loss	HP:0000529
1200	TPP1	Gait ataxia	HP:0002066
1200	TPP1	Limb ataxia	HP:0002070
1200	TPP1	Broad-based gait	HP:0002136
1200	TPP1	Progressive cerebellar ataxia	HP:0002073
1200	TPP1	Horizontal nystagmus	HP:0000666
1200	TPP1	Increased neuronal autofluorescent lipopigment	HP:0002074
1200	TPP1	Slow progression	HP:0003677
1200	TPP1	Dysmetria	HP:0001310
1200	TPP1	Babinski sign	HP:0003487
1200	TPP1	Abnormal nervous system electrophysiology	HP:0001311
1200	TPP1	Seizures	HP:0001250
1200	TPP1	Retinal degeneration	HP:0000546
1200	TPP1	Ataxia	HP:0001251
1200	TPP1	Juvenile onset	HP:0003621
1200	TPP1	Undetectable electroretinogram	HP:0000550
1200	TPP1	Hypermetric saccades	HP:0007338
1200	TPP1	Dysarthria	HP:0001260
1200	TPP1	Delayed speech and language development	HP:0000750
1200	TPP1	Difficulty walking	HP:0002355
1200	TPP1	EMG: neuropathic changes	HP:0003445
1200	TPP1	Cerebellar atrophy	HP:0001272
1200	TPP1	Scanning speech	HP:0002168
1200	TPP1	Myoclonus	HP:0001336
1200	TPP1	Postural tremor	HP:0002174
1200	TPP1	Impaired vibratory sensation	HP:0002495
1200	TPP1	Nystagmus	HP:0000639
1201	CLN3	Vacuolated lymphocytes	HP:0001922
1201	CLN3	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003205
1201	CLN3	Psychosis	HP:0000709
1201	CLN3	Cataract	HP:0000518
1201	CLN3	Increased extraneuronal autofluorescent lipopigment	HP:0003463
1201	CLN3	Autosomal recessive inheritance	HP:0000007
1201	CLN3	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	HP:0003208
1201	CLN3	Optic atrophy	HP:0000648
1201	CLN3	Progressive inability to walk	HP:0002505
1201	CLN3	Cerebral atrophy	HP:0002059
1201	CLN3	Progressive visual loss	HP:0000529
1201	CLN3	Parkinsonism	HP:0001300
1201	CLN3	Dementia	HP:0000726
1201	CLN3	Increased neuronal autofluorescent lipopigment	HP:0002074
1201	CLN3	Macular degeneration	HP:0000608
1201	CLN3	Intellectual disability	HP:0001249
1201	CLN3	Seizures	HP:0001250
1201	CLN3	Anxiety	HP:0000739
1201	CLN3	Concentric hypertrophic cardiomyopathy	HP:0005157
1201	CLN3	Abnormal cerebellum morphology	HP:0001317
1201	CLN3	Undetectable electroretinogram	HP:0000550
1201	CLN3	Blindness	HP:0000618
1201	CLN3	Dysarthria	HP:0001260
1201	CLN3	Glaucoma	HP:0000501
1201	CLN3	Myoclonus	HP:0001336
1201	CLN3	Psychomotor deterioration	HP:0002361
1201	CLN3	Rod-cone dystrophy	HP:0000510
25778	DSTYK	Hyperreflexia	HP:0001347
25778	DSTYK	Autosomal dominant inheritance	HP:0000006
25778	DSTYK	Autosomal recessive inheritance	HP:0000007
25778	DSTYK	Ureteropelvic junction obstruction	HP:0000074
25778	DSTYK	Hip dislocation	HP:0002827
25778	DSTYK	Vesicoureteral reflux	HP:0000076
25778	DSTYK	Spastic gait	HP:0002064
25778	DSTYK	Hyperpigmentation in sun-exposed areas	HP:0005586
25778	DSTYK	Narrow face	HP:0000275
25778	DSTYK	Waddling gait	HP:0002515
25778	DSTYK	Vitiligo	HP:0001045
25778	DSTYK	Horseshoe kidney	HP:0000085
25778	DSTYK	Retrognathia	HP:0000278
25778	DSTYK	Micrognathia	HP:0000347
25778	DSTYK	Bowel urgency	HP:0012701
25778	DSTYK	Babinski sign	HP:0003487
25778	DSTYK	Short stature	HP:0004322
25778	DSTYK	Seizures	HP:0001250
25778	DSTYK	Premature graying of body hair	HP:0004771
25778	DSTYK	Peripheral neuropathy	HP:0009830
25778	DSTYK	Spastic paraplegia	HP:0001258
25778	DSTYK	Silver-gray hair	HP:0002218
25778	DSTYK	Multiple lentigines	HP:0001003
25778	DSTYK	Lower limb muscle weakness	HP:0007340
25778	DSTYK	Bowel incontinence	HP:0002607
25778	DSTYK	Incomplete penetrance	HP:0003829
25778	DSTYK	Congenital onset	HP:0003577
25778	DSTYK	Microcephaly	HP:0000252
25778	DSTYK	Stage 5 chronic kidney disease	HP:0003774
25778	DSTYK	Cognitive impairment	HP:0100543
25778	DSTYK	Kyphoscoliosis	HP:0002751
9394	HS6ST1	Ichthyosis	HP:0008064
9394	HS6ST1	Abnormality of body height	HP:0000002
9394	HS6ST1	Gynecomastia	HP:0000771
9394	HS6ST1	Absence of pubertal development	HP:0008197
9394	HS6ST1	Female hypogonadism	HP:0000134
9394	HS6ST1	Gait disturbance	HP:0001288
9394	HS6ST1	Hypoplasia of the uterus	HP:0000013
9394	HS6ST1	Decreased fertility	HP:0000144
9394	HS6ST1	Primary amenorrhea	HP:0000786
9394	HS6ST1	Hypoplasia of the ovary	HP:0008724
9394	HS6ST1	Sensorineural hearing impairment	HP:0000407
9394	HS6ST1	Male hypogonadism	HP:0000026
9394	HS6ST1	Cryptorchidism	HP:0000028
9394	HS6ST1	Decreased testicular size	HP:0008734
9394	HS6ST1	Erectile abnormalities	HP:0100639
9394	HS6ST1	Depressed nasal bridge	HP:0005280
9394	HS6ST1	Impotence	HP:0000802
9394	HS6ST1	Abnormality of the dentition	HP:0000164
9394	HS6ST1	Color vision defect	HP:0000551
9394	HS6ST1	Osteopenia	HP:0000938
9394	HS6ST1	Osteoporosis	HP:0000939
9394	HS6ST1	Hypogonadotrophic hypogonadism	HP:0000044
9394	HS6ST1	Muscle weakness	HP:0001324
9394	HS6ST1	Cleft palate	HP:0000175
9394	HS6ST1	Micropenis	HP:0000054
9394	HS6ST1	Paraplegia	HP:0010550
9394	HS6ST1	Delayed puberty	HP:0000823
9394	HS6ST1	Bimanual synkinesia	HP:0001335
9394	HS6ST1	Sparse body hair	HP:0002231
9394	HS6ST1	Tremor	HP:0001337
9394	HS6ST1	Hyposmia	HP:0004409
9394	HS6ST1	Non-obstructive azoospermia	HP:0011961
9394	HS6ST1	Hypertelorism	HP:0000316
9394	HS6ST1	Delayed skeletal maturation	HP:0002750
9394	HS6ST1	Anterior hypopituitarism	HP:0000830
9394	HS6ST1	Dyspareunia	HP:0030016
9394	HS6ST1	Increased female libido	HP:0030019
9394	HS6ST1	Recurrent fractures	HP:0002757
9394	HS6ST1	Eunuchoid habitus	HP:0003782
9394	HS6ST1	Abnormality of the voice	HP:0001608
9394	HS6ST1	Generalized joint laxity	HP:0002761
9394	HS6ST1	Anosmia	HP:0000458
9394	HS6ST1	Reduced number of teeth	HP:0009804
9394	HS6ST1	Depressivity	HP:0000716
9394	HS6ST1	Congenital sensorineural hearing impairment	HP:0008527
9394	HS6ST1	Wide intermamillary distance	HP:0006610
9394	HS6ST1	Abnormality of cardiovascular system morphology	HP:0030680
9394	HS6ST1	Skeletal dysplasia	HP:0002652
9394	HS6ST1	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
9394	HS6ST1	Pes cavus	HP:0001761
9394	HS6ST1	Camptodactyly	HP:0012385
9394	HS6ST1	Seizures	HP:0001250
9394	HS6ST1	Ataxia	HP:0001251
9394	HS6ST1	Pes planus	HP:0001763
9394	HS6ST1	Anxiety	HP:0000739
9394	HS6ST1	Muscular hypotonia	HP:0001252
9394	HS6ST1	Secondary amenorrhea	HP:0000869
9394	HS6ST1	Renal agenesis	HP:0000104
9394	HS6ST1	Obesity	HP:0001513
9394	HS6ST1	Decreased serum testosterone level	HP:0040171
9394	HS6ST1	Dysarthria	HP:0001260
9394	HS6ST1	Breast hypoplasia	HP:0003187
9394	HS6ST1	Visual impairment	HP:0000505
9394	HS6ST1	Absence of secondary sex characteristics	HP:0008187
9394	HS6ST1	Ptosis	HP:0000508
9394	HS6ST1	Reduced bone mineral density	HP:0004349
9394	HS6ST1	Nystagmus	HP:0000639
1203	CLN5	Intellectual disability	HP:0001249
1203	CLN5	Seizures	HP:0001250
1203	CLN5	Retinal degeneration	HP:0000546
1203	CLN5	Ataxia	HP:0001251
1203	CLN5	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003205
1203	CLN5	Autosomal recessive inheritance	HP:0000007
1203	CLN5	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	HP:0003208
1203	CLN5	Clumsiness	HP:0002312
1203	CLN5	Developmental regression	HP:0002376
1203	CLN5	Dysarthria	HP:0001260
1203	CLN5	Progressive visual loss	HP:0000529
1203	CLN5	Cerebellar atrophy	HP:0001272
1203	CLN5	Myoclonus	HP:0001336
1203	CLN5	Increased neuronal autofluorescent lipopigment	HP:0002074
1203	CLN5	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003226
1203	CLN5	Dysdiadochokinesis	HP:0002075
1203	CLN5	Motor deterioration	HP:0002333
1203	CLN5	Dysmetria	HP:0001310
1203	CLN5	Nystagmus	HP:0000639
1203	CLN5	Abnormal nervous system electrophysiology	HP:0001311
25782	RAB3GAP2	Pectus carinatum	HP:0000768
25782	RAB3GAP2	Cataract	HP:0000518
25782	RAB3GAP2	Autosomal recessive inheritance	HP:0000007
25782	RAB3GAP2	Developmental cataract	HP:0000519
25782	RAB3GAP2	Abnormality of the antihelix	HP:0009738
25782	RAB3GAP2	Malar flattening	HP:0000272
25782	RAB3GAP2	Pachygyria	HP:0001302
25782	RAB3GAP2	Abnormality of retinal pigmentation	HP:0007703
25782	RAB3GAP2	Midface retrusion	HP:0011800
25782	RAB3GAP2	Cryptorchidism	HP:0000028
25782	RAB3GAP2	Undetectable visual evoked potentials	HP:0007965
25782	RAB3GAP2	Epicanthus	HP:0000286
25782	RAB3GAP2	Hypoplasia of the corpus callosum	HP:0002079
25782	RAB3GAP2	Hypoplasia of penis	HP:0008736
25782	RAB3GAP2	Broad fingertip	HP:0011300
25782	RAB3GAP2	Low anterior hairline	HP:0000294
25782	RAB3GAP2	Short toe	HP:0001831
25782	RAB3GAP2	Cerebellar vermis hypoplasia	HP:0001320
25782	RAB3GAP2	Hypogonadotrophic hypogonadism	HP:0000044
25782	RAB3GAP2	Scrotal hypoplasia	HP:0000046
25782	RAB3GAP2	Metatarsus adductus	HP:0001840
25782	RAB3GAP2	Prominent nipples	HP:0004405
25782	RAB3GAP2	Overlapping toe	HP:0001845
25782	RAB3GAP2	Abnormal dermatoglyphics	HP:0007477
25782	RAB3GAP2	Micropenis	HP:0000054
25782	RAB3GAP2	Delayed puberty	HP:0000823
25782	RAB3GAP2	Microphthalmia	HP:0000568
25782	RAB3GAP2	Hypoplastic labia majora	HP:0000059
25782	RAB3GAP2	Clitoral hypoplasia	HP:0000060
25782	RAB3GAP2	Absent speech	HP:0001344
25782	RAB3GAP2	Hypoplastic labia minora	HP:0000064
25782	RAB3GAP2	Short metacarpal	HP:0010049
25782	RAB3GAP2	Short philtrum	HP:0000322
25782	RAB3GAP2	Hypoplasia of the maxilla	HP:0000327
25782	RAB3GAP2	Prematurely aged appearance	HP:0007495
25782	RAB3GAP2	Cerebral cortical atrophy	HP:0002120
25782	RAB3GAP2	Hand tremor	HP:0002378
25782	RAB3GAP2	Short phalanx of finger	HP:0009803
25782	RAB3GAP2	Talipes valgus	HP:0004684
25782	RAB3GAP2	Polymicrogyria	HP:0002126
25782	RAB3GAP2	Severe global developmental delay	HP:0011344
25782	RAB3GAP2	Hypotelorism	HP:0000601
25782	RAB3GAP2	Scoliosis	HP:0002650
25782	RAB3GAP2	Micrognathia	HP:0000347
25782	RAB3GAP2	Flexion contracture	HP:0001371
25782	RAB3GAP2	Cerebral visual impairment	HP:0100704
25782	RAB3GAP2	Congestive heart failure	HP:0001635
25782	RAB3GAP2	Posteriorly rotated ears	HP:0000358
25782	RAB3GAP2	Cardiomyopathy	HP:0001638
25782	RAB3GAP2	Peripheral neuropathy	HP:0009830
25782	RAB3GAP2	Abnormal distal phalanx morphology of finger	HP:0009832
25782	RAB3GAP2	Joint stiffness	HP:0001387
25782	RAB3GAP2	Joint laxity	HP:0001388
25782	RAB3GAP2	Postnatal microcephaly	HP:0005484
25782	RAB3GAP2	Progressive spastic paraplegia	HP:0007020
25782	RAB3GAP2	Hearing impairment	HP:0000365
25782	RAB3GAP2	Intellectual disability, severe	HP:0010864
25782	RAB3GAP2	Low-set, posteriorly rotated ears	HP:0000368
25782	RAB3GAP2	Low posterior hairline	HP:0002162
25782	RAB3GAP2	Lumbar hyperlordosis	HP:0002938
25782	RAB3GAP2	Short nose	HP:0003196
25782	RAB3GAP2	Hydronephrosis	HP:0000126
25782	RAB3GAP2	Optic atrophy	HP:0000648
25782	RAB3GAP2	Abnormality of visual evoked potentials	HP:0000649
25782	RAB3GAP2	Macrotia	HP:0000400
25782	RAB3GAP2	Prominent antitragus	HP:0008593
25782	RAB3GAP2	Slender ulna	HP:0003992
25782	RAB3GAP2	Recurrent respiratory infections	HP:0002205
25782	RAB3GAP2	Abnormal myelination	HP:0012447
25782	RAB3GAP2	Depressed nasal bridge	HP:0005280
25782	RAB3GAP2	Spastic dysarthria	HP:0002464
25782	RAB3GAP2	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
25782	RAB3GAP2	Feeding difficulties in infancy	HP:0008872
25782	RAB3GAP2	Prominent nasal bridge	HP:0000426
25782	RAB3GAP2	Wide nasal bridge	HP:0000431
25782	RAB3GAP2	Misalignment of teeth	HP:0000692
25782	RAB3GAP2	Generalized hirsutism	HP:0002230
25782	RAB3GAP2	Short palm	HP:0004279
25782	RAB3GAP2	Abnormal localization of kidney	HP:0100542
25782	RAB3GAP2	Postnatal growth retardation	HP:0008897
25782	RAB3GAP2	Abnormal toenail morphology	HP:0008388
25782	RAB3GAP2	Broad nasal tip	HP:0000455
25782	RAB3GAP2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
25782	RAB3GAP2	Anteverted nares	HP:0000463
25782	RAB3GAP2	High palate	HP:0000218
25782	RAB3GAP2	Tracheomalacia	HP:0002779
25782	RAB3GAP2	Furrowed tongue	HP:0000221
25782	RAB3GAP2	Retinal coloboma	HP:0000480
25782	RAB3GAP2	Intellectual disability	HP:0001249
25782	RAB3GAP2	Short stature	HP:0004322
25782	RAB3GAP2	Talipes equinovarus	HP:0001762
25782	RAB3GAP2	Asymmetry of the ears	HP:0010722
25782	RAB3GAP2	Microcornea	HP:0000482
25782	RAB3GAP2	Seizures	HP:0001250
25782	RAB3GAP2	Muscular hypotonia	HP:0001252
25782	RAB3GAP2	Intellectual disability, progressive	HP:0006887
25782	RAB3GAP2	Intrauterine growth retardation	HP:0001511
25782	RAB3GAP2	Muscular hypotonia of the trunk	HP:0008936
25782	RAB3GAP2	Intellectual disability, mild	HP:0001256
25782	RAB3GAP2	Everted lower lip vermilion	HP:0000232
25782	RAB3GAP2	Spasticity	HP:0001257
25782	RAB3GAP2	Global brain atrophy	HP:0002283
25782	RAB3GAP2	Hyperlordosis	HP:0003307
25782	RAB3GAP2	Downslanted palpebral fissures	HP:0000494
25782	RAB3GAP2	Global developmental delay	HP:0001263
25782	RAB3GAP2	Spastic diplegia	HP:0001264
25782	RAB3GAP2	Brachycephaly	HP:0000248
25782	RAB3GAP2	Kyphosis	HP:0002808
25782	RAB3GAP2	Ulnar deviation of finger	HP:0009465
25782	RAB3GAP2	Agenesis of corpus callosum	HP:0001274
25782	RAB3GAP2	Microcephaly	HP:0000252
25782	RAB3GAP2	Pectus excavatum	HP:0000767
9401	RECQL4	Poikiloderma	HP:0001029
9401	RECQL4	Cataract	HP:0000518
9401	RECQL4	Autosomal recessive inheritance	HP:0000007
9401	RECQL4	Perineal fistula	HP:0004871
9401	RECQL4	Proptosis	HP:0000520
9401	RECQL4	Anteriorly placed anus	HP:0001545
9401	RECQL4	Narrow face	HP:0000275
9401	RECQL4	Long face	HP:0000276
9401	RECQL4	Cryptorchidism	HP:0000028
9401	RECQL4	Midface capillary hemangioma	HP:0007452
9401	RECQL4	Epicanthus	HP:0000286
9401	RECQL4	Myopia	HP:0000545
9401	RECQL4	Squamous cell carcinoma	HP:0002860
9401	RECQL4	Mottled pigmentation	HP:0001070
9401	RECQL4	Mandibular prognathia	HP:0000303
9401	RECQL4	Myelodysplasia	HP:0002863
9401	RECQL4	Absent thumb	HP:0009777
9401	RECQL4	Absent eyelashes	HP:0000561
9401	RECQL4	Short thumb	HP:0009778
9401	RECQL4	Bicoronal synostosis	HP:0011318
9401	RECQL4	Microphthalmia	HP:0000568
9401	RECQL4	Alopecia	HP:0001596
9401	RECQL4	Hypertelorism	HP:0000316
9401	RECQL4	Increased number of teeth	HP:0011069
9401	RECQL4	Aplasia of metacarpal bones	HP:0010048
9401	RECQL4	Limited shoulder movement	HP:0006467
9401	RECQL4	Blepharophimosis	HP:0000581
9401	RECQL4	Prematurely aged appearance	HP:0007495
9401	RECQL4	Flat forehead	HP:0004425
9401	RECQL4	Short chin	HP:0000331
9401	RECQL4	Vesicoureteral reflux	HP:0000076
9401	RECQL4	Abnormality of the kidney	HP:0000077
9401	RECQL4	Stiff interphalangeal joints	HP:0005198
9401	RECQL4	Polymicrogyria	HP:0002126
9401	RECQL4	Anomalous splenoportal venous system	HP:0005201
9401	RECQL4	Broad forehead	HP:0000337
9401	RECQL4	Neutropenia	HP:0001875
9401	RECQL4	Bowing of the long bones	HP:0006487
9401	RECQL4	Coronal craniosynostosis	HP:0004440
9401	RECQL4	Hypotelorism	HP:0000601
9401	RECQL4	Scoliosis	HP:0002650
9401	RECQL4	Sagittal craniosynostosis	HP:0004442
9401	RECQL4	Lambdoidal craniosynostosis	HP:0004443
9401	RECQL4	Micrognathia	HP:0000347
9401	RECQL4	Abnormal heart morphology	HP:0001627
9401	RECQL4	Skeletal dysplasia	HP:0002652
9401	RECQL4	Joint dislocation	HP:0001373
9401	RECQL4	Congenital hip dislocation	HP:0001374
9401	RECQL4	Aplasia/Hypoplasia of the patella	HP:0006498
9401	RECQL4	Aplasia/Hypoplasia of the radius	HP:0006501
9401	RECQL4	Lymphoma	HP:0002665
9401	RECQL4	Osteosarcoma	HP:0002669
9401	RECQL4	Hearing impairment	HP:0000365
9401	RECQL4	Basal cell carcinoma	HP:0002671
9401	RECQL4	Anemia	HP:0001903
9401	RECQL4	Concave nasal ridge	HP:0011120
9401	RECQL4	Low-set, posteriorly rotated ears	HP:0000368
9401	RECQL4	Small hand	HP:0200055
9401	RECQL4	Short nose	HP:0003196
9401	RECQL4	Hydronephrosis	HP:0000126
9401	RECQL4	Nystagmus	HP:0000639
9401	RECQL4	Aplasia/Hypoplasia of the thumb	HP:0009601
9401	RECQL4	Sparse hair	HP:0008070
9401	RECQL4	Absent radius	HP:0003974
9401	RECQL4	Rib fusion	HP:0000902
9401	RECQL4	Hypogonadism	HP:0000135
9401	RECQL4	Carpal bone aplasia	HP:0004231
9401	RECQL4	Abnormal cardiac septum morphology	HP:0001671
9401	RECQL4	Optic atrophy	HP:0000648
9401	RECQL4	Abnormality of the metacarpal bones	HP:0001163
9401	RECQL4	Abnormal vertebral morphology	HP:0003468
9401	RECQL4	Rectovaginal fistula	HP:0000143
9401	RECQL4	High, narrow palate	HP:0002705
9401	RECQL4	Conductive hearing impairment	HP:0000405
9401	RECQL4	Hand oligodactyly	HP:0001180
9401	RECQL4	Narrow mouth	HP:0000160
9401	RECQL4	Short humerus	HP:0005792
9401	RECQL4	Slender nose	HP:0000417
9401	RECQL4	Abnormality of the carpal bones	HP:0001191
9401	RECQL4	Premature graying of hair	HP:0002216
9401	RECQL4	Zonular cataract	HP:0010920
9401	RECQL4	Hypoplasia of the radius	HP:0002984
9401	RECQL4	Osteopenia	HP:0000938
9401	RECQL4	Prominent nasal bridge	HP:0000426
9401	RECQL4	Osteoporosis	HP:0000939
9401	RECQL4	Delayed eruption of teeth	HP:0000684
9401	RECQL4	Hypoplasia of teeth	HP:0000685
9401	RECQL4	Underdeveloped nasal alae	HP:0000430
9401	RECQL4	Cleft palate	HP:0000175
9401	RECQL4	Absent eyebrow	HP:0002223
9401	RECQL4	Microdontia	HP:0000691
9401	RECQL4	Limited elbow movement	HP:0002996
9401	RECQL4	Short palm	HP:0004279
9401	RECQL4	Narrow nasal bridge	HP:0000446
9401	RECQL4	Kyphoscoliosis	HP:0002751
9401	RECQL4	Abnormal localization of kidney	HP:0100542
9401	RECQL4	Bifid uvula	HP:0000193
9401	RECQL4	Choanal stenosis	HP:0000452
9401	RECQL4	Annular pancreas	HP:0001734
9401	RECQL4	Agenesis of permanent teeth	HP:0006349
9401	RECQL4	Hypoplasia of the ulna	HP:0003022
9401	RECQL4	Nail dystrophy	HP:0008404
9401	RECQL4	Palmoplantar keratoderma	HP:0000982
9401	RECQL4	Frontal bossing	HP:0002007
9401	RECQL4	Ulnar bowing	HP:0003031
9401	RECQL4	Abnormality of cardiovascular system morphology	HP:0030680
9401	RECQL4	High palate	HP:0000218
9401	RECQL4	Diarrhea	HP:0002014
9401	RECQL4	Cutaneous photosensitivity	HP:0000992
9401	RECQL4	Forearm reduction defects	HP:0006368
9401	RECQL4	Intellectual disability	HP:0001249
9401	RECQL4	Narrow palpebral fissure	HP:0045025
9401	RECQL4	Nausea and vomiting	HP:0002017
9401	RECQL4	Talipes equinovarus	HP:0001762
9401	RECQL4	Microcornea	HP:0000482
9401	RECQL4	Short stature	HP:0004322
9401	RECQL4	Seizures	HP:0001250
9401	RECQL4	Spina bifida occulta	HP:0003298
9401	RECQL4	Strabismus	HP:0000486
9401	RECQL4	Growth delay	HP:0001510
9401	RECQL4	Carpal synostosis	HP:0009702
9401	RECQL4	Anal atresia	HP:0002023
9401	RECQL4	Intrauterine growth retardation	HP:0001511
9401	RECQL4	Malabsorption	HP:0002024
9401	RECQL4	Urogenital fistula	HP:0100589
9401	RECQL4	Short foot	HP:0001773
9401	RECQL4	Dermal atrophy	HP:0004334
9401	RECQL4	Small for gestational age	HP:0001518
9401	RECQL4	Hypotrichosis	HP:0001006
9401	RECQL4	Hydrocephalus	HP:0000238
9401	RECQL4	Downslanted palpebral fissures	HP:0000494
9401	RECQL4	Large fontanelles	HP:0000239
9401	RECQL4	Telangiectasia	HP:0001009
9401	RECQL4	Brachyturricephaly	HP:0000244
9401	RECQL4	Glaucoma	HP:0000501
9401	RECQL4	Patellar hypoplasia	HP:0003065
9401	RECQL4	Agenesis of corpus callosum	HP:0001274
9401	RECQL4	Brittle hair	HP:0002299
9401	RECQL4	Failure to thrive in infancy	HP:0001531
9401	RECQL4	Aphalangy of the hands	HP:0005886
25788	RAD54B	Lymphoma	HP:0002665
124093	CCDC78	Autosomal dominant inheritance	HP:0000006
124093	CCDC78	Centrally nucleated skeletal muscle fibers	HP:0003687
124093	CCDC78	Generalized hypotonia	HP:0001290
124093	CCDC78	Fatigue	HP:0012378
124093	CCDC78	Muscle weakness	HP:0001324
124093	CCDC78	Myalgia	HP:0003326
124093	CCDC78	Cognitive impairment	HP:0100543
1213	CLTC	Feeding difficulties	HP:0011968
1213	CLTC	Open mouth	HP:0000194
1213	CLTC	Optic atrophy	HP:0000648
1213	CLTC	Developmental regression	HP:0002376
1213	CLTC	Generalized hypotonia	HP:0001290
1213	CLTC	Cerebral atrophy	HP:0002059
1213	CLTC	Limb hypertonia	HP:0002509
1213	CLTC	Autism	HP:0000717
1213	CLTC	Unsteady gait	HP:0002317
1213	CLTC	Rigidity	HP:0002063
1213	CLTC	Paraparesis	HP:0002385
1213	CLTC	Encephalopathy	HP:0001298
1213	CLTC	Status epilepticus	HP:0002133
1213	CLTC	Decreased fetal movement	HP:0001558
1213	CLTC	Long philtrum	HP:0000343
1213	CLTC	Hypsarrhythmia	HP:0002521
1213	CLTC	High palate	HP:0000218
1213	CLTC	Thin upper lip vermilion	HP:0000219
1213	CLTC	High forehead	HP:0000348
1213	CLTC	EEG with multifocal slow activity	HP:0010844
1213	CLTC	Hypodontia	HP:0000668
1213	CLTC	Abnormal myelination	HP:0012447
1213	CLTC	Intellectual disability	HP:0001249
1213	CLTC	Short stature	HP:0004322
1213	CLTC	Retinal degeneration	HP:0000546
1213	CLTC	Seizures	HP:0001250
1213	CLTC	Ataxia	HP:0001251
1213	CLTC	Gastroesophageal reflux	HP:0002020
1213	CLTC	Failure to thrive	HP:0001508
1213	CLTC	Impulsivity	HP:0100710
1213	CLTC	Spasticity	HP:0001257
1213	CLTC	Attention deficit hyperactivity disorder	HP:0007018
1213	CLTC	Downslanted palpebral fissures	HP:0000494
1213	CLTC	Delayed speech and language development	HP:0000750
1213	CLTC	Global developmental delay	HP:0001263
1213	CLTC	Hyporeflexia	HP:0001265
1213	CLTC	Difficulty walking	HP:0002355
1213	CLTC	Mental deterioration	HP:0001268
1213	CLTC	Variable expressivity	HP:0003828
1213	CLTC	Poor head control	HP:0002421
1213	CLTC	Dyskinesia	HP:0100660
1213	CLTC	Myoclonus	HP:0001336
1213	CLTC	Abnormality of vision	HP:0000504
1213	CLTC	Tremor	HP:0001337
1213	CLTC	Abnormal corpus callosum morphology	HP:0001273
1213	CLTC	Microcephaly	HP:0000252
1213	CLTC	Ptosis	HP:0000508
1213	CLTC	Nystagmus	HP:0000639
25792	CIZ1	Axial dystonia	HP:0002530
25792	CIZ1	Hyperventilation	HP:0002883
25792	CIZ1	Cerebral cortical atrophy	HP:0002120
25792	CIZ1	Head tremor	HP:0002346
25792	CIZ1	Unsteady gait	HP:0002317
25792	CIZ1	Dysphonia	HP:0001618
25792	CIZ1	Difficulty walking	HP:0002355
25792	CIZ1	Writer's cramp	HP:0002356
25792	CIZ1	Panic attack	HP:0025269
25792	CIZ1	Limb tremor	HP:0200085
25792	CIZ1	Cerebellar atrophy	HP:0001272
25792	CIZ1	Myoclonus	HP:0001336
25792	CIZ1	Torticollis	HP:0000473
25792	CIZ1	Supraventricular arrhythmia	HP:0005115
25792	CIZ1	Neck muscle hypertrophy	HP:0012893
9409	PEX16	Macrocephaly	HP:0000256
9409	PEX16	Multicystic kidney dysplasia	HP:0000003
9409	PEX16	Wide anterior fontanel	HP:0000260
9409	PEX16	Cataract	HP:0000518
9409	PEX16	Autosomal recessive inheritance	HP:0000007
9409	PEX16	Spastic paraparesis	HP:0002313
9409	PEX16	Generalized hypotonia	HP:0001290
9409	PEX16	Dolichocephaly	HP:0000268
9409	PEX16	Primary adrenal insufficiency	HP:0008207
9409	PEX16	Abnormal chorioretinal morphology	HP:0000532
9409	PEX16	Corneal opacity	HP:0007957
9409	PEX16	Abnormality of retinal pigmentation	HP:0007703
9409	PEX16	Cryptorchidism	HP:0000028
9409	PEX16	Dysmetria	HP:0001310
9409	PEX16	Epicanthus	HP:0000286
9409	PEX16	Reduced tendon reflexes	HP:0001315
9409	PEX16	Neonatal hypotonia	HP:0001319
9409	PEX16	Abnormality of epiphysis morphology	HP:0005930
9409	PEX16	Retinal dystrophy	HP:0000556
9409	PEX16	Respiratory insufficiency	HP:0002093
9409	PEX16	Hypospadias	HP:0000047
9409	PEX16	EEG abnormality	HP:0002353
9409	PEX16	Brushfield spots	HP:0001088
9409	PEX16	Hyperreflexia	HP:0001347
9409	PEX16	Upslanted palpebral fissure	HP:0000582
9409	PEX16	Developmental regression	HP:0002376
9409	PEX16	Elevated levels of phytanic acid	HP:0010571
9409	PEX16	Polymicrogyria	HP:0002126
9409	PEX16	Severe global developmental delay	HP:0011344
9409	PEX16	Flat face	HP:0012368
9409	PEX16	Premature birth	HP:0001622
9409	PEX16	Micrognathia	HP:0000347
9409	PEX16	Progressive	HP:0003676
9409	PEX16	Skeletal dysplasia	HP:0002652
9409	PEX16	High forehead	HP:0000348
9409	PEX16	Ventricular septal defect	HP:0001629
9409	PEX16	Flat occiput	HP:0005469
9409	PEX16	Cardiomyopathy	HP:0001638
9409	PEX16	Constriction of peripheral visual field	HP:0001133
9409	PEX16	Leukodystrophy	HP:0002415
9409	PEX16	Low-set, posteriorly rotated ears	HP:0000368
9409	PEX16	Abnormality of the liver	HP:0001392
9409	PEX16	Posterior embryotoxon	HP:0000627
9409	PEX16	Hepatic failure	HP:0001399
9409	PEX16	External ear malformation	HP:0008572
9409	PEX16	Hydronephrosis	HP:0000126
9409	PEX16	Nystagmus	HP:0000639
9409	PEX16	Ichthyosis	HP:0008064
9409	PEX16	Decreased liver function	HP:0001410
9409	PEX16	Facial palsy	HP:0010628
9409	PEX16	Optic atrophy	HP:0000648
9409	PEX16	Abnormality of coagulation	HP:0001928
9409	PEX16	Abnormality of metabolism/homeostasis	HP:0001939
9409	PEX16	Nyctalopia	HP:0000662
9409	PEX16	Sensorineural hearing impairment	HP:0000407
9409	PEX16	Arrhythmia	HP:0011675
9409	PEX16	Abnormality of the tongue	HP:0000157
9409	PEX16	Epiphyseal stippling	HP:0010655
9409	PEX16	Depressed nasal bridge	HP:0005280
9409	PEX16	Glossoptosis	HP:0000162
9409	PEX16	Underdeveloped supraorbital ridges	HP:0009891
9409	PEX16	Feeding difficulties in infancy	HP:0008872
9409	PEX16	Severe muscular hypotonia	HP:0006829
9409	PEX16	Abnormal palate morphology	HP:0000174
9409	PEX16	Bilateral single transverse palmar creases	HP:0007598
9409	PEX16	Wide nasal bridge	HP:0000431
9409	PEX16	Jaundice	HP:0000952
9409	PEX16	Cognitive impairment	HP:0100543
9409	PEX16	Hepatomegaly	HP:0002240
9409	PEX16	Profound global developmental delay	HP:0012736
9409	PEX16	Behavioral abnormality	HP:0000708
9409	PEX16	Cerebellar vermis atrophy	HP:0006855
9409	PEX16	Corpus callosum atrophy	HP:0007371
9409	PEX16	Anteverted nares	HP:0000463
9409	PEX16	Elevated serum aspartate aminotransferase	HP:0031956
9409	PEX16	Clitoral hypertrophy	HP:0008665
9409	PEX16	Thickened nuchal skin fold	HP:0000474
9409	PEX16	High palate	HP:0000218
9409	PEX16	Abnormality of neuronal migration	HP:0002269
9409	PEX16	Dysphagia	HP:0002015
9409	PEX16	Seizures	HP:0001250
9409	PEX16	Short stature	HP:0004322
9409	PEX16	Constipation	HP:0002019
9409	PEX16	Ataxia	HP:0001251
9409	PEX16	Failure to thrive	HP:0001508
9409	PEX16	Muscular hypotonia	HP:0001252
9409	PEX16	Pyloric stenosis	HP:0002021
9409	PEX16	Strabismus	HP:0000486
9409	PEX16	Generalized neonatal hypotonia	HP:0008935
9409	PEX16	Very long chain fatty acid accumulation	HP:0008167
9409	PEX16	Malabsorption	HP:0002024
9409	PEX16	Spasticity	HP:0001257
9409	PEX16	Dysarthria	HP:0001260
9409	PEX16	Global developmental delay	HP:0001263
9409	PEX16	Death in infancy	HP:0001522
9409	PEX16	Glaucoma	HP:0000501
9409	PEX16	Visual impairment	HP:0000505
9409	PEX16	Progressive muscle weakness	HP:0003323
9409	PEX16	Microcephaly	HP:0000252
9409	PEX16	Ptosis	HP:0000508
9409	PEX16	Rod-cone dystrophy	HP:0000510
25793	FBXO7	Slow saccadic eye movements	HP:0000514
25793	FBXO7	Hyperreflexia	HP:0001347
25793	FBXO7	Young adult onset	HP:0011462
25793	FBXO7	Autosomal recessive inheritance	HP:0000007
25793	FBXO7	Neurogenic bladder	HP:0000011
25793	FBXO7	Monotonic speech	HP:0031435
25793	FBXO7	Lower limb spasticity	HP:0002061
25793	FBXO7	Rigidity	HP:0002063
25793	FBXO7	Hypomimic face	HP:0000338
25793	FBXO7	Bradykinesia	HP:0002067
25793	FBXO7	Parkinsonism	HP:0001300
25793	FBXO7	Dementia	HP:0000726
25793	FBXO7	Abnormality of extrapyramidal motor function	HP:0002071
25793	FBXO7	Lewy bodies	HP:0100315
25793	FBXO7	Slow progression	HP:0003677
25793	FBXO7	Babinski sign	HP:0003487
25793	FBXO7	Dysphagia	HP:0002015
25793	FBXO7	Intention tremor	HP:0002080
25793	FBXO7	Talipes equinovarus	HP:0001762
25793	FBXO7	Spasticity	HP:0001257
25793	FBXO7	Dysarthria	HP:0001260
25793	FBXO7	Abnormal autonomic nervous system physiology	HP:0012332
25793	FBXO7	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
25793	FBXO7	Dystonia	HP:0001332
25793	FBXO7	Scissor gait	HP:0012407
25793	FBXO7	Sleep disturbance	HP:0002360
25793	FBXO7	Substantia nigra gliosis	HP:0011960
25793	FBXO7	Myoclonus	HP:0001336
25793	FBXO7	Tremor	HP:0001337
25793	FBXO7	Shuffling gait	HP:0002362
25793	FBXO7	Postural instability	HP:0002172
25793	FBXO7	Visual hallucinations	HP:0002367
25794	FSCN2	Abnormal electroretinogram	HP:0000512
25794	FSCN2	Hyperreflexia	HP:0001347
25794	FSCN2	Autosomal dominant inheritance	HP:0000006
25794	FSCN2	Cataract	HP:0000518
25794	FSCN2	Hypogonadism	HP:0000135
25794	FSCN2	Optic atrophy	HP:0000648
25794	FSCN2	Hyperinsulinemia	HP:0000842
25794	FSCN2	Anteverted nares	HP:0000463
25794	FSCN2	Chorioretinal atrophy	HP:0000533
25794	FSCN2	Conductive hearing impairment	HP:0000405
25794	FSCN2	Nyctalopia	HP:0000662
25794	FSCN2	Sensorineural hearing impairment	HP:0000407
25794	FSCN2	Abnormality of retinal pigmentation	HP:0007703
25794	FSCN2	Ophthalmoplegia	HP:0000602
25794	FSCN2	Type II diabetes mellitus	HP:0005978
25794	FSCN2	Atypical scarring of skin	HP:0000987
25794	FSCN2	Hypoplasia of penis	HP:0008736
25794	FSCN2	Intellectual disability	HP:0001249
25794	FSCN2	Attenuation of retinal blood vessels	HP:0007843
25794	FSCN2	Abnormal testis morphology	HP:0000035
25794	FSCN2	Photophobia	HP:0000613
25794	FSCN2	Obesity	HP:0001513
25794	FSCN2	Blindness	HP:0000618
25794	FSCN2	Abnormal retinal vascular morphology	HP:0008046
25794	FSCN2	Wide nasal bridge	HP:0000431
25794	FSCN2	Keratoconus	HP:0000563
25794	FSCN2	Glaucoma	HP:0000501
25794	FSCN2	Bone spicule pigmentation of the retina	HP:0007737
25794	FSCN2	Visual impairment	HP:0000505
25794	FSCN2	Progressive night blindness	HP:0007675
25794	FSCN2	Rod-cone dystrophy	HP:0000510
25794	FSCN2	Nystagmus	HP:0000639
115908	CTHRC1	Esophageal carcinoma	HP:0011459
115908	CTHRC1	Somatic mutation	HP:0001428
115908	CTHRC1	Gastroesophageal reflux	HP:0002020
115908	CTHRC1	Barrett esophagus	HP:0100580
115908	CTHRC1	Esophageal ulceration	HP:0004791
9414	TJP2	Portal hypertension	HP:0001409
9414	TJP2	Failure to thrive	HP:0001508
9414	TJP2	Vitamin K deficiency	HP:0011892
9414	TJP2	Autosomal recessive inheritance	HP:0000007
9414	TJP2	Hepatic failure	HP:0001399
9414	TJP2	Increased serum bile acid concentration	HP:0012202
9414	TJP2	Steatorrhea	HP:0002570
9414	TJP2	Hepatocellular carcinoma	HP:0001402
9414	TJP2	Rickets	HP:0002748
9414	TJP2	Progressive	HP:0003676
9414	TJP2	Pruritus	HP:0000989
9414	TJP2	Intrahepatic cholestasis	HP:0001406
25802	LMOD1	Nausea and vomiting	HP:0002017
25802	LMOD1	Neoplasm of the heart	HP:0100544
25802	LMOD1	Umbilical hernia	HP:0001537
25802	LMOD1	Hypoperistalsis	HP:0100771
25802	LMOD1	Multicystic kidney dysplasia	HP:0000003
25802	LMOD1	Omphalocele	HP:0001539
25802	LMOD1	Microcolon	HP:0004388
25802	LMOD1	Abdominal distention	HP:0003270
25802	LMOD1	Intestinal malrotation	HP:0002566
25802	LMOD1	Sepsis	HP:0100806
25802	LMOD1	Hydroureter	HP:0000072
25802	LMOD1	Death in infancy	HP:0001522
25802	LMOD1	Megacystis	HP:0000021
25802	LMOD1	Polyhydramnios	HP:0001561
25802	LMOD1	Cryptorchidism	HP:0000028
9419	CRIPT	Profound global developmental delay	HP:0012736
9419	CRIPT	Brachydactyly	HP:0001156
9419	CRIPT	Autosomal recessive inheritance	HP:0000007
9419	CRIPT	Proptosis	HP:0000520
9419	CRIPT	Anteverted nares	HP:0000463
9419	CRIPT	Focal impaired awareness seizure	HP:0002384
9419	CRIPT	Spotty hyperpigmentation	HP:0005585
9419	CRIPT	Spotty hypopigmentation	HP:0005590
9419	CRIPT	Anisopoikilocytosis	HP:0004823
9419	CRIPT	Sparse and thin eyebrow	HP:0000535
9419	CRIPT	Proximal placement of thumb	HP:0009623
9419	CRIPT	Frontal bossing	HP:0002007
9419	CRIPT	Short distal phalanx of finger	HP:0009882
9419	CRIPT	High forehead	HP:0000348
9419	CRIPT	Recurrent infections	HP:0002719
9419	CRIPT	Depressed nasal bridge	HP:0005280
9419	CRIPT	Talipes equinovarus	HP:0001762
9419	CRIPT	Osteopenia	HP:0000938
9419	CRIPT	Small for gestational age	HP:0001518
9419	CRIPT	Anemia	HP:0001903
9419	CRIPT	Microretrognathia	HP:0000308
9419	CRIPT	Severe short stature	HP:0003510
9419	CRIPT	Telecanthus	HP:0000506
9419	CRIPT	High myopia	HP:0011003
9419	CRIPT	Microcephaly	HP:0000252
9420	CYP7B1	Cataract	HP:0000518
9420	CYP7B1	Autosomal recessive inheritance	HP:0000007
9420	CYP7B1	Optic atrophy	HP:0000648
9420	CYP7B1	Abnormality of coagulation	HP:0001928
9420	CYP7B1	Steatorrhea	HP:0002570
9420	CYP7B1	Lower limb spasticity	HP:0002061
9420	CYP7B1	Spastic gait	HP:0002064
9420	CYP7B1	Urinary incontinence	HP:0000020
9420	CYP7B1	Limb ataxia	HP:0002070
9420	CYP7B1	Sensorineural hearing impairment	HP:0000407
9420	CYP7B1	Upper limb muscle weakness	HP:0003484
9420	CYP7B1	Truncal ataxia	HP:0002078
9420	CYP7B1	Babinski sign	HP:0003487
9420	CYP7B1	Abnormal cerebellum morphology	HP:0001317
9420	CYP7B1	Neonatal cholestatic liver disease	HP:0006566
9420	CYP7B1	Neonatal onset	HP:0003623
9420	CYP7B1	Upper limb amyotrophy	HP:0009129
9420	CYP7B1	Hyperintensity of cerebral white matter on MRI	HP:0030890
9420	CYP7B1	Lower limb amyotrophy	HP:0007210
9420	CYP7B1	Atrophy of the spinal cord	HP:0006827
9420	CYP7B1	Lower limb muscle weakness	HP:0007340
9420	CYP7B1	Congenital hepatic fibrosis	HP:0002612
9420	CYP7B1	Paraplegia	HP:0010550
9420	CYP7B1	Jaundice	HP:0000952
9420	CYP7B1	Abnormality of the coagulation cascade	HP:0003256
9420	CYP7B1	Ankle clonus	HP:0011448
9420	CYP7B1	Biliary tract abnormality	HP:0001080
9420	CYP7B1	Cognitive impairment	HP:0100543
9420	CYP7B1	Impaired vibratory sensation	HP:0002495
9420	CYP7B1	Gastrointestinal hemorrhage	HP:0002239
9420	CYP7B1	Hepatomegaly	HP:0002240
9420	CYP7B1	Hyperreflexia	HP:0001347
9420	CYP7B1	Abnormality of the cerebral white matter	HP:0002500
9420	CYP7B1	Impaired distal proprioception	HP:0006858
9420	CYP7B1	Upper limb spasticity	HP:0006986
9420	CYP7B1	Abnormality of the urinary system	HP:0000079
9420	CYP7B1	Splenomegaly	HP:0001744
9420	CYP7B1	Acholic stools	HP:0011985
9420	CYP7B1	Elevated alkaline phosphatase	HP:0003155
9420	CYP7B1	Hepatitis	HP:0012115
9420	CYP7B1	Scoliosis	HP:0002650
9420	CYP7B1	Progressive	HP:0003676
9420	CYP7B1	Pruritus	HP:0000989
9420	CYP7B1	Diarrhea	HP:0002014
9420	CYP7B1	Elevated hepatic transaminase	HP:0002910
9420	CYP7B1	Dysphagia	HP:0002015
9420	CYP7B1	Pes cavus	HP:0001761
9420	CYP7B1	Failure to thrive	HP:0001508
9420	CYP7B1	Limb dysmetria	HP:0002406
9420	CYP7B1	Spastic paraplegia	HP:0001258
9420	CYP7B1	Dysarthria	HP:0001260
9420	CYP7B1	Cirrhosis	HP:0001394
9420	CYP7B1	Impaired vibration sensation in the lower limbs	HP:0002166
9420	CYP7B1	Hepatic failure	HP:0001399
9420	CYP7B1	Polyneuropathy	HP:0001271
9420	CYP7B1	Intrahepatic cholestasis	HP:0001406
9420	CYP7B1	Nystagmus	HP:0000639
1230	CCR1	Abnormal blistering of the skin	HP:0008066
1230	CCR1	Avascular necrosis	HP:0010885
1230	CCR1	Cataract	HP:0000518
1230	CCR1	Myositis	HP:0100614
1230	CCR1	Meningitis	HP:0001287
1230	CCR1	Gait disturbance	HP:0001288
1230	CCR1	Confusion	HP:0001289
1230	CCR1	Arthralgia	HP:0002829
1230	CCR1	Vertigo	HP:0002321
1230	CCR1	Gangrene	HP:0100758
1230	CCR1	Fever	HP:0001945
1230	CCR1	Pleural effusion	HP:0002202
1230	CCR1	Oral ulcer	HP:0000155
1230	CCR1	Lymphadenopathy	HP:0002716
1230	CCR1	Pulmonary embolism	HP:0002204
1230	CCR1	Migraine	HP:0002076
1230	CCR1	Weight loss	HP:0001824
1230	CCR1	Acne	HP:0001061
1230	CCR1	Pericarditis	HP:0001701
1230	CCR1	Cranial nerve paralysis	HP:0006824
1230	CCR1	Retrobulbar optic neuritis	HP:0100654
1230	CCR1	Memory impairment	HP:0002354
1230	CCR1	Pleuritis	HP:0002102
1230	CCR1	Hemoptysis	HP:0002105
1230	CCR1	Orchitis	HP:0100796
1230	CCR1	Gastrointestinal hemorrhage	HP:0002239
1230	CCR1	Pulmonary infiltrates	HP:0002113
1230	CCR1	Hyperreflexia	HP:0001347
1230	CCR1	Arterial thrombosis	HP:0004420
1230	CCR1	Pancreatitis	HP:0001733
1230	CCR1	Venous thrombosis	HP:0004936
1230	CCR1	Developmental regression	HP:0002376
1230	CCR1	Vasculitis	HP:0002633
1230	CCR1	Paresthesia	HP:0003401
1230	CCR1	Keratoconjunctivitis sicca	HP:0001097
1230	CCR1	Subcutaneous nodule	HP:0001482
1230	CCR1	Cerebral ischemia	HP:0002637
1230	CCR1	Encephalitis	HP:0002383
1230	CCR1	Splenomegaly	HP:0001744
1230	CCR1	Renal insufficiency	HP:0000083
1230	CCR1	Increased intracranial pressure	HP:0002516
1230	CCR1	Glomerulopathy	HP:0100820
1230	CCR1	Abnormal pyramidal sign	HP:0007256
1230	CCR1	Arthritis	HP:0001369
1230	CCR1	Fatigue	HP:0012378
1230	CCR1	Irritability	HP:0000737
1230	CCR1	Nausea and vomiting	HP:0002017
1230	CCR1	Papule	HP:0200034
1230	CCR1	Seizures	HP:0001250
1230	CCR1	Recurrent aphthous stomatitis	HP:0011107
1230	CCR1	Ataxia	HP:0001251
1230	CCR1	Abnormal myocardium morphology	HP:0001637
1230	CCR1	Photophobia	HP:0000613
1230	CCR1	Immunologic hypersensitivity	HP:0100326
1230	CCR1	Malabsorption	HP:0002024
1230	CCR1	Retinopathy	HP:0000488
1230	CCR1	Endocarditis	HP:0100584
1230	CCR1	Blindness	HP:0000618
1230	CCR1	Abdominal pain	HP:0002027
1230	CCR1	Mitral regurgitation	HP:0001653
1230	CCR1	Hemiparesis	HP:0001269
1230	CCR1	Anorexia	HP:0002039
1230	CCR1	Myocardial infarction	HP:0001658
1230	CCR1	Aortic regurgitation	HP:0001659
1230	CCR1	Myalgia	HP:0003326
9423	NTN1	Poor fine motor coordination	HP:0007010
9423	NTN1	Fused cervical vertebrae	HP:0002949
9423	NTN1	Clumsiness	HP:0002312
9423	NTN1	Intellectual disability, mild	HP:0001256
9423	NTN1	Hypogonadotrophic hypogonadism	HP:0000044
9423	NTN1	Dysgenesis of the hippocampus	HP:0025101
9423	NTN1	Specific learning disability	HP:0001328
9423	NTN1	Cerebral palsy	HP:0100021
9423	NTN1	Bimanual synkinesia	HP:0001335
9423	NTN1	Agenesis of corpus callosum	HP:0001274
9423	NTN1	Easy fatigability	HP:0003388
9423	NTN1	Abnormality of the corticospinal tract	HP:0002492
9423	NTN1	Myalgia	HP:0003326
9426	CDY2A	Y-linked inheritance	HP:0001450
9426	CDY2A	Azoospermia	HP:0000027
9427	ECEL1	Camptodactyly	HP:0012385
9427	ECEL1	Talipes equinovarus	HP:0001762
9427	ECEL1	Short stature	HP:0004322
9427	ECEL1	Autosomal recessive inheritance	HP:0000007
9427	ECEL1	Hyperlordosis	HP:0003307
9427	ECEL1	Hip dislocation	HP:0002827
9427	ECEL1	Elbow flexion contracture	HP:0002987
9427	ECEL1	Anteverted nares	HP:0000463
9427	ECEL1	Cleft palate	HP:0000175
9427	ECEL1	Arthrogryposis multiplex congenita	HP:0002804
9427	ECEL1	Short neck	HP:0000470
9427	ECEL1	Round face	HP:0000311
9427	ECEL1	Calcaneovalgus deformity	HP:0001848
9427	ECEL1	Highly arched eyebrow	HP:0002553
9427	ECEL1	Scoliosis	HP:0002650
9427	ECEL1	Hypoplastic labia majora	HP:0000059
9427	ECEL1	Micrognathia	HP:0000347
9427	ECEL1	Ptosis	HP:0000508
9427	ECEL1	Furrowed tongue	HP:0000221
9427	ECEL1	Adducted thumb	HP:0001181
9427	ECEL1	Bulbous nose	HP:0000414
9427	ECEL1	Decreased muscle mass	HP:0003199
1235	CCR6	Dyspareunia	HP:0030016
1235	CCR6	Joint contracture of the hand	HP:0009473
1235	CCR6	Pulmonary infiltrates	HP:0002113
1235	CCR6	Arthralgia	HP:0002829
1235	CCR6	Autoimmunity	HP:0002960
1235	CCR6	Renal insufficiency	HP:0000083
1235	CCR6	Arthritis	HP:0001369
1235	CCR6	Xerostomia	HP:0000217
1235	CCR6	Flexion contracture	HP:0001371
1235	CCR6	Hypopigmented skin patches	HP:0001053
1235	CCR6	Pulmonary fibrosis	HP:0002206
1235	CCR6	Carious teeth	HP:0000670
1235	CCR6	Dysphagia	HP:0002015
1235	CCR6	Narrow foramen obturatorium	HP:0100958
1235	CCR6	Nausea and vomiting	HP:0002017
1235	CCR6	Mucosal telangiectasiae	HP:0100579
1235	CCR6	Congestive heart failure	HP:0001635
1235	CCR6	Gastroesophageal reflux	HP:0002020
1235	CCR6	Telangiectasia of the skin	HP:0100585
1235	CCR6	Malabsorption	HP:0002024
1235	CCR6	Skin ulcer	HP:0200042
1235	CCR6	Oliguria	HP:0100520
1235	CCR6	Pulmonary arterial hypertension	HP:0002092
1235	CCR6	Muscle weakness	HP:0001324
1235	CCR6	Osteolysis	HP:0002797
1235	CCR6	Contractures involving the joints of the feet	HP:0008366
1235	CCR6	Dyspnea	HP:0002094
1235	CCR6	Abnormal bowel sounds	HP:0030142
1235	CCR6	Hypertensive crisis	HP:0100735
25814	ATXN10	Gaze-evoked nystagmus	HP:0000640
25814	ATXN10	Hyperreflexia	HP:0001347
25814	ATXN10	Autosomal dominant inheritance	HP:0000006
25814	ATXN10	Incoordination	HP:0002311
25814	ATXN10	Generalized hypotonia	HP:0001290
25814	ATXN10	Urinary urgency	HP:0000012
25814	ATXN10	Depressivity	HP:0000716
25814	ATXN10	Unsteady gait	HP:0002317
25814	ATXN10	Lower limb spasticity	HP:0002061
25814	ATXN10	Aggressive behavior	HP:0000718
25814	ATXN10	Morphological abnormality of the pyramidal tract	HP:0002062
25814	ATXN10	Focal impaired awareness seizure	HP:0002384
25814	ATXN10	Focal motor seizure	HP:0011153
25814	ATXN10	Gait ataxia	HP:0002066
25814	ATXN10	Urinary incontinence	HP:0000020
25814	ATXN10	Generalized-onset seizure	HP:0002197
25814	ATXN10	Status epilepticus	HP:0002133
25814	ATXN10	Dementia	HP:0000726
25814	ATXN10	Limb ataxia	HP:0002070
25814	ATXN10	Abnormality of extrapyramidal motor function	HP:0002071
25814	ATXN10	Abnormal pyramidal sign	HP:0007256
25814	ATXN10	Progressive cerebellar ataxia	HP:0002073
25814	ATXN10	Dysdiadochokinesis	HP:0002075
25814	ATXN10	Impaired smooth pursuit	HP:0007772
25814	ATXN10	Gait imbalance	HP:0002141
25814	ATXN10	Dysmetria	HP:0001310
25814	ATXN10	Babinski sign	HP:0003487
25814	ATXN10	Genetic anticipation	HP:0003743
25814	ATXN10	Dysphagia	HP:0002015
25814	ATXN10	Intention tremor	HP:0002080
25814	ATXN10	Seizures	HP:0001250
25814	ATXN10	Apathy	HP:0000741
25814	ATXN10	Dysarthria	HP:0001260
25814	ATXN10	Hyporeflexia	HP:0001265
25814	ATXN10	Dyskinesia	HP:0100660
25814	ATXN10	Incomplete penetrance	HP:0003829
25814	ATXN10	Cerebellar atrophy	HP:0001272
25814	ATXN10	Scanning speech	HP:0002168
25814	ATXN10	Sleep disturbance	HP:0002360
25814	ATXN10	Decreased nerve conduction velocity	HP:0000762
25814	ATXN10	EEG with generalized epileptiform discharges	HP:0011198
25814	ATXN10	Nystagmus	HP:0000639
1244	ABCC2	Hepatomegaly	HP:0002240
1244	ABCC2	Abnormal urinary color	HP:0012086
1244	ABCC2	Abnormality of the gastric mucosa	HP:0004295
1244	ABCC2	Autosomal recessive inheritance	HP:0000007
1244	ABCC2	Abnormality of coagulation	HP:0001928
1244	ABCC2	Biliary tract abnormality	HP:0001080
1244	ABCC2	Jaundice	HP:0000952
1244	ABCC2	Fever	HP:0001945
1244	ABCC2	Fatigue	HP:0012378
1244	ABCC2	Abdominal pain	HP:0002027
1244	ABCC2	Conjugated hyperbilirubinemia	HP:0002908
25821	MTO1	Feeding difficulties	HP:0011968
25821	MTO1	Poor speech	HP:0002465
25821	MTO1	Seizures	HP:0001250
25821	MTO1	Failure to thrive	HP:0001508
25821	MTO1	Hypertrophic cardiomyopathy	HP:0001639
25821	MTO1	Increased serum lactate	HP:0002151
25821	MTO1	Autosomal recessive inheritance	HP:0000007
25821	MTO1	Optic atrophy	HP:0000648
25821	MTO1	Spasticity	HP:0001257
25821	MTO1	Generalized hypotonia	HP:0001290
25821	MTO1	Small for gestational age	HP:0001518
25821	MTO1	Global developmental delay	HP:0001263
25821	MTO1	Dystonia	HP:0001332
25821	MTO1	Hyperalaninemia	HP:0003348
25821	MTO1	Metabolic acidosis	HP:0001942
25821	MTO1	Hypoglycemia	HP:0001943
25821	MTO1	Lactic acidosis	HP:0003128
25821	MTO1	Congenital onset	HP:0003577
25821	MTO1	Arrhythmia	HP:0011675
25821	MTO1	Cognitive impairment	HP:0100543
9439	MED23	Intellectual disability	HP:0001249
9439	MED23	Autosomal recessive inheritance	HP:0000007
9440	MED17	Feeding difficulties	HP:0011968
9440	MED17	Seizures	HP:0001250
9440	MED17	Failure to thrive	HP:0001508
9440	MED17	Autosomal recessive inheritance	HP:0000007
9440	MED17	Spasticity	HP:0001257
9440	MED17	Diffuse cerebral atrophy	HP:0002506
9440	MED17	Postnatal microcephaly	HP:0005484
9440	MED17	Global developmental delay	HP:0001263
9440	MED17	Clonus	HP:0002169
9440	MED17	Hypsarrhythmia	HP:0002521
9440	MED17	Progressive	HP:0003676
9440	MED17	Progressive microcephaly	HP:0000253
9440	MED17	Dysphagia	HP:0002015
25828	TXN2	Feeding difficulties	HP:0011968
25828	TXN2	Poor coordination	HP:0002370
25828	TXN2	Neurodegeneration	HP:0002180
25828	TXN2	Autosomal recessive inheritance	HP:0000007
25828	TXN2	Optic atrophy	HP:0000648
25828	TXN2	Infantile onset	HP:0003593
25828	TXN2	Generalized hypotonia	HP:0001290
25828	TXN2	Delayed CNS myelination	HP:0002188
25828	TXN2	Axonal degeneration	HP:0040078
25828	TXN2	Severe global developmental delay	HP:0011344
25828	TXN2	Decreased activity of mitochondrial complex I	HP:0011923
25828	TXN2	Gastrointestinal dysmotility	HP:0002579
25828	TXN2	Decreased activity of mitochondrial complex III	HP:0011924
25828	TXN2	Generalized tonic-clonic seizures	HP:0002069
25828	TXN2	Myoclonic spasms	HP:0003739
25828	TXN2	Progressive	HP:0003676
25828	TXN2	Abnormal muscle tone	HP:0003808
25828	TXN2	Delayed myelination	HP:0012448
25828	TXN2	Seizures	HP:0001250
25828	TXN2	Gastrojejunal tube feeding in infancy	HP:0030884
25828	TXN2	Peripheral neuropathy	HP:0009830
25828	TXN2	Increased serum lactate	HP:0002151
25828	TXN2	Retinopathy	HP:0000488
25828	TXN2	Spasticity	HP:0001257
25828	TXN2	Increased CSF protein	HP:0002922
25828	TXN2	Global brain atrophy	HP:0002283
25828	TXN2	Abnormal autonomic nervous system physiology	HP:0012332
25828	TXN2	Global developmental delay	HP:0001263
25828	TXN2	Subependymal cysts	HP:0002416
25828	TXN2	Optic neuropathy	HP:0001138
25828	TXN2	Diffuse cerebellar atrophy	HP:0100275
25828	TXN2	Dystonia	HP:0001332
25828	TXN2	Cerebellar atrophy	HP:0001272
25828	TXN2	Congenital onset	HP:0003577
25828	TXN2	Increased CSF lactate	HP:0002490
25828	TXN2	Congenital microcephaly	HP:0011451
25828	TXN2	Microcephaly	HP:0000252
9445	ITM2B	Intention tremor	HP:0002080
9445	ITM2B	Cerebral amyloid angiopathy	HP:0011970
9445	ITM2B	Ataxia	HP:0001251
9445	ITM2B	Psychosis	HP:0000709
9445	ITM2B	Photophobia	HP:0000613
9445	ITM2B	Autosomal dominant inheritance	HP:0000006
9445	ITM2B	Progressive neurologic deterioration	HP:0002344
9445	ITM2B	Spasticity	HP:0001257
9445	ITM2B	Neurofibrillary tangles	HP:0002185
9445	ITM2B	Retinal dystrophy	HP:0000556
9445	ITM2B	Hearing impairment	HP:0000365
9445	ITM2B	Rigidity	HP:0002063
9445	ITM2B	Dementia	HP:0000726
9445	ITM2B	Nyctalopia	HP:0000662
9445	ITM2B	Tremor	HP:0001337
9445	ITM2B	Posterior polar cataract	HP:0001115
9445	ITM2B	Central scotoma	HP:0000603
9445	ITM2B	Hypertonia	HP:0001276
9445	ITM2B	Optic disc pallor	HP:0000543
1258	CNGB1	Abnormal electroretinogram	HP:0000512
1258	CNGB1	Hyperreflexia	HP:0001347
1258	CNGB1	Cataract	HP:0000518
1258	CNGB1	Hypogonadism	HP:0000135
1258	CNGB1	Autosomal recessive inheritance	HP:0000007
1258	CNGB1	Optic atrophy	HP:0000648
1258	CNGB1	Hyperinsulinemia	HP:0000842
1258	CNGB1	Anteverted nares	HP:0000463
1258	CNGB1	Conductive hearing impairment	HP:0000405
1258	CNGB1	Nyctalopia	HP:0000662
1258	CNGB1	Sensorineural hearing impairment	HP:0000407
1258	CNGB1	Abnormality of retinal pigmentation	HP:0007703
1258	CNGB1	Ophthalmoplegia	HP:0000602
1258	CNGB1	Type II diabetes mellitus	HP:0005978
1258	CNGB1	Atypical scarring of skin	HP:0000987
1258	CNGB1	Hypoplasia of penis	HP:0008736
1258	CNGB1	Macular degeneration	HP:0000608
1258	CNGB1	Intellectual disability	HP:0001249
1258	CNGB1	Abnormal testis morphology	HP:0000035
1258	CNGB1	Photophobia	HP:0000613
1258	CNGB1	Obesity	HP:0001513
1258	CNGB1	Blindness	HP:0000618
1258	CNGB1	Abnormal retinal vascular morphology	HP:0008046
1258	CNGB1	Wide nasal bridge	HP:0000431
1258	CNGB1	Keratoconus	HP:0000563
1258	CNGB1	Glaucoma	HP:0000501
1258	CNGB1	Bone spicule pigmentation of the retina	HP:0007737
1258	CNGB1	Peripheral visual field loss	HP:0007994
1258	CNGB1	Progressive night blindness	HP:0007675
1258	CNGB1	Rod-cone dystrophy	HP:0000510
1258	CNGB1	Nystagmus	HP:0000639
1259	CNGA1	Abnormal electroretinogram	HP:0000512
1259	CNGA1	Hyperreflexia	HP:0001347
1259	CNGA1	Cataract	HP:0000518
1259	CNGA1	Autosomal dominant inheritance	HP:0000006
1259	CNGA1	Autosomal recessive inheritance	HP:0000007
1259	CNGA1	Hypogonadism	HP:0000135
1259	CNGA1	Optic atrophy	HP:0000648
1259	CNGA1	Hyperinsulinemia	HP:0000842
1259	CNGA1	X-linked recessive inheritance	HP:0001419
1259	CNGA1	Anteverted nares	HP:0000463
1259	CNGA1	Conductive hearing impairment	HP:0000405
1259	CNGA1	Nyctalopia	HP:0000662
1259	CNGA1	Sensorineural hearing impairment	HP:0000407
1259	CNGA1	Abnormality of retinal pigmentation	HP:0007703
1259	CNGA1	Ophthalmoplegia	HP:0000602
1259	CNGA1	Type II diabetes mellitus	HP:0005978
1259	CNGA1	Atypical scarring of skin	HP:0000987
1259	CNGA1	Hypoplasia of penis	HP:0008736
1259	CNGA1	Intellectual disability	HP:0001249
1259	CNGA1	Abnormal testis morphology	HP:0000035
1259	CNGA1	Photophobia	HP:0000613
1259	CNGA1	Obesity	HP:0001513
1259	CNGA1	Blindness	HP:0000618
1259	CNGA1	Constriction of peripheral visual field	HP:0001133
1259	CNGA1	Abnormal retinal vascular morphology	HP:0008046
1259	CNGA1	Wide nasal bridge	HP:0000431
1259	CNGA1	Keratoconus	HP:0000563
1259	CNGA1	Glaucoma	HP:0000501
1259	CNGA1	Abnormality of fundus pigmentation	HP:0031605
1259	CNGA1	Progressive night blindness	HP:0007675
1259	CNGA1	Rod-cone dystrophy	HP:0000510
1259	CNGA1	Nystagmus	HP:0000639
9451	EIF2AK3	Reduced pancreatic beta cells	HP:0006274
9451	EIF2AK3	Hyperglycemia	HP:0003074
9451	EIF2AK3	Brachydactyly	HP:0001156
9451	EIF2AK3	Glycosuria	HP:0003076
9451	EIF2AK3	Autosomal recessive inheritance	HP:0000007
9451	EIF2AK3	Gait disturbance	HP:0001288
9451	EIF2AK3	Infantile onset	HP:0003593
9451	EIF2AK3	Steatorrhea	HP:0002570
9451	EIF2AK3	Hip dislocation	HP:0002827
9451	EIF2AK3	Irregular carpal bones	HP:0004236
9451	EIF2AK3	Barrel-shaped chest	HP:0001552
9451	EIF2AK3	Enlarged thorax	HP:0100625
9451	EIF2AK3	Chronic hepatic failure	HP:0100626
9451	EIF2AK3	Hypoglycemia	HP:0001943
9451	EIF2AK3	Dehydration	HP:0001944
9451	EIF2AK3	Acute hepatic failure	HP:0006554
9451	EIF2AK3	Hypermetropia	HP:0000540
9451	EIF2AK3	Platyspondyly	HP:0000926
9451	EIF2AK3	Epicanthus	HP:0000286
9451	EIF2AK3	Depressed nasal bridge	HP:0005280
9451	EIF2AK3	Weight loss	HP:0001824
9451	EIF2AK3	Pancreatic hypoplasia	HP:0002594
9451	EIF2AK3	Genu valgum	HP:0002857
9451	EIF2AK3	Type I diabetes mellitus	HP:0100651
9451	EIF2AK3	Osteopenia	HP:0000938
9451	EIF2AK3	Osteoporosis	HP:0000939
9451	EIF2AK3	Abnormality of the metaphysis	HP:0000944
9451	EIF2AK3	Microdontia	HP:0000691
9451	EIF2AK3	Narrow iliac wings	HP:0002868
9451	EIF2AK3	Hypothyroidism	HP:0000821
9451	EIF2AK3	Ivory epiphyses of the toes	HP:0010168
9451	EIF2AK3	Jaundice	HP:0000952
9451	EIF2AK3	Hypertelorism	HP:0000316
9451	EIF2AK3	Intracerebral periventricular calcifications	HP:0007229
9451	EIF2AK3	Delayed skeletal maturation	HP:0002750
9451	EIF2AK3	Insulin-resistant diabetes mellitus	HP:0000831
9451	EIF2AK3	Transient neonatal diabetes mellitus	HP:0008255
9451	EIF2AK3	Hepatomegaly	HP:0002240
9451	EIF2AK3	Short thorax	HP:0010306
9451	EIF2AK3	Recurrent fractures	HP:0002757
9451	EIF2AK3	Triangular face	HP:0000325
9451	EIF2AK3	Upslanted palpebral fissure	HP:0000582
9451	EIF2AK3	Irregular tarsal ossification	HP:0008134
9451	EIF2AK3	Ketoacidosis	HP:0001993
9451	EIF2AK3	Exocrine pancreatic insufficiency	HP:0001738
9451	EIF2AK3	Renal insufficiency	HP:0000083
9451	EIF2AK3	Neutropenia	HP:0001875
9451	EIF2AK3	Small epiphyses	HP:0010585
9451	EIF2AK3	Carpal bone hypoplasia	HP:0001498
9451	EIF2AK3	High palate	HP:0000218
9451	EIF2AK3	Hip subluxation	HP:0030043
9451	EIF2AK3	Abnormal heart morphology	HP:0001627
9451	EIF2AK3	High forehead	HP:0000348
9451	EIF2AK3	Abnormality of neuronal migration	HP:0002269
9451	EIF2AK3	Multiple epiphyseal dysplasia	HP:0002654
9451	EIF2AK3	Shortening of all middle phalanges of the fingers	HP:0006110
9451	EIF2AK3	Elevated hepatic transaminase	HP:0002910
9451	EIF2AK3	Epiphyseal dysplasia	HP:0002656
9451	EIF2AK3	Intellectual disability	HP:0001249
9451	EIF2AK3	Short stature	HP:0004322
9451	EIF2AK3	Seizures	HP:0001250
9451	EIF2AK3	Muscular hypotonia	HP:0001252
9451	EIF2AK3	Irregular vertebral endplates	HP:0003301
9451	EIF2AK3	Hyperuricemia	HP:0002149
9451	EIF2AK3	Intrauterine growth retardation	HP:0001511
9451	EIF2AK3	Thin vermilion border	HP:0000233
9451	EIF2AK3	Hyperlordosis	HP:0003307
9451	EIF2AK3	Coma	HP:0001259
9451	EIF2AK3	Global developmental delay	HP:0001263
9451	EIF2AK3	Hypoplasia of the odontoid process	HP:0003311
9451	EIF2AK3	Nephropathy	HP:0000112
9451	EIF2AK3	Coxa valga	HP:0002673
9451	EIF2AK3	Death in infancy	HP:0001522
9451	EIF2AK3	Preauricular pit	HP:0004467
9451	EIF2AK3	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
9451	EIF2AK3	Motor delay	HP:0001270
9451	EIF2AK3	Kyphosis	HP:0002808
9451	EIF2AK3	Ivory epiphyses of the phalanges of the hand	HP:0010234
9451	EIF2AK3	Microcephaly	HP:0000252
9451	EIF2AK3	Hypertonia	HP:0001276
9451	EIF2AK3	Renal tubular dysfunction	HP:0000124
9451	EIF2AK3	Flattened epiphysis	HP:0003071
25836	NIPBL	Multicystic kidney dysplasia	HP:0000003
25836	NIPBL	Cataract	HP:0000518
25836	NIPBL	Intestinal malrotation	HP:0002566
25836	NIPBL	Autosomal dominant inheritance	HP:0000006
25836	NIPBL	Congenital diaphragmatic hernia	HP:0000776
25836	NIPBL	Proptosis	HP:0000520
25836	NIPBL	Hip dislocation	HP:0002827
25836	NIPBL	Dislocated radial head	HP:0003083
25836	NIPBL	Long eyelashes	HP:0000527
25836	NIPBL	Abnormal umbilicus morphology	HP:0001551
25836	NIPBL	Primary amenorrhea	HP:0000786
25836	NIPBL	Volvulus	HP:0002580
25836	NIPBL	Prenatal movement abnormality	HP:0001557
25836	NIPBL	Inguinal hernia	HP:0000023
25836	NIPBL	Cryptorchidism	HP:0000028
25836	NIPBL	Hypoplasia of penis	HP:0008736
25836	NIPBL	Myopia	HP:0000545
25836	NIPBL	Low anterior hairline	HP:0000294
25836	NIPBL	Pneumonia	HP:0002090
25836	NIPBL	Hypospadias	HP:0000047
25836	NIPBL	Short 1st metacarpal	HP:0010034
25836	NIPBL	Hypoplastic male external genitalia	HP:0000050
25836	NIPBL	Delayed puberty	HP:0000823
25836	NIPBL	Sleep disturbance	HP:0002360
25836	NIPBL	Hypoplastic labia majora	HP:0000059
25836	NIPBL	Abnormally low-pitched voice	HP:0010300
25836	NIPBL	Thick eyebrow	HP:0000574
25836	NIPBL	Ventriculomegaly	HP:0002119
25836	NIPBL	Cerebral cortical atrophy	HP:0002120
25836	NIPBL	Vesicoureteral reflux	HP:0000076
25836	NIPBL	Optic nerve coloboma	HP:0000588
25836	NIPBL	Weak cry	HP:0001612
25836	NIPBL	Thrombocytopenia	HP:0001873
25836	NIPBL	Renal insufficiency	HP:0000083
25836	NIPBL	2-3 toe syndactyly	HP:0004691
25836	NIPBL	Premature birth	HP:0001622
25836	NIPBL	Ectopic kidney	HP:0000086
25836	NIPBL	Long philtrum	HP:0000343
25836	NIPBL	Renal hypoplasia	HP:0000089
25836	NIPBL	Micrognathia	HP:0000347
25836	NIPBL	Talipes	HP:0001883
25836	NIPBL	Ventricular septal defect	HP:0001629
25836	NIPBL	Proteinuria	HP:0000093
25836	NIPBL	Atrial septal defect	HP:0001631
25836	NIPBL	Limited elbow extension	HP:0001377
25836	NIPBL	Duplication of internal organs	HP:0005217
25836	NIPBL	Phocomelia	HP:0009829
25836	NIPBL	Peripheral neuropathy	HP:0009830
25836	NIPBL	Hip dysplasia	HP:0001385
25836	NIPBL	Attention deficit hyperactivity disorder	HP:0007018
25836	NIPBL	Joint stiffness	HP:0001387
25836	NIPBL	Renal cyst	HP:0000107
25836	NIPBL	Self-injurious behavior	HP:0100716
25836	NIPBL	Short sternum	HP:0000879
25836	NIPBL	Intellectual disability, severe	HP:0010864
25836	NIPBL	Low-set, posteriorly rotated ears	HP:0000368
25836	NIPBL	Clinodactyly of the 5th finger	HP:0004209
25836	NIPBL	Low-set ears	HP:0000369
25836	NIPBL	Low posterior hairline	HP:0002162
25836	NIPBL	Small hand	HP:0200055
25836	NIPBL	Neurological speech impairment	HP:0002167
25836	NIPBL	Short nose	HP:0003196
25836	NIPBL	Nystagmus	HP:0000639
25836	NIPBL	Increased nuchal translucency	HP:0010880
25836	NIPBL	Abnormality of the uterus	HP:0000130
25836	NIPBL	Otitis media	HP:0000388
25836	NIPBL	Oligodactyly	HP:0012165
25836	NIPBL	Optic atrophy	HP:0000648
25836	NIPBL	Macrotia	HP:0000400
25836	NIPBL	High, narrow palate	HP:0002705
25836	NIPBL	Severe postnatal growth retardation	HP:0008850
25836	NIPBL	Conductive hearing impairment	HP:0000405
25836	NIPBL	Sensorineural hearing impairment	HP:0000407
25836	NIPBL	Proximal placement of thumb	HP:0009623
25836	NIPBL	Synophrys	HP:0000664
25836	NIPBL	Downturned corners of mouth	HP:0002714
25836	NIPBL	Phthisis bulbi	HP:0000667
25836	NIPBL	Hand oligodactyly	HP:0001180
25836	NIPBL	Atresia of the external auditory canal	HP:0000413
25836	NIPBL	Hypoplastic radial head	HP:0003997
25836	NIPBL	Radioulnar synostosis	HP:0002974
25836	NIPBL	Depressed nasal bridge	HP:0005280
25836	NIPBL	Sporadic	HP:0003745
25836	NIPBL	Truncal obesity	HP:0001956
25836	NIPBL	Micromelia	HP:0002983
25836	NIPBL	Feeding difficulties in infancy	HP:0008872
25836	NIPBL	Hypoplasia of the radius	HP:0002984
25836	NIPBL	Elbow flexion contracture	HP:0002987
25836	NIPBL	Delayed eruption of teeth	HP:0000684
25836	NIPBL	Bilateral single transverse palmar creases	HP:0007598
25836	NIPBL	Cleft palate	HP:0000175
25836	NIPBL	Widely spaced teeth	HP:0000687
25836	NIPBL	Malrotation of colon	HP:0004785
25836	NIPBL	Generalized hirsutism	HP:0002230
25836	NIPBL	Supernumerary ribs	HP:0005815
25836	NIPBL	Single transverse palmar crease	HP:0000954
25836	NIPBL	Reduced renal corticomedullary differentiation	HP:0005565
25836	NIPBL	Delayed skeletal maturation	HP:0002750
25836	NIPBL	Aplasia/Hypoplasia of the cerebellum	HP:0007360
25836	NIPBL	Behavioral abnormality	HP:0000708
25836	NIPBL	Cutis marmorata	HP:0000965
25836	NIPBL	Choanal atresia	HP:0000453
25836	NIPBL	Cleft upper lip	HP:0000204
25836	NIPBL	Autism	HP:0000717
25836	NIPBL	Anteverted nares	HP:0000463
25836	NIPBL	Obsessive-compulsive behavior	HP:0000722
25836	NIPBL	Short neck	HP:0000470
25836	NIPBL	High palate	HP:0000218
25836	NIPBL	Thin upper lip vermilion	HP:0000219
25836	NIPBL	Intellectual disability	HP:0001249
25836	NIPBL	Elbow dislocation	HP:0003042
25836	NIPBL	Microcornea	HP:0000482
25836	NIPBL	Short stature	HP:0004322
25836	NIPBL	Seizures	HP:0001250
25836	NIPBL	Anxiety	HP:0000739
25836	NIPBL	Astigmatism	HP:0000483
25836	NIPBL	Muscular hypotonia	HP:0001252
25836	NIPBL	Gastroesophageal reflux	HP:0002020
25836	NIPBL	Failure to thrive	HP:0001508
25836	NIPBL	Pyloric stenosis	HP:0002021
25836	NIPBL	Strabismus	HP:0000486
25836	NIPBL	Intrauterine growth retardation	HP:0001511
25836	NIPBL	Thin vermilion border	HP:0000233
25836	NIPBL	Toe syndactyly	HP:0001770
25836	NIPBL	Short foot	HP:0001773
25836	NIPBL	Delayed speech and language development	HP:0000750
25836	NIPBL	Hirsutism	HP:0001007
25836	NIPBL	Curly eyelashes	HP:0007665
25836	NIPBL	Blepharitis	HP:0000498
25836	NIPBL	Hiatus hernia	HP:0002036
25836	NIPBL	Glaucoma	HP:0000501
25836	NIPBL	Brachycephaly	HP:0000248
25836	NIPBL	Highly arched eyebrow	HP:0002553
25836	NIPBL	Hypertonia	HP:0001276
25836	NIPBL	Microcephaly	HP:0000252
25836	NIPBL	Ptosis	HP:0000508
25836	NIPBL	Abnormal incisura morphology	HP:0031228
25836	NIPBL	Hypoplastic nipples	HP:0002557
25836	NIPBL	Pectus excavatum	HP:0000767
1261	CNGA3	Abnormal electroretinogram	HP:0000512
1261	CNGA3	Exotropia	HP:0000577
1261	CNGA3	Attenuation of retinal blood vessels	HP:0007843
1261	CNGA3	Blue cone monochromacy	HP:0007939
1261	CNGA3	Photophobia	HP:0000613
1261	CNGA3	Hypoplasia of the fovea	HP:0007750
1261	CNGA3	Autosomal recessive inheritance	HP:0000007
1261	CNGA3	Color vision defect	HP:0000551
1261	CNGA3	Blindness	HP:0000618
1261	CNGA3	Retinal pigment epithelial atrophy	HP:0007722
1261	CNGA3	Pendular nystagmus	HP:0012043
1261	CNGA3	Hemeralopia	HP:0012047
1261	CNGA3	Granular macular appearance	HP:0007793
1261	CNGA3	Nyctalopia	HP:0000662
1261	CNGA3	Abnormality of retinal pigmentation	HP:0007703
1261	CNGA3	Visual impairment	HP:0000505
1261	CNGA3	Dyschromatopsia	HP:0007641
1261	CNGA3	Central scotoma	HP:0000603
1261	CNGA3	Achromatopsia	HP:0011516
1261	CNGA3	Hypermetropia	HP:0000540
1261	CNGA3	Nystagmus	HP:0000639
115948	CCDC151	Absent outer dynein arms	HP:0012256
115948	CCDC151	Situs inversus totalis	HP:0001696
115948	CCDC151	Nasal polyposis	HP:0100582
115948	CCDC151	Autosomal recessive inheritance	HP:0000007
115948	CCDC151	Ciliary dyskinesia	HP:0012265
115948	CCDC151	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
115948	CCDC151	Nasal obstruction	HP:0001742
115948	CCDC151	Recurrent otitis media	HP:0000403
115948	CCDC151	Asthma	HP:0002099
115948	CCDC151	Chronic bronchitis	HP:0004469
115948	CCDC151	Recurrent respiratory infections	HP:0002205
115948	CCDC151	Bronchiectasis	HP:0002110
115948	CCDC151	Cough	HP:0012735
25839	COG4	Pectus carinatum	HP:0000768
25839	COG4	Wide anterior fontanel	HP:0000260
25839	COG4	Cataract	HP:0000518
25839	COG4	Autosomal recessive inheritance	HP:0000007
25839	COG4	Proptosis	HP:0000520
25839	COG4	Generalized hypotonia	HP:0001290
25839	COG4	Thick hair	HP:0100874
25839	COG4	Cerebral atrophy	HP:0002059
25839	COG4	Type II transferrin isoform profile	HP:0012301
25839	COG4	Malar flattening	HP:0000272
25839	COG4	Nyctalopia	HP:0000662
25839	COG4	Hepatosplenomegaly	HP:0001433
25839	COG4	Short distal phalanx of finger	HP:0009882
25839	COG4	Recurrent respiratory infections	HP:0002205
25839	COG4	Platyspondyly	HP:0000926
25839	COG4	Hypoplasia of the corpus callosum	HP:0002079
25839	COG4	Complex febrile seizures	HP:0011172
25839	COG4	Hypercholesterolemia	HP:0003124
25839	COG4	Fatal liver failure in infancy	HP:0006583
25839	COG4	Short palm	HP:0004279
25839	COG4	Abnormality of the coagulation cascade	HP:0003256
25839	COG4	Overhanging nasal tip	HP:0011833
25839	COG4	Convex nasal ridge	HP:0000444
25839	COG4	Recurrent infection of the gastrointestinal tract	HP:0004798
25839	COG4	Narrow nasal bridge	HP:0000446
25839	COG4	Hepatomegaly	HP:0002240
25839	COG4	Absent speech	HP:0001344
25839	COG4	Feeding difficulties	HP:0011968
25839	COG4	Short metacarpal	HP:0010049
25839	COG4	Postnatal growth retardation	HP:0008897
25839	COG4	Hyperreflexia	HP:0001347
25839	COG4	Abnormal protein O-linked glycosylation	HP:0012358
25839	COG4	Flared metaphysis	HP:0003015
25839	COG4	Limb hypertonia	HP:0002509
25839	COG4	Intermittent diarrhea	HP:0002254
25839	COG4	Abnormal facial shape	HP:0001999
25839	COG4	Splenomegaly	HP:0001744
25839	COG4	Blue sclerae	HP:0000592
25839	COG4	Thrombocytopenia	HP:0001873
25839	COG4	Elevated alkaline phosphatase	HP:0003155
25839	COG4	Sloping forehead	HP:0000340
25839	COG4	Prominent forehead	HP:0011220
25839	COG4	Frontal bossing	HP:0002007
25839	COG4	Micrognathia	HP:0000347
25839	COG4	Elevated hepatic transaminase	HP:0002910
25839	COG4	Irritability	HP:0000737
25839	COG4	Seizures	HP:0001250
25839	COG4	Talipes equinovarus	HP:0001762
25839	COG4	Short stature	HP:0004322
25839	COG4	Ataxia	HP:0001251
25839	COG4	Failure to thrive	HP:0001508
25839	COG4	Recurrent upper respiratory tract infections	HP:0002788
25839	COG4	Growth delay	HP:0001510
25839	COG4	Irregularity of vertebral bodies	HP:0004582
25839	COG4	Generalized neonatal hypotonia	HP:0008935
25839	COG4	Intrauterine growth retardation	HP:0001511
25839	COG4	Muscular hypotonia of the trunk	HP:0008936
25839	COG4	Chronic diarrhea	HP:0002028
25839	COG4	Frontotemporal cerebral atrophy	HP:0006892
25839	COG4	Delayed speech and language development	HP:0000750
25839	COG4	Global developmental delay	HP:0001263
25839	COG4	Hypoplasia of the odontoid process	HP:0003311
25839	COG4	Cirrhosis	HP:0001394
25839	COG4	Small hand	HP:0200055
25839	COG4	Motor delay	HP:0001270
25839	COG4	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
25839	COG4	Hepatic failure	HP:0001399
25839	COG4	Short metatarsal	HP:0010743
25839	COG4	Prominent superficial veins	HP:0001015
25839	COG4	Failure to thrive in infancy	HP:0001531
25839	COG4	Neonatal sepsis	HP:0040187
25839	COG4	Hypertonia	HP:0001276
25839	COG4	Microcephaly	HP:0000252
25839	COG4	Nystagmus	HP:0000639
25839	COG4	Pectus excavatum	HP:0000767
9455	HOMER2	Autosomal dominant inheritance	HP:0000006
9455	HOMER2	Sensorineural hearing impairment	HP:0000407
9459	ARHGEF6	Intellectual disability	HP:0001249
1272	CNTN1	Akinesia	HP:0002304
1272	CNTN1	Joint contracture of the hand	HP:0009473
1272	CNTN1	Camptodactyly	HP:0012385
1272	CNTN1	Areflexia	HP:0001284
1272	CNTN1	Fetal akinesia sequence	HP:0001989
1272	CNTN1	Autosomal recessive inheritance	HP:0000007
1272	CNTN1	Neonatal hypotonia	HP:0001319
1272	CNTN1	Dolichocephaly	HP:0000268
1272	CNTN1	Oval face	HP:0000300
1272	CNTN1	Small for gestational age	HP:0001518
1272	CNTN1	Arachnodactyly	HP:0001166
1272	CNTN1	Scaphocephaly	HP:0030799
1272	CNTN1	High, narrow palate	HP:0002705
1272	CNTN1	Poor suck	HP:0002033
1272	CNTN1	Death in infancy	HP:0001522
1272	CNTN1	Decreased fetal movement	HP:0001558
1272	CNTN1	Polyhydramnios	HP:0001561
1272	CNTN1	High palate	HP:0000218
1272	CNTN1	Respiratory insufficiency due to muscle weakness	HP:0002747
1272	CNTN1	Hypertelorism	HP:0000316
1272	CNTN1	Overlapping fingers	HP:0010557
1277	COL1A1	Pectus carinatum	HP:0000768
1277	COL1A1	Umbilical hernia	HP:0001537
1277	COL1A1	Urticaria	HP:0001025
1277	COL1A1	Wide anterior fontanel	HP:0000260
1277	COL1A1	Autosomal dominant inheritance	HP:0000006
1277	COL1A1	Autosomal recessive inheritance	HP:0000007
1277	COL1A1	Proptosis	HP:0000520
1277	COL1A1	Severe generalized osteoporosis	HP:0005897
1277	COL1A1	Generalized hypotonia	HP:0001290
1277	COL1A1	Hip dislocation	HP:0002827
1277	COL1A1	Premature osteoarthritis	HP:0003088
1277	COL1A1	Malar flattening	HP:0000272
1277	COL1A1	Narrow face	HP:0000275
1277	COL1A1	Reduced consciousness/confusion	HP:0004372
1277	COL1A1	Retrognathia	HP:0000278
1277	COL1A1	Inguinal hernia	HP:0000023
1277	COL1A1	Midface retrusion	HP:0011800
1277	COL1A1	Slender long bone	HP:0003100
1277	COL1A1	Migraine	HP:0002076
1277	COL1A1	Retinal detachment	HP:0000541
1277	COL1A1	Epicanthus	HP:0000286
1277	COL1A1	Erythema	HP:0010783
1277	COL1A1	Myopia	HP:0000545
1277	COL1A1	Echolalia	HP:0010529
1277	COL1A1	Poor wound healing	HP:0001058
1277	COL1A1	Acrocyanosis	HP:0001063
1277	COL1A1	Striae distensae	HP:0001065
1277	COL1A1	Pulmonary arterial hypertension	HP:0002092
1277	COL1A1	Muscle weakness	HP:0001324
1277	COL1A1	Respiratory insufficiency	HP:0002093
1277	COL1A1	Thickened skin	HP:0001072
1277	COL1A1	Emphysema	HP:0002097
1277	COL1A1	Asthma	HP:0002099
1277	COL1A1	Atrophic scars	HP:0001075
1277	COL1A1	Muscle flaccidity	HP:0010547
1277	COL1A1	Cellulitis	HP:0100658
1277	COL1A1	Dysphasia	HP:0002357
1277	COL1A1	Hypertension	HP:0000822
1277	COL1A1	Hypotension	HP:0002615
1277	COL1A1	Open bite	HP:0010807
1277	COL1A1	Pneumothorax	HP:0002107
1277	COL1A1	Ectopia lentis	HP:0001083
1277	COL1A1	Joint hyperflexibility	HP:0005692
1277	COL1A1	Hypertelorism	HP:0000316
1277	COL1A1	Periosteal thickening of long tubular bones	HP:0006465
1277	COL1A1	Facial asymmetry	HP:0000324
1277	COL1A1	Triangular face	HP:0000325
1277	COL1A1	Reduced number of teeth	HP:0009804
1277	COL1A1	Congenital bilateral hip dislocation	HP:0008780
1277	COL1A1	Aphasia	HP:0002381
1277	COL1A1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
1277	COL1A1	Aortic aneurysm	HP:0004942
1277	COL1A1	Blue sclerae	HP:0000592
1277	COL1A1	Abnormality of pelvic girdle bone morphology	HP:0002644
1277	COL1A1	Wormian bones	HP:0002645
1277	COL1A1	Premature birth	HP:0001622
1277	COL1A1	Breech presentation	HP:0001623
1277	COL1A1	Scoliosis	HP:0002650
1277	COL1A1	Fatigue	HP:0012378
1277	COL1A1	Scarring	HP:0100699
1277	COL1A1	Micrognathia	HP:0000347
1277	COL1A1	Abnormal renal tubule morphology	HP:0000091
1277	COL1A1	Joint dislocation	HP:0001373
1277	COL1A1	Atrial septal defect	HP:0001631
1277	COL1A1	Keratoglobus	HP:0001119
1277	COL1A1	Papule	HP:0200034
1277	COL1A1	Decreased calvarial ossification	HP:0005474
1277	COL1A1	Mitral valve prolapse	HP:0001634
1277	COL1A1	Hyperesthesia	HP:0100963
1277	COL1A1	Increased susceptibility to fractures	HP:0002659
1277	COL1A1	Congestive heart failure	HP:0001635
1277	COL1A1	Cortical irregularity	HP:0005731
1277	COL1A1	Joint hypermobility	HP:0001382
1277	COL1A1	Hip dysplasia	HP:0001385
1277	COL1A1	Skin ulcer	HP:0200042
1277	COL1A1	Ascending tubular aorta aneurysm	HP:0004970
1277	COL1A1	Otosclerosis	HP:0000362
1277	COL1A1	Protrusio acetabuli	HP:0003179
1277	COL1A1	Corneal dystrophy	HP:0001131
1277	COL1A1	Joint stiffness	HP:0001387
1277	COL1A1	Joint laxity	HP:0001388
1277	COL1A1	Hearing impairment	HP:0000365
1277	COL1A1	Avascular necrosis of the capital femoral epiphysis	HP:0005743
1277	COL1A1	Hypoplasia of the ear cartilage	HP:0100720
1277	COL1A1	Coxa valga	HP:0002673
1277	COL1A1	Malar prominence	HP:0010620
1277	COL1A1	Basilar impression	HP:0005758
1277	COL1A1	Platybasia	HP:0002691
1277	COL1A1	Neoplasm of the skin	HP:0008069
1277	COL1A1	Calvarial hyperostosis	HP:0004490
1277	COL1A1	Femoral bowing present at birth, straightening with time	HP:0005005
1277	COL1A1	Arachnodactyly	HP:0001166
1277	COL1A1	High, narrow palate	HP:0002705
1277	COL1A1	Delayed gross motor development	HP:0002194
1277	COL1A1	Fibrosarcoma	HP:0100244
1277	COL1A1	Fever	HP:0001945
1277	COL1A1	Beaded ribs	HP:0000923
1277	COL1A1	Abnormality of the tongue	HP:0000157
1277	COL1A1	Platyspondyly	HP:0000926
1277	COL1A1	Cortical thickening of long bone diaphyses	HP:0005791
1277	COL1A1	Depressed nasal bridge	HP:0005280
1277	COL1A1	Femoral bowing	HP:0002980
1277	COL1A1	Tibial bowing	HP:0002982
1277	COL1A1	Tricuspid valve prolapse	HP:0001704
1277	COL1A1	Abnormality of the gingiva	HP:0000168
1277	COL1A1	Feeding difficulties in infancy	HP:0008872
1277	COL1A1	Disproportionate short-limb short stature	HP:0008873
1277	COL1A1	Osteopenia	HP:0000938
1277	COL1A1	Venous insufficiency	HP:0005293
1277	COL1A1	Arterial dissection	HP:0005294
1277	COL1A1	Mild short stature	HP:0003502
1277	COL1A1	Wide nasal bridge	HP:0000431
1277	COL1A1	Dental malocclusion	HP:0000689
1277	COL1A1	Microdontia	HP:0000691
1277	COL1A1	Severe short stature	HP:0003510
1277	COL1A1	Femoral hernia	HP:0100541
1277	COL1A1	Convex nasal ridge	HP:0000444
1277	COL1A1	Cognitive impairment	HP:0100543
1277	COL1A1	Dentinogenesis imperfecta	HP:0000703
1277	COL1A1	Abnormality of the nervous system	HP:0000707
1277	COL1A1	Thin skin	HP:0000963
1277	COL1A1	Eczema	HP:0000964
1277	COL1A1	Behavioral abnormality	HP:0000708
1277	COL1A1	Recurrent fractures	HP:0002757
1277	COL1A1	Osteoarthritis	HP:0002758
1277	COL1A1	Petechiae	HP:0000967
1277	COL1A1	Subcutaneous nodule	HP:0001482
1277	COL1A1	Pulmonary insufficiency	HP:0010444
1277	COL1A1	Hyperextensible skin	HP:0000974
1277	COL1A1	Increased antibody level in blood	HP:0010702
1277	COL1A1	Bowing of limbs due to multiple fractures	HP:0003023
1277	COL1A1	Soft skin	HP:0000977
1277	COL1A1	Bruising susceptibility	HP:0000978
1277	COL1A1	Long thorax	HP:0100818
1277	COL1A1	Genital hernia	HP:0100823
1277	COL1A1	Frontal bossing	HP:0002007
1277	COL1A1	Neonatal short-limb short stature	HP:0008921
1277	COL1A1	Atypical scarring of skin	HP:0000987
1277	COL1A1	Multiple prenatal fractures	HP:0005855
1277	COL1A1	Crumpled long bones	HP:0006367
1277	COL1A1	Short stature	HP:0004322
1277	COL1A1	Microcornea	HP:0000482
1277	COL1A1	Spina bifida occulta	HP:0003298
1277	COL1A1	Pes planus	HP:0001763
1277	COL1A1	Growth abnormality	HP:0001507
1277	COL1A1	Muscular hypotonia	HP:0001252
1277	COL1A1	Cachexia	HP:0004326
1277	COL1A1	Abnormality of subcutaneous fat tissue	HP:0001001
1277	COL1A1	Biconcave vertebral bodies	HP:0004586
1277	COL1A1	Hyperlordosis	HP:0003307
1277	COL1A1	Small for gestational age	HP:0001518
1277	COL1A1	Large fontanelles	HP:0000239
1277	COL1A1	Abnormal nasal morphology	HP:0005105
1277	COL1A1	Hiatus hernia	HP:0002036
1277	COL1A1	Glaucoma	HP:0000501
1277	COL1A1	Broad long bones	HP:0005622
1277	COL1A1	Absent ossification of calvaria	HP:0005623
1277	COL1A1	Kyphosis	HP:0002808
1277	COL1A1	Shagreen patch	HP:0009721
1277	COL1A1	Biconcave flattened vertebrae	HP:0003321
1277	COL1A1	Coxa vara	HP:0002812
1277	COL1A1	Mutism	HP:0002300
1277	COL1A1	Abnormality of the thorax	HP:0000765
1277	COL1A1	Reduced bone mineral density	HP:0004349
1277	COL1A1	Myalgia	HP:0003326
1277	COL1A1	Nonimmune hydrops fetalis	HP:0001790
9469	CHST3	Pectus carinatum	HP:0000768
9469	CHST3	Short femoral neck	HP:0100864
9469	CHST3	Narrow vertebral interpedicular distance	HP:0008450
9469	CHST3	Autosomal dominant inheritance	HP:0000006
9469	CHST3	Narrow chest	HP:0000774
9469	CHST3	Autosomal recessive inheritance	HP:0000007
9469	CHST3	Congenital diaphragmatic hernia	HP:0000776
9469	CHST3	Generalized hypotonia	HP:0001290
9469	CHST3	Hip dislocation	HP:0002827
9469	CHST3	Arthralgia	HP:0002829
9469	CHST3	Barrel-shaped chest	HP:0001552
9469	CHST3	Hypoplasia of the capital femoral epiphysis	HP:0003090
9469	CHST3	Small face	HP:0000274
9469	CHST3	Sparse eyebrow	HP:0045075
9469	CHST3	Limited hip extension	HP:0003093
9469	CHST3	Sparse and thin eyebrow	HP:0000535
9469	CHST3	Inguinal hernia	HP:0000023
9469	CHST3	Midface retrusion	HP:0011800
9469	CHST3	Hypermetropia	HP:0000540
9469	CHST3	Genu valgum	HP:0002857
9469	CHST3	Pulmonary arterial hypertension	HP:0002092
9469	CHST3	Metatarsus adductus	HP:0001840
9469	CHST3	Microretrognathia	HP:0000308
9469	CHST3	Esotropia	HP:0000565
9469	CHST3	Aortic root aneurysm	HP:0002616
9469	CHST3	Hypertelorism	HP:0000316
9469	CHST3	Tricuspid regurgitation	HP:0005180
9469	CHST3	Sandal gap	HP:0001852
9469	CHST3	Generalized bone demineralization	HP:0006462
9469	CHST3	Thick eyebrow	HP:0000574
9469	CHST3	Multiple joint dislocation	HP:0012095
9469	CHST3	Developmental glaucoma	HP:0001087
9469	CHST3	Short metacarpal	HP:0010049
9469	CHST3	Abnormally large globe	HP:0001090
9469	CHST3	Fixed elbow flexion	HP:0006471
9469	CHST3	Blue sclerae	HP:0000592
9469	CHST3	Flat face	HP:0012368
9469	CHST3	Broad forehead	HP:0000337
9469	CHST3	Irregular epiphyses	HP:0010582
9469	CHST3	Long philtrum	HP:0000343
9469	CHST3	Coronal cleft vertebrae	HP:0003417
9469	CHST3	Small epiphyses	HP:0010585
9469	CHST3	Scoliosis	HP:0002650
9469	CHST3	Flexion contracture	HP:0001371
9469	CHST3	Ventricular septal defect	HP:0001629
9469	CHST3	Spondyloepiphyseal dysplasia	HP:0002655
9469	CHST3	Mitral valve prolapse	HP:0001634
9469	CHST3	Microtia	HP:0008551
9469	CHST3	Cardiomegaly	HP:0001640
9469	CHST3	Pulmonic stenosis	HP:0001642
9469	CHST3	Joint laxity	HP:0001388
9469	CHST3	Hearing impairment	HP:0000365
9469	CHST3	11 pairs of ribs	HP:0000878
9469	CHST3	Bicuspid aortic valve	HP:0001647
9469	CHST3	Decreased hip abduction	HP:0003184
9469	CHST3	Knee dislocation	HP:0004976
9469	CHST3	Low-set ears	HP:0000369
9469	CHST3	Aortic valve stenosis	HP:0001650
9469	CHST3	Low posterior hairline	HP:0002162
9469	CHST3	Mitral regurgitation	HP:0001653
9469	CHST3	Patent foramen ovale	HP:0001655
9469	CHST3	Lumbar hyperlordosis	HP:0002938
9469	CHST3	Aortic regurgitation	HP:0001659
9469	CHST3	Intervertebral space narrowing	HP:0002945
9469	CHST3	Brachydactyly	HP:0001156
9469	CHST3	Amblyopia	HP:0000646
9469	CHST3	Camptodactyly of finger	HP:0100490
9469	CHST3	Prominent antitragus	HP:0008593
9469	CHST3	Shield chest	HP:0000914
9469	CHST3	Delayed gross motor development	HP:0002194
9469	CHST3	Cubitus valgus	HP:0002967
9469	CHST3	Broad distal phalanges of all fingers	HP:0009880
9469	CHST3	Short distal phalanx of finger	HP:0009882
9469	CHST3	Bilateral elbow dislocations	HP:0005021
9469	CHST3	Radioulnar synostosis	HP:0002974
9469	CHST3	Depressed nasal bridge	HP:0005280
9469	CHST3	Narrow mouth	HP:0000160
9469	CHST3	Tibial bowing	HP:0002982
9469	CHST3	Osteopenia	HP:0000938
9469	CHST3	Osteoporosis	HP:0000939
9469	CHST3	Elbow flexion contracture	HP:0002987
9469	CHST3	Delayed eruption of teeth	HP:0000684
9469	CHST3	Bilateral single transverse palmar creases	HP:0007598
9469	CHST3	Widely spaced teeth	HP:0000687
9469	CHST3	Cleft palate	HP:0000175
9469	CHST3	Left ventricular hypertrophy	HP:0001712
9469	CHST3	Ventricular hypertrophy	HP:0001714
9469	CHST3	Microdontia	HP:0000691
9469	CHST3	Multiple carpal ossification centers	HP:0006067
9469	CHST3	Mitral stenosis	HP:0001718
9469	CHST3	Delayed skeletal maturation	HP:0002750
9469	CHST3	Kyphoscoliosis	HP:0002751
9469	CHST3	Disproportionate short-trunk short stature	HP:0003521
9469	CHST3	Recurrent fractures	HP:0002757
9469	CHST3	Spatulate thumbs	HP:0001222
9469	CHST3	Rhizomelia	HP:0008905
9469	CHST3	Abnormality of the abdominal wall	HP:0004298
9469	CHST3	Cutis laxa	HP:0000973
9469	CHST3	Hypoplasia of the ulna	HP:0003022
9469	CHST3	Tricuspid stenosis	HP:0010446
9469	CHST3	Hyperextensible skin	HP:0000974
9469	CHST3	Webbed neck	HP:0000465
9469	CHST3	Wide intermamillary distance	HP:0006610
9469	CHST3	Waddling gait	HP:0002515
9469	CHST3	Metacarpophalangeal joint hyperextensibility	HP:0006099
9469	CHST3	Prominent forehead	HP:0011220
9469	CHST3	Short neck	HP:0000470
9469	CHST3	Ulnar bowing	HP:0003031
9469	CHST3	Frontal bossing	HP:0002007
9469	CHST3	Abnormality of cardiovascular system morphology	HP:0030680
9469	CHST3	High palate	HP:0000218
9469	CHST3	Deviation of the 5th finger	HP:0009179
9469	CHST3	Enlarged joints	HP:0003037
9469	CHST3	Arthropathy	HP:0003040
9469	CHST3	Generalized osteoporosis	HP:0040160
9469	CHST3	Talipes equinovarus	HP:0001762
9469	CHST3	Elbow dislocation	HP:0003042
9469	CHST3	Short stature	HP:0004322
9469	CHST3	Pes planus	HP:0001763
9469	CHST3	Muscular hypotonia	HP:0001252
9469	CHST3	Irregular vertebral endplates	HP:0003301
9469	CHST3	Enlarged metaphyses	HP:0003051
9469	CHST3	Talipes equinovalgus	HP:0001772
9469	CHST3	Downslanted palpebral fissures	HP:0000494
9469	CHST3	Hydrocephalus	HP:0000238
9469	CHST3	Accelerated skeletal maturation	HP:0005616
9469	CHST3	Abnormal form of the vertebral bodies	HP:0003312
9469	CHST3	Motor delay	HP:0001270
9469	CHST3	Brachycephaly	HP:0000248
9469	CHST3	Highly arched eyebrow	HP:0002553
9469	CHST3	Shoulder dislocation	HP:0003834
9469	CHST3	Flattened epiphysis	HP:0003071
1278	COL1A2	Genu recurvatum	HP:0002816
1278	COL1A2	Platybasia	HP:0002691
1278	COL1A2	Wide anterior fontanel	HP:0000260
1278	COL1A2	Autosomal dominant inheritance	HP:0000006
1278	COL1A2	Fragile skin	HP:0001030
1278	COL1A2	Autosomal recessive inheritance	HP:0000007
1278	COL1A2	Severe generalized osteoporosis	HP:0005897
1278	COL1A2	Generalized hypotonia	HP:0001290
1278	COL1A2	Hip dislocation	HP:0002827
1278	COL1A2	Femoral bowing present at birth, straightening with time	HP:0005005
1278	COL1A2	Delayed gross motor development	HP:0002194
1278	COL1A2	Retrognathia	HP:0000278
1278	COL1A2	Inguinal hernia	HP:0000023
1278	COL1A2	Beaded ribs	HP:0000923
1278	COL1A2	Slender long bone	HP:0003100
1278	COL1A2	Epicanthus	HP:0000286
1278	COL1A2	Platyspondyly	HP:0000926
1278	COL1A2	Hallux valgus	HP:0001822
1278	COL1A2	Depressed nasal bridge	HP:0005280
1278	COL1A2	Echolalia	HP:0010529
1278	COL1A2	Hyperextensibility of the finger joints	HP:0001187
1278	COL1A2	Tibial bowing	HP:0002982
1278	COL1A2	Disproportionate short-limb short stature	HP:0008873
1278	COL1A2	Pulmonary arterial hypertension	HP:0002092
1278	COL1A2	Respiratory insufficiency	HP:0002093
1278	COL1A2	Muscle flaccidity	HP:0010547
1278	COL1A2	Atrophic scars	HP:0001075
1278	COL1A2	Dysphasia	HP:0002357
1278	COL1A2	Severe short stature	HP:0003510
1278	COL1A2	Calcaneovalgus deformity	HP:0001848
1278	COL1A2	Femoral hernia	HP:0100541
1278	COL1A2	Hypertelorism	HP:0000316
1278	COL1A2	Joint hyperflexibility	HP:0005692
1278	COL1A2	Convex nasal ridge	HP:0000444
1278	COL1A2	Dentinogenesis imperfecta	HP:0000703
1278	COL1A2	Abnormality of the nervous system	HP:0000707
1278	COL1A2	Thin skin	HP:0000963
1278	COL1A2	Triangular face	HP:0000325
1278	COL1A2	Recurrent fractures	HP:0002757
1278	COL1A2	Pulmonary insufficiency	HP:0010444
1278	COL1A2	Aphasia	HP:0002381
1278	COL1A2	Hyperextensible skin	HP:0000974
1278	COL1A2	Bowing of limbs due to multiple fractures	HP:0003023
1278	COL1A2	Blue sclerae	HP:0000592
1278	COL1A2	Soft skin	HP:0000977
1278	COL1A2	Bruising susceptibility	HP:0000978
1278	COL1A2	Abnormality of pelvic girdle bone morphology	HP:0002644
1278	COL1A2	Wormian bones	HP:0002645
1278	COL1A2	Premature birth	HP:0001622
1278	COL1A2	Frontal bossing	HP:0002007
1278	COL1A2	Neonatal short-limb short stature	HP:0008921
1278	COL1A2	Scoliosis	HP:0002650
1278	COL1A2	Scarring	HP:0100699
1278	COL1A2	Micrognathia	HP:0000347
1278	COL1A2	Multiple prenatal fractures	HP:0005855
1278	COL1A2	Crumpled long bones	HP:0006367
1278	COL1A2	Decreased calvarial ossification	HP:0005474
1278	COL1A2	Short stature	HP:0004322
1278	COL1A2	Mitral valve prolapse	HP:0001634
1278	COL1A2	Talipes equinovarus	HP:0001762
1278	COL1A2	Congestive heart failure	HP:0001635
1278	COL1A2	Pes planus	HP:0001763
1278	COL1A2	Muscular hypotonia	HP:0001252
1278	COL1A2	Abnormality of subcutaneous fat tissue	HP:0001001
1278	COL1A2	Hip dysplasia	HP:0001385
1278	COL1A2	Biconcave vertebral bodies	HP:0004586
1278	COL1A2	Otosclerosis	HP:0000362
1278	COL1A2	Protrusio acetabuli	HP:0003179
1278	COL1A2	Joint stiffness	HP:0001387
1278	COL1A2	Hyperlordosis	HP:0003307
1278	COL1A2	Joint laxity	HP:0001388
1278	COL1A2	Hearing impairment	HP:0000365
1278	COL1A2	Small for gestational age	HP:0001518
1278	COL1A2	Avascular necrosis of the capital femoral epiphysis	HP:0005743
1278	COL1A2	Large fontanelles	HP:0000239
1278	COL1A2	Coxa valga	HP:0002673
1278	COL1A2	Mitral regurgitation	HP:0001653
1278	COL1A2	Broad long bones	HP:0005622
1278	COL1A2	Absent ossification of calvaria	HP:0005623
1278	COL1A2	Kyphosis	HP:0002808
1278	COL1A2	Biconcave flattened vertebrae	HP:0003321
1278	COL1A2	Aortic regurgitation	HP:0001659
1278	COL1A2	Coxa vara	HP:0002812
1278	COL1A2	Mutism	HP:0002300
1278	COL1A2	Abnormality of the thorax	HP:0000765
1278	COL1A2	Reduced bone mineral density	HP:0004349
1278	COL1A2	Basilar impression	HP:0005758
1278	COL1A2	Nonimmune hydrops fetalis	HP:0001790
1278	COL1A2	Pectus excavatum	HP:0000767
1280	COL2A1	Shortening of all proximal phalanges of the fingers	HP:0006144
1280	COL2A1	Umbilical hernia	HP:0001537
1280	COL2A1	Short femoral neck	HP:0100864
1280	COL2A1	Protuberant abdomen	HP:0001538
1280	COL2A1	Cataract	HP:0000518
1280	COL2A1	Autosomal dominant inheritance	HP:0000006
1280	COL2A1	Proptosis	HP:0000520
1280	COL2A1	Lumbar kyphoscoliosis	HP:0004619
1280	COL2A1	Barrel-shaped chest	HP:0001552
1280	COL2A1	Hypoplasia of the capital femoral epiphysis	HP:0003090
1280	COL2A1	Inguinal hernia	HP:0000023
1280	COL2A1	Midface retrusion	HP:0011800
1280	COL2A1	Polyhydramnios	HP:0001561
1280	COL2A1	Short femur	HP:0003097
1280	COL2A1	Heberden's node	HP:0012313
1280	COL2A1	Flattened, squared-off epiphyses of tubular bones	HP:0006172
1280	COL2A1	Retinal detachment	HP:0000541
1280	COL2A1	Myopia	HP:0000545
1280	COL2A1	Broad thumb	HP:0011304
1280	COL2A1	Pulmonary hypoplasia	HP:0002089
1280	COL2A1	Restrictive ventilatory defect	HP:0002091
1280	COL2A1	Submucous cleft soft palate	HP:0011819
1280	COL2A1	Aplasia/Hypoplasia of the lungs	HP:0006703
1280	COL2A1	Respiratory distress	HP:0002098
1280	COL2A1	Short thumb	HP:0009778
1280	COL2A1	Ectopia lentis	HP:0001083
1280	COL2A1	Joint hyperflexibility	HP:0005692
1280	COL2A1	Visual loss	HP:0000572
1280	COL2A1	Short thorax	HP:0010306
1280	COL2A1	Multiple enchondromatosis	HP:0005701
1280	COL2A1	Short distal phalanx of the 4th finger	HP:0009290
1280	COL2A1	Short phalanx of finger	HP:0009803
1280	COL2A1	Abnormal cartilage collagen	HP:0008271
1280	COL2A1	Flat face	HP:0012368
1280	COL2A1	Lethal skeletal dysplasia	HP:0005716
1280	COL2A1	Abnormality of pelvic girdle bone morphology	HP:0002644
1280	COL2A1	Delayed pubic bone ossification	HP:0008788
1280	COL2A1	Metaphyseal dappling	HP:0011860
1280	COL2A1	Short distal phalanx of the 3rd finger	HP:0004180
1280	COL2A1	Scoliosis	HP:0002650
1280	COL2A1	Spondyloepimetaphyseal dysplasia	HP:0002651
1280	COL2A1	Skeletal dysplasia	HP:0002652
1280	COL2A1	Vitreoretinopathy	HP:0007773
1280	COL2A1	Spondyloepiphyseal dysplasia	HP:0002655
1280	COL2A1	Epiphyseal dysplasia	HP:0002656
1280	COL2A1	Limited hip movement	HP:0008800
1280	COL2A1	Spondylometaphyseal dysplasia	HP:0002657
1280	COL2A1	Mitral valve prolapse	HP:0001634
1280	COL2A1	Tetralogy of Fallot	HP:0001636
1280	COL2A1	Hypoplastic pubic bone	HP:0003173
1280	COL2A1	Hypoplastic ischia	HP:0003175
1280	COL2A1	Delayed epiphyseal ossification	HP:0002663
1280	COL2A1	Blindness	HP:0000618
1280	COL2A1	Flat acetabular roof	HP:0003180
1280	COL2A1	Avascular necrosis of the capital femoral epiphysis	HP:0005743
1280	COL2A1	Coxa valga	HP:0002673
1280	COL2A1	Narrow femoral neck	HP:0008819
1280	COL2A1	Retinal thinning	HP:0030329
1280	COL2A1	Short nose	HP:0003196
1280	COL2A1	Nystagmus	HP:0000639
1280	COL2A1	Skeletal muscle atrophy	HP:0003202
1280	COL2A1	Short distal phalanx of the 5th finger	HP:0004227
1280	COL2A1	Brachydactyly	HP:0001156
1280	COL2A1	Avascular necrosis	HP:0010885
1280	COL2A1	Hypoplastic pelvis	HP:0008839
1280	COL2A1	Postaxial hand polydactyly	HP:0001162
1280	COL2A1	Hip osteoarthritis	HP:0008843
1280	COL2A1	Arachnodactyly	HP:0001166
1280	COL2A1	Broad palm	HP:0001169
1280	COL2A1	Delayed gross motor development	HP:0002194
1280	COL2A1	Neonatal short-trunk short stature	HP:0008857
1280	COL2A1	Short distal phalanx of finger	HP:0009882
1280	COL2A1	Narrow mouth	HP:0000160
1280	COL2A1	Depressed nasal bridge	HP:0005280
1280	COL2A1	Glossoptosis	HP:0000162
1280	COL2A1	Abnormality of the dentition	HP:0000164
1280	COL2A1	Abnormality of the carpal bones	HP:0001191
1280	COL2A1	Disproportionate short-limb short stature	HP:0008873
1280	COL2A1	Stiff neck	HP:0025258
1280	COL2A1	Cleft palate	HP:0000175
1280	COL2A1	Short palm	HP:0004279
1280	COL2A1	Femoral hernia	HP:0100541
1280	COL2A1	Delayed skeletal maturation	HP:0002750
1280	COL2A1	Kyphoscoliosis	HP:0002751
1280	COL2A1	Recurrent fractures	HP:0002757
1280	COL2A1	Abdominal distention	HP:0003270
1280	COL2A1	Osteoarthritis	HP:0002758
1280	COL2A1	Hip contracture	HP:0003273
1280	COL2A1	Rhizomelia	HP:0008905
1280	COL2A1	Generalized joint laxity	HP:0002761
1280	COL2A1	Pierre-Robin sequence	HP:0000201
1280	COL2A1	Abnormality of the abdominal wall	HP:0004298
1280	COL2A1	Lower limb asymmetry	HP:0100559
1280	COL2A1	Trismus	HP:0000211
1280	COL2A1	Acetabular spurs	HP:0010454
1280	COL2A1	Neonatal short-limb short stature	HP:0008921
1280	COL2A1	Tracheal stenosis	HP:0002777
1280	COL2A1	Irregular femoral epiphysis	HP:0006361
1280	COL2A1	Tracheomalacia	HP:0002779
1280	COL2A1	Short tubular bones of the hand	HP:0001248
1280	COL2A1	Abnormality of the foot	HP:0001760
1280	COL2A1	Generalized osteoporosis	HP:0040160
1280	COL2A1	Intellectual disability	HP:0001249
1280	COL2A1	Short stature	HP:0004322
1280	COL2A1	Talipes equinovarus	HP:0001762
1280	COL2A1	Pes planus	HP:0001763
1280	COL2A1	Muscular hypotonia	HP:0001252
1280	COL2A1	Ovoid vertebral bodies	HP:0003300
1280	COL2A1	Irregular vertebral endplates	HP:0003301
1280	COL2A1	Type E brachydactyly	HP:0005863
1280	COL2A1	Abnormal vitreous humor morphology	HP:0004327
1280	COL2A1	Muscular hypotonia of the trunk	HP:0008936
1280	COL2A1	Hyperlordosis	HP:0003307
1280	COL2A1	Metaphyseal enchondromatosis	HP:0005868
1280	COL2A1	Short foot	HP:0001773
1280	COL2A1	Delayed speech and language development	HP:0000750
1280	COL2A1	Hypoplasia of the odontoid process	HP:0003311
1280	COL2A1	Stillbirth	HP:0003826
1280	COL2A1	Motor delay	HP:0001270
1280	COL2A1	Kyphosis	HP:0002808
1280	COL2A1	C1-C2 subluxation	HP:0003320
1280	COL2A1	Coxa vara	HP:0002812
1280	COL2A1	Hydrops fetalis	HP:0001789
1280	COL2A1	Abnormality of the sternum	HP:0000766
1280	COL2A1	Pectus excavatum	HP:0000767
1280	COL2A1	Macrocephaly	HP:0000256
1280	COL2A1	Pectus carinatum	HP:0000768
1280	COL2A1	Short ribs	HP:0000773
1280	COL2A1	Limitation of knee mobility	HP:0010501
1280	COL2A1	Anonychia	HP:0001798
1280	COL2A1	Narrow chest	HP:0000774
1280	COL2A1	Club-shaped proximal femur	HP:0006406
1280	COL2A1	Gait disturbance	HP:0001288
1280	COL2A1	Abnormal enchondral ossification	HP:0003336
1280	COL2A1	Generalized hypotonia	HP:0001290
1280	COL2A1	Hip dislocation	HP:0002827
1280	COL2A1	Arthralgia	HP:0002829
1280	COL2A1	Cervical myelopathy	HP:0002318
1280	COL2A1	Malar flattening	HP:0000272
1280	COL2A1	Enlarged thorax	HP:0100625
1280	COL2A1	Coarse facial features	HP:0000280
1280	COL2A1	Retinal dysplasia	HP:0007973
1280	COL2A1	Short toe	HP:0001831
1280	COL2A1	Genu valgum	HP:0002857
1280	COL2A1	Abnormality of epiphysis morphology	HP:0005930
1280	COL2A1	Flat capital femoral epiphysis	HP:0003370
1280	COL2A1	Narrow greater sacrosciatic notches	HP:0003375
1280	COL2A1	Hypoplastic iliac wing	HP:0002866
1280	COL2A1	Narrow iliac wings	HP:0002868
1280	COL2A1	Round face	HP:0000311
1280	COL2A1	Hypertelorism	HP:0000316
1280	COL2A1	Anisospondyly	HP:0002879
1280	COL2A1	Splayed epiphyses	HP:0200003
1280	COL2A1	Short metacarpal	HP:0010049
1280	COL2A1	Hypoplasia of the maxilla	HP:0000327
1280	COL2A1	Decreased cranial base ossification	HP:0005451
1280	COL2A1	Broad forehead	HP:0000337
1280	COL2A1	Cone-shaped epiphysis	HP:0010579
1280	COL2A1	Pugilistic facies	HP:0000339
1280	COL2A1	Long philtrum	HP:0000343
1280	COL2A1	Coronal cleft vertebrae	HP:0003417
1280	COL2A1	Schmorl's node	HP:0030041
1280	COL2A1	Micrognathia	HP:0000347
1280	COL2A1	Flexion contracture	HP:0001371
1280	COL2A1	Joint dislocation	HP:0001373
1280	COL2A1	Short distal phalanx of the 2nd finger	HP:0009566
1280	COL2A1	Vertebral segmentation defect	HP:0003422
1280	COL2A1	Limitation of joint mobility	HP:0001376
1280	COL2A1	Limited elbow extension	HP:0001377
1280	COL2A1	Attention deficit hyperactivity disorder	HP:0007018
1280	COL2A1	Skin erosion	HP:0200041
1280	COL2A1	Joint stiffness	HP:0001387
1280	COL2A1	Hearing impairment	HP:0000365
1280	COL2A1	Low-set ears	HP:0000369
1280	COL2A1	Hypoplastic scapulae	HP:0000882
1280	COL2A1	Thin ribs	HP:0000883
1280	COL2A1	Horizontal ribs	HP:0000888
1280	COL2A1	Lumbar hyperlordosis	HP:0002938
1280	COL2A1	Thoracic kyphosis	HP:0002942
1280	COL2A1	Abnormality of vertebral epiphysis morphology	HP:0100734
1280	COL2A1	Intervertebral space narrowing	HP:0002945
1280	COL2A1	Anterior rib cupping	HP:0000907
1280	COL2A1	Mild neurosensory hearing impairment	HP:0008587
1280	COL2A1	Severe limb shortening	HP:0200083
1280	COL2A1	Multifactorial inheritance	HP:0001426
1280	COL2A1	Recurrent otitis media	HP:0000403
1280	COL2A1	Conductive hearing impairment	HP:0000405
1280	COL2A1	Sensorineural hearing impairment	HP:0000407
1280	COL2A1	Genu varum	HP:0002970
1280	COL2A1	Platyspondyly	HP:0000926
1280	COL2A1	Metaphyseal dysplasia	HP:0100255
1280	COL2A1	Cartilage destruction	HP:0100773
1280	COL2A1	Micromelia	HP:0002983
1280	COL2A1	Exostoses	HP:0100777
1280	COL2A1	Disproportionate short stature	HP:0003498
1280	COL2A1	Mild short stature	HP:0003502
1280	COL2A1	Abnormality of fibula morphology	HP:0002991
1280	COL2A1	Abnormality of the metaphysis	HP:0000944
1280	COL2A1	Hypoplastic ilia	HP:0000946
1280	COL2A1	Dumbbell-shaped long bone	HP:0000947
1280	COL2A1	Limited elbow movement	HP:0002996
1280	COL2A1	Severe short stature	HP:0003510
1280	COL2A1	Pretibial blistering	HP:0012221
1280	COL2A1	Disproportionate short-trunk short stature	HP:0003521
1280	COL2A1	Rhegmatogenous retinal detachment	HP:0012230
1280	COL2A1	Flared metaphysis	HP:0003015
1280	COL2A1	Abnormality of ulnar metaphysis	HP:0004039
1280	COL2A1	Metaphyseal widening	HP:0003016
1280	COL2A1	Edema	HP:0000969
1280	COL2A1	Abnormality of the wrist	HP:0003019
1280	COL2A1	Absent styloid process of ulna	HP:0005068
1280	COL2A1	Metaphyseal cupping	HP:0003021
1280	COL2A1	Hypoplasia of the ulna	HP:0003022
1280	COL2A1	Delayed calcaneal ossification	HP:0008142
1280	COL2A1	Anteverted nares	HP:0000463
1280	COL2A1	Asteroid hyalosis	HP:0030672
1280	COL2A1	Metaphyseal irregularity	HP:0003025
1280	COL2A1	Short long bone	HP:0003026
1280	COL2A1	Cerebral calcification	HP:0002514
1280	COL2A1	Waddling gait	HP:0002515
1280	COL2A1	Prominent forehead	HP:0011220
1280	COL2A1	Severe platyspondyly	HP:0004565
1280	COL2A1	Short neck	HP:0000470
1280	COL2A1	Frontal bossing	HP:0002007
1280	COL2A1	Beaking of vertebral bodies	HP:0004568
1280	COL2A1	Abnormality of cardiovascular system morphology	HP:0030680
1280	COL2A1	Thickened nuchal skin fold	HP:0000474
1280	COL2A1	Cystic hygroma	HP:0000476
1280	COL2A1	Enlarged joints	HP:0003037
1280	COL2A1	Shortening of all middle phalanges of the fingers	HP:0006110
1280	COL2A1	Knee osteoarthritis	HP:0005086
1280	COL2A1	Arthropathy	HP:0003040
1280	COL2A1	Growth abnormality	HP:0001507
1280	COL2A1	Retinopathy	HP:0000488
1280	COL2A1	Disc-like vertebral bodies	HP:0004591
1280	COL2A1	Disproportionate tall stature	HP:0001519
1280	COL2A1	Glaucoma	HP:0000501
1280	COL2A1	Broad long bones	HP:0005622
1280	COL2A1	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
1280	COL2A1	Short metatarsal	HP:0010743
1280	COL2A1	Ptosis	HP:0000508
1280	COL2A1	Absent vertebral body mineralization	HP:0004605
1280	COL2A1	Flattened epiphysis	HP:0003071
148738	HJV	Hepatomegaly	HP:0002240
148738	HJV	Young adult onset	HP:0011462
148738	HJV	Autosomal recessive inheritance	HP:0000007
148738	HJV	Hypogonadism	HP:0000135
148738	HJV	Amenorrhea	HP:0000141
148738	HJV	Splenomegaly	HP:0001744
148738	HJV	Generalized hyperpigmentation	HP:0007440
148738	HJV	Increased serum ferritin	HP:0003281
148738	HJV	Infertility	HP:0000789
148738	HJV	Arthritis	HP:0001369
148738	HJV	Arrhythmia	HP:0011675
148738	HJV	Azoospermia	HP:0000027
148738	HJV	Elevated hepatic transaminase	HP:0002910
148738	HJV	Arthropathy	HP:0003040
148738	HJV	Impotence	HP:0000802
148738	HJV	Congestive heart failure	HP:0001635
148738	HJV	Lethargy	HP:0001254
148738	HJV	Cardiomyopathy	HP:0001638
148738	HJV	Osteoporosis	HP:0000939
148738	HJV	Dilated cardiomyopathy	HP:0001644
148738	HJV	Hypogonadotrophic hypogonadism	HP:0000044
148738	HJV	Muscle weakness	HP:0001324
148738	HJV	Elevated transferrin saturation	HP:0012463
148738	HJV	Cirrhosis	HP:0001394
148738	HJV	Diabetes mellitus	HP:0000819
148738	HJV	Congenital hepatic fibrosis	HP:0002612
148738	HJV	Hyperpigmentation of the skin	HP:0000953
148738	HJV	Increased serum iron	HP:0003452
148738	HJV	Abnormality of endocrine pancreas physiology	HP:0012093
1281	COL3A1	Umbilical hernia	HP:0001537
1281	COL3A1	Encephalomalacia	HP:0040197
1281	COL3A1	Fragile skin	HP:0001030
1281	COL3A1	Autosomal dominant inheritance	HP:0000006
1281	COL3A1	Proptosis	HP:0000520
1281	COL3A1	Bladder diverticulum	HP:0000015
1281	COL3A1	Vertigo	HP:0002321
1281	COL3A1	Reduced consciousness/confusion	HP:0004372
1281	COL3A1	Internal hemorrhage	HP:0011029
1281	COL3A1	Transient ischemic attack	HP:0002326
1281	COL3A1	Inguinal hernia	HP:0000023
1281	COL3A1	Cryptorchidism	HP:0000028
1281	COL3A1	Migraine	HP:0002076
1281	COL3A1	Epicanthus	HP:0000286
1281	COL3A1	Cystocele	HP:0100645
1281	COL3A1	Sleep apnea	HP:0010535
1281	COL3A1	Osteolytic defects of the phalanges of the hand	HP:0009771
1281	COL3A1	Respiratory insufficiency	HP:0002093
1281	COL3A1	Redundant skin	HP:0001582
1281	COL3A1	Hypospadias	HP:0000047
1281	COL3A1	Cigarette-paper scars	HP:0001073
1281	COL3A1	Foot acroosteolysis	HP:0001842
1281	COL3A1	Keratoconus	HP:0000563
1281	COL3A1	Hypertension	HP:0000822
1281	COL3A1	Aortic root aneurysm	HP:0002616
1281	COL3A1	Hemoptysis	HP:0002105
1281	COL3A1	Cervical insufficiency	HP:0030009
1281	COL3A1	Hypermobility of distal interphalangeal joints	HP:0006201
1281	COL3A1	Abnormality of brainstem morphology	HP:0002363
1281	COL3A1	Varicose veins	HP:0002619
1281	COL3A1	Pneumothorax	HP:0002107
1281	COL3A1	Joint hyperflexibility	HP:0005692
1281	COL3A1	Hypertelorism	HP:0000316
1281	COL3A1	Alopecia	HP:0001596
1281	COL3A1	Spontaneous pneumothorax	HP:0002108
1281	COL3A1	Atherosclerosis	HP:0002621
1281	COL3A1	Pulmonary artery aneurysm	HP:0004937
1281	COL3A1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
1281	COL3A1	Flat face	HP:0012368
1281	COL3A1	Blue sclerae	HP:0000592
1281	COL3A1	Premature loss of teeth	HP:0006480
1281	COL3A1	Dilatation of the cerebral artery	HP:0004944
1281	COL3A1	Arteriovenous fistulas of celiac and mesenteric vessels	HP:0002642
1281	COL3A1	Hypokalemia	HP:0002900
1281	COL3A1	Premature birth	HP:0001622
1281	COL3A1	Aortic dissection	HP:0002647
1281	COL3A1	Subarachnoid hemorrhage	HP:0002138
1281	COL3A1	Scoliosis	HP:0002650
1281	COL3A1	Micrognathia	HP:0000347
1281	COL3A1	Skeletal dysplasia	HP:0002652
1281	COL3A1	Congenital hip dislocation	HP:0001374
1281	COL3A1	Mitral valve prolapse	HP:0001634
1281	COL3A1	Visual field defect	HP:0001123
1281	COL3A1	Abnormal pupil morphology	HP:0000615
1281	COL3A1	Skin ulcer	HP:0200042
1281	COL3A1	Ascending tubular aorta aneurysm	HP:0004970
1281	COL3A1	Uterine rupture	HP:0100718
1281	COL3A1	Small hand	HP:0200055
1281	COL3A1	Cerebral berry aneurysm	HP:0007029
1281	COL3A1	Gastrointestinal infarctions	HP:0005244
1281	COL3A1	Absent earlobe	HP:0000387
1281	COL3A1	Uterine prolapse	HP:0000139
1281	COL3A1	Sprengel anomaly	HP:0000912
1281	COL3A1	High, narrow palate	HP:0002705
1281	COL3A1	Premature delivery because of cervical insufficiency or membrane fragility	HP:0005267
1281	COL3A1	Dermal translucency	HP:0010648
1281	COL3A1	Protruding ear	HP:0000411
1281	COL3A1	Carious teeth	HP:0000670
1281	COL3A1	Narrow mouth	HP:0000160
1281	COL3A1	Fine hair	HP:0002213
1281	COL3A1	Arterial dissection	HP:0005294
1281	COL3A1	Peripheral arteriovenous fistula	HP:0100784
1281	COL3A1	Aplasia/Hypoplasia of the earlobes	HP:0009906
1281	COL3A1	Premature loss of primary teeth	HP:0006323
1281	COL3A1	Microdontia	HP:0000691
1281	COL3A1	Carotid cavernous fistula	HP:0031157
1281	COL3A1	Convex nasal ridge	HP:0000444
1281	COL3A1	Macule	HP:0012733
1281	COL3A1	Narrow nasal bridge	HP:0000446
1281	COL3A1	Cognitive impairment	HP:0100543
1281	COL3A1	Abnormal oral frenulum morphology	HP:0000190
1281	COL3A1	Periodontitis	HP:0000704
1281	COL3A1	Abnormal intestine morphology	HP:0002242
1281	COL3A1	Thin skin	HP:0000963
1281	COL3A1	Osteoarthritis	HP:0002758
1281	COL3A1	Subcutaneous nodule	HP:0001482
1281	COL3A1	Renovascular hypertension	HP:0100817
1281	COL3A1	Bruising susceptibility	HP:0000978
1281	COL3A1	Gingival overgrowth	HP:0000212
1281	COL3A1	Oculomotor nerve palsy	HP:0012246
1281	COL3A1	Hypoplastic lacrimal duct	HP:0007900
1281	COL3A1	Abnormality of hair texture	HP:0010719
1281	COL3A1	Excessive wrinkled skin	HP:0007392
1281	COL3A1	Molluscoid pseudotumors	HP:0000993
1281	COL3A1	Intellectual disability	HP:0001249
1281	COL3A1	Seizures	HP:0001250
1281	COL3A1	Short stature	HP:0004322
1281	COL3A1	Talipes equinovarus	HP:0001762
1281	COL3A1	Melanocytic nevus	HP:0000995
1281	COL3A1	Lipoatrophy	HP:0100578
1281	COL3A1	Abnormal circle of Willis morphology	HP:0012518
1281	COL3A1	Gingivitis	HP:0000230
1281	COL3A1	Telangiectasia of the skin	HP:0100585
1281	COL3A1	Irregular hyperpigmentation	HP:0007400
1281	COL3A1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
1281	COL3A1	Thin vermilion border	HP:0000233
1281	COL3A1	Deeply set eye	HP:0000490
1281	COL3A1	Osteolysis	HP:0002797
1281	COL3A1	Short foot	HP:0001773
1281	COL3A1	Global developmental delay	HP:0001263
1281	COL3A1	Abnormal eyelash morphology	HP:0000499
1281	COL3A1	Hemiparesis	HP:0001269
1281	COL3A1	Glaucoma	HP:0000501
1281	COL3A1	Alopecia of scalp	HP:0002293
1281	COL3A1	Telecanthus	HP:0000506
1281	COL3A1	Ptosis	HP:0000508
1281	COL3A1	Pectus excavatum	HP:0000767
1282	COL4A1	Macrocephaly	HP:0000256
1282	COL4A1	Skeletal muscle atrophy	HP:0003202
1282	COL4A1	Areflexia	HP:0001284
1282	COL4A1	Autosomal dominant inheritance	HP:0000006
1282	COL4A1	Amblyopia	HP:0000646
1282	COL4A1	Cataract	HP:0000518
1282	COL4A1	Developmental cataract	HP:0000519
1282	COL4A1	Optic atrophy	HP:0000648
1282	COL4A1	Schizencephaly	HP:0010636
1282	COL4A1	Metatarsus valgus	HP:0010508
1282	COL4A1	Anophthalmia	HP:0000528
1282	COL4A1	Stroke	HP:0001297
1282	COL4A1	Abnormal circulating creatine kinase concentration	HP:0040081
1282	COL4A1	Limb dystonia	HP:0002451
1282	COL4A1	Corneal opacity	HP:0007957
1282	COL4A1	Hematuria	HP:0000790
1282	COL4A1	Pachygyria	HP:0001302
1282	COL4A1	Dandy-Walker malformation	HP:0001305
1282	COL4A1	Protruding ear	HP:0000411
1282	COL4A1	Hypermetropia	HP:0000540
1282	COL4A1	Cryptorchidism	HP:0000028
1282	COL4A1	Retinal detachment	HP:0000541
1282	COL4A1	Migraine with aura	HP:0002077
1282	COL4A1	Babinski sign	HP:0003487
1282	COL4A1	Raynaud phenomenon	HP:0030880
1282	COL4A1	Hypoplasia of penis	HP:0008736
1282	COL4A1	Myopia	HP:0000545
1282	COL4A1	Elevated serum creatine kinase	HP:0003236
1282	COL4A1	Retinal dysplasia	HP:0007973
1282	COL4A1	Retinal vascular tortuosity	HP:0012841
1282	COL4A1	Facial paralysis	HP:0007209
1282	COL4A1	Cerebellar hypoplasia	HP:0001321
1282	COL4A1	Retinal dystrophy	HP:0000556
1282	COL4A1	Muscle weakness	HP:0001324
1282	COL4A1	Focal cortical dysplasia	HP:0032046
1282	COL4A1	Leukoencephalopathy	HP:0002352
1282	COL4A1	Specific learning disability	HP:0001328
1282	COL4A1	Submucous cleft hard palate	HP:0000176
1282	COL4A1	Absent septum pellucidum	HP:0001331
1282	COL4A1	Chorioretinal dysplasia	HP:0007731
1282	COL4A1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
1282	COL4A1	Microphthalmia	HP:0000568
1282	COL4A1	Multiple renal cysts	HP:0005562
1282	COL4A1	Macrogyria	HP:0007227
1282	COL4A1	Visual loss	HP:0000572
1282	COL4A1	Retinal hemorrhage	HP:0000573
1282	COL4A1	Ectopia pupillae	HP:0009918
1282	COL4A1	Scotoma	HP:0000575
1282	COL4A1	Exotropia	HP:0000577
1282	COL4A1	Bifid uvula	HP:0000193
1282	COL4A1	Muscle spasm	HP:0003394
1282	COL4A1	Cerebral cortical atrophy	HP:0002120
1282	COL4A1	Posterior leukoencephalopathy	HP:0006859
1282	COL4A1	Polymicrogyria	HP:0002126
1282	COL4A1	Dilatation of the cerebral artery	HP:0004944
1282	COL4A1	Renal insufficiency	HP:0000083
1282	COL4A1	Porencephalic cyst	HP:0002132
1282	COL4A1	Hemolytic anemia	HP:0001878
1282	COL4A1	Hypopigmentation of the fundus	HP:0007894
1282	COL4A1	Ischemic stroke	HP:0002140
1282	COL4A1	Tetraparesis	HP:0002273
1282	COL4A1	Intellectual disability	HP:0001249
1282	COL4A1	Seizures	HP:0001250
1282	COL4A1	Microcornea	HP:0000482
1282	COL4A1	Visual field defect	HP:0001123
1282	COL4A1	Astigmatism	HP:0000483
1282	COL4A1	Iris coloboma	HP:0000612
1282	COL4A1	Muscular hypotonia	HP:0001252
1282	COL4A1	Strabismus	HP:0000486
1282	COL4A1	Posteriorly rotated ears	HP:0000358
1282	COL4A1	Intellectual disability, mild	HP:0001256
1282	COL4A1	Corneal neovascularization	HP:0011496
1282	COL4A1	Perivascular spaces	HP:0012520
1282	COL4A1	Muscular dystrophy	HP:0003560
1282	COL4A1	Spasticity	HP:0001257
1282	COL4A1	Renal cyst	HP:0000107
1282	COL4A1	Polycoria	HP:0011500
1282	COL4A1	Hydrocephalus	HP:0000238
1282	COL4A1	Blurred vision	HP:0000622
1282	COL4A1	Global developmental delay	HP:0001263
1282	COL4A1	Retinal arteriolar tortuosity	HP:0001136
1282	COL4A1	Nephropathy	HP:0000112
1282	COL4A1	Peripapillary atrophy	HP:0500087
1282	COL4A1	Abnormal aldolase level	HP:0012400
1282	COL4A1	Abnormal lactate dehydrogenase activity	HP:0045040
1282	COL4A1	Low-set ears	HP:0000369
1282	COL4A1	Hyporeflexia	HP:0001265
1282	COL4A1	Variable expressivity	HP:0003828
1282	COL4A1	Glaucoma	HP:0000501
1282	COL4A1	Hemiparesis	HP:0001269
1282	COL4A1	Cerebellar atrophy	HP:0001272
1282	COL4A1	Agenesis of corpus callosum	HP:0001274
1282	COL4A1	Supraventricular arrhythmia	HP:0005115
1282	COL4A1	Hypoplasia of the iris	HP:0007676
1282	COL4A1	Microcephaly	HP:0000252
1282	COL4A1	Hemiplegia	HP:0002301
9474	ATG5	Nonprogressive	HP:0003680
9474	ATG5	Delayed ability to walk	HP:0031936
9474	ATG5	Autosomal recessive inheritance	HP:0000007
9474	ATG5	Cerebellar hypoplasia	HP:0001321
9474	ATG5	Cognitive impairment	HP:0100543
9474	ATG5	Truncal ataxia	HP:0002078
9474	ATG5	Dysmetria	HP:0001310
9474	ATG5	Global developmental delay	HP:0001263
1284	COL4A2	Seizures	HP:0001250
1284	COL4A2	Variable expressivity	HP:0003828
1284	COL4A2	Porencephalic cyst	HP:0002132
1284	COL4A2	Incomplete penetrance	HP:0003829
1284	COL4A2	Autosomal dominant inheritance	HP:0000006
1284	COL4A2	Ventriculomegaly	HP:0002119
1284	COL4A2	Spasticity	HP:0001257
1284	COL4A2	Intracranial hemorrhage	HP:0002170
1284	COL4A2	Hemiplegia	HP:0002301
1284	COL4A2	Global developmental delay	HP:0001263
1285	COL4A3	Autosomal dominant inheritance	HP:0000006
1285	COL4A3	Cataract	HP:0000518
1285	COL4A3	Autosomal recessive inheritance	HP:0000007
1285	COL4A3	Heterogeneous	HP:0001425
1285	COL4A3	Diffuse glomerular basement membrane lamellation	HP:0030034
1285	COL4A3	Renal insufficiency	HP:0000083
1285	COL4A3	Hematuria	HP:0000790
1285	COL4A3	Sensorineural hearing impairment	HP:0000407
1285	COL4A3	Corneal erosion	HP:0200020
1285	COL4A3	Progressive	HP:0003676
1285	COL4A3	Proteinuria	HP:0000093
1285	COL4A3	Nonprogressive	HP:0003680
1285	COL4A3	Myopia	HP:0000545
1285	COL4A3	Thin glomerular basement membrane	HP:0012577
1285	COL4A3	Glomerulonephritis	HP:0000099
1285	COL4A3	Nephrotic syndrome	HP:0000100
1285	COL4A3	Hypophosphatemia	HP:0002148
1285	COL4A3	Azotemia	HP:0002157
1285	COL4A3	Anterior lenticonus	HP:0011501
1285	COL4A3	Hearing impairment	HP:0000365
1285	COL4A3	Anterior polar cataract	HP:0001134
1285	COL4A3	Thickening of the glomerular basement membrane	HP:0004722
1285	COL4A3	Lenticonus	HP:0001142
1285	COL4A3	Hypertension	HP:0000822
1285	COL4A3	Nephrocalcinosis	HP:0000121
1285	COL4A3	Nephritis	HP:0000123
1285	COL4A3	Stage 5 chronic kidney disease	HP:0003774
25861	WHRN	Abnormal electroretinogram	HP:0000512
25861	WHRN	Aplasia/Hypoplasia of the cerebellum	HP:0007360
25861	WHRN	Abnormality of dental color	HP:0011073
25861	WHRN	Cataract	HP:0000518
25861	WHRN	Autosomal recessive inheritance	HP:0000007
25861	WHRN	Cerebral cortical atrophy	HP:0002120
25861	WHRN	Depressivity	HP:0000716
25861	WHRN	Schizophrenia	HP:0100753
25861	WHRN	Nyctalopia	HP:0000662
25861	WHRN	Sensorineural hearing impairment	HP:0000407
25861	WHRN	Hemianopia	HP:0012377
25861	WHRN	Carious teeth	HP:0000670
25861	WHRN	Myopia	HP:0000545
25861	WHRN	Hallucinations	HP:0000738
25861	WHRN	Anxiety	HP:0000739
25861	WHRN	Ataxia	HP:0001251
25861	WHRN	Blindness	HP:0000618
25861	WHRN	Abnormality of dental enamel	HP:0000682
25861	WHRN	Hearing impairment	HP:0000365
25861	WHRN	Iris hypopigmentation	HP:0007730
25861	WHRN	Microdontia	HP:0000691
25861	WHRN	Visual loss	HP:0000572
25861	WHRN	Subcortical cerebral atrophy	HP:0012157
25861	WHRN	Rod-cone dystrophy	HP:0000510
25861	WHRN	Nystagmus	HP:0000639
25861	WHRN	Scotoma	HP:0000575
1286	COL4A4	Nonprogressive	HP:0003680
1286	COL4A4	Myopia	HP:0000545
1286	COL4A4	Thin glomerular basement membrane	HP:0012577
1286	COL4A4	Nephrotic syndrome	HP:0000100
1286	COL4A4	Cataract	HP:0000518
1286	COL4A4	Autosomal dominant inheritance	HP:0000006
1286	COL4A4	Autosomal recessive inheritance	HP:0000007
1286	COL4A4	Anterior lenticonus	HP:0011501
1286	COL4A4	Hearing impairment	HP:0000365
1286	COL4A4	Heterogeneous	HP:0001425
1286	COL4A4	Diffuse glomerular basement membrane lamellation	HP:0030034
1286	COL4A4	Thickening of the glomerular basement membrane	HP:0004722
1286	COL4A4	Renal insufficiency	HP:0000083
1286	COL4A4	Hematuria	HP:0000790
1286	COL4A4	Hypertension	HP:0000822
1286	COL4A4	Corneal erosion	HP:0200020
1286	COL4A4	Nephritis	HP:0000123
1286	COL4A4	Progressive	HP:0003676
1286	COL4A4	Proteinuria	HP:0000093
1286	COL4A4	Stage 5 chronic kidney disease	HP:0003774
1287	COL4A5	Ichthyosis	HP:0008064
1287	COL4A5	Myopia	HP:0000545
1287	COL4A5	Nephrotic syndrome	HP:0000100
1287	COL4A5	Diffuse leiomyomatosis	HP:0006756
1287	COL4A5	Developmental cataract	HP:0000519
1287	COL4A5	X-linked inheritance	HP:0001417
1287	COL4A5	Anterior lenticonus	HP:0011501
1287	COL4A5	X-linked dominant inheritance	HP:0001423
1287	COL4A5	Thrombocytopenia	HP:0001873
1287	COL4A5	Heterogeneous	HP:0001425
1287	COL4A5	Diffuse glomerular basement membrane lamellation	HP:0030034
1287	COL4A5	Thickening of the glomerular basement membrane	HP:0004722
1287	COL4A5	Renal insufficiency	HP:0000083
1287	COL4A5	Lenticonus	HP:0001142
1287	COL4A5	Hypertension	HP:0000822
1287	COL4A5	Sensorineural hearing impairment	HP:0000407
1287	COL4A5	Corneal erosion	HP:0200020
1287	COL4A5	Nephritis	HP:0000123
1287	COL4A5	Microscopic hematuria	HP:0002907
1287	COL4A5	Progressive	HP:0003676
1287	COL4A5	Proteinuria	HP:0000093
1287	COL4A5	Hypoparathyroidism	HP:0000829
1287	COL4A5	Stage 5 chronic kidney disease	HP:0003774
1288	COL4A6	Cochlear malformation	HP:0008554
1288	COL4A6	X-linked recessive inheritance	HP:0001419
1288	COL4A6	Hearing impairment	HP:0000365
1289	COL5A1	Pectus carinatum	HP:0000768
1289	COL5A1	Umbilical hernia	HP:0001537
1289	COL5A1	Urticaria	HP:0001025
1289	COL5A1	Hyperextensibility of the knee	HP:0010500
1289	COL5A1	Fragile skin	HP:0001030
1289	COL5A1	Autosomal dominant inheritance	HP:0000006
1289	COL5A1	Proptosis	HP:0000520
1289	COL5A1	Bladder diverticulum	HP:0000015
1289	COL5A1	Vertigo	HP:0002321
1289	COL5A1	Narrow face	HP:0000275
1289	COL5A1	Reduced consciousness/confusion	HP:0004372
1289	COL5A1	Internal hemorrhage	HP:0011029
1289	COL5A1	Transient ischemic attack	HP:0002326
1289	COL5A1	Inguinal hernia	HP:0000023
1289	COL5A1	Migraine	HP:0002076
1289	COL5A1	Cryptorchidism	HP:0000028
1289	COL5A1	Retinal detachment	HP:0000541
1289	COL5A1	Epicanthus	HP:0000286
1289	COL5A1	Erythema	HP:0010783
1289	COL5A1	Myopia	HP:0000545
1289	COL5A1	Poor wound healing	HP:0001058
1289	COL5A1	Cystocele	HP:0100645
1289	COL5A1	Acrocyanosis	HP:0001063
1289	COL5A1	Sleep apnea	HP:0010535
1289	COL5A1	Striae distensae	HP:0001065
1289	COL5A1	Muscle weakness	HP:0001324
1289	COL5A1	Respiratory insufficiency	HP:0002093
1289	COL5A1	Redundant skin	HP:0001582
1289	COL5A1	Hypospadias	HP:0000047
1289	COL5A1	Emphysema	HP:0002097
1289	COL5A1	Cigarette-paper scars	HP:0001073
1289	COL5A1	Asthma	HP:0002099
1289	COL5A1	Keratoconus	HP:0000563
1289	COL5A1	Hypertension	HP:0000822
1289	COL5A1	Hypotension	HP:0002615
1289	COL5A1	Open bite	HP:0010807
1289	COL5A1	Aortic root aneurysm	HP:0002616
1289	COL5A1	Hemoptysis	HP:0002105
1289	COL5A1	Pneumothorax	HP:0002107
1289	COL5A1	Ectopia lentis	HP:0001083
1289	COL5A1	Varicose veins	HP:0002619
1289	COL5A1	Joint hyperflexibility	HP:0005692
1289	COL5A1	Hypertelorism	HP:0000316
1289	COL5A1	Alopecia	HP:0001596
1289	COL5A1	Triangular face	HP:0000325
1289	COL5A1	Pulmonary artery aneurysm	HP:0004937
1289	COL5A1	Reduced number of teeth	HP:0009804
1289	COL5A1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
1289	COL5A1	Blue sclerae	HP:0000592
1289	COL5A1	Flat face	HP:0012368
1289	COL5A1	Arteriovenous fistulas of celiac and mesenteric vessels	HP:0002642
1289	COL5A1	Hypokalemia	HP:0002900
1289	COL5A1	Premature birth	HP:0001622
1289	COL5A1	Aortic dissection	HP:0002647
1289	COL5A1	Fatigue	HP:0012378
1289	COL5A1	Scoliosis	HP:0002650
1289	COL5A1	Abnormal renal tubule morphology	HP:0000091
1289	COL5A1	Joint dislocation	HP:0001373
1289	COL5A1	Congenital hip dislocation	HP:0001374
1289	COL5A1	Atrial septal defect	HP:0001631
1289	COL5A1	Keratoglobus	HP:0001119
1289	COL5A1	Papule	HP:0200034
1289	COL5A1	Mitral valve prolapse	HP:0001634
1289	COL5A1	Bowel diverticulosis	HP:0005222
1289	COL5A1	Abnormal pupil morphology	HP:0000615
1289	COL5A1	Ascending tubular aorta aneurysm	HP:0004970
1289	COL5A1	Corneal dystrophy	HP:0001131
1289	COL5A1	Uterine rupture	HP:0100718
1289	COL5A1	Hypoplasia of the ear cartilage	HP:0100720
1289	COL5A1	Malar prominence	HP:0010620
1289	COL5A1	Gastrointestinal infarctions	HP:0005244
1289	COL5A1	Lop ear	HP:0000394
1289	COL5A1	Uterine prolapse	HP:0000139
1289	COL5A1	Arachnodactyly	HP:0001166
1289	COL5A1	Sprengel anomaly	HP:0000912
1289	COL5A1	High, narrow palate	HP:0002705
1289	COL5A1	Dermal translucency	HP:0010648
1289	COL5A1	Protruding ear	HP:0000411
1289	COL5A1	Abnormality of the tongue	HP:0000157
1289	COL5A1	Carious teeth	HP:0000670
1289	COL5A1	Narrow mouth	HP:0000160
1289	COL5A1	Hyperextensibility of the finger joints	HP:0001187
1289	COL5A1	Tricuspid valve prolapse	HP:0001704
1289	COL5A1	Abnormality of the gingiva	HP:0000168
1289	COL5A1	Irregularly spaced teeth	HP:0006316
1289	COL5A1	Venous insufficiency	HP:0005293
1289	COL5A1	Arterial dissection	HP:0005294
1289	COL5A1	Wide nasal bridge	HP:0000431
1289	COL5A1	Dental malocclusion	HP:0000689
1289	COL5A1	Peripheral arteriovenous fistula	HP:0100784
1289	COL5A1	Aplasia/Hypoplasia of the earlobes	HP:0009906
1289	COL5A1	Microdontia	HP:0000691
1289	COL5A1	Premature loss of primary teeth	HP:0006323
1289	COL5A1	Subcutaneous spheroids	HP:0025014
1289	COL5A1	Macule	HP:0012733
1289	COL5A1	Cognitive impairment	HP:0100543
1289	COL5A1	Narrow nasal bridge	HP:0000446
1289	COL5A1	Abnormal oral frenulum morphology	HP:0000190
1289	COL5A1	Periodontitis	HP:0000704
1289	COL5A1	Abnormal intestine morphology	HP:0002242
1289	COL5A1	Thin skin	HP:0000963
1289	COL5A1	Eczema	HP:0000964
1289	COL5A1	Osteoarthritis	HP:0002758
1289	COL5A1	Petechiae	HP:0000967
1289	COL5A1	Subcutaneous nodule	HP:0001482
1289	COL5A1	Hyperextensible skin	HP:0000974
1289	COL5A1	Renovascular hypertension	HP:0100817
1289	COL5A1	Soft skin	HP:0000977
1289	COL5A1	Bruising susceptibility	HP:0000978
1289	COL5A1	Long thorax	HP:0100818
1289	COL5A1	Gingival overgrowth	HP:0000212
1289	COL5A1	Genital hernia	HP:0100823
1289	COL5A1	Narrow maxilla	HP:0002010
1289	COL5A1	Atypical scarring of skin	HP:0000987
1289	COL5A1	Hypoplastic lacrimal duct	HP:0007900
1289	COL5A1	Abnormality of hair texture	HP:0010719
1289	COL5A1	Excessive wrinkled skin	HP:0007392
1289	COL5A1	Molluscoid pseudotumors	HP:0000993
1289	COL5A1	Short stature	HP:0004322
1289	COL5A1	Microcornea	HP:0000482
1289	COL5A1	Spina bifida occulta	HP:0003298
1289	COL5A1	Talipes equinovarus	HP:0001762
1289	COL5A1	Pes planus	HP:0001763
1289	COL5A1	Melanocytic nevus	HP:0000995
1289	COL5A1	Muscular hypotonia	HP:0001252
1289	COL5A1	Cachexia	HP:0004326
1289	COL5A1	Gingivitis	HP:0000230
1289	COL5A1	Telangiectasia of the skin	HP:0100585
1289	COL5A1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
1289	COL5A1	Thin vermilion border	HP:0000233
1289	COL5A1	Deeply set eye	HP:0000490
1289	COL5A1	Hyperlordosis	HP:0003307
1289	COL5A1	Premature birth following premature rupture of fetal membranes	HP:0005100
1289	COL5A1	Osteolysis	HP:0002797
1289	COL5A1	Global developmental delay	HP:0001263
1289	COL5A1	Abnormal nasal morphology	HP:0005105
1289	COL5A1	Infantile muscular hypotonia	HP:0008947
1289	COL5A1	Abnormal eyelash morphology	HP:0000499
1289	COL5A1	Hiatus hernia	HP:0002036
1289	COL5A1	Glaucoma	HP:0000501
1289	COL5A1	Hyperextensibility at elbow	HP:0010485
1289	COL5A1	Kyphosis	HP:0002808
1289	COL5A1	Shagreen patch	HP:0009721
1289	COL5A1	Telecanthus	HP:0000506
1289	COL5A1	Ptosis	HP:0000508
1289	COL5A1	Myalgia	HP:0003326
1289	COL5A1	Pectus excavatum	HP:0000767
1290	COL5A2	Pectus carinatum	HP:0000768
1290	COL5A2	Umbilical hernia	HP:0001537
1290	COL5A2	Urticaria	HP:0001025
1290	COL5A2	Arachnodactyly	HP:0001166
1290	COL5A2	High, narrow palate	HP:0002705
1290	COL5A2	Narrow face	HP:0000275
1290	COL5A2	Reduced consciousness/confusion	HP:0004372
1290	COL5A2	Inguinal hernia	HP:0000023
1290	COL5A2	Migraine	HP:0002076
1290	COL5A2	Retinal detachment	HP:0000541
1290	COL5A2	Abnormality of the tongue	HP:0000157
1290	COL5A2	Epicanthus	HP:0000286
1290	COL5A2	Erythema	HP:0010783
1290	COL5A2	Myopia	HP:0000545
1290	COL5A2	Acrocyanosis	HP:0001063
1290	COL5A2	Tricuspid valve prolapse	HP:0001704
1290	COL5A2	Abnormality of the gingiva	HP:0000168
1290	COL5A2	Striae distensae	HP:0001065
1290	COL5A2	Muscle weakness	HP:0001324
1290	COL5A2	Venous insufficiency	HP:0005293
1290	COL5A2	Arterial dissection	HP:0005294
1290	COL5A2	Wide nasal bridge	HP:0000431
1290	COL5A2	Dental malocclusion	HP:0000689
1290	COL5A2	Emphysema	HP:0002097
1290	COL5A2	Asthma	HP:0002099
1290	COL5A2	Microdontia	HP:0000691
1290	COL5A2	Hypertension	HP:0000822
1290	COL5A2	Hypotension	HP:0002615
1290	COL5A2	Open bite	HP:0010807
1290	COL5A2	Pneumothorax	HP:0002107
1290	COL5A2	Ectopia lentis	HP:0001083
1290	COL5A2	Joint hyperflexibility	HP:0005692
1290	COL5A2	Cognitive impairment	HP:0100543
1290	COL5A2	Thin skin	HP:0000963
1290	COL5A2	Eczema	HP:0000964
1290	COL5A2	Triangular face	HP:0000325
1290	COL5A2	Osteoarthritis	HP:0002758
1290	COL5A2	Petechiae	HP:0000967
1290	COL5A2	Reduced number of teeth	HP:0009804
1290	COL5A2	Hyperextensible skin	HP:0000974
1290	COL5A2	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
1290	COL5A2	Blue sclerae	HP:0000592
1290	COL5A2	Bruising susceptibility	HP:0000978
1290	COL5A2	Long thorax	HP:0100818
1290	COL5A2	Premature birth	HP:0001622
1290	COL5A2	Genital hernia	HP:0100823
1290	COL5A2	Fatigue	HP:0012378
1290	COL5A2	Scoliosis	HP:0002650
1290	COL5A2	Atypical scarring of skin	HP:0000987
1290	COL5A2	Abnormal renal tubule morphology	HP:0000091
1290	COL5A2	Joint dislocation	HP:0001373
1290	COL5A2	Atrial septal defect	HP:0001631
1290	COL5A2	Keratoglobus	HP:0001119
1290	COL5A2	Papule	HP:0200034
1290	COL5A2	Short stature	HP:0004322
1290	COL5A2	Mitral valve prolapse	HP:0001634
1290	COL5A2	Microcornea	HP:0000482
1290	COL5A2	Spina bifida occulta	HP:0003298
1290	COL5A2	Pes planus	HP:0001763
1290	COL5A2	Muscular hypotonia	HP:0001252
1290	COL5A2	Cachexia	HP:0004326
1290	COL5A2	Ascending tubular aorta aneurysm	HP:0004970
1290	COL5A2	Hyperlordosis	HP:0003307
1290	COL5A2	Corneal dystrophy	HP:0001131
1290	COL5A2	Hypoplasia of the ear cartilage	HP:0100720
1290	COL5A2	Abnormal nasal morphology	HP:0005105
1290	COL5A2	Hiatus hernia	HP:0002036
1290	COL5A2	Glaucoma	HP:0000501
1290	COL5A2	Kyphosis	HP:0002808
1290	COL5A2	Shagreen patch	HP:0009721
1290	COL5A2	Malar prominence	HP:0010620
1290	COL5A2	Myalgia	HP:0003326
1291	COL6A1	Muscle fiber necrosis	HP:0003713
1291	COL6A1	EMG abnormality	HP:0003457
1291	COL6A1	EMG: myopathic abnormalities	HP:0003458
1291	COL6A1	Skeletal muscle atrophy	HP:0003202
1291	COL6A1	Facial palsy	HP:0010628
1291	COL6A1	Increased laxity of fingers	HP:0006149
1291	COL6A1	Autosomal dominant inheritance	HP:0000006
1291	COL6A1	Autosomal recessive inheritance	HP:0000007
1291	COL6A1	Infantile onset	HP:0003593
1291	COL6A1	Generalized hypotonia	HP:0001290
1291	COL6A1	Hip dislocation	HP:0002827
1291	COL6A1	Camptodactyly of finger	HP:0100490
1291	COL6A1	Multiple joint contractures	HP:0002828
1291	COL6A1	Long toe	HP:0010511
1291	COL6A1	Pes valgus	HP:0008081
1291	COL6A1	Decreased fetal movement	HP:0001558
1291	COL6A1	Diaphragmatic weakness	HP:0009113
1291	COL6A1	Protruding ear	HP:0000411
1291	COL6A1	Distal muscle weakness	HP:0002460
1291	COL6A1	Adducted thumb	HP:0001181
1291	COL6A1	Congenital muscular dystrophy	HP:0003741
1291	COL6A1	Elevated serum creatine kinase	HP:0003236
1291	COL6A1	Neonatal hypotonia	HP:0001319
1291	COL6A1	Feeding difficulties in infancy	HP:0008872
1291	COL6A1	Elbow flexion contracture	HP:0002987
1291	COL6A1	Abnormal palate morphology	HP:0000174
1291	COL6A1	Esotropia	HP:0000565
1291	COL6A1	Frequent falls	HP:0002359
1291	COL6A1	Round face	HP:0000311
1291	COL6A1	Respiratory insufficiency due to muscle weakness	HP:0002747
1291	COL6A1	Increased laxity of ankles	HP:0006460
1291	COL6A1	Nocturnal hypoventilation	HP:0002877
1291	COL6A1	Respiratory failure	HP:0002878
1291	COL6A1	Ankle contracture	HP:0006466
1291	COL6A1	Increased endomysial connective tissue	HP:0100297
1291	COL6A1	Follicular hyperkeratosis	HP:0007502
1291	COL6A1	Hyperhidrosis	HP:0000975
1291	COL6A1	Hyperextensibility at wrists	HP:0005072
1291	COL6A1	Slender finger	HP:0001238
1291	COL6A1	Short neck	HP:0000470
1291	COL6A1	Proximal amyotrophy	HP:0007126
1291	COL6A1	Torticollis	HP:0000473
1291	COL6A1	Scoliosis	HP:0002650
1291	COL6A1	High palate	HP:0000218
1291	COL6A1	Abnormality of the cardiovascular system	HP:0001626
1291	COL6A1	Micrognathia	HP:0000347
1291	COL6A1	Type 1 muscle fiber predominance	HP:0003803
1291	COL6A1	Flexion contracture	HP:0001371
1291	COL6A1	Progressive	HP:0003676
1291	COL6A1	Slow progression	HP:0003677
1291	COL6A1	Recurrent lower respiratory tract infections	HP:0002783
1291	COL6A1	Talipes equinovarus	HP:0001762
1291	COL6A1	Failure to thrive	HP:0001508
1291	COL6A1	Congenital muscular torticollis	HP:0005988
1291	COL6A1	Increased variability in muscle fiber diameter	HP:0003557
1291	COL6A1	Cachexia	HP:0004326
1291	COL6A1	Muscular dystrophy	HP:0003560
1291	COL6A1	Spinal rigidity	HP:0003306
1291	COL6A1	Joint stiffness	HP:0001387
1291	COL6A1	Knee flexion contracture	HP:0006380
1291	COL6A1	Joint laxity	HP:0001388
1291	COL6A1	Progressive proximal muscle weakness	HP:0009073
1291	COL6A1	Generalized amyotrophy	HP:0003700
1291	COL6A1	Variable expressivity	HP:0003828
1291	COL6A1	Mildly elevated creatine kinase	HP:0008180
1291	COL6A1	Proximal muscle weakness	HP:0003701
1291	COL6A1	Motor delay	HP:0001270
1291	COL6A1	Kyphosis	HP:0002808
1291	COL6A1	Generalized muscle weakness	HP:0003324
1291	COL6A1	Slender build	HP:0001533
1291	COL6A1	Limb-girdle muscle weakness	HP:0003325
1291	COL6A1	Myopathy	HP:0003198
1292	COL6A2	Thoracolumbar scoliosis	HP:0002944
1292	COL6A2	Muscle fiber necrosis	HP:0003713
1292	COL6A2	EMG abnormality	HP:0003457
1292	COL6A2	EMG: myopathic abnormalities	HP:0003458
1292	COL6A2	Skeletal muscle atrophy	HP:0003202
1292	COL6A2	Facial palsy	HP:0010628
1292	COL6A2	Increased laxity of fingers	HP:0006149
1292	COL6A2	Autosomal dominant inheritance	HP:0000006
1292	COL6A2	Autosomal recessive inheritance	HP:0000007
1292	COL6A2	Infantile onset	HP:0003593
1292	COL6A2	Generalized hypotonia	HP:0001290
1292	COL6A2	Hip dislocation	HP:0002827
1292	COL6A2	Camptodactyly of finger	HP:0100490
1292	COL6A2	Multiple joint contractures	HP:0002828
1292	COL6A2	Long toe	HP:0010511
1292	COL6A2	Pes valgus	HP:0008081
1292	COL6A2	Decreased fetal movement	HP:0001558
1292	COL6A2	Diaphragmatic weakness	HP:0009113
1292	COL6A2	Protruding ear	HP:0000411
1292	COL6A2	Distal muscle weakness	HP:0002460
1292	COL6A2	Adducted thumb	HP:0001181
1292	COL6A2	Congenital muscular dystrophy	HP:0003741
1292	COL6A2	Elevated serum creatine kinase	HP:0003236
1292	COL6A2	Juvenile onset	HP:0003621
1292	COL6A2	Neonatal hypotonia	HP:0001319
1292	COL6A2	Feeding difficulties in infancy	HP:0008872
1292	COL6A2	Elbow flexion contracture	HP:0002987
1292	COL6A2	Abnormal palate morphology	HP:0000174
1292	COL6A2	Esotropia	HP:0000565
1292	COL6A2	Frequent falls	HP:0002359
1292	COL6A2	Round face	HP:0000311
1292	COL6A2	Respiratory insufficiency due to muscle weakness	HP:0002747
1292	COL6A2	Increased laxity of ankles	HP:0006460
1292	COL6A2	Nocturnal hypoventilation	HP:0002877
1292	COL6A2	Respiratory failure	HP:0002878
1292	COL6A2	Decreased pulmonary function	HP:0005952
1292	COL6A2	Increased connective tissue	HP:0009025
1292	COL6A2	Ankle contracture	HP:0006466
1292	COL6A2	Increased endomysial connective tissue	HP:0100297
1292	COL6A2	Follicular hyperkeratosis	HP:0007502
1292	COL6A2	Hyperhidrosis	HP:0000975
1292	COL6A2	Hyperextensibility at wrists	HP:0005072
1292	COL6A2	Slender finger	HP:0001238
1292	COL6A2	Short neck	HP:0000470
1292	COL6A2	Proximal amyotrophy	HP:0007126
1292	COL6A2	Torticollis	HP:0000473
1292	COL6A2	Scoliosis	HP:0002650
1292	COL6A2	High palate	HP:0000218
1292	COL6A2	Abnormality of the cardiovascular system	HP:0001626
1292	COL6A2	Micrognathia	HP:0000347
1292	COL6A2	Type 1 muscle fiber predominance	HP:0003803
1292	COL6A2	Flexion contracture	HP:0001371
1292	COL6A2	Progressive	HP:0003676
1292	COL6A2	Slow progression	HP:0003677
1292	COL6A2	Recurrent lower respiratory tract infections	HP:0002783
1292	COL6A2	Talipes equinovarus	HP:0001762
1292	COL6A2	Short stature	HP:0004322
1292	COL6A2	Failure to thrive	HP:0001508
1292	COL6A2	Congenital muscular torticollis	HP:0005988
1292	COL6A2	Increased variability in muscle fiber diameter	HP:0003557
1292	COL6A2	Cachexia	HP:0004326
1292	COL6A2	Muscular dystrophy	HP:0003560
1292	COL6A2	Spinal rigidity	HP:0003306
1292	COL6A2	Achilles tendon contracture	HP:0001771
1292	COL6A2	Joint stiffness	HP:0001387
1292	COL6A2	Knee flexion contracture	HP:0006380
1292	COL6A2	Joint laxity	HP:0001388
1292	COL6A2	Restricted neck movement due to contractures	HP:0005997
1292	COL6A2	Progressive proximal muscle weakness	HP:0009073
1292	COL6A2	Generalized amyotrophy	HP:0003700
1292	COL6A2	Variable expressivity	HP:0003828
1292	COL6A2	Mildly elevated creatine kinase	HP:0008180
1292	COL6A2	Proximal muscle weakness	HP:0003701
1292	COL6A2	Motor delay	HP:0001270
1292	COL6A2	Kyphosis	HP:0002808
1292	COL6A2	Lumbar hyperlordosis	HP:0002938
1292	COL6A2	Generalized muscle weakness	HP:0003324
1292	COL6A2	Slender build	HP:0001533
1292	COL6A2	Limb-girdle muscle weakness	HP:0003325
1292	COL6A2	Myopathy	HP:0003198
1293	COL6A3	Muscle fiber necrosis	HP:0003713
1293	COL6A3	EMG abnormality	HP:0003457
1293	COL6A3	EMG: myopathic abnormalities	HP:0003458
1293	COL6A3	Skeletal muscle atrophy	HP:0003202
1293	COL6A3	Facial palsy	HP:0010628
1293	COL6A3	Increased laxity of fingers	HP:0006149
1293	COL6A3	Autosomal dominant inheritance	HP:0000006
1293	COL6A3	Autosomal recessive inheritance	HP:0000007
1293	COL6A3	Infantile onset	HP:0003593
1293	COL6A3	Generalized hypotonia	HP:0001290
1293	COL6A3	Hip dislocation	HP:0002827
1293	COL6A3	Camptodactyly of finger	HP:0100490
1293	COL6A3	Multiple joint contractures	HP:0002828
1293	COL6A3	Long toe	HP:0010511
1293	COL6A3	Oromandibular dystonia	HP:0012048
1293	COL6A3	Pes valgus	HP:0008081
1293	COL6A3	Laryngeal dystonia	HP:0012049
1293	COL6A3	Limb dystonia	HP:0002451
1293	COL6A3	Decreased fetal movement	HP:0001558
1293	COL6A3	Diaphragmatic weakness	HP:0009113
1293	COL6A3	Protruding ear	HP:0000411
1293	COL6A3	Distal muscle weakness	HP:0002460
1293	COL6A3	Adducted thumb	HP:0001181
1293	COL6A3	Congenital muscular dystrophy	HP:0003741
1293	COL6A3	Elevated serum creatine kinase	HP:0003236
1293	COL6A3	Neonatal hypotonia	HP:0001319
1293	COL6A3	Feeding difficulties in infancy	HP:0008872
1293	COL6A3	Elbow flexion contracture	HP:0002987
1293	COL6A3	Abnormal palate morphology	HP:0000174
1293	COL6A3	Writer's cramp	HP:0002356
1293	COL6A3	Esotropia	HP:0000565
1293	COL6A3	Frequent falls	HP:0002359
1293	COL6A3	Round face	HP:0000311
1293	COL6A3	Upper limb postural tremor	HP:0007351
1293	COL6A3	Respiratory insufficiency due to muscle weakness	HP:0002747
1293	COL6A3	Increased laxity of ankles	HP:0006460
1293	COL6A3	Nocturnal hypoventilation	HP:0002877
1293	COL6A3	Respiratory failure	HP:0002878
1293	COL6A3	Ankle contracture	HP:0006466
1293	COL6A3	Increased endomysial connective tissue	HP:0100297
1293	COL6A3	Follicular hyperkeratosis	HP:0007502
1293	COL6A3	Hyperhidrosis	HP:0000975
1293	COL6A3	Hyperextensibility at wrists	HP:0005072
1293	COL6A3	Slender finger	HP:0001238
1293	COL6A3	Short neck	HP:0000470
1293	COL6A3	Proximal amyotrophy	HP:0007126
1293	COL6A3	Torticollis	HP:0000473
1293	COL6A3	Scoliosis	HP:0002650
1293	COL6A3	High palate	HP:0000218
1293	COL6A3	Abnormality of the cardiovascular system	HP:0001626
1293	COL6A3	Micrognathia	HP:0000347
1293	COL6A3	Type 1 muscle fiber predominance	HP:0003803
1293	COL6A3	Flexion contracture	HP:0001371
1293	COL6A3	Progressive	HP:0003676
1293	COL6A3	Slow progression	HP:0003677
1293	COL6A3	Recurrent lower respiratory tract infections	HP:0002783
1293	COL6A3	Talipes equinovarus	HP:0001762
1293	COL6A3	Axial dystonia	HP:0002530
1293	COL6A3	Failure to thrive	HP:0001508
1293	COL6A3	Congenital muscular torticollis	HP:0005988
1293	COL6A3	Increased variability in muscle fiber diameter	HP:0003557
1293	COL6A3	Cachexia	HP:0004326
1293	COL6A3	Muscular dystrophy	HP:0003560
1293	COL6A3	Spinal rigidity	HP:0003306
1293	COL6A3	Joint stiffness	HP:0001387
1293	COL6A3	Knee flexion contracture	HP:0006380
1293	COL6A3	Joint laxity	HP:0001388
1293	COL6A3	Progressive proximal muscle weakness	HP:0009073
1293	COL6A3	Generalized amyotrophy	HP:0003700
1293	COL6A3	Variable expressivity	HP:0003828
1293	COL6A3	Mildly elevated creatine kinase	HP:0008180
1293	COL6A3	Proximal muscle weakness	HP:0003701
1293	COL6A3	Motor delay	HP:0001270
1293	COL6A3	Kyphosis	HP:0002808
1293	COL6A3	Generalized muscle weakness	HP:0003324
1293	COL6A3	Slender build	HP:0001533
1293	COL6A3	Limb-girdle muscle weakness	HP:0003325
1293	COL6A3	Myopathy	HP:0003198
1293	COL6A3	Postural tremor	HP:0002174
1294	COL7A1	Refractory anemia	HP:0005505
1294	COL7A1	Hypoalbuminemia	HP:0003073
1294	COL7A1	Abnormal blistering of the skin	HP:0008066
1294	COL7A1	Autosomal dominant inheritance	HP:0000006
1294	COL7A1	Fragile skin	HP:0001030
1294	COL7A1	Cataract	HP:0000518
1294	COL7A1	Autosomal recessive inheritance	HP:0000007
1294	COL7A1	Absent toenail	HP:0001802
1294	COL7A1	Abnormal vagina morphology	HP:0000142
1294	COL7A1	Ectropion	HP:0000656
1294	COL7A1	Urinary retention	HP:0000016
1294	COL7A1	Progressive visual loss	HP:0000529
1294	COL7A1	Dystrophic toenail	HP:0001810
1294	COL7A1	Stenosis of the external auditory canal	HP:0000402
1294	COL7A1	Abnormality of metabolism/homeostasis	HP:0001939
1294	COL7A1	Absent fingernail	HP:0001817
1294	COL7A1	Hypoplasia of dental enamel	HP:0006297
1294	COL7A1	Abnormality of the anus	HP:0004378
1294	COL7A1	Hypopigmented skin patches	HP:0001053
1294	COL7A1	Carious teeth	HP:0000670
1294	COL7A1	Narrow mouth	HP:0000160
1294	COL7A1	Milia	HP:0001056
1294	COL7A1	Aplasia cutis congenita	HP:0001057
1294	COL7A1	Oral mucosal blisters	HP:0200097
1294	COL7A1	Osteopenia	HP:0000938
1294	COL7A1	Osteoporosis	HP:0000939
1294	COL7A1	Microglossia	HP:0000171
1294	COL7A1	Malnutrition	HP:0004395
1294	COL7A1	Squamous cell carcinoma	HP:0002860
1294	COL7A1	Recurrent skin infections	HP:0001581
1294	COL7A1	Corneal scarring	HP:0000559
1294	COL7A1	Atrophic scars	HP:0001075
1294	COL7A1	Delayed puberty	HP:0000823
1294	COL7A1	Abnormality of the skin	HP:0000951
1294	COL7A1	Ankyloglossia	HP:0010296
1294	COL7A1	Tongue atrophy	HP:0012473
1294	COL7A1	Visual loss	HP:0000572
1294	COL7A1	Alopecia	HP:0001596
1294	COL7A1	Pretibial blistering	HP:0012221
1294	COL7A1	Feeding difficulties	HP:0011968
1294	COL7A1	Loss of eyelashes	HP:0011457
1294	COL7A1	Hyperkeratosis	HP:0000962
1294	COL7A1	Thin skin	HP:0000963
1294	COL7A1	Urethral stricture	HP:0012227
1294	COL7A1	Abnormal toenail morphology	HP:0008388
1294	COL7A1	Dystrophic fingernails	HP:0008391
1294	COL7A1	Scarring alopecia of scalp	HP:0004552
1294	COL7A1	Abnormal fingernail morphology	HP:0001231
1294	COL7A1	Squamous cell carcinoma of the skin	HP:0006739
1294	COL7A1	Renal insufficiency	HP:0000083
1294	COL7A1	Spontaneous esophageal perforation	HP:0005203
1294	COL7A1	Nail dystrophy	HP:0008404
1294	COL7A1	Corneal erosion	HP:0200020
1294	COL7A1	Congenital localized absence of skin	HP:0007383
1294	COL7A1	Cheilitis	HP:0100825
1294	COL7A1	Mitten deformity	HP:0004057
1294	COL7A1	Flexion contracture	HP:0001371
1294	COL7A1	Atypical scarring of skin	HP:0000987
1294	COL7A1	Pruritus	HP:0000989
1294	COL7A1	Dysphagia	HP:0002015
1294	COL7A1	Papule	HP:0200034
1294	COL7A1	Constipation	HP:0002019
1294	COL7A1	Failure to thrive	HP:0001508
1294	COL7A1	Skin vesicle	HP:0200037
1294	COL7A1	Growth delay	HP:0001510
1294	COL7A1	Skin nodule	HP:0200036
1294	COL7A1	Skin erosion	HP:0200041
1294	COL7A1	Keratitis	HP:0000491
1294	COL7A1	Dilated cardiomyopathy	HP:0001644
1294	COL7A1	Hearing impairment	HP:0000365
1294	COL7A1	Dermal atrophy	HP:0004334
1294	COL7A1	Anemia	HP:0001903
1294	COL7A1	Nephropathy	HP:0000112
1294	COL7A1	Blepharitis	HP:0000498
1294	COL7A1	Nail dysplasia	HP:0002164
1294	COL7A1	Congenital onset	HP:0003577
1294	COL7A1	Esophageal stricture	HP:0002043
1294	COL7A1	Conjunctivitis	HP:0000509
9487	PIGL	Ichthyosis	HP:0008064
9487	PIGL	Joint contracture of the hand	HP:0009473
9487	PIGL	Low-set nipples	HP:0002562
9487	PIGL	Pulmonary valve atresia	HP:0010882
9487	PIGL	Aplastic clavicle	HP:0006660
9487	PIGL	Transposition of the great arteries	HP:0001669
9487	PIGL	Sparse hair	HP:0008070
9487	PIGL	Autosomal recessive inheritance	HP:0000007
9487	PIGL	Generalized hypotonia	HP:0001290
9487	PIGL	Cerebral atrophy	HP:0002059
9487	PIGL	Hip dislocation	HP:0002827
9487	PIGL	Overfolded helix	HP:0000396
9487	PIGL	Conductive hearing impairment	HP:0000405
9487	PIGL	Corneal opacity	HP:0007957
9487	PIGL	Large hands	HP:0001176
9487	PIGL	Clubbing of toes	HP:0100760
9487	PIGL	Wide mouth	HP:0000154
9487	PIGL	Hypodontia	HP:0000668
9487	PIGL	Epicanthus	HP:0000286
9487	PIGL	Erythema	HP:0010783
9487	PIGL	Depressed nasal bridge	HP:0005280
9487	PIGL	Fine hair	HP:0002213
9487	PIGL	Aplasia/Hypoplasia of the phalanges of the hand	HP:0009767
9487	PIGL	Long foot	HP:0001833
9487	PIGL	Abnormality of epiphysis morphology	HP:0005930
9487	PIGL	Cleft palate	HP:0000175
9487	PIGL	Widely spaced teeth	HP:0000687
9487	PIGL	Wide nasal bridge	HP:0000431
9487	PIGL	Thick lower lip vermilion	HP:0000179
9487	PIGL	Microdontia	HP:0000691
9487	PIGL	Abnormal dermatoglyphics	HP:0007477
9487	PIGL	Aplasia/Hypoplasia of the nipples	HP:0006709
9487	PIGL	Thick vermilion border	HP:0012471
9487	PIGL	Short palm	HP:0004279
9487	PIGL	Violent behavior	HP:0008760
9487	PIGL	Acute leukemia	HP:0002488
9487	PIGL	Hypertelorism	HP:0000316
9487	PIGL	Increased number of teeth	HP:0011069
9487	PIGL	Aplasia/Hypoplasia of the phalanges of the toes	HP:0010173
9487	PIGL	Acute lymphoblastic leukemia	HP:0006721
9487	PIGL	Short philtrum	HP:0000322
9487	PIGL	Hyperkeratosis	HP:0000962
9487	PIGL	Upslanted palpebral fissure	HP:0000582
9487	PIGL	Cerebral cortical atrophy	HP:0002120
9487	PIGL	Broad 2nd toe	HP:0100040
9487	PIGL	Depressed nasal ridge	HP:0000457
9487	PIGL	Ureteropelvic junction obstruction	HP:0000074
9487	PIGL	Palmoplantar hyperkeratosis	HP:0000972
9487	PIGL	Plagiocephaly	HP:0001357
9487	PIGL	Autism	HP:0000717
9487	PIGL	Duplicated collecting system	HP:0000081
9487	PIGL	Webbed neck	HP:0000465
9487	PIGL	Prominent forehead	HP:0011220
9487	PIGL	Frontal bossing	HP:0002007
9487	PIGL	Broad-based gait	HP:0002136
9487	PIGL	Ventricular septal defect	HP:0001629
9487	PIGL	Retinal coloboma	HP:0000480
9487	PIGL	Contracture of the proximal interphalangeal joint of the 5th finger	HP:0009185
9487	PIGL	Camptodactyly	HP:0012385
9487	PIGL	Intellectual disability	HP:0001249
9487	PIGL	Seizures	HP:0001250
9487	PIGL	Tall stature	HP:0000098
9487	PIGL	Growth abnormality	HP:0001507
9487	PIGL	Tetralogy of Fallot	HP:0001636
9487	PIGL	Muscular hypotonia	HP:0001252
9487	PIGL	Abnormality of the outer ear	HP:0000356
9487	PIGL	Strabismus	HP:0000486
9487	PIGL	Peripheral pulmonary artery stenosis	HP:0004969
9487	PIGL	Skin ulcer	HP:0200042
9487	PIGL	Hearing impairment	HP:0000365
9487	PIGL	Osteolysis	HP:0002797
9487	PIGL	Short foot	HP:0001773
9487	PIGL	Hypotrichosis	HP:0001006
9487	PIGL	Large for gestational age	HP:0001520
9487	PIGL	Clinodactyly of the 5th finger	HP:0004209
9487	PIGL	Brachycephaly	HP:0000248
9487	PIGL	Ptosis	HP:0000508
9487	PIGL	Hypoplastic nipples	HP:0002557
9487	PIGL	Hydronephrosis	HP:0000126
1296	COL8A2	Corneal opacity	HP:0007957
1296	COL8A2	Autosomal dominant inheritance	HP:0000006
1296	COL8A2	Corneal guttata	HP:0012038
1296	COL8A2	Descemet Membrane Folds	HP:0012039
1296	COL8A2	Corneal stromal edema	HP:0012040
1296	COL8A2	Corneal degeneration	HP:0007705
1296	COL8A2	Corneal dystrophy	HP:0001131
1297	COL9A1	Osteoarthritis	HP:0002758
1297	COL9A1	Autosomal dominant inheritance	HP:0000006
1297	COL9A1	Cataract	HP:0000518
1297	COL9A1	Amblyopia	HP:0000646
1297	COL9A1	Irregular distal femoral epiphysis	HP:0006407
1297	COL9A1	Childhood onset	HP:0011463
1297	COL9A1	Autosomal recessive inheritance	HP:0000007
1297	COL9A1	Gait disturbance	HP:0001288
1297	COL9A1	Arthralgia	HP:0002829
1297	COL9A1	Flat face	HP:0012368
1297	COL9A1	Malar flattening	HP:0000272
1297	COL9A1	Irregular epiphyses	HP:0010582
1297	COL9A1	Sensorineural hearing impairment	HP:0000407
1297	COL9A1	Schmorl's node	HP:0030041
1297	COL9A1	Small epiphyses	HP:0010585
1297	COL9A1	Genu varum	HP:0002970
1297	COL9A1	Micrognathia	HP:0000347
1297	COL9A1	Degenerative vitreoretinopathy	HP:0007964
1297	COL9A1	Retinal detachment	HP:0000541
1297	COL9A1	Vitreoretinopathy	HP:0007773
1297	COL9A1	Multiple epiphyseal dysplasia	HP:0002654
1297	COL9A1	Platyspondyly	HP:0000926
1297	COL9A1	Limitation of joint mobility	HP:0001376
1297	COL9A1	Epiphyseal dysplasia	HP:0002656
1297	COL9A1	Myopia	HP:0000545
1297	COL9A1	Short stature	HP:0004322
1297	COL9A1	Astigmatism	HP:0000483
1297	COL9A1	Arthralgia of the hip	HP:0003365
1297	COL9A1	Irregular vertebral endplates	HP:0003301
1297	COL9A1	Micromelia	HP:0002983
1297	COL9A1	Hip dysplasia	HP:0001385
1297	COL9A1	Genu valgum	HP:0002857
1297	COL9A1	Abnormality of epiphysis morphology	HP:0005930
1297	COL9A1	Flat capital femoral epiphysis	HP:0003370
1297	COL9A1	Cleft palate	HP:0000175
1297	COL9A1	Irregular capital femoral epiphysis	HP:0005041
1297	COL9A1	High myopia	HP:0011003
1297	COL9A1	Joint hyperflexibility	HP:0005692
1297	COL9A1	Flat distal femoral epiphysis	HP:0006398
1297	COL9A1	Abnormality of the knee	HP:0002815
1298	COL9A2	Osteoarthritis	HP:0002758
1298	COL9A2	Autosomal dominant inheritance	HP:0000006
1298	COL9A2	Cataract	HP:0000518
1298	COL9A2	Amblyopia	HP:0000646
1298	COL9A2	Childhood onset	HP:0011463
1298	COL9A2	Autosomal recessive inheritance	HP:0000007
1298	COL9A2	Gait disturbance	HP:0001288
1298	COL9A2	Arthralgia	HP:0002829
1298	COL9A2	Malar flattening	HP:0000272
1298	COL9A2	Flat face	HP:0012368
1298	COL9A2	Heterogeneous	HP:0001425
1298	COL9A2	Waddling gait	HP:0002515
1298	COL9A2	Irregular epiphyses	HP:0010582
1298	COL9A2	Sensorineural hearing impairment	HP:0000407
1298	COL9A2	Small epiphyses	HP:0010585
1298	COL9A2	Genu varum	HP:0002970
1298	COL9A2	Micrognathia	HP:0000347
1298	COL9A2	Retinal detachment	HP:0000541
1298	COL9A2	Vitreoretinopathy	HP:0007773
1298	COL9A2	Knee osteoarthritis	HP:0005086
1298	COL9A2	Platyspondyly	HP:0000926
1298	COL9A2	Limitation of joint mobility	HP:0001376
1298	COL9A2	Epiphyseal dysplasia	HP:0002656
1298	COL9A2	Myopia	HP:0000545
1298	COL9A2	Short stature	HP:0004322
1298	COL9A2	Astigmatism	HP:0000483
1298	COL9A2	Irregular vertebral endplates	HP:0003301
1298	COL9A2	Micromelia	HP:0002983
1298	COL9A2	Hip dysplasia	HP:0001385
1298	COL9A2	Genu valgum	HP:0002857
1298	COL9A2	Abnormality of epiphysis morphology	HP:0005930
1298	COL9A2	Mild short stature	HP:0003502
1298	COL9A2	Cleft palate	HP:0000175
1298	COL9A2	Short palm	HP:0004279
1298	COL9A2	High myopia	HP:0011003
1298	COL9A2	Joint hyperflexibility	HP:0005692
1298	COL9A2	Flattened epiphysis	HP:0003071
1299	COL9A3	Short metacarpal	HP:0010049
1299	COL9A3	Osteoarthritis	HP:0002758
1299	COL9A3	Cataract	HP:0000518
1299	COL9A3	Amblyopia	HP:0000646
1299	COL9A3	Autosomal dominant inheritance	HP:0000006
1299	COL9A3	Gait disturbance	HP:0001288
1299	COL9A3	Arthralgia	HP:0002829
1299	COL9A3	Malar flattening	HP:0000272
1299	COL9A3	Flat face	HP:0012368
1299	COL9A3	Heterogeneous	HP:0001425
1299	COL9A3	Irregular epiphyses	HP:0010582
1299	COL9A3	Sensorineural hearing impairment	HP:0000407
1299	COL9A3	Small epiphyses	HP:0010585
1299	COL9A3	Genu varum	HP:0002970
1299	COL9A3	Micrognathia	HP:0000347
1299	COL9A3	Retinal detachment	HP:0000541
1299	COL9A3	Vitreoretinopathy	HP:0007773
1299	COL9A3	Platyspondyly	HP:0000926
1299	COL9A3	Limitation of joint mobility	HP:0001376
1299	COL9A3	Epiphyseal dysplasia	HP:0002656
1299	COL9A3	Myopia	HP:0000545
1299	COL9A3	Short stature	HP:0004322
1299	COL9A3	Astigmatism	HP:0000483
1299	COL9A3	Irregular vertebral endplates	HP:0003301
1299	COL9A3	Micromelia	HP:0002983
1299	COL9A3	Delayed epiphyseal ossification	HP:0002663
1299	COL9A3	Abnormality of the hip joint	HP:0001384
1299	COL9A3	Hip dysplasia	HP:0001385
1299	COL9A3	Genu valgum	HP:0002857
1299	COL9A3	Abnormality of epiphysis morphology	HP:0005930
1299	COL9A3	Mild short stature	HP:0003502
1299	COL9A3	Cleft palate	HP:0000175
1299	COL9A3	Mildly elevated creatine kinase	HP:0008180
1299	COL9A3	Proximal muscle weakness	HP:0003701
1299	COL9A3	Joint hyperflexibility	HP:0005692
1300	COL10A1	Hypercalcemia	HP:0003072
1300	COL10A1	Metaphyseal cupping of proximal phalanges	HP:0006208
1300	COL10A1	Irregular acetabular roof	HP:0008833
1300	COL10A1	Brachydactyly	HP:0001156
1300	COL10A1	Autosomal dominant inheritance	HP:0000006
1300	COL10A1	Metaphyseal cupping of metacarpals	HP:0006028
1300	COL10A1	Distal tibial bowing	HP:0006414
1300	COL10A1	Moderately short stature	HP:0008848
1300	COL10A1	Craniosynostosis	HP:0001363
1300	COL10A1	Waddling gait	HP:0002515
1300	COL10A1	Frontal bossing	HP:0002007
1300	COL10A1	Genu varum	HP:0002970
1300	COL10A1	Short distal phalanx of finger	HP:0009882
1300	COL10A1	Micrognathia	HP:0000347
1300	COL10A1	Diaphyseal thickening	HP:0005019
1300	COL10A1	Platyspondyly	HP:0000926
1300	COL10A1	Proximal femoral metaphyseal abnormality	HP:0006431
1300	COL10A1	Limb undergrowth	HP:0009826
1300	COL10A1	Femoral bowing	HP:0002980
1300	COL10A1	Irregular vertebral endplates	HP:0003301
1300	COL10A1	Abnormality of epiphysis morphology	HP:0005930
1300	COL10A1	Enlargement of the proximal femoral epiphysis	HP:0003371
1300	COL10A1	Hearing impairment	HP:0000365
1300	COL10A1	Mild short stature	HP:0003502
1300	COL10A1	Metaphyseal chondrodysplasia	HP:0005871
1300	COL10A1	Abnormality of the metaphysis	HP:0000944
1300	COL10A1	Broad middle phalanx of finger	HP:0009844
1300	COL10A1	Short middle phalanx of finger	HP:0005819
1300	COL10A1	Abnormality of bone mineral density	HP:0004348
1300	COL10A1	Coxa vara	HP:0002812
1301	COL11A1	Broad ischia	HP:0100865
1301	COL11A1	Joint contracture of the hand	HP:0009473
1301	COL11A1	Protuberant abdomen	HP:0001538
1301	COL11A1	Omphalocele	HP:0001539
1301	COL11A1	Posterior vertebral hypoplasia	HP:0008451
1301	COL11A1	Wide anterior fontanel	HP:0000260
1301	COL11A1	Short ribs	HP:0000773
1301	COL11A1	Narrow chest	HP:0000774
1301	COL11A1	Cataract	HP:0000518
1301	COL11A1	Autosomal dominant inheritance	HP:0000006
1301	COL11A1	Developmental cataract	HP:0000519
1301	COL11A1	Irregular distal femoral epiphysis	HP:0006407
1301	COL11A1	Autosomal recessive inheritance	HP:0000007
1301	COL11A1	Proptosis	HP:0000520
1301	COL11A1	Hypoplastic toenails	HP:0001800
1301	COL11A1	Hypoplastic fingernail	HP:0001804
1301	COL11A1	Arthralgia	HP:0002829
1301	COL11A1	Malar flattening	HP:0000272
1301	COL11A1	Corneal opacity	HP:0007957
1301	COL11A1	Sparse and thin eyebrow	HP:0000535
1301	COL11A1	Midface retrusion	HP:0011800
1301	COL11A1	Short femur	HP:0003097
1301	COL11A1	Retinal detachment	HP:0000541
1301	COL11A1	Epicanthus	HP:0000286
1301	COL11A1	Myopia	HP:0000545
1301	COL11A1	Genu valgum	HP:0002857
1301	COL11A1	Respiratory insufficiency	HP:0002093
1301	COL11A1	Narrow greater sacrosciatic notches	HP:0003375
1301	COL11A1	Esotropia	HP:0000565
1301	COL11A1	Round face	HP:0000311
1301	COL11A1	Bell-shaped thorax	HP:0001591
1301	COL11A1	Irregular proximal tibial epiphyses	HP:0006456
1301	COL11A1	Ectopia lentis	HP:0001083
1301	COL11A1	Hypertelorism	HP:0000316
1301	COL11A1	Joint hyperflexibility	HP:0005692
1301	COL11A1	Widely patent coronal suture	HP:0005442
1301	COL11A1	Hypoplasia of the maxilla	HP:0000327
1301	COL11A1	Plagiocephaly	HP:0001357
1301	COL11A1	Flat face	HP:0012368
1301	COL11A1	Premature birth	HP:0001622
1301	COL11A1	Calcification of falx cerebri	HP:0005462
1301	COL11A1	Long philtrum	HP:0000343
1301	COL11A1	Micrognathia	HP:0000347
1301	COL11A1	Vitreoretinopathy	HP:0007773
1301	COL11A1	Spondyloepiphyseal dysplasia	HP:0002655
1301	COL11A1	Epiphyseal dysplasia	HP:0002656
1301	COL11A1	Camptodactyly	HP:0012385
1301	COL11A1	Widely patent sagittal suture	HP:0005476
1301	COL11A1	Joint hypermobility	HP:0001382
1301	COL11A1	Hypoplastic ischia	HP:0003175
1301	COL11A1	Hearing abnormality	HP:0000364
1301	COL11A1	Low-set ears	HP:0000369
1301	COL11A1	Coxa valga	HP:0002673
1301	COL11A1	Clinodactyly of the 5th finger	HP:0004209
1301	COL11A1	Hypoplastic scapulae	HP:0000882
1301	COL11A1	Thin ribs	HP:0000883
1301	COL11A1	Small hand	HP:0200055
1301	COL11A1	Broad ribs	HP:0000885
1301	COL11A1	Patent foramen ovale	HP:0001655
1301	COL11A1	Abnormality of the pinna	HP:0000377
1301	COL11A1	Long clavicles	HP:0000890
1301	COL11A1	Short nose	HP:0003196
1301	COL11A1	Thickened calvaria	HP:0002684
1301	COL11A1	Nystagmus	HP:0000639
1301	COL11A1	Absent frontal sinuses	HP:0002688
1301	COL11A1	Brachydactyly	HP:0001156
1301	COL11A1	Amblyopia	HP:0000646
1301	COL11A1	Thoracic hypoplasia	HP:0005257
1301	COL11A1	Camptodactyly of finger	HP:0100490
1301	COL11A1	Anterior rib cupping	HP:0000907
1301	COL11A1	Sparse eyelashes	HP:0000653
1301	COL11A1	Arachnodactyly	HP:0001166
1301	COL11A1	Sensorineural hearing impairment	HP:0000407
1301	COL11A1	Posterior rib cupping	HP:0000922
1301	COL11A1	Meningeal calcification	HP:0100250
1301	COL11A1	Platyspondyly	HP:0000926
1301	COL11A1	Narrow mouth	HP:0000160
1301	COL11A1	Depressed nasal bridge	HP:0005280
1301	COL11A1	Glossoptosis	HP:0000162
1301	COL11A1	Macrodontia of permanent maxillary central incisor	HP:0000675
1301	COL11A1	Abnormality of the dentition	HP:0000164
1301	COL11A1	Femoral bowing	HP:0002980
1301	COL11A1	Micromelia	HP:0002983
1301	COL11A1	Radial bowing	HP:0002986
1301	COL11A1	Abnormal diaphysis morphology	HP:0000940
1301	COL11A1	Hypoplasia of the zygomatic bone	HP:0010669
1301	COL11A1	Cleft palate	HP:0000175
1301	COL11A1	Wide nasal bridge	HP:0000431
1301	COL11A1	Abnormality of the metaphysis	HP:0000944
1301	COL11A1	Hypoplastic frontal sinuses	HP:0002738
1301	COL11A1	Hypoplastic ilia	HP:0000946
1301	COL11A1	Thick lower lip vermilion	HP:0000179
1301	COL11A1	Dumbbell-shaped long bone	HP:0000947
1301	COL11A1	Short palm	HP:0004279
1301	COL11A1	Bifid uvula	HP:0000193
1301	COL11A1	Osteoarthritis	HP:0002758
1301	COL11A1	Hypohidrosis	HP:0000966
1301	COL11A1	Long fingers	HP:0100807
1301	COL11A1	Pierre-Robin sequence	HP:0000201
1301	COL11A1	Rhizomelia	HP:0008905
1301	COL11A1	Anteverted nares	HP:0000463
1301	COL11A1	Wide tufts of distal phalanges	HP:0006095
1301	COL11A1	Cerebral calcification	HP:0002514
1301	COL11A1	Short long bone	HP:0003026
1301	COL11A1	Short neck	HP:0000470
1301	COL11A1	Thick upper lip vermilion	HP:0000215
1301	COL11A1	Frontal bossing	HP:0002007
1301	COL11A1	Ulnar bowing	HP:0003031
1301	COL11A1	High palate	HP:0000218
1301	COL11A1	Upper airway obstruction	HP:0002781
1301	COL11A1	Fibular hypoplasia	HP:0003038
1301	COL11A1	Arthropathy	HP:0003040
1301	COL11A1	Short stature	HP:0004322
1301	COL11A1	Astigmatism	HP:0000483
1301	COL11A1	Irregular vertebral endplates	HP:0003301
1301	COL11A1	Megalocornea	HP:0000485
1301	COL11A1	Strabismus	HP:0000486
1301	COL11A1	Abnormal vitreous humor morphology	HP:0004327
1301	COL11A1	Retinopathy	HP:0000488
1301	COL11A1	Short foot	HP:0001773
1301	COL11A1	Downslanted palpebral fissures	HP:0000494
1301	COL11A1	Hypotrichosis	HP:0001006
1301	COL11A1	Abnormal form of the vertebral bodies	HP:0003312
1301	COL11A1	Stillbirth	HP:0003826
1301	COL11A1	Lens luxation	HP:0012019
1301	COL11A1	Glaucoma	HP:0000501
1301	COL11A1	Thin clavicles	HP:0006645
1301	COL11A1	Broad long bones	HP:0005622
1301	COL11A1	Brachycephaly	HP:0000248
1301	COL11A1	High myopia	HP:0011003
1301	COL11A1	Small distal femoral epiphysis	HP:0012283
1301	COL11A1	Small proximal tibial epiphyses	HP:0012284
1301	COL11A1	Hydrops fetalis	HP:0001789
9493	KIF23	Gingival bleeding	HP:0000225
9493	KIF23	Short stature	HP:0004322
9493	KIF23	Anisocytosis	HP:0011273
9493	KIF23	Melena	HP:0002249
9493	KIF23	Abnormal cellular phenotype	HP:0025354
9493	KIF23	Abnormal proerythroblast morphology	HP:0025035
9493	KIF23	Headache	HP:0002315
9493	KIF23	Increased total iron binding capacity	HP:0025196
9493	KIF23	Increased mean corpuscular volume	HP:0005518
9493	KIF23	Anemia	HP:0001903
9493	KIF23	Post-partum hemorrhage	HP:0011891
9493	KIF23	Pallor	HP:0000980
9493	KIF23	Hyperbilirubinemia	HP:0002904
9493	KIF23	Fatigue	HP:0012378
9493	KIF23	Increased serum iron	HP:0003452
9493	KIF23	Oral cavity bleeding	HP:0030140
9493	KIF23	Elevated hepatic transaminase	HP:0002910
9493	KIF23	Poikilocytosis	HP:0004447
1302	COL11A2	Pectus carinatum	HP:0000768
1302	COL11A2	Protuberant abdomen	HP:0001538
1302	COL11A2	Omphalocele	HP:0001539
1302	COL11A2	Recurrent pneumonia	HP:0006532
1302	COL11A2	Wide anterior fontanel	HP:0000260
1302	COL11A2	Brachydactyly	HP:0001156
1302	COL11A2	Short ribs	HP:0000773
1302	COL11A2	Narrow chest	HP:0000774
1302	COL11A2	Autosomal dominant inheritance	HP:0000006
1302	COL11A2	Autosomal recessive inheritance	HP:0000007
1302	COL11A2	Proptosis	HP:0000520
1302	COL11A2	Thoracic hypoplasia	HP:0005257
1302	COL11A2	Aplasia/Hypoplasia of the capital femoral epiphysis	HP:0005003
1302	COL11A2	Camptodactyly of finger	HP:0100490
1302	COL11A2	Mild neurosensory hearing impairment	HP:0008587
1302	COL11A2	Hypoplastic fingernail	HP:0001804
1302	COL11A2	Arthralgia	HP:0002829
1302	COL11A2	Premature osteoarthritis	HP:0003088
1302	COL11A2	Malar flattening	HP:0000272
1302	COL11A2	Delayed gross motor development	HP:0002194
1302	COL11A2	Conductive hearing impairment	HP:0000405
1302	COL11A2	Sensorineural hearing impairment	HP:0000407
1302	COL11A2	Midface retrusion	HP:0011800
1302	COL11A2	Short femur	HP:0003097
1302	COL11A2	Mixed hearing impairment	HP:0000410
1302	COL11A2	Abnormal metacarpal morphology	HP:0005916
1302	COL11A2	Bulbous nose	HP:0000414
1302	COL11A2	Platyspondyly	HP:0000926
1302	COL11A2	Narrow mouth	HP:0000160
1302	COL11A2	Depressed nasal bridge	HP:0005280
1302	COL11A2	Myopia	HP:0000545
1302	COL11A2	Glossoptosis	HP:0000162
1302	COL11A2	Micromelia	HP:0002983
1302	COL11A2	Feeding difficulties in infancy	HP:0008872
1302	COL11A2	Exostoses	HP:0100777
1302	COL11A2	Submucous cleft soft palate	HP:0011819
1302	COL11A2	Abnormal diaphysis morphology	HP:0000940
1302	COL11A2	Respiratory insufficiency	HP:0002093
1302	COL11A2	Cleft palate	HP:0000175
1302	COL11A2	Abnormality of the metaphysis	HP:0000944
1302	COL11A2	Hypoplastic ilia	HP:0000946
1302	COL11A2	Short palm	HP:0004279
1302	COL11A2	Abnormality of the skin	HP:0000951
1302	COL11A2	Round face	HP:0000311
1302	COL11A2	Bell-shaped thorax	HP:0001591
1302	COL11A2	Synostosis of carpal bones	HP:0005048
1302	COL11A2	Hypertelorism	HP:0000316
1302	COL11A2	Short metacarpal	HP:0010049
1302	COL11A2	Osteoarthritis	HP:0002758
1302	COL11A2	Flared metaphysis	HP:0003015
1302	COL11A2	Large tarsal bones	HP:0004679
1302	COL11A2	Metaphyseal widening	HP:0003016
1302	COL11A2	Pierre-Robin sequence	HP:0000201
1302	COL11A2	Depressed nasal ridge	HP:0000457
1302	COL11A2	Rhizomelia	HP:0008905
1302	COL11A2	Short phalanx of finger	HP:0009803
1302	COL11A2	Plagiocephaly	HP:0001357
1302	COL11A2	Metaphyseal cupping	HP:0003021
1302	COL11A2	Anteverted nares	HP:0000463
1302	COL11A2	Short long bone	HP:0003026
1302	COL11A2	Enlarged epiphyses	HP:0010580
1302	COL11A2	Short neck	HP:0000470
1302	COL11A2	Long philtrum	HP:0000343
1302	COL11A2	Beaking of vertebral bodies	HP:0004568
1302	COL11A2	Coronal cleft vertebrae	HP:0003417
1302	COL11A2	Abnormal lacrimal duct morphology	HP:0011481
1302	COL11A2	Flexion contracture	HP:0001371
1302	COL11A2	Micrognathia	HP:0000347
1302	COL11A2	Prominent interphalangeal joints	HP:0006237
1302	COL11A2	Enlarged joints	HP:0003037
1302	COL11A2	Ventricular septal defect	HP:0001629
1302	COL11A2	Abnormality of the eye	HP:0000478
1302	COL11A2	Epiphyseal dysplasia	HP:0002656
1302	COL11A2	Short stature	HP:0004322
1302	COL11A2	Hypoplastic pubic bone	HP:0003173
1302	COL11A2	Strabismus	HP:0000486
1302	COL11A2	Hypoplastic ischia	HP:0003175
1302	COL11A2	Muscular hypotonia of the trunk	HP:0008936
1302	COL11A2	Attention deficit hyperactivity disorder	HP:0007018
1302	COL11A2	Hyperlordosis	HP:0003307
1302	COL11A2	Joint stiffness	HP:0001387
1302	COL11A2	Hearing abnormality	HP:0000364
1302	COL11A2	Downslanted palpebral fissures	HP:0000494
1302	COL11A2	Delayed speech and language development	HP:0000750
1302	COL11A2	Abnormal form of the vertebral bodies	HP:0003312
1302	COL11A2	Low-set ears	HP:0000369
1302	COL11A2	Hypoplastic scapulae	HP:0000882
1302	COL11A2	Broad ribs	HP:0000885
1302	COL11A2	Kyphosis	HP:0002808
1302	COL11A2	Lumbar hyperlordosis	HP:0002938
1302	COL11A2	Short nose	HP:0003196
1302	COL11A2	Pectus excavatum	HP:0000767
1303	COL12A1	EMG abnormality	HP:0003457
1303	COL12A1	EMG: myopathic abnormalities	HP:0003458
1303	COL12A1	Facial palsy	HP:0010628
1303	COL12A1	Areflexia	HP:0001284
1303	COL12A1	Increased laxity of fingers	HP:0006149
1303	COL12A1	Generalized hypotonia	HP:0001290
1303	COL12A1	Hip dislocation	HP:0002827
1303	COL12A1	Camptodactyly of finger	HP:0100490
1303	COL12A1	Multiple joint contractures	HP:0002828
1303	COL12A1	Long toe	HP:0010511
1303	COL12A1	Pes valgus	HP:0008081
1303	COL12A1	Decreased fetal movement	HP:0001558
1303	COL12A1	Diaphragmatic weakness	HP:0009113
1303	COL12A1	Adducted thumb	HP:0001181
1303	COL12A1	Congenital muscular dystrophy	HP:0003741
1303	COL12A1	Elevated serum creatine kinase	HP:0003236
1303	COL12A1	Neonatal hypotonia	HP:0001319
1303	COL12A1	Elbow flexion contracture	HP:0002987
1303	COL12A1	Muscle weakness	HP:0001324
1303	COL12A1	Respiratory insufficiency	HP:0002093
1303	COL12A1	Abnormal palate morphology	HP:0000174
1303	COL12A1	Esotropia	HP:0000565
1303	COL12A1	Frequent falls	HP:0002359
1303	COL12A1	Stooped posture	HP:0025403
1303	COL12A1	Respiratory failure	HP:0002878
1303	COL12A1	Kyphoscoliosis	HP:0002751
1303	COL12A1	Delayed ability to walk	HP:0031936
1303	COL12A1	Ankle contracture	HP:0006466
1303	COL12A1	Increased endomysial connective tissue	HP:0100297
1303	COL12A1	Follicular hyperkeratosis	HP:0007502
1303	COL12A1	Hyperextensibility at wrists	HP:0005072
1303	COL12A1	Slender finger	HP:0001238
1303	COL12A1	Short neck	HP:0000470
1303	COL12A1	Difficulty running	HP:0009046
1303	COL12A1	Proximal amyotrophy	HP:0007126
1303	COL12A1	Torticollis	HP:0000473
1303	COL12A1	Scoliosis	HP:0002650
1303	COL12A1	High palate	HP:0000218
1303	COL12A1	Micrognathia	HP:0000347
1303	COL12A1	Flexion contracture	HP:0001371
1303	COL12A1	Increased variability in muscle fiber diameter	HP:0003557
1303	COL12A1	Joint hypermobility	HP:0001382
1303	COL12A1	Cachexia	HP:0004326
1303	COL12A1	Muscular dystrophy	HP:0003560
1303	COL12A1	Spinal rigidity	HP:0003306
1303	COL12A1	Joint stiffness	HP:0001387
1303	COL12A1	Knee flexion contracture	HP:0006380
1303	COL12A1	Joint laxity	HP:0001388
1303	COL12A1	Progressive proximal muscle weakness	HP:0009073
1303	COL12A1	Generalized amyotrophy	HP:0003700
1303	COL12A1	Motor delay	HP:0001270
1303	COL12A1	Kyphosis	HP:0002808
1303	COL12A1	Generalized muscle weakness	HP:0003324
1303	COL12A1	Myopathy	HP:0003198
9496	TBX4	Chronic otitis media	HP:0000389
9496	TBX4	Autosomal dominant inheritance	HP:0000006
9496	TBX4	Hypoplastic toenails	HP:0001800
9496	TBX4	Long toe	HP:0010511
9496	TBX4	Long eyelashes	HP:0000527
9496	TBX4	Malar flattening	HP:0000272
9496	TBX4	Short femur	HP:0003097
9496	TBX4	Bifid nose	HP:0011803
9496	TBX4	Protruding ear	HP:0000411
9496	TBX4	Bulbous nose	HP:0000414
9496	TBX4	Epicanthus	HP:0000286
9496	TBX4	Depressed nasal bridge	HP:0005280
9496	TBX4	Narrow mouth	HP:0000160
9496	TBX4	Abnormality of epiphysis morphology	HP:0005930
9496	TBX4	Flat capital femoral epiphysis	HP:0003370
9496	TBX4	Patellar aplasia	HP:0006443
9496	TBX4	Pulmonary arterial hypertension	HP:0002092
9496	TBX4	Bilateral single transverse palmar creases	HP:0007598
9496	TBX4	Dyspnea	HP:0002094
9496	TBX4	Widely spaced teeth	HP:0000687
9496	TBX4	Cleft palate	HP:0000175
9496	TBX4	Shawl scrotum	HP:0000049
9496	TBX4	Talocalcaneal synostosis	HP:0005682
9496	TBX4	Patellar dislocation	HP:0002999
9496	TBX4	Hypertelorism	HP:0000316
9496	TBX4	Sandal gap	HP:0001852
9496	TBX4	Sacral dimple	HP:0000960
9496	TBX4	Hyperreflexia	HP:0001347
9496	TBX4	Behavioral abnormality	HP:0000708
9496	TBX4	Long fingers	HP:0100807
9496	TBX4	Mild global developmental delay	HP:0011342
9496	TBX4	Coxa magna	HP:0003279
9496	TBX4	Moderate global developmental delay	HP:0011343
9496	TBX4	Wide capital femoral epiphyses	HP:0008784
9496	TBX4	Frontal bossing	HP:0002007
9496	TBX4	Scoliosis	HP:0002650
9496	TBX4	High palate	HP:0000218
9496	TBX4	Micrognathia	HP:0000347
9496	TBX4	Atrial septal defect	HP:0001631
9496	TBX4	Limitation of joint mobility	HP:0001376
9496	TBX4	Hypoplasia of the lesser trochanter	HP:0008801
9496	TBX4	Talipes equinovarus	HP:0001762
9496	TBX4	Short stature	HP:0004322
9496	TBX4	Aplasia/Hypoplasia of the patella	HP:0006498
9496	TBX4	Pes planus	HP:0001763
9496	TBX4	Failure to thrive	HP:0001508
9496	TBX4	Muscular hypotonia	HP:0001252
9496	TBX4	Gastroesophageal reflux	HP:0002020
9496	TBX4	Strabismus	HP:0000486
9496	TBX4	Intrauterine growth retardation	HP:0001511
9496	TBX4	Hip dysplasia	HP:0001385
9496	TBX4	Patent ductus arteriosus	HP:0001643
9496	TBX4	Hearing impairment	HP:0000365
9496	TBX4	Delayed speech and language development	HP:0000750
9496	TBX4	Shallow acetabular fossae	HP:0003182
9496	TBX4	Clinodactyly of the 5th finger	HP:0004209
9496	TBX4	Blepharitis	HP:0000498
9496	TBX4	Congenital contracture	HP:0002803
9496	TBX4	Patellar hypoplasia	HP:0003065
9496	TBX4	Highly arched eyebrow	HP:0002553
9496	TBX4	Microcephaly	HP:0000252
9496	TBX4	Coxa vara	HP:0002812
1305	COL13A1	Pectus carinatum	HP:0000768
1305	COL13A1	Narrow jaw	HP:0012801
1305	COL13A1	Bulbar palsy	HP:0001283
1305	COL13A1	Areflexia	HP:0001284
1305	COL13A1	Autosomal recessive inheritance	HP:0000007
1305	COL13A1	Motor polyneuropathy	HP:0007178
1305	COL13A1	Generalized hypotonia	HP:0001290
1305	COL13A1	Long face	HP:0000276
1305	COL13A1	Episodic respiratory distress	HP:0004885
1305	COL13A1	Decreased fetal movement	HP:0001558
1305	COL13A1	Retrognathia	HP:0000278
1305	COL13A1	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
1305	COL13A1	Polyhydramnios	HP:0001561
1305	COL13A1	Drowsiness	HP:0002329
1305	COL13A1	Thoracic kyphoscoliosis	HP:0005659
1305	COL13A1	Reduced tendon reflexes	HP:0001315
1305	COL13A1	Central sleep apnea	HP:0010536
1305	COL13A1	Restrictive ventilatory defect	HP:0002091
1305	COL13A1	Weakness of the intrinsic hand muscles	HP:0009005
1305	COL13A1	Respiratory insufficiency	HP:0002093
1305	COL13A1	Difficulty walking	HP:0002355
1305	COL13A1	Microretrognathia	HP:0000308
1305	COL13A1	Esotropia	HP:0000565
1305	COL13A1	Frontalis muscle weakness	HP:0004661
1305	COL13A1	Obstructive sleep apnea	HP:0002870
1305	COL13A1	Respiratory arrest	HP:0005943
1305	COL13A1	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
1305	COL13A1	Staring gaze	HP:0025401
1305	COL13A1	Exertional dyspnea	HP:0002875
1305	COL13A1	Easy fatigability	HP:0003388
1305	COL13A1	Respiratory failure	HP:0002878
1305	COL13A1	Sudden episodic apnea	HP:0002882
1305	COL13A1	Stridor	HP:0010307
1305	COL13A1	Decreased miniature endplate potentials	HP:0003402
1305	COL13A1	Nasal speech	HP:0001611
1305	COL13A1	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
1305	COL13A1	Weak cry	HP:0001612
1305	COL13A1	Dysphonia	HP:0001618
1305	COL13A1	Ophthalmoparesis	HP:0000597
1305	COL13A1	EEG with polyspike wave complexes	HP:0002392
1305	COL13A1	Ophthalmoplegia	HP:0000602
1305	COL13A1	Micrognathia	HP:0000347
1305	COL13A1	Distal lower limb muscle weakness	HP:0009053
1305	COL13A1	Congenital hip dislocation	HP:0001374
1305	COL13A1	Joint laxity	HP:0001388
1305	COL13A1	Distal amyotrophy	HP:0003693
1305	COL13A1	Low-set ears	HP:0000369
1305	COL13A1	Decreased size of nerve terminals	HP:0003443
1305	COL13A1	Proximal muscle weakness	HP:0003701
1305	COL13A1	Poor head control	HP:0002421
1305	COL13A1	Weakness of long finger extensor muscles	HP:0009077
1305	COL13A1	Choking episodes	HP:0030842
1305	COL13A1	Nystagmus	HP:0000639
1305	COL13A1	EMG: myopathic abnormalities	HP:0003458
1305	COL13A1	Skeletal muscle atrophy	HP:0003202
1305	COL13A1	Triceps weakness	HP:0031108
1305	COL13A1	Facial palsy	HP:0010628
1305	COL13A1	Central hypotonia	HP:0011398
1305	COL13A1	Neck flexor weakness	HP:0003722
1305	COL13A1	Diplopia	HP:0000651
1305	COL13A1	Ankle weakness	HP:0031374
1305	COL13A1	Fatigable weakness	HP:0003473
1305	COL13A1	Delayed gross motor development	HP:0002194
1305	COL13A1	Toe walking	HP:0040083
1305	COL13A1	Sensorineural hearing impairment	HP:0000407
1305	COL13A1	Recurrent respiratory infections	HP:0002205
1305	COL13A1	Abnormality of masticatory muscle	HP:0410011
1305	COL13A1	EMG: impaired neuromuscular transmission	HP:0100285
1305	COL13A1	Kyphoscoliosis	HP:0002751
1305	COL13A1	Feeding difficulties	HP:0011968
1305	COL13A1	Cyanosis	HP:0000961
1305	COL13A1	Muscle fiber atrophy	HP:0100295
1305	COL13A1	Nasal regurgitation	HP:0011469
1305	COL13A1	Neck muscle weakness	HP:0000467
1305	COL13A1	Waddling gait	HP:0002515
1305	COL13A1	High palate	HP:0000218
1305	COL13A1	Exercise intolerance	HP:0003546
1305	COL13A1	Type 1 muscle fiber predominance	HP:0003803
1305	COL13A1	Shoulder girdle muscle weakness	HP:0003547
1305	COL13A1	Orthopnea	HP:0012764
1305	COL13A1	Dysphagia	HP:0002015
1305	COL13A1	Recurrent lower respiratory tract infections	HP:0002783
1305	COL13A1	Pes cavus	HP:0001761
1305	COL13A1	Intellectual disability	HP:0001249
1305	COL13A1	Seizures	HP:0001250
1305	COL13A1	Ataxia	HP:0001251
1305	COL13A1	Hip flexor weakness	HP:0012515
1305	COL13A1	Gastroesophageal reflux	HP:0002020
1305	COL13A1	Reduced vital capacity	HP:0002792
1305	COL13A1	Spinal rigidity	HP:0003306
1305	COL13A1	Poor suck	HP:0002033
1305	COL13A1	Hyporeflexia	HP:0001265
1305	COL13A1	Arthrogryposis multiplex congenita	HP:0002804
1305	COL13A1	Fatigable weakness of respiratory muscles	HP:0030196
1305	COL13A1	Motor delay	HP:0001270
1305	COL13A1	Fatigable weakness of neck muscles	HP:0030199
1305	COL13A1	Congenital onset	HP:0003577
1305	COL13A1	Spinal deformities	HP:0008443
1305	COL13A1	Generalized muscle weakness	HP:0003324
1305	COL13A1	Ptosis	HP:0000508
1305	COL13A1	Limb-girdle muscle weakness	HP:0003325
9499	MYOT	EMG: myopathic abnormalities	HP:0003458
9499	MYOT	Myofibrillar myopathy	HP:0003715
9499	MYOT	Areflexia	HP:0001284
9499	MYOT	Fatty replacement of skeletal muscle	HP:0012548
9499	MYOT	Autosomal dominant inheritance	HP:0000006
9499	MYOT	Neck flexor weakness	HP:0003722
9499	MYOT	Loss of ability to walk in first decade	HP:0006794
9499	MYOT	Multiple joint contractures	HP:0002828
9499	MYOT	Abnormal muscle fiber myotilin	HP:0030226
9499	MYOT	Abnormality of metabolism/homeostasis	HP:0001939
9499	MYOT	Autophagic vacuoles	HP:0003736
9499	MYOT	Distal muscle weakness	HP:0002460
9499	MYOT	Elevated serum creatine kinase	HP:0003236
9499	MYOT	Hyporeflexia of lower limbs	HP:0002600
9499	MYOT	Facial hypotonia	HP:0000297
9499	MYOT	Difficulty walking	HP:0002355
9499	MYOT	Tremor	HP:0001337
9499	MYOT	Respiratory failure	HP:0002878
9499	MYOT	Foot dorsiflexor weakness	HP:0009027
9499	MYOT	Increased endomysial connective tissue	HP:0100297
9499	MYOT	Nasal speech	HP:0001611
9499	MYOT	Muscle fiber cytoplasmatic inclusion bodies	HP:0100303
9499	MYOT	Reduced maximal inspiratory pressure	HP:0012496
9499	MYOT	Waddling gait	HP:0002515
9499	MYOT	Proximal amyotrophy	HP:0007126
9499	MYOT	Broad-based gait	HP:0002136
9499	MYOT	Onset	HP:0003674
9499	MYOT	Shoulder girdle muscle weakness	HP:0003547
9499	MYOT	Slow progression	HP:0003677
9499	MYOT	Limited knee flexion/extension	HP:0005085
9499	MYOT	Dysphagia	HP:0002015
9499	MYOT	Difficulty climbing stairs	HP:0003551
9499	MYOT	Muscle stiffness	HP:0003552
9499	MYOT	Hip flexor weakness	HP:0012515
9499	MYOT	Increased variability in muscle fiber diameter	HP:0003557
9499	MYOT	Cardiomyopathy	HP:0001638
9499	MYOT	Peripheral neuropathy	HP:0009830
9499	MYOT	Progressive distal muscle weakness	HP:0009063
9499	MYOT	Limited elbow flexion	HP:0006376
9499	MYOT	Reduced vital capacity	HP:0002792
9499	MYOT	Achilles tendon contracture	HP:0001771
9499	MYOT	Inability to walk	HP:0002540
9499	MYOT	Dysarthria	HP:0001260
9499	MYOT	Distal amyotrophy	HP:0003693
9499	MYOT	Absent Achilles reflex	HP:0003438
9499	MYOT	Progressive proximal muscle weakness	HP:0009073
9499	MYOT	Hyporeflexia	HP:0001265
9499	MYOT	Difficulty standing	HP:0003698
9499	MYOT	Variable expressivity	HP:0003828
9499	MYOT	Proximal muscle weakness	HP:0003701
9499	MYOT	Polyneuropathy	HP:0001271
9499	MYOT	Adult onset	HP:0003581
9499	MYOT	Myopathy	HP:0003198
9499	MYOT	Myalgia	HP:0003326
1308	COL17A1	Abnormal blistering of the skin	HP:0008066
1308	COL17A1	Plantar hyperkeratosis	HP:0007556
1308	COL17A1	Anonychia	HP:0001798
1308	COL17A1	Autosomal dominant inheritance	HP:0000006
1308	COL17A1	Epiphora	HP:0009926
1308	COL17A1	Autosomal recessive inheritance	HP:0000007
1308	COL17A1	Scarring alopecia of scalp	HP:0004552
1308	COL17A1	Palmar hyperhidrosis	HP:0006089
1308	COL17A1	Camptodactyly of finger	HP:0100490
1308	COL17A1	Fragile nails	HP:0001808
1308	COL17A1	Heterogeneous	HP:0001425
1308	COL17A1	Nail dystrophy	HP:0008404
1308	COL17A1	Palmoplantar keratoderma	HP:0000982
1308	COL17A1	Corneal erosion	HP:0200020
1308	COL17A1	Hypoplasia of dental enamel	HP:0006297
1308	COL17A1	Hypodontia	HP:0000668
1308	COL17A1	Carious teeth	HP:0000670
1308	COL17A1	Adermatoglyphia	HP:0007455
1308	COL17A1	Milia	HP:0001056
1308	COL17A1	Aplasia cutis congenita	HP:0001057
1308	COL17A1	Oral mucosal blisters	HP:0200097
1308	COL17A1	Photophobia	HP:0000613
1308	COL17A1	Growth delay	HP:0001510
1308	COL17A1	Abnormality of skin pigmentation	HP:0001000
1308	COL17A1	Anemia	HP:0001903
1308	COL17A1	Palmoplantar hyperhidrosis	HP:0007410
1308	COL17A1	Atrophic scars	HP:0001075
1308	COL17A1	Pain	HP:0012531
1308	COL17A1	Nail dysplasia	HP:0002164
1308	COL17A1	Sparse body hair	HP:0002231
1308	COL17A1	Visual impairment	HP:0000505
25885	POLR1A	Choanal atresia	HP:0000453
25885	POLR1A	Autosomal dominant inheritance	HP:0000006
25885	POLR1A	Hypoplasia of the maxilla	HP:0000327
25885	POLR1A	Abnormal cardiac septum morphology	HP:0001671
25885	POLR1A	Short palpebral fissure	HP:0012745
25885	POLR1A	Macrotia	HP:0000400
25885	POLR1A	Retrognathia	HP:0000278
25885	POLR1A	Bilateral choanal atresia	HP:0004502
25885	POLR1A	Midface retrusion	HP:0011800
25885	POLR1A	Micrognathia	HP:0000347
25885	POLR1A	Short stature	HP:0004322
25885	POLR1A	Anotia	HP:0009892
25885	POLR1A	Femoral bowing	HP:0002980
25885	POLR1A	Decreased body weight	HP:0004325
25885	POLR1A	Acetabular dysplasia	HP:0008807
25885	POLR1A	Microtia	HP:0008551
25885	POLR1A	Prominent nasal bridge	HP:0000426
25885	POLR1A	Patent ductus arteriosus	HP:0001643
25885	POLR1A	Downslanted palpebral fissures	HP:0000494
25885	POLR1A	Abnormal palate morphology	HP:0000174
25885	POLR1A	Cleft palate	HP:0000175
25885	POLR1A	Wide nasal bridge	HP:0000431
25885	POLR1A	Abnormality of vision	HP:0000504
25885	POLR1A	Microcephaly	HP:0000252
25885	POLR1A	Hypertelorism	HP:0000316
25885	POLR1A	Short nose	HP:0003196
25886	POC1A	Small nail	HP:0001792
25886	POC1A	Macrocephaly	HP:0000256
25886	POC1A	Prominent nose	HP:0000448
25886	POC1A	Short metacarpal	HP:0010049
25886	POC1A	Short femoral neck	HP:0100864
25886	POC1A	Clinodactyly	HP:0030084
25886	POC1A	Brachydactyly	HP:0001156
25886	POC1A	Triangular face	HP:0000325
25886	POC1A	Sparse hair	HP:0008070
25886	POC1A	Hypoplastic pelvis	HP:0008839
25886	POC1A	Autosomal recessive inheritance	HP:0000007
25886	POC1A	Developmental regression	HP:0002376
25886	POC1A	Generalized hypotonia	HP:0001290
25886	POC1A	Waddling gait	HP:0002515
25886	POC1A	Cone-shaped epiphysis	HP:0010579
25886	POC1A	Prominent forehead	HP:0011220
25886	POC1A	High pitched voice	HP:0001620
25886	POC1A	Long face	HP:0000276
25886	POC1A	Short distal phalanx of finger	HP:0009882
25886	POC1A	Oligospermia	HP:0000798
25886	POC1A	Abnormality of the dentition	HP:0000164
25886	POC1A	Microtia	HP:0008551
25886	POC1A	Deeply set eye	HP:0000490
25886	POC1A	Disproportionate short stature	HP:0003498
25886	POC1A	Small for gestational age	HP:0001518
25886	POC1A	Hypoplastic sacrum	HP:0004590
25886	POC1A	Global developmental delay	HP:0001263
25886	POC1A	Mandibular prognathia	HP:0000303
25886	POC1A	Diabetes mellitus	HP:0000819
25886	POC1A	Breast hypoplasia	HP:0003187
25886	POC1A	Pointed chin	HP:0000307
25886	POC1A	Nail dysplasia	HP:0002164
25886	POC1A	Small hand	HP:0200055
25886	POC1A	Short metatarsal	HP:0010743
25886	POC1A	Clitoral hypoplasia	HP:0000060
25886	POC1A	Hypertelorism	HP:0000316
25886	POC1A	Microcephaly	HP:0000252
1311	COMP	Genu recurvatum	HP:0002816
1311	COMP	Short femoral neck	HP:0100864
1311	COMP	Brachydactyly	HP:0001156
1311	COMP	Autosomal dominant inheritance	HP:0000006
1311	COMP	Gait disturbance	HP:0001288
1311	COMP	Hip osteoarthritis	HP:0008843
1311	COMP	Irregular carpal bones	HP:0004236
1311	COMP	Arthralgia	HP:0002829
1311	COMP	Childhood onset short-limb short stature	HP:0011405
1311	COMP	Ulnar deviation of the hand	HP:0009487
1311	COMP	Heterogeneous	HP:0001425
1311	COMP	Flared femoral metaphysis	HP:0002834
1311	COMP	Spatulate ribs	HP:0012307
1311	COMP	Limited hip extension	HP:0003093
1311	COMP	Genu varum	HP:0002970
1311	COMP	Short distal phalanx of finger	HP:0009882
1311	COMP	Broad femoral neck	HP:0006429
1311	COMP	Platyspondyly	HP:0000926
1311	COMP	Cervical cord compression	HP:0002341
1311	COMP	Hamartomatous polyposis	HP:0004390
1311	COMP	Micromelia	HP:0002983
1311	COMP	Genu valgum	HP:0002857
1311	COMP	Disproportionate short-limb short stature	HP:0008873
1311	COMP	Abnormality of epiphysis morphology	HP:0005930
1311	COMP	Mild short stature	HP:0003502
1311	COMP	Abnormality of the metaphysis	HP:0000944
1311	COMP	Radial metaphyseal irregularity	HP:0004019
1311	COMP	Severe short stature	HP:0003510
1311	COMP	Short palm	HP:0004279
1311	COMP	Joint hyperflexibility	HP:0005692
1311	COMP	Delayed skeletal maturation	HP:0002750
1311	COMP	Short metacarpal	HP:0010049
1311	COMP	Limited shoulder movement	HP:0006467
1311	COMP	Osteoarthritis	HP:0002758
1311	COMP	Fragmented, irregular epiphyses	HP:0005063
1311	COMP	Abnormality of the hip bone	HP:0003272
1311	COMP	Generalized joint laxity	HP:0002761
1311	COMP	Fragmented epiphyses	HP:0100168
1311	COMP	Ulnar metaphyseal irregularity	HP:0004042
1311	COMP	Short phalanx of finger	HP:0009803
1311	COMP	Intestinal polyposis	HP:0200008
1311	COMP	Short long bone	HP:0003026
1311	COMP	Waddling gait	HP:0002515
1311	COMP	Irregular epiphyses	HP:0010582
1311	COMP	Atlantoaxial dislocation	HP:0003414
1311	COMP	Beaking of vertebral bodies	HP:0004568
1311	COMP	Small epiphyses	HP:0010585
1311	COMP	Scoliosis	HP:0002650
1311	COMP	Carpal bone hypoplasia	HP:0001498
1311	COMP	Joint dislocation	HP:0001373
1311	COMP	Epiphyseal dysplasia	HP:0002656
1311	COMP	Limitation of joint mobility	HP:0001376
1311	COMP	Limited hip movement	HP:0008800
1311	COMP	Limited elbow extension	HP:0001377
1311	COMP	Ovoid vertebral bodies	HP:0003300
1311	COMP	Irregular vertebral endplates	HP:0003301
1311	COMP	Delayed epiphyseal ossification	HP:0002663
1311	COMP	Hip dysplasia	HP:0001385
1311	COMP	Ulnar deviation of the wrist	HP:0003049
1311	COMP	Joint stiffness	HP:0001387
1311	COMP	Hyperlordosis	HP:0003307
1311	COMP	Joint laxity	HP:0001388
1311	COMP	Short foot	HP:0001773
1311	COMP	Avascular necrosis of the capital femoral epiphysis	HP:0005743
1311	COMP	Hypoplasia of the odontoid process	HP:0003311
1311	COMP	Kyphosis	HP:0002808
1311	COMP	Lumbar hyperlordosis	HP:0002938
1311	COMP	Sensory neuropathy	HP:0000763
1311	COMP	Small epiphyses of the phalanges of the hand	HP:0010236
1312	COMT	Umbilical hernia	HP:0001537
1312	COMT	Tetany	HP:0001281
1312	COMT	Intestinal malrotation	HP:0002566
1312	COMT	Turricephaly	HP:0000262
1312	COMT	Cataract	HP:0000518
1312	COMT	Hypoplasia of the thymus	HP:0000778
1312	COMT	Abnormal aortic arch morphology	HP:0012303
1312	COMT	Malar flattening	HP:0000272
1312	COMT	Long face	HP:0000276
1312	COMT	Inguinal hernia	HP:0000023
1312	COMT	Polyhydramnios	HP:0001561
1312	COMT	Seborrheic dermatitis	HP:0001051
1312	COMT	Cryptorchidism	HP:0000028
1312	COMT	Hypopigmented skin patches	HP:0001053
1312	COMT	Epicanthus	HP:0000286
1312	COMT	Acne	HP:0001061
1312	COMT	Foot polydactyly	HP:0001829
1312	COMT	Hypospadias	HP:0000047
1312	COMT	Bowel incontinence	HP:0002607
1312	COMT	Specific learning disability	HP:0001328
1312	COMT	Asthma	HP:0002099
1312	COMT	Dysphasia	HP:0002357
1312	COMT	Hypothyroidism	HP:0000821
1312	COMT	Abnormal lung lobation	HP:0002101
1312	COMT	Microphthalmia	HP:0000568
1312	COMT	Cholelithiasis	HP:0001081
1312	COMT	Varicose veins	HP:0002619
1312	COMT	Impaired T cell function	HP:0005435
1312	COMT	Multiple suture craniosynostosis	HP:0011324
1312	COMT	Joint hyperflexibility	HP:0005692
1312	COMT	Hypertelorism	HP:0000316
1312	COMT	Hypoparathyroidism	HP:0000829
1312	COMT	Laryngomalacia	HP:0001601
1312	COMT	Short philtrum	HP:0000322
1312	COMT	Hyperthyroidism	HP:0000836
1312	COMT	Upslanted palpebral fissure	HP:0000582
1312	COMT	Nasal speech	HP:0001611
1312	COMT	Vesicoureteral reflux	HP:0000076
1312	COMT	Thrombocytopenia	HP:0001873
1312	COMT	Hypocalcemia	HP:0002901
1312	COMT	Long philtrum	HP:0000343
1312	COMT	Abnormality of the pharynx	HP:0000600
1312	COMT	Renal hypoplasia	HP:0000089
1312	COMT	Arthritis	HP:0001369
1312	COMT	Scoliosis	HP:0002650
1312	COMT	Micrognathia	HP:0000347
1312	COMT	Arrhinencephaly	HP:0002139
1312	COMT	Ventricular septal defect	HP:0001629
1312	COMT	Atrial septal defect	HP:0001631
1312	COMT	Tetralogy of Fallot	HP:0001636
1312	COMT	Occipital myelomeningocele	HP:0007271
1312	COMT	Abnormal pulmonary valve morphology	HP:0001641
1312	COMT	Attention deficit hyperactivity disorder	HP:0007018
1312	COMT	Patent ductus arteriosus	HP:0001643
1312	COMT	Chronic obstructive pulmonary disease	HP:0006510
1312	COMT	Abnormal aortic valve morphology	HP:0001646
1312	COMT	Retinal arteriolar tortuosity	HP:0001136
1312	COMT	Polycystic kidney dysplasia	HP:0000113
1312	COMT	Low-set ears	HP:0000369
1312	COMT	Posterior embryotoxon	HP:0000627
1312	COMT	Truncus arteriosus	HP:0001660
1312	COMT	Hypertensive crisis	HP:0100735
1312	COMT	Small earlobe	HP:0000385
1312	COMT	Abnormality of the uterus	HP:0000130
1312	COMT	Platybasia	HP:0002691
1312	COMT	Chronic otitis media	HP:0000389
1312	COMT	Bipolar affective disorder	HP:0007302
1312	COMT	Optic atrophy	HP:0000648
1312	COMT	Hand polydactyly	HP:0001161
1312	COMT	Overfolded helix	HP:0000396
1312	COMT	Arachnodactyly	HP:0001166
1312	COMT	Tricuspid atresia	HP:0011662
1312	COMT	Atelectasis	HP:0100750
1312	COMT	Schizophrenia	HP:0100753
1312	COMT	Autoimmunity	HP:0002960
1312	COMT	Conductive hearing impairment	HP:0000405
1312	COMT	Abnormality of the tonsils	HP:0100765
1312	COMT	Carious teeth	HP:0000670
1312	COMT	Bulbous nose	HP:0000414
1312	COMT	Narrow mouth	HP:0000160
1312	COMT	Immunodeficiency	HP:0002721
1312	COMT	Feeding difficulties in infancy	HP:0008872
1312	COMT	Prominent nasal bridge	HP:0000426
1312	COMT	Abnormality of dental enamel	HP:0000682
1312	COMT	Wide nasal bridge	HP:0000431
1312	COMT	Cleft palate	HP:0000175
1312	COMT	Patellar dislocation	HP:0002999
1312	COMT	Multiple renal cysts	HP:0005562
1312	COMT	Gastrointestinal hemorrhage	HP:0002239
1312	COMT	Choanal atresia	HP:0000453
1312	COMT	Aganglionic megacolon	HP:0002251
1312	COMT	Depressivity	HP:0000716
1312	COMT	Autism	HP:0000717
1312	COMT	Splenomegaly	HP:0001744
1312	COMT	Purpura	HP:0000979
1312	COMT	Short neck	HP:0000470
1312	COMT	Short stature	HP:0004322
1312	COMT	Seizures	HP:0001250
1312	COMT	Talipes equinovarus	HP:0001762
1312	COMT	Constipation	HP:0002019
1312	COMT	Anxiety	HP:0000739
1312	COMT	Failure to thrive	HP:0001508
1312	COMT	Gastroesophageal reflux	HP:0002020
1312	COMT	Muscular hypotonia	HP:0001252
1312	COMT	Strabismus	HP:0000486
1312	COMT	Anal atresia	HP:0002023
1312	COMT	Intrauterine growth retardation	HP:0001511
1312	COMT	Corneal neovascularization	HP:0011496
1312	COMT	Intellectual disability, mild	HP:0001256
1312	COMT	Obesity	HP:0001513
1312	COMT	Hydrocephalus	HP:0000238
1312	COMT	Downslanted palpebral fissures	HP:0000494
1312	COMT	Global developmental delay	HP:0001263
1312	COMT	Glaucoma	HP:0000501
1312	COMT	Telecanthus	HP:0000506
1312	COMT	Ptosis	HP:0000508
1312	COMT	Microcephaly	HP:0000252
1312	COMT	Abnormality of the thorax	HP:0000765
1312	COMT	Myalgia	HP:0003326
1316	KLF6	Somatic mutation	HP:0001428
1316	KLF6	Increased level of L-fucose in urine	HP:0410067
1316	KLF6	Autosomal dominant inheritance	HP:0000006
1316	KLF6	Prostate cancer	HP:0012125
1316	KLF6	Stomach cancer	HP:0012126
9508	ADAMTS3	Ascites	HP:0001541
9508	ADAMTS3	Narrow chest	HP:0000774
9508	ADAMTS3	Camptodactyly of finger	HP:0100490
9508	ADAMTS3	Conductive hearing impairment	HP:0000405
9508	ADAMTS3	Pachygyria	HP:0001302
9508	ADAMTS3	Retrognathia	HP:0000278
9508	ADAMTS3	Facial edema	HP:0000282
9508	ADAMTS3	Lymphadenopathy	HP:0002716
9508	ADAMTS3	Lymphangioma	HP:0100764
9508	ADAMTS3	Recurrent respiratory infections	HP:0002205
9508	ADAMTS3	Epicanthus	HP:0000286
9508	ADAMTS3	Erysipelas	HP:0001055
9508	ADAMTS3	Depressed nasal bridge	HP:0005280
9508	ADAMTS3	Narrow mouth	HP:0000160
9508	ADAMTS3	Pericardial effusion	HP:0001698
9508	ADAMTS3	Sparse axillary hair	HP:0002215
9508	ADAMTS3	Delayed eruption of teeth	HP:0000684
9508	ADAMTS3	Respiratory insufficiency	HP:0002093
9508	ADAMTS3	Wide nasal bridge	HP:0000431
9508	ADAMTS3	Arteriovenous malformation	HP:0100026
9508	ADAMTS3	Hypertelorism	HP:0000316
9508	ADAMTS3	Increased number of teeth	HP:0011069
9508	ADAMTS3	Short philtrum	HP:0000322
9508	ADAMTS3	Chylothorax	HP:0010310
9508	ADAMTS3	Upslanted palpebral fissure	HP:0000582
9508	ADAMTS3	Reduced number of teeth	HP:0009804
9508	ADAMTS3	Anteverted nares	HP:0000463
9508	ADAMTS3	Flat face	HP:0012368
9508	ADAMTS3	Splenomegaly	HP:0001744
9508	ADAMTS3	Broad forehead	HP:0000337
9508	ADAMTS3	Abnormality of dental morphology	HP:0006482
9508	ADAMTS3	Craniosynostosis	HP:0001363
9508	ADAMTS3	Gingival overgrowth	HP:0000212
9508	ADAMTS3	Hypocalcemia	HP:0002901
9508	ADAMTS3	Finger syndactyly	HP:0006101
9508	ADAMTS3	Horseshoe kidney	HP:0000085
9508	ADAMTS3	Ectopic kidney	HP:0000086
9508	ADAMTS3	Decreased antibody level in blood	HP:0004313
9508	ADAMTS3	Abnormality of the foot	HP:0001760
9508	ADAMTS3	Lymphopenia	HP:0001888
9508	ADAMTS3	Intellectual disability	HP:0001249
9508	ADAMTS3	Seizures	HP:0001250
9508	ADAMTS3	Benign neoplasm of the central nervous system	HP:0100835
9508	ADAMTS3	Pyloric stenosis	HP:0002021
9508	ADAMTS3	Malabsorption	HP:0002024
9508	ADAMTS3	Lymphedema	HP:0001004
9508	ADAMTS3	Low-set ears	HP:0000369
9508	ADAMTS3	Glaucoma	HP:0000501
9508	ADAMTS3	Pulmonary lymphangiectasia	HP:0006521
9508	ADAMTS3	Mild postnatal growth retardation	HP:0001530
9508	ADAMTS3	External ear malformation	HP:0008572
9508	ADAMTS3	Hydrops fetalis	HP:0001789
9509	ADAMTS2	Umbilical hernia	HP:0001537
9509	ADAMTS2	Soft, doughy skin	HP:0001027
9509	ADAMTS2	Wide anterior fontanel	HP:0000260
9509	ADAMTS2	Fragile skin	HP:0001030
9509	ADAMTS2	Autosomal recessive inheritance	HP:0000007
9509	ADAMTS2	Hip dislocation	HP:0002827
9509	ADAMTS2	Spontaneous neonatal pneumothorax	HP:0004876
9509	ADAMTS2	Retrognathia	HP:0000278
9509	ADAMTS2	Inguinal hernia	HP:0000023
9509	ADAMTS2	Esophagitis	HP:0100633
9509	ADAMTS2	Hypodontia	HP:0000668
9509	ADAMTS2	Frontal open bite	HP:0200094
9509	ADAMTS2	Epicanthus	HP:0000286
9509	ADAMTS2	Depressed nasal bridge	HP:0005280
9509	ADAMTS2	Myopia	HP:0000545
9509	ADAMTS2	Echolalia	HP:0010529
9509	ADAMTS2	Short toe	HP:0001831
9509	ADAMTS2	Micromelia	HP:0002983
9509	ADAMTS2	Osteopenia	HP:0000938
9509	ADAMTS2	Osteoporosis	HP:0000939
9509	ADAMTS2	Redundant skin	HP:0001582
9509	ADAMTS2	Dysphasia	HP:0002357
9509	ADAMTS2	Severe short stature	HP:0003510
9509	ADAMTS2	Thick vermilion border	HP:0012471
9509	ADAMTS2	Rickets	HP:0002748
9509	ADAMTS2	Femoral hernia	HP:0100541
9509	ADAMTS2	Joint hyperflexibility	HP:0005692
9509	ADAMTS2	Osteomalacia	HP:0002749
9509	ADAMTS2	Prolonged bleeding time	HP:0003010
9509	ADAMTS2	Thin skin	HP:0000963
9509	ADAMTS2	Delayed closure of the anterior fontanelle	HP:0001476
9509	ADAMTS2	Abnormality of primary molar morphology	HP:0006344
9509	ADAMTS2	Short phalanx of finger	HP:0009803
9509	ADAMTS2	Aphasia	HP:0002381
9509	ADAMTS2	Hyperextensible skin	HP:0000974
9509	ADAMTS2	Blue sclerae	HP:0000592
9509	ADAMTS2	Bruising susceptibility	HP:0000978
9509	ADAMTS2	Gingival overgrowth	HP:0000212
9509	ADAMTS2	Recurrent mandibular subluxations	HP:0005332
9509	ADAMTS2	Premature birth	HP:0001622
9509	ADAMTS2	Scoliosis	HP:0002650
9509	ADAMTS2	Scarring	HP:0100699
9509	ADAMTS2	Micrognathia	HP:0000347
9509	ADAMTS2	Gingival hyperkeratosis	HP:0000222
9509	ADAMTS2	Excessive wrinkled skin	HP:0007392
9509	ADAMTS2	Gingival bleeding	HP:0000225
9509	ADAMTS2	Limb undergrowth	HP:0009826
9509	ADAMTS2	Short stature	HP:0004322
9509	ADAMTS2	Muscular hypotonia	HP:0001252
9509	ADAMTS2	Gastroesophageal reflux	HP:0002020
9509	ADAMTS2	Everted lower lip vermilion	HP:0000232
9509	ADAMTS2	Hip dysplasia	HP:0001385
9509	ADAMTS2	Abnormality of subcutaneous fat tissue	HP:0001001
9509	ADAMTS2	Joint stiffness	HP:0001387
9509	ADAMTS2	Joint laxity	HP:0001388
9509	ADAMTS2	Downslanted palpebral fissures	HP:0000494
9509	ADAMTS2	Hirsutism	HP:0001007
9509	ADAMTS2	Avascular necrosis of the capital femoral epiphysis	HP:0005743
9509	ADAMTS2	Coxa valga	HP:0002673
9509	ADAMTS2	Hiatus hernia	HP:0002036
9509	ADAMTS2	Motor delay	HP:0001270
9509	ADAMTS2	Premature rupture of membranes	HP:0001788
9509	ADAMTS2	Coxa vara	HP:0002812
9509	ADAMTS2	Mutism	HP:0002300
9509	ADAMTS2	Blepharochalasis	HP:0010749
25894	PLEKHG4	Ataxia	HP:0001251
25894	PLEKHG4	Gait disturbance	HP:0001288
25894	PLEKHG4	Motor axonal neuropathy	HP:0007002
25894	PLEKHG4	Dysarthria	HP:0001260
25894	PLEKHG4	Motor deterioration	HP:0002333
25894	PLEKHG4	Absent Achilles reflex	HP:0003438
25894	PLEKHG4	Sensory axonal neuropathy	HP:0003390
25894	PLEKHG4	Impaired tactile sensation	HP:0010830
25894	PLEKHG4	Impaired proprioception	HP:0010831
25894	PLEKHG4	Impaired vibratory sensation	HP:0002495
9512	PMPCB	Absent speech	HP:0001344
9512	PMPCB	Intellectual disability	HP:0001249
9512	PMPCB	Seizures	HP:0001250
9512	PMPCB	Epileptic encephalopathy	HP:0200134
9512	PMPCB	Increased serum lactate	HP:0002151
9512	PMPCB	Developmental regression	HP:0002376
9512	PMPCB	Spasticity	HP:0001257
9512	PMPCB	Postnatal microcephaly	HP:0005484
9512	PMPCB	Global developmental delay	HP:0001263
9512	PMPCB	Leukoencephalopathy	HP:0002352
9512	PMPCB	Dystonia	HP:0001332
9512	PMPCB	Poor head control	HP:0002421
9512	PMPCB	Cerebellar atrophy	HP:0001272
9512	PMPCB	Visual loss	HP:0000572
9512	PMPCB	Progressive	HP:0003676
9512	PMPCB	Dysmetria	HP:0001310
9512	PMPCB	Optic disc pallor	HP:0000543
9516	LITAF	Pes cavus	HP:0001761
9516	LITAF	Hyporeflexia	HP:0001265
9516	LITAF	Heterogeneous	HP:0001425
9516	LITAF	Juvenile onset	HP:0003621
9516	LITAF	Autosomal dominant inheritance	HP:0000006
9516	LITAF	Hypertrophic nerve changes	HP:0003382
9516	LITAF	Decreased motor nerve conduction velocity	HP:0003431
9516	LITAF	Onion bulb formation	HP:0003383
9516	LITAF	Distal sensory impairment	HP:0002936
9516	LITAF	Segmental peripheral demyelination/remyelination	HP:0003481
9516	LITAF	Distal muscle weakness	HP:0002460
9516	LITAF	Distal amyotrophy	HP:0003693
9517	SPTLC2	Abnormality of the foot	HP:0001760
9517	SPTLC2	Osteomyelitis	HP:0002754
9517	SPTLC2	Autoamputation	HP:0001218
9517	SPTLC2	Sensorimotor neuropathy	HP:0007141
9517	SPTLC2	Autosomal dominant inheritance	HP:0000006
9517	SPTLC2	Dysesthesia	HP:0012534
9517	SPTLC2	Distal sensory loss of all modalities	HP:0006984
9517	SPTLC2	Distal sensory impairment	HP:0002936
9517	SPTLC2	Skin ulcer	HP:0200042
9517	SPTLC2	Anhidrosis	HP:0000970
9517	SPTLC2	Distal muscle weakness	HP:0002460
1326	MAP3K8	Somatic mutation	HP:0001428
1326	MAP3K8	Autosomal dominant inheritance	HP:0000006
1326	MAP3K8	Alveolar cell carcinoma	HP:0006519
1326	MAP3K8	Autosomal recessive inheritance	HP:0000007
50484	RRM2B	Cataract	HP:0000518
50484	RRM2B	Autosomal dominant inheritance	HP:0000006
50484	RRM2B	Autosomal recessive inheritance	HP:0000007
50484	RRM2B	Generalized hypotonia	HP:0001290
50484	RRM2B	Progressive intervertebral space narrowing	HP:0004622
50484	RRM2B	Nocturia	HP:0000017
50484	RRM2B	Gait ataxia	HP:0002066
50484	RRM2B	Resting tremor	HP:0002322
50484	RRM2B	Gastroparesis	HP:0002578
50484	RRM2B	Bradykinesia	HP:0002067
50484	RRM2B	Hyperalaninemia	HP:0003348
50484	RRM2B	Hemiplegia/hemiparesis	HP:0004374
50484	RRM2B	Abnormality of retinal pigmentation	HP:0007703
50484	RRM2B	Aminoaciduria	HP:0003355
50484	RRM2B	Migraine	HP:0002076
50484	RRM2B	Abnormal atrioventricular conduction	HP:0005150
50484	RRM2B	External ophthalmoplegia	HP:0000544
50484	RRM2B	Reduced tendon reflexes	HP:0001315
50484	RRM2B	Progressive neurologic deterioration	HP:0002344
50484	RRM2B	Hypogonadotrophic hypogonadism	HP:0000044
50484	RRM2B	Poor appetite	HP:0004396
50484	RRM2B	Loss of ability to walk	HP:0006957
50484	RRM2B	Respiratory insufficiency	HP:0002093
50484	RRM2B	Hypergonadotropic hypogonadism	HP:0000815
50484	RRM2B	Leukoencephalopathy	HP:0002352
50484	RRM2B	Small intestinal dysmotility	HP:0012850
50484	RRM2B	Diabetes mellitus	HP:0000819
50484	RRM2B	Esotropia	HP:0000565
50484	RRM2B	Hypothyroidism	HP:0000821
50484	RRM2B	Frequent falls	HP:0002359
50484	RRM2B	Lactic acidosis	HP:0003128
50484	RRM2B	Psychomotor deterioration	HP:0002361
50484	RRM2B	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
50484	RRM2B	Exertional dyspnea	HP:0002875
50484	RRM2B	Easy fatigability	HP:0003388
50484	RRM2B	Abnormality of the spinocerebellar tracts	HP:0003133
50484	RRM2B	Atrophic muscularis propria	HP:0025149
50484	RRM2B	Anterior hypopituitarism	HP:0000830
50484	RRM2B	Muscle spasm	HP:0003394
50484	RRM2B	Foot dorsiflexor weakness	HP:0009027
50484	RRM2B	Pigmentary retinopathy	HP:0000580
50484	RRM2B	Hyperthyroidism	HP:0000836
50484	RRM2B	Facial diplegia	HP:0001349
50484	RRM2B	Abnormality of the mitochondrion	HP:0012103
50484	RRM2B	Hypokinesia	HP:0002375
50484	RRM2B	Paresthesia	HP:0003401
50484	RRM2B	Progressive external ophthalmoplegia	HP:0000590
50484	RRM2B	Hypomimic face	HP:0000338
50484	RRM2B	Goiter	HP:0000853
50484	RRM2B	Abnormal pyramidal sign	HP:0007256
50484	RRM2B	Scoliosis	HP:0002650
50484	RRM2B	Fatigue	HP:0012378
50484	RRM2B	Progressive	HP:0003676
50484	RRM2B	Cogwheel rigidity	HP:0002396
50484	RRM2B	Gait imbalance	HP:0002141
50484	RRM2B	Elevated hepatic transaminase	HP:0002910
50484	RRM2B	Cerebral visual impairment	HP:0100704
50484	RRM2B	Limb dysmetria	HP:0002406
50484	RRM2B	Cardiomyopathy	HP:0001638
50484	RRM2B	Decreased motor nerve conduction velocity	HP:0003431
50484	RRM2B	Increased serum lactate	HP:0002151
50484	RRM2B	Cytochrome C oxidase-negative muscle fibers	HP:0003688
50484	RRM2B	Multiple mitochondrial DNA deletions	HP:0003689
50484	RRM2B	Limb muscle weakness	HP:0003690
50484	RRM2B	Increased CSF protein	HP:0002922
50484	RRM2B	Dilated cardiomyopathy	HP:0001644
50484	RRM2B	Hearing impairment	HP:0000365
50484	RRM2B	Absent Achilles reflex	HP:0003438
50484	RRM2B	Weakness of facial musculature	HP:0030319
50484	RRM2B	Anemia	HP:0001903
50484	RRM2B	Abnormality of the extraocular muscles	HP:0008049
50484	RRM2B	Proximal tubulopathy	HP:0000114
50484	RRM2B	Cirrhosis	HP:0001394
50484	RRM2B	Abnormal cell morphology	HP:0025461
50484	RRM2B	Decreased sensory nerve conduction velocity	HP:0003448
50484	RRM2B	Reduced ejection fraction	HP:0012664
50484	RRM2B	Macrovesicular hepatic steatosis	HP:0001403
50484	RRM2B	Myopathy	HP:0003198
50484	RRM2B	Decreased muscle mass	HP:0003199
50484	RRM2B	Ragged-red muscle fibers	HP:0003200
50484	RRM2B	EMG abnormality	HP:0003457
50484	RRM2B	Skeletal muscle atrophy	HP:0003202
50484	RRM2B	EMG: myopathic abnormalities	HP:0003458
50484	RRM2B	Focal white matter lesions	HP:0007042
50484	RRM2B	Abnormality of the hand	HP:0001155
50484	RRM2B	Bipolar affective disorder	HP:0007302
50484	RRM2B	Neck flexor weakness	HP:0003722
50484	RRM2B	Quadriceps muscle weakness	HP:0003731
50484	RRM2B	Peripheral axonal neuropathy	HP:0003477
50484	RRM2B	Sensorineural hearing impairment	HP:0000407
50484	RRM2B	Mitochondrial myopathy	HP:0003737
50484	RRM2B	Exercise-induced myalgia	HP:0003738
50484	RRM2B	Ketosis	HP:0001946
50484	RRM2B	Distal muscle weakness	HP:0002460
50484	RRM2B	Elevated serum creatine kinase	HP:0003236
50484	RRM2B	Increased muscle fatiguability	HP:0003750
50484	RRM2B	Palpitations	HP:0001962
50484	RRM2B	Osteoporosis	HP:0000939
50484	RRM2B	Third degree atrioventricular block	HP:0001709
50484	RRM2B	Left ventricular hypertrophy	HP:0001712
50484	RRM2B	Respiratory insufficiency due to muscle weakness	HP:0002747
50484	RRM2B	Cognitive impairment	HP:0100543
50484	RRM2B	Delayed skeletal maturation	HP:0002750
50484	RRM2B	Feeding difficulties	HP:0011968
50484	RRM2B	Abnormality of the cerebral white matter	HP:0002500
50484	RRM2B	Demyelinating peripheral neuropathy	HP:0007108
50484	RRM2B	Abdominal distention	HP:0003270
50484	RRM2B	Edema	HP:0000969
50484	RRM2B	Depressivity	HP:0000716
50484	RRM2B	Bilateral ptosis	HP:0001488
50484	RRM2B	Ventricular arrhythmia	HP:0004308
50484	RRM2B	Dementia	HP:0000726
50484	RRM2B	Exercise intolerance	HP:0003546
50484	RRM2B	Areflexia of lower limbs	HP:0002522
50484	RRM2B	High palate	HP:0000218
50484	RRM2B	Shoulder girdle muscle weakness	HP:0003547
50484	RRM2B	Vomiting	HP:0002013
50484	RRM2B	Diarrhea	HP:0002014
50484	RRM2B	Difficulty climbing stairs	HP:0003551
50484	RRM2B	Dysphagia	HP:0002015
50484	RRM2B	Intellectual disability	HP:0001249
50484	RRM2B	Seizures	HP:0001250
50484	RRM2B	Nausea	HP:0002018
50484	RRM2B	Constipation	HP:0002019
50484	RRM2B	Anxiety	HP:0000739
50484	RRM2B	Ataxia	HP:0001251
50484	RRM2B	Failure to thrive	HP:0001508
50484	RRM2B	Gastroesophageal reflux	HP:0002020
50484	RRM2B	Muscular hypotonia	HP:0001252
50484	RRM2B	Sensorimotor neuropathy	HP:0007141
50484	RRM2B	Cachexia	HP:0004326
50484	RRM2B	Lethargy	HP:0001254
50484	RRM2B	Abdominal pain	HP:0002027
50484	RRM2B	Dysarthria	HP:0001260
50484	RRM2B	Hyporeflexia	HP:0001265
50484	RRM2B	Fatigable weakness of respiratory muscles	HP:0030196
50484	RRM2B	Deficit in phonologic short-term memory	HP:0002549
50484	RRM2B	Glaucoma	HP:0000501
50484	RRM2B	Atrial fibrillation	HP:0005110
50484	RRM2B	Cerebellar atrophy	HP:0001272
50484	RRM2B	Ptosis	HP:0000508
50484	RRM2B	Hypertonia	HP:0001276
50484	RRM2B	Myalgia	HP:0003326
9524	TECR	Intellectual disability	HP:0001249
9524	TECR	Autosomal recessive inheritance	HP:0000007
9524	TECR	Narrow palate	HP:0000189
9524	TECR	Delayed speech and language development	HP:0000750
50485	SMARCAL1	Disproportionate short-trunk short stature	HP:0003521
50485	SMARCAL1	Protuberant abdomen	HP:0001538
50485	SMARCAL1	Autosomal recessive inheritance	HP:0000007
50485	SMARCAL1	Hypermelanotic macule	HP:0001034
50485	SMARCAL1	Arteriosclerosis	HP:0002634
50485	SMARCAL1	Hip dislocation	HP:0002827
50485	SMARCAL1	Multiple cafe-au-lait spots	HP:0007565
50485	SMARCAL1	Abnormal immunoglobulin level	HP:0010701
50485	SMARCAL1	Opacification of the corneal stroma	HP:0007759
50485	SMARCAL1	Thrombocytopenia	HP:0001873
50485	SMARCAL1	Hypoplasia of the capital femoral epiphysis	HP:0003090
50485	SMARCAL1	Waddling gait	HP:0002515
50485	SMARCAL1	Neutropenia	HP:0001875
50485	SMARCAL1	Renal insufficiency	HP:0000083
50485	SMARCAL1	High pitched voice	HP:0001620
50485	SMARCAL1	Glomerulopathy	HP:0100820
50485	SMARCAL1	Short neck	HP:0000470
50485	SMARCAL1	Transient ischemic attack	HP:0002326
50485	SMARCAL1	Abnormal T cell morphology	HP:0002843
50485	SMARCAL1	Proteinuria	HP:0000093
50485	SMARCAL1	Platyspondyly	HP:0000926
50485	SMARCAL1	Bulbous nose	HP:0000414
50485	SMARCAL1	Recurrent infections	HP:0002719
50485	SMARCAL1	Spondyloepiphyseal dysplasia	HP:0002655
50485	SMARCAL1	Depressed nasal bridge	HP:0005280
50485	SMARCAL1	Lymphopenia	HP:0001888
50485	SMARCAL1	Coarse hair	HP:0002208
50485	SMARCAL1	Focal segmental glomerulosclerosis	HP:0000097
50485	SMARCAL1	Myopia	HP:0000545
50485	SMARCAL1	Melanocytic nevus	HP:0000995
50485	SMARCAL1	Astigmatism	HP:0000483
50485	SMARCAL1	Ovoid vertebral bodies	HP:0003300
50485	SMARCAL1	Nephrotic syndrome	HP:0000100
50485	SMARCAL1	Fine hair	HP:0002213
50485	SMARCAL1	Intrauterine growth retardation	HP:0001511
50485	SMARCAL1	Abnormality of epiphysis morphology	HP:0005930
50485	SMARCAL1	Osteopenia	HP:0000938
50485	SMARCAL1	Hyperlordosis	HP:0003307
50485	SMARCAL1	Increased thyroid-stimulating hormone level	HP:0002925
50485	SMARCAL1	Shallow acetabular fossae	HP:0003182
50485	SMARCAL1	Anemia	HP:0001903
50485	SMARCAL1	Microdontia	HP:0000691
50485	SMARCAL1	Lateral displacement of the femoral head	HP:0006453
50485	SMARCAL1	Hypertension	HP:0000822
50485	SMARCAL1	Motor delay	HP:0001270
50485	SMARCAL1	Lumbar hyperlordosis	HP:0002938
50485	SMARCAL1	Cellular immunodeficiency	HP:0005374
50485	SMARCAL1	Thoracic kyphosis	HP:0002942
9526	MPDU1	Absent speech	HP:0001344
9526	MPDU1	Feeding difficulties	HP:0011968
9526	MPDU1	Seizures	HP:0001250
9526	MPDU1	Hyperkeratosis	HP:0000962
9526	MPDU1	Ataxia	HP:0001251
9526	MPDU1	Muscular hypotonia	HP:0001252
9526	MPDU1	Failure to thrive	HP:0001508
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 vision	HP:0000504
9526	MPDU1	Abnormality of the coagulation cascade	HP:0003256
9526	MPDU1	Congenital onset	HP:0003577
9526	MPDU1	Erythroderma	HP:0001019
9526	MPDU1	Flexion contracture	HP:0001371
9526	MPDU1	Microcephaly	HP:0000252
9526	MPDU1	Hypertonia	HP:0001276
9526	MPDU1	Scaling skin	HP:0040189
9526	MPDU1	Cognitive impairment	HP:0100543
9526	MPDU1	Dry skin	HP:0000958
9526	MPDU1	Nystagmus	HP:0000639
148789	B3GALNT2	Macrocephaly	HP:0000256
148789	B3GALNT2	EMG abnormality	HP:0003457
148789	B3GALNT2	Skeletal muscle atrophy	HP:0003202
148789	B3GALNT2	Meningocele	HP:0002435
148789	B3GALNT2	Areflexia	HP:0001284
148789	B3GALNT2	Cataract	HP:0000518
148789	B3GALNT2	Autosomal recessive inheritance	HP:0000007
148789	B3GALNT2	Gait disturbance	HP:0001288
148789	B3GALNT2	Optic atrophy	HP:0000648
148789	B3GALNT2	Metatarsus valgus	HP:0010508
148789	B3GALNT2	Anophthalmia	HP:0000528
148789	B3GALNT2	Abnormal circulating creatine kinase concentration	HP:0040081
148789	B3GALNT2	Corneal opacity	HP:0007957
148789	B3GALNT2	Hemiplegia/hemiparesis	HP:0004374
148789	B3GALNT2	Pachygyria	HP:0001302
148789	B3GALNT2	Dandy-Walker malformation	HP:0001305
148789	B3GALNT2	Protruding ear	HP:0000411
148789	B3GALNT2	Cryptorchidism	HP:0000028
148789	B3GALNT2	Retinal detachment	HP:0000541
148789	B3GALNT2	Hypoplasia of penis	HP:0008736
148789	B3GALNT2	Myopia	HP:0000545
148789	B3GALNT2	Elevated serum creatine kinase	HP:0003236
148789	B3GALNT2	Retinal dysplasia	HP:0007973
148789	B3GALNT2	Cerebellar hypoplasia	HP:0001321
148789	B3GALNT2	Retinal dystrophy	HP:0000556
148789	B3GALNT2	Muscle weakness	HP:0001324
148789	B3GALNT2	Severe muscular hypotonia	HP:0006829
148789	B3GALNT2	Cerebellar cyst	HP:0002350
148789	B3GALNT2	Specific learning disability	HP:0001328
148789	B3GALNT2	Submucous cleft hard palate	HP:0000176
148789	B3GALNT2	Leukoencephalopathy	HP:0002352
148789	B3GALNT2	EEG abnormality	HP:0002353
148789	B3GALNT2	Absent septum pellucidum	HP:0001331
148789	B3GALNT2	Chorioretinal dysplasia	HP:0007731
148789	B3GALNT2	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
148789	B3GALNT2	Microphthalmia	HP:0000568
148789	B3GALNT2	Macrogyria	HP:0007227
148789	B3GALNT2	Cognitive impairment	HP:0100543
148789	B3GALNT2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
148789	B3GALNT2	Bifid uvula	HP:0000193
148789	B3GALNT2	Abnormality of the voice	HP:0001608
148789	B3GALNT2	Polymicrogyria	HP:0002126
148789	B3GALNT2	Hypoplasia of the pons	HP:0012110
148789	B3GALNT2	Holoprosencephaly	HP:0001360
148789	B3GALNT2	Type II lissencephaly	HP:0007260
148789	B3GALNT2	Intellectual disability	HP:0001249
148789	B3GALNT2	Optic nerve hypoplasia	HP:0000609
148789	B3GALNT2	Seizures	HP:0001250
148789	B3GALNT2	Microcornea	HP:0000482
148789	B3GALNT2	Muscular hypotonia	HP:0001252
148789	B3GALNT2	Iris coloboma	HP:0000612
148789	B3GALNT2	Strabismus	HP:0000486
148789	B3GALNT2	Posteriorly rotated ears	HP:0000358
148789	B3GALNT2	Muscular dystrophy	HP:0003560
148789	B3GALNT2	Blindness	HP:0000618
148789	B3GALNT2	Hydrocephalus	HP:0000238
148789	B3GALNT2	Global developmental delay	HP:0001263
148789	B3GALNT2	Abnormal aldolase level	HP:0012400
148789	B3GALNT2	Abnormal lactate dehydrogenase activity	HP:0045040
148789	B3GALNT2	Low-set ears	HP:0000369
148789	B3GALNT2	Hyporeflexia	HP:0001265
148789	B3GALNT2	Glaucoma	HP:0000501
148789	B3GALNT2	Neurological speech impairment	HP:0002167
148789	B3GALNT2	Visual impairment	HP:0000505
148789	B3GALNT2	Cerebellar dysplasia	HP:0007033
148789	B3GALNT2	Agenesis of corpus callosum	HP:0001274
148789	B3GALNT2	Hypertonia	HP:0001276
148789	B3GALNT2	Microcephaly	HP:0000252
148789	B3GALNT2	Myopathy	HP:0003198
25913	POT1	Neoplasm of the stomach	HP:0006753
25913	POT1	Nevus	HP:0003764
25913	POT1	Abnormality of extrapyramidal motor function	HP:0002071
25913	POT1	Retinopathy	HP:0000488
25913	POT1	Freckling	HP:0001480
25913	POT1	Abnormality of the lymphatic system	HP:0100763
25913	POT1	Abnormal hair morphology	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
1337	COX6A1	Steppage gait	HP:0003376
1337	COX6A1	Pes cavus	HP:0001761
1337	COX6A1	Hyporeflexia	HP:0001265
1337	COX6A1	Foot dorsiflexor weakness	HP:0009027
1337	COX6A1	Areflexia	HP:0001284
1337	COX6A1	Autosomal recessive inheritance	HP:0000007
1337	COX6A1	Onion bulb formation	HP:0003383
1337	COX6A1	Distal sensory impairment	HP:0002936
1337	COX6A1	Slow progression	HP:0003677
25914	RTTN	Seizures	HP:0001250
25914	RTTN	Short stature	HP:0004322
25914	RTTN	Decreased body weight	HP:0004325
25914	RTTN	Intellectual disability, moderate	HP:0002342
25914	RTTN	Autosomal recessive inheritance	HP:0000007
25914	RTTN	Spasticity	HP:0001257
25914	RTTN	Dysarthria	HP:0001260
25914	RTTN	Dysplastic corpus callosum	HP:0006989
25914	RTTN	Delayed speech and language development	HP:0000750
25914	RTTN	Polymicrogyria	HP:0002126
25914	RTTN	EEG abnormality	HP:0002353
25914	RTTN	Abnormal pyramidal sign	HP:0007256
25914	RTTN	Cerebellar atrophy	HP:0001272
25914	RTTN	Agenesis of corpus callosum	HP:0001274
25914	RTTN	Flexion contracture	HP:0001371
25914	RTTN	Lissencephaly	HP:0001339
25914	RTTN	Microcephaly	HP:0000252
9531	BAG3	EMG abnormality	HP:0003457
9531	BAG3	EMG: myopathic abnormalities	HP:0003458
9531	BAG3	Myofibrillar myopathy	HP:0003715
9531	BAG3	Facial palsy	HP:0010628
9531	BAG3	Demyelinating peripheral neuropathy	HP:0007108
9531	BAG3	Diaphragmatic paralysis	HP:0006597
9531	BAG3	Autosomal dominant inheritance	HP:0000006
9531	BAG3	Nasal speech	HP:0001611
9531	BAG3	Abnormality of neutrophils	HP:0001874
9531	BAG3	Palmoplantar keratoderma	HP:0000982
9531	BAG3	Sensorineural hearing impairment	HP:0000407
9531	BAG3	Scoliosis	HP:0002650
9531	BAG3	Rapidly progressive	HP:0003678
9531	BAG3	Pes cavus	HP:0001761
9531	BAG3	Lipoatrophy	HP:0100578
9531	BAG3	Congestive heart failure	HP:0001635
9531	BAG3	Elevated serum creatine kinase	HP:0003236
9531	BAG3	Hypertrophic cardiomyopathy	HP:0001639
9531	BAG3	Muscular dystrophy	HP:0003560
9531	BAG3	Spinal rigidity	HP:0003306
9531	BAG3	Dilated cardiomyopathy	HP:0001644
9531	BAG3	Knee flexion contracture	HP:0006380
9531	BAG3	Respiratory insufficiency	HP:0002093
9531	BAG3	Hyporeflexia	HP:0001265
9531	BAG3	Generalized amyotrophy	HP:0003700
9531	BAG3	Axonal loss	HP:0003447
9531	BAG3	Distal sensory impairment	HP:0002936
9531	BAG3	Easy fatigability	HP:0003388
9531	BAG3	Myopathy	HP:0003198
25915	NDUFAF3	Poor eye contact	HP:0000817
25915	NDUFAF3	Seizures	HP:0001250
25915	NDUFAF3	Death in infancy	HP:0001522
25915	NDUFAF3	Hyperreflexia	HP:0001347
25915	NDUFAF3	Myoclonus	HP:0001336
25915	NDUFAF3	Congenital onset	HP:0003577
25915	NDUFAF3	Abnormal mitochondria in muscle tissue	HP:0008316
25915	NDUFAF3	Respiratory failure	HP:0002878
25915	NDUFAF3	Global developmental delay	HP:0001263
1340	COX6B1	Hepatomegaly	HP:0002240
1340	COX6B1	Decreased liver function	HP:0001410
1340	COX6B1	Pigmentary retinopathy	HP:0000580
1340	COX6B1	Glycosuria	HP:0003076
1340	COX6B1	Autosomal recessive inheritance	HP:0000007
1340	COX6B1	Optic atrophy	HP:0000648
1340	COX6B1	Generalized hypotonia	HP:0001290
1340	COX6B1	Renal Fanconi syndrome	HP:0001994
1340	COX6B1	Increased intramyocellular lipid droplets	HP:0012240
1340	COX6B1	Heterogeneous	HP:0001425
1340	COX6B1	Mitochondrial inheritance	HP:0001427
1340	COX6B1	Sensorineural hearing impairment	HP:0000407
1340	COX6B1	Exercise intolerance	HP:0003546
1340	COX6B1	Aminoaciduria	HP:0003355
1340	COX6B1	Proteinuria	HP:0000093
1340	COX6B1	Intellectual disability	HP:0001249
1340	COX6B1	Seizures	HP:0001250
1340	COX6B1	Ataxia	HP:0001251
1340	COX6B1	Failure to thrive	HP:0001508
1340	COX6B1	Muscular hypotonia	HP:0001252
1340	COX6B1	Increased hepatocellular lipid droplets	HP:0006565
1340	COX6B1	Hyperphosphaturia	HP:0003109
1340	COX6B1	Hypertrophic cardiomyopathy	HP:0001639
1340	COX6B1	Increased serum lactate	HP:0002151
1340	COX6B1	Cytochrome C oxidase-negative muscle fibers	HP:0003688
1340	COX6B1	Global developmental delay	HP:0001263
1340	COX6B1	Anemia	HP:0001903
1340	COX6B1	Leukoencephalopathy	HP:0002352
1340	COX6B1	Respiratory distress	HP:0002098
1340	COX6B1	Motor delay	HP:0001270
1340	COX6B1	Lactic acidosis	HP:0003128
1340	COX6B1	Increased CSF lactate	HP:0002490
1340	COX6B1	Exertional dyspnea	HP:0002875
1340	COX6B1	Respiratory insufficiency due to muscle weakness	HP:0002747
1340	COX6B1	Renal tubular dysfunction	HP:0000124
1340	COX6B1	Ptosis	HP:0000508
9533	POLR1C	Preauricular skin tag	HP:0000384
9533	POLR1C	Blepharospasm	HP:0000643
9533	POLR1C	Cataract	HP:0000518
9533	POLR1C	Autosomal recessive inheritance	HP:0000007
9533	POLR1C	Hypoplasia of the thymus	HP:0000778
9533	POLR1C	Lower eyelid coloboma	HP:0000652
9533	POLR1C	Tracheoesophageal fistula	HP:0002575
9533	POLR1C	Rectovaginal fistula	HP:0000143
9533	POLR1C	Malar flattening	HP:0000272
9533	POLR1C	Conductive hearing impairment	HP:0000405
9533	POLR1C	Retrognathia	HP:0000278
9533	POLR1C	Midface retrusion	HP:0011800
9533	POLR1C	Wide mouth	HP:0000154
9533	POLR1C	Hypodontia	HP:0000668
9533	POLR1C	Cryptorchidism	HP:0000028
9533	POLR1C	Abnormality of the vertebral column	HP:0000925
9533	POLR1C	Hypoplasia of the corpus callosum	HP:0002079
9533	POLR1C	Narrow mouth	HP:0000160
9533	POLR1C	Hypoplasia of penis	HP:0008736
9533	POLR1C	Myopia	HP:0000545
9533	POLR1C	Glossoptosis	HP:0000162
9533	POLR1C	Encephalocele	HP:0002084
9533	POLR1C	Abnormality of the dentition	HP:0000164
9533	POLR1C	Low anterior hairline	HP:0000294
9533	POLR1C	Abnormality of dental enamel	HP:0000682
9533	POLR1C	Hypoplasia of the zygomatic bone	HP:0010669
9533	POLR1C	Respiratory insufficiency	HP:0002093
9533	POLR1C	Scrotal hypoplasia	HP:0000046
9533	POLR1C	Hypergonadotropic hypogonadism	HP:0000815
9533	POLR1C	Wide nasal bridge	HP:0000431
9533	POLR1C	Cleft palate	HP:0000175
9533	POLR1C	Absent eyelashes	HP:0000561
9533	POLR1C	Dysphasia	HP:0002357
9533	POLR1C	Open bite	HP:0010807
9533	POLR1C	Microphthalmia	HP:0000568
9533	POLR1C	Tremor	HP:0001337
9533	POLR1C	Hypertelorism	HP:0000316
9533	POLR1C	Abnormality of the adrenal glands	HP:0000834
9533	POLR1C	Branchial fistula	HP:0009795
9533	POLR1C	Choanal atresia	HP:0000453
9533	POLR1C	Multiple enchondromatosis	HP:0005701
9533	POLR1C	Hypoplasia of the maxilla	HP:0000327
9533	POLR1C	Mandibulofacial dysostosis	HP:0005321
9533	POLR1C	Reduced number of teeth	HP:0009804
9533	POLR1C	Cleft upper lip	HP:0000204
9533	POLR1C	Coloboma	HP:0000589
9533	POLR1C	Abnormality of dental morphology	HP:0006482
9533	POLR1C	Short face	HP:0011219
9533	POLR1C	Facial cleft	HP:0002006
9533	POLR1C	Frontal bossing	HP:0002007
9533	POLR1C	High palate	HP:0000218
9533	POLR1C	Micrognathia	HP:0000347
9533	POLR1C	Skeletal dysplasia	HP:0002652
9533	POLR1C	Intellectual disability	HP:0001249
9533	POLR1C	Ataxia	HP:0001251
9533	POLR1C	Failure to thrive	HP:0001508
9533	POLR1C	Iris coloboma	HP:0000612
9533	POLR1C	CNS hypomyelination	HP:0003429
9533	POLR1C	Thyroid hypoplasia	HP:0005990
9533	POLR1C	Strabismus	HP:0000486
9533	POLR1C	Microtia	HP:0008551
9533	POLR1C	Spasticity	HP:0001257
9533	POLR1C	Patent ductus arteriosus	HP:0001643
9533	POLR1C	Downslanted palpebral fissures	HP:0000494
9533	POLR1C	Global developmental delay	HP:0001263
9533	POLR1C	Leukodystrophy	HP:0002415
9533	POLR1C	Eyelid coloboma	HP:0000625
9533	POLR1C	Brachycephaly	HP:0000248
9533	POLR1C	Cerebellar atrophy	HP:0001272
9533	POLR1C	Visual impairment	HP:0000505
9533	POLR1C	Narrow internal auditory canal	HP:0011386
9533	POLR1C	Abnormality of bone mineral density	HP:0004348
25923	ATL3	Arthropathy	HP:0003040
25923	ATL3	Osteomyelitis	HP:0002754
25923	ATL3	Sensory impairment	HP:0003474
25923	ATL3	Hyperkeratosis	HP:0000962
25923	ATL3	Autosomal dominant inheritance	HP:0000006
25923	ATL3	Hyporeflexia of lower limbs	HP:0002600
25923	ATL3	Osteolytic defects of the phalanges of the hand	HP:0009771
25923	ATL3	Sensory axonal neuropathy	HP:0003390
25923	ATL3	Hallux valgus	HP:0001822
1349	COX7B	Cleft earlobe	HP:0011265
1349	COX7B	Cataract	HP:0000518
1349	COX7B	Congenital diaphragmatic hernia	HP:0000776
1349	COX7B	Anteriorly placed anus	HP:0001545
1349	COX7B	Vitritis	HP:0011531
1349	COX7B	Psychomotor retardation	HP:0025356
1349	COX7B	Hypoplasia of the uterus	HP:0000013
1349	COX7B	Anophthalmia	HP:0000528
1349	COX7B	Abnormality of the fallopian tube	HP:0011027
1349	COX7B	Retrognathia	HP:0000278
1349	COX7B	Abnormality of retinal pigmentation	HP:0007703
1349	COX7B	Midface retrusion	HP:0011800
1349	COX7B	Abnormality of the anus	HP:0004378
1349	COX7B	Hypopigmented skin patches	HP:0001053
1349	COX7B	Erythema	HP:0010783
1349	COX7B	Hypoplasia of the corpus callosum	HP:0002079
1349	COX7B	Optic disc pallor	HP:0000543
1349	COX7B	Histiocytoid cardiomyopathy	HP:0005152
1349	COX7B	Echolalia	HP:0010529
1349	COX7B	Aplasia cutis congenita	HP:0001057
1349	COX7B	Myopia	HP:0000545
1349	COX7B	Abnormal testis morphology	HP:0000035
1349	COX7B	Retinal dysplasia	HP:0007973
1349	COX7B	Male pseudohermaphroditism	HP:0000037
1349	COX7B	Epispadias	HP:0000039
1349	COX7B	Chordee	HP:0000041
1349	COX7B	Retinal dystrophy	HP:0000556
1349	COX7B	Pulmonary arterial hypertension	HP:0002092
1349	COX7B	Hypospadias	HP:0000047
1349	COX7B	Specific learning disability	HP:0001328
1349	COX7B	Respiratory distress	HP:0002098
1349	COX7B	Absent septum pellucidum	HP:0001331
1349	COX7B	Chorioretinal dysplasia	HP:0007731
1349	COX7B	Dysphasia	HP:0002357
1349	COX7B	Micropenis	HP:0000054
1349	COX7B	Microphthalmia	HP:0000568
1349	COX7B	Visual loss	HP:0000572
1349	COX7B	Tricuspid regurgitation	HP:0005180
1349	COX7B	Hypertelorism	HP:0000316
1349	COX7B	Sandal gap	HP:0001852
1349	COX7B	Ovotestis	HP:0012861
1349	COX7B	Abnormality of the nail	HP:0001597
1349	COX7B	Ambiguous genitalia	HP:0000062
1349	COX7B	Respiratory failure	HP:0002878
1349	COX7B	Overriding aorta	HP:0002623
1349	COX7B	Pigmentary retinopathy	HP:0000580
1349	COX7B	Short chin	HP:0000331
1349	COX7B	Aphasia	HP:0002381
1349	COX7B	Status epilepticus	HP:0002133
1349	COX7B	Long philtrum	HP:0000343
1349	COX7B	Micrognathia	HP:0000347
1349	COX7B	High forehead	HP:0000348
1349	COX7B	Ventricular septal defect	HP:0001629
1349	COX7B	Atrial septal defect	HP:0001631
1349	COX7B	Colpocephaly	HP:0030048
1349	COX7B	Mitral valve prolapse	HP:0001634
1349	COX7B	Iris coloboma	HP:0000612
1349	COX7B	Tetralogy of Fallot	HP:0001636
1349	COX7B	Abnormal nasolacrimal system morphology	HP:0000614
1349	COX7B	Posteriorly rotated ears	HP:0000358
1349	COX7B	Hypertrophic cardiomyopathy	HP:0001639
1349	COX7B	Blindness	HP:0000618
1349	COX7B	Dilated cardiomyopathy	HP:0001644
1349	COX7B	Hearing impairment	HP:0000365
1349	COX7B	Posterior embryotoxon	HP:0000627
1349	COX7B	Mitral regurgitation	HP:0001653
1349	COX7B	Short nose	HP:0003196
1349	COX7B	Amblyopia	HP:0000646
1349	COX7B	Sclerocornea	HP:0000647
1349	COX7B	Abnormal cardiac septum morphology	HP:0001671
1349	COX7B	X-linked dominant inheritance	HP:0001423
1349	COX7B	Abnormality of metabolism/homeostasis	HP:0001939
1349	COX7B	Arrhythmia	HP:0011675
1349	COX7B	Delayed myelination	HP:0012448
1349	COX7B	Tricuspid valve prolapse	HP:0001704
1349	COX7B	Abnormality of dental enamel	HP:0000682
1349	COX7B	Wide nasal bridge	HP:0000431
1349	COX7B	Ventricular hypertrophy	HP:0001714
1349	COX7B	Severe short stature	HP:0003510
1349	COX7B	Hyperpigmentation of the skin	HP:0000953
1349	COX7B	Wide nose	HP:0000445
1349	COX7B	Feeding difficulties	HP:0011968
1349	COX7B	Sacral dimple	HP:0000960
1349	COX7B	Functional motor deficit	HP:0004302
1349	COX7B	Abnormal facial shape	HP:0001999
1349	COX7B	Wide intermamillary distance	HP:0006610
1349	COX7B	Mandibular aplasia	HP:0009939
1349	COX7B	Clitoral hypertrophy	HP:0008665
1349	COX7B	Intellectual disability	HP:0001249
1349	COX7B	Short stature	HP:0004322
1349	COX7B	Seizures	HP:0001250
1349	COX7B	Failure to thrive	HP:0001508
1349	COX7B	Asymmetric, linear skin defects	HP:0007398
1349	COX7B	Intellectual disability, progressive	HP:0006887
1349	COX7B	Anal atresia	HP:0002023
1349	COX7B	Hydrocephalus	HP:0000238
1349	COX7B	Dermal atrophy	HP:0004334
1349	COX7B	Global developmental delay	HP:0001263
1349	COX7B	Abnormality of the rectum	HP:0002034
1349	COX7B	Abnormal eyelash morphology	HP:0000499
1349	COX7B	Glaucoma	HP:0000501
1349	COX7B	Highly arched eyebrow	HP:0002553
1349	COX7B	Visual impairment	HP:0000505
1349	COX7B	Agenesis of corpus callosum	HP:0001274
1349	COX7B	Microcephaly	HP:0000252
1349	COX7B	Mutism	HP:0002300
1351	COX8A	Hepatomegaly	HP:0002240
1351	COX8A	Decreased liver function	HP:0001410
1351	COX8A	Pigmentary retinopathy	HP:0000580
1351	COX8A	Glycosuria	HP:0003076
1351	COX8A	Autosomal recessive inheritance	HP:0000007
1351	COX8A	Optic atrophy	HP:0000648
1351	COX8A	Generalized hypotonia	HP:0001290
1351	COX8A	Renal Fanconi syndrome	HP:0001994
1351	COX8A	Increased intramyocellular lipid droplets	HP:0012240
1351	COX8A	Heterogeneous	HP:0001425
1351	COX8A	Mitochondrial inheritance	HP:0001427
1351	COX8A	Sensorineural hearing impairment	HP:0000407
1351	COX8A	Exercise intolerance	HP:0003546
1351	COX8A	Aminoaciduria	HP:0003355
1351	COX8A	Proteinuria	HP:0000093
1351	COX8A	Intellectual disability	HP:0001249
1351	COX8A	Seizures	HP:0001250
1351	COX8A	Ataxia	HP:0001251
1351	COX8A	Failure to thrive	HP:0001508
1351	COX8A	Muscular hypotonia	HP:0001252
1351	COX8A	Increased hepatocellular lipid droplets	HP:0006565
1351	COX8A	Hyperphosphaturia	HP:0003109
1351	COX8A	Hypertrophic cardiomyopathy	HP:0001639
1351	COX8A	Increased serum lactate	HP:0002151
1351	COX8A	Cytochrome C oxidase-negative muscle fibers	HP:0003688
1351	COX8A	Global developmental delay	HP:0001263
1351	COX8A	Anemia	HP:0001903
1351	COX8A	Leukoencephalopathy	HP:0002352
1351	COX8A	Respiratory distress	HP:0002098
1351	COX8A	Motor delay	HP:0001270
1351	COX8A	Lactic acidosis	HP:0003128
1351	COX8A	Increased CSF lactate	HP:0002490
1351	COX8A	Exertional dyspnea	HP:0002875
1351	COX8A	Respiratory insufficiency due to muscle weakness	HP:0002747
1351	COX8A	Renal tubular dysfunction	HP:0000124
1351	COX8A	Ptosis	HP:0000508
1352	COX10	Decreased liver function	HP:0001410
1352	COX10	Glycosuria	HP:0003076
1352	COX10	Autosomal recessive inheritance	HP:0000007
1352	COX10	Optic atrophy	HP:0000648
1352	COX10	Infantile onset	HP:0003593
1352	COX10	CNS demyelination	HP:0007305
1352	COX10	Generalized hypotonia	HP:0001290
1352	COX10	Psychomotor retardation	HP:0025356
1352	COX10	Heterogeneous	HP:0001425
1352	COX10	Mitochondrial inheritance	HP:0001427
1352	COX10	Sensorineural hearing impairment	HP:0000407
1352	COX10	Aminoaciduria	HP:0003355
1352	COX10	Increased hepatocellular lipid droplets	HP:0006565
1352	COX10	Hyperphosphaturia	HP:0003109
1352	COX10	Respiratory insufficiency	HP:0002093
1352	COX10	Leukoencephalopathy	HP:0002352
1352	COX10	Respiratory distress	HP:0002098
1352	COX10	Dystonia	HP:0001332
1352	COX10	Lactic acidosis	HP:0003128
1352	COX10	Increased CSF lactate	HP:0002490
1352	COX10	Exertional dyspnea	HP:0002875
1352	COX10	Respiratory insufficiency due to muscle weakness	HP:0002747
1352	COX10	Respiratory failure	HP:0002878
1352	COX10	Hepatomegaly	HP:0002240
1352	COX10	Hyperreflexia	HP:0001347
1352	COX10	Pigmentary retinopathy	HP:0000580
1352	COX10	Emotional lability	HP:0000712
1352	COX10	Renal Fanconi syndrome	HP:0001994
1352	COX10	Increased intramyocellular lipid droplets	HP:0012240
1352	COX10	Exercise intolerance	HP:0003546
1352	COX10	Ophthalmoplegia	HP:0000602
1352	COX10	Progressive	HP:0003676
1352	COX10	Proteinuria	HP:0000093
1352	COX10	Intellectual disability	HP:0001249
1352	COX10	Seizures	HP:0001250
1352	COX10	Ataxia	HP:0001251
1352	COX10	Failure to thrive	HP:0001508
1352	COX10	Muscular hypotonia	HP:0001252
1352	COX10	Strabismus	HP:0000486
1352	COX10	Hypertrichosis	HP:0000998
1352	COX10	Hypertrophic cardiomyopathy	HP:0001639
1352	COX10	Increased serum lactate	HP:0002151
1352	COX10	Cytochrome C oxidase-negative muscle fibers	HP:0003688
1352	COX10	Abnormal pattern of respiration	HP:0002793
1352	COX10	Spasticity	HP:0001257
1352	COX10	Dysarthria	HP:0001260
1352	COX10	Global developmental delay	HP:0001263
1352	COX10	Anemia	HP:0001903
1352	COX10	Motor delay	HP:0001270
1352	COX10	Gliosis	HP:0002171
1352	COX10	Renal tubular dysfunction	HP:0000124
1352	COX10	Ptosis	HP:0000508
1352	COX10	Hepatocellular necrosis	HP:0001404
1352	COX10	Nystagmus	HP:0000639
50506	DUOX2	Umbilical hernia	HP:0001537
50506	DUOX2	Intellectual disability	HP:0001249
50506	DUOX2	Short stature	HP:0004322
50506	DUOX2	Constipation	HP:0002019
50506	DUOX2	Muscular hypotonia	HP:0001252
50506	DUOX2	Abdominal distention	HP:0003270
50506	DUOX2	Autosomal recessive inheritance	HP:0000007
50506	DUOX2	Increased thyroid-stimulating hormone level	HP:0002925
50506	DUOX2	Large fontanelles	HP:0000239
50506	DUOX2	Global developmental delay	HP:0001263
50506	DUOX2	Decreased T3/T4 ratio	HP:0012560
50506	DUOX2	Congenital hypothyroidism	HP:0000851
50506	DUOX2	Hypersomnia	HP:0100786
50506	DUOX2	Goiter	HP:0000853
50506	DUOX2	Hypothyroidism	HP:0000821
50506	DUOX2	Coarse facial features	HP:0000280
50506	DUOX2	Jaundice	HP:0000952
50506	DUOX2	Fatigue	HP:0012378
50506	DUOX2	Macroglossia	HP:0000158
1355	COX15	Autosomal recessive inheritance	HP:0000007
1355	COX15	Optic atrophy	HP:0000648
1355	COX15	Infantile onset	HP:0003593
1355	COX15	CNS demyelination	HP:0007305
1355	COX15	Generalized hypotonia	HP:0001290
1355	COX15	Decreased activity of mitochondrial respiratory chain	HP:0008972
1355	COX15	Psychomotor retardation	HP:0025356
1355	COX15	Focal T2 hyperintense basal ganglia lesion	HP:0007183
1355	COX15	Heterogeneous	HP:0001425
1355	COX15	Encephalopathy	HP:0001298
1355	COX15	Mitochondrial inheritance	HP:0001427
1355	COX15	Decreased fetal movement	HP:0001558
1355	COX15	Sensorineural hearing impairment	HP:0000407
1355	COX15	Progressive cerebellar ataxia	HP:0002073
1355	COX15	Respiratory insufficiency	HP:0002093
1355	COX15	Dystonia	HP:0001332
1355	COX15	Apnea	HP:0002104
1355	COX15	Lactic acidosis	HP:0003128
1355	COX15	Increased CSF lactate	HP:0002490
1355	COX15	Respiratory failure	HP:0002878
1355	COX15	Hyperreflexia	HP:0001347
1355	COX15	Pigmentary retinopathy	HP:0000580
1355	COX15	Emotional lability	HP:0000712
1355	COX15	Ophthalmoplegia	HP:0000602
1355	COX15	Progressive	HP:0003676
1355	COX15	Ventricular septal defect	HP:0001629
1355	COX15	Intellectual disability	HP:0001249
1355	COX15	Seizures	HP:0001250
1355	COX15	Ataxia	HP:0001251
1355	COX15	Failure to thrive	HP:0001508
1355	COX15	Muscular hypotonia	HP:0001252
1355	COX15	Cardiomyopathy	HP:0001638
1355	COX15	Strabismus	HP:0000486
1355	COX15	Hypertrichosis	HP:0000998
1355	COX15	Peripheral neuropathy	HP:0009830
1355	COX15	Increased serum lactate	HP:0002151
1355	COX15	Hypertrophic cardiomyopathy	HP:0001639
1355	COX15	Abnormal pattern of respiration	HP:0002793
1355	COX15	Spasticity	HP:0001257
1355	COX15	Progressive spastic paraplegia	HP:0007020
1355	COX15	Dysarthria	HP:0001260
1355	COX15	Hearing impairment	HP:0000365
1355	COX15	Anemia	HP:0001903
1355	COX15	Global developmental delay	HP:0001263
1355	COX15	Leukodystrophy	HP:0002415
1355	COX15	Intellectual disability, severe	HP:0010864
1355	COX15	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
1355	COX15	Hepatic steatosis	HP:0001397
1355	COX15	Gliosis	HP:0002171
1355	COX15	Microcephaly	HP:0000252
1355	COX15	Ptosis	HP:0000508
1355	COX15	Hepatocellular necrosis	HP:0001404
1355	COX15	Nystagmus	HP:0000639
1356	CP	Refractory anemia	HP:0005505
1356	CP	Retinal degeneration	HP:0000546
1356	CP	Blepharospasm	HP:0000643
1356	CP	Ataxia	HP:0001251
1356	CP	Congestive heart failure	HP:0001635
1356	CP	Depressivity	HP:0000716
1356	CP	Dysarthria	HP:0001260
1356	CP	Delayed speech and language development	HP:0000750
1356	CP	Elevated hepatic iron concentration	HP:0012465
1356	CP	Increased serum ferritin	HP:0003281
1356	CP	Memory impairment	HP:0002354
1356	CP	Diabetes mellitus	HP:0000819
1356	CP	Parkinsonism	HP:0001300
1356	CP	Hypothyroidism	HP:0000821
1356	CP	Decreased serum ceruloplasmin	HP:0010837
1356	CP	Dementia	HP:0000726
1356	CP	Chorea	HP:0002072
1356	CP	Tremor	HP:0001337
1356	CP	Torticollis	HP:0000473
1356	CP	Hypertonia	HP:0001276
1357	CPA1	Diabetes mellitus	HP:0000819
1357	CPA1	Leukocytosis	HP:0001974
1357	CPA1	Splanchnic vein thrombosis	HP:0030247
1357	CPA1	Jaundice	HP:0000952
1357	CPA1	Recurrent pancreatitis	HP:0100027
1357	CPA1	Elevated C-reactive protein level	HP:0011227
1357	CPA1	Abdominal pain	HP:0002027
1357	CPA1	Abnormal enzyme/coenzyme activity	HP:0012379
1357	CPA1	Pancreatic calcification	HP:0005213
50511	SYCP3	Recurrent spontaneous abortion	HP:0200067
50511	SYCP3	Abnormality of metabolism/homeostasis	HP:0001939
50511	SYCP3	Increased circulating gonadotropin level	HP:0000837
50511	SYCP3	Autosomal dominant inheritance	HP:0000006
50511	SYCP3	Autosomal recessive inheritance	HP:0000007
50511	SYCP3	Non-obstructive azoospermia	HP:0011961
50511	SYCP3	Obstructive azoospermia	HP:0011962
50511	SYCP3	Azoospermia	HP:0000027
50511	SYCP3	Decreased testicular size	HP:0008734
222546	RFX6	Hyperglycemia	HP:0003074
222546	RFX6	Pancreatic hypoplasia	HP:0002594
222546	RFX6	Intestinal malrotation	HP:0002566
222546	RFX6	Annular pancreas	HP:0001734
222546	RFX6	Intrauterine growth retardation	HP:0001511
222546	RFX6	Duodenal atresia	HP:0002247
222546	RFX6	Autosomal recessive inheritance	HP:0000007
222546	RFX6	Malabsorption	HP:0002024
222546	RFX6	Anteriorly placed anus	HP:0001545
222546	RFX6	Absent gallbladder	HP:0011467
222546	RFX6	Acholic stools	HP:0011985
222546	RFX6	Jejunal atresia	HP:0005235
222546	RFX6	Hyperbilirubinemia	HP:0002904
222546	RFX6	Biliary atresia	HP:0005912
222546	RFX6	Diarrhea	HP:0002014
25939	SAMHD1	Autosomal dominant inheritance	HP:0000006
25939	SAMHD1	Myositis	HP:0100614
25939	SAMHD1	Autosomal recessive inheritance	HP:0000007
25939	SAMHD1	Spastic paraparesis	HP:0002313
25939	SAMHD1	Intellectual disability, profound	HP:0002187
25939	SAMHD1	Headache	HP:0002315
25939	SAMHD1	Multifocal cerebral white matter abnormalities	HP:0007052
25939	SAMHD1	Multiple joint contractures	HP:0002828
25939	SAMHD1	Autoimmunity	HP:0002960
25939	SAMHD1	Increased serum interferon-gamma level	HP:0030356
25939	SAMHD1	Hemiplegia/hemiparesis	HP:0004374
25939	SAMHD1	Hepatosplenomegaly	HP:0001433
25939	SAMHD1	Deep white matter hypodensities	HP:0007321
25939	SAMHD1	Brain atrophy	HP:0012444
25939	SAMHD1	Hypoplasia of the corpus callosum	HP:0002079
25939	SAMHD1	Raynaud phenomenon	HP:0030880
25939	SAMHD1	Unexplained fevers	HP:0001955
25939	SAMHD1	Extrapyramidal muscular rigidity	HP:0007076
25939	SAMHD1	Acrocyanosis	HP:0001063
25939	SAMHD1	Feeding difficulties in infancy	HP:0008872
25939	SAMHD1	Chronic lymphatic leukemia	HP:0005550
25939	SAMHD1	Leukoencephalopathy	HP:0002352
25939	SAMHD1	Difficulty walking	HP:0002355
25939	SAMHD1	Prolonged neonatal jaundice	HP:0006579
25939	SAMHD1	Diabetes mellitus	HP:0000819
25939	SAMHD1	Dystonia	HP:0001332
25939	SAMHD1	Hypothyroidism	HP:0000821
25939	SAMHD1	Micropenis	HP:0000054
25939	SAMHD1	Tremor	HP:0001337
25939	SAMHD1	Moyamoya phenomenon	HP:0011834
25939	SAMHD1	Dry skin	HP:0000958
25939	SAMHD1	Developmental glaucoma	HP:0001087
25939	SAMHD1	Loss of speech	HP:0002371
25939	SAMHD1	Demyelinating peripheral neuropathy	HP:0007108
25939	SAMHD1	Cutis marmorata	HP:0000965
25939	SAMHD1	Ventriculomegaly	HP:0002119
25939	SAMHD1	Developmental regression	HP:0002376
25939	SAMHD1	Neonatal alloimmune thrombocytopenia	HP:0004809
25939	SAMHD1	Hoarse voice	HP:0001609
25939	SAMHD1	Vasculitis	HP:0002633
25939	SAMHD1	Edema	HP:0000969
25939	SAMHD1	Panniculitis	HP:0012490
25939	SAMHD1	Degeneration of the striatum	HP:0040140
25939	SAMHD1	Plagiocephaly	HP:0001357
25939	SAMHD1	Aortic aneurysm	HP:0004942
25939	SAMHD1	Spastic tetraplegia	HP:0002510
25939	SAMHD1	Thrombocytopenia	HP:0001873
25939	SAMHD1	Cerebral calcification	HP:0002514
25939	SAMHD1	Porencephalic cyst	HP:0002132
25939	SAMHD1	Enchondroma	HP:0030038
25939	SAMHD1	CSF lymphocytic pleiocytosis	HP:0200149
25939	SAMHD1	Basal ganglia calcification	HP:0002135
25939	SAMHD1	Abnormal pyramidal sign	HP:0007256
25939	SAMHD1	Arthritis	HP:0001369
25939	SAMHD1	Scoliosis	HP:0002650
25939	SAMHD1	Arrhinencephaly	HP:0002139
25939	SAMHD1	Flexion contracture	HP:0001371
25939	SAMHD1	Elevated hepatic transaminase	HP:0002910
25939	SAMHD1	Muscle stiffness	HP:0003552
25939	SAMHD1	Arthropathy	HP:0003040
25939	SAMHD1	Cutaneous photosensitivity	HP:0000992
25939	SAMHD1	Irritability	HP:0000737
25939	SAMHD1	Short stature	HP:0004322
25939	SAMHD1	Seizures	HP:0001250
25939	SAMHD1	Large beaked nose	HP:0003683
25939	SAMHD1	Calcification of the aorta	HP:0004963
25939	SAMHD1	Lipoatrophy	HP:0100578
25939	SAMHD1	Hypertrophic cardiomyopathy	HP:0001639
25939	SAMHD1	Chronic CSF lymphocytosis	HP:0009704
25939	SAMHD1	Cardiomegaly	HP:0001640
25939	SAMHD1	Muscular hypotonia of the trunk	HP:0008936
25939	SAMHD1	Spasticity	HP:0001257
25939	SAMHD1	Increased CSF interferon alpha	HP:0009709
25939	SAMHD1	Chilblains	HP:0009710
25939	SAMHD1	Leukodystrophy	HP:0002415
25939	SAMHD1	Global developmental delay	HP:0001263
25939	SAMHD1	Low-set ears	HP:0000369
25939	SAMHD1	Eyelid coloboma	HP:0000625
25939	SAMHD1	Variable expressivity	HP:0003828
25939	SAMHD1	Ptosis	HP:0000508
25939	SAMHD1	Microcephaly	HP:0000252
25939	SAMHD1	Scaling skin	HP:0040189
25939	SAMHD1	Nystagmus	HP:0000639
50515	CHST11	Postaxial polydactyly	HP:0100259
50515	CHST11	Short thumb	HP:0009778
50515	CHST11	Brachydactyly	HP:0001156
50515	CHST11	Patellar dislocation	HP:0002999
50515	CHST11	Broad hallux	HP:0010055
50515	CHST11	Short distal phalanx of finger	HP:0009882
50515	CHST11	Short hallux	HP:0010109
50515	CHST11	Adducted thumb	HP:0001181
50515	CHST11	Overlapping fingers	HP:0010557
50515	CHST11	Hallux valgus	HP:0001822
25942	SIN3A	Autosomal dominant inheritance	HP:0000006
25942	SIN3A	Congenital diaphragmatic hernia	HP:0000776
25942	SIN3A	Generalized hypotonia	HP:0001290
25942	SIN3A	Thick hair	HP:0100874
25942	SIN3A	Narrow face	HP:0000275
25942	SIN3A	Long face	HP:0000276
25942	SIN3A	Inguinal hernia	HP:0000023
25942	SIN3A	Sparse and thin eyebrow	HP:0000535
25942	SIN3A	Polyhydramnios	HP:0001561
25942	SIN3A	Cryptorchidism	HP:0000028
25942	SIN3A	Hypermetropia	HP:0000540
25942	SIN3A	Gastrointestinal atresia	HP:0002589
25942	SIN3A	Epicanthus	HP:0000286
25942	SIN3A	Hypoplasia of the corpus callosum	HP:0002079
25942	SIN3A	Long palm	HP:0011302
25942	SIN3A	Hypospadias	HP:0000047
25942	SIN3A	Short thumb	HP:0009778
25942	SIN3A	Microphallus	HP:0030260
25942	SIN3A	Microretrognathia	HP:0000308
25942	SIN3A	Micropenis	HP:0000054
25942	SIN3A	Sleep disturbance	HP:0002360
25942	SIN3A	Microphthalmia	HP:0000568
25942	SIN3A	Growth hormone deficiency	HP:0000824
25942	SIN3A	Hypertelorism	HP:0000316
25942	SIN3A	Joint hyperflexibility	HP:0005692
25942	SIN3A	Sandal gap	HP:0001852
25942	SIN3A	Smooth philtrum	HP:0000319
25942	SIN3A	Facial asymmetry	HP:0000324
25942	SIN3A	Upslanted palpebral fissure	HP:0000582
25942	SIN3A	Ventriculomegaly	HP:0002119
25942	SIN3A	Toe clinodactyly	HP:0001863
25942	SIN3A	Developmental regression	HP:0002376
25942	SIN3A	Abnormality of the voice	HP:0001608
25942	SIN3A	Hoarse voice	HP:0001609
25942	SIN3A	Nasal speech	HP:0001611
25942	SIN3A	Dysplastic corpus callosum	HP:0006989
25942	SIN3A	Deep plantar creases	HP:0001869
25942	SIN3A	Long philtrum	HP:0000343
25942	SIN3A	Scoliosis	HP:0002650
25942	SIN3A	High forehead	HP:0000348
25942	SIN3A	Intestinal atresia	HP:0011100
25942	SIN3A	Iris coloboma	HP:0000612
25942	SIN3A	Abnormality of the outer ear	HP:0000356
25942	SIN3A	Attention deficit hyperactivity disorder	HP:0007018
25942	SIN3A	Joint laxity	HP:0001388
25942	SIN3A	Hearing impairment	HP:0000365
25942	SIN3A	Small hand	HP:0200055
25942	SIN3A	Cupped ear	HP:0000378
25942	SIN3A	Short nose	HP:0003196
25942	SIN3A	Nystagmus	HP:0000639
25942	SIN3A	Clinodactyly	HP:0030084
25942	SIN3A	Brachydactyly	HP:0001156
25942	SIN3A	Hypogonadism	HP:0000135
25942	SIN3A	Camptodactyly of finger	HP:0100490
25942	SIN3A	Arachnodactyly	HP:0001166
25942	SIN3A	Macrotia	HP:0000400
25942	SIN3A	High, narrow palate	HP:0002705
25942	SIN3A	Abnormality of the proximal phalanx of the thumb	HP:0009618
25942	SIN3A	Proximal placement of thumb	HP:0009623
25942	SIN3A	Recurrent infections	HP:0002719
25942	SIN3A	Narrow mouth	HP:0000160
25942	SIN3A	Depressed nasal bridge	HP:0005280
25942	SIN3A	Sporadic	HP:0003745
25942	SIN3A	Immunodeficiency	HP:0002721
25942	SIN3A	High anterior hairline	HP:0009890
25942	SIN3A	Fine hair	HP:0002213
25942	SIN3A	Feeding difficulties in infancy	HP:0008872
25942	SIN3A	Prominent nasal bridge	HP:0000426
25942	SIN3A	Underdeveloped nasal alae	HP:0000430
25942	SIN3A	Bilateral single transverse palmar creases	HP:0007598
25942	SIN3A	Wide nasal bridge	HP:0000431
25942	SIN3A	Widely spaced teeth	HP:0000687
25942	SIN3A	Insomnia	HP:0100785
25942	SIN3A	Thick lower lip vermilion	HP:0000179
25942	SIN3A	Short palm	HP:0004279
25942	SIN3A	Conspicuously happy disposition	HP:0100024
25942	SIN3A	Single transverse palmar crease	HP:0000954
25942	SIN3A	Anisocoria	HP:0009916
25942	SIN3A	Cafe-au-lait spot	HP:0000957
25942	SIN3A	Wide nose	HP:0000445
25942	SIN3A	Open mouth	HP:0000194
25942	SIN3A	Flared nostrils	HP:0000454
25942	SIN3A	Thick nasal alae	HP:0009928
25942	SIN3A	Autism	HP:0000717
25942	SIN3A	Aggressive behavior	HP:0000718
25942	SIN3A	Anteverted nares	HP:0000463
25942	SIN3A	Abnormality of cardiovascular system morphology	HP:0030680
25942	SIN3A	High palate	HP:0000218
25942	SIN3A	Intellectual disability	HP:0001249
25942	SIN3A	Pes cavus	HP:0001761
25942	SIN3A	Seizures	HP:0001250
25942	SIN3A	Short stature	HP:0004322
25942	SIN3A	Muscular hypotonia	HP:0001252
25942	SIN3A	Strabismus	HP:0000486
25942	SIN3A	Growth delay	HP:0001510
25942	SIN3A	Intrauterine growth retardation	HP:0001511
25942	SIN3A	Intellectual disability, mild	HP:0001256
25942	SIN3A	Obesity	HP:0001513
25942	SIN3A	Thin vermilion border	HP:0000233
25942	SIN3A	Toe syndactyly	HP:0001770
25942	SIN3A	Deeply set eye	HP:0000490
25942	SIN3A	Downslanted palpebral fissures	HP:0000494
25942	SIN3A	Delayed speech and language development	HP:0000750
25942	SIN3A	Small for gestational age	HP:0001518
25942	SIN3A	Global developmental delay	HP:0001263
25942	SIN3A	Hyperactivity	HP:0000752
25942	SIN3A	Highly arched eyebrow	HP:0002553
25942	SIN3A	Radial deviation of finger	HP:0009466
25942	SIN3A	Medial flaring of the eyebrow	HP:0010747
25942	SIN3A	Microcephaly	HP:0000252
25942	SIN3A	Abnormality of the thorax	HP:0000765
140628	GATA5	Brachydactyly	HP:0001156
140628	GATA5	Heart murmur	HP:0030148
140628	GATA5	Ascending aortic dissection	HP:0004933
140628	GATA5	Autosomal dominant inheritance	HP:0000006
140628	GATA5	Autosomal recessive inheritance	HP:0000007
140628	GATA5	Proptosis	HP:0000520
140628	GATA5	Dolichocephaly	HP:0000268
140628	GATA5	Coarctation of aorta	HP:0001680
140628	GATA5	Broad forehead	HP:0000337
140628	GATA5	Cryptorchidism	HP:0000028
140628	GATA5	Aortic valve calcification	HP:0004380
140628	GATA5	Ventricular septal defect	HP:0001629
140628	GATA5	Abnormal left ventricular outflow tract morphology	HP:0011103
140628	GATA5	Hypoplastic left heart	HP:0004383
140628	GATA5	Atrial septal defect	HP:0001631
140628	GATA5	Thoracic aorta calcification	HP:0004962
140628	GATA5	Underdeveloped supraorbital ridges	HP:0009891
140628	GATA5	Tetralogy of Fallot	HP:0001636
140628	GATA5	Intrauterine growth retardation	HP:0001511
140628	GATA5	Thin vermilion border	HP:0000233
140628	GATA5	Dilated cardiomyopathy	HP:0001644
140628	GATA5	Bicuspid aortic valve	HP:0001647
140628	GATA5	Abnormal nasal morphology	HP:0005105
140628	GATA5	Clinodactyly of the 5th finger	HP:0004209
140628	GATA5	Aortic valve stenosis	HP:0001650
140628	GATA5	Preauricular pit	HP:0004467
140628	GATA5	Incomplete penetrance	HP:0003829
140628	GATA5	Hypertension	HP:0000822
140628	GATA5	Atrial fibrillation	HP:0005110
140628	GATA5	Double outlet right ventricle	HP:0001719
140628	GATA5	Aortic arch aneurysm	HP:0005113
140628	GATA5	Aortic regurgitation	HP:0001659
1369	CPN1	Autosomal recessive inheritance	HP:0000007
1369	CPN1	Angioedema	HP:0100665
9562	MINPP1	Neoplasm of head and neck	HP:0012288
9562	MINPP1	Chronic lung disease	HP:0006528
9562	MINPP1	Spinal cord compression	HP:0002176
9562	MINPP1	Recurrent fractures	HP:0002757
9562	MINPP1	Abnormality of neck blood vessel	HP:3000037
9562	MINPP1	Chronic noninfectious lymphadenopathy	HP:0002730
9562	MINPP1	Nodular goiter	HP:0005994
9562	MINPP1	Follicular thyroid carcinoma	HP:0006731
9562	MINPP1	Colon cancer	HP:0003003
9562	MINPP1	Bone pain	HP:0002653
9562	MINPP1	Papillary renal cell carcinoma	HP:0006766
9562	MINPP1	Papillary thyroid carcinoma	HP:0002895
1371	CPOX	Hepatomegaly	HP:0002240
1371	CPOX	Abnormal blistering of the skin	HP:0008066
1371	CPOX	Thin skin	HP:0000963
1371	CPOX	Congenital hemolytic anemia	HP:0004804
1371	CPOX	Autosomal dominant inheritance	HP:0000006
1371	CPOX	Confusion	HP:0001289
1371	CPOX	Hypermelanotic macule	HP:0001034
1371	CPOX	Depressivity	HP:0000716
1371	CPOX	Arthralgia	HP:0002829
1371	CPOX	Splenomegaly	HP:0001744
1371	CPOX	Abnormality of metabolism/homeostasis	HP:0001939
1371	CPOX	Hyponatremia	HP:0002902
1371	CPOX	Respiratory paralysis	HP:0002203
1371	CPOX	Vomiting	HP:0002013
1371	CPOX	Diarrhea	HP:0002014
1371	CPOX	Paranoia	HP:0011999
1371	CPOX	Cutaneous photosensitivity	HP:0000992
1371	CPOX	Acute episodes of neuropathic symptoms	HP:0003489
1371	CPOX	Irritability	HP:0000737
1371	CPOX	Nausea and vomiting	HP:0002017
1371	CPOX	Hallucinations	HP:0000738
1371	CPOX	Seizures	HP:0001250
1371	CPOX	Constipation	HP:0002019
1371	CPOX	Anxiety	HP:0000739
1371	CPOX	Peripheral neuropathy	HP:0009830
1371	CPOX	Hypertrichosis	HP:0000998
1371	CPOX	Abdominal pain	HP:0002027
1371	CPOX	Insomnia	HP:0100785
1371	CPOX	Tachycardia	HP:0001649
1371	CPOX	Incomplete penetrance	HP:0003829
1371	CPOX	Hypertension	HP:0000822
1371	CPOX	Jaundice	HP:0000952
1371	CPOX	Auditory hallucinations	HP:0008765
1371	CPOX	Myalgia	HP:0003326
1371	CPOX	Visual hallucinations	HP:0002367
9563	H6PD	Acne	HP:0001061
9563	H6PD	Infertility	HP:0000789
9563	H6PD	Autosomal recessive inheritance	HP:0000007
9563	H6PD	Obesity	HP:0001513
9563	H6PD	Oligomenorrhea	HP:0000876
9563	H6PD	Hirsutism	HP:0001007
1373	CPS1	Irritability	HP:0000737
1373	CPS1	Intellectual disability	HP:0001249
1373	CPS1	Seizures	HP:0001250
1373	CPS1	Ataxia	HP:0001251
1373	CPS1	Hyperammonemia	HP:0001987
1373	CPS1	Failure to thrive	HP:0001508
1373	CPS1	Muscular hypotonia	HP:0001252
1373	CPS1	Cerebral edema	HP:0002181
1373	CPS1	Lethargy	HP:0001254
1373	CPS1	Autosomal recessive inheritance	HP:0000007
1373	CPS1	Hypoargininemia	HP:0005961
1373	CPS1	Coma	HP:0001259
1373	CPS1	Respiratory insufficiency	HP:0002093
1373	CPS1	Global developmental delay	HP:0001263
1373	CPS1	Stroke	HP:0001297
1373	CPS1	Low plasma citrulline	HP:0003572
1373	CPS1	Protein avoidance	HP:0002038
1373	CPS1	Aminoaciduria	HP:0003355
1373	CPS1	Vomiting	HP:0002013
1373	CPS1	Respiratory alkalosis	HP:0001950
1373	CPS1	Episodic ammonia intoxication	HP:0001951
1374	CPT1A	Hepatomegaly	HP:0002240
1374	CPT1A	Hypoketotic hypoglycemia	HP:0001985
1374	CPT1A	Skeletal muscle atrophy	HP:0003202
1374	CPT1A	Hyperammonemia	HP:0001987
1374	CPT1A	Behavioral abnormality	HP:0000708
1374	CPT1A	Autosomal recessive inheritance	HP:0000007
1374	CPT1A	Generalized hypotonia	HP:0001290
1374	CPT1A	Loss of consciousness	HP:0007185
1374	CPT1A	Hemiplegia/hemiparesis	HP:0004374
1374	CPT1A	Hypoglycemia	HP:0001943
1374	CPT1A	Transient hyperlipidemia	HP:0008279
1374	CPT1A	Fatigue	HP:0012378
1374	CPT1A	Renal tubular acidosis	HP:0001947
1374	CPT1A	Arrhythmia	HP:0011675
1374	CPT1A	Elevated hepatic transaminase	HP:0002910
1374	CPT1A	Diarrhea	HP:0002014
1374	CPT1A	Seizures	HP:0001250
1374	CPT1A	Reduced tendon reflexes	HP:0001315
1374	CPT1A	Muscular hypotonia	HP:0001252
1374	CPT1A	Elevated serum creatine kinase	HP:0003236
1374	CPT1A	Lethargy	HP:0001254
1374	CPT1A	Hypertrophic cardiomyopathy	HP:0001639
1374	CPT1A	Recurrent encephalopathy	HP:0007335
1374	CPT1A	Cardiomegaly	HP:0001640
1374	CPT1A	Feeding difficulties in infancy	HP:0008872
1374	CPT1A	Coma	HP:0001259
1374	CPT1A	Sudden cardiac death	HP:0001645
1374	CPT1A	Hepatic steatosis	HP:0001397
1374	CPT1A	Hepatic failure	HP:0001399
1374	CPT1A	Neurological speech impairment	HP:0002167
1374	CPT1A	Prenatal maternal abnormality	HP:0002686
9568	GABBR2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9568	GABBR2	Macrocephaly	HP:0000256
9568	GABBR2	Absent speech	HP:0001344
9568	GABBR2	Hyperventilation	HP:0002883
9568	GABBR2	Epileptic encephalopathy	HP:0200134
9568	GABBR2	Ventriculomegaly	HP:0002119
9568	GABBR2	Cerebral cortical atrophy	HP:0002120
9568	GABBR2	Developmental regression	HP:0002376
9568	GABBR2	Gait disturbance	HP:0001288
9568	GABBR2	Agitation	HP:0000713
9568	GABBR2	Camptodactyly of finger	HP:0100490
9568	GABBR2	Abnormality of the metacarpal bones	HP:0001163
9568	GABBR2	Abnormal fingernail morphology	HP:0001231
9568	GABBR2	Nephrolithiasis	HP:0000787
9568	GABBR2	Long philtrum	HP:0000343
9568	GABBR2	Hypsarrhythmia	HP:0002521
9568	GABBR2	Wide mouth	HP:0000154
9568	GABBR2	Intellectual disability	HP:0001249
9568	GABBR2	Seizures	HP:0001250
9568	GABBR2	Gastroesophageal reflux	HP:0002020
9568	GABBR2	Fine hair	HP:0002213
9568	GABBR2	Abnormality of the antitragus	HP:0009896
9568	GABBR2	Spasticity	HP:0001257
9568	GABBR2	Abnormal autonomic nervous system physiology	HP:0012332
9568	GABBR2	Inability to walk	HP:0002540
9568	GABBR2	Hearing impairment	HP:0000365
9568	GABBR2	Short foot	HP:0001773
9568	GABBR2	Self-injurious behavior	HP:0100716
9568	GABBR2	Underdeveloped nasal alae	HP:0000430
9568	GABBR2	Clinodactyly of the 5th finger	HP:0004209
9568	GABBR2	EEG abnormality	HP:0002353
9568	GABBR2	Bruxism	HP:0003763
9568	GABBR2	Dystonia	HP:0001332
9568	GABBR2	Small hand	HP:0200055
9568	GABBR2	Thick vermilion border	HP:0012471
9568	GABBR2	Abnormality of movement	HP:0100022
9568	GABBR2	Apnea	HP:0002104
9568	GABBR2	Sleep disturbance	HP:0002360
9568	GABBR2	Microcephaly	HP:0000252
9568	GABBR2	Wide nose	HP:0000445
1376	CPT2	Rhabdomyolysis	HP:0003201
1376	CPT2	Multicystic kidney dysplasia	HP:0000003
1376	CPT2	Cataract	HP:0000518
1376	CPT2	Autosomal dominant inheritance	HP:0000006
1376	CPT2	Autosomal recessive inheritance	HP:0000007
1376	CPT2	Hypoplastic toenails	HP:0001800
1376	CPT2	Infantile onset	HP:0003593
1376	CPT2	Overfolded helix	HP:0000396
1376	CPT2	Basal ganglia cysts	HP:0006799
1376	CPT2	Long toe	HP:0010511
1376	CPT2	Oligohydramnios	HP:0001562
1376	CPT2	Arrhythmia	HP:0011675
1376	CPT2	Tapered finger	HP:0001182
1376	CPT2	Bulbous nose	HP:0000414
1376	CPT2	Hepatic calcification	HP:0006559
1376	CPT2	Decreased plasma total carnitine	HP:0011936
1376	CPT2	Elevated serum creatine kinase	HP:0003236
1376	CPT2	Nonketotic hypoglycemia	HP:0001958
1376	CPT2	Neonatal hypotonia	HP:0001319
1376	CPT2	Feeding difficulties in infancy	HP:0008872
1376	CPT2	Elbow flexion contracture	HP:0002987
1376	CPT2	Muscle weakness	HP:0001324
1376	CPT2	Respiratory insufficiency	HP:0002093
1376	CPT2	Tapered toe	HP:0011309
1376	CPT2	Respiratory distress	HP:0002098
1376	CPT2	Respiratory arrest	HP:0005943
1376	CPT2	Apnea	HP:0002104
1376	CPT2	Narrow palate	HP:0000189
1376	CPT2	Intracerebral periventricular calcifications	HP:0007229
1376	CPT2	Respiratory failure	HP:0002878
1376	CPT2	Hepatomegaly	HP:0002240
1376	CPT2	Hypoketotic hypoglycemia	HP:0001985
1376	CPT2	Muscle spasm	HP:0003394
1376	CPT2	Hyperammonemia	HP:0001987
1376	CPT2	Ventriculomegaly	HP:0002119
1376	CPT2	Ureteral duplication	HP:0000073
1376	CPT2	Polymicrogyria	HP:0002126
1376	CPT2	Wide intermamillary distance	HP:0006610
1376	CPT2	Renal insufficiency	HP:0000083
1376	CPT2	Sloping forehead	HP:0000340
1376	CPT2	Prominent forehead	HP:0011220
1376	CPT2	Fatigue	HP:0012378
1376	CPT2	High palate	HP:0000218
1376	CPT2	High forehead	HP:0000348
1376	CPT2	Vomiting	HP:0002013
1376	CPT2	Elevated hepatic transaminase	HP:0002910
1376	CPT2	Abnormality of nervous system morphology	HP:0012639
1376	CPT2	Abnormality of the foot	HP:0001760
1376	CPT2	Muscle stiffness	HP:0003552
1376	CPT2	Nausea and vomiting	HP:0002017
1376	CPT2	Myoglobinuria	HP:0002913
1376	CPT2	Seizures	HP:0001250
1376	CPT2	Increased muscle lipid content	HP:0009058
1376	CPT2	Muscular hypotonia	HP:0001252
1376	CPT2	Long-chain dicarboxylic aciduria	HP:0008293
1376	CPT2	Cardiomyopathy	HP:0001638
1376	CPT2	Posteriorly rotated ears	HP:0000358
1376	CPT2	Lethargy	HP:0001254
1376	CPT2	Cardiomegaly	HP:0001640
1376	CPT2	Enlarged kidney	HP:0000105
1376	CPT2	Coma	HP:0001259
1376	CPT2	Dilated cardiomyopathy	HP:0001644
1376	CPT2	Knee flexion contracture	HP:0006380
1376	CPT2	Antenatal intracerebral hemorrhage	HP:0007023
1376	CPT2	Low-set ears	HP:0000369
1376	CPT2	Polycystic kidney dysplasia	HP:0000113
1376	CPT2	Death in infancy	HP:0001522
1376	CPT2	Increased total bilirubin	HP:0003573
1376	CPT2	Hepatic failure	HP:0001399
1376	CPT2	Agenesis of corpus callosum	HP:0001274
1376	CPT2	Decreased plasma free carnitine	HP:0008315
1376	CPT2	Macrovesicular hepatic steatosis	HP:0001403
1376	CPT2	Microcephaly	HP:0000252
1376	CPT2	Myopathy	HP:0003198
1376	CPT2	Myalgia	HP:0003326
1376	CPT2	Hydronephrosis	HP:0000126
1376	CPT2	Elevated circulating long chain fatty acid concentration	HP:0003455
9569	GTF2IRD1	Hypercalcemia	HP:0003072
9569	GTF2IRD1	Umbilical hernia	HP:0001537
9569	GTF2IRD1	Arnold-Chiari malformation	HP:0002308
9569	GTF2IRD1	Death in early adulthood	HP:0100613
9569	GTF2IRD1	Cataract	HP:0000518
9569	GTF2IRD1	Hypoplastic toenails	HP:0001800
9569	GTF2IRD1	Recurrent urinary tract infections	HP:0000010
9569	GTF2IRD1	Arthralgia	HP:0002829
9569	GTF2IRD1	Bladder diverticulum	HP:0000015
9569	GTF2IRD1	Tracheoesophageal fistula	HP:0002575
9569	GTF2IRD1	Stroke	HP:0001297
9569	GTF2IRD1	Nephrolithiasis	HP:0000787
9569	GTF2IRD1	Narrow face	HP:0000275
9569	GTF2IRD1	Corneal opacity	HP:0007957
9569	GTF2IRD1	Inguinal hernia	HP:0000023
9569	GTF2IRD1	Abnormality of extrapyramidal motor function	HP:0002071
9569	GTF2IRD1	Coarse facial features	HP:0000280
9569	GTF2IRD1	Functional abnormality of male internal genitalia	HP:0000025
9569	GTF2IRD1	Nevus flammeus	HP:0001052
9569	GTF2IRD1	Hyperacusis	HP:0010780
9569	GTF2IRD1	Cryptorchidism	HP:0000028
9569	GTF2IRD1	Supravalvular aortic stenosis	HP:0004381
9569	GTF2IRD1	Hallux valgus	HP:0001822
9569	GTF2IRD1	Dysgraphia	HP:0010526
9569	GTF2IRD1	Epicanthus	HP:0000286
9569	GTF2IRD1	Dysmetria	HP:0001310
9569	GTF2IRD1	Hypoplasia of penis	HP:0008736
9569	GTF2IRD1	Myopia	HP:0000545
9569	GTF2IRD1	Flat cornea	HP:0007720
9569	GTF2IRD1	Genu valgum	HP:0002857
9569	GTF2IRD1	Hypogonadotrophic hypogonadism	HP:0000044
9569	GTF2IRD1	Redundant skin	HP:0001582
9569	GTF2IRD1	Peptic ulcer	HP:0004398
9569	GTF2IRD1	Abnormal circulating lipid concentration	HP:0003119
9569	GTF2IRD1	High hypermetropia	HP:0008499
9569	GTF2IRD1	Pointed chin	HP:0000307
9569	GTF2IRD1	Abnormal dermatoglyphics	HP:0007477
9569	GTF2IRD1	Hypothyroidism	HP:0000821
9569	GTF2IRD1	Open bite	HP:0010807
9569	GTF2IRD1	Cholelithiasis	HP:0001081
9569	GTF2IRD1	Tremor	HP:0001337
9569	GTF2IRD1	Precocious puberty	HP:0000826
9569	GTF2IRD1	Joint hyperflexibility	HP:0005692
9569	GTF2IRD1	Overriding aorta	HP:0002623
9569	GTF2IRD1	Hyperreflexia	HP:0001347
9569	GTF2IRD1	Blepharophimosis	HP:0000581
9569	GTF2IRD1	Prematurely aged appearance	HP:0007495
9569	GTF2IRD1	Cerebral cortical atrophy	HP:0002120
9569	GTF2IRD1	Developmental regression	HP:0002376
9569	GTF2IRD1	Hoarse voice	HP:0001609
9569	GTF2IRD1	Renal duplication	HP:0000075
9569	GTF2IRD1	Vesicoureteral reflux	HP:0000076
9569	GTF2IRD1	Elfin facies	HP:0004428
9569	GTF2IRD1	Cerebral ischemia	HP:0002637
9569	GTF2IRD1	Broad forehead	HP:0000337
9569	GTF2IRD1	Nystagmus-induced head nodding	HP:0001361
9569	GTF2IRD1	Dysphonia	HP:0001618
9569	GTF2IRD1	Renal insufficiency	HP:0000083
9569	GTF2IRD1	Abnormality of pelvic girdle bone morphology	HP:0002644
9569	GTF2IRD1	Down-sloping shoulders	HP:0200021
9569	GTF2IRD1	Long philtrum	HP:0000343
9569	GTF2IRD1	Renal hypoplasia	HP:0000089
9569	GTF2IRD1	Scoliosis	HP:0002650
9569	GTF2IRD1	Type II diabetes mellitus	HP:0005978
9569	GTF2IRD1	Micrognathia	HP:0000347
9569	GTF2IRD1	High forehead	HP:0000348
9569	GTF2IRD1	Gait imbalance	HP:0002141
9569	GTF2IRD1	Ventricular septal defect	HP:0001629
9569	GTF2IRD1	Proteinuria	HP:0000093
9569	GTF2IRD1	Vertebral segmentation defect	HP:0003422
9569	GTF2IRD1	Atrial septal defect	HP:0001631
9569	GTF2IRD1	Mitral valve prolapse	HP:0001634
9569	GTF2IRD1	Congestive heart failure	HP:0001635
9569	GTF2IRD1	Tetralogy of Fallot	HP:0001636
9569	GTF2IRD1	Hypercalciuria	HP:0002150
9569	GTF2IRD1	Hypertrophic cardiomyopathy	HP:0001639
9569	GTF2IRD1	Cardiomegaly	HP:0001640
9569	GTF2IRD1	Peripheral pulmonary artery stenosis	HP:0004969
9569	GTF2IRD1	Attention deficit hyperactivity disorder	HP:0007018
9569	GTF2IRD1	Pulmonic stenosis	HP:0001642
9569	GTF2IRD1	Patent ductus arteriosus	HP:0001643
9569	GTF2IRD1	Joint stiffness	HP:0001387
9569	GTF2IRD1	Joint laxity	HP:0001388
9569	GTF2IRD1	Sudden cardiac death	HP:0001645
9569	GTF2IRD1	Bicuspid aortic valve	HP:0001647
9569	GTF2IRD1	Low-set, posteriorly rotated ears	HP:0000368
9569	GTF2IRD1	Retinal arteriolar tortuosity	HP:0001136
9569	GTF2IRD1	Clinodactyly of the 5th finger	HP:0004209
9569	GTF2IRD1	Posterior embryotoxon	HP:0000627
9569	GTF2IRD1	Mitral regurgitation	HP:0001653
9569	GTF2IRD1	Aplasia/Hypoplasia of the iris	HP:0008053
9569	GTF2IRD1	Lacrimation abnormality	HP:0000632
9569	GTF2IRD1	Nephrocalcinosis	HP:0000121
9569	GTF2IRD1	Myocardial infarction	HP:0001658
9569	GTF2IRD1	Blue irides	HP:0000635
9569	GTF2IRD1	Short nose	HP:0003196
9569	GTF2IRD1	Pelvic kidney	HP:0000125
9569	GTF2IRD1	Myopathy	HP:0003198
9569	GTF2IRD1	Increased nuchal translucency	HP:0010880
9569	GTF2IRD1	Chronic otitis media	HP:0000389
9569	GTF2IRD1	Phonophobia	HP:0002183
9569	GTF2IRD1	Macrotia	HP:0000400
9569	GTF2IRD1	Polycystic ovaries	HP:0000147
9569	GTF2IRD1	Sensorineural hearing impairment	HP:0000407
9569	GTF2IRD1	Wide mouth	HP:0000154
9569	GTF2IRD1	Protruding ear	HP:0000411
9569	GTF2IRD1	Hypodontia	HP:0000668
9569	GTF2IRD1	Adducted thumb	HP:0001181
9569	GTF2IRD1	Recurrent respiratory infections	HP:0002205
9569	GTF2IRD1	Macroglossia	HP:0000158
9569	GTF2IRD1	Carious teeth	HP:0000670
9569	GTF2IRD1	Radioulnar synostosis	HP:0002974
9569	GTF2IRD1	Elevated serum creatine kinase	HP:0003236
9569	GTF2IRD1	Abnormality of the diencephalon	HP:0010662
9569	GTF2IRD1	Abnormality of dental enamel	HP:0000682
9569	GTF2IRD1	Osteopenia	HP:0000938
9569	GTF2IRD1	Osteoporosis	HP:0000939
9569	GTF2IRD1	Hypoplasia of the zygomatic bone	HP:0010669
9569	GTF2IRD1	Wide nasal bridge	HP:0000431
9569	GTF2IRD1	Insomnia	HP:0100785
9569	GTF2IRD1	Tubulointerstitial abnormality	HP:0001969
9569	GTF2IRD1	Dental malocclusion	HP:0000689
9569	GTF2IRD1	Microdontia	HP:0000691
9569	GTF2IRD1	Thick lower lip vermilion	HP:0000179
9569	GTF2IRD1	Patellar dislocation	HP:0002999
9569	GTF2IRD1	Overfriendliness	HP:0100025
9569	GTF2IRD1	Periorbital edema	HP:0100539
9569	GTF2IRD1	Multiple renal cysts	HP:0005562
9569	GTF2IRD1	Delayed skeletal maturation	HP:0002750
9569	GTF2IRD1	Sacral dimple	HP:0000960
9569	GTF2IRD1	Abnormality of the gastric mucosa	HP:0004295
9569	GTF2IRD1	Atrophy/Degeneration involving the corticospinal tracts	HP:0007372
9569	GTF2IRD1	Depressivity	HP:0000716
9569	GTF2IRD1	Colonic diverticula	HP:0002253
9569	GTF2IRD1	Autism	HP:0000717
9569	GTF2IRD1	Abnormal fingernail morphology	HP:0001231
9569	GTF2IRD1	Abnormality of the neck	HP:0000464
9569	GTF2IRD1	Renovascular hypertension	HP:0100817
9569	GTF2IRD1	Abnormal endocardium morphology	HP:0004306
9569	GTF2IRD1	Obsessive-compulsive behavior	HP:0000722
9569	GTF2IRD1	Gingival overgrowth	HP:0000212
9569	GTF2IRD1	Abnormality of the ankles	HP:0003028
9569	GTF2IRD1	Urethral stenosis	HP:0008661
9569	GTF2IRD1	Abnormal carotid artery morphology	HP:0005344
9569	GTF2IRD1	Nausea and vomiting	HP:0002017
9569	GTF2IRD1	Intellectual disability	HP:0001249
9569	GTF2IRD1	Spina bifida occulta	HP:0003298
9569	GTF2IRD1	Short stature	HP:0004322
9569	GTF2IRD1	Constipation	HP:0002019
9569	GTF2IRD1	Anxiety	HP:0000739
9569	GTF2IRD1	Pes planus	HP:0001763
9569	GTF2IRD1	Gastroesophageal reflux	HP:0002020
9569	GTF2IRD1	Muscular hypotonia	HP:0001252
9569	GTF2IRD1	Megalocornea	HP:0000485
9569	GTF2IRD1	Strabismus	HP:0000486
9569	GTF2IRD1	Malabsorption	HP:0002024
9569	GTF2IRD1	Everted lower lip vermilion	HP:0000232
9569	GTF2IRD1	Obesity	HP:0001513
9569	GTF2IRD1	Spasticity	HP:0001257
9569	GTF2IRD1	Hyperlordosis	HP:0003307
9569	GTF2IRD1	Abdominal pain	HP:0002027
9569	GTF2IRD1	Dysarthria	HP:0001260
9569	GTF2IRD1	Abnormal form of the vertebral bodies	HP:0003312
9569	GTF2IRD1	Rectal prolapse	HP:0002035
9569	GTF2IRD1	Glaucoma	HP:0000501
9569	GTF2IRD1	Kyphosis	HP:0002808
9569	GTF2IRD1	Aortic arch aneurysm	HP:0005113
9569	GTF2IRD1	Visual impairment	HP:0000505
9569	GTF2IRD1	Increased bone mineral density	HP:0011001
9569	GTF2IRD1	Failure to thrive in infancy	HP:0001531
9569	GTF2IRD1	Microcephaly	HP:0000252
9569	GTF2IRD1	Pectus excavatum	HP:0000767
25953	PNKD	Autosomal dominant inheritance	HP:0000006
25953	PNKD	Childhood onset	HP:0011463
25953	PNKD	Infantile onset	HP:0003593
25953	PNKD	Myokymia	HP:0002411
25953	PNKD	Joint stiffness	HP:0001387
25953	PNKD	Dysarthria	HP:0001260
25953	PNKD	Dyspnea	HP:0002094
25953	PNKD	Rigidity	HP:0002063
25953	PNKD	Facial grimacing	HP:0000273
25953	PNKD	Choreoathetosis	HP:0001266
25953	PNKD	Trismus	HP:0000211
25953	PNKD	Dyskinesia	HP:0100660
25953	PNKD	Neurological speech impairment	HP:0002167
25953	PNKD	Hyperkinesis	HP:0002487
25953	PNKD	Torticollis	HP:0000473
25953	PNKD	Staring gaze	HP:0025401
25953	PNKD	Paroxysmal choreoathetosis	HP:0007098
25953	PNKD	Paroxysmal dystonia	HP:0002268
25953	PNKD	Generalized muscle weakness	HP:0003324
25953	PNKD	Paroxysmal dyskinesia	HP:0007166
25953	PNKD	Dysphagia	HP:0002015
9570	GOSR2	Ataxia	HP:0001251
9570	GOSR2	Difficulty walking	HP:0002355
9570	GOSR2	Atonic seizures	HP:0010819
9570	GOSR2	Elevated serum creatine kinase	HP:0003236
9570	GOSR2	Areflexia	HP:0001284
9570	GOSR2	Autosomal recessive inheritance	HP:0000007
9570	GOSR2	Myoclonus	HP:0001336
9570	GOSR2	Absence seizure	HP:0002121
9570	GOSR2	Tremor	HP:0001337
9570	GOSR2	Scoliosis	HP:0002650
9570	GOSR2	Progressive	HP:0003676
9570	GOSR2	Dysarthria	HP:0001260
1380	CR2	Hepatomegaly	HP:0002240
1380	CR2	Recurrent pneumonia	HP:0006532
1380	CR2	Chronic otitis media	HP:0000389
1380	CR2	Autosomal dominant inheritance	HP:0000006
1380	CR2	Meningitis	HP:0001287
1380	CR2	Autosomal recessive inheritance	HP:0000007
1380	CR2	Vasculitis	HP:0002633
1380	CR2	Arthralgia	HP:0002829
1380	CR2	Autoimmunity	HP:0002960
1380	CR2	Splenomegaly	HP:0001744
1380	CR2	Recurrent otitis media	HP:0000403
1380	CR2	Purpura	HP:0000979
1380	CR2	Recurrent bronchitis	HP:0002837
1380	CR2	Hemolytic anemia	HP:0001878
1380	CR2	Decreased antibody level in blood	HP:0004313
1380	CR2	Decreased circulating IgG level	HP:0004315
1380	CR2	Lymphadenopathy	HP:0002716
1380	CR2	Recurrent respiratory infections	HP:0002205
1380	CR2	Diarrhea	HP:0002014
1380	CR2	Recurrent bacterial infections	HP:0002718
1380	CR2	Elevated hepatic transaminase	HP:0002910
1380	CR2	Decreased circulating IgA level	HP:0002720
1380	CR2	Lymphopenia	HP:0001888
1380	CR2	Immunodeficiency	HP:0002721
1380	CR2	Decreased circulating total IgM	HP:0002850
1380	CR2	Recurrent sinusitis	HP:0011108
1380	CR2	Anal atresia	HP:0002023
1380	CR2	Neoplasm	HP:0002664
1380	CR2	Lymphoma	HP:0002665
1380	CR2	Follicular hyperplasia	HP:0002729
1380	CR2	Pneumonia	HP:0002090
1380	CR2	Restrictive ventilatory defect	HP:0002091
1380	CR2	Chronic diarrhea	HP:0002028
1380	CR2	Emphysema	HP:0002097
1380	CR2	Gastrointestinal stroma tumor	HP:0100723
1380	CR2	Autoimmune thrombocytopenia	HP:0001973
1380	CR2	Brachycephaly	HP:0000248
1380	CR2	Impaired T cell function	HP:0005435
1380	CR2	Failure to thrive in infancy	HP:0001531
1380	CR2	Conjunctivitis	HP:0000509
1380	CR2	Bronchiectasis	HP:0002110
1380	CR2	Posterior pharyngeal cleft	HP:0006783
9573	GDF3	Facial asymmetry	HP:0000324
9573	GDF3	Abnormality of the ribs	HP:0000772
9573	GDF3	Autosomal dominant inheritance	HP:0000006
9573	GDF3	Hypoplasia of the fovea	HP:0007750
9573	GDF3	Abnormal vertebral segmentation and fusion	HP:0005640
9573	GDF3	Cervical C3/C4 vertebral fusion	HP:0030281
9573	GDF3	Abnormal cranial nerve morphology	HP:0001291
9573	GDF3	Coloboma	HP:0000589
9573	GDF3	Sprengel anomaly	HP:0000912
9573	GDF3	Webbed neck	HP:0000465
9573	GDF3	Bilateral microphthalmos	HP:0007633
9573	GDF3	Hemiplegia/hemiparesis	HP:0004374
9573	GDF3	Short neck	HP:0000470
9573	GDF3	Optic disc hypoplasia	HP:0007766
9573	GDF3	Scoliosis	HP:0002650
9573	GDF3	Cervical C5/C6 vertebrae fusion	HP:0004635
9573	GDF3	Ventricular septal defect	HP:0001629
9573	GDF3	Abnormality of the shoulder	HP:0003043
9573	GDF3	Iris coloboma	HP:0000612
9573	GDF3	Congenital muscular torticollis	HP:0005988
9573	GDF3	Renal hypoplasia/aplasia	HP:0008678
9573	GDF3	Anal atresia	HP:0002023
9573	GDF3	Digenic inheritance	HP:0010984
9573	GDF3	Hearing impairment	HP:0000365
9573	GDF3	Ectopic anus	HP:0004397
9573	GDF3	Spina bifida	HP:0002414
9573	GDF3	Cleft palate	HP:0000175
9573	GDF3	Low posterior hairline	HP:0002162
9573	GDF3	Abnormal sacrum morphology	HP:0005107
9573	GDF3	Chorioretinal coloboma	HP:0000567
9573	GDF3	Abnormal temporal bone morphology	HP:0009911
9573	GDF3	Microphthalmia	HP:0000568
9573	GDF3	Visual impairment	HP:0000505
9573	GDF3	Cervical C2/C3 vertebral fusion	HP:0004602
9573	GDF3	Cognitive impairment	HP:0100543
9573	GDF3	Thoracic scoliosis	HP:0002943
9573	GDF3	Nystagmus	HP:0000639
25959	KANK2	Sparse scalp hair	HP:0002209
25959	KANK2	Nephrotic syndrome	HP:0000100
25959	KANK2	Woolly scalp hair	HP:0040149
25959	KANK2	Hematuria	HP:0000790
25959	KANK2	Palmoplantar keratoderma	HP:0000982
25959	KANK2	Sparse and thin eyebrow	HP:0000535
25959	KANK2	Autosomal recessive inheritance	HP:0000007
25959	KANK2	Sparse body hair	HP:0002231
25959	KANK2	Proteinuria	HP:0000093
25959	KANK2	Sparse eyelashes	HP:0000653
1384	CRAT	Hyperreflexia	HP:0001347
1384	CRAT	Motor delay	HP:0001270
1384	CRAT	Cerebellar atrophy	HP:0001272
1384	CRAT	Tremor	HP:0001337
1384	CRAT	Progressive	HP:0003676
1384	CRAT	Loss of ability to walk	HP:0006957
1384	CRAT	Unsteady gait	HP:0002317
1384	CRAT	Dysmetria	HP:0001310
1384	CRAT	Delayed speech and language development	HP:0000750
1385	CREB1	Somatic mutation	HP:0001428
1385	CREB1	Histiocytoma	HP:0012315
1387	CREBBP	Wide anterior fontanel	HP:0000260
1387	CREBBP	Cataract	HP:0000518
1387	CREBBP	Autosomal dominant inheritance	HP:0000006
1387	CREBBP	Radial deviation of thumb terminal phalanx	HP:0005895
1387	CREBBP	Proptosis	HP:0000520
1387	CREBBP	Generalized hypotonia	HP:0001290
1387	CREBBP	Dislocated radial head	HP:0003083
1387	CREBBP	Unsteady gait	HP:0002317
1387	CREBBP	Delayed cranial suture closure	HP:0000270
1387	CREBBP	Long eyelashes	HP:0000527
1387	CREBBP	Facial grimacing	HP:0000273
1387	CREBBP	High axial triradius	HP:0001042
1387	CREBBP	Retrognathia	HP:0000278
1387	CREBBP	Vascular ring	HP:0010775
1387	CREBBP	Polyhydramnios	HP:0001561
1387	CREBBP	Abnormality of refraction	HP:0000539
1387	CREBBP	Cryptorchidism	HP:0000028
1387	CREBBP	Epicanthus	HP:0000286
1387	CREBBP	Low hanging columella	HP:0009765
1387	CREBBP	Low anterior hairline	HP:0000294
1387	CREBBP	Broad thumb	HP:0011304
1387	CREBBP	Hypospadias	HP:0000047
1387	CREBBP	EEG abnormality	HP:0002353
1387	CREBBP	Shawl scrotum	HP:0000049
1387	CREBBP	Respiratory distress	HP:0002098
1387	CREBBP	Hypoplastic iliac wing	HP:0002866
1387	CREBBP	Flared iliac wings	HP:0002869
1387	CREBBP	Obstructive sleep apnea	HP:0002870
1387	CREBBP	Bimanual synkinesia	HP:0001335
1387	CREBBP	Deviated nasal septum	HP:0004411
1387	CREBBP	Thick eyebrow	HP:0000574
1387	CREBBP	Laryngomalacia	HP:0001601
1387	CREBBP	Poor coordination	HP:0002370
1387	CREBBP	Keloids	HP:0010562
1387	CREBBP	Nasolacrimal duct obstruction	HP:0000579
1387	CREBBP	Hyperreflexia	HP:0001347
1387	CREBBP	Hypoplasia of the maxilla	HP:0000327
1387	CREBBP	Broad hallux	HP:0010055
1387	CREBBP	Premature thelarche	HP:0010314
1387	CREBBP	Abnormality of the kidney	HP:0000077
1387	CREBBP	Coloboma	HP:0000589
1387	CREBBP	Talon cusp	HP:0011087
1387	CREBBP	Duplication of phalanx of hallux	HP:0010066
1387	CREBBP	Abnormal number of teeth	HP:0006483
1387	CREBBP	Scoliosis	HP:0002650
1387	CREBBP	Micrognathia	HP:0000347
1387	CREBBP	Flexion contracture	HP:0001371
1387	CREBBP	Ventricular septal defect	HP:0001629
1387	CREBBP	Atrial septal defect	HP:0001631
1387	CREBBP	Tethered cord	HP:0002144
1387	CREBBP	Joint hypermobility	HP:0001382
1387	CREBBP	Impulsivity	HP:0100710
1387	CREBBP	Patent ductus arteriosus	HP:0001643
1387	CREBBP	Joint laxity	HP:0001388
1387	CREBBP	Hearing impairment	HP:0000365
1387	CREBBP	Avascular necrosis of the capital femoral epiphysis	HP:0005743
1387	CREBBP	Chorioretinal dystrophy	HP:0001135
1387	CREBBP	Low-set ears	HP:0000369
1387	CREBBP	Clinodactyly of the 5th finger	HP:0004209
1387	CREBBP	Low posterior hairline	HP:0002162
1387	CREBBP	Leukemia	HP:0001909
1387	CREBBP	Abnormality of the pinna	HP:0000377
1387	CREBBP	Syndactyly	HP:0001159
1387	CREBBP	Phonophobia	HP:0002183
1387	CREBBP	Bifid uterus	HP:0000136
1387	CREBBP	Parietal foramina	HP:0002697
1387	CREBBP	Large foramen magnum	HP:0002700
1387	CREBBP	Heterogeneous	HP:0001425
1387	CREBBP	Hypoplasia of dental enamel	HP:0006297
1387	CREBBP	Arrhythmia	HP:0011675
1387	CREBBP	Narrow mouth	HP:0000160
1387	CREBBP	Sporadic	HP:0003745
1387	CREBBP	Truncal obesity	HP:0001956
1387	CREBBP	Dental crowding	HP:0000678
1387	CREBBP	Feeding difficulties in infancy	HP:0008872
1387	CREBBP	Plantar crease between first and second toes	HP:0008107
1387	CREBBP	Wide nasal bridge	HP:0000431
1387	CREBBP	Dental malocclusion	HP:0000689
1387	CREBBP	Patellar dislocation	HP:0002999
1387	CREBBP	Capillary hemangioma	HP:0005306
1387	CREBBP	Single transverse palmar crease	HP:0000954
1387	CREBBP	Frontal upsweep of hair	HP:0002236
1387	CREBBP	Prominent fingertip pads	HP:0001212
1387	CREBBP	Convex nasal ridge	HP:0000444
1387	CREBBP	Cafe-au-lait spot	HP:0000957
1387	CREBBP	Narrow palate	HP:0000189
1387	CREBBP	Delayed skeletal maturation	HP:0002750
1387	CREBBP	Postnatal growth retardation	HP:0008897
1387	CREBBP	Duane anomaly	HP:0009921
1387	CREBBP	Polydactyly	HP:0010442
1387	CREBBP	Aganglionic megacolon	HP:0002251
1387	CREBBP	Autism	HP:0000717
1387	CREBBP	Frontal bossing	HP:0002007
1387	CREBBP	High palate	HP:0000218
1387	CREBBP	Stereotypy	HP:0000733
1387	CREBBP	Short attention span	HP:0000736
1387	CREBBP	Abnormal cornea morphology	HP:0000481
1387	CREBBP	Intellectual disability	HP:0001249
1387	CREBBP	Seizures	HP:0001250
1387	CREBBP	Spina bifida occulta	HP:0003298
1387	CREBBP	Short stature	HP:0004322
1387	CREBBP	Constipation	HP:0002019
1387	CREBBP	Pes planus	HP:0001763
1387	CREBBP	Recurrent upper respiratory tract infections	HP:0002788
1387	CREBBP	Muscular hypotonia	HP:0001252
1387	CREBBP	Failure to thrive	HP:0001508
1387	CREBBP	Self-mutilation	HP:0000742
1387	CREBBP	Deeply set eye	HP:0000490
1387	CREBBP	Downslanted palpebral fissures	HP:0000494
1387	CREBBP	Delayed speech and language development	HP:0000750
1387	CREBBP	Hirsutism	HP:0001007
1387	CREBBP	Hyperactivity	HP:0000752
1387	CREBBP	Papillary cystadenoma of the epididymis	HP:0009715
1387	CREBBP	Agoraphobia	HP:0000756
1387	CREBBP	Variable expressivity	HP:0003828
1387	CREBBP	Glaucoma	HP:0000501
1387	CREBBP	Abnormality of the cervical spine	HP:0003319
1387	CREBBP	Highly arched eyebrow	HP:0002553
1387	CREBBP	Agenesis of corpus callosum	HP:0001274
1387	CREBBP	Ptosis	HP:0000508
1387	CREBBP	Microcephaly	HP:0000252
1387	CREBBP	Pectus excavatum	HP:0000767
9581	PREPL	Feeding difficulties	HP:0011968
9581	PREPL	Hypogonadism	HP:0000135
9581	PREPL	Autosomal recessive inheritance	HP:0000007
9581	PREPL	Generalized hypotonia	HP:0001290
9581	PREPL	Nasal speech	HP:0001611
9581	PREPL	Dolichocephaly	HP:0000268
9581	PREPL	Long eyelashes	HP:0000527
9581	PREPL	Nephrolithiasis	HP:0000787
9581	PREPL	Waddling gait	HP:0002515
9581	PREPL	Hypocalcemia	HP:0002901
9581	PREPL	Decreased fetal movement	HP:0001558
9581	PREPL	Retrognathia	HP:0000278
9581	PREPL	Hypoglycemia	HP:0001943
9581	PREPL	Frontal bossing	HP:0002007
9581	PREPL	Fatigue	HP:0012378
9581	PREPL	Epicanthus	HP:0000286
9581	PREPL	Polyphagia	HP:0002591
9581	PREPL	Depressed nasal bridge	HP:0005280
9581	PREPL	Seizures	HP:0001250
9581	PREPL	Short stature	HP:0004322
9581	PREPL	Failure to thrive	HP:0001508
9581	PREPL	Muscular hypotonia	HP:0001252
9581	PREPL	Intellectual disability, moderate	HP:0002342
9581	PREPL	Growth delay	HP:0001510
9581	PREPL	Muscle weakness	HP:0001324
9581	PREPL	Global developmental delay	HP:0001263
9581	PREPL	Low-set, posteriorly rotated ears	HP:0000368
9581	PREPL	Tented upper lip vermilion	HP:0010804
9581	PREPL	Motor delay	HP:0001270
9581	PREPL	Lactic acidosis	HP:0003128
9581	PREPL	Growth hormone deficiency	HP:0000824
9581	PREPL	Congenital onset	HP:0003577
9581	PREPL	Cystinuria	HP:0003131
9581	PREPL	Ptosis	HP:0000508
9581	PREPL	Mitochondrial respiratory chain defects	HP:0200125
25970	SH2B1	Macrocephaly	HP:0000256
25970	SH2B1	Congenital diaphragmatic hernia	HP:0000776
25970	SH2B1	Hand polydactyly	HP:0001161
25970	SH2B1	Arachnodactyly	HP:0001166
25970	SH2B1	Malar flattening	HP:0000272
25970	SH2B1	Anophthalmia	HP:0000528
25970	SH2B1	Migraine	HP:0002076
25970	SH2B1	Polyphagia	HP:0002591
25970	SH2B1	Language impairment	HP:0002463
25970	SH2B1	Narrow mouth	HP:0000160
25970	SH2B1	Myopia	HP:0000545
25970	SH2B1	Chronic constipation	HP:0012450
25970	SH2B1	Low anterior hairline	HP:0000294
25970	SH2B1	Neonatal hypotonia	HP:0001319
25970	SH2B1	Prominent nasal bridge	HP:0000426
25970	SH2B1	Oval face	HP:0000300
25970	SH2B1	Cleft palate	HP:0000175
25970	SH2B1	EEG abnormality	HP:0002353
25970	SH2B1	Microphthalmia	HP:0000568
25970	SH2B1	No social interaction	HP:0008763
25970	SH2B1	Hypertelorism	HP:0000316
25970	SH2B1	Feeding difficulties	HP:0011968
25970	SH2B1	Syringomyelia	HP:0003396
25970	SH2B1	Psychosis	HP:0000709
25970	SH2B1	Ventriculomegaly	HP:0002119
25970	SH2B1	Hyperinsulinemia	HP:0000842
25970	SH2B1	Aganglionic megacolon	HP:0002251
25970	SH2B1	Vesicoureteral reflux	HP:0000076
25970	SH2B1	Optic nerve coloboma	HP:0000588
25970	SH2B1	Autism	HP:0000717
25970	SH2B1	Chronic kidney disease	HP:0012622
25970	SH2B1	Aggressive behavior	HP:0000718
25970	SH2B1	Broad forehead	HP:0000337
25970	SH2B1	Moderate receptive language delay	HP:0011351
25970	SH2B1	Autistic behavior	HP:0000729
25970	SH2B1	Scoliosis	HP:0002650
25970	SH2B1	Micrognathia	HP:0000347
25970	SH2B1	Proteinuria	HP:0000093
25970	SH2B1	Atrial septal defect	HP:0001631
25970	SH2B1	Intellectual disability	HP:0001249
25970	SH2B1	Seizures	HP:0001250
25970	SH2B1	Short stature	HP:0004322
25970	SH2B1	Muscular hypotonia	HP:0001252
25970	SH2B1	Gastroesophageal reflux	HP:0002020
25970	SH2B1	Hyperuricemia	HP:0002149
25970	SH2B1	Pyloric stenosis	HP:0002021
25970	SH2B1	Strabismus	HP:0000486
25970	SH2B1	Renal agenesis	HP:0000104
25970	SH2B1	Obesity	HP:0001513
25970	SH2B1	Attention deficit hyperactivity disorder	HP:0007018
25970	SH2B1	Delayed speech and language development	HP:0000750
25970	SH2B1	Global developmental delay	HP:0001263
25970	SH2B1	Kyphosis	HP:0002808
25970	SH2B1	Hemivertebrae	HP:0002937
25970	SH2B1	Aortic regurgitation	HP:0001659
25970	SH2B1	Rod-cone dystrophy	HP:0000510
116085	SLC22A12	Hypouricemia	HP:0003537
116085	SLC22A12	Increased urinary urate	HP:0012611
116085	SLC22A12	Uric acid nephrolithiasis	HP:0000791
116085	SLC22A12	Autosomal recessive inheritance	HP:0000007
116085	SLC22A12	Acute tubular necrosis	HP:0008682
116085	SLC22A12	Acute kidney injury	HP:0001919
25974	MMACHC	Autosomal recessive inheritance	HP:0000007
25974	MMACHC	Infantile onset	HP:0003593
25974	MMACHC	Generalized hypotonia	HP:0001290
25974	MMACHC	Decreased methylmalonyl-CoA mutase activity	HP:0003210
25974	MMACHC	Macrotia	HP:0000400
25974	MMACHC	Long face	HP:0000276
25974	MMACHC	Hematuria	HP:0000790
25974	MMACHC	Metabolic acidosis	HP:0001942
25974	MMACHC	Abnormality of extrapyramidal motor function	HP:0002071
25974	MMACHC	Decreased methylcobalamin	HP:0003223
25974	MMACHC	Delirium	HP:0031258
25974	MMACHC	Feeding difficulties in infancy	HP:0008872
25974	MMACHC	Tremor	HP:0001337
25974	MMACHC	Megaloblastic bone marrow	HP:0001980
25974	MMACHC	Smooth philtrum	HP:0000319
25974	MMACHC	Decreased methionine synthase activity	HP:0003524
25974	MMACHC	Pigmentary retinopathy	HP:0000580
25974	MMACHC	Hemolytic-uremic syndrome	HP:0005575
25974	MMACHC	Cerebral cortical atrophy	HP:0002120
25974	MMACHC	Decreased adenosylcobalamin	HP:0003145
25974	MMACHC	Hypomethioninemia	HP:0003658
25974	MMACHC	Cystathioninuria	HP:0003153
25974	MMACHC	Thrombocytopenia	HP:0001873
25974	MMACHC	Renal insufficiency	HP:0000083
25974	MMACHC	Neutropenia	HP:0001875
25974	MMACHC	Pallor	HP:0000980
25974	MMACHC	Dementia	HP:0000726
25974	MMACHC	Cystathioninemia	HP:0003286
25974	MMACHC	Methylmalonic aciduria	HP:0012120
25974	MMACHC	Fatigue	HP:0012378
25974	MMACHC	High forehead	HP:0000348
25974	MMACHC	Proteinuria	HP:0000093
25974	MMACHC	Methylmalonic acidemia	HP:0002912
25974	MMACHC	Megaloblastic anemia	HP:0001889
25974	MMACHC	Intellectual disability	HP:0001249
25974	MMACHC	Seizures	HP:0001250
25974	MMACHC	Muscular hypotonia	HP:0001252
25974	MMACHC	Failure to thrive	HP:0001508
25974	MMACHC	Lethargy	HP:0001254
25974	MMACHC	Retinopathy	HP:0000488
25974	MMACHC	Homocystinuria	HP:0002156
25974	MMACHC	Hydrocephalus	HP:0000238
25974	MMACHC	Global developmental delay	HP:0001263
25974	MMACHC	Reduced visual acuity	HP:0007663
25974	MMACHC	Hyperhomocystinemia	HP:0002160
25974	MMACHC	Nephropathy	HP:0000112
25974	MMACHC	Low-set ears	HP:0000369
25974	MMACHC	Thromboembolism	HP:0001907
25974	MMACHC	Anorexia	HP:0002039
25974	MMACHC	Visual impairment	HP:0000505
25974	MMACHC	Microcephaly	HP:0000252
25974	MMACHC	Nystagmus	HP:0000639
1399	CRKL	Recurrent urinary tract infections	HP:0000010
1399	CRKL	Absent toenail	HP:0001802
1399	CRKL	Camptodactyly of finger	HP:0100490
1399	CRKL	Arachnodactyly	HP:0001166
1399	CRKL	Malar flattening	HP:0000272
1399	CRKL	Oculomotor apraxia	HP:0000657
1399	CRKL	High, narrow palate	HP:0002705
1399	CRKL	Long face	HP:0000276
1399	CRKL	Inguinal hernia	HP:0000023
1399	CRKL	Sensorineural hearing impairment	HP:0000407
1399	CRKL	Absent fingernail	HP:0001817
1399	CRKL	Short distal phalanx of finger	HP:0009882
1399	CRKL	Recurrent respiratory infections	HP:0002205
1399	CRKL	Language impairment	HP:0002463
1399	CRKL	Narrow mouth	HP:0000160
1399	CRKL	Immunodeficiency	HP:0002721
1399	CRKL	Prominent nasal bridge	HP:0000426
1399	CRKL	Underdeveloped nasal alae	HP:0000430
1399	CRKL	Cleft palate	HP:0000175
1399	CRKL	Bowel incontinence	HP:0002607
1399	CRKL	Pointed chin	HP:0000307
1399	CRKL	Short palm	HP:0004279
1399	CRKL	Ankyloglossia	HP:0010296
1399	CRKL	Sandal gap	HP:0001852
1399	CRKL	Joint hyperflexibility	HP:0005692
1399	CRKL	Smooth philtrum	HP:0000319
1399	CRKL	Tics	HP:0100033
1399	CRKL	Branchial fistula	HP:0009795
1399	CRKL	Facial asymmetry	HP:0000324
1399	CRKL	Blepharophimosis	HP:0000581
1399	CRKL	Choanal atresia	HP:0000453
1399	CRKL	Depressivity	HP:0000716
1399	CRKL	Aortic aneurysm	HP:0004942
1399	CRKL	Obsessive-compulsive behavior	HP:0000722
1399	CRKL	Premature birth	HP:0001622
1399	CRKL	Bowing of the long bones	HP:0006487
1399	CRKL	Thin upper lip vermilion	HP:0000219
1399	CRKL	Ventricular septal defect	HP:0001629
1399	CRKL	Atrial septal defect	HP:0001631
1399	CRKL	Intellectual disability	HP:0001249
1399	CRKL	Seizures	HP:0001250
1399	CRKL	Short stature	HP:0004322
1399	CRKL	Pes planus	HP:0001763
1399	CRKL	Pyloric stenosis	HP:0002021
1399	CRKL	Intrauterine growth retardation	HP:0001511
1399	CRKL	Neoplasm	HP:0002664
1399	CRKL	Deeply set eye	HP:0000490
1399	CRKL	Attention deficit hyperactivity disorder	HP:0007018
1399	CRKL	Toe syndactyly	HP:0001770
1399	CRKL	Hyperlordosis	HP:0003307
1399	CRKL	Abnormality of earlobe	HP:0000363
1399	CRKL	Global developmental delay	HP:0001263
1399	CRKL	Clinodactyly of the 5th finger	HP:0004209
1399	CRKL	Coxa valga	HP:0002673
1399	CRKL	Highly arched eyebrow	HP:0002553
1399	CRKL	Ulnar deviation of finger	HP:0009465
1399	CRKL	Aortic regurgitation	HP:0001659
1399	CRKL	Microcephaly	HP:0000252
1399	CRKL	Truncus arteriosus	HP:0001660
25977	NECAP1	Feeding difficulties	HP:0011968
25977	NECAP1	Epileptic encephalopathy	HP:0200134
25977	NECAP1	Autosomal recessive inheritance	HP:0000007
25977	NECAP1	Optic atrophy	HP:0000648
25977	NECAP1	Developmental regression	HP:0002376
25977	NECAP1	Generalized hypotonia	HP:0001290
25977	NECAP1	Cerebral atrophy	HP:0002059
25977	NECAP1	Limb hypertonia	HP:0002509
25977	NECAP1	Autism	HP:0000717
25977	NECAP1	Unsteady gait	HP:0002317
25977	NECAP1	Rigidity	HP:0002063
25977	NECAP1	Encephalopathy	HP:0001298
25977	NECAP1	Status epilepticus	HP:0002133
25977	NECAP1	Decreased fetal movement	HP:0001558
25977	NECAP1	Hypsarrhythmia	HP:0002521
25977	NECAP1	High forehead	HP:0000348
25977	NECAP1	EEG with multifocal slow activity	HP:0010844
25977	NECAP1	Hypodontia	HP:0000668
25977	NECAP1	Brain atrophy	HP:0012444
25977	NECAP1	Abnormal myelination	HP:0012447
25977	NECAP1	Intellectual disability	HP:0001249
25977	NECAP1	Short stature	HP:0004322
25977	NECAP1	Retinal degeneration	HP:0000546
25977	NECAP1	Seizures	HP:0001250
25977	NECAP1	Ataxia	HP:0001251
25977	NECAP1	Gastroesophageal reflux	HP:0002020
25977	NECAP1	Failure to thrive	HP:0001508
25977	NECAP1	Impulsivity	HP:0100710
25977	NECAP1	Muscular hypotonia of the trunk	HP:0008936
25977	NECAP1	Spasticity	HP:0001257
25977	NECAP1	Attention deficit hyperactivity disorder	HP:0007018
25977	NECAP1	Downslanted palpebral fissures	HP:0000494
25977	NECAP1	Delayed speech and language development	HP:0000750
25977	NECAP1	Global developmental delay	HP:0001263
25977	NECAP1	Hyporeflexia	HP:0001265
25977	NECAP1	Difficulty walking	HP:0002355
25977	NECAP1	Mental deterioration	HP:0001268
25977	NECAP1	Poor head control	HP:0002421
25977	NECAP1	Dyskinesia	HP:0100660
25977	NECAP1	Myoclonus	HP:0001336
25977	NECAP1	Abnormality of vision	HP:0000504
25977	NECAP1	Tremor	HP:0001337
25977	NECAP1	Abnormal corpus callosum morphology	HP:0001273
25977	NECAP1	Microcephaly	HP:0000252
25977	NECAP1	Ptosis	HP:0000508
25977	NECAP1	Hypertonia	HP:0001276
25977	NECAP1	Nystagmus	HP:0000639
25978	CHMP2B	Skeletal muscle atrophy	HP:0003202
25978	CHMP2B	Areflexia	HP:0001284
25978	CHMP2B	Collectionism	HP:0030212
25978	CHMP2B	Neurodegeneration	HP:0002180
25978	CHMP2B	Emotional blunting	HP:0030213
25978	CHMP2B	Autosomal dominant inheritance	HP:0000006
25978	CHMP2B	Orofacial dyskinesia	HP:0002310
25978	CHMP2B	Gait disturbance	HP:0001288
25978	CHMP2B	Dyscalculia	HP:0002442
25978	CHMP2B	Apraxia	HP:0002186
25978	CHMP2B	Visual agnosia	HP:0030222
25978	CHMP2B	Astrocytosis	HP:0002446
25978	CHMP2B	Paralysis	HP:0003470
25978	CHMP2B	Perseveration	HP:0030223
25978	CHMP2B	Rigidity	HP:0002063
25978	CHMP2B	Parkinsonism	HP:0001300
25978	CHMP2B	Urinary incontinence	HP:0000020
25978	CHMP2B	Generalized tonic-clonic seizures	HP:0002069
25978	CHMP2B	Abnormality of extrapyramidal motor function	HP:0002071
25978	CHMP2B	Dyslexia	HP:0010522
25978	CHMP2B	Alexia	HP:0010523
25978	CHMP2B	Brain atrophy	HP:0012444
25978	CHMP2B	Dysgraphia	HP:0010526
25978	CHMP2B	Babinski sign	HP:0003487
25978	CHMP2B	Echolalia	HP:0010529
25978	CHMP2B	Poor speech	HP:0002465
25978	CHMP2B	Senile plaques	HP:0100256
25978	CHMP2B	Dyspnea	HP:0002094
25978	CHMP2B	Memory impairment	HP:0002354
25978	CHMP2B	Bulbar signs	HP:0002483
25978	CHMP2B	Dystonia	HP:0001332
25978	CHMP2B	Dysphasia	HP:0002357
25978	CHMP2B	Spoken Word Recognition Deficit	HP:0030391
25978	CHMP2B	Myoclonus	HP:0001336
25978	CHMP2B	Amyotrophic lateral sclerosis	HP:0007354
25978	CHMP2B	Respiratory insufficiency due to muscle weakness	HP:0002747
25978	CHMP2B	Upper motor neuron dysfunction	HP:0002493
25978	CHMP2B	Abnormal lower motor neuron morphology	HP:0002366
25978	CHMP2B	Respiratory failure	HP:0002878
25978	CHMP2B	Anomia	HP:0030784
25978	CHMP2B	Grammar-specific speech disorder	HP:0006977
25978	CHMP2B	Muscle spasm	HP:0003394
25978	CHMP2B	Loss of speech	HP:0002371
25978	CHMP2B	Hyperreflexia	HP:0001347
25978	CHMP2B	Brisk reflexes	HP:0001348
25978	CHMP2B	EEG with continuous slow activity	HP:0011204
25978	CHMP2B	Abnormality of the cerebral white matter	HP:0002500
25978	CHMP2B	Psychosis	HP:0000709
25978	CHMP2B	Hyperorality	HP:0000710
25978	CHMP2B	Restlessness	HP:0000711
25978	CHMP2B	Temporal cortical atrophy	HP:0007112
25978	CHMP2B	Emotional lability	HP:0000712
25978	CHMP2B	Cerebral cortical atrophy	HP:0002120
25978	CHMP2B	Agitation	HP:0000713
25978	CHMP2B	Fasciculations	HP:0002380
25978	CHMP2B	Depressivity	HP:0000716
25978	CHMP2B	Aphasia	HP:0002381
25978	CHMP2B	Aggressive behavior	HP:0000718
25978	CHMP2B	Inappropriate behavior	HP:0000719
25978	CHMP2B	Laryngospasm	HP:0025425
25978	CHMP2B	Restrictive behavior	HP:0000723
25978	CHMP2B	Dementia	HP:0000726
25978	CHMP2B	Xerostomia	HP:0000217
25978	CHMP2B	Thickened nuchal skin fold	HP:0000474
25978	CHMP2B	Fatigue	HP:0012378
25978	CHMP2B	Stereotypy	HP:0000733
25978	CHMP2B	Rapidly progressive	HP:0003678
25978	CHMP2B	Disinhibition	HP:0000734
25978	CHMP2B	Dysphagia	HP:0002015
25978	CHMP2B	Frontotemporal dementia	HP:0002145
25978	CHMP2B	Irritability	HP:0000737
25978	CHMP2B	Nausea and vomiting	HP:0002017
25978	CHMP2B	Neuronal loss in central nervous system	HP:0002529
25978	CHMP2B	Anxiety	HP:0000739
25978	CHMP2B	Apathy	HP:0000741
25978	CHMP2B	Frontal release signs	HP:0000743
25978	CHMP2B	Spasticity	HP:0001257
25978	CHMP2B	Dysarthria	HP:0001260
25978	CHMP2B	Frontotemporal cerebral atrophy	HP:0006892
25978	CHMP2B	Personality changes	HP:0000751
25978	CHMP2B	Hyporeflexia	HP:0001265
25978	CHMP2B	Abnormal brain FDG positron emission tomography	HP:0012658
25978	CHMP2B	Fatigable weakness of swallowing muscles	HP:0030195
25978	CHMP2B	Pain	HP:0012531
25978	CHMP2B	Fatigable weakness of respiratory muscles	HP:0030196
25978	CHMP2B	Lack of insight	HP:0000757
25978	CHMP2B	Motor aphasia	HP:0002427
25978	CHMP2B	Mutism	HP:0002300
25978	CHMP2B	Generalized muscle weakness	HP:0003324
25978	CHMP2B	Adult onset	HP:0003581
25978	CHMP2B	Abulia	HP:0012671
25981	DNAH1	Chronic rhinitis	HP:0002257
25981	DNAH1	Infertility	HP:0000789
25981	DNAH1	Goiter	HP:0000853
25981	DNAH1	Hypothyroidism	HP:0000821
25981	DNAH1	Rhinorrhea	HP:0031417
25981	DNAH1	Wheezing	HP:0030828
25981	DNAH1	Recurrent respiratory infections	HP:0002205
1406	CRX	Abnormal electroretinogram	HP:0000512
1406	CRX	Autosomal dominant inheritance	HP:0000006
1406	CRX	Cataract	HP:0000518
1406	CRX	Hypogonadism	HP:0000135
1406	CRX	Autosomal recessive inheritance	HP:0000007
1406	CRX	Optic atrophy	HP:0000648
1406	CRX	X-linked recessive inheritance	HP:0001419
1406	CRX	Pendular nystagmus	HP:0012043
1406	CRX	Chorioretinal atrophy	HP:0000533
1406	CRX	Conductive hearing impairment	HP:0000405
1406	CRX	Nyctalopia	HP:0000662
1406	CRX	Hemiplegia/hemiparesis	HP:0004374
1406	CRX	Abnormality of retinal pigmentation	HP:0007703
1406	CRX	Sensorineural hearing impairment	HP:0000407
1406	CRX	Hypoplasia of penis	HP:0008736
1406	CRX	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
1406	CRX	Abnormal testis morphology	HP:0000035
1406	CRX	Cone/cone-rod dystrophy	HP:0000548
1406	CRX	Encephalocele	HP:0002084
1406	CRX	Undetectable electroretinogram	HP:0000550
1406	CRX	Color vision defect	HP:0000551
1406	CRX	Retinal pigment epithelial atrophy	HP:0007722
1406	CRX	Wide nasal bridge	HP:0000431
1406	CRX	Keratoconus	HP:0000563
1406	CRX	Bone spicule pigmentation of the retina	HP:0007737
1406	CRX	Peripheral visual field loss	HP:0007994
1406	CRX	Hyperreflexia	HP:0001347
1406	CRX	Hyperinsulinemia	HP:0000842
1406	CRX	Anteverted nares	HP:0000463
1406	CRX	Ophthalmoplegia	HP:0000602
1406	CRX	Type II diabetes mellitus	HP:0005978
1406	CRX	Central scotoma	HP:0000603
1406	CRX	Atypical scarring of skin	HP:0000987
1406	CRX	Metamorphopsia	HP:0012508
1406	CRX	Abnormality of neuronal migration	HP:0002269
1406	CRX	Intellectual disability	HP:0001249
1406	CRX	Seizures	HP:0001250
1406	CRX	Muscular hypotonia	HP:0001252
1406	CRX	Photophobia	HP:0000613
1406	CRX	Obesity	HP:0001513
1406	CRX	Blindness	HP:0000618
1406	CRX	Constriction of peripheral visual field	HP:0001133
1406	CRX	Hearing impairment	HP:0000365
1406	CRX	Abnormal retinal vascular morphology	HP:0008046
1406	CRX	Reduced visual acuity	HP:0007663
1406	CRX	Global developmental delay	HP:0001263
1406	CRX	Macular hyperpigmentation	HP:0011509
1406	CRX	Glaucoma	HP:0000501
1406	CRX	Abnormality of fundus pigmentation	HP:0031605
1406	CRX	Severely reduced visual acuity	HP:0001141
1406	CRX	Visual impairment	HP:0000505
1406	CRX	Progressive night blindness	HP:0007675
1406	CRX	Abnormality of the optic disc	HP:0012795
1406	CRX	Rod-cone dystrophy	HP:0000510
1406	CRX	Nystagmus	HP:0000639
1409	CRYAA	Myopia	HP:0000545
1409	CRYAA	Microcornea	HP:0000482
1409	CRYAA	Iris coloboma	HP:0000612
1409	CRYAA	Cataract	HP:0000518
1409	CRYAA	Autosomal dominant inheritance	HP:0000006
1409	CRYAA	Strabismus	HP:0000486
1409	CRYAA	Amblyopia	HP:0000646
1409	CRYAA	Autosomal recessive inheritance	HP:0000007
1409	CRYAA	Developmental cataract	HP:0000519
1409	CRYAA	Corneal dystrophy	HP:0001131
1409	CRYAA	Corneal opacity	HP:0007957
1409	CRYAA	Glaucoma	HP:0000501
1409	CRYAA	Microphthalmia	HP:0000568
1409	CRYAA	Progressive cataract	HP:0007834
1409	CRYAA	Nystagmus	HP:0000639
1410	CRYAB	EMG abnormality	HP:0003457
1410	CRYAB	EMG: myopathic abnormalities	HP:0003458
1410	CRYAB	Autosomal dominant inheritance	HP:0000006
1410	CRYAB	Cataract	HP:0000518
1410	CRYAB	Autosomal recessive inheritance	HP:0000007
1410	CRYAB	Developmental cataract	HP:0000519
1410	CRYAB	Rigidity	HP:0002063
1410	CRYAB	Abnormal circulating creatine kinase concentration	HP:0040081
1410	CRYAB	Accumulation of muscle fiber desmin	HP:0030225
1410	CRYAB	Sensorineural hearing impairment	HP:0000407
1410	CRYAB	Autophagic vacuoles	HP:0003736
1410	CRYAB	Distal muscle weakness	HP:0002460
1410	CRYAB	Elevated serum creatine kinase	HP:0003236
1410	CRYAB	Retinal dystrophy	HP:0000556
1410	CRYAB	Difficulty walking	HP:0002355
1410	CRYAB	Posterior capsular cataract	HP:0100020
1410	CRYAB	Apnea	HP:0002104
1410	CRYAB	Respiratory insufficiency due to muscle weakness	HP:0002747
1410	CRYAB	Respiratory failure	HP:0002878
1410	CRYAB	Foot dorsiflexor weakness	HP:0009027
1410	CRYAB	Facial diplegia	HP:0001349
1410	CRYAB	Muscle fiber inclusion bodies	HP:0100299
1410	CRYAB	Weak cry	HP:0001612
1410	CRYAB	Abnormality of neutrophils	HP:0001874
1410	CRYAB	Dysphonia	HP:0001618
1410	CRYAB	Neck muscle weakness	HP:0000467
1410	CRYAB	Palmoplantar keratoderma	HP:0000982
1410	CRYAB	Flexion contracture	HP:0001371
1410	CRYAB	Posterior polar cataract	HP:0001115
1410	CRYAB	Slow progression	HP:0003677
1410	CRYAB	Rapidly progressive	HP:0003678
1410	CRYAB	Dysphagia	HP:0002015
1410	CRYAB	Muscle stiffness	HP:0003552
1410	CRYAB	Lipoatrophy	HP:0100578
1410	CRYAB	Muscle fiber splitting	HP:0003555
1410	CRYAB	Increased variability in muscle fiber diameter	HP:0003557
1410	CRYAB	Cardiomyopathy	HP:0001638
1410	CRYAB	Hypertrophic cardiomyopathy	HP:0001639
1410	CRYAB	Progressive distal muscle weakness	HP:0009063
1410	CRYAB	Muscular dystrophy	HP:0003560
1410	CRYAB	Dilated cardiomyopathy	HP:0001644
1410	CRYAB	Late-onset proximal muscle weakness	HP:0003694
1410	CRYAB	Decreased Achilles reflex	HP:0009072
1410	CRYAB	Progressive proximal muscle weakness	HP:0009073
1410	CRYAB	Hyporeflexia	HP:0001265
1410	CRYAB	Mitral regurgitation	HP:0001653
1410	CRYAB	Adult onset	HP:0003581
1410	CRYAB	Limb-girdle muscle weakness	HP:0003325
1410	CRYAB	Myopathy	HP:0003198
1410	CRYAB	Axial muscle weakness	HP:0003327
1411	CRYBA1	Autosomal dominant inheritance	HP:0000006
1411	CRYBA1	Developmental cataract	HP:0000519
1411	CRYBA1	Posterior Y-sutural cataract	HP:0008031
1412	CRYBA2	Myopia	HP:0000545
1412	CRYBA2	Glaucoma	HP:0000501
1412	CRYBA2	Autosomal dominant inheritance	HP:0000006
1412	CRYBA2	Developmental cataract	HP:0000519
1413	CRYBA4	Myopia	HP:0000545
1413	CRYBA4	Microcornea	HP:0000482
1413	CRYBA4	Lamellar cataract	HP:0007971
1413	CRYBA4	Iris coloboma	HP:0000612
1413	CRYBA4	Corneal opacity	HP:0007957
1413	CRYBA4	Autosomal dominant inheritance	HP:0000006
1413	CRYBA4	Cataract	HP:0000518
1413	CRYBA4	Corneal dystrophy	HP:0001131
1413	CRYBA4	Nystagmus	HP:0000639
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	Developmental 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
1415	CRYBB2	Myopia	HP:0000545
1415	CRYBB2	Microcornea	HP:0000482
1415	CRYBB2	Iris coloboma	HP:0000612
1415	CRYBB2	Corneal opacity	HP:0007957
1415	CRYBB2	Cataract	HP:0000518
1415	CRYBB2	Autosomal dominant inheritance	HP:0000006
1415	CRYBB2	Sutural cataract	HP:0010695
1415	CRYBB2	Developmental cataract	HP:0000519
1415	CRYBB2	Cerulean cataract	HP:0007976
1415	CRYBB2	Nuclear pulverulent cataract	HP:0010698
1415	CRYBB2	Corneal dystrophy	HP:0001131
1415	CRYBB2	Nystagmus	HP:0000639
1417	CRYBB3	Nuclear cataract	HP:0100018
1417	CRYBB3	Glaucoma	HP:0000501
1417	CRYBB3	Autosomal dominant inheritance	HP:0000006
1417	CRYBB3	Autosomal recessive inheritance	HP:0000007
1417	CRYBB3	Developmental cataract	HP:0000519
1419	CRYGB	Autosomal dominant inheritance	HP:0000006
1419	CRYGB	Developmental cataract	HP:0000519
1420	CRYGC	Myopia	HP:0000545
1420	CRYGC	Microcornea	HP:0000482
1420	CRYGC	Nuclear cataract	HP:0100018
1420	CRYGC	Iris coloboma	HP:0000612
1420	CRYGC	Photophobia	HP:0000613
1420	CRYGC	Corneal opacity	HP:0007957
1420	CRYGC	Autosomal dominant inheritance	HP:0000006
1420	CRYGC	Amblyopia	HP:0000646
1420	CRYGC	Cataract	HP:0000518
1420	CRYGC	Developmental cataract	HP:0000519
1420	CRYGC	Corneal dystrophy	HP:0001131
1420	CRYGC	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	Developmental cataract	HP:0000519
1421	CRYGD	Corneal dystrophy	HP:0001131
1421	CRYGD	Nystagmus	HP:0000639
1427	CRYGS	Cataract	HP:0000518
1427	CRYGS	Autosomal dominant inheritance	HP:0000006
1427	CRYGS	Membranous cataract	HP:0010922
1428	CRYM	Autosomal dominant inheritance	HP:0000006
1428	CRYM	Sensorineural hearing impairment	HP:0000407
26005	C2CD3	Absent speech	HP:0001344
26005	C2CD3	Postaxial polydactyly	HP:0100259
26005	C2CD3	Upslanted palpebral fissure	HP:0000582
26005	C2CD3	Autosomal recessive inheritance	HP:0000007
26005	C2CD3	Abnormal facial shape	HP:0001999
26005	C2CD3	Cleft palate	HP:0000175
26005	C2CD3	Intellectual disability, severe	HP:0010864
26005	C2CD3	Aplasia of the epiglottis	HP:0008753
26005	C2CD3	Molar tooth sign on MRI	HP:0002419
26005	C2CD3	Trigonocephaly	HP:0000243
26005	C2CD3	Lobulated tongue	HP:0000180
26005	C2CD3	Retinitis	HP:0032118
26005	C2CD3	Micropenis	HP:0000054
26005	C2CD3	Bifid tongue	HP:0010297
26005	C2CD3	Congenital onset	HP:0003577
26005	C2CD3	Telecanthus	HP:0000506
26005	C2CD3	Hamartoma of tongue	HP:0011802
26005	C2CD3	Microcephaly	HP:0000252
26005	C2CD3	Increased number of teeth	HP:0011069
26005	C2CD3	Hypoplasia of the corpus callosum	HP:0002079
9622	KLK4	Amelogenesis imperfecta	HP:0000705
9622	KLK4	Autosomal recessive inheritance	HP:0000007
9622	KLK4	Carious teeth	HP:0000670
9622	KLK4	Anterior open-bite malocclusion	HP:0009102
9627	SNCAIP	Insidious onset	HP:0003587
9627	SNCAIP	Urinary urgency	HP:0000012
9627	SNCAIP	Depressivity	HP:0000716
9627	SNCAIP	Rigidity	HP:0002063
9627	SNCAIP	Short stepped shuffling gait	HP:0007311
9627	SNCAIP	Resting tremor	HP:0002322
9627	SNCAIP	Bradykinesia	HP:0002067
9627	SNCAIP	Parkinsonism	HP:0001300
9627	SNCAIP	Weak voice	HP:0001621
9627	SNCAIP	Dementia	HP:0000726
9627	SNCAIP	Lewy bodies	HP:0100315
9627	SNCAIP	Progressive	HP:0003676
9627	SNCAIP	Dysphagia	HP:0002015
9627	SNCAIP	Sporadic	HP:0003745
9627	SNCAIP	Neuronal loss in central nervous system	HP:0002529
9627	SNCAIP	Hallucinations	HP:0000738
9627	SNCAIP	Constipation	HP:0002019
9627	SNCAIP	Micrographia	HP:0031908
9627	SNCAIP	Mask-like facies	HP:0000298
9627	SNCAIP	Dysarthria	HP:0001260
9627	SNCAIP	Abnormal autonomic nervous system physiology	HP:0012332
9627	SNCAIP	Personality changes	HP:0000751
9627	SNCAIP	Dystonia	HP:0001332
9627	SNCAIP	Sleep disturbance	HP:0002360
9627	SNCAIP	Substantia nigra gliosis	HP:0011960
9627	SNCAIP	Tremor	HP:0001337
9627	SNCAIP	Postural instability	HP:0002172
26011	TENM4	Intention tremor	HP:0002080
26011	TENM4	Variable expressivity	HP:0003828
26011	TENM4	Autosomal dominant inheritance	HP:0000006
26011	TENM4	Age-dependent penetrance	HP:0003831
26011	TENM4	Slow progression	HP:0003677
26011	TENM4	Postural tremor	HP:0002174
26012	NSMF	Ichthyosis	HP:0008064
26012	NSMF	Abnormality of body height	HP:0000002
26012	NSMF	Gynecomastia	HP:0000771
26012	NSMF	Clinodactyly	HP:0030084
26012	NSMF	Absence of pubertal development	HP:0008197
26012	NSMF	Autosomal dominant inheritance	HP:0000006
26012	NSMF	Female hypogonadism	HP:0000134
26012	NSMF	Gait disturbance	HP:0001288
26012	NSMF	Hypoplasia of the uterus	HP:0000013
26012	NSMF	Decreased fertility	HP:0000144
26012	NSMF	Primary amenorrhea	HP:0000786
26012	NSMF	Hypoplasia of the ovary	HP:0008724
26012	NSMF	Sensorineural hearing impairment	HP:0000407
26012	NSMF	Male hypogonadism	HP:0000026
26012	NSMF	Cryptorchidism	HP:0000028
26012	NSMF	Decreased testicular size	HP:0008734
26012	NSMF	Erectile abnormalities	HP:0100639
26012	NSMF	Depressed nasal bridge	HP:0005280
26012	NSMF	Impotence	HP:0000802
26012	NSMF	Abnormality of the dentition	HP:0000164
26012	NSMF	Color vision defect	HP:0000551
26012	NSMF	Cleft lip	HP:0410030
26012	NSMF	Osteopenia	HP:0000938
26012	NSMF	Osteoporosis	HP:0000939
26012	NSMF	Hypogonadotrophic hypogonadism	HP:0000044
26012	NSMF	Muscle weakness	HP:0001324
26012	NSMF	Cleft palate	HP:0000175
26012	NSMF	Micropenis	HP:0000054
26012	NSMF	Paraplegia	HP:0010550
26012	NSMF	Delayed puberty	HP:0000823
26012	NSMF	Bimanual synkinesia	HP:0001335
26012	NSMF	Sparse body hair	HP:0002231
26012	NSMF	Tremor	HP:0001337
26012	NSMF	Hyposmia	HP:0004409
26012	NSMF	Non-obstructive azoospermia	HP:0011961
26012	NSMF	Hypertelorism	HP:0000316
26012	NSMF	Delayed skeletal maturation	HP:0002750
26012	NSMF	Anterior hypopituitarism	HP:0000830
26012	NSMF	Dyspareunia	HP:0030016
26012	NSMF	Increased female libido	HP:0030019
26012	NSMF	Recurrent fractures	HP:0002757
26012	NSMF	Eunuchoid habitus	HP:0003782
26012	NSMF	Abnormality of the voice	HP:0001608
26012	NSMF	Generalized joint laxity	HP:0002761
26012	NSMF	Anosmia	HP:0000458
26012	NSMF	Reduced number of teeth	HP:0009804
26012	NSMF	Depressivity	HP:0000716
26012	NSMF	Congenital sensorineural hearing impairment	HP:0008527
26012	NSMF	Wide intermamillary distance	HP:0006610
26012	NSMF	Abnormality of cardiovascular system morphology	HP:0030680
26012	NSMF	Skeletal dysplasia	HP:0002652
26012	NSMF	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
26012	NSMF	Pes cavus	HP:0001761
26012	NSMF	Camptodactyly	HP:0012385
26012	NSMF	Seizures	HP:0001250
26012	NSMF	Ataxia	HP:0001251
26012	NSMF	Pes planus	HP:0001763
26012	NSMF	Anxiety	HP:0000739
26012	NSMF	Muscular hypotonia	HP:0001252
26012	NSMF	Secondary amenorrhea	HP:0000869
26012	NSMF	Renal agenesis	HP:0000104
26012	NSMF	Obesity	HP:0001513
26012	NSMF	Decreased serum testosterone level	HP:0040171
26012	NSMF	Dysarthria	HP:0001260
26012	NSMF	Breast hypoplasia	HP:0003187
26012	NSMF	Visual impairment	HP:0000505
26012	NSMF	Absence of secondary sex characteristics	HP:0008187
26012	NSMF	Ptosis	HP:0000508
26012	NSMF	Reduced bone mineral density	HP:0004349
26012	NSMF	Nystagmus	HP:0000639
1436	CSF1R	Neuronal loss in central nervous system	HP:0002529
1436	CSF1R	Hyperreflexia	HP:0001347
1436	CSF1R	Abnormality of the cerebral white matter	HP:0002500
1436	CSF1R	Autosomal dominant inheritance	HP:0000006
1436	CSF1R	CNS demyelination	HP:0007305
1436	CSF1R	Spasticity	HP:0001257
1436	CSF1R	Apraxia	HP:0002186
1436	CSF1R	Depressivity	HP:0000716
1436	CSF1R	Rigidity	HP:0002063
1436	CSF1R	Leukoencephalopathy	HP:0002352
1436	CSF1R	Memory impairment	HP:0002354
1436	CSF1R	Bradykinesia	HP:0002067
1436	CSF1R	Frontal lobe dementia	HP:0000727
1436	CSF1R	Shuffling gait	HP:0002362
1436	CSF1R	Gliosis	HP:0002171
1436	CSF1R	Postural instability	HP:0002172
1436	CSF1R	Mutism	HP:0002300
1436	CSF1R	Adult onset	HP:0003581
1436	CSF1R	Rapidly progressive	HP:0003678
1438	CSF2RA	Hypoxemia	HP:0012418
1438	CSF2RA	Foam cells	HP:0003651
1438	CSF2RA	Tachypnea	HP:0002789
1438	CSF2RA	X-linked inheritance	HP:0001417
1438	CSF2RA	Autoimmune antibody positivity	HP:0030057
1438	CSF2RA	Restrictive ventilatory defect	HP:0002091
1438	CSF2RA	Acute infectious pneumonia	HP:0011949
1438	CSF2RA	Crackles	HP:0030830
1438	CSF2RA	Crazy paving pattern on pulmonary HRCT	HP:0025391
1438	CSF2RA	Tachycardia	HP:0001649
1438	CSF2RA	Respiratory distress	HP:0002098
1438	CSF2RA	Alveolar proteinosis	HP:0006517
1438	CSF2RA	Elevated carcinoembryonic antigen level	HP:0031029
1438	CSF2RA	Respiratory failure requiring assisted ventilation	HP:0004887
1438	CSF2RA	Failure to thrive in infancy	HP:0001531
1438	CSF2RA	Cough	HP:0012735
9631	NUP155	Atrial fibrillation	HP:0005110
9631	NUP155	Autosomal recessive inheritance	HP:0000007
9631	NUP155	Atrial flutter	HP:0004749
1439	CSF2RB	Hypoxemia	HP:0012418
1439	CSF2RB	Foam cells	HP:0003651
1439	CSF2RB	Tachypnea	HP:0002789
1439	CSF2RB	Autosomal recessive inheritance	HP:0000007
1439	CSF2RB	Autoimmune antibody positivity	HP:0030057
1439	CSF2RB	Restrictive ventilatory defect	HP:0002091
1439	CSF2RB	Respiratory insufficiency	HP:0002093
1439	CSF2RB	Acute infectious pneumonia	HP:0011949
1439	CSF2RB	Dyspnea	HP:0002094
1439	CSF2RB	Crackles	HP:0030830
1439	CSF2RB	Crazy paving pattern on pulmonary HRCT	HP:0025391
1439	CSF2RB	Tachycardia	HP:0001649
1439	CSF2RB	Respiratory distress	HP:0002098
1439	CSF2RB	Alveolar proteinosis	HP:0006517
1439	CSF2RB	Elevated carcinoembryonic antigen level	HP:0031029
1439	CSF2RB	Respiratory failure requiring assisted ventilation	HP:0004887
1439	CSF2RB	Failure to thrive in infancy	HP:0001531
1439	CSF2RB	Cough	HP:0012735
9632	SEC24C	Umbilical hernia	HP:0001537
9632	SEC24C	Tetany	HP:0001281
9632	SEC24C	Intestinal malrotation	HP:0002566
9632	SEC24C	Turricephaly	HP:0000262
9632	SEC24C	Cataract	HP:0000518
9632	SEC24C	Hypoplasia of the thymus	HP:0000778
9632	SEC24C	Abnormal aortic arch morphology	HP:0012303
9632	SEC24C	Malar flattening	HP:0000272
9632	SEC24C	Long face	HP:0000276
9632	SEC24C	Inguinal hernia	HP:0000023
9632	SEC24C	Polyhydramnios	HP:0001561
9632	SEC24C	Seborrheic dermatitis	HP:0001051
9632	SEC24C	Cryptorchidism	HP:0000028
9632	SEC24C	Hypopigmented skin patches	HP:0001053
9632	SEC24C	Epicanthus	HP:0000286
9632	SEC24C	Acne	HP:0001061
9632	SEC24C	Foot polydactyly	HP:0001829
9632	SEC24C	Hypospadias	HP:0000047
9632	SEC24C	Bowel incontinence	HP:0002607
9632	SEC24C	Specific learning disability	HP:0001328
9632	SEC24C	Asthma	HP:0002099
9632	SEC24C	Dysphasia	HP:0002357
9632	SEC24C	Hypothyroidism	HP:0000821
9632	SEC24C	Abnormal lung lobation	HP:0002101
9632	SEC24C	Microphthalmia	HP:0000568
9632	SEC24C	Cholelithiasis	HP:0001081
9632	SEC24C	Varicose veins	HP:0002619
9632	SEC24C	Impaired T cell function	HP:0005435
9632	SEC24C	Multiple suture craniosynostosis	HP:0011324
9632	SEC24C	Joint hyperflexibility	HP:0005692
9632	SEC24C	Hypertelorism	HP:0000316
9632	SEC24C	Hypoparathyroidism	HP:0000829
9632	SEC24C	Laryngomalacia	HP:0001601
9632	SEC24C	Short philtrum	HP:0000322
9632	SEC24C	Hyperthyroidism	HP:0000836
9632	SEC24C	Upslanted palpebral fissure	HP:0000582
9632	SEC24C	Nasal speech	HP:0001611
9632	SEC24C	Vesicoureteral reflux	HP:0000076
9632	SEC24C	Thrombocytopenia	HP:0001873
9632	SEC24C	Hypocalcemia	HP:0002901
9632	SEC24C	Long philtrum	HP:0000343
9632	SEC24C	Abnormality of the pharynx	HP:0000600
9632	SEC24C	Renal hypoplasia	HP:0000089
9632	SEC24C	Arthritis	HP:0001369
9632	SEC24C	Scoliosis	HP:0002650
9632	SEC24C	Micrognathia	HP:0000347
9632	SEC24C	Arrhinencephaly	HP:0002139
9632	SEC24C	Ventricular septal defect	HP:0001629
9632	SEC24C	Atrial septal defect	HP:0001631
9632	SEC24C	Tetralogy of Fallot	HP:0001636
9632	SEC24C	Occipital myelomeningocele	HP:0007271
9632	SEC24C	Abnormal pulmonary valve morphology	HP:0001641
9632	SEC24C	Attention deficit hyperactivity disorder	HP:0007018
9632	SEC24C	Patent ductus arteriosus	HP:0001643
9632	SEC24C	Chronic obstructive pulmonary disease	HP:0006510
9632	SEC24C	Abnormal aortic valve morphology	HP:0001646
9632	SEC24C	Retinal arteriolar tortuosity	HP:0001136
9632	SEC24C	Polycystic kidney dysplasia	HP:0000113
9632	SEC24C	Low-set ears	HP:0000369
9632	SEC24C	Posterior embryotoxon	HP:0000627
9632	SEC24C	Truncus arteriosus	HP:0001660
9632	SEC24C	Hypertensive crisis	HP:0100735
9632	SEC24C	Small earlobe	HP:0000385
9632	SEC24C	Abnormality of the uterus	HP:0000130
9632	SEC24C	Platybasia	HP:0002691
9632	SEC24C	Chronic otitis media	HP:0000389
9632	SEC24C	Bipolar affective disorder	HP:0007302
9632	SEC24C	Optic atrophy	HP:0000648
9632	SEC24C	Hand polydactyly	HP:0001161
9632	SEC24C	Overfolded helix	HP:0000396
9632	SEC24C	Arachnodactyly	HP:0001166
9632	SEC24C	Tricuspid atresia	HP:0011662
9632	SEC24C	Atelectasis	HP:0100750
9632	SEC24C	Schizophrenia	HP:0100753
9632	SEC24C	Autoimmunity	HP:0002960
9632	SEC24C	Conductive hearing impairment	HP:0000405
9632	SEC24C	Abnormality of the tonsils	HP:0100765
9632	SEC24C	Carious teeth	HP:0000670
9632	SEC24C	Bulbous nose	HP:0000414
9632	SEC24C	Narrow mouth	HP:0000160
9632	SEC24C	Immunodeficiency	HP:0002721
9632	SEC24C	Feeding difficulties in infancy	HP:0008872
9632	SEC24C	Prominent nasal bridge	HP:0000426
9632	SEC24C	Abnormality of dental enamel	HP:0000682
9632	SEC24C	Wide nasal bridge	HP:0000431
9632	SEC24C	Cleft palate	HP:0000175
9632	SEC24C	Patellar dislocation	HP:0002999
9632	SEC24C	Multiple renal cysts	HP:0005562
9632	SEC24C	Gastrointestinal hemorrhage	HP:0002239
9632	SEC24C	Choanal atresia	HP:0000453
9632	SEC24C	Aganglionic megacolon	HP:0002251
9632	SEC24C	Depressivity	HP:0000716
9632	SEC24C	Autism	HP:0000717
9632	SEC24C	Splenomegaly	HP:0001744
9632	SEC24C	Purpura	HP:0000979
9632	SEC24C	Short neck	HP:0000470
9632	SEC24C	Short stature	HP:0004322
9632	SEC24C	Seizures	HP:0001250
9632	SEC24C	Talipes equinovarus	HP:0001762
9632	SEC24C	Constipation	HP:0002019
9632	SEC24C	Anxiety	HP:0000739
9632	SEC24C	Failure to thrive	HP:0001508
9632	SEC24C	Gastroesophageal reflux	HP:0002020
9632	SEC24C	Muscular hypotonia	HP:0001252
9632	SEC24C	Strabismus	HP:0000486
9632	SEC24C	Anal atresia	HP:0002023
9632	SEC24C	Intrauterine growth retardation	HP:0001511
9632	SEC24C	Corneal neovascularization	HP:0011496
9632	SEC24C	Intellectual disability, mild	HP:0001256
9632	SEC24C	Obesity	HP:0001513
9632	SEC24C	Hydrocephalus	HP:0000238
9632	SEC24C	Downslanted palpebral fissures	HP:0000494
9632	SEC24C	Global developmental delay	HP:0001263
9632	SEC24C	Glaucoma	HP:0000501
9632	SEC24C	Telecanthus	HP:0000506
9632	SEC24C	Ptosis	HP:0000508
9632	SEC24C	Microcephaly	HP:0000252
9632	SEC24C	Abnormality of the thorax	HP:0000765
9632	SEC24C	Myalgia	HP:0003326
1441	CSF3R	Neutropenia	HP:0001875
1441	CSF3R	Autosomal recessive inheritance	HP:0000007
1441	CSF3R	Recurrent infections	HP:0002719
9636	ISG15	Immunodeficiency	HP:0002721
9636	ISG15	Seizures	HP:0001250
9636	ISG15	Basal ganglia calcification	HP:0002135
9636	ISG15	Autosomal recessive inheritance	HP:0000007
9636	ISG15	Recurrent mycobacterial infections	HP:0011274
9636	ISG15	Lymphadenopathy	HP:0002716
26022	TMEM98	Abnormal choroid morphology	HP:0000610
26022	TMEM98	High hypermetropia	HP:0008499
26022	TMEM98	Glaucoma	HP:0000501
26022	TMEM98	Strabismus	HP:0000486
26022	TMEM98	Autosomal dominant inheritance	HP:0000006
26022	TMEM98	Abnormality of retinal pigmentation	HP:0007703
26022	TMEM98	Microphthalmia	HP:0000568
26022	TMEM98	Optic disc drusen	HP:0012426
26022	TMEM98	Reduced visual acuity	HP:0007663
9639	ARHGEF10	Autosomal dominant inheritance	HP:0000006
9639	ARHGEF10	Onion bulb formation	HP:0003383
9639	ARHGEF10	Peripheral demyelination	HP:0011096
9639	ARHGEF10	Decreased nerve conduction velocity	HP:0000762
9639	ARHGEF10	Adult onset	HP:0003581
9640	ZNF592	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9640	ZNF592	Intellectual disability	HP:0001249
9640	ZNF592	Seizures	HP:0001250
9640	ZNF592	Ataxia	HP:0001251
9640	ZNF592	Nephrotic syndrome	HP:0000100
9640	ZNF592	Muscular hypotonia	HP:0001252
9640	ZNF592	Optic atrophy	HP:0000648
9640	ZNF592	Spasticity	HP:0001257
9640	ZNF592	Dysarthria	HP:0001260
9640	ZNF592	Progressive extrapyramidal movement disorder	HP:0007153
9640	ZNF592	Renal insufficiency	HP:0000083
9640	ZNF592	Motor delay	HP:0001270
9640	ZNF592	Abnormality of the skin	HP:0000951
9640	ZNF592	Microcephaly	HP:0000252
9640	ZNF592	Brain atrophy	HP:0012444
1453	CSNK1D	Early chronotype	HP:0031873
1453	CSNK1D	Sleep-wake cycle disturbance	HP:0006979
1453	CSNK1D	Migraine without aura	HP:0002083
1453	CSNK1D	Autosomal dominant inheritance	HP:0000006
1453	CSNK1D	Migraine	HP:0002076
1453	CSNK1D	Migraine with aura	HP:0002077
1457	CSNK2A1	Feeding difficulties	HP:0011968
1457	CSNK2A1	Absent speech	HP:0001344
1457	CSNK2A1	Atonic seizures	HP:0010819
1457	CSNK2A1	Clinodactyly	HP:0030084
1457	CSNK2A1	Brachydactyly	HP:0001156
1457	CSNK2A1	Autosomal dominant inheritance	HP:0000006
1457	CSNK2A1	Generalized hypotonia	HP:0001290
1457	CSNK2A1	Anteverted nares	HP:0000463
1457	CSNK2A1	Pachygyria	HP:0001302
1457	CSNK2A1	Simplified gyral pattern	HP:0009879
1457	CSNK2A1	Synophrys	HP:0000664
1457	CSNK2A1	High palate	HP:0000218
1457	CSNK2A1	Scoliosis	HP:0002650
1457	CSNK2A1	Decreased circulating IgG level	HP:0004315
1457	CSNK2A1	Micrognathia	HP:0000347
1457	CSNK2A1	Thin upper lip vermilion	HP:0000219
1457	CSNK2A1	Epicanthus	HP:0000286
1457	CSNK2A1	Decreased circulating IgA level	HP:0002720
1457	CSNK2A1	Intellectual disability	HP:0001249
1457	CSNK2A1	Constipation	HP:0002019
1457	CSNK2A1	Failure to thrive	HP:0001508
1457	CSNK2A1	Joint hypermobility	HP:0001382
1457	CSNK2A1	Attention deficit hyperactivity disorder	HP:0007018
1457	CSNK2A1	Delayed speech and language development	HP:0000750
1457	CSNK2A1	Wide nasal bridge	HP:0000431
1457	CSNK2A1	Global developmental delay	HP:0001263
1457	CSNK2A1	Low-set ears	HP:0000369
1457	CSNK2A1	Highly arched eyebrow	HP:0002553
1457	CSNK2A1	Microcephaly	HP:0000252
1457	CSNK2A1	Hypertelorism	HP:0000316
1457	CSNK2A1	Ptosis	HP:0000508
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	Hypermethioninemia	HP:0003235
9652	TTC37	Underdeveloped supraorbital ridges	HP:0009891
9652	TTC37	Curly hair	HP:0002212
9652	TTC37	Fine hair	HP:0002213
9652	TTC37	Abnormalities of placenta or umbilical cord	HP:0001194
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	Short stature	HP:0004322
9652	TTC37	Tetralogy of Fallot	HP:0001636
9652	TTC37	Failure to thrive	HP:0001508
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	Downslanted palpebral fissures	HP:0000494
9652	TTC37	Small for gestational age	HP:0001518
9652	TTC37	Low-set ears	HP:0000369
9652	TTC37	Cirrhosis	HP:0001394
9652	TTC37	Hepatic fibrosis	HP:0001395
9652	TTC37	Hepatic failure	HP:0001399
9652	TTC37	Galactosuria	HP:0012023
9652	TTC37	Intractable diarrhea	HP:0002041
9652	TTC37	Aortic regurgitation	HP:0001659
9652	TTC37	Large placenta	HP:0006267
9652	TTC37	Brittle hair	HP:0002299
9652	TTC37	Increased serum iron	HP:0003452
9652	TTC37	Renal cortical microcysts	HP:0004734
1462	VCAN	Myopia	HP:0000545
1462	VCAN	Visual field defect	HP:0001123
1462	VCAN	Autosomal dominant inheritance	HP:0000006
1462	VCAN	Cataract	HP:0000518
1462	VCAN	Optically empty vitreous	HP:0030663
1462	VCAN	Optic atrophy	HP:0000648
1462	VCAN	Retinal pigment epithelial atrophy	HP:0007722
1462	VCAN	Glaucoma	HP:0000501
1462	VCAN	Chorioretinal atrophy	HP:0000533
1462	VCAN	Exudative vitreoretinopathy	HP:0030490
1462	VCAN	Peripheral tractional retinal detachment	HP:0007643
1462	VCAN	Visual loss	HP:0000572
1462	VCAN	Vitreoretinopathy	HP:0007773
50615	IL21R	Immunodeficiency	HP:0002721
50615	IL21R	Cirrhosis	HP:0001394
50615	IL21R	Recurrent sinusitis	HP:0011108
50615	IL21R	Failure to thrive	HP:0001508
50615	IL21R	Autosomal recessive inheritance	HP:0000007
50615	IL21R	Cholangitis	HP:0030151
50615	IL21R	Hepatic failure	HP:0001399
50615	IL21R	Pneumonia	HP:0002090
50615	IL21R	Chronic diarrhea	HP:0002028
50615	IL21R	Bronchiectasis	HP:0002110
50615	IL21R	Chronic hepatitis due to cryptosporidium infection	HP:0200124
116150	NUS1	Autosomal dominant inheritance	HP:0000006
116150	NUS1	Autosomal recessive inheritance	HP:0000007
116150	NUS1	Optic atrophy	HP:0000648
116150	NUS1	Generalized hypotonia	HP:0001290
116150	NUS1	Cerebral atrophy	HP:0002059
116150	NUS1	Unsteady gait	HP:0002317
116150	NUS1	Rigidity	HP:0002063
116150	NUS1	Encephalopathy	HP:0001298
116150	NUS1	Gait ataxia	HP:0002066
116150	NUS1	Decreased fetal movement	HP:0001558
116150	NUS1	Hypodontia	HP:0000668
116150	NUS1	Abnormal myelination	HP:0012447
116150	NUS1	Retinal degeneration	HP:0000546
116150	NUS1	EEG abnormality	HP:0002353
116150	NUS1	Difficulty walking	HP:0002355
116150	NUS1	Dyskinesia	HP:0100660
116150	NUS1	Myoclonus	HP:0001336
116150	NUS1	Tremor	HP:0001337
116150	NUS1	Feeding difficulties	HP:0011968
116150	NUS1	Epileptic encephalopathy	HP:0200134
116150	NUS1	Developmental regression	HP:0002376
116150	NUS1	Cerebral cortical atrophy	HP:0002120
116150	NUS1	Generalized myoclonic seizures	HP:0002123
116150	NUS1	Limb hypertonia	HP:0002509
116150	NUS1	Autism	HP:0000717
116150	NUS1	Status epilepticus	HP:0002133
116150	NUS1	Hypsarrhythmia	HP:0002521
116150	NUS1	Autistic behavior	HP:0000729
116150	NUS1	Scoliosis	HP:0002650
116150	NUS1	High forehead	HP:0000348
116150	NUS1	EEG with multifocal slow activity	HP:0010844
116150	NUS1	Intellectual disability	HP:0001249
116150	NUS1	Short stature	HP:0004322
116150	NUS1	Ataxia	HP:0001251
116150	NUS1	Gastroesophageal reflux	HP:0002020
116150	NUS1	Failure to thrive	HP:0001508
116150	NUS1	Hypertrichosis	HP:0000998
116150	NUS1	Impulsivity	HP:0100710
116150	NUS1	Intrauterine growth retardation	HP:0001511
116150	NUS1	Spasticity	HP:0001257
116150	NUS1	Attention deficit hyperactivity disorder	HP:0007018
116150	NUS1	Dysarthria	HP:0001260
116150	NUS1	Hearing impairment	HP:0000365
116150	NUS1	Downslanted palpebral fissures	HP:0000494
116150	NUS1	Delayed speech and language development	HP:0000750
116150	NUS1	Global developmental delay	HP:0001263
116150	NUS1	Hyporeflexia	HP:0001265
116150	NUS1	Mental deterioration	HP:0001268
116150	NUS1	Poor head control	HP:0002421
116150	NUS1	Motor delay	HP:0001270
116150	NUS1	Abnormality of vision	HP:0000504
116150	NUS1	Abnormal corpus callosum morphology	HP:0001273
116150	NUS1	Congenital onset	HP:0003577
116150	NUS1	Visual impairment	HP:0000505
116150	NUS1	Microcephaly	HP:0000252
116150	NUS1	Ptosis	HP:0000508
116150	NUS1	Nystagmus	HP:0000639
91574	C12ORF65	Skeletal muscle atrophy	HP:0003202
91574	C12ORF65	Focal white matter lesions	HP:0007042
91574	C12ORF65	Tibialis muscle weakness	HP:0008963
91574	C12ORF65	Areflexia	HP:0001284
91574	C12ORF65	Autosomal recessive inheritance	HP:0000007
91574	C12ORF65	Optic atrophy	HP:0000648
91574	C12ORF65	Spastic paraparesis	HP:0002313
91574	C12ORF65	Generalized hypotonia	HP:0001290
91574	C12ORF65	Psychomotor retardation	HP:0025356
91574	C12ORF65	Peripheral axonal neuropathy	HP:0003477
91574	C12ORF65	Upper limb muscle weakness	HP:0003484
91574	C12ORF65	Paralytic ileus	HP:0002590
91574	C12ORF65	Hypoplasia of the corpus callosum	HP:0002079
91574	C12ORF65	Babinski sign	HP:0003487
91574	C12ORF65	Muscle weakness	HP:0001324
91574	C12ORF65	Steppage gait	HP:0003376
91574	C12ORF65	Difficulty walking	HP:0002355
91574	C12ORF65	Onion bulb formation	HP:0003383
91574	C12ORF65	Increased CSF lactate	HP:0002490
91574	C12ORF65	Cognitive impairment	HP:0100543
91574	C12ORF65	Hyperreflexia	HP:0001347
91574	C12ORF65	Foot dorsiflexor weakness	HP:0009027
91574	C12ORF65	Facial diplegia	HP:0001349
91574	C12ORF65	Developmental regression	HP:0002376
91574	C12ORF65	Abnormal facial shape	HP:0001999
91574	C12ORF65	Ophthalmoplegia	HP:0000602
91574	C12ORF65	Central scotoma	HP:0000603
91574	C12ORF65	Progressive	HP:0003676
91574	C12ORF65	Intellectual disability	HP:0001249
91574	C12ORF65	Talipes equinovarus	HP:0001762
91574	C12ORF65	Poor fine motor coordination	HP:0007010
91574	C12ORF65	Ataxia	HP:0001251
91574	C12ORF65	Failure to thrive	HP:0001508
91574	C12ORF65	Strabismus	HP:0000486
91574	C12ORF65	Increased serum lactate	HP:0002151
91574	C12ORF65	Intellectual disability, mild	HP:0001256
91574	C12ORF65	Spastic paraplegia	HP:0001258
91574	C12ORF65	Dysarthria	HP:0001260
91574	C12ORF65	Global developmental delay	HP:0001263
91574	C12ORF65	Reduced visual acuity	HP:0007663
91574	C12ORF65	Optic neuropathy	HP:0001138
91574	C12ORF65	Variable expressivity	HP:0003828
91574	C12ORF65	Arthrogryposis multiplex congenita	HP:0002804
91574	C12ORF65	Polyneuropathy	HP:0001271
91574	C12ORF65	Distal sensory impairment	HP:0002936
91574	C12ORF65	Decreased sensory nerve conduction velocity	HP:0003448
91574	C12ORF65	Visual impairment	HP:0000505
91574	C12ORF65	Clonus	HP:0002169
91574	C12ORF65	Ptosis	HP:0000508
91574	C12ORF65	Nystagmus	HP:0000639
26040	SETBP1	Umbilical hernia	HP:0001537
26040	SETBP1	Hypoplasia of first ribs	HP:0006657
26040	SETBP1	Hyperconvex nail	HP:0001795
26040	SETBP1	Wide anterior fontanel	HP:0000260
26040	SETBP1	Autosomal dominant inheritance	HP:0000006
26040	SETBP1	Anteriorly placed anus	HP:0001545
26040	SETBP1	Alacrima	HP:0000522
26040	SETBP1	Central hypothyroidism	HP:0011787
26040	SETBP1	Cerebral atrophy	HP:0002059
26040	SETBP1	Sacrococcygeal teratoma	HP:0030736
26040	SETBP1	Malar flattening	HP:0000272
26040	SETBP1	Nephrolithiasis	HP:0000787
26040	SETBP1	Large earlobe	HP:0009748
26040	SETBP1	Long face	HP:0000276
26040	SETBP1	Retrognathia	HP:0000278
26040	SETBP1	Inguinal hernia	HP:0000023
26040	SETBP1	Midface retrusion	HP:0011800
26040	SETBP1	Coarse facial features	HP:0000280
26040	SETBP1	Abnormality of the helix	HP:0011039
26040	SETBP1	Hypoplasia of the corpus callosum	HP:0002079
26040	SETBP1	Myeloid leukemia	HP:0012324
26040	SETBP1	Pulmonary hypoplasia	HP:0002089
26040	SETBP1	Bicornuate uterus	HP:0000813
26040	SETBP1	Scrotal hypoplasia	HP:0000046
26040	SETBP1	Hypospadias	HP:0000047
26040	SETBP1	Short 1st metacarpal	HP:0010034
26040	SETBP1	Respiratory distress	HP:0002098
26040	SETBP1	Pointed chin	HP:0000307
26040	SETBP1	Overlapping toe	HP:0001845
26040	SETBP1	Micropenis	HP:0000054
26040	SETBP1	Hypoplastic labia majora	HP:0000059
26040	SETBP1	Hypertelorism	HP:0000316
26040	SETBP1	Overlapping fingers	HP:0010557
26040	SETBP1	Hypoplastic labia minora	HP:0000064
26040	SETBP1	Teratoma	HP:0009792
26040	SETBP1	Absent speech	HP:0001344
26040	SETBP1	Laryngomalacia	HP:0001601
26040	SETBP1	Short philtrum	HP:0000322
26040	SETBP1	Hepatoblastoma	HP:0002884
26040	SETBP1	Abnormality of the ureter	HP:0000069
26040	SETBP1	Vocal cord paralysis	HP:0001605
26040	SETBP1	Ventriculomegaly	HP:0002119
26040	SETBP1	Ureteral stenosis	HP:0000071
26040	SETBP1	Ependymoma	HP:0002888
26040	SETBP1	Cerebral cortical atrophy	HP:0002120
26040	SETBP1	Hydroureter	HP:0000072
26040	SETBP1	Facial hemangioma	HP:0000329
26040	SETBP1	Shallow orbits	HP:0000586
26040	SETBP1	Splenopancreatic fusion	HP:0032075
26040	SETBP1	Broad forehead	HP:0000337
26040	SETBP1	Sloping forehead	HP:0000340
26040	SETBP1	Narrow forehead	HP:0000341
26040	SETBP1	Wormian bones	HP:0002645
26040	SETBP1	Epileptic spasms	HP:0011097
26040	SETBP1	Abnormal heart morphology	HP:0001627
26040	SETBP1	Micrognathia	HP:0000347
26040	SETBP1	High forehead	HP:0000348
26040	SETBP1	Atrial septal defect	HP:0001631
26040	SETBP1	Camptodactyly	HP:0012385
26040	SETBP1	Hypoplastic pubic bone	HP:0003173
26040	SETBP1	Attention deficit hyperactivity disorder	HP:0007018
26040	SETBP1	Renal cyst	HP:0000107
26040	SETBP1	Nephroblastoma	HP:0002667
26040	SETBP1	Short sternum	HP:0000879
26040	SETBP1	Low-set ears	HP:0000369
26040	SETBP1	Broad ribs	HP:0000885
26040	SETBP1	Abnormal cochlea morphology	HP:0000375
26040	SETBP1	Metopic suture patent to nasal root	HP:0005495
26040	SETBP1	Abnormality of the clavicle	HP:0000889
26040	SETBP1	Long clavicles	HP:0000890
26040	SETBP1	Short nose	HP:0003196
26040	SETBP1	Hydronephrosis	HP:0000126
26040	SETBP1	Opisthotonus	HP:0002179
26040	SETBP1	Recurrent pneumonia	HP:0006532
26040	SETBP1	Sclerosis of skull base	HP:0002694
26040	SETBP1	Postaxial hand polydactyly	HP:0001162
26040	SETBP1	Widely patent fontanelles and sutures	HP:0004492
26040	SETBP1	Choroid plexus cyst	HP:0002190
26040	SETBP1	Aplasia/Hypoplasia of the pubic bone	HP:0009104
26040	SETBP1	Synophrys	HP:0000664
26040	SETBP1	Wide mouth	HP:0000154
26040	SETBP1	Short distal phalanx of finger	HP:0009882
26040	SETBP1	Radioulnar synostosis	HP:0002974
26040	SETBP1	Macroglossia	HP:0000158
26040	SETBP1	Depressed nasal bridge	HP:0005280
26040	SETBP1	Infantile sensorineural hearing impairment	HP:0008610
26040	SETBP1	Tibial bowing	HP:0002982
26040	SETBP1	Dental crowding	HP:0000678
26040	SETBP1	Thickened cortex of long bones	HP:0000935
26040	SETBP1	Abnormality of the gingiva	HP:0000168
26040	SETBP1	Stiff elbow	HP:0025259
26040	SETBP1	Delayed eruption of teeth	HP:0000684
26040	SETBP1	Abnormality of the stapes	HP:0008628
26040	SETBP1	Single transverse palmar crease	HP:0000954
26040	SETBP1	Arnold-Chiari type I malformation	HP:0007099
26040	SETBP1	Broad alveolar ridges	HP:0000187
26040	SETBP1	Narrow palate	HP:0000189
26040	SETBP1	Kyphoscoliosis	HP:0002751
26040	SETBP1	Profound global developmental delay	HP:0012736
26040	SETBP1	Postnatal growth retardation	HP:0008897
26040	SETBP1	Choanal stenosis	HP:0000452
26040	SETBP1	Annular pancreas	HP:0001734
26040	SETBP1	Broad nasal tip	HP:0000455
26040	SETBP1	Generalized hypertrichosis	HP:0004554
26040	SETBP1	Aganglionic megacolon	HP:0002251
26040	SETBP1	Abnormality of the nasopharynx	HP:0001739
26040	SETBP1	Neural tube defect	HP:0045005
26040	SETBP1	Gastrostomy tube feeding in infancy	HP:0011471
26040	SETBP1	Anteverted nares	HP:0000463
26040	SETBP1	Prominent forehead	HP:0011220
26040	SETBP1	Short neck	HP:0000470
26040	SETBP1	Frontal bossing	HP:0002007
26040	SETBP1	Hypsarrhythmia	HP:0002521
26040	SETBP1	High palate	HP:0000218
26040	SETBP1	Thin upper lip vermilion	HP:0000219
26040	SETBP1	Dysphagia	HP:0002015
26040	SETBP1	Streak ovary	HP:0010464
26040	SETBP1	Intellectual disability	HP:0001249
26040	SETBP1	Seizures	HP:0001250
26040	SETBP1	Talipes equinovarus	HP:0001762
26040	SETBP1	Failure to thrive	HP:0001508
26040	SETBP1	Hypoplasia of the epiglottis	HP:0005349
26040	SETBP1	Hypertrichosis	HP:0000998
26040	SETBP1	Spasticity	HP:0001257
26040	SETBP1	Downslanted palpebral fissures	HP:0000494
26040	SETBP1	Wide distal femoral metaphysis	HP:0006387
26040	SETBP1	Motor delay	HP:0001270
26040	SETBP1	Increased density of long bones	HP:0006392
26040	SETBP1	Brachycephaly	HP:0000248
26040	SETBP1	Visual impairment	HP:0000505
26040	SETBP1	Failure to thrive in infancy	HP:0001531
26040	SETBP1	Ptosis	HP:0000508
26040	SETBP1	Hypoplastic nipples	HP:0002557
9657	IQCB1	Abnormal electroretinogram	HP:0000512
9657	IQCB1	Cataract	HP:0000518
9657	IQCB1	Autosomal recessive inheritance	HP:0000007
9657	IQCB1	Heterogeneous	HP:0001425
9657	IQCB1	Premature ovarian insufficiency	HP:0008209
9657	IQCB1	Progressive visual loss	HP:0000529
9657	IQCB1	Cone-shaped epiphysis	HP:0010579
9657	IQCB1	Hemiplegia/hemiparesis	HP:0004374
9657	IQCB1	Abnormality of retinal pigmentation	HP:0007703
9657	IQCB1	Nephronophthisis	HP:0000090
9657	IQCB1	Abnormality of neuronal migration	HP:0002269
9657	IQCB1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
9657	IQCB1	Intellectual disability	HP:0001249
9657	IQCB1	Short stature	HP:0004322
9657	IQCB1	Seizures	HP:0001250
9657	IQCB1	Ataxia	HP:0001251
9657	IQCB1	Encephalocele	HP:0002084
9657	IQCB1	Muscular hypotonia	HP:0001252
9657	IQCB1	Retinal dystrophy	HP:0000556
9657	IQCB1	Hearing impairment	HP:0000365
9657	IQCB1	Global developmental delay	HP:0001263
9657	IQCB1	Keratoconus	HP:0000563
9657	IQCB1	Congenital hepatic fibrosis	HP:0002612
9657	IQCB1	Severely reduced visual acuity	HP:0001141
9657	IQCB1	Hypertension	HP:0000822
9657	IQCB1	Abnormality of the optic disc	HP:0012795
9657	IQCB1	Abnormality of bone mineral density	HP:0004348
9657	IQCB1	Rod-cone dystrophy	HP:0000510
9657	IQCB1	Stage 5 chronic kidney disease	HP:0003774
9657	IQCB1	Nystagmus	HP:0000639
50617	ATP6V0A4	Failure to thrive	HP:0001508
50617	ATP6V0A4	Distal renal tubular acidosis	HP:0008341
50617	ATP6V0A4	Growth delay	HP:0001510
50617	ATP6V0A4	Autosomal recessive inheritance	HP:0000007
50617	ATP6V0A4	Dehydration	HP:0001944
50617	ATP6V0A4	Nephrocalcinosis	HP:0000121
50617	ATP6V0A4	Bilateral sensorineural hearing impairment	HP:0008619
50617	ATP6V0A4	Vomiting	HP:0002013
140732	SUN5	Sperm mid-piece anomaly	HP:0012867
140732	SUN5	Male infertility	HP:0003251
140732	SUN5	Infertility	HP:0000789
140732	SUN5	Acephalic spermatozoa	HP:0012869
140732	SUN5	Autosomal recessive inheritance	HP:0000007
140732	SUN5	Oligospermia	HP:0000798
140732	SUN5	Reduced sperm motility	HP:0012207
9662	CEP135	Short stature	HP:0004322
9662	CEP135	Hyperreflexia	HP:0001347
9662	CEP135	Hypoplasia of the frontal lobes	HP:0007333
9662	CEP135	Upslanted palpebral fissure	HP:0000582
9662	CEP135	Autosomal recessive inheritance	HP:0000007
9662	CEP135	Ventriculomegaly	HP:0002119
9662	CEP135	Gray matter heterotopia	HP:0002282
9662	CEP135	Vesicoureteral reflux	HP:0000076
9662	CEP135	Global developmental delay	HP:0001263
9662	CEP135	Intellectual disability, severe	HP:0010864
9662	CEP135	Sloping forehead	HP:0000340
9662	CEP135	Retrognathia	HP:0000278
9662	CEP135	Pachygyria	HP:0001302
9662	CEP135	Congenital onset	HP:0003577
9662	CEP135	Unilateral renal agenesis	HP:0000122
9662	CEP135	Agenesis of corpus callosum	HP:0001274
9662	CEP135	Thin upper lip vermilion	HP:0000219
9662	CEP135	Microcephaly	HP:0000252
9662	CEP135	Abnormal cortical bone morphology	HP:0003103
1471	CST3	Generalized amyloid deposition	HP:0003216
1471	CST3	Stroke	HP:0001297
1471	CST3	Cerebral amyloid angiopathy	HP:0011970
1471	CST3	Death in early adulthood	HP:0100613
1471	CST3	Dementia	HP:0000726
1471	CST3	Autosomal dominant inheritance	HP:0000006
1471	CST3	Intracranial hemorrhage	HP:0002170
1471	CST3	Cerebral hemorrhage	HP:0001342
26047	CNTNAP2	Absent speech	HP:0001344
26047	CNTNAP2	Intellectual disability	HP:0001249
26047	CNTNAP2	Poor speech	HP:0002465
26047	CNTNAP2	Seizures	HP:0001250
26047	CNTNAP2	Reduced tendon reflexes	HP:0001315
26047	CNTNAP2	Ataxia	HP:0001251
26047	CNTNAP2	Spasticity	HP:0001257
26047	CNTNAP2	Aggressive behavior	HP:0000718
26047	CNTNAP2	Focal cortical dysplasia	HP:0032046
26047	CNTNAP2	Global developmental delay	HP:0001263
26047	CNTNAP2	Hyperactivity	HP:0000752
26047	CNTNAP2	EEG abnormality	HP:0002353
26047	CNTNAP2	Delayed gross motor development	HP:0002194
26047	CNTNAP2	Generalized-onset seizure	HP:0002197
26047	CNTNAP2	Progressive language deterioration	HP:0007064
26047	CNTNAP2	Stereotypy	HP:0000733
26047	CNTNAP2	Impaired social interactions	HP:0000735
26047	CNTNAP2	Language impairment	HP:0002463
26047	CNTNAP2	Focal-onset seizure	HP:0007359
9663	LPIN2	Hepatomegaly	HP:0002240
9663	LPIN2	Pulmonary infiltrates	HP:0002113
9663	LPIN2	Osteomyelitis	HP:0002754
9663	LPIN2	Autosomal recessive inheritance	HP:0000007
9663	LPIN2	Edema	HP:0000969
9663	LPIN2	Congenital hypoplastic anemia	HP:0004810
9663	LPIN2	Headache	HP:0002315
9663	LPIN2	Arthralgia	HP:0002829
9663	LPIN2	Microcytic anemia	HP:0001935
9663	LPIN2	Splenomegaly	HP:0001744
9663	LPIN2	Metaphyseal irregularity	HP:0003025
9663	LPIN2	Glomerulopathy	HP:0100820
9663	LPIN2	Fever	HP:0001945
9663	LPIN2	Flexion contracture	HP:0001371
9663	LPIN2	Microscopic hematuria	HP:0002907
9663	LPIN2	Bone pain	HP:0002653
9663	LPIN2	Proteinuria	HP:0000093
9663	LPIN2	Synovitis	HP:0100769
9663	LPIN2	Papule	HP:0200034
9663	LPIN2	Recurrent fever	HP:0001954
9663	LPIN2	Increased susceptibility to fractures	HP:0002659
9663	LPIN2	Pustule	HP:0200039
9663	LPIN2	Failure to thrive	HP:0001508
9663	LPIN2	Acne	HP:0001061
9663	LPIN2	Growth delay	HP:0001510
9663	LPIN2	Cachexia	HP:0004326
9663	LPIN2	Malabsorption	HP:0002024
9663	LPIN2	Hypochromic microcytic anemia	HP:0004840
9663	LPIN2	Inflammatory abnormality of the skin	HP:0011123
9663	LPIN2	Leukocytosis	HP:0001974
9663	LPIN2	Abnormality of bone marrow cell morphology	HP:0005561
9663	LPIN2	Increased bone mineral density	HP:0011001
9663	LPIN2	Myalgia	HP:0003326
9663	LPIN2	Cough	HP:0012735
83394	PITPNM3	Macular degeneration	HP:0000608
83394	PITPNM3	Cone/cone-rod dystrophy	HP:0000548
83394	PITPNM3	Photophobia	HP:0000613
83394	PITPNM3	Autosomal dominant inheritance	HP:0000006
83394	PITPNM3	Nyctalopia	HP:0000662
83394	PITPNM3	Color vision defect	HP:0000551
83394	PITPNM3	Abnormality of retinal pigmentation	HP:0007703
83394	PITPNM3	Visual impairment	HP:0000505
83394	PITPNM3	Reduced visual acuity	HP:0007663
1475	CSTA	Ichthyosis	HP:0008064
1475	CSTA	Papule	HP:0200034
1475	CSTA	Abnormal blistering of the skin	HP:0008066
1475	CSTA	Orthokeratosis	HP:0040162
1475	CSTA	Eczema	HP:0000964
1475	CSTA	Epidermal acanthosis	HP:0025092
1475	CSTA	Autosomal recessive inheritance	HP:0000007
1475	CSTA	Allergy	HP:0012393
1475	CSTA	Skin erosion	HP:0200041
1475	CSTA	High hypermetropia	HP:0008499
1475	CSTA	Lichenification	HP:0100725
1475	CSTA	Nail dystrophy	HP:0008404
1475	CSTA	Excessive wrinkling of palmar skin	HP:0007605
1475	CSTA	Palmoplantar keratoderma	HP:0000982
1475	CSTA	Hyperpigmentation of the skin	HP:0000953
1475	CSTA	Scaling skin	HP:0040189
1475	CSTA	Macule	HP:0012733
1475	CSTA	Erythema	HP:0010783
1476	CSTB	Cutaneous photosensitivity	HP:0000992
1476	CSTB	Intention tremor	HP:0002080
1476	CSTB	Intellectual disability	HP:0001249
1476	CSTB	Ataxia	HP:0001251
1476	CSTB	Autosomal recessive inheritance	HP:0000007
1476	CSTB	Absence seizure	HP:0002121
1476	CSTB	Dysarthria	HP:0001260
1476	CSTB	Mental deterioration	HP:0001268
1476	CSTB	Generalized tonic-clonic seizures	HP:0002069
1476	CSTB	Dementia	HP:0000726
1476	CSTB	Limb ataxia	HP:0002070
1476	CSTB	Myoclonus	HP:0001336
1476	CSTB	EEG with polyspike wave complexes	HP:0002392
1476	CSTB	Morning myoclonic jerks	HP:0007000
50628	GEMIN4	Absent speech	HP:0001344
50628	GEMIN4	Delayed myelination	HP:0012448
50628	GEMIN4	Seizures	HP:0001250
50628	GEMIN4	Gastroesophageal reflux	HP:0002020
50628	GEMIN4	Cataract	HP:0000518
50628	GEMIN4	Optic atrophy	HP:0000648
50628	GEMIN4	Infantile onset	HP:0003593
50628	GEMIN4	Inability to walk	HP:0002540
50628	GEMIN4	Global developmental delay	HP:0001263
50628	GEMIN4	Calcinosis	HP:0003761
50628	GEMIN4	Poor head control	HP:0002421
50628	GEMIN4	Renal hypoplasia	HP:0000089
50628	GEMIN4	Aminoaciduria	HP:0003355
50628	GEMIN4	Hydronephrosis	HP:0000126
50628	GEMIN4	Dysphagia	HP:0002015
26053	AUTS2	Feeding difficulties	HP:0011968
26053	AUTS2	Short philtrum	HP:0000322
26053	AUTS2	Autosomal dominant inheritance	HP:0000006
26053	AUTS2	Short palpebral fissure	HP:0012745
26053	AUTS2	Wide nasal base	HP:0012810
26053	AUTS2	Autism	HP:0000717
26053	AUTS2	Abnormal facial shape	HP:0001999
26053	AUTS2	Scoliosis	HP:0002650
26053	AUTS2	Wide mouth	HP:0000154
26053	AUTS2	Prominent nasal tip	HP:0005274
26053	AUTS2	Narrow mouth	HP:0000160
26053	AUTS2	Intellectual disability	HP:0001249
26053	AUTS2	Short stature	HP:0004322
26053	AUTS2	Strabismus	HP:0000486
26053	AUTS2	Decreased palmar creases	HP:0006184
26053	AUTS2	Downslanted palpebral fissures	HP:0000494
26053	AUTS2	Delayed speech and language development	HP:0000750
26053	AUTS2	Small for gestational age	HP:0001518
26053	AUTS2	Global developmental delay	HP:0001263
26053	AUTS2	Low-set ears	HP:0000369
26053	AUTS2	Cerebral palsy	HP:0100021
26053	AUTS2	Arthrogryposis multiplex congenita	HP:0002804
26053	AUTS2	Thick vermilion border	HP:0012471
26053	AUTS2	Kyphosis	HP:0002808
26053	AUTS2	Brachycephaly	HP:0000248
26053	AUTS2	Highly arched eyebrow	HP:0002553
26053	AUTS2	Hypertelorism	HP:0000316
26053	AUTS2	Ptosis	HP:0000508
26053	AUTS2	Hypertonia	HP:0001276
26053	AUTS2	Microcephaly	HP:0000252
26053	AUTS2	Thick eyebrow	HP:0000574
222662	LHFPL5	Autosomal recessive inheritance	HP:0000007
222662	LHFPL5	Bilateral sensorineural hearing impairment	HP:0008619
1482	NKX2-5	Umbilical hernia	HP:0001537
1482	NKX2-5	Aortic valve atresia	HP:0010883
1482	NKX2-5	Brachydactyly	HP:0001156
1482	NKX2-5	Transposition of the great arteries	HP:0001669
1482	NKX2-5	Autosomal dominant inheritance	HP:0000006
1482	NKX2-5	Autosomal recessive inheritance	HP:0000007
1482	NKX2-5	Abnormal cardiac septum morphology	HP:0001671
1482	NKX2-5	Proptosis	HP:0000520
1482	NKX2-5	Complete atrioventricular canal defect	HP:0001674
1482	NKX2-5	Dolichocephaly	HP:0000268
1482	NKX2-5	Hypoplastic aortic arch	HP:0012304
1482	NKX2-5	Coarctation of aorta	HP:0001680
1482	NKX2-5	Subvalvular aortic stenosis	HP:0001682
1482	NKX2-5	Abnormality of metabolism/homeostasis	HP:0001939
1482	NKX2-5	Secundum atrial septal defect	HP:0001684
1482	NKX2-5	Coarse facial features	HP:0000280
1482	NKX2-5	Arrhythmia	HP:0011675
1482	NKX2-5	Cryptorchidism	HP:0000028
1482	NKX2-5	Aortic valve calcification	HP:0004380
1482	NKX2-5	Macroglossia	HP:0000158
1482	NKX2-5	Hypoplastic left heart	HP:0004383
1482	NKX2-5	Postaxial polydactyly	HP:0100259
1482	NKX2-5	Underdeveloped supraorbital ridges	HP:0009891
1482	NKX2-5	Mitral atresia	HP:0011560
1482	NKX2-5	Muscle weakness	HP:0001324
1482	NKX2-5	Left ventricular hypertrophy	HP:0001712
1482	NKX2-5	Hypersomnia	HP:0100786
1482	NKX2-5	Hypothyroidism	HP:0000821
1482	NKX2-5	Mitral stenosis	HP:0001718
1482	NKX2-5	Hypertension	HP:0000822
1482	NKX2-5	Double outlet right ventricle	HP:0001719
1482	NKX2-5	Jaundice	HP:0000952
1482	NKX2-5	Hypertelorism	HP:0000316
1482	NKX2-5	Ectopic thyroid	HP:0100028
1482	NKX2-5	Bundle branch block	HP:0011710
1482	NKX2-5	Pulmonary artery stenosis	HP:0004415
1482	NKX2-5	Feeding difficulties	HP:0011968
1482	NKX2-5	Heart murmur	HP:0030148
1482	NKX2-5	Ascending aortic dissection	HP:0004933
1482	NKX2-5	Abdominal distention	HP:0003270
1482	NKX2-5	Broad hallux	HP:0010055
1482	NKX2-5	Pulmonary artery atresia	HP:0004935
1482	NKX2-5	Maternal diabetes	HP:0009800
1482	NKX2-5	Broad forehead	HP:0000337
1482	NKX2-5	Congenital hypothyroidism	HP:0000851
1482	NKX2-5	Prolonged PR interval	HP:0012248
1482	NKX2-5	Fatigue	HP:0012378
1482	NKX2-5	Ventricular septal defect	HP:0001629
1482	NKX2-5	Atrial septal defect	HP:0001631
1482	NKX2-5	Abnormal left ventricular outflow tract morphology	HP:0011103
1482	NKX2-5	Thoracic aorta calcification	HP:0004962
1482	NKX2-5	Short stature	HP:0004322
1482	NKX2-5	Constipation	HP:0002019
1482	NKX2-5	Abnormality of chromosome segregation	HP:0002916
1482	NKX2-5	Tetralogy of Fallot	HP:0001636
1482	NKX2-5	Muscular hypotonia	HP:0001252
1482	NKX2-5	Thyroid hypoplasia	HP:0005990
1482	NKX2-5	Growth delay	HP:0001510
1482	NKX2-5	Intrauterine growth retardation	HP:0001511
1482	NKX2-5	Intellectual disability, progressive	HP:0006887
1482	NKX2-5	Thin vermilion border	HP:0000233
1482	NKX2-5	Patent ductus arteriosus	HP:0001643
1482	NKX2-5	Bicuspid aortic valve	HP:0001647
1482	NKX2-5	Large fontanelles	HP:0000239
1482	NKX2-5	Global developmental delay	HP:0001263
1482	NKX2-5	Intellectual disability, severe	HP:0010864
1482	NKX2-5	Abnormal nasal morphology	HP:0005105
1482	NKX2-5	Clinodactyly of the 5th finger	HP:0004209
1482	NKX2-5	Aortic valve stenosis	HP:0001650
1482	NKX2-5	Preauricular pit	HP:0004467
1482	NKX2-5	Atrial fibrillation	HP:0005110
1482	NKX2-5	Aortic arch aneurysm	HP:0005113
1482	NKX2-5	Aortic regurgitation	HP:0001659
1482	NKX2-5	Truncus arteriosus	HP:0001660
1482	NKX2-5	Thyroid agenesis	HP:0008191
26058	GIGYF2	Akinesia	HP:0002304
26058	GIGYF2	Muscle spasm	HP:0003394
26058	GIGYF2	Cerebral cortical atrophy	HP:0002120
26058	GIGYF2	Agitation	HP:0000713
26058	GIGYF2	Monotonic speech	HP:0031435
26058	GIGYF2	Diplopia	HP:0000651
26058	GIGYF2	Depressivity	HP:0000716
26058	GIGYF2	Rigidity	HP:0002063
26058	GIGYF2	Schizophrenia	HP:0100753
26058	GIGYF2	Resting tremor	HP:0002322
26058	GIGYF2	Hypomimic face	HP:0000338
26058	GIGYF2	Bradykinesia	HP:0002067
26058	GIGYF2	Dementia	HP:0000726
26058	GIGYF2	Lewy bodies	HP:0100315
26058	GIGYF2	Spastic/hyperactive bladder	HP:0005340
26058	GIGYF2	Dysphagia	HP:0002015
26058	GIGYF2	Weight loss	HP:0001824
26058	GIGYF2	Chronic constipation	HP:0012450
26058	GIGYF2	Apathy	HP:0000741
26058	GIGYF2	Impulsivity	HP:0100710
26058	GIGYF2	Low frustration tolerance	HP:0000744
26058	GIGYF2	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
26058	GIGYF2	Dystonia	HP:0001332
26058	GIGYF2	Dyskinesia	HP:0100660
26058	GIGYF2	Frequent falls	HP:0002359
26058	GIGYF2	Sleep disturbance	HP:0002360
26058	GIGYF2	Hyposmia	HP:0004409
26058	GIGYF2	Shuffling gait	HP:0002362
26058	GIGYF2	Gliosis	HP:0002171
26058	GIGYF2	Postural instability	HP:0002172
26058	GIGYF2	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
26058	GIGYF2	Visual hallucinations	HP:0002367
1487	CTBP1	Preauricular skin tag	HP:0000384
1487	CTBP1	Craniofacial asymmetry	HP:0004484
1487	CTBP1	Hemangioma	HP:0001028
1487	CTBP1	Vertebral fusion	HP:0002948
1487	CTBP1	Autosomal dominant inheritance	HP:0000006
1487	CTBP1	Rib fusion	HP:0000902
1487	CTBP1	Proptosis	HP:0000520
1487	CTBP1	Prominent glabella	HP:0002057
1487	CTBP1	Generalized hypotonia	HP:0001290
1487	CTBP1	Hip dislocation	HP:0002827
1487	CTBP1	Gait ataxia	HP:0002066
1487	CTBP1	Severe postnatal growth retardation	HP:0008850
1487	CTBP1	Stenosis of the external auditory canal	HP:0000402
1487	CTBP1	Split hand	HP:0001171
1487	CTBP1	Hyperconvex fingernails	HP:0001812
1487	CTBP1	Conductive hearing impairment	HP:0000405
1487	CTBP1	Retrognathia	HP:0000278
1487	CTBP1	Decreased fetal movement	HP:0001558
1487	CTBP1	Aplasia of the uterus	HP:0000151
1487	CTBP1	Sensorineural hearing impairment	HP:0000407
1487	CTBP1	Preaxial hand polydactyly	HP:0001177
1487	CTBP1	Downturned corners of mouth	HP:0002714
1487	CTBP1	Cryptorchidism	HP:0000028
1487	CTBP1	Hypodontia	HP:0000668
1487	CTBP1	Epicanthus	HP:0000286
1487	CTBP1	Radioulnar synostosis	HP:0002974
1487	CTBP1	Sporadic	HP:0003745
1487	CTBP1	Immunodeficiency	HP:0002721
1487	CTBP1	Rieger anomaly	HP:0000558
1487	CTBP1	Wide nasal bridge	HP:0000431
1487	CTBP1	Cleft palate	HP:0000175
1487	CTBP1	Hypospadias	HP:0000047
1487	CTBP1	Metatarsus adductus	HP:0001840
1487	CTBP1	EEG abnormality	HP:0002353
1487	CTBP1	Preaxial foot polydactyly	HP:0001841
1487	CTBP1	Short thumb	HP:0009778
1487	CTBP1	Absent septum pellucidum	HP:0001331
1487	CTBP1	Biliary tract abnormality	HP:0001080
1487	CTBP1	Single transverse palmar crease	HP:0000954
1487	CTBP1	Malrotation of small bowel	HP:0004794
1487	CTBP1	Precocious puberty	HP:0000826
1487	CTBP1	Short upper lip	HP:0000188
1487	CTBP1	Hypertelorism	HP:0000316
1487	CTBP1	Convex nasal ridge	HP:0000444
1487	CTBP1	Ectopia pupillae	HP:0009918
1487	CTBP1	Delayed skeletal maturation	HP:0002750
1487	CTBP1	Sacral dimple	HP:0000960
1487	CTBP1	Short philtrum	HP:0000322
1487	CTBP1	Periventricular cysts	HP:0007109
1487	CTBP1	Ventriculomegaly	HP:0002119
1487	CTBP1	Cleft upper lip	HP:0000204
1487	CTBP1	Webbed neck	HP:0000465
1487	CTBP1	Accessory spleen	HP:0001747
1487	CTBP1	Cavum septum pellucidum	HP:0002389
1487	CTBP1	Frontal bossing	HP:0002007
1487	CTBP1	Abnormal sternal ossification	HP:0011863
1487	CTBP1	Aplasia cutis congenita of scalp	HP:0007385
1487	CTBP1	Scoliosis	HP:0002650
1487	CTBP1	Micrognathia	HP:0000347
1487	CTBP1	High forehead	HP:0000348
1487	CTBP1	Stereotypy	HP:0000733
1487	CTBP1	Ventricular septal defect	HP:0001629
1487	CTBP1	Atrial septal defect	HP:0001631
1487	CTBP1	Tethered cord	HP:0002144
1487	CTBP1	Intellectual disability	HP:0001249
1487	CTBP1	Seizures	HP:0001250
1487	CTBP1	Talipes equinovarus	HP:0001762
1487	CTBP1	Short stature	HP:0004322
1487	CTBP1	Iris coloboma	HP:0000612
1487	CTBP1	Failure to thrive	HP:0001508
1487	CTBP1	Gastroesophageal reflux	HP:0002020
1487	CTBP1	Strabismus	HP:0000486
1487	CTBP1	Intrauterine growth retardation	HP:0001511
1487	CTBP1	Hip dysplasia	HP:0001385
1487	CTBP1	Pseudoepiphyses of the metacarpals	HP:0009193
1487	CTBP1	Inability to walk	HP:0002540
1487	CTBP1	Delayed speech and language development	HP:0000750
1487	CTBP1	Hydrocephalus	HP:0000238
1487	CTBP1	Small for gestational age	HP:0001518
1487	CTBP1	Global developmental delay	HP:0001263
1487	CTBP1	Intellectual disability, severe	HP:0010864
1487	CTBP1	Abnormal form of the vertebral bodies	HP:0003312
1487	CTBP1	Low posterior hairline	HP:0002162
1487	CTBP1	Preauricular pit	HP:0004467
1487	CTBP1	Motor delay	HP:0001270
1487	CTBP1	Cerebellar atrophy	HP:0001272
1487	CTBP1	Kyphosis	HP:0002808
1487	CTBP1	Highly arched eyebrow	HP:0002553
1487	CTBP1	Abnormality of the pinna	HP:0000377
1487	CTBP1	Agenesis of corpus callosum	HP:0001274
1487	CTBP1	Ptosis	HP:0000508
1487	CTBP1	Microcephaly	HP:0000252
1487	CTBP1	Short hallux	HP:0010109
1487	CTBP1	Nystagmus	HP:0000639
1487	CTBP1	Rib segmentation abnormalities	HP:0006655
1487	CTBP1	Decreased muscle mass	HP:0003199
50640	PNPLA8	Postnatal growth retardation	HP:0008897
50640	PNPLA8	Seizures	HP:0001250
50640	PNPLA8	Increased serum lactate	HP:0002151
50640	PNPLA8	Autosomal recessive inheritance	HP:0000007
50640	PNPLA8	Infantile onset	HP:0003593
50640	PNPLA8	Spasticity	HP:0001257
50640	PNPLA8	Generalized hypotonia	HP:0001290
50640	PNPLA8	Episodic vomiting	HP:0002572
50640	PNPLA8	Muscle weakness	HP:0001324
50640	PNPLA8	Dysarthria	HP:0001260
50640	PNPLA8	Focal impaired awareness seizure	HP:0002384
50640	PNPLA8	Toe walking	HP:0040083
50640	PNPLA8	Dystonia	HP:0001332
50640	PNPLA8	Hyperalaninemia	HP:0003348
50640	PNPLA8	Hemiparesis	HP:0001269
50640	PNPLA8	Increased serum pyruvate	HP:0003542
50640	PNPLA8	Moderate sensorineural hearing impairment	HP:0008504
50640	PNPLA8	Lactic acidosis	HP:0003128
50640	PNPLA8	Mitochondrial myopathy	HP:0003737
50640	PNPLA8	Fatigue	HP:0012378
50640	PNPLA8	Progressive	HP:0003676
50640	PNPLA8	Dysmetria	HP:0001310
50640	PNPLA8	Gowers sign	HP:0003391
9681	DEPDC5	Intellectual disability	HP:0001249
9681	DEPDC5	Focal cortical dysplasia type IIa	HP:0032052
9681	DEPDC5	Incomplete penetrance	HP:0003829
9681	DEPDC5	Hemimegalencephaly	HP:0007206
9681	DEPDC5	Autosomal dominant inheritance	HP:0000006
9681	DEPDC5	Autistic behavior	HP:0000729
9681	DEPDC5	Nocturnal seizures	HP:0031951
9681	DEPDC5	Focal cortical dysplasia type I	HP:0032047
1490	CCN2	Dyspareunia	HP:0030016
1490	CCN2	Joint contracture of the hand	HP:0009473
1490	CCN2	Pulmonary infiltrates	HP:0002113
1490	CCN2	Arthralgia	HP:0002829
1490	CCN2	Autoimmunity	HP:0002960
1490	CCN2	Renal insufficiency	HP:0000083
1490	CCN2	Arthritis	HP:0001369
1490	CCN2	Xerostomia	HP:0000217
1490	CCN2	Flexion contracture	HP:0001371
1490	CCN2	Hypopigmented skin patches	HP:0001053
1490	CCN2	Pulmonary fibrosis	HP:0002206
1490	CCN2	Carious teeth	HP:0000670
1490	CCN2	Dysphagia	HP:0002015
1490	CCN2	Narrow foramen obturatorium	HP:0100958
1490	CCN2	Nausea and vomiting	HP:0002017
1490	CCN2	Mucosal telangiectasiae	HP:0100579
1490	CCN2	Congestive heart failure	HP:0001635
1490	CCN2	Gastroesophageal reflux	HP:0002020
1490	CCN2	Telangiectasia of the skin	HP:0100585
1490	CCN2	Malabsorption	HP:0002024
1490	CCN2	Skin ulcer	HP:0200042
1490	CCN2	Oliguria	HP:0100520
1490	CCN2	Pulmonary arterial hypertension	HP:0002092
1490	CCN2	Muscle weakness	HP:0001324
1490	CCN2	Osteolysis	HP:0002797
1490	CCN2	Contractures involving the joints of the feet	HP:0008366
1490	CCN2	Dyspnea	HP:0002094
1490	CCN2	Abnormal bowel sounds	HP:0030142
1490	CCN2	Hypertensive crisis	HP:0100735
1491	CTH	Cystathioninuria	HP:0003153
1491	CTH	Autosomal recessive inheritance	HP:0000007
1493	CTLA4	Poikiloderma	HP:0001029
1493	CTLA4	Autosomal dominant inheritance	HP:0000006
1493	CTLA4	Meningitis	HP:0001287
1493	CTLA4	Proptosis	HP:0000520
1493	CTLA4	Headache	HP:0002315
1493	CTLA4	Arthralgia	HP:0002829
1493	CTLA4	Hematuria	HP:0000790
1493	CTLA4	Prostatitis	HP:0000024
1493	CTLA4	Hypopigmented skin patches	HP:0001053
1493	CTLA4	Erythema	HP:0010783
1493	CTLA4	Weight loss	HP:0001824
1493	CTLA4	Restrictive ventilatory defect	HP:0002091
1493	CTLA4	Respiratory insufficiency	HP:0002093
1493	CTLA4	Hypertension	HP:0000822
1493	CTLA4	Pleuritis	HP:0002102
1493	CTLA4	Abnormality of the pleura	HP:0002103
1493	CTLA4	Tremor	HP:0001337
1493	CTLA4	Hemoptysis	HP:0002105
1493	CTLA4	Alopecia	HP:0001596
1493	CTLA4	Abnormality of the nail	HP:0001597
1493	CTLA4	Pulmonary infiltrates	HP:0002113
1493	CTLA4	Ureteral stenosis	HP:0000071
1493	CTLA4	Venous thrombosis	HP:0004936
1493	CTLA4	Vasculitis	HP:0002633
1493	CTLA4	Cerebral ischemia	HP:0002637
1493	CTLA4	Renal insufficiency	HP:0000083
1493	CTLA4	Fatigue	HP:0012378
1493	CTLA4	Proteinuria	HP:0000093
1493	CTLA4	Intestinal obstruction	HP:0005214
1493	CTLA4	Abnormality of the hypothalamus-pituitary axis	HP:0000864
1493	CTLA4	Lymphopenia	HP:0001888
1493	CTLA4	Skin plaque	HP:0200035
1493	CTLA4	Papule	HP:0200034
1493	CTLA4	Autoimmune hemolytic anemia	HP:0001890
1493	CTLA4	Peripheral neuropathy	HP:0009830
1493	CTLA4	Skin ulcer	HP:0200042
1493	CTLA4	Diabetes insipidus	HP:0000873
1493	CTLA4	Chronic obstructive pulmonary disease	HP:0006510
1493	CTLA4	Lichenification	HP:0100725
1493	CTLA4	Hydronephrosis	HP:0000126
1493	CTLA4	Skeletal muscle atrophy	HP:0003202
1493	CTLA4	Neoplasm of the skin	HP:0008069
1493	CTLA4	Chronic otitis media	HP:0000389
1493	CTLA4	Recurrent intrapulmonary hemorrhage	HP:0006535
1493	CTLA4	Granulomatosis	HP:0002955
1493	CTLA4	Chest pain	HP:0100749
1493	CTLA4	Ectropion	HP:0000656
1493	CTLA4	Autoimmunity	HP:0002960
1493	CTLA4	Angina pectoris	HP:0001681
1493	CTLA4	Gangrene	HP:0100758
1493	CTLA4	Sensorineural hearing impairment	HP:0000407
1493	CTLA4	Fever	HP:0001945
1493	CTLA4	Arrhythmia	HP:0011675
1493	CTLA4	Lymphadenopathy	HP:0002716
1493	CTLA4	Recurrent respiratory infections	HP:0002205
1493	CTLA4	Pulmonary fibrosis	HP:0002206
1493	CTLA4	Cutaneous T-cell lymphoma	HP:0012192
1493	CTLA4	Immunodeficiency	HP:0002721
1493	CTLA4	Abnormal oral cavity morphology	HP:0000163
1493	CTLA4	Pericarditis	HP:0001701
1493	CTLA4	Epistaxis	HP:0000421
1493	CTLA4	Cranial nerve paralysis	HP:0006824
1493	CTLA4	Inflammatory abnormality of the eye	HP:0100533
1493	CTLA4	Psoriasiform dermatitis	HP:0003765
1493	CTLA4	Autoimmune thrombocytopenia	HP:0001973
1493	CTLA4	Abnormality of bone marrow cell morphology	HP:0005561
1493	CTLA4	Periorbital edema	HP:0100539
1493	CTLA4	Dry skin	HP:0000958
1493	CTLA4	Gastrointestinal hemorrhage	HP:0002239
1493	CTLA4	Cough	HP:0012735
1493	CTLA4	Hepatomegaly	HP:0002240
1493	CTLA4	Hyperkeratosis	HP:0000962
1493	CTLA4	Eczema	HP:0000964
1493	CTLA4	Pancreatitis	HP:0001733
1493	CTLA4	Edema	HP:0000969
1493	CTLA4	Abnormal immunoglobulin level	HP:0010701
1493	CTLA4	Abnormal facial shape	HP:0001999
1493	CTLA4	Splenomegaly	HP:0001744
1493	CTLA4	Purpura	HP:0000979
1493	CTLA4	Nail dystrophy	HP:0008404
1493	CTLA4	Glomerulopathy	HP:0100820
1493	CTLA4	Palmoplantar keratoderma	HP:0000982
1493	CTLA4	Decreased antibody level in blood	HP:0004313
1493	CTLA4	Elevated C-reactive protein level	HP:0011227
1493	CTLA4	Skin rash	HP:0000988
1493	CTLA4	Pruritus	HP:0000989
1493	CTLA4	Diarrhea	HP:0002014
1493	CTLA4	Nausea and vomiting	HP:0002017
1493	CTLA4	Seizures	HP:0001250
1493	CTLA4	Recurrent upper respiratory tract infections	HP:0002788
1493	CTLA4	Irregular hyperpigmentation	HP:0007400
1493	CTLA4	Retinopathy	HP:0000488
1493	CTLA4	Abdominal pain	HP:0002027
1493	CTLA4	Abnormal lymphocyte morphology	HP:0004332
1493	CTLA4	Abnormal eyelid morphology	HP:0000492
1493	CTLA4	Elevated erythrocyte sedimentation rate	HP:0003565
1493	CTLA4	Incomplete penetrance	HP:0003829
1493	CTLA4	Sinusitis	HP:0000246
1493	CTLA4	Visual impairment	HP:0000505
1493	CTLA4	Erythroderma	HP:0001019
1493	CTLA4	Sensory neuropathy	HP:0000763
1493	CTLA4	Hemiplegia	HP:0002301
1493	CTLA4	Myalgia	HP:0003326
1495	CTNNA1	Foveal hyperpigmentation	HP:0008001
1495	CTNNA1	Drusen	HP:0011510
1495	CTNNA1	Autosomal dominant inheritance	HP:0000006
9688	NUP93	Focal segmental glomerulosclerosis	HP:0000097
9688	NUP93	Hematuria	HP:0000790
9688	NUP93	Autosomal recessive inheritance	HP:0000007
9688	NUP93	Progressive	HP:0003676
9688	NUP93	Steroid-resistant nephrotic syndrome	HP:0012588
9688	NUP93	Stage 5 chronic kidney disease	HP:0003774
9688	NUP93	Diffuse mesangial sclerosis	HP:0001967
1496	CTNNA2	Intellectual disability, severe	HP:0010864
1496	CTNNA2	Absent speech	HP:0001344
1496	CTNNA2	EEG abnormality	HP:0002353
1496	CTNNA2	Hyperreflexia	HP:0001347
1496	CTNNA2	Ataxia	HP:0001251
1496	CTNNA2	Pachygyria	HP:0001302
1496	CTNNA2	Cerebellar hypoplasia	HP:0001321
1496	CTNNA2	Inability to walk	HP:0002540
1496	CTNNA2	Hypoplasia of the brainstem	HP:0002365
1496	CTNNA2	Spastic tetraplegia	HP:0002510
1496	CTNNA2	Global developmental delay	HP:0001263
1496	CTNNA2	Hypoplasia of the corpus callosum	HP:0002079
1497	CTNS	Rachitic rosary	HP:0000897
1497	CTNS	Skeletal muscle atrophy	HP:0003202
1497	CTNS	Glycosuria	HP:0003076
1497	CTNS	Retinal pigment epithelial mottling	HP:0007814
1497	CTNS	Autosomal recessive inheritance	HP:0000007
1497	CTNS	Cerebral atrophy	HP:0002059
1497	CTNS	Corneal crystals	HP:0000531
1497	CTNS	Nephrolithiasis	HP:0000787
1497	CTNS	Dehydration	HP:0001944
1497	CTNS	Male hypogonadism	HP:0000026
1497	CTNS	Aminoaciduria	HP:0003355
1497	CTNS	Abnormality of vitamin D metabolism	HP:0100511
1497	CTNS	Elevated intracellular cystine	HP:0003358
1497	CTNS	Decreased plasma carnitine	HP:0003234
1497	CTNS	Hyperphosphaturia	HP:0003109
1497	CTNS	Juvenile onset	HP:0003621
1497	CTNS	Polydipsia	HP:0001959
1497	CTNS	Progressive neurologic deterioration	HP:0002344
1497	CTNS	Genu valgum	HP:0002857
1497	CTNS	Episodic metabolic acidosis	HP:0004911
1497	CTNS	Hypophosphatemic rickets	HP:0004912
1497	CTNS	Tubulointerstitial abnormality	HP:0001969
1497	CTNS	Diabetes mellitus	HP:0000819
1497	CTNS	Male infertility	HP:0003251
1497	CTNS	Low-molecular-weight proteinuria	HP:0003126
1497	CTNS	Hyperchloremic metabolic acidosis	HP:0004918
1497	CTNS	Delayed puberty	HP:0000823
1497	CTNS	Rickets	HP:0002748
1497	CTNS	Cognitive impairment	HP:0100543
1497	CTNS	Stage 5 chronic kidney disease	HP:0003774
1497	CTNS	Delayed skeletal maturation	HP:0002750
1497	CTNS	Hepatomegaly	HP:0002240
1497	CTNS	Primary hypothyroidism	HP:0000832
1497	CTNS	Abnormality of the cerebral white matter	HP:0002500
1497	CTNS	Pigmentary retinopathy	HP:0000580
1497	CTNS	Hypohidrosis	HP:0000966
1497	CTNS	Metaphyseal widening	HP:0003016
1497	CTNS	Renal Fanconi syndrome	HP:0001994
1497	CTNS	Exocrine pancreatic insufficiency	HP:0001738
1497	CTNS	Oral-pharyngeal dysphagia	HP:0200136
1497	CTNS	Splenomegaly	HP:0001744
1497	CTNS	Cerebral calcification	HP:0002514
1497	CTNS	Renal insufficiency	HP:0000083
1497	CTNS	Hypokalemia	HP:0002900
1497	CTNS	Hyponatremia	HP:0002902
1497	CTNS	Frontal bossing	HP:0002007
1497	CTNS	Microscopic hematuria	HP:0002907
1497	CTNS	Vomiting	HP:0002013
1497	CTNS	Proteinuria	HP:0000093
1497	CTNS	Generalized aminoaciduria	HP:0002909
1497	CTNS	Dysphagia	HP:0002015
1497	CTNS	Hypopigmentation of hair	HP:0005599
1497	CTNS	Short stature	HP:0004322
1497	CTNS	Constipation	HP:0002019
1497	CTNS	Growth abnormality	HP:0001507
1497	CTNS	Hypophosphatemia	HP:0002148
1497	CTNS	Failure to thrive	HP:0001508
1497	CTNS	Photophobia	HP:0000613
1497	CTNS	Growth delay	HP:0001510
1497	CTNS	Polyuria	HP:0000103
1497	CTNS	Retinopathy	HP:0000488
1497	CTNS	Blindness	HP:0000618
1497	CTNS	Abnormality of thyroid physiology	HP:0002926
1497	CTNS	Oral motor hypotonia	HP:0030190
1497	CTNS	Recurrent corneal erosions	HP:0000495
1497	CTNS	Hypopigmentation of the skin	HP:0001010
1497	CTNS	Failure to thrive in infancy	HP:0001531
1497	CTNS	Renal tubular dysfunction	HP:0000124
1497	CTNS	Myopathy	HP:0003198
1499	CTNNB1	Autosomal dominant inheritance	HP:0000006
1499	CTNNB1	Autosomal recessive inheritance	HP:0000007
1499	CTNNB1	Infantile onset	HP:0003593
1499	CTNNB1	Retinal hole	HP:0011530
1499	CTNNB1	Generalized hypotonia	HP:0001290
1499	CTNNB1	Headache	HP:0002315
1499	CTNNB1	Dysgerminoma	HP:0100621
1499	CTNNB1	Arthralgia	HP:0002829
1499	CTNNB1	Vertigo	HP:0002321
1499	CTNNB1	Abnormality of retinal pigmentation	HP:0007703
1499	CTNNB1	Exudative vitreoretinopathy	HP:0030490
1499	CTNNB1	Hypermetropia	HP:0000540
1499	CTNNB1	Polyphagia	HP:0002591
1499	CTNNB1	Hypoplasia of the corpus callosum	HP:0002079
1499	CTNNB1	Retinal degeneration	HP:0000546
1499	CTNNB1	Portal vein thrombosis	HP:0030242
1499	CTNNB1	Sleep apnea	HP:0010535
1499	CTNNB1	Hypogonadotrophic hypogonadism	HP:0000044
1499	CTNNB1	Hepatic necrosis	HP:0002605
1499	CTNNB1	Progressive visual field defects	HP:0007987
1499	CTNNB1	Pituitary hypothyroidism	HP:0008245
1499	CTNNB1	Delayed puberty	HP:0000823
1499	CTNNB1	Bitemporal hemianopia	HP:0030521
1499	CTNNB1	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
1499	CTNNB1	Papilledema	HP:0001085
1499	CTNNB1	Medulloblastoma	HP:0002885
1499	CTNNB1	Uterine leiomyosarcoma	HP:0002891
1499	CTNNB1	Intestinal polyposis	HP:0200008
1499	CTNNB1	Cerebral ischemia	HP:0002637
1499	CTNNB1	Intracranial cystic lesion	HP:0010576
1499	CTNNB1	Transitional cell carcinoma of the bladder	HP:0006740
1499	CTNNB1	Long philtrum	HP:0000343
1499	CTNNB1	Type II diabetes mellitus	HP:0005978
1499	CTNNB1	Fatigue	HP:0012378
1499	CTNNB1	Sudden loss of visual acuity	HP:0001117
1499	CTNNB1	Vitreoretinopathy	HP:0007773
1499	CTNNB1	Intestinal obstruction	HP:0005214
1499	CTNNB1	Central diabetes insipidus	HP:0000863
1499	CTNNB1	Limitation of joint mobility	HP:0001376
1499	CTNNB1	Neoplasm of the stomach	HP:0006753
1499	CTNNB1	Increased susceptibility to fractures	HP:0002659
1499	CTNNB1	Prolactin excess	HP:0000870
1499	CTNNB1	Hearing impairment	HP:0000365
1499	CTNNB1	Elevated alpha-fetoprotein	HP:0006254
1499	CTNNB1	Hepatic fibrosis	HP:0001395
1499	CTNNB1	Ovarian papillary adenocarcinoma	HP:0006774
1499	CTNNB1	Neurological speech impairment	HP:0002167
1499	CTNNB1	Hepatocellular carcinoma	HP:0001402
1499	CTNNB1	Myocardial infarction	HP:0001658
1499	CTNNB1	Abnormal visual field test	HP:0030588
1499	CTNNB1	Hydronephrosis	HP:0000126
1499	CTNNB1	Nystagmus	HP:0000639
1499	CTNNB1	Neoplasm of the skin	HP:0008069
1499	CTNNB1	Micronodular cirrhosis	HP:0001413
1499	CTNNB1	Optic atrophy	HP:0000648
1499	CTNNB1	Chest pain	HP:0100749
1499	CTNNB1	Heterogeneous	HP:0001425
1499	CTNNB1	Abnormality of metabolism/homeostasis	HP:0001939
1499	CTNNB1	Somatic mutation	HP:0001428
1499	CTNNB1	Desmoid tumors	HP:0100245
1499	CTNNB1	Recurrent infections	HP:0002719
1499	CTNNB1	Epigastric pain	HP:0410019
1499	CTNNB1	Subacute progressive viral hepatitis	HP:0006572
1499	CTNNB1	Proportionate short stature	HP:0003508
1499	CTNNB1	Abnormality of the frontal bone	HP:0430000
1499	CTNNB1	Breast carcinoma	HP:0003002
1499	CTNNB1	Abnormality of the nasal bone	HP:0010939
1499	CTNNB1	Gastrointestinal hemorrhage	HP:0002239
1499	CTNNB1	Hepatomegaly	HP:0002240
1499	CTNNB1	Postnatal growth retardation	HP:0008897
1499	CTNNB1	Abnormality of the musculature	HP:0003011
1499	CTNNB1	Sepsis	HP:0100806
1499	CTNNB1	Subcutaneous nodule	HP:0001482
1499	CTNNB1	Abnormality of the abdominal wall	HP:0004298
1499	CTNNB1	Renal cell carcinoma	HP:0005584
1499	CTNNB1	Cerebral calcification	HP:0002514
1499	CTNNB1	Increased intracranial pressure	HP:0002516
1499	CTNNB1	Central adrenal insufficiency	HP:0011734
1499	CTNNB1	Enlarged pituitary gland	HP:0012505
1499	CTNNB1	Thin upper lip vermilion	HP:0000219
1499	CTNNB1	Vomiting	HP:0002013
1499	CTNNB1	Intellectual disability	HP:0001249
1499	CTNNB1	Nausea and vomiting	HP:0002017
1499	CTNNB1	Pilomatrixoma	HP:0030434
1499	CTNNB1	Seizures	HP:0001250
1499	CTNNB1	Neoplasm of the anterior pituitary	HP:0011750
1499	CTNNB1	Strabismus	HP:0000486
1499	CTNNB1	Malabsorption	HP:0002024
1499	CTNNB1	Obesity	HP:0001513
1499	CTNNB1	Coma	HP:0001259
1499	CTNNB1	Abdominal pain	HP:0002027
1499	CTNNB1	Osteolysis	HP:0002797
1499	CTNNB1	Excessive daytime somnolence	HP:0001262
1499	CTNNB1	Hydrocephalus	HP:0000238
1499	CTNNB1	Global developmental delay	HP:0001263
1499	CTNNB1	Spastic diplegia	HP:0001264
1499	CTNNB1	Slow decrease in visual acuity	HP:0007924
1499	CTNNB1	Incomplete penetrance	HP:0003829
1499	CTNNB1	Microcephaly	HP:0000252
1499	CTNNB1	Abnormal hypothalamus morphology	HP:0012286
1499	CTNNB1	Myalgia	HP:0003326
50651	SLC45A1	Depressed nasal bridge	HP:0005280
50651	SLC45A1	Obsessive-compulsive trait	HP:0008770
50651	SLC45A1	Seizures	HP:0001250
50651	SLC45A1	Anxiety	HP:0000739
50651	SLC45A1	Triangular face	HP:0000325
50651	SLC45A1	Intellectual disability, moderate	HP:0002342
50651	SLC45A1	Autosomal recessive inheritance	HP:0000007
50651	SLC45A1	Thin vermilion border	HP:0000233
50651	SLC45A1	Generalized hypotonia	HP:0001290
50651	SLC45A1	Downslanted palpebral fissures	HP:0000494
50651	SLC45A1	Global developmental delay	HP:0001263
50651	SLC45A1	Highly arched eyebrow	HP:0002553
50651	SLC45A1	Hypertelorism	HP:0000316
50651	SLC45A1	Smooth philtrum	HP:0000319
1500	CTNND1	Abnormal hair quantity	HP:0011362
1500	CTNND1	Ectropion of lower eyelids	HP:0007651
1500	CTNND1	Facial asymmetry	HP:0000324
1500	CTNND1	Anal atresia	HP:0002023
1500	CTNND1	Euryblepharon	HP:0012905
1500	CTNND1	Epidermoid cyst	HP:0200040
1500	CTNND1	Reduced number of teeth	HP:0009804
1500	CTNND1	Distichiasis	HP:0009743
1500	CTNND1	Flat face	HP:0012368
1500	CTNND1	Conductive hearing impairment	HP:0000405
1500	CTNND1	Finger syndactyly	HP:0006101
1500	CTNND1	Abnormality of vision	HP:0000504
1500	CTNND1	Bilateral cleft lip and palate	HP:0002744
1500	CTNND1	Conical tooth	HP:0000698
1500	CTNND1	High forehead	HP:0000348
1500	CTNND1	Hypertelorism	HP:0000316
1500	CTNND1	Carious teeth	HP:0000670
1501	CTNND2	Preauricular skin tag	HP:0000384
1501	CTNND2	Recurrent fractures	HP:0002757
1501	CTNND2	Hand tremor	HP:0002378
1501	CTNND2	Headache	HP:0002315
1501	CTNND2	Severe global developmental delay	HP:0011344
1501	CTNND2	High pitched voice	HP:0001620
1501	CTNND2	Finger syndactyly	HP:0006101
1501	CTNND2	Generalized-onset seizure	HP:0002197
1501	CTNND2	Short neck	HP:0000470
1501	CTNND2	Inguinal hernia	HP:0000023
1501	CTNND2	Abnormality of cardiovascular system morphology	HP:0030680
1501	CTNND2	Scoliosis	HP:0002650
1501	CTNND2	High palate	HP:0000218
1501	CTNND2	Epicanthus	HP:0000286
1501	CTNND2	Intellectual disability	HP:0001249
1501	CTNND2	Amaurosis fugax	HP:0100576
1501	CTNND2	Short stature	HP:0004322
1501	CTNND2	Muscular hypotonia	HP:0001252
1501	CTNND2	Intrauterine growth retardation	HP:0001511
1501	CTNND2	Cat cry	HP:0200046
1501	CTNND2	Downslanted palpebral fissures	HP:0000494
1501	CTNND2	Wide nasal bridge	HP:0000431
1501	CTNND2	Low-set, posteriorly rotated ears	HP:0000368
1501	CTNND2	Intellectual disability, severe	HP:0010864
1501	CTNND2	EEG abnormality	HP:0002353
1501	CTNND2	Small hand	HP:0200055
1501	CTNND2	Microretrognathia	HP:0000308
1501	CTNND2	Round face	HP:0000311
1501	CTNND2	Myoclonus	HP:0001336
1501	CTNND2	Hypertelorism	HP:0000316
1501	CTNND2	Joint hyperflexibility	HP:0005692
1501	CTNND2	Microcephaly	HP:0000252
1501	CTNND2	Abnormality of bone mineral density	HP:0004348
1501	CTNND2	Focal-onset seizure	HP:0007359
1503	CTPS1	Lymphopenia	HP:0001888
1503	CTPS1	Immunodeficiency	HP:0002721
1503	CTPS1	Autosomal recessive inheritance	HP:0000007
1503	CTPS1	Severe viral infection	HP:0031691
1503	CTPS1	Decreased circulating IgG2 level	HP:0008348
1503	CTPS1	Recurrent viral infections	HP:0004429
1503	CTPS1	Defective T cell proliferation	HP:0030253
9698	PUM1	Intellectual disability	HP:0001249
9698	PUM1	Seizures	HP:0001250
9698	PUM1	Clinodactyly	HP:0030084
9698	PUM1	Autosomal dominant inheritance	HP:0000006
9698	PUM1	Cerebellar vermis atrophy	HP:0006855
9698	PUM1	Spasticity	HP:0001257
9698	PUM1	Diplopia	HP:0000651
9698	PUM1	Dysarthria	HP:0001260
9698	PUM1	Delayed speech and language development	HP:0000750
9698	PUM1	Abnormal facial shape	HP:0001999
9698	PUM1	Small hand	HP:0200055
9698	PUM1	Incomplete penetrance	HP:0003829
9698	PUM1	Narrow forehead	HP:0000341
9698	PUM1	Motor delay	HP:0001270
9698	PUM1	Chorea	HP:0002072
9698	PUM1	Progressive	HP:0003676
9698	PUM1	Ptosis	HP:0000508
9698	PUM1	Dysmetria	HP:0001310
9698	PUM1	Tapered finger	HP:0001182
1508	CTSB	Palmoplantar hyperhidrosis	HP:0007410
1508	CTSB	Pustule	HP:0200039
1508	CTSB	Autosomal dominant inheritance	HP:0000006
1508	CTSB	Erythema	HP:0010783
1508	CTSB	Hyperhidrosis	HP:0000975
1509	CTSD	Autosomal recessive inheritance	HP:0000007
1509	CTSD	Cerebral atrophy	HP:0002059
1509	CTSD	Rigidity	HP:0002063
1509	CTSD	Retinal atrophy	HP:0001105
1509	CTSD	Premature closure of fontanelles	HP:0005458
1509	CTSD	Abnormality of metabolism/homeostasis	HP:0001939
1509	CTSD	Sloping forehead	HP:0000340
1509	CTSD	Status epilepticus	HP:0002133
1509	CTSD	Increased neuronal autofluorescent lipopigment	HP:0002074
1509	CTSD	Neuronal loss in central nervous system	HP:0002529
1509	CTSD	Ataxia	HP:0001251
1509	CTSD	Intellectual disability, progressive	HP:0006887
1509	CTSD	Spasticity	HP:0001257
1509	CTSD	Respiratory insufficiency	HP:0002093
1509	CTSD	Wide nasal bridge	HP:0000431
1509	CTSD	Intellectual disability, severe	HP:0010864
1509	CTSD	Low-set ears	HP:0000369
1509	CTSD	Mental deterioration	HP:0001268
1509	CTSD	Cerebellar atrophy	HP:0001272
1509	CTSD	Apnea	HP:0002104
1509	CTSD	Congenital onset	HP:0003577
1509	CTSD	Microcephaly	HP:0000252
1509	CTSD	Visual loss	HP:0000572
1509	CTSD	Rod-cone dystrophy	HP:0000510
1509	CTSD	Sensory axonal neuropathy	HP:0003390
1509	CTSD	Respiratory failure	HP:0002878
9702	CEP57	Increased nuchal translucency	HP:0010880
9702	CEP57	Multicystic kidney dysplasia	HP:0000003
9702	CEP57	Clinodactyly	HP:0030084
9702	CEP57	Ascites	HP:0001541
9702	CEP57	Cataract	HP:0000518
9702	CEP57	Autosomal recessive inheritance	HP:0000007
9702	CEP57	Generalized hypotonia	HP:0001290
9702	CEP57	Dolichocephaly	HP:0000268
9702	CEP57	Multiple cafe-au-lait spots	HP:0007565
9702	CEP57	Coarctation of aorta	HP:0001680
9702	CEP57	Subvalvular aortic stenosis	HP:0001682
9702	CEP57	Long face	HP:0000276
9702	CEP57	Corneal opacity	HP:0007957
9702	CEP57	Dandy-Walker malformation	HP:0001305
9702	CEP57	Polyhydramnios	HP:0001561
9702	CEP57	Epicanthus	HP:0000286
9702	CEP57	Depressed nasal bridge	HP:0005280
9702	CEP57	Sleep apnea	HP:0010535
9702	CEP57	Rhabdomyosarcoma	HP:0002859
9702	CEP57	Vaginal neoplasm	HP:0100650
9702	CEP57	Myelodysplasia	HP:0002863
9702	CEP57	Cleft palate	HP:0000175
9702	CEP57	Hypothyroidism	HP:0000821
9702	CEP57	Abnormal lung lobation	HP:0002101
9702	CEP57	Growth hormone deficiency	HP:0000824
9702	CEP57	Microphthalmia	HP:0000568
9702	CEP57	Apnea	HP:0002104
9702	CEP57	Colon cancer	HP:0003003
9702	CEP57	Cafe-au-lait spot	HP:0000957
9702	CEP57	Wide nose	HP:0000445
9702	CEP57	Delayed skeletal maturation	HP:0002750
9702	CEP57	Ambiguous genitalia	HP:0000062
9702	CEP57	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9702	CEP57	Acute lymphoblastic leukemia	HP:0006721
9702	CEP57	Blepharophimosis	HP:0000581
9702	CEP57	Triangular face	HP:0000325
9702	CEP57	Duodenal atresia	HP:0002247
9702	CEP57	Short palpebral fissure	HP:0012745
9702	CEP57	Depressed nasal ridge	HP:0000457
9702	CEP57	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
9702	CEP57	Intestinal polyposis	HP:0200008
9702	CEP57	Holoprosencephaly	HP:0001360
9702	CEP57	Sloping forehead	HP:0000340
9702	CEP57	Frontal bossing	HP:0002007
9702	CEP57	Micrognathia	HP:0000347
9702	CEP57	High forehead	HP:0000348
9702	CEP57	Ventricular septal defect	HP:0001629
9702	CEP57	Stomach cancer	HP:0012126
9702	CEP57	Atrial septal defect	HP:0001631
9702	CEP57	Intellectual disability	HP:0001249
9702	CEP57	Short stature	HP:0004322
9702	CEP57	Seizures	HP:0001250
9702	CEP57	Abnormality of immune system physiology	HP:0010978
9702	CEP57	Muscular hypotonia	HP:0001252
9702	CEP57	Intrauterine growth retardation	HP:0001511
9702	CEP57	Intellectual disability, mild	HP:0001256
9702	CEP57	Muscular dystrophy	HP:0003560
9702	CEP57	Abnormality of skin pigmentation	HP:0001000
9702	CEP57	Deeply set eye	HP:0000490
9702	CEP57	Epidermoid cyst	HP:0200040
9702	CEP57	Nephroblastoma	HP:0002667
9702	CEP57	Hearing impairment	HP:0000365
9702	CEP57	Osteolysis	HP:0002797
9702	CEP57	Downslanted palpebral fissures	HP:0000494
9702	CEP57	Small for gestational age	HP:0001518
9702	CEP57	Global developmental delay	HP:0001263
9702	CEP57	Low-set, posteriorly rotated ears	HP:0000368
9702	CEP57	Low-set ears	HP:0000369
9702	CEP57	Clinodactyly of the 5th finger	HP:0004209
9702	CEP57	Glaucoma	HP:0000501
9702	CEP57	Abnormality of vision	HP:0000504
9702	CEP57	Aortic regurgitation	HP:0001659
9702	CEP57	Short nose	HP:0003196
9702	CEP57	Microcephaly	HP:0000252
1512	CTSH	Hallucinations	HP:0000738
1512	CTSH	Transient global amnesia	HP:0010534
1512	CTSH	Slurred speech	HP:0001350
1512	CTSH	Abnormality of vision	HP:0000504
1512	CTSH	Obesity	HP:0001513
1512	CTSH	Cataplexy	HP:0002524
1512	CTSH	Excessive daytime sleepiness	HP:0002189
1512	CTSH	Abnormal rapid eye movement sleep	HP:0002494
1512	CTSH	Syncope	HP:0001279
1513	CTSK	Absent frontal sinuses	HP:0002688
1513	CTSK	Brachydactyly	HP:0001156
1513	CTSK	Narrow chest	HP:0000774
1513	CTSK	Autosomal recessive inheritance	HP:0000007
1513	CTSK	Proptosis	HP:0000520
1513	CTSK	Abnormal vertebral morphology	HP:0003468
1513	CTSK	Prominent occiput	HP:0000269
1513	CTSK	Ridged nail	HP:0001807
1513	CTSK	Malar flattening	HP:0000272
1513	CTSK	Abnormal pelvis bone ossification	HP:0009106
1513	CTSK	Midface retrusion	HP:0011800
1513	CTSK	Short distal phalanx of finger	HP:0009882
1513	CTSK	Hypodontia	HP:0000668
1513	CTSK	Carious teeth	HP:0000670
1513	CTSK	Short toe	HP:0001831
1513	CTSK	Delayed eruption of primary teeth	HP:0000680
1513	CTSK	Abnormality of epiphysis morphology	HP:0005930
1513	CTSK	Delayed eruption of teeth	HP:0000684
1513	CTSK	Abnormality of the skin	HP:0000951
1513	CTSK	Delayed eruption of permanent teeth	HP:0000696
1513	CTSK	Narrow palate	HP:0000189
1513	CTSK	Cognitive impairment	HP:0100543
1513	CTSK	Persistence of primary teeth	HP:0006335
1513	CTSK	Hepatomegaly	HP:0002240
1513	CTSK	Prominent nose	HP:0000448
1513	CTSK	Osteomyelitis	HP:0002754
1513	CTSK	Recurrent fractures	HP:0002757
1513	CTSK	Abnormal fingernail morphology	HP:0001231
1513	CTSK	Blue sclerae	HP:0000592
1513	CTSK	Splenomegaly	HP:0001744
1513	CTSK	Abnormality of dental morphology	HP:0006482
1513	CTSK	Abnormality of pelvic girdle bone morphology	HP:0002644
1513	CTSK	Wormian bones	HP:0002645
1513	CTSK	Frontal bossing	HP:0002007
1513	CTSK	Scoliosis	HP:0002650
1513	CTSK	Micrognathia	HP:0000347
1513	CTSK	High forehead	HP:0000348
1513	CTSK	Skeletal dysplasia	HP:0002652
1513	CTSK	Bone pain	HP:0002653
1513	CTSK	Short stature	HP:0004322
1513	CTSK	Spondylolisthesis	HP:0003302
1513	CTSK	Spondylolysis	HP:0003304
1513	CTSK	Abnormal pattern of respiration	HP:0002793
1513	CTSK	Hyperlordosis	HP:0003307
1513	CTSK	Osteolysis	HP:0002797
1513	CTSK	Hydrocephalus	HP:0000238
1513	CTSK	Anemia	HP:0001903
1513	CTSK	Osteolytic defects of the distal phalanges of the hand	HP:0009839
1513	CTSK	Brachycephaly	HP:0000248
1513	CTSK	Kyphosis	HP:0002808
1513	CTSK	Abnormality of the clavicle	HP:0000889
1513	CTSK	Increased bone mineral density	HP:0011001
1513	CTSK	Persistent open anterior fontanelle	HP:0004474
1513	CTSK	Abnormality of the thorax	HP:0000765
91624	NEXN	Left ventricular hypertrophy	HP:0001712
91624	NEXN	EMG abnormality	HP:0003457
91624	NEXN	Abnormality of neutrophils	HP:0001874
91624	NEXN	Lipoatrophy	HP:0100578
91624	NEXN	Elevated serum creatine kinase	HP:0003236
91624	NEXN	Autosomal dominant inheritance	HP:0000006
91624	NEXN	Palmoplantar keratoderma	HP:0000982
91624	NEXN	Cardiomyopathy	HP:0001638
91624	NEXN	Atrial fibrillation	HP:0005110
91624	NEXN	Sensorineural hearing impairment	HP:0000407
91624	NEXN	Dilated cardiomyopathy	HP:0001644
91624	NEXN	Myopathy	HP:0003198
26090	ABHD12	Intention tremor	HP:0002080
26090	ABHD12	Pes cavus	HP:0001761
26090	ABHD12	Hyperreflexia	HP:0001347
26090	ABHD12	Ataxia	HP:0001251
26090	ABHD12	Sensorimotor neuropathy	HP:0007141
26090	ABHD12	Autosomal recessive inheritance	HP:0000007
26090	ABHD12	Optic atrophy	HP:0000648
26090	ABHD12	Spasticity	HP:0001257
26090	ABHD12	Achilles tendon contracture	HP:0001771
26090	ABHD12	Subcapsular cataract	HP:0000523
26090	ABHD12	Dysarthria	HP:0001260
26090	ABHD12	Distal amyotrophy	HP:0003693
26090	ABHD12	Hyporeflexia	HP:0001265
26090	ABHD12	Polyneuropathy	HP:0001271
26090	ABHD12	Sensorineural hearing impairment	HP:0000407
26090	ABHD12	Cerebellar atrophy	HP:0001272
26090	ABHD12	Distal sensory impairment	HP:0002936
26090	ABHD12	Onset	HP:0003674
26090	ABHD12	Decreased nerve conduction velocity	HP:0000762
26090	ABHD12	Slow progression	HP:0003677
26090	ABHD12	Dysmetria	HP:0001310
26090	ABHD12	Rod-cone dystrophy	HP:0000510
26090	ABHD12	Nystagmus	HP:0000639
26090	ABHD12	Babinski sign	HP:0003487
26092	TOR1AIP1	Ankle contracture	HP:0006466
26092	TOR1AIP1	Elevated serum creatine kinase	HP:0003236
26092	TOR1AIP1	Autosomal recessive inheritance	HP:0000007
26092	TOR1AIP1	Increased endomysial connective tissue	HP:0100297
26092	TOR1AIP1	Muscular dystrophy	HP:0003560
26092	TOR1AIP1	Spinal rigidity	HP:0003306
26092	TOR1AIP1	Muscle weakness	HP:0001324
26092	TOR1AIP1	Slow progression	HP:0003677
9711	RUBCN	Saccadic smooth pursuit	HP:0001152
9711	RUBCN	Intellectual disability	HP:0001249
9711	RUBCN	Seizures	HP:0001250
9711	RUBCN	Hyperreflexia	HP:0001347
9711	RUBCN	Ataxia	HP:0001251
9711	RUBCN	Autosomal recessive inheritance	HP:0000007
9711	RUBCN	Dysarthria	HP:0001260
9711	RUBCN	Unsteady gait	HP:0002317
9711	RUBCN	Delayed speech and language development	HP:0000750
9711	RUBCN	Hyporeflexia	HP:0001265
9711	RUBCN	Gait ataxia	HP:0002066
9711	RUBCN	Delayed gross motor development	HP:0002194
9711	RUBCN	Limb ataxia	HP:0002070
9711	RUBCN	Motor delay	HP:0001270
9711	RUBCN	Cerebellar atrophy	HP:0001272
9711	RUBCN	Postural instability	HP:0002172
9711	RUBCN	Progressive	HP:0003676
9711	RUBCN	Nystagmus	HP:0000639
50674	NEUROG3	Portal hypertension	HP:0001409
50674	NEUROG3	Cholestatic liver disease	HP:0002611
50674	NEUROG3	Failure to thrive	HP:0001508
50674	NEUROG3	Hyperchloremic metabolic acidosis	HP:0004918
50674	NEUROG3	Autosomal recessive inheritance	HP:0000007
50674	NEUROG3	Neonatal onset	HP:0003623
50674	NEUROG3	Malabsorption	HP:0002024
50674	NEUROG3	Dehydration	HP:0001944
50674	NEUROG3	Type I diabetes mellitus	HP:0100651
50674	NEUROG3	Abnormal cellular phenotype	HP:0025354
50674	NEUROG3	Vomiting	HP:0002013
50674	NEUROG3	Diarrhea	HP:0002014
124404	SEPTIN12	Abnormal sperm morphology	HP:0012864
124404	SEPTIN12	Infertility	HP:0000789
124404	SEPTIN12	Autosomal dominant inheritance	HP:0000006
9719	ADAMTSL2	Small nail	HP:0001792
9719	ADAMTSL2	Hepatomegaly	HP:0002240
9719	ADAMTSL2	Joint contracture of the hand	HP:0009473
9719	ADAMTSL2	Upslanted palpebral fissure	HP:0000582
9719	ADAMTSL2	Lack of skin elasticity	HP:0100679
9719	ADAMTSL2	Thickened helices	HP:0000391
9719	ADAMTSL2	Autosomal recessive inheritance	HP:0000007
9719	ADAMTSL2	Camptodactyly of finger	HP:0100490
9719	ADAMTSL2	Tricuspid stenosis	HP:0010446
9719	ADAMTSL2	Anteverted nares	HP:0000463
9719	ADAMTSL2	Short metacarpals with rounded proximal ends	HP:0006161
9719	ADAMTSL2	Hypoplasia of the capital femoral epiphysis	HP:0003090
9719	ADAMTSL2	Short long bone	HP:0003026
9719	ADAMTSL2	High pitched voice	HP:0001620
9719	ADAMTSL2	Wrist flexion contracture	HP:0001239
9719	ADAMTSL2	Long philtrum	HP:0000343
9719	ADAMTSL2	Tracheal stenosis	HP:0002777
9719	ADAMTSL2	Wide mouth	HP:0000154
9719	ADAMTSL2	Seizures	HP:0001250
9719	ADAMTSL2	Short stature	HP:0004322
9719	ADAMTSL2	Congestive heart failure	HP:0001635
9719	ADAMTSL2	Osteopenia	HP:0000938
9719	ADAMTSL2	Joint stiffness	HP:0001387
9719	ADAMTSL2	Short foot	HP:0001773
9719	ADAMTSL2	Global developmental delay	HP:0001263
9719	ADAMTSL2	Thickened skin	HP:0001072
9719	ADAMTSL2	Irregular capital femoral epiphysis	HP:0005041
9719	ADAMTSL2	Coxa valga	HP:0002673
9719	ADAMTSL2	Aortic valve stenosis	HP:0001650
9719	ADAMTSL2	Mitral stenosis	HP:0001718
9719	ADAMTSL2	Short palm	HP:0004279
9719	ADAMTSL2	Round face	HP:0000311
9719	ADAMTSL2	J-shaped sella turcica	HP:0002680
9719	ADAMTSL2	Short nose	HP:0003196
9719	ADAMTSL2	Pectus excavatum	HP:0000767
9719	ADAMTSL2	Smooth philtrum	HP:0000319
83449	PMFBP1	Sperm mid-piece anomaly	HP:0012867
83449	PMFBP1	Male infertility	HP:0003251
83449	PMFBP1	Acephalic spermatozoa	HP:0012869
83449	PMFBP1	Oligospermia	HP:0000798
83449	PMFBP1	Reduced sperm motility	HP:0012207
1528	CYB5A	Elevated circulating luteinizing hormone level	HP:0011969
1528	CYB5A	Primary gonadal insufficiency	HP:0008193
1528	CYB5A	Cyanosis	HP:0000961
1528	CYB5A	Gynecomastia	HP:0000771
1528	CYB5A	Autosomal recessive inheritance	HP:0000007
1528	CYB5A	Decreased fertility in males	HP:0012041
1528	CYB5A	Infantile onset	HP:0003593
1528	CYB5A	Hypoplasia of the uterus	HP:0000013
1528	CYB5A	Abnormal circulating corticosterone level	HP:0012112
1528	CYB5A	Primary amenorrhea	HP:0000786
1528	CYB5A	Abnormality of metabolism/homeostasis	HP:0001939
1528	CYB5A	Abnormal sex determination	HP:0012244
1528	CYB5A	Hypoplasia of the vagina	HP:0008726
1528	CYB5A	Decreased serum estradiol	HP:0008214
1528	CYB5A	Methemoglobinemia	HP:0012119
1528	CYB5A	Female external genitalia in individual with 46,XY karyotype	HP:0008730
1528	CYB5A	Cryptorchidism	HP:0000028
1528	CYB5A	Decreased testicular size	HP:0008734
1528	CYB5A	Ambiguous genitalia, male	HP:0000033
1528	CYB5A	Short stature	HP:0004322
1528	CYB5A	Enlarged polycystic ovaries	HP:0008675
1528	CYB5A	Decreased fertility in females	HP:0000868
1528	CYB5A	Failure to thrive	HP:0001508
1528	CYB5A	Male pseudohermaphroditism	HP:0000037
1528	CYB5A	Sparse axillary hair	HP:0002215
1528	CYB5A	Elevated circulating follicle stimulating hormone level	HP:0008232
1528	CYB5A	Osteoporosis	HP:0000939
1528	CYB5A	Decreased serum testosterone level	HP:0040171
1528	CYB5A	Hypergonadotropic hypogonadism	HP:0000815
1528	CYB5A	Hypospadias	HP:0000047
1528	CYB5A	Bifid scrotum	HP:0000048
1528	CYB5A	Sparse pubic hair	HP:0002225
1528	CYB5A	Micropenis	HP:0000054
1528	CYB5A	Delayed puberty	HP:0000823
1528	CYB5A	Sparse body hair	HP:0002231
1528	CYB5A	Absence of secondary sex characteristics	HP:0008187
1528	CYB5A	Dysmenorrhea	HP:0100607
1528	CYB5A	Delayed skeletal maturation	HP:0002750
1528	CYB5A	Ambiguous genitalia	HP:0000062
9723	SEMA3E	Umbilical hernia	HP:0001537
9723	SEMA3E	Gynecomastia	HP:0000771
9723	SEMA3E	Omphalocele	HP:0001539
9723	SEMA3E	Abnormality of the ribs	HP:0000772
9723	SEMA3E	Autosomal dominant inheritance	HP:0000006
9723	SEMA3E	Autosomal recessive inheritance	HP:0000007
9723	SEMA3E	Abnormality of female internal genitalia	HP:0000008
9723	SEMA3E	Tracheoesophageal fistula	HP:0002575
9723	SEMA3E	Anophthalmia	HP:0000528
9723	SEMA3E	Malar flattening	HP:0000272
9723	SEMA3E	Primary amenorrhea	HP:0000786
9723	SEMA3E	Narrow face	HP:0000275
9723	SEMA3E	Aplasia/Hypoplasia of the thymus	HP:0010515
9723	SEMA3E	Infertility	HP:0000789
9723	SEMA3E	Gonadotropin deficiency	HP:0008213
9723	SEMA3E	Polyhydramnios	HP:0001561
9723	SEMA3E	Dandy-Walker malformation	HP:0001305
9723	SEMA3E	Cryptorchidism	HP:0000028
9723	SEMA3E	Decreased testicular size	HP:0008734
9723	SEMA3E	Epicanthus	HP:0000286
9723	SEMA3E	Hypogonadotrophic hypogonadism	HP:0000044
9723	SEMA3E	Respiratory insufficiency	HP:0002093
9723	SEMA3E	Bifid scrotum	HP:0000048
9723	SEMA3E	Short thumb	HP:0009778
9723	SEMA3E	Hypothyroidism	HP:0000821
9723	SEMA3E	Micropenis	HP:0000054
9723	SEMA3E	Chorioretinal coloboma	HP:0000567
9723	SEMA3E	Delayed puberty	HP:0000823
9723	SEMA3E	Microphthalmia	HP:0000568
9723	SEMA3E	Growth hormone deficiency	HP:0000824
9723	SEMA3E	Hypertelorism	HP:0000316
9723	SEMA3E	Anterior hypopituitarism	HP:0000830
9723	SEMA3E	Laryngomalacia	HP:0001601
9723	SEMA3E	Square face	HP:0000321
9723	SEMA3E	Labial hypoplasia	HP:0000066
9723	SEMA3E	Abnormality of the adrenal glands	HP:0000834
9723	SEMA3E	Facial asymmetry	HP:0000324
9723	SEMA3E	Vesicoureteral reflux	HP:0000076
9723	SEMA3E	Holoprosencephaly	HP:0001360
9723	SEMA3E	Horseshoe kidney	HP:0000085
9723	SEMA3E	Hypocalcemia	HP:0002901
9723	SEMA3E	Down-sloping shoulders	HP:0200021
9723	SEMA3E	Renal hypoplasia	HP:0000089
9723	SEMA3E	Scoliosis	HP:0002650
9723	SEMA3E	Interrupted aortic arch	HP:0011611
9723	SEMA3E	Talipes	HP:0001883
9723	SEMA3E	Arrhinencephaly	HP:0002139
9723	SEMA3E	Micrognathia	HP:0000347
9723	SEMA3E	Parathyroid hypoplasia	HP:0000860
9723	SEMA3E	Ventricular septal defect	HP:0001629
9723	SEMA3E	Atrial septal defect	HP:0001631
9723	SEMA3E	Lymphopenia	HP:0001888
9723	SEMA3E	Tetralogy of Fallot	HP:0001636
9723	SEMA3E	Iris coloboma	HP:0000612
9723	SEMA3E	Microtia	HP:0008551
9723	SEMA3E	Renal agenesis	HP:0000104
9723	SEMA3E	Attention deficit hyperactivity disorder	HP:0007018
9723	SEMA3E	Aqueductal stenosis	HP:0002410
9723	SEMA3E	Pulmonic stenosis	HP:0001642
9723	SEMA3E	Patent ductus arteriosus	HP:0001643
9723	SEMA3E	Hearing impairment	HP:0000365
9723	SEMA3E	Abnormal aortic valve morphology	HP:0001646
9723	SEMA3E	Low-set, posteriorly rotated ears	HP:0000368
9723	SEMA3E	Clinodactyly of the 5th finger	HP:0004209
9723	SEMA3E	Eyelid coloboma	HP:0000625
9723	SEMA3E	Hypoplasia of the semicircular canal	HP:0011382
9723	SEMA3E	Lacrimation abnormality	HP:0000632
9723	SEMA3E	Hemivertebrae	HP:0002937
9723	SEMA3E	Cupped ear	HP:0000378
9723	SEMA3E	External ear malformation	HP:0008572
9723	SEMA3E	Hydronephrosis	HP:0000126
9723	SEMA3E	Nystagmus	HP:0000639
9723	SEMA3E	Preauricular skin tag	HP:0000384
9723	SEMA3E	Abnormal soft palate morphology	HP:0100736
9723	SEMA3E	Facial palsy	HP:0010628
9723	SEMA3E	Brachydactyly	HP:0001156
9723	SEMA3E	Absent radius	HP:0003974
9723	SEMA3E	Abnormal cardiac septum morphology	HP:0001671
9723	SEMA3E	Optic atrophy	HP:0000648
9723	SEMA3E	Hand polydactyly	HP:0001161
9723	SEMA3E	Lop ear	HP:0000394
9723	SEMA3E	Overfolded helix	HP:0000396
9723	SEMA3E	Posterior choanal atresia	HP:0004496
9723	SEMA3E	Mixed hearing impairment	HP:0000410
9723	SEMA3E	Depressed nasal bridge	HP:0005280
9723	SEMA3E	Narrow mouth	HP:0000160
9723	SEMA3E	Sporadic	HP:0003745
9723	SEMA3E	Sparse axillary hair	HP:0002215
9723	SEMA3E	Feeding difficulties in infancy	HP:0008872
9723	SEMA3E	Delayed eruption of teeth	HP:0000684
9723	SEMA3E	Hypoplasia of the zygomatic bone	HP:0010669
9723	SEMA3E	Cleft palate	HP:0000175
9723	SEMA3E	Abnormality of tibia morphology	HP:0002992
9723	SEMA3E	Sparse pubic hair	HP:0002225
9723	SEMA3E	Aplasia/Hypoplasia of the earlobes	HP:0009906
9723	SEMA3E	Double outlet right ventricle	HP:0001719
9723	SEMA3E	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9723	SEMA3E	Feeding difficulties	HP:0011968
9723	SEMA3E	Postnatal growth retardation	HP:0008897
9723	SEMA3E	Choanal atresia	HP:0000453
9723	SEMA3E	Duodenal atresia	HP:0002247
9723	SEMA3E	Anosmia	HP:0000458
9723	SEMA3E	Bifid femur	HP:0010443
9723	SEMA3E	Cleft upper lip	HP:0000204
9723	SEMA3E	Autism	HP:0000717
9723	SEMA3E	Hypoplasia of the ulna	HP:0003022
9723	SEMA3E	Webbed neck	HP:0000465
9723	SEMA3E	Obsessive-compulsive behavior	HP:0000722
9723	SEMA3E	Hand monodactyly	HP:0004058
9723	SEMA3E	Dysphagia	HP:0002015
9723	SEMA3E	Retinal coloboma	HP:0000480
9723	SEMA3E	Intellectual disability	HP:0001249
9723	SEMA3E	Abnormality of immune system physiology	HP:0010978
9723	SEMA3E	Short stature	HP:0004322
9723	SEMA3E	Gastroesophageal reflux	HP:0002020
9723	SEMA3E	Muscular hypotonia	HP:0001252
9723	SEMA3E	Strabismus	HP:0000486
9723	SEMA3E	Intrauterine growth retardation	HP:0001511
9723	SEMA3E	Anal atresia	HP:0002023
9723	SEMA3E	Anal stenosis	HP:0002025
9723	SEMA3E	Downslanted palpebral fissures	HP:0000494
9723	SEMA3E	Global developmental delay	HP:0001263
9723	SEMA3E	Esophageal atresia	HP:0002032
9723	SEMA3E	Abnormality of vision	HP:0000504
9723	SEMA3E	Aortic arch aneurysm	HP:0005113
9723	SEMA3E	Highly arched eyebrow	HP:0002553
9723	SEMA3E	Abnormal palmar dermatoglyphics	HP:0001018
9723	SEMA3E	Microcephaly	HP:0000252
9723	SEMA3E	Ptosis	HP:0000508
9723	SEMA3E	Abnormality of bone mineral density	HP:0004348
9723	SEMA3E	Dimple chin	HP:0010751
83452	RAB33B	Pectus carinatum	HP:0000768
83452	RAB33B	Short metacarpal	HP:0010049
83452	RAB33B	Disproportionate short-trunk short stature	HP:0003521
83452	RAB33B	Pes planus	HP:0001763
83452	RAB33B	Decreased body weight	HP:0004325
83452	RAB33B	Autosomal recessive inheritance	HP:0000007
83452	RAB33B	Genu valgum	HP:0002857
83452	RAB33B	Short phalanx of finger	HP:0009803
83452	RAB33B	Flattened femoral head	HP:0008812
83452	RAB33B	Hypoplasia of the odontoid process	HP:0003311
83452	RAB33B	Barrel-shaped chest	HP:0001552
83452	RAB33B	Metaphyseal irregularity	HP:0003025
83452	RAB33B	Short neck	HP:0000470
83452	RAB33B	Broad metatarsal	HP:0001783
83452	RAB33B	Short metatarsal	HP:0010743
83452	RAB33B	Broad phalanx	HP:0006009
83452	RAB33B	Broad femoral neck	HP:0006429
83452	RAB33B	Platyspondyly	HP:0000926
83452	RAB33B	Flattened epiphysis	HP:0003071
1534	CYB561	Orthostatic hypotension	HP:0001278
91647	ATPAF2	Hepatomegaly	HP:0002240
91647	ATPAF2	Short stature	HP:0004322
91647	ATPAF2	Ataxia	HP:0001251
91647	ATPAF2	Hyperammonemia	HP:0001987
91647	ATPAF2	Muscular hypotonia	HP:0001252
91647	ATPAF2	Failure to thrive	HP:0001508
91647	ATPAF2	Hypertrophic cardiomyopathy	HP:0001639
91647	ATPAF2	Autosomal recessive inheritance	HP:0000007
91647	ATPAF2	Increased serum lactate	HP:0002151
91647	ATPAF2	Infantile onset	HP:0003593
91647	ATPAF2	Generalized hypotonia	HP:0001290
91647	ATPAF2	Prominent nasal bridge	HP:0000426
91647	ATPAF2	Psychomotor retardation	HP:0025356
91647	ATPAF2	3-Methylglutaconic aciduria	HP:0003535
91647	ATPAF2	Global developmental delay	HP:0001263
91647	ATPAF2	Hypospadias	HP:0000047
91647	ATPAF2	Low-set ears	HP:0000369
91647	ATPAF2	Retrognathia	HP:0000278
91647	ATPAF2	Lactic acidosis	HP:0003128
91647	ATPAF2	Cryptorchidism	HP:0000028
91647	ATPAF2	Microcephaly	HP:0000252
1535	CYBA	Hepatomegaly	HP:0002240
1535	CYBA	Osteomyelitis	HP:0002754
1535	CYBA	Impaired oxidative burst	HP:0003203
1535	CYBA	Recurrent pneumonia	HP:0006532
1535	CYBA	Eczema	HP:0000964
1535	CYBA	Otitis media	HP:0000388
1535	CYBA	Decreased activity of NADPH oxidase	HP:0003206
1535	CYBA	Autosomal recessive inheritance	HP:0000007
1535	CYBA	Sepsis	HP:0100806
1535	CYBA	Meningitis	HP:0001287
1535	CYBA	Hypermelanotic macule	HP:0001034
1535	CYBA	Granulomatosis	HP:0002955
1535	CYBA	Tracheoesophageal fistula	HP:0002575
1535	CYBA	Eczematoid dermatitis	HP:0000976
1535	CYBA	Splenomegaly	HP:0001744
1535	CYBA	Abnormality of neutrophils	HP:0001874
1535	CYBA	Lymphadenitis	HP:0002840
1535	CYBA	Fever	HP:0001945
1535	CYBA	Recurrent Burkholderia cepacia infections	HP:0002842
1535	CYBA	Lymphadenopathy	HP:0002716
1535	CYBA	Recurrent respiratory infections	HP:0002205
1535	CYBA	Recurrent bacterial skin infections	HP:0005406
1535	CYBA	Cutaneous photosensitivity	HP:0000992
1535	CYBA	Immunodeficiency	HP:0002721
1535	CYBA	Absence of bactericidal oxidative respiratory burst in phagocytes	HP:0002723
1535	CYBA	Recurrent Aspergillus infections	HP:0002724
1535	CYBA	Juvenile onset	HP:0003621
1535	CYBA	Pyloric stenosis	HP:0002021
1535	CYBA	Recurrent Staphylococcus aureus infections	HP:0002726
1535	CYBA	Gingivitis	HP:0000230
1535	CYBA	Rectal abscess	HP:0005224
1535	CYBA	Malabsorption	HP:0002024
1535	CYBA	Skin ulcer	HP:0200042
1535	CYBA	Liver abscess	HP:0100523
1535	CYBA	Chronic obstructive pulmonary disease	HP:0006510
1535	CYBA	Mediastinal lymphadenopathy	HP:0100721
1535	CYBA	Cellulitis	HP:0100658
1535	CYBA	Recurrent E. coli infections	HP:0002740
1535	CYBA	Inflammatory abnormality of the eye	HP:0100533
1535	CYBA	Recurrent Serratia marcescens infections	HP:0002741
1535	CYBA	Recurrent Klebsiella infections	HP:0002742
1535	CYBA	Sinusitis	HP:0000246
1535	CYBA	Discoid lupus rash	HP:0007417
1535	CYBA	Deficiency or absence of cytochrome b(-245)	HP:0003514
1536	CYBB	Hepatomegaly	HP:0002240
1536	CYBB	Osteomyelitis	HP:0002754
1536	CYBB	Impaired oxidative burst	HP:0003203
1536	CYBB	Eczema	HP:0000964
1536	CYBB	Otitis media	HP:0000388
1536	CYBB	Recurrent pneumonia	HP:0006532
1536	CYBB	Decreased activity of NADPH oxidase	HP:0003206
1536	CYBB	Sepsis	HP:0100806
1536	CYBB	Meningitis	HP:0001287
1536	CYBB	Recurrent mycobacterial infections	HP:0011274
1536	CYBB	Hypermelanotic macule	HP:0001034
1536	CYBB	X-linked recessive inheritance	HP:0001419
1536	CYBB	Granulomatosis	HP:0002955
1536	CYBB	Tracheoesophageal fistula	HP:0002575
1536	CYBB	Splenomegaly	HP:0001744
1536	CYBB	Eczematoid dermatitis	HP:0000976
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	Immunodeficiency	HP:0002721
1536	CYBB	Absence of bactericidal oxidative respiratory burst in phagocytes	HP:0002723
1536	CYBB	Recurrent Aspergillus infections	HP:0002724
1536	CYBB	Pyloric stenosis	HP:0002021
1536	CYBB	Juvenile onset	HP:0003621
1536	CYBB	Gingivitis	HP:0000230
1536	CYBB	Recurrent Staphylococcus aureus infections	HP:0002726
1536	CYBB	Malabsorption	HP:0002024
1536	CYBB	Rectal abscess	HP:0005224
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	Severe recurrent varicella	HP:0005428
1536	CYBB	Inflammatory abnormality of the eye	HP:0100533
1536	CYBB	Recurrent E. coli infections	HP:0002740
1536	CYBB	Recurrent Serratia marcescens infections	HP:0002741
1536	CYBB	Sinusitis	HP:0000246
1536	CYBB	Recurrent Klebsiella infections	HP:0002742
1536	CYBB	Discoid lupus rash	HP:0007417
1536	CYBB	Deficiency or absence of cytochrome b(-245)	HP:0003514
1537	CYC1	Encephalopathy	HP:0001298
1537	CYC1	Hyperammonemia	HP:0001987
1537	CYC1	Episodic ketoacidosis	HP:0005974
1537	CYC1	Increased serum lactate	HP:0002151
1537	CYC1	Autosomal recessive inheritance	HP:0000007
1537	CYC1	Lactic acidosis	HP:0003128
1537	CYC1	Acute hepatic failure	HP:0006554
1537	CYC1	Elevated hepatic transaminase	HP:0002910
140803	TRPM6	Tetany	HP:0001281
140803	TRPM6	Muscle spasm	HP:0003394
140803	TRPM6	Seizures	HP:0001250
140803	TRPM6	Hypocalcemia	HP:0002901
140803	TRPM6	Hypomagnesemia	HP:0002917
140803	TRPM6	Autosomal recessive inheritance	HP:0000007
140803	TRPM6	Infantile onset	HP:0003593
9731	CEP104	Abnormal electroretinogram	HP:0000512
9731	CEP104	Biparietal narrowing	HP:0004422
9731	CEP104	Autosomal recessive inheritance	HP:0000007
9731	CEP104	Gait disturbance	HP:0001288
9731	CEP104	Hand polydactyly	HP:0001161
9731	CEP104	Infantile onset	HP:0003593
9731	CEP104	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
9731	CEP104	Oral cleft	HP:0000202
9731	CEP104	Generalized hypotonia	HP:0001290
9731	CEP104	Aganglionic megacolon	HP:0002251
9731	CEP104	Polymicrogyria	HP:0002126
9731	CEP104	Anteverted nares	HP:0000463
9731	CEP104	Oculomotor apraxia	HP:0000657
9731	CEP104	Long face	HP:0000276
9731	CEP104	Scoliosis	HP:0002650
9731	CEP104	Abnormality of the hypothalamus-pituitary axis	HP:0000864
9731	CEP104	Situs inversus totalis	HP:0001696
9731	CEP104	Intellectual disability	HP:0001249
9731	CEP104	Seizures	HP:0001250
9731	CEP104	Ataxia	HP:0001251
9731	CEP104	Iris coloboma	HP:0000612
9731	CEP104	Muscular hypotonia	HP:0001252
9731	CEP104	Encephalocele	HP:0002084
9731	CEP104	Foot polydactyly	HP:0001829
9731	CEP104	Strabismus	HP:0000486
9731	CEP104	Cerebellar vermis hypoplasia	HP:0001320
9731	CEP104	Feeding difficulties in infancy	HP:0008872
9731	CEP104	Cerebellar hypoplasia	HP:0001321
9731	CEP104	Prominent nasal bridge	HP:0000426
9731	CEP104	Hydrocephalus	HP:0000238
9731	CEP104	Global developmental delay	HP:0001263
9731	CEP104	Abnormal form of the vertebral bodies	HP:0003312
9731	CEP104	Low-set ears	HP:0000369
9731	CEP104	Molar tooth sign on MRI	HP:0002419
9731	CEP104	Apnea	HP:0002104
9731	CEP104	Highly arched eyebrow	HP:0002553
9731	CEP104	Tremor	HP:0001337
9731	CEP104	Ptosis	HP:0000508
9731	CEP104	Episodic tachypnea	HP:0002876
9731	CEP104	Nystagmus	HP:0000639
1540	CYLD	Milia	HP:0001056
1540	CYLD	Papule	HP:0200034
1540	CYLD	Neoplasm of the skin	HP:0008069
1540	CYLD	Autosomal dominant inheritance	HP:0000006
1540	CYLD	Telangiectasia of the skin	HP:0100585
1540	CYLD	Neoplasm	HP:0002664
1540	CYLD	Subcutaneous nodule	HP:0001482
1540	CYLD	Adult onset	HP:0003581
1540	CYLD	Basal cell carcinoma	HP:0002671
116228	COX20	Hepatomegaly	HP:0002240
116228	COX20	Decreased liver function	HP:0001410
116228	COX20	Pigmentary retinopathy	HP:0000580
116228	COX20	Glycosuria	HP:0003076
116228	COX20	Autosomal recessive inheritance	HP:0000007
116228	COX20	Optic atrophy	HP:0000648
116228	COX20	Generalized hypotonia	HP:0001290
116228	COX20	Renal Fanconi syndrome	HP:0001994
116228	COX20	Increased intramyocellular lipid droplets	HP:0012240
116228	COX20	Heterogeneous	HP:0001425
116228	COX20	Mitochondrial inheritance	HP:0001427
116228	COX20	Sensorineural hearing impairment	HP:0000407
116228	COX20	Exercise intolerance	HP:0003546
116228	COX20	Aminoaciduria	HP:0003355
116228	COX20	Proteinuria	HP:0000093
116228	COX20	Intellectual disability	HP:0001249
116228	COX20	Seizures	HP:0001250
116228	COX20	Ataxia	HP:0001251
116228	COX20	Failure to thrive	HP:0001508
116228	COX20	Muscular hypotonia	HP:0001252
116228	COX20	Increased hepatocellular lipid droplets	HP:0006565
116228	COX20	Hyperphosphaturia	HP:0003109
116228	COX20	Hypertrophic cardiomyopathy	HP:0001639
116228	COX20	Increased serum lactate	HP:0002151
116228	COX20	Cytochrome C oxidase-negative muscle fibers	HP:0003688
116228	COX20	Global developmental delay	HP:0001263
116228	COX20	Anemia	HP:0001903
116228	COX20	Leukoencephalopathy	HP:0002352
116228	COX20	Respiratory distress	HP:0002098
116228	COX20	Motor delay	HP:0001270
116228	COX20	Lactic acidosis	HP:0003128
116228	COX20	Increased CSF lactate	HP:0002490
116228	COX20	Exertional dyspnea	HP:0002875
116228	COX20	Respiratory insufficiency due to muscle weakness	HP:0002747
116228	COX20	Renal tubular dysfunction	HP:0000124
116228	COX20	Ptosis	HP:0000508
26119	LDLRAP1	Precocious atherosclerosis	HP:0004416
26119	LDLRAP1	Renal artery stenosis	HP:0001920
26119	LDLRAP1	Heart murmur	HP:0030148
26119	LDLRAP1	Increased LDL cholesterol concentration	HP:0003141
26119	LDLRAP1	Hyperlipidemia	HP:0003077
26119	LDLRAP1	Autosomal recessive inheritance	HP:0000007
26119	LDLRAP1	Arthralgia	HP:0002829
26119	LDLRAP1	Angina pectoris	HP:0001681
26119	LDLRAP1	Abnormal internal carotid artery morphology	HP:3000062
26119	LDLRAP1	Abnormal eye physiology	HP:0012373
26119	LDLRAP1	Peripheral arterial stenosis	HP:0004950
26119	LDLRAP1	Supravalvular aortic stenosis	HP:0004381
26119	LDLRAP1	Abnormality of nervous system physiology	HP:0012638
26119	LDLRAP1	Renal steatosis	HP:0000799
26119	LDLRAP1	Cerebral artery atherosclerosis	HP:0007201
26119	LDLRAP1	Coronary artery aneurysm	HP:0030882
26119	LDLRAP1	Increased VLDL cholesterol concentration	HP:0003362
26119	LDLRAP1	Calcification of the aorta	HP:0004963
26119	LDLRAP1	Myocardial steatosis	HP:0006693
26119	LDLRAP1	Left ventricular dysfunction	HP:0005162
26119	LDLRAP1	Hypertriglyceridemia	HP:0002155
26119	LDLRAP1	Sudden cardiac death	HP:0001645
26119	LDLRAP1	Aortic atherosclerotic lesion	HP:0012397
26119	LDLRAP1	Dyspnea	HP:0002094
26119	LDLRAP1	Optic neuropathy	HP:0001138
26119	LDLRAP1	Hypercholesterolemia	HP:0003124
26119	LDLRAP1	Hepatic steatosis	HP:0001397
26119	LDLRAP1	Mitral regurgitation	HP:0001653
26119	LDLRAP1	Hypertension	HP:0000822
26119	LDLRAP1	Premature arteriosclerosis	HP:0005177
26119	LDLRAP1	Myocardial infarction	HP:0001658
26119	LDLRAP1	Tendon xanthomatosis	HP:0010874
26119	LDLRAP1	Premature coronary artery atherosclerosis	HP:0005181
26119	LDLRAP1	Atherosclerosis	HP:0002621
1545	CYP1B1	Ocular hypertension	HP:0007906
1545	CYP1B1	Abnormal Descemet membrane morphology	HP:0011490
1545	CYP1B1	Central opacification of the cornea	HP:0011493
1545	CYP1B1	Strabismus	HP:0000486
1545	CYP1B1	Primary congenital glaucoma	HP:0008007
1545	CYP1B1	Autosomal recessive inheritance	HP:0000007
1545	CYP1B1	Corneal neovascularization	HP:0011496
1545	CYP1B1	Late onset congenital glaucoma	HP:0008041
1545	CYP1B1	Subcapsular cataract	HP:0000523
1545	CYP1B1	Buphthalmos	HP:0000557
1545	CYP1B1	Heterogeneous	HP:0001425
1545	CYP1B1	Peters anomaly	HP:0000659
1545	CYP1B1	Glaucoma	HP:0000501
1545	CYP1B1	Corneal opacity	HP:0007957
1545	CYP1B1	Thinning of Descemet membrane	HP:0031159
1545	CYP1B1	Anterior synechiae of the anterior chamber	HP:0011483
1545	CYP1B1	Visual loss	HP:0000572
1545	CYP1B1	Nevus flammeus	HP:0001052
1545	CYP1B1	Posterior synechiae of the anterior chamber	HP:0011484
1545	CYP1B1	Retinal detachment	HP:0000541
1545	CYP1B1	Developmental glaucoma	HP:0001087
1545	CYP1B1	Nystagmus	HP:0000639
26121	PRPF31	Abnormal electroretinogram	HP:0000512
26121	PRPF31	Hyperreflexia	HP:0001347
26121	PRPF31	Cataract	HP:0000518
26121	PRPF31	Autosomal dominant inheritance	HP:0000006
26121	PRPF31	Hypogonadism	HP:0000135
26121	PRPF31	Optic atrophy	HP:0000648
26121	PRPF31	Hyperinsulinemia	HP:0000842
26121	PRPF31	Anteverted nares	HP:0000463
26121	PRPF31	Conductive hearing impairment	HP:0000405
26121	PRPF31	Nyctalopia	HP:0000662
26121	PRPF31	Sensorineural hearing impairment	HP:0000407
26121	PRPF31	Abnormality of retinal pigmentation	HP:0007703
26121	PRPF31	Ophthalmoplegia	HP:0000602
26121	PRPF31	Type II diabetes mellitus	HP:0005978
26121	PRPF31	Atypical scarring of skin	HP:0000987
26121	PRPF31	Optic disc pallor	HP:0000543
26121	PRPF31	Hypoplasia of penis	HP:0008736
26121	PRPF31	Intellectual disability	HP:0001249
26121	PRPF31	Abnormal testis morphology	HP:0000035
26121	PRPF31	Photophobia	HP:0000613
26121	PRPF31	Perifoveal ring of hyperautofluorescence	HP:0030629
26121	PRPF31	Obesity	HP:0001513
26121	PRPF31	Macular atrophy	HP:0007401
26121	PRPF31	Blindness	HP:0000618
26121	PRPF31	Constriction of peripheral visual field	HP:0001133
26121	PRPF31	Abnormal retinal vascular morphology	HP:0008046
26121	PRPF31	Wide nasal bridge	HP:0000431
26121	PRPF31	Reduced visual acuity	HP:0007663
26121	PRPF31	Macular edema	HP:0040049
26121	PRPF31	Keratoconus	HP:0000563
26121	PRPF31	Glaucoma	HP:0000501
26121	PRPF31	Incomplete penetrance	HP:0003829
26121	PRPF31	Bone spicule pigmentation of the retina	HP:0007737
26121	PRPF31	Progressive night blindness	HP:0007675
26121	PRPF31	Rod-cone dystrophy	HP:0000510
26121	PRPF31	Nystagmus	HP:0000639
26123	TCTN3	Central Y-shaped metacarpal	HP:0006145
26123	TCTN3	Microtia, third degree	HP:0011267
26123	TCTN3	Autosomal recessive inheritance	HP:0000007
26123	TCTN3	Perineal fistula	HP:0004871
26123	TCTN3	Gait disturbance	HP:0001288
26123	TCTN3	Hypoplastic toenails	HP:0001800
26123	TCTN3	Proptosis	HP:0000520
26123	TCTN3	Generalized hypotonia	HP:0001290
26123	TCTN3	Cerebral atrophy	HP:0002059
26123	TCTN3	Primary adrenal insufficiency	HP:0008207
26123	TCTN3	Long face	HP:0000276
26123	TCTN3	Retrognathia	HP:0000278
26123	TCTN3	Hamartoma of tongue	HP:0011802
26123	TCTN3	Oligohydramnios	HP:0001562
26123	TCTN3	Epicanthus	HP:0000286
26123	TCTN3	Decreased testicular size	HP:0008734
26123	TCTN3	Foot polydactyly	HP:0001829
26123	TCTN3	Cerebellar vermis hypoplasia	HP:0001320
26123	TCTN3	Pulmonary hypoplasia	HP:0002089
26123	TCTN3	Oral synechia	HP:0010285
26123	TCTN3	Specific learning disability	HP:0001328
26123	TCTN3	Esotropia	HP:0000565
26123	TCTN3	Apnea	HP:0002104
26123	TCTN3	Bilateral lung agenesis	HP:0005944
26123	TCTN3	Tremor	HP:0001337
26123	TCTN3	Hypertelorism	HP:0000316
26123	TCTN3	Episodic tachypnea	HP:0002876
26123	TCTN3	Laryngomalacia	HP:0001601
26123	TCTN3	Short philtrum	HP:0000322
26123	TCTN3	Biparietal narrowing	HP:0004422
26123	TCTN3	Hamartoma	HP:0010566
26123	TCTN3	Finger clinodactyly	HP:0040019
26123	TCTN3	Porencephalic cyst	HP:0002132
26123	TCTN3	Horseshoe kidney	HP:0000085
26123	TCTN3	Micrognathia	HP:0000347
26123	TCTN3	Abnormal heart morphology	HP:0001627
26123	TCTN3	Ventricular septal defect	HP:0001629
26123	TCTN3	Joint dislocation	HP:0001373
26123	TCTN3	Camptodactyly	HP:0012385
26123	TCTN3	Posteriorly rotated ears	HP:0000358
26123	TCTN3	Short tibia	HP:0005736
26123	TCTN3	Renal agenesis	HP:0000104
26123	TCTN3	Joint laxity	HP:0001388
26123	TCTN3	Low-set, posteriorly rotated ears	HP:0000368
26123	TCTN3	Low-set ears	HP:0000369
26123	TCTN3	Molar tooth sign on MRI	HP:0002419
26123	TCTN3	Midline notch of upper alveolar ridge	HP:0009084
26123	TCTN3	Hypoplasia of olfactory tract	HP:0007036
26123	TCTN3	Short nose	HP:0003196
26123	TCTN3	Subcortical cerebral atrophy	HP:0012157
26123	TCTN3	Nystagmus	HP:0000639
26123	TCTN3	Clinodactyly	HP:0030084
26123	TCTN3	Brachydactyly	HP:0001156
26123	TCTN3	Syndactyly	HP:0001159
26123	TCTN3	Hand polydactyly	HP:0001161
26123	TCTN3	Postaxial hand polydactyly	HP:0001162
26123	TCTN3	Camptodactyly of finger	HP:0100490
26123	TCTN3	Hypothalamic hamartoma	HP:0002444
26123	TCTN3	Aplasia/Hypoplasia of the tibia	HP:0005772
26123	TCTN3	Rectovaginal fistula	HP:0000143
26123	TCTN3	High, narrow palate	HP:0002705
26123	TCTN3	Split hand	HP:0001171
26123	TCTN3	Monorchism	HP:0030868
26123	TCTN3	Conductive hearing impairment	HP:0000405
26123	TCTN3	Preaxial hand polydactyly	HP:0001177
26123	TCTN3	Genu varum	HP:0002970
26123	TCTN3	Abnormality of the tongue	HP:0000157
26123	TCTN3	Recurrent respiratory infections	HP:0002205
26123	TCTN3	Median cleft lip	HP:0000161
26123	TCTN3	Postaxial polydactyly	HP:0100259
26123	TCTN3	Preaxial polydactyly	HP:0100258
26123	TCTN3	Short finger	HP:0009381
26123	TCTN3	Mesoaxial polydactyly	HP:0100260
26123	TCTN3	Micromelia	HP:0002983
26123	TCTN3	Feeding difficulties in infancy	HP:0008872
26123	TCTN3	Abnormality of the gingiva	HP:0000168
26123	TCTN3	Prominent nasal bridge	HP:0000426
26123	TCTN3	Cleft palate	HP:0000175
26123	TCTN3	Submucous cleft hard palate	HP:0000176
26123	TCTN3	Lobulated tongue	HP:0000180
26123	TCTN3	Severe short stature	HP:0003510
26123	TCTN3	Wide nose	HP:0000445
26123	TCTN3	Abnormal oral frenulum morphology	HP:0000190
26123	TCTN3	Accessory oral frenulum	HP:0000191
26123	TCTN3	Kyphoscoliosis	HP:0002751
26123	TCTN3	Rectal atresia	HP:0025023
26123	TCTN3	Feeding difficulties	HP:0011968
26123	TCTN3	Bifid uvula	HP:0000193
26123	TCTN3	Choanal atresia	HP:0000453
26123	TCTN3	Tongue nodules	HP:0000199
26123	TCTN3	Broad nasal tip	HP:0000455
26123	TCTN3	Depressed nasal ridge	HP:0000457
26123	TCTN3	Polydactyly	HP:0010442
26123	TCTN3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
26123	TCTN3	Finger syndactyly	HP:0006101
26123	TCTN3	Cerebral cortical hemiatrophy	HP:0100308
26123	TCTN3	Frontal bossing	HP:0002007
26123	TCTN3	Abnormality of cardiovascular system morphology	HP:0030680
26123	TCTN3	High palate	HP:0000218
26123	TCTN3	Abnormality of neuronal migration	HP:0002269
26123	TCTN3	Intellectual disability	HP:0001249
26123	TCTN3	Short stature	HP:0004322
26123	TCTN3	Seizures	HP:0001250
26123	TCTN3	Ataxia	HP:0001251
26123	TCTN3	Failure to thrive	HP:0001508
26123	TCTN3	Absent testis	HP:0010469
26123	TCTN3	Intrauterine growth retardation	HP:0001511
26123	TCTN3	Anal atresia	HP:0002023
26123	TCTN3	Toe syndactyly	HP:0001770
26123	TCTN3	Global developmental delay	HP:0001263
26123	TCTN3	Abnormality of eye movement	HP:0000496
26123	TCTN3	Bilateral cryptorchidism	HP:0008689
26123	TCTN3	Absent crus of helix	HP:0011255
26123	TCTN3	Highly arched eyebrow	HP:0002553
26123	TCTN3	Microcephaly	HP:0000252
26123	TCTN3	Pectus excavatum	HP:0000767
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
9742	IFT140	Abnormal electroretinogram	HP:0000512
9742	IFT140	Short femoral neck	HP:0100864
9742	IFT140	Brachydactyly	HP:0001156
9742	IFT140	Abnormality of the ribs	HP:0000772
9742	IFT140	Short ribs	HP:0000773
9742	IFT140	Cataract	HP:0000518
9742	IFT140	Narrow chest	HP:0000774
9742	IFT140	Autosomal recessive inheritance	HP:0000007
9742	IFT140	Hypogonadism	HP:0000135
9742	IFT140	Optic atrophy	HP:0000648
9742	IFT140	Infantile onset	HP:0003593
9742	IFT140	Postaxial hand polydactyly	HP:0001162
9742	IFT140	Progressive visual loss	HP:0000529
9742	IFT140	Hypoplasia of the capital femoral epiphysis	HP:0003090
9742	IFT140	Conductive hearing impairment	HP:0000405
9742	IFT140	Hemiplegia/hemiparesis	HP:0004374
9742	IFT140	Sensorineural hearing impairment	HP:0000407
9742	IFT140	Abnormality of retinal pigmentation	HP:0007703
9742	IFT140	Wide mouth	HP:0000154
9742	IFT140	Macroglossia	HP:0000158
9742	IFT140	Hypoplasia of penis	HP:0008736
9742	IFT140	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
9742	IFT140	Abnormal testis morphology	HP:0000035
9742	IFT140	Encephalocele	HP:0002084
9742	IFT140	Postaxial foot polydactyly	HP:0001830
9742	IFT140	Micromelia	HP:0002983
9742	IFT140	Feeding difficulties in infancy	HP:0008872
9742	IFT140	Respiratory insufficiency	HP:0002093
9742	IFT140	Widely spaced teeth	HP:0000687
9742	IFT140	Wide nasal bridge	HP:0000431
9742	IFT140	Aplasia/Hypoplasia of the lungs	HP:0006703
9742	IFT140	Abnormality of the metaphysis	HP:0000944
9742	IFT140	Microdontia	HP:0000691
9742	IFT140	Keratoconus	HP:0000563
9742	IFT140	Visual loss	HP:0000572
9742	IFT140	Cognitive impairment	HP:0100543
9742	IFT140	Stage 5 chronic kidney disease	HP:0003774
9742	IFT140	Hepatomegaly	HP:0002240
9742	IFT140	Bifid uvula	HP:0000193
9742	IFT140	Short thorax	HP:0010306
9742	IFT140	Hyperreflexia	HP:0001347
9742	IFT140	Hyperinsulinemia	HP:0000842
9742	IFT140	Short phalanx of finger	HP:0009803
9742	IFT140	Scaphocephaly	HP:0030799
9742	IFT140	Anteverted nares	HP:0000463
9742	IFT140	Cone-shaped epiphysis	HP:0010579
9742	IFT140	Craniosynostosis	HP:0001363
9742	IFT140	Renal insufficiency	HP:0000083
9742	IFT140	Prominent forehead	HP:0011220
9742	IFT140	Abnormality of pelvic girdle bone morphology	HP:0002644
9742	IFT140	Narrow forehead	HP:0000341
9742	IFT140	Frontal bossing	HP:0002007
9742	IFT140	High palate	HP:0000218
9742	IFT140	Nephronophthisis	HP:0000090
9742	IFT140	Ophthalmoplegia	HP:0000602
9742	IFT140	Type II diabetes mellitus	HP:0005978
9742	IFT140	Atypical scarring of skin	HP:0000987
9742	IFT140	Skeletal dysplasia	HP:0002652
9742	IFT140	Abnormality of neuronal migration	HP:0002269
9742	IFT140	Intellectual disability	HP:0001249
9742	IFT140	Short stature	HP:0004322
9742	IFT140	Seizures	HP:0001250
9742	IFT140	Ataxia	HP:0001251
9742	IFT140	Muscular hypotonia	HP:0001252
9742	IFT140	Photophobia	HP:0000613
9742	IFT140	Obesity	HP:0001513
9742	IFT140	Macular atrophy	HP:0007401
9742	IFT140	Blindness	HP:0000618
9742	IFT140	Toe syndactyly	HP:0001770
9742	IFT140	Renal cyst	HP:0000107
9742	IFT140	Hearing impairment	HP:0000365
9742	IFT140	Short foot	HP:0001773
9742	IFT140	Renal dysplasia	HP:0000110
9742	IFT140	Abnormal retinal vascular morphology	HP:0008046
9742	IFT140	Anemia	HP:0001903
9742	IFT140	Global developmental delay	HP:0001263
9742	IFT140	Nephropathy	HP:0000112
9742	IFT140	Abnormality of the liver	HP:0001392
9742	IFT140	Trigonocephaly	HP:0000243
9742	IFT140	Hepatic fibrosis	HP:0001395
9742	IFT140	Cholestasis	HP:0001396
9742	IFT140	Glaucoma	HP:0000501
9742	IFT140	Severely reduced visual acuity	HP:0001141
9742	IFT140	Abnormality of the clavicle	HP:0000889
9742	IFT140	Progressive night blindness	HP:0007675
9742	IFT140	Abnormality of the optic disc	HP:0012795
9742	IFT140	Microcephaly	HP:0000252
9742	IFT140	Rod-cone dystrophy	HP:0000510
9742	IFT140	Abnormality of the sternum	HP:0000766
9742	IFT140	Nystagmus	HP:0000639
91662	NLRP12	Urticaria	HP:0001025
91662	NLRP12	Recurrent fever	HP:0001954
91662	NLRP12	Recurrent aphthous stomatitis	HP:0011107
91662	NLRP12	Autosomal dominant inheritance	HP:0000006
91662	NLRP12	Infantile onset	HP:0003593
91662	NLRP12	Abdominal pain	HP:0002027
91662	NLRP12	Headache	HP:0002315
91662	NLRP12	Arthralgia	HP:0002829
91662	NLRP12	Incomplete penetrance	HP:0003829
91662	NLRP12	Sensorineural hearing impairment	HP:0000407
91662	NLRP12	Arthritis	HP:0001369
91662	NLRP12	Lymphocytosis	HP:0100827
91662	NLRP12	Elevated C-reactive protein level	HP:0011227
91662	NLRP12	Skin rash	HP:0000988
91662	NLRP12	Lymphadenopathy	HP:0002716
91662	NLRP12	Myalgia	HP:0003326
26128	KIF1BP	Corneal ulceration	HP:0012804
26128	KIF1BP	Clinodactyly	HP:0030084
26128	KIF1BP	Sparse hair	HP:0008070
26128	KIF1BP	Autosomal recessive inheritance	HP:0000007
26128	KIF1BP	Generalized hypotonia	HP:0001290
26128	KIF1BP	Macrotia	HP:0000400
26128	KIF1BP	Pachygyria	HP:0001302
26128	KIF1BP	Sparse and thin eyebrow	HP:0000535
26128	KIF1BP	Synophrys	HP:0000664
26128	KIF1BP	Bulbous nose	HP:0000414
26128	KIF1BP	Tapered finger	HP:0001182
26128	KIF1BP	Hypoplasia of the corpus callosum	HP:0002079
26128	KIF1BP	Sparse scalp hair	HP:0002209
26128	KIF1BP	Prominent nasal bridge	HP:0000426
26128	KIF1BP	Hypospadias	HP:0000047
26128	KIF1BP	Cleft palate	HP:0000175
26128	KIF1BP	Wide nasal bridge	HP:0000431
26128	KIF1BP	Bifid scrotum	HP:0000048
26128	KIF1BP	Specific learning disability	HP:0001328
26128	KIF1BP	Pointed chin	HP:0000307
26128	KIF1BP	Thick vermilion border	HP:0012471
26128	KIF1BP	Hypertelorism	HP:0000316
26128	KIF1BP	Hypoplasia of the brainstem	HP:0002365
26128	KIF1BP	Thick eyebrow	HP:0000574
26128	KIF1BP	Short philtrum	HP:0000322
26128	KIF1BP	Ventriculomegaly	HP:0002119
26128	KIF1BP	Hypoplasia of the maxilla	HP:0000327
26128	KIF1BP	Aganglionic megacolon	HP:0002251
26128	KIF1BP	Polymicrogyria	HP:0002126
26128	KIF1BP	Blue sclerae	HP:0000592
26128	KIF1BP	Wide intermamillary distance	HP:0006610
26128	KIF1BP	Sloping forehead	HP:0000340
26128	KIF1BP	Finger syndactyly	HP:0006101
26128	KIF1BP	Short neck	HP:0000470
26128	KIF1BP	Corneal erosion	HP:0200020
26128	KIF1BP	Intellectual disability	HP:0001249
26128	KIF1BP	Seizures	HP:0001250
26128	KIF1BP	Short stature	HP:0004322
26128	KIF1BP	Muscular hypotonia	HP:0001252
26128	KIF1BP	Iris coloboma	HP:0000612
26128	KIF1BP	Megalocornea	HP:0000485
26128	KIF1BP	Everted lower lip vermilion	HP:0000232
26128	KIF1BP	Downslanted palpebral fissures	HP:0000494
26128	KIF1BP	Global developmental delay	HP:0001263
26128	KIF1BP	Low-set ears	HP:0000369
26128	KIF1BP	Small hand	HP:0200055
26128	KIF1BP	Highly arched eyebrow	HP:0002553
26128	KIF1BP	Congenital onset	HP:0003577
26128	KIF1BP	Telecanthus	HP:0000506
26128	KIF1BP	Microcephaly	HP:0000252
26128	KIF1BP	Ptosis	HP:0000508
1557	CYP2C19	Autosomal recessive inheritance	HP:0000007
83479	DDX59	Crossed fused renal ectopia	HP:0004736
83479	DDX59	Bifid uvula	HP:0000193
83479	DDX59	Agenesis of canine	HP:0012738
83479	DDX59	Autosomal recessive inheritance	HP:0000007
83479	DDX59	Ectopic accessory finger-like appendage	HP:0010441
83479	DDX59	Postaxial hand polydactyly	HP:0001162
83479	DDX59	Aganglionic megacolon	HP:0002251
83479	DDX59	High, narrow palate	HP:0002705
83479	DDX59	Frontal bossing	HP:0002007
83479	DDX59	Hypoplasia of dental enamel	HP:0006297
83479	DDX59	Scoliosis	HP:0002650
83479	DDX59	Hypodontia	HP:0000668
83479	DDX59	Abnormality of the philtrum	HP:0000288
83479	DDX59	Intellectual disability	HP:0001249
83479	DDX59	Median cleft lip	HP:0000161
83479	DDX59	Tetralogy of Fallot	HP:0001636
83479	DDX59	Postaxial foot polydactyly	HP:0001830
83479	DDX59	Non-midline cleft lip	HP:0100335
83479	DDX59	Cleft palate	HP:0000175
83479	DDX59	Absent cupid's bow	HP:0010800
83479	DDX59	Lobulated tongue	HP:0000180
83479	DDX59	Bifid tongue	HP:0010297
83479	DDX59	Postaxial polysyndactyly of foot	HP:0005817
83479	DDX59	Cleft soft palate	HP:0000185
83479	DDX59	Agenesis of corpus callosum	HP:0001274
83479	DDX59	Hypertelorism	HP:0000316
83479	DDX59	Microcephaly	HP:0000252
83479	DDX59	Increased number of teeth	HP:0011069
83479	DDX59	Accessory oral frenulum	HP:0000191
9750	RIPOR2	Autosomal recessive inheritance	HP:0000007
9750	RIPOR2	Prelingual sensorineural hearing impairment	HP:0000399
1559	CYP2C9	Abnormality of metabolism/homeostasis	HP:0001939
1559	CYP2C9	Autosomal dominant inheritance	HP:0000006
1559	CYP2C9	Abnormality of blood and blood-forming tissues	HP:0001871
26137	ZBTB20	Macrocephaly	HP:0000256
26137	ZBTB20	Posterior scalloping of vertebral bodies	HP:0005121
26137	ZBTB20	Gynecomastia	HP:0000771
26137	ZBTB20	Neurodegeneration	HP:0002180
26137	ZBTB20	Anonychia	HP:0001798
26137	ZBTB20	Cataract	HP:0000518
26137	ZBTB20	Narrow chest	HP:0000774
26137	ZBTB20	Autosomal dominant inheritance	HP:0000006
26137	ZBTB20	Hypogonadism	HP:0000135
26137	ZBTB20	Gait disturbance	HP:0001288
26137	ZBTB20	Generalized hypotonia	HP:0001290
26137	ZBTB20	Macrotia	HP:0000400
26137	ZBTB20	Malar flattening	HP:0000272
26137	ZBTB20	Conductive hearing impairment	HP:0000405
26137	ZBTB20	Synophrys	HP:0000664
26137	ZBTB20	Midface retrusion	HP:0011800
26137	ZBTB20	Downturned corners of mouth	HP:0002714
26137	ZBTB20	Short distal phalanx of finger	HP:0009882
26137	ZBTB20	Bone cyst	HP:0012062
26137	ZBTB20	Hypoplasia of the corpus callosum	HP:0002079
26137	ZBTB20	Narrow mouth	HP:0000160
26137	ZBTB20	Sporadic	HP:0003745
26137	ZBTB20	Sparse scalp hair	HP:0002209
26137	ZBTB20	Truncal obesity	HP:0001956
26137	ZBTB20	Genu valgum	HP:0002857
26137	ZBTB20	Osteoporosis	HP:0000939
26137	ZBTB20	Absent axillary hair	HP:0002221
26137	ZBTB20	Abnormal palate morphology	HP:0000174
26137	ZBTB20	Hypergonadotropic hypogonadism	HP:0000815
26137	ZBTB20	Metatarsus adductus	HP:0001840
26137	ZBTB20	Diabetes mellitus	HP:0000819
26137	ZBTB20	Thick lower lip vermilion	HP:0000179
26137	ZBTB20	Narrow iliac wings	HP:0002868
26137	ZBTB20	Hypoplasia of the maxilla	HP:0000327
26137	ZBTB20	Restlessness	HP:0000711
26137	ZBTB20	Developmental regression	HP:0002376
26137	ZBTB20	Hip contracture	HP:0003273
26137	ZBTB20	Plagiocephaly	HP:0001357
26137	ZBTB20	Autism	HP:0000717
26137	ZBTB20	Aggressive behavior	HP:0000718
26137	ZBTB20	Broad forehead	HP:0000337
26137	ZBTB20	Cerebral calcification	HP:0002514
26137	ZBTB20	Congenital hypothyroidism	HP:0000851
26137	ZBTB20	Scoliosis	HP:0002650
26137	ZBTB20	Posterior polar cataract	HP:0001115
26137	ZBTB20	Superiorly displaced ears	HP:0008541
26137	ZBTB20	Generalized osteoporosis	HP:0040160
26137	ZBTB20	Intellectual disability	HP:0001249
26137	ZBTB20	Pes cavus	HP:0001761
26137	ZBTB20	Short stature	HP:0004322
26137	ZBTB20	Seizures	HP:0001250
26137	ZBTB20	Irregular vertebral endplates	HP:0003301
26137	ZBTB20	Deeply set eye	HP:0000490
26137	ZBTB20	Knee flexion contracture	HP:0006380
26137	ZBTB20	Osteolysis	HP:0002797
26137	ZBTB20	Hearing impairment	HP:0000365
26137	ZBTB20	Self-injurious behavior	HP:0100716
26137	ZBTB20	Distal amyotrophy	HP:0003693
26137	ZBTB20	Hydrocephalus	HP:0000238
26137	ZBTB20	Downslanted palpebral fissures	HP:0000494
26137	ZBTB20	Calcification of the auricular cartilage	HP:0005103
26137	ZBTB20	Anemia	HP:0001903
26137	ZBTB20	Bilateral cryptorchidism	HP:0008689
26137	ZBTB20	Increased size of the mandible	HP:0040309
26137	ZBTB20	Absent facial hair	HP:0002550
26137	ZBTB20	Kyphosis	HP:0002808
26137	ZBTB20	Brachycephaly	HP:0000248
26137	ZBTB20	Ptosis	HP:0000508
26137	ZBTB20	Myopathy	HP:0003198
26137	ZBTB20	Basilar impression	HP:0005758
26137	ZBTB20	Pectus excavatum	HP:0000767
83480	PUS3	Strabismus	HP:0000486
83480	PUS3	Ventriculomegaly	HP:0002119
83480	PUS3	Autosomal recessive inheritance	HP:0000007
83480	PUS3	Coarse facial features	HP:0000280
83480	PUS3	Infantile onset	HP:0003593
83480	PUS3	Generalized hypotonia	HP:0001290
83480	PUS3	Intellectual disability, profound	HP:0002187
83480	PUS3	Cerebral atrophy	HP:0002059
83480	PUS3	Microcephaly	HP:0000252
83480	PUS3	Arachnoid cyst	HP:0100702
83480	PUS3	Global developmental delay	HP:0001263
83483	PLVAP	Hypoalbuminemia	HP:0003073
83483	PLVAP	Pericardial effusion	HP:0001698
83483	PLVAP	Protein-losing enteropathy	HP:0002243
83483	PLVAP	Hypothyroidism	HP:0000821
83483	PLVAP	Hypomagnesemia	HP:0002917
83483	PLVAP	Hypocalcemia	HP:0002901
83483	PLVAP	Hyponatremia	HP:0002902
83483	PLVAP	Polyuria	HP:0000103
83483	PLVAP	Secretory diarrhea	HP:0005208
83483	PLVAP	Hypertriglyceridemia	HP:0002155
83483	PLVAP	Hematochezia	HP:0002573
83483	PLVAP	Renal dysplasia	HP:0000110
50717	DCAF8	Pes cavus	HP:0001761
50717	DCAF8	Areflexia	HP:0001284
50717	DCAF8	Hammertoe	HP:0001765
50717	DCAF8	Cardiomyopathy	HP:0001638
50717	DCAF8	Autosomal dominant inheritance	HP:0000006
50717	DCAF8	Impaired distal vibration sensation	HP:0006886
50717	DCAF8	Decreased motor nerve conduction velocity	HP:0003431
50717	DCAF8	Distal amyotrophy	HP:0003693
50717	DCAF8	Steppage gait	HP:0003376
50717	DCAF8	Hyporeflexia	HP:0001265
50717	DCAF8	EMG: chronic denervation signs	HP:0003444
50717	DCAF8	Peripheral axonal neuropathy	HP:0003477
50717	DCAF8	Onion bulb formation	HP:0003383
50717	DCAF8	Impaired distal tactile sensation	HP:0006937
50717	DCAF8	Distal muscle weakness	HP:0002460
9757	KMT2B	Short stature	HP:0004322
9757	KMT2B	Astigmatism	HP:0000483
9757	KMT2B	Autosomal dominant inheritance	HP:0000006
9757	KMT2B	Spasticity	HP:0001257
9757	KMT2B	Dysarthria	HP:0001260
9757	KMT2B	Global developmental delay	HP:0001263
9757	KMT2B	Retrocollis	HP:0002544
9757	KMT2B	Abnormality of eye movement	HP:0000496
9757	KMT2B	Oromandibular dystonia	HP:0012048
9757	KMT2B	Laryngeal dystonia	HP:0012049
9757	KMT2B	Toe walking	HP:0040083
9757	KMT2B	Incomplete penetrance	HP:0003829
9757	KMT2B	Motor delay	HP:0001270
9757	KMT2B	Myoclonus	HP:0001336
9757	KMT2B	Progressive	HP:0003676
9757	KMT2B	Microcephaly	HP:0000252
9757	KMT2B	Cognitive impairment	HP:0100543
9757	KMT2B	Bulbous nose	HP:0000414
9758	FRMPD4	Delayed myelination	HP:0012448
9758	FRMPD4	Delayed ability to walk	HP:0031936
9758	FRMPD4	Absent speech	HP:0001344
9758	FRMPD4	Intellectual disability	HP:0001249
9758	FRMPD4	Seizures	HP:0001250
9758	FRMPD4	Ataxia	HP:0001251
9758	FRMPD4	Hyperreflexia	HP:0001347
9758	FRMPD4	Strabismus	HP:0000486
9758	FRMPD4	Optic atrophy	HP:0000648
9758	FRMPD4	Cerebral cortical atrophy	HP:0002120
9758	FRMPD4	Spasticity	HP:0001257
9758	FRMPD4	Infantile onset	HP:0003593
9758	FRMPD4	X-linked recessive inheritance	HP:0001419
9758	FRMPD4	Aggressive behavior	HP:0000718
9758	FRMPD4	Global developmental delay	HP:0001263
9758	FRMPD4	Hyperactivity	HP:0000752
9758	FRMPD4	Poor eye contact	HP:0000817
9758	FRMPD4	Retrognathia	HP:0000278
9758	FRMPD4	Tremor	HP:0001337
9758	FRMPD4	High forehead	HP:0000348
9758	FRMPD4	Nystagmus	HP:0000639
9758	FRMPD4	Hypoplasia of the corpus callosum	HP:0002079
9759	HDAC4	Macrocephaly	HP:0000256
9759	HDAC4	Umbilical hernia	HP:0001537
9759	HDAC4	Multicystic kidney dysplasia	HP:0000003
9759	HDAC4	Brachydactyly	HP:0001156
9759	HDAC4	Congenital diaphragmatic hernia	HP:0000776
9759	HDAC4	Broad columella	HP:0010761
9759	HDAC4	Abnormal aortic morphology	HP:0001679
9759	HDAC4	Conductive hearing impairment	HP:0000405
9759	HDAC4	Sparse and thin eyebrow	HP:0000535
9759	HDAC4	Midface retrusion	HP:0011800
9759	HDAC4	Downturned corners of mouth	HP:0002714
9759	HDAC4	Depressed nasal bridge	HP:0005280
9759	HDAC4	Sparse scalp hair	HP:0002209
9759	HDAC4	Underdeveloped nasal alae	HP:0000430
9759	HDAC4	Bilateral single transverse palmar creases	HP:0007598
9759	HDAC4	Round face	HP:0000311
9759	HDAC4	Short palm	HP:0004279
9759	HDAC4	Sleep disturbance	HP:0002360
9759	HDAC4	Joint hyperflexibility	HP:0005692
9759	HDAC4	Laryngomalacia	HP:0001601
9759	HDAC4	Short metacarpal	HP:0010049
9759	HDAC4	Eczema	HP:0000964
9759	HDAC4	Upslanted palpebral fissure	HP:0000582
9759	HDAC4	Autism	HP:0000717
9759	HDAC4	Anteverted nares	HP:0000463
9759	HDAC4	Obsessive-compulsive behavior	HP:0000722
9759	HDAC4	Wide intermamillary distance	HP:0006610
9759	HDAC4	Finger syndactyly	HP:0006101
9759	HDAC4	Short neck	HP:0000470
9759	HDAC4	Frontal bossing	HP:0002007
9759	HDAC4	Tracheomalacia	HP:0002779
9759	HDAC4	Stereotypy	HP:0000733
9759	HDAC4	Intellectual disability	HP:0001249
9759	HDAC4	Seizures	HP:0001250
9759	HDAC4	Short stature	HP:0004322
9759	HDAC4	Muscular hypotonia	HP:0001252
9759	HDAC4	Pyloric stenosis	HP:0002021
9759	HDAC4	Thin vermilion border	HP:0000233
9759	HDAC4	Obesity	HP:0001513
9759	HDAC4	Toe syndactyly	HP:0001770
9759	HDAC4	Attention deficit hyperactivity disorder	HP:0007018
9759	HDAC4	Deeply set eye	HP:0000490
9759	HDAC4	Nephroblastoma	HP:0002667
9759	HDAC4	Short foot	HP:0001773
9759	HDAC4	Global developmental delay	HP:0001263
9759	HDAC4	Clinodactyly of the 5th finger	HP:0004209
9759	HDAC4	Small hand	HP:0200055
9759	HDAC4	Highly arched eyebrow	HP:0002553
9759	HDAC4	Microcephaly	HP:0000252
9759	HDAC4	Supernumerary nipple	HP:0002558
26146	TRAF3IP1	Cataract	HP:0000518
26146	TRAF3IP1	Autosomal recessive inheritance	HP:0000007
26146	TRAF3IP1	Hypogonadism	HP:0000135
26146	TRAF3IP1	Polydactyly	HP:0010442
26146	TRAF3IP1	Premature ovarian insufficiency	HP:0008209
26146	TRAF3IP1	Progressive visual loss	HP:0000529
26146	TRAF3IP1	Cone-shaped epiphysis	HP:0010579
26146	TRAF3IP1	Abnormality of retinal pigmentation	HP:0007703
26146	TRAF3IP1	Nephronophthisis	HP:0000090
26146	TRAF3IP1	Macular degeneration	HP:0000608
26146	TRAF3IP1	Short stature	HP:0004322
26146	TRAF3IP1	Hypoplasia of the femoral head	HP:0008802
26146	TRAF3IP1	Ataxia	HP:0001251
26146	TRAF3IP1	Strabismus	HP:0000486
26146	TRAF3IP1	Obesity	HP:0001513
26146	TRAF3IP1	Retinal dystrophy	HP:0000556
26146	TRAF3IP1	Global developmental delay	HP:0001263
26146	TRAF3IP1	Tubulointerstitial nephritis	HP:0001970
26146	TRAF3IP1	Hepatic fibrosis	HP:0001395
26146	TRAF3IP1	Congenital hepatic fibrosis	HP:0002612
26146	TRAF3IP1	Cholestasis	HP:0001396
26146	TRAF3IP1	Hypertension	HP:0000822
26146	TRAF3IP1	Abnormality of bone mineral density	HP:0004348
26146	TRAF3IP1	Stage 5 chronic kidney disease	HP:0003774
26146	TRAF3IP1	Rod-cone dystrophy	HP:0000510
26146	TRAF3IP1	Nystagmus	HP:0000639
124454	EARS2	Ragged-red muscle fibers	HP:0003200
124454	EARS2	Hepatomegaly	HP:0002240
124454	EARS2	Absent speech	HP:0001344
124454	EARS2	Spastic tetraparesis	HP:0001285
124454	EARS2	Autosomal recessive inheritance	HP:0000007
124454	EARS2	Developmental regression	HP:0002376
124454	EARS2	Infantile onset	HP:0003593
124454	EARS2	Dysplastic corpus callosum	HP:0006989
124454	EARS2	Decreased activity of mitochondrial complex I	HP:0011923
124454	EARS2	Bradykinesia	HP:0002067
124454	EARS2	Decreased activity of mitochondrial complex III	HP:0011924
124454	EARS2	Ophthalmoplegia	HP:0000602
124454	EARS2	Decreased activity of mitochondrial complex IV	HP:0008347
124454	EARS2	Hypoplasia of the corpus callosum	HP:0002079
124454	EARS2	Seizures	HP:0001250
124454	EARS2	Failure to thrive	HP:0001508
124454	EARS2	Neonatal hypotonia	HP:0001319
124454	EARS2	Increased serum lactate	HP:0002151
124454	EARS2	Global developmental delay	HP:0001263
124454	EARS2	Cleft palate	HP:0000175
124454	EARS2	Leukoencephalopathy	HP:0002352
124454	EARS2	Cholestasis	HP:0001396
124454	EARS2	Dystonia	HP:0001332
124454	EARS2	Lactic acidosis	HP:0003128
124454	EARS2	Visual impairment	HP:0000505
124454	EARS2	Macrovesicular hepatic steatosis	HP:0001403
124454	EARS2	Ptosis	HP:0000508
26154	ABCA12	Ichthyosis	HP:0008064
26154	ABCA12	Chronic otitis media	HP:0000389
26154	ABCA12	Cataract	HP:0000518
26154	ABCA12	Sparse hair	HP:0008070
26154	ABCA12	Congenital ichthyosiform erythroderma	HP:0007431
26154	ABCA12	Autosomal recessive inheritance	HP:0000007
26154	ABCA12	Proptosis	HP:0000520
26154	ABCA12	Hand polydactyly	HP:0001161
26154	ABCA12	Rigidity	HP:0002063
26154	ABCA12	Ectropion	HP:0000656
26154	ABCA12	Gangrene	HP:0100758
26154	ABCA12	Dehydration	HP:0001944
26154	ABCA12	Leukonychia	HP:0001820
26154	ABCA12	Recurrent respiratory infections	HP:0002205
26154	ABCA12	Abnormality of abdomen morphology	HP:0001438
26154	ABCA12	Abnormality of the helix	HP:0011039
26154	ABCA12	Abnormality of the dentition	HP:0000164
26154	ABCA12	Foot polydactyly	HP:0001829
26154	ABCA12	Short finger	HP:0009381
26154	ABCA12	Respiratory insufficiency	HP:0002093
26154	ABCA12	Eclabion	HP:0012472
26154	ABCA12	Alopecia	HP:0001596
26154	ABCA12	Abnormality of the nail	HP:0001597
26154	ABCA12	Dry skin	HP:0000958
26154	ABCA12	Cognitive impairment	HP:0100543
26154	ABCA12	Clubbing	HP:0001217
26154	ABCA12	Hyperkeratosis	HP:0000962
26154	ABCA12	Abnormality of the nervous system	HP:0000707
26154	ABCA12	Hypohidrosis	HP:0000966
26154	ABCA12	Lack of skin elasticity	HP:0100679
26154	ABCA12	Sepsis	HP:0100806
26154	ABCA12	Depressed nasal ridge	HP:0000457
26154	ABCA12	Renal insufficiency	HP:0000083
26154	ABCA12	Palmoplantar keratoderma	HP:0000982
26154	ABCA12	Premature birth	HP:0001622
26154	ABCA12	Corneal erosion	HP:0200020
26154	ABCA12	Pruritus	HP:0000989
26154	ABCA12	Limitation of joint mobility	HP:0001376
26154	ABCA12	Short stature	HP:0004322
26154	ABCA12	Failure to thrive	HP:0001508
26154	ABCA12	Everted lower lip vermilion	HP:0000232
26154	ABCA12	Aplasia/Hypoplasia of the eyebrow	HP:0100840
26154	ABCA12	Keratitis	HP:0000491
26154	ABCA12	Hearing abnormality	HP:0000364
26154	ABCA12	Self-injurious behavior	HP:0100716
26154	ABCA12	Sudden cardiac death	HP:0001645
26154	ABCA12	Hearing impairment	HP:0000365
26154	ABCA12	Hypotrichosis	HP:0001006
26154	ABCA12	Erythroderma	HP:0001019
26154	ABCA12	Malignant hyperthermia	HP:0002047
9772	TMEM94	Delayed ability to walk	HP:0031936
9772	TMEM94	Triangular face	HP:0000325
9772	TMEM94	Long fingers	HP:0100807
9772	TMEM94	Pulmonary artery atresia	HP:0004935
9772	TMEM94	Anteverted nares	HP:0000463
9772	TMEM94	Long toe	HP:0010511
9772	TMEM94	Synophrys	HP:0000664
9772	TMEM94	Cryptorchidism	HP:0000028
9772	TMEM94	Ventricular septal defect	HP:0001629
9772	TMEM94	Depressed nasal bridge	HP:0005280
9772	TMEM94	Myopia	HP:0000545
9772	TMEM94	Seizures	HP:0001250
9772	TMEM94	Tetralogy of Fallot	HP:0001636
9772	TMEM94	Strabismus	HP:0000486
9772	TMEM94	Pulmonary hypoplasia	HP:0002089
9772	TMEM94	Deeply set eye	HP:0000490
9772	TMEM94	Patent ductus arteriosus	HP:0001643
9772	TMEM94	Delayed speech and language development	HP:0000750
9772	TMEM94	Wide nasal bridge	HP:0000431
9772	TMEM94	Global developmental delay	HP:0001263
9772	TMEM94	Hypospadias	HP:0000047
9772	TMEM94	Low-set ears	HP:0000369
9772	TMEM94	Pointed chin	HP:0000307
9772	TMEM94	Overlapping toe	HP:0001845
9772	TMEM94	Cutaneous syndactyly	HP:0012725
9772	TMEM94	Patent foramen ovale	HP:0001655
9772	TMEM94	Double outlet right ventricle	HP:0001719
9772	TMEM94	Highly arched eyebrow	HP:0002553
9772	TMEM94	Hypertelorism	HP:0000316
9772	TMEM94	Overlapping fingers	HP:0010557
9772	TMEM94	Smooth philtrum	HP:0000319
1581	CYP7A1	Abnormality of vitamin E metabolism	HP:0100514
1581	CYP7A1	Increased LDL cholesterol concentration	HP:0003141
1581	CYP7A1	Obesity	HP:0001513
1581	CYP7A1	Hypertriglyceridemia	HP:0002155
1581	CYP7A1	Cholesterol gallstones	HP:0011980
1581	CYP7A1	Acute hepatic steatosis	HP:0006573
1581	CYP7A1	Coronary artery atherosclerosis	HP:0001677
1581	CYP7A1	Aortic atherosclerotic lesion	HP:0012397
1581	CYP7A1	Accelerated atherosclerosis	HP:0004943
1581	CYP7A1	Hepatitis	HP:0012115
1581	CYP7A1	Cholestasis	HP:0001396
1581	CYP7A1	Hypercholesterolemia	HP:0003124
1581	CYP7A1	Abnormality of vitamin A metabolism	HP:0008372
1581	CYP7A1	Macrovesicular hepatic steatosis	HP:0001403
345643	MCIDAS	Recurrent respiratory infections	HP:0002205
100131801	PET100	Decreased liver function	HP:0001410
100131801	PET100	Glycosuria	HP:0003076
100131801	PET100	Autosomal recessive inheritance	HP:0000007
100131801	PET100	Optic atrophy	HP:0000648
100131801	PET100	Generalized hypotonia	HP:0001290
100131801	PET100	Decreased activity of mitochondrial respiratory chain	HP:0008972
100131801	PET100	Focal T2 hyperintense basal ganglia lesion	HP:0007183
100131801	PET100	Heterogeneous	HP:0001425
100131801	PET100	Mitochondrial inheritance	HP:0001427
100131801	PET100	Sensorineural hearing impairment	HP:0000407
100131801	PET100	Progressive cerebellar ataxia	HP:0002073
100131801	PET100	Aminoaciduria	HP:0003355
100131801	PET100	Increased hepatocellular lipid droplets	HP:0006565
100131801	PET100	Hyperphosphaturia	HP:0003109
100131801	PET100	Leukoencephalopathy	HP:0002352
100131801	PET100	Respiratory distress	HP:0002098
100131801	PET100	Dystonia	HP:0001332
100131801	PET100	Apnea	HP:0002104
100131801	PET100	Lactic acidosis	HP:0003128
100131801	PET100	Increased CSF lactate	HP:0002490
100131801	PET100	Exertional dyspnea	HP:0002875
100131801	PET100	Respiratory insufficiency due to muscle weakness	HP:0002747
100131801	PET100	Hepatomegaly	HP:0002240
100131801	PET100	Hyperreflexia	HP:0001347
100131801	PET100	Pigmentary retinopathy	HP:0000580
100131801	PET100	Emotional lability	HP:0000712
100131801	PET100	Renal Fanconi syndrome	HP:0001994
100131801	PET100	Increased intramyocellular lipid droplets	HP:0012240
100131801	PET100	Ophthalmoplegia	HP:0000602
100131801	PET100	Exercise intolerance	HP:0003546
100131801	PET100	Ventricular septal defect	HP:0001629
100131801	PET100	Proteinuria	HP:0000093
100131801	PET100	Intellectual disability	HP:0001249
100131801	PET100	Seizures	HP:0001250
100131801	PET100	Ataxia	HP:0001251
100131801	PET100	Failure to thrive	HP:0001508
100131801	PET100	Muscular hypotonia	HP:0001252
100131801	PET100	Strabismus	HP:0000486
100131801	PET100	Hypertrichosis	HP:0000998
100131801	PET100	Peripheral neuropathy	HP:0009830
100131801	PET100	Increased serum lactate	HP:0002151
100131801	PET100	Hypertrophic cardiomyopathy	HP:0001639
100131801	PET100	Cytochrome C oxidase-negative muscle fibers	HP:0003688
100131801	PET100	Progressive spastic paraplegia	HP:0007020
100131801	PET100	Dysarthria	HP:0001260
100131801	PET100	Hearing impairment	HP:0000365
100131801	PET100	Anemia	HP:0001903
100131801	PET100	Global developmental delay	HP:0001263
100131801	PET100	Leukodystrophy	HP:0002415
100131801	PET100	Intellectual disability, severe	HP:0010864
100131801	PET100	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
100131801	PET100	Motor delay	HP:0001270
100131801	PET100	Ptosis	HP:0000508
100131801	PET100	Renal tubular dysfunction	HP:0000124
100131801	PET100	Nystagmus	HP:0000639
1583	CYP11A1	Gynecomastia	HP:0000771
1583	CYP11A1	Low maternal serum estriol	HP:0008073
1583	CYP11A1	Decreased circulating androgen level	HP:0030349
1583	CYP11A1	Decreased fertility	HP:0000144
1583	CYP11A1	Adrenal calcification	HP:0010512
1583	CYP11A1	Acidosis	HP:0001941
1583	CYP11A1	Generalized bronze hyperpigmentation	HP:0007574
1583	CYP11A1	Aplasia of the uterus	HP:0000151
1583	CYP11A1	Dehydration	HP:0001944
1583	CYP11A1	Female external genitalia in individual with 46,XY karyotype	HP:0008730
1583	CYP11A1	Cryptorchidism	HP:0000028
1583	CYP11A1	Decreased testicular size	HP:0008734
1583	CYP11A1	Ambiguous genitalia, male	HP:0000033
1583	CYP11A1	Induced vaginal delivery	HP:0030369
1583	CYP11A1	Abnormal circulating cholesterol concentration	HP:0003107
1583	CYP11A1	Abnormality of the Leydig cells	HP:0010789
1583	CYP11A1	Male pseudohermaphroditism	HP:0000037
1583	CYP11A1	Elevated circulating follicle stimulating hormone level	HP:0008232
1583	CYP11A1	Urogenital sinus anomaly	HP:0100779
1583	CYP11A1	Osteoporosis	HP:0000939
1583	CYP11A1	Midshaft hypospadias	HP:0012854
1583	CYP11A1	Abnormal urine potassium concentration	HP:0012598
1583	CYP11A1	Hypotension	HP:0002615
1583	CYP11A1	Delayed puberty	HP:0000823
1583	CYP11A1	Hyperpigmentation of the skin	HP:0000953
1583	CYP11A1	Hypernatriuria	HP:0012605
1583	CYP11A1	Delayed skeletal maturation	HP:0002750
1583	CYP11A1	Feeding difficulties	HP:0011968
1583	CYP11A1	Elevated circulating luteinizing hormone level	HP:0011969
1583	CYP11A1	Adrenal hypoplasia	HP:0000835
1583	CYP11A1	Adrenal insufficiency	HP:0000846
1583	CYP11A1	Neonatal hypoglycemia	HP:0001998
1583	CYP11A1	Increased circulating renin level	HP:0000848
1583	CYP11A1	Increased circulating ACTH level	HP:0003154
1583	CYP11A1	Sex reversal	HP:0012245
1583	CYP11A1	Hyponatremia	HP:0002902
1583	CYP11A1	Premature birth	HP:0001622
1583	CYP11A1	Clitoral hypertrophy	HP:0008665
1583	CYP11A1	Hyperaldosteronism	HP:0000859
1583	CYP11A1	Vomiting	HP:0002013
1583	CYP11A1	Decreased circulating aldosterone level	HP:0004319
1583	CYP11A1	Hypovolemia	HP:0011106
1583	CYP11A1	Decreased circulating cortisol level	HP:0008163
1583	CYP11A1	Failure to thrive	HP:0001508
1583	CYP11A1	Adrenocorticotropic hormone excess	HP:0011749
1583	CYP11A1	Hyperkalemia	HP:0002153
1583	CYP11A1	Agenesis of corpus callosum	HP:0001274
1583	CYP11A1	Absence of secondary sex characteristics	HP:0008187
1583	CYP11A1	Renal salt wasting	HP:0000127
9775	EIF4A3	Feeding difficulties	HP:0011968
9775	EIF4A3	Prominent nose	HP:0000448
9775	EIF4A3	Cleft mandible	HP:0010752
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	Hip dislocation	HP:0002827
9775	EIF4A3	Short phalanx of finger	HP:0009803
9775	EIF4A3	Radial deviation of the hand	HP:0009486
9775	EIF4A3	Tibial deviation of toes	HP:0100499
9775	EIF4A3	Mesomelia	HP:0003027
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	Protruding ear	HP:0000411
9775	EIF4A3	Hip subluxation	HP:0030043
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	Short tibia	HP:0005736
9775	EIF4A3	Abnormality of the aryepiglottic fold	HP:0008744
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
1584	CYP11B1	Gynecomastia	HP:0000771
1584	CYP11B1	Autosomal dominant inheritance	HP:0000006
1584	CYP11B1	Autosomal recessive inheritance	HP:0000007
1584	CYP11B1	Decreased fertility in males	HP:0012041
1584	CYP11B1	Headache	HP:0002315
1584	CYP11B1	Increased circulating androgen level	HP:0030348
1584	CYP11B1	Abnormality of the menstrual cycle	HP:0000140
1584	CYP11B1	Hypoplasia of the uterus	HP:0000013
1584	CYP11B1	Generalized hyperpigmentation	HP:0007440
1584	CYP11B1	Stroke	HP:0001297
1584	CYP11B1	Caesarian section	HP:0011410
1584	CYP11B1	Abnormal circulating renin	HP:0040084
1584	CYP11B1	Abnormal circulating aldosterone	HP:0040085
1584	CYP11B1	Hypoplasia of the vagina	HP:0008726
1584	CYP11B1	Decreased circulating renin level	HP:0003351
1584	CYP11B1	Adrenal hyperplasia	HP:0008221
1584	CYP11B1	Decreased testicular size	HP:0008734
1584	CYP11B1	Epistaxis	HP:0000421
1584	CYP11B1	Neonatal onset	HP:0003623
1584	CYP11B1	Polydipsia	HP:0001959
1584	CYP11B1	Long penis	HP:0000040
1584	CYP11B1	Urogenital sinus anomaly	HP:0100779
1584	CYP11B1	Abnormal EKG	HP:0003115
1584	CYP11B1	Osteoporosis	HP:0000939
1584	CYP11B1	Muscle weakness	HP:0001324
1584	CYP11B1	Abnormality of prenatal development or birth	HP:0001197
1584	CYP11B1	Hyperpigmented genitalia	HP:0030258
1584	CYP11B1	Hypertension	HP:0000822
1584	CYP11B1	Aortic root aneurysm	HP:0002616
1584	CYP11B1	Hyperpigmentation of the skin	HP:0000953
1584	CYP11B1	Ambiguous genitalia, female	HP:0000061
1584	CYP11B1	Hypernatriuria	HP:0012605
1584	CYP11B1	Female sexual dysfunction	HP:0030014
1584	CYP11B1	Delayed skeletal maturation	HP:0002750
1584	CYP11B1	Fused labia minora	HP:0000063
1584	CYP11B1	Feeding difficulties	HP:0011968
1584	CYP11B1	Congenital adrenal hyperplasia	HP:0008258
1584	CYP11B1	Adrenogenital syndrome	HP:0000840
1584	CYP11B1	Abnormality of the urinary system	HP:0000079
1584	CYP11B1	Abnormality of the labia majora	HP:0012881
1584	CYP11B1	Increased circulating ACTH level	HP:0003154
1584	CYP11B1	Hypokalemia	HP:0002900
1584	CYP11B1	Hyponatremia	HP:0002902
1584	CYP11B1	Clitoral hypertrophy	HP:0008665
1584	CYP11B1	Onset	HP:0003674
1584	CYP11B1	Hyperaldosteronism	HP:0000859
1584	CYP11B1	Dexamethasone-suppressible primary hyperaldosteronism	HP:0011739
1584	CYP11B1	Vomiting	HP:0002013
1584	CYP11B1	Ectopic adrenal gland	HP:0011742
1584	CYP11B1	Decreased circulating aldosterone level	HP:0004319
1584	CYP11B1	Hypervolemia	HP:0011105
1584	CYP11B1	Short stature	HP:0004322
1584	CYP11B1	Secretory adrenocortical adenoma	HP:0011746
1584	CYP11B1	Nausea	HP:0002018
1584	CYP11B1	Hypovolemia	HP:0011106
1584	CYP11B1	Tall stature	HP:0000098
1584	CYP11B1	Decreased circulating cortisol level	HP:0008163
1584	CYP11B1	Enlarged polycystic ovaries	HP:0008675
1584	CYP11B1	Abnormality of hair growth rate	HP:0011363
1584	CYP11B1	Decreased fertility in females	HP:0000868
1584	CYP11B1	Adrenocorticotropic hormone excess	HP:0011749
1584	CYP11B1	Tinnitus	HP:0000360
1584	CYP11B1	Hyperkalemia	HP:0002153
1584	CYP11B1	Hirsutism	HP:0001007
1584	CYP11B1	Accelerated skeletal maturation	HP:0005616
1584	CYP11B1	Bilateral cryptorchidism	HP:0008689
1584	CYP11B1	Accelerated bone age after puberty	HP:0002805
1584	CYP11B1	Precocious puberty in males	HP:0008185
1584	CYP11B1	Intracranial hemorrhage	HP:0002170
1584	CYP11B1	Preeclampsia	HP:0100602
1584	CYP11B1	Premature adrenarche	HP:0012412
1584	CYP11B1	Renal salt wasting	HP:0000127
26160	IFT172	Abnormal electroretinogram	HP:0000512
26160	IFT172	Skeletal muscle atrophy	HP:0003202
26160	IFT172	Multicystic kidney dysplasia	HP:0000003
26160	IFT172	Brachydactyly	HP:0001156
26160	IFT172	Abnormality of the ribs	HP:0000772
26160	IFT172	Short ribs	HP:0000773
26160	IFT172	Cataract	HP:0000518
26160	IFT172	Narrow chest	HP:0000774
26160	IFT172	Autosomal recessive inheritance	HP:0000007
26160	IFT172	Hypogonadism	HP:0000135
26160	IFT172	Optic atrophy	HP:0000648
26160	IFT172	Thoracic hypoplasia	HP:0005257
26160	IFT172	Postaxial hand polydactyly	HP:0001162
26160	IFT172	Oculomotor apraxia	HP:0000657
26160	IFT172	Hypoplasia of the ovary	HP:0008724
26160	IFT172	Conductive hearing impairment	HP:0000405
26160	IFT172	Nyctalopia	HP:0000662
26160	IFT172	Sensorineural hearing impairment	HP:0000407
26160	IFT172	Abnormality of retinal pigmentation	HP:0007703
26160	IFT172	Cryptorchidism	HP:0000028
26160	IFT172	Optic disc pallor	HP:0000543
26160	IFT172	Glucose intolerance	HP:0001952
26160	IFT172	Hypoplasia of penis	HP:0008736
26160	IFT172	Retinal degeneration	HP:0000546
26160	IFT172	Abnormal testis morphology	HP:0000035
26160	IFT172	Attenuation of retinal blood vessels	HP:0007843
26160	IFT172	Postaxial foot polydactyly	HP:0001830
26160	IFT172	Micromelia	HP:0002983
26160	IFT172	Cerebellar vermis hypoplasia	HP:0001320
26160	IFT172	Feeding difficulties in infancy	HP:0008872
26160	IFT172	Genu valgum	HP:0002857
26160	IFT172	Prominent nasal bridge	HP:0000426
26160	IFT172	Respiratory insufficiency	HP:0002093
26160	IFT172	Wide nasal bridge	HP:0000431
26160	IFT172	Aplasia/Hypoplasia of the lungs	HP:0006703
26160	IFT172	Abnormality of the metaphysis	HP:0000944
26160	IFT172	Keratoconus	HP:0000563
26160	IFT172	Hypertension	HP:0000822
26160	IFT172	Generalized hirsutism	HP:0002230
26160	IFT172	Bell-shaped thorax	HP:0001591
26160	IFT172	Hepatomegaly	HP:0002240
26160	IFT172	Short thorax	HP:0010306
26160	IFT172	Hyperreflexia	HP:0001347
26160	IFT172	Pigmentary retinopathy	HP:0000580
26160	IFT172	Pancreatitis	HP:0001733
26160	IFT172	Ventriculomegaly	HP:0002119
26160	IFT172	Edema	HP:0000969
26160	IFT172	Oral cleft	HP:0000202
26160	IFT172	Hyperinsulinemia	HP:0000842
26160	IFT172	Chronic kidney disease	HP:0012622
26160	IFT172	Anteverted nares	HP:0000463
26160	IFT172	Splenomegaly	HP:0001744
26160	IFT172	Short long bone	HP:0003026
26160	IFT172	Renal insufficiency	HP:0000083
26160	IFT172	Cone-shaped epiphysis	HP:0010579
26160	IFT172	Abnormality of pelvic girdle bone morphology	HP:0002644
26160	IFT172	Finger syndactyly	HP:0006101
26160	IFT172	Short neck	HP:0000470
26160	IFT172	Nephronophthisis	HP:0000090
26160	IFT172	Ophthalmoplegia	HP:0000602
26160	IFT172	Type II diabetes mellitus	HP:0005978
26160	IFT172	Atypical scarring of skin	HP:0000987
26160	IFT172	Skeletal dysplasia	HP:0002652
26160	IFT172	Ventricular septal defect	HP:0001629
26160	IFT172	Elevated hepatic transaminase	HP:0002910
26160	IFT172	Intellectual disability	HP:0001249
26160	IFT172	Short stature	HP:0004322
26160	IFT172	Nephrotic syndrome	HP:0000100
26160	IFT172	Photophobia	HP:0000613
26160	IFT172	Obesity	HP:0001513
26160	IFT172	Blindness	HP:0000618
26160	IFT172	Toe syndactyly	HP:0001770
26160	IFT172	Short foot	HP:0001773
26160	IFT172	Hearing impairment	HP:0000365
26160	IFT172	Hydrocephalus	HP:0000238
26160	IFT172	Abnormal retinal vascular morphology	HP:0008046
26160	IFT172	Delayed speech and language development	HP:0000750
26160	IFT172	Downslanted palpebral fissures	HP:0000494
26160	IFT172	Abnormality of the liver	HP:0001392
26160	IFT172	Nephropathy	HP:0000112
26160	IFT172	Low-set, posteriorly rotated ears	HP:0000368
26160	IFT172	Hepatic fibrosis	HP:0001395
26160	IFT172	Thoracic dysplasia	HP:0006644
26160	IFT172	Cholestasis	HP:0001396
26160	IFT172	Glaucoma	HP:0000501
26160	IFT172	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
26160	IFT172	Drusen	HP:0011510
26160	IFT172	Hepatic failure	HP:0001399
26160	IFT172	Neurological speech impairment	HP:0002167
26160	IFT172	Abnormality of the clavicle	HP:0000889
26160	IFT172	Progressive night blindness	HP:0007675
26160	IFT172	Medial flaring of the eyebrow	HP:0010747
26160	IFT172	Abnormality of the sternum	HP:0000766
26160	IFT172	Rod-cone dystrophy	HP:0000510
26160	IFT172	Lateral clavicle hook	HP:0000895
26160	IFT172	Nystagmus	HP:0000639
1585	CYP11B2	Autosomal recessive inheritance	HP:0000007
1585	CYP11B2	Headache	HP:0002315
1585	CYP11B2	Increased circulating renin level	HP:0000848
1585	CYP11B2	Caesarian section	HP:0011410
1585	CYP11B2	Hypokalemia	HP:0002900
1585	CYP11B2	Abnormal circulating renin	HP:0040084
1585	CYP11B2	Hyponatremia	HP:0002902
1585	CYP11B2	Dehydration	HP:0001944
1585	CYP11B2	Dexamethasone-suppressible primary hyperaldosteronism	HP:0011739
1585	CYP11B2	Adrenal hyperplasia	HP:0008221
1585	CYP11B2	Vomiting	HP:0002013
1585	CYP11B2	Decreased circulating aldosterone level	HP:0004319
1585	CYP11B2	Secretory adrenocortical adenoma	HP:0011746
1585	CYP11B2	Nausea	HP:0002018
1585	CYP11B2	Recurrent fever	HP:0001954
1585	CYP11B2	Failure to thrive	HP:0001508
1585	CYP11B2	Epistaxis	HP:0000421
1585	CYP11B2	Growth delay	HP:0001510
1585	CYP11B2	Polydipsia	HP:0001959
1585	CYP11B2	Neonatal onset	HP:0003623
1585	CYP11B2	Tinnitus	HP:0000360
1585	CYP11B2	Feeding difficulties in infancy	HP:0008872
1585	CYP11B2	Hyperkalemia	HP:0002153
1585	CYP11B2	Muscle weakness	HP:0001324
1585	CYP11B2	Hypertension	HP:0000822
1585	CYP11B2	Hypotension	HP:0002615
1585	CYP11B2	Intracranial hemorrhage	HP:0002170
1585	CYP11B2	Preeclampsia	HP:0100602
1585	CYP11B2	Orthostatic hypotension	HP:0001278
1585	CYP11B2	Renal salt wasting	HP:0000127
1586	CYP17A1	Primary gonadal insufficiency	HP:0008193
1586	CYP17A1	Gynecomastia	HP:0000771
1586	CYP17A1	Autosomal recessive inheritance	HP:0000007
1586	CYP17A1	Decreased fertility in males	HP:0012041
1586	CYP17A1	Hypoplasia of the uterus	HP:0000013
1586	CYP17A1	Generalized hyperpigmentation	HP:0007440
1586	CYP17A1	Primary amenorrhea	HP:0000786
1586	CYP17A1	Abnormal circulating aldosterone	HP:0040085
1586	CYP17A1	Hypoplasia of the vagina	HP:0008726
1586	CYP17A1	Decreased serum estradiol	HP:0008214
1586	CYP17A1	Decreased circulating renin level	HP:0003351
1586	CYP17A1	Female external genitalia in individual with 46,XY karyotype	HP:0008730
1586	CYP17A1	Cryptorchidism	HP:0000028
1586	CYP17A1	Adrenal hyperplasia	HP:0008221
1586	CYP17A1	Hypokalemic alkalosis	HP:0001949
1586	CYP17A1	Decreased testicular size	HP:0008734
1586	CYP17A1	Ambiguous genitalia, male	HP:0000033
1586	CYP17A1	Male pseudohermaphroditism	HP:0000037
1586	CYP17A1	Sparse axillary hair	HP:0002215
1586	CYP17A1	Elevated circulating follicle stimulating hormone level	HP:0008232
1586	CYP17A1	Abnormal EKG	HP:0003115
1586	CYP17A1	Osteoporosis	HP:0000939
1586	CYP17A1	Hypospadias	HP:0000047
1586	CYP17A1	Hypergonadotropic hypogonadism	HP:0000815
1586	CYP17A1	Sparse pubic hair	HP:0002225
1586	CYP17A1	Hypertension	HP:0000822
1586	CYP17A1	Micropenis	HP:0000054
1586	CYP17A1	Sparse body hair	HP:0002231
1586	CYP17A1	Delayed puberty	HP:0000823
1586	CYP17A1	Aortic root aneurysm	HP:0002616
1586	CYP17A1	Delayed skeletal maturation	HP:0002750
1586	CYP17A1	Ambiguous genitalia	HP:0000062
1586	CYP17A1	Elevated circulating luteinizing hormone level	HP:0011969
1586	CYP17A1	Congenital adrenal hyperplasia	HP:0008258
1586	CYP17A1	Adrenogenital syndrome	HP:0000840
1586	CYP17A1	Abnormal circulating corticosterone level	HP:0012112
1586	CYP17A1	Increased circulating ACTH level	HP:0003154
1586	CYP17A1	Hypokalemia	HP:0002900
1586	CYP17A1	Abnormal sex determination	HP:0012244
1586	CYP17A1	Hyperaldosteronism	HP:0000859
1586	CYP17A1	Hypervolemia	HP:0011105
1586	CYP17A1	Short stature	HP:0004322
1586	CYP17A1	Decreased circulating cortisol level	HP:0008163
1586	CYP17A1	Enlarged polycystic ovaries	HP:0008675
1586	CYP17A1	Decreased fertility in females	HP:0000868
1586	CYP17A1	Failure to thrive	HP:0001508
1586	CYP17A1	Adrenocorticotropic hormone excess	HP:0011749
1586	CYP17A1	Decreased serum testosterone level	HP:0040171
1586	CYP17A1	Absence of secondary sex characteristics	HP:0008187
1586	CYP17A1	Dysmenorrhea	HP:0100607
1588	CYP19A1	Macroorchidism, postpubertal	HP:0002050
1588	CYP19A1	Gynecomastia	HP:0000771
1588	CYP19A1	Hyperlipidemia	HP:0003077
1588	CYP19A1	Autosomal dominant inheritance	HP:0000006
1588	CYP19A1	Eunuchoid habitus	HP:0003782
1588	CYP19A1	Autosomal recessive inheritance	HP:0000007
1588	CYP19A1	Maternal virilization in pregnancy	HP:0008072
1588	CYP19A1	Ovarian cyst	HP:0000138
1588	CYP19A1	Primary amenorrhea	HP:0000786
1588	CYP19A1	Insulin resistance	HP:0000855
1588	CYP19A1	Female pseudohermaphroditism	HP:0010458
1588	CYP19A1	Type II diabetes mellitus	HP:0005978
1588	CYP19A1	Cryptorchidism	HP:0000028
1588	CYP19A1	Bone pain	HP:0002653
1588	CYP19A1	Female infertility	HP:0008222
1588	CYP19A1	Short stature	HP:0004322
1588	CYP19A1	Tall stature	HP:0000098
1588	CYP19A1	Enlarged polycystic ovaries	HP:0008675
1588	CYP19A1	Growth delay	HP:0001510
1588	CYP19A1	Delayed epiphyseal ossification	HP:0002663
1588	CYP19A1	Obesity	HP:0001513
1588	CYP19A1	Genu valgum	HP:0002857
1588	CYP19A1	Osteopenia	HP:0000938
1588	CYP19A1	Osteoporosis	HP:0000939
1588	CYP19A1	Hypergonadotropic hypogonadism	HP:0000815
1588	CYP19A1	Accelerated skeletal maturation	HP:0005616
1588	CYP19A1	Male infertility	HP:0003251
1588	CYP19A1	Hepatic steatosis	HP:0001397
1588	CYP19A1	Generalized hirsutism	HP:0002230
1588	CYP19A1	Acanthosis nigricans	HP:0000956
1588	CYP19A1	Ambiguous genitalia, female	HP:0000061
1588	CYP19A1	Delayed skeletal maturation	HP:0002750
9780	PIEZO1	Hepatomegaly	HP:0002240
9780	PIEZO1	Deep venous thrombosis	HP:0002625
9780	PIEZO1	Reticulocytosis	HP:0001923
9780	PIEZO1	Ascites	HP:0001541
9780	PIEZO1	Chylothorax	HP:0010310
9780	PIEZO1	Generalized edema	HP:0007430
9780	PIEZO1	Autosomal dominant inheritance	HP:0000006
9780	PIEZO1	Autosomal recessive inheritance	HP:0000007
9780	PIEZO1	Increased mean corpuscular hemoglobin concentration	HP:0025548
9780	PIEZO1	Increased red cell hemolysis by shear stress	HP:0008269
9780	PIEZO1	Splenomegaly	HP:0001744
9780	PIEZO1	Webbed neck	HP:0000465
9780	PIEZO1	Increased serum ferritin	HP:0003281
9780	PIEZO1	Hepatitis	HP:0012115
9780	PIEZO1	Genital edema	HP:0031188
9780	PIEZO1	Pallor	HP:0000980
9780	PIEZO1	Polyhydramnios	HP:0001561
9780	PIEZO1	Scoliosis	HP:0002650
9780	PIEZO1	Facial edema	HP:0000282
9780	PIEZO1	Micrognathia	HP:0000347
9780	PIEZO1	Epicanthus	HP:0000286
9780	PIEZO1	Atrial septal defect	HP:0001631
9780	PIEZO1	Exercise-induced hemolysis	HP:0005535
9780	PIEZO1	Intestinal lymphangiectasia	HP:0002593
9780	PIEZO1	Short stature	HP:0004322
9780	PIEZO1	Hydrocele testis	HP:0000034
9780	PIEZO1	Gastroesophageal reflux	HP:0002020
9780	PIEZO1	Prune belly	HP:0004392
9780	PIEZO1	Lymphedema	HP:0001004
9780	PIEZO1	Hearing impairment	HP:0000365
9780	PIEZO1	Global developmental delay	HP:0001263
9780	PIEZO1	Cellulitis	HP:0100658
9780	PIEZO1	Hypothyroidism	HP:0000821
9780	PIEZO1	Jaundice	HP:0000952
9780	PIEZO1	Cholelithiasis	HP:0001081
9780	PIEZO1	Hemoglobinuria	HP:0003641
9780	PIEZO1	Cupped ear	HP:0000378
9780	PIEZO1	Periorbital edema	HP:0100539
9780	PIEZO1	Varicose veins	HP:0002619
9780	PIEZO1	Nonimmune hydrops fetalis	HP:0001790
9780	PIEZO1	Pectus excavatum	HP:0000767
1589	CYP21A2	Gynecomastia	HP:0000771
1589	CYP21A2	Growth abnormality	HP:0001507
1589	CYP21A2	Hypertension	HP:0000822
1589	CYP21A2	Autosomal recessive inheritance	HP:0000007
1589	CYP21A2	Hypoglycemia	HP:0001943
1589	CYP21A2	Adrenogenital syndrome	HP:0000840
1589	CYP21A2	Fever	HP:0001945
1589	CYP21A2	Abnormality of the thorax	HP:0000765
1589	CYP21A2	Adrenal hyperplasia	HP:0008221
1589	CYP21A2	Hypospadias	HP:0000047
1589	CYP21A2	Renal salt wasting	HP:0000127
9782	MATR3	EMG abnormality	HP:0003457
9782	MATR3	Skeletal muscle atrophy	HP:0003202
9782	MATR3	Bulbar palsy	HP:0001283
9782	MATR3	Neurodegeneration	HP:0002180
9782	MATR3	Autosomal dominant inheritance	HP:0000006
9782	MATR3	Unsteady gait	HP:0002317
9782	MATR3	Ankle weakness	HP:0031374
9782	MATR3	Paralysis	HP:0003470
9782	MATR3	Aspiration	HP:0002835
9782	MATR3	Abnormality of the calf musculature	HP:0001430
9782	MATR3	Exercise-induced myalgia	HP:0003738
9782	MATR3	Distal muscle weakness	HP:0002460
9782	MATR3	Elevated serum creatine kinase	HP:0003236
9782	MATR3	Imperfect vocal cord adduction	HP:0005934
9782	MATR3	Dyspnea	HP:0002094
9782	MATR3	Bulbar signs	HP:0002483
9782	MATR3	Difficulty walking	HP:0002355
9782	MATR3	Bowing of the vocal cords	HP:0008756
9782	MATR3	Abnormality of musculature of pharynx	HP:0430015
9782	MATR3	Amyotrophic lateral sclerosis	HP:0007354
9782	MATR3	Respiratory insufficiency due to muscle weakness	HP:0002747
9782	MATR3	Abnormal lower motor neuron morphology	HP:0002366
9782	MATR3	Respiratory failure	HP:0002878
9782	MATR3	Muscle spasm	HP:0003394
9782	MATR3	Hyperreflexia	HP:0001347
9782	MATR3	Vocal cord paresis	HP:0001604
9782	MATR3	Emotional lability	HP:0000712
9782	MATR3	Hoarse voice	HP:0001609
9782	MATR3	Agitation	HP:0000713
9782	MATR3	Abnormality of the nasopharynx	HP:0001739
9782	MATR3	Nasal speech	HP:0001611
9782	MATR3	Depressivity	HP:0000716
9782	MATR3	Abnormal upper motor neuron morphology	HP:0002127
9782	MATR3	Laryngospasm	HP:0025425
9782	MATR3	Weak voice	HP:0001621
9782	MATR3	Dementia	HP:0000726
9782	MATR3	Xerostomia	HP:0000217
9782	MATR3	Fatigue	HP:0012378
9782	MATR3	Shoulder girdle muscle weakness	HP:0003547
9782	MATR3	Rimmed vacuoles	HP:0003805
9782	MATR3	Dysphagia	HP:0002015
9782	MATR3	Nausea and vomiting	HP:0002017
9782	MATR3	Anxiety	HP:0000739
9782	MATR3	Spasticity	HP:0001257
9782	MATR3	Dysarthria	HP:0001260
9782	MATR3	Distal upper limb amyotrophy	HP:0007149
9782	MATR3	Abnormality of the extraocular muscles	HP:0008049
9782	MATR3	Fatigable weakness of swallowing muscles	HP:0030195
9782	MATR3	Pain	HP:0012531
9782	MATR3	Variable expressivity	HP:0003828
9782	MATR3	Mildly elevated creatine kinase	HP:0008180
9782	MATR3	Fatigable weakness of respiratory muscles	HP:0030196
9782	MATR3	Distal sensory impairment	HP:0002936
9782	MATR3	Decreased nerve conduction velocity	HP:0000762
9782	MATR3	Generalized muscle weakness	HP:0003324
9782	MATR3	Adult onset	HP:0003581
1591	CYP24A1	Weight loss	HP:0001824
1591	CYP24A1	Intellectual disability	HP:0001249
1591	CYP24A1	Failure to thrive	HP:0001508
1591	CYP24A1	Hypercalciuria	HP:0002150
1591	CYP24A1	Autosomal dominant inheritance	HP:0000006
1591	CYP24A1	Lethargy	HP:0001254
1591	CYP24A1	Polyuria	HP:0000103
1591	CYP24A1	Autosomal recessive inheritance	HP:0000007
1591	CYP24A1	Pulmonic stenosis	HP:0001642
1591	CYP24A1	Generalized hypotonia	HP:0001290
1591	CYP24A1	Elfin facies	HP:0004428
1591	CYP24A1	Aortic valve stenosis	HP:0001650
1591	CYP24A1	Thick lower lip vermilion	HP:0000179
1591	CYP24A1	Nephrolithiasis	HP:0000787
1591	CYP24A1	Dehydration	HP:0001944
1591	CYP24A1	Nephrocalcinosis	HP:0000121
1591	CYP24A1	Infantile hypercalcemia	HP:0008250
1591	CYP24A1	Vomiting	HP:0002013
1591	CYP24A1	Abnormality of the eye	HP:0000478
9785	DHX38	Abnormal electroretinogram	HP:0000512
9785	DHX38	Hyperreflexia	HP:0001347
9785	DHX38	Cataract	HP:0000518
9785	DHX38	Hypogonadism	HP:0000135
9785	DHX38	Optic atrophy	HP:0000648
9785	DHX38	Hyperinsulinemia	HP:0000842
9785	DHX38	Anteverted nares	HP:0000463
9785	DHX38	Conductive hearing impairment	HP:0000405
9785	DHX38	Sensorineural hearing impairment	HP:0000407
9785	DHX38	Abnormality of retinal pigmentation	HP:0007703
9785	DHX38	Ophthalmoplegia	HP:0000602
9785	DHX38	Type II diabetes mellitus	HP:0005978
9785	DHX38	Atypical scarring of skin	HP:0000987
9785	DHX38	Macular coloboma	HP:0001116
9785	DHX38	Hypoplasia of penis	HP:0008736
9785	DHX38	Intellectual disability	HP:0001249
9785	DHX38	Abnormal testis morphology	HP:0000035
9785	DHX38	Photophobia	HP:0000613
9785	DHX38	Obesity	HP:0001513
9785	DHX38	Macular atrophy	HP:0007401
9785	DHX38	Blindness	HP:0000618
9785	DHX38	Abnormal retinal vascular morphology	HP:0008046
9785	DHX38	Wide nasal bridge	HP:0000431
9785	DHX38	Keratoconus	HP:0000563
9785	DHX38	Glaucoma	HP:0000501
9785	DHX38	Progressive night blindness	HP:0007675
9785	DHX38	Rod-cone dystrophy	HP:0000510
9785	DHX38	Nystagmus	HP:0000639
1593	CYP27A1	Cataract	HP:0000518
1593	CYP27A1	Autosomal recessive inheritance	HP:0000007
1593	CYP27A1	Cerebral atrophy	HP:0002059
1593	CYP27A1	Angina pectoris	HP:0001681
1593	CYP27A1	Nephrolithiasis	HP:0000787
1593	CYP27A1	Abnormality of extrapyramidal motor function	HP:0002071
1593	CYP27A1	EMG: axonal abnormality	HP:0003482
1593	CYP27A1	Optic disc pallor	HP:0000543
1593	CYP27A1	Abnormal circulating cholesterol concentration	HP:0003107
1593	CYP27A1	Osteoporosis	HP:0000939
1593	CYP27A1	Muscle weakness	HP:0001324
1593	CYP27A1	Respiratory insufficiency	HP:0002093
1593	CYP27A1	EEG abnormality	HP:0002353
1593	CYP27A1	Hypercholesterolemia	HP:0003124
1593	CYP27A1	Dystonia	HP:0001332
1593	CYP27A1	Myoclonus	HP:0001336
1593	CYP27A1	Cholelithiasis	HP:0001081
1593	CYP27A1	Tremor	HP:0001337
1593	CYP27A1	Tuberous xanthoma	HP:0031290
1593	CYP27A1	Atherosclerosis	HP:0002621
1593	CYP27A1	Abnormality of central somatosensory evoked potentials	HP:0100291
1593	CYP27A1	Hyperreflexia	HP:0001347
1593	CYP27A1	Developmental regression	HP:0002376
1593	CYP27A1	Depressivity	HP:0000716
1593	CYP27A1	Cerebral calcification	HP:0002514
1593	CYP27A1	Dementia	HP:0000726
1593	CYP27A1	Abnormality of the periventricular white matter	HP:0002518
1593	CYP27A1	Abnormal pyramidal sign	HP:0007256
1593	CYP27A1	Xanthelasma	HP:0001114
1593	CYP27A1	EEG with generalized slow activity	HP:0010845
1593	CYP27A1	Joint dislocation	HP:0001373
1593	CYP27A1	Diarrhea	HP:0002014
1593	CYP27A1	Abnormality of the dentate nucleus	HP:0100321
1593	CYP27A1	Intellectual disability	HP:0001249
1593	CYP27A1	Hallucinations	HP:0000738
1593	CYP27A1	Seizures	HP:0001250
1593	CYP27A1	Ataxia	HP:0001251
1593	CYP27A1	Peripheral neuropathy	HP:0009830
1593	CYP27A1	Malabsorption	HP:0002024
1593	CYP27A1	Spasticity	HP:0001257
1593	CYP27A1	Delusions	HP:0000746
1593	CYP27A1	Joint stiffness	HP:0001387
1593	CYP27A1	Pseudobulbar paralysis	HP:0007024
1593	CYP27A1	Cholestasis	HP:0001396
1593	CYP27A1	Neurological speech impairment	HP:0002167
1593	CYP27A1	Cerebellar atrophy	HP:0001272
1593	CYP27A1	Abnormality of vision	HP:0000504
1593	CYP27A1	Tendon xanthomatosis	HP:0010874
1593	CYP27A1	Myocardial infarction	HP:0001658
9786	KIAA0586	Aplastic clavicle	HP:0006660
9786	KIAA0586	Short ribs	HP:0000773
9786	KIAA0586	Narrow chest	HP:0000774
9786	KIAA0586	Autosomal recessive inheritance	HP:0000007
9786	KIAA0586	Congenital diaphragmatic hernia	HP:0000776
9786	KIAA0586	Gait disturbance	HP:0001288
9786	KIAA0586	Generalized hypotonia	HP:0001290
9786	KIAA0586	Twelfth rib hypoplasia	HP:0006668
9786	KIAA0586	Anencephaly	HP:0002323
9786	KIAA0586	Long face	HP:0000276
9786	KIAA0586	Small cervical vertebral bodies	HP:0004629
9786	KIAA0586	Polyhydramnios	HP:0001561
9786	KIAA0586	Dandy-Walker malformation	HP:0001305
9786	KIAA0586	Abnormality of the 5th metacarpal	HP:0010013
9786	KIAA0586	Epicanthus	HP:0000286
9786	KIAA0586	Myopia	HP:0000545
9786	KIAA0586	Renal cortical cysts	HP:0000803
9786	KIAA0586	Encephalocele	HP:0002084
9786	KIAA0586	Foot polydactyly	HP:0001829
9786	KIAA0586	Occipital encephalocele	HP:0002085
9786	KIAA0586	Cerebellar vermis hypoplasia	HP:0001320
9786	KIAA0586	Subretinal deposits	HP:0031528
9786	KIAA0586	Pulmonary hypoplasia	HP:0002089
9786	KIAA0586	Cerebellar hypoplasia	HP:0001321
9786	KIAA0586	Retinal dystrophy	HP:0000556
9786	KIAA0586	Dilation of lateral ventricles	HP:0006956
9786	KIAA0586	Hypospadias	HP:0000047
9786	KIAA0586	Absent septum pellucidum	HP:0001331
9786	KIAA0586	Recurrent aspiration pneumonia	HP:0002100
9786	KIAA0586	Micropenis	HP:0000054
9786	KIAA0586	Bell-shaped thorax	HP:0001591
9786	KIAA0586	Apnea	HP:0002104
9786	KIAA0586	Tremor	HP:0001337
9786	KIAA0586	Episodic tachypnea	HP:0002876
9786	KIAA0586	Hypertelorism	HP:0000316
9786	KIAA0586	Visual loss	HP:0000572
9786	KIAA0586	Absent speech	HP:0001344
9786	KIAA0586	Biparietal narrowing	HP:0004422
9786	KIAA0586	Rhizomelic leg shortening	HP:0012106
9786	KIAA0586	Dysplastic corpus callosum	HP:0006989
9786	KIAA0586	Coloboma	HP:0000589
9786	KIAA0586	Polymicrogyria	HP:0002126
9786	KIAA0586	Proximal femoral metaphyseal irregularity	HP:0003411
9786	KIAA0586	Cone-shaped epiphysis	HP:0010579
9786	KIAA0586	Renal insufficiency	HP:0000083
9786	KIAA0586	Abnormality of the basal ganglia	HP:0002134
9786	KIAA0586	Scoliosis	HP:0002650
9786	KIAA0586	Open operculum	HP:0100954
9786	KIAA0586	Micrognathia	HP:0000347
9786	KIAA0586	Early ossification of capital femoral epiphyses	HP:0008797
9786	KIAA0586	Elevated hepatic transaminase	HP:0002910
9786	KIAA0586	Atrial septal defect	HP:0001631
9786	KIAA0586	Abnormality of the hypothalamus-pituitary axis	HP:0000864
9786	KIAA0586	Colpocephaly	HP:0030048
9786	KIAA0586	Abnormality of the acetabulum	HP:0003170
9786	KIAA0586	Iris coloboma	HP:0000612
9786	KIAA0586	Redundant neck skin	HP:0005989
9786	KIAA0586	Renal dysplasia	HP:0000110
9786	KIAA0586	Hyperechogenic kidneys	HP:0004719
9786	KIAA0586	Low-set, posteriorly rotated ears	HP:0000368
9786	KIAA0586	Low-set ears	HP:0000369
9786	KIAA0586	Molar tooth sign on MRI	HP:0002419
9786	KIAA0586	Cerebellar dysplasia	HP:0007033
9786	KIAA0586	Abnormality of the pinna	HP:0000377
9786	KIAA0586	Long clavicles	HP:0000890
9786	KIAA0586	Nystagmus	HP:0000639
9786	KIAA0586	Rhizomelic arm shortening	HP:0004991
9786	KIAA0586	Chronic lung disease	HP:0006528
9786	KIAA0586	Meningocele	HP:0002435
9786	KIAA0586	Brachydactyly	HP:0001156
9786	KIAA0586	Hand polydactyly	HP:0001161
9786	KIAA0586	Thoracic hypoplasia	HP:0005257
9786	KIAA0586	Overfolded helix	HP:0000396
9786	KIAA0586	Oculomotor apraxia	HP:0000657
9786	KIAA0586	Dysgenesis of the cerebellar vermis	HP:0002195
9786	KIAA0586	Recurrent respiratory infections	HP:0002205
9786	KIAA0586	Elongated superior cerebellar peduncle	HP:0011933
9786	KIAA0586	Depressed nasal bridge	HP:0005280
9786	KIAA0586	Situs inversus totalis	HP:0001696
9786	KIAA0586	Postaxial polydactyly	HP:0100259
9786	KIAA0586	Preaxial polydactyly	HP:0100258
9786	KIAA0586	Micromelia	HP:0002983
9786	KIAA0586	Feeding difficulties in infancy	HP:0008872
9786	KIAA0586	Prominent nasal bridge	HP:0000426
9786	KIAA0586	Dilated third ventricle	HP:0007082
9786	KIAA0586	Cleft palate	HP:0000175
9786	KIAA0586	Feeding difficulties	HP:0011968
9786	KIAA0586	Duane anomaly	HP:0009921
9786	KIAA0586	Polydactyly	HP:0010442
9786	KIAA0586	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
9786	KIAA0586	Oral cleft	HP:0000202
9786	KIAA0586	Aganglionic megacolon	HP:0002251
9786	KIAA0586	Anteverted nares	HP:0000463
9786	KIAA0586	Wide intermamillary distance	HP:0006610
9786	KIAA0586	Increased intracranial pressure	HP:0002516
9786	KIAA0586	Short neck	HP:0000470
9786	KIAA0586	Frontal bossing	HP:0002007
9786	KIAA0586	Retinal coloboma	HP:0000480
9786	KIAA0586	Intellectual disability	HP:0001249
9786	KIAA0586	Seizures	HP:0001250
9786	KIAA0586	Ataxia	HP:0001251
9786	KIAA0586	Muscular hypotonia	HP:0001252
9786	KIAA0586	Failure to thrive	HP:0001508
9786	KIAA0586	Gastroesophageal reflux	HP:0002020
9786	KIAA0586	Tachypnea	HP:0002789
9786	KIAA0586	Strabismus	HP:0000486
9786	KIAA0586	Enlarged cisterna magna	HP:0002280
9786	KIAA0586	Hydrocephalus	HP:0000238
9786	KIAA0586	Global developmental delay	HP:0001263
9786	KIAA0586	Abnormality of eye movement	HP:0000496
9786	KIAA0586	Abnormal form of the vertebral bodies	HP:0003312
9786	KIAA0586	Hyporeflexia	HP:0001265
9786	KIAA0586	Highly arched eyebrow	HP:0002553
9786	KIAA0586	Abnormal corpus callosum morphology	HP:0001273
9786	KIAA0586	Abnormality of the optic disc	HP:0012795
9786	KIAA0586	Ptosis	HP:0000508
9786	KIAA0586	Hydrops fetalis	HP:0001789
9786	KIAA0586	Cervical spinal canal stenosis	HP:0008445
9786	KIAA0586	Supernumerary nipple	HP:0002558
1594	CYP27B1	Sparse bone trabeculae	HP:0002752
1594	CYP27B1	Thin bony cortex	HP:0002753
1594	CYP27B1	Protuberant abdomen	HP:0001538
1594	CYP27B1	Bulging epiphyses	HP:0003013
1594	CYP27B1	Recurrent fractures	HP:0002757
1594	CYP27B1	Fibular bowing	HP:0010502
1594	CYP27B1	Autosomal recessive inheritance	HP:0000007
1594	CYP27B1	Generalized hypotonia	HP:0001290
1594	CYP27B1	Enlargement of the wrists	HP:0003020
1594	CYP27B1	Widely patent fontanelles and sutures	HP:0004492
1594	CYP27B1	Metaphyseal irregularity	HP:0003025
1594	CYP27B1	Elevated alkaline phosphatase	HP:0003155
1594	CYP27B1	Enlargement of the ankles	HP:0003029
1594	CYP27B1	Hypocalcemic seizures	HP:0002199
1594	CYP27B1	Frontal bossing	HP:0002007
1594	CYP27B1	Enlargement of the costochondral junction	HP:0000920
1594	CYP27B1	Hypoplasia of dental enamel	HP:0006297
1594	CYP27B1	Flat occiput	HP:0005469
1594	CYP27B1	Bone pain	HP:0002653
1594	CYP27B1	Generalized aminoaciduria	HP:0002909
1594	CYP27B1	Elevated circulating parathyroid hormone level	HP:0003165
1594	CYP27B1	Irritability	HP:0000737
1594	CYP27B1	Subperiosteal bone resorption	HP:0003106
1594	CYP27B1	Bowing of the legs	HP:0002979
1594	CYP27B1	Secondary hyperparathyroidism	HP:0000867
1594	CYP27B1	Femoral bowing	HP:0002980
1594	CYP27B1	Hypophosphatemia	HP:0002148
1594	CYP27B1	Failure to thrive	HP:0001508
1594	CYP27B1	Muscular hypotonia	HP:0001252
1594	CYP27B1	Tibial bowing	HP:0002982
1594	CYP27B1	Growth delay	HP:0001510
1594	CYP27B1	Delayed epiphyseal ossification	HP:0002663
1594	CYP27B1	Delayed eruption of teeth	HP:0000684
1594	CYP27B1	Difficulty standing	HP:0003698
1594	CYP27B1	Difficulty walking	HP:0002355
1594	CYP27B1	Motor delay	HP:0001270
1594	CYP27B1	Deformed rib cage	HP:0000886
1594	CYP27B1	Rickets	HP:0002748
1594	CYP27B1	Bulging of the costochondral junction	HP:0000893
1594	CYP27B1	Abdominal wall muscle weakness	HP:0009023
9790	BMS1	Prolonged bleeding time	HP:0003010
9790	BMS1	Calvarial skull defect	HP:0001362
9790	BMS1	Facial palsy	HP:0010628
9790	BMS1	Autosomal dominant inheritance	HP:0000006
9790	BMS1	Congenital localized absence of skin	HP:0007383
9790	BMS1	Aplasia cutis congenita over the scalp vertex	HP:0004471
9790	BMS1	Autosomal recessive inheritance	HP:0000007
9790	BMS1	Skin ulcer	HP:0200042
9790	BMS1	Abnormality of bone mineral density	HP:0004348
9790	BMS1	Spinal dysraphism	HP:0010301
9791	PTDSS1	Macrocephaly	HP:0000256
9791	PTDSS1	Aplasia/Hypoplasia of the skin	HP:0008065
9791	PTDSS1	Relative macrocephaly	HP:0004482
9791	PTDSS1	Facial palsy	HP:0010628
9791	PTDSS1	Aplastic clavicle	HP:0006660
9791	PTDSS1	Brachydactyly	HP:0001156
9791	PTDSS1	Autosomal dominant inheritance	HP:0000006
9791	PTDSS1	Sparse hair	HP:0008070
9791	PTDSS1	Syndactyly	HP:0001159
9791	PTDSS1	Hypogonadism	HP:0000135
9791	PTDSS1	Proximal symphalangism of hands	HP:0006152
9791	PTDSS1	Anteriorly placed anus	HP:0001545
9791	PTDSS1	Generalized hypotonia	HP:0001290
9791	PTDSS1	Abnormality of the metacarpal bones	HP:0001163
9791	PTDSS1	Hypoplastic fingernail	HP:0001804
9791	PTDSS1	Delayed cranial suture closure	HP:0000270
9791	PTDSS1	Macrotia	HP:0000400
9791	PTDSS1	High, narrow palate	HP:0002705
9791	PTDSS1	Prominent scalp veins	HP:0001043
9791	PTDSS1	Broad clavicles	HP:0000916
9791	PTDSS1	Hyperconvex fingernails	HP:0001812
9791	PTDSS1	Sensorineural hearing impairment	HP:0000407
9791	PTDSS1	Inguinal hernia	HP:0000023
9791	PTDSS1	Wide mouth	HP:0000154
9791	PTDSS1	Diaphyseal thickening	HP:0005019
9791	PTDSS1	Cryptorchidism	HP:0000028
9791	PTDSS1	Abnormal cortical bone morphology	HP:0003103
9791	PTDSS1	Sporadic	HP:0003745
9791	PTDSS1	Hyperextensibility of the finger joints	HP:0001187
9791	PTDSS1	Abnormality of the dentition	HP:0000164
9791	PTDSS1	Intellectual disability, moderate	HP:0002342
9791	PTDSS1	Epispadias	HP:0000039
9791	PTDSS1	Chordee	HP:0000041
9791	PTDSS1	External genital hypoplasia	HP:0003241
9791	PTDSS1	Abnormality of dental enamel	HP:0000682
9791	PTDSS1	Elbow flexion contracture	HP:0002987
9791	PTDSS1	Microglossia	HP:0000171
9791	PTDSS1	Symphalangism affecting the phalanges of the hand	HP:0009773
9791	PTDSS1	Redundant skin	HP:0001582
9791	PTDSS1	Hypospadias	HP:0000047
9791	PTDSS1	Mandibular prognathia	HP:0000303
9791	PTDSS1	Specific learning disability	HP:0001328
9791	PTDSS1	Submucous cleft hard palate	HP:0000176
9791	PTDSS1	Abnormality of the metaphysis	HP:0000944
9791	PTDSS1	Absent septum pellucidum	HP:0001331
9791	PTDSS1	Severe short stature	HP:0003510
9791	PTDSS1	Short palm	HP:0004279
9791	PTDSS1	Thick vermilion border	HP:0012471
9791	PTDSS1	Hypertelorism	HP:0000316
9791	PTDSS1	Joint hyperflexibility	HP:0005692
9791	PTDSS1	Femoral hernia	HP:0100541
9791	PTDSS1	Delayed skeletal maturation	HP:0002750
9791	PTDSS1	Bifid uvula	HP:0000193
9791	PTDSS1	Thin skin	HP:0000963
9791	PTDSS1	Choanal stenosis	HP:0000452
9791	PTDSS1	Choanal atresia	HP:0000453
9791	PTDSS1	Cutis marmorata	HP:0000965
9791	PTDSS1	Flared metaphysis	HP:0003015
9791	PTDSS1	Prematurely aged appearance	HP:0007495
9791	PTDSS1	Cutis laxa	HP:0000973
9791	PTDSS1	Broad forehead	HP:0000337
9791	PTDSS1	Prominent forehead	HP:0011220
9791	PTDSS1	Finger syndactyly	HP:0006101
9791	PTDSS1	Frontal bossing	HP:0002007
9791	PTDSS1	Facial hyperostosis	HP:0005465
9791	PTDSS1	Scoliosis	HP:0002650
9791	PTDSS1	Micrognathia	HP:0000347
9791	PTDSS1	Intellectual disability	HP:0001249
9791	PTDSS1	Humeroradial synostosis	HP:0003041
9791	PTDSS1	Short stature	HP:0004322
9791	PTDSS1	Muscular hypotonia	HP:0001252
9791	PTDSS1	Failure to thrive	HP:0001508
9791	PTDSS1	Progressive sclerosis of skull base	HP:0005477
9791	PTDSS1	Abnormal nasolacrimal system morphology	HP:0000614
9791	PTDSS1	Intrauterine growth retardation	HP:0001511
9791	PTDSS1	Knee flexion contracture	HP:0006380
9791	PTDSS1	Hydrocephalus	HP:0000238
9791	PTDSS1	Large fontanelles	HP:0000239
9791	PTDSS1	Global developmental delay	HP:0001263
9791	PTDSS1	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0009843
9791	PTDSS1	Broad ribs	HP:0000885
9791	PTDSS1	Kyphosis	HP:0002808
9791	PTDSS1	Agenesis of corpus callosum	HP:0001274
9791	PTDSS1	Osteopetrosis	HP:0011002
9791	PTDSS1	Microcephaly	HP:0000252
9791	PTDSS1	Thickened calvaria	HP:0002684
9791	PTDSS1	Lacrimal duct stenosis	HP:0007678
9791	PTDSS1	Elbow ankylosis	HP:0003070
1600	DAB1	Ataxia	HP:0001251
1600	DAB1	Abnormal conjugate eye movement	HP:0000549
1600	DAB1	Autosomal dominant inheritance	HP:0000006
1600	DAB1	Limb dysmetria	HP:0002406
1600	DAB1	Cerebellar vermis atrophy	HP:0006855
1600	DAB1	Dysarthria	HP:0001260
1600	DAB1	Unsteady gait	HP:0002317
1600	DAB1	Diffuse cerebellar atrophy	HP:0100275
1600	DAB1	Sensory impairment	HP:0003474
1600	DAB1	Frequent falls	HP:0002359
1600	DAB1	Sensorineural hearing impairment	HP:0000407
1600	DAB1	Cerebellar atrophy	HP:0001272
1600	DAB1	Scanning speech	HP:0002168
1600	DAB1	Myoclonus	HP:0001336
1600	DAB1	Tremor	HP:0001337
1600	DAB1	Horizontal nystagmus	HP:0000666
1600	DAB1	Dysdiadochokinesis	HP:0002075
1600	DAB1	Cogwheel rigidity	HP:0002396
1600	DAB1	Slow progression	HP:0003677
1600	DAB1	Truncal ataxia	HP:0002078
1600	DAB1	Nystagmus	HP:0000639
1600	DAB1	Dysphagia	HP:0002015
1600	DAB1	Falls	HP:0002527
1604	CD55	Hepatomegaly	HP:0002240
1604	CD55	Hypoalbuminemia	HP:0003073
1604	CD55	Clubbing	HP:0001217
1604	CD55	Abnormal intestine morphology	HP:0002242
1604	CD55	Iron deficiency anemia	HP:0001891
1604	CD55	Hepatic vein thrombosis	HP:0030243
1604	CD55	Hypoproteinemia	HP:0003075
1604	CD55	Ascites	HP:0001541
1604	CD55	Thrombocytosis	HP:0001894
1604	CD55	Growth delay	HP:0001510
1604	CD55	Generalized edema	HP:0007430
1604	CD55	Autosomal recessive inheritance	HP:0000007
1604	CD55	Malabsorption	HP:0002024
1604	CD55	Abdominal pain	HP:0002027
1604	CD55	Budd-Chiari syndrome	HP:0002639
1604	CD55	Pulmonary embolism	HP:0002204
1604	CD55	Vomiting	HP:0002013
1604	CD55	Diarrhea	HP:0002014
1604	CD55	Intestinal obstruction	HP:0005214
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	Agyria	HP:0031882
1605	DAG1	Metatarsus valgus	HP:0010508
1605	DAG1	Anophthalmia	HP:0000528
1605	DAG1	Abnormal circulating creatine kinase concentration	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 kinase	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	Absent septum pellucidum	HP:0001331
1605	DAG1	Chorioretinal dysplasia	HP:0007731
1605	DAG1	Difficulty walking	HP:0002355
1605	DAG1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
1605	DAG1	Microphthalmia	HP:0000568
1605	DAG1	Macrogyria	HP:0007227
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	Hypoglycosylation of alpha-dystroglycan	HP:0030046
1605	DAG1	Intellectual disability	HP:0001249
1605	DAG1	Seizures	HP:0001250
1605	DAG1	Microcornea	HP:0000482
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	Low-set ears	HP:0000369
1605	DAG1	Hyporeflexia	HP:0001265
1605	DAG1	Variable expressivity	HP:0003828
1605	DAG1	Glaucoma	HP:0000501
1605	DAG1	Poor head control	HP:0002421
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
1610	DAO	Nausea and vomiting	HP:0002017
1610	DAO	Skeletal muscle atrophy	HP:0003202
1610	DAO	Muscle spasm	HP:0003394
1610	DAO	Anxiety	HP:0000739
1610	DAO	Neurodegeneration	HP:0002180
1610	DAO	Emotional lability	HP:0000712
1610	DAO	Spasticity	HP:0001257
1610	DAO	Agitation	HP:0000713
1610	DAO	Depressivity	HP:0000716
1610	DAO	Paralysis	HP:0003470
1610	DAO	Dyspnea	HP:0002094
1610	DAO	Laryngospasm	HP:0025425
1610	DAO	Fatigable weakness of swallowing muscles	HP:0030195
1610	DAO	Pain	HP:0012531
1610	DAO	Fatigable weakness of respiratory muscles	HP:0030196
1610	DAO	Xerostomia	HP:0000217
1610	DAO	Amyotrophic lateral sclerosis	HP:0007354
1610	DAO	Fatigue	HP:0012378
1610	DAO	Generalized muscle weakness	HP:0003324
1610	DAO	Respiratory failure	HP:0002878
26191	PTPN22	Cataract	HP:0000518
26191	PTPN22	Meningitis	HP:0001287
26191	PTPN22	Proptosis	HP:0000520
26191	PTPN22	Headache	HP:0002315
26191	PTPN22	Arthralgia	HP:0002829
26191	PTPN22	Vertigo	HP:0002321
26191	PTPN22	Vitiligo	HP:0001045
26191	PTPN22	Abnormal eyebrow morphology	HP:0000534
26191	PTPN22	Hematuria	HP:0000790
26191	PTPN22	Prostatitis	HP:0000024
26191	PTPN22	Hypopigmented skin patches	HP:0001053
26191	PTPN22	Retinal detachment	HP:0000541
26191	PTPN22	Weight loss	HP:0001824
26191	PTPN22	Restrictive ventilatory defect	HP:0002091
26191	PTPN22	Muscle weakness	HP:0001324
26191	PTPN22	Respiratory insufficiency	HP:0002093
26191	PTPN22	Juvenile rheumatoid arthritis	HP:0005681
26191	PTPN22	Hypertension	HP:0000822
26191	PTPN22	Pleuritis	HP:0002102
26191	PTPN22	Abnormality of the pleura	HP:0002103
26191	PTPN22	Hemoptysis	HP:0002105
26191	PTPN22	Visual loss	HP:0000572
26191	PTPN22	Alopecia	HP:0001596
26191	PTPN22	Pulmonary infiltrates	HP:0002113
26191	PTPN22	Arterial thrombosis	HP:0004420
26191	PTPN22	Iridocyclitis	HP:0001094
26191	PTPN22	Ureteral stenosis	HP:0000071
26191	PTPN22	Venous thrombosis	HP:0004936
26191	PTPN22	Vasculitis	HP:0002633
26191	PTPN22	Paresthesia	HP:0003401
26191	PTPN22	Cerebral ischemia	HP:0002637
26191	PTPN22	Abnormal thrombocyte morphology	HP:0001872
26191	PTPN22	Renal insufficiency	HP:0000083
26191	PTPN22	Ophthalmoparesis	HP:0000597
26191	PTPN22	Aortic dissection	HP:0002647
26191	PTPN22	Arthritis	HP:0001369
26191	PTPN22	Fatigue	HP:0012378
26191	PTPN22	Joint dislocation	HP:0001373
26191	PTPN22	Proteinuria	HP:0000093
26191	PTPN22	Intestinal obstruction	HP:0005214
26191	PTPN22	Limitation of joint mobility	HP:0001376
26191	PTPN22	Impaired mastication	HP:0005216
26191	PTPN22	Abnormality of the hypothalamus-pituitary axis	HP:0000864
26191	PTPN22	Papule	HP:0200034
26191	PTPN22	Visual field defect	HP:0001123
26191	PTPN22	Skin ulcer	HP:0200042
26191	PTPN22	Diabetes insipidus	HP:0000873
26191	PTPN22	Joint swelling	HP:0001386
26191	PTPN22	Joint stiffness	HP:0001387
26191	PTPN22	Sudden cardiac death	HP:0001645
26191	PTPN22	Chronic obstructive pulmonary disease	HP:0006510
26191	PTPN22	Mediastinal lymphadenopathy	HP:0100721
26191	PTPN22	Hepatic failure	HP:0001399
26191	PTPN22	Gastrointestinal infarctions	HP:0005244
26191	PTPN22	Hydronephrosis	HP:0000126
26191	PTPN22	Nystagmus	HP:0000639
26191	PTPN22	Polyarticular arthritis	HP:0005764
26191	PTPN22	Chronic otitis media	HP:0000389
26191	PTPN22	Recurrent intrapulmonary hemorrhage	HP:0006535
26191	PTPN22	Optic atrophy	HP:0000648
26191	PTPN22	Apraxia	HP:0002186
26191	PTPN22	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	HP:0011658
26191	PTPN22	Diplopia	HP:0000651
26191	PTPN22	Granulomatosis	HP:0002955
26191	PTPN22	Chest pain	HP:0100749
26191	PTPN22	Autoimmunity	HP:0002960
26191	PTPN22	Angina pectoris	HP:0001681
26191	PTPN22	Conductive hearing impairment	HP:0000405
26191	PTPN22	Sensorineural hearing impairment	HP:0000407
26191	PTPN22	Gangrene	HP:0100758
26191	PTPN22	Fever	HP:0001945
26191	PTPN22	Arrhythmia	HP:0011675
26191	PTPN22	Recurrent respiratory infections	HP:0002205
26191	PTPN22	Pulmonary fibrosis	HP:0002206
26191	PTPN22	Sparse scalp hair	HP:0002209
26191	PTPN22	Abnormal oral cavity morphology	HP:0000163
26191	PTPN22	Antinuclear antibody positivity	HP:0003493
26191	PTPN22	Pericarditis	HP:0001701
26191	PTPN22	Epistaxis	HP:0000421
26191	PTPN22	Premature graying of hair	HP:0002216
26191	PTPN22	Cranial nerve paralysis	HP:0006824
26191	PTPN22	Recurrent pharyngitis	HP:0100776
26191	PTPN22	Dental malocclusion	HP:0000689
26191	PTPN22	Inflammatory abnormality of the eye	HP:0100533
26191	PTPN22	Periorbital edema	HP:0100539
26191	PTPN22	Cognitive impairment	HP:0100543
26191	PTPN22	Cough	HP:0012735
26191	PTPN22	Gastrointestinal hemorrhage	HP:0002239
26191	PTPN22	Pancreatitis	HP:0001733
26191	PTPN22	Depressivity	HP:0000716
26191	PTPN22	Glossitis	HP:0000206
26191	PTPN22	Hyperhidrosis	HP:0000975
26191	PTPN22	Purpura	HP:0000979
26191	PTPN22	Glomerulopathy	HP:0100820
26191	PTPN22	Elevated C-reactive protein level	HP:0011227
26191	PTPN22	Skin rash	HP:0000988
26191	PTPN22	Amaurosis fugax	HP:0100576
26191	PTPN22	Nausea and vomiting	HP:0002017
26191	PTPN22	Short stature	HP:0004322
26191	PTPN22	Seizures	HP:0001250
26191	PTPN22	Ataxia	HP:0001251
26191	PTPN22	Retinopathy	HP:0000488
26191	PTPN22	Abdominal pain	HP:0002027
26191	PTPN22	Elevated erythrocyte sedimentation rate	HP:0003565
26191	PTPN22	Poliosis	HP:0002290
26191	PTPN22	Abnormal eyelash morphology	HP:0000499
26191	PTPN22	Glaucoma	HP:0000501
26191	PTPN22	Sinusitis	HP:0000246
26191	PTPN22	Anorexia	HP:0002039
26191	PTPN22	Abdominal aortic aneurysm	HP:0005112
26191	PTPN22	Visual impairment	HP:0000505
26191	PTPN22	Sensory neuropathy	HP:0000763
26191	PTPN22	Ptosis	HP:0000508
26191	PTPN22	Hemiplegia	HP:0002301
26191	PTPN22	Myalgia	HP:0003326
1615	DARS	Hyperreflexia	HP:0001347
1615	DARS	CNS hypomyelination	HP:0003429
1615	DARS	Autosomal recessive inheritance	HP:0000007
1615	DARS	Muscular hypotonia of the trunk	HP:0008936
1615	DARS	Intellectual disability, mild	HP:0001256
1615	DARS	Infantile onset	HP:0003593
1615	DARS	Spasticity	HP:0001257
1615	DARS	Leukoencephalopathy	HP:0002352
1615	DARS	Motor delay	HP:0001270
1615	DARS	Progressive	HP:0003676
1615	DARS	Hypoplasia of the corpus callosum	HP:0002079
1615	DARS	Babinski sign	HP:0003487
1615	DARS	Nystagmus	HP:0000639
1616	DAXX	Hepatomegaly	HP:0002240
1616	DAXX	Lack of bowel sounds	HP:0030145
1616	DAXX	Cardiogenic shock	HP:0030149
1616	DAXX	Hematemesis	HP:0002248
1616	DAXX	Increased serum serotonin	HP:0003144
1616	DAXX	Melena	HP:0002249
1616	DAXX	Episodic abdominal pain	HP:0002574
1616	DAXX	Abnormal pulmonary valve cusp morphology	HP:0031566
1616	DAXX	Intermittent diarrhea	HP:0002254
1616	DAXX	Increased circulating ACTH level	HP:0003154
1616	DAXX	Bronchospasm	HP:0025428
1616	DAXX	Facial telangiectasia	HP:0007380
1616	DAXX	Bowel urgency	HP:0012701
1616	DAXX	Elevated hepatic transaminase	HP:0002910
1616	DAXX	Weight loss	HP:0001824
1616	DAXX	Protracted diarrhea	HP:0004385
1616	DAXX	Nausea and vomiting	HP:0002017
1616	DAXX	Iron deficiency anemia	HP:0001891
1616	DAXX	Chronic noninfectious lymphadenopathy	HP:0002730
1616	DAXX	Palpitations	HP:0001962
1616	DAXX	Paraganglioma	HP:0002668
1616	DAXX	Poor appetite	HP:0004396
1616	DAXX	Right ventricular failure	HP:0001708
1616	DAXX	Dermatological manifestations of systemic disorders	HP:0001005
1616	DAXX	Atypical pulmonary carcinoid tumor	HP:0030446
1616	DAXX	Hypotension	HP:0002615
1616	DAXX	Hepatic failure	HP:0001399
1616	DAXX	Anorexia	HP:0002039
1616	DAXX	Tricuspid regurgitation	HP:0005180
1616	DAXX	Zollinger-Ellison syndrome	HP:0002044
1617	DAZ1	Male infertility	HP:0003251
1617	DAZ1	Non-obstructive azoospermia	HP:0011961
1617	DAZ1	Y-linked inheritance	HP:0001450
1617	DAZ1	Azoospermia	HP:0000027
1617	DAZ1	Cryptorchidism	HP:0000028
1617	DAZ1	Oligospermia	HP:0000798
1617	DAZ1	Decreased testicular size	HP:0008734
83538	TTC25	Situs inversus totalis	HP:0001696
83538	TTC25	Chronic rhinitis	HP:0002257
83538	TTC25	Chronic sinusitis	HP:0011109
83538	TTC25	Autosomal recessive inheritance	HP:0000007
83538	TTC25	Nasal polyposis	HP:0100582
83538	TTC25	Congenital onset	HP:0003577
83538	TTC25	Recurrent respiratory infections	HP:0002205
83538	TTC25	Bronchiectasis	HP:0002110
83538	TTC25	Cough	HP:0012735
1621	DBH	Nocturia	HP:0000017
1621	DBH	Seizures	HP:0001250
1621	DBH	Autosomal recessive inheritance	HP:0000007
1621	DBH	High palate	HP:0000218
1621	DBH	Intermittent hypothermia	HP:0005964
1621	DBH	Ptosis	HP:0000508
1621	DBH	Retrograde ejaculation	HP:0012877
1621	DBH	Orthostatic hypotension	HP:0001278
1621	DBH	Neonatal hypoglycemia	HP:0001998
9817	KEAP1	Pilomatrixoma	HP:0030434
9817	KEAP1	Multinodular goiter	HP:0005987
9817	KEAP1	Ovarian neoplasm	HP:0100615
9817	KEAP1	Testicular seminoma	HP:0100617
9817	KEAP1	Sertoli cell neoplasm	HP:0100619
9817	KEAP1	Thyroid carcinoma	HP:0002890
9817	KEAP1	Basal cell carcinoma	HP:0002671
9817	KEAP1	Renal cell carcinoma	HP:0005584
9817	KEAP1	Pleuropulmonary blastoma	HP:0100528
9817	KEAP1	Medulloepithelioma	HP:0030071
9817	KEAP1	Cerebellar medulloblastoma	HP:0007129
9817	KEAP1	Alveolar rhabdomyosarcoma	HP:0006779
9817	KEAP1	Colorectal polyposis	HP:0200063
83544	DNAL1	Situs inversus totalis	HP:0001696
83544	DNAL1	Absent outer dynein arms	HP:0012256
83544	DNAL1	Chronic rhinitis	HP:0002257
83544	DNAL1	Chronic otitis media	HP:0000389
83544	DNAL1	Chronic sinusitis	HP:0011109
83544	DNAL1	Abnormal ciliary motility	HP:0012262
83544	DNAL1	Autosomal recessive inheritance	HP:0000007
83544	DNAL1	Congenital onset	HP:0003577
83544	DNAL1	Ciliary dyskinesia	HP:0012265
83544	DNAL1	Recurrent respiratory infections	HP:0002205
83544	DNAL1	Bronchiectasis	HP:0002110
9820	CUL7	Short ribs	HP:0000773
9820	CUL7	Hypoplastic pelvis	HP:0008839
9820	CUL7	Autosomal recessive inheritance	HP:0000007
9820	CUL7	Hip dislocation	HP:0002827
9820	CUL7	Dolichocephaly	HP:0000268
9820	CUL7	Decreased fertility	HP:0000144
9820	CUL7	Enlarged thorax	HP:0100625
9820	CUL7	Malar flattening	HP:0000272
9820	CUL7	Short 5th finger	HP:0009237
9820	CUL7	Midface retrusion	HP:0011800
9820	CUL7	Protruding ear	HP:0000411
9820	CUL7	Slender long bone	HP:0003100
9820	CUL7	Bulbous nose	HP:0000414
9820	CUL7	Decreased testicular size	HP:0008734
9820	CUL7	Depressed nasal bridge	HP:0005280
9820	CUL7	Micromelia	HP:0002983
9820	CUL7	Abnormality of dental enamel	HP:0000682
9820	CUL7	Delayed eruption of teeth	HP:0000684
9820	CUL7	Rocker bottom foot	HP:0001838
9820	CUL7	Hypospadias	HP:0000047
9820	CUL7	Mandibular prognathia	HP:0000303
9820	CUL7	Abnormality of the metaphysis	HP:0000944
9820	CUL7	Abnormality of the cerebral vasculature	HP:0100659
9820	CUL7	Pointed chin	HP:0000307
9820	CUL7	Thick lower lip vermilion	HP:0000179
9820	CUL7	Joint hyperflexibility	HP:0005692
9820	CUL7	Thick eyebrow	HP:0000574
9820	CUL7	Delayed skeletal maturation	HP:0002750
9820	CUL7	Postnatal growth retardation	HP:0008897
9820	CUL7	Short thorax	HP:0010306
9820	CUL7	Triangular face	HP:0000325
9820	CUL7	Hypoplasia of the ulna	HP:0003022
9820	CUL7	Anteverted nares	HP:0000463
9820	CUL7	Broad forehead	HP:0000337
9820	CUL7	Abnormality of the elbow	HP:0009811
9820	CUL7	Neonatal respiratory distress	HP:0002643
9820	CUL7	Short neck	HP:0000470
9820	CUL7	Frontal bossing	HP:0002007
9820	CUL7	Long philtrum	HP:0000343
9820	CUL7	Scoliosis	HP:0002650
9820	CUL7	Increased vertebral height	HP:0004570
9820	CUL7	Congenital hip dislocation	HP:0001374
9820	CUL7	Short stature	HP:0004322
9820	CUL7	Spina bifida occulta	HP:0003298
9820	CUL7	Pes planus	HP:0001763
9820	CUL7	Hypoplastic pubic bone	HP:0003173
9820	CUL7	Joint hypermobility	HP:0001382
9820	CUL7	Hypoplastic ischia	HP:0003175
9820	CUL7	Intrauterine growth retardation	HP:0001511
9820	CUL7	Everted lower lip vermilion	HP:0000232
9820	CUL7	Hyperlordosis	HP:0003307
9820	CUL7	Scapular winging	HP:0003691
9820	CUL7	Small for gestational age	HP:0001518
9820	CUL7	Clinodactyly of the 5th finger	HP:0004209
9820	CUL7	Thin ribs	HP:0000883
9820	CUL7	Kyphosis	HP:0002808
9820	CUL7	Horizontal ribs	HP:0000888
9820	CUL7	Pectus excavatum	HP:0000767
9821	RB1CC1	Heterogeneous	HP:0001425
9821	RB1CC1	Somatic mutation	HP:0001428
9821	RB1CC1	Autosomal dominant inheritance	HP:0000006
9821	RB1CC1	Breast carcinoma	HP:0003002
1629	DBT	Intellectual disability	HP:0001249
1629	DBT	Hallucinations	HP:0000738
1629	DBT	Seizures	HP:0001250
1629	DBT	Growth abnormality	HP:0001507
1629	DBT	Ataxia	HP:0001251
1629	DBT	Muscular hypotonia	HP:0001252
1629	DBT	Cerebral edema	HP:0002181
1629	DBT	Pancreatitis	HP:0001733
1629	DBT	Lethargy	HP:0001254
1629	DBT	Autosomal recessive inheritance	HP:0000007
1629	DBT	Feeding difficulties in infancy	HP:0008872
1629	DBT	Generalized hypotonia	HP:0001290
1629	DBT	Coma	HP:0001259
1629	DBT	Recurrent	HP:0031796
1629	DBT	Increased level of hippuric acid in urine	HP:0410066
1629	DBT	Hypoglycemia	HP:0001943
1629	DBT	Elevated plasma branched chain amino acids	HP:0008344
1629	DBT	Lactic acidosis	HP:0003128
1629	DBT	Ketosis	HP:0001946
1629	DBT	Hypertonia	HP:0001276
1629	DBT	Vomiting	HP:0002013
1630	DCC	Ichthyosis	HP:0008064
1630	DCC	Gynecomastia	HP:0000771
1630	DCC	Fused cervical vertebrae	HP:0002949
1630	DCC	Autosomal dominant inheritance	HP:0000006
1630	DCC	Clumsiness	HP:0002312
1630	DCC	Gait disturbance	HP:0001288
1630	DCC	Dysgenesis of the hippocampus	HP:0025101
1630	DCC	Decreased fertility	HP:0000144
1630	DCC	Primary amenorrhea	HP:0000786
1630	DCC	Somatic mutation	HP:0001428
1630	DCC	Sensorineural hearing impairment	HP:0000407
1630	DCC	Cryptorchidism	HP:0000028
1630	DCC	Decreased testicular size	HP:0008734
1630	DCC	Erectile abnormalities	HP:0100639
1630	DCC	Color vision defect	HP:0000551
1630	DCC	Hypogonadotrophic hypogonadism	HP:0000044
1630	DCC	Squamous cell carcinoma	HP:0002860
1630	DCC	Muscle weakness	HP:0001324
1630	DCC	Cleft palate	HP:0000175
1630	DCC	Specific learning disability	HP:0001328
1630	DCC	Cerebral palsy	HP:0100021
1630	DCC	Micropenis	HP:0000054
1630	DCC	Paraplegia	HP:0010550
1630	DCC	Bimanual synkinesia	HP:0001335
1630	DCC	Delayed puberty	HP:0000823
1630	DCC	Tremor	HP:0001337
1630	DCC	Hyposmia	HP:0004409
1630	DCC	Easy fatigability	HP:0003388
1630	DCC	Abnormality of the corticospinal tract	HP:0002492
1630	DCC	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
1630	DCC	Delayed skeletal maturation	HP:0002750
1630	DCC	Anterior hypopituitarism	HP:0000830
1630	DCC	Dyspareunia	HP:0030016
1630	DCC	Hyperreflexia	HP:0001347
1630	DCC	Recurrent fractures	HP:0002757
1630	DCC	Abnormality of the voice	HP:0001608
1630	DCC	Anosmia	HP:0000458
1630	DCC	Uterine leiomyosarcoma	HP:0002891
1630	DCC	Reduced number of teeth	HP:0009804
1630	DCC	Renal cell carcinoma	HP:0005584
1630	DCC	Transitional cell carcinoma of the bladder	HP:0006740
1630	DCC	Abnormality of cardiovascular system morphology	HP:0030680
1630	DCC	Skeletal dysplasia	HP:0002652
1630	DCC	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
1630	DCC	Neoplasm of the stomach	HP:0006753
1630	DCC	Intellectual disability	HP:0001249
1630	DCC	Pes cavus	HP:0001761
1630	DCC	Poor fine motor coordination	HP:0007010
1630	DCC	Seizures	HP:0001250
1630	DCC	Ataxia	HP:0001251
1630	DCC	Pes planus	HP:0001763
1630	DCC	Muscular hypotonia	HP:0001252
1630	DCC	Intellectual disability, mild	HP:0001256
1630	DCC	Renal agenesis	HP:0000104
1630	DCC	Obesity	HP:0001513
1630	DCC	Dysarthria	HP:0001260
1630	DCC	Global developmental delay	HP:0001263
1630	DCC	Breast hypoplasia	HP:0003187
1630	DCC	Incomplete penetrance	HP:0003829
1630	DCC	Visual impairment	HP:0000505
1630	DCC	Agenesis of corpus callosum	HP:0001274
1630	DCC	Ptosis	HP:0000508
1630	DCC	Reduced bone mineral density	HP:0004349
1630	DCC	Myalgia	HP:0003326
1630	DCC	Nystagmus	HP:0000639
83550	GPR101	Broad jaw	HP:0012802
83550	GPR101	Macrodactyly	HP:0004099
83550	GPR101	Arthralgia	HP:0002829
83550	GPR101	X-linked dominant inheritance	HP:0001423
83550	GPR101	Generalized hyperpigmentation	HP:0007440
83550	GPR101	Macrotia	HP:0000400
83550	GPR101	Cortical diaphyseal thickening of the upper limbs	HP:0003859
83550	GPR101	Long face	HP:0000276
83550	GPR101	Large hands	HP:0001176
83550	GPR101	Coarse facial features	HP:0000280
83550	GPR101	Synophrys	HP:0000664
83550	GPR101	Migraine	HP:0002076
83550	GPR101	Macroglossia	HP:0000158
83550	GPR101	Tapered finger	HP:0001182
83550	GPR101	Polyphagia	HP:0002591
83550	GPR101	Impotence	HP:0000802
83550	GPR101	Full cheeks	HP:0000293
83550	GPR101	Acne	HP:0001061
83550	GPR101	Body odor	HP:0500001
83550	GPR101	Dysuria	HP:0100518
83550	GPR101	Sleep apnea	HP:0010535
83550	GPR101	Long penis	HP:0000040
83550	GPR101	Long foot	HP:0001833
83550	GPR101	Hypogonadotrophic hypogonadism	HP:0000044
83550	GPR101	Deep palmar crease	HP:0006191
83550	GPR101	Mandibular prognathia	HP:0000303
83550	GPR101	Widely spaced teeth	HP:0000687
83550	GPR101	Ventricular hypertrophy	HP:0001714
83550	GPR101	Diabetes mellitus	HP:0000819
83550	GPR101	Thick lower lip vermilion	HP:0000179
83550	GPR101	Hypersomnia	HP:0100786
83550	GPR101	Snoring	HP:0025267
83550	GPR101	Cerebral palsy	HP:0100021
83550	GPR101	Hypertension	HP:0000822
83550	GPR101	Generalized hirsutism	HP:0002230
83550	GPR101	Wide penis	HP:0030265
83550	GPR101	Acanthosis nigricans	HP:0000956
83550	GPR101	Wide nose	HP:0000445
83550	GPR101	Palpebral edema	HP:0100540
83550	GPR101	Anterior hypopituitarism	HP:0000830
83550	GPR101	Abnormal toenail morphology	HP:0008388
83550	GPR101	Osteoarthritis	HP:0002758
83550	GPR101	Hoarse voice	HP:0001609
83550	GPR101	Paresthesia	HP:0003401
83550	GPR101	Depressivity	HP:0000716
83550	GPR101	Deep plantar creases	HP:0001869
83550	GPR101	Growth hormone excess	HP:0000845
83550	GPR101	Pituitary adenoma	HP:0002893
83550	GPR101	Hyperhidrosis	HP:0000975
83550	GPR101	Abnormal fingernail morphology	HP:0001231
83550	GPR101	Broad forehead	HP:0000337
83550	GPR101	Frontal bossing	HP:0002007
83550	GPR101	Spinal canal stenosis	HP:0003416
83550	GPR101	Fatigue	HP:0012378
83550	GPR101	Galactorrhea	HP:0100829
83550	GPR101	Tall stature	HP:0000098
83550	GPR101	Anxiety	HP:0000739
83550	GPR101	Hypertrophic cardiomyopathy	HP:0001639
83550	GPR101	Broad foot	HP:0001769
83550	GPR101	Joint swelling	HP:0001386
83550	GPR101	Pituitary prolactin cell adenoma	HP:0006767
83550	GPR101	Pituitary growth hormone cell adenoma	HP:0011760
83550	GPR101	Accelerated skeletal maturation	HP:0005616
83550	GPR101	Mitral regurgitation	HP:0001653
83550	GPR101	Kyphosis	HP:0002808
83550	GPR101	Dysmenorrhea	HP:0100607
83552	MFRP	Abnormal choroid morphology	HP:0000610
83552	MFRP	Abnormal light- and dark-adapted electroretinogram	HP:0008323
83552	MFRP	Photophobia	HP:0000613
83552	MFRP	Strabismus	HP:0000486
83552	MFRP	Cataract	HP:0000518
83552	MFRP	Autosomal recessive inheritance	HP:0000007
83552	MFRP	Scleral thickening	HP:0030823
83552	MFRP	Abnormality of skin pigmentation	HP:0001000
83552	MFRP	Retinal pigment epithelial atrophy	HP:0007722
83552	MFRP	Optic disc drusen	HP:0012426
83552	MFRP	Reduced visual acuity	HP:0007663
83552	MFRP	Cystoid macular edema	HP:0011505
83552	MFRP	High hypermetropia	HP:0008499
83552	MFRP	Glaucoma	HP:0000501
83552	MFRP	Nyctalopia	HP:0000662
83552	MFRP	Abnormality of retinal pigmentation	HP:0007703
83552	MFRP	Microphthalmia	HP:0000568
83552	MFRP	Foveoschisis	HP:0012152
83552	MFRP	Bone spicule pigmentation of the retina	HP:0007737
83552	MFRP	Hypermetropia	HP:0000540
83552	MFRP	Rod-cone dystrophy	HP:0000510
124512	METTL23	Depressed nasal bridge	HP:0005280
124512	METTL23	Intellectual disability	HP:0001249
124512	METTL23	Seizures	HP:0001250
124512	METTL23	Pes planus	HP:0001763
124512	METTL23	Variable expressivity	HP:0003828
124512	METTL23	Autosomal recessive inheritance	HP:0000007
124512	METTL23	Long philtrum	HP:0000343
124512	METTL23	Infantile onset	HP:0003593
124512	METTL23	Thin vermilion border	HP:0000233
124512	METTL23	Flat occiput	HP:0005469
124512	METTL23	Cognitive impairment	HP:0100543
124512	METTL23	Global developmental delay	HP:0001263
1634	DCN	Progressive visual loss	HP:0000529
1634	DCN	Congenital corneal dystrophy	HP:0008005
1634	DCN	Glaucoma	HP:0000501
1634	DCN	Autosomal dominant inheritance	HP:0000006
1634	DCN	Strabismus	HP:0000486
1634	DCN	Increased corneal thickness	HP:0011487
1636	ACE	Renotubular dysgenesis	HP:0008660
1636	ACE	Anuria	HP:0100519
1636	ACE	Autosomal recessive inheritance	HP:0000007
1636	ACE	Hypotension	HP:0002615
1636	ACE	Pulmonary hypoplasia	HP:0002089
1636	ACE	Potter facies	HP:0002009
1636	ACE	Oligohydramnios	HP:0001562
1636	ACE	Microcephaly	HP:0000252
1636	ACE	Widely patent fontanelles and sutures	HP:0004492
1636	ACE	Respiratory insufficiency	HP:0002093
1636	ACE	Abnormality of the urinary system	HP:0000079
9829	DNAJC6	Akinesia	HP:0002304
9829	DNAJC6	Autosomal recessive inheritance	HP:0000007
9829	DNAJC6	Leg muscle stiffness	HP:0008969
9829	DNAJC6	Rigidity	HP:0002063
9829	DNAJC6	Short stepped shuffling gait	HP:0007311
9829	DNAJC6	Gait ataxia	HP:0002066
9829	DNAJC6	Resting tremor	HP:0002322
9829	DNAJC6	Hypomimic face	HP:0000338
9829	DNAJC6	Bradykinesia	HP:0002067
9829	DNAJC6	Parkinsonism	HP:0001300
9829	DNAJC6	Weak voice	HP:0001621
9829	DNAJC6	Abnormal pyramidal sign	HP:0007256
9829	DNAJC6	Scoliosis	HP:0002650
9829	DNAJC6	Fatigue	HP:0012378
9829	DNAJC6	Brain atrophy	HP:0012444
9829	DNAJC6	Slow progression	HP:0003677
9829	DNAJC6	Rapidly progressive	HP:0003678
9829	DNAJC6	Intellectual disability	HP:0001249
9829	DNAJC6	Pes cavus	HP:0001761
9829	DNAJC6	Hallucinations	HP:0000738
9829	DNAJC6	Seizures	HP:0001250
9829	DNAJC6	Spasticity	HP:0001257
9829	DNAJC6	Dysarthria	HP:0001260
9829	DNAJC6	Inability to walk	HP:0002540
9829	DNAJC6	Hyporeflexia	HP:0001265
9829	DNAJC6	Dystonia	HP:0001332
9829	DNAJC6	Myoclonus	HP:0001336
9829	DNAJC6	Tremor	HP:0001337
9829	DNAJC6	Anarthria	HP:0002425
9829	DNAJC6	Shuffling gait	HP:0002362
9829	DNAJC6	Hypometric saccades	HP:0000571
9829	DNAJC6	Postural instability	HP:0002172
9829	DNAJC6	Slowed slurred speech	HP:0007164
9829	DNAJC6	Cognitive impairment	HP:0100543
1639	DCTN1	Skeletal muscle atrophy	HP:0003202
1639	DCTN1	Neurodegeneration	HP:0002180
1639	DCTN1	Facial palsy	HP:0010628
1639	DCTN1	Autosomal dominant inheritance	HP:0000006
1639	DCTN1	Paralysis	HP:0003470
1639	DCTN1	Short stepped shuffling gait	HP:0007311
1639	DCTN1	Rigidity	HP:0002063
1639	DCTN1	Bradykinesia	HP:0002067
1639	DCTN1	Abnormality of metabolism/homeostasis	HP:0001939
1639	DCTN1	Parkinsonism	HP:0001300
1639	DCTN1	Distal muscle weakness	HP:0002460
1639	DCTN1	Hand muscle weakness	HP:0030237
1639	DCTN1	Weight loss	HP:0001824
1639	DCTN1	Mask-like facies	HP:0000298
1639	DCTN1	Hand muscle atrophy	HP:0009130
1639	DCTN1	Lower limb muscle weakness	HP:0007340
1639	DCTN1	Respiratory insufficiency	HP:0002093
1639	DCTN1	Dyspnea	HP:0002094
1639	DCTN1	Insomnia	HP:0100785
1639	DCTN1	Hypotension	HP:0002615
1639	DCTN1	Sleep disturbance	HP:0002360
1639	DCTN1	Tremor	HP:0001337
1639	DCTN1	Amyotrophic lateral sclerosis	HP:0007354
1639	DCTN1	Respiratory failure	HP:0002878
1639	DCTN1	Abnormal lower motor neuron morphology	HP:0002366
1639	DCTN1	Muscle spasm	HP:0003394
1639	DCTN1	Vocal cord paralysis	HP:0001605
1639	DCTN1	Central hypoventilation	HP:0007110
1639	DCTN1	Emotional lability	HP:0000712
1639	DCTN1	Agitation	HP:0000713
1639	DCTN1	Depressivity	HP:0000716
1639	DCTN1	Inappropriate behavior	HP:0000719
1639	DCTN1	Laryngospasm	HP:0025425
1639	DCTN1	Weak voice	HP:0001621
1639	DCTN1	Dementia	HP:0000726
1639	DCTN1	Xerostomia	HP:0000217
1639	DCTN1	Fatigue	HP:0012378
1639	DCTN1	Slow progression	HP:0003677
1639	DCTN1	Rapidly progressive	HP:0003678
1639	DCTN1	Frontotemporal dementia	HP:0002145
1639	DCTN1	Nausea and vomiting	HP:0002017
1639	DCTN1	Anxiety	HP:0000739
1639	DCTN1	Apathy	HP:0000741
1639	DCTN1	Hypoventilation	HP:0002791
1639	DCTN1	Spasticity	HP:0001257
1639	DCTN1	Dysarthria	HP:0001260
1639	DCTN1	Distal amyotrophy	HP:0003693
1639	DCTN1	Personality changes	HP:0000751
1639	DCTN1	Fatigable weakness of swallowing muscles	HP:0030195
1639	DCTN1	Pain	HP:0012531
1639	DCTN1	Fatigable weakness of respiratory muscles	HP:0030196
1639	DCTN1	Generalized muscle weakness	HP:0003324
1639	DCTN1	Adult onset	HP:0003581
1639	DCTN1	Vertical supranuclear gaze palsy	HP:0000511
1641	DCX	Feeding difficulties	HP:0011968
1641	DCX	Postnatal growth retardation	HP:0008897
1641	DCX	Intellectual disability	HP:0001249
1641	DCX	Seizures	HP:0001250
1641	DCX	Ataxia	HP:0001251
1641	DCX	Muscular hypotonia	HP:0001252
1641	DCX	Muscular hypotonia of the trunk	HP:0008936
1641	DCX	Infantile onset	HP:0003593
1641	DCX	Spasticity	HP:0001257
1641	DCX	X-linked inheritance	HP:0001417
1641	DCX	Gray matter heterotopia	HP:0002282
1641	DCX	Agyria	HP:0031882
1641	DCX	Dysarthria	HP:0001260
1641	DCX	Intellectual disability, severe	HP:0010864
1641	DCX	Death in infancy	HP:0001522
1641	DCX	Incomplete penetrance	HP:0003829
1641	DCX	Motor delay	HP:0001270
1641	DCX	Micropenis	HP:0000054
1641	DCX	Pachygyria	HP:0001302
1641	DCX	Agenesis of corpus callosum	HP:0001274
1641	DCX	Hypertonia	HP:0001276
1641	DCX	Nystagmus	HP:0000639
91754	NEK9	Ichthyosis	HP:0008064
91754	NEK9	Omphalocele	HP:0001539
91754	NEK9	Fetal akinesia sequence	HP:0001989
91754	NEK9	Cataract	HP:0000518
91754	NEK9	Hamartoma	HP:0010566
91754	NEK9	Autosomal recessive inheritance	HP:0000007
91754	NEK9	Hypoplasia of the thymus	HP:0000778
91754	NEK9	Abnormal vertebral morphology	HP:0003468
91754	NEK9	Somatic mutation	HP:0001428
91754	NEK9	Finger syndactyly	HP:0006101
91754	NEK9	Short neck	HP:0000470
91754	NEK9	Long philtrum	HP:0000343
91754	NEK9	Atopic dermatitis	HP:0001047
91754	NEK9	Torticollis	HP:0000473
91754	NEK9	High palate	HP:0000218
91754	NEK9	Oligohydramnios	HP:0001562
91754	NEK9	Scoliosis	HP:0002650
91754	NEK9	Micrognathia	HP:0000347
91754	NEK9	Nevus flammeus	HP:0001052
91754	NEK9	Adducted thumb	HP:0001181
91754	NEK9	Ventricular septal defect	HP:0001629
91754	NEK9	Atrial septal defect	HP:0001631
91754	NEK9	Camptodactyly	HP:0012385
91754	NEK9	Comedo	HP:0025249
91754	NEK9	Talipes equinovarus	HP:0001762
91754	NEK9	Seizures	HP:0001250
91754	NEK9	Spina bifida occulta	HP:0003298
91754	NEK9	Preaxial polydactyly	HP:0100258
91754	NEK9	Full cheeks	HP:0000293
91754	NEK9	Pyloric stenosis	HP:0002021
91754	NEK9	Intrauterine growth retardation	HP:0001511
91754	NEK9	Cardiomegaly	HP:0001640
91754	NEK9	Pulmonary hypoplasia	HP:0002089
91754	NEK9	Stiff neck	HP:0025258
91754	NEK9	Pulmonic stenosis	HP:0001642
91754	NEK9	Toe syndactyly	HP:0001770
91754	NEK9	Asthma	HP:0002099
91754	NEK9	Arthrogryposis multiplex congenita	HP:0002804
91754	NEK9	Broad ribs	HP:0000885
91754	NEK9	Overlapping toe	HP:0001845
91754	NEK9	Abnormal hair morphology	HP:0001595
91754	NEK9	Microcephaly	HP:0000252
91754	NEK9	Narrow palate	HP:0000189
91754	NEK9	Hydrops fetalis	HP:0001789
91754	NEK9	Overlapping fingers	HP:0010557
91754	NEK9	Overriding aorta	HP:0002623
91754	NEK9	Thoracic scoliosis	HP:0002943
1643	DDB2	Poikiloderma	HP:0001029
1643	DDB2	Cataract	HP:0000518
1643	DDB2	Autosomal recessive inheritance	HP:0000007
1643	DDB2	Defective DNA repair after ultraviolet radiation damage	HP:0003079
1643	DDB2	Hypogonadism	HP:0000135
1643	DDB2	Optic atrophy	HP:0000648
1643	DDB2	Hypermelanotic macule	HP:0001034
1643	DDB2	Conjunctival telangiectasia	HP:0000524
1643	DDB2	Craniofacial hyperostosis	HP:0004493
1643	DDB2	Arthralgia	HP:0002829
1643	DDB2	Ectropion	HP:0000656
1643	DDB2	Sensorineural hearing impairment	HP:0000407
1643	DDB2	Abnormality of extrapyramidal motor function	HP:0002071
1643	DDB2	Flat nasal alae	HP:0010649
1643	DDB2	Fever	HP:0001945
1643	DDB2	Aminoaciduria	HP:0003355
1643	DDB2	Ankyloblepharon	HP:0009755
1643	DDB2	Cryptorchidism	HP:0000028
1643	DDB2	Hypopigmented skin patches	HP:0001053
1643	DDB2	Decreased testicular size	HP:0008734
1643	DDB2	Erythema	HP:0010783
1643	DDB2	Reduced tendon reflexes	HP:0001315
1643	DDB2	Pterygium	HP:0001059
1643	DDB2	Abnormality of the dentition	HP:0000164
1643	DDB2	Melanoma	HP:0002861
1643	DDB2	Neoplasm of the eye	HP:0100012
1643	DDB2	EEG abnormality	HP:0002353
1643	DDB2	Alopecia	HP:0001596
1643	DDB2	Delayed skeletal maturation	HP:0002750
1643	DDB2	Cognitive impairment	HP:0100543
1643	DDB2	Dry skin	HP:0000958
1643	DDB2	Hyperkeratosis	HP:0000962
1643	DDB2	Thin skin	HP:0000963
1643	DDB2	Papilloma	HP:0012740
1643	DDB2	Developmental regression	HP:0002376
1643	DDB2	Freckling	HP:0001480
1643	DDB2	Cerebral cortical atrophy	HP:0002120
1643	DDB2	Opacification of the corneal stroma	HP:0007759
1643	DDB2	Squamous cell carcinoma of the skin	HP:0006739
1643	DDB2	Fatigue	HP:0012378
1643	DDB2	Cutaneous photosensitivity	HP:0000992
1643	DDB2	Short stature	HP:0004322
1643	DDB2	Seizures	HP:0001250
1643	DDB2	Melanocytic nevus	HP:0000995
1643	DDB2	Ataxia	HP:0001251
1643	DDB2	Failure to thrive	HP:0001508
1643	DDB2	Photophobia	HP:0000613
1643	DDB2	Peripheral neuropathy	HP:0009830
1643	DDB2	Strabismus	HP:0000486
1643	DDB2	Intellectual disability, progressive	HP:0006887
1643	DDB2	Telangiectasia of the skin	HP:0100585
1643	DDB2	Spasticity	HP:0001257
1643	DDB2	Keratitis	HP:0000491
1643	DDB2	Entropion	HP:0000621
1643	DDB2	Dermal atrophy	HP:0004334
1643	DDB2	Basal cell carcinoma	HP:0002671
1643	DDB2	Telangiectasia	HP:0001009
1643	DDB2	Blepharitis	HP:0000498
1643	DDB2	Microcephaly	HP:0000252
1643	DDB2	Conjunctivitis	HP:0000509
1644	DDC	Hyperreflexia	HP:0001347
1644	DDC	Autosomal recessive inheritance	HP:0000007
1644	DDC	Emotional lability	HP:0000712
1644	DDC	Infantile onset	HP:0003593
1644	DDC	Decreased CSF homovanillic acid	HP:0003785
1644	DDC	Intermittent hypothermia	HP:0005964
1644	DDC	Limb hypertonia	HP:0002509
1644	DDC	Nasal obstruction	HP:0001742
1644	DDC	Abnormality of the face	HP:0000271
1644	DDC	Hyperhidrosis	HP:0000975
1644	DDC	Temperature instability	HP:0005968
1644	DDC	Limb dystonia	HP:0002451
1644	DDC	Diarrhea	HP:0002014
1644	DDC	Babinski sign	HP:0003487
1644	DDC	Irritability	HP:0000737
1644	DDC	Constipation	HP:0002019
1644	DDC	Gastroesophageal reflux	HP:0002020
1644	DDC	Miosis	HP:0000616
1644	DDC	Feeding difficulties in infancy	HP:0008872
1644	DDC	Muscular hypotonia of the trunk	HP:0008936
1644	DDC	Global developmental delay	HP:0001263
1644	DDC	Choreoathetosis	HP:0001266
1644	DDC	Hypotension	HP:0002615
1644	DDC	Myoclonus	HP:0001336
1644	DDC	Sleep disturbance	HP:0002360
1644	DDC	Ptosis	HP:0000508
9837	GINS1	Ichthyosis	HP:0008064
9837	GINS1	Postnatal growth retardation	HP:0008897
9837	GINS1	Neutropenia	HP:0001875
9837	GINS1	Eczema	HP:0000964
9837	GINS1	Intrauterine growth retardation	HP:0001511
9837	GINS1	Lymphadenopathy	HP:0002716
9837	GINS1	Recurrent skin infections	HP:0001581
9837	GINS1	Diarrhea	HP:0002014
9837	GINS1	Dry skin	HP:0000958
9837	GINS1	Myelodysplasia	HP:0002863
9837	GINS1	Recurrent infections	HP:0002719
1646	AKR1C2	Male pseudohermaphroditism	HP:0000037
1646	AKR1C2	Sex reversal	HP:0012245
1646	AKR1C2	Autosomal recessive inheritance	HP:0000007
1646	AKR1C2	Cryptorchidism	HP:0000028
1646	AKR1C2	Ambiguous genitalia	HP:0000062
9839	ZEB2	Pectus carinatum	HP:0000768
9839	ZEB2	Drooling	HP:0002307
9839	ZEB2	Autosomal dominant inheritance	HP:0000006
9839	ZEB2	Generalized muscle hypertrophy	HP:0003720
9839	ZEB2	Large basal ganglia	HP:0007048
9839	ZEB2	Generalized hypotonia	HP:0001290
9839	ZEB2	Abnormal morphology of the hippocampus	HP:0025100
9839	ZEB2	Aplasia/Hypoplasia of the cerebral white matter	HP:0012429
9839	ZEB2	Happy demeanor	HP:0040082
9839	ZEB2	Recurrent otitis media	HP:0000403
9839	ZEB2	Large earlobe	HP:0009748
9839	ZEB2	Prominent nasal tip	HP:0005274
9839	ZEB2	Cryptorchidism	HP:0000028
9839	ZEB2	Hypoplasia of the corpus callosum	HP:0002079
9839	ZEB2	Low hanging columella	HP:0009765
9839	ZEB2	Delayed eruption of teeth	HP:0000684
9839	ZEB2	Widely spaced teeth	HP:0000687
9839	ZEB2	Cleft palate	HP:0000175
9839	ZEB2	Wide nasal bridge	HP:0000431
9839	ZEB2	Hypospadias	HP:0000047
9839	ZEB2	Submucous cleft hard palate	HP:0000176
9839	ZEB2	Bifid scrotum	HP:0000048
9839	ZEB2	Pointed chin	HP:0000307
9839	ZEB2	Misalignment of teeth	HP:0000692
9839	ZEB2	Esotropia	HP:0000565
9839	ZEB2	Uplifted earlobe	HP:0009909
9839	ZEB2	Hypertelorism	HP:0000316
9839	ZEB2	Pulmonary artery stenosis	HP:0004415
9839	ZEB2	Absent speech	HP:0001344
9839	ZEB2	Abdominal distention	HP:0003270
9839	ZEB2	Ventriculomegaly	HP:0002119
9839	ZEB2	Aganglionic megacolon	HP:0002251
9839	ZEB2	Abnormality of the kidney	HP:0000077
9839	ZEB2	Abnormal eye morphology	HP:0012372
9839	ZEB2	Abnormal heart morphology	HP:0001627
9839	ZEB2	Ventricular septal defect	HP:0001629
9839	ZEB2	Broad eyebrow	HP:0011229
9839	ZEB2	Vomiting	HP:0002013
9839	ZEB2	Atrial septal defect	HP:0001631
9839	ZEB2	Pulmonary artery sling	HP:0004961
9839	ZEB2	Short stature	HP:0004322
9839	ZEB2	Seizures	HP:0001250
9839	ZEB2	Constipation	HP:0002019
9839	ZEB2	Iris coloboma	HP:0000612
9839	ZEB2	Pyloric stenosis	HP:0002021
9839	ZEB2	Strabismus	HP:0000486
9839	ZEB2	Deeply set eye	HP:0000490
9839	ZEB2	Pulmonic stenosis	HP:0001642
9839	ZEB2	Patent ductus arteriosus	HP:0001643
9839	ZEB2	Downslanted palpebral fissures	HP:0000494
9839	ZEB2	Intellectual disability, severe	HP:0010864
9839	ZEB2	Motor delay	HP:0001270
9839	ZEB2	Cupped ear	HP:0000378
9839	ZEB2	Agenesis of corpus callosum	HP:0001274
9839	ZEB2	Microcephaly	HP:0000252
9839	ZEB2	Ptosis	HP:0000508
9839	ZEB2	Supernumerary nipple	HP:0002558
9839	ZEB2	Pectus excavatum	HP:0000767
9841	ZBTB24	Macrocephaly	HP:0000256
9841	ZBTB24	Umbilical hernia	HP:0001537
9841	ZBTB24	Autosomal recessive inheritance	HP:0000007
9841	ZBTB24	Short chin	HP:0000331
9841	ZBTB24	Anteverted nares	HP:0000463
9841	ZBTB24	Flat face	HP:0012368
9841	ZBTB24	Abnormality of neutrophils	HP:0001874
9841	ZBTB24	Abnormality of chromosome stability	HP:0003220
9841	ZBTB24	Retrognathia	HP:0000278
9841	ZBTB24	Decreased antibody level in blood	HP:0004313
9841	ZBTB24	High palate	HP:0000218
9841	ZBTB24	Micrognathia	HP:0000347
9841	ZBTB24	Recurrent respiratory infections	HP:0002205
9841	ZBTB24	Epicanthus	HP:0000286
9841	ZBTB24	Macroglossia	HP:0000158
9841	ZBTB24	Recurrent infections	HP:0002719
9841	ZBTB24	Depressed nasal bridge	HP:0005280
9841	ZBTB24	Lymphopenia	HP:0001888
9841	ZBTB24	Intellectual disability	HP:0001249
9841	ZBTB24	Immunodeficiency	HP:0002721
9841	ZBTB24	Short stature	HP:0004322
9841	ZBTB24	Growth delay	HP:0001510
9841	ZBTB24	Malabsorption	HP:0002024
9841	ZBTB24	Pneumonia	HP:0002090
9841	ZBTB24	Anemia	HP:0001903
9841	ZBTB24	Global developmental delay	HP:0001263
9841	ZBTB24	Low-set ears	HP:0000369
9841	ZBTB24	Chronic bronchitis	HP:0004469
9841	ZBTB24	Motor delay	HP:0001270
9841	ZBTB24	Communicating hydrocephalus	HP:0001334
9841	ZBTB24	Round face	HP:0000311
9841	ZBTB24	Protruding tongue	HP:0010808
9841	ZBTB24	Congenital onset	HP:0003577
9841	ZBTB24	Hypertelorism	HP:0000316
9841	ZBTB24	Short nose	HP:0003196
9841	ZBTB24	Cellular immunodeficiency	HP:0005374
1649	DDIT3	Gastrointestinal dysmotility	HP:0002579
1649	DDIT3	Subcutaneous nodule	HP:0001482
1649	DDIT3	Abdominal pain	HP:0002027
9842	PLEKHM1	Recurrent fractures	HP:0002757
9842	PLEKHM1	Autosomal dominant inheritance	HP:0000006
9842	PLEKHM1	Autosomal recessive inheritance	HP:0000007
9842	PLEKHM1	Osteopetrosis	HP:0011002
9842	PLEKHM1	Osteopenia	HP:0000938
9842	PLEKHM1	Thickened calvaria	HP:0002684
9842	PLEKHM1	Dense metaphyseal bands	HP:0100959
9842	PLEKHM1	Erlenmeyer flask deformity of the femurs	HP:0004975
9842	PLEKHM1	Anemia	HP:0001903
1650	DDOST	Primary hypothyroidism	HP:0000832
1650	DDOST	Decreased liver function	HP:0001410
1650	DDOST	Oromotor apraxia	HP:0007301
1650	DDOST	Autosomal recessive inheritance	HP:0000007
1650	DDOST	Infantile onset	HP:0003593
1650	DDOST	Generalized hypotonia	HP:0001290
1650	DDOST	Neurodevelopmental delay	HP:0012758
1650	DDOST	Elevated hepatic transaminase	HP:0002910
1650	DDOST	Short stature	HP:0004322
1650	DDOST	Seizures	HP:0001250
1650	DDOST	Constipation	HP:0002019
1650	DDOST	Gastroesophageal reflux	HP:0002020
1650	DDOST	Failure to thrive	HP:0001508
1650	DDOST	Recurrent ear infections	HP:0410018
1650	DDOST	CNS hypomyelination	HP:0003429
1650	DDOST	Lipodystrophy	HP:0009125
1650	DDOST	Strabismus	HP:0000486
1650	DDOST	Osteopenia	HP:0000938
1650	DDOST	Global developmental delay	HP:0001263
1650	DDOST	Accelerated skeletal maturation	HP:0005616
1650	DDOST	Nephrotic range proteinuria	HP:0012593
1650	DDOST	Esotropia	HP:0000565
1650	DDOST	Hepatic steatosis	HP:0001397
1650	DDOST	Neurological speech impairment	HP:0002167
1650	DDOST	Abnormality of the coagulation cascade	HP:0003256
1650	DDOST	Tremor	HP:0001337
1650	DDOST	Type I transferrin isoform profile	HP:0003642
1650	DDOST	Dry skin	HP:0000958
100033413	SNORD116-1	Clinodactyly	HP:0030084
100033413	SNORD116-1	Acromicria	HP:0031878
100033413	SNORD116-1	Syndactyly	HP:0001159
100033413	SNORD116-1	Generalized hypotonia	HP:0001290
100033413	SNORD116-1	Dolichocephaly	HP:0000268
100033413	SNORD116-1	Primary amenorrhea	HP:0000786
100033413	SNORD116-1	Infertility	HP:0000789
100033413	SNORD116-1	Decreased fetal movement	HP:0001558
100033413	SNORD116-1	Downturned corners of mouth	HP:0002714
100033413	SNORD116-1	Cryptorchidism	HP:0000028
100033413	SNORD116-1	Hypermetropia	HP:0000540
100033413	SNORD116-1	Recurrent respiratory infections	HP:0002205
100033413	SNORD116-1	Carious teeth	HP:0000670
100033413	SNORD116-1	Polyphagia	HP:0002591
100033413	SNORD116-1	Impaired pain sensation	HP:0007328
100033413	SNORD116-1	Sporadic	HP:0003745
100033413	SNORD116-1	Myopia	HP:0000545
100033413	SNORD116-1	Sleep apnea	HP:0010535
100033413	SNORD116-1	Neonatal hypotonia	HP:0001319
100033413	SNORD116-1	Genu valgum	HP:0002857
100033413	SNORD116-1	Osteopenia	HP:0000938
100033413	SNORD116-1	Osteoporosis	HP:0000939
100033413	SNORD116-1	Hypogonadotrophic hypogonadism	HP:0000044
100033413	SNORD116-1	Scrotal hypoplasia	HP:0000046
100033413	SNORD116-1	Specific learning disability	HP:0001328
100033413	SNORD116-1	Iris hypopigmentation	HP:0007730
100033413	SNORD116-1	Esotropia	HP:0000565
100033413	SNORD116-1	Micropenis	HP:0000054
100033413	SNORD116-1	Delayed puberty	HP:0000823
100033413	SNORD116-1	Short palm	HP:0004279
100033413	SNORD116-1	Growth hormone deficiency	HP:0000824
100033413	SNORD116-1	Precocious puberty	HP:0000826
100033413	SNORD116-1	Narrow palm	HP:0004283
100033413	SNORD116-1	Frontal upsweep of hair	HP:0002236
100033413	SNORD116-1	Clitoral hypoplasia	HP:0000060
100033413	SNORD116-1	Narrow nasal bridge	HP:0000446
100033413	SNORD116-1	Hypoplastic labia minora	HP:0000064
100033413	SNORD116-1	Almond-shaped palpebral fissure	HP:0007874
100033413	SNORD116-1	Psychosis	HP:0000709
100033413	SNORD116-1	Upslanted palpebral fissure	HP:0000582
100033413	SNORD116-1	Ventriculomegaly	HP:0002119
100033413	SNORD116-1	Abdominal obesity	HP:0012743
100033413	SNORD116-1	Hyperinsulinemia	HP:0000842
100033413	SNORD116-1	Nasal speech	HP:0001611
100033413	SNORD116-1	Autism	HP:0000717
100033413	SNORD116-1	Adrenal insufficiency	HP:0000846
100033413	SNORD116-1	Temperature instability	HP:0005968
100033413	SNORD116-1	Narrow forehead	HP:0000341
100033413	SNORD116-1	Generalized hypopigmentation	HP:0007513
100033413	SNORD116-1	Type II diabetes mellitus	HP:0005978
100033413	SNORD116-1	Scoliosis	HP:0002650
100033413	SNORD116-1	Thin upper lip vermilion	HP:0000219
100033413	SNORD116-1	Hypopigmentation of hair	HP:0005599
100033413	SNORD116-1	Cutaneous photosensitivity	HP:0000992
100033413	SNORD116-1	Seizures	HP:0001250
100033413	SNORD116-1	Short stature	HP:0004322
100033413	SNORD116-1	Poor fine motor coordination	HP:0007010
100033413	SNORD116-1	Poor gross motor coordination	HP:0007015
100033413	SNORD116-1	Hypoventilation	HP:0002791
100033413	SNORD116-1	Hip dysplasia	HP:0001385
100033413	SNORD116-1	Attention deficit hyperactivity disorder	HP:0007018
100033413	SNORD116-1	Oligomenorrhea	HP:0000876
100033413	SNORD116-1	Short foot	HP:0001773
100033413	SNORD116-1	Delayed speech and language development	HP:0000750
100033413	SNORD116-1	Global developmental delay	HP:0001263
100033413	SNORD116-1	Poor suck	HP:0002033
100033413	SNORD116-1	Small hand	HP:0200055
100033413	SNORD116-1	Motor delay	HP:0001270
100033413	SNORD116-1	Kyphosis	HP:0002808
100033413	SNORD116-1	Radial deviation of finger	HP:0009466
100033413	SNORD116-1	Failure to thrive in infancy	HP:0001531
100033413	SNORD116-1	Decreased muscle mass	HP:0003199
26227	PHGDH	Umbilical hernia	HP:0001537
26227	PHGDH	Athetosis	HP:0002305
26227	PHGDH	Joint contracture of the hand	HP:0009473
26227	PHGDH	Cataract	HP:0000518
26227	PHGDH	Generalized edema	HP:0007430
26227	PHGDH	Inappropriate crying	HP:0030215
26227	PHGDH	Developmental cataract	HP:0000519
26227	PHGDH	Autosomal recessive inheritance	HP:0000007
26227	PHGDH	Proptosis	HP:0000520
26227	PHGDH	Prominent occiput	HP:0000269
26227	PHGDH	Hydranencephaly	HP:0002324
26227	PHGDH	Generalized tonic-clonic seizures	HP:0002069
26227	PHGDH	Decreased fetal movement	HP:0001558
26227	PHGDH	Retrognathia	HP:0000278
26227	PHGDH	Pachygyria	HP:0001302
26227	PHGDH	Inguinal hernia	HP:0000023
26227	PHGDH	Esophagitis	HP:0100633
26227	PHGDH	Polyhydramnios	HP:0001561
26227	PHGDH	Dandy-Walker malformation	HP:0001305
26227	PHGDH	Cryptorchidism	HP:0000028
26227	PHGDH	Decreased testicular size	HP:0008734
26227	PHGDH	Hypoplasia of the corpus callosum	HP:0002079
26227	PHGDH	Abnormality of the philtrum	HP:0000288
26227	PHGDH	Pterygium	HP:0001059
26227	PHGDH	Pulmonary hypoplasia	HP:0002089
26227	PHGDH	Cerebellar hypoplasia	HP:0001321
26227	PHGDH	Rocker bottom foot	HP:0001838
26227	PHGDH	Absent eyelashes	HP:0000561
26227	PHGDH	Absent septum pellucidum	HP:0001331
26227	PHGDH	Esotropia	HP:0000565
26227	PHGDH	Calcaneovalgus deformity	HP:0001848
26227	PHGDH	Microphthalmia	HP:0000568
26227	PHGDH	Macrogyria	HP:0007227
26227	PHGDH	Lissencephaly	HP:0001339
26227	PHGDH	Hypertelorism	HP:0000316
26227	PHGDH	Ambiguous genitalia	HP:0000062
26227	PHGDH	Muscle spasm	HP:0003394
26227	PHGDH	Atonic seizures	HP:0010819
26227	PHGDH	Gelastic seizures	HP:0010821
26227	PHGDH	Lack of skin elasticity	HP:0100679
26227	PHGDH	Ventriculomegaly	HP:0002119
26227	PHGDH	Absence seizure	HP:0002121
26227	PHGDH	Generalized myoclonic seizures	HP:0002123
26227	PHGDH	Polymicrogyria	HP:0002126
26227	PHGDH	Moderate global developmental delay	HP:0011343
26227	PHGDH	Generalized ichthyosis	HP:0007503
26227	PHGDH	Severe global developmental delay	HP:0011344
26227	PHGDH	Thrombocytopenia	HP:0001873
26227	PHGDH	Sloping forehead	HP:0000340
26227	PHGDH	Epileptic spasms	HP:0011097
26227	PHGDH	Scoliosis	HP:0002650
26227	PHGDH	Micrognathia	HP:0000347
26227	PHGDH	Ventricular septal defect	HP:0001629
26227	PHGDH	Cerebral visual impairment	HP:0100704
26227	PHGDH	Megaloblastic anemia	HP:0001889
26227	PHGDH	Camptodactyly	HP:0012385
26227	PHGDH	Cerebral dysmyelination	HP:0007266
26227	PHGDH	Limb undergrowth	HP:0009826
26227	PHGDH	Yellow subcutaneous tissue covered by thin, scaly skin	HP:0007525
26227	PHGDH	Abnormal nasolacrimal system morphology	HP:0000614
26227	PHGDH	Renal agenesis	HP:0000104
26227	PHGDH	Patent ductus arteriosus	HP:0001643
26227	PHGDH	Spina bifida	HP:0002414
26227	PHGDH	Developmental stagnation	HP:0007281
26227	PHGDH	Patent foramen ovale	HP:0001655
26227	PHGDH	Small placenta	HP:0006266
26227	PHGDH	Nystagmus	HP:0000639
26227	PHGDH	Ichthyosis	HP:0008064
26227	PHGDH	Skeletal muscle atrophy	HP:0003202
26227	PHGDH	Opisthotonus	HP:0002179
26227	PHGDH	Clinodactyly	HP:0030084
26227	PHGDH	Transposition of the great arteries	HP:0001669
26227	PHGDH	Hypogonadism	HP:0000135
26227	PHGDH	Bifid uterus	HP:0000136
26227	PHGDH	Choroid plexus cyst	HP:0002190
26227	PHGDH	Macrotia	HP:0000400
26227	PHGDH	Large hands	HP:0001176
26227	PHGDH	Cerebral hypomyelination	HP:0006808
26227	PHGDH	Adducted thumb	HP:0001181
26227	PHGDH	Delayed myelination	HP:0012448
26227	PHGDH	Micromelia	HP:0002983
26227	PHGDH	External genital hypoplasia	HP:0003241
26227	PHGDH	Osteopenia	HP:0000938
26227	PHGDH	Osteoporosis	HP:0000939
26227	PHGDH	Short umbilical cord	HP:0001196
26227	PHGDH	Cleft palate	HP:0000175
26227	PHGDH	Submucous cleft hard palate	HP:0000176
26227	PHGDH	Thick lower lip vermilion	HP:0000179
26227	PHGDH	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
26227	PHGDH	Thick vermilion border	HP:0012471
26227	PHGDH	Congenital microcephaly	HP:0011451
26227	PHGDH	Rickets	HP:0002748
26227	PHGDH	Osteomalacia	HP:0002749
26227	PHGDH	Feeding difficulties	HP:0011968
26227	PHGDH	Bifid uvula	HP:0000193
26227	PHGDH	Depressed nasal ridge	HP:0000457
26227	PHGDH	Cleft upper lip	HP:0000204
26227	PHGDH	Spastic tetraplegia	HP:0002510
26227	PHGDH	Abnormal facial shape	HP:0001999
26227	PHGDH	Cerebral calcification	HP:0002514
26227	PHGDH	Trismus	HP:0000211
26227	PHGDH	Finger syndactyly	HP:0006101
26227	PHGDH	Short neck	HP:0000470
26227	PHGDH	Abnormality of cardiovascular system morphology	HP:0030680
26227	PHGDH	Cerebral hypoplasia	HP:0006872
26227	PHGDH	Ablepharon	HP:0011224
26227	PHGDH	Hypsarrhythmia	HP:0002521
26227	PHGDH	Cerebral white matter atrophy	HP:0012762
26227	PHGDH	Vomiting	HP:0002013
26227	PHGDH	Abnormality of hair texture	HP:0010719
26227	PHGDH	Irritability	HP:0000737
26227	PHGDH	Intellectual disability	HP:0001249
26227	PHGDH	Short stature	HP:0004322
26227	PHGDH	Seizures	HP:0001250
26227	PHGDH	Gastroesophageal reflux	HP:0002020
26227	PHGDH	Failure to thrive	HP:0001508
26227	PHGDH	Growth delay	HP:0001510
26227	PHGDH	Intrauterine growth retardation	HP:0001511
26227	PHGDH	Everted lower lip vermilion	HP:0000232
26227	PHGDH	Muscular dystrophy	HP:0003560
26227	PHGDH	Abnormal cortical gyration	HP:0002536
26227	PHGDH	Broad foot	HP:0001769
26227	PHGDH	Toe syndactyly	HP:0001770
26227	PHGDH	Stillbirth	HP:0003826
26227	PHGDH	Abnormal eyelash morphology	HP:0000499
26227	PHGDH	Arthrogryposis multiplex congenita	HP:0002804
26227	PHGDH	Hypoglycinemia	HP:0012277
26227	PHGDH	Hyposerinemia	HP:0012279
26227	PHGDH	Radial deviation of finger	HP:0009466
26227	PHGDH	Agenesis of corpus callosum	HP:0001274
26227	PHGDH	Microcephaly	HP:0000252
26229	B3GAT3	Pectus carinatum	HP:0000768
26229	B3GAT3	Narrow chest	HP:0000774
26229	B3GAT3	Amblyopia	HP:0000646
26229	B3GAT3	Autosomal recessive inheritance	HP:0000007
26229	B3GAT3	Congenital diaphragmatic hernia	HP:0000776
26229	B3GAT3	Generalized hypotonia	HP:0001290
26229	B3GAT3	Hip dislocation	HP:0002827
26229	B3GAT3	Prominent antitragus	HP:0008593
26229	B3GAT3	Small face	HP:0000274
26229	B3GAT3	Inguinal hernia	HP:0000023
26229	B3GAT3	Midface retrusion	HP:0011800
26229	B3GAT3	Broad distal phalanges of all fingers	HP:0009880
26229	B3GAT3	Hypermetropia	HP:0000540
26229	B3GAT3	Bilateral elbow dislocations	HP:0005021
26229	B3GAT3	Radioulnar synostosis	HP:0002974
26229	B3GAT3	Depressed nasal bridge	HP:0005280
26229	B3GAT3	Narrow mouth	HP:0000160
26229	B3GAT3	Genu valgum	HP:0002857
26229	B3GAT3	Osteopenia	HP:0000938
26229	B3GAT3	Osteoporosis	HP:0000939
26229	B3GAT3	Elbow flexion contracture	HP:0002987
26229	B3GAT3	Cleft palate	HP:0000175
26229	B3GAT3	Left ventricular hypertrophy	HP:0001712
26229	B3GAT3	Metatarsus adductus	HP:0001840
26229	B3GAT3	Microdontia	HP:0000691
26229	B3GAT3	Microretrognathia	HP:0000308
26229	B3GAT3	Esotropia	HP:0000565
26229	B3GAT3	Aortic root aneurysm	HP:0002616
26229	B3GAT3	Sandal gap	HP:0001852
26229	B3GAT3	Hypertelorism	HP:0000316
26229	B3GAT3	Thick eyebrow	HP:0000574
26229	B3GAT3	Delayed skeletal maturation	HP:0002750
26229	B3GAT3	Multiple joint dislocation	HP:0012095
26229	B3GAT3	Developmental glaucoma	HP:0001087
26229	B3GAT3	Abnormally large globe	HP:0001090
26229	B3GAT3	Recurrent fractures	HP:0002757
26229	B3GAT3	Spatulate thumbs	HP:0001222
26229	B3GAT3	Rhizomelia	HP:0008905
26229	B3GAT3	Abnormality of the abdominal wall	HP:0004298
26229	B3GAT3	Cutis laxa	HP:0000973
26229	B3GAT3	Hyperextensible skin	HP:0000974
26229	B3GAT3	Blue sclerae	HP:0000592
26229	B3GAT3	Flat face	HP:0012368
26229	B3GAT3	Webbed neck	HP:0000465
26229	B3GAT3	Metacarpophalangeal joint hyperextensibility	HP:0006099
26229	B3GAT3	Prominent forehead	HP:0011220
26229	B3GAT3	Short neck	HP:0000470
26229	B3GAT3	Frontal bossing	HP:0002007
26229	B3GAT3	Scoliosis	HP:0002650
26229	B3GAT3	Generalized osteoporosis	HP:0040160
26229	B3GAT3	Short stature	HP:0004322
26229	B3GAT3	Mitral valve prolapse	HP:0001634
26229	B3GAT3	Talipes equinovarus	HP:0001762
26229	B3GAT3	Pes planus	HP:0001763
26229	B3GAT3	Muscular hypotonia	HP:0001252
26229	B3GAT3	Microtia	HP:0008551
26229	B3GAT3	Cardiomegaly	HP:0001640
26229	B3GAT3	Enlarged metaphyses	HP:0003051
26229	B3GAT3	Joint laxity	HP:0001388
26229	B3GAT3	Talipes equinovalgus	HP:0001772
26229	B3GAT3	Downslanted palpebral fissures	HP:0000494
26229	B3GAT3	11 pairs of ribs	HP:0000878
26229	B3GAT3	Hydrocephalus	HP:0000238
26229	B3GAT3	Bicuspid aortic valve	HP:0001647
26229	B3GAT3	Accelerated skeletal maturation	HP:0005616
26229	B3GAT3	Knee dislocation	HP:0004976
26229	B3GAT3	Low-set ears	HP:0000369
26229	B3GAT3	Low posterior hairline	HP:0002162
26229	B3GAT3	Motor delay	HP:0001270
26229	B3GAT3	Patent foramen ovale	HP:0001655
26229	B3GAT3	Brachycephaly	HP:0000248
26229	B3GAT3	Shoulder dislocation	HP:0003834
1654	DDX3X	Ventriculomegaly	HP:0002119
1654	DDX3X	Infantile onset	HP:0003593
1654	DDX3X	Generalized hypotonia	HP:0001290
1654	DDX3X	Oral cleft	HP:0000202
1654	DDX3X	X-linked recessive inheritance	HP:0001419
1654	DDX3X	Cleft upper lip	HP:0000204
1654	DDX3X	Aggressive behavior	HP:0000718
1654	DDX3X	Abnormal facial shape	HP:0001999
1654	DDX3X	X-linked dominant inheritance	HP:0001423
1654	DDX3X	Broad-based gait	HP:0002136
1654	DDX3X	Autistic behavior	HP:0000729
1654	DDX3X	Scoliosis	HP:0002650
1654	DDX3X	Hypoplasia of the corpus callosum	HP:0002079
1654	DDX3X	Intellectual disability	HP:0001249
1654	DDX3X	Seizures	HP:0001250
1654	DDX3X	Decreased body weight	HP:0004325
1654	DDX3X	Abnormality of skin pigmentation	HP:0001000
1654	DDX3X	Spasticity	HP:0001257
1654	DDX3X	Cortical dysplasia	HP:0002539
1654	DDX3X	Joint laxity	HP:0001388
1654	DDX3X	Hearing impairment	HP:0000365
1654	DDX3X	Cleft palate	HP:0000175
1654	DDX3X	Global developmental delay	HP:0001263
1654	DDX3X	Hyperactivity	HP:0000752
1654	DDX3X	Dyskinesia	HP:0100660
1654	DDX3X	Visual impairment	HP:0000505
1654	DDX3X	Precocious puberty	HP:0000826
1654	DDX3X	Microcephaly	HP:0000252
26235	FBXL4	Skeletal muscle atrophy	HP:0003202
26235	FBXL4	Cataract	HP:0000518
26235	FBXL4	Autosomal recessive inheritance	HP:0000007
26235	FBXL4	Generalized hypotonia	HP:0001290
26235	FBXL4	Cerebral atrophy	HP:0002059
26235	FBXL4	Plagiocephaly	HP:0001357
26235	FBXL4	Encephalopathy	HP:0001298
26235	FBXL4	Narrow face	HP:0000275
26235	FBXL4	Neutropenia	HP:0001875
26235	FBXL4	Hyperalaninemia	HP:0003348
26235	FBXL4	Scoliosis	HP:0002650
26235	FBXL4	Protruding ear	HP:0000411
26235	FBXL4	Arrhythmia	HP:0011675
26235	FBXL4	Renal tubular acidosis	HP:0001947
26235	FBXL4	Epicanthus	HP:0000286
26235	FBXL4	Elevated hepatic transaminase	HP:0002910
26235	FBXL4	Dysphagia	HP:0002015
26235	FBXL4	Recurrent infections	HP:0002719
26235	FBXL4	Hypoplasia of the corpus callosum	HP:0002079
26235	FBXL4	Delayed myelination	HP:0012448
26235	FBXL4	Seizures	HP:0001250
26235	FBXL4	Ataxia	HP:0001251
26235	FBXL4	Failure to thrive	HP:0001508
26235	FBXL4	Gastroesophageal reflux	HP:0002020
26235	FBXL4	Growth delay	HP:0001510
26235	FBXL4	Increased serum lactate	HP:0002151
26235	FBXL4	Hypertrophic cardiomyopathy	HP:0001639
26235	FBXL4	Everted lower lip vermilion	HP:0000232
26235	FBXL4	Short foot	HP:0001773
26235	FBXL4	Downslanted palpebral fissures	HP:0000494
26235	FBXL4	Small for gestational age	HP:0001518
26235	FBXL4	Leukodystrophy	HP:0002415
26235	FBXL4	Hypospadias	HP:0000047
26235	FBXL4	Global developmental delay	HP:0001263
26235	FBXL4	Concave nasal ridge	HP:0011120
26235	FBXL4	Choreoathetosis	HP:0001266
26235	FBXL4	Dystonia	HP:0001332
26235	FBXL4	Cerebellar atrophy	HP:0001272
26235	FBXL4	Lactic acidosis	HP:0003128
26235	FBXL4	Microcephaly	HP:0000252
26235	FBXL4	Mitochondrial respiratory chain defects	HP:0200125
26235	FBXL4	Thick eyebrow	HP:0000574
26235	FBXL4	Nystagmus	HP:0000639
9851	KIAA0753	Central Y-shaped metacarpal	HP:0006145
9851	KIAA0753	Brachydactyly	HP:0001156
9851	KIAA0753	Autosomal recessive inheritance	HP:0000007
9851	KIAA0753	Syndactyly	HP:0001159
9851	KIAA0753	Gait disturbance	HP:0001288
9851	KIAA0753	Hand polydactyly	HP:0001161
9851	KIAA0753	Generalized hypotonia	HP:0001290
9851	KIAA0753	Hypothalamic hamartoma	HP:0002444
9851	KIAA0753	Long face	HP:0000276
9851	KIAA0753	Conductive hearing impairment	HP:0000405
9851	KIAA0753	Hamartoma of tongue	HP:0011802
9851	KIAA0753	Epicanthus	HP:0000286
9851	KIAA0753	Preaxial polydactyly	HP:0100258
9851	KIAA0753	Foot polydactyly	HP:0001829
9851	KIAA0753	Mesoaxial polydactyly	HP:0100260
9851	KIAA0753	Feeding difficulties in infancy	HP:0008872
9851	KIAA0753	Cerebellar vermis hypoplasia	HP:0001320
9851	KIAA0753	Prominent nasal bridge	HP:0000426
9851	KIAA0753	Wide nasal bridge	HP:0000431
9851	KIAA0753	Cleft palate	HP:0000175
9851	KIAA0753	Lobulated tongue	HP:0000180
9851	KIAA0753	Esotropia	HP:0000565
9851	KIAA0753	Apnea	HP:0002104
9851	KIAA0753	Tremor	HP:0001337
9851	KIAA0753	Hypertelorism	HP:0000316
9851	KIAA0753	Episodic tachypnea	HP:0002876
9851	KIAA0753	Abnormal oral frenulum morphology	HP:0000190
9851	KIAA0753	Biparietal narrowing	HP:0004422
9851	KIAA0753	Broad hallux	HP:0010055
9851	KIAA0753	Ventriculomegaly	HP:0002119
9851	KIAA0753	Tongue nodules	HP:0000199
9851	KIAA0753	Broad nasal tip	HP:0000455
9851	KIAA0753	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
9851	KIAA0753	Anteverted nares	HP:0000463
9851	KIAA0753	Flat face	HP:0012368
9851	KIAA0753	Finger clinodactyly	HP:0040019
9851	KIAA0753	Frontal bossing	HP:0002007
9851	KIAA0753	High palate	HP:0000218
9851	KIAA0753	Micrognathia	HP:0000347
9851	KIAA0753	Abnormal heart morphology	HP:0001627
9851	KIAA0753	Abnormality of neuronal migration	HP:0002269
9851	KIAA0753	Intellectual disability	HP:0001249
9851	KIAA0753	Seizures	HP:0001250
9851	KIAA0753	Short stature	HP:0004322
9851	KIAA0753	Ataxia	HP:0001251
9851	KIAA0753	Failure to thrive	HP:0001508
9851	KIAA0753	Renal agenesis	HP:0000104
9851	KIAA0753	Global developmental delay	HP:0001263
9851	KIAA0753	Low-set, posteriorly rotated ears	HP:0000368
9851	KIAA0753	Bilateral cryptorchidism	HP:0008689
9851	KIAA0753	Molar tooth sign on MRI	HP:0002419
9851	KIAA0753	Highly arched eyebrow	HP:0002553
9851	KIAA0753	Agenesis of corpus callosum	HP:0001274
9851	KIAA0753	Midline notch of upper alveolar ridge	HP:0009084
9851	KIAA0753	Hypoplasia of olfactory tract	HP:0007036
9851	KIAA0753	Nystagmus	HP:0000639
9853	RUSC2	Delayed ability to walk	HP:0031936
9853	RUSC2	Prominent nose	HP:0000448
9853	RUSC2	Hyperreflexia	HP:0001347
9853	RUSC2	Autosomal recessive inheritance	HP:0000007
9853	RUSC2	Infantile onset	HP:0003593
9853	RUSC2	Aggressive behavior	HP:0000718
9853	RUSC2	Long eyelashes	HP:0000527
9853	RUSC2	Long face	HP:0000276
9853	RUSC2	Synophrys	HP:0000664
9853	RUSC2	Tapered finger	HP:0001182
9853	RUSC2	Bulbous nose	HP:0000414
9853	RUSC2	Babinski sign	HP:0003487
9853	RUSC2	Hypoplasia of the corpus callosum	HP:0002079
9853	RUSC2	Intellectual disability	HP:0001249
9853	RUSC2	Pes cavus	HP:0001761
9853	RUSC2	Talipes equinovarus	HP:0001762
9853	RUSC2	Posteriorly rotated ears	HP:0000358
9853	RUSC2	Muscular hypotonia of the trunk	HP:0008936
9853	RUSC2	Spasticity	HP:0001257
9853	RUSC2	Postnatal microcephaly	HP:0005484
9853	RUSC2	Delayed speech and language development	HP:0000750
9853	RUSC2	Global developmental delay	HP:0001263
9853	RUSC2	Mandibular prognathia	HP:0000303
9853	RUSC2	Hyperactivity	HP:0000752
9853	RUSC2	Low-set ears	HP:0000369
9853	RUSC2	EEG abnormality	HP:0002353
9853	RUSC2	Highly arched eyebrow	HP:0002553
9853	RUSC2	Hypertelorism	HP:0000316
9853	RUSC2	Thick eyebrow	HP:0000574
9853	RUSC2	Decreased muscle mass	HP:0003199
50814	NSDHL	Umbilical hernia	HP:0001537
50814	NSDHL	Short ribs	HP:0000773
50814	NSDHL	Elevated 8-dehydrocholesterol	HP:0003462
50814	NSDHL	Abnormal cardiac septum morphology	HP:0001671
50814	NSDHL	Congenital ichthyosiform erythroderma	HP:0007431
50814	NSDHL	Hypoplastic pelvis	HP:0008839
50814	NSDHL	Elevated 8(9)-cholestenol	HP:0003465
50814	NSDHL	Generalized hypotonia	HP:0001290
50814	NSDHL	X-linked recessive inheritance	HP:0001419
50814	NSDHL	Parakeratosis	HP:0001036
50814	NSDHL	X-linked dominant inheritance	HP:0001423
50814	NSDHL	Malar flattening	HP:0000272
50814	NSDHL	Heterogeneous	HP:0001425
50814	NSDHL	Narrow face	HP:0000275
50814	NSDHL	Long face	HP:0000276
50814	NSDHL	Retrognathia	HP:0000278
50814	NSDHL	Pachygyria	HP:0001302
50814	NSDHL	Epicanthus	HP:0000286
50814	NSDHL	Erythema	HP:0010783
50814	NSDHL	Epiphyseal stippling	HP:0010655
50814	NSDHL	Abnormal cortical bone morphology	HP:0003103
50814	NSDHL	Aplasia/Hypoplasia involving the central nervous system	HP:0002977
50814	NSDHL	Abnormal digit morphology	HP:0011297
50814	NSDHL	Dental crowding	HP:0000678
50814	NSDHL	Pulmonary hypoplasia	HP:0002089
50814	NSDHL	Prominent nasal bridge	HP:0000426
50814	NSDHL	Mild intrauterine growth retardation	HP:0008883
50814	NSDHL	Sleep disturbance	HP:0002360
50814	NSDHL	Alopecia	HP:0001596
50814	NSDHL	Abnormality of the nail	HP:0001597
50814	NSDHL	Hyperkeratosis	HP:0000962
50814	NSDHL	Almond-shaped palpebral fissure	HP:0007874
50814	NSDHL	Adrenal hypoplasia	HP:0000835
50814	NSDHL	Upslanted palpebral fissure	HP:0000582
50814	NSDHL	Cleft upper lip	HP:0000204
50814	NSDHL	Polymicrogyria	HP:0002126
50814	NSDHL	Aggressive behavior	HP:0000718
50814	NSDHL	Single ventricle	HP:0001750
50814	NSDHL	Aplasia/hypoplasia of the extremities	HP:0009815
50814	NSDHL	Abnormality of cardiovascular system morphology	HP:0030680
50814	NSDHL	Scoliosis	HP:0002650
50814	NSDHL	High palate	HP:0000218
50814	NSDHL	Flexion contracture	HP:0001371
50814	NSDHL	Micrognathia	HP:0000347
50814	NSDHL	Congenital hip dislocation	HP:0001374
50814	NSDHL	Vertebral hypoplasia	HP:0008417
50814	NSDHL	Intellectual disability	HP:0001249
50814	NSDHL	Irritability	HP:0000737
50814	NSDHL	Short stature	HP:0004322
50814	NSDHL	Seizures	HP:0001250
50814	NSDHL	Renal hypoplasia/aplasia	HP:0008678
50814	NSDHL	Thyroid hypoplasia	HP:0005990
50814	NSDHL	Joint hypermobility	HP:0001382
50814	NSDHL	Strabismus	HP:0000486
50814	NSDHL	Posteriorly rotated ears	HP:0000358
50814	NSDHL	Intellectual disability, mild	HP:0001256
50814	NSDHL	Renal agenesis	HP:0000104
50814	NSDHL	Hyperlordosis	HP:0003307
50814	NSDHL	Hearing impairment	HP:0000365
50814	NSDHL	Delayed speech and language development	HP:0000750
50814	NSDHL	Global developmental delay	HP:0001263
50814	NSDHL	Hyperactivity	HP:0000752
50814	NSDHL	Hypoplastic scapulae	HP:0000882
50814	NSDHL	Stillbirth	HP:0003826
50814	NSDHL	Kyphosis	HP:0002808
50814	NSDHL	Microcephaly	HP:0000252
50814	NSDHL	Slender build	HP:0001533
50814	NSDHL	Short clavicles	HP:0000894
50814	NSDHL	Hydronephrosis	HP:0000126
1663	DDX11	Intellectual disability	HP:0001249
1663	DDX11	Tetralogy of Fallot	HP:0001636
1663	DDX11	Clinodactyly	HP:0030084
1663	DDX11	Cutis marmorata	HP:0000965
1663	DDX11	Autosomal recessive inheritance	HP:0000007
1663	DDX11	Intrauterine growth retardation	HP:0001511
1663	DDX11	Generalized hypotonia	HP:0001290
1663	DDX11	Hypoplasia of the cochlea	HP:0008586
1663	DDX11	Psychomotor retardation	HP:0025356
1663	DDX11	Optic nerve coloboma	HP:0000588
1663	DDX11	Hearing impairment	HP:0000365
1663	DDX11	Global developmental delay	HP:0001263
1663	DDX11	Small face	HP:0000274
1663	DDX11	2-3 toe syndactyly	HP:0004691
1663	DDX11	Sloping forehead	HP:0000340
1663	DDX11	Cupped ear	HP:0000378
1663	DDX11	Single transverse palmar crease	HP:0000954
1663	DDX11	High palate	HP:0000218
1663	DDX11	Wide mouth	HP:0000154
1663	DDX11	Microcephaly	HP:0000252
1663	DDX11	Ventricular septal defect	HP:0001629
1663	DDX11	Epicanthus	HP:0000286
9860	LRIG2	Constipation	HP:0002019
9860	LRIG2	Enuresis	HP:0000805
9860	LRIG2	Autosomal recessive inheritance	HP:0000007
9860	LRIG2	Polydipsia	HP:0001959
9860	LRIG2	Recurrent urinary tract infections	HP:0000010
9860	LRIG2	Urinary urgency	HP:0000012
9860	LRIG2	Vesicoureteral reflux	HP:0000076
9860	LRIG2	Bowel incontinence	HP:0002607
9860	LRIG2	Renal insufficiency	HP:0000083
9860	LRIG2	Urinary incontinence	HP:0000020
9860	LRIG2	Hypertension	HP:0000822
9860	LRIG2	Cryptorchidism	HP:0000028
9860	LRIG2	Urethral obstruction	HP:0000796
9860	LRIG2	Hydronephrosis	HP:0000126
9863	MAGI2	Hypoalbuminemia	HP:0003073
9863	MAGI2	Minimal change glomerulonephritis	HP:0012579
9863	MAGI2	Nephrotic syndrome	HP:0000100
9863	MAGI2	Proteinuria	HP:0000093
9863	MAGI2	Stage 5 chronic kidney disease	HP:0003774
26249	KLHL3	Pseudohypoaldosteronism	HP:0008242
26249	KLHL3	Autosomal dominant inheritance	HP:0000006
26249	KLHL3	Hypertension	HP:0000822
26249	KLHL3	Hyperchloremic metabolic acidosis	HP:0004918
26249	KLHL3	Autosomal recessive inheritance	HP:0000007
26249	KLHL3	Hyperkalemia	HP:0002153
26249	KLHL3	Hyperchloremia	HP:0011423
1674	DES	EMG abnormality	HP:0003457
1674	DES	EMG: myopathic abnormalities	HP:0003458
1674	DES	Foot dorsiflexor weakness	HP:0009027
1674	DES	Bulbar palsy	HP:0001283
1674	DES	Facial palsy	HP:0010628
1674	DES	Autosomal dominant inheritance	HP:0000006
1674	DES	Autosomal recessive inheritance	HP:0000007
1674	DES	Shoulder girdle muscle atrophy	HP:0003724
1674	DES	Right ventricular cardiomyopathy	HP:0011663
1674	DES	Reduced systolic function	HP:0006673
1674	DES	Abnormality of neutrophils	HP:0001874
1674	DES	Neck muscle weakness	HP:0000467
1674	DES	Palmoplantar keratoderma	HP:0000982
1674	DES	Sensorineural hearing impairment	HP:0000407
1674	DES	Peroneal muscle atrophy	HP:0009049
1674	DES	Distal muscle weakness	HP:0002460
1674	DES	Diarrhea	HP:0002014
1674	DES	Talipes equinovarus	HP:0001762
1674	DES	Lipoatrophy	HP:0100578
1674	DES	Constipation	HP:0002019
1674	DES	Congestive heart failure	HP:0001635
1674	DES	Elevated serum creatine kinase	HP:0003236
1674	DES	Phenotypic variability	HP:0003812
1674	DES	Hypertrophic cardiomyopathy	HP:0001639
1674	DES	Hyporeflexia of lower limbs	HP:0002600
1674	DES	Dilated cardiomyopathy	HP:0001644
1674	DES	Third degree atrioventricular block	HP:0001709
1674	DES	Late-onset proximal muscle weakness	HP:0003694
1674	DES	Scapuloperoneal weakness	HP:0003704
1674	DES	Respiratory insufficiency due to muscle weakness	HP:0002747
1674	DES	Restrictive cardiomyopathy	HP:0001723
1674	DES	Myopathy	HP:0003198
1674	DES	Bradycardia	HP:0001662
1675	CFD	Variable expressivity	HP:0003828
1675	CFD	Autosomal recessive inheritance	HP:0000007
1675	CFD	Recurrent bacterial infections	HP:0002718
1675	CFD	Complement deficiency	HP:0004431
1678	TIMM8A	Abnormal electroretinogram	HP:0000512
1678	TIMM8A	Cerebral visual impairment	HP:0100704
1678	TIMM8A	Myopia	HP:0000545
1678	TIMM8A	Hyperreflexia	HP:0001347
1678	TIMM8A	Increased susceptibility to fractures	HP:0002659
1678	TIMM8A	Photophobia	HP:0000613
1678	TIMM8A	Abnormal posturing	HP:0002533
1678	TIMM8A	Childhood onset	HP:0011463
1678	TIMM8A	Spasticity	HP:0001257
1678	TIMM8A	X-linked recessive inheritance	HP:0001419
1678	TIMM8A	Dysarthria	HP:0001260
1678	TIMM8A	Constriction of peripheral visual field	HP:0001133
1678	TIMM8A	Reduced visual acuity	HP:0007663
1678	TIMM8A	Postlingual sensorineural hearing impairment	HP:0008596
1678	TIMM8A	Mental deterioration	HP:0001268
1678	TIMM8A	Dystonia	HP:0001332
1678	TIMM8A	Progressive sensorineural hearing impairment	HP:0000408
1678	TIMM8A	Tremor	HP:0001337
1678	TIMM8A	Visual impairment	HP:0000505
1678	TIMM8A	Dysphagia	HP:0002015
9871	SEC24D	Macrocephaly	HP:0000256
9871	SEC24D	Postnatal growth retardation	HP:0008897
9871	SEC24D	Abnormality of the ribs	HP:0000772
9871	SEC24D	Recurrent fractures	HP:0002757
9871	SEC24D	Triangular face	HP:0000325
9871	SEC24D	Turricephaly	HP:0000262
9871	SEC24D	Autosomal recessive inheritance	HP:0000007
9871	SEC24D	Abnormality of the voice	HP:0001608
9871	SEC24D	Proptosis	HP:0000520
9871	SEC24D	Blue sclerae	HP:0000592
9871	SEC24D	High pitched voice	HP:0001620
9871	SEC24D	Wormian bones	HP:0002645
9871	SEC24D	Frontal bossing	HP:0002007
9871	SEC24D	Bowing of the long bones	HP:0006487
9871	SEC24D	Midface retrusion	HP:0011800
9871	SEC24D	Coronal craniosynostosis	HP:0004440
9871	SEC24D	Scoliosis	HP:0002650
9871	SEC24D	Oligohydramnios	HP:0001562
9871	SEC24D	High palate	HP:0000218
9871	SEC24D	Micrognathia	HP:0000347
9871	SEC24D	Lambdoidal craniosynostosis	HP:0004443
9871	SEC24D	Skeletal dysplasia	HP:0002652
9871	SEC24D	Platyspondyly	HP:0000926
9871	SEC24D	Crumpled long bones	HP:0006367
9871	SEC24D	Short stature	HP:0004322
9871	SEC24D	Muscular hypotonia	HP:0001252
9871	SEC24D	Intrauterine growth retardation	HP:0001511
9871	SEC24D	Abnormality of dental enamel	HP:0000682
9871	SEC24D	Osteopenia	HP:0000938
9871	SEC24D	Delayed eruption of teeth	HP:0000684
9871	SEC24D	Downslanted palpebral fissures	HP:0000494
9871	SEC24D	Hydrocephalus	HP:0000238
9871	SEC24D	Global developmental delay	HP:0001263
9871	SEC24D	Abnormality of the metaphysis	HP:0000944
9871	SEC24D	Abnormal form of the vertebral bodies	HP:0003312
9871	SEC24D	Thin ribs	HP:0000883
9871	SEC24D	Microretrognathia	HP:0000308
9871	SEC24D	Narrow iliac wings	HP:0002868
9871	SEC24D	Communicating hydrocephalus	HP:0001334
9871	SEC24D	Kyphosis	HP:0002808
9871	SEC24D	Joint hyperflexibility	HP:0005692
9871	SEC24D	Hypertelorism	HP:0000316
9871	SEC24D	Pectus excavatum	HP:0000767
116369	SLC26A8	Infertility	HP:0000789
116369	SLC26A8	Autosomal dominant inheritance	HP:0000006
26258	BLOC1S6	Thrombocytopenia	HP:0001873
26258	BLOC1S6	Hypopigmentation of the skin	HP:0001010
26258	BLOC1S6	Ocular albinism	HP:0001107
26258	BLOC1S6	Hypopigmentation of the fundus	HP:0007894
26258	BLOC1S6	Congenital nystagmus	HP:0006934
26258	BLOC1S6	Autosomal recessive inheritance	HP:0000007
26258	BLOC1S6	Leukopenia	HP:0001882
83605	CCM2	Choroidal hemangioma	HP:0007872
83605	CCM2	Seizures	HP:0001250
83605	CCM2	Autosomal dominant inheritance	HP:0000006
83605	CCM2	Meningioma	HP:0002858
83605	CCM2	Headache	HP:0002315
83605	CCM2	Vascular skin abnormality	HP:0011276
83605	CCM2	Episodic vomiting	HP:0002572
83605	CCM2	Focal T2 hyperintense brainstem lesion	HP:0012748
83605	CCM2	Focal T2 hypointense brainstem lesion	HP:0012749
83605	CCM2	Spinal cord lesion	HP:0100561
83605	CCM2	Venous malformation	HP:0012721
83605	CCM2	Heterogeneous	HP:0001425
83605	CCM2	Stroke	HP:0001297
83605	CCM2	Telangiectasia	HP:0001009
83605	CCM2	Increased intracranial pressure	HP:0002516
83605	CCM2	Retinal cavernous angioma	HP:0011513
83605	CCM2	Scoliosis	HP:0002650
83605	CCM2	Cognitive impairment	HP:0100543
83605	CCM2	Cerebral hemorrhage	HP:0001342
83605	CCM2	Neuroma	HP:0030430
1687	GSDME	Autosomal dominant inheritance	HP:0000006
1687	GSDME	Progressive sensorineural hearing impairment	HP:0000408
1690	COCH	Vertigo	HP:0002321
1690	COCH	Postlingual sensorineural hearing impairment	HP:0008596
1690	COCH	Autosomal dominant inheritance	HP:0000006
1690	COCH	Young adult onset	HP:0011462
1690	COCH	Sensorineural hearing impairment	HP:0000407
1690	COCH	Autosomal recessive inheritance	HP:0000007
1690	COCH	Vestibular dysfunction	HP:0001751
1690	COCH	Abnormality of the vestibulocochlear nerve	HP:0009591
1690	COCH	Tinnitus	HP:0000360
1690	COCH	Progressive	HP:0003676
1690	COCH	Cochlear degeneration	HP:0005102
9885	OSBPL2	Autosomal dominant inheritance	HP:0000006
9885	OSBPL2	Sensorineural hearing impairment	HP:0000407
9885	OSBPL2	Tinnitus	HP:0000360
50846	DHH	Skeletal muscle atrophy	HP:0003202
50846	DHH	Gonadal dysgenesis	HP:0000133
50846	DHH	Increased circulating gonadotropin level	HP:0000837
50846	DHH	Autosomal recessive inheritance	HP:0000007
50846	DHH	Distal sensory loss of all modalities	HP:0006984
50846	DHH	Testicular dysgenesis	HP:0008715
50846	DHH	Hypoplasia of the uterus	HP:0000013
50846	DHH	Abnormal vagina morphology	HP:0000142
50846	DHH	Heterogeneous	HP:0001425
50846	DHH	Primary amenorrhea	HP:0000786
50846	DHH	Polycystic ovaries	HP:0000147
50846	DHH	Gonadal dysgenesis with female appearance, male	HP:0008723
50846	DHH	Sex reversal	HP:0012245
50846	DHH	Infertility	HP:0000789
50846	DHH	Gonadoblastoma	HP:0000150
50846	DHH	Decreased serum estradiol	HP:0008214
50846	DHH	Male hypogonadism	HP:0000026
50846	DHH	Gonadal dysgenesis, male	HP:0008668
50846	DHH	Distal muscle weakness	HP:0002460
50846	DHH	Streak ovary	HP:0010464
50846	DHH	Pes cavus	HP:0001761
50846	DHH	Reduced tendon reflexes	HP:0001315
50846	DHH	Male pseudohermaphroditism	HP:0000037
50846	DHH	Sensorimotor neuropathy	HP:0007141
50846	DHH	Sensory ataxic neuropathy	HP:0003434
50846	DHH	Decreased serum testosterone level	HP:0040171
50846	DHH	Hypogonadotrophic hypogonadism	HP:0000044
50846	DHH	Steppage gait	HP:0003376
50846	DHH	Abnormality of the epididymis	HP:0009714
50846	DHH	Decreased number of peripheral myelinated nerve fibers	HP:0003380
50846	DHH	Polyneuropathy	HP:0001271
50846	DHH	Abnormality of female external genitalia	HP:0000055
50846	DHH	Hypoplasia of the fallopian tube	HP:0008697
50846	DHH	Abnormal peripheral myelination	HP:0003130
50846	DHH	Abnormality of peripheral nerve conduction	HP:0003134
26275	HIBCH	Feeding difficulties	HP:0011968
26275	HIBCH	Seizures	HP:0001250
26275	HIBCH	Tetralogy of Fallot	HP:0001636
26275	HIBCH	Muscular hypotonia	HP:0001252
26275	HIBCH	Strabismus	HP:0000486
26275	HIBCH	Autosomal recessive inheritance	HP:0000007
26275	HIBCH	Developmental regression	HP:0002376
26275	HIBCH	Infantile onset	HP:0003593
26275	HIBCH	Generalized hypotonia	HP:0001290
26275	HIBCH	Abnormal vertebral morphology	HP:0003468
26275	HIBCH	Abnormal facial shape	HP:0001999
26275	HIBCH	Global developmental delay	HP:0001263
26275	HIBCH	Dystonia	HP:0001332
26275	HIBCH	Myoclonus	HP:0001336
26275	HIBCH	Agenesis of corpus callosum	HP:0001274
26275	HIBCH	Aminoaciduria	HP:0003355
26275	HIBCH	Abnormality of the vertebral column	HP:0000925
26275	HIBCH	Dysmetria	HP:0001310
26275	HIBCH	Epicanthus	HP:0000286
26275	HIBCH	Nystagmus	HP:0000639
26276	VPS33B	Ichthyosis	HP:0008064
26276	VPS33B	Right ventricular hypertrophy	HP:0001667
26276	VPS33B	Autosomal recessive inheritance	HP:0000007
26276	VPS33B	Generalized hypotonia	HP:0001290
26276	VPS33B	Nephrogenic diabetes insipidus	HP:0009806
26276	VPS33B	Sloping forehead	HP:0000340
26276	VPS33B	Metabolic acidosis	HP:0001942
26276	VPS33B	Giant cell hepatitis	HP:0200084
26276	VPS33B	Dehydration	HP:0001944
26276	VPS33B	Renal tubular acidosis	HP:0001947
26276	VPS33B	Micrognathia	HP:0000347
26276	VPS33B	Talipes calcaneovalgus	HP:0001884
26276	VPS33B	Conjugated hyperbilirubinemia	HP:0002908
26276	VPS33B	Ventricular septal defect	HP:0001629
26276	VPS33B	Elevated hepatic transaminase	HP:0002910
26276	VPS33B	Atrial septal defect	HP:0001631
26276	VPS33B	Muscular hypotonia	HP:0001252
26276	VPS33B	Failure to thrive	HP:0001508
26276	VPS33B	Abnormal bleeding	HP:0001892
26276	VPS33B	Hip dysplasia	HP:0001385
26276	VPS33B	Global developmental delay	HP:0001263
26276	VPS33B	Nephropathy	HP:0000112
26276	VPS33B	Low-set ears	HP:0000369
26276	VPS33B	Death in infancy	HP:0001522
26276	VPS33B	Cholestatic liver disease	HP:0002611
26276	VPS33B	Arthrogryposis multiplex congenita	HP:0002804
26276	VPS33B	Jaundice	HP:0000952
26276	VPS33B	Nephrocalcinosis	HP:0000121
26276	VPS33B	Lissencephaly	HP:0001339
26276	VPS33B	Microcephaly	HP:0000252
26277	TINF2	Reticulated skin pigmentation	HP:0007427
26277	TINF2	Autosomal dominant inheritance	HP:0000006
26277	TINF2	Cataract	HP:0000518
26277	TINF2	Abnormality of female internal genitalia	HP:0000008
26277	TINF2	Hypermelanotic macule	HP:0001034
26277	TINF2	Nail pits	HP:0001803
26277	TINF2	Psychomotor retardation	HP:0025356
26277	TINF2	Ridged nail	HP:0001807
26277	TINF2	Tracheoesophageal fistula	HP:0002575
26277	TINF2	Generalized hyperpigmentation	HP:0007440
26277	TINF2	Displacement of the urethral meatus	HP:0100627
26277	TINF2	Abnormal eyebrow morphology	HP:0000534
26277	TINF2	Cryptorchidism	HP:0000028
26277	TINF2	Hypopigmented skin patches	HP:0001053
26277	TINF2	Abnormal testis morphology	HP:0000035
26277	TINF2	Progressive neurologic deterioration	HP:0002344
26277	TINF2	Cerebellar hypoplasia	HP:0001321
26277	TINF2	Leukocoria	HP:0000555
26277	TINF2	Myelodysplasia	HP:0002863
26277	TINF2	Specific learning disability	HP:0001328
26277	TINF2	Diabetes mellitus	HP:0000819
26277	TINF2	Alopecia	HP:0001596
26277	TINF2	Rough bone trabeculation	HP:0100670
26277	TINF2	Ventriculomegaly	HP:0002119
26277	TINF2	Hypoplasia of the maxilla	HP:0000327
26277	TINF2	Cerebral cortical atrophy	HP:0002120
26277	TINF2	Neoplasm of the pancreas	HP:0002894
26277	TINF2	Premature loss of teeth	HP:0006480
26277	TINF2	Thrombocytopenia	HP:0001873
26277	TINF2	Abnormality of neutrophils	HP:0001874
26277	TINF2	Squamous cell carcinoma of the skin	HP:0006739
26277	TINF2	Abnormality of the pharynx	HP:0000600
26277	TINF2	Abnormal leukocyte morphology	HP:0001881
26277	TINF2	Leukopenia	HP:0001882
26277	TINF2	Scoliosis	HP:0002650
26277	TINF2	Generalized hypopigmentation of hair	HP:0011358
26277	TINF2	Lymphopenia	HP:0001888
26277	TINF2	White hair	HP:0011364
26277	TINF2	Skin vesicle	HP:0200037
26277	TINF2	Neoplasm	HP:0002664
26277	TINF2	Skin ulcer	HP:0200042
26277	TINF2	Lymphoma	HP:0002665
26277	TINF2	Hearing impairment	HP:0000365
26277	TINF2	Anemia	HP:0001903
26277	TINF2	Cirrhosis	HP:0001394
26277	TINF2	Interstitial pneumonitis	HP:0006515
26277	TINF2	Nail dysplasia	HP:0002164
26277	TINF2	Hepatic failure	HP:0001399
26277	TINF2	Aplastic anemia	HP:0001915
26277	TINF2	Nystagmus	HP:0000639
26277	TINF2	Aplastic/hypoplastic toenail	HP:0010624
26277	TINF2	Aplasia/Hypoplasia of the skin	HP:0008065
26277	TINF2	Abnormal blistering of the skin	HP:0008066
26277	TINF2	Avascular necrosis	HP:0010885
26277	TINF2	Sparse hair	HP:0008070
26277	TINF2	Abnormality of coagulation	HP:0001928
26277	TINF2	Abnormality of metabolism/homeostasis	HP:0001939
26277	TINF2	Bone marrow hypocellularity	HP:0005528
26277	TINF2	Hypodontia	HP:0000668
26277	TINF2	Recurrent respiratory infections	HP:0002205
26277	TINF2	Pulmonary fibrosis	HP:0002206
26277	TINF2	Carious teeth	HP:0000670
26277	TINF2	Immunodeficiency	HP:0002721
26277	TINF2	Sparse scalp hair	HP:0002209
26277	TINF2	Sporadic	HP:0003745
26277	TINF2	Reticular hyperpigmentation	HP:0007588
26277	TINF2	Fine hair	HP:0002213
26277	TINF2	Taurodontia	HP:0000679
26277	TINF2	Premature graying of hair	HP:0002216
26277	TINF2	Osteoporosis	HP:0000939
26277	TINF2	Oral leukoplakia	HP:0002745
26277	TINF2	Anorectal anomaly	HP:0012732
26277	TINF2	Dry skin	HP:0000958
26277	TINF2	Hepatomegaly	HP:0002240
26277	TINF2	Periodontitis	HP:0000704
26277	TINF2	Fine, reticulate skin pigmentation	HP:0007617
26277	TINF2	Recurrent fractures	HP:0002757
26277	TINF2	Epiphora	HP:0009926
26277	TINF2	Abnormal fingernail morphology	HP:0001231
26277	TINF2	Hyperhidrosis	HP:0000975
26277	TINF2	Splenomegaly	HP:0001744
26277	TINF2	Cerebral calcification	HP:0002514
26277	TINF2	Esophageal stenosis	HP:0010450
26277	TINF2	Ridged fingernail	HP:0008402
26277	TINF2	Nail dystrophy	HP:0008404
26277	TINF2	Urethral stenosis	HP:0008661
26277	TINF2	Palmoplantar keratoderma	HP:0000982
26277	TINF2	Exudative retinopathy	HP:0007898
26277	TINF2	Excessive wrinkled skin	HP:0007392
26277	TINF2	Intellectual disability	HP:0001249
26277	TINF2	Short stature	HP:0004322
26277	TINF2	Ataxia	HP:0001251
26277	TINF2	Failure to thrive	HP:0001508
26277	TINF2	Megalocornea	HP:0000485
26277	TINF2	Intrauterine growth retardation	HP:0001511
26277	TINF2	Retinopathy	HP:0000488
26277	TINF2	Malabsorption	HP:0002024
26277	TINF2	Telangiectasia of the skin	HP:0100585
26277	TINF2	Dermal atrophy	HP:0004334
26277	TINF2	Delayed speech and language development	HP:0000750
26277	TINF2	Global developmental delay	HP:0001263
26277	TINF2	Hyporeflexia	HP:0001265
26277	TINF2	Blepharitis	HP:0000498
26277	TINF2	Abnormal eyelash morphology	HP:0000499
26277	TINF2	Hypertonia	HP:0001276
26277	TINF2	Microcephaly	HP:0000252
26277	TINF2	Cellular immunodeficiency	HP:0005374
26278	SACS	Swan neck-like deformities of the fingers	HP:0006150
26278	SACS	Autosomal recessive inheritance	HP:0000007
26278	SACS	Infantile onset	HP:0003593
26278	SACS	Urinary urgency	HP:0000012
26278	SACS	Unsteady gait	HP:0002317
26278	SACS	Lower limb spasticity	HP:0002061
26278	SACS	Gait ataxia	HP:0002066
26278	SACS	Urinary incontinence	HP:0000020
26278	SACS	Progressive cerebellar ataxia	HP:0002073
26278	SACS	Abnormality of the cerebellar peduncle	HP:0011931
26278	SACS	Distal muscle weakness	HP:0002460
26278	SACS	Dysmetria	HP:0001310
26278	SACS	Babinski sign	HP:0003487
26278	SACS	Hypoplasia of the corpus callosum	HP:0002079
26278	SACS	Intention tremor	HP:0002080
26278	SACS	Impotence	HP:0000802
26278	SACS	Cerebellar vermis hypoplasia	HP:0001320
26278	SACS	Gaze-evoked horizontal nystagmus	HP:0007979
26278	SACS	Difficulty walking	HP:0002355
26278	SACS	Progressive truncal ataxia	HP:0007221
26278	SACS	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
26278	SACS	Impaired vibratory sensation	HP:0002495
26278	SACS	Abnormality of the pons	HP:0007361
26278	SACS	Spastic ataxia	HP:0002497
26278	SACS	Foot dorsiflexor weakness	HP:0009027
26278	SACS	Hyperreflexia	HP:0001347
26278	SACS	Behavioral abnormality	HP:0000708
26278	SACS	Demyelinating peripheral neuropathy	HP:0007108
26278	SACS	Cerebellar vermis atrophy	HP:0006855
26278	SACS	Parietal cortical atrophy	HP:0012104
26278	SACS	Progressive gait ataxia	HP:0007240
26278	SACS	Impaired tactile sensation	HP:0010830
26278	SACS	Loss of Purkinje cells in the cerebellar vermis	HP:0007001
26278	SACS	Impaired smooth pursuit	HP:0007772
26278	SACS	Dysphagia	HP:0002015
26278	SACS	Arachnoid cyst	HP:0100702
26278	SACS	Falls	HP:0002527
26278	SACS	Abnormal motor evoked potentials	HP:0012896
26278	SACS	Abnormality of the foot	HP:0001760
26278	SACS	Intellectual disability	HP:0001249
26278	SACS	Pes cavus	HP:0001761
26278	SACS	Mitral valve prolapse	HP:0001634
26278	SACS	Sensorimotor neuropathy	HP:0007141
26278	SACS	Hammertoe	HP:0001765
26278	SACS	Decreased motor nerve conduction velocity	HP:0003431
26278	SACS	Spasticity	HP:0001257
26278	SACS	Dysarthria	HP:0001260
26278	SACS	Distal amyotrophy	HP:0003693
26278	SACS	Absent Achilles reflex	HP:0003438
26278	SACS	Hypermyelinated retinal nerve fibers	HP:0007922
26278	SACS	Impaired vibration sensation in the lower limbs	HP:0002166
26278	SACS	Cerebellar atrophy	HP:0001272
26278	SACS	Scanning speech	HP:0002168
26278	SACS	Distal sensory impairment	HP:0002936
26278	SACS	Decreased sensory nerve conduction velocity	HP:0003448
26278	SACS	Nystagmus	HP:0000639
124583	CANT1	Genu recurvatum	HP:0002816
124583	CANT1	Short femoral neck	HP:0100864
124583	CANT1	Brachydactyly	HP:0001156
124583	CANT1	Narrow chest	HP:0000774
124583	CANT1	Autosomal recessive inheritance	HP:0000007
124583	CANT1	Proptosis	HP:0000520
124583	CANT1	Advanced ossification of carpal bones	HP:0004233
124583	CANT1	Generalized hypotonia	HP:0001290
124583	CANT1	Camptodactyly of finger	HP:0100490
124583	CANT1	Bifid distal phalanx of the thumb	HP:0009611
124583	CANT1	Malar flattening	HP:0000272
124583	CANT1	Medial deviation of the foot	HP:0008082
124583	CANT1	Midface retrusion	HP:0011800
124583	CANT1	Genu varum	HP:0002970
124583	CANT1	Broad femoral neck	HP:0006429
124583	CANT1	Platyspondyly	HP:0000926
124583	CANT1	Radioulnar synostosis	HP:0002974
124583	CANT1	Depressed nasal bridge	HP:0005280
124583	CANT1	Narrow mouth	HP:0000160
124583	CANT1	Myopia	HP:0000545
124583	CANT1	Radioulnar dislocation	HP:0006439
124583	CANT1	Disproportionate short-limb short stature	HP:0008873
124583	CANT1	Osteoporosis	HP:0000939
124583	CANT1	Advanced tarsal ossification	HP:0008108
124583	CANT1	Abnormality of the metaphysis	HP:0000944
124583	CANT1	Short 1st metacarpal	HP:0010034
124583	CANT1	Microretrognathia	HP:0000308
124583	CANT1	Severe short stature	HP:0003510
124583	CANT1	Patellar dislocation	HP:0002999
124583	CANT1	Bell-shaped thorax	HP:0001591
124583	CANT1	Round face	HP:0000311
124583	CANT1	Joint hyperflexibility	HP:0005692
124583	CANT1	Sandal gap	HP:0001852
124583	CANT1	Developmental glaucoma	HP:0001087
124583	CANT1	Osteoarthritis	HP:0002758
124583	CANT1	Metaphyseal widening	HP:0003016
124583	CANT1	Proximal fibular overgrowth	HP:0005067
124583	CANT1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
124583	CANT1	Anteverted nares	HP:0000463
124583	CANT1	Blue sclerae	HP:0000592
124583	CANT1	Waddling gait	HP:0002515
124583	CANT1	Broad first metatarsal	HP:0010068
124583	CANT1	Short neck	HP:0000470
124583	CANT1	Small epiphyses	HP:0010585
124583	CANT1	Scoliosis	HP:0002650
124583	CANT1	Ventricular septal defect	HP:0001629
124583	CANT1	Epiphyseal dysplasia	HP:0002656
124583	CANT1	Intellectual disability	HP:0001249
124583	CANT1	Elbow dislocation	HP:0003042
124583	CANT1	Talipes equinovarus	HP:0001762
124583	CANT1	Pes planus	HP:0001763
124583	CANT1	Phalangeal dislocation	HP:0006243
124583	CANT1	Muscular hypotonia	HP:0001252
124583	CANT1	Obesity	HP:0001513
124583	CANT1	Hyperlordosis	HP:0003307
124583	CANT1	Flat acetabular roof	HP:0003180
124583	CANT1	Joint laxity	HP:0001388
124583	CANT1	Hypotrichosis	HP:0001006
124583	CANT1	Accelerated skeletal maturation	HP:0005616
124583	CANT1	Low-set, posteriorly rotated ears	HP:0000368
124583	CANT1	Clinodactyly of the 5th finger	HP:0004209
124583	CANT1	Coxa valga	HP:0002673
124583	CANT1	Partial duplication of the distal phalanx of the hallux	HP:0010097
124583	CANT1	Abnormal eyelash morphology	HP:0000499
124583	CANT1	Small hand	HP:0200055
124583	CANT1	Variable expressivity	HP:0003828
124583	CANT1	Glaucoma	HP:0000501
124583	CANT1	Motor delay	HP:0001270
124583	CANT1	Short metatarsal	HP:0010743
124583	CANT1	Kyphosis	HP:0002808
124583	CANT1	Coxa vara	HP:0002812
124583	CANT1	Short nose	HP:0003196
124583	CANT1	Flattened epiphysis	HP:0003071
9894	TELO2	Absent speech	HP:0001344
9894	TELO2	Cerebral visual impairment	HP:0100704
9894	TELO2	Ataxia	HP:0001251
9894	TELO2	Autosomal recessive inheritance	HP:0000007
9894	TELO2	Spasticity	HP:0001257
9894	TELO2	Generalized hypotonia	HP:0001290
9894	TELO2	Hearing impairment	HP:0000365
9894	TELO2	Global developmental delay	HP:0001263
9894	TELO2	Abnormality of movement	HP:0100022
9894	TELO2	Congenital onset	HP:0003577
9894	TELO2	Microcephaly	HP:0000252
9894	TELO2	Kyphoscoliosis	HP:0002751
9894	TELO2	Pectus excavatum	HP:0000767
9895	TECPR2	Areflexia	HP:0001284
9895	TECPR2	Autosomal recessive inheritance	HP:0000007
9895	TECPR2	Generalized hypotonia	HP:0001290
9895	TECPR2	Cerebral atrophy	HP:0002059
9895	TECPR2	Spastic gait	HP:0002064
9895	TECPR2	Hypomimic face	HP:0000338
9895	TECPR2	Gait ataxia	HP:0002066
9895	TECPR2	Short neck	HP:0000470
9895	TECPR2	Broad neck	HP:0000475
9895	TECPR2	Recurrent respiratory infections	HP:0002205
9895	TECPR2	Dysmetria	HP:0001310
9895	TECPR2	Hypoplasia of the corpus callosum	HP:0002079
9895	TECPR2	Intellectual disability	HP:0001249
9895	TECPR2	Short stature	HP:0004322
9895	TECPR2	Seizures	HP:0001250
9895	TECPR2	Gastroesophageal reflux	HP:0002020
9895	TECPR2	Full cheeks	HP:0000293
9895	TECPR2	Low anterior hairline	HP:0000294
9895	TECPR2	Dental crowding	HP:0000678
9895	TECPR2	Spastic paraplegia	HP:0001258
9895	TECPR2	Dysarthria	HP:0001260
9895	TECPR2	Global developmental delay	HP:0001263
9895	TECPR2	Central apnea	HP:0002871
9895	TECPR2	Round face	HP:0000311
9895	TECPR2	Brachycephaly	HP:0000248
9895	TECPR2	Cerebellar atrophy	HP:0001272
9895	TECPR2	Microcephaly	HP:0000252
9896	FIG4	Absent nipple	HP:0002561
9896	FIG4	Aplastic clavicle	HP:0006660
9896	FIG4	Areflexia	HP:0001284
9896	FIG4	Short ribs	HP:0000773
9896	FIG4	Autosomal dominant inheritance	HP:0000006
9896	FIG4	Cataract	HP:0000518
9896	FIG4	Abnormality of the occipital bone	HP:0012294
9896	FIG4	Autosomal recessive inheritance	HP:0000007
9896	FIG4	Proptosis	HP:0000520
9896	FIG4	Gait disturbance	HP:0001288
9896	FIG4	Narrow nasal base	HP:0012809
9896	FIG4	Generalized hypotonia	HP:0001290
9896	FIG4	Hip dislocation	HP:0002827
9896	FIG4	Dolichocephaly	HP:0000268
9896	FIG4	Abnormality of the scapula	HP:0000782
9896	FIG4	Peripheral hypomyelination	HP:0007182
9896	FIG4	Sparse eyebrow	HP:0045075
9896	FIG4	Pachygyria	HP:0001302
9896	FIG4	Sparse and thin eyebrow	HP:0000535
9896	FIG4	Polyhydramnios	HP:0001561
9896	FIG4	Delirium	HP:0031258
9896	FIG4	Cryptorchidism	HP:0000028
9896	FIG4	Short toe	HP:0001831
9896	FIG4	Cerebellar hypoplasia	HP:0001321
9896	FIG4	Wide cranial sutures	HP:0010537
9896	FIG4	Pulmonary arterial hypertension	HP:0002092
9896	FIG4	Tapered toe	HP:0011309
9896	FIG4	Rocker bottom foot	HP:0001838
9896	FIG4	Dyspnea	HP:0002094
9896	FIG4	Hypospadias	HP:0000047
9896	FIG4	Metatarsus adductus	HP:0001840
9896	FIG4	Absent thumb	HP:0009777
9896	FIG4	Aplasia of the 1st metacarpal	HP:0010035
9896	FIG4	Distal arthrogryposis	HP:0005684
9896	FIG4	Abnormality of dental structure	HP:0011061
9896	FIG4	Aplasia/Hypoplasia of the nipples	HP:0006709
9896	FIG4	Micropenis	HP:0000054
9896	FIG4	Aplasia/Hypoplasia of the clavicles	HP:0006710
9896	FIG4	Onion bulb formation	HP:0003383
9896	FIG4	Frequent falls	HP:0002359
9896	FIG4	Aplasia/Hypoplasia of the scapulae	HP:0006713
9896	FIG4	Hypoplastic labia majora	HP:0000059
9896	FIG4	Hypertelorism	HP:0000316
9896	FIG4	Respiratory failure	HP:0002878
9896	FIG4	Visual hallucinations	HP:0002367
9896	FIG4	Short philtrum	HP:0000322
9896	FIG4	Muscle spasm	HP:0003394
9896	FIG4	Ankle contracture	HP:0006466
9896	FIG4	Upslanted palpebral fissure	HP:0000582
9896	FIG4	Ventriculomegaly	HP:0002119
9896	FIG4	Short chin	HP:0000331
9896	FIG4	Polymicrogyria	HP:0002126
9896	FIG4	Abnormality of blood and blood-forming tissues	HP:0001871
9896	FIG4	Focal impaired awareness seizure	HP:0002384
9896	FIG4	Severe global developmental delay	HP:0011344
9896	FIG4	Laryngospasm	HP:0025425
9896	FIG4	Aplasia/hypoplasia of the 1st metatarsal	HP:0010067
9896	FIG4	Status epilepticus	HP:0002133
9896	FIG4	Premature birth	HP:0001622
9896	FIG4	Fatigue	HP:0012378
9896	FIG4	Arrhinencephaly	HP:0002139
9896	FIG4	Micrognathia	HP:0000347
9896	FIG4	High forehead	HP:0000348
9896	FIG4	Progressive	HP:0003676
9896	FIG4	Ventricular septal defect	HP:0001629
9896	FIG4	Atrial septal defect	HP:0001631
9896	FIG4	Gingival recession	HP:0030816
9896	FIG4	Tetralogy of Fallot	HP:0001636
9896	FIG4	Redundant neck skin	HP:0005989
9896	FIG4	Cardiomyopathy	HP:0001638
9896	FIG4	Decreased motor nerve conduction velocity	HP:0003431
9896	FIG4	Cardiomegaly	HP:0001640
9896	FIG4	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0009835
9896	FIG4	Hearing impairment	HP:0000365
9896	FIG4	Low-set ears	HP:0000369
9896	FIG4	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0009843
9896	FIG4	Aplasia of the distal phalanx of the hallux	HP:0010102
9896	FIG4	Axonal loss	HP:0003447
9896	FIG4	Distal sensory impairment	HP:0002936
9896	FIG4	Short proximal phalanx of hallux	HP:0010107
9896	FIG4	Short clavicles	HP:0000894
9896	FIG4	Increased nuchal translucency	HP:0010880
9896	FIG4	Renal artery stenosis	HP:0001920
9896	FIG4	Small earlobe	HP:0000385
9896	FIG4	Slender long bones with narrow diaphyses	HP:0004993
9896	FIG4	Skeletal muscle atrophy	HP:0003202
9896	FIG4	Hypoplastic facial bones	HP:0002692
9896	FIG4	Neurodegeneration	HP:0002180
9896	FIG4	Sclerocornea	HP:0000647
9896	FIG4	Syndactyly	HP:0001159
9896	FIG4	Abnormal parietal bone morphology	HP:0002696
9896	FIG4	Sparse eyelashes	HP:0000653
9896	FIG4	Paralysis	HP:0003470
9896	FIG4	High, narrow palate	HP:0002705
9896	FIG4	Aplasia of the distal phalanges of the hand	HP:0009881
9896	FIG4	Distal muscle weakness	HP:0002460
9896	FIG4	Tapered finger	HP:0001182
9896	FIG4	Sparse scalp hair	HP:0002209
9896	FIG4	Shortening of all distal phalanges of the toes	HP:0005793
9896	FIG4	Glossoptosis	HP:0000162
9896	FIG4	Short finger	HP:0009381
9896	FIG4	Hypoplasia of the frontal lobes	HP:0007333
9896	FIG4	Aplasia/Hypoplasia of the hallux	HP:0008362
9896	FIG4	Bilateral external ear deformity	HP:0040111
9896	FIG4	Bulbar signs	HP:0002483
9896	FIG4	Premature loss of primary teeth	HP:0006323
9896	FIG4	Amyotrophic lateral sclerosis	HP:0007354
9896	FIG4	Single transverse palmar crease	HP:0000954
9896	FIG4	Short middle phalanx of finger	HP:0005819
9896	FIG4	Congenital microcephaly	HP:0011451
9896	FIG4	Short upper lip	HP:0000188
9896	FIG4	Upper motor neuron dysfunction	HP:0002493
9896	FIG4	Postnatal growth retardation	HP:0008897
9896	FIG4	Aplasia/Hypoplasia of the nails	HP:0008386
9896	FIG4	Flared metaphysis	HP:0003015
9896	FIG4	Emotional lability	HP:0000712
9896	FIG4	Agitation	HP:0000713
9896	FIG4	Depressivity	HP:0000716
9896	FIG4	Aggressive behavior	HP:0000718
9896	FIG4	Anteverted nares	HP:0000463
9896	FIG4	Abnormality of the neck	HP:0000464
9896	FIG4	Renovascular hypertension	HP:0100817
9896	FIG4	Bilateral microphthalmos	HP:0007633
9896	FIG4	Broad secondary alveolar ridge	HP:0000216
9896	FIG4	Clitoral hypertrophy	HP:0008665
9896	FIG4	Xerostomia	HP:0000217
9896	FIG4	Neuronal loss in central nervous system	HP:0002529
9896	FIG4	Nausea and vomiting	HP:0002017
9896	FIG4	Short stature	HP:0004322
9896	FIG4	Abnormal pelvis bone morphology	HP:0040163
9896	FIG4	Anxiety	HP:0000739
9896	FIG4	Absent sternal ossification	HP:0006628
9896	FIG4	Pyloric stenosis	HP:0002021
9896	FIG4	Intrauterine growth retardation	HP:0001511
9896	FIG4	Generalized neonatal hypotonia	HP:0008935
9896	FIG4	Thin vermilion border	HP:0000233
9896	FIG4	Spasticity	HP:0001257
9896	FIG4	Toe syndactyly	HP:0001770
9896	FIG4	Decreased skull ossification	HP:0004331
9896	FIG4	Hydrocephalus	HP:0000238
9896	FIG4	Large fontanelles	HP:0000239
9896	FIG4	Global developmental delay	HP:0001263
9896	FIG4	Hyporeflexia	HP:0001265
9896	FIG4	Fatigable weakness of swallowing muscles	HP:0030195
9896	FIG4	Pain	HP:0012531
9896	FIG4	Variable expressivity	HP:0003828
9896	FIG4	Fatigable weakness of respiratory muscles	HP:0030196
9896	FIG4	Severe failure to thrive	HP:0001525
9896	FIG4	Motor delay	HP:0001270
9896	FIG4	Agenesis of corpus callosum	HP:0001274
9896	FIG4	Decreased nerve conduction velocity	HP:0000762
9896	FIG4	Microcephaly	HP:0000252
9896	FIG4	Generalized muscle weakness	HP:0003324
9896	FIG4	Hydrops fetalis	HP:0001789
9897	WASHC5	Macrocephaly	HP:0000256
9897	WASHC5	Insidious onset	HP:0003587
9897	WASHC5	Intestinal malrotation	HP:0002566
9897	WASHC5	Autosomal dominant inheritance	HP:0000006
9897	WASHC5	Autosomal recessive inheritance	HP:0000007
9897	WASHC5	Degeneration of the lateral corticospinal tracts	HP:0002314
9897	WASHC5	Generalized hypotonia	HP:0001290
9897	WASHC5	Hypoplastic fingernail	HP:0001804
9897	WASHC5	Urinary urgency	HP:0000012
9897	WASHC5	Prominent occiput	HP:0000269
9897	WASHC5	Lower limb spasticity	HP:0002061
9897	WASHC5	Spastic gait	HP:0002064
9897	WASHC5	Urinary incontinence	HP:0000020
9897	WASHC5	Limb ataxia	HP:0002070
9897	WASHC5	Inguinal hernia	HP:0000023
9897	WASHC5	Urinary bladder sphincter dysfunction	HP:0002839
9897	WASHC5	Dandy-Walker malformation	HP:0001305
9897	WASHC5	Hypoplastic left heart	HP:0004383
9897	WASHC5	Hypoplasia of penis	HP:0008736
9897	WASHC5	Atrioventricular canal defect	HP:0006695
9897	WASHC5	Ectopic anus	HP:0004397
9897	WASHC5	Hypospadias	HP:0000047
9897	WASHC5	Difficulty walking	HP:0002355
9897	WASHC5	Aplasia/Hypoplasia of the nipples	HP:0006709
9897	WASHC5	Chorioretinal coloboma	HP:0000567
9897	WASHC5	Growth hormone deficiency	HP:0000824
9897	WASHC5	Hypertelorism	HP:0000316
9897	WASHC5	Muscle spasm	HP:0003394
9897	WASHC5	Adrenal hypoplasia	HP:0000835
9897	WASHC5	Hyperreflexia	HP:0001347
9897	WASHC5	Facial hemangioma	HP:0000329
9897	WASHC5	Upper limb spasticity	HP:0006986
9897	WASHC5	Coloboma	HP:0000589
9897	WASHC5	Broad forehead	HP:0000337
9897	WASHC5	Peroneal muscle atrophy	HP:0009049
9897	WASHC5	Scoliosis	HP:0002650
9897	WASHC5	Micrognathia	HP:0000347
9897	WASHC5	Progressive	HP:0003676
9897	WASHC5	High forehead	HP:0000348
9897	WASHC5	Ventricular septal defect	HP:0001629
9897	WASHC5	Atrial septal defect	HP:0001631
9897	WASHC5	Abnormal mitral valve morphology	HP:0001633
9897	WASHC5	Tetralogy of Fallot	HP:0001636
9897	WASHC5	Iris coloboma	HP:0000612
9897	WASHC5	Limb dysmetria	HP:0002406
9897	WASHC5	Pulmonic stenosis	HP:0001642
9897	WASHC5	Progressive spastic paraplegia	HP:0007020
9897	WASHC5	Low-set ears	HP:0000369
9897	WASHC5	Aortic valve stenosis	HP:0001650
9897	WASHC5	Low posterior hairline	HP:0002162
9897	WASHC5	Impaired vibration sensation in the lower limbs	HP:0002166
9897	WASHC5	Neurological speech impairment	HP:0002167
9897	WASHC5	Hemivertebrae	HP:0002937
9897	WASHC5	Clonus	HP:0002169
9897	WASHC5	Posterior fossa cyst	HP:0007291
9897	WASHC5	Short nose	HP:0003196
9897	WASHC5	Hydronephrosis	HP:0000126
9897	WASHC5	Preauricular skin tag	HP:0000384
9897	WASHC5	Brachydactyly	HP:0001156
9897	WASHC5	Syndactyly	HP:0001159
9897	WASHC5	Optic atrophy	HP:0000648
9897	WASHC5	Hand polydactyly	HP:0001161
9897	WASHC5	Progressive pes cavus	HP:0008075
9897	WASHC5	High, narrow palate	HP:0002705
9897	WASHC5	Missing ribs	HP:0000921
9897	WASHC5	Recurrent respiratory infections	HP:0002205
9897	WASHC5	Babinski sign	HP:0003487
9897	WASHC5	Depressed nasal bridge	HP:0005280
9897	WASHC5	Abnormal tricuspid valve morphology	HP:0001702
9897	WASHC5	Feeding difficulties in infancy	HP:0008872
9897	WASHC5	Single umbilical artery	HP:0001195
9897	WASHC5	Lower limb muscle weakness	HP:0007340
9897	WASHC5	Wide nasal bridge	HP:0000431
9897	WASHC5	Cleft palate	HP:0000175
9897	WASHC5	Double outlet right ventricle	HP:0001719
9897	WASHC5	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9897	WASHC5	Postnatal growth retardation	HP:0008897
9897	WASHC5	Abnormality of the hip bone	HP:0003272
9897	WASHC5	Spinal cord lesion	HP:0100561
9897	WASHC5	Finger syndactyly	HP:0006101
9897	WASHC5	Short neck	HP:0000470
9897	WASHC5	Frontal bossing	HP:0002007
9897	WASHC5	Abnormality of neuronal migration	HP:0002269
9897	WASHC5	Intellectual disability	HP:0001249
9897	WASHC5	Pes cavus	HP:0001761
9897	WASHC5	Short stature	HP:0004322
9897	WASHC5	Muscular hypotonia	HP:0001252
9897	WASHC5	Gastroesophageal reflux	HP:0002020
9897	WASHC5	Anal atresia	HP:0002023
9897	WASHC5	Intrauterine growth retardation	HP:0001511
9897	WASHC5	Spastic paraplegia	HP:0001258
9897	WASHC5	Abnormality of the fontanelles or cranial sutures	HP:0000235
9897	WASHC5	Downslanted palpebral fissures	HP:0000494
9897	WASHC5	Hydrocephalus	HP:0000238
9897	WASHC5	Global developmental delay	HP:0001263
9897	WASHC5	Death in infancy	HP:0001522
9897	WASHC5	Glaucoma	HP:0000501
9897	WASHC5	Kyphosis	HP:0002808
9897	WASHC5	Brachycephaly	HP:0000248
9897	WASHC5	Adult onset	HP:0003581
26281	FGF20	Sirenomelia	HP:0010497
26281	FGF20	Abnormal intestine morphology	HP:0002242
26281	FGF20	Nonketotic hypoglycemia	HP:0001958
26281	FGF20	Autosomal recessive inheritance	HP:0000007
26281	FGF20	Abnormality of female internal genitalia	HP:0000008
26281	FGF20	Renal agenesis	HP:0000104
26281	FGF20	Pulmonary hypoplasia	HP:0002089
26281	FGF20	Depressed nasal ridge	HP:0000457
26281	FGF20	Urogenital fistula	HP:0100589
26281	FGF20	Non-midline cleft lip	HP:0100335
26281	FGF20	Redundant skin	HP:0001582
26281	FGF20	Cleft palate	HP:0000175
26281	FGF20	Tracheoesophageal fistula	HP:0002575
26281	FGF20	Low-set ears	HP:0000369
26281	FGF20	Abnormal sacrum morphology	HP:0005107
26281	FGF20	Abnormality of cardiovascular system morphology	HP:0030680
26281	FGF20	Potter facies	HP:0002009
26281	FGF20	Oligohydramnios	HP:0001562
26281	FGF20	Fetal polyuria	HP:0001563
26281	FGF20	Hypertelorism	HP:0000316
26281	FGF20	Epicanthus	HP:0000286
26284	ERAL1	Premature ovarian insufficiency	HP:0008209
26284	ERAL1	Secondary amenorrhea	HP:0000869
26284	ERAL1	Hypoplasia of the uterus	HP:0000013
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	Ataxia	HP:0001251
124590	USH1G	Anxiety	HP:0000739
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
9907	AP5Z1	Hyperreflexia	HP:0001347
9907	AP5Z1	Autosomal recessive inheritance	HP:0000007
9907	AP5Z1	Lower limb spasticity	HP:0002061
9907	AP5Z1	Spastic gait	HP:0002064
9907	AP5Z1	Urinary incontinence	HP:0000020
9907	AP5Z1	Parkinsonism	HP:0001300
9907	AP5Z1	Abnormality of the periventricular white matter	HP:0002518
9907	AP5Z1	Urinary bladder sphincter dysfunction	HP:0002839
9907	AP5Z1	Broad-based gait	HP:0002136
9907	AP5Z1	Progressive	HP:0003676
9907	AP5Z1	Dysmetria	HP:0001310
9907	AP5Z1	Hypoplasia of the corpus callosum	HP:0002079
9907	AP5Z1	Intellectual disability	HP:0001249
9907	AP5Z1	Ataxia	HP:0001251
9907	AP5Z1	Elevated serum creatine kinase	HP:0003236
9907	AP5Z1	Peripheral neuropathy	HP:0009830
9907	AP5Z1	Retinopathy	HP:0000488
9907	AP5Z1	Hyperintensity of cerebral white matter on MRI	HP:0030890
9907	AP5Z1	Spastic paraplegia	HP:0001258
9907	AP5Z1	Progressive spastic paraplegia	HP:0007020
9907	AP5Z1	Lower limb muscle weakness	HP:0007340
9907	AP5Z1	Global developmental delay	HP:0001263
9907	AP5Z1	Mental deterioration	HP:0001268
9907	AP5Z1	Abnormality of the cervical spine	HP:0003319
9907	AP5Z1	Myoclonus	HP:0001336
9907	AP5Z1	Cognitive impairment	HP:0100543
1716	DGUOK	Ragged-red muscle fibers	HP:0003200
1716	DGUOK	Portal hypertension	HP:0001409
1716	DGUOK	Hypoalbuminemia	HP:0003073
1716	DGUOK	Skeletal muscle atrophy	HP:0003202
1716	DGUOK	Ascites	HP:0001541
1716	DGUOK	Micronodular cirrhosis	HP:0001413
1716	DGUOK	Cataract	HP:0000518
1716	DGUOK	Autosomal recessive inheritance	HP:0000007
1716	DGUOK	Optic atrophy	HP:0000648
1716	DGUOK	Generalized hypotonia	HP:0001290
1716	DGUOK	Cerebral atrophy	HP:0002059
1716	DGUOK	Decreased activity of mitochondrial respiratory chain	HP:0008972
1716	DGUOK	Encephalopathy	HP:0001298
1716	DGUOK	Peripheral axonal neuropathy	HP:0003477
1716	DGUOK	Hypoglycemia	HP:0001943
1716	DGUOK	Sensorineural hearing impairment	HP:0000407
1716	DGUOK	Mitochondrial myopathy	HP:0003737
1716	DGUOK	Distal muscle weakness	HP:0002460
1716	DGUOK	Elevated serum creatine kinase	HP:0003236
1716	DGUOK	Pelvic girdle muscle weakness	HP:0003749
1716	DGUOK	Abnormal conjugate eye movement	HP:0000549
1716	DGUOK	Adult onset sensorineural hearing impairment	HP:0008615
1716	DGUOK	Feeding difficulties in infancy	HP:0008872
1716	DGUOK	Lower limb muscle weakness	HP:0007340
1716	DGUOK	Depletion of mitochondrial DNA in liver	HP:0006581
1716	DGUOK	Lactic acidosis	HP:0003128
1716	DGUOK	Jaundice	HP:0000952
1716	DGUOK	Sensory axonal neuropathy	HP:0003390
1716	DGUOK	Asthenia	HP:0025406
1716	DGUOK	Cognitive impairment	HP:0100543
1716	DGUOK	Hepatomegaly	HP:0002240
1716	DGUOK	Muscle spasm	HP:0003394
1716	DGUOK	Hyperreflexia	HP:0001347
1716	DGUOK	Cerebral cortical atrophy	HP:0002120
1716	DGUOK	Depressivity	HP:0000716
1716	DGUOK	Progressive external ophthalmoplegia	HP:0000590
1716	DGUOK	Bilateral ptosis	HP:0001488
1716	DGUOK	Splenomegaly	HP:0001744
1716	DGUOK	Thrombocytopenia	HP:0001873
1716	DGUOK	Dysphonia	HP:0001618
1716	DGUOK	Limb-girdle muscle atrophy	HP:0003797
1716	DGUOK	Dementia	HP:0000726
1716	DGUOK	Hyperbilirubinemia	HP:0002904
1716	DGUOK	Vomiting	HP:0002013
1716	DGUOK	Generalized aminoaciduria	HP:0002909
1716	DGUOK	Elevated hepatic transaminase	HP:0002910
1716	DGUOK	Dysphagia	HP:0002015
1716	DGUOK	Seizures	HP:0001250
1716	DGUOK	Ataxia	HP:0001251
1716	DGUOK	Muscular hypotonia	HP:0001252
1716	DGUOK	Failure to thrive	HP:0001508
1716	DGUOK	Strabismus	HP:0000486
1716	DGUOK	Viral infection-induced rhabdomyolysis	HP:0003558
1716	DGUOK	Growth delay	HP:0001510
1716	DGUOK	Increased serum lactate	HP:0002151
1716	DGUOK	Hyporeflexia	HP:0001265
1716	DGUOK	Hepatic steatosis	HP:0001397
1716	DGUOK	Proximal muscle weakness	HP:0003701
1716	DGUOK	Hepatic failure	HP:0001399
1716	DGUOK	Polyneuropathy	HP:0001271
1716	DGUOK	Microcephaly	HP:0000252
1716	DGUOK	Hepatocellular necrosis	HP:0001404
1716	DGUOK	Ptosis	HP:0000508
1716	DGUOK	Hypothermia	HP:0002045
1716	DGUOK	Periportal fibrosis	HP:0001405
1716	DGUOK	Adult onset	HP:0003581
1716	DGUOK	Myalgia	HP:0003326
1716	DGUOK	Nystagmus	HP:0000639
83636	C19ORF12	Neurodegeneration	HP:0002180
83636	C19ORF12	Autosomal recessive inheritance	HP:0000007
83636	C19ORF12	Gait disturbance	HP:0001288
83636	C19ORF12	Optic atrophy	HP:0000648
83636	C19ORF12	Spastic paraparesis	HP:0002313
83636	C19ORF12	Generalized hypotonia	HP:0001290
83636	C19ORF12	Rigidity	HP:0002063
83636	C19ORF12	Spastic gait	HP:0002064
83636	C19ORF12	Oromandibular dystonia	HP:0012048
83636	C19ORF12	Hyperactive deep tendon reflexes	HP:0006801
83636	C19ORF12	Progressive visual loss	HP:0000529
83636	C19ORF12	Bradykinesia	HP:0002067
83636	C19ORF12	Urinary incontinence	HP:0000020
83636	C19ORF12	Parkinsonism	HP:0001300
83636	C19ORF12	Abnormal globus pallidus morphology	HP:0002453
83636	C19ORF12	Distal muscle weakness	HP:0002460
83636	C19ORF12	Babinski sign	HP:0003487
83636	C19ORF12	Elevated serum creatine kinase	HP:0003236
83636	C19ORF12	Hyperactive patellar reflex	HP:0007083
83636	C19ORF12	Muscle weakness	HP:0001324
83636	C19ORF12	Respiratory insufficiency	HP:0002093
83636	C19ORF12	Bowel incontinence	HP:0002607
83636	C19ORF12	Difficulty walking	HP:0002355
83636	C19ORF12	Dystonia	HP:0001332
83636	C19ORF12	Frequent falls	HP:0002359
83636	C19ORF12	Tremor	HP:0001337
83636	C19ORF12	Abnormal saccadic eye movements	HP:0000570
83636	C19ORF12	Shuffling gait	HP:0002362
83636	C19ORF12	Abnormal lower motor neuron morphology	HP:0002366
83636	C19ORF12	Impaired vibratory sensation	HP:0002495
83636	C19ORF12	Ankle contracture	HP:0006466
83636	C19ORF12	Hyperreflexia	HP:0001347
83636	C19ORF12	Behavioral abnormality	HP:0000708
83636	C19ORF12	Brisk reflexes	HP:0001348
83636	C19ORF12	Emotional lability	HP:0000712
83636	C19ORF12	Hand tremor	HP:0002378
83636	C19ORF12	Depressivity	HP:0000716
83636	C19ORF12	Abnormality of the substantia nigra	HP:0045007
83636	C19ORF12	Dementia	HP:0000726
83636	C19ORF12	Motor axonal neuropathy	HP:0007002
83636	C19ORF12	Lewy bodies	HP:0100315
83636	C19ORF12	Progressive	HP:0003676
83636	C19ORF12	Slow progression	HP:0003677
83636	C19ORF12	Dysphagia	HP:0002015
83636	C19ORF12	Pes cavus	HP:0001761
83636	C19ORF12	Poor fine motor coordination	HP:0007010
83636	C19ORF12	Ataxia	HP:0001251
83636	C19ORF12	Impulsivity	HP:0100710
83636	C19ORF12	Spasticity	HP:0001257
83636	C19ORF12	Spastic paraplegia	HP:0001258
83636	C19ORF12	Scapular winging	HP:0003691
83636	C19ORF12	Knee flexion contracture	HP:0006380
83636	C19ORF12	Dysarthria	HP:0001260
83636	C19ORF12	Distal amyotrophy	HP:0003693
83636	C19ORF12	Absent Achilles reflex	HP:0003438
83636	C19ORF12	Delayed speech and language development	HP:0000750
83636	C19ORF12	Global developmental delay	HP:0001263
83636	C19ORF12	Hyporeflexia	HP:0001265
83636	C19ORF12	Flexion contracture of finger	HP:0012785
83636	C19ORF12	Variable expressivity	HP:0003828
83636	C19ORF12	Mental deterioration	HP:0001268
83636	C19ORF12	Distal sensory impairment	HP:0002936
83636	C19ORF12	Cerebellar atrophy	HP:0001272
83636	C19ORF12	Postural instability	HP:0002172
1717	DHCR7	Multicystic kidney dysplasia	HP:0000003
1717	DHCR7	Abnormality of the ribs	HP:0000772
1717	DHCR7	Cataract	HP:0000518
1717	DHCR7	Intestinal malrotation	HP:0002566
1717	DHCR7	Gastroschisis	HP:0001543
1717	DHCR7	Autosomal recessive inheritance	HP:0000007
1717	DHCR7	Congenital diaphragmatic hernia	HP:0000776
1717	DHCR7	Proptosis	HP:0000520
1717	DHCR7	Generalized hypotonia	HP:0001290
1717	DHCR7	Hip dislocation	HP:0002827
1717	DHCR7	Gastrointestinal dysmotility	HP:0002579
1717	DHCR7	Decreased fetal movement	HP:0001558
1717	DHCR7	Polyhydramnios	HP:0001561
1717	DHCR7	Dandy-Walker malformation	HP:0001305
1717	DHCR7	Cryptorchidism	HP:0000028
1717	DHCR7	Epicanthus	HP:0000286
1717	DHCR7	Hypoplasia of the corpus callosum	HP:0002079
1717	DHCR7	Hypoplasia of penis	HP:0008736
1717	DHCR7	Postaxial foot polydactyly	HP:0001830
1717	DHCR7	Atrioventricular canal defect	HP:0006695
1717	DHCR7	Short toe	HP:0001831
1717	DHCR7	Pulmonary hypoplasia	HP:0002089
1717	DHCR7	Bicornuate uterus	HP:0000813
1717	DHCR7	Scrotal hypoplasia	HP:0000046
1717	DHCR7	Hypospadias	HP:0000047
1717	DHCR7	Metatarsus adductus	HP:0001840
1717	DHCR7	Bifid scrotum	HP:0000048
1717	DHCR7	Short thumb	HP:0009778
1717	DHCR7	Cholestatic liver disease	HP:0002611
1717	DHCR7	Abnormal dermatoglyphics	HP:0007477
1717	DHCR7	Abnormal lung lobation	HP:0002101
1717	DHCR7	Overlapping toe	HP:0001845
1717	DHCR7	Micropenis	HP:0000054
1717	DHCR7	Bifid tongue	HP:0010297
1717	DHCR7	Precocious puberty	HP:0000826
1717	DHCR7	Hypertelorism	HP:0000316
1717	DHCR7	Increased number of teeth	HP:0011069
1717	DHCR7	Ambiguous genitalia	HP:0000062
1717	DHCR7	Abnormality of the larynx	HP:0001600
1717	DHCR7	Sleep-wake cycle disturbance	HP:0006979
1717	DHCR7	Upslanted palpebral fissure	HP:0000582
1717	DHCR7	Biparietal narrowing	HP:0004422
1717	DHCR7	Ventriculomegaly	HP:0002119
1717	DHCR7	Elevated 7-dehydrocholesterol	HP:0010569
1717	DHCR7	Ureteropelvic junction obstruction	HP:0000074
1717	DHCR7	Hypocholesterolemia	HP:0003146
1717	DHCR7	Reduced number of teeth	HP:0009804
1717	DHCR7	Holoprosencephaly	HP:0001360
1717	DHCR7	Abnormality of dental morphology	HP:0006482
1717	DHCR7	2-3 toe syndactyly	HP:0004691
1717	DHCR7	Narrow forehead	HP:0000341
1717	DHCR7	Premature birth	HP:0001622
1717	DHCR7	Long philtrum	HP:0000343
1717	DHCR7	Breech presentation	HP:0001623
1717	DHCR7	Renal hypoplasia	HP:0000089
1717	DHCR7	Scoliosis	HP:0002650
1717	DHCR7	Micrognathia	HP:0000347
1717	DHCR7	Hip subluxation	HP:0030043
1717	DHCR7	Talipes calcaneovalgus	HP:0001884
1717	DHCR7	Ventricular septal defect	HP:0001629
1717	DHCR7	Atrial septal defect	HP:0001631
1717	DHCR7	Iris coloboma	HP:0000612
1717	DHCR7	Aplasia/Hypoplasia of the radius	HP:0006501
1717	DHCR7	Posteriorly rotated ears	HP:0000358
1717	DHCR7	Renal agenesis	HP:0000104
1717	DHCR7	Attention deficit hyperactivity disorder	HP:0007018
1717	DHCR7	Patent ductus arteriosus	HP:0001643
1717	DHCR7	Renal cyst	HP:0000107
1717	DHCR7	Self-injurious behavior	HP:0100716
1717	DHCR7	Hearing impairment	HP:0000365
1717	DHCR7	Low-set, posteriorly rotated ears	HP:0000368
1717	DHCR7	Severe photosensitivity	HP:0007537
1717	DHCR7	Low-set ears	HP:0000369
1717	DHCR7	Aplasia/Hypoplasia affecting the eye	HP:0008056
1717	DHCR7	Unilateral renal agenesis	HP:0000122
1717	DHCR7	Hydronephrosis	HP:0000126
1717	DHCR7	Nystagmus	HP:0000639
1717	DHCR7	Increased nuchal translucency	HP:0010880
1717	DHCR7	Septate vagina	HP:0001153
1717	DHCR7	Brachydactyly	HP:0001156
1717	DHCR7	Sclerocornea	HP:0000647
1717	DHCR7	Optic atrophy	HP:0000648
1717	DHCR7	Postaxial hand polydactyly	HP:0001162
1717	DHCR7	Abnormality of the metacarpal bones	HP:0001163
1717	DHCR7	Abnormality of the gallbladder	HP:0005264
1717	DHCR7	Advanced eruption of teeth	HP:0006288
1717	DHCR7	Coarctation of aorta	HP:0001680
1717	DHCR7	Split hand	HP:0001171
1717	DHCR7	Recurrent otitis media	HP:0000403
1717	DHCR7	Sensorineural hearing impairment	HP:0000407
1717	DHCR7	Proximal placement of thumb	HP:0009623
1717	DHCR7	Wide mouth	HP:0000154
1717	DHCR7	Recurrent infections	HP:0002719
1717	DHCR7	Epiphyseal stippling	HP:0010655
1717	DHCR7	Depressed nasal bridge	HP:0005280
1717	DHCR7	Hypoplasia of the frontal lobes	HP:0007333
1717	DHCR7	Dental crowding	HP:0000678
1717	DHCR7	Micromelia	HP:0002983
1717	DHCR7	Feeding difficulties in infancy	HP:0008872
1717	DHCR7	Abnormality of dental enamel	HP:0000682
1717	DHCR7	Microglossia	HP:0000171
1717	DHCR7	Cleft palate	HP:0000175
1717	DHCR7	Wide nasal bridge	HP:0000431
1717	DHCR7	Broad alveolar ridges	HP:0000187
1717	DHCR7	Abnormal localization of kidney	HP:0100542
1717	DHCR7	Aplasia/Hypoplasia of the cerebellum	HP:0007360
1717	DHCR7	Eczema	HP:0000964
1717	DHCR7	Choanal atresia	HP:0000453
1717	DHCR7	Cutis marmorata	HP:0000965
1717	DHCR7	Rhizomelia	HP:0008905
1717	DHCR7	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
1717	DHCR7	Aganglionic megacolon	HP:0002251
1717	DHCR7	Autism	HP:0000717
1717	DHCR7	Aggressive behavior	HP:0000718
1717	DHCR7	Anteverted nares	HP:0000463
1717	DHCR7	Wide intermamillary distance	HP:0006610
1717	DHCR7	Mesomelia	HP:0003027
1717	DHCR7	Gingival overgrowth	HP:0000212
1717	DHCR7	Finger syndactyly	HP:0006101
1717	DHCR7	Short neck	HP:0000470
1717	DHCR7	Tracheal stenosis	HP:0002777
1717	DHCR7	Clitoral hypertrophy	HP:0008665
1717	DHCR7	Vomiting	HP:0002013
1717	DHCR7	Hypopigmentation of hair	HP:0005599
1717	DHCR7	Cutaneous photosensitivity	HP:0000992
1717	DHCR7	Intellectual disability	HP:0001249
1717	DHCR7	Seizures	HP:0001250
1717	DHCR7	Short stature	HP:0004322
1717	DHCR7	Constipation	HP:0002019
1717	DHCR7	Muscular hypotonia	HP:0001252
1717	DHCR7	Facial capillary hemangioma	HP:0000996
1717	DHCR7	Gastroesophageal reflux	HP:0002020
1717	DHCR7	Failure to thrive	HP:0001508
1717	DHCR7	Pyloric stenosis	HP:0002021
1717	DHCR7	Hammertoe	HP:0001765
1717	DHCR7	Renal hypoplasia/aplasia	HP:0008678
1717	DHCR7	Strabismus	HP:0000486
1717	DHCR7	Self-mutilation	HP:0000742
1717	DHCR7	Intrauterine growth retardation	HP:0001511
1717	DHCR7	Excessive daytime somnolence	HP:0001262
1717	DHCR7	Downslanted palpebral fissures	HP:0000494
1717	DHCR7	Hydrocephalus	HP:0000238
1717	DHCR7	Global developmental delay	HP:0001263
1717	DHCR7	Abnormal form of the vertebral bodies	HP:0003312
1717	DHCR7	Hyperactivity	HP:0000752
1717	DHCR7	Poor suck	HP:0002033
1717	DHCR7	Abnormal eyelash morphology	HP:0000499
1717	DHCR7	Glaucoma	HP:0000501
1717	DHCR7	Kyphosis	HP:0002808
1717	DHCR7	Ulnar deviation of finger	HP:0009465
1717	DHCR7	Microcephaly	HP:0000252
1717	DHCR7	Ptosis	HP:0000508
1717	DHCR7	Hypertonia	HP:0001276
1717	DHCR7	Periventricular heterotopia	HP:0007165
1718	DHCR24	Macrocephaly	HP:0000256
1718	DHCR24	Joint contracture of the hand	HP:0009473
1718	DHCR24	Relative macrocephaly	HP:0004482
1718	DHCR24	Intestinal malrotation	HP:0002566
1718	DHCR24	Autosomal recessive inheritance	HP:0000007
1718	DHCR24	Rigidity	HP:0002063
1718	DHCR24	Large earlobe	HP:0009748
1718	DHCR24	Anomalous pulmonary venous return	HP:0010772
1718	DHCR24	Pachygyria	HP:0001302
1718	DHCR24	Retrognathia	HP:0000278
1718	DHCR24	Generalized osteosclerosis	HP:0005789
1718	DHCR24	Epicanthus	HP:0000286
1718	DHCR24	Narrow mouth	HP:0000160
1718	DHCR24	Depressed nasal bridge	HP:0005280
1718	DHCR24	Ambiguous genitalia, male	HP:0000033
1718	DHCR24	Hypoplastic nasal bridge	HP:0005281
1718	DHCR24	Abnormal circulating cholesterol concentration	HP:0003107
1718	DHCR24	Micromelia	HP:0002983
1718	DHCR24	Total anomalous pulmonary venous return	HP:0005160
1718	DHCR24	Gingival fibromatosis	HP:0000169
1718	DHCR24	Cleft palate	HP:0000175
1718	DHCR24	Metatarsus adductus	HP:0001840
1718	DHCR24	Submucous cleft hard palate	HP:0000176
1718	DHCR24	Absent septum pellucidum	HP:0001331
1718	DHCR24	Severe short stature	HP:0003510
1718	DHCR24	Partial agenesis of the corpus callosum	HP:0001338
1718	DHCR24	Macrogyria	HP:0007227
1718	DHCR24	Ambiguous genitalia, female	HP:0000061
1718	DHCR24	Ambiguous genitalia	HP:0000062
1718	DHCR24	Feeding difficulties	HP:0011968
1718	DHCR24	Bifid uvula	HP:0000193
1718	DHCR24	Ventriculomegaly	HP:0002119
1718	DHCR24	Rhizomelia	HP:0008905
1718	DHCR24	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
1718	DHCR24	Polymicrogyria	HP:0002126
1718	DHCR24	Anteverted nares	HP:0000463
1718	DHCR24	Splenomegaly	HP:0001744
1718	DHCR24	Prominent forehead	HP:0011220
1718	DHCR24	Status epilepticus	HP:0002133
1718	DHCR24	Frontal bossing	HP:0002007
1718	DHCR24	Micrognathia	HP:0000347
1718	DHCR24	Talipes	HP:0001883
1718	DHCR24	Muscle stiffness	HP:0003552
1718	DHCR24	Intellectual disability	HP:0001249
1718	DHCR24	Seizures	HP:0001250
1718	DHCR24	Failure to thrive	HP:0001508
1718	DHCR24	Strabismus	HP:0000486
1718	DHCR24	Posteriorly rotated ears	HP:0000358
1718	DHCR24	Intrauterine growth retardation	HP:0001511
1718	DHCR24	Renal agenesis	HP:0000104
1718	DHCR24	Spasticity	HP:0001257
1718	DHCR24	Patent ductus arteriosus	HP:0001643
1718	DHCR24	Hydrocephalus	HP:0000238
1718	DHCR24	Downslanted palpebral fissures	HP:0000494
1718	DHCR24	Dermal atrophy	HP:0004334
1718	DHCR24	Global developmental delay	HP:0001263
1718	DHCR24	Bilateral talipes equinovarus	HP:0001776
1718	DHCR24	Low-set, posteriorly rotated ears	HP:0000368
1718	DHCR24	Low-set ears	HP:0000369
1718	DHCR24	Arthrogryposis multiplex congenita	HP:0002804
1718	DHCR24	Cupped ear	HP:0000378
1718	DHCR24	Agenesis of corpus callosum	HP:0001274
1718	DHCR24	Osteopetrosis	HP:0011002
1718	DHCR24	Microcephaly	HP:0000252
1718	DHCR24	Short nose	HP:0003196
1718	DHCR24	Alveolar ridge overgrowth	HP:0009085
1718	DHCR24	Nystagmus	HP:0000639
1719	DHFR	Delayed myelination	HP:0012448
1719	DHFR	Hepatomegaly	HP:0002240
1719	DHFR	Feeding difficulties	HP:0011968
1719	DHFR	Megaloblastic anemia	HP:0001889
1719	DHFR	Ataxia	HP:0001251
1719	DHFR	Autosomal recessive inheritance	HP:0000007
1719	DHFR	Eyelid myoclonus	HP:0025097
1719	DHFR	Absence seizure	HP:0002121
1719	DHFR	Cerebellar hypoplasia	HP:0001321
1719	DHFR	Generalized hypotonia	HP:0001290
1719	DHFR	Cerebral atrophy	HP:0002059
1719	DHFR	Postnatal microcephaly	HP:0005484
1719	DHFR	Global developmental delay	HP:0001263
1719	DHFR	Thrombocytopenia	HP:0001873
1719	DHFR	Pallor	HP:0000980
1719	DHFR	Pancytopenia	HP:0001876
1719	DHFR	Variable expressivity	HP:0003828
1719	DHFR	Poor head control	HP:0002421
1719	DHFR	Jaundice	HP:0000952
59067	IL21	Immunodeficiency	HP:0002721
59067	IL21	Failure to thrive	HP:0001508
59067	IL21	Inflammation of the large intestine	HP:0002037
59067	IL21	Growth delay	HP:0001510
59067	IL21	Autosomal recessive inheritance	HP:0000007
59067	IL21	Infantile onset	HP:0003593
59067	IL21	Decreased antibody level in blood	HP:0004313
59067	IL21	Chronic diarrhea	HP:0002028
59067	IL21	Recurrent respiratory infections	HP:0002205
1723	DHODH	Postnatal growth retardation	HP:0008897
1723	DHODH	Supernumerary vertebrae	HP:0002946
1723	DHODH	Choanal atresia	HP:0000453
1723	DHODH	Autosomal recessive inheritance	HP:0000007
1723	DHODH	Syndactyly	HP:0001159
1723	DHODH	Camptodactyly of finger	HP:0100490
1723	DHODH	Cleft upper lip	HP:0000204
1723	DHODH	Abnormality of the kidney	HP:0000077
1723	DHODH	Hypoplasia of the ulna	HP:0003022
1723	DHODH	Malar flattening	HP:0000272
1723	DHODH	Ectropion	HP:0000656
1723	DHODH	Conductive hearing impairment	HP:0000405
1723	DHODH	Finger syndactyly	HP:0006101
1723	DHODH	Abnormality of cardiovascular system morphology	HP:0030680
1723	DHODH	Micrognathia	HP:0000347
1723	DHODH	Midgut malrotation	HP:0005211
1723	DHODH	Cryptorchidism	HP:0000028
1723	DHODH	Congenital hip dislocation	HP:0001374
1723	DHODH	Radioulnar synostosis	HP:0002974
1723	DHODH	Abnormality of the foot	HP:0001760
1723	DHODH	Ectropion of lower eyelids	HP:0007651
1723	DHODH	Pyloric stenosis	HP:0002021
1723	DHODH	Growth delay	HP:0001510
1723	DHODH	Strabismus	HP:0000486
1723	DHODH	Microtia	HP:0008551
1723	DHODH	Hypoplasia of the radius	HP:0002984
1723	DHODH	Downslanted palpebral fissures	HP:0000494
1723	DHODH	Non-midline cleft lip	HP:0100335
1723	DHODH	Cleft palate	HP:0000175
1723	DHODH	Low-set, posteriorly rotated ears	HP:0000368
1723	DHODH	Low-set ears	HP:0000369
1723	DHODH	Eyelid coloboma	HP:0000625
1723	DHODH	Short thumb	HP:0009778
1723	DHODH	Abnormal dermatoglyphics	HP:0007477
1723	DHODH	Micropenis	HP:0000054
1723	DHODH	Cupped ear	HP:0000378
1723	DHODH	Conical tooth	HP:0000698
1723	DHODH	Supernumerary nipple	HP:0002558
1723	DHODH	Pectus excavatum	HP:0000767
9915	ARNT2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9915	ARNT2	Anterior pituitary hypoplasia	HP:0010627
9915	ARNT2	Hypohidrosis	HP:0000966
9915	ARNT2	Autosomal recessive inheritance	HP:0000007
9915	ARNT2	Maternal diabetes	HP:0009800
9915	ARNT2	Anosmia	HP:0000458
9915	ARNT2	Hip dislocation	HP:0002827
9915	ARNT2	Neurogenic bladder	HP:0000011
9915	ARNT2	Vesicoureteral reflux	HP:0000076
9915	ARNT2	Autism	HP:0000717
9915	ARNT2	Tracheoesophageal fistula	HP:0002575
9915	ARNT2	Prominent forehead	HP:0011220
9915	ARNT2	Hemiplegia/hemiparesis	HP:0004374
9915	ARNT2	Retrognathia	HP:0000278
9915	ARNT2	Sensorineural hearing impairment	HP:0000407
9915	ARNT2	Abnormality of cardiovascular system morphology	HP:0030680
9915	ARNT2	Fatigue	HP:0012378
9915	ARNT2	Cryptorchidism	HP:0000028
9915	ARNT2	Hypernatremia	HP:0003228
9915	ARNT2	Hypoplasia of the corpus callosum	HP:0002079
9915	ARNT2	Hypoplasia of penis	HP:0008736
9915	ARNT2	Delayed myelination	HP:0012448
9915	ARNT2	Intellectual disability	HP:0001249
9915	ARNT2	Seizures	HP:0001250
9915	ARNT2	Short stature	HP:0004322
9915	ARNT2	Constipation	HP:0002019
9915	ARNT2	Gastroesophageal reflux	HP:0002020
9915	ARNT2	Strabismus	HP:0000486
9915	ARNT2	Polydipsia	HP:0001959
9915	ARNT2	Obesity	HP:0001513
9915	ARNT2	Diabetes insipidus	HP:0000873
9915	ARNT2	Spasticity	HP:0001257
9915	ARNT2	Deeply set eye	HP:0000490
9915	ARNT2	Blindness	HP:0000618
9915	ARNT2	Septo-optic dysplasia	HP:0100842
9915	ARNT2	Postnatal microcephaly	HP:0005484
9915	ARNT2	Global developmental delay	HP:0001263
9915	ARNT2	Cleft palate	HP:0000175
9915	ARNT2	Esophageal atresia	HP:0002032
9915	ARNT2	Pituitary hypothyroidism	HP:0008245
9915	ARNT2	Sleep disturbance	HP:0002360
9915	ARNT2	Growth hormone deficiency	HP:0000824
9915	ARNT2	Visual impairment	HP:0000505
9915	ARNT2	Agenesis of corpus callosum	HP:0001274
9915	ARNT2	Dry skin	HP:0000958
9915	ARNT2	Hydronephrosis	HP:0000126
9915	ARNT2	Nystagmus	HP:0000639
9918	NCAPD2	Absent speech	HP:0001344
9918	NCAPD2	Intellectual disability, moderate	HP:0002342
9918	NCAPD2	Autosomal recessive inheritance	HP:0000007
1727	CYB5R3	Cyanosis	HP:0000961
1727	CYB5R3	Intellectual disability	HP:0001249
1727	CYB5R3	Opisthotonus	HP:0002179
1727	CYB5R3	Strabismus	HP:0000486
1727	CYB5R3	Growth delay	HP:0001510
1727	CYB5R3	Autosomal recessive inheritance	HP:0000007
1727	CYB5R3	Headache	HP:0002315
1727	CYB5R3	Polycythemia	HP:0001901
1727	CYB5R3	Global developmental delay	HP:0001263
1727	CYB5R3	Methemoglobinemia	HP:0012119
1727	CYB5R3	Exertional dyspnea	HP:0002875
1727	CYB5R3	Hypertonia	HP:0001276
1727	CYB5R3	Microcephaly	HP:0000252
1729	DIAPH1	Cerebral visual impairment	HP:0100704
1729	DIAPH1	Poor speech	HP:0002465
1729	DIAPH1	Short stature	HP:0004322
1729	DIAPH1	Seizures	HP:0001250
1729	DIAPH1	Progressive hearing impairment	HP:0001730
1729	DIAPH1	Autosomal dominant inheritance	HP:0000006
1729	DIAPH1	Autosomal recessive inheritance	HP:0000007
1729	DIAPH1	Childhood onset	HP:0011463
1729	DIAPH1	Optic atrophy	HP:0000648
1729	DIAPH1	Generalized hypotonia	HP:0001290
1729	DIAPH1	Thrombocytopenia	HP:0001873
1729	DIAPH1	Sensorineural hearing impairment	HP:0000407
1729	DIAPH1	Microcephaly	HP:0000252
1729	DIAPH1	Low-frequency hearing loss	HP:0008542
1729	DIAPH1	Hypoplasia of the corpus callosum	HP:0002079
1730	DIAPH2	Premature ovarian insufficiency	HP:0008209
1730	DIAPH2	Secondary amenorrhea	HP:0000869
1730	DIAPH2	X-linked dominant inheritance	HP:0001423
9927	MFN2	Dysmetric saccades	HP:0000641
9927	MFN2	Inability to walk by childhood/adolescence	HP:0006915
9927	MFN2	Areflexia	HP:0001284
9927	MFN2	Triceps weakness	HP:0031108
9927	MFN2	Autosomal dominant inheritance	HP:0000006
9927	MFN2	Autosomal recessive inheritance	HP:0000007
9927	MFN2	Optic atrophy	HP:0000648
9927	MFN2	Gait disturbance	HP:0001288
9927	MFN2	Abnormality of visual evoked potentials	HP:0000649
9927	MFN2	Infantile onset	HP:0003593
9927	MFN2	Mild neurosensory hearing impairment	HP:0008587
9927	MFN2	Arthralgia	HP:0002829
9927	MFN2	Delayed gross motor development	HP:0002194
9927	MFN2	Quadriceps muscle weakness	HP:0003731
9927	MFN2	Peripheral axonal neuropathy	HP:0003477
9927	MFN2	Foot pain	HP:0025238
9927	MFN2	Nyctalopia	HP:0000662
9927	MFN2	Sensorineural hearing impairment	HP:0000407
9927	MFN2	Distal muscle weakness	HP:0002460
9927	MFN2	Hand muscle weakness	HP:0030237
9927	MFN2	Optic disc pallor	HP:0000543
9927	MFN2	Babinski sign	HP:0003487
9927	MFN2	Impaired pain sensation	HP:0007328
9927	MFN2	Reduced tendon reflexes	HP:0001315
9927	MFN2	Restless legs	HP:0012452
9927	MFN2	Color vision defect	HP:0000551
9927	MFN2	Paresis of extensor muscles of the big toe	HP:0002601
9927	MFN2	Steppage gait	HP:0003376
9927	MFN2	Axonal degeneration/regeneration	HP:0003378
9927	MFN2	Difficulty walking	HP:0002355
9927	MFN2	Decreased number of peripheral myelinated nerve fibers	HP:0003380
9927	MFN2	Onion bulb formation	HP:0003383
9927	MFN2	Frequent falls	HP:0002359
9927	MFN2	Peripheral axonal atrophy	HP:0003384
9927	MFN2	Tremor	HP:0001337
9927	MFN2	Respiratory insufficiency due to muscle weakness	HP:0002747
9927	MFN2	Increased laxity of ankles	HP:0006460
9927	MFN2	Absent patellar reflexes	HP:0006844
9927	MFN2	Sensory axonal neuropathy	HP:0003390
9927	MFN2	Impaired vibratory sensation	HP:0002495
9927	MFN2	Hepatomegaly	HP:0002240
9927	MFN2	Muscle spasm	HP:0003394
9927	MFN2	Foot dorsiflexor weakness	HP:0009027
9927	MFN2	Hyperreflexia	HP:0001347
9927	MFN2	Vocal cord paresis	HP:0001604
9927	MFN2	Vocal cord paralysis	HP:0001605
9927	MFN2	Paresthesia	HP:0003401
9927	MFN2	Hoarse voice	HP:0001609
9927	MFN2	Anosmia	HP:0000458
9927	MFN2	Hand tremor	HP:0002378
9927	MFN2	Impaired temperature sensation	HP:0010829
9927	MFN2	Distal sensory impairment of all modalities	HP:0003409
9927	MFN2	Dysphonia	HP:0001618
9927	MFN2	Difficulty running	HP:0009046
9927	MFN2	Insulin resistance	HP:0000855
9927	MFN2	Scoliosis	HP:0002650
9927	MFN2	Central scotoma	HP:0000603
9927	MFN2	Flexion contracture	HP:0001371
9927	MFN2	Slow progression	HP:0003677
9927	MFN2	Distal lower limb muscle weakness	HP:0009053
9927	MFN2	Abnormality of the spinal cord	HP:0002143
9927	MFN2	Difficulty climbing stairs	HP:0003551
9927	MFN2	Pes cavus	HP:0001761
9927	MFN2	Upper limb pain	HP:0012513
9927	MFN2	Poor fine motor coordination	HP:0007010
9927	MFN2	Positive Romberg sign	HP:0002403
9927	MFN2	Hammertoe	HP:0001765
9927	MFN2	Decreased motor nerve conduction velocity	HP:0003431
9927	MFN2	Tinnitus	HP:0000360
9927	MFN2	Spasticity	HP:0001257
9927	MFN2	Limb muscle weakness	HP:0003690
9927	MFN2	Joint stiffness	HP:0001387
9927	MFN2	Distal amyotrophy	HP:0003693
9927	MFN2	Hearing impairment	HP:0000365
9927	MFN2	Hydrocephalus	HP:0000238
9927	MFN2	Absent Achilles reflex	HP:0003438
9927	MFN2	Distal lower limb amyotrophy	HP:0008944
9927	MFN2	Hyporeflexia	HP:0001265
9927	MFN2	Pain	HP:0012531
9927	MFN2	Slow decrease in visual acuity	HP:0007924
9927	MFN2	Mental deterioration	HP:0001268
9927	MFN2	Variable expressivity	HP:0003828
9927	MFN2	Multiple lipomas	HP:0001012
9927	MFN2	EMG: chronic denervation signs	HP:0003444
9927	MFN2	Proximal muscle weakness	HP:0003701
9927	MFN2	Incomplete penetrance	HP:0003829
9927	MFN2	Distal sensory impairment	HP:0002936
9927	MFN2	Kyphosis	HP:0002808
9927	MFN2	Lumbar hyperlordosis	HP:0002938
9927	MFN2	Hypertonia	HP:0001276
9927	MFN2	Postural tremor	HP:0002174
1736	DKC1	Reticulated skin pigmentation	HP:0007427
1736	DKC1	Cataract	HP:0000518
1736	DKC1	Abnormality of female internal genitalia	HP:0000008
1736	DKC1	Hypermelanotic macule	HP:0001034
1736	DKC1	Carcinoma	HP:0030731
1736	DKC1	Ridged nail	HP:0001807
1736	DKC1	Tracheoesophageal fistula	HP:0002575
1736	DKC1	Generalized hyperpigmentation	HP:0007440
1736	DKC1	Split nail	HP:0001809
1736	DKC1	Displacement of the urethral meatus	HP:0100627
1736	DKC1	Abnormal eyebrow morphology	HP:0000534
1736	DKC1	Cryptorchidism	HP:0000028
1736	DKC1	Hypopigmented skin patches	HP:0001053
1736	DKC1	Decreased testicular size	HP:0008734
1736	DKC1	Pterygium	HP:0001059
1736	DKC1	Abnormal testis morphology	HP:0000035
1736	DKC1	Cerebellar hypoplasia	HP:0001321
1736	DKC1	Restrictive ventilatory defect	HP:0002091
1736	DKC1	Squamous cell carcinoma	HP:0002860
1736	DKC1	Myelodysplasia	HP:0002863
1736	DKC1	Hypospadias	HP:0000047
1736	DKC1	Diabetes mellitus	HP:0000819
1736	DKC1	Alopecia	HP:0001596
1736	DKC1	Rough bone trabeculation	HP:0100670
1736	DKC1	Ventriculomegaly	HP:0002119
1736	DKC1	Hypoplasia of the maxilla	HP:0000327
1736	DKC1	Cerebral cortical atrophy	HP:0002120
1736	DKC1	Neoplasm of the pancreas	HP:0002894
1736	DKC1	Premature loss of teeth	HP:0006480
1736	DKC1	Thrombocytopenia	HP:0001873
1736	DKC1	Abnormality of neutrophils	HP:0001874
1736	DKC1	Pancytopenia	HP:0001876
1736	DKC1	Horseshoe kidney	HP:0000085
1736	DKC1	Abnormality of the pharynx	HP:0000600
1736	DKC1	Abnormal leukocyte morphology	HP:0001881
1736	DKC1	Leukopenia	HP:0001882
1736	DKC1	Scoliosis	HP:0002650
1736	DKC1	Anal mucosal leukoplakia	HP:0005212
1736	DKC1	Generalized hypopigmentation of hair	HP:0011358
1736	DKC1	White hair	HP:0011364
1736	DKC1	Skin vesicle	HP:0200037
1736	DKC1	Neoplasm	HP:0002664
1736	DKC1	Skin ulcer	HP:0200042
1736	DKC1	Lymphoma	HP:0002665
1736	DKC1	Hearing impairment	HP:0000365
1736	DKC1	Anemia	HP:0001903
1736	DKC1	Cirrhosis	HP:0001394
1736	DKC1	Pterygium of nails	HP:0002165
1736	DKC1	Hepatic failure	HP:0001399
1736	DKC1	Aplastic/hypoplastic toenail	HP:0010624
1736	DKC1	Aplasia/Hypoplasia of the skin	HP:0008065
1736	DKC1	Abnormal blistering of the skin	HP:0008066
1736	DKC1	Avascular necrosis	HP:0010885
1736	DKC1	Sparse hair	HP:0008070
1736	DKC1	Abnormality of coagulation	HP:0001928
1736	DKC1	Optic atrophy	HP:0000648
1736	DKC1	X-linked recessive inheritance	HP:0001419
1736	DKC1	Sparse eyelashes	HP:0000653
1736	DKC1	Bone marrow hypocellularity	HP:0005528
1736	DKC1	Hypodontia	HP:0000668
1736	DKC1	Hodgkin lymphoma	HP:0012189
1736	DKC1	Recurrent respiratory infections	HP:0002205
1736	DKC1	Pulmonary fibrosis	HP:0002206
1736	DKC1	Carious teeth	HP:0000670
1736	DKC1	Immunodeficiency	HP:0002721
1736	DKC1	Sparse scalp hair	HP:0002209
1736	DKC1	Taurodontia	HP:0000679
1736	DKC1	Premature graying of hair	HP:0002216
1736	DKC1	Osteoporosis	HP:0000939
1736	DKC1	Oral leukoplakia	HP:0002745
1736	DKC1	Hyperpigmentation of the skin	HP:0000953
1736	DKC1	Anorectal anomaly	HP:0012732
1736	DKC1	Hepatomegaly	HP:0002240
1736	DKC1	Periodontitis	HP:0000704
1736	DKC1	Recurrent fractures	HP:0002757
1736	DKC1	Epiphora	HP:0009926
1736	DKC1	Acute myeloid leukemia	HP:0004808
1736	DKC1	Phimosis	HP:0001741
1736	DKC1	Hyperhidrosis	HP:0000975
1736	DKC1	Abnormal fingernail morphology	HP:0001231
1736	DKC1	Splenomegaly	HP:0001744
1736	DKC1	Cerebral calcification	HP:0002514
1736	DKC1	Esophageal stenosis	HP:0010450
1736	DKC1	Nail dystrophy	HP:0008404
1736	DKC1	Urethral stenosis	HP:0008661
1736	DKC1	Palmoplantar keratoderma	HP:0000982
1736	DKC1	Excessive wrinkled skin	HP:0007392
1736	DKC1	Intellectual disability	HP:0001249
1736	DKC1	Short stature	HP:0004322
1736	DKC1	Ataxia	HP:0001251
1736	DKC1	Failure to thrive	HP:0001508
1736	DKC1	Strabismus	HP:0000486
1736	DKC1	Intrauterine growth retardation	HP:0001511
1736	DKC1	Malabsorption	HP:0002024
1736	DKC1	Telangiectasia of the skin	HP:0100585
1736	DKC1	Dermal atrophy	HP:0004334
1736	DKC1	Global developmental delay	HP:0001263
1736	DKC1	Hyporeflexia	HP:0001265
1736	DKC1	Blepharitis	HP:0000498
1736	DKC1	Abnormal eyelash morphology	HP:0000499
1736	DKC1	Esophageal stricture	HP:0002043
1736	DKC1	Hypertonia	HP:0001276
1736	DKC1	Microcephaly	HP:0000252
1736	DKC1	Conjunctivitis	HP:0000509
1736	DKC1	Cellular immunodeficiency	HP:0005374
9928	KIF14	Bifid uvula	HP:0000193
9928	KIF14	Hyperreflexia	HP:0001347
9928	KIF14	Upslanted palpebral fissure	HP:0000582
9928	KIF14	Autosomal recessive inheritance	HP:0000007
9928	KIF14	Ventriculomegaly	HP:0002119
9928	KIF14	Vesicoureteral reflux	HP:0000076
9928	KIF14	Anteverted nares	HP:0000463
9928	KIF14	Delayed gross motor development	HP:0002194
9928	KIF14	Sloping forehead	HP:0000340
9928	KIF14	Vaginal atresia	HP:0000148
9928	KIF14	Pachygyria	HP:0001302
9928	KIF14	Simplified gyral pattern	HP:0009879
9928	KIF14	Cerebral hypoplasia	HP:0006872
9928	KIF14	Renal hypoplasia	HP:0000089
9928	KIF14	Oligohydramnios	HP:0001562
9928	KIF14	Thin upper lip vermilion	HP:0000219
9928	KIF14	Micrognathia	HP:0000347
9928	KIF14	Abnormal cortical bone morphology	HP:0003103
9928	KIF14	Intellectual disability	HP:0001249
9928	KIF14	Optic nerve hypoplasia	HP:0000609
9928	KIF14	Poor speech	HP:0002465
9928	KIF14	Short stature	HP:0004322
9928	KIF14	Hypoplasia of the frontal lobes	HP:0007333
9928	KIF14	Strabismus	HP:0000486
9928	KIF14	Intrauterine growth retardation	HP:0001511
9928	KIF14	Small cerebral cortex	HP:0002472
9928	KIF14	Renal agenesis	HP:0000104
9928	KIF14	Cerebellar hypoplasia	HP:0001321
9928	KIF14	Attention deficit hyperactivity disorder	HP:0007018
9928	KIF14	Blindness	HP:0000618
9928	KIF14	Gray matter heterotopia	HP:0002282
9928	KIF14	Rocker bottom foot	HP:0001838
9928	KIF14	Hyperechogenic kidneys	HP:0004719
9928	KIF14	Global developmental delay	HP:0001263
9928	KIF14	Wide nasal bridge	HP:0000431
9928	KIF14	Intellectual disability, severe	HP:0010864
9928	KIF14	Low-set ears	HP:0000369
9928	KIF14	Arthrogryposis multiplex congenita	HP:0002804
9928	KIF14	Microphthalmia	HP:0000568
9928	KIF14	Unilateral renal agenesis	HP:0000122
9928	KIF14	Agenesis of corpus callosum	HP:0001274
9928	KIF14	Microcephaly	HP:0000252
1737	DLAT	Poor speech	HP:0002465
1737	DLAT	Drooling	HP:0002307
1737	DLAT	Ataxia	HP:0001251
1737	DLAT	Hyperreflexia	HP:0001347
1737	DLAT	Autosomal recessive inheritance	HP:0000007
1737	DLAT	Neonatal hypotonia	HP:0001319
1737	DLAT	Intellectual disability, mild	HP:0001256
1737	DLAT	Infantile onset	HP:0003593
1737	DLAT	Psychomotor retardation	HP:0025356
1737	DLAT	Global developmental delay	HP:0001263
1737	DLAT	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
1737	DLAT	Oculomotor apraxia	HP:0000657
1737	DLAT	Jerky head movements	HP:0006961
1737	DLAT	Delayed gross motor development	HP:0002194
1737	DLAT	Choreoathetosis	HP:0001266
1737	DLAT	Lactic acidosis	HP:0003128
1737	DLAT	Paroxysmal dystonia	HP:0002268
1737	DLAT	Ptosis	HP:0000508
1737	DLAT	Very rare	HP:0040284
1737	DLAT	Microcephaly	HP:0000252
1737	DLAT	Nystagmus	HP:0000639
1738	DLD	Feeding difficulties	HP:0011968
1738	DLD	Hepatomegaly	HP:0002240
1738	DLD	Decreased liver function	HP:0001410
1738	DLD	Muscle spasm	HP:0003394
1738	DLD	Hyperammonemia	HP:0001987
1738	DLD	Behavioral abnormality	HP:0000708
1738	DLD	Autosomal recessive inheritance	HP:0000007
1738	DLD	Generalized hypotonia	HP:0001290
1738	DLD	Encephalopathy	HP:0001298
1738	DLD	Metabolic acidosis	HP:0001942
1738	DLD	Neurodevelopmental delay	HP:0012758
1738	DLD	Hypoglycemia	HP:0001943
1738	DLD	Abnormal cardiac ventricular function	HP:0030872
1738	DLD	Elevated plasma branched chain amino acids	HP:0008344
1738	DLD	Vomiting	HP:0002013
1738	DLD	Elevated hepatic transaminase	HP:0002910
1738	DLD	Hyperisoleucinemia	HP:0010913
1738	DLD	Seizures	HP:0001250
1738	DLD	Decreased plasma carnitine	HP:0003234
1738	DLD	Ataxia	HP:0001251
1738	DLD	Failure to thrive	HP:0001508
1738	DLD	Lethargy	HP:0001254
1738	DLD	Cardiomyopathy	HP:0001638
1738	DLD	Hypertrophic cardiomyopathy	HP:0001639
1738	DLD	Increased serum lactate	HP:0002151
1738	DLD	Spasticity	HP:0001257
1738	DLD	Global developmental delay	HP:0001263
1738	DLD	Reduced visual acuity	HP:0007663
1738	DLD	Hepatic encephalopathy	HP:0002480
1738	DLD	Increased urine alpha-ketoglutarate concentration	HP:0012402
1738	DLD	Variable expressivity	HP:0003828
1738	DLD	Dystonia	HP:0001332
1738	DLD	Hypercoagulability	HP:0100724
1738	DLD	Hepatic failure	HP:0001399
1738	DLD	Lactic acidosis	HP:0003128
1738	DLD	Microcephaly	HP:0000252
91851	CHRDL1	Astigmatism	HP:0000483
91851	CHRDL1	Megalocornea	HP:0000485
91851	CHRDL1	Cataract	HP:0000518
91851	CHRDL1	Autosomal recessive inheritance	HP:0000007
91851	CHRDL1	Miosis	HP:0000616
91851	CHRDL1	X-linked inheritance	HP:0001417
91851	CHRDL1	X-linked recessive inheritance	HP:0001419
91851	CHRDL1	Lens subluxation	HP:0001132
91851	CHRDL1	Iridodonesis	HP:0100693
91851	CHRDL1	Glaucoma	HP:0000501
91851	CHRDL1	Corneal arcus	HP:0001084
91851	CHRDL1	Mosaic corneal dystrophy	HP:0007836
91851	CHRDL1	Retinal detachment	HP:0000541
91851	CHRDL1	Increased corneal thickness	HP:0011487
1741	DLG3	Intellectual disability	HP:0001249
1741	DLG3	Seizures	HP:0001250
1741	DLG3	Behavioral abnormality	HP:0000708
1741	DLG3	Enuresis	HP:0000805
1741	DLG3	Upslanted palpebral fissure	HP:0000582
1741	DLG3	Narrow chest	HP:0000774
1741	DLG3	Strabismus	HP:0000486
1741	DLG3	X-linked inheritance	HP:0001417
1741	DLG3	Generalized hypotonia	HP:0001290
1741	DLG3	X-linked recessive inheritance	HP:0001419
1741	DLG3	Delayed speech and language development	HP:0000750
1741	DLG3	Global developmental delay	HP:0001263
1741	DLG3	High palate	HP:0000218
9935	MAFB	Preauricular skin tag	HP:0000384
9935	MAFB	Aplasia/Hypoplasia of the thumb	HP:0009601
9935	MAFB	EMG abnormality	HP:0003457
9935	MAFB	Skeletal muscle atrophy	HP:0003202
9935	MAFB	Blepharospasm	HP:0000643
9935	MAFB	Brachydactyly	HP:0001156
9935	MAFB	Autosomal dominant inheritance	HP:0000006
9935	MAFB	Amblyopia	HP:0000646
9935	MAFB	Absent radius	HP:0003974
9935	MAFB	Abnormal vertebral segmentation and fusion	HP:0005640
9935	MAFB	Gait disturbance	HP:0001288
9935	MAFB	Proptosis	HP:0000520
9935	MAFB	Central heterochromia	HP:0007818
9935	MAFB	Camptodactyly of finger	HP:0100490
9935	MAFB	Arthralgia	HP:0002829
9935	MAFB	Aniridia	HP:0000526
9935	MAFB	Ulnar deviation of the hand	HP:0009487
9935	MAFB	Stenosis of the external auditory canal	HP:0000402
9935	MAFB	Palpebral fissure narrowing on adduction	HP:0000661
9935	MAFB	Sensorineural hearing impairment	HP:0000407
9935	MAFB	Preaxial hand polydactyly	HP:0001177
9935	MAFB	Polyhydramnios	HP:0001561
9935	MAFB	Downturned corners of mouth	HP:0002714
9935	MAFB	Slender long bone	HP:0003100
9935	MAFB	Hypopigmented skin patches	HP:0001053
9935	MAFB	Impaired ocular adduction	HP:0000542
9935	MAFB	Hypoplasia of the radius	HP:0002984
9935	MAFB	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
9935	MAFB	Abnormality of epiphysis morphology	HP:0005930
9935	MAFB	Osteopenia	HP:0000938
9935	MAFB	Triphalangeal thumb	HP:0001199
9935	MAFB	Wide nasal bridge	HP:0000431
9935	MAFB	Cleft palate	HP:0000175
9935	MAFB	Hypoplastic iris stroma	HP:0007990
9935	MAFB	Hypertension	HP:0000822
9935	MAFB	Chorioretinal coloboma	HP:0000567
9935	MAFB	Anorectal anomaly	HP:0012732
9935	MAFB	Metatarsal osteolysis	HP:0001473
9935	MAFB	Facial asymmetry	HP:0000324
9935	MAFB	Blepharophimosis	HP:0000581
9935	MAFB	Triangular face	HP:0000325
9935	MAFB	Hypoplasia of the maxilla	HP:0000327
9935	MAFB	Short palpebral fissure	HP:0012745
9935	MAFB	Wrist swelling	HP:0001225
9935	MAFB	Plagiocephaly	HP:0001357
9935	MAFB	Anteverted nares	HP:0000463
9935	MAFB	Webbed neck	HP:0000465
9935	MAFB	Renal insufficiency	HP:0000083
9935	MAFB	Optic disc hypoplasia	HP:0007766
9935	MAFB	Short neck	HP:0000470
9935	MAFB	Oculomotor nerve palsy	HP:0012246
9935	MAFB	Ectopic kidney	HP:0000086
9935	MAFB	Carpal osteolysis	HP:0001495
9935	MAFB	Abnormality of cardiovascular system morphology	HP:0030680
9935	MAFB	Osteolysis involving tarsal bones	HP:0006234
9935	MAFB	Micrognathia	HP:0000347
9935	MAFB	Proteinuria	HP:0000093
9935	MAFB	Limitation of joint mobility	HP:0001376
9935	MAFB	Metacarpal osteolysis	HP:0001504
9935	MAFB	Camptodactyly	HP:0012385
9935	MAFB	Pes cavus	HP:0001761
9935	MAFB	Seizures	HP:0001250
9935	MAFB	Spina bifida occulta	HP:0003298
9935	MAFB	Microcornea	HP:0000482
9935	MAFB	Talipes equinovarus	HP:0001762
9935	MAFB	Iris coloboma	HP:0000612
9935	MAFB	Patchy hypopigmentation of hair	HP:0011365
9935	MAFB	Strabismus	HP:0000486
9935	MAFB	Cachexia	HP:0004326
9935	MAFB	Abnormal pupil morphology	HP:0000615
9935	MAFB	Irregular hyperpigmentation	HP:0007400
9935	MAFB	Everted lower lip vermilion	HP:0000232
9935	MAFB	Deeply set eye	HP:0000490
9935	MAFB	Global developmental delay	HP:0001263
9935	MAFB	Abnormal form of the vertebral bodies	HP:0003312
9935	MAFB	Nephropathy	HP:0000112
9935	MAFB	Low posterior hairline	HP:0002162
9935	MAFB	Ankle swelling	HP:0001785
9935	MAFB	Impaired ocular abduction	HP:0000634
9935	MAFB	Narrow internal auditory canal	HP:0011386
9935	MAFB	Telecanthus	HP:0000506
9935	MAFB	Microcephaly	HP:0000252
9935	MAFB	External ear malformation	HP:0008572
9935	MAFB	Ptosis	HP:0000508
9935	MAFB	Nystagmus	HP:0000639
1747	DLX3	Amelogenesis imperfecta	HP:0000705
1747	DLX3	Abnormal hair quantity	HP:0011362
1747	DLX3	Autosomal dominant inheritance	HP:0000006
1747	DLX3	Periapical tooth abscess	HP:0030758
1747	DLX3	Taurodontia	HP:0000679
1747	DLX3	Abnormality of the mastoid	HP:0000264
1747	DLX3	Obliteration of the calvarial diploe	HP:0030312
1747	DLX3	Dolichocephaly	HP:0000268
1747	DLX3	Hypomineralization of enamel	HP:0006285
1747	DLX3	Widely spaced teeth	HP:0000687
1747	DLX3	Fragile nails	HP:0001808
1747	DLX3	Microdontia	HP:0000691
1747	DLX3	Finger clinodactyly	HP:0040019
1747	DLX3	Agenesis of incisor	HP:0006485
1747	DLX3	Frontal bossing	HP:0002007
1747	DLX3	Increased bone mineral density	HP:0011001
1747	DLX3	Dental enamel pits	HP:0009722
1747	DLX3	Abnormal hair morphology	HP:0001595
9939	RBM8A	Fused cervical vertebrae	HP:0002949
9939	RBM8A	Absent radius	HP:0003974
9939	RBM8A	Abnormal cardiac septum morphology	HP:0001671
9939	RBM8A	Autosomal recessive inheritance	HP:0000007
9939	RBM8A	Abnormality of coagulation	HP:0001928
9939	RBM8A	Hip dislocation	HP:0002827
9939	RBM8A	Delayed CNS myelination	HP:0002188
9939	RBM8A	Coarctation of aorta	HP:0001680
9939	RBM8A	Malar flattening	HP:0000272
9939	RBM8A	Sensorineural hearing impairment	HP:0000407
9939	RBM8A	Aplasia of the uterus	HP:0000151
9939	RBM8A	Hepatosplenomegaly	HP:0001433
9939	RBM8A	Genu varum	HP:0002970
9939	RBM8A	Seborrheic dermatitis	HP:0001051
9939	RBM8A	Adducted thumb	HP:0001181
9939	RBM8A	Broad thumb	HP:0011304
9939	RBM8A	Cerebellar hypoplasia	HP:0001321
9939	RBM8A	Patellar aplasia	HP:0006443
9939	RBM8A	Fibular aplasia	HP:0002990
9939	RBM8A	Cleft palate	HP:0000175
9939	RBM8A	Patellar dislocation	HP:0002999
9939	RBM8A	Edema of the dorsum of feet	HP:0012098
9939	RBM8A	Meckel diverticulum	HP:0002245
9939	RBM8A	Pancreatic cysts	HP:0001737
9939	RBM8A	Short phalanx of finger	HP:0009803
9939	RBM8A	Anteverted nares	HP:0000463
9939	RBM8A	Broad forehead	HP:0000337
9939	RBM8A	Thrombocytopenia	HP:0001873
9939	RBM8A	Horseshoe kidney	HP:0000085
9939	RBM8A	Finger syndactyly	HP:0006101
9939	RBM8A	Cavum septum pellucidum	HP:0002389
9939	RBM8A	Tibial torsion	HP:0100694
9939	RBM8A	Eosinophilia	HP:0001880
9939	RBM8A	Decreased antibody level in blood	HP:0004313
9939	RBM8A	Scoliosis	HP:0002650
9939	RBM8A	Edema of the dorsum of hands	HP:0007514
9939	RBM8A	Carpal bone hypoplasia	HP:0001498
9939	RBM8A	Micrognathia	HP:0000347
9939	RBM8A	High forehead	HP:0000348
9939	RBM8A	Ventricular septal defect	HP:0001629
9939	RBM8A	Aplasia/Hypoplasia of the ulna	HP:0006495
9939	RBM8A	Atrial septal defect	HP:0001631
9939	RBM8A	Intellectual disability	HP:0001249
9939	RBM8A	Aplasia/Hypoplasia of the patella	HP:0006498
9939	RBM8A	Seizures	HP:0001250
9939	RBM8A	Talipes equinovarus	HP:0001762
9939	RBM8A	Short stature	HP:0004322
9939	RBM8A	Abnormality of the shoulder	HP:0003043
9939	RBM8A	Tetralogy of Fallot	HP:0001636
9939	RBM8A	Phocomelia	HP:0009829
9939	RBM8A	Cow milk allergy	HP:0100327
9939	RBM8A	Carpal synostosis	HP:0009702
9939	RBM8A	Strabismus	HP:0000486
9939	RBM8A	Aplasia/hypoplasia of the humerus	HP:0006507
9939	RBM8A	Axial malrotation of the kidney	HP:0004717
9939	RBM8A	Spina bifida	HP:0002414
9939	RBM8A	Anemia	HP:0001903
9939	RBM8A	Global developmental delay	HP:0001263
9939	RBM8A	Low-set, posteriorly rotated ears	HP:0000368
9939	RBM8A	Clinodactyly of the 5th finger	HP:0004209
9939	RBM8A	Coxa valga	HP:0002673
9939	RBM8A	Bilateral radial aplasia	HP:0004977
9939	RBM8A	Death in infancy	HP:0001522
9939	RBM8A	Nevus flammeus of the forehead	HP:0007413
9939	RBM8A	Motor delay	HP:0001270
9939	RBM8A	Brachycephaly	HP:0000248
9939	RBM8A	Shoulder muscle hypoplasia	HP:0008952
9939	RBM8A	Cervical ribs	HP:0000891
9939	RBM8A	Ptosis	HP:0000508
9939	RBM8A	Lateral clavicle hook	HP:0000895
9940	DLEC1	Nausea and vomiting	HP:0002017
9940	DLEC1	Esophageal carcinoma	HP:0011459
9940	DLEC1	Abnormality of the voice	HP:0001608
9940	DLEC1	Feeding difficulties in infancy	HP:0008872
9940	DLEC1	Clinodactyly of the 5th toe	HP:0001864
9940	DLEC1	Lymphadenopathy	HP:0002716
9940	DLEC1	Chest pain	HP:0100749
9940	DLEC1	Cough	HP:0012735
1748	DLX4	High anterior hairline	HP:0009890
1748	DLX4	Ectropion of lower eyelids	HP:0007651
1748	DLX4	Upslanted palpebral fissure	HP:0000582
1748	DLX4	Autosomal dominant inheritance	HP:0000006
1748	DLX4	Euryblepharon	HP:0012905
1748	DLX4	Sparse eyelashes	HP:0000653
1748	DLX4	Hyponasal speech	HP:0100271
1748	DLX4	Bilateral cleft palate	HP:0100337
1748	DLX4	Low-set ears	HP:0000369
1748	DLX4	Bilateral cleft lip	HP:0100336
1748	DLX4	Sparse eyebrow	HP:0045075
1748	DLX4	Palate fistula	HP:0010294
1748	DLX4	Midface retrusion	HP:0011800
1748	DLX4	Agenesis of lateral incisor	HP:0200153
1748	DLX4	Single transverse palmar crease	HP:0000954
1748	DLX4	Protruding ear	HP:0000411
1748	DLX4	Hypertelorism	HP:0000316
1748	DLX4	Cryptorchidism	HP:0000028
1748	DLX4	Bulbous nose	HP:0000414
1748	DLX4	Epicanthus	HP:0000286
1749	DLX5	Absent hand	HP:0004050
1749	DLX5	Split hand	HP:0001171
1749	DLX5	Finger syndactyly	HP:0006101
1749	DLX5	Oligodactyly	HP:0012165
1749	DLX5	Severe short stature	HP:0003510
1749	DLX5	Sensorineural hearing impairment	HP:0000407
1749	DLX5	Autosomal recessive inheritance	HP:0000007
1749	DLX5	Scoliosis	HP:0002650
1749	DLX5	Abnormality of the nail	HP:0001597
1749	DLX5	Aniridia	HP:0000526
1749	DLX5	Tapered finger	HP:0001182
1749	DLX5	Split foot	HP:0001839
1750	DLX6	Absent hand	HP:0004050
1750	DLX6	Split hand	HP:0001171
1750	DLX6	Finger syndactyly	HP:0006101
1750	DLX6	Oligodactyly	HP:0012165
1750	DLX6	Sensorineural hearing impairment	HP:0000407
1750	DLX6	Aniridia	HP:0000526
116442	RAB39B	Macrocephaly	HP:0000256
116442	RAB39B	Intellectual disability	HP:0001249
116442	RAB39B	Poor speech	HP:0002465
116442	RAB39B	Seizures	HP:0001250
116442	RAB39B	Strabismus	HP:0000486
116442	RAB39B	X-linked recessive inheritance	HP:0001419
116442	RAB39B	Megalencephaly	HP:0001355
116442	RAB39B	Dolichocephaly	HP:0000268
116442	RAB39B	Dysarthria	HP:0001260
116442	RAB39B	Global developmental delay	HP:0001263
116442	RAB39B	Hyperactivity	HP:0000752
116442	RAB39B	Resting tremor	HP:0002322
116442	RAB39B	Bradykinesia	HP:0002067
116442	RAB39B	Long face	HP:0000276
116442	RAB39B	Parkinsonism	HP:0001300
116442	RAB39B	Dyskinesia	HP:0100660
116442	RAB39B	Dementia	HP:0000726
116442	RAB39B	Frontal bossing	HP:0002007
116442	RAB39B	Neurological speech impairment	HP:0002167
116442	RAB39B	Abnormality of movement	HP:0100022
116442	RAB39B	Shuffling gait	HP:0002362
116442	RAB39B	Lewy bodies	HP:0100315
116442	RAB39B	Cogwheel rigidity	HP:0002396
116442	RAB39B	Stereotypy	HP:0000733
1756	DMD	EMG abnormality	HP:0003457
1756	DMD	Skeletal muscle atrophy	HP:0003202
1756	DMD	X-linked inheritance	HP:0001417
1756	DMD	Generalized hypotonia	HP:0001290
1756	DMD	X-linked recessive inheritance	HP:0001419
1756	DMD	Toe walking	HP:0040083
1756	DMD	Calf muscle hypertrophy	HP:0008981
1756	DMD	Sensorineural hearing impairment	HP:0000407
1756	DMD	Arrhythmia	HP:0011675
1756	DMD	Elevated serum creatine kinase	HP:0003236
1756	DMD	Abnormal EKG	HP:0003115
1756	DMD	Muscle weakness	HP:0001324
1756	DMD	Respiratory insufficiency	HP:0002093
1756	DMD	Specific learning disability	HP:0001328
1756	DMD	Difficulty walking	HP:0002355
1756	DMD	Abnormal urinary color	HP:0012086
1756	DMD	Respiratory failure	HP:0002878
1756	DMD	Cognitive impairment	HP:0100543
1756	DMD	Gowers sign	HP:0003391
1756	DMD	Muscle spasm	HP:0003394
1756	DMD	Childhood onset	HP:0011463
1756	DMD	Abnormality of neutrophils	HP:0001874
1756	DMD	Waddling gait	HP:0002515
1756	DMD	Palmoplantar keratoderma	HP:0000982
1756	DMD	Exercise intolerance	HP:0003546
1756	DMD	Fatigue	HP:0012378
1756	DMD	Scoliosis	HP:0002650
1756	DMD	Flexion contracture	HP:0001371
1756	DMD	Elevated hepatic transaminase	HP:0002910
1756	DMD	Falls	HP:0002527
1756	DMD	Difficulty climbing stairs	HP:0003551
1756	DMD	Myoglobinuria	HP:0002913
1756	DMD	Intellectual disability	HP:0001249
1756	DMD	Lipoatrophy	HP:0100578
1756	DMD	Pes planus	HP:0001763
1756	DMD	Congestive heart failure	HP:0001635
1756	DMD	Muscular hypotonia	HP:0001252
1756	DMD	Cardiomyopathy	HP:0001638
1756	DMD	Hypoventilation	HP:0002791
1756	DMD	Muscular dystrophy	HP:0003560
1756	DMD	Intellectual disability, mild	HP:0001256
1756	DMD	Hyperlordosis	HP:0003307
1756	DMD	Dilated cardiomyopathy	HP:0001644
1756	DMD	Delayed speech and language development	HP:0000750
1756	DMD	Global developmental delay	HP:0001263
1756	DMD	Hyporeflexia	HP:0001265
1756	DMD	Proximal muscle weakness	HP:0003701
1756	DMD	Motor delay	HP:0001270
1756	DMD	Calf muscle pseudohypertrophy	HP:0003707
1756	DMD	Progressive muscle weakness	HP:0003323
1756	DMD	Adult onset	HP:0003581
1756	DMD	Myalgia	HP:0003326
1756	DMD	Myopathy	HP:0003198
91869	RFT1	Feeding difficulties	HP:0011968
91869	RFT1	Hepatomegaly	HP:0002240
91869	RFT1	Hyperreflexia	HP:0001347
91869	RFT1	Autosomal recessive inheritance	HP:0000007
91869	RFT1	Abnormality of coagulation	HP:0001928
91869	RFT1	Cerebral cortical atrophy	HP:0002120
91869	RFT1	Infantile onset	HP:0003593
91869	RFT1	Generalized hypotonia	HP:0001290
91869	RFT1	Pes valgus	HP:0008081
91869	RFT1	Short neck	HP:0000470
91869	RFT1	Sensorineural hearing impairment	HP:0000407
91869	RFT1	Abnormal isoelectric focusing of serum transferrin	HP:0003160
91869	RFT1	Micrognathia	HP:0000347
91869	RFT1	Adducted thumb	HP:0001181
91869	RFT1	Stroke-like episode	HP:0002401
91869	RFT1	Short stature	HP:0004322
91869	RFT1	Seizures	HP:0001250
91869	RFT1	Ataxia	HP:0001251
91869	RFT1	Failure to thrive	HP:0001508
91869	RFT1	Muscular hypotonia	HP:0001252
91869	RFT1	Abnormality of the posterior cranial fossa	HP:0000932
91869	RFT1	Abnormal bleeding	HP:0001892
91869	RFT1	Spasticity	HP:0001257
91869	RFT1	Bilateral basal ganglia lesions	HP:0007146
91869	RFT1	Hyperintensity of cerebral white matter on MRI	HP:0030890
91869	RFT1	Respiratory insufficiency	HP:0002093
91869	RFT1	Hearing impairment	HP:0000365
91869	RFT1	Global developmental delay	HP:0001263
91869	RFT1	Reduced visual acuity	HP:0007663
91869	RFT1	Intellectual disability, severe	HP:0010864
91869	RFT1	Inverted nipples	HP:0003186
91869	RFT1	Arthrogryposis multiplex congenita	HP:0002804
91869	RFT1	Myoclonus	HP:0001336
91869	RFT1	Abnormality of the coagulation cascade	HP:0003256
91869	RFT1	Abnormal thrombosis	HP:0001977
91869	RFT1	Visual impairment	HP:0000505
91869	RFT1	Microcephaly	HP:0000252
9949	AMMECR1	Bifid uvula	HP:0000193
9949	AMMECR1	Cataract	HP:0000518
9949	AMMECR1	Infantile onset	HP:0003593
9949	AMMECR1	X-linked recessive inheritance	HP:0001419
9949	AMMECR1	Anteverted nares	HP:0000463
9949	AMMECR1	Malar flattening	HP:0000272
9949	AMMECR1	Flat face	HP:0012368
9949	AMMECR1	Broad forehead	HP:0000337
9949	AMMECR1	Renal insufficiency	HP:0000083
9949	AMMECR1	Large forehead	HP:0002003
9949	AMMECR1	Glomerulopathy	HP:0100820
9949	AMMECR1	Sensorineural hearing impairment	HP:0000407
9949	AMMECR1	Midface retrusion	HP:0011800
9949	AMMECR1	Mixed hearing impairment	HP:0000410
9949	AMMECR1	Microscopic hematuria	HP:0002907
9949	AMMECR1	Micrognathia	HP:0000347
9949	AMMECR1	Thin upper lip vermilion	HP:0000219
9949	AMMECR1	Talipes	HP:0001883
9949	AMMECR1	Elliptocytosis	HP:0004445
9949	AMMECR1	Proteinuria	HP:0000093
9949	AMMECR1	Tapered finger	HP:0001182
9949	AMMECR1	Depressed nasal bridge	HP:0005280
9949	AMMECR1	Narrow mouth	HP:0000160
9949	AMMECR1	Myopia	HP:0000545
9949	AMMECR1	Intellectual disability	HP:0001249
9949	AMMECR1	Pes planus	HP:0001763
9949	AMMECR1	Muscular hypotonia	HP:0001252
9949	AMMECR1	Strabismus	HP:0000486
9949	AMMECR1	Hypercalciuria	HP:0002150
9949	AMMECR1	Dental crowding	HP:0000678
9949	AMMECR1	Thin vermilion border	HP:0000233
9949	AMMECR1	Patent ductus arteriosus	HP:0001643
9949	AMMECR1	Broad distal phalanx of finger	HP:0009836
9949	AMMECR1	Delayed eruption of teeth	HP:0000684
9949	AMMECR1	Hearing impairment	HP:0000365
9949	AMMECR1	Abnormal aortic valve morphology	HP:0001646
9949	AMMECR1	Downslanted palpebral fissures	HP:0000494
9949	AMMECR1	Renal dysplasia	HP:0000110
9949	AMMECR1	Anemia	HP:0001903
9949	AMMECR1	Cleft palate	HP:0000175
9949	AMMECR1	Abnormality of the metaphysis	HP:0000944
9949	AMMECR1	Intellectual disability, severe	HP:0010864
9949	AMMECR1	Clinodactyly of the 5th finger	HP:0004209
9949	AMMECR1	Esotropia	HP:0000565
9949	AMMECR1	Thick vermilion border	HP:0012471
9949	AMMECR1	Nephrocalcinosis	HP:0000121
9949	AMMECR1	Abnormal hair morphology	HP:0001595
9949	AMMECR1	Increased number of teeth	HP:0011069
1758	DMP1	Polyarticular arthritis	HP:0005764
1758	DMP1	Pseudo-fractures	HP:0100036
1758	DMP1	Autosomal recessive inheritance	HP:0000007
1758	DMP1	Enlargement of the wrists	HP:0003020
1758	DMP1	Lower limb asymmetry	HP:0100559
1758	DMP1	Enthesitis	HP:0100686
1758	DMP1	Elevated alkaline phosphatase of bone origin	HP:0010639
1758	DMP1	Craniosynostosis	HP:0001363
1758	DMP1	Low serum calcitriol	HP:0012052
1758	DMP1	Sensorineural hearing impairment	HP:0000407
1758	DMP1	Spinal canal stenosis	HP:0003416
1758	DMP1	Genu varum	HP:0002970
1758	DMP1	Renal hypophosphatemia	HP:0008732
1758	DMP1	Abnormality of renal excretion	HP:0011036
1758	DMP1	Skeletal dysplasia	HP:0002652
1758	DMP1	Bone pain	HP:0002653
1758	DMP1	Sclerotic vertebral endplates	HP:0004576
1758	DMP1	Short stature	HP:0004322
1758	DMP1	Hypophosphatemia	HP:0002148
1758	DMP1	Tooth abscess	HP:0030757
1758	DMP1	Hyperphosphaturia	HP:0003109
1758	DMP1	Tibial bowing	HP:0002982
1758	DMP1	Malabsorption	HP:0002024
1758	DMP1	Distal femoral bowing	HP:0005096
1758	DMP1	Delayed eruption of teeth	HP:0000684
1758	DMP1	Abnormality of the sacroiliac joint	HP:0100781
1758	DMP1	Hypophosphatemic rickets	HP:0004912
1758	DMP1	Renal phosphate wasting	HP:0000117
1758	DMP1	Increased bone mineral density	HP:0011001
1758	DMP1	Rickets	HP:0002748
1758	DMP1	Coxa vara	HP:0002812
1758	DMP1	Osteomalacia	HP:0002749
1758	DMP1	Abnormal trabecular bone morphology	HP:0100671
1758	DMP1	Rickets of the lower limbs	HP:0006463
1759	DNM1	Autosomal dominant inheritance	HP:0000006
1759	DNM1	Optic atrophy	HP:0000648
1759	DNM1	Generalized hypotonia	HP:0001290
1759	DNM1	Cerebral atrophy	HP:0002059
1759	DNM1	Unsteady gait	HP:0002317
1759	DNM1	Rigidity	HP:0002063
1759	DNM1	Encephalopathy	HP:0001298
1759	DNM1	Generalized tonic-clonic seizures	HP:0002069
1759	DNM1	Decreased fetal movement	HP:0001558
1759	DNM1	Hypodontia	HP:0000668
1759	DNM1	Abnormal myelination	HP:0012447
1759	DNM1	Retinal degeneration	HP:0000546
1759	DNM1	Personality disorder	HP:0012075
1759	DNM1	Difficulty walking	HP:0002355
1759	DNM1	Dyskinesia	HP:0100660
1759	DNM1	Myoclonus	HP:0001336
1759	DNM1	Tremor	HP:0001337
1759	DNM1	Abnormality of brainstem morphology	HP:0002363
1759	DNM1	EEG with focal sharp slow waves	HP:0011195
1759	DNM1	Focal-onset seizure	HP:0007359
1759	DNM1	Feeding difficulties	HP:0011968
1759	DNM1	Absent speech	HP:0001344
1759	DNM1	Generalized tonic seizures	HP:0010818
1759	DNM1	Atonic seizures	HP:0010819
1759	DNM1	Epileptic encephalopathy	HP:0200134
1759	DNM1	Developmental regression	HP:0002376
1759	DNM1	Generalized myoclonic seizures	HP:0002123
1759	DNM1	Limb hypertonia	HP:0002509
1759	DNM1	Autism	HP:0000717
1759	DNM1	Aggressive behavior	HP:0000718
1759	DNM1	Status epilepticus	HP:0002133
1759	DNM1	Autistic behavior	HP:0000729
1759	DNM1	Hypsarrhythmia	HP:0002521
1759	DNM1	High forehead	HP:0000348
1759	DNM1	EEG with multifocal slow activity	HP:0010844
1759	DNM1	Falls	HP:0002527
1759	DNM1	Intellectual disability	HP:0001249
1759	DNM1	Short stature	HP:0004322
1759	DNM1	Seizures	HP:0001250
1759	DNM1	Ataxia	HP:0001251
1759	DNM1	Gastroesophageal reflux	HP:0002020
1759	DNM1	Failure to thrive	HP:0001508
1759	DNM1	Atypical absence seizure	HP:0007270
1759	DNM1	Impulsivity	HP:0100710
1759	DNM1	Spasticity	HP:0001257
1759	DNM1	Attention deficit hyperactivity disorder	HP:0007018
1759	DNM1	Inability to walk	HP:0002540
1759	DNM1	Self-injurious behavior	HP:0100716
1759	DNM1	Downslanted palpebral fissures	HP:0000494
1759	DNM1	Delayed speech and language development	HP:0000750
1759	DNM1	Global developmental delay	HP:0001263
1759	DNM1	Hyperactivity	HP:0000752
1759	DNM1	Hyporeflexia	HP:0001265
1759	DNM1	Mental deterioration	HP:0001268
1759	DNM1	Poor head control	HP:0002421
1759	DNM1	Abnormality of vision	HP:0000504
1759	DNM1	Abnormal corpus callosum morphology	HP:0001273
1759	DNM1	Microcephaly	HP:0000252
1759	DNM1	Ptosis	HP:0000508
1759	DNM1	Nystagmus	HP:0000639
1760	DMPK	EMG abnormality	HP:0003457
1760	DMPK	Obsessive-compulsive trait	HP:0008770
1760	DMPK	Skeletal muscle atrophy	HP:0003202
1760	DMPK	Facial palsy	HP:0010628
1760	DMPK	Facial diplegia	HP:0001349
1760	DMPK	Autosomal dominant inheritance	HP:0000006
1760	DMPK	Cataract	HP:0000518
1760	DMPK	Hypogonadism	HP:0000135
1760	DMPK	Generalized hypotonia	HP:0001290
1760	DMPK	Cerebral atrophy	HP:0002059
1760	DMPK	Hernia of the abdominal wall	HP:0004299
1760	DMPK	Hip dislocation	HP:0002827
1760	DMPK	Atrial flutter	HP:0004749
1760	DMPK	Excessive daytime sleepiness	HP:0002189
1760	DMPK	Decreased fetal movement	HP:0001558
1760	DMPK	Abnormality of cardiovascular system morphology	HP:0030680
1760	DMPK	Polyhydramnios	HP:0001561
1760	DMPK	Cryptorchidism	HP:0000028
1760	DMPK	Testicular atrophy	HP:0000029
1760	DMPK	Dysphagia	HP:0002015
1760	DMPK	Abnormal hair quantity	HP:0011362
1760	DMPK	Muscular hypotonia	HP:0001252
1760	DMPK	Strabismus	HP:0000486
1760	DMPK	Intellectual disability, progressive	HP:0006887
1760	DMPK	Feeding difficulties in infancy	HP:0008872
1760	DMPK	Mask-like facies	HP:0000298
1760	DMPK	Muscle weakness	HP:0001324
1760	DMPK	Non-midline cleft lip	HP:0100335
1760	DMPK	Hydrocephalus	HP:0000238
1760	DMPK	Intellectual disability, severe	HP:0010864
1760	DMPK	Respiratory distress	HP:0002098
1760	DMPK	Abnormality of the endocrine system	HP:0000818
1760	DMPK	Frontal balding	HP:0002292
1760	DMPK	Atrial fibrillation	HP:0005110
1760	DMPK	Myotonia	HP:0002486
1760	DMPK	Abnormality of the upper urinary tract	HP:0010935
1760	DMPK	Cholelithiasis	HP:0001081
1760	DMPK	First degree atrioventricular block	HP:0011705
1760	DMPK	Hypertonia	HP:0001276
1761	DMRT1	Polycystic ovaries	HP:0000147
1761	DMRT1	Male pseudohermaphroditism	HP:0000037
1761	DMRT1	Testicular dysgenesis	HP:0008715
1761	DMRT1	Hypogonadotrophic hypogonadism	HP:0000044
1763	DNA2	Spinal cord compression	HP:0002176
1763	DNA2	Decreased facial expression	HP:0004673
1763	DNA2	Muscle spasm	HP:0003394
1763	DNA2	Facial palsy	HP:0010628
1763	DNA2	Autosomal dominant inheritance	HP:0000006
1763	DNA2	Autosomal recessive inheritance	HP:0000007
1763	DNA2	Gait disturbance	HP:0001288
1763	DNA2	Generalized hypotonia	HP:0001290
1763	DNA2	Elevated creatine kinase after exercise	HP:0008331
1763	DNA2	Multiple joint contractures	HP:0002828
1763	DNA2	Depressivity	HP:0000716
1763	DNA2	Decreased mitochondrial number	HP:0040013
1763	DNA2	Progressive external ophthalmoplegia	HP:0000590
1763	DNA2	Ectopic kidney	HP:0000086
1763	DNA2	Decreased fetal movement	HP:0001558
1763	DNA2	Mitochondrial myopathy	HP:0003737
1763	DNA2	Exercise intolerance	HP:0003546
1763	DNA2	Micrognathia	HP:0000347
1763	DNA2	Slow progression	HP:0003677
1763	DNA2	External ophthalmoplegia	HP:0000544
1763	DNA2	Intellectual disability	HP:0001249
1763	DNA2	Short stature	HP:0004322
1763	DNA2	Congenital ptosis	HP:0007970
1763	DNA2	Elevated serum creatine kinase	HP:0003236
1763	DNA2	Hyperlordosis	HP:0003307
1763	DNA2	Global developmental delay	HP:0001263
1763	DNA2	Difficulty walking	HP:0002355
1763	DNA2	Generalized amyotrophy	HP:0003700
1763	DNA2	Obstructive sleep apnea	HP:0002870
1763	DNA2	Exertional dyspnea	HP:0002875
1763	DNA2	Ptosis	HP:0000508
1763	DNA2	Microcephaly	HP:0000252
1763	DNA2	Convex nasal ridge	HP:0000444
1763	DNA2	Limb-girdle muscle weakness	HP:0003325
1763	DNA2	Slender build	HP:0001533
1763	DNA2	Myalgia	HP:0003326
1763	DNA2	Myopathy	HP:0003198
1763	DNA2	Gowers sign	HP:0003391
1763	DNA2	Kyphoscoliosis	HP:0002751
1767	DNAH5	Situs inversus totalis	HP:0001696
1767	DNAH5	Autosomal recessive inheritance	HP:0000007
1767	DNAH5	Ciliary dyskinesia	HP:0012265
1767	DNAH5	Recurrent respiratory infections	HP:0002205
1770	DNAH9	Situs inversus totalis	HP:0001696
1770	DNAH9	Infertility	HP:0000789
1770	DNAH9	Azoospermia	HP:0000027
116461	TSEN15	Intellectual disability	HP:0001249
116461	TSEN15	Seizures	HP:0001250
116461	TSEN15	Hyperreflexia	HP:0001347
116461	TSEN15	Strabismus	HP:0000486
116461	TSEN15	Autosomal recessive inheritance	HP:0000007
116461	TSEN15	Cerebral cortical atrophy	HP:0002120
116461	TSEN15	Spasticity	HP:0001257
116461	TSEN15	Generalized hypotonia	HP:0001290
116461	TSEN15	Inability to walk	HP:0002540
116461	TSEN15	Variable expressivity	HP:0003828
116461	TSEN15	Motor delay	HP:0001270
116461	TSEN15	Congenital onset	HP:0003577
116461	TSEN15	Progressive microcephaly	HP:0000253
116461	TSEN15	Babinski sign	HP:0003487
9966	TNFSF15	Hypoalbuminemia	HP:0003073
9966	TNFSF15	Portal hypertension	HP:0001409
9966	TNFSF15	Dermatographic urticaria	HP:0011971
9966	TNFSF15	Ascites	HP:0001541
9966	TNFSF15	Abdominal distention	HP:0003270
9966	TNFSF15	Elevated alkaline phosphatase	HP:0003155
9966	TNFSF15	Hepatitis	HP:0012115
9966	TNFSF15	Fatigue	HP:0012378
9966	TNFSF15	Conjugated hyperbilirubinemia	HP:0002908
9966	TNFSF15	Pruritus	HP:0000989
9966	TNFSF15	Abnormality of the intrahepatic bile duct	HP:0011040
9966	TNFSF15	Gastrointestinal inflammation	HP:0004386
9966	TNFSF15	Antinuclear antibody positivity	HP:0003493
9966	TNFSF15	Increased circulating IgM level	HP:0003496
9966	TNFSF15	Osteoporosis	HP:0000939
9966	TNFSF15	Onychomycosis	HP:0012203
9966	TNFSF15	Excessive daytime somnolence	HP:0001262
9966	TNFSF15	Abnormal circulating lipid concentration	HP:0003119
9966	TNFSF15	Celiac disease	HP:0002608
9966	TNFSF15	Cirrhosis	HP:0001394
9966	TNFSF15	Hepatic fibrosis	HP:0001395
9966	TNFSF15	Abnormality of the thyroid gland	HP:0000820
9966	TNFSF15	Biliary cirrhosis	HP:0002613
9966	TNFSF15	Hepatic failure	HP:0001399
9966	TNFSF15	Jaundice	HP:0000952
9966	TNFSF15	Hyperpigmentation of the skin	HP:0000953
9966	TNFSF15	Hepatocellular carcinoma	HP:0001402
9966	TNFSF15	Increased circulating IgA level	HP:0003261
9966	TNFSF15	Orthostatic hypotension	HP:0001278
1776	DNASE1L3	Hepatomegaly	HP:0002240
1776	DNASE1L3	Ascites	HP:0001541
1776	DNASE1L3	Meningitis	HP:0001287
1776	DNASE1L3	Autosomal recessive inheritance	HP:0000007
1776	DNASE1L3	Obstructive lung disease	HP:0006536
1776	DNASE1L3	Complement deficiency	HP:0004431
1776	DNASE1L3	Autoimmunity	HP:0002960
1776	DNASE1L3	Splenomegaly	HP:0001744
1776	DNASE1L3	Renal insufficiency	HP:0000083
1776	DNASE1L3	Glomerulopathy	HP:0100820
1776	DNASE1L3	Hematuria	HP:0000790
1776	DNASE1L3	Hemiplegia/hemiparesis	HP:0004374
1776	DNASE1L3	Sensorineural hearing impairment	HP:0000407
1776	DNASE1L3	Arthritis	HP:0001369
1776	DNASE1L3	Pleural effusion	HP:0002202
1776	DNASE1L3	Lymphadenopathy	HP:0002716
1776	DNASE1L3	Skin rash	HP:0000988
1776	DNASE1L3	Proteinuria	HP:0000093
1776	DNASE1L3	Pruritus	HP:0000989
1776	DNASE1L3	Joint dislocation	HP:0001373
1776	DNASE1L3	Diarrhea	HP:0002014
1776	DNASE1L3	Recurrent bacterial infections	HP:0002718
1776	DNASE1L3	Nausea and vomiting	HP:0002017
1776	DNASE1L3	Seizures	HP:0001250
1776	DNASE1L3	Pericardial effusion	HP:0001698
1776	DNASE1L3	Ataxia	HP:0001251
1776	DNASE1L3	Reduced tendon reflexes	HP:0001315
1776	DNASE1L3	Systemic lupus erythematosus	HP:0002725
1776	DNASE1L3	Immunologic hypersensitivity	HP:0100326
1776	DNASE1L3	Irregular hyperpigmentation	HP:0007400
1776	DNASE1L3	Cranial nerve paralysis	HP:0006824
1776	DNASE1L3	Small vessel vasculitis	HP:0011944
1776	DNASE1L3	Lymphoma	HP:0002665
1776	DNASE1L3	Uveitis	HP:0000554
1776	DNASE1L3	Abdominal pain	HP:0002027
1776	DNASE1L3	Restrictive ventilatory defect	HP:0002091
1776	DNASE1L3	Dyspnea	HP:0002094
1776	DNASE1L3	Emphysema	HP:0002097
1776	DNASE1L3	Cerebral palsy	HP:0100021
1776	DNASE1L3	Abnormal heart valve morphology	HP:0001654
1776	DNASE1L3	Episcleritis	HP:0100534
1776	DNASE1L3	Angioedema	HP:0100665
1776	DNASE1L3	Hemoptysis	HP:0002105
1776	DNASE1L3	Sensory neuropathy	HP:0000763
1776	DNASE1L3	Nephritis	HP:0000123
1776	DNASE1L3	Conjunctivitis	HP:0000509
1776	DNASE1L3	Myalgia	HP:0003326
1776	DNASE1L3	Cough	HP:0012735
9968	MED12	Macrocephaly	HP:0000256
9968	MED12	Joint contracture of the hand	HP:0009473
9968	MED12	Umbilical hernia	HP:0001537
9968	MED12	Microtia, first degree	HP:0011266
9968	MED12	Wide anterior fontanel	HP:0000260
9968	MED12	Intestinal malrotation	HP:0002566
9968	MED12	Anteriorly placed anus	HP:0001545
9968	MED12	Generalized hypotonia	HP:0001290
9968	MED12	Abnormality of the rib cage	HP:0001547
9968	MED12	Multiple joint contractures	HP:0002828
9968	MED12	Narrow face	HP:0000275
9968	MED12	Long face	HP:0000276
9968	MED12	Inguinal hernia	HP:0000023
9968	MED12	Coarse facial features	HP:0000280
9968	MED12	Cryptorchidism	HP:0000028
9968	MED12	Epicanthus	HP:0000286
9968	MED12	Facial wrinkling	HP:0009762
9968	MED12	Neonatal hypotonia	HP:0001319
9968	MED12	Broad thumb	HP:0011304
9968	MED12	Scrotal hypoplasia	HP:0000046
9968	MED12	Hypospadias	HP:0000047
9968	MED12	Macroorchidism	HP:0000053
9968	MED12	Partial agenesis of the corpus callosum	HP:0001338
9968	MED12	Hypertelorism	HP:0000316
9968	MED12	Joint hyperflexibility	HP:0005692
9968	MED12	Smooth philtrum	HP:0000319
9968	MED12	Short philtrum	HP:0000322
9968	MED12	Blepharophimosis	HP:0000581
9968	MED12	Broad hallux	HP:0010055
9968	MED12	Hypoplasia of the maxilla	HP:0000327
9968	MED12	Nasal speech	HP:0001611
9968	MED12	Plagiocephaly	HP:0001357
9968	MED12	High pitched voice	HP:0001620
9968	MED12	Long philtrum	HP:0000343
9968	MED12	Scoliosis	HP:0002650
9968	MED12	Abnormal heart morphology	HP:0001627
9968	MED12	Micrognathia	HP:0000347
9968	MED12	Flexion contracture	HP:0001371
9968	MED12	High forehead	HP:0000348
9968	MED12	Ventricular septal defect	HP:0001629
9968	MED12	Atrial septal defect	HP:0001631
9968	MED12	Abnormally folded helix	HP:0008544
9968	MED12	Camptodactyly	HP:0012385
9968	MED12	Joint hypermobility	HP:0001382
9968	MED12	Attention deficit hyperactivity disorder	HP:0007018
9968	MED12	Ascending tubular aorta aneurysm	HP:0004970
9968	MED12	Joint laxity	HP:0001388
9968	MED12	Hearing impairment	HP:0000365
9968	MED12	Skin tags	HP:0010609
9968	MED12	Low-set ears	HP:0000369
9968	MED12	Postnatal macrocephaly	HP:0005490
9968	MED12	Long nose	HP:0003189
9968	MED12	Neurological speech impairment	HP:0002167
9968	MED12	Abnormality of the genitourinary system	HP:0000119
9968	MED12	Lumbar hyperlordosis	HP:0002938
9968	MED12	Clinodactyly	HP:0030084
9968	MED12	Brachydactyly	HP:0001156
9968	MED12	Sparse hair	HP:0008070
9968	MED12	Syndactyly	HP:0001159
9968	MED12	X-linked recessive inheritance	HP:0001419
9968	MED12	Camptodactyly of finger	HP:0100490
9968	MED12	Arachnodactyly	HP:0001166
9968	MED12	Schizophrenia	HP:0100753
9968	MED12	Split hand	HP:0001171
9968	MED12	Sensorineural hearing impairment	HP:0000407
9968	MED12	Wide mouth	HP:0000154
9968	MED12	Protruding ear	HP:0000411
9968	MED12	Bulbous nose	HP:0000414
9968	MED12	Narrow mouth	HP:0000160
9968	MED12	Depressed nasal bridge	HP:0005280
9968	MED12	Fine hair	HP:0002213
9968	MED12	Dental crowding	HP:0000678
9968	MED12	Prominent nasal bridge	HP:0000426
9968	MED12	Cleft palate	HP:0000175
9968	MED12	Wide nasal bridge	HP:0000431
9968	MED12	Thick lower lip vermilion	HP:0000179
9968	MED12	Single transverse palmar crease	HP:0000954
9968	MED12	Prominent fingertip pads	HP:0001212
9968	MED12	Frontal upsweep of hair	HP:0002236
9968	MED12	Narrow palate	HP:0000189
9968	MED12	Cafe-au-lait spot	HP:0000957
9968	MED12	Narrow nasal bridge	HP:0000446
9968	MED12	Sacral dimple	HP:0000960
9968	MED12	Prominent nose	HP:0000448
9968	MED12	Feeding difficulties	HP:0011968
9968	MED12	Open mouth	HP:0000194
9968	MED12	Delayed closure of the anterior fontanelle	HP:0001476
9968	MED12	Choanal atresia	HP:0000453
9968	MED12	Psychosis	HP:0000709
9968	MED12	Emotional lability	HP:0000712
9968	MED12	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
9968	MED12	Abnormality of the nasopharynx	HP:0001739
9968	MED12	Cleft upper lip	HP:0000204
9968	MED12	Autism	HP:0000717
9968	MED12	Aggressive behavior	HP:0000718
9968	MED12	Obsessive-compulsive behavior	HP:0000722
9968	MED12	Deep philtrum	HP:0002002
9968	MED12	Prominent forehead	HP:0011220
9968	MED12	Short neck	HP:0000470
9968	MED12	Frontal bossing	HP:0002007
9968	MED12	High palate	HP:0000218
9968	MED12	Thin upper lip vermilion	HP:0000219
9968	MED12	Impaired social interactions	HP:0000735
9968	MED12	Intellectual disability	HP:0001249
9968	MED12	Seizures	HP:0001250
9968	MED12	Short stature	HP:0004322
9968	MED12	Hallucinations	HP:0000738
9968	MED12	Constipation	HP:0002019
9968	MED12	Muscular hypotonia	HP:0001252
9968	MED12	Pyloric stenosis	HP:0002021
9968	MED12	Decreased body weight	HP:0004325
9968	MED12	Strabismus	HP:0000486
9968	MED12	Anal atresia	HP:0002023
9968	MED12	Low frustration tolerance	HP:0000744
9968	MED12	Anal stenosis	HP:0002025
9968	MED12	Thin vermilion border	HP:0000233
9968	MED12	Gray matter heterotopia	HP:0002282
9968	MED12	Hydrocephalus	HP:0000238
9968	MED12	Downslanted palpebral fissures	HP:0000494
9968	MED12	Global developmental delay	HP:0001263
9968	MED12	Disproportionate tall stature	HP:0001519
9968	MED12	Hyperactivity	HP:0000752
9968	MED12	Motor delay	HP:0001270
9968	MED12	Brachycephaly	HP:0000248
9968	MED12	Radial deviation of finger	HP:0009466
9968	MED12	Agenesis of corpus callosum	HP:0001274
9968	MED12	Ptosis	HP:0000508
9968	MED12	Abnormality of the sternum	HP:0000766
9968	MED12	Pectus excavatum	HP:0000767
83696	TRAPPC9	Delayed ability to walk	HP:0031936
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	Downturned corners of mouth	HP:0002714
83696	TRAPPC9	Congenital stationary night blindness	HP:0007642
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	Hypertelorism	HP:0000316
83696	TRAPPC9	Microcephaly	HP:0000252
83696	TRAPPC9	Malignant hyperthermia	HP:0002047
83696	TRAPPC9	Smooth philtrum	HP:0000319
26353	HSPB8	Pes cavus	HP:0001761
26353	HSPB8	Areflexia	HP:0001284
26353	HSPB8	Autosomal dominant inheritance	HP:0000006
26353	HSPB8	Decreased amplitude of sensory action potentials	HP:0007078
26353	HSPB8	Hyporeflexia of lower limbs	HP:0002600
26353	HSPB8	Paresis of extensor muscles of the big toe	HP:0002601
26353	HSPB8	Distal amyotrophy	HP:0003693
26353	HSPB8	Paralysis	HP:0003470
26353	HSPB8	Heterogeneous	HP:0001425
26353	HSPB8	Hyporeflexia	HP:0001265
26353	HSPB8	EMG: chronic denervation signs	HP:0003444
26353	HSPB8	EMG: neuropathic changes	HP:0003445
26353	HSPB8	Peripheral axonal neuropathy	HP:0003477
26353	HSPB8	Distal sensory impairment	HP:0002936
26353	HSPB8	Areflexia of lower limbs	HP:0002522
26353	HSPB8	Scoliosis	HP:0002650
26353	HSPB8	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
26353	HSPB8	Distal muscle weakness	HP:0002460
26353	HSPB8	Distal lower limb muscle weakness	HP:0009053
1778	DYNC1H1	Delayed ability to walk	HP:0031936
1778	DYNC1H1	Autosomal dominant inheritance	HP:0000006
1778	DYNC1H1	Childhood onset	HP:0011463
1778	DYNC1H1	Gait disturbance	HP:0001288
1778	DYNC1H1	Plagiocephaly	HP:0001357
1778	DYNC1H1	Spastic tetraplegia	HP:0002510
1778	DYNC1H1	Abnormal facial shape	HP:0001999
1778	DYNC1H1	Sensory impairment	HP:0003474
1778	DYNC1H1	Waddling gait	HP:0002515
1778	DYNC1H1	Prominent forehead	HP:0011220
1778	DYNC1H1	Peripheral axonal neuropathy	HP:0003477
1778	DYNC1H1	Difficulty running	HP:0009046
1778	DYNC1H1	Pachygyria	HP:0001302
1778	DYNC1H1	Distal muscle weakness	HP:0002460
1778	DYNC1H1	Slow progression	HP:0003677
1778	DYNC1H1	Falls	HP:0002527
1778	DYNC1H1	Hypoplasia of the corpus callosum	HP:0002079
1778	DYNC1H1	Abnormality of the foot	HP:0001760
1778	DYNC1H1	Decreased patellar reflex	HP:0011808
1778	DYNC1H1	Pes cavus	HP:0001761
1778	DYNC1H1	Intellectual disability	HP:0001249
1778	DYNC1H1	Proximal muscle weakness in lower limbs	HP:0008994
1778	DYNC1H1	Muscular hypotonia	HP:0001252
1778	DYNC1H1	Spinal muscular atrophy	HP:0007269
1778	DYNC1H1	Decreased motor nerve conduction velocity	HP:0003431
1778	DYNC1H1	Cerebellar hypoplasia	HP:0001321
1778	DYNC1H1	Limb muscle weakness	HP:0003690
1778	DYNC1H1	Type 2 muscle fiber predominance	HP:0010602
1778	DYNC1H1	Downslanted palpebral fissures	HP:0000494
1778	DYNC1H1	Global developmental delay	HP:0001263
1778	DYNC1H1	Hyporeflexia	HP:0001265
1778	DYNC1H1	Small hand	HP:0200055
1778	DYNC1H1	EMG: neuropathic changes	HP:0003445
1778	DYNC1H1	Motor delay	HP:0001270
1778	DYNC1H1	Frequent falls	HP:0002359
1778	DYNC1H1	Distal sensory impairment	HP:0002936
1778	DYNC1H1	Microcephaly	HP:0000252
1778	DYNC1H1	Proximal lower limb amyotrophy	HP:0008956
1778	DYNC1H1	Hypoplasia of the brainstem	HP:0002365
1778	DYNC1H1	Focal-onset seizure	HP:0007359
9971	NR1H4	Cirrhosis	HP:0001394
9971	NR1H4	Hyperammonemia	HP:0001987
9971	NR1H4	Failure to thrive	HP:0001508
9971	NR1H4	Autosomal recessive inheritance	HP:0000007
9971	NR1H4	Prolonged prothrombin time	HP:0008151
9971	NR1H4	Hypoglycemia	HP:0001943
9971	NR1H4	Hepatic failure	HP:0001399
9971	NR1H4	Jaundice	HP:0000952
9971	NR1H4	Edema	HP:0000969
9971	NR1H4	Elevated hepatic transaminase	HP:0002910
9971	NR1H4	Rapidly progressive	HP:0003678
149233	IL23R	Abnormal blistering of the skin	HP:0008066
149233	IL23R	Avascular necrosis	HP:0010885
149233	IL23R	Cataract	HP:0000518
149233	IL23R	Myositis	HP:0100614
149233	IL23R	Meningitis	HP:0001287
149233	IL23R	Gait disturbance	HP:0001288
149233	IL23R	Confusion	HP:0001289
149233	IL23R	Arthralgia	HP:0002829
149233	IL23R	Vertigo	HP:0002321
149233	IL23R	Gangrene	HP:0100758
149233	IL23R	Fever	HP:0001945
149233	IL23R	Pleural effusion	HP:0002202
149233	IL23R	Oral ulcer	HP:0000155
149233	IL23R	Lymphadenopathy	HP:0002716
149233	IL23R	Pulmonary embolism	HP:0002204
149233	IL23R	Migraine	HP:0002076
149233	IL23R	Weight loss	HP:0001824
149233	IL23R	Acne	HP:0001061
149233	IL23R	Pericarditis	HP:0001701
149233	IL23R	Cranial nerve paralysis	HP:0006824
149233	IL23R	Retrobulbar optic neuritis	HP:0100654
149233	IL23R	Memory impairment	HP:0002354
149233	IL23R	Pleuritis	HP:0002102
149233	IL23R	Hemoptysis	HP:0002105
149233	IL23R	Orchitis	HP:0100796
149233	IL23R	Gastrointestinal hemorrhage	HP:0002239
149233	IL23R	Pulmonary infiltrates	HP:0002113
149233	IL23R	Hyperreflexia	HP:0001347
149233	IL23R	Arterial thrombosis	HP:0004420
149233	IL23R	Pancreatitis	HP:0001733
149233	IL23R	Venous thrombosis	HP:0004936
149233	IL23R	Developmental regression	HP:0002376
149233	IL23R	Vasculitis	HP:0002633
149233	IL23R	Paresthesia	HP:0003401
149233	IL23R	Keratoconjunctivitis sicca	HP:0001097
149233	IL23R	Subcutaneous nodule	HP:0001482
149233	IL23R	Cerebral ischemia	HP:0002637
149233	IL23R	Encephalitis	HP:0002383
149233	IL23R	Splenomegaly	HP:0001744
149233	IL23R	Renal insufficiency	HP:0000083
149233	IL23R	Increased intracranial pressure	HP:0002516
149233	IL23R	Glomerulopathy	HP:0100820
149233	IL23R	Abnormal pyramidal sign	HP:0007256
149233	IL23R	Arthritis	HP:0001369
149233	IL23R	Fatigue	HP:0012378
149233	IL23R	Irritability	HP:0000737
149233	IL23R	Nausea and vomiting	HP:0002017
149233	IL23R	Papule	HP:0200034
149233	IL23R	Seizures	HP:0001250
149233	IL23R	Recurrent aphthous stomatitis	HP:0011107
149233	IL23R	Ataxia	HP:0001251
149233	IL23R	Abnormal myocardium morphology	HP:0001637
149233	IL23R	Photophobia	HP:0000613
149233	IL23R	Immunologic hypersensitivity	HP:0100326
149233	IL23R	Malabsorption	HP:0002024
149233	IL23R	Retinopathy	HP:0000488
149233	IL23R	Endocarditis	HP:0100584
149233	IL23R	Blindness	HP:0000618
149233	IL23R	Abdominal pain	HP:0002027
149233	IL23R	Mitral regurgitation	HP:0001653
149233	IL23R	Hemiparesis	HP:0001269
149233	IL23R	Anorexia	HP:0002039
149233	IL23R	Myocardial infarction	HP:0001658
149233	IL23R	Aortic regurgitation	HP:0001659
149233	IL23R	Myalgia	HP:0003326
83700	JAM3	Hepatomegaly	HP:0002240
83700	JAM3	Cystic renal dysplasia	HP:0000800
83700	JAM3	Seizures	HP:0001250
83700	JAM3	Hyperreflexia	HP:0001347
83700	JAM3	Cataract	HP:0000518
83700	JAM3	Ventriculomegaly	HP:0002119
83700	JAM3	Autosomal recessive inheritance	HP:0000007
83700	JAM3	Cerebellar hypoplasia	HP:0001321
83700	JAM3	Spasticity	HP:0001257
83700	JAM3	Postnatal microcephaly	HP:0005484
83700	JAM3	Global developmental delay	HP:0001263
83700	JAM3	Ectopic kidney	HP:0000086
83700	JAM3	Congenital onset	HP:0003577
83700	JAM3	Cryptorchidism	HP:0000028
50937	CDON	EMG: myopathic abnormalities	HP:0003458
50937	CDON	Hemangioma	HP:0001028
50937	CDON	Autosomal dominant inheritance	HP:0000006
50937	CDON	Proptosis	HP:0000520
50937	CDON	Primary amenorrhea	HP:0000786
50937	CDON	Midnasal stenosis	HP:0010644
50937	CDON	Hypoglycemia	HP:0001943
50937	CDON	Synophrys	HP:0000664
50937	CDON	Cryptorchidism	HP:0000028
50937	CDON	Hypoplasia of penis	HP:0008736
50937	CDON	Sporadic	HP:0003745
50937	CDON	Cleft lip	HP:0410030
50937	CDON	Single median maxillary incisor	HP:0006315
50937	CDON	Cleft palate	HP:0000175
50937	CDON	Asthma	HP:0002099
50937	CDON	Tented upper lip vermilion	HP:0010804
50937	CDON	Hypothyroidism	HP:0000821
50937	CDON	Delayed puberty	HP:0000823
50937	CDON	Cyclopia	HP:0009914
50937	CDON	Thick eyebrow	HP:0000574
50937	CDON	Narrow nasal bridge	HP:0000446
50937	CDON	Ambiguous genitalia	HP:0000062
50937	CDON	Short philtrum	HP:0000322
50937	CDON	Adrenal hypoplasia	HP:0000835
50937	CDON	Choanal atresia	HP:0000453
50937	CDON	Duodenal atresia	HP:0002247
50937	CDON	Maternal diabetes	HP:0009800
50937	CDON	Anteverted nares	HP:0000463
50937	CDON	Holoprosencephaly	HP:0001360
50937	CDON	Polysplenia	HP:0001748
50937	CDON	Premature birth	HP:0001622
50937	CDON	Hypotelorism	HP:0000601
50937	CDON	Scoliosis	HP:0002650
50937	CDON	Intellectual disability	HP:0001249
50937	CDON	Short stature	HP:0004322
50937	CDON	Seizures	HP:0001250
50937	CDON	Iris coloboma	HP:0000612
50937	CDON	Tetralogy of Fallot	HP:0001636
50937	CDON	Failure to thrive	HP:0001508
50937	CDON	Strabismus	HP:0000486
50937	CDON	Panhypopituitarism	HP:0000871
50937	CDON	Intrauterine growth retardation	HP:0001511
50937	CDON	Renal agenesis	HP:0000104
50937	CDON	Diabetes insipidus	HP:0000873
50937	CDON	Septo-optic dysplasia	HP:0100842
50937	CDON	Ectopic posterior pituitary	HP:0011755
50937	CDON	Global developmental delay	HP:0001263
50937	CDON	Death in infancy	HP:0001522
50937	CDON	Variable expressivity	HP:0003828
50937	CDON	Agenesis of corpus callosum	HP:0001274
50937	CDON	Microcephaly	HP:0000252
50937	CDON	Short nose	HP:0003196
1785	DNM2	Skeletal muscle hypertrophy	HP:0003712
1785	DNM2	EMG: myopathic abnormalities	HP:0003458
1785	DNM2	Areflexia	HP:0001284
1785	DNM2	Facial palsy	HP:0010628
1785	DNM2	Autosomal dominant inheritance	HP:0000006
1785	DNM2	Autosomal recessive inheritance	HP:0000007
1785	DNM2	Macrocephaly at birth	HP:0004488
1785	DNM2	Generalized hypotonia	HP:0001290
1785	DNM2	Axonal degeneration	HP:0040078
1785	DNM2	Heterogeneous	HP:0001425
1785	DNM2	Delayed gross motor development	HP:0002194
1785	DNM2	Urinary incontinence	HP:0000020
1785	DNM2	Spontaneous abortion	HP:0005268
1785	DNM2	Peripheral axonal neuropathy	HP:0003477
1785	DNM2	Calf muscle hypertrophy	HP:0008981
1785	DNM2	Decreased fetal movement	HP:0001558
1785	DNM2	Cavernous hemangioma	HP:0001048
1785	DNM2	Polyhydramnios	HP:0001561
1785	DNM2	Segmental peripheral demyelination/remyelination	HP:0003481
1785	DNM2	Exercise-induced myalgia	HP:0003738
1785	DNM2	Distal muscle weakness	HP:0002460
1785	DNM2	Cryptorchidism	HP:0000028
1785	DNM2	Abnormality of the foot musculature	HP:0001436
1785	DNM2	External ophthalmoplegia	HP:0000544
1785	DNM2	Proximal muscle weakness in lower limbs	HP:0008994
1785	DNM2	Elevated serum creatine kinase	HP:0003236
1785	DNM2	Juvenile onset	HP:0003621
1785	DNM2	Proximal muscle weakness in upper limbs	HP:0008997
1785	DNM2	Respiratory insufficiency	HP:0002093
1785	DNM2	Muscle fibrillation	HP:0010546
1785	DNM2	Difficulty walking	HP:0002355
1785	DNM2	Decreased number of peripheral myelinated nerve fibers	HP:0003380
1785	DNM2	Onion bulb formation	HP:0003383
1785	DNM2	Respiratory insufficiency due to muscle weakness	HP:0002747
1785	DNM2	Easy fatigability	HP:0003388
1785	DNM2	Retinal hemorrhage	HP:0000573
1785	DNM2	Segmental peripheral demyelination	HP:0007107
1785	DNM2	Sleepy facial expression	HP:0005335
1785	DNM2	Areflexia of lower limbs	HP:0002522
1785	DNM2	Flexion contracture	HP:0001371
1785	DNM2	Type 1 muscle fiber predominance	HP:0003803
1785	DNM2	Slow progression	HP:0003677
1785	DNM2	Neonatal asphyxia	HP:0012768
1785	DNM2	Pes cavus	HP:0001761
1785	DNM2	Pyloric stenosis	HP:0002021
1785	DNM2	Centrally nucleated skeletal muscle fibers	HP:0003687
1785	DNM2	Hyperlordosis	HP:0003307
1785	DNM2	Distal amyotrophy	HP:0003693
1785	DNM2	Small for gestational age	HP:0001518
1785	DNM2	Large for gestational age	HP:0001520
1785	DNM2	Hyporeflexia	HP:0001265
1785	DNM2	Death in infancy	HP:0001522
1785	DNM2	Thin ribs	HP:0000883
1785	DNM2	Congenital contracture	HP:0002803
1785	DNM2	Mildly elevated creatine kinase	HP:0008180
1785	DNM2	Proximal muscle weakness	HP:0003701
1785	DNM2	Motor delay	HP:0001270
1785	DNM2	Distal sensory impairment	HP:0002936
1785	DNM2	Congenital onset	HP:0003577
1785	DNM2	Decreased nerve conduction velocity	HP:0000762
1785	DNM2	Peripheral axonal degeneration	HP:0000764
1785	DNM2	Ptosis	HP:0000508
1785	DNM2	Malignant hyperthermia	HP:0002047
255738	PCSK9	Precocious atherosclerosis	HP:0004416
255738	PCSK9	Renal artery stenosis	HP:0001920
255738	PCSK9	Heart murmur	HP:0030148
255738	PCSK9	Increased LDL cholesterol concentration	HP:0003141
255738	PCSK9	Hyperlipidemia	HP:0003077
255738	PCSK9	Autosomal dominant inheritance	HP:0000006
255738	PCSK9	Arthralgia	HP:0002829
255738	PCSK9	Angina pectoris	HP:0001681
255738	PCSK9	Abnormal internal carotid artery morphology	HP:3000062
255738	PCSK9	Abnormal eye physiology	HP:0012373
255738	PCSK9	Peripheral arterial stenosis	HP:0004950
255738	PCSK9	Supravalvular aortic stenosis	HP:0004381
255738	PCSK9	Abnormality of nervous system physiology	HP:0012638
255738	PCSK9	Renal steatosis	HP:0000799
255738	PCSK9	Cerebral artery atherosclerosis	HP:0007201
255738	PCSK9	Coronary artery aneurysm	HP:0030882
255738	PCSK9	Calcification of the aorta	HP:0004963
255738	PCSK9	Myocardial steatosis	HP:0006693
255738	PCSK9	Left ventricular dysfunction	HP:0005162
255738	PCSK9	Sudden cardiac death	HP:0001645
255738	PCSK9	Aortic atherosclerotic lesion	HP:0012397
255738	PCSK9	Dyspnea	HP:0002094
255738	PCSK9	Optic neuropathy	HP:0001138
255738	PCSK9	Hypercholesterolemia	HP:0003124
255738	PCSK9	Hepatic steatosis	HP:0001397
255738	PCSK9	Mitral regurgitation	HP:0001653
255738	PCSK9	Hypertension	HP:0000822
255738	PCSK9	Premature arteriosclerosis	HP:0005177
255738	PCSK9	Myocardial infarction	HP:0001658
255738	PCSK9	Tendon xanthomatosis	HP:0010874
255738	PCSK9	Premature coronary artery atherosclerosis	HP:0005181
1786	DNMT1	Osteomyelitis	HP:0002754
1786	DNMT1	Hyperreflexia	HP:0001347
1786	DNMT1	Abnormality of the cerebral white matter	HP:0002500
1786	DNMT1	Psychosis	HP:0000709
1786	DNMT1	Autosomal dominant inheritance	HP:0000006
1786	DNMT1	Atrophy/Degeneration affecting the brainstem	HP:0007366
1786	DNMT1	Cataract	HP:0000518
1786	DNMT1	Optic atrophy	HP:0000648
1786	DNMT1	Cerebral atrophy	HP:0002059
1786	DNMT1	Depressivity	HP:0000716
1786	DNMT1	Excessive daytime sleepiness	HP:0002189
1786	DNMT1	Resting tremor	HP:0002322
1786	DNMT1	Urinary incontinence	HP:0000020
1786	DNMT1	Dementia	HP:0000726
1786	DNMT1	Sensorineural hearing impairment	HP:0000407
1786	DNMT1	Abnormality of mitochondrial metabolism	HP:0003287
1786	DNMT1	Pseudobulbar signs	HP:0002200
1786	DNMT1	Delirium	HP:0031258
1786	DNMT1	Progressive	HP:0003676
1786	DNMT1	Cataplexy	HP:0002524
1786	DNMT1	Predominantly lower limb lymphedema	HP:0003550
1786	DNMT1	Babinski sign	HP:0003487
1786	DNMT1	Neuronal loss in central nervous system	HP:0002529
1786	DNMT1	Irritability	HP:0000737
1786	DNMT1	Narcolepsy	HP:0030050
1786	DNMT1	Ataxia	HP:0001251
1786	DNMT1	Apathy	HP:0000741
1786	DNMT1	Impulsivity	HP:0100710
1786	DNMT1	Spasticity	HP:0001257
1786	DNMT1	Abnormality of the cerebrospinal fluid	HP:0002921
1786	DNMT1	Head tremor	HP:0002346
1786	DNMT1	Dilated third ventricle	HP:0007082
1786	DNMT1	Primitive reflex	HP:0002476
1786	DNMT1	Excessive daytime somnolence	HP:0001262
1786	DNMT1	Hyporeflexia	HP:0001265
1786	DNMT1	Memory impairment	HP:0002354
1786	DNMT1	Mental deterioration	HP:0001268
1786	DNMT1	Decreased number of peripheral myelinated nerve fibers	HP:0003380
1786	DNMT1	Cerebellar atrophy	HP:0001272
1786	DNMT1	Sensory neuropathy	HP:0000763
1786	DNMT1	Adult onset	HP:0003581
1786	DNMT1	Nystagmus	HP:0000639
50939	IMPG2	Abnormal electroretinogram	HP:0000512
50939	IMPG2	Hyperreflexia	HP:0001347
50939	IMPG2	Pigmentary retinopathy	HP:0000580
50939	IMPG2	Cataract	HP:0000518
50939	IMPG2	Autosomal dominant inheritance	HP:0000006
50939	IMPG2	Autosomal recessive inheritance	HP:0000007
50939	IMPG2	Hypogonadism	HP:0000135
50939	IMPG2	Optic atrophy	HP:0000648
50939	IMPG2	Hyperinsulinemia	HP:0000842
50939	IMPG2	Macular dystrophy	HP:0007754
50939	IMPG2	Anteverted nares	HP:0000463
50939	IMPG2	Conductive hearing impairment	HP:0000405
50939	IMPG2	Nyctalopia	HP:0000662
50939	IMPG2	Sensorineural hearing impairment	HP:0000407
50939	IMPG2	Abnormality of retinal pigmentation	HP:0007703
50939	IMPG2	Ophthalmoplegia	HP:0000602
50939	IMPG2	Type II diabetes mellitus	HP:0005978
50939	IMPG2	Atypical scarring of skin	HP:0000987
50939	IMPG2	Central scotoma	HP:0000603
50939	IMPG2	Retinal nonattachment	HP:0007899
50939	IMPG2	Hypoplasia of penis	HP:0008736
50939	IMPG2	Intellectual disability	HP:0001249
50939	IMPG2	Abnormal testis morphology	HP:0000035
50939	IMPG2	Visual field defect	HP:0001123
50939	IMPG2	Photophobia	HP:0000613
50939	IMPG2	Color vision defect	HP:0000551
50939	IMPG2	Obesity	HP:0001513
50939	IMPG2	Blindness	HP:0000618
50939	IMPG2	Posterior subcapsular cataract	HP:0007787
50939	IMPG2	Abnormal retinal vascular morphology	HP:0008046
50939	IMPG2	Reduced visual acuity	HP:0007663
50939	IMPG2	Wide nasal bridge	HP:0000431
50939	IMPG2	Iris hypopigmentation	HP:0007730
50939	IMPG2	Keratoconus	HP:0000563
50939	IMPG2	Moderately reduced visual acuity	HP:0030515
50939	IMPG2	Choroideremia	HP:0001139
50939	IMPG2	Glaucoma	HP:0000501
50939	IMPG2	Progressive night blindness	HP:0007675
50939	IMPG2	Vitelliform-like macular lesions	HP:0007677
50939	IMPG2	Rod-cone dystrophy	HP:0000510
50939	IMPG2	Nystagmus	HP:0000639
83706	FERMT3	Hepatomegaly	HP:0002240
83706	FERMT3	Epistaxis	HP:0000421
83706	FERMT3	Petechiae	HP:0000967
83706	FERMT3	Autosomal recessive inheritance	HP:0000007
83706	FERMT3	Sepsis	HP:0100806
83706	FERMT3	Infantile onset	HP:0003593
83706	FERMT3	Subcutaneous nodule	HP:0001482
83706	FERMT3	Abnormality of the lymph nodes	HP:0002733
83706	FERMT3	Recurrent skin infections	HP:0001581
83706	FERMT3	Anemia	HP:0001903
83706	FERMT3	Abnormal thrombocyte morphology	HP:0001872
83706	FERMT3	Splenomegaly	HP:0001744
83706	FERMT3	Pain	HP:0012531
83706	FERMT3	Leukocytosis	HP:0001974
83706	FERMT3	Hepatosplenomegaly	HP:0001433
83706	FERMT3	Extramedullary hematopoiesis	HP:0001978
83706	FERMT3	Osteopetrosis	HP:0011002
83706	FERMT3	Recurrent bacterial infections	HP:0002718
1788	DNMT3A	Macrocephaly	HP:0000256
1788	DNMT3A	Intellectual disability	HP:0001249
1788	DNMT3A	Umbilical hernia	HP:0001537
1788	DNMT3A	Narrow palpebral fissure	HP:0045025
1788	DNMT3A	Optic nerve hypoplasia	HP:0000609
1788	DNMT3A	Tall stature	HP:0000098
1788	DNMT3A	Seizures	HP:0001250
1788	DNMT3A	Encephalomalacia	HP:0040197
1788	DNMT3A	Blepharophimosis	HP:0000581
1788	DNMT3A	Autosomal dominant inheritance	HP:0000006
1788	DNMT3A	Acute myeloid leukemia	HP:0004808
1788	DNMT3A	Generalized hypotonia	HP:0001290
1788	DNMT3A	Somatic mutation	HP:0001428
1788	DNMT3A	Round face	HP:0000311
1788	DNMT3A	Scoliosis	HP:0002650
1788	DNMT3A	Arnold-Chiari type I malformation	HP:0007099
1788	DNMT3A	Atrial septal defect	HP:0001631
50940	PDE11A	Skeletal muscle atrophy	HP:0003202
50940	PDE11A	Thin skin	HP:0000963
50940	PDE11A	Psychosis	HP:0000709
50940	PDE11A	Autosomal dominant inheritance	HP:0000006
50940	PDE11A	Hypogonadism	HP:0000135
50940	PDE11A	Agitation	HP:0000713
50940	PDE11A	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0003466
50940	PDE11A	Depressivity	HP:0000716
50940	PDE11A	Bruising susceptibility	HP:0000978
50940	PDE11A	Fatigue	HP:0012378
50940	PDE11A	Onset	HP:0003674
50940	PDE11A	Adrenal hyperplasia	HP:0008221
50940	PDE11A	Short stature	HP:0004322
50940	PDE11A	Increased susceptibility to fractures	HP:0002659
50940	PDE11A	Anxiety	HP:0000739
50940	PDE11A	Truncal obesity	HP:0001956
50940	PDE11A	Mood changes	HP:0001575
50940	PDE11A	Decreased circulating ACTH level	HP:0002920
50940	PDE11A	Striae distensae	HP:0001065
50940	PDE11A	Osteopenia	HP:0000938
50940	PDE11A	Osteoporosis	HP:0000939
50940	PDE11A	Primary hypercortisolism	HP:0001579
50940	PDE11A	Pigmented micronodular adrenocortical disease	HP:0001580
50940	PDE11A	Muscle weakness	HP:0001324
50940	PDE11A	Diabetes mellitus	HP:0000819
50940	PDE11A	Mental deterioration	HP:0001268
50940	PDE11A	Hypertension	HP:0000822
50940	PDE11A	Round face	HP:0000311
50940	PDE11A	Kyphosis	HP:0002808
50940	PDE11A	Slender build	HP:0001533
50940	PDE11A	Myopathy	HP:0003198
1789	DNMT3B	Macrocephaly	HP:0000256
1789	DNMT3B	Umbilical hernia	HP:0001537
1789	DNMT3B	Autosomal recessive inheritance	HP:0000007
1789	DNMT3B	Anteverted nares	HP:0000463
1789	DNMT3B	Flat face	HP:0012368
1789	DNMT3B	Malar flattening	HP:0000272
1789	DNMT3B	Abnormality of neutrophils	HP:0001874
1789	DNMT3B	Abnormality of chromosome stability	HP:0003220
1789	DNMT3B	Decreased antibody level in blood	HP:0004313
1789	DNMT3B	Reduced natural killer cell count	HP:0040218
1789	DNMT3B	Decrease in T cell count	HP:0005403
1789	DNMT3B	Micrognathia	HP:0000347
1789	DNMT3B	Recurrent respiratory infections	HP:0002205
1789	DNMT3B	Epicanthus	HP:0000286
1789	DNMT3B	Diarrhea	HP:0002014
1789	DNMT3B	Macroglossia	HP:0000158
1789	DNMT3B	Depressed nasal bridge	HP:0005280
1789	DNMT3B	Decreased circulating IgA level	HP:0002720
1789	DNMT3B	Lymphopenia	HP:0001888
1789	DNMT3B	Immunodeficiency	HP:0002721
1789	DNMT3B	Intellectual disability	HP:0001249
1789	DNMT3B	Short stature	HP:0004322
1789	DNMT3B	Failure to thrive	HP:0001508
1789	DNMT3B	Malabsorption	HP:0002024
1789	DNMT3B	Increased circulating IgM level	HP:0003496
1789	DNMT3B	Pneumonia	HP:0002090
1789	DNMT3B	Anemia	HP:0001903
1789	DNMT3B	Global developmental delay	HP:0001263
1789	DNMT3B	Low-set ears	HP:0000369
1789	DNMT3B	Chronic bronchitis	HP:0004469
1789	DNMT3B	Sinusitis	HP:0000246
1789	DNMT3B	Communicating hydrocephalus	HP:0001334
1789	DNMT3B	Protruding tongue	HP:0010808
1789	DNMT3B	Hypertelorism	HP:0000316
1789	DNMT3B	Short nose	HP:0003196
1789	DNMT3B	Bronchiectasis	HP:0002110
1789	DNMT3B	Cellular immunodeficiency	HP:0005374
50943	FOXP3	Autoimmune hemolytic anemia	HP:0001890
50943	FOXP3	Ileus	HP:0002595
50943	FOXP3	Eczema	HP:0000964
50943	FOXP3	Type I diabetes mellitus	HP:0100651
50943	FOXP3	X-linked recessive inheritance	HP:0001419
50943	FOXP3	Immune dysregulation	HP:0002958
50943	FOXP3	Villous atrophy	HP:0011473
50943	FOXP3	Thrombocytopenia	HP:0001873
50943	FOXP3	Diabetes mellitus	HP:0000819
50943	FOXP3	Variable expressivity	HP:0003828
50943	FOXP3	Hypothyroidism	HP:0000821
50943	FOXP3	Eosinophilia	HP:0001880
50943	FOXP3	Lymphadenopathy	HP:0002716
50943	FOXP3	Diarrhea	HP:0002014
50945	TBX22	Bifid uvula	HP:0000193
50945	TBX22	Brachydactyly	HP:0001156
50945	TBX22	X-linked inheritance	HP:0001417
50945	TBX22	Coloboma	HP:0000589
50945	TBX22	Macrotia	HP:0000400
50945	TBX22	Malar flattening	HP:0000272
50945	TBX22	Flat face	HP:0012368
50945	TBX22	Conductive hearing impairment	HP:0000405
50945	TBX22	Sensorineural hearing impairment	HP:0000407
50945	TBX22	Protruding ear	HP:0000411
50945	TBX22	Cryptorchidism	HP:0000028
50945	TBX22	Radioulnar synostosis	HP:0002974
50945	TBX22	Epicanthus	HP:0000286
50945	TBX22	Atrial septal defect	HP:0001631
50945	TBX22	Short stature	HP:0004322
50945	TBX22	Microcornea	HP:0000482
50945	TBX22	Iris coloboma	HP:0000612
50945	TBX22	Short toe	HP:0001831
50945	TBX22	Coronal hypospadias	HP:0008743
50945	TBX22	Toe syndactyly	HP:0001770
50945	TBX22	Hearing impairment	HP:0000365
50945	TBX22	Hypospadias	HP:0000047
50945	TBX22	Cleft palate	HP:0000175
50945	TBX22	Chorioretinal coloboma	HP:0000567
50945	TBX22	Ankyloglossia	HP:0010296
50945	TBX22	Ulnar deviation of finger	HP:0009465
50945	TBX22	Abnormal localization of kidney	HP:0100542
50945	TBX22	Dimple chin	HP:0010751
1794	DOCK2	Lymphopenia	HP:0001888
1794	DOCK2	Immunodeficiency	HP:0002721
1794	DOCK2	Autosomal recessive inheritance	HP:0000007
1794	DOCK2	Congenital onset	HP:0003577
83715	ESPN	Autosomal recessive inheritance	HP:0000007
83715	ESPN	Sensorineural hearing impairment	HP:0000407
83715	ESPN	Vestibular areflexia	HP:0008568
1795	DOCK3	Delayed ability to walk	HP:0031936
1795	DOCK3	Gait ataxia	HP:0002066
1795	DOCK3	Pointed chin	HP:0000307
1795	DOCK3	Long face	HP:0000276
1795	DOCK3	Epicanthus	HP:0000286
1795	DOCK3	Downslanted palpebral fissures	HP:0000494
1795	DOCK3	Anteverted nares	HP:0000463
1795	DOCK3	Global developmental delay	HP:0001263
1795	DOCK3	Mandibular prognathia	HP:0000303
9987	HNRNPDL	Limb-girdle muscular dystrophy	HP:0006785
9987	HNRNPDL	Elevated serum creatine kinase	HP:0003236
9987	HNRNPDL	Pelvic girdle muscle weakness	HP:0003749
9987	HNRNPDL	Autosomal dominant inheritance	HP:0000006
9987	HNRNPDL	Cataract	HP:0000518
9987	HNRNPDL	Hyporeflexia	HP:0001265
9987	HNRNPDL	Flexion limitation of toes	HP:0008116
9987	HNRNPDL	Proximal upper limb amyotrophy	HP:0008948
9987	HNRNPDL	Incomplete penetrance	HP:0003829
9987	HNRNPDL	Decreased movement range in interphalangeal joints	HP:0006203
9987	HNRNPDL	Shoulder girdle muscle weakness	HP:0003547
9987	HNRNPDL	Proximal lower limb amyotrophy	HP:0008956
9987	HNRNPDL	Rimmed vacuoles	HP:0003805
9987	HNRNPDL	Adult onset	HP:0003581
9987	HNRNPDL	Slow progression	HP:0003677
9987	HNRNPDL	Myopathy	HP:0003198
1798	DPAGT1	Ragged-red muscle fibers	HP:0003200
1798	DPAGT1	Hypoproteinemia	HP:0003075
1798	DPAGT1	Areflexia	HP:0001284
1798	DPAGT1	Facial palsy	HP:0010628
1798	DPAGT1	Cataract	HP:0000518
1798	DPAGT1	Autosomal dominant inheritance	HP:0000006
1798	DPAGT1	Autosomal recessive inheritance	HP:0000007
1798	DPAGT1	Generalized hypotonia	HP:0001290
1798	DPAGT1	Fatigable weakness	HP:0003473
1798	DPAGT1	Cryptorchidism	HP:0000028
1798	DPAGT1	Distal muscle weakness	HP:0002460
1798	DPAGT1	Skin dimples	HP:0010781
1798	DPAGT1	Elevated serum creatine kinase	HP:0003236
1798	DPAGT1	Respiratory insufficiency	HP:0002093
1798	DPAGT1	Difficulty walking	HP:0002355
1798	DPAGT1	Frequent falls	HP:0002359
1798	DPAGT1	Reduced antithrombin III activity	HP:0001976
1798	DPAGT1	Apnea	HP:0002104
1798	DPAGT1	Jaundice	HP:0000952
1798	DPAGT1	Tremor	HP:0001337
1798	DPAGT1	Type I transferrin isoform profile	HP:0003642
1798	DPAGT1	Single transverse palmar crease	HP:0000954
1798	DPAGT1	Easy fatigability	HP:0003388
1798	DPAGT1	Gowers sign	HP:0003391
1798	DPAGT1	Exotropia	HP:0000577
1798	DPAGT1	Muscle spasm	HP:0003394
1798	DPAGT1	Hyperreflexia	HP:0001347
1798	DPAGT1	Generalized weakness of limb muscles	HP:0009028
1798	DPAGT1	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
1798	DPAGT1	Muscle fiber tubular inclusions	HP:0100301
1798	DPAGT1	Aggressive behavior	HP:0000718
1798	DPAGT1	Waddling gait	HP:0002515
1798	DPAGT1	Difficulty running	HP:0009046
1798	DPAGT1	Scoliosis	HP:0002650
1798	DPAGT1	High palate	HP:0000218
1798	DPAGT1	Flexion contracture	HP:0001371
1798	DPAGT1	Micrognathia	HP:0000347
1798	DPAGT1	Type 1 muscle fiber predominance	HP:0003803
1798	DPAGT1	Slow progression	HP:0003677
1798	DPAGT1	Elevated hepatic transaminase	HP:0002910
1798	DPAGT1	Difficulty climbing stairs	HP:0003551
1798	DPAGT1	Intellectual disability	HP:0001249
1798	DPAGT1	Seizures	HP:0001250
1798	DPAGT1	Pes planus	HP:0001763
1798	DPAGT1	Muscular hypotonia	HP:0001252
1798	DPAGT1	Scapular winging	HP:0003691
1798	DPAGT1	Knee flexion contracture	HP:0006380
1798	DPAGT1	Joint laxity	HP:0001388
1798	DPAGT1	Global developmental delay	HP:0001263
1798	DPAGT1	Clinodactyly of the 5th finger	HP:0004209
1798	DPAGT1	Inverted nipples	HP:0003186
1798	DPAGT1	Variable expressivity	HP:0003828
1798	DPAGT1	Proximal muscle weakness	HP:0003701
1798	DPAGT1	Poor head control	HP:0002421
1798	DPAGT1	Motor delay	HP:0001270
1798	DPAGT1	Congenital onset	HP:0003577
1798	DPAGT1	Lumbar hyperlordosis	HP:0002938
1798	DPAGT1	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0030202
1798	DPAGT1	Hypertonia	HP:0001276
1798	DPAGT1	Microcephaly	HP:0000252
1798	DPAGT1	Ptosis	HP:0000508
1798	DPAGT1	Increased jitter at single fibre EMG	HP:0030205
1798	DPAGT1	Limb-girdle muscle weakness	HP:0003325
1798	DPAGT1	Myopathy	HP:0003198
1798	DPAGT1	Nystagmus	HP:0000639
9990	SLC12A6	Skeletal muscle atrophy	HP:0003202
9990	SLC12A6	Areflexia	HP:0001284
9990	SLC12A6	Turricephaly	HP:0000262
9990	SLC12A6	Autosomal recessive inheritance	HP:0000007
9990	SLC12A6	Generalized hypotonia	HP:0001290
9990	SLC12A6	Motor polyneuropathy	HP:0007178
9990	SLC12A6	Macrotia	HP:0000400
9990	SLC12A6	Long face	HP:0000276
9990	SLC12A6	Peripheral axonal neuropathy	HP:0003477
9990	SLC12A6	Limb tremor	HP:0200085
9990	SLC12A6	Hemiplegia/hemiparesis	HP:0004374
9990	SLC12A6	Abnormality of retinal pigmentation	HP:0007703
9990	SLC12A6	Tapered finger	HP:0001182
9990	SLC12A6	Myopia	HP:0000545
9990	SLC12A6	Low anterior hairline	HP:0000294
9990	SLC12A6	Neonatal hypotonia	HP:0001319
9990	SLC12A6	Respiratory tract infection	HP:0011947
9990	SLC12A6	Wide nasal bridge	HP:0000431
9990	SLC12A6	EEG abnormality	HP:0002353
9990	SLC12A6	Axonal degeneration/regeneration	HP:0003378
9990	SLC12A6	Onion bulb formation	HP:0003383
9990	SLC12A6	Hypertelorism	HP:0000316
9990	SLC12A6	Restrictive deficit on pulmonary function testing	HP:0002111
9990	SLC12A6	Facial asymmetry	HP:0000324
9990	SLC12A6	Psychosis	HP:0000709
9990	SLC12A6	Facial diplegia	HP:0001349
9990	SLC12A6	Hypoplasia of the maxilla	HP:0000327
9990	SLC12A6	Ventriculomegaly	HP:0002119
9990	SLC12A6	2-3 toe syndactyly	HP:0004691
9990	SLC12A6	Craniosynostosis	HP:0001363
9990	SLC12A6	Narrow forehead	HP:0000341
9990	SLC12A6	High palate	HP:0000218
9990	SLC12A6	Scoliosis	HP:0002650
9990	SLC12A6	Flexion contracture	HP:0001371
9990	SLC12A6	Progressive	HP:0003676
9990	SLC12A6	Intellectual disability	HP:0001249
9990	SLC12A6	Seizures	HP:0001250
9990	SLC12A6	Strabismus	HP:0000486
9990	SLC12A6	Decreased motor nerve conduction velocity	HP:0003431
9990	SLC12A6	Increased CSF protein	HP:0002922
9990	SLC12A6	Limb muscle weakness	HP:0003690
9990	SLC12A6	Aqueductal stenosis	HP:0002410
9990	SLC12A6	Global developmental delay	HP:0001263
9990	SLC12A6	EMG: chronic denervation signs	HP:0003444
9990	SLC12A6	Motor delay	HP:0001270
9990	SLC12A6	Polyneuropathy	HP:0001271
9990	SLC12A6	Decreased sensory nerve conduction velocity	HP:0003448
9990	SLC12A6	Brachycephaly	HP:0000248
9990	SLC12A6	Agenesis of corpus callosum	HP:0001274
9990	SLC12A6	Sensory neuropathy	HP:0000763
9990	SLC12A6	Short nose	HP:0003196
9990	SLC12A6	Ptosis	HP:0000508
9990	SLC12A6	Microcephaly	HP:0000252
9990	SLC12A6	Nystagmus	HP:0000639
9992	KCNE2	Torsade de pointes	HP:0001664
9992	KCNE2	Heterogeneous	HP:0001425
9992	KCNE2	Permanent atrial fibrillation	HP:0004754
9992	KCNE2	Paroxysmal atrial fibrillation	HP:0004757
9992	KCNE2	Autosomal dominant inheritance	HP:0000006
9992	KCNE2	Prolonged QT interval	HP:0001657
9992	KCNE2	Palpitations	HP:0001962
9992	KCNE2	Premature atrial contractions	HP:0006699
9992	KCNE2	Sudden cardiac death	HP:0001645
9992	KCNE2	Ventricular fibrillation	HP:0001663
9992	KCNE2	Syncope	HP:0001279
1801	DPH1	Depressed nasal bridge	HP:0005280
1801	DPH1	Intellectual disability	HP:0001249
1801	DPH1	Short stature	HP:0004322
1801	DPH1	Abnormality of the dentition	HP:0000164
1801	DPH1	Autosomal recessive inheritance	HP:0000007
1801	DPH1	Hypoplastic toenails	HP:0001800
1801	DPH1	Abnormality of the kidney	HP:0000077
1801	DPH1	Sparse eyelashes	HP:0000653
1801	DPH1	Downslanted palpebral fissures	HP:0000494
1801	DPH1	Global developmental delay	HP:0001263
1801	DPH1	Scaphocephaly	HP:0030799
1801	DPH1	Low-set ears	HP:0000369
1801	DPH1	Sparse eyebrow	HP:0045075
1801	DPH1	Trigonocephaly	HP:0000243
1801	DPH1	Craniosynostosis	HP:0001363
1801	DPH1	Prominent forehead	HP:0011220
1801	DPH1	Dandy-Walker malformation	HP:0001305
1801	DPH1	Congenital onset	HP:0003577
1801	DPH1	Micrognathia	HP:0000347
1801	DPH1	Hypertelorism	HP:0000316
1801	DPH1	Ventricular septal defect	HP:0001629
1801	DPH1	Epicanthus	HP:0000286
9993	DGCR2	Umbilical hernia	HP:0001537
9993	DGCR2	Open mouth	HP:0000194
9993	DGCR2	Abnormality of the hand	HP:0001155
9993	DGCR2	Right aortic arch with mirror image branching	HP:0002627
9993	DGCR2	Blepharophimosis	HP:0000581
9993	DGCR2	Autosomal dominant inheritance	HP:0000006
9993	DGCR2	Double aortic arch	HP:0011590
9993	DGCR2	Pulmonary artery atresia	HP:0004935
9993	DGCR2	Pierre-Robin sequence	HP:0000201
9993	DGCR2	Nasal speech	HP:0001611
9993	DGCR2	Aggressive behavior	HP:0000718
9993	DGCR2	Mood swings	HP:0000720
9993	DGCR2	Hypocalcemia	HP:0002901
9993	DGCR2	Unilateral primary pulmonary dysgenesis	HP:0006549
9993	DGCR2	Abnormality of the ear	HP:0000598
9993	DGCR2	Retrognathia	HP:0000278
9993	DGCR2	Inguinal hernia	HP:0000023
9993	DGCR2	Interrupted aortic arch	HP:0011611
9993	DGCR2	Talipes	HP:0001883
9993	DGCR2	Cryptorchidism	HP:0000028
9993	DGCR2	Velopharyngeal insufficiency	HP:0000220
9993	DGCR2	Ventricular septal defect	HP:0001629
9993	DGCR2	Bulbous nose	HP:0000414
9993	DGCR2	Paranoia	HP:0011999
9993	DGCR2	Recurrent infections	HP:0002719
9993	DGCR2	Intellectual disability	HP:0001249
9993	DGCR2	Narrow palpebral fissure	HP:0045025
9993	DGCR2	Short stature	HP:0004322
9993	DGCR2	Tetralogy of Fallot	HP:0001636
9993	DGCR2	Muscular hypotonia	HP:0001252
9993	DGCR2	Retinal vascular tortuosity	HP:0012841
9993	DGCR2	Underdeveloped nasal alae	HP:0000430
9993	DGCR2	Submucous cleft hard palate	HP:0000176
9993	DGCR2	Specific learning disability	HP:0001328
9993	DGCR2	Posterior embryotoxon	HP:0000627
9993	DGCR2	Impaired T cell function	HP:0005435
9993	DGCR2	Microcephaly	HP:0000252
9993	DGCR2	Hypoparathyroidism	HP:0000829
1804	DPP6	Intellectual disability	HP:0001249
1804	DPP6	Chorioretinal degeneration	HP:0200065
1804	DPP6	Short stature	HP:0004322
1804	DPP6	Decreased body weight	HP:0004325
1804	DPP6	Autosomal dominant inheritance	HP:0000006
1804	DPP6	Amblyopia	HP:0000646
1804	DPP6	Attention deficit hyperactivity disorder	HP:0007018
1804	DPP6	Reduced number of teeth	HP:0009804
1804	DPP6	Alternating esotropia	HP:0001137
1804	DPP6	Scoliosis	HP:0002650
1804	DPP6	Horizontal nystagmus	HP:0000666
1804	DPP6	Protruding ear	HP:0000411
1804	DPP6	Microcephaly	HP:0000252
1804	DPP6	Delayed skeletal maturation	HP:0002750
9997	SCO2	Exotropia	HP:0000577
9997	SCO2	Foot dorsiflexor weakness	HP:0009027
9997	SCO2	Areflexia	HP:0001284
9997	SCO2	Facial diplegia	HP:0001349
9997	SCO2	Limited extraocular movements	HP:0007941
9997	SCO2	Autosomal dominant inheritance	HP:0000006
9997	SCO2	Autosomal recessive inheritance	HP:0000007
9997	SCO2	Clumsiness	HP:0002312
9997	SCO2	Motor polyneuropathy	HP:0007178
9997	SCO2	Generalized hypotonia	HP:0001290
9997	SCO2	Fasciculations	HP:0002380
9997	SCO2	Neuronal loss in basal ganglia	HP:0200147
9997	SCO2	Abnormal circulating copper concentration	HP:0010836
9997	SCO2	Basal ganglia gliosis	HP:0006999
9997	SCO2	Generalized limb muscle atrophy	HP:0009055
9997	SCO2	Myopia	HP:0000545
9997	SCO2	Neuronal loss in central nervous system	HP:0002529
9997	SCO2	Pes planus	HP:0001763
9997	SCO2	Muscular hypotonia	HP:0001252
9997	SCO2	Increased serum lactate	HP:0002151
9997	SCO2	Hypertrophic cardiomyopathy	HP:0001639
9997	SCO2	Feeding difficulties in infancy	HP:0008872
9997	SCO2	Lower limb muscle weakness	HP:0007340
9997	SCO2	Dysarthria	HP:0001260
9997	SCO2	Global developmental delay	HP:0001263
9997	SCO2	Steppage gait	HP:0003376
9997	SCO2	Respiratory distress	HP:0002098
9997	SCO2	Death in infancy	HP:0001522
9997	SCO2	EMG: chronic denervation signs	HP:0003444
9997	SCO2	Motor delay	HP:0001270
9997	SCO2	Impaired vibration sensation in the lower limbs	HP:0002166
9997	SCO2	Frequent falls	HP:0002359
9997	SCO2	Lactic acidosis	HP:0003128
9997	SCO2	Congenital onset	HP:0003577
9997	SCO2	Increased CSF lactate	HP:0002490
9997	SCO2	Ptosis	HP:0000508
255758	TCTEX1D2	Short stature	HP:0004322
255758	TCTEX1D2	Brachydactyly	HP:0001156
255758	TCTEX1D2	Autosomal recessive inheritance	HP:0000007
255758	TCTEX1D2	Polydactyly	HP:0010442
255758	TCTEX1D2	Lateral clavicle hook	HP:0000895
1806	DPYD	Macrocephaly	HP:0000256
1806	DPYD	Long ear	HP:0400004
1806	DPYD	Abnormal eating behavior	HP:0100738
1806	DPYD	Upslanted palpebral fissure	HP:0000582
1806	DPYD	Reduced dihydropyrimidine dehydrogenase activity	HP:0003654
1806	DPYD	Broad nasal tip	HP:0000455
1806	DPYD	Autosomal recessive inheritance	HP:0000007
1806	DPYD	Optic atrophy	HP:0000648
1806	DPYD	Generalized hypotonia	HP:0001290
1806	DPYD	Cerebral atrophy	HP:0002059
1806	DPYD	Coloboma	HP:0000589
1806	DPYD	Autism	HP:0000717
1806	DPYD	Tetraplegia	HP:0002445
1806	DPYD	Aggressive behavior	HP:0000718
1806	DPYD	Autistic behavior	HP:0000729
1806	DPYD	Wide mouth	HP:0000154
1806	DPYD	Micrognathia	HP:0000347
1806	DPYD	Myopia	HP:0000545
1806	DPYD	Intellectual disability	HP:0001249
1806	DPYD	Seizures	HP:0001250
1806	DPYD	Astigmatism	HP:0000483
1806	DPYD	Shyness	HP:0100962
1806	DPYD	Failure to thrive	HP:0001508
1806	DPYD	Muscular hypotonia	HP:0001252
1806	DPYD	Full cheeks	HP:0000293
1806	DPYD	Self-mutilation	HP:0000742
1806	DPYD	Joint hypermobility	HP:0001382
1806	DPYD	Growth delay	HP:0001510
1806	DPYD	Lethargy	HP:0001254
1806	DPYD	Intellectual disability, mild	HP:0001256
1806	DPYD	Obesity	HP:0001513
1806	DPYD	Deeply set eye	HP:0000490
1806	DPYD	Delayed speech and language development	HP:0000750
1806	DPYD	Global developmental delay	HP:0001263
1806	DPYD	Hyperactivity	HP:0000752
1806	DPYD	Motor delay	HP:0001270
1806	DPYD	Abnormality of vision	HP:0000504
1806	DPYD	Microphthalmia	HP:0000568
1806	DPYD	Agenesis of corpus callosum	HP:0001274
1806	DPYD	Short nose	HP:0003196
1806	DPYD	Microcephaly	HP:0000252
1806	DPYD	Hypertonia	HP:0001276
1806	DPYD	Nystagmus	HP:0000639
1807	DPYS	Intellectual disability	HP:0001249
1807	DPYS	Talipes equinovarus	HP:0001762
1807	DPYS	Seizures	HP:0001250
1807	DPYS	Abnormality of the cerebral white matter	HP:0002500
1807	DPYS	Reduced dihydropyrimidine dehydrogenase activity	HP:0003654
1807	DPYS	Growth delay	HP:0001510
1807	DPYS	Lethargy	HP:0001254
1807	DPYS	Anal atresia	HP:0002023
1807	DPYS	Autosomal recessive inheritance	HP:0000007
1807	DPYS	Feeding difficulties in infancy	HP:0008872
1807	DPYS	Short phalanx of finger	HP:0009803
1807	DPYS	Extrapyramidal dyskinesia	HP:0007308
1807	DPYS	Plagiocephaly	HP:0001357
1807	DPYS	Excessive daytime somnolence	HP:0001262
1807	DPYS	Morphological abnormality of the pyramidal tract	HP:0002062
1807	DPYS	Delayed speech and language development	HP:0000750
1807	DPYS	Abnormal facial shape	HP:0001999
1807	DPYS	Metabolic acidosis	HP:0001942
1807	DPYS	Abnormal pyramidal sign	HP:0007256
10000	AKT3	Macrocephaly	HP:0000256
10000	AKT3	Narrow mouth	HP:0000160
10000	AKT3	Depressed nasal bridge	HP:0005280
10000	AKT3	Intellectual disability	HP:0001249
10000	AKT3	Seizures	HP:0001250
10000	AKT3	Cutis marmorata	HP:0000965
10000	AKT3	Autosomal dominant inheritance	HP:0000006
10000	AKT3	Hemimegalencephaly	HP:0007206
10000	AKT3	Ventriculomegaly	HP:0002119
10000	AKT3	Postaxial hand polydactyly	HP:0001162
10000	AKT3	Megalencephaly	HP:0001355
10000	AKT3	Polymicrogyria	HP:0002126
10000	AKT3	Hyperextensible skin	HP:0000974
10000	AKT3	Hydrocephalus	HP:0000238
10000	AKT3	Abnormal nasal morphology	HP:0005105
10000	AKT3	Mitral regurgitation	HP:0001653
10000	AKT3	Telecanthus	HP:0000506
10000	AKT3	High forehead	HP:0000348
10000	AKT3	Hypertelorism	HP:0000316
10000	AKT3	Ventricular septal defect	HP:0001629
10000	AKT3	Hypoplasia of the corpus callosum	HP:0002079
10000	AKT3	Abnormal localization of kidney	HP:0100542
10002	NR2E3	Abnormal electroretinogram	HP:0000512
10002	NR2E3	Red-green dyschromatopsia	HP:0000642
10002	NR2E3	Hyperreflexia	HP:0001347
10002	NR2E3	Pigmentary retinopathy	HP:0000580
10002	NR2E3	Autosomal dominant inheritance	HP:0000006
10002	NR2E3	Cataract	HP:0000518
10002	NR2E3	Autosomal recessive inheritance	HP:0000007
10002	NR2E3	Hypogonadism	HP:0000135
10002	NR2E3	Undetectable light- and dark-adapted electroretinogram	HP:0007688
10002	NR2E3	Optic atrophy	HP:0000648
10002	NR2E3	Edema	HP:0000969
10002	NR2E3	Hyperinsulinemia	HP:0000842
10002	NR2E3	Hemeralopia	HP:0012047
10002	NR2E3	Anteverted nares	HP:0000463
10002	NR2E3	Conductive hearing impairment	HP:0000405
10002	NR2E3	Nyctalopia	HP:0000662
10002	NR2E3	Sensorineural hearing impairment	HP:0000407
10002	NR2E3	Abnormality of retinal pigmentation	HP:0007703
10002	NR2E3	Ophthalmoplegia	HP:0000602
10002	NR2E3	Type II diabetes mellitus	HP:0005978
10002	NR2E3	Atypical scarring of skin	HP:0000987
10002	NR2E3	Cystoid macular degeneration	HP:0008028
10002	NR2E3	Vitreoretinopathy	HP:0007773
10002	NR2E3	Hypoplasia of penis	HP:0008736
10002	NR2E3	Intellectual disability	HP:0001249
10002	NR2E3	Abnormal testis morphology	HP:0000035
10002	NR2E3	Photophobia	HP:0000613
10002	NR2E3	Retinoschisis	HP:0030502
10002	NR2E3	Undetectable electroretinogram	HP:0000550
10002	NR2E3	Tritanomaly	HP:0000552
10002	NR2E3	Obesity	HP:0001513
10002	NR2E3	Blindness	HP:0000618
10002	NR2E3	Abnormal retinal vascular morphology	HP:0008046
10002	NR2E3	Wide nasal bridge	HP:0000431
10002	NR2E3	Macular edema	HP:0040049
10002	NR2E3	Keratoconus	HP:0000563
10002	NR2E3	Glaucoma	HP:0000501
10002	NR2E3	Progressive night blindness	HP:0007675
10002	NR2E3	Rod-cone dystrophy	HP:0000510
10002	NR2E3	Nystagmus	HP:0000639
1811	SLC26A3	Growth abnormality	HP:0001507
1811	SLC26A3	Failure to thrive	HP:0001508
1811	SLC26A3	Growth delay	HP:0001510
1811	SLC26A3	Abdominal distention	HP:0003270
1811	SLC26A3	Autosomal recessive inheritance	HP:0000007
1811	SLC26A3	Hypochloremia	HP:0003113
1811	SLC26A3	Hyperactive renin-angiotensin system	HP:0000841
1811	SLC26A3	Metabolic alkalosis	HP:0200114
1811	SLC26A3	Hypokalemia	HP:0002900
1811	SLC26A3	Premature birth	HP:0001622
1811	SLC26A3	Hyponatremia	HP:0002902
1811	SLC26A3	Dehydration	HP:0001944
1811	SLC26A3	Polyhydramnios	HP:0001561
1811	SLC26A3	Abnormality of the cardiovascular system	HP:0001626
1811	SLC26A3	Hyperaldosteronism	HP:0000859
1811	SLC26A3	Alkalosis	HP:0001948
1811	SLC26A3	Diarrhea	HP:0002014
50964	SOST	Macrocephaly	HP:0000256
50964	SOST	Deviation of finger	HP:0004097
50964	SOST	Facial palsy	HP:0010628
50964	SOST	Abnormality of the ribs	HP:0000772
50964	SOST	Thickened ribs	HP:0000900
50964	SOST	Autosomal dominant inheritance	HP:0000006
50964	SOST	Autosomal recessive inheritance	HP:0000007
50964	SOST	Optic atrophy	HP:0000648
50964	SOST	Proptosis	HP:0000520
50964	SOST	Infantile onset	HP:0003593
50964	SOST	Headache	HP:0002315
50964	SOST	Overgrowth	HP:0001548
50964	SOST	Craniofacial hyperostosis	HP:0004493
50964	SOST	Cortically dense long tubular bones	HP:0006415
50964	SOST	Malar flattening	HP:0000272
50964	SOST	Progressive visual loss	HP:0000529
50964	SOST	Stenosis of the external auditory canal	HP:0000402
50964	SOST	Broad clavicles	HP:0000916
50964	SOST	Cortical sclerosis	HP:0005652
50964	SOST	Conductive hearing impairment	HP:0000405
50964	SOST	Optic atrophy from cranial nerve compression	HP:0007958
50964	SOST	Sensorineural hearing impairment	HP:0000407
50964	SOST	Midface retrusion	HP:0011800
50964	SOST	Coarse facial features	HP:0000280
50964	SOST	Diaphyseal thickening	HP:0005019
50964	SOST	Generalized osteosclerosis	HP:0005789
50964	SOST	Abnormal cortical bone morphology	HP:0003103
50964	SOST	Depressed nasal bridge	HP:0005280
50964	SOST	Sudden death	HP:0001699
50964	SOST	Thickened cortex of long bones	HP:0000935
50964	SOST	Cranial nerve paralysis	HP:0006824
50964	SOST	Wide nasal bridge	HP:0000431
50964	SOST	Mandibular prognathia	HP:0000303
50964	SOST	Dental malocclusion	HP:0000689
50964	SOST	Esotropia	HP:0000565
50964	SOST	Visual loss	HP:0000572
50964	SOST	Hypertelorism	HP:0000316
50964	SOST	Papilledema	HP:0001085
50964	SOST	Cognitive impairment	HP:0100543
50964	SOST	Fingernail dysplasia	HP:0100798
50964	SOST	Sclerotic scapulae	HP:0001474
50964	SOST	Choanal stenosis	HP:0000452
50964	SOST	Facial diplegia	HP:0001349
50964	SOST	2-3 finger syndactyly	HP:0001233
50964	SOST	Elevated alkaline phosphatase	HP:0003155
50964	SOST	Increased intracranial pressure	HP:0002516
50964	SOST	Abnormality of pelvic girdle bone morphology	HP:0002644
50964	SOST	Cranial hyperostosis	HP:0004437
50964	SOST	Frontal bossing	HP:0002007
50964	SOST	Craniofacial osteosclerosis	HP:0005464
50964	SOST	Diaphyseal sclerosis	HP:0003034
50964	SOST	Progressive	HP:0003676
50964	SOST	Elevated circulating parathyroid hormone level	HP:0003165
50964	SOST	Sclerotic vertebral endplates	HP:0004576
50964	SOST	Intellectual disability	HP:0001249
50964	SOST	Tall stature	HP:0000098
50964	SOST	Short stature	HP:0004322
50964	SOST	Hearing impairment	HP:0000365
50964	SOST	Constriction of peripheral visual field	HP:0001133
50964	SOST	Abnormality of the nose	HP:0000366
50964	SOST	Curved distal phalanges of the hand	HP:0009838
50964	SOST	Concave nasal ridge	HP:0011120
50964	SOST	Nail dysplasia	HP:0002164
50964	SOST	Facial palsy secondary to cranial hyperostosis	HP:0007285
50964	SOST	Broad ribs	HP:0000885
50964	SOST	Increased bone mineral density	HP:0011001
50964	SOST	Abnormality of the clavicle	HP:0000889
50964	SOST	Ptosis	HP:0000508
50964	SOST	Nystagmus	HP:0000639
1813	DRD2	Obsessive-compulsive behavior	HP:0000722
1813	DRD2	Anxiety	HP:0000739
1813	DRD2	Spinal myoclonus	HP:0010531
1813	DRD2	Writer's cramp	HP:0002356
1813	DRD2	Panic attack	HP:0025269
1813	DRD2	Torticollis	HP:0000473
1813	DRD2	Personality disorder	HP:0012075
1813	DRD2	Limb myoclonus	HP:0045084
1813	DRD2	Depressivity	HP:0000716
132884	EVC2	Pectus carinatum	HP:0000768
132884	EVC2	Small nail	HP:0001792
132884	EVC2	Brachydactyly	HP:0001156
132884	EVC2	Short ribs	HP:0000773
132884	EVC2	Narrow chest	HP:0000774
132884	EVC2	Autosomal dominant inheritance	HP:0000006
132884	EVC2	Autosomal recessive inheritance	HP:0000007
132884	EVC2	Hypoplastic toenails	HP:0001800
132884	EVC2	Abnormality of female internal genitalia	HP:0000008
132884	EVC2	Hand polydactyly	HP:0001161
132884	EVC2	Postaxial hand polydactyly	HP:0001162
132884	EVC2	Abnormality of the antihelix	HP:0009738
132884	EVC2	Prominent antihelix	HP:0000395
132884	EVC2	Advanced eruption of teeth	HP:0006288
132884	EVC2	Cone-shaped epiphyses of phalanges 2 to 5	HP:0006035
132884	EVC2	Cubitus valgus	HP:0002967
132884	EVC2	Dandy-Walker malformation	HP:0001305
132884	EVC2	Short distal phalanx of finger	HP:0009882
132884	EVC2	Cryptorchidism	HP:0000028
132884	EVC2	Hypodontia	HP:0000668
132884	EVC2	Situs inversus totalis	HP:0001696
132884	EVC2	Foot polydactyly	HP:0001829
132884	EVC2	Postaxial foot polydactyly	HP:0001830
132884	EVC2	Epispadias	HP:0000039
132884	EVC2	Micromelia	HP:0002983
132884	EVC2	Atrioventricular canal defect	HP:0006695
132884	EVC2	Genu valgum	HP:0002857
132884	EVC2	Single median maxillary incisor	HP:0006315
132884	EVC2	Delayed eruption of teeth	HP:0000684
132884	EVC2	Common atrium	HP:0011565
132884	EVC2	Mild short stature	HP:0003502
132884	EVC2	Hypospadias	HP:0000047
132884	EVC2	Aplasia/Hypoplasia of the lungs	HP:0006703
132884	EVC2	Emphysema	HP:0002097
132884	EVC2	Hypoplastic iliac wing	HP:0002866
132884	EVC2	Microdontia	HP:0000691
132884	EVC2	Abnormal oral mucosa morphology	HP:0011830
132884	EVC2	Natal tooth	HP:0000695
132884	EVC2	Short palm	HP:0004279
132884	EVC2	Synostosis of carpal bones	HP:0005048
132884	EVC2	Acute leukemia	HP:0002488
132884	EVC2	Abnormality of bone marrow cell morphology	HP:0005561
132884	EVC2	Conical incisor	HP:0011065
132884	EVC2	Conical tooth	HP:0000698
132884	EVC2	Toenail dysplasia	HP:0100797
132884	EVC2	Overlapping fingers	HP:0010557
132884	EVC2	Abnormal oral frenulum morphology	HP:0000190
132884	EVC2	Delayed skeletal maturation	HP:0002750
132884	EVC2	Short thorax	HP:0010306
132884	EVC2	Ectodermal dysplasia	HP:0000968
132884	EVC2	Hydroureter	HP:0000072
132884	EVC2	Cleft upper lip	HP:0000204
132884	EVC2	Abnormality of the alveolar ridges	HP:0006477
132884	EVC2	Abnormal fingernail morphology	HP:0001231
132884	EVC2	Short long bone	HP:0003026
132884	EVC2	Nail dystrophy	HP:0008404
132884	EVC2	Abnormality of pelvic girdle bone morphology	HP:0002644
132884	EVC2	Acetabular spurs	HP:0010454
132884	EVC2	Facial cleft	HP:0002006
132884	EVC2	Neonatal short-limb short stature	HP:0008921
132884	EVC2	Capitate-hamate fusion	HP:0001241
132884	EVC2	Hypotelorism	HP:0000601
132884	EVC2	Ventricular septal defect	HP:0001629
132884	EVC2	Atrial septal defect	HP:0001631
132884	EVC2	Intellectual disability	HP:0001249
132884	EVC2	Talipes equinovarus	HP:0001762
132884	EVC2	Abnormal hair quantity	HP:0011362
132884	EVC2	Failure to thrive	HP:0001508
132884	EVC2	Renal hypoplasia/aplasia	HP:0008678
132884	EVC2	Strabismus	HP:0000486
132884	EVC2	Intrauterine growth retardation	HP:0001511
132884	EVC2	Thin vermilion border	HP:0000233
132884	EVC2	Clinodactyly of the 5th finger	HP:0004209
132884	EVC2	Nail dysplasia	HP:0002164
132884	EVC2	Small hand	HP:0200055
132884	EVC2	Abnormal heart valve morphology	HP:0001654
132884	EVC2	Horizontal ribs	HP:0000888
10008	KCNE3	Adrenocortical adenoma	HP:0008256
10008	KCNE3	EMG abnormality	HP:0003457
10008	KCNE3	Autosomal dominant inheritance	HP:0000006
10008	KCNE3	Episodic flaccid weakness	HP:0003752
10008	KCNE3	Late-onset proximal muscle weakness	HP:0003694
10008	KCNE3	Increased intramyocellular lipid droplets	HP:0012240
10008	KCNE3	Fatigable weakness of respiratory muscles	HP:0030196
10008	KCNE3	Mildly elevated creatine kinase	HP:0008180
10008	KCNE3	Episodic hypokalemia	HP:0012726
10008	KCNE3	Periodic hypokalemic paresis	HP:0008153
10008	KCNE3	Respiratory paralysis	HP:0002203
10008	KCNE3	ST segment elevation	HP:0012251
10008	KCNE3	Exercise-induced muscle fatigue	HP:0009020
10008	KCNE3	Postprandial hyperglycemia	HP:0011998
10008	KCNE3	Cardiac arrest	HP:0001695
10008	KCNE3	Ventricular fibrillation	HP:0001663
83737	ITCH	Chronic lung disease	HP:0006528
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	Chronic diarrhea	HP:0002028
83737	ITCH	Dolichocephaly	HP:0000268
83737	ITCH	Prominent occiput	HP:0000269
83737	ITCH	Global developmental delay	HP:0001263
83737	ITCH	Abnormal facial shape	HP:0001999
83737	ITCH	Splenomegaly	HP:0001744
83737	ITCH	Autoimmunity	HP:0002960
83737	ITCH	Low-set ears	HP:0000369
83737	ITCH	Frontal bossing	HP:0002007
10011	SRA1	Sparse pubic hair	HP:0002225
10011	SRA1	Primary amenorrhea	HP:0000786
10011	SRA1	Gynecomastia	HP:0000771
10011	SRA1	Infertility	HP:0000789
10011	SRA1	Micropenis	HP:0000054
10011	SRA1	Autosomal dominant inheritance	HP:0000006
10011	SRA1	Sparse axillary hair	HP:0002215
10011	SRA1	Autosomal recessive inheritance	HP:0000007
10011	SRA1	Cryptorchidism	HP:0000028
10011	SRA1	Hypogonadotrophic hypogonadism	HP:0000044
10011	SRA1	Decreased testicular size	HP:0008734
10013	HDAC6	Macrocephaly	HP:0000256
10013	HDAC6	Metaphyseal cupping of proximal phalanges	HP:0006208
10013	HDAC6	Short philtrum	HP:0000322
10013	HDAC6	Hyperkeratosis	HP:0000962
10013	HDAC6	Distal shortening of limbs	HP:0006402
10013	HDAC6	Depressed nasal ridge	HP:0000457
10013	HDAC6	Rhizomelia	HP:0008905
10013	HDAC6	Metaphyseal cupping of metacarpals	HP:0006028
10013	HDAC6	X-linked dominant inheritance	HP:0001423
10013	HDAC6	Frontal bossing	HP:0002007
10013	HDAC6	Wide mouth	HP:0000154
10013	HDAC6	Micrognathia	HP:0000347
10013	HDAC6	Platyspondyly	HP:0000926
10013	HDAC6	Intrauterine growth retardation	HP:0001511
10013	HDAC6	Intellectual disability, mild	HP:0001256
10013	HDAC6	Cerebellar hypoplasia	HP:0001321
10013	HDAC6	Decreased skull ossification	HP:0004331
10013	HDAC6	Abnormality of the calcaneus	HP:0008364
10013	HDAC6	Short foot	HP:0001773
10013	HDAC6	Hydrocephalus	HP:0000238
10013	HDAC6	11 pairs of ribs	HP:0000878
10013	HDAC6	Metaphyseal chondrodysplasia	HP:0005871
10013	HDAC6	Low-set ears	HP:0000369
10013	HDAC6	Death in infancy	HP:0001522
10013	HDAC6	Hypoplastic iliac wing	HP:0002866
10013	HDAC6	Thin ribs	HP:0000883
10013	HDAC6	Hypoplasia of the calcaneus	HP:0012789
10013	HDAC6	Short palm	HP:0004279
10013	HDAC6	Microphthalmia	HP:0000568
10013	HDAC6	Short nose	HP:0003196
1822	ATN1	Saccadic smooth pursuit	HP:0001152
1822	ATN1	Blepharospasm	HP:0000643
1822	ATN1	Autosomal dominant inheritance	HP:0000006
1822	ATN1	Atrophy of the dentate nucleus	HP:0007047
1822	ATN1	Impaired proprioception	HP:0010831
1822	ATN1	Oromandibular dystonia	HP:0012048
1822	ATN1	Gait ataxia	HP:0002066
1822	ATN1	Ophthalmoparesis	HP:0000597
1822	ATN1	Dementia	HP:0000726
1822	ATN1	Limb ataxia	HP:0002070
1822	ATN1	Chorea	HP:0002072
1822	ATN1	Abnormal pyramidal sign	HP:0007256
1822	ATN1	Progressive cerebellar ataxia	HP:0002073
1822	ATN1	Dysdiadochokinesis	HP:0002075
1822	ATN1	Dysmetria	HP:0001310
1822	ATN1	Truncal ataxia	HP:0002078
1822	ATN1	Genetic anticipation	HP:0003743
1822	ATN1	Seizures	HP:0001250
1822	ATN1	Ataxia	HP:0001251
1822	ATN1	Action tremor	HP:0002345
1822	ATN1	Hyperintensity of cerebral white matter on MRI	HP:0030890
1822	ATN1	Dysarthria	HP:0001260
1822	ATN1	Hyporeflexia	HP:0001265
1822	ATN1	Choreoathetosis	HP:0001266
1822	ATN1	Optic neuropathy	HP:0001138
1822	ATN1	Memory impairment	HP:0002354
1822	ATN1	Dyssynergia	HP:0010867
1822	ATN1	Myoclonus	HP:0001336
1822	ATN1	Fetal cystic hygroma	HP:0010878
1822	ATN1	Nystagmus	HP:0000639
1824	DSC2	Woolly hair	HP:0002224
1824	DSC2	Ventricular arrhythmia	HP:0004308
1824	DSC2	Palmoplantar keratoderma	HP:0000982
1824	DSC2	Autosomal dominant inheritance	HP:0000006
1824	DSC2	Autosomal recessive inheritance	HP:0000007
1824	DSC2	Palpitations	HP:0001962
1824	DSC2	Sudden cardiac death	HP:0001645
1824	DSC2	Dyspnea	HP:0002094
1824	DSC2	Right ventricular cardiomyopathy	HP:0011663
1824	DSC2	Syncope	HP:0001279
1825	DSC3	Sparse scalp hair	HP:0002209
1825	DSC3	Sparse or absent eyelashes	HP:0200102
1825	DSC3	Skin vesicle	HP:0200037
1825	DSC3	Autosomal recessive inheritance	HP:0000007
1825	DSC3	Sparse axillary hair	HP:0002215
1825	DSC3	Aplasia/Hypoplasia of the eyebrow	HP:0100840
1825	DSC3	Hypotrichosis	HP:0001006
345895	RSPH4A	Chronic rhinitis	HP:0002257
345895	RSPH4A	Short stature	HP:0004322
345895	RSPH4A	Abnormal central microtubular pair morphology of respiratory motile cilia	HP:0012260
345895	RSPH4A	Recurrent sinusitis	HP:0011108
345895	RSPH4A	Abnormal ciliary motility	HP:0012262
345895	RSPH4A	Autosomal recessive inheritance	HP:0000007
345895	RSPH4A	Ciliary dyskinesia	HP:0012265
345895	RSPH4A	Exercise intolerance	HP:0003546
345895	RSPH4A	Recurrent respiratory infections	HP:0002205
345895	RSPH4A	Bronchiectasis	HP:0002110
10019	SH2B3	Prolonged bleeding time	HP:0003010
10019	SH2B3	Arterial thrombosis	HP:0004420
10019	SH2B3	Myelofibrosis	HP:0011974
10019	SH2B3	Autosomal dominant inheritance	HP:0000006
10019	SH2B3	Venous thrombosis	HP:0004936
10019	SH2B3	Increased megakaryocyte count	HP:0005513
10019	SH2B3	Paresthesia	HP:0003401
10019	SH2B3	Headache	HP:0002315
10019	SH2B3	Chest pain	HP:0100749
10019	SH2B3	Splenomegaly	HP:0001744
10019	SH2B3	Vertigo	HP:0002321
10019	SH2B3	Peripheral thrombosis	HP:0002641
10019	SH2B3	Purpura	HP:0000979
10019	SH2B3	Somatic mutation	HP:0001428
10019	SH2B3	Pallor	HP:0000980
10019	SH2B3	Impaired platelet aggregation	HP:0003540
10019	SH2B3	Transient ischemic attack	HP:0002326
10019	SH2B3	Fever	HP:0001945
10019	SH2B3	Fatigue	HP:0012378
10019	SH2B3	Plethora	HP:0001050
10019	SH2B3	Abnormality of the skeletal system	HP:0000924
10019	SH2B3	Amaurosis fugax	HP:0100576
10019	SH2B3	Abnormal platelet morphology	HP:0011875
10019	SH2B3	Thrombocytosis	HP:0001894
10019	SH2B3	Acrocyanosis	HP:0001063
10019	SH2B3	Increased red blood cell mass	HP:0001898
10019	SH2B3	Myeloproliferative disorder	HP:0005547
10019	SH2B3	Increased hematocrit	HP:0001899
10019	SH2B3	Increased hemoglobin	HP:0001900
10019	SH2B3	Myelodysplasia	HP:0002863
10019	SH2B3	Hypertension	HP:0000822
10019	SH2B3	Acute leukemia	HP:0002488
10019	SH2B3	Myocardial infarction	HP:0001658
10019	SH2B3	Exertional dyspnea	HP:0002875
10019	SH2B3	Cerebral hemorrhage	HP:0001342
10020	GNE	Protuberant abdomen	HP:0001538
10020	GNE	EMG: myopathic abnormalities	HP:0003458
10020	GNE	Tibialis muscle weakness	HP:0008963
10020	GNE	Facial palsy	HP:0010628
10020	GNE	Fatty replacement of skeletal muscle	HP:0012548
10020	GNE	Autosomal dominant inheritance	HP:0000006
10020	GNE	Autosomal recessive inheritance	HP:0000007
10020	GNE	Gait disturbance	HP:0001288
10020	GNE	Thoracic hypoplasia	HP:0005257
10020	GNE	Generalized hypotonia	HP:0001290
10020	GNE	Shoulder girdle muscle atrophy	HP:0003724
10020	GNE	Episodic abdominal pain	HP:0002574
10020	GNE	High, narrow palate	HP:0002705
10020	GNE	Abnormality of metabolism/homeostasis	HP:0001939
10020	GNE	Inguinal hernia	HP:0000023
10020	GNE	Coarse facial features	HP:0000280
10020	GNE	Synophrys	HP:0000664
10020	GNE	Hepatosplenomegaly	HP:0001433
10020	GNE	Distal muscle weakness	HP:0002460
10020	GNE	Epicanthus	HP:0000286
10020	GNE	Elevated serum creatine kinase	HP:0003236
10020	GNE	Sleep apnea	HP:0010535
10020	GNE	Expressive language delay	HP:0002474
10020	GNE	Lower limb amyotrophy	HP:0007210
10020	GNE	Wide nasal bridge	HP:0000431
10020	GNE	Dysostosis multiplex	HP:0000943
10020	GNE	Steppage gait	HP:0003376
10020	GNE	Memory impairment	HP:0002354
10020	GNE	Hypothyroidism	HP:0000821
10020	GNE	Generalized hirsutism	HP:0002230
10020	GNE	Long hallux	HP:0001847
10020	GNE	Hyperkinesis	HP:0002487
10020	GNE	EMG: positive sharp waves	HP:0030007
10020	GNE	Cholelithiasis	HP:0001081
10020	GNE	Hypertelorism	HP:0000316
10020	GNE	Prolonged partial thromboplastin time	HP:0003645
10020	GNE	EMG: myotonic discharges	HP:0100284
10020	GNE	Smooth philtrum	HP:0000319
10020	GNE	Hepatomegaly	HP:0002240
10020	GNE	Limited shoulder movement	HP:0006467
10020	GNE	Foot dorsiflexor weakness	HP:0009027
10020	GNE	Abnormality of the mitochondrion	HP:0012103
10020	GNE	Hoarse voice	HP:0001609
10020	GNE	Muscle fiber inclusion bodies	HP:0100299
10020	GNE	Deposits immunoreactive to beta-amyloid protein	HP:0003791
10020	GNE	Splenomegaly	HP:0001744
10020	GNE	2-3 toe syndactyly	HP:0004691
10020	GNE	Prominent forehead	HP:0011220
10020	GNE	Long philtrum	HP:0000343
10020	GNE	Frontal bossing	HP:0002007
10020	GNE	Prolonged prothrombin time	HP:0008151
10020	GNE	Scoliosis	HP:0002650
10020	GNE	High palate	HP:0000218
10020	GNE	Thin upper lip vermilion	HP:0000219
10020	GNE	Shoulder girdle muscle weakness	HP:0003547
10020	GNE	Upper airway obstruction	HP:0002781
10020	GNE	Rimmed vacuoles	HP:0003805
10020	GNE	Elevated hepatic transaminase	HP:0002910
10020	GNE	Seizures	HP:0001250
10020	GNE	Hip flexor weakness	HP:0012515
10020	GNE	Increased variability in muscle fiber diameter	HP:0003557
10020	GNE	Joint hypermobility	HP:0001382
10020	GNE	Cardiomyopathy	HP:0001638
10020	GNE	Intellectual disability, mild	HP:0001256
10020	GNE	Attention deficit hyperactivity disorder	HP:0007018
10020	GNE	Scapular winging	HP:0003691
10020	GNE	Limited wrist extension	HP:0006251
10020	GNE	Distal amyotrophy	HP:0003693
10020	GNE	Absent Achilles reflex	HP:0003438
10020	GNE	Global developmental delay	HP:0001263
10020	GNE	Abnormality of the right hemidiaphragm	HP:0040047
10020	GNE	Low-set ears	HP:0000369
10020	GNE	Low posterior hairline	HP:0002162
10020	GNE	Mildly elevated creatine kinase	HP:0008180
10020	GNE	Periorbital fullness	HP:0000629
10020	GNE	Weakness of long finger extensor muscles	HP:0009077
10020	GNE	Spinal deformities	HP:0008443
10020	GNE	Hypoplastic nipples	HP:0002557
10020	GNE	Adult onset	HP:0003581
1828	DSG1	Orthokeratosis	HP:0040162
1828	DSG1	Epidermal acanthosis	HP:0025092
1828	DSG1	Growth delay	HP:0001510
1828	DSG1	Autosomal dominant inheritance	HP:0000006
1828	DSG1	Autosomal recessive inheritance	HP:0000007
1828	DSG1	Pulmonic stenosis	HP:0001642
1828	DSG1	Recurrent skin infections	HP:0001581
1828	DSG1	Streaks of hyperkeratosis along each finger onto the palm	HP:0007501
1828	DSG1	Hypotrichosis	HP:0001006
1828	DSG1	Onycholysis	HP:0001806
1828	DSG1	Hyperhidrosis	HP:0000975
1828	DSG1	Nail dystrophy	HP:0008404
1828	DSG1	Psoriasiform dermatitis	HP:0003765
1828	DSG1	Palmoplantar keratoderma	HP:0000982
1828	DSG1	Acantholysis	HP:0100792
1828	DSG1	Hypergranulosis	HP:0025114
1828	DSG1	Erythroderma	HP:0001019
1828	DSG1	Abnormal hair morphology	HP:0001595
1828	DSG1	Hypernatremia	HP:0003228
1828	DSG1	Recurrent respiratory infections	HP:0002205
1828	DSG1	Ventricular septal defect	HP:0001629
1828	DSG1	Abnormality of the nail	HP:0001597
1829	DSG2	EMG abnormality	HP:0003457
1829	DSG2	Lipoatrophy	HP:0100578
1829	DSG2	Elevated serum creatine kinase	HP:0003236
1829	DSG2	Autosomal dominant inheritance	HP:0000006
1829	DSG2	Palpitations	HP:0001962
1829	DSG2	Dilated cardiomyopathy	HP:0001644
1829	DSG2	Sudden cardiac death	HP:0001645
1829	DSG2	Right ventricular cardiomyopathy	HP:0011663
1829	DSG2	Heterogeneous	HP:0001425
1829	DSG2	Abnormality of neutrophils	HP:0001874
1829	DSG2	Ventricular tachycardia	HP:0004756
1829	DSG2	Palmoplantar keratoderma	HP:0000982
1829	DSG2	Sensorineural hearing impairment	HP:0000407
1829	DSG2	Ventricular extrasystoles	HP:0006682
1829	DSG2	Myopathy	HP:0003198
10021	HCN4	Mitral valve prolapse	HP:0001634
10021	HCN4	Autosomal dominant inheritance	HP:0000006
10021	HCN4	Left ventricular hypertrophy	HP:0001712
10021	HCN4	Ventricular tachycardia	HP:0004756
10021	HCN4	Atrial fibrillation	HP:0005110
10021	HCN4	Sick sinus syndrome	HP:0011704
10021	HCN4	Sinus bradycardia	HP:0001688
10021	HCN4	Congenital onset	HP:0003577
10021	HCN4	Left ventricular noncompaction	HP:0030682
10021	HCN4	ST segment elevation	HP:0012251
10021	HCN4	Aortic regurgitation	HP:0001659
10021	HCN4	Ventricular fibrillation	HP:0001663
10021	HCN4	Cardiac arrest	HP:0001695
116519	APOA5	Decreased HDL cholesterol concentration	HP:0003233
116519	APOA5	Increased VLDL cholesterol concentration	HP:0003362
116519	APOA5	Diabetes mellitus	HP:0000819
116519	APOA5	Autosomal dominant inheritance	HP:0000006
116519	APOA5	Decreased LDL cholesterol concentration	HP:0003563
116519	APOA5	Increased circulating chylomicron concentration	HP:0012238
91942	NDUFAF2	Feeding difficulties	HP:0011968
91942	NDUFAF2	Hyperreflexia	HP:0001347
91942	NDUFAF2	Pigmentary retinopathy	HP:0000580
91942	NDUFAF2	Central hypoventilation	HP:0007110
91942	NDUFAF2	Optic atrophy	HP:0000648
91942	NDUFAF2	Emotional lability	HP:0000712
91942	NDUFAF2	Decreased activity of mitochondrial respiratory chain	HP:0008972
91942	NDUFAF2	Focal T2 hyperintense basal ganglia lesion	HP:0007183
91942	NDUFAF2	Encephalopathy	HP:0001298
91942	NDUFAF2	Progressive cerebellar ataxia	HP:0002073
91942	NDUFAF2	Ophthalmoplegia	HP:0000602
91942	NDUFAF2	Progressive	HP:0003676
91942	NDUFAF2	Ventricular septal defect	HP:0001629
91942	NDUFAF2	Dysmetria	HP:0001310
91942	NDUFAF2	Dysphagia	HP:0002015
91942	NDUFAF2	External ophthalmoplegia	HP:0000544
91942	NDUFAF2	Seizures	HP:0001250
91942	NDUFAF2	Failure to thrive	HP:0001508
91942	NDUFAF2	Muscular hypotonia	HP:0001252
91942	NDUFAF2	Strabismus	HP:0000486
91942	NDUFAF2	Hypertrichosis	HP:0000998
91942	NDUFAF2	Peripheral neuropathy	HP:0009830
91942	NDUFAF2	Increased serum lactate	HP:0002151
91942	NDUFAF2	Hypertrophic cardiomyopathy	HP:0001639
91942	NDUFAF2	Progressive spastic paraplegia	HP:0007020
91942	NDUFAF2	Dysarthria	HP:0001260
91942	NDUFAF2	Hearing impairment	HP:0000365
91942	NDUFAF2	Anemia	HP:0001903
91942	NDUFAF2	Global developmental delay	HP:0001263
91942	NDUFAF2	Leukodystrophy	HP:0002415
91942	NDUFAF2	Intellectual disability, severe	HP:0010864
91942	NDUFAF2	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
91942	NDUFAF2	Leukoencephalopathy	HP:0002352
91942	NDUFAF2	Dystonia	HP:0001332
91942	NDUFAF2	Apnea	HP:0002104
91942	NDUFAF2	Increased CSF lactate	HP:0002490
91942	NDUFAF2	Abnormal mitochondria in muscle tissue	HP:0008316
91942	NDUFAF2	Ptosis	HP:0000508
91942	NDUFAF2	Respiratory failure	HP:0002878
91942	NDUFAF2	Nystagmus	HP:0000639
1832	DSP	Ichthyosis	HP:0008064
1832	DSP	Epidermal acanthosis	HP:0025092
1832	DSP	Autosomal dominant inheritance	HP:0000006
1832	DSP	Anonychia	HP:0001798
1832	DSP	Fragile skin	HP:0001030
1832	DSP	Syndactyly	HP:0001159
1832	DSP	Autosomal recessive inheritance	HP:0000007
1832	DSP	Parakeratosis	HP:0001036
1832	DSP	Sparse eyelashes	HP:0000653
1832	DSP	Right ventricular cardiomyopathy	HP:0011663
1832	DSP	Fragile nails	HP:0001808
1832	DSP	Heterogeneous	HP:0001425
1832	DSP	Ventricular tachycardia	HP:0004756
1832	DSP	Clubbing of fingers	HP:0100759
1832	DSP	Sparse and thin eyebrow	HP:0000535
1832	DSP	Ventricular extrasystoles	HP:0006682
1832	DSP	Tapered distal phalanges of finger	HP:0009884
1832	DSP	Leukonychia	HP:0001820
1832	DSP	Widely spaced toes	HP:0008094
1832	DSP	Pulmonary fibrosis	HP:0002206
1832	DSP	Erythema	HP:0010783
1832	DSP	Aplasia cutis congenita	HP:0001057
1832	DSP	Oral mucosal blisters	HP:0200097
1832	DSP	Reticular pattern on pulmonary HRCT	HP:0025390
1832	DSP	Woolly hair	HP:0002224
1832	DSP	Congenital bullous ichthyosiform erythroderma	HP:0007475
1832	DSP	Natal tooth	HP:0000695
1832	DSP	Esophageal ulceration	HP:0004791
1832	DSP	Acantholysis	HP:0100792
1832	DSP	Abnormal hair morphology	HP:0001595
1832	DSP	Exertional dyspnea	HP:0002875
1832	DSP	Sandal gap	HP:0001852
1832	DSP	Alopecia	HP:0001596
1832	DSP	Abnormality of the nail	HP:0001597
1832	DSP	Bronchiectasis	HP:0002110
1832	DSP	Cough	HP:0012735
1832	DSP	Edema	HP:0000969
1832	DSP	Reduced number of teeth	HP:0009804
1832	DSP	Pulmonary insufficiency	HP:0010444
1832	DSP	Phimosis	HP:0001741
1832	DSP	Finger clinodactyly	HP:0040019
1832	DSP	Patchy palmoplantar keratoderma	HP:0005588
1832	DSP	Nail dystrophy	HP:0008404
1832	DSP	Palmoplantar keratoderma	HP:0000982
1832	DSP	Honeycomb lung	HP:0025175
1832	DSP	Cardiomyocyte hypertrophy	HP:0031319
1832	DSP	Mitten deformity	HP:0004057
1832	DSP	Abnormality of the cardiovascular system	HP:0001626
1832	DSP	Ground-glass opacification on pulmonary HRCT	HP:0025179
1832	DSP	Pruritus	HP:0000989
1832	DSP	Gingival recession	HP:0030816
1832	DSP	Congestive heart failure	HP:0001635
1832	DSP	Neonatal death	HP:0003811
1832	DSP	Gastroesophageal reflux	HP:0002020
1832	DSP	Failure to thrive	HP:0001508
1832	DSP	Cardiomyopathy	HP:0001638
1832	DSP	Cardiomegaly	HP:0001640
1832	DSP	Skin erosion	HP:0200041
1832	DSP	Dilated cardiomyopathy	HP:0001644
1832	DSP	Sudden cardiac death	HP:0001645
1832	DSP	Crackles	HP:0030830
1832	DSP	Alopecia universalis	HP:0002289
1832	DSP	Tachycardia	HP:0001649
1832	DSP	Nail dysplasia	HP:0002164
1832	DSP	Palmoplantar keratosis with erythema and scale	HP:0007548
1832	DSP	Syncope	HP:0001279
1832	DSP	Ventricular fibrillation	HP:0001663
1834	DSPP	Dentinogenesis imperfecta limited to primary teeth	HP:0011060
1834	DSPP	Autosomal dominant inheritance	HP:0000006
1834	DSPP	Shell teeth	HP:0000694
1834	DSPP	Tinnitus	HP:0000360
1834	DSPP	Bilateral sensorineural hearing impairment	HP:0008619
1834	DSPP	Pulp stones	HP:0003771
1834	DSPP	Periapical bone loss	HP:0000700
1834	DSPP	High-frequency hearing impairment	HP:0005101
1834	DSPP	Dentinogenesis imperfecta	HP:0000703
1836	SLC26A2	Macrocephaly	HP:0000256
1836	SLC26A2	Umbilical hernia	HP:0001537
1836	SLC26A2	Protuberant abdomen	HP:0001538
1836	SLC26A2	Abnormality of the ribs	HP:0000772
1836	SLC26A2	Short ribs	HP:0000773
1836	SLC26A2	Narrow chest	HP:0000774
1836	SLC26A2	Autosomal recessive inheritance	HP:0000007
1836	SLC26A2	Abnormal enchondral ossification	HP:0003336
1836	SLC26A2	Wide nasal base	HP:0012810
1836	SLC26A2	Arthralgia	HP:0002829
1836	SLC26A2	Malar flattening	HP:0000272
1836	SLC26A2	Large earlobe	HP:0009748
1836	SLC26A2	Inguinal hernia	HP:0000023
1836	SLC26A2	Midface retrusion	HP:0011800
1836	SLC26A2	Polyhydramnios	HP:0001561
1836	SLC26A2	Short femur	HP:0003097
1836	SLC26A2	Cryptorchidism	HP:0000028
1836	SLC26A2	Laryngotracheal stenosis	HP:0004894
1836	SLC26A2	Epicanthus	HP:0000286
1836	SLC26A2	Full cheeks	HP:0000293
1836	SLC26A2	Pulmonary hypoplasia	HP:0002089
1836	SLC26A2	Genu valgum	HP:0002857
1836	SLC26A2	Flat capital femoral epiphysis	HP:0003370
1836	SLC26A2	Abnormality of epiphysis morphology	HP:0005930
1836	SLC26A2	Respiratory insufficiency	HP:0002093
1836	SLC26A2	Symphalangism affecting the phalanges of the hand	HP:0009773
1836	SLC26A2	Aplasia/Hypoplasia of the lungs	HP:0006703
1836	SLC26A2	Laryngeal cartilage malformation	HP:0008752
1836	SLC26A2	Metatarsus adductus	HP:0001840
1836	SLC26A2	Glabellar hemangioma	HP:0001076
1836	SLC26A2	Bell-shaped thorax	HP:0001591
1836	SLC26A2	Facial midline hemangioma	HP:0004664
1836	SLC26A2	Sandal gap	HP:0001852
1836	SLC26A2	Hypertelorism	HP:0000316
1836	SLC26A2	Joint hyperflexibility	HP:0005692
1836	SLC26A2	Short metacarpal	HP:0010049
1836	SLC26A2	Laryngeal stenosis	HP:0001602
1836	SLC26A2	Short thorax	HP:0010306
1836	SLC26A2	Hoarse voice	HP:0001609
1836	SLC26A2	Short phalanx of finger	HP:0009803
1836	SLC26A2	Plagiocephaly	HP:0001357
1836	SLC26A2	Flat face	HP:0012368
1836	SLC26A2	Blue sclerae	HP:0000592
1836	SLC26A2	Lethal skeletal dysplasia	HP:0005716
1836	SLC26A2	Irregular epiphyses	HP:0010582
1836	SLC26A2	Long philtrum	HP:0000343
1836	SLC26A2	Tibial torsion	HP:0100694
1836	SLC26A2	Bowing of the long bones	HP:0006487
1836	SLC26A2	Breech presentation	HP:0001623
1836	SLC26A2	Coronal cleft vertebrae	HP:0003417
1836	SLC26A2	Scoliosis	HP:0002650
1836	SLC26A2	Micrognathia	HP:0000347
1836	SLC26A2	Multiple epiphyseal dysplasia	HP:0002654
1836	SLC26A2	Thoracolumbar kyphoscoliosis	HP:0003423
1836	SLC26A2	Epiphyseal dysplasia	HP:0002656
1836	SLC26A2	Upper limb undergrowth	HP:0009824
1836	SLC26A2	Camptodactyly	HP:0012385
1836	SLC26A2	Hypoplasia of the femoral head	HP:0008802
1836	SLC26A2	Hip dysplasia	HP:0001385
1836	SLC26A2	Joint stiffness	HP:0001387
1836	SLC26A2	Flat acetabular roof	HP:0003180
1836	SLC26A2	Hearing impairment	HP:0000365
1836	SLC26A2	Horizontal sacrum	HP:0003440
1836	SLC26A2	Low-set, posteriorly rotated ears	HP:0000368
1836	SLC26A2	Clinodactyly of the 5th finger	HP:0004209
1836	SLC26A2	Short sacroiliac notch	HP:0003185
1836	SLC26A2	Low-set ears	HP:0000369
1836	SLC26A2	Small hand	HP:0200055
1836	SLC26A2	Broad phalanx	HP:0006009
1836	SLC26A2	Abnormality of the clavicle	HP:0000889
1836	SLC26A2	Lumbar hyperlordosis	HP:0002938
1836	SLC26A2	Short nose	HP:0003196
1836	SLC26A2	Rhizomelic arm shortening	HP:0004991
1836	SLC26A2	Spinal cord compression	HP:0002176
1836	SLC26A2	Cervical kyphosis	HP:0002947
1836	SLC26A2	Brachydactyly	HP:0001156
1836	SLC26A2	Thoracic hypoplasia	HP:0005257
1836	SLC26A2	Excessive femoral anteversion	HP:0012427
1836	SLC26A2	Abnormality of the metacarpal bones	HP:0001163
1836	SLC26A2	Camptodactyly of finger	HP:0100490
1836	SLC26A2	Overfolded helix	HP:0000396
1836	SLC26A2	Abnormality of metabolism/homeostasis	HP:0001939
1836	SLC26A2	Proximal placement of thumb	HP:0009623
1836	SLC26A2	Visceral angiomatosis	HP:0100761
1836	SLC26A2	Recurrent respiratory infections	HP:0002205
1836	SLC26A2	Platyspondyly	HP:0000926
1836	SLC26A2	Hypertrophic auricular cartilage	HP:0008608
1836	SLC26A2	Depressed nasal bridge	HP:0005280
1836	SLC26A2	Short finger	HP:0009381
1836	SLC26A2	Micromelia	HP:0002983
1836	SLC26A2	Disproportionate short-limb short stature	HP:0008873
1836	SLC26A2	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
1836	SLC26A2	Disproportionate short stature	HP:0003498
1836	SLC26A2	Elbow flexion contracture	HP:0002987
1836	SLC26A2	Equinovarus deformity	HP:0008110
1836	SLC26A2	Cleft palate	HP:0000175
1836	SLC26A2	Abnormality of the metaphysis	HP:0000944
1836	SLC26A2	Hypoplastic ilia	HP:0000946
1836	SLC26A2	Severe short stature	HP:0003510
1836	SLC26A2	Short middle phalanx of finger	HP:0005819
1836	SLC26A2	Femoral hernia	HP:0100541
1836	SLC26A2	Kyphoscoliosis	HP:0002751
1836	SLC26A2	Double-layered patella	HP:0031174
1836	SLC26A2	Osteoarthritis	HP:0002758
1836	SLC26A2	Abdominal distention	HP:0003270
1836	SLC26A2	Hip contracture	HP:0003273
1836	SLC26A2	Edema	HP:0000969
1836	SLC26A2	Broad metacarpals	HP:0001230
1836	SLC26A2	Hyperextensible skin	HP:0000974
1836	SLC26A2	Abnormal facial shape	HP:0001999
1836	SLC26A2	Anteverted nares	HP:0000463
1836	SLC26A2	Short long bone	HP:0003026
1836	SLC26A2	Hitchhiker thumb	HP:0001234
1836	SLC26A2	Cerebral calcification	HP:0002514
1836	SLC26A2	Short neck	HP:0000470
1836	SLC26A2	Frontal bossing	HP:0002007
1836	SLC26A2	Abnormality of cardiovascular system morphology	HP:0030680
1836	SLC26A2	Neonatal short-limb short stature	HP:0008921
1836	SLC26A2	Thickened nuchal skin fold	HP:0000474
1836	SLC26A2	Thin upper lip vermilion	HP:0000219
1836	SLC26A2	Cystic hygroma	HP:0000476
1836	SLC26A2	Short stature	HP:0004322
1836	SLC26A2	Talipes equinovarus	HP:0001762
1836	SLC26A2	Elbow dislocation	HP:0003042
1836	SLC26A2	Tracheobronchomalacia	HP:0002786
1836	SLC26A2	Cystic lesions of the pinnae	HP:0010723
1836	SLC26A2	Muscular hypotonia	HP:0001252
1836	SLC26A2	Abnormality of the patella	HP:0003045
1836	SLC26A2	Dumbbell-shaped femur	HP:0006375
1836	SLC26A2	Intrauterine growth retardation	HP:0001511
1836	SLC26A2	Limited elbow flexion	HP:0006376
1836	SLC26A2	Short foot	HP:0001773
1836	SLC26A2	Bilateral talipes equinovarus	HP:0001776
1836	SLC26A2	Bilateral cleft palate	HP:0100337
1836	SLC26A2	Abnormal form of the vertebral bodies	HP:0003312
1836	SLC26A2	Short lower limbs	HP:0006385
1836	SLC26A2	Hypoplastic cervical vertebrae	HP:0008434
1836	SLC26A2	Stillbirth	HP:0003826
1836	SLC26A2	Costal cartilage calcification	HP:0006646
1836	SLC26A2	Absent or minimally ossified vertebral bodies	HP:0004599
1836	SLC26A2	Kyphosis	HP:0002808
1836	SLC26A2	Ulnar deviation of finger	HP:0009465
1836	SLC26A2	Increased bone mineral density	HP:0011001
1836	SLC26A2	Telecanthus	HP:0000506
1836	SLC26A2	Hydrops fetalis	HP:0001789
1836	SLC26A2	Flattened epiphysis	HP:0003071
91949	COG7	Profound global developmental delay	HP:0012736
91949	COG7	Hepatomegaly	HP:0002240
91949	COG7	Feeding difficulties	HP:0011968
91949	COG7	Skeletal muscle atrophy	HP:0003202
91949	COG7	Decreased liver function	HP:0001410
91949	COG7	Upslanted palpebral fissure	HP:0000582
91949	COG7	Flat forehead	HP:0004425
91949	COG7	Short palpebral fissure	HP:0012745
91949	COG7	Generalized hypotonia	HP:0001290
91949	COG7	Cerebral atrophy	HP:0002059
91949	COG7	Abnormal facial shape	HP:0001999
91949	COG7	Narrow forehead	HP:0000341
91949	COG7	Retrognathia	HP:0000278
91949	COG7	Hypoglycemia	HP:0001943
91949	COG7	Micrognathia	HP:0000347
91949	COG7	Abnormal heart morphology	HP:0001627
91949	COG7	Adducted thumb	HP:0001181
91949	COG7	Elevated hepatic transaminase	HP:0002910
91949	COG7	Hypoplasia of the corpus callosum	HP:0002079
91949	COG7	Delayed myelination	HP:0012448
91949	COG7	Narrow mouth	HP:0000160
91949	COG7	Abnormality of immune system physiology	HP:0010978
91949	COG7	Seizures	HP:0001250
91949	COG7	Congestive heart failure	HP:0001635
91949	COG7	Muscular hypotonia	HP:0001252
91949	COG7	Gastroesophageal reflux	HP:0002020
91949	COG7	Failure to thrive	HP:0001508
91949	COG7	Elevated serum creatine kinase	HP:0003236
91949	COG7	Hypertrichosis	HP:0000998
91949	COG7	Low anterior hairline	HP:0000294
91949	COG7	Hypertrophic cardiomyopathy	HP:0001639
91949	COG7	Intrauterine growth retardation	HP:0001511
91949	COG7	Hearing impairment	HP:0000365
91949	COG7	Low-set ears	HP:0000369
91949	COG7	Thick vermilion border	HP:0012471
91949	COG7	Jaundice	HP:0000952
91949	COG7	Cerebellar atrophy	HP:0001272
91949	COG7	Protruding tongue	HP:0010808
91949	COG7	Abnormality of the pinna	HP:0000377
91949	COG7	Short nose	HP:0003196
91949	COG7	Overlapping fingers	HP:0010557
91949	COG7	Wide nose	HP:0000445
91949	COG7	Hydronephrosis	HP:0000126
91949	COG7	Smooth philtrum	HP:0000319
1837	DTNA	Left ventricular noncompaction cardiomyopathy	HP:0011664
1837	DTNA	Left ventricular hypertrophy	HP:0001712
1837	DTNA	Congestive heart failure	HP:0001635
1837	DTNA	Ventricular arrhythmia	HP:0004308
1837	DTNA	Mitral regurgitation	HP:0001653
1837	DTNA	Autosomal dominant inheritance	HP:0000006
1837	DTNA	Atrial fibrillation	HP:0005110
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
1848	DUSP6	Ichthyosis	HP:0008064
1848	DUSP6	Abnormality of body height	HP:0000002
1848	DUSP6	Gynecomastia	HP:0000771
1848	DUSP6	Absence of pubertal development	HP:0008197
1848	DUSP6	Autosomal dominant inheritance	HP:0000006
1848	DUSP6	Female hypogonadism	HP:0000134
1848	DUSP6	Autosomal recessive inheritance	HP:0000007
1848	DUSP6	Gait disturbance	HP:0001288
1848	DUSP6	Hypoplasia of the uterus	HP:0000013
1848	DUSP6	Decreased fertility	HP:0000144
1848	DUSP6	Primary amenorrhea	HP:0000786
1848	DUSP6	Hypoplasia of the ovary	HP:0008724
1848	DUSP6	Infertility	HP:0000789
1848	DUSP6	Sensorineural hearing impairment	HP:0000407
1848	DUSP6	Male hypogonadism	HP:0000026
1848	DUSP6	Cryptorchidism	HP:0000028
1848	DUSP6	Decreased testicular size	HP:0008734
1848	DUSP6	Erectile abnormalities	HP:0100639
1848	DUSP6	Depressed nasal bridge	HP:0005280
1848	DUSP6	Impotence	HP:0000802
1848	DUSP6	Abnormality of the dentition	HP:0000164
1848	DUSP6	Sparse axillary hair	HP:0002215
1848	DUSP6	Color vision defect	HP:0000551
1848	DUSP6	Osteopenia	HP:0000938
1848	DUSP6	Osteoporosis	HP:0000939
1848	DUSP6	Hypogonadotrophic hypogonadism	HP:0000044
1848	DUSP6	Muscle weakness	HP:0001324
1848	DUSP6	Cleft palate	HP:0000175
1848	DUSP6	Sparse pubic hair	HP:0002225
1848	DUSP6	Micropenis	HP:0000054
1848	DUSP6	Paraplegia	HP:0010550
1848	DUSP6	Delayed puberty	HP:0000823
1848	DUSP6	Bimanual synkinesia	HP:0001335
1848	DUSP6	Sparse body hair	HP:0002231
1848	DUSP6	Tremor	HP:0001337
1848	DUSP6	Hyposmia	HP:0004409
1848	DUSP6	Non-obstructive azoospermia	HP:0011961
1848	DUSP6	Hypertelorism	HP:0000316
1848	DUSP6	Delayed skeletal maturation	HP:0002750
1848	DUSP6	Anterior hypopituitarism	HP:0000830
1848	DUSP6	Dyspareunia	HP:0030016
1848	DUSP6	Increased female libido	HP:0030019
1848	DUSP6	Recurrent fractures	HP:0002757
1848	DUSP6	Eunuchoid habitus	HP:0003782
1848	DUSP6	Abnormality of the voice	HP:0001608
1848	DUSP6	Generalized joint laxity	HP:0002761
1848	DUSP6	Anosmia	HP:0000458
1848	DUSP6	Reduced number of teeth	HP:0009804
1848	DUSP6	Depressivity	HP:0000716
1848	DUSP6	Congenital sensorineural hearing impairment	HP:0008527
1848	DUSP6	Wide intermamillary distance	HP:0006610
1848	DUSP6	Abnormality of cardiovascular system morphology	HP:0030680
1848	DUSP6	Skeletal dysplasia	HP:0002652
1848	DUSP6	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
1848	DUSP6	Pes cavus	HP:0001761
1848	DUSP6	Camptodactyly	HP:0012385
1848	DUSP6	Seizures	HP:0001250
1848	DUSP6	Ataxia	HP:0001251
1848	DUSP6	Pes planus	HP:0001763
1848	DUSP6	Anxiety	HP:0000739
1848	DUSP6	Muscular hypotonia	HP:0001252
1848	DUSP6	Secondary amenorrhea	HP:0000869
1848	DUSP6	Renal agenesis	HP:0000104
1848	DUSP6	Obesity	HP:0001513
1848	DUSP6	Decreased serum testosterone level	HP:0040171
1848	DUSP6	Dysarthria	HP:0001260
1848	DUSP6	Hearing impairment	HP:0000365
1848	DUSP6	Breast hypoplasia	HP:0003187
1848	DUSP6	Visual impairment	HP:0000505
1848	DUSP6	Absence of secondary sex characteristics	HP:0008187
1848	DUSP6	Ptosis	HP:0000508
1848	DUSP6	Reduced bone mineral density	HP:0004349
1848	DUSP6	Nystagmus	HP:0000639
51002	TPRKB	Ventriculomegaly	HP:0002119
51002	TPRKB	Camptodactyly of finger	HP:0100490
51002	TPRKB	Abnormal facial shape	HP:0001999
51002	TPRKB	Macrotia	HP:0000400
51002	TPRKB	Pachygyria	HP:0001302
51002	TPRKB	Hemiplegia/hemiparesis	HP:0004374
51002	TPRKB	Premature birth	HP:0001622
51002	TPRKB	Peripheral demyelination	HP:0011096
51002	TPRKB	Hypotelorism	HP:0000601
51002	TPRKB	Micrognathia	HP:0000347
51002	TPRKB	Brain atrophy	HP:0012444
51002	TPRKB	Adducted thumb	HP:0001181
51002	TPRKB	Proteinuria	HP:0000093
51002	TPRKB	Epicanthus	HP:0000286
51002	TPRKB	Glomerulosclerosis	HP:0000096
51002	TPRKB	Abnormality of immune system physiology	HP:0010978
51002	TPRKB	Short stature	HP:0004322
51002	TPRKB	Seizures	HP:0001250
51002	TPRKB	Ataxia	HP:0001251
51002	TPRKB	Nephrotic syndrome	HP:0000100
51002	TPRKB	Abnormality of the dentition	HP:0000164
51002	TPRKB	Muscular hypotonia	HP:0001252
51002	TPRKB	Intrauterine growth retardation	HP:0001511
51002	TPRKB	Spasticity	HP:0001257
51002	TPRKB	Deeply set eye	HP:0000490
51002	TPRKB	Aqueductal stenosis	HP:0002410
51002	TPRKB	Hearing impairment	HP:0000365
51002	TPRKB	Mandibular prognathia	HP:0000303
51002	TPRKB	Global developmental delay	HP:0001263
51002	TPRKB	Nephropathy	HP:0000112
51002	TPRKB	Hypoplasia of the ear cartilage	HP:0100720
51002	TPRKB	EEG abnormality	HP:0002353
51002	TPRKB	Abnormality of the intervertebral disk	HP:0005108
51002	TPRKB	Hiatus hernia	HP:0002036
51002	TPRKB	Hypertelorism	HP:0000316
51002	TPRKB	Microcephaly	HP:0000252
51002	TPRKB	Hypertonia	HP:0001276
51002	TPRKB	Stage 5 chronic kidney disease	HP:0003774
51002	TPRKB	Cognitive impairment	HP:0100543
51004	COQ6	Focal segmental glomerulosclerosis	HP:0000097
51004	COQ6	Seizures	HP:0001250
51004	COQ6	Nephrotic syndrome	HP:0000100
51004	COQ6	Autosomal recessive inheritance	HP:0000007
51004	COQ6	Sensorineural hearing impairment	HP:0000407
51004	COQ6	Infantile onset	HP:0003593
51004	COQ6	Proteinuria	HP:0000093
51004	COQ6	Rapidly progressive	HP:0003678
51004	COQ6	Diffuse mesangial sclerosis	HP:0001967
10046	MAMLD1	Penoscrotal hypospadias	HP:0000808
10046	MAMLD1	X-linked recessive inheritance	HP:0001419
10046	MAMLD1	Hypospadias	HP:0000047
1855	DVL1	Macrocephaly	HP:0000256
1855	DVL1	Pectus carinatum	HP:0000768
1855	DVL1	Umbilical hernia	HP:0001537
1855	DVL1	Wide anterior fontanel	HP:0000260
1855	DVL1	Autosomal dominant inheritance	HP:0000006
1855	DVL1	Proptosis	HP:0000520
1855	DVL1	Hip dislocation	HP:0002827
1855	DVL1	Long eyelashes	HP:0000527
1855	DVL1	Malar flattening	HP:0000272
1855	DVL1	Retrognathia	HP:0000278
1855	DVL1	Inguinal hernia	HP:0000023
1855	DVL1	Midface retrusion	HP:0011800
1855	DVL1	Cryptorchidism	HP:0000028
1855	DVL1	Nevus flammeus	HP:0001052
1855	DVL1	Epicanthus	HP:0000286
1855	DVL1	Hypoplasia of penis	HP:0008736
1855	DVL1	Epispadias	HP:0000039
1855	DVL1	Broad thumb	HP:0011304
1855	DVL1	Broad toe	HP:0001837
1855	DVL1	Hypospadias	HP:0000047
1855	DVL1	Specific learning disability	HP:0001328
1855	DVL1	Short hard palate	HP:0010290
1855	DVL1	Median cleft lip and palate	HP:0008501
1855	DVL1	Micropenis	HP:0000054
1855	DVL1	Open bite	HP:0010807
1855	DVL1	Bifid tongue	HP:0010297
1855	DVL1	Hypoplastic labia majora	HP:0000059
1855	DVL1	Hypertelorism	HP:0000316
1855	DVL1	Alopecia	HP:0001596
1855	DVL1	Clitoral hypoplasia	HP:0000060
1855	DVL1	Increased number of teeth	HP:0011069
1855	DVL1	Bifid distal phalanx of toe	HP:0001853
1855	DVL1	Hypoplastic labia minora	HP:0000064
1855	DVL1	Short philtrum	HP:0000322
1855	DVL1	Upslanted palpebral fissure	HP:0000582
1855	DVL1	Renal duplication	HP:0000075
1855	DVL1	Blue sclerae	HP:0000592
1855	DVL1	Flat face	HP:0012368
1855	DVL1	Long philtrum	HP:0000343
1855	DVL1	Scoliosis	HP:0002650
1855	DVL1	Micrognathia	HP:0000347
1855	DVL1	High forehead	HP:0000348
1855	DVL1	Onychogryposis of fingernail	HP:0040036
1855	DVL1	Posteriorly rotated ears	HP:0000358
1855	DVL1	Euryblepharon	HP:0012905
1855	DVL1	Hip dysplasia	HP:0001385
1855	DVL1	Hearing impairment	HP:0000365
1855	DVL1	Avascular necrosis of the capital femoral epiphysis	HP:0005743
1855	DVL1	Low-set ears	HP:0000369
1855	DVL1	Coxa valga	HP:0002673
1855	DVL1	Clinodactyly of the 5th finger	HP:0004209
1855	DVL1	Small hand	HP:0200055
1855	DVL1	Nail dysplasia	HP:0002164
1855	DVL1	Hemivertebrae	HP:0002937
1855	DVL1	Thickened calvaria	HP:0002684
1855	DVL1	Short nose	HP:0003196
1855	DVL1	Short middle phalanx of the 5th finger	HP:0004220
1855	DVL1	Long palpebral fissure	HP:0000637
1855	DVL1	Hydronephrosis	HP:0000126
1855	DVL1	Brachydactyly	HP:0001156
1855	DVL1	Clinodactyly	HP:0030084
1855	DVL1	Camptodactyly of finger	HP:0100490
1855	DVL1	High, narrow palate	HP:0002705
1855	DVL1	Conductive hearing impairment	HP:0000405
1855	DVL1	Sensorineural hearing impairment	HP:0000407
1855	DVL1	Short distal phalanx of finger	HP:0009882
1855	DVL1	Downturned corners of mouth	HP:0002714
1855	DVL1	Duplication of the distal phalanx of hand	HP:0009883
1855	DVL1	Hypodontia	HP:0000668
1855	DVL1	Macroglossia	HP:0000158
1855	DVL1	Depressed nasal bridge	HP:0005280
1855	DVL1	Anodontia	HP:0000674
1855	DVL1	Oligodontia	HP:0000677
1855	DVL1	Dental crowding	HP:0000678
1855	DVL1	Micromelia	HP:0002983
1855	DVL1	Right ventricular outlet tract obstruction	HP:0001705
1855	DVL1	Delayed eruption of teeth	HP:0000684
1855	DVL1	Wide nasal bridge	HP:0000431
1855	DVL1	Dental malocclusion	HP:0000689
1855	DVL1	Severe short stature	HP:0003510
1855	DVL1	Short palm	HP:0004279
1855	DVL1	Capillary hemangioma	HP:0005306
1855	DVL1	Femoral hernia	HP:0100541
1855	DVL1	Wide nose	HP:0000445
1855	DVL1	Narrow palate	HP:0000189
1855	DVL1	Delayed skeletal maturation	HP:0002750
1855	DVL1	Fingernail dysplasia	HP:0100798
1855	DVL1	Sacral dimple	HP:0000960
1855	DVL1	Rhizomelia	HP:0008905
1855	DVL1	Oral cleft	HP:0000202
1855	DVL1	Triangular mouth	HP:0000207
1855	DVL1	Anteverted nares	HP:0000463
1855	DVL1	Ridged fingernail	HP:0008402
1855	DVL1	Mesomelia	HP:0003027
1855	DVL1	Gingival overgrowth	HP:0000212
1855	DVL1	Prominent forehead	HP:0011220
1855	DVL1	Finger syndactyly	HP:0006101
1855	DVL1	Short neck	HP:0000470
1855	DVL1	Frontal bossing	HP:0002007
1855	DVL1	High palate	HP:0000218
1855	DVL1	Thin upper lip vermilion	HP:0000219
1855	DVL1	Intellectual disability	HP:0001249
1855	DVL1	Short stature	HP:0004322
1855	DVL1	Elbow dislocation	HP:0003042
1855	DVL1	Strabismus	HP:0000486
1855	DVL1	Naevus flammeus of the eyelid	HP:0010733
1855	DVL1	Downslanted palpebral fissures	HP:0000494
1855	DVL1	Global developmental delay	HP:0001263
1855	DVL1	Curly eyelashes	HP:0007665
1855	DVL1	Congenital onset	HP:0003577
1855	DVL1	Increased bone mineral density	HP:0011001
1855	DVL1	Radial deviation of finger	HP:0009466
1855	DVL1	Ptosis	HP:0000508
1855	DVL1	Coxa vara	HP:0002812
1855	DVL1	Pectus excavatum	HP:0000767
51008	ASCC1	Esophageal carcinoma	HP:0011459
51008	ASCC1	Areflexia	HP:0001284
51008	ASCC1	Autosomal recessive inheritance	HP:0000007
51008	ASCC1	Generalized hypotonia	HP:0001290
51008	ASCC1	Neonatal respiratory distress	HP:0002643
51008	ASCC1	Somatic mutation	HP:0001428
51008	ASCC1	Peripheral axonal neuropathy	HP:0003477
51008	ASCC1	Premature birth	HP:0001622
51008	ASCC1	Decreased fetal movement	HP:0001558
51008	ASCC1	Polyhydramnios	HP:0001561
51008	ASCC1	Dysphagia	HP:0002015
51008	ASCC1	Multiple prenatal fractures	HP:0005855
51008	ASCC1	Gastroesophageal reflux	HP:0002020
51008	ASCC1	Spinal muscular atrophy	HP:0007269
51008	ASCC1	Increased variability in muscle fiber diameter	HP:0003557
51008	ASCC1	Barrett esophagus	HP:0100580
51008	ASCC1	Abnormal cortical gyration	HP:0002536
51008	ASCC1	Pulmonary hypoplasia	HP:0002089
51008	ASCC1	Patent ductus arteriosus	HP:0001643
51008	ASCC1	Muscle weakness	HP:0001324
51008	ASCC1	Severe muscular hypotonia	HP:0006829
51008	ASCC1	Global developmental delay	HP:0001263
51008	ASCC1	Arthrogryposis multiplex congenita	HP:0002804
51008	ASCC1	Patent foramen ovale	HP:0001655
51008	ASCC1	Axonal loss	HP:0003447
51008	ASCC1	Esophageal ulceration	HP:0004791
51008	ASCC1	Congenital onset	HP:0003577
51008	ASCC1	Respiratory failure	HP:0002878
10049	DNAJB6	Myofibrillar myopathy	HP:0003715
10049	DNAJB6	Bulbar palsy	HP:0001283
10049	DNAJB6	Fatty replacement of skeletal muscle	HP:0012548
10049	DNAJB6	Facial palsy	HP:0010628
10049	DNAJB6	Autosomal dominant inheritance	HP:0000006
10049	DNAJB6	Waddling gait	HP:0002515
10049	DNAJB6	Flexion contracture	HP:0001371
10049	DNAJB6	Shoulder girdle muscle weakness	HP:0003547
10049	DNAJB6	Rimmed vacuoles	HP:0003805
10049	DNAJB6	Slow progression	HP:0003677
10049	DNAJB6	Difficulty climbing stairs	HP:0003551
10049	DNAJB6	Dysphagia	HP:0002015
10049	DNAJB6	Muscle fiber splitting	HP:0003555
10049	DNAJB6	Elevated serum creatine kinase	HP:0003236
10049	DNAJB6	Increased variability in muscle fiber diameter	HP:0003557
10049	DNAJB6	Pelvic girdle muscle weakness	HP:0003749
10049	DNAJB6	Skeletal muscle fibrosis	HP:0030951
10049	DNAJB6	Muscular dystrophy	HP:0003560
10049	DNAJB6	Dysarthria	HP:0001260
10049	DNAJB6	Loss of ability to walk	HP:0006957
10049	DNAJB6	Dyspnea	HP:0002094
10049	DNAJB6	Percussion myotonia	HP:0010548
10049	DNAJB6	Generalized muscle weakness	HP:0003324
10049	DNAJB6	Adult onset	HP:0003581
10049	DNAJB6	Gowers sign	HP:0003391
1857	DVL3	Pectus carinatum	HP:0000768
1857	DVL3	Macrocephaly	HP:0000256
1857	DVL3	Umbilical hernia	HP:0001537
1857	DVL3	Wide anterior fontanel	HP:0000260
1857	DVL3	Autosomal dominant inheritance	HP:0000006
1857	DVL3	Proptosis	HP:0000520
1857	DVL3	Anteriorly placed anus	HP:0001545
1857	DVL3	Hip dislocation	HP:0002827
1857	DVL3	Long eyelashes	HP:0000527
1857	DVL3	Malar flattening	HP:0000272
1857	DVL3	Retrognathia	HP:0000278
1857	DVL3	Inguinal hernia	HP:0000023
1857	DVL3	Midface retrusion	HP:0011800
1857	DVL3	Cryptorchidism	HP:0000028
1857	DVL3	Nevus flammeus	HP:0001052
1857	DVL3	Epicanthus	HP:0000286
1857	DVL3	Hypoplasia of penis	HP:0008736
1857	DVL3	Epispadias	HP:0000039
1857	DVL3	Broad thumb	HP:0011304
1857	DVL3	Broad toe	HP:0001837
1857	DVL3	Hypospadias	HP:0000047
1857	DVL3	Specific learning disability	HP:0001328
1857	DVL3	Short hard palate	HP:0010290
1857	DVL3	Median cleft lip and palate	HP:0008501
1857	DVL3	Micropenis	HP:0000054
1857	DVL3	Open bite	HP:0010807
1857	DVL3	Bifid tongue	HP:0010297
1857	DVL3	Hypoplastic labia majora	HP:0000059
1857	DVL3	Hypertelorism	HP:0000316
1857	DVL3	Alopecia	HP:0001596
1857	DVL3	Clitoral hypoplasia	HP:0000060
1857	DVL3	Tricuspid regurgitation	HP:0005180
1857	DVL3	Increased number of teeth	HP:0011069
1857	DVL3	Bifid distal phalanx of toe	HP:0001853
1857	DVL3	Hypoplastic labia minora	HP:0000064
1857	DVL3	Short philtrum	HP:0000322
1857	DVL3	Upslanted palpebral fissure	HP:0000582
1857	DVL3	Pulmonary artery atresia	HP:0004935
1857	DVL3	Renal duplication	HP:0000075
1857	DVL3	Short phalanx of finger	HP:0009803
1857	DVL3	Blue sclerae	HP:0000592
1857	DVL3	Flat face	HP:0012368
1857	DVL3	Long philtrum	HP:0000343
1857	DVL3	Scoliosis	HP:0002650
1857	DVL3	Micrognathia	HP:0000347
1857	DVL3	Ventricular septal defect	HP:0001629
1857	DVL3	Onychogryposis of fingernail	HP:0040036
1857	DVL3	Posteriorly rotated ears	HP:0000358
1857	DVL3	Euryblepharon	HP:0012905
1857	DVL3	Hip dysplasia	HP:0001385
1857	DVL3	Patent ductus arteriosus	HP:0001643
1857	DVL3	Hearing impairment	HP:0000365
1857	DVL3	Avascular necrosis of the capital femoral epiphysis	HP:0005743
1857	DVL3	Low-set ears	HP:0000369
1857	DVL3	Coxa valga	HP:0002673
1857	DVL3	Clinodactyly of the 5th finger	HP:0004209
1857	DVL3	Small hand	HP:0200055
1857	DVL3	Nail dysplasia	HP:0002164
1857	DVL3	Patent foramen ovale	HP:0001655
1857	DVL3	Hemivertebrae	HP:0002937
1857	DVL3	Short nose	HP:0003196
1857	DVL3	Short middle phalanx of the 5th finger	HP:0004220
1857	DVL3	Long palpebral fissure	HP:0000637
1857	DVL3	Hydronephrosis	HP:0000126
1857	DVL3	Brachydactyly	HP:0001156
1857	DVL3	Clinodactyly	HP:0030084
1857	DVL3	Camptodactyly of finger	HP:0100490
1857	DVL3	High, narrow palate	HP:0002705
1857	DVL3	Downturned corners of mouth	HP:0002714
1857	DVL3	Duplication of the distal phalanx of hand	HP:0009883
1857	DVL3	Hypodontia	HP:0000668
1857	DVL3	Macroglossia	HP:0000158
1857	DVL3	Depressed nasal bridge	HP:0005280
1857	DVL3	Anodontia	HP:0000674
1857	DVL3	Oligodontia	HP:0000677
1857	DVL3	Dental crowding	HP:0000678
1857	DVL3	Micromelia	HP:0002983
1857	DVL3	Cleft lip	HP:0410030
1857	DVL3	Right ventricular outlet tract obstruction	HP:0001705
1857	DVL3	Delayed eruption of teeth	HP:0000684
1857	DVL3	Wide nasal bridge	HP:0000431
1857	DVL3	Cleft palate	HP:0000175
1857	DVL3	Dental malocclusion	HP:0000689
1857	DVL3	Severe short stature	HP:0003510
1857	DVL3	Short palm	HP:0004279
1857	DVL3	Capillary hemangioma	HP:0005306
1857	DVL3	Femoral hernia	HP:0100541
1857	DVL3	Wide nose	HP:0000445
1857	DVL3	Narrow palate	HP:0000189
1857	DVL3	Delayed skeletal maturation	HP:0002750
1857	DVL3	Fingernail dysplasia	HP:0100798
1857	DVL3	Sacral dimple	HP:0000960
1857	DVL3	Rhizomelia	HP:0008905
1857	DVL3	Oral cleft	HP:0000202
1857	DVL3	Hypoplastic right heart	HP:0010954
1857	DVL3	Agenesis of permanent teeth	HP:0006349
1857	DVL3	Anteverted nares	HP:0000463
1857	DVL3	Triangular mouth	HP:0000207
1857	DVL3	Webbed neck	HP:0000465
1857	DVL3	Ridged fingernail	HP:0008402
1857	DVL3	Mesomelia	HP:0003027
1857	DVL3	Gingival overgrowth	HP:0000212
1857	DVL3	Prominent forehead	HP:0011220
1857	DVL3	Finger syndactyly	HP:0006101
1857	DVL3	Short neck	HP:0000470
1857	DVL3	Frontal bossing	HP:0002007
1857	DVL3	High palate	HP:0000218
1857	DVL3	Thin upper lip vermilion	HP:0000219
1857	DVL3	Intellectual disability	HP:0001249
1857	DVL3	Elbow dislocation	HP:0003042
1857	DVL3	Short stature	HP:0004322
1857	DVL3	Strabismus	HP:0000486
1857	DVL3	Naevus flammeus of the eyelid	HP:0010733
1857	DVL3	Downslanted palpebral fissures	HP:0000494
1857	DVL3	Global developmental delay	HP:0001263
1857	DVL3	Curly eyelashes	HP:0007665
1857	DVL3	Kyphosis	HP:0002808
1857	DVL3	Radial deviation of finger	HP:0009466
1857	DVL3	Telecanthus	HP:0000506
1857	DVL3	Ptosis	HP:0000508
1857	DVL3	Coxa vara	HP:0002812
1857	DVL3	Pectus excavatum	HP:0000767
51010	EXOSC3	Absent speech	HP:0001344
51010	EXOSC3	Feeding difficulties	HP:0011968
51010	EXOSC3	Skeletal muscle atrophy	HP:0003202
51010	EXOSC3	Hyperreflexia	HP:0001347
51010	EXOSC3	Autosomal recessive inheritance	HP:0000007
51010	EXOSC3	Generalized hypotonia	HP:0001290
51010	EXOSC3	Hip dislocation	HP:0002827
51010	EXOSC3	Cerebral atrophy	HP:0002059
51010	EXOSC3	Oculomotor apraxia	HP:0000657
51010	EXOSC3	Flexion contracture	HP:0001371
51010	EXOSC3	Tongue fasciculations	HP:0001308
51010	EXOSC3	Abnormality of the foot	HP:0001760
51010	EXOSC3	Seizures	HP:0001250
51010	EXOSC3	Growth delay	HP:0001510
51010	EXOSC3	Strabismus	HP:0000486
51010	EXOSC3	Muscular hypotonia of the trunk	HP:0008936
51010	EXOSC3	Spasticity	HP:0001257
51010	EXOSC3	Retinal dystrophy	HP:0000556
51010	EXOSC3	Respiratory insufficiency	HP:0002093
51010	EXOSC3	Cerebellar cyst	HP:0002350
51010	EXOSC3	Global developmental delay	HP:0001263
51010	EXOSC3	Variable expressivity	HP:0003828
51010	EXOSC3	Poor head control	HP:0002421
51010	EXOSC3	Cerebellar atrophy	HP:0001272
51010	EXOSC3	Tongue atrophy	HP:0012473
51010	EXOSC3	Congenital onset	HP:0003577
51010	EXOSC3	Progressive microcephaly	HP:0000253
51010	EXOSC3	Nystagmus	HP:0000639
1859	DYRK1A	Febrile seizures	HP:0002373
1859	DYRK1A	Autosomal dominant inheritance	HP:0000006
1859	DYRK1A	Thickened helices	HP:0000391
1859	DYRK1A	Incoordination	HP:0002311
1859	DYRK1A	Cerebral cortical atrophy	HP:0002120
1859	DYRK1A	Gait disturbance	HP:0001288
1859	DYRK1A	Generalized hypotonia	HP:0001290
1859	DYRK1A	Stereotypical hand wringing	HP:0012171
1859	DYRK1A	Autism	HP:0000717
1859	DYRK1A	Severe global developmental delay	HP:0011344
1859	DYRK1A	Macrotia	HP:0000400
1859	DYRK1A	Happy demeanor	HP:0040082
1859	DYRK1A	Narrow forehead	HP:0000341
1859	DYRK1A	Hypotelorism	HP:0000601
1859	DYRK1A	Micrognathia	HP:0000347
1859	DYRK1A	Thin upper lip vermilion	HP:0000219
1859	DYRK1A	Hallux valgus	HP:0001822
1859	DYRK1A	Bulbous nose	HP:0000414
1859	DYRK1A	Recurrent infections	HP:0002719
1859	DYRK1A	Seizures	HP:0001250
1859	DYRK1A	Ataxia	HP:0001251
1859	DYRK1A	Intrauterine growth retardation	HP:0001511
1859	DYRK1A	Feeding difficulties in infancy	HP:0008872
1859	DYRK1A	Birth length less than 3rd percentile	HP:0003561
1859	DYRK1A	Deeply set eye	HP:0000490
1859	DYRK1A	Inappropriate laughter	HP:0000748
1859	DYRK1A	Small for gestational age	HP:0001518
1859	DYRK1A	Delayed speech and language development	HP:0000750
1859	DYRK1A	Intellectual disability, severe	HP:0010864
1859	DYRK1A	Hyperactivity	HP:0000752
1859	DYRK1A	Thick lower lip vermilion	HP:0000179
1859	DYRK1A	Abnormality of the pinna	HP:0000377
1859	DYRK1A	Failure to thrive in infancy	HP:0001531
1859	DYRK1A	Microcephaly	HP:0000252
1859	DYRK1A	Smooth philtrum	HP:0000319
1859	DYRK1A	Pectus excavatum	HP:0000767
1861	TOR1A	Blepharospasm	HP:0000643
1861	TOR1A	Anxiety	HP:0000739
1861	TOR1A	Spinal myoclonus	HP:0010531
1861	TOR1A	Muscular hypotonia	HP:0001252
1861	TOR1A	Abnormal posturing	HP:0002533
1861	TOR1A	Autosomal dominant inheritance	HP:0000006
1861	TOR1A	Gait disturbance	HP:0001288
1861	TOR1A	Abnormality of the voice	HP:0001608
1861	TOR1A	Generalized hypotonia	HP:0001290
1861	TOR1A	Hyperlordosis	HP:0003307
1861	TOR1A	Personality disorder	HP:0012075
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	Incomplete penetrance	HP:0003829
1861	TOR1A	Panic attack	HP:0025269
1861	TOR1A	Torsion dystonia	HP:0001304
1861	TOR1A	Kyphosis	HP:0002808
1861	TOR1A	Tremor	HP:0001337
1861	TOR1A	Torticollis	HP:0000473
1861	TOR1A	Scoliosis	HP:0002650
1861	TOR1A	Hypertonia	HP:0001276
1861	TOR1A	Limb myoclonus	HP:0045084
10056	FARSB	Thin bony cortex	HP:0002753
10056	FARSB	Short stature	HP:0004322
10056	FARSB	Interstitial pulmonary abnormality	HP:0006530
10056	FARSB	Muscular hypotonia	HP:0001252
10056	FARSB	Intestinal malrotation	HP:0002566
10056	FARSB	Autosomal recessive inheritance	HP:0000007
10056	FARSB	Headache	HP:0002315
10056	FARSB	Anemia	HP:0001903
10056	FARSB	Specific learning disability	HP:0001328
10056	FARSB	Dilatation of the cerebral artery	HP:0004944
10056	FARSB	Cirrhosis	HP:0001394
10056	FARSB	Cerebral calcification	HP:0002514
10056	FARSB	Prominent forehead	HP:0011220
10056	FARSB	Hypotelorism	HP:0000601
10056	FARSB	Scoliosis	HP:0002650
10056	FARSB	Exercise intolerance	HP:0003546
10056	FARSB	Microcephaly	HP:0000252
10056	FARSB	Reduced bone mineral density	HP:0004349
10056	FARSB	Delayed skeletal maturation	HP:0002750
10056	FARSB	Elevated hepatic transaminase	HP:0002910
10056	FARSB	Pectus excavatum	HP:0000767
10058	ABCB6	Cutaneous photosensitivity	HP:0000992
10058	ABCB6	Muscle spasm	HP:0003394
10058	ABCB6	Short stature	HP:0004322
10058	ABCB6	Episodic hemolytic anemia	HP:0004802
10058	ABCB6	Reticulocytosis	HP:0001923
10058	ABCB6	Autosomal dominant inheritance	HP:0000006
10058	ABCB6	Freckling	HP:0001480
10058	ABCB6	Hyperkalemia	HP:0002153
10058	ABCB6	Hypopigmented macule	HP:0020073
10058	ABCB6	Hand tremor	HP:0002378
10058	ABCB6	Hypermelanotic macule	HP:0001034
10058	ABCB6	Multiple cafe-au-lait spots	HP:0007565
10058	ABCB6	Hearing impairment	HP:0000365
10058	ABCB6	Coloboma	HP:0000589
10058	ABCB6	Increased mean corpuscular volume	HP:0005518
10058	ABCB6	Spotty hypopigmentation	HP:0005590
10058	ABCB6	Hypertension	HP:0000822
10058	ABCB6	Periodic paralysis	HP:0003768
10058	ABCB6	Microphthalmia	HP:0000568
10058	ABCB6	Generalized muscle weakness	HP:0003324
10058	ABCB6	Stomatocytosis	HP:0004446
10059	DNM1L	Feeding difficulties	HP:0011968
10059	DNM1L	Areflexia	HP:0001284
10059	DNM1L	Epileptic encephalopathy	HP:0200134
10059	DNM1L	Autosomal dominant inheritance	HP:0000006
10059	DNM1L	Autosomal recessive inheritance	HP:0000007
10059	DNM1L	Optic atrophy	HP:0000648
10059	DNM1L	Generalized hypotonia	HP:0001290
10059	DNM1L	Cerebral atrophy	HP:0002059
10059	DNM1L	Oculomotor apraxia	HP:0000657
10059	DNM1L	Encephalopathy	HP:0001298
10059	DNM1L	Status epilepticus	HP:0002133
10059	DNM1L	Decreased fetal movement	HP:0001558
10059	DNM1L	Abnormal pyramidal sign	HP:0007256
10059	DNM1L	Horizontal nystagmus	HP:0000666
10059	DNM1L	Central scotoma	HP:0000603
10059	DNM1L	Progressive	HP:0003676
10059	DNM1L	Slow progression	HP:0003677
10059	DNM1L	Failure to thrive	HP:0001508
10059	DNM1L	Strabismus	HP:0000486
10059	DNM1L	Tritanomaly	HP:0000552
10059	DNM1L	Deeply set eye	HP:0000490
10059	DNM1L	Global developmental delay	HP:0001263
10059	DNM1L	Death in infancy	HP:0001522
10059	DNM1L	Pointed chin	HP:0000307
10059	DNM1L	Slow decrease in visual acuity	HP:0007924
10059	DNM1L	Variable expressivity	HP:0003828
10059	DNM1L	Lactic acidosis	HP:0003128
10059	DNM1L	Microcephaly	HP:0000252
10060	ABCC9	Macrocephaly	HP:0000256
10060	ABCC9	EMG abnormality	HP:0003457
10060	ABCC9	Umbilical hernia	HP:0001537
10060	ABCC9	Large sella turcica	HP:0002690
10060	ABCC9	Abnormality of the hand	HP:0001155
10060	ABCC9	Autosomal dominant inheritance	HP:0000006
10060	ABCC9	Narrow chest	HP:0000774
10060	ABCC9	Congenital hypertrophy of left ventricle	HP:0005129
10060	ABCC9	Abnormality of the metacarpal bones	HP:0001163
10060	ABCC9	Craniofacial hyperostosis	HP:0004493
10060	ABCC9	Impaired myocardial contractility	HP:0006670
10060	ABCC9	Long eyelashes	HP:0000527
10060	ABCC9	Ventricular tachycardia	HP:0004756
10060	ABCC9	Paroxysmal atrial fibrillation	HP:0004757
10060	ABCC9	Sensorineural hearing impairment	HP:0000407
10060	ABCC9	Coarse facial features	HP:0000280
10060	ABCC9	Large hands	HP:0001176
10060	ABCC9	Synophrys	HP:0000664
10060	ABCC9	Cuboid-shaped vertebral bodies	HP:0004634
10060	ABCC9	Wide mouth	HP:0000154
10060	ABCC9	Short distal phalanx of finger	HP:0009882
10060	ABCC9	Bulbous nose	HP:0000414
10060	ABCC9	Platyspondyly	HP:0000926
10060	ABCC9	Epicanthus	HP:0000286
10060	ABCC9	Macroglossia	HP:0000158
10060	ABCC9	Tapered finger	HP:0001182
10060	ABCC9	Depressed nasal bridge	HP:0005280
10060	ABCC9	Pericardial effusion	HP:0001698
10060	ABCC9	Elevated serum creatine kinase	HP:0003236
10060	ABCC9	Low anterior hairline	HP:0000294
10060	ABCC9	Osteoporosis	HP:0000939
10060	ABCC9	Oral synechia	HP:0010285
10060	ABCC9	Wide nasal bridge	HP:0000431
10060	ABCC9	Abnormality of the metaphysis	HP:0000944
10060	ABCC9	Thickened skin	HP:0001072
10060	ABCC9	Thick lower lip vermilion	HP:0000179
10060	ABCC9	Generalized hirsutism	HP:0002230
10060	ABCC9	Thick vermilion border	HP:0012471
10060	ABCC9	Joint hyperflexibility	HP:0005692
10060	ABCC9	Hypertelorism	HP:0000316
10060	ABCC9	Congenital, generalized hypertrichosis	HP:0004540
10060	ABCC9	Palpebral edema	HP:0100540
10060	ABCC9	Delayed skeletal maturation	HP:0002750
10060	ABCC9	Thick eyebrow	HP:0000574
10060	ABCC9	Blepharophimosis	HP:0000581
10060	ABCC9	Widened posterior fossa	HP:0005445
10060	ABCC9	Broad hallux	HP:0010055
10060	ABCC9	Thick nasal alae	HP:0009928
10060	ABCC9	Metaphyseal widening	HP:0003016
10060	ABCC9	Broad hallux phalanx	HP:0010059
10060	ABCC9	Deep plantar creases	HP:0001869
10060	ABCC9	Anteverted nares	HP:0000463
10060	ABCC9	Prominent supraorbital ridges	HP:0000336
10060	ABCC9	Abnormality of neutrophils	HP:0001874
10060	ABCC9	Gingival overgrowth	HP:0000212
10060	ABCC9	Sloping forehead	HP:0000340
10060	ABCC9	Broad first metatarsal	HP:0010068
10060	ABCC9	Prominent forehead	HP:0011220
10060	ABCC9	Finger syndactyly	HP:0006101
10060	ABCC9	Palmoplantar keratoderma	HP:0000982
10060	ABCC9	Short neck	HP:0000470
10060	ABCC9	Long philtrum	HP:0000343
10060	ABCC9	Thick upper lip vermilion	HP:0000215
10060	ABCC9	Micrognathia	HP:0000347
10060	ABCC9	Skeletal dysplasia	HP:0002652
10060	ABCC9	Furrowed tongue	HP:0000221
10060	ABCC9	Intellectual disability	HP:0001249
10060	ABCC9	Seizures	HP:0001250
10060	ABCC9	Lipoatrophy	HP:0100578
10060	ABCC9	Ovoid vertebral bodies	HP:0003300
10060	ABCC9	Hypertrophic cardiomyopathy	HP:0001639
10060	ABCC9	Everted lower lip vermilion	HP:0000232
10060	ABCC9	Intellectual disability, mild	HP:0001256
10060	ABCC9	Cardiomegaly	HP:0001640
10060	ABCC9	Patent ductus arteriosus	HP:0001643
10060	ABCC9	Dilated cardiomyopathy	HP:0001644
10060	ABCC9	Lymphedema	HP:0001004
10060	ABCC9	Erlenmeyer flask deformity of the femurs	HP:0004975
10060	ABCC9	Bicuspid aortic valve	HP:0001647
10060	ABCC9	Accelerated skeletal maturation	HP:0005616
10060	ABCC9	Large for gestational age	HP:0001520
10060	ABCC9	Curly eyelashes	HP:0007665
10060	ABCC9	Coxa valga	HP:0002673
10060	ABCC9	Low posterior hairline	HP:0002162
10060	ABCC9	Broad ribs	HP:0000885
10060	ABCC9	Long nose	HP:0003189
10060	ABCC9	Abnormal heart valve morphology	HP:0001654
10060	ABCC9	Hypoplastic ischiopubic rami	HP:0008822
10060	ABCC9	Highly arched eyebrow	HP:0002553
10060	ABCC9	Short hallux	HP:0010109
10060	ABCC9	Myopathy	HP:0003198
51021	MRPS16	Brachydactyly	HP:0001156
51021	MRPS16	Redundant neck skin	HP:0005989
51021	MRPS16	Lethargy	HP:0001254
51021	MRPS16	Ventriculomegaly	HP:0002119
51021	MRPS16	Hypokinesia	HP:0002375
51021	MRPS16	Neonatal hypotonia	HP:0001319
51021	MRPS16	Autosomal recessive inheritance	HP:0000007
51021	MRPS16	Increased serum lactate	HP:0002151
51021	MRPS16	Feeding difficulties in infancy	HP:0008872
51021	MRPS16	Edema	HP:0000969
51021	MRPS16	Patent ductus arteriosus	HP:0001643
51021	MRPS16	Small for gestational age	HP:0001518
51021	MRPS16	Abnormal facial shape	HP:0001999
51021	MRPS16	Heterogeneous	HP:0001425
51021	MRPS16	Low-set ears	HP:0000369
51021	MRPS16	Lactic acidosis	HP:0003128
51021	MRPS16	Congenital onset	HP:0003577
51021	MRPS16	Agenesis of corpus callosum	HP:0001274
51021	MRPS16	Elevated hepatic transaminase	HP:0002910
51025	PAM16	Short ribs	HP:0000773
51025	PAM16	Narrow chest	HP:0000774
51025	PAM16	Dysplastic sacrum	HP:0008455
51025	PAM16	Hypokinesia	HP:0002375
51025	PAM16	Autosomal recessive inheritance	HP:0000007
51025	PAM16	Metaphyseal cupping	HP:0003021
51025	PAM16	Anteverted nares	HP:0000463
51025	PAM16	Short long bone	HP:0003026
51025	PAM16	Deep philtrum	HP:0002002
51025	PAM16	Iliac crest serration	HP:0008786
51025	PAM16	Prominent forehead	HP:0011220
51025	PAM16	Severe platyspondyly	HP:0004565
51025	PAM16	Wormian bones	HP:0002645
51025	PAM16	Short neck	HP:0000470
51025	PAM16	Frontal bossing	HP:0002007
51025	PAM16	Depressed nasal bridge	HP:0005280
51025	PAM16	Spondylometaphyseal dysplasia	HP:0002657
51025	PAM16	Short stature	HP:0004322
51025	PAM16	Tachypnea	HP:0002789
51025	PAM16	Microtia	HP:0008551
51025	PAM16	Hypoplastic ischia	HP:0003175
51025	PAM16	Micromelia	HP:0002983
51025	PAM16	Cardiomegaly	HP:0001640
51025	PAM16	Muscular hypotonia of the trunk	HP:0008936
51025	PAM16	Squared iliac bones	HP:0003177
51025	PAM16	Pulmonary arterial hypertension	HP:0002092
51025	PAM16	Small for gestational age	HP:0001518
51025	PAM16	Large fontanelles	HP:0000239
51025	PAM16	Global developmental delay	HP:0001263
51025	PAM16	Low-set ears	HP:0000369
51025	PAM16	Hypertension	HP:0000822
51025	PAM16	Round face	HP:0000311
51025	PAM16	Bell-shaped thorax	HP:0001591
51025	PAM16	Dilatation	HP:0002617
51025	PAM16	Short nose	HP:0003196
51025	PAM16	Wide nose	HP:0000445
51025	PAM16	Delayed skeletal maturation	HP:0002750
10075	HUWE1	Macrocephaly	HP:0000256
10075	HUWE1	Ankle contracture	HP:0006466
10075	HUWE1	Hyperreflexia	HP:0001347
10075	HUWE1	X-linked inheritance	HP:0001417
10075	HUWE1	Abnormal fingernail morphology	HP:0001231
10075	HUWE1	Holoprosencephaly	HP:0001360
10075	HUWE1	Delayed gross motor development	HP:0002194
10075	HUWE1	Long face	HP:0000276
10075	HUWE1	Coarse facial features	HP:0000280
10075	HUWE1	Hypotelorism	HP:0000601
10075	HUWE1	Tapered finger	HP:0001182
10075	HUWE1	Female infertility	HP:0008222
10075	HUWE1	Limited elbow extension	HP:0001377
10075	HUWE1	Intellectual disability	HP:0001249
10075	HUWE1	Seizures	HP:0001250
10075	HUWE1	Intellectual disability, moderate	HP:0002342
10075	HUWE1	Intellectual disability, mild	HP:0001256
10075	HUWE1	Obesity	HP:0001513
10075	HUWE1	Downslanted palpebral fissures	HP:0000494
10075	HUWE1	Delayed speech and language development	HP:0000750
10075	HUWE1	Global developmental delay	HP:0001263
10075	HUWE1	Intellectual disability, severe	HP:0010864
10075	HUWE1	Pointed chin	HP:0000307
10075	HUWE1	Macroorchidism	HP:0000053
10075	HUWE1	Absent nares	HP:0100596
10075	HUWE1	Hypertonia	HP:0001276
1889	ECE1	Hyperconvex nail	HP:0001795
1889	ECE1	Autosomal dominant inheritance	HP:0000006
1889	ECE1	Sepsis	HP:0100806
1889	ECE1	Agitation	HP:0000713
1889	ECE1	Aganglionic megacolon	HP:0002251
1889	ECE1	Intestinal polyposis	HP:0200008
1889	ECE1	Status epilepticus	HP:0002133
1889	ECE1	Sensorineural hearing impairment	HP:0000407
1889	ECE1	Contractures of the interphalangeal joint of the thumb	HP:0009626
1889	ECE1	Ventricular septal defect	HP:0001629
1889	ECE1	Adducted thumb	HP:0001181
1889	ECE1	Tapered finger	HP:0001182
1889	ECE1	Bulbous nose	HP:0000414
1889	ECE1	Diarrhea	HP:0002014
1889	ECE1	Intestinal obstruction	HP:0005214
1889	ECE1	Atrial septal defect	HP:0001631
1889	ECE1	Weight loss	HP:0001824
1889	ECE1	Intellectual disability	HP:0001249
1889	ECE1	Nausea and vomiting	HP:0002017
1889	ECE1	Short stature	HP:0004322
1889	ECE1	Constipation	HP:0002019
1889	ECE1	Posteriorly rotated ears	HP:0000358
1889	ECE1	Prominent nasal bridge	HP:0000426
1889	ECE1	Patent ductus arteriosus	HP:0001643
1889	ECE1	Abdominal pain	HP:0002027
1889	ECE1	Abnormal autonomic nervous system physiology	HP:0012332
1889	ECE1	Tachycardia	HP:0001649
1889	ECE1	Micropenis	HP:0000054
1889	ECE1	Hypertension	HP:0000822
1889	ECE1	Cupped ear	HP:0000378
1889	ECE1	Failure to thrive in infancy	HP:0001531
1889	ECE1	Short nose	HP:0003196
1889	ECE1	Neoplasm of the thyroid gland	HP:0100031
10082	GPC6	Increased nuchal translucency	HP:0010880
10082	GPC6	Umbilical hernia	HP:0001537
10082	GPC6	Abnormality of the radius	HP:0002818
10082	GPC6	Limited elbow flexion/extension	HP:0005060
10082	GPC6	Hemangioma	HP:0001028
10082	GPC6	Blepharophimosis	HP:0000581
10082	GPC6	Autosomal recessive inheritance	HP:0000007
10082	GPC6	Abnormality of femur morphology	HP:0002823
10082	GPC6	Rhizomelia	HP:0008905
10082	GPC6	Increased fibular diameter	HP:0012107
10082	GPC6	Anteverted nares	HP:0000463
10082	GPC6	Flat face	HP:0012368
10082	GPC6	Malar flattening	HP:0000272
10082	GPC6	Mesomelia	HP:0003027
10082	GPC6	Craniosynostosis	HP:0001363
10082	GPC6	Short neck	HP:0000470
10082	GPC6	Long philtrum	HP:0000343
10082	GPC6	Frontal bossing	HP:0002007
10082	GPC6	Abnormality of cardiovascular system morphology	HP:0030680
10082	GPC6	Micrognathia	HP:0000347
10082	GPC6	Popliteal pterygium	HP:0009756
10082	GPC6	Cryptorchidism	HP:0000028
10082	GPC6	Limited knee flexion/extension	HP:0005085
10082	GPC6	Ventricular septal defect	HP:0001629
10082	GPC6	Epicanthus	HP:0000286
10082	GPC6	Fibular hypoplasia	HP:0003038
10082	GPC6	Atrial septal defect	HP:0001631
10082	GPC6	Short humerus	HP:0005792
10082	GPC6	Limited hip movement	HP:0008800
10082	GPC6	Depressed nasal bridge	HP:0005280
10082	GPC6	Narrow palpebral fissure	HP:0045025
10082	GPC6	Hypoplastic distal humeri	HP:0005025
10082	GPC6	Intellectual disability	HP:0001249
10082	GPC6	Elbow dislocation	HP:0003042
10082	GPC6	Pterygium	HP:0001059
10082	GPC6	Axillary pterygium	HP:0001060
10082	GPC6	Posteriorly rotated ears	HP:0000358
10082	GPC6	Micromelia	HP:0002983
10082	GPC6	Short tibia	HP:0005736
10082	GPC6	Disproportionate short-limb short stature	HP:0008873
10082	GPC6	Wide nasal bridge	HP:0000431
10082	GPC6	Abnormality of the metaphysis	HP:0000944
10082	GPC6	Low-set ears	HP:0000369
10082	GPC6	Hernia	HP:0100790
10082	GPC6	Anterolateral radial head dislocation	HP:0005050
10082	GPC6	Short nose	HP:0003196
10082	GPC6	Pulmonary artery stenosis	HP:0004415
1890	TYMP	Ragged-red muscle fibers	HP:0003200
1890	TYMP	Abnormality of the hand	HP:0001155
1890	TYMP	Areflexia	HP:0001284
1890	TYMP	Death in early adulthood	HP:0100613
1890	TYMP	Autosomal recessive inheritance	HP:0000007
1890	TYMP	Intestinal perforation	HP:0031368
1890	TYMP	Gastroparesis	HP:0002578
1890	TYMP	Gastrointestinal dysmotility	HP:0002579
1890	TYMP	Hyperalaninemia	HP:0003348
1890	TYMP	Peripheral axonal neuropathy	HP:0003477
1890	TYMP	Sensorineural hearing impairment	HP:0000407
1890	TYMP	Mitochondrial myopathy	HP:0003737
1890	TYMP	Distal muscle weakness	HP:0002460
1890	TYMP	External ophthalmoplegia	HP:0000544
1890	TYMP	Malnutrition	HP:0004395
1890	TYMP	Hypogonadotrophic hypogonadism	HP:0000044
1890	TYMP	Poor appetite	HP:0004396
1890	TYMP	Hypergonadotropic hypogonadism	HP:0000815
1890	TYMP	Leukoencephalopathy	HP:0002352
1890	TYMP	Small intestinal dysmotility	HP:0012850
1890	TYMP	Lactic acidosis	HP:0003128
1890	TYMP	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
1890	TYMP	Easy fatigability	HP:0003388
1890	TYMP	Atrophic muscularis propria	HP:0025149
1890	TYMP	Hypointensity of cerebral white matter on MRI	HP:0007103
1890	TYMP	Foot dorsiflexor weakness	HP:0009027
1890	TYMP	Abnormality of the cerebral white matter	HP:0002500
1890	TYMP	Demyelinating peripheral neuropathy	HP:0007108
1890	TYMP	Abdominal distention	HP:0003270
1890	TYMP	Abnormality of the mitochondrion	HP:0012103
1890	TYMP	Paresthesia	HP:0003401
1890	TYMP	Intermittent diarrhea	HP:0002254
1890	TYMP	Progressive external ophthalmoplegia	HP:0000590
1890	TYMP	Dementia	HP:0000726
1890	TYMP	Progressive	HP:0003676
1890	TYMP	Subsarcolemmal accumulations of abnormally shaped mitochondria	HP:0003548
1890	TYMP	Vomiting	HP:0002013
1890	TYMP	Diarrhea	HP:0002014
1890	TYMP	Elevated hepatic transaminase	HP:0002910
1890	TYMP	Dysphagia	HP:0002015
1890	TYMP	Intellectual disability	HP:0001249
1890	TYMP	Nausea	HP:0002018
1890	TYMP	Constipation	HP:0002019
1890	TYMP	Gastroesophageal reflux	HP:0002020
1890	TYMP	Sensorimotor neuropathy	HP:0007141
1890	TYMP	Cachexia	HP:0004326
1890	TYMP	Decreased motor nerve conduction velocity	HP:0003431
1890	TYMP	Malabsorption	HP:0002024
1890	TYMP	Cytochrome C oxidase-negative muscle fibers	HP:0003688
1890	TYMP	Multiple mitochondrial DNA deletions	HP:0003689
1890	TYMP	Increased CSF protein	HP:0002922
1890	TYMP	Abdominal pain	HP:0002027
1890	TYMP	Distal amyotrophy	HP:0003693
1890	TYMP	Anemia	HP:0001903
1890	TYMP	Abnormality of the extraocular muscles	HP:0008049
1890	TYMP	Cirrhosis	HP:0001394
1890	TYMP	Abnormal cell morphology	HP:0025461
1890	TYMP	Decreased sensory nerve conduction velocity	HP:0003448
1890	TYMP	Distal sensory impairment	HP:0002936
1890	TYMP	Macrovesicular hepatic steatosis	HP:0001403
1890	TYMP	Ptosis	HP:0000508
1890	TYMP	Slender build	HP:0001533
1890	TYMP	Decreased muscle mass	HP:0003199
92002	CCNQ	Duane anomaly	HP:0009921
92002	CCNQ	Labial hypoplasia	HP:0000066
92002	CCNQ	Syringomyelia	HP:0003396
92002	CCNQ	Abnormal cardiac septum morphology	HP:0001671
92002	CCNQ	Broad nasal tip	HP:0000455
92002	CCNQ	Macular dystrophy	HP:0007754
92002	CCNQ	Lop ear	HP:0000394
92002	CCNQ	Vesicoureteral reflux	HP:0000076
92002	CCNQ	Narrow nose	HP:0000460
92002	CCNQ	Rectovaginal fistula	HP:0000143
92002	CCNQ	X-linked dominant inheritance	HP:0001423
92002	CCNQ	Renal insufficiency	HP:0000083
92002	CCNQ	Craniosynostosis	HP:0001363
92002	CCNQ	Horseshoe kidney	HP:0000085
92002	CCNQ	Ectopic kidney	HP:0000086
92002	CCNQ	Clitoral hypertrophy	HP:0008665
92002	CCNQ	Thin upper lip vermilion	HP:0000219
92002	CCNQ	Bulbous nose	HP:0000414
92002	CCNQ	Myopia	HP:0000545
92002	CCNQ	Short stature	HP:0004322
92002	CCNQ	Seizures	HP:0001250
92002	CCNQ	Spina bifida occulta	HP:0003298
92002	CCNQ	Anal atresia	HP:0002023
92002	CCNQ	Intrauterine growth retardation	HP:0001511
92002	CCNQ	Hypoplasia of the radius	HP:0002984
92002	CCNQ	Renal agenesis	HP:0000104
92002	CCNQ	Mitral atresia	HP:0011560
92002	CCNQ	Anal stenosis	HP:0002025
92002	CCNQ	Peripheral pulmonary artery stenosis	HP:0004969
92002	CCNQ	Toe syndactyly	HP:0001770
92002	CCNQ	Bicornuate uterus	HP:0000813
92002	CCNQ	Small for gestational age	HP:0001518
92002	CCNQ	Wide nasal bridge	HP:0000431
92002	CCNQ	Bicuspid aortic valve	HP:0001647
92002	CCNQ	Eyelid coloboma	HP:0000625
92002	CCNQ	Clinodactyly of the 5th finger	HP:0004209
92002	CCNQ	Low-set ears	HP:0000369
92002	CCNQ	Abnormality of the pinna	HP:0000377
92002	CCNQ	Telecanthus	HP:0000506
92002	CCNQ	Aortic regurgitation	HP:0001659
92002	CCNQ	Pelvic kidney	HP:0000125
92002	CCNQ	Pulmonary artery stenosis	HP:0004415
10083	USH1C	Abnormal electroretinogram	HP:0000512
10083	USH1C	Aplasia/Hypoplasia of the cerebellum	HP:0007360
10083	USH1C	Cataract	HP:0000518
10083	USH1C	Autosomal recessive inheritance	HP:0000007
10083	USH1C	Cerebral cortical atrophy	HP:0002120
10083	USH1C	Depressivity	HP:0000716
10083	USH1C	Congenital sensorineural hearing impairment	HP:0008527
10083	USH1C	Schizophrenia	HP:0100753
10083	USH1C	Heterogeneous	HP:0001425
10083	USH1C	Nyctalopia	HP:0000662
10083	USH1C	Sensorineural hearing impairment	HP:0000407
10083	USH1C	Hemianopia	HP:0012377
10083	USH1C	Vestibular hypofunction	HP:0001756
10083	USH1C	Intellectual disability	HP:0001249
10083	USH1C	Hallucinations	HP:0000738
10083	USH1C	Ataxia	HP:0001251
10083	USH1C	Anxiety	HP:0000739
10083	USH1C	Undetectable electroretinogram	HP:0000550
10083	USH1C	Abnormality of dental enamel	HP:0000682
10083	USH1C	Absent vestibular function	HP:0008555
10083	USH1C	Global developmental delay	HP:0001263
10083	USH1C	Iris hypopigmentation	HP:0007730
10083	USH1C	High hypermetropia	HP:0008499
10083	USH1C	Motor delay	HP:0001270
10083	USH1C	Abnormal cochlea morphology	HP:0000375
10083	USH1C	Visual loss	HP:0000572
10083	USH1C	Subcortical cerebral atrophy	HP:0012157
10083	USH1C	Rod-cone dystrophy	HP:0000510
10083	USH1C	Scotoma	HP:0000575
10084	PQBP1	Joint contracture of the hand	HP:0009473
10084	PQBP1	Sparse hair	HP:0008070
10084	PQBP1	Cataract	HP:0000518
10084	PQBP1	Abnormality of the rib cage	HP:0001547
10084	PQBP1	X-linked recessive inheritance	HP:0001419
10084	PQBP1	Cerebral atrophy	HP:0002059
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	Epicanthus	HP:0000286
10084	PQBP1	Macroglossia	HP:0000158
10084	PQBP1	Bulbous nose	HP:0000414
10084	PQBP1	Decreased testicular size	HP:0008734
10084	PQBP1	Narrow mouth	HP:0000160
10084	PQBP1	Situs inversus totalis	HP:0001696
10084	PQBP1	Ankylosis	HP:0031013
10084	PQBP1	Cleft palate	HP:0000175
10084	PQBP1	Wide nasal bridge	HP:0000431
10084	PQBP1	Hypospadias	HP:0000047
10084	PQBP1	Mandibular prognathia	HP:0000303
10084	PQBP1	Microphthalmia	HP:0000568
10084	PQBP1	Abnormal hair morphology	HP:0001595
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	Sparse lateral eyebrow	HP:0005338
10084	PQBP1	High palate	HP:0000218
10084	PQBP1	Scoliosis	HP:0002650
10084	PQBP1	Micrognathia	HP:0000347
10084	PQBP1	Thin upper lip vermilion	HP:0000219
10084	PQBP1	Ventricular septal defect	HP:0001629
10084	PQBP1	Dry hair	HP:0011359
10084	PQBP1	Atrial septal defect	HP:0001631
10084	PQBP1	Intellectual disability	HP:0001249
10084	PQBP1	Camptodactyly	HP:0012385
10084	PQBP1	Pes cavus	HP:0001761
10084	PQBP1	Seizures	HP:0001250
10084	PQBP1	Short stature	HP:0004322
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	Clinodactyly of the 5th finger	HP:0004209
10084	PQBP1	Poor suck	HP:0002033
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
1892	ECHS1	Hyperreflexia	HP:0001347
1892	ECHS1	Pigmentary retinopathy	HP:0000580
1892	ECHS1	Autosomal recessive inheritance	HP:0000007
1892	ECHS1	Optic atrophy	HP:0000648
1892	ECHS1	Emotional lability	HP:0000712
1892	ECHS1	Generalized hypotonia	HP:0001290
1892	ECHS1	Decreased activity of mitochondrial respiratory chain	HP:0008972
1892	ECHS1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
1892	ECHS1	Progressive cerebellar ataxia	HP:0002073
1892	ECHS1	Ophthalmoplegia	HP:0000602
1892	ECHS1	Ventricular septal defect	HP:0001629
1892	ECHS1	Seizures	HP:0001250
1892	ECHS1	Failure to thrive	HP:0001508
1892	ECHS1	Muscular hypotonia	HP:0001252
1892	ECHS1	Strabismus	HP:0000486
1892	ECHS1	Hypertrichosis	HP:0000998
1892	ECHS1	Peripheral neuropathy	HP:0009830
1892	ECHS1	Increased serum lactate	HP:0002151
1892	ECHS1	Hypertrophic cardiomyopathy	HP:0001639
1892	ECHS1	Spasticity	HP:0001257
1892	ECHS1	Progressive spastic paraplegia	HP:0007020
1892	ECHS1	Dysarthria	HP:0001260
1892	ECHS1	Hearing impairment	HP:0000365
1892	ECHS1	Global developmental delay	HP:0001263
1892	ECHS1	Anemia	HP:0001903
1892	ECHS1	Leukodystrophy	HP:0002415
1892	ECHS1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
1892	ECHS1	Intellectual disability, severe	HP:0010864
1892	ECHS1	Dystonia	HP:0001332
1892	ECHS1	Apnea	HP:0002104
1892	ECHS1	Increased CSF lactate	HP:0002490
1892	ECHS1	Ptosis	HP:0000508
1892	ECHS1	Nystagmus	HP:0000639
1893	ECM1	Abnormal blistering of the skin	HP:0008066
1893	ECM1	Hyperkeratosis	HP:0000962
1893	ECM1	Tongue nodules	HP:0000199
1893	ECM1	Autosomal recessive inheritance	HP:0000007
1893	ECM1	Hoarse voice	HP:0001609
1893	ECM1	Subcutaneous nodule	HP:0001482
1893	ECM1	Aggressive behavior	HP:0000718
1893	ECM1	Cerebral calcification	HP:0002514
1893	ECM1	Scarring	HP:0100699
1893	ECM1	High palate	HP:0000218
1893	ECM1	Recurrent respiratory infections	HP:0002205
1893	ECM1	Dysphagia	HP:0002015
1893	ECM1	Paranoia	HP:0011999
1893	ECM1	Papule	HP:0200034
1893	ECM1	Seizures	HP:0001250
1893	ECM1	Hallucinations	HP:0000738
1893	ECM1	Pustule	HP:0200039
1893	ECM1	Acne	HP:0001061
1893	ECM1	Nasal polyposis	HP:0100582
1893	ECM1	Bilateral intracranial calcifications	HP:0005671
1893	ECM1	Verrucae	HP:0200043
1893	ECM1	Abnormality of the gingiva	HP:0000168
1893	ECM1	Microglossia	HP:0000171
1893	ECM1	Thickened skin	HP:0001072
1893	ECM1	Memory impairment	HP:0002354
1893	ECM1	Thick lower lip vermilion	HP:0000179
1893	ECM1	Dystonia	HP:0001332
1893	ECM1	Alopecia of scalp	HP:0002293
1893	ECM1	Patchy alopecia	HP:0002232
10087	COL4A3BP	Drooling	HP:0002307
10087	COL4A3BP	Upslanted palpebral fissure	HP:0000582
10087	COL4A3BP	Autosomal dominant inheritance	HP:0000006
10087	COL4A3BP	Myopathic facies	HP:0002058
10087	COL4A3BP	Anteverted nares	HP:0000463
10087	COL4A3BP	Bilateral ptosis	HP:0001488
10087	COL4A3BP	Wide intermamillary distance	HP:0006610
10087	COL4A3BP	2-3 toe syndactyly	HP:0004691
10087	COL4A3BP	Generalized tonic-clonic seizures	HP:0002069
10087	COL4A3BP	Synophrys	HP:0000664
10087	COL4A3BP	Broad-based gait	HP:0002136
10087	COL4A3BP	Oligohydramnios	HP:0001562
10087	COL4A3BP	Stereotypy	HP:0000733
10087	COL4A3BP	Epicanthus	HP:0000286
10087	COL4A3BP	Coarse hair	HP:0002208
10087	COL4A3BP	Intellectual disability	HP:0001249
10087	COL4A3BP	Cerebral visual impairment	HP:0100704
10087	COL4A3BP	Curly hair	HP:0002212
10087	COL4A3BP	Muscular hypotonia of the trunk	HP:0008936
10087	COL4A3BP	Postnatal microcephaly	HP:0005484
10087	COL4A3BP	Hearing impairment	HP:0000365
10087	COL4A3BP	Short foot	HP:0001773
10087	COL4A3BP	Widely spaced teeth	HP:0000687
10087	COL4A3BP	Global developmental delay	HP:0001263
10087	COL4A3BP	Bruxism	HP:0003763
10087	COL4A3BP	Smooth philtrum	HP:0000319
1896	EDA	Absent nipple	HP:0002561
1896	EDA	X-linked recessive inheritance	HP:0001419
1896	EDA	Sparse eyelashes	HP:0000653
1896	EDA	X-linked dominant inheritance	HP:0001423
1896	EDA	Heterogeneous	HP:0001425
1896	EDA	Sparse and thin eyebrow	HP:0000535
1896	EDA	Fever	HP:0001945
1896	EDA	Short distal phalanx of finger	HP:0009882
1896	EDA	Hypodontia	HP:0000668
1896	EDA	Depressed nasal bridge	HP:0005280
1896	EDA	Anodontia	HP:0000674
1896	EDA	Oligodontia	HP:0000677
1896	EDA	Taurodontia	HP:0000679
1896	EDA	Aplasia/Hypoplastia of the eccrine sweat glands	HP:0007592
1896	EDA	Type I diabetes mellitus	HP:0100651
1896	EDA	Agenesis of premolar	HP:0011051
1896	EDA	Aplasia of the maxilla	HP:0010667
1896	EDA	Delayed eruption of teeth	HP:0000684
1896	EDA	Agenesis of molar	HP:0011054
1896	EDA	Underdeveloped nasal alae	HP:0000430
1896	EDA	Absent eyebrow	HP:0002223
1896	EDA	Absent eyelashes	HP:0000561
1896	EDA	Respiratory distress	HP:0002098
1896	EDA	Everted upper lip vermilion	HP:0010803
1896	EDA	Microdontia	HP:0000691
1896	EDA	Hypertension	HP:0000822
1896	EDA	Abnormal oral mucosa morphology	HP:0011830
1896	EDA	Sparse body hair	HP:0002231
1896	EDA	Thick vermilion border	HP:0012471
1896	EDA	Hypohidrotic ectodermal dysplasia	HP:0007607
1896	EDA	Conical tooth	HP:0000698
1896	EDA	Anterior hypopituitarism	HP:0000830
1896	EDA	Concave nail	HP:0001598
1896	EDA	Dry skin	HP:0000958
1896	EDA	Thin skin	HP:0000963
1896	EDA	Eczema	HP:0000964
1896	EDA	Hypohidrosis	HP:0000966
1896	EDA	Hypoplasia of the maxilla	HP:0000327
1896	EDA	Depressed nasal ridge	HP:0000457
1896	EDA	Hoarse voice	HP:0001609
1896	EDA	Anhidrosis	HP:0000970
1896	EDA	Short chin	HP:0000331
1896	EDA	Prominent supraorbital ridges	HP:0000336
1896	EDA	Soft skin	HP:0000977
1896	EDA	Periorbital hyperpigmentation	HP:0001106
1896	EDA	Dysphonia	HP:0001618
1896	EDA	Frontal bossing	HP:0002007
1896	EDA	Agenesis of lateral incisor	HP:0200153
1896	EDA	Micrognathia	HP:0000347
1896	EDA	Periorbital wrinkles	HP:0000607
1896	EDA	Rhinitis	HP:0012384
1896	EDA	Everted lower lip vermilion	HP:0000232
1896	EDA	Aplasia/Hypoplasia of the eyebrow	HP:0100840
1896	EDA	Hypotrichosis	HP:0001006
1896	EDA	Hypoplastic-absent sebaceous glands	HP:0007411
1896	EDA	Brittle hair	HP:0002299
1896	EDA	Short nose	HP:0003196
1896	EDA	Hypoplastic nipples	HP:0002557
1896	EDA	Heat intolerance	HP:0002046
51053	GMNN	Umbilical hernia	HP:0001537
51053	GMNN	Microtia, third degree	HP:0011267
51053	GMNN	Aplastic clavicle	HP:0006660
51053	GMNN	Abnormality of the ribs	HP:0000772
51053	GMNN	Autosomal dominant inheritance	HP:0000006
51053	GMNN	Camptodactyly of finger	HP:0100490
51053	GMNN	High, narrow palate	HP:0002705
51053	GMNN	Stenosis of the external auditory canal	HP:0000402
51053	GMNN	Conductive hearing impairment	HP:0000405
51053	GMNN	Retrognathia	HP:0000278
51053	GMNN	Simplified gyral pattern	HP:0009879
51053	GMNN	Midface retrusion	HP:0011800
51053	GMNN	Cryptorchidism	HP:0000028
51053	GMNN	Slender long bone	HP:0003100
51053	GMNN	Recurrent respiratory infections	HP:0002205
51053	GMNN	Atresia of the external auditory canal	HP:0000413
51053	GMNN	Delayed myelination	HP:0012448
51053	GMNN	Depressed nasal bridge	HP:0005280
51053	GMNN	Hypoplasia of penis	HP:0008736
51053	GMNN	Narrow mouth	HP:0000160
51053	GMNN	Anotia	HP:0009892
51053	GMNN	Epispadias	HP:0000039
51053	GMNN	Abnormality of epiphysis morphology	HP:0005930
51053	GMNN	Patellar aplasia	HP:0006443
51053	GMNN	Underdeveloped nasal alae	HP:0000430
51053	GMNN	Breast aplasia	HP:0100783
51053	GMNN	Cleft palate	HP:0000175
51053	GMNN	Hypospadias	HP:0000047
51053	GMNN	Specific learning disability	HP:0001328
51053	GMNN	Submucous cleft hard palate	HP:0000176
51053	GMNN	Emphysema	HP:0002097
51053	GMNN	Respiratory distress	HP:0002098
51053	GMNN	Microretrognathia	HP:0000308
51053	GMNN	Severe short stature	HP:0003510
51053	GMNN	Delayed puberty	HP:0000823
51053	GMNN	Thick vermilion border	HP:0012471
51053	GMNN	Growth hormone deficiency	HP:0000824
51053	GMNN	Hypoplastic labia majora	HP:0000059
51053	GMNN	Short middle phalanx of finger	HP:0005819
51053	GMNN	Sandal gap	HP:0001852
51053	GMNN	Clitoral hypoplasia	HP:0000060
51053	GMNN	Joint hyperflexibility	HP:0005692
51053	GMNN	Delayed skeletal maturation	HP:0002750
51053	GMNN	Respiratory failure	HP:0002878
51053	GMNN	Feeding difficulties	HP:0011968
51053	GMNN	Hypoplastic labia minora	HP:0000064
51053	GMNN	Laryngomalacia	HP:0001601
51053	GMNN	Bifid uvula	HP:0000193
51053	GMNN	Hypoplasia of the maxilla	HP:0000327
51053	GMNN	Depressed nasal ridge	HP:0000457
51053	GMNN	Anteverted nares	HP:0000463
51053	GMNN	Mandibular aplasia	HP:0009939
51053	GMNN	Craniosynostosis	HP:0001363
51053	GMNN	Frontal bossing	HP:0002007
51053	GMNN	Clitoral hypertrophy	HP:0008665
51053	GMNN	Micrognathia	HP:0000347
51053	GMNN	High forehead	HP:0000348
51053	GMNN	Intellectual disability	HP:0001249
51053	GMNN	Tracheobronchomalacia	HP:0002786
51053	GMNN	Elbow dislocation	HP:0003042
51053	GMNN	Gastroesophageal reflux	HP:0002020
51053	GMNN	Failure to thrive	HP:0001508
51053	GMNN	Strabismus	HP:0000486
51053	GMNN	Posteriorly rotated ears	HP:0000358
51053	GMNN	Microtia	HP:0008551
51053	GMNN	Intrauterine growth retardation	HP:0001511
51053	GMNN	Hip dysplasia	HP:0001385
51053	GMNN	Entropion	HP:0000621
51053	GMNN	Hearing impairment	HP:0000365
51053	GMNN	Delayed speech and language development	HP:0000750
51053	GMNN	Downslanted palpebral fissures	HP:0000494
51053	GMNN	Small for gestational age	HP:0001518
51053	GMNN	Global developmental delay	HP:0001263
51053	GMNN	Clinodactyly of the 5th finger	HP:0004209
51053	GMNN	Low-set ears	HP:0000369
51053	GMNN	Motor delay	HP:0001270
51053	GMNN	Short nose	HP:0003196
51053	GMNN	Microcephaly	HP:0000252
10095	ARPC1B	Decreased mean platelet volume	HP:0005537
10095	ARPC1B	Thrombocytopenia	HP:0001873
10095	ARPC1B	Vasculitis	HP:0002633
10095	ARPC1B	Lymphocytosis	HP:0100827
10095	ARPC1B	Lymphadenopathy	HP:0002716
10095	ARPC1B	Elevated erythrocyte sedimentation rate	HP:0003565
10095	ARPC1B	Recurrent infections	HP:0002719
51057	WDPCP	Abnormal electroretinogram	HP:0000512
51057	WDPCP	Skeletal muscle atrophy	HP:0003202
51057	WDPCP	Multicystic kidney dysplasia	HP:0000003
51057	WDPCP	Cataract	HP:0000518
51057	WDPCP	Sclerocornea	HP:0000647
51057	WDPCP	Autosomal recessive inheritance	HP:0000007
51057	WDPCP	Hypogonadism	HP:0000135
51057	WDPCP	Optic atrophy	HP:0000648
51057	WDPCP	Postaxial hand polydactyly	HP:0001162
51057	WDPCP	Complete atrioventricular canal defect	HP:0001674
51057	WDPCP	Anophthalmia	HP:0000528
51057	WDPCP	Coarctation of aorta	HP:0001680
51057	WDPCP	Subvalvular aortic stenosis	HP:0001682
51057	WDPCP	Anencephaly	HP:0002323
51057	WDPCP	Abnormal chorioretinal morphology	HP:0000532
51057	WDPCP	Hypoplasia of the ovary	HP:0008724
51057	WDPCP	Dandy-Walker malformation	HP:0001305
51057	WDPCP	Preaxial hand polydactyly	HP:0001177
51057	WDPCP	Oligohydramnios	HP:0001562
51057	WDPCP	Hamartoma of tongue	HP:0011802
51057	WDPCP	Cryptorchidism	HP:0000028
51057	WDPCP	Situs inversus totalis	HP:0001696
51057	WDPCP	Hypoplasia of penis	HP:0008736
51057	WDPCP	Encephalocele	HP:0002084
51057	WDPCP	Male pseudohermaphroditism	HP:0000037
51057	WDPCP	Full cheeks	HP:0000293
51057	WDPCP	Postaxial foot polydactyly	HP:0001830
51057	WDPCP	Prominent nasal bridge	HP:0000426
51057	WDPCP	Cleft palate	HP:0000175
51057	WDPCP	Cystic liver disease	HP:0006706
51057	WDPCP	Congenital hepatic fibrosis	HP:0002612
51057	WDPCP	Hypertension	HP:0000822
51057	WDPCP	Generalized hirsutism	HP:0002230
51057	WDPCP	Aplasia/Hypoplasia of the tongue	HP:0010295
51057	WDPCP	Microphthalmia	HP:0000568
51057	WDPCP	Hypertelorism	HP:0000316
51057	WDPCP	Urethral atresia	HP:0000068
51057	WDPCP	Pigmentary retinopathy	HP:0000580
51057	WDPCP	Broad hallux	HP:0010055
51057	WDPCP	Ureteral duplication	HP:0000073
51057	WDPCP	Pancreatic cysts	HP:0001737
51057	WDPCP	Depressed nasal ridge	HP:0000457
51057	WDPCP	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
51057	WDPCP	2-3 finger syndactyly	HP:0001233
51057	WDPCP	Asplenia	HP:0001746
51057	WDPCP	Accessory spleen	HP:0001747
51057	WDPCP	Sloping forehead	HP:0000340
51057	WDPCP	Finger syndactyly	HP:0006101
51057	WDPCP	Lobar holoprosencephaly	HP:0006870
51057	WDPCP	Short neck	HP:0000470
51057	WDPCP	Bowing of the long bones	HP:0006487
51057	WDPCP	Micrognathia	HP:0000347
51057	WDPCP	Talipes	HP:0001883
51057	WDPCP	True hermaphroditism	HP:0010459
51057	WDPCP	Furrowed tongue	HP:0000221
51057	WDPCP	Intellectual disability	HP:0001249
51057	WDPCP	Microcornea	HP:0000482
51057	WDPCP	Benign neoplasm of the central nervous system	HP:0100835
51057	WDPCP	Short stature	HP:0004322
51057	WDPCP	Nephrotic syndrome	HP:0000100
51057	WDPCP	Obesity	HP:0001513
51057	WDPCP	Patent ductus arteriosus	HP:0001643
51057	WDPCP	Hearing impairment	HP:0000365
51057	WDPCP	Hydrocephalus	HP:0000238
51057	WDPCP	Downslanted palpebral fissures	HP:0000494
51057	WDPCP	Low-set, posteriorly rotated ears	HP:0000368
51057	WDPCP	Hepatic fibrosis	HP:0001395
51057	WDPCP	Aplasia/Hypoplasia of the iris	HP:0008053
51057	WDPCP	Neurological speech impairment	HP:0002167
51057	WDPCP	Medial flaring of the eyebrow	HP:0010747
51057	WDPCP	Microcephaly	HP:0000252
51057	WDPCP	Pancreatic fibrosis	HP:0100732
51057	WDPCP	Nystagmus	HP:0000639
1906	EDN1	Preauricular skin tag	HP:0000384
1906	EDN1	Macrocephaly	HP:0000256
1906	EDN1	Feeding difficulties	HP:0011968
1906	EDN1	Bifid uvula	HP:0000193
1906	EDN1	Bilateral conductive hearing impairment	HP:0008513
1906	EDN1	Abnormality of the temporomandibular joint	HP:0010754
1906	EDN1	Aplasia/Hypoplasia of the external ear	HP:0008772
1906	EDN1	Facial asymmetry	HP:0000324
1906	EDN1	Question mark ear	HP:0030022
1906	EDN1	Autosomal dominant inheritance	HP:0000006
1906	EDN1	Autosomal recessive inheritance	HP:0000007
1906	EDN1	Generalized hypotonia	HP:0001290
1906	EDN1	Mandibular condyle aplasia	HP:0007627
1906	EDN1	Mandibular condyle hypoplasia	HP:0007628
1906	EDN1	Stenosis of the external auditory canal	HP:0000402
1906	EDN1	Retrognathia	HP:0000278
1906	EDN1	Hamartoma of tongue	HP:0011802
1906	EDN1	Micrognathia	HP:0000347
1906	EDN1	Narrow mouth	HP:0000160
1906	EDN1	Glossoptosis	HP:0000162
1906	EDN1	Full cheeks	HP:0000293
1906	EDN1	Dental crowding	HP:0000678
1906	EDN1	Abnormality of the crus of the helix	HP:0009895
1906	EDN1	Microglossia	HP:0000171
1906	EDN1	Hearing impairment	HP:0000365
1906	EDN1	Cleft helix	HP:0009902
1906	EDN1	Cleft palate	HP:0000175
1906	EDN1	Global developmental delay	HP:0001263
1906	EDN1	Laryngeal cleft	HP:0008751
1906	EDN1	Low-set, posteriorly rotated ears	HP:0000368
1906	EDN1	Dental malocclusion	HP:0000689
1906	EDN1	Respiratory distress	HP:0002098
1906	EDN1	Snoring	HP:0025267
1906	EDN1	Periauricular skin pits	HP:0100277
1906	EDN1	Obstructive sleep apnea	HP:0002870
1906	EDN1	Difficulty in tongue movements	HP:0000183
1906	EDN1	Vein of Galen aneurysmal malformation	HP:0030713
1906	EDN1	External ear malformation	HP:0008572
1906	EDN1	Ptosis	HP:0000508
1908	EDN3	Hypercapnia	HP:0012416
1908	EDN3	Hypoxemia	HP:0012418
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	Apnea	HP:0002104
1908	EDN3	Ganglioneuroma	HP:0003005
1908	EDN3	Olfactory lobe agenesis	HP:0001341
1908	EDN3	Cognitive impairment	HP:0100543
1908	EDN3	Neoplasm of the thyroid gland	HP:0100031
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	Hyperhidrosis	HP:0000975
1908	EDN3	Abnormal macular morphology	HP:0001103
1908	EDN3	Abnormality of the cardiovascular system	HP:0001626
1908	EDN3	Ganglioneuroblastoma	HP:0006747
1908	EDN3	Intestinal obstruction	HP:0005214
1908	EDN3	Diarrhea	HP:0002014
1908	EDN3	Intellectual disability	HP:0001249
1908	EDN3	Nausea and vomiting	HP:0002017
1908	EDN3	Seizures	HP:0001250
1908	EDN3	Short stature	HP:0004322
1908	EDN3	Constipation	HP:0002019
1908	EDN3	Muscular hypotonia	HP:0001252
1908	EDN3	Posteriorly rotated ears	HP:0000358
1908	EDN3	Hypoventilation	HP:0002791
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	Facial asymmetry	HP:0000324
1909	EDNRA	Autosomal dominant inheritance	HP:0000006
1909	EDNRA	Hypoplasia of the maxilla	HP:0000327
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	Stenosis of the external auditory canal	HP:0000402
1909	EDNRA	Trismus	HP:0000211
1909	EDNRA	Conductive hearing impairment	HP:0000405
1909	EDNRA	Sparse and thin eyebrow	HP:0000535
1909	EDNRA	Micrognathia	HP:0000347
1909	EDNRA	Protruding ear	HP:0000411
1909	EDNRA	Glossoptosis	HP:0000162
1909	EDNRA	Dental crowding	HP:0000678
1909	EDNRA	Everted lower lip vermilion	HP:0000232
1909	EDNRA	Delayed eruption of primary teeth	HP:0000680
1909	EDNRA	Cleft palate	HP:0000175
1909	EDNRA	Wide nasal bridge	HP:0000431
1909	EDNRA	Bicuspid aortic valve	HP:0001647
1909	EDNRA	Low-set ears	HP:0000369
1909	EDNRA	Preauricular pit	HP:0004467
1909	EDNRA	Cupped ear	HP:0000378
1909	EDNRA	Alopecia	HP:0001596
51062	ATL1	Osteomyelitis	HP:0002754
51062	ATL1	Autoamputation	HP:0001218
51062	ATL1	Hyperreflexia	HP:0001347
51062	ATL1	Insidious onset	HP:0003587
51062	ATL1	Autosomal dominant inheritance	HP:0000006
51062	ATL1	Distal sensory loss of all modalities	HP:0006984
51062	ATL1	Paresthesia	HP:0003401
51062	ATL1	Degeneration of the lateral corticospinal tracts	HP:0002314
51062	ATL1	Urinary urgency	HP:0000012
51062	ATL1	Lower limb spasticity	HP:0002061
51062	ATL1	Rigidity	HP:0002063
51062	ATL1	Spastic gait	HP:0002064
51062	ATL1	Heterogeneous	HP:0001425
51062	ATL1	Bradykinesia	HP:0002067
51062	ATL1	Toe walking	HP:0040083
51062	ATL1	Nail dystrophy	HP:0008404
51062	ATL1	Urinary incontinence	HP:0000020
51062	ATL1	Peripheral axonal neuropathy	HP:0003477
51062	ATL1	Urinary bladder sphincter dysfunction	HP:0002839
51062	ATL1	Scoliosis	HP:0002650
51062	ATL1	Lower limb hyperreflexia	HP:0002395
51062	ATL1	Progressive	HP:0003676
51062	ATL1	Distal lower limb muscle weakness	HP:0009053
51062	ATL1	Babinski sign	HP:0003487
51062	ATL1	Hypoplasia of the corpus callosum	HP:0002079
51062	ATL1	Pes cavus	HP:0001761
51062	ATL1	Hyperesthesia	HP:0100963
51062	ATL1	Growth delay	HP:0001510
51062	ATL1	Intellectual disability, mild	HP:0001256
51062	ATL1	Spastic paraplegia	HP:0001258
51062	ATL1	Dysarthria	HP:0001260
51062	ATL1	Lower limb muscle weakness	HP:0007340
51062	ATL1	Distal amyotrophy	HP:0003693
51062	ATL1	Lower limb hypertonia	HP:0006895
51062	ATL1	Distal lower limb amyotrophy	HP:0008944
51062	ATL1	Nail dysplasia	HP:0002164
51062	ATL1	Variable expressivity	HP:0003828
51062	ATL1	Incomplete penetrance	HP:0003829
51062	ATL1	Motor delay	HP:0001270
51062	ATL1	Paraplegia	HP:0010550
51062	ATL1	Impaired vibration sensation in the lower limbs	HP:0002166
51062	ATL1	Frequent falls	HP:0002359
51062	ATL1	Ankle clonus	HP:0011448
51062	ATL1	Distal sensory impairment	HP:0002936
51062	ATL1	Adult onset	HP:0003581
51062	ATL1	Impaired vibratory sensation	HP:0002495
1910	EDNRB	Autosomal dominant inheritance	HP:0000006
1910	EDNRB	Autosomal recessive inheritance	HP:0000007
1910	EDNRB	Spastic paraparesis	HP:0002313
1910	EDNRB	Heterogeneous	HP:0001425
1910	EDNRB	Sensorineural hearing impairment	HP:0000407
1910	EDNRB	Abnormality of retinal pigmentation	HP:0007703
1910	EDNRB	Synophrys	HP:0000664
1910	EDNRB	Hypopigmented skin patches	HP:0001053
1910	EDNRB	Adducted thumb	HP:0001181
1910	EDNRB	Weight loss	HP:0001824
1910	EDNRB	White forelock	HP:0002211
1910	EDNRB	Premature graying of hair	HP:0002216
1910	EDNRB	Prominent nasal bridge	HP:0000426
1910	EDNRB	Abnormal auditory evoked potentials	HP:0006958
1910	EDNRB	Underdeveloped nasal alae	HP:0000430
1910	EDNRB	Wide nasal bridge	HP:0000431
1910	EDNRB	White eyebrow	HP:0002226
1910	EDNRB	White eyelashes	HP:0002227
1910	EDNRB	Olfactory lobe agenesis	HP:0001341
1910	EDNRB	Abnormality of the pulmonary artery	HP:0004414
1910	EDNRB	Neoplasm of the thyroid gland	HP:0100031
1910	EDNRB	Sepsis	HP:0100806
1910	EDNRB	Aganglionic megacolon	HP:0002251
1910	EDNRB	Intestinal polyposis	HP:0200008
1910	EDNRB	Heterochromia iridis	HP:0001100
1910	EDNRB	Abnormality of the kidney	HP:0000077
1910	EDNRB	Abnormal macular morphology	HP:0001103
1910	EDNRB	Hypopigmentation of the fundus	HP:0007894
1910	EDNRB	Intestinal obstruction	HP:0005214
1910	EDNRB	Diarrhea	HP:0002014
1910	EDNRB	Intellectual disability	HP:0001249
1910	EDNRB	Nausea and vomiting	HP:0002017
1910	EDNRB	Short stature	HP:0004322
1910	EDNRB	Ataxia	HP:0001251
1910	EDNRB	Constipation	HP:0002019
1910	EDNRB	Muscular hypotonia	HP:0001252
1910	EDNRB	Abdominal pain	HP:0002027
1910	EDNRB	Hearing impairment	HP:0000365
1910	EDNRB	Global developmental delay	HP:0001263
1910	EDNRB	Leukodystrophy	HP:0002415
1910	EDNRB	Large for gestational age	HP:0001520
1910	EDNRB	Polyneuropathy	HP:0001271
1910	EDNRB	Abnormality of vision	HP:0000504
1910	EDNRB	Telecanthus	HP:0000506
1910	EDNRB	Blue irides	HP:0000635
1910	EDNRB	Failure to thrive in infancy	HP:0001531
1910	EDNRB	Ptosis	HP:0000508
1910	EDNRB	Albinism	HP:0001022
1910	EDNRB	Nystagmus	HP:0000639
10102	TSFM	Hepatomegaly	HP:0002240
10102	TSFM	Rhabdomyolysis	HP:0003201
10102	TSFM	Autosomal recessive inheritance	HP:0000007
10102	TSFM	Ventriculomegaly	HP:0002119
10102	TSFM	Optic atrophy	HP:0000648
10102	TSFM	Generalized hypotonia	HP:0001290
10102	TSFM	Encephalopathy	HP:0001298
10102	TSFM	Decreased activity of mitochondrial complex I	HP:0011923
10102	TSFM	Decreased activity of mitochondrial complex III	HP:0011924
10102	TSFM	Decreased fetal movement	HP:0001558
10102	TSFM	Decreased activity of mitochondrial complex IV	HP:0008347
10102	TSFM	Seizures	HP:0001250
10102	TSFM	Ataxia	HP:0001251
10102	TSFM	Elevated serum creatine kinase	HP:0003236
10102	TSFM	Concentric hypertrophic cardiomyopathy	HP:0005157
10102	TSFM	Increased serum lactate	HP:0002151
10102	TSFM	Neonatal hypotonia	HP:0001319
10102	TSFM	Intrauterine growth retardation	HP:0001511
10102	TSFM	Feeding difficulties in infancy	HP:0008872
10102	TSFM	Patent ductus arteriosus	HP:0001643
10102	TSFM	Death in childhood	HP:0003819
10102	TSFM	Muscle weakness	HP:0001324
10102	TSFM	Dilated cardiomyopathy	HP:0001644
10102	TSFM	Respiratory insufficiency	HP:0002093
10102	TSFM	Global developmental delay	HP:0001263
10102	TSFM	Optic neuropathy	HP:0001138
10102	TSFM	Dystonia	HP:0001332
10102	TSFM	Patent foramen ovale	HP:0001655
10102	TSFM	Lactic acidosis	HP:0003128
10102	TSFM	Visual impairment	HP:0000505
10102	TSFM	Tremor	HP:0001337
10102	TSFM	Respiratory failure	HP:0002878
10102	TSFM	Cognitive impairment	HP:0100543
1911	PHC1	Short stature	HP:0004322
1911	PHC1	Hyperreflexia	HP:0001347
1911	PHC1	Hypoplasia of the frontal lobes	HP:0007333
1911	PHC1	Upslanted palpebral fissure	HP:0000582
1911	PHC1	Autosomal recessive inheritance	HP:0000007
1911	PHC1	Ventriculomegaly	HP:0002119
1911	PHC1	Gray matter heterotopia	HP:0002282
1911	PHC1	Vesicoureteral reflux	HP:0000076
1911	PHC1	Global developmental delay	HP:0001263
1911	PHC1	Intellectual disability, severe	HP:0010864
1911	PHC1	Sloping forehead	HP:0000340
1911	PHC1	Pachygyria	HP:0001302
1911	PHC1	Unilateral renal agenesis	HP:0000122
1911	PHC1	Agenesis of corpus callosum	HP:0001274
1911	PHC1	Thin upper lip vermilion	HP:0000219
1911	PHC1	Microcephaly	HP:0000252
1911	PHC1	Abnormal cortical bone morphology	HP:0003103
51067	YARS2	Hepatomegaly	HP:0002240
51067	YARS2	EMG abnormality	HP:0003457
51067	YARS2	Sideroblastic anemia	HP:0001924
51067	YARS2	Autosomal recessive inheritance	HP:0000007
51067	YARS2	Distichiasis	HP:0009743
51067	YARS2	Long philtrum	HP:0000343
51067	YARS2	Mitochondrial myopathy	HP:0003737
51067	YARS2	Scoliosis	HP:0002650
51067	YARS2	High palate	HP:0000218
51067	YARS2	Exercise intolerance	HP:0003546
51067	YARS2	Micrognathia	HP:0000347
51067	YARS2	Progressive	HP:0003676
51067	YARS2	Elevated hepatic transaminase	HP:0002910
51067	YARS2	Generalized limb muscle atrophy	HP:0009055
51067	YARS2	Dysphagia	HP:0002015
51067	YARS2	Intellectual disability	HP:0001249
51067	YARS2	Muscular hypotonia	HP:0001252
51067	YARS2	Failure to thrive	HP:0001508
51067	YARS2	Growth delay	HP:0001510
51067	YARS2	Strabismus	HP:0000486
51067	YARS2	Hypertrophic cardiomyopathy	HP:0001639
51067	YARS2	Increased serum lactate	HP:0002151
51067	YARS2	Anemia	HP:0001903
51067	YARS2	Generalized amyotrophy	HP:0003700
51067	YARS2	Glaucoma	HP:0000501
51067	YARS2	Delayed puberty	HP:0000823
51067	YARS2	Kyphosis	HP:0002808
51067	YARS2	Lactic acidosis	HP:0003128
51067	YARS2	Respiratory insufficiency due to muscle weakness	HP:0002747
51067	YARS2	Progressive muscle weakness	HP:0003323
51067	YARS2	Microcephaly	HP:0000252
51067	YARS2	Short nose	HP:0003196
51067	YARS2	Ptosis	HP:0000508
51067	YARS2	Myopathy	HP:0003198
51067	YARS2	Nystagmus	HP:0000639
10108	MKRN3-AS1	Clinodactyly	HP:0030084
10108	MKRN3-AS1	Acromicria	HP:0031878
10108	MKRN3-AS1	Syndactyly	HP:0001159
10108	MKRN3-AS1	Generalized hypotonia	HP:0001290
10108	MKRN3-AS1	Dolichocephaly	HP:0000268
10108	MKRN3-AS1	Primary amenorrhea	HP:0000786
10108	MKRN3-AS1	Infertility	HP:0000789
10108	MKRN3-AS1	Decreased fetal movement	HP:0001558
10108	MKRN3-AS1	Downturned corners of mouth	HP:0002714
10108	MKRN3-AS1	Cryptorchidism	HP:0000028
10108	MKRN3-AS1	Hypermetropia	HP:0000540
10108	MKRN3-AS1	Recurrent respiratory infections	HP:0002205
10108	MKRN3-AS1	Carious teeth	HP:0000670
10108	MKRN3-AS1	Polyphagia	HP:0002591
10108	MKRN3-AS1	Impaired pain sensation	HP:0007328
10108	MKRN3-AS1	Sporadic	HP:0003745
10108	MKRN3-AS1	Myopia	HP:0000545
10108	MKRN3-AS1	Sleep apnea	HP:0010535
10108	MKRN3-AS1	Neonatal hypotonia	HP:0001319
10108	MKRN3-AS1	Genu valgum	HP:0002857
10108	MKRN3-AS1	Osteopenia	HP:0000938
10108	MKRN3-AS1	Osteoporosis	HP:0000939
10108	MKRN3-AS1	Hypogonadotrophic hypogonadism	HP:0000044
10108	MKRN3-AS1	Scrotal hypoplasia	HP:0000046
10108	MKRN3-AS1	Specific learning disability	HP:0001328
10108	MKRN3-AS1	Iris hypopigmentation	HP:0007730
10108	MKRN3-AS1	Esotropia	HP:0000565
10108	MKRN3-AS1	Micropenis	HP:0000054
10108	MKRN3-AS1	Delayed puberty	HP:0000823
10108	MKRN3-AS1	Short palm	HP:0004279
10108	MKRN3-AS1	Growth hormone deficiency	HP:0000824
10108	MKRN3-AS1	Precocious puberty	HP:0000826
10108	MKRN3-AS1	Narrow palm	HP:0004283
10108	MKRN3-AS1	Frontal upsweep of hair	HP:0002236
10108	MKRN3-AS1	Clitoral hypoplasia	HP:0000060
10108	MKRN3-AS1	Narrow nasal bridge	HP:0000446
10108	MKRN3-AS1	Hypoplastic labia minora	HP:0000064
10108	MKRN3-AS1	Almond-shaped palpebral fissure	HP:0007874
10108	MKRN3-AS1	Psychosis	HP:0000709
10108	MKRN3-AS1	Upslanted palpebral fissure	HP:0000582
10108	MKRN3-AS1	Ventriculomegaly	HP:0002119
10108	MKRN3-AS1	Abdominal obesity	HP:0012743
10108	MKRN3-AS1	Hyperinsulinemia	HP:0000842
10108	MKRN3-AS1	Nasal speech	HP:0001611
10108	MKRN3-AS1	Autism	HP:0000717
10108	MKRN3-AS1	Adrenal insufficiency	HP:0000846
10108	MKRN3-AS1	Temperature instability	HP:0005968
10108	MKRN3-AS1	Narrow forehead	HP:0000341
10108	MKRN3-AS1	Generalized hypopigmentation	HP:0007513
10108	MKRN3-AS1	Type II diabetes mellitus	HP:0005978
10108	MKRN3-AS1	Scoliosis	HP:0002650
10108	MKRN3-AS1	Thin upper lip vermilion	HP:0000219
10108	MKRN3-AS1	Hypopigmentation of hair	HP:0005599
10108	MKRN3-AS1	Cutaneous photosensitivity	HP:0000992
10108	MKRN3-AS1	Seizures	HP:0001250
10108	MKRN3-AS1	Short stature	HP:0004322
10108	MKRN3-AS1	Poor fine motor coordination	HP:0007010
10108	MKRN3-AS1	Poor gross motor coordination	HP:0007015
10108	MKRN3-AS1	Hypoventilation	HP:0002791
10108	MKRN3-AS1	Hip dysplasia	HP:0001385
10108	MKRN3-AS1	Attention deficit hyperactivity disorder	HP:0007018
10108	MKRN3-AS1	Oligomenorrhea	HP:0000876
10108	MKRN3-AS1	Short foot	HP:0001773
10108	MKRN3-AS1	Delayed speech and language development	HP:0000750
10108	MKRN3-AS1	Global developmental delay	HP:0001263
10108	MKRN3-AS1	Poor suck	HP:0002033
10108	MKRN3-AS1	Small hand	HP:0200055
10108	MKRN3-AS1	Motor delay	HP:0001270
10108	MKRN3-AS1	Kyphosis	HP:0002808
10108	MKRN3-AS1	Radial deviation of finger	HP:0009466
10108	MKRN3-AS1	Failure to thrive in infancy	HP:0001531
10108	MKRN3-AS1	Decreased muscle mass	HP:0003199
1917	EEF1A2	Autosomal dominant inheritance	HP:0000006
1917	EEF1A2	Optic atrophy	HP:0000648
1917	EEF1A2	Infantile onset	HP:0003593
1917	EEF1A2	Generalized hypotonia	HP:0001290
1917	EEF1A2	Cerebral atrophy	HP:0002059
1917	EEF1A2	Unsteady gait	HP:0002317
1917	EEF1A2	Rigidity	HP:0002063
1917	EEF1A2	Encephalopathy	HP:0001298
1917	EEF1A2	Decreased fetal movement	HP:0001558
1917	EEF1A2	Downturned corners of mouth	HP:0002714
1917	EEF1A2	Hypodontia	HP:0000668
1917	EEF1A2	Epicanthus	HP:0000286
1917	EEF1A2	Abnormal myelination	HP:0012447
1917	EEF1A2	Depressed nasal bridge	HP:0005280
1917	EEF1A2	Retinal degeneration	HP:0000546
1917	EEF1A2	Neonatal hypotonia	HP:0001319
1917	EEF1A2	Difficulty walking	HP:0002355
1917	EEF1A2	Tented upper lip vermilion	HP:0010804
1917	EEF1A2	Dyskinesia	HP:0100660
1917	EEF1A2	Myoclonus	HP:0001336
1917	EEF1A2	Tremor	HP:0001337
1917	EEF1A2	Feeding difficulties	HP:0011968
1917	EEF1A2	Absent speech	HP:0001344
1917	EEF1A2	Epileptic encephalopathy	HP:0200134
1917	EEF1A2	Developmental regression	HP:0002376
1917	EEF1A2	Limb hypertonia	HP:0002509
1917	EEF1A2	Autism	HP:0000717
1917	EEF1A2	Aggressive behavior	HP:0000718
1917	EEF1A2	Status epilepticus	HP:0002133
1917	EEF1A2	Hypsarrhythmia	HP:0002521
1917	EEF1A2	High forehead	HP:0000348
1917	EEF1A2	EEG with multifocal slow activity	HP:0010844
1917	EEF1A2	Intellectual disability	HP:0001249
1917	EEF1A2	Short stature	HP:0004322
1917	EEF1A2	Seizures	HP:0001250
1917	EEF1A2	Ataxia	HP:0001251
1917	EEF1A2	Gastroesophageal reflux	HP:0002020
1917	EEF1A2	Failure to thrive	HP:0001508
1917	EEF1A2	Impulsivity	HP:0100710
1917	EEF1A2	Everted lower lip vermilion	HP:0000232
1917	EEF1A2	Spasticity	HP:0001257
1917	EEF1A2	Attention deficit hyperactivity disorder	HP:0007018
1917	EEF1A2	Deeply set eye	HP:0000490
1917	EEF1A2	Postnatal microcephaly	HP:0005484
1917	EEF1A2	Downslanted palpebral fissures	HP:0000494
1917	EEF1A2	Delayed speech and language development	HP:0000750
1917	EEF1A2	Global developmental delay	HP:0001263
1917	EEF1A2	Intellectual disability, severe	HP:0010864
1917	EEF1A2	Hyporeflexia	HP:0001265
1917	EEF1A2	Low-set ears	HP:0000369
1917	EEF1A2	Mental deterioration	HP:0001268
1917	EEF1A2	Poor head control	HP:0002421
1917	EEF1A2	Abnormality of vision	HP:0000504
1917	EEF1A2	Abnormal corpus callosum morphology	HP:0001273
1917	EEF1A2	Microcephaly	HP:0000252
1917	EEF1A2	Ptosis	HP:0000508
1917	EEF1A2	Nystagmus	HP:0000639
10111	RAD50	Intellectual disability	HP:0001249
10111	RAD50	Short stature	HP:0004322
10111	RAD50	Ataxia	HP:0001251
10111	RAD50	Ovarian neoplasm	HP:0100615
10111	RAD50	Primary peritoneal carcinoma	HP:0030406
10111	RAD50	Autosomal recessive inheritance	HP:0000007
10111	RAD50	Spasticity	HP:0001257
10111	RAD50	Melanoma	HP:0002861
10111	RAD50	Neoplasm of the pancreas	HP:0002894
10111	RAD50	Abnormality of the fallopian tube	HP:0011027
10111	RAD50	Chromosomal breakage induced by ionizing radiation	HP:0010997
10111	RAD50	Breast carcinoma	HP:0003002
10111	RAD50	Microcephaly	HP:0000252
10111	RAD50	Hypermetropia	HP:0000540
10111	RAD50	Prostate cancer	HP:0012125
157570	ESCO2	Tetraphocomelia	HP:0030721
157570	ESCO2	Cataract	HP:0000518
157570	ESCO2	Autosomal recessive inheritance	HP:0000007
157570	ESCO2	Proptosis	HP:0000520
157570	ESCO2	Malar flattening	HP:0000272
157570	ESCO2	Polyhydramnios	HP:0001561
157570	ESCO2	Midface capillary hemangioma	HP:0007452
157570	ESCO2	Cryptorchidism	HP:0000028
157570	ESCO2	Premature separation of centromeric heterochromatin	HP:0003616
157570	ESCO2	Long penis	HP:0000040
157570	ESCO2	Patellar aplasia	HP:0006443
157570	ESCO2	Bicornuate uterus	HP:0000813
157570	ESCO2	Hypospadias	HP:0000047
157570	ESCO2	Short thumb	HP:0009778
157570	ESCO2	Biliary tract abnormality	HP:0001080
157570	ESCO2	Microphthalmia	HP:0000568
157570	ESCO2	Hypertelorism	HP:0000316
157570	ESCO2	Sandal gap	HP:0001852
157570	ESCO2	Ankle contracture	HP:0006466
157570	ESCO2	Shallow orbits	HP:0000586
157570	ESCO2	Coloboma	HP:0000589
157570	ESCO2	Opacification of the corneal stroma	HP:0007759
157570	ESCO2	Blue sclerae	HP:0000592
157570	ESCO2	Thrombocytopenia	HP:0001873
157570	ESCO2	Craniosynostosis	HP:0001363
157570	ESCO2	Horseshoe kidney	HP:0000085
157570	ESCO2	Wormian bones	HP:0002645
157570	ESCO2	Premature birth	HP:0001622
157570	ESCO2	Bowing of the long bones	HP:0006487
157570	ESCO2	Micrognathia	HP:0000347
157570	ESCO2	Ventricular septal defect	HP:0001629
157570	ESCO2	Atrial septal defect	HP:0001631
157570	ESCO2	Phocomelia	HP:0009829
157570	ESCO2	Posteriorly rotated ears	HP:0000358
157570	ESCO2	Patent ductus arteriosus	HP:0001643
157570	ESCO2	Low-set ears	HP:0000369
157570	ESCO2	Polycystic kidney dysplasia	HP:0000113
157570	ESCO2	Eyelid coloboma	HP:0000625
157570	ESCO2	Clinodactyly of the 5th finger	HP:0004209
157570	ESCO2	Aortic valve stenosis	HP:0001650
157570	ESCO2	External ear malformation	HP:0008572
157570	ESCO2	Nystagmus	HP:0000639
157570	ESCO2	Aplasia/Hypoplasia of the thumb	HP:0009601
157570	ESCO2	Absent earlobe	HP:0000387
157570	ESCO2	Brachydactyly	HP:0001156
157570	ESCO2	Clinodactyly	HP:0030084
157570	ESCO2	Sparse hair	HP:0008070
157570	ESCO2	Absent radius	HP:0003974
157570	ESCO2	Syndactyly	HP:0001159
157570	ESCO2	Abnormality of the metacarpal bones	HP:0001163
157570	ESCO2	Severe intrauterine growth retardation	HP:0008846
157570	ESCO2	Aplasia of the ulna	HP:0003982
157570	ESCO2	Mesomelic arm shortening	HP:0005011
157570	ESCO2	Proximal placement of thumb	HP:0009623
157570	ESCO2	Hand oligodactyly	HP:0001180
157570	ESCO2	Radioulnar synostosis	HP:0002974
157570	ESCO2	Frontal encephalocele	HP:0007330
157570	ESCO2	Underdeveloped supraorbital ridges	HP:0009891
157570	ESCO2	Cranial nerve paralysis	HP:0006824
157570	ESCO2	Hypoplasia of the radius	HP:0002984
157570	ESCO2	Elbow flexion contracture	HP:0002987
157570	ESCO2	Underdeveloped nasal alae	HP:0000430
157570	ESCO2	Bilateral single transverse palmar creases	HP:0007598
157570	ESCO2	Wide nasal bridge	HP:0000431
157570	ESCO2	Cleft palate	HP:0000175
157570	ESCO2	Synostosis of carpal bones	HP:0005048
157570	ESCO2	Cafe-au-lait spot	HP:0000957
157570	ESCO2	Postnatal growth retardation	HP:0008897
157570	ESCO2	Hip contracture	HP:0003273
157570	ESCO2	Cleft upper lip	HP:0000204
157570	ESCO2	Narrow naris	HP:0009933
157570	ESCO2	Accessory spleen	HP:0001747
157570	ESCO2	Finger syndactyly	HP:0006101
157570	ESCO2	Short neck	HP:0000470
157570	ESCO2	Wrist flexion contracture	HP:0001239
157570	ESCO2	Complete duplication of thumb phalanx	HP:0009943
157570	ESCO2	Abnormality of cardiovascular system morphology	HP:0030680
157570	ESCO2	Clitoral hypertrophy	HP:0008665
157570	ESCO2	High palate	HP:0000218
157570	ESCO2	Cystic hygroma	HP:0000476
157570	ESCO2	Intellectual disability	HP:0001249
157570	ESCO2	Seizures	HP:0001250
157570	ESCO2	Short stature	HP:0004322
157570	ESCO2	Intrauterine growth retardation	HP:0001511
157570	ESCO2	Enlarged labia minora	HP:0008683
157570	ESCO2	Talipes equinovalgus	HP:0001772
157570	ESCO2	Knee flexion contracture	HP:0006380
157570	ESCO2	Downslanted palpebral fissures	HP:0000494
157570	ESCO2	Hydrocephalus	HP:0000238
157570	ESCO2	Fair hair	HP:0002286
157570	ESCO2	Global developmental delay	HP:0001263
157570	ESCO2	Stillbirth	HP:0003826
157570	ESCO2	Progressive flexion contractures	HP:0005876
157570	ESCO2	Glaucoma	HP:0000501
157570	ESCO2	Brachycephaly	HP:0000248
157570	ESCO2	Radial deviation of finger	HP:0009466
157570	ESCO2	Microcephaly	HP:0000252
10117	ENAM	Heterogeneous	HP:0001425
10117	ENAM	Amelogenesis imperfecta	HP:0000705
10117	ENAM	Autosomal dominant inheritance	HP:0000006
10117	ENAM	Autosomal recessive inheritance	HP:0000007
10117	ENAM	Hypomineralization of enamel	HP:0006285
10117	ENAM	Yellow-brown discoloration of the teeth	HP:0006286
10117	ENAM	Anterior open-bite malocclusion	HP:0009102
26503	SLC17A5	Hepatomegaly	HP:0002240
26503	SLC17A5	Exotropia	HP:0000577
26503	SLC17A5	Athetosis	HP:0002305
26503	SLC17A5	Vacuolated lymphocytes	HP:0001922
26503	SLC17A5	Ascites	HP:0001541
26503	SLC17A5	Autosomal recessive inheritance	HP:0000007
26503	SLC17A5	Generalized hypotonia	HP:0001290
26503	SLC17A5	Cerebral atrophy	HP:0002059
26503	SLC17A5	Anteverted nares	HP:0000463
26503	SLC17A5	Splenomegaly	HP:0001744
26503	SLC17A5	Metaphyseal irregularity	HP:0003025
26503	SLC17A5	Abnormality of metabolism/homeostasis	HP:0001939
26503	SLC17A5	Gingival overgrowth	HP:0000212
26503	SLC17A5	Premature birth	HP:0001622
26503	SLC17A5	Coarse facial features	HP:0000280
26503	SLC17A5	High palate	HP:0000218
26503	SLC17A5	Conjugated hyperbilirubinemia	HP:0002908
26503	SLC17A5	Epicanthus	HP:0000286
26503	SLC17A5	Abnormality of the foot	HP:0001760
26503	SLC17A5	Intellectual disability	HP:0001249
26503	SLC17A5	Seizures	HP:0001250
26503	SLC17A5	Ataxia	HP:0001251
26503	SLC17A5	Congestive heart failure	HP:0001635
26503	SLC17A5	Muscular hypotonia	HP:0001252
26503	SLC17A5	Nephrotic syndrome	HP:0000100
26503	SLC17A5	Failure to thrive	HP:0001508
26503	SLC17A5	Growth delay	HP:0001510
26503	SLC17A5	Cardiomegaly	HP:0001640
26503	SLC17A5	Spasticity	HP:0001257
26503	SLC17A5	Osteopenia	HP:0000938
26503	SLC17A5	Death in childhood	HP:0003819
26503	SLC17A5	Dysarthria	HP:0001260
26503	SLC17A5	Inability to walk	HP:0002540
26503	SLC17A5	Delayed speech and language development	HP:0000750
26503	SLC17A5	Fair hair	HP:0002286
26503	SLC17A5	Hydrocephalus	HP:0000238
26503	SLC17A5	Global developmental delay	HP:0001263
26503	SLC17A5	Hypopigmentation of the skin	HP:0001010
26503	SLC17A5	J-shaped sella turcica	HP:0002680
26503	SLC17A5	Thickened calvaria	HP:0002684
26503	SLC17A5	Ptosis	HP:0000508
26503	SLC17A5	Abnormality of the thorax	HP:0000765
26503	SLC17A5	Hydrops fetalis	HP:0001789
26503	SLC17A5	Nystagmus	HP:0000639
51079	NDUFA13	Hyperreflexia	HP:0001347
51079	NDUFA13	Pigmentary retinopathy	HP:0000580
51079	NDUFA13	Optic atrophy	HP:0000648
51079	NDUFA13	Emotional lability	HP:0000712
51079	NDUFA13	Infantile onset	HP:0003593
51079	NDUFA13	Decreased activity of mitochondrial respiratory chain	HP:0008972
51079	NDUFA13	Lower limb spasticity	HP:0002061
51079	NDUFA13	Focal T2 hyperintense basal ganglia lesion	HP:0007183
51079	NDUFA13	Hyperalaninemia	HP:0003348
51079	NDUFA13	Abnormal pyramidal sign	HP:0007256
51079	NDUFA13	Progressive cerebellar ataxia	HP:0002073
51079	NDUFA13	Ophthalmoplegia	HP:0000602
51079	NDUFA13	Slow progression	HP:0003677
51079	NDUFA13	Ventricular septal defect	HP:0001629
51079	NDUFA13	Poor speech	HP:0002465
51079	NDUFA13	Seizures	HP:0001250
51079	NDUFA13	Failure to thrive	HP:0001508
51079	NDUFA13	Muscular hypotonia	HP:0001252
51079	NDUFA13	Strabismus	HP:0000486
51079	NDUFA13	Hypertrichosis	HP:0000998
51079	NDUFA13	Peripheral neuropathy	HP:0009830
51079	NDUFA13	Increased serum lactate	HP:0002151
51079	NDUFA13	Hypertrophic cardiomyopathy	HP:0001639
51079	NDUFA13	Progressive spastic paraplegia	HP:0007020
51079	NDUFA13	Dysarthria	HP:0001260
51079	NDUFA13	Hearing impairment	HP:0000365
51079	NDUFA13	Global developmental delay	HP:0001263
51079	NDUFA13	Anemia	HP:0001903
51079	NDUFA13	Leukodystrophy	HP:0002415
51079	NDUFA13	Abnormality of eye movement	HP:0000496
51079	NDUFA13	Intellectual disability, severe	HP:0010864
51079	NDUFA13	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
51079	NDUFA13	Poor eye contact	HP:0000817
51079	NDUFA13	Optic neuropathy	HP:0001138
51079	NDUFA13	Choreoathetosis	HP:0001266
51079	NDUFA13	Dystonia	HP:0001332
51079	NDUFA13	Dyskinesia	HP:0100660
51079	NDUFA13	Poor head control	HP:0002421
51079	NDUFA13	Apnea	HP:0002104
51079	NDUFA13	Increased CSF lactate	HP:0002490
51079	NDUFA13	Ptosis	HP:0000508
51079	NDUFA13	Nystagmus	HP:0000639
26504	CNNM4	Amelogenesis imperfecta	HP:0000705
26504	CNNM4	Abnormality of dental color	HP:0011073
26504	CNNM4	Cone/cone-rod dystrophy	HP:0000548
26504	CNNM4	Photophobia	HP:0000613
26504	CNNM4	Autosomal recessive inheritance	HP:0000007
26504	CNNM4	Color vision defect	HP:0000551
26504	CNNM4	Optic atrophy	HP:0000648
26504	CNNM4	Nyctalopia	HP:0000662
26504	CNNM4	Abnormality of retinal pigmentation	HP:0007703
26504	CNNM4	Visual impairment	HP:0000505
26504	CNNM4	Monochromacy	HP:0007803
26504	CNNM4	Carious teeth	HP:0000670
26504	CNNM4	Nystagmus	HP:0000639
26504	CNNM4	Optic disc pallor	HP:0000543
51081	MRPS7	Hepatomegaly	HP:0002240
51081	MRPS7	Variable expressivity	HP:0003828
51081	MRPS7	Hepatic steatosis	HP:0001397
51081	MRPS7	Hypogonadism	HP:0000135
51081	MRPS7	Hepatic failure	HP:0001399
51081	MRPS7	Hypoglycemia	HP:0001943
51081	MRPS7	Lactic acidosis	HP:0003128
51081	MRPS7	Infantile onset	HP:0003593
51081	MRPS7	Primary adrenal insufficiency	HP:0008207
51082	POLR1D	Preauricular skin tag	HP:0000384
51082	POLR1D	Blepharospasm	HP:0000643
51082	POLR1D	Cataract	HP:0000518
51082	POLR1D	Autosomal dominant inheritance	HP:0000006
51082	POLR1D	Autosomal recessive inheritance	HP:0000007
51082	POLR1D	Hypoplasia of the thymus	HP:0000778
51082	POLR1D	Tracheoesophageal fistula	HP:0002575
51082	POLR1D	Rectovaginal fistula	HP:0000143
51082	POLR1D	Malar flattening	HP:0000272
51082	POLR1D	Conductive hearing impairment	HP:0000405
51082	POLR1D	Retrognathia	HP:0000278
51082	POLR1D	Midface retrusion	HP:0011800
51082	POLR1D	Wide mouth	HP:0000154
51082	POLR1D	Cryptorchidism	HP:0000028
51082	POLR1D	Abnormality of the vertebral column	HP:0000925
51082	POLR1D	Narrow mouth	HP:0000160
51082	POLR1D	Hypoplasia of penis	HP:0008736
51082	POLR1D	Glossoptosis	HP:0000162
51082	POLR1D	Encephalocele	HP:0002084
51082	POLR1D	Low anterior hairline	HP:0000294
51082	POLR1D	Abnormality of dental enamel	HP:0000682
51082	POLR1D	Hypoplasia of the zygomatic bone	HP:0010669
51082	POLR1D	Respiratory insufficiency	HP:0002093
51082	POLR1D	Scrotal hypoplasia	HP:0000046
51082	POLR1D	Wide nasal bridge	HP:0000431
51082	POLR1D	Cleft palate	HP:0000175
51082	POLR1D	Absent eyelashes	HP:0000561
51082	POLR1D	Dysphasia	HP:0002357
51082	POLR1D	Open bite	HP:0010807
51082	POLR1D	Microphthalmia	HP:0000568
51082	POLR1D	Hypertelorism	HP:0000316
51082	POLR1D	Abnormality of the adrenal glands	HP:0000834
51082	POLR1D	Branchial fistula	HP:0009795
51082	POLR1D	Choanal stenosis	HP:0000452
51082	POLR1D	Choanal atresia	HP:0000453
51082	POLR1D	Multiple enchondromatosis	HP:0005701
51082	POLR1D	Hypoplasia of the maxilla	HP:0000327
51082	POLR1D	Reduced number of teeth	HP:0009804
51082	POLR1D	Cleft upper lip	HP:0000204
51082	POLR1D	Coloboma	HP:0000589
51082	POLR1D	Abnormality of dental morphology	HP:0006482
51082	POLR1D	Short face	HP:0011219
51082	POLR1D	Facial cleft	HP:0002006
51082	POLR1D	Frontal bossing	HP:0002007
51082	POLR1D	High palate	HP:0000218
51082	POLR1D	Micrognathia	HP:0000347
51082	POLR1D	Skeletal dysplasia	HP:0002652
51082	POLR1D	Failure to thrive	HP:0001508
51082	POLR1D	Iris coloboma	HP:0000612
51082	POLR1D	Thyroid hypoplasia	HP:0005990
51082	POLR1D	Strabismus	HP:0000486
51082	POLR1D	Microtia	HP:0008551
51082	POLR1D	Patent ductus arteriosus	HP:0001643
51082	POLR1D	Downslanted palpebral fissures	HP:0000494
51082	POLR1D	Global developmental delay	HP:0001263
51082	POLR1D	Eyelid coloboma	HP:0000625
51082	POLR1D	Brachycephaly	HP:0000248
51082	POLR1D	Visual impairment	HP:0000505
51082	POLR1D	Narrow internal auditory canal	HP:0011386
51082	POLR1D	Abnormality of bone mineral density	HP:0004348
51083	GAL	Focal impaired awareness seizure	HP:0002384
51083	GAL	Autosomal dominant inheritance	HP:0000006
51085	MLXIPL	Small nail	HP:0001792
51085	MLXIPL	Hypercalcemia	HP:0003072
51085	MLXIPL	Umbilical hernia	HP:0001537
51085	MLXIPL	Autosomal dominant inheritance	HP:0000006
51085	MLXIPL	Incoordination	HP:0002311
51085	MLXIPL	Generalized hypotonia	HP:0001290
51085	MLXIPL	Recurrent urinary tract infections	HP:0000010
51085	MLXIPL	Bladder diverticulum	HP:0000015
51085	MLXIPL	Malar flattening	HP:0000272
51085	MLXIPL	Stroke	HP:0001297
51085	MLXIPL	Large earlobe	HP:0009748
51085	MLXIPL	Inguinal hernia	HP:0000023
51085	MLXIPL	Midface retrusion	HP:0011800
51085	MLXIPL	Coronary artery stenosis	HP:0005145
51085	MLXIPL	Abnormality of refraction	HP:0000539
51085	MLXIPL	Hyperacusis	HP:0010780
51085	MLXIPL	Supravalvular aortic stenosis	HP:0004381
51085	MLXIPL	Epicanthus	HP:0000286
51085	MLXIPL	Hallux valgus	HP:0001822
51085	MLXIPL	Full cheeks	HP:0000293
51085	MLXIPL	Enuresis	HP:0000805
51085	MLXIPL	Cerebellar hypoplasia	HP:0001321
51085	MLXIPL	Impaired visuospatial constructive cognition	HP:0010794
51085	MLXIPL	Celiac disease	HP:0002608
51085	MLXIPL	Diabetes mellitus	HP:0000819
51085	MLXIPL	Hypothyroidism	HP:0000821
51085	MLXIPL	Micropenis	HP:0000054
51085	MLXIPL	Hypertension	HP:0000822
51085	MLXIPL	Sleep disturbance	HP:0002360
51085	MLXIPL	Poor coordination	HP:0002370
51085	MLXIPL	Obsessive-compulsive trait	HP:0008770
51085	MLXIPL	Hyperreflexia	HP:0001347
51085	MLXIPL	Vocal cord paralysis	HP:0001605
51085	MLXIPL	Blepharophimosis	HP:0000581
51085	MLXIPL	Hoarse voice	HP:0001609
51085	MLXIPL	Vesicoureteral reflux	HP:0000076
51085	MLXIPL	Renal insufficiency	HP:0000083
51085	MLXIPL	Narrow forehead	HP:0000341
51085	MLXIPL	Down-sloping shoulders	HP:0200021
51085	MLXIPL	Long philtrum	HP:0000343
51085	MLXIPL	Hypotelorism	HP:0000601
51085	MLXIPL	Renal hypoplasia	HP:0000089
51085	MLXIPL	Flexion contracture	HP:0001371
51085	MLXIPL	Gait imbalance	HP:0002141
51085	MLXIPL	Ventricular septal defect	HP:0001629
51085	MLXIPL	Atrial septal defect	HP:0001631
51085	MLXIPL	Hypercalciuria	HP:0002150
51085	MLXIPL	Peripheral pulmonary artery stenosis	HP:0004969
51085	MLXIPL	Pulmonic stenosis	HP:0001642
51085	MLXIPL	Attention deficit hyperactivity disorder	HP:0007018
51085	MLXIPL	Joint laxity	HP:0001388
51085	MLXIPL	Bicuspid aortic valve	HP:0001647
51085	MLXIPL	Retinal arteriolar tortuosity	HP:0001136
51085	MLXIPL	Clinodactyly of the 5th finger	HP:0004209
51085	MLXIPL	Periorbital fullness	HP:0000629
51085	MLXIPL	Mitral regurgitation	HP:0001653
51085	MLXIPL	Nephrocalcinosis	HP:0000121
51085	MLXIPL	Blue irides	HP:0000635
51085	MLXIPL	Short nose	HP:0003196
51085	MLXIPL	Pelvic kidney	HP:0000125
51085	MLXIPL	Renal artery stenosis	HP:0001920
51085	MLXIPL	Portal hypertension	HP:0001409
51085	MLXIPL	Amblyopia	HP:0000646
51085	MLXIPL	Phonophobia	HP:0002183
51085	MLXIPL	Recurrent otitis media	HP:0000403
51085	MLXIPL	Sensorineural hearing impairment	HP:0000407
51085	MLXIPL	Hypodontia	HP:0000668
51085	MLXIPL	Myxomatous mitral valve degeneration	HP:0004764
51085	MLXIPL	Radioulnar synostosis	HP:0002974
51085	MLXIPL	Depressed nasal bridge	HP:0005280
51085	MLXIPL	Glucose intolerance	HP:0001952
51085	MLXIPL	Early onset of sexual maturation	HP:0100000
51085	MLXIPL	Chronic constipation	HP:0012450
51085	MLXIPL	Sudden death	HP:0001699
51085	MLXIPL	Premature graying of hair	HP:0002216
51085	MLXIPL	Feeding difficulties in infancy	HP:0008872
51085	MLXIPL	Osteopenia	HP:0000938
51085	MLXIPL	Osteoporosis	HP:0000939
51085	MLXIPL	Dental malocclusion	HP:0000689
51085	MLXIPL	Thick lower lip vermilion	HP:0000179
51085	MLXIPL	Microdontia	HP:0000691
51085	MLXIPL	Arnold-Chiari type I malformation	HP:0007099
51085	MLXIPL	Kyphoscoliosis	HP:0002751
51085	MLXIPL	Open mouth	HP:0000194
51085	MLXIPL	Broad nasal tip	HP:0000455
51085	MLXIPL	Colonic diverticula	HP:0002253
51085	MLXIPL	Cutis laxa	HP:0000973
51085	MLXIPL	Soft skin	HP:0000977
51085	MLXIPL	Urethral stenosis	HP:0008661
51085	MLXIPL	Intellectual disability	HP:0001249
51085	MLXIPL	Short stature	HP:0004322
51085	MLXIPL	Anxiety	HP:0000739
51085	MLXIPL	Constipation	HP:0002019
51085	MLXIPL	Gastroesophageal reflux	HP:0002020
51085	MLXIPL	Muscular hypotonia	HP:0001252
51085	MLXIPL	Strabismus	HP:0000486
51085	MLXIPL	Intrauterine growth retardation	HP:0001511
51085	MLXIPL	Obesity	HP:0001513
51085	MLXIPL	Rectal prolapse	HP:0002035
51085	MLXIPL	Food intolerance	HP:0012537
51085	MLXIPL	Failure to thrive in infancy	HP:0001531
51085	MLXIPL	Medial flaring of the eyebrow	HP:0010747
51085	MLXIPL	Pectus excavatum	HP:0000767
10126	DNAL4	Poor fine motor coordination	HP:0007010
10126	DNAL4	Fused cervical vertebrae	HP:0002949
10126	DNAL4	Autosomal recessive inheritance	HP:0000007
10126	DNAL4	Clumsiness	HP:0002312
10126	DNAL4	Intellectual disability, mild	HP:0001256
10126	DNAL4	Hypogonadotrophic hypogonadism	HP:0000044
10126	DNAL4	Dysgenesis of the hippocampus	HP:0025101
10126	DNAL4	Specific learning disability	HP:0001328
10126	DNAL4	Cerebral palsy	HP:0100021
10126	DNAL4	Bimanual synkinesia	HP:0001335
10126	DNAL4	Agenesis of corpus callosum	HP:0001274
10126	DNAL4	Easy fatigability	HP:0003388
10126	DNAL4	Abnormality of the corticospinal tract	HP:0002492
10126	DNAL4	Myalgia	HP:0003326
51086	TNNI3K	Tachycardia	HP:0001649
51086	TNNI3K	Congestive heart failure	HP:0001635
51086	TNNI3K	Atrial fibrillation	HP:0005110
51086	TNNI3K	Autosomal dominant inheritance	HP:0000006
51086	TNNI3K	Dilated cardiomyopathy	HP:0001644
51086	TNNI3K	Atrial arrhythmia	HP:0001692
51086	TNNI3K	Atrial flutter	HP:0004749
51086	TNNI3K	Left anterior fascicular block	HP:0011711
223117	SEMA3D	Weight loss	HP:0001824
223117	SEMA3D	Intellectual disability	HP:0001249
223117	SEMA3D	Nausea and vomiting	HP:0002017
223117	SEMA3D	Short stature	HP:0004322
223117	SEMA3D	Constipation	HP:0002019
223117	SEMA3D	Sepsis	HP:0100806
223117	SEMA3D	Abdominal pain	HP:0002027
223117	SEMA3D	Aganglionic megacolon	HP:0002251
223117	SEMA3D	Intestinal polyposis	HP:0200008
223117	SEMA3D	Sensorineural hearing impairment	HP:0000407
223117	SEMA3D	Failure to thrive in infancy	HP:0001531
223117	SEMA3D	Adducted thumb	HP:0001181
223117	SEMA3D	Diarrhea	HP:0002014
223117	SEMA3D	Intestinal obstruction	HP:0005214
223117	SEMA3D	Neoplasm of the thyroid gland	HP:0100031
83854	ANGPTL6	Seizures	HP:0001250
83854	ANGPTL6	Visual field defect	HP:0001123
83854	ANGPTL6	Encephalomalacia	HP:0040197
83854	ANGPTL6	Abnormal circle of Willis morphology	HP:0012518
83854	ANGPTL6	Cerebral berry aneurysm	HP:0007029
83854	ANGPTL6	Hemiparesis	HP:0001269
83854	ANGPTL6	Hypertension	HP:0000822
83854	ANGPTL6	Transient ischemic attack	HP:0002326
83854	ANGPTL6	Oculomotor nerve palsy	HP:0012246
83854	ANGPTL6	Aortic dissection	HP:0002647
83854	ANGPTL6	Aortic root aneurysm	HP:0002616
83854	ANGPTL6	Subarachnoid hemorrhage	HP:0002138
83854	ANGPTL6	Abnormality of brainstem morphology	HP:0002363
83854	ANGPTL6	Atherosclerosis	HP:0002621
10128	LRPPRC	Hyperglycemia	HP:0003074
10128	LRPPRC	Microvesicular hepatic steatosis	HP:0001414
10128	LRPPRC	Autosomal recessive inheritance	HP:0000007
10128	LRPPRC	Infantile onset	HP:0003593
10128	LRPPRC	CNS demyelination	HP:0007305
10128	LRPPRC	Generalized hypotonia	HP:0001290
10128	LRPPRC	Psychomotor retardation	HP:0025356
10128	LRPPRC	Anteverted nares	HP:0000463
10128	LRPPRC	Malar flattening	HP:0000272
10128	LRPPRC	Prominent forehead	HP:0011220
10128	LRPPRC	Hypoglycemia	HP:0001943
10128	LRPPRC	Peripheral demyelination	HP:0011096
10128	LRPPRC	Midface retrusion	HP:0011800
10128	LRPPRC	Seizures	HP:0001250
10128	LRPPRC	Ataxia	HP:0001251
10128	LRPPRC	Failure to thrive	HP:0001508
10128	LRPPRC	Muscular hypotonia	HP:0001252
10128	LRPPRC	Tachypnea	HP:0002789
10128	LRPPRC	Increased hepatocellular lipid droplets	HP:0006565
10128	LRPPRC	Strabismus	HP:0000486
10128	LRPPRC	Low anterior hairline	HP:0000294
10128	LRPPRC	Increased serum lactate	HP:0002151
10128	LRPPRC	Delayed speech and language development	HP:0000750
10128	LRPPRC	Wide nasal bridge	HP:0000431
10128	LRPPRC	Global developmental delay	HP:0001263
10128	LRPPRC	Hirsutism	HP:0001007
10128	LRPPRC	Lactic acidosis	HP:0003128
10128	LRPPRC	Highly arched eyebrow	HP:0002553
10128	LRPPRC	Tremor	HP:0001337
10128	LRPPRC	Increased CSF lactate	HP:0002490
10128	LRPPRC	Gliosis	HP:0002171
10128	LRPPRC	Hypertelorism	HP:0000316
346007	EYS	Abnormal electroretinogram	HP:0000512
346007	EYS	Hyperreflexia	HP:0001347
346007	EYS	Cataract	HP:0000518
346007	EYS	Hypogonadism	HP:0000135
346007	EYS	Autosomal recessive inheritance	HP:0000007
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	Chorioretinal atrophy	HP:0000533
346007	EYS	Nyctalopia	HP:0000662
346007	EYS	Sensorineural hearing impairment	HP:0000407
346007	EYS	Abnormality of retinal pigmentation	HP:0007703
346007	EYS	Ophthalmoplegia	HP:0000602
346007	EYS	Type II diabetes mellitus	HP:0005978
346007	EYS	Atypical scarring of skin	HP:0000987
346007	EYS	Optic disc pallor	HP:0000543
346007	EYS	Hypoplasia of penis	HP:0008736
346007	EYS	Intellectual disability	HP:0001249
346007	EYS	Abnormal testis morphology	HP:0000035
346007	EYS	Attenuation of retinal blood vessels	HP:0007843
346007	EYS	Photophobia	HP:0000613
346007	EYS	Undetectable electroretinogram	HP:0000550
346007	EYS	Obesity	HP:0001513
346007	EYS	Blindness	HP:0000618
346007	EYS	Posterior subcapsular cataract	HP:0007787
346007	EYS	Constriction of peripheral visual field	HP:0001133
346007	EYS	Abnormal retinal vascular morphology	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
1938	EEF2	Dysmetric saccades	HP:0000641
1938	EEF2	Autosomal dominant inheritance	HP:0000006
1938	EEF2	Incoordination	HP:0002311
1938	EEF2	Progressive gait ataxia	HP:0007240
1938	EEF2	Dysarthria	HP:0001260
1938	EEF2	Gait ataxia	HP:0002066
1938	EEF2	Limb ataxia	HP:0002070
1938	EEF2	Cerebellar atrophy	HP:0001272
1938	EEF2	Progressive cerebellar ataxia	HP:0002073
1938	EEF2	Generalized hyperreflexia	HP:0007034
1938	EEF2	Adult onset	HP:0003581
1938	EEF2	Slow progression	HP:0003677
1938	EEF2	Truncal ataxia	HP:0002078
1938	EEF2	Impaired horizontal smooth pursuit	HP:0001151
1938	EEF2	Nystagmus	HP:0000639
1938	EEF2	Babinski sign	HP:0003487
51091	SEPSECS	Delayed myelination	HP:0012448
51091	SEPSECS	Irritability	HP:0000737
51091	SEPSECS	Seizures	HP:0001250
51091	SEPSECS	Autosomal recessive inheritance	HP:0000007
51091	SEPSECS	Infantile onset	HP:0003593
51091	SEPSECS	Intellectual disability, profound	HP:0002187
51091	SEPSECS	Cerebral atrophy	HP:0002059
51091	SEPSECS	Spastic tetraplegia	HP:0002510
51091	SEPSECS	Global developmental delay	HP:0001263
51091	SEPSECS	Limb joint contracture	HP:0003121
51091	SEPSECS	Abnormality of the periventricular white matter	HP:0002518
51091	SEPSECS	Cerebellar atrophy	HP:0001272
51091	SEPSECS	Sleep disturbance	HP:0002360
51091	SEPSECS	Chorea	HP:0002072
51091	SEPSECS	Clonus	HP:0002169
51091	SEPSECS	Progressive microcephaly	HP:0000253
51091	SEPSECS	Hypoplasia of the corpus callosum	HP:0002079
83861	RSPH3	Neonatal respiratory distress	HP:0002643
83861	RSPH3	Immotile cilia	HP:0012263
83861	RSPH3	Autosomal recessive inheritance	HP:0000007
83861	RSPH3	Ciliary dyskinesia	HP:0012265
83861	RSPH3	Congenital onset	HP:0003577
83861	RSPH3	Recurrent respiratory infections	HP:0002205
83861	RSPH3	Bronchiectasis	HP:0002110
10133	OPTN	Skeletal muscle atrophy	HP:0003202
10133	OPTN	Muscle spasm	HP:0003394
10133	OPTN	Neurodegeneration	HP:0002180
10133	OPTN	Autosomal dominant inheritance	HP:0000006
10133	OPTN	Autosomal recessive inheritance	HP:0000007
10133	OPTN	Emotional lability	HP:0000712
10133	OPTN	Agitation	HP:0000713
10133	OPTN	Depressivity	HP:0000716
10133	OPTN	Open angle glaucoma	HP:0012108
10133	OPTN	Paralysis	HP:0003470
10133	OPTN	Laryngospasm	HP:0025425
10133	OPTN	Xerostomia	HP:0000217
10133	OPTN	Fatigue	HP:0012378
10133	OPTN	Tongue fasciculations	HP:0001308
10133	OPTN	Dysphagia	HP:0002015
10133	OPTN	Nausea and vomiting	HP:0002017
10133	OPTN	Myopia	HP:0000545
10133	OPTN	Anxiety	HP:0000739
10133	OPTN	Spasticity	HP:0001257
10133	OPTN	Dysarthria	HP:0001260
10133	OPTN	Muscle weakness	HP:0001324
10133	OPTN	Dyspnea	HP:0002094
10133	OPTN	Fatigable weakness of swallowing muscles	HP:0030195
10133	OPTN	Pain	HP:0012531
10133	OPTN	Fatigable weakness of respiratory muscles	HP:0030196
10133	OPTN	Amyotrophic lateral sclerosis	HP:0007354
10133	OPTN	Generalized muscle weakness	HP:0003324
10133	OPTN	Respiratory failure	HP:0002878
10134	BCAP31	Seizures	HP:0001250
10134	BCAP31	Recurrent fever	HP:0001954
10134	BCAP31	Failure to thrive	HP:0001508
10134	BCAP31	Strabismus	HP:0000486
10134	BCAP31	Intrauterine growth retardation	HP:0001511
10134	BCAP31	Optic atrophy	HP:0000648
10134	BCAP31	Cerebral cortical atrophy	HP:0002120
10134	BCAP31	X-linked recessive inheritance	HP:0001419
10134	BCAP31	Cerebral atrophy	HP:0002059
10134	BCAP31	Corpus callosum atrophy	HP:0007371
10134	BCAP31	Tetraplegia	HP:0002445
10134	BCAP31	Hearing impairment	HP:0000365
10134	BCAP31	Aggressive behavior	HP:0000718
10134	BCAP31	Abnormal facial shape	HP:0001999
10134	BCAP31	Global developmental delay	HP:0001263
10134	BCAP31	Intellectual disability, severe	HP:0010864
10134	BCAP31	Hyperactivity	HP:0000752
10134	BCAP31	Dystonia	HP:0001332
10134	BCAP31	Sensorineural hearing impairment	HP:0000407
10134	BCAP31	Abnormal pyramidal sign	HP:0007256
10134	BCAP31	Cerebral hypomyelination	HP:0006808
10134	BCAP31	Cerebellar atrophy	HP:0001272
10134	BCAP31	Microcephaly	HP:0000252
51095	TRNT1	Ring scotoma	HP:0030529
51095	TRNT1	Sideroblastic anemia	HP:0001924
51095	TRNT1	Autosomal recessive inheritance	HP:0000007
51095	TRNT1	Anisocytosis	HP:0011273
51095	TRNT1	Generalized hypotonia	HP:0001290
51095	TRNT1	Cerebral atrophy	HP:0002059
51095	TRNT1	Photoreceptor layer loss on macular OCT	HP:0030609
51095	TRNT1	Pallor	HP:0000980
51095	TRNT1	Nyctalopia	HP:0000662
51095	TRNT1	Sensorineural hearing impairment	HP:0000407
51095	TRNT1	Decreased antibody level in blood	HP:0004313
51095	TRNT1	Aminoaciduria	HP:0003355
51095	TRNT1	Elliptocytosis	HP:0004445
51095	TRNT1	Optic disc pallor	HP:0000543
51095	TRNT1	Lymphopenia	HP:0001888
51095	TRNT1	Myopia	HP:0000545
51095	TRNT1	Seizures	HP:0001250
51095	TRNT1	Ataxia	HP:0001251
51095	TRNT1	Abnormal cerebellum morphology	HP:0001317
51095	TRNT1	Growth delay	HP:0001510
51095	TRNT1	Cardiomyopathy	HP:0001638
51095	TRNT1	Hypochromic microcytic anemia	HP:0004840
51095	TRNT1	Retinal pigment epithelial atrophy	HP:0007722
51095	TRNT1	Decreased mean corpuscular volume	HP:0025066
51095	TRNT1	Global developmental delay	HP:0001263
51095	TRNT1	Anemia	HP:0001903
51095	TRNT1	Decreased serum iron	HP:0040303
51095	TRNT1	Epiretinal membrane	HP:0100014
51095	TRNT1	Variable expressivity	HP:0003828
51095	TRNT1	Lactic acidosis	HP:0003128
51095	TRNT1	Nephrocalcinosis	HP:0000121
51095	TRNT1	Brittle hair	HP:0002299
51095	TRNT1	Rod-cone dystrophy	HP:0000510
51098	IFT52	Brachydactyly	HP:0001156
51098	IFT52	Narrow chest	HP:0000774
51098	IFT52	Sparse hair	HP:0008070
51098	IFT52	Autosomal recessive inheritance	HP:0000007
51098	IFT52	Dolichocephaly	HP:0000268
51098	IFT52	Prominent occiput	HP:0000269
51098	IFT52	Midface retrusion	HP:0011800
51098	IFT52	Short distal phalanx of finger	HP:0009882
51098	IFT52	Hypermetropia	HP:0000540
51098	IFT52	Hypodontia	HP:0000668
51098	IFT52	Carious teeth	HP:0000670
51098	IFT52	Epicanthus	HP:0000286
51098	IFT52	Hypoplasia of the corpus callosum	HP:0002079
51098	IFT52	Depressed nasal bridge	HP:0005280
51098	IFT52	Myopia	HP:0000545
51098	IFT52	Postaxial polydactyly	HP:0100259
51098	IFT52	Full cheeks	HP:0000293
51098	IFT52	Taurodontia	HP:0000679
51098	IFT52	Abnormality of dental enamel	HP:0000682
51098	IFT52	Osteoporosis	HP:0000939
51098	IFT52	Abnormal diaphysis morphology	HP:0000940
51098	IFT52	Widely spaced teeth	HP:0000687
51098	IFT52	Wide nasal bridge	HP:0000431
51098	IFT52	Abnormality of the metaphysis	HP:0000944
51098	IFT52	Respiratory distress	HP:0002098
51098	IFT52	Microdontia	HP:0000691
51098	IFT52	High hypermetropia	HP:0008499
51098	IFT52	Sandal gap	HP:0001852
51098	IFT52	Joint hyperflexibility	HP:0005692
51098	IFT52	Short metacarpal	HP:0010049
51098	IFT52	Short thorax	HP:0010306
51098	IFT52	Abnormal toenail morphology	HP:0008388
51098	IFT52	Rhizomelia	HP:0008905
51098	IFT52	Abnormal fingernail morphology	HP:0001231
51098	IFT52	Anteverted nares	HP:0000463
51098	IFT52	Craniosynostosis	HP:0001363
51098	IFT52	Finger syndactyly	HP:0006101
51098	IFT52	Frontal bossing	HP:0002007
51098	IFT52	Hypotelorism	HP:0000601
51098	IFT52	High forehead	HP:0000348
51098	IFT52	Short stature	HP:0004322
51098	IFT52	Limb undergrowth	HP:0009826
51098	IFT52	Everted lower lip vermilion	HP:0000232
51098	IFT52	Flat acetabular roof	HP:0003180
51098	IFT52	Low-set ears	HP:0000369
51098	IFT52	Clinodactyly of the 5th finger	HP:0004209
51098	IFT52	Motor delay	HP:0001270
51098	IFT52	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
51098	IFT52	Short metatarsal	HP:0010743
51098	IFT52	Telecanthus	HP:0000506
51098	IFT52	Pectus excavatum	HP:0000767
51098	IFT52	Nystagmus	HP:0000639
1947	EFNB1	Umbilical hernia	HP:0001537
1947	EFNB1	Brachydactyly	HP:0001156
1947	EFNB1	Congenital diaphragmatic hernia	HP:0000776
1947	EFNB1	Hand polydactyly	HP:0001161
1947	EFNB1	Generalized hypotonia	HP:0001290
1947	EFNB1	Abnormality of the rib cage	HP:0001547
1947	EFNB1	Camptodactyly of finger	HP:0100490
1947	EFNB1	Unilateral breast hypoplasia	HP:0012813
1947	EFNB1	Ridged nail	HP:0001807
1947	EFNB1	X-linked dominant inheritance	HP:0001423
1947	EFNB1	Sprengel anomaly	HP:0000912
1947	EFNB1	Fragile nails	HP:0001808
1947	EFNB1	Split nail	HP:0001809
1947	EFNB1	Sensorineural hearing impairment	HP:0000407
1947	EFNB1	Midline defect of the nose	HP:0004122
1947	EFNB1	Cryptorchidism	HP:0000028
1947	EFNB1	Hypoplastic nasal tip	HP:0005278
1947	EFNB1	Hypoplasia of the corpus callosum	HP:0002079
1947	EFNB1	Axillary pterygium	HP:0001060
1947	EFNB1	Abnormality of the dentition	HP:0000164
1947	EFNB1	Hypospadias	HP:0000047
1947	EFNB1	Wide nasal bridge	HP:0000431
1947	EFNB1	Cleft palate	HP:0000175
1947	EFNB1	Woolly hair	HP:0002224
1947	EFNB1	Shawl scrotum	HP:0000049
1947	EFNB1	Aplasia/Hypoplasia of the nipples	HP:0006709
1947	EFNB1	Congenital pseudoarthrosis of the clavicle	HP:0006585
1947	EFNB1	Hypertelorism	HP:0000316
1947	EFNB1	Joint hyperflexibility	HP:0005692
1947	EFNB1	Sandal gap	HP:0001852
1947	EFNB1	Exotropia	HP:0000577
1947	EFNB1	Facial asymmetry	HP:0000324
1947	EFNB1	Broad hallux	HP:0010055
1947	EFNB1	Bifid nasal tip	HP:0000456
1947	EFNB1	Depressed nasal ridge	HP:0000457
1947	EFNB1	Oral cleft	HP:0000202
1947	EFNB1	Broad hallux phalanx	HP:0010059
1947	EFNB1	Cleft upper lip	HP:0000204
1947	EFNB1	Plagiocephaly	HP:0001357
1947	EFNB1	Ridged fingernail	HP:0008402
1947	EFNB1	Craniosynostosis	HP:0001363
1947	EFNB1	Finger syndactyly	HP:0006101
1947	EFNB1	Down-sloping shoulders	HP:0200021
1947	EFNB1	Short neck	HP:0000470
1947	EFNB1	Frontal bossing	HP:0002007
1947	EFNB1	Coronal craniosynostosis	HP:0004440
1947	EFNB1	Scoliosis	HP:0002650
1947	EFNB1	High palate	HP:0000218
1947	EFNB1	Thickened nuchal skin fold	HP:0000474
1947	EFNB1	Widow's peak	HP:0000349
1947	EFNB1	Intellectual disability	HP:0001249
1947	EFNB1	Short stature	HP:0004322
1947	EFNB1	Muscular hypotonia	HP:0001252
1947	EFNB1	Toe syndactyly	HP:0001770
1947	EFNB1	Joint laxity	HP:0001388
1947	EFNB1	Downslanted palpebral fissures	HP:0000494
1947	EFNB1	Global developmental delay	HP:0001263
1947	EFNB1	Clinodactyly of the 5th finger	HP:0004209
1947	EFNB1	Low posterior hairline	HP:0002162
1947	EFNB1	Breast hypoplasia	HP:0003187
1947	EFNB1	Hemihypotrophy of lower limb	HP:0200053
1947	EFNB1	Brachycephaly	HP:0000248
1947	EFNB1	Agenesis of corpus callosum	HP:0001274
1947	EFNB1	Telecanthus	HP:0000506
1947	EFNB1	Microcephaly	HP:0000252
1947	EFNB1	Pectus excavatum	HP:0000767
1947	EFNB1	Nystagmus	HP:0000639
51099	ABHD5	Hepatomegaly	HP:0002240
51099	ABHD5	Small earlobe	HP:0000385
51099	ABHD5	EMG: myopathic abnormalities	HP:0003458
51099	ABHD5	Areflexia	HP:0001284
51099	ABHD5	Micronodular cirrhosis	HP:0001413
51099	ABHD5	Autosomal recessive inheritance	HP:0000007
51099	ABHD5	Subcapsular cataract	HP:0000523
51099	ABHD5	Abnormality of blood and blood-forming tissues	HP:0001871
51099	ABHD5	Increased intramyocellular lipid droplets	HP:0012240
51099	ABHD5	Ectropion	HP:0000656
51099	ABHD5	Abnormal circulating creatine kinase concentration	HP:0040081
51099	ABHD5	Sensorineural hearing impairment	HP:0000407
51099	ABHD5	Shoulder girdle muscle weakness	HP:0003547
51099	ABHD5	Elevated hepatic transaminase	HP:0002910
51099	ABHD5	Central nervous system degeneration	HP:0007009
51099	ABHD5	Intellectual disability	HP:0001249
51099	ABHD5	Short stature	HP:0004322
51099	ABHD5	Ataxia	HP:0001251
51099	ABHD5	Cardiomyopathy	HP:0001638
51099	ABHD5	Strabismus	HP:0000486
51099	ABHD5	Microtia	HP:0008551
51099	ABHD5	Everted lower lip vermilion	HP:0000232
51099	ABHD5	Increased CSF protein	HP:0002922
51099	ABHD5	Hypertriglyceridemia	HP:0002155
51099	ABHD5	Muscle weakness	HP:0001324
51099	ABHD5	Global developmental delay	HP:0001263
51099	ABHD5	Progressive proximal muscle weakness	HP:0009073
51099	ABHD5	Difficulty walking	HP:0002355
51099	ABHD5	Hepatic steatosis	HP:0001397
51099	ABHD5	Abnormal granulocyte morphology	HP:0001911
51099	ABHD5	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
51099	ABHD5	Eclabion	HP:0012472
51099	ABHD5	Ptosis	HP:0000508
51099	ABHD5	Alopecia	HP:0001596
51099	ABHD5	Myopathy	HP:0003198
51099	ABHD5	Nystagmus	HP:0000639
26525	IL36RN	Epidermal acanthosis	HP:0025092
26525	IL36RN	Geographic tongue	HP:0025252
26525	IL36RN	Pustule	HP:0200039
26525	IL36RN	Cholangitis	HP:0030151
26525	IL36RN	Autosomal recessive inheritance	HP:0000007
26525	IL36RN	Parakeratosis	HP:0001036
26525	IL36RN	Nail dystrophy	HP:0008404
26525	IL36RN	Nail dysplasia	HP:0002164
26525	IL36RN	Psoriasiform dermatitis	HP:0003765
26525	IL36RN	Fever	HP:0001945
26525	IL36RN	Oligoarthritis	HP:0040313
26525	IL36RN	Furrowed tongue	HP:0000221
26525	IL36RN	Erythema	HP:0010783
1950	EGF	Hypermagnesiuria	HP:0012608
1950	EGF	Poor speech	HP:0002465
1950	EGF	Seizures	HP:0001250
1950	EGF	Hypomagnesemia	HP:0002917
1950	EGF	Intellectual disability, moderate	HP:0002342
1950	EGF	Ventriculomegaly	HP:0002119
1950	EGF	Autosomal recessive inheritance	HP:0000007
1950	EGF	Obesity	HP:0001513
1950	EGF	Headache	HP:0002315
1950	EGF	Moderate global developmental delay	HP:0011343
1950	EGF	Global developmental delay	HP:0001263
1950	EGF	Vertigo	HP:0002321
1950	EGF	Hyperactive deep tendon reflexes	HP:0006801
1950	EGF	Autistic behavior	HP:0000729
1950	EGF	Generalized muscle weakness	HP:0003324
1950	EGF	Microcephaly	HP:0000252
1950	EGF	Abnormal myelination	HP:0012447
51102	MECR	Ataxia	HP:0001251
51102	MECR	Hyperreflexia	HP:0001347
51102	MECR	Autosomal recessive inheritance	HP:0000007
51102	MECR	Gait disturbance	HP:0001288
51102	MECR	Optic atrophy	HP:0000648
51102	MECR	Spasticity	HP:0001257
51102	MECR	Dysarthria	HP:0001260
51102	MECR	Craniofacial dystonia	HP:0012179
51102	MECR	Variable expressivity	HP:0003828
51102	MECR	Dyskinesia	HP:0100660
51102	MECR	Motor delay	HP:0001270
51102	MECR	Myoclonus	HP:0001336
51102	MECR	Chorea	HP:0002072
51102	MECR	Visual impairment	HP:0000505
51102	MECR	Progressive	HP:0003676
51102	MECR	Dysphagia	HP:0002015
51102	MECR	Nystagmus	HP:0000639
10142	AKAP9	Autosomal dominant inheritance	HP:0000006
10142	AKAP9	Prolonged QT interval	HP:0001657
10142	AKAP9	Syncope	HP:0001279
51103	NDUFAF1	Hepatomegaly	HP:0002240
51103	NDUFAF1	Congestive heart failure	HP:0001635
51103	NDUFAF1	Hypertrophic cardiomyopathy	HP:0001639
51103	NDUFAF1	Increased serum lactate	HP:0002151
51103	NDUFAF1	Retinopathy	HP:0000488
51103	NDUFAF1	Infantile onset	HP:0003593
51103	NDUFAF1	Global developmental delay	HP:0001263
51103	NDUFAF1	Encephalopathy	HP:0001298
51103	NDUFAF1	Variable expressivity	HP:0003828
51103	NDUFAF1	Kyphosis	HP:0002808
51103	NDUFAF1	Scoliosis	HP:0002650
51103	NDUFAF1	Macrovesicular hepatic steatosis	HP:0001403
51103	NDUFAF1	Abnormal mitochondria in muscle tissue	HP:0008316
51103	NDUFAF1	Myopathy	HP:0003198
10144	FAM13A	Gastroesophageal reflux	HP:0002020
10144	FAM13A	Clubbing of fingers	HP:0100759
10144	FAM13A	Honeycomb lung	HP:0025175
10144	FAM13A	Ground-glass opacification on pulmonary HRCT	HP:0025179
10144	FAM13A	Exertional dyspnea	HP:0002875
10144	FAM13A	Pulmonary insufficiency	HP:0010444
10144	FAM13A	Crackles	HP:0030830
10144	FAM13A	Pulmonary fibrosis	HP:0002206
10144	FAM13A	Bronchiectasis	HP:0002110
10144	FAM13A	Reticular pattern on pulmonary HRCT	HP:0025390
10144	FAM13A	Cough	HP:0012735
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	Autosomal recessive inheritance	HP:0000007
1954	MEGF8	Oxycephaly	HP:0000263
1954	MEGF8	Postaxial hand polydactyly	HP:0001162
1954	MEGF8	Retrognathia	HP:0000278
1954	MEGF8	Sensorineural hearing impairment	HP:0000407
1954	MEGF8	Sparse and thin eyebrow	HP:0000535
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	Shawl scrotum	HP:0000049
1954	MEGF8	Preaxial foot polydactyly	HP:0001841
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	Cutis laxa	HP:0000973
1954	MEGF8	Narrow naris	HP:0009933
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	Camptodactyly	HP:0012385
1954	MEGF8	Abnormal cornea morphology	HP:0000481
1954	MEGF8	Intellectual disability	HP:0001249
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	Dextrocardia	HP:0001651
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	Aplasia of the middle phalanx of the hand	HP:0010239
1954	MEGF8	Pectus excavatum	HP:0000767
1956	EGFR	Papule	HP:0200034
1956	EGFR	Pustule	HP:0200039
1956	EGFR	Epidermal acanthosis	HP:0025092
1956	EGFR	Recurrent pneumonia	HP:0006532
1956	EGFR	Failure to thrive	HP:0001508
1956	EGFR	Autosomal recessive inheritance	HP:0000007
1956	EGFR	Edema	HP:0000969
1956	EGFR	Long eyelashes	HP:0000527
1956	EGFR	Recurrent bronchiolitis	HP:0100501
1956	EGFR	Hypertension	HP:0000822
1956	EGFR	Dehydration	HP:0001944
1956	EGFR	Vomiting	HP:0002013
1956	EGFR	Diarrhea	HP:0002014
10149	ADGRG2	Abnormal renal morphology	HP:0012210
10149	ADGRG2	Male infertility	HP:0003251
10149	ADGRG2	Absent vas deferens	HP:0012873
10149	ADGRG2	X-linked inheritance	HP:0001417
10149	ADGRG2	Obstructive azoospermia	HP:0011962
10149	ADGRG2	Azoospermia	HP:0000027
10149	ADGRG2	Oligospermia	HP:0000798
51109	RDH11	Malar flattening	HP:0000272
51109	RDH11	Dental malocclusion	HP:0000689
51109	RDH11	Short stature	HP:0004322
51109	RDH11	Upslanted palpebral fissure	HP:0000582
51109	RDH11	Autosomal recessive inheritance	HP:0000007
51109	RDH11	Retinal dystrophy	HP:0000556
51109	RDH11	Psychomotor retardation	HP:0025356
51109	RDH11	Mottled pigmentation	HP:0001070
51109	RDH11	Global developmental delay	HP:0001263
51109	RDH11	Widely spaced teeth	HP:0000687
83879	CDCA7	Macrocephaly	HP:0000256
83879	CDCA7	Umbilical hernia	HP:0001537
83879	CDCA7	Autosomal recessive inheritance	HP:0000007
83879	CDCA7	Polydactyly	HP:0010442
83879	CDCA7	Flat face	HP:0012368
83879	CDCA7	Agammaglobulinemia	HP:0004432
83879	CDCA7	Abnormality of neutrophils	HP:0001874
83879	CDCA7	Abnormality of chromosome stability	HP:0003220
83879	CDCA7	Conductive hearing impairment	HP:0000405
83879	CDCA7	Decreased antibody level in blood	HP:0004313
83879	CDCA7	Micrognathia	HP:0000347
83879	CDCA7	Cryptorchidism	HP:0000028
83879	CDCA7	Recurrent respiratory infections	HP:0002205
83879	CDCA7	Epicanthus	HP:0000286
83879	CDCA7	Macroglossia	HP:0000158
83879	CDCA7	Recurrent infections	HP:0002719
83879	CDCA7	Depressed nasal bridge	HP:0005280
83879	CDCA7	Lymphopenia	HP:0001888
83879	CDCA7	Intellectual disability	HP:0001249
83879	CDCA7	Short stature	HP:0004322
83879	CDCA7	Strabismus	HP:0000486
83879	CDCA7	Hypoplastic ischia	HP:0003175
83879	CDCA7	Intrauterine growth retardation	HP:0001511
83879	CDCA7	Malabsorption	HP:0002024
83879	CDCA7	Anemia	HP:0001903
83879	CDCA7	Global developmental delay	HP:0001263
83879	CDCA7	Hypospadias	HP:0000047
83879	CDCA7	Low-set ears	HP:0000369
83879	CDCA7	Communicating hydrocephalus	HP:0001334
83879	CDCA7	Protruding tongue	HP:0010808
83879	CDCA7	Hypertelorism	HP:0000316
83879	CDCA7	Short nose	HP:0003196
83879	CDCA7	Microcephaly	HP:0000252
83879	CDCA7	Cellular immunodeficiency	HP:0005374
1959	EGR2	Foot dorsiflexor weakness	HP:0009027
1959	EGR2	Areflexia	HP:0001284
1959	EGR2	Autosomal dominant inheritance	HP:0000006
1959	EGR2	Autosomal recessive inheritance	HP:0000007
1959	EGR2	Infantile onset	HP:0003593
1959	EGR2	Generalized hypotonia	HP:0001290
1959	EGR2	Abnormal cranial nerve morphology	HP:0001291
1959	EGR2	Peripheral hypomyelination	HP:0007182
1959	EGR2	Heterogeneous	HP:0001425
1959	EGR2	Split hand	HP:0001171
1959	EGR2	Segmental peripheral demyelination/remyelination	HP:0003481
1959	EGR2	Ulnar claw	HP:0001178
1959	EGR2	Upper limb muscle weakness	HP:0003484
1959	EGR2	Distal muscle weakness	HP:0002460
1959	EGR2	Pes cavus	HP:0001761
1959	EGR2	Muscular hypotonia	HP:0001252
1959	EGR2	Juvenile onset	HP:0003621
1959	EGR2	Hammertoe	HP:0001765
1959	EGR2	Peripheral neuropathy	HP:0009830
1959	EGR2	Decreased motor nerve conduction velocity	HP:0003431
1959	EGR2	Neonatal hypotonia	HP:0001319
1959	EGR2	Increased CSF protein	HP:0002922
1959	EGR2	Distal amyotrophy	HP:0003693
1959	EGR2	Steppage gait	HP:0003376
1959	EGR2	Hyporeflexia	HP:0001265
1959	EGR2	Variable expressivity	HP:0003828
1959	EGR2	Decreased number of peripheral myelinated nerve fibers	HP:0003380
1959	EGR2	Motor delay	HP:0001270
1959	EGR2	Hypertrophic nerve changes	HP:0003382
1959	EGR2	Onion bulb formation	HP:0003383
1959	EGR2	Sensory ataxia	HP:0010871
1959	EGR2	Distal sensory impairment	HP:0002936
1959	EGR2	Congenital onset	HP:0003577
1959	EGR2	Kyphoscoliosis	HP:0002751
1959	EGR2	Nystagmus	HP:0000639
51111	KMT5B	Intellectual disability	HP:0001249
51111	KMT5B	Febrile seizures	HP:0002373
51111	KMT5B	Autosomal dominant inheritance	HP:0000006
51111	KMT5B	Autistic behavior	HP:0000729
51111	KMT5B	Delayed speech and language development	HP:0000750
51111	KMT5B	Global developmental delay	HP:0001263
51112	TRAPPC12	Feeding difficulties	HP:0011968
51112	TRAPPC12	Cerebral visual impairment	HP:0100704
51112	TRAPPC12	Seizures	HP:0001250
51112	TRAPPC12	Ventriculomegaly	HP:0002119
51112	TRAPPC12	Developmental regression	HP:0002376
51112	TRAPPC12	Cerebral cortical atrophy	HP:0002120
51112	TRAPPC12	Optic atrophy	HP:0000648
51112	TRAPPC12	Spasticity	HP:0001257
51112	TRAPPC12	Hypoplasia of the pons	HP:0012110
51112	TRAPPC12	Global developmental delay	HP:0001263
51112	TRAPPC12	Encephalopathy	HP:0001298
51112	TRAPPC12	Dystonia	HP:0001332
51112	TRAPPC12	Myoclonus	HP:0001336
51112	TRAPPC12	Congenital onset	HP:0003577
51112	TRAPPC12	Hypsarrhythmia	HP:0002521
51112	TRAPPC12	Agenesis of corpus callosum	HP:0001274
51112	TRAPPC12	Progressive	HP:0003676
51112	TRAPPC12	Dysphagia	HP:0002015
51114	ZDHHC9	Pectus carinatum	HP:0000768
51114	ZDHHC9	Macrocephaly	HP:0000256
51114	ZDHHC9	Short philtrum	HP:0000322
51114	ZDHHC9	Behavioral abnormality	HP:0000708
51114	ZDHHC9	Brachydactyly	HP:0001156
51114	ZDHHC9	Psychosis	HP:0000709
51114	ZDHHC9	Hypoplasia of the maxilla	HP:0000327
51114	ZDHHC9	X-linked inheritance	HP:0001417
51114	ZDHHC9	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
51114	ZDHHC9	Camptodactyly of finger	HP:0100490
51114	ZDHHC9	Nasal speech	HP:0001611
51114	ZDHHC9	Arachnodactyly	HP:0001166
51114	ZDHHC9	Schizophrenia	HP:0100753
51114	ZDHHC9	Narrow face	HP:0000275
51114	ZDHHC9	High palate	HP:0000218
51114	ZDHHC9	Scoliosis	HP:0002650
51114	ZDHHC9	Protruding ear	HP:0000411
51114	ZDHHC9	Micrognathia	HP:0000347
51114	ZDHHC9	High forehead	HP:0000348
51114	ZDHHC9	Joint contracture of the 5th finger	HP:0009183
51114	ZDHHC9	Atrial septal defect	HP:0001631
51114	ZDHHC9	Intellectual disability	HP:0001249
51114	ZDHHC9	Hallucinations	HP:0000738
51114	ZDHHC9	Seizures	HP:0001250
51114	ZDHHC9	Pes planus	HP:0001763
51114	ZDHHC9	Muscular hypotonia	HP:0001252
51114	ZDHHC9	Strabismus	HP:0000486
51114	ZDHHC9	Dental crowding	HP:0000678
51114	ZDHHC9	Attention deficit hyperactivity disorder	HP:0007018
51114	ZDHHC9	Prominent nasal bridge	HP:0000426
51114	ZDHHC9	Disproportionate tall stature	HP:0001519
51114	ZDHHC9	Low-set ears	HP:0000369
51114	ZDHHC9	Macroorchidism	HP:0000053
51114	ZDHHC9	Neurological speech impairment	HP:0002167
51114	ZDHHC9	Brachycephaly	HP:0000248
51114	ZDHHC9	Joint hyperflexibility	HP:0005692
51114	ZDHHC9	Pectus excavatum	HP:0000767
1962	EHHADH	Short stature	HP:0004322
1962	EHHADH	Bowing of the legs	HP:0002979
1962	EHHADH	Variable expressivity	HP:0003828
1962	EHHADH	Glycosuria	HP:0003076
1962	EHHADH	Hyperphosphaturia	HP:0003109
1962	EHHADH	Metabolic acidosis	HP:0001942
1962	EHHADH	Autosomal dominant inheritance	HP:0000006
1962	EHHADH	Aminoaciduria	HP:0003355
1962	EHHADH	Rickets	HP:0002748
1962	EHHADH	Proteinuria	HP:0000093
10155	TRIM28	Weight loss	HP:0001824
10155	TRIM28	Neoplasm of the liver	HP:0002896
10155	TRIM28	Hypertension	HP:0000822
10155	TRIM28	Hematuria	HP:0000790
10155	TRIM28	Fever	HP:0001945
10155	TRIM28	Nephroblastoma	HP:0002667
10155	TRIM28	Abdominal pain	HP:0002027
10155	TRIM28	Lymphadenopathy	HP:0002716
10155	TRIM28	Aniridia	HP:0000526
10155	TRIM28	Neoplasm of the lung	HP:0100526
51116	MRPS2	Nonprogressive	HP:0003680
51116	MRPS2	Poor speech	HP:0002465
51116	MRPS2	Intellectual disability	HP:0001249
51116	MRPS2	Aciduria	HP:0012072
51116	MRPS2	Infantile onset	HP:0003593
51116	MRPS2	Global developmental delay	HP:0001263
51117	COQ4	Seizures	HP:0001250
51117	COQ4	Epileptic encephalopathy	HP:0200134
51117	COQ4	Autosomal recessive inheritance	HP:0000007
51117	COQ4	Increased serum lactate	HP:0002151
51117	COQ4	Intrauterine growth retardation	HP:0001511
51117	COQ4	Neonatal hypotonia	HP:0001319
51117	COQ4	Hypertrophic cardiomyopathy	HP:0001639
51117	COQ4	Cerebellar hypoplasia	HP:0001321
51117	COQ4	Patent ductus arteriosus	HP:0001643
51117	COQ4	Respiratory insufficiency	HP:0002093
51117	COQ4	Scoliosis	HP:0002650
51117	COQ4	Bradycardia	HP:0001662
51117	COQ4	Dysphagia	HP:0002015
51117	COQ4	Hypoplastic left heart	HP:0004383
10157	AASS	Short attention span	HP:0000736
10157	AASS	Intellectual disability	HP:0001249
10157	AASS	Hyperlysinuria	HP:0003297
10157	AASS	Seizures	HP:0001250
10157	AASS	Short stature	HP:0004322
10157	AASS	Muscular hypotonia	HP:0001252
10157	AASS	Autosomal recessive inheritance	HP:0000007
10157	AASS	Intellectual disability, mild	HP:0001256
10157	AASS	Infantile onset	HP:0003593
10157	AASS	Delayed speech and language development	HP:0000750
10157	AASS	Anemia	HP:0001903
10157	AASS	Histidinuria	HP:0002927
10157	AASS	Hyperactivity	HP:0000752
10157	AASS	Spastic diplegia	HP:0001264
10157	AASS	Hyperlysinemia	HP:0002161
10157	AASS	EEG abnormality	HP:0002353
10157	AASS	Abnormality of the genitourinary system	HP:0000119
10157	AASS	Ectopia lentis	HP:0001083
10157	AASS	Cognitive impairment	HP:0100543
51119	SBDS	Pectus carinatum	HP:0000768
51119	SBDS	Ichthyosis	HP:0008064
51119	SBDS	Persistence of hemoglobin F	HP:0011904
51119	SBDS	Narrow chest	HP:0000774
51119	SBDS	Autosomal recessive inheritance	HP:0000007
51119	SBDS	Gait disturbance	HP:0001288
51119	SBDS	Generalized hypotonia	HP:0001290
51119	SBDS	Steatorrhea	HP:0002570
51119	SBDS	Anterior rib cupping	HP:0000907
51119	SBDS	Bone marrow hypocellularity	HP:0005528
51119	SBDS	Enlargement of the costochondral junction	HP:0000920
51119	SBDS	Carious teeth	HP:0000670
51119	SBDS	Recurrent infections	HP:0002719
51119	SBDS	Myocardial necrosis	HP:0001700
51119	SBDS	Type I diabetes mellitus	HP:0100651
51119	SBDS	Osteopenia	HP:0000938
51119	SBDS	Myelodysplasia	HP:0002863
51119	SBDS	Abnormality of the metaphysis	HP:0000944
51119	SBDS	Specific learning disability	HP:0001328
51119	SBDS	Microdontia	HP:0000691
51119	SBDS	Proximal femoral epiphysiolysis	HP:0006461
51119	SBDS	Delayed skeletal maturation	HP:0002750
51119	SBDS	Hepatomegaly	HP:0002240
51119	SBDS	Short thorax	HP:0010306
51119	SBDS	Eczema	HP:0000964
51119	SBDS	Irregular ossification at anterior rib ends	HP:0006598
51119	SBDS	Acute myeloid leukemia	HP:0004808
51119	SBDS	Metaphyseal widening	HP:0003016
51119	SBDS	Exocrine pancreatic insufficiency	HP:0001738
51119	SBDS	Thrombocytopenia	HP:0001873
51119	SBDS	Neutropenia	HP:0001875
51119	SBDS	Proximal femoral metaphyseal irregularity	HP:0003411
51119	SBDS	Neonatal respiratory distress	HP:0002643
51119	SBDS	Pancytopenia	HP:0001876
51119	SBDS	Scoliosis	HP:0002650
51119	SBDS	Elevated hepatic transaminase	HP:0002910
51119	SBDS	Intellectual disability	HP:0001249
51119	SBDS	Short stature	HP:0004322
51119	SBDS	Recurrent aphthous stomatitis	HP:0011107
51119	SBDS	Narrow sacroiliac notch	HP:0008803
51119	SBDS	Failure to thrive	HP:0001508
51119	SBDS	Ovoid vertebral bodies	HP:0003300
51119	SBDS	Malabsorption	HP:0002024
51119	SBDS	Intellectual disability, mild	HP:0001256
51119	SBDS	Small for gestational age	HP:0001518
51119	SBDS	Anemia	HP:0001903
51119	SBDS	Global developmental delay	HP:0001263
51119	SBDS	Metaphyseal chondrodysplasia	HP:0005871
51119	SBDS	Metaphyseal sclerosis	HP:0004979
51119	SBDS	Nephrocalcinosis	HP:0000121
51119	SBDS	Aplastic anemia	HP:0001915
51119	SBDS	Coxa vara	HP:0002812
10159	ATP6AP2	Hyperreflexia	HP:0001347
10159	ATP6AP2	Autosomal recessive inheritance	HP:0000007
10159	ATP6AP2	Gait disturbance	HP:0001288
10159	ATP6AP2	Infantile onset	HP:0003593
10159	ATP6AP2	Spastic paraparesis	HP:0002313
10159	ATP6AP2	Apraxia	HP:0002186
10159	ATP6AP2	Diffuse cerebral atrophy	HP:0002506
10159	ATP6AP2	X-linked recessive inheritance	HP:0001419
10159	ATP6AP2	Cerebral atrophy	HP:0002059
10159	ATP6AP2	Hyperactive deep tendon reflexes	HP:0006801
10159	ATP6AP2	Hypomimic face	HP:0000338
10159	ATP6AP2	Resting tremor	HP:0002322
10159	ATP6AP2	Bradykinesia	HP:0002067
10159	ATP6AP2	Parkinsonism	HP:0001300
10159	ATP6AP2	Generalized tonic-clonic seizures	HP:0002069
10159	ATP6AP2	Cogwheel rigidity	HP:0002396
10159	ATP6AP2	Slow progression	HP:0003677
10159	ATP6AP2	Hypoplasia of the corpus callosum	HP:0002079
10159	ATP6AP2	Babinski sign	HP:0003487
10159	ATP6AP2	Astereognosia	HP:0010527
10159	ATP6AP2	Intellectual disability	HP:0001249
10159	ATP6AP2	Seizures	HP:0001250
10159	ATP6AP2	Agraphesthesia	HP:0011812
10159	ATP6AP2	Action tremor	HP:0002345
10159	ATP6AP2	Spasticity	HP:0001257
10159	ATP6AP2	Dilated third ventricle	HP:0007082
10159	ATP6AP2	Mask-like facies	HP:0000298
10159	ATP6AP2	Dilation of lateral ventricles	HP:0006956
10159	ATP6AP2	Delayed speech and language development	HP:0000750
10159	ATP6AP2	Hyporeflexia	HP:0001265
10159	ATP6AP2	Variable expressivity	HP:0003828
10159	ATP6AP2	Motor delay	HP:0001270
10159	ATP6AP2	Scissor gait	HP:0012407
10159	ATP6AP2	Cerebellar atrophy	HP:0001272
10159	ATP6AP2	Ankle clonus	HP:0011448
1967	EIF2B1	Macrocephaly	HP:0000256
1967	EIF2B1	Primary gonadal insufficiency	HP:0008193
1967	EIF2B1	Cessation of head growth	HP:0004485
1967	EIF2B1	Autosomal recessive inheritance	HP:0000007
1967	EIF2B1	Emotional lability	HP:0000712
1967	EIF2B1	Optic atrophy	HP:0000648
1967	EIF2B1	Developmental regression	HP:0002376
1967	EIF2B1	Gait disturbance	HP:0001288
1967	EIF2B1	CNS demyelination	HP:0007305
1967	EIF2B1	Generalized hypotonia	HP:0001290
1967	EIF2B1	Unsteady gait	HP:0002317
1967	EIF2B1	Premature ovarian insufficiency	HP:0008209
1967	EIF2B1	Primary amenorrhea	HP:0000786
1967	EIF2B1	Cerebral hypomyelination	HP:0006808
1967	EIF2B1	Fever	HP:0001945
1967	EIF2B1	Seizures	HP:0001250
1967	EIF2B1	Muscular hypotonia	HP:0001252
1967	EIF2B1	Juvenile onset	HP:0003621
1967	EIF2B1	Secondary amenorrhea	HP:0000869
1967	EIF2B1	Lethargy	HP:0001254
1967	EIF2B1	Decreased circulating progesterone	HP:0008233
1967	EIF2B1	Spasticity	HP:0001257
1967	EIF2B1	Delusions	HP:0000746
1967	EIF2B1	Blindness	HP:0000618
1967	EIF2B1	Dysarthria	HP:0001260
1967	EIF2B1	Personality changes	HP:0000751
1967	EIF2B1	Leukoencephalopathy	HP:0002352
1967	EIF2B1	Memory impairment	HP:0002354
1967	EIF2B1	Gliosis	HP:0002171
1968	EIF2S3	Drooling	HP:0002307
1968	EIF2S3	Spastic tetraparesis	HP:0001285
1968	EIF2S3	Tall chin	HP:0400000
1968	EIF2S3	Generalized hypotonia	HP:0001290
1968	EIF2S3	X-linked recessive inheritance	HP:0001419
1968	EIF2S3	Gait ataxia	HP:0002066
1968	EIF2S3	Long face	HP:0000276
1968	EIF2S3	Large earlobe	HP:0009748
1968	EIF2S3	Hypoglycemia	HP:0001943
1968	EIF2S3	Male hypogonadism	HP:0000026
1968	EIF2S3	Downturned corners of mouth	HP:0002714
1968	EIF2S3	Cryptorchidism	HP:0000028
1968	EIF2S3	Tapered finger	HP:0001182
1968	EIF2S3	Hypoplasia of the corpus callosum	HP:0002079
1968	EIF2S3	Babinski sign	HP:0003487
1968	EIF2S3	Myopia	HP:0000545
1968	EIF2S3	Poor speech	HP:0002465
1968	EIF2S3	Full cheeks	HP:0000293
1968	EIF2S3	Cleft lip	HP:0410030
1968	EIF2S3	Cleft palate	HP:0000175
1968	EIF2S3	EEG abnormality	HP:0002353
1968	EIF2S3	Difficulty walking	HP:0002355
1968	EIF2S3	Diabetes mellitus	HP:0000819
1968	EIF2S3	Depressed nasal tip	HP:0000437
1968	EIF2S3	Micropenis	HP:0000054
1968	EIF2S3	Delayed puberty	HP:0000823
1968	EIF2S3	Thick vermilion border	HP:0012471
1968	EIF2S3	Round face	HP:0000311
1968	EIF2S3	Growth hormone deficiency	HP:0000824
1968	EIF2S3	Open mouth	HP:0000194
1968	EIF2S3	Hyperreflexia	HP:0001347
1968	EIF2S3	Broad nasal tip	HP:0000455
1968	EIF2S3	Ventriculomegaly	HP:0002119
1968	EIF2S3	Agitation	HP:0000713
1968	EIF2S3	Aggressive behavior	HP:0000718
1968	EIF2S3	Severe global developmental delay	HP:0011344
1968	EIF2S3	Sloping forehead	HP:0000340
1968	EIF2S3	Long philtrum	HP:0000343
1968	EIF2S3	Intellectual disability	HP:0001249
1968	EIF2S3	Seizures	HP:0001250
1968	EIF2S3	Talipes equinovarus	HP:0001762
1968	EIF2S3	Muscular hypotonia	HP:0001252
1968	EIF2S3	Strabismus	HP:0000486
1968	EIF2S3	Growth delay	HP:0001510
1968	EIF2S3	Muscular hypotonia of the trunk	HP:0008936
1968	EIF2S3	Birth length less than 3rd percentile	HP:0003561
1968	EIF2S3	Obesity	HP:0001513
1968	EIF2S3	Spasticity	HP:0001257
1968	EIF2S3	Inability to walk	HP:0002540
1968	EIF2S3	Small for gestational age	HP:0001518
1968	EIF2S3	Delayed speech and language development	HP:0000750
1968	EIF2S3	Global developmental delay	HP:0001263
1968	EIF2S3	Intellectual disability, severe	HP:0010864
1968	EIF2S3	Variable expressivity	HP:0003828
1968	EIF2S3	Microcephaly	HP:0000252
1968	EIF2S3	Hypertonia	HP:0001276
1968	EIF2S3	Nystagmus	HP:0000639
10161	LPAR6	Autosomal dominant inheritance	HP:0000006
10161	LPAR6	Cataract	HP:0000518
10161	LPAR6	Autosomal recessive inheritance	HP:0000007
10161	LPAR6	Nail pits	HP:0001803
10161	LPAR6	Sparse eyelashes	HP:0000653
10161	LPAR6	Ridged nail	HP:0001807
10161	LPAR6	Sparse and thin eyebrow	HP:0000535
10161	LPAR6	Sparse lateral eyebrow	HP:0005338
10161	LPAR6	Dry hair	HP:0011359
10161	LPAR6	Hypopigmentation of hair	HP:0005599
10161	LPAR6	Abnormal retinal morphology	HP:0000479
10161	LPAR6	Coarse hair	HP:0002208
10161	LPAR6	Sparse scalp hair	HP:0002209
10161	LPAR6	Comedo	HP:0025249
10161	LPAR6	Fine hair	HP:0002213
10161	LPAR6	Strabismus	HP:0000486
10161	LPAR6	Sparse axillary hair	HP:0002215
10161	LPAR6	Abnormal pupil morphology	HP:0000615
10161	LPAR6	Slow-growing hair	HP:0002217
10161	LPAR6	Hypotrichosis of the scalp	HP:0004782
10161	LPAR6	Hypotrichosis	HP:0001006
10161	LPAR6	Fair hair	HP:0002286
10161	LPAR6	Woolly hair	HP:0002224
10161	LPAR6	Sparse body hair	HP:0002231
10161	LPAR6	Brittle hair	HP:0002299
10161	LPAR6	Alopecia	HP:0001596
1969	EPHA2	Myopia	HP:0000545
1969	EPHA2	Choroideremia	HP:0001139
1969	EPHA2	Autosomal dominant inheritance	HP:0000006
1969	EPHA2	Developmental cataract	HP:0000519
1969	EPHA2	Posterior polar cataract	HP:0001115
83893	SPATA16	Infertility	HP:0000789
83893	SPATA16	Autosomal recessive inheritance	HP:0000007
83893	SPATA16	Globozoospermia	HP:0012205
51124	IER3IP1	Feeding difficulties	HP:0011968
51124	IER3IP1	Pathologic fracture	HP:0002756
51124	IER3IP1	Brisk reflexes	HP:0001348
51124	IER3IP1	Autosomal recessive inheritance	HP:0000007
51124	IER3IP1	Hypogonadism	HP:0000135
51124	IER3IP1	Optic atrophy	HP:0000648
51124	IER3IP1	Intellectual disability, profound	HP:0002187
51124	IER3IP1	Generalized myoclonic seizures	HP:0002123
51124	IER3IP1	Anteverted nares	HP:0000463
51124	IER3IP1	Gingival overgrowth	HP:0000212
51124	IER3IP1	Narrow forehead	HP:0000341
51124	IER3IP1	Simplified gyral pattern	HP:0009879
51124	IER3IP1	Hypsarrhythmia	HP:0002521
51124	IER3IP1	High palate	HP:0000218
51124	IER3IP1	Cryptorchidism	HP:0000028
51124	IER3IP1	Recurrent respiratory infections	HP:0002205
51124	IER3IP1	Elevated hepatic transaminase	HP:0002910
51124	IER3IP1	Hypoplasia of the corpus callosum	HP:0002079
51124	IER3IP1	Delayed myelination	HP:0012448
51124	IER3IP1	Full cheeks	HP:0000293
51124	IER3IP1	Neonatal hypotonia	HP:0001319
51124	IER3IP1	Muscular hypotonia of the trunk	HP:0008936
51124	IER3IP1	Cerebellar hypoplasia	HP:0001321
51124	IER3IP1	Osteopenia	HP:0000938
51124	IER3IP1	Scrotal hypoplasia	HP:0000046
51124	IER3IP1	Global developmental delay	HP:0001263
51124	IER3IP1	Microalbuminuria	HP:0012594
51124	IER3IP1	Diabetes mellitus	HP:0000819
51124	IER3IP1	Tented upper lip vermilion	HP:0010804
51124	IER3IP1	Jaundice	HP:0000952
51124	IER3IP1	Congenital onset	HP:0003577
51124	IER3IP1	Microcephaly	HP:0000252
51124	IER3IP1	Ptosis	HP:0000508
10165	SLC25A13	Decreased HDL cholesterol concentration	HP:0003233
10165	SLC25A13	Hyperammonemia	HP:0001987
10165	SLC25A13	Hypermethioninemia	HP:0003235
10165	SLC25A13	Failure to thrive	HP:0001508
10165	SLC25A13	Pancreatitis	HP:0001733
10165	SLC25A13	Cerebral edema	HP:0002181
10165	SLC25A13	Growth delay	HP:0001510
10165	SLC25A13	Autosomal recessive inheritance	HP:0000007
10165	SLC25A13	Confusion	HP:0001289
10165	SLC25A13	Coma	HP:0001259
10165	SLC25A13	Hypertriglyceridemia	HP:0002155
10165	SLC25A13	Cirrhosis	HP:0001394
10165	SLC25A13	Hypercholesterolemia	HP:0003124
10165	SLC25A13	Hepatic steatosis	HP:0001397
10165	SLC25A13	Hyperbilirubinemia	HP:0002904
10165	SLC25A13	Hepatocellular carcinoma	HP:0001402
10165	SLC25A13	Elevated hepatic transaminase	HP:0002910
10165	SLC25A13	Elevated plasma citrulline	HP:0011966
10165	SLC25A13	Intrahepatic cholestasis	HP:0001406
10166	SLC25A15	Hepatomegaly	HP:0002240
10166	SLC25A15	Decreased liver function	HP:0001410
10166	SLC25A15	Poor coordination	HP:0002370
10166	SLC25A15	Hyperammonemia	HP:0001987
10166	SLC25A15	Autosomal recessive inheritance	HP:0000007
10166	SLC25A15	Cerebral cortical atrophy	HP:0002120
10166	SLC25A15	Spastic paraparesis	HP:0002313
10166	SLC25A15	Confusion	HP:0001289
10166	SLC25A15	Generalized hypotonia	HP:0001290
10166	SLC25A15	Generalized myoclonic seizures	HP:0002123
10166	SLC25A15	Episodic vomiting	HP:0002572
10166	SLC25A15	Psychomotor retardation	HP:0025356
10166	SLC25A15	Morphological abnormality of the pyramidal tract	HP:0002062
10166	SLC25A15	Chorioretinal atrophy	HP:0000533
10166	SLC25A15	Hypopigmentation of the fundus	HP:0007894
10166	SLC25A15	Abnormal pyramidal sign	HP:0007256
10166	SLC25A15	Intellectual disability	HP:0001249
10166	SLC25A15	Failure to thrive	HP:0001508
10166	SLC25A15	Lethargy	HP:0001254
10166	SLC25A15	Coma	HP:0001259
10166	SLC25A15	Global developmental delay	HP:0001263
10166	SLC25A15	Specific learning disability	HP:0001328
10166	SLC25A15	Acute hepatitis	HP:0200119
10166	SLC25A15	Protein avoidance	HP:0002038
10166	SLC25A15	Clonus	HP:0002169
10166	SLC25A15	Decreased nerve conduction velocity	HP:0000762
10166	SLC25A15	Hyperornithinemia	HP:0012026
10166	SLC25A15	Acute encephalopathy	HP:0006846
10166	SLC25A15	Impaired vibratory sensation	HP:0002495
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	Acanthocytosis	HP:0001927
51128	SAR1B	Autosomal recessive inheritance	HP:0000007
51128	SAR1B	Infantile onset	HP:0003593
51128	SAR1B	Hypocholesterolemia	HP:0003146
51128	SAR1B	Steatorrhea	HP:0002570
51128	SAR1B	Impaired proprioception	HP:0010831
51128	SAR1B	Abnormality of blood and blood-forming tissues	HP:0001871
51128	SAR1B	Vomiting	HP:0002013
51128	SAR1B	Abnormality of vitamin metabolism	HP:0100508
51128	SAR1B	Diarrhea	HP:0002014
51128	SAR1B	Elevated hepatic transaminase	HP:0002910
51128	SAR1B	Abnormality of the eye	HP:0000478
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	Decreased LDL cholesterol concentration	HP:0003563
51128	SAR1B	Malnutrition	HP:0004395
51128	SAR1B	Hepatic steatosis	HP:0001397
51128	SAR1B	Visual impairment	HP:0000505
51128	SAR1B	Impaired vibratory sensation	HP:0002495
51129	ANGPTL4	Autosomal dominant inheritance	HP:0000006
255928	SYT14	Intellectual disability	HP:0001249
255928	SYT14	Autosomal recessive inheritance	HP:0000007
255928	SYT14	Abnormality of ocular smooth pursuit	HP:0000617
255928	SYT14	Gaze-evoked horizontal nystagmus	HP:0007979
255928	SYT14	Dysarthria	HP:0001260
255928	SYT14	Psychomotor retardation	HP:0025356
255928	SYT14	Unsteady gait	HP:0002317
255928	SYT14	Global developmental delay	HP:0001263
255928	SYT14	Limb ataxia	HP:0002070
255928	SYT14	Cerebellar atrophy	HP:0001272
255928	SYT14	Impaired smooth pursuit	HP:0007772
255928	SYT14	Slow progression	HP:0003677
255928	SYT14	Truncal ataxia	HP:0002078
255928	SYT14	Dysphagia	HP:0002015
255928	SYT14	Nystagmus	HP:0000639
51132	RLIM	Small nail	HP:0001792
51132	RLIM	Prominent nose	HP:0000448
51132	RLIM	Feeding difficulties	HP:0011968
51132	RLIM	Hyperreflexia	HP:0001347
51132	RLIM	Brachydactyly	HP:0001156
51132	RLIM	Behavioral abnormality	HP:0000708
51132	RLIM	X-linked recessive inheritance	HP:0001419
51132	RLIM	Aggressive behavior	HP:0000718
51132	RLIM	Malar flattening	HP:0000272
51132	RLIM	Broad forehead	HP:0000337
51132	RLIM	Broad-based gait	HP:0002136
51132	RLIM	Hypotelorism	HP:0000601
51132	RLIM	Downturned corners of mouth	HP:0002714
51132	RLIM	Micrognathia	HP:0000347
51132	RLIM	Cryptorchidism	HP:0000028
51132	RLIM	Velopharyngeal insufficiency	HP:0000220
51132	RLIM	Decreased testicular size	HP:0008734
51132	RLIM	Dysphagia	HP:0002015
51132	RLIM	Narrow mouth	HP:0000160
51132	RLIM	Intellectual disability	HP:0001249
51132	RLIM	Poor speech	HP:0002465
51132	RLIM	Shyness	HP:0100962
51132	RLIM	Anxiety	HP:0000739
51132	RLIM	Fine hair	HP:0002213
51132	RLIM	Growth delay	HP:0001510
51132	RLIM	Broad thumb	HP:0011304
51132	RLIM	Spasticity	HP:0001257
51132	RLIM	Prominent nasal bridge	HP:0000426
51132	RLIM	Self-injurious behavior	HP:0100716
51132	RLIM	Downslanted palpebral fissures	HP:0000494
51132	RLIM	Delayed speech and language development	HP:0000750
51132	RLIM	Hypospadias	HP:0000047
51132	RLIM	Wide nasal bridge	HP:0000431
51132	RLIM	Global developmental delay	HP:0001263
51132	RLIM	Micropenis	HP:0000054
51132	RLIM	Tremor	HP:0001337
51132	RLIM	Microcephaly	HP:0000252
51132	RLIM	Hypertelorism	HP:0000316
1981	EIF4G1	Akinesia	HP:0002304
1981	EIF4G1	Muscle spasm	HP:0003394
1981	EIF4G1	Cerebral cortical atrophy	HP:0002120
1981	EIF4G1	Agitation	HP:0000713
1981	EIF4G1	Monotonic speech	HP:0031435
1981	EIF4G1	Diplopia	HP:0000651
1981	EIF4G1	Depressivity	HP:0000716
1981	EIF4G1	Rigidity	HP:0002063
1981	EIF4G1	Schizophrenia	HP:0100753
1981	EIF4G1	Resting tremor	HP:0002322
1981	EIF4G1	Hypomimic face	HP:0000338
1981	EIF4G1	Bradykinesia	HP:0002067
1981	EIF4G1	Dementia	HP:0000726
1981	EIF4G1	Lewy bodies	HP:0100315
1981	EIF4G1	Spastic/hyperactive bladder	HP:0005340
1981	EIF4G1	Dysphagia	HP:0002015
1981	EIF4G1	Weight loss	HP:0001824
1981	EIF4G1	Chronic constipation	HP:0012450
1981	EIF4G1	Apathy	HP:0000741
1981	EIF4G1	Impulsivity	HP:0100710
1981	EIF4G1	Low frustration tolerance	HP:0000744
1981	EIF4G1	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
1981	EIF4G1	Dystonia	HP:0001332
1981	EIF4G1	Dyskinesia	HP:0100660
1981	EIF4G1	Frequent falls	HP:0002359
1981	EIF4G1	Sleep disturbance	HP:0002360
1981	EIF4G1	Hyposmia	HP:0004409
1981	EIF4G1	Shuffling gait	HP:0002362
1981	EIF4G1	Gliosis	HP:0002171
1981	EIF4G1	Postural instability	HP:0002172
1981	EIF4G1	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
1981	EIF4G1	Visual hallucinations	HP:0002367
51134	CEP83	Intellectual disability	HP:0001249
51134	CEP83	Tubulointerstitial nephritis	HP:0001970
51134	CEP83	Thickening of the glomerular basement membrane	HP:0004722
51134	CEP83	Cholestasis	HP:0001396
51134	CEP83	Portal fibrosis	HP:0006580
51134	CEP83	Retinitis	HP:0032118
51134	CEP83	Strabismus	HP:0000486
51134	CEP83	Autosomal recessive inheritance	HP:0000007
51134	CEP83	Nephronophthisis	HP:0000090
51134	CEP83	Tubular atrophy	HP:0000092
51134	CEP83	Hydrocephalus	HP:0000238
51134	CEP83	Stage 5 chronic kidney disease	HP:0003774
51135	IRAK4	Immunodeficiency	HP:0002721
51135	IRAK4	Neutropenia	HP:0001875
51135	IRAK4	Recurrent streptococcus pneumoniae infections	HP:0005366
51135	IRAK4	Autosomal recessive inheritance	HP:0000007
51135	IRAK4	Recurrent staphylococcal infections	HP:0007499
51142	CHCHD2	Resting tremor	HP:0002322
51142	CHCHD2	Bradykinesia	HP:0002067
51142	CHCHD2	Hyperreflexia	HP:0001347
51142	CHCHD2	Autosomal dominant inheritance	HP:0000006
51142	CHCHD2	Gait disturbance	HP:0001288
1991	ELANE	Periodontitis	HP:0000704
1991	ELANE	Autosomal dominant inheritance	HP:0000006
1991	ELANE	Sepsis	HP:0100806
1991	ELANE	Infantile onset	HP:0003593
1991	ELANE	Increased antibody level in blood	HP:0010702
1991	ELANE	Thrombocytopenia	HP:0001873
1991	ELANE	Neutropenia	HP:0001875
1991	ELANE	Abnormal eosinophil morphology	HP:0001879
1991	ELANE	Monocytosis	HP:0012311
1991	ELANE	Eosinophilia	HP:0001880
1991	ELANE	Abnormality of the mouth	HP:0000153
1991	ELANE	Fever	HP:0001945
1991	ELANE	Fatigue	HP:0012378
1991	ELANE	Oral ulcer	HP:0000155
1991	ELANE	Lymphadenopathy	HP:0002716
1991	ELANE	Recurrent respiratory infections	HP:0002205
1991	ELANE	Carious teeth	HP:0000670
1991	ELANE	Recurrent bacterial infections	HP:0002718
1991	ELANE	Cyclic neutropenia	HP:0040289
1991	ELANE	Recurrent aphthous stomatitis	HP:0011107
1991	ELANE	Growth abnormality	HP:0001507
1991	ELANE	Congenital agranulocytosis	HP:0005541
1991	ELANE	Thrombocytosis	HP:0001894
1991	ELANE	Abdominal pain	HP:0002027
1991	ELANE	Recurrent skin infections	HP:0001581
1991	ELANE	Acute monocytic leukemia	HP:0004845
1991	ELANE	Anemia	HP:0001903
1991	ELANE	Overlapping toe	HP:0001845
59335	PRDM12	Corneal ulceration	HP:0012804
59335	PRDM12	Hypohidrosis	HP:0000966
59335	PRDM12	Autosomal recessive inheritance	HP:0000007
59335	PRDM12	Corneal scarring	HP:0000559
59335	PRDM12	Recurrent infections	HP:0002719
59341	TRPV4	Pectus carinatum	HP:0000768
59341	TRPV4	Short femoral neck	HP:0100864
59341	TRPV4	Absent primary metaphyseal spongiosa	HP:0003332
59341	TRPV4	Nonprogressive muscular atrophy	HP:0008964
59341	TRPV4	Areflexia	HP:0001284
59341	TRPV4	Aplastic clavicle	HP:0006660
59341	TRPV4	Abnormality of the ribs	HP:0000772
59341	TRPV4	Autosomal dominant inheritance	HP:0000006
59341	TRPV4	Narrow chest	HP:0000774
59341	TRPV4	Hyperplasia of the femoral trochanters	HP:0002822
59341	TRPV4	Cataract	HP:0000518
59341	TRPV4	Abnormal enchondral ossification	HP:0003336
59341	TRPV4	Gait disturbance	HP:0001288
59341	TRPV4	Caudal appendage	HP:0002825
59341	TRPV4	Halberd-shaped pelvis	HP:0002826
59341	TRPV4	Motor polyneuropathy	HP:0007178
59341	TRPV4	Abnormality of the rib cage	HP:0001547
59341	TRPV4	Urinary urgency	HP:0000012
59341	TRPV4	Intercostal muscle weakness	HP:0004878
59341	TRPV4	Abnormality of the face	HP:0000271
59341	TRPV4	Long coccyx	HP:0002831
59341	TRPV4	Barrel-shaped chest	HP:0001552
59341	TRPV4	Flared femoral metaphysis	HP:0002834
59341	TRPV4	Urinary incontinence	HP:0000020
59341	TRPV4	Decreased fetal movement	HP:0001558
59341	TRPV4	Hypermetropia	HP:0000540
59341	TRPV4	Abnormal cortical bone morphology	HP:0003103
59341	TRPV4	Juvenile onset	HP:0003621
59341	TRPV4	Genu valgum	HP:0002857
59341	TRPV4	Abnormality of epiphysis morphology	HP:0005930
59341	TRPV4	Respiratory insufficiency	HP:0002093
59341	TRPV4	Aplasia/Hypoplasia of the lungs	HP:0006703
59341	TRPV4	Metatarsus adductus	HP:0001840
59341	TRPV4	Amyoplasia	HP:0003634
59341	TRPV4	Obstructive sleep apnea	HP:0002870
59341	TRPV4	Respiratory failure	HP:0002878
59341	TRPV4	Decreased distal sensory nerve action potential	HP:0007230
59341	TRPV4	Anisospondyly	HP:0002879
59341	TRPV4	Gowers sign	HP:0003391
59341	TRPV4	Rough bone trabeculation	HP:0100670
59341	TRPV4	Short distal phalanx of toe	HP:0001857
59341	TRPV4	Short thorax	HP:0010306
59341	TRPV4	Foot dorsiflexor weakness	HP:0009027
59341	TRPV4	Stridor	HP:0010307
59341	TRPV4	Vocal cord paresis	HP:0001604
59341	TRPV4	Flared humeral metaphysis	HP:0003911
59341	TRPV4	Proximal femoral metaphyseal irregularity	HP:0003411
59341	TRPV4	Abducens palsy	HP:0011349
59341	TRPV4	Down-sloping shoulders	HP:0200021
59341	TRPV4	Broad-based gait	HP:0002136
59341	TRPV4	Peroneal muscle atrophy	HP:0009049
59341	TRPV4	Scoliosis	HP:0002650
59341	TRPV4	Onset	HP:0003674
59341	TRPV4	Flexion contracture	HP:0001371
59341	TRPV4	High forehead	HP:0000348
59341	TRPV4	Skeletal dysplasia	HP:0002652
59341	TRPV4	Shortening of all middle phalanges of the toes	HP:0006239
59341	TRPV4	Spondyloepiphyseal dysplasia	HP:0002655
59341	TRPV4	Epiphyseal dysplasia	HP:0002656
59341	TRPV4	Limitation of joint mobility	HP:0001376
59341	TRPV4	Nonprogressive	HP:0003680
59341	TRPV4	Spondylometaphyseal dysplasia	HP:0002657
59341	TRPV4	Scapular muscle atrophy	HP:0009060
59341	TRPV4	Spinal muscular atrophy	HP:0007269
59341	TRPV4	Progressive distal muscle weakness	HP:0009063
59341	TRPV4	Hip dysplasia	HP:0001385
59341	TRPV4	Joint stiffness	HP:0001387
59341	TRPV4	Scapular winging	HP:0003691
59341	TRPV4	Flat acetabular roof	HP:0003180
59341	TRPV4	Distal amyotrophy	HP:0003693
59341	TRPV4	Avascular necrosis of the capital femoral epiphysis	HP:0005743
59341	TRPV4	Low-set, posteriorly rotated ears	HP:0000368
59341	TRPV4	Scapuloperoneal amyotrophy	HP:0003697
59341	TRPV4	Clinodactyly of the 5th finger	HP:0004209
59341	TRPV4	Small hand	HP:0200055
59341	TRPV4	Distal sensory impairment	HP:0002936
59341	TRPV4	Spinal cord compression	HP:0002176
59341	TRPV4	Irregular acetabular roof	HP:0008833
59341	TRPV4	Brachydactyly	HP:0001156
59341	TRPV4	Facial palsy	HP:0010628
59341	TRPV4	Clinodactyly	HP:0030084
59341	TRPV4	Camptodactyly of finger	HP:0100490
59341	TRPV4	Shoulder girdle muscle atrophy	HP:0003724
59341	TRPV4	Peripheral axonal neuropathy	HP:0003477
59341	TRPV4	Sensorineural hearing impairment	HP:0000407
59341	TRPV4	Diaphragmatic weakness	HP:0009113
59341	TRPV4	Short distal phalanx of finger	HP:0009882
59341	TRPV4	Distal muscle weakness	HP:0002460
59341	TRPV4	Platyspondyly	HP:0000926
59341	TRPV4	Depressed nasal bridge	HP:0005280
59341	TRPV4	Shortening of all distal phalanges of the toes	HP:0005793
59341	TRPV4	Elevated serum creatine kinase	HP:0003236
59341	TRPV4	Short finger	HP:0009381
59341	TRPV4	Micromelia	HP:0002983
59341	TRPV4	Hand muscle atrophy	HP:0009130
59341	TRPV4	Elbow flexion contracture	HP:0002987
59341	TRPV4	Osteoarthritis of the small joints of the hand	HP:0004268
59341	TRPV4	Cleft palate	HP:0000175
59341	TRPV4	Abnormality of the metaphysis	HP:0000944
59341	TRPV4	Irregular, rachitic-like metaphyses	HP:0005042
59341	TRPV4	Severe carpal ossification delay	HP:0006069
59341	TRPV4	Severe short stature	HP:0003510
59341	TRPV4	Short middle phalanx of finger	HP:0005819
59341	TRPV4	Delayed skeletal maturation	HP:0002750
59341	TRPV4	Kyphoscoliosis	HP:0002751
59341	TRPV4	Disproportionate short-trunk short stature	HP:0003521
59341	TRPV4	Fetal akinesia sequence	HP:0001989
59341	TRPV4	Flared metaphysis	HP:0003015
59341	TRPV4	Hip contracture	HP:0003273
59341	TRPV4	Relatively short spine	HP:0002766
59341	TRPV4	Peroneal muscle weakness	HP:0011727
59341	TRPV4	Waddling gait	HP:0002515
59341	TRPV4	Short middle phalanx of toe	HP:0003795
59341	TRPV4	Long thorax	HP:0100818
59341	TRPV4	Short neck	HP:0000470
59341	TRPV4	Oculomotor nerve palsy	HP:0012246
59341	TRPV4	Torticollis	HP:0000473
59341	TRPV4	Carpal bone hypoplasia	HP:0001498
59341	TRPV4	Childhood-onset short-trunk short stature	HP:0008922
59341	TRPV4	Increased vertebral height	HP:0004570
59341	TRPV4	Enlarged joints	HP:0003037
59341	TRPV4	Abnormality of the eye	HP:0000478
59341	TRPV4	Abnormality of the foot	HP:0001760
59341	TRPV4	Arthropathy	HP:0003040
59341	TRPV4	Pes cavus	HP:0001761
59341	TRPV4	Short stature	HP:0004322
59341	TRPV4	Talipes equinovarus	HP:0001762
59341	TRPV4	Muscle fiber splitting	HP:0003555
59341	TRPV4	Pes planus	HP:0001763
59341	TRPV4	Muscular hypotonia	HP:0001252
59341	TRPV4	Hammertoe	HP:0001765
59341	TRPV4	Cachexia	HP:0004326
59341	TRPV4	Abnormal metaphyseal vascular invasion	HP:0003562
59341	TRPV4	Hyperlordosis	HP:0003307
59341	TRPV4	Knee flexion contracture	HP:0006380
59341	TRPV4	Hydrocephalus	HP:0000238
59341	TRPV4	Hypoplasia of the odontoid process	HP:0003311
59341	TRPV4	Brachytelomesophalangy	HP:0005872
59341	TRPV4	Abnormal form of the vertebral bodies	HP:0003312
59341	TRPV4	Cranial nerve VI palsy	HP:0006897
59341	TRPV4	Hyporeflexia	HP:0001265
59341	TRPV4	Hypoplastic cervical vertebrae	HP:0008434
59341	TRPV4	Arthrogryposis multiplex congenita	HP:0002804
59341	TRPV4	Variable expressivity	HP:0003828
59341	TRPV4	Abnormality of the intervertebral disk	HP:0005108
59341	TRPV4	Incomplete penetrance	HP:0003829
59341	TRPV4	Motor delay	HP:0001270
59341	TRPV4	Kyphosis	HP:0002808
59341	TRPV4	Dumbbell-shaped metaphyses	HP:0002810
59341	TRPV4	Radial deviation of finger	HP:0009466
59341	TRPV4	Sensory neuropathy	HP:0000763
59341	TRPV4	Progressive distal muscular atrophy	HP:0008955
59341	TRPV4	Coxa vara	HP:0002812
59341	TRPV4	Proximal lower limb amyotrophy	HP:0008956
337867	UBAC2	Abnormal blistering of the skin	HP:0008066
337867	UBAC2	Avascular necrosis	HP:0010885
337867	UBAC2	Cataract	HP:0000518
337867	UBAC2	Myositis	HP:0100614
337867	UBAC2	Meningitis	HP:0001287
337867	UBAC2	Gait disturbance	HP:0001288
337867	UBAC2	Confusion	HP:0001289
337867	UBAC2	Arthralgia	HP:0002829
337867	UBAC2	Vertigo	HP:0002321
337867	UBAC2	Gangrene	HP:0100758
337867	UBAC2	Fever	HP:0001945
337867	UBAC2	Pleural effusion	HP:0002202
337867	UBAC2	Oral ulcer	HP:0000155
337867	UBAC2	Lymphadenopathy	HP:0002716
337867	UBAC2	Pulmonary embolism	HP:0002204
337867	UBAC2	Migraine	HP:0002076
337867	UBAC2	Weight loss	HP:0001824
337867	UBAC2	Acne	HP:0001061
337867	UBAC2	Pericarditis	HP:0001701
337867	UBAC2	Cranial nerve paralysis	HP:0006824
337867	UBAC2	Retrobulbar optic neuritis	HP:0100654
337867	UBAC2	Memory impairment	HP:0002354
337867	UBAC2	Pleuritis	HP:0002102
337867	UBAC2	Hemoptysis	HP:0002105
337867	UBAC2	Orchitis	HP:0100796
337867	UBAC2	Gastrointestinal hemorrhage	HP:0002239
337867	UBAC2	Pulmonary infiltrates	HP:0002113
337867	UBAC2	Hyperreflexia	HP:0001347
337867	UBAC2	Arterial thrombosis	HP:0004420
337867	UBAC2	Pancreatitis	HP:0001733
337867	UBAC2	Venous thrombosis	HP:0004936
337867	UBAC2	Developmental regression	HP:0002376
337867	UBAC2	Vasculitis	HP:0002633
337867	UBAC2	Paresthesia	HP:0003401
337867	UBAC2	Keratoconjunctivitis sicca	HP:0001097
337867	UBAC2	Subcutaneous nodule	HP:0001482
337867	UBAC2	Cerebral ischemia	HP:0002637
337867	UBAC2	Encephalitis	HP:0002383
337867	UBAC2	Splenomegaly	HP:0001744
337867	UBAC2	Renal insufficiency	HP:0000083
337867	UBAC2	Increased intracranial pressure	HP:0002516
337867	UBAC2	Glomerulopathy	HP:0100820
337867	UBAC2	Abnormal pyramidal sign	HP:0007256
337867	UBAC2	Arthritis	HP:0001369
337867	UBAC2	Fatigue	HP:0012378
337867	UBAC2	Irritability	HP:0000737
337867	UBAC2	Nausea and vomiting	HP:0002017
337867	UBAC2	Papule	HP:0200034
337867	UBAC2	Seizures	HP:0001250
337867	UBAC2	Recurrent aphthous stomatitis	HP:0011107
337867	UBAC2	Ataxia	HP:0001251
337867	UBAC2	Abnormal myocardium morphology	HP:0001637
337867	UBAC2	Photophobia	HP:0000613
337867	UBAC2	Immunologic hypersensitivity	HP:0100326
337867	UBAC2	Malabsorption	HP:0002024
337867	UBAC2	Retinopathy	HP:0000488
337867	UBAC2	Endocarditis	HP:0100584
337867	UBAC2	Blindness	HP:0000618
337867	UBAC2	Abdominal pain	HP:0002027
337867	UBAC2	Mitral regurgitation	HP:0001653
337867	UBAC2	Hemiparesis	HP:0001269
337867	UBAC2	Anorexia	HP:0002039
337867	UBAC2	Myocardial infarction	HP:0001658
337867	UBAC2	Aortic regurgitation	HP:0001659
337867	UBAC2	Myalgia	HP:0003326
51151	SLC45A2	Photophobia	HP:0000613
51151	SLC45A2	Hypoplasia of the fovea	HP:0007750
51151	SLC45A2	Strabismus	HP:0000486
51151	SLC45A2	Autosomal recessive inheritance	HP:0000007
51151	SLC45A2	Abnormality of the optic nerve	HP:0000587
51151	SLC45A2	Melanoma	HP:0002861
51151	SLC45A2	Basal cell carcinoma	HP:0002671
51151	SLC45A2	Thickened skin	HP:0001072
51151	SLC45A2	Macular hypoplasia	HP:0001104
51151	SLC45A2	Iris hypopigmentation	HP:0007730
51151	SLC45A2	Squamous cell carcinoma of the skin	HP:0006739
51151	SLC45A2	Hypopigmentation of the fundus	HP:0007894
51151	SLC45A2	Visual impairment	HP:0000505
51151	SLC45A2	Blue irides	HP:0000635
51151	SLC45A2	Albinism	HP:0001022
51151	SLC45A2	Nystagmus	HP:0000639
51151	SLC45A2	Hypopigmentation of hair	HP:0005599
59344	ALOXE3	Ichthyosis	HP:0008064
59344	ALOXE3	Small nail	HP:0001792
59344	ALOXE3	Hyperkeratosis	HP:0000962
59344	ALOXE3	Epidermal acanthosis	HP:0025092
59344	ALOXE3	Chronic otitis media	HP:0000389
59344	ALOXE3	Hypohidrosis	HP:0000966
59344	ALOXE3	Lack of skin elasticity	HP:0100679
59344	ALOXE3	Sparse hair	HP:0008070
59344	ALOXE3	Congenital ichthyosiform erythroderma	HP:0007431
59344	ALOXE3	Autosomal recessive inheritance	HP:0000007
59344	ALOXE3	Sepsis	HP:0100806
59344	ALOXE3	Paralysis	HP:0003470
59344	ALOXE3	Ectropion	HP:0000656
59344	ALOXE3	Renal insufficiency	HP:0000083
59344	ALOXE3	Palmoplantar keratoderma	HP:0000982
59344	ALOXE3	Corneal erosion	HP:0200020
59344	ALOXE3	Gangrene	HP:0100758
59344	ALOXE3	Thin nail	HP:0001816
59344	ALOXE3	Dehydration	HP:0001944
59344	ALOXE3	Hypergranulosis	HP:0025114
59344	ALOXE3	Pruritus	HP:0000989
59344	ALOXE3	Recurrent respiratory infections	HP:0002205
59344	ALOXE3	Erythema	HP:0010783
59344	ALOXE3	Abnormality of the helix	HP:0011039
59344	ALOXE3	Limitation of joint mobility	HP:0001376
59344	ALOXE3	Intellectual disability	HP:0001249
59344	ALOXE3	Short stature	HP:0004322
59344	ALOXE3	Failure to thrive	HP:0001508
59344	ALOXE3	Abnormality of the dentition	HP:0000164
59344	ALOXE3	Short finger	HP:0009381
59344	ALOXE3	Growth delay	HP:0001510
59344	ALOXE3	Short toe	HP:0001831
59344	ALOXE3	Everted lower lip vermilion	HP:0000232
59344	ALOXE3	External genital hypoplasia	HP:0003241
59344	ALOXE3	Aplasia/Hypoplasia of the eyebrow	HP:0100840
59344	ALOXE3	Keratitis	HP:0000491
59344	ALOXE3	Hearing impairment	HP:0000365
59344	ALOXE3	Hypotrichosis	HP:0001006
59344	ALOXE3	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
59344	ALOXE3	Eclabion	HP:0012472
59344	ALOXE3	Erythroderma	HP:0001019
59344	ALOXE3	Abnormal hair morphology	HP:0001595
59344	ALOXE3	Alopecia	HP:0001596
59344	ALOXE3	Abnormality of the nail	HP:0001597
59344	ALOXE3	Dry skin	HP:0000958
59344	ALOXE3	Cognitive impairment	HP:0100543
59345	GNB4	Steppage gait	HP:0003376
59345	GNB4	Hyporeflexia	HP:0001265
59345	GNB4	Pes cavus	HP:0001761
59345	GNB4	Hammertoe	HP:0001765
59345	GNB4	Autosomal dominant inheritance	HP:0000006
59345	GNB4	Onion bulb formation	HP:0003383
59345	GNB4	Distal sensory impairment	HP:0002936
59345	GNB4	Axonal regeneration	HP:0003450
59345	GNB4	Slow progression	HP:0003677
10194	TSHZ1	Conductive hearing impairment	HP:0000405
10194	TSHZ1	Autosomal dominant inheritance	HP:0000006
10194	TSHZ1	Hyposmia	HP:0004409
10194	TSHZ1	Atresia of the external auditory canal	HP:0000413
10195	ALG3	Small nail	HP:0001792
10195	ALG3	Joint contracture of the hand	HP:0009473
10195	ALG3	Bifid uvula	HP:0000193
10195	ALG3	Hyperreflexia	HP:0001347
10195	ALG3	Clinodactyly	HP:0030084
10195	ALG3	Long fingers	HP:0100807
10195	ALG3	Autosomal recessive inheritance	HP:0000007
10195	ALG3	Optic atrophy	HP:0000648
10195	ALG3	Clinodactyly of the 5th toe	HP:0001864
10195	ALG3	Cerebral atrophy	HP:0002059
10195	ALG3	Psychomotor retardation	HP:0025356
10195	ALG3	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
10195	ALG3	Macrotia	HP:0000400
10195	ALG3	Villous atrophy	HP:0011473
10195	ALG3	Hypsarrhythmia	HP:0002521
10195	ALG3	High palate	HP:0000218
10195	ALG3	Adducted thumb	HP:0001181
10195	ALG3	Vomiting	HP:0002013
10195	ALG3	Bulbous nose	HP:0000414
10195	ALG3	Epicanthus	HP:0000286
10195	ALG3	Diarrhea	HP:0002014
10195	ALG3	Depressed nasal bridge	HP:0005280
10195	ALG3	Talipes equinovarus	HP:0001762
10195	ALG3	Seizures	HP:0001250
10195	ALG3	Iris coloboma	HP:0000612
10195	ALG3	Failure to thrive	HP:0001508
10195	ALG3	Muscular hypotonia	HP:0001252
10195	ALG3	Strabismus	HP:0000486
10195	ALG3	Muscular hypotonia of the trunk	HP:0008936
10195	ALG3	Global developmental delay	HP:0001263
10195	ALG3	Wide nasal bridge	HP:0000431
10195	ALG3	Arthrogryposis multiplex congenita	HP:0002804
10195	ALG3	Nail dysplasia	HP:0002164
10195	ALG3	Severely reduced visual acuity	HP:0001141
10195	ALG3	Cerebellar atrophy	HP:0001272
10195	ALG3	Abnormality of vision	HP:0000504
10195	ALG3	Food intolerance	HP:0012537
10195	ALG3	Type I transferrin isoform profile	HP:0003642
10195	ALG3	Hypertonia	HP:0001276
10195	ALG3	Microcephaly	HP:0000252
26580	BSCL2	Umbilical hernia	HP:0001537
26580	BSCL2	Autosomal dominant inheritance	HP:0000006
26580	BSCL2	Autosomal recessive inheritance	HP:0000007
26580	BSCL2	Prominent umbilicus	HP:0001544
26580	BSCL2	Motor polyneuropathy	HP:0007178
26580	BSCL2	Cerebral atrophy	HP:0002059
26580	BSCL2	Unsteady gait	HP:0002317
26580	BSCL2	Lower limb spasticity	HP:0002061
26580	BSCL2	Spastic gait	HP:0002064
26580	BSCL2	Cystic angiomatosis of bone	HP:0002833
26580	BSCL2	Gait ataxia	HP:0002066
26580	BSCL2	Encephalopathy	HP:0001298
26580	BSCL2	Nephrolithiasis	HP:0000787
26580	BSCL2	Coarse facial features	HP:0000280
26580	BSCL2	Ventricular septal hypertrophy	HP:0005144
26580	BSCL2	Hand muscle weakness	HP:0030237
26580	BSCL2	Bone cyst	HP:0012062
26580	BSCL2	Polyphagia	HP:0002591
26580	BSCL2	Caudate atrophy	HP:0002340
26580	BSCL2	Reduced intraabdominal adipose tissue	HP:0025128
26580	BSCL2	Long foot	HP:0001833
26580	BSCL2	Pulmonary arterial hypertension	HP:0002092
26580	BSCL2	Mandibular prognathia	HP:0000303
26580	BSCL2	Loss of subcutaneous adipose tissue in limbs	HP:0003635
26580	BSCL2	Diabetes mellitus	HP:0000819
26580	BSCL2	Dystonia	HP:0001332
26580	BSCL2	Abnormality of skeletal muscle fiber size	HP:0012084
26580	BSCL2	Hypertension	HP:0000822
26580	BSCL2	Sleep disturbance	HP:0002360
26580	BSCL2	Myoclonus	HP:0001336
26580	BSCL2	Growth hormone deficiency	HP:0000824
26580	BSCL2	Tremor	HP:0001337
26580	BSCL2	Precocious puberty	HP:0000826
26580	BSCL2	Atherosclerosis	HP:0002621
26580	BSCL2	Respiratory failure	HP:0002878
26580	BSCL2	First dorsal interossei muscle weakness	HP:0003392
26580	BSCL2	Prolonged QTc interval	HP:0005184
26580	BSCL2	Thenar muscle atrophy	HP:0003393
26580	BSCL2	Labial hypertrophy	HP:0000065
26580	BSCL2	Hyperreflexia	HP:0001347
26580	BSCL2	Loss of speech	HP:0002371
26580	BSCL2	Foot dorsiflexor weakness	HP:0009027
26580	BSCL2	Brisk reflexes	HP:0001348
26580	BSCL2	Triangular face	HP:0000325
26580	BSCL2	Ventriculomegaly	HP:0002119
26580	BSCL2	Developmental regression	HP:0002376
26580	BSCL2	Hyperinsulinemia	HP:0000842
26580	BSCL2	Growth hormone excess	HP:0000845
26580	BSCL2	Prominent supraorbital ridges	HP:0000336
26580	BSCL2	Renal insufficiency	HP:0000083
26580	BSCL2	High pitched voice	HP:0001620
26580	BSCL2	Status epilepticus	HP:0002133
26580	BSCL2	Atlantoaxial dislocation	HP:0003414
26580	BSCL2	Insulin resistance	HP:0000855
26580	BSCL2	Abnormal pyramidal sign	HP:0007256
26580	BSCL2	Scoliosis	HP:0002650
26580	BSCL2	Onset	HP:0003674
26580	BSCL2	Flexion contracture	HP:0001371
26580	BSCL2	Progressive	HP:0003676
26580	BSCL2	Distal lower limb muscle weakness	HP:0009053
26580	BSCL2	Slow progression	HP:0003677
26580	BSCL2	Elevated hepatic transaminase	HP:0002910
26580	BSCL2	First dorsal interossei muscle atrophy	HP:0003426
26580	BSCL2	Tall stature	HP:0000098
26580	BSCL2	Thenar muscle weakness	HP:0003427
26580	BSCL2	Congestive heart failure	HP:0001635
26580	BSCL2	Decreased fertility in females	HP:0000868
26580	BSCL2	Secondary amenorrhea	HP:0000869
26580	BSCL2	Peripheral neuropathy	HP:0009830
26580	BSCL2	Hypertrophic cardiomyopathy	HP:0001639
26580	BSCL2	Generalized lipodystrophy	HP:0009064
26580	BSCL2	Progressive psychomotor deterioration	HP:0007272
26580	BSCL2	Hypertriglyceridemia	HP:0002155
26580	BSCL2	Cold-induced hand cramps	HP:0003435
26580	BSCL2	Oligomenorrhea	HP:0000876
26580	BSCL2	Insulin-resistant diabetes mellitus at puberty	HP:0000877
26580	BSCL2	Distal amyotrophy	HP:0003693
26580	BSCL2	Nephropathy	HP:0000112
26580	BSCL2	Progressive proximal muscle weakness	HP:0009073
26580	BSCL2	Cirrhosis	HP:0001394
26580	BSCL2	Hepatic steatosis	HP:0001397
26580	BSCL2	Impaired vibration sensation in the lower limbs	HP:0002166
26580	BSCL2	Hip pain	HP:0030838
26580	BSCL2	Hepatic failure	HP:0001399
26580	BSCL2	Knee pain	HP:0030839
26580	BSCL2	Distal sensory impairment	HP:0002936
26580	BSCL2	Myocardial infarction	HP:0001658
26580	BSCL2	Myopathy	HP:0003198
26580	BSCL2	Bradycardia	HP:0001662
26580	BSCL2	Postural tremor	HP:0002174
26580	BSCL2	Skeletal muscle hypertrophy	HP:0003712
26580	BSCL2	Generalized muscular appearance from birth	HP:0003716
26580	BSCL2	Ankle weakness	HP:0031374
26580	BSCL2	Progressive encephalopathy	HP:0002448
26580	BSCL2	Macrotia	HP:0000400
26580	BSCL2	Decreased fertility	HP:0000144
26580	BSCL2	Pes valgus	HP:0008081
26580	BSCL2	Heterogeneous	HP:0001425
26580	BSCL2	Abnormal circulating creatine kinase concentration	HP:0040081
26580	BSCL2	Limb dystonia	HP:0002451
26580	BSCL2	Polycystic ovaries	HP:0000147
26580	BSCL2	Split hand	HP:0001171
26580	BSCL2	Large hands	HP:0001176
26580	BSCL2	Exercise-induced myalgia	HP:0003738
26580	BSCL2	Upper limb muscle weakness	HP:0003484
26580	BSCL2	Distal muscle weakness	HP:0002460
26580	BSCL2	Babinski sign	HP:0003487
26580	BSCL2	Recurrent infections	HP:0002719
26580	BSCL2	Decreased circulating IgA level	HP:0002720
26580	BSCL2	Immunodeficiency	HP:0002721
26580	BSCL2	Abnormal oral cavity morphology	HP:0000163
26580	BSCL2	Lipodystrophy	HP:0009125
26580	BSCL2	Palpitations	HP:0001962
26580	BSCL2	Osteopenia	HP:0000938
26580	BSCL2	Hand muscle atrophy	HP:0009130
26580	BSCL2	Osteoporosis	HP:0000939
26580	BSCL2	Lower limb muscle weakness	HP:0007340
26580	BSCL2	Reduced subcutaneous adipose tissue	HP:0003758
26580	BSCL2	Ventricular hypertrophy	HP:0001714
26580	BSCL2	Generalized hirsutism	HP:0002230
26580	BSCL2	Acanthosis nigricans	HP:0000956
26580	BSCL2	Delayed skeletal maturation	HP:0002750
26580	BSCL2	Impaired vibratory sensation	HP:0002495
26580	BSCL2	Hepatomegaly	HP:0002240
26580	BSCL2	Arterial stenosis	HP:0100545
26580	BSCL2	Abnormal motor nerve conduction velocity	HP:0040131
26580	BSCL2	Pancreatitis	HP:0001733
26580	BSCL2	Recurrent fractures	HP:0002757
26580	BSCL2	Acute pancreatitis	HP:0001735
26580	BSCL2	Hyperhidrosis	HP:0000975
26580	BSCL2	Splenomegaly	HP:0001744
26580	BSCL2	Glomerulopathy	HP:0100820
26580	BSCL2	Clitoral hypertrophy	HP:0008665
26580	BSCL2	Decreased serum leptin	HP:0003292
26580	BSCL2	Muscle stiffness	HP:0003552
26580	BSCL2	Tetraparesis	HP:0002273
26580	BSCL2	Neuronal loss in central nervous system	HP:0002529
26580	BSCL2	Pes cavus	HP:0001761
26580	BSCL2	Reduced intrathoracic adipose tissue	HP:0003809
26580	BSCL2	Intellectual disability	HP:0001249
26580	BSCL2	Seizures	HP:0001250
26580	BSCL2	Poor motor coordination	HP:0002275
26580	BSCL2	Ataxia	HP:0001251
26580	BSCL2	Lipoatrophy	HP:0100578
26580	BSCL2	Pes planus	HP:0001763
26580	BSCL2	Failure to thrive	HP:0001508
26580	BSCL2	Hammertoe	HP:0001765
26580	BSCL2	Pyloric stenosis	HP:0002021
26580	BSCL2	Intellectual disability, mild	HP:0001256
26580	BSCL2	Abnormality of skin pigmentation	HP:0001000
26580	BSCL2	Spasticity	HP:0001257
26580	BSCL2	Broad foot	HP:0001769
26580	BSCL2	Spastic paraplegia	HP:0001258
26580	BSCL2	Spinal rigidity	HP:0003306
26580	BSCL2	Hyperlordosis	HP:0003307
26580	BSCL2	Delayed speech and language development	HP:0000750
26580	BSCL2	Hirsutism	HP:0001007
26580	BSCL2	Hyperactivity	HP:0000752
26580	BSCL2	Accelerated skeletal maturation	HP:0005616
26580	BSCL2	Mental deterioration	HP:0001268
26580	BSCL2	Atrial fibrillation	HP:0005110
26580	BSCL2	Congenital onset	HP:0003577
26580	BSCL2	Dysmenorrhea	HP:0100607
2006	ELN	Hypercalcemia	HP:0003072
2006	ELN	Umbilical hernia	HP:0001537
2006	ELN	Cataract	HP:0000518
2006	ELN	Autosomal dominant inheritance	HP:0000006
2006	ELN	Recurrent urinary tract infections	HP:0000010
2006	ELN	Abnormality iris morphology	HP:0000525
2006	ELN	Bladder diverticulum	HP:0000015
2006	ELN	Tracheoesophageal fistula	HP:0002575
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	Nevus flammeus	HP:0001052
2006	ELN	Hyperacusis	HP:0010780
2006	ELN	Cryptorchidism	HP:0000028
2006	ELN	Hypoplasia of penis	HP:0008736
2006	ELN	Myopia	HP:0000545
2006	ELN	Flat cornea	HP:0007720
2006	ELN	Impaired visuospatial constructive cognition	HP:0010794
2006	ELN	Left ventricular dysfunction	HP:0005162
2006	ELN	Hypogonadotrophic hypogonadism	HP:0000044
2006	ELN	Redundant skin	HP:0001582
2006	ELN	Abnormal circulating lipid concentration	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	Cholelithiasis	HP:0001081
2006	ELN	Hemoptysis	HP:0002105
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	Scoliosis	HP:0002650
2006	ELN	Subarachnoid hemorrhage	HP:0002138
2006	ELN	Ischemic stroke	HP:0002140
2006	ELN	Gait imbalance	HP:0002141
2006	ELN	Ventricular septal defect	HP:0001629
2006	ELN	Proteinuria	HP:0000093
2006	ELN	Atrial septal defect	HP:0001631
2006	ELN	Mitral valve prolapse	HP:0001634
2006	ELN	Tall stature	HP:0000098
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	Blue irides	HP:0000635
2006	ELN	Aortic regurgitation	HP:0001659
2006	ELN	Short nose	HP:0003196
2006	ELN	Pelvic kidney	HP:0000125
2006	ELN	Myopathy	HP:0003198
2006	ELN	Prenatal maternal abnormality	HP:0002686
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	Adducted thumb	HP:0001181
2006	ELN	Recurrent respiratory infections	HP:0002205
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 kinase	HP:0003236
2006	ELN	Premature graying of hair	HP:0002216
2006	ELN	Feeding difficulties in infancy	HP:0008872
2006	ELN	Abnormality of dental enamel	HP:0000682
2006	ELN	Dental malocclusion	HP:0000689
2006	ELN	Microdontia	HP:0000691
2006	ELN	Thick lower lip vermilion	HP:0000179
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	Abnormal fingernail morphology	HP:0001231
2006	ELN	Abnormal endocardium morphology	HP:0004306
2006	ELN	Obsessive-compulsive behavior	HP:0000722
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	Spina bifida occulta	HP:0003298
2006	ELN	Short stature	HP:0004322
2006	ELN	Anxiety	HP:0000739
2006	ELN	Pes planus	HP:0001763
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	Food intolerance	HP:0012537
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	Arnold-Chiari malformation	HP:0002308
2006	ELN	Death in early adulthood	HP:0100613
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	Nephrolithiasis	HP:0000787
2006	ELN	Narrow face	HP:0000275
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	Hallux valgus	HP:0001822
2006	ELN	Dysgraphia	HP:0010526
2006	ELN	Epicanthus	HP:0000286
2006	ELN	Dysmetria	HP:0001310
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	High hypermetropia	HP:0008499
2006	ELN	Pointed chin	HP:0000307
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	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	Down-sloping shoulders	HP:0200021
2006	ELN	Peripheral arterial stenosis	HP:0004950
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	Glucose intolerance	HP:0001952
2006	ELN	Abnormality of the diencephalon	HP:0010662
2006	ELN	Dural ectasia	HP:0100775
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	Soft skin	HP:0000977
2006	ELN	Mucoid extracellular matrix accumulation	HP:0200146
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
149461	CLDN19	Hypermagnesiuria	HP:0012608
149461	CLDN19	Umbilical hernia	HP:0001537
149461	CLDN19	Myopia	HP:0000545
149461	CLDN19	Amelogenesis imperfecta	HP:0000705
149461	CLDN19	Astigmatism	HP:0000483
149461	CLDN19	Hypomagnesemia	HP:0002917
149461	CLDN19	Strabismus	HP:0000486
149461	CLDN19	Hypercalciuria	HP:0002150
149461	CLDN19	Autosomal recessive inheritance	HP:0000007
149461	CLDN19	Recurrent urinary tract infections	HP:0000010
149461	CLDN19	Chronic kidney disease	HP:0012622
149461	CLDN19	Nephropathy	HP:0000112
149461	CLDN19	Nephrolithiasis	HP:0000787
149461	CLDN19	Abnormal calcium-phosphate regulating hormone level	HP:0100530
149461	CLDN19	Hematuria	HP:0000790
149461	CLDN19	Inguinal hernia	HP:0000023
149461	CLDN19	Abnormality of retinal pigmentation	HP:0007703
149461	CLDN19	Chorioretinal coloboma	HP:0000567
149461	CLDN19	Nephrocalcinosis	HP:0000121
149461	CLDN19	Macular coloboma	HP:0001116
149461	CLDN19	Renal calcium wasting	HP:0012637
149461	CLDN19	Rod-cone dystrophy	HP:0000510
149461	CLDN19	Nystagmus	HP:0000639
149461	CLDN19	Renal magnesium wasting	HP:0005567
26585	GREM1	Adenocarcinoma of the colon	HP:0040276
26585	GREM1	Thyroid carcinoma	HP:0002890
26585	GREM1	Adenomatous colonic polyposis	HP:0005227
26585	GREM1	Colorectal polyposis	HP:0200063
2009	EML1	Macrocephaly	HP:0000256
2009	EML1	Seizures	HP:0001250
2009	EML1	Autosomal recessive inheritance	HP:0000007
2009	EML1	Ventriculomegaly	HP:0002119
2009	EML1	Spasticity	HP:0001257
2009	EML1	Gray matter heterotopia	HP:0002282
2009	EML1	Polymicrogyria	HP:0002126
2009	EML1	Hydrocephalus	HP:0000238
2009	EML1	Global developmental delay	HP:0001263
2009	EML1	Intellectual disability, severe	HP:0010864
2009	EML1	Sleep disturbance	HP:0002360
2009	EML1	Agenesis of corpus callosum	HP:0001274
2009	EML1	Abnormality of the skeletal system	HP:0000924
2010	EMD	Ichthyosis	HP:0008064
2010	EMD	Limb-girdle muscular dystrophy	HP:0006785
2010	EMD	EMG: myopathic abnormalities	HP:0003458
2010	EMD	Vocal cord paralysis	HP:0001605
2010	EMD	Increased LDL cholesterol concentration	HP:0003141
2010	EMD	Childhood onset	HP:0011463
2010	EMD	X-linked recessive inheritance	HP:0001419
2010	EMD	Atrioventricular block	HP:0001678
2010	EMD	Abnormality of the neck	HP:0000464
2010	EMD	Sprengel anomaly	HP:0000912
2010	EMD	Waddling gait	HP:0002515
2010	EMD	Toe walking	HP:0040083
2010	EMD	Short neck	HP:0000470
2010	EMD	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0004631
2010	EMD	Scoliosis	HP:0002650
2010	EMD	Back pain	HP:0003418
2010	EMD	Atrial arrhythmia	HP:0001692
2010	EMD	Slow progression	HP:0003677
2010	EMD	Rimmed vacuoles	HP:0003805
2010	EMD	Type 1 muscle fiber atrophy	HP:0011807
2010	EMD	Proximal muscle weakness in lower limbs	HP:0008994
2010	EMD	Ventricular escape rhythm	HP:0005155
2010	EMD	Reduced tendon reflexes	HP:0001315
2010	EMD	Elevated serum creatine kinase	HP:0003236
2010	EMD	Muscular hypotonia	HP:0001252
2010	EMD	Juvenile onset	HP:0003621
2010	EMD	Proximal muscle weakness in upper limbs	HP:0008997
2010	EMD	Lipodystrophy	HP:0009125
2010	EMD	Absent muscle fiber emerin	HP:0030117
2010	EMD	Hypertrophic cardiomyopathy	HP:0001639
2010	EMD	Obesity	HP:0001513
2010	EMD	Spinal rigidity	HP:0003306
2010	EMD	Achilles tendon contracture	HP:0001771
2010	EMD	Elbow flexion contracture	HP:0002987
2010	EMD	Hypertriglyceridemia	HP:0002155
2010	EMD	Scapular winging	HP:0003691
2010	EMD	Hyperlordosis	HP:0003307
2010	EMD	Joint stiffness	HP:0001387
2010	EMD	Sudden cardiac death	HP:0001645
2010	EMD	Proximal upper limb amyotrophy	HP:0008948
2010	EMD	Myotonia	HP:0002486
2010	EMD	Kyphosis	HP:0002808
2010	EMD	Supraventricular arrhythmia	HP:0005115
2010	EMD	Respiratory insufficiency due to muscle weakness	HP:0002747
2010	EMD	Ptosis	HP:0000508
2010	EMD	Proximal lower limb amyotrophy	HP:0008956
2010	EMD	Myopathy	HP:0003198
2010	EMD	Pectus excavatum	HP:0000767
157657	C8ORF37	Abnormal electroretinogram	HP:0000512
157657	C8ORF37	Skeletal muscle atrophy	HP:0003202
157657	C8ORF37	Multicystic kidney dysplasia	HP:0000003
157657	C8ORF37	Cataract	HP:0000518
157657	C8ORF37	Autosomal dominant inheritance	HP:0000006
157657	C8ORF37	Hypogonadism	HP:0000135
157657	C8ORF37	Autosomal recessive inheritance	HP:0000007
157657	C8ORF37	Optic atrophy	HP:0000648
157657	C8ORF37	Postaxial hand polydactyly	HP:0001162
157657	C8ORF37	X-linked recessive inheritance	HP:0001419
157657	C8ORF37	Progressive visual loss	HP:0000529
157657	C8ORF37	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0030483
157657	C8ORF37	Hypoplasia of the ovary	HP:0008724
157657	C8ORF37	Conductive hearing impairment	HP:0000405
157657	C8ORF37	Nyctalopia	HP:0000662
157657	C8ORF37	Abnormality of retinal pigmentation	HP:0007703
157657	C8ORF37	Sensorineural hearing impairment	HP:0000407
157657	C8ORF37	Hypodontia	HP:0000668
157657	C8ORF37	Cryptorchidism	HP:0000028
157657	C8ORF37	Optic disc pallor	HP:0000543
157657	C8ORF37	Hypoplasia of penis	HP:0008736
157657	C8ORF37	Myopia	HP:0000545
157657	C8ORF37	Postaxial polydactyly	HP:0100259
157657	C8ORF37	Abnormal testis morphology	HP:0000035
157657	C8ORF37	Attenuation of retinal blood vessels	HP:0007843
157657	C8ORF37	Cone/cone-rod dystrophy	HP:0000548
157657	C8ORF37	Color vision defect	HP:0000551
157657	C8ORF37	Hyperautofluorescent macular lesion	HP:0030631
157657	C8ORF37	Prominent nasal bridge	HP:0000426
157657	C8ORF37	Wide nasal bridge	HP:0000431
157657	C8ORF37	Keratoconus	HP:0000563
157657	C8ORF37	Hypertension	HP:0000822
157657	C8ORF37	Generalized hirsutism	HP:0002230
157657	C8ORF37	Bone spicule pigmentation of the retina	HP:0007737
157657	C8ORF37	Beaten bronze macular sheen	HP:0025147
157657	C8ORF37	Hyperreflexia	HP:0001347
157657	C8ORF37	Pigmentary retinopathy	HP:0000580
157657	C8ORF37	Hypoplasia of the fovea	HP:0007750
157657	C8ORF37	Hyperinsulinemia	HP:0000842
157657	C8ORF37	Anteverted nares	HP:0000463
157657	C8ORF37	Retinal atrophy	HP:0001105
157657	C8ORF37	Horseshoe kidney	HP:0000085
157657	C8ORF37	Finger syndactyly	HP:0006101
157657	C8ORF37	Short neck	HP:0000470
157657	C8ORF37	Ophthalmoplegia	HP:0000602
157657	C8ORF37	Type II diabetes mellitus	HP:0005978
157657	C8ORF37	Atypical scarring of skin	HP:0000987
157657	C8ORF37	Elevated hepatic transaminase	HP:0002910
157657	C8ORF37	Intellectual disability	HP:0001249
157657	C8ORF37	Short stature	HP:0004322
157657	C8ORF37	Nephrotic syndrome	HP:0000100
157657	C8ORF37	Photophobia	HP:0000613
157657	C8ORF37	Obesity	HP:0001513
157657	C8ORF37	Macular atrophy	HP:0007401
157657	C8ORF37	Blindness	HP:0000618
157657	C8ORF37	Constriction of peripheral visual field	HP:0001133
157657	C8ORF37	Hearing impairment	HP:0000365
157657	C8ORF37	Abnormal retinal vascular morphology	HP:0008046
157657	C8ORF37	Delayed speech and language development	HP:0000750
157657	C8ORF37	Downslanted palpebral fissures	HP:0000494
157657	C8ORF37	Reduced visual acuity	HP:0007663
157657	C8ORF37	Low-set, posteriorly rotated ears	HP:0000368
157657	C8ORF37	Hepatic fibrosis	HP:0001395
157657	C8ORF37	Glaucoma	HP:0000501
157657	C8ORF37	Abnormality of fundus pigmentation	HP:0031605
157657	C8ORF37	Neurological speech impairment	HP:0002167
157657	C8ORF37	Visual impairment	HP:0000505
157657	C8ORF37	Retinal thinning	HP:0030329
157657	C8ORF37	Progressive night blindness	HP:0007675
157657	C8ORF37	Medial flaring of the eyebrow	HP:0010747
157657	C8ORF37	Rod-cone dystrophy	HP:0000510
157657	C8ORF37	Nystagmus	HP:0000639
51164	DCTN4	Hepatomegaly	HP:0002240
51164	DCTN4	Immunodeficiency	HP:0002721
51164	DCTN4	Biliary cirrhosis	HP:0002613
51164	DCTN4	Malabsorption	HP:0002024
51164	DCTN4	Decreased antibody level in blood	HP:0004313
51164	DCTN4	Exocrine pancreatic insufficiency	HP:0001738
51164	DCTN4	Recurrent respiratory infections	HP:0002205
51164	DCTN4	Pulmonary fibrosis	HP:0002206
2013	EMP2	Podocyte foot process effacement	HP:0031266
2013	EMP2	Minimal change glomerulonephritis	HP:0012579
2013	EMP2	Autosomal recessive inheritance	HP:0000007
2013	EMP2	Steroid-resistant nephrotic syndrome	HP:0012588
10205	MPZL2	Progressive sensorineural hearing impairment	HP:0000408
83932	SPRTN	Skeletal muscle atrophy	HP:0003202
83932	SPRTN	Short stature	HP:0004322
83932	SPRTN	Pes planus	HP:0001763
83932	SPRTN	Clinodactyly	HP:0030084
83932	SPRTN	Triangular face	HP:0000325
83932	SPRTN	Decreased body weight	HP:0004325
83932	SPRTN	Lipodystrophy	HP:0009125
83932	SPRTN	Autosomal recessive inheritance	HP:0000007
83932	SPRTN	Prominent nasal bridge	HP:0000426
83932	SPRTN	Elbow flexion contracture	HP:0002987
83932	SPRTN	Posterior subcapsular cataract	HP:0007787
83932	SPRTN	Down-sloping shoulders	HP:0200021
83932	SPRTN	Frontal bossing	HP:0002007
83932	SPRTN	Hepatocellular carcinoma	HP:0001402
83932	SPRTN	Thoracic kyphoscoliosis	HP:0005659
83932	SPRTN	Micrognathia	HP:0000347
83932	SPRTN	Delayed skeletal maturation	HP:0002750
83932	SPRTN	Bulbous nose	HP:0000414
83932	SPRTN	Pectus excavatum	HP:0000767
51168	MYO15A	Profound sensorineural hearing impairment	HP:0011476
51168	MYO15A	Autosomal recessive inheritance	HP:0000007
10210	TOPORS	Abnormal electroretinogram	HP:0000512
10210	TOPORS	Hyperreflexia	HP:0001347
10210	TOPORS	Cataract	HP:0000518
10210	TOPORS	Autosomal dominant inheritance	HP:0000006
10210	TOPORS	Hypogonadism	HP:0000135
10210	TOPORS	Optic atrophy	HP:0000648
10210	TOPORS	Hyperinsulinemia	HP:0000842
10210	TOPORS	Anteverted nares	HP:0000463
10210	TOPORS	Conductive hearing impairment	HP:0000405
10210	TOPORS	Sensorineural hearing impairment	HP:0000407
10210	TOPORS	Abnormality of retinal pigmentation	HP:0007703
10210	TOPORS	Ophthalmoplegia	HP:0000602
10210	TOPORS	Type II diabetes mellitus	HP:0005978
10210	TOPORS	Atypical scarring of skin	HP:0000987
10210	TOPORS	Hypoplasia of penis	HP:0008736
10210	TOPORS	Intellectual disability	HP:0001249
10210	TOPORS	Abnormal testis morphology	HP:0000035
10210	TOPORS	Visual field defect	HP:0001123
10210	TOPORS	Attenuation of retinal blood vessels	HP:0007843
10210	TOPORS	Photophobia	HP:0000613
10210	TOPORS	Obesity	HP:0001513
10210	TOPORS	Blindness	HP:0000618
10210	TOPORS	Retinal pigment epithelial atrophy	HP:0007722
10210	TOPORS	Abnormal retinal vascular morphology	HP:0008046
10210	TOPORS	Wide nasal bridge	HP:0000431
10210	TOPORS	Keratoconus	HP:0000563
10210	TOPORS	Glaucoma	HP:0000501
10210	TOPORS	Progressive night blindness	HP:0007675
10210	TOPORS	Rod-cone dystrophy	HP:0000510
10210	TOPORS	Nystagmus	HP:0000639
2018	EMX2	Cerebral cortical atrophy	HP:0002120
2018	EMX2	Agenesis of corpus callosum	HP:0001274
2018	EMX2	Schizencephaly	HP:0010636
83938	LRMDA	Photophobia	HP:0000613
83938	LRMDA	Autosomal recessive inheritance	HP:0000007
83938	LRMDA	Albinism	HP:0001022
83938	LRMDA	Nystagmus	HP:0000639
2022	ENG	Portal hypertension	HP:0001409
2022	ENG	Encephalomalacia	HP:0040197
2022	ENG	Amblyopia	HP:0000646
2022	ENG	Autosomal dominant inheritance	HP:0000006
2022	ENG	Conjunctival telangiectasia	HP:0000524
2022	ENG	Hematochezia	HP:0002573
2022	ENG	Microcytic anemia	HP:0001935
2022	ENG	Heterogeneous	HP:0001425
2022	ENG	Nephrolithiasis	HP:0000787
2022	ENG	Palate telangiectasia	HP:0002707
2022	ENG	Pulmonary arteriovenous malformation	HP:0006548
2022	ENG	Transient ischemic attack	HP:0002326
2022	ENG	Hematuria	HP:0000790
2022	ENG	Visceral angiomatosis	HP:0100761
2022	ENG	Cavernous hemangioma	HP:0001048
2022	ENG	Migraine	HP:0002076
2022	ENG	Pulmonary embolism	HP:0002204
2022	ENG	Right-to-left shunt	HP:0001694
2022	ENG	Dilatation of mesenteric artery	HP:0011934
2022	ENG	Epistaxis	HP:0000421
2022	ENG	Pulmonary arterial hypertension	HP:0002092
2022	ENG	Gastrointestinal telangiectasia	HP:0002604
2022	ENG	Dyspnea	HP:0002094
2022	ENG	Hepatic arteriovenous malformation	HP:0006574
2022	ENG	Peripheral arteriovenous fistula	HP:0100784
2022	ENG	Nasal mucosa telangiectasia	HP:0000434
2022	ENG	Hypertension	HP:0000822
2022	ENG	Spontaneous, recurrent epistaxis	HP:0004406
2022	ENG	Aortic root aneurysm	HP:0002616
2022	ENG	Cholelithiasis	HP:0001081
2022	ENG	Hemoptysis	HP:0002105
2022	ENG	Cholecystitis	HP:0001082
2022	ENG	High-output congestive heart failure	HP:0001722
2022	ENG	Abnormality of brainstem morphology	HP:0002363
2022	ENG	Atherosclerosis	HP:0002621
2022	ENG	Cerebral hemorrhage	HP:0001342
2022	ENG	Gastrointestinal hemorrhage	HP:0002239
2022	ENG	Cyanosis	HP:0000961
2022	ENG	Clubbing	HP:0001217
2022	ENG	Venous varicosities of celiac and mesenteric vessels	HP:0002626
2022	ENG	Gastrointestinal arteriovenous malformation	HP:0002629
2022	ENG	Venous thrombosis	HP:0004936
2022	ENG	Hematemesis	HP:0002248
2022	ENG	Melena	HP:0002249
2022	ENG	Intestinal polyposis	HP:0200008
2022	ENG	Nail bed telangiectasia	HP:0001232
2022	ENG	Arteriovenous fistulas of celiac and mesenteric vessels	HP:0002642
2022	ENG	Retinal telangiectasia	HP:0007763
2022	ENG	Oculomotor nerve palsy	HP:0012246
2022	ENG	Lip telangiectasia	HP:0000214
2022	ENG	Spinal arteriovenous malformation	HP:0002390
2022	ENG	Aortic dissection	HP:0002647
2022	ENG	Gastrointestinal angiodysplasia	HP:0000471
2022	ENG	Subarachnoid hemorrhage	HP:0002138
2022	ENG	Fingerpad telangiectases	HP:0006107
2022	ENG	Ischemic stroke	HP:0002140
2022	ENG	Brain abscess	HP:0030049
2022	ENG	Seizures	HP:0001250
2022	ENG	Visual field defect	HP:0001123
2022	ENG	Congestive heart failure	HP:0001635
2022	ENG	Tongue telangiectasia	HP:0000227
2022	ENG	Abnormal circle of Willis morphology	HP:0012518
2022	ENG	Telangiectasia of the skin	HP:0100585
2022	ENG	Cerebral arteriovenous malformation	HP:0002408
2022	ENG	Polycythemia	HP:0001901
2022	ENG	Anemia	HP:0001903
2022	ENG	Cirrhosis	HP:0001394
2022	ENG	Cerebral berry aneurysm	HP:0007029
2022	ENG	Hemiparesis	HP:0001269
2022	ENG	Hepatic failure	HP:0001399
2022	ENG	Esophageal varix	HP:0002040
2022	ENG	Dilatation of celiac artery	HP:0100858
2022	ENG	Spontaneous hematomas	HP:0007420
10216	PRG4	Arthropathy	HP:0003040
10216	PRG4	Synovial hypertrophy	HP:0005186
10216	PRG4	Constrictive pericarditis	HP:0002563
10216	PRG4	Flattened metacarpal heads	HP:0011909
10216	PRG4	Autosomal recessive inheritance	HP:0000007
10216	PRG4	Congenital finger flexion contractures	HP:0005879
10216	PRG4	Wrist flexion contracture	HP:0001239
10216	PRG4	Arthritis	HP:0001369
10216	PRG4	Flattened metatarsal heads	HP:0005194
10216	PRG4	Coxa vara	HP:0002812
10216	PRG4	Generalized morning stiffness	HP:0005197
2027	ENO3	Elevated serum creatine kinase	HP:0003236
2027	ENO3	Autosomal recessive inheritance	HP:0000007
2027	ENO3	Exercise intolerance	HP:0003546
2027	ENO3	Increased muscle glycogen content	HP:0009051
2027	ENO3	Adult onset	HP:0003581
2027	ENO3	Myalgia	HP:0003326
26608	TBL2	Hypercalcemia	HP:0003072
26608	TBL2	Umbilical hernia	HP:0001537
26608	TBL2	Arnold-Chiari malformation	HP:0002308
26608	TBL2	Death in early adulthood	HP:0100613
26608	TBL2	Cataract	HP:0000518
26608	TBL2	Hypoplastic toenails	HP:0001800
26608	TBL2	Recurrent urinary tract infections	HP:0000010
26608	TBL2	Arthralgia	HP:0002829
26608	TBL2	Bladder diverticulum	HP:0000015
26608	TBL2	Tracheoesophageal fistula	HP:0002575
26608	TBL2	Stroke	HP:0001297
26608	TBL2	Nephrolithiasis	HP:0000787
26608	TBL2	Narrow face	HP:0000275
26608	TBL2	Corneal opacity	HP:0007957
26608	TBL2	Inguinal hernia	HP:0000023
26608	TBL2	Abnormality of extrapyramidal motor function	HP:0002071
26608	TBL2	Coarse facial features	HP:0000280
26608	TBL2	Functional abnormality of male internal genitalia	HP:0000025
26608	TBL2	Nevus flammeus	HP:0001052
26608	TBL2	Hyperacusis	HP:0010780
26608	TBL2	Cryptorchidism	HP:0000028
26608	TBL2	Supravalvular aortic stenosis	HP:0004381
26608	TBL2	Hallux valgus	HP:0001822
26608	TBL2	Dysgraphia	HP:0010526
26608	TBL2	Epicanthus	HP:0000286
26608	TBL2	Dysmetria	HP:0001310
26608	TBL2	Hypoplasia of penis	HP:0008736
26608	TBL2	Myopia	HP:0000545
26608	TBL2	Flat cornea	HP:0007720
26608	TBL2	Genu valgum	HP:0002857
26608	TBL2	Hypogonadotrophic hypogonadism	HP:0000044
26608	TBL2	Redundant skin	HP:0001582
26608	TBL2	Peptic ulcer	HP:0004398
26608	TBL2	Abnormal circulating lipid concentration	HP:0003119
26608	TBL2	High hypermetropia	HP:0008499
26608	TBL2	Pointed chin	HP:0000307
26608	TBL2	Abnormal dermatoglyphics	HP:0007477
26608	TBL2	Hypothyroidism	HP:0000821
26608	TBL2	Open bite	HP:0010807
26608	TBL2	Cholelithiasis	HP:0001081
26608	TBL2	Tremor	HP:0001337
26608	TBL2	Precocious puberty	HP:0000826
26608	TBL2	Joint hyperflexibility	HP:0005692
26608	TBL2	Overriding aorta	HP:0002623
26608	TBL2	Hyperreflexia	HP:0001347
26608	TBL2	Blepharophimosis	HP:0000581
26608	TBL2	Prematurely aged appearance	HP:0007495
26608	TBL2	Cerebral cortical atrophy	HP:0002120
26608	TBL2	Developmental regression	HP:0002376
26608	TBL2	Hoarse voice	HP:0001609
26608	TBL2	Renal duplication	HP:0000075
26608	TBL2	Vesicoureteral reflux	HP:0000076
26608	TBL2	Elfin facies	HP:0004428
26608	TBL2	Cerebral ischemia	HP:0002637
26608	TBL2	Broad forehead	HP:0000337
26608	TBL2	Nystagmus-induced head nodding	HP:0001361
26608	TBL2	Dysphonia	HP:0001618
26608	TBL2	Renal insufficiency	HP:0000083
26608	TBL2	Abnormality of pelvic girdle bone morphology	HP:0002644
26608	TBL2	Down-sloping shoulders	HP:0200021
26608	TBL2	Long philtrum	HP:0000343
26608	TBL2	Renal hypoplasia	HP:0000089
26608	TBL2	Scoliosis	HP:0002650
26608	TBL2	Type II diabetes mellitus	HP:0005978
26608	TBL2	Micrognathia	HP:0000347
26608	TBL2	High forehead	HP:0000348
26608	TBL2	Gait imbalance	HP:0002141
26608	TBL2	Ventricular septal defect	HP:0001629
26608	TBL2	Proteinuria	HP:0000093
26608	TBL2	Vertebral segmentation defect	HP:0003422
26608	TBL2	Atrial septal defect	HP:0001631
26608	TBL2	Mitral valve prolapse	HP:0001634
26608	TBL2	Congestive heart failure	HP:0001635
26608	TBL2	Tetralogy of Fallot	HP:0001636
26608	TBL2	Hypercalciuria	HP:0002150
26608	TBL2	Hypertrophic cardiomyopathy	HP:0001639
26608	TBL2	Cardiomegaly	HP:0001640
26608	TBL2	Peripheral pulmonary artery stenosis	HP:0004969
26608	TBL2	Attention deficit hyperactivity disorder	HP:0007018
26608	TBL2	Pulmonic stenosis	HP:0001642
26608	TBL2	Patent ductus arteriosus	HP:0001643
26608	TBL2	Joint stiffness	HP:0001387
26608	TBL2	Joint laxity	HP:0001388
26608	TBL2	Sudden cardiac death	HP:0001645
26608	TBL2	Bicuspid aortic valve	HP:0001647
26608	TBL2	Low-set, posteriorly rotated ears	HP:0000368
26608	TBL2	Retinal arteriolar tortuosity	HP:0001136
26608	TBL2	Clinodactyly of the 5th finger	HP:0004209
26608	TBL2	Posterior embryotoxon	HP:0000627
26608	TBL2	Mitral regurgitation	HP:0001653
26608	TBL2	Aplasia/Hypoplasia of the iris	HP:0008053
26608	TBL2	Lacrimation abnormality	HP:0000632
26608	TBL2	Nephrocalcinosis	HP:0000121
26608	TBL2	Myocardial infarction	HP:0001658
26608	TBL2	Blue irides	HP:0000635
26608	TBL2	Short nose	HP:0003196
26608	TBL2	Pelvic kidney	HP:0000125
26608	TBL2	Myopathy	HP:0003198
26608	TBL2	Increased nuchal translucency	HP:0010880
26608	TBL2	Chronic otitis media	HP:0000389
26608	TBL2	Phonophobia	HP:0002183
26608	TBL2	Macrotia	HP:0000400
26608	TBL2	Polycystic ovaries	HP:0000147
26608	TBL2	Sensorineural hearing impairment	HP:0000407
26608	TBL2	Wide mouth	HP:0000154
26608	TBL2	Protruding ear	HP:0000411
26608	TBL2	Hypodontia	HP:0000668
26608	TBL2	Adducted thumb	HP:0001181
26608	TBL2	Recurrent respiratory infections	HP:0002205
26608	TBL2	Macroglossia	HP:0000158
26608	TBL2	Carious teeth	HP:0000670
26608	TBL2	Radioulnar synostosis	HP:0002974
26608	TBL2	Elevated serum creatine kinase	HP:0003236
26608	TBL2	Abnormality of the diencephalon	HP:0010662
26608	TBL2	Abnormality of dental enamel	HP:0000682
26608	TBL2	Osteopenia	HP:0000938
26608	TBL2	Osteoporosis	HP:0000939
26608	TBL2	Hypoplasia of the zygomatic bone	HP:0010669
26608	TBL2	Wide nasal bridge	HP:0000431
26608	TBL2	Insomnia	HP:0100785
26608	TBL2	Tubulointerstitial abnormality	HP:0001969
26608	TBL2	Dental malocclusion	HP:0000689
26608	TBL2	Microdontia	HP:0000691
26608	TBL2	Thick lower lip vermilion	HP:0000179
26608	TBL2	Patellar dislocation	HP:0002999
26608	TBL2	Overfriendliness	HP:0100025
26608	TBL2	Periorbital edema	HP:0100539
26608	TBL2	Multiple renal cysts	HP:0005562
26608	TBL2	Delayed skeletal maturation	HP:0002750
26608	TBL2	Sacral dimple	HP:0000960
26608	TBL2	Abnormality of the gastric mucosa	HP:0004295
26608	TBL2	Atrophy/Degeneration involving the corticospinal tracts	HP:0007372
26608	TBL2	Depressivity	HP:0000716
26608	TBL2	Colonic diverticula	HP:0002253
26608	TBL2	Autism	HP:0000717
26608	TBL2	Abnormal fingernail morphology	HP:0001231
26608	TBL2	Abnormality of the neck	HP:0000464
26608	TBL2	Renovascular hypertension	HP:0100817
26608	TBL2	Abnormal endocardium morphology	HP:0004306
26608	TBL2	Obsessive-compulsive behavior	HP:0000722
26608	TBL2	Gingival overgrowth	HP:0000212
26608	TBL2	Abnormality of the ankles	HP:0003028
26608	TBL2	Urethral stenosis	HP:0008661
26608	TBL2	Abnormal carotid artery morphology	HP:0005344
26608	TBL2	Nausea and vomiting	HP:0002017
26608	TBL2	Intellectual disability	HP:0001249
26608	TBL2	Spina bifida occulta	HP:0003298
26608	TBL2	Short stature	HP:0004322
26608	TBL2	Constipation	HP:0002019
26608	TBL2	Anxiety	HP:0000739
26608	TBL2	Pes planus	HP:0001763
26608	TBL2	Gastroesophageal reflux	HP:0002020
26608	TBL2	Muscular hypotonia	HP:0001252
26608	TBL2	Megalocornea	HP:0000485
26608	TBL2	Strabismus	HP:0000486
26608	TBL2	Malabsorption	HP:0002024
26608	TBL2	Everted lower lip vermilion	HP:0000232
26608	TBL2	Obesity	HP:0001513
26608	TBL2	Spasticity	HP:0001257
26608	TBL2	Hyperlordosis	HP:0003307
26608	TBL2	Abdominal pain	HP:0002027
26608	TBL2	Dysarthria	HP:0001260
26608	TBL2	Abnormal form of the vertebral bodies	HP:0003312
26608	TBL2	Rectal prolapse	HP:0002035
26608	TBL2	Glaucoma	HP:0000501
26608	TBL2	Kyphosis	HP:0002808
26608	TBL2	Aortic arch aneurysm	HP:0005113
26608	TBL2	Visual impairment	HP:0000505
26608	TBL2	Increased bone mineral density	HP:0011001
26608	TBL2	Failure to thrive in infancy	HP:0001531
26608	TBL2	Microcephaly	HP:0000252
26608	TBL2	Pectus excavatum	HP:0000767
2033	EP300	Wide anterior fontanel	HP:0000260
2033	EP300	Cataract	HP:0000518
2033	EP300	Autosomal dominant inheritance	HP:0000006
2033	EP300	Intestinal malrotation	HP:0002566
2033	EP300	Radial deviation of thumb terminal phalanx	HP:0005895
2033	EP300	Proptosis	HP:0000520
2033	EP300	Generalized hypotonia	HP:0001290
2033	EP300	Dislocated radial head	HP:0003083
2033	EP300	Unsteady gait	HP:0002317
2033	EP300	Delayed cranial suture closure	HP:0000270
2033	EP300	Long eyelashes	HP:0000527
2033	EP300	Facial grimacing	HP:0000273
2033	EP300	High axial triradius	HP:0001042
2033	EP300	Retrognathia	HP:0000278
2033	EP300	Vascular ring	HP:0010775
2033	EP300	Polyhydramnios	HP:0001561
2033	EP300	Abnormality of refraction	HP:0000539
2033	EP300	Cryptorchidism	HP:0000028
2033	EP300	Epicanthus	HP:0000286
2033	EP300	Low hanging columella	HP:0009765
2033	EP300	Low anterior hairline	HP:0000294
2033	EP300	Broad thumb	HP:0011304
2033	EP300	Hypospadias	HP:0000047
2033	EP300	EEG abnormality	HP:0002353
2033	EP300	Shawl scrotum	HP:0000049
2033	EP300	Respiratory distress	HP:0002098
2033	EP300	Hypoplastic iliac wing	HP:0002866
2033	EP300	Flared iliac wings	HP:0002869
2033	EP300	Obstructive sleep apnea	HP:0002870
2033	EP300	Bimanual synkinesia	HP:0001335
2033	EP300	Deviated nasal septum	HP:0004411
2033	EP300	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
2033	EP300	Thick eyebrow	HP:0000574
2033	EP300	Laryngomalacia	HP:0001601
2033	EP300	Poor coordination	HP:0002370
2033	EP300	Keloids	HP:0010562
2033	EP300	Nasolacrimal duct obstruction	HP:0000579
2033	EP300	Hyperreflexia	HP:0001347
2033	EP300	Hypoplasia of the maxilla	HP:0000327
2033	EP300	Broad hallux	HP:0010055
2033	EP300	Premature thelarche	HP:0010314
2033	EP300	Uterine leiomyosarcoma	HP:0002891
2033	EP300	Posterior helix pit	HP:0008523
2033	EP300	Abnormality of the kidney	HP:0000077
2033	EP300	Coloboma	HP:0000589
2033	EP300	Talon cusp	HP:0011087
2033	EP300	Duplication of phalanx of hallux	HP:0010066
2033	EP300	Abnormal number of teeth	HP:0006483
2033	EP300	Transitional cell carcinoma of the bladder	HP:0006740
2033	EP300	Overbite	HP:0011094
2033	EP300	Scoliosis	HP:0002650
2033	EP300	Micrognathia	HP:0000347
2033	EP300	Flexion contracture	HP:0001371
2033	EP300	Ventricular septal defect	HP:0001629
2033	EP300	Atrial septal defect	HP:0001631
2033	EP300	Tethered cord	HP:0002144
2033	EP300	Neoplasm of the stomach	HP:0006753
2033	EP300	Joint hypermobility	HP:0001382
2033	EP300	Impulsivity	HP:0100710
2033	EP300	Patent ductus arteriosus	HP:0001643
2033	EP300	Joint laxity	HP:0001388
2033	EP300	Hearing impairment	HP:0000365
2033	EP300	Avascular necrosis of the capital femoral epiphysis	HP:0005743
2033	EP300	Chorioretinal dystrophy	HP:0001135
2033	EP300	Low-set ears	HP:0000369
2033	EP300	Clinodactyly of the 5th finger	HP:0004209
2033	EP300	Low posterior hairline	HP:0002162
2033	EP300	Leukemia	HP:0001909
2033	EP300	Abnormality of the pinna	HP:0000377
2033	EP300	Syndactyly	HP:0001159
2033	EP300	Phonophobia	HP:0002183
2033	EP300	Bifid uterus	HP:0000136
2033	EP300	Parietal foramina	HP:0002697
2033	EP300	Large foramen magnum	HP:0002700
2033	EP300	Heterogeneous	HP:0001425
2033	EP300	Delayed gross motor development	HP:0002194
2033	EP300	Somatic mutation	HP:0001428
2033	EP300	Hypoplasia of dental enamel	HP:0006297
2033	EP300	Arrhythmia	HP:0011675
2033	EP300	Carious teeth	HP:0000670
2033	EP300	Narrow mouth	HP:0000160
2033	EP300	Sporadic	HP:0003745
2033	EP300	Truncal obesity	HP:0001956
2033	EP300	Dental crowding	HP:0000678
2033	EP300	Feeding difficulties in infancy	HP:0008872
2033	EP300	Plantar crease between first and second toes	HP:0008107
2033	EP300	Wide nasal bridge	HP:0000431
2033	EP300	Dental malocclusion	HP:0000689
2033	EP300	Patellar dislocation	HP:0002999
2033	EP300	Capillary hemangioma	HP:0005306
2033	EP300	Single transverse palmar crease	HP:0000954
2033	EP300	Frontal upsweep of hair	HP:0002236
2033	EP300	Prominent fingertip pads	HP:0001212
2033	EP300	Convex nasal ridge	HP:0000444
2033	EP300	Cafe-au-lait spot	HP:0000957
2033	EP300	Narrow palate	HP:0000189
2033	EP300	Delayed skeletal maturation	HP:0002750
2033	EP300	Prominent nose	HP:0000448
2033	EP300	Postnatal growth retardation	HP:0008897
2033	EP300	Duane anomaly	HP:0009921
2033	EP300	Polydactyly	HP:0010442
2033	EP300	Aganglionic megacolon	HP:0002251
2033	EP300	Autism	HP:0000717
2033	EP300	Renal cell carcinoma	HP:0005584
2033	EP300	Frontal bossing	HP:0002007
2033	EP300	Autistic behavior	HP:0000729
2033	EP300	High palate	HP:0000218
2033	EP300	Stereotypy	HP:0000733
2033	EP300	Short attention span	HP:0000736
2033	EP300	Abnormal cornea morphology	HP:0000481
2033	EP300	Intellectual disability	HP:0001249
2033	EP300	Seizures	HP:0001250
2033	EP300	Spina bifida occulta	HP:0003298
2033	EP300	Short stature	HP:0004322
2033	EP300	Constipation	HP:0002019
2033	EP300	Pes planus	HP:0001763
2033	EP300	Recurrent upper respiratory tract infections	HP:0002788
2033	EP300	Muscular hypotonia	HP:0001252
2033	EP300	Failure to thrive	HP:0001508
2033	EP300	Self-mutilation	HP:0000742
2033	EP300	Intellectual disability, mild	HP:0001256
2033	EP300	Deeply set eye	HP:0000490
2033	EP300	Downslanted palpebral fissures	HP:0000494
2033	EP300	Delayed speech and language development	HP:0000750
2033	EP300	Hirsutism	HP:0001007
2033	EP300	Global developmental delay	HP:0001263
2033	EP300	Hyperactivity	HP:0000752
2033	EP300	Papillary cystadenoma of the epididymis	HP:0009715
2033	EP300	Agoraphobia	HP:0000756
2033	EP300	Variable expressivity	HP:0003828
2033	EP300	Glaucoma	HP:0000501
2033	EP300	Abnormality of the cervical spine	HP:0003319
2033	EP300	Highly arched eyebrow	HP:0002553
2033	EP300	Congenital onset	HP:0003577
2033	EP300	Agenesis of corpus callosum	HP:0001274
2033	EP300	Preeclampsia	HP:0100602
2033	EP300	Ptosis	HP:0000508
2033	EP300	Microcephaly	HP:0000252
2033	EP300	Pectus excavatum	HP:0000767
10225	CD96	Omphalocele	HP:0001539
10225	CD96	Multicystic kidney dysplasia	HP:0000003
10225	CD96	Clinodactyly	HP:0030084
10225	CD96	Autosomal recessive inheritance	HP:0000007
10225	CD96	Congenital diaphragmatic hernia	HP:0000776
10225	CD96	Hand polydactyly	HP:0001161
10225	CD96	Postaxial hand polydactyly	HP:0001162
10225	CD96	Generalized hypotonia	HP:0001290
10225	CD96	Dislocated radial head	HP:0003083
10225	CD96	Hip dislocation	HP:0002827
10225	CD96	Psychomotor retardation	HP:0025356
10225	CD96	Thick anterior alveolar ridges	HP:0009100
10225	CD96	Polyhydramnios	HP:0001561
10225	CD96	Abnormality of the anus	HP:0004378
10225	CD96	Wide mouth	HP:0000154
10225	CD96	Cryptorchidism	HP:0000028
10225	CD96	Epicanthus	HP:0000286
10225	CD96	Depressed nasal bridge	HP:0005280
10225	CD96	Renal cortical cysts	HP:0000803
10225	CD96	Postaxial foot polydactyly	HP:0001830
10225	CD96	Micromelia	HP:0002983
10225	CD96	Bilateral single transverse palmar creases	HP:0007598
10225	CD96	Redundant skin	HP:0001582
10225	CD96	Cleft palate	HP:0000175
10225	CD96	Wide nasal bridge	HP:0000431
10225	CD96	Midline facial capillary hemangioma	HP:0007601
10225	CD96	Delayed skeletal maturation	HP:0002750
10225	CD96	Accessory oral frenulum	HP:0000191
10225	CD96	Smooth philtrum	HP:0000319
10225	CD96	Sacral dimple	HP:0000960
10225	CD96	Hepatomegaly	HP:0002240
10225	CD96	Short metacarpal	HP:0010049
10225	CD96	Upslanted palpebral fissure	HP:0000582
10225	CD96	Biparietal narrowing	HP:0004422
10225	CD96	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
10225	CD96	Cutis laxa	HP:0000973
10225	CD96	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
10225	CD96	Anteverted nares	HP:0000463
10225	CD96	Gingival overgrowth	HP:0000212
10225	CD96	Horseshoe kidney	HP:0000085
10225	CD96	Short neck	HP:0000470
10225	CD96	Long philtrum	HP:0000343
10225	CD96	Abnormality of cardiovascular system morphology	HP:0030680
10225	CD96	Clitoral hypertrophy	HP:0008665
10225	CD96	Female pseudohermaphroditism	HP:0010458
10225	CD96	High palate	HP:0000218
10225	CD96	Scoliosis	HP:0002650
10225	CD96	Talipes	HP:0001883
10225	CD96	Micrognathia	HP:0000347
10225	CD96	Ventricular septal defect	HP:0001629
10225	CD96	Abnormal hair pattern	HP:0010720
10225	CD96	Limitation of joint mobility	HP:0001376
10225	CD96	Intellectual disability	HP:0001249
10225	CD96	Abnormality of immune system physiology	HP:0010978
10225	CD96	Short stature	HP:0004322
10225	CD96	Seizures	HP:0001250
10225	CD96	Limb undergrowth	HP:0009826
10225	CD96	Constipation	HP:0002019
10225	CD96	Muscular hypotonia	HP:0001252
10225	CD96	Failure to thrive	HP:0001508
10225	CD96	Strabismus	HP:0000486
10225	CD96	Renal hypoplasia/aplasia	HP:0008678
10225	CD96	Posteriorly rotated ears	HP:0000358
10225	CD96	Thin vermilion border	HP:0000233
10225	CD96	Toe syndactyly	HP:0001770
10225	CD96	Patent ductus arteriosus	HP:0001643
10225	CD96	Global developmental delay	HP:0001263
10225	CD96	Low-set, posteriorly rotated ears	HP:0000368
10225	CD96	Clinodactyly of the 5th finger	HP:0004209
10225	CD96	Hypoplasia of the ear cartilage	HP:0100720
10225	CD96	Low-set ears	HP:0000369
10225	CD96	Death in infancy	HP:0001522
10225	CD96	Trigonocephaly	HP:0000243
10225	CD96	Fused sternal ossification centers	HP:0006643
10225	CD96	Ulnar deviation of finger	HP:0009465
10225	CD96	Radial deviation of finger	HP:0009466
10225	CD96	Failure to thrive in infancy	HP:0001531
10225	CD96	Microcephaly	HP:0000252
10225	CD96	Short nose	HP:0003196
10225	CD96	Pectus excavatum	HP:0000767
51185	CRBN	Intellectual disability, severe	HP:0010864
51185	CRBN	Seizures	HP:0001250
51185	CRBN	Autosomal recessive inheritance	HP:0000007
51185	CRBN	Intellectual disability, mild	HP:0001256
51185	CRBN	Attention deficit hyperactivity disorder	HP:0007018
51185	CRBN	Global developmental delay	HP:0001263
26610	ELP4	Autosomal dominant inheritance	HP:0000006
2034	EPAS1	Autosomal dominant inheritance	HP:0000006
2034	EPAS1	Increased hematocrit	HP:0001899
2034	EPAS1	Increased hemoglobin	HP:0001900
157680	VPS13B	Preauricular skin tag	HP:0000384
157680	VPS13B	Autosomal recessive inheritance	HP:0000007
157680	VPS13B	Optic atrophy	HP:0000648
157680	VPS13B	Generalized hypotonia	HP:0001290
157680	VPS13B	Thick hair	HP:0100874
157680	VPS13B	Arachnodactyly	HP:0001166
157680	VPS13B	Long eyelashes	HP:0000527
157680	VPS13B	High, narrow palate	HP:0002705
157680	VPS13B	Nyctalopia	HP:0000662
157680	VPS13B	Decreased fetal movement	HP:0001558
157680	VPS13B	Cubitus valgus	HP:0002967
157680	VPS13B	Abnormality of retinal pigmentation	HP:0007703
157680	VPS13B	Sensorineural hearing impairment	HP:0000407
157680	VPS13B	Cryptorchidism	HP:0000028
157680	VPS13B	Tapered finger	HP:0001182
157680	VPS13B	Myopia	HP:0000545
157680	VPS13B	Thick corpus callosum	HP:0007074
157680	VPS13B	Macrodontia of permanent maxillary central incisor	HP:0000675
157680	VPS13B	Macrodontia	HP:0001572
157680	VPS13B	Low anterior hairline	HP:0000294
157680	VPS13B	Neonatal hypotonia	HP:0001319
157680	VPS13B	Feeding difficulties in infancy	HP:0008872
157680	VPS13B	Facial hypotonia	HP:0000297
157680	VPS13B	Genu valgum	HP:0002857
157680	VPS13B	Cerebellar hypoplasia	HP:0001321
157680	VPS13B	Prominent nasal bridge	HP:0000426
157680	VPS13B	Slender toe	HP:0011308
157680	VPS13B	Hypoplasia of the zygomatic bone	HP:0010669
157680	VPS13B	Aplasia/Hypoplasia of the earlobes	HP:0009906
157680	VPS13B	Delayed puberty	HP:0000823
157680	VPS13B	Aplasia/Hypoplasia of the tongue	HP:0010295
157680	VPS13B	Growth hormone deficiency	HP:0000824
157680	VPS13B	Microphthalmia	HP:0000568
157680	VPS13B	Bone spicule pigmentation of the retina	HP:0007737
157680	VPS13B	Single transverse palmar crease	HP:0000954
157680	VPS13B	Narrow palm	HP:0004283
157680	VPS13B	Convex nasal ridge	HP:0000444
157680	VPS13B	Joint hyperflexibility	HP:0005692
157680	VPS13B	Sandal gap	HP:0001852
157680	VPS13B	Thick eyebrow	HP:0000574
157680	VPS13B	Short metacarpal	HP:0010049
157680	VPS13B	Laryngomalacia	HP:0001601
157680	VPS13B	Open mouth	HP:0000194
157680	VPS13B	Short philtrum	HP:0000322
157680	VPS13B	Hypoplasia of the maxilla	HP:0000327
157680	VPS13B	Abnormality of the hip bone	HP:0003272
157680	VPS13B	Weak cry	HP:0001612
157680	VPS13B	Reduced number of teeth	HP:0009804
157680	VPS13B	Childhood-onset truncal obesity	HP:0008915
157680	VPS13B	Neutropenia	HP:0001875
157680	VPS13B	Gingival overgrowth	HP:0000212
157680	VPS13B	Finger syndactyly	HP:0006101
157680	VPS13B	Leukopenia	HP:0001882
157680	VPS13B	Scoliosis	HP:0002650
157680	VPS13B	Micrognathia	HP:0000347
157680	VPS13B	Ventricular septal defect	HP:0001629
157680	VPS13B	Intellectual disability	HP:0001249
157680	VPS13B	Seizures	HP:0001250
157680	VPS13B	Mitral valve prolapse	HP:0001634
157680	VPS13B	Short stature	HP:0004322
157680	VPS13B	Pes planus	HP:0001763
157680	VPS13B	Iris coloboma	HP:0000612
157680	VPS13B	Muscular hypotonia	HP:0001252
157680	VPS13B	Joint hypermobility	HP:0001382
157680	VPS13B	Strabismus	HP:0000486
157680	VPS13B	Intrauterine growth retardation	HP:0001511
157680	VPS13B	Abnormality of skin pigmentation	HP:0001000
157680	VPS13B	Obesity	HP:0001513
157680	VPS13B	Cat cry	HP:0200046
157680	VPS13B	Small for gestational age	HP:0001518
157680	VPS13B	Downslanted palpebral fissures	HP:0000494
157680	VPS13B	Chorioretinal dystrophy	HP:0001135
157680	VPS13B	Reduced visual acuity	HP:0007663
157680	VPS13B	Global developmental delay	HP:0001263
157680	VPS13B	Bull's eye maculopathy	HP:0011504
157680	VPS13B	Clinodactyly of the 5th finger	HP:0004209
157680	VPS13B	Motor delay	HP:0001270
157680	VPS13B	Short metatarsal	HP:0010743
157680	VPS13B	Neurological speech impairment	HP:0002167
157680	VPS13B	Kyphosis	HP:0002808
157680	VPS13B	Visual impairment	HP:0000505
157680	VPS13B	Lumbar hyperlordosis	HP:0002938
157680	VPS13B	Failure to thrive in infancy	HP:0001531
157680	VPS13B	Microcephaly	HP:0000252
157680	VPS13B	Thoracic scoliosis	HP:0002943
157680	VPS13B	Nystagmus	HP:0000639
157680	VPS13B	Pectus excavatum	HP:0000767
2035	EPB41	Pallor	HP:0000980
2035	EPB41	Hemolytic anemia	HP:0001878
2035	EPB41	Autosomal dominant inheritance	HP:0000006
2035	EPB41	Autosomal recessive inheritance	HP:0000007
2035	EPB41	Jaundice	HP:0000952
2035	EPB41	Elliptocytosis	HP:0004445
2036	EPB41L1	Intellectual disability	HP:0001249
2036	EPB41L1	Autosomal dominant inheritance	HP:0000006
10229	COQ7	Feeding difficulties	HP:0011968
10229	COQ7	Postnatal growth retardation	HP:0008897
10229	COQ7	Muscular hypotonia	HP:0001252
10229	COQ7	Intrauterine growth retardation	HP:0001511
10229	COQ7	Autosomal recessive inheritance	HP:0000007
10229	COQ7	Pulmonary hypoplasia	HP:0002089
10229	COQ7	Generalized hypotonia	HP:0001290
10229	COQ7	Abnormal renal corticomedullary differentiation	HP:0005932
10229	COQ7	Muscle weakness	HP:0001324
10229	COQ7	Hearing impairment	HP:0000365
10229	COQ7	Small for gestational age	HP:0001518
10229	COQ7	Renal dysplasia	HP:0000110
10229	COQ7	Global developmental delay	HP:0001263
10229	COQ7	Respiratory distress	HP:0002098
10229	COQ7	Pain	HP:0012531
10229	COQ7	Motor delay	HP:0001270
10229	COQ7	Hypertension	HP:0000822
10229	COQ7	Polyneuropathy	HP:0001271
10229	COQ7	Peripheral demyelination	HP:0011096
10229	COQ7	Visual impairment	HP:0000505
10229	COQ7	Congenital onset	HP:0003577
10229	COQ7	Oligohydramnios	HP:0001562
10229	COQ7	Flexion contracture	HP:0001371
10229	COQ7	Elevated serum creatinine	HP:0003259
83959	SLC4A11	Corneal opacity	HP:0007957
83959	SLC4A11	Congenital corneal dystrophy	HP:0008005
83959	SLC4A11	Autosomal dominant inheritance	HP:0000006
83959	SLC4A11	Corneal guttata	HP:0012038
83959	SLC4A11	Sensorineural hearing impairment	HP:0000407
83959	SLC4A11	Autosomal recessive inheritance	HP:0000007
83959	SLC4A11	Visual impairment	HP:0000505
83959	SLC4A11	Corneal dystrophy	HP:0001131
83959	SLC4A11	Nystagmus	HP:0000639
83959	SLC4A11	Opacification of the corneal stroma	HP:0007759
83959	SLC4A11	Reduced visual acuity	HP:0007663
2038	EPB42	Hemolytic anemia	HP:0001878
2038	EPB42	Autosomal recessive inheritance	HP:0000007
2038	EPB42	Spherocytosis	HP:0004444
10235	RASGRP2	Prolonged bleeding time	HP:0003010
10235	RASGRP2	Impaired platelet aggregation	HP:0003540
10235	RASGRP2	Epistaxis	HP:0000421
10235	RASGRP2	Autosomal recessive inheritance	HP:0000007
10235	RASGRP2	Infantile onset	HP:0003593
2043	EPHA4	Nausea and vomiting	HP:0002017
2043	EPHA4	Skeletal muscle atrophy	HP:0003202
2043	EPHA4	Muscle spasm	HP:0003394
2043	EPHA4	Anxiety	HP:0000739
2043	EPHA4	Neurodegeneration	HP:0002180
2043	EPHA4	Emotional lability	HP:0000712
2043	EPHA4	Spasticity	HP:0001257
2043	EPHA4	Agitation	HP:0000713
2043	EPHA4	Depressivity	HP:0000716
2043	EPHA4	Paralysis	HP:0003470
2043	EPHA4	Dyspnea	HP:0002094
2043	EPHA4	Laryngospasm	HP:0025425
2043	EPHA4	Fatigable weakness of swallowing muscles	HP:0030195
2043	EPHA4	Pain	HP:0012531
2043	EPHA4	Fatigable weakness of respiratory muscles	HP:0030196
2043	EPHA4	Xerostomia	HP:0000217
2043	EPHA4	Amyotrophic lateral sclerosis	HP:0007354
2043	EPHA4	Fatigue	HP:0012378
2043	EPHA4	Generalized muscle weakness	HP:0003324
2043	EPHA4	Respiratory failure	HP:0002878
51196	PLCE1	Focal segmental glomerulosclerosis	HP:0000097
51196	PLCE1	Hypoalbuminemia	HP:0003073
51196	PLCE1	Nephrotic syndrome	HP:0000100
51196	PLCE1	Childhood onset	HP:0011463
51196	PLCE1	Autosomal recessive inheritance	HP:0000007
51196	PLCE1	Edema	HP:0000969
51196	PLCE1	Progressive	HP:0003676
51196	PLCE1	Proteinuria	HP:0000093
51196	PLCE1	Stage 5 chronic kidney disease	HP:0003774
51196	PLCE1	Diffuse mesangial sclerosis	HP:0001967
51199	NIN	Prominent nose	HP:0000448
51199	NIN	Seizures	HP:0001250
51199	NIN	Clinodactyly	HP:0030084
51199	NIN	Abnormality of the carpal bones	HP:0001191
51199	NIN	Autosomal recessive inheritance	HP:0000007
51199	NIN	Intrauterine growth retardation	HP:0001511
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
378884	NHLRC1	Cutaneous photosensitivity	HP:0000992
378884	NHLRC1	Simple partial occipital seizures	HP:0025121
378884	NHLRC1	Psychosis	HP:0000709
378884	NHLRC1	Generalized tonic-clonic seizures with focal onset	HP:0007334
378884	NHLRC1	Autosomal recessive inheritance	HP:0000007
378884	NHLRC1	Gait disturbance	HP:0001288
378884	NHLRC1	Progressive neurologic deterioration	HP:0002344
378884	NHLRC1	Absence seizure	HP:0002121
378884	NHLRC1	Apraxia	HP:0002186
378884	NHLRC1	Generalized myoclonic seizures	HP:0002123
378884	NHLRC1	Heterogeneous	HP:0001425
378884	NHLRC1	Abnormality of metabolism/homeostasis	HP:0001939
378884	NHLRC1	Dementia	HP:0000726
378884	NHLRC1	Hepatic failure	HP:0001399
378884	NHLRC1	Myoclonus	HP:0001336
378884	NHLRC1	Visual loss	HP:0000572
378884	NHLRC1	Visual auras	HP:0011165
378884	NHLRC1	Rapidly progressive	HP:0003678
378884	NHLRC1	Visual hallucinations	HP:0002367
2050	EPHB4	Pericardial effusion	HP:0001698
2050	EPHB4	Autosomal dominant inheritance	HP:0000006
2050	EPHB4	Lymphedema	HP:0001004
2050	EPHB4	Anemia	HP:0001903
2050	EPHB4	Peripheral arteriovenous fistula	HP:0100784
2050	EPHB4	Telangiectasia	HP:0001009
2050	EPHB4	Abnormality of the cerebral vasculature	HP:0100659
2050	EPHB4	Respiratory distress	HP:0002098
2050	EPHB4	Variable expressivity	HP:0003828
2050	EPHB4	Pulmonary edema	HP:0100598
2050	EPHB4	Dilatation	HP:0002617
2050	EPHB4	Vein of Galen aneurysmal malformation	HP:0030713
2050	EPHB4	Facial edema	HP:0000282
2050	EPHB4	Varicose veins	HP:0002619
2050	EPHB4	Nonimmune hydrops fetalis	HP:0001790
2050	EPHB4	Atrial septal defect	HP:0001631
10243	GPHN	Feeding difficulties	HP:0011968
10243	GPHN	Umbilical hernia	HP:0001537
10243	GPHN	Hyperreflexia	HP:0001347
10243	GPHN	Opisthotonus	HP:0002179
10243	GPHN	Autosomal dominant inheritance	HP:0000006
10243	GPHN	Autosomal recessive inheritance	HP:0000007
10243	GPHN	Hypokinesia	HP:0002375
10243	GPHN	Gait disturbance	HP:0001288
10243	GPHN	Infantile onset	HP:0003593
10243	GPHN	Hip dislocation	HP:0002827
10243	GPHN	Cerebral atrophy	HP:0002059
10243	GPHN	Fasciculations	HP:0002380
10243	GPHN	Polymicrogyria	HP:0002126
10243	GPHN	Hypoplasia of the pons	HP:0012110
10243	GPHN	Nocturnal seizures	HP:0031951
10243	GPHN	Rigidity	HP:0002063
10243	GPHN	Hypouricemia	HP:0003537
10243	GPHN	Aspiration	HP:0002835
10243	GPHN	Spontaneous abortion	HP:0005268
10243	GPHN	Generalized tonic-clonic seizures	HP:0002069
10243	GPHN	Inguinal hernia	HP:0000023
10243	GPHN	Esophagitis	HP:0100633
10243	GPHN	Exaggerated startle response	HP:0002267
10243	GPHN	Increased urinary taurine	HP:0003166
10243	GPHN	Muscle stiffness	HP:0003552
10243	GPHN	Intellectual disability	HP:0001249
10243	GPHN	Seizures	HP:0001250
10243	GPHN	Ataxia	HP:0001251
10243	GPHN	Gastroesophageal reflux	HP:0002020
10243	GPHN	Muscular hypotonia of the trunk	HP:0008936
10243	GPHN	Spasticity	HP:0001257
10243	GPHN	Cerebellar hypoplasia	HP:0001321
10243	GPHN	Joint stiffness	HP:0001387
10243	GPHN	Global developmental delay	HP:0001263
10243	GPHN	Poor eye contact	HP:0000817
10243	GPHN	Molybdenum cofactor deficiency	HP:0003570
10243	GPHN	Hiatus hernia	HP:0002036
10243	GPHN	Poor head control	HP:0002421
10243	GPHN	Frequent falls	HP:0002359
10243	GPHN	Apnea	HP:0002104
10243	GPHN	Myoclonus	HP:0001336
10243	GPHN	Sleep disturbance	HP:0002360
10243	GPHN	Sulfite oxidase deficiency	HP:0003643
10243	GPHN	Hypertonia	HP:0001276
2052	EPHX1	Failure to thrive	HP:0001508
2052	EPHX1	Vitamin K deficiency	HP:0011892
2052	EPHX1	Autosomal recessive inheritance	HP:0000007
2052	EPHX1	Increased serum bile acid concentration	HP:0012202
2052	EPHX1	Steatorrhea	HP:0002570
2052	EPHX1	Rickets	HP:0002748
2052	EPHX1	Pruritus	HP:0000989
51204	TACO1	Decreased liver function	HP:0001410
51204	TACO1	Glycosuria	HP:0003076
51204	TACO1	Autosomal recessive inheritance	HP:0000007
51204	TACO1	Optic atrophy	HP:0000648
51204	TACO1	Generalized hypotonia	HP:0001290
51204	TACO1	Decreased activity of mitochondrial respiratory chain	HP:0008972
51204	TACO1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
51204	TACO1	Heterogeneous	HP:0001425
51204	TACO1	Mitochondrial inheritance	HP:0001427
51204	TACO1	Sensorineural hearing impairment	HP:0000407
51204	TACO1	Progressive cerebellar ataxia	HP:0002073
51204	TACO1	Aminoaciduria	HP:0003355
51204	TACO1	Increased hepatocellular lipid droplets	HP:0006565
51204	TACO1	Hyperphosphaturia	HP:0003109
51204	TACO1	Leukoencephalopathy	HP:0002352
51204	TACO1	Respiratory distress	HP:0002098
51204	TACO1	Dystonia	HP:0001332
51204	TACO1	Apnea	HP:0002104
51204	TACO1	Lactic acidosis	HP:0003128
51204	TACO1	Increased CSF lactate	HP:0002490
51204	TACO1	Exertional dyspnea	HP:0002875
51204	TACO1	Respiratory insufficiency due to muscle weakness	HP:0002747
51204	TACO1	Hepatomegaly	HP:0002240
51204	TACO1	Hyperreflexia	HP:0001347
51204	TACO1	Pigmentary retinopathy	HP:0000580
51204	TACO1	Emotional lability	HP:0000712
51204	TACO1	Renal Fanconi syndrome	HP:0001994
51204	TACO1	Increased intramyocellular lipid droplets	HP:0012240
51204	TACO1	Ophthalmoplegia	HP:0000602
51204	TACO1	Exercise intolerance	HP:0003546
51204	TACO1	Ventricular septal defect	HP:0001629
51204	TACO1	Proteinuria	HP:0000093
51204	TACO1	Intellectual disability	HP:0001249
51204	TACO1	Seizures	HP:0001250
51204	TACO1	Ataxia	HP:0001251
51204	TACO1	Failure to thrive	HP:0001508
51204	TACO1	Muscular hypotonia	HP:0001252
51204	TACO1	Strabismus	HP:0000486
51204	TACO1	Hypertrichosis	HP:0000998
51204	TACO1	Peripheral neuropathy	HP:0009830
51204	TACO1	Increased serum lactate	HP:0002151
51204	TACO1	Hypertrophic cardiomyopathy	HP:0001639
51204	TACO1	Cytochrome C oxidase-negative muscle fibers	HP:0003688
51204	TACO1	Progressive spastic paraplegia	HP:0007020
51204	TACO1	Dysarthria	HP:0001260
51204	TACO1	Hearing impairment	HP:0000365
51204	TACO1	Anemia	HP:0001903
51204	TACO1	Global developmental delay	HP:0001263
51204	TACO1	Leukodystrophy	HP:0002415
51204	TACO1	Intellectual disability, severe	HP:0010864
51204	TACO1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
51204	TACO1	Motor delay	HP:0001270
51204	TACO1	Ptosis	HP:0000508
51204	TACO1	Renal tubular dysfunction	HP:0000124
51204	TACO1	Nystagmus	HP:0000639
51206	GP6	Prolonged bleeding time	HP:0003010
51206	GP6	Bruising susceptibility	HP:0000978
51206	GP6	Variable expressivity	HP:0003828
51206	GP6	Ecchymosis	HP:0031364
51206	GP6	Menorrhagia	HP:0000132
51206	GP6	Epistaxis	HP:0000421
51206	GP6	Autosomal recessive inheritance	HP:0000007
51206	GP6	Infantile onset	HP:0003593
2055	CLN8	Irritability	HP:0000737
2055	CLN8	Intellectual disability	HP:0001249
2055	CLN8	Seizures	HP:0001250
2055	CLN8	Ataxia	HP:0001251
2055	CLN8	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003205
2055	CLN8	Psychosis	HP:0000709
2055	CLN8	Restlessness	HP:0000711
2055	CLN8	Autosomal recessive inheritance	HP:0000007
2055	CLN8	Clumsiness	HP:0002312
2055	CLN8	Developmental regression	HP:0002376
2055	CLN8	Cerebral atrophy	HP:0002059
2055	CLN8	Delayed speech and language development	HP:0000750
2055	CLN8	Focal impaired awareness seizure	HP:0002384
2055	CLN8	EEG abnormality	HP:0002353
2055	CLN8	Progressive visual loss	HP:0000529
2055	CLN8	Mental deterioration	HP:0001268
2055	CLN8	Generalized tonic-clonic seizures	HP:0002069
2055	CLN8	Cerebellar atrophy	HP:0001272
2055	CLN8	Myoclonus	HP:0001336
2055	CLN8	Increased neuronal autofluorescent lipopigment	HP:0002074
2055	CLN8	Slow progression	HP:0003677
2056	EPO	Infantile onset	HP:0003593
2056	EPO	Increased hematocrit	HP:0001899
2056	EPO	Increased hemoglobin	HP:0001900
2056	EPO	Anemia	HP:0001903
2057	EPOR	Epistaxis	HP:0000421
2057	EPOR	Venous thrombosis	HP:0004936
2057	EPOR	Abdominal pain	HP:0002027
2057	EPOR	Headache	HP:0002315
2057	EPOR	Arthralgia	HP:0002829
2057	EPOR	Polycythemia	HP:0001901
2057	EPOR	Vertigo	HP:0002321
2057	EPOR	Thromboembolism	HP:0001907
2057	EPOR	Fatigue	HP:0012378
2057	EPOR	Exertional dyspnea	HP:0002875
2057	EPOR	Pruritus	HP:0000989
2057	EPOR	Abnormal hemoglobin	HP:0011902
2057	EPOR	Cough	HP:0012735
2058	EPRS	Feeding difficulties	HP:0011968
2058	EPRS	Intention tremor	HP:0002080
2058	EPRS	Athetosis	HP:0002305
2058	EPRS	Seizures	HP:0001250
2058	EPRS	Ataxia	HP:0001251
2058	EPRS	Amblyopia	HP:0000646
2058	EPRS	Developmental regression	HP:0002376
2058	EPRS	Optic atrophy	HP:0000648
2058	EPRS	Spasticity	HP:0001257
2058	EPRS	Cerebral atrophy	HP:0002059
2058	EPRS	Inability to walk	HP:0002540
2058	EPRS	Global developmental delay	HP:0001263
2058	EPRS	Leukodystrophy	HP:0002415
2058	EPRS	Progressive visual loss	HP:0000529
2058	EPRS	Dystonia	HP:0001332
2058	EPRS	Cerebellar atrophy	HP:0001272
2058	EPRS	Abnormal pyramidal sign	HP:0007256
2058	EPRS	Hypermetropia	HP:0000540
2058	EPRS	Progressive	HP:0003676
2058	EPRS	Cognitive impairment	HP:0100543
2058	EPRS	Hypoplasia of the corpus callosum	HP:0002079
2058	EPRS	Dysphagia	HP:0002015
2058	EPRS	Nystagmus	HP:0000639
2059	EPS8	Autosomal recessive inheritance	HP:0000007
2059	EPS8	Congenital onset	HP:0003577
2059	EPS8	Profound hearing impairment	HP:0012715
2064	ERBB2	Somatic mutation	HP:0001428
2064	ERBB2	Increased level of L-fucose in urine	HP:0410067
2064	ERBB2	Autosomal dominant inheritance	HP:0000006
2064	ERBB2	Alveolar cell carcinoma	HP:0006519
2064	ERBB2	Autosomal recessive inheritance	HP:0000007
2064	ERBB2	Ependymoma	HP:0002888
2064	ERBB2	Astrocytoma	HP:0009592
2064	ERBB2	Stomach cancer	HP:0012126
2064	ERBB2	Glioblastoma multiforme	HP:0012174
2065	ERBB3	Akinesia	HP:0002304
2065	ERBB3	Skeletal muscle atrophy	HP:0003202
2065	ERBB3	Autosomal recessive inheritance	HP:0000007
2065	ERBB3	Edema	HP:0000969
2065	ERBB3	Dilated cardiomyopathy	HP:0001644
2065	ERBB3	Arthrogryposis multiplex congenita	HP:0002804
2065	ERBB3	Decreased fetal movement	HP:0001558
2065	ERBB3	Polyhydramnios	HP:0001561
2065	ERBB3	Micrognathia	HP:0000347
2065	ERBB3	High myopia	HP:0011003
2065	ERBB3	Degenerative vitreoretinopathy	HP:0007964
2065	ERBB3	Ventricular septal defect	HP:0001629
2065	ERBB3	Hydronephrosis	HP:0000126
2065	ERBB3	Respiratory failure	HP:0002878
51218	GLRX5	Hepatomegaly	HP:0002240
51218	GLRX5	Feeding difficulties	HP:0011968
51218	GLRX5	Spastic ataxia	HP:0002497
51218	GLRX5	Hyperreflexia	HP:0001347
51218	GLRX5	Autosomal recessive inheritance	HP:0000007
51218	GLRX5	Optic atrophy	HP:0000648
51218	GLRX5	Developmental regression	HP:0002376
51218	GLRX5	Gait disturbance	HP:0001288
51218	GLRX5	Anisocytosis	HP:0011273
51218	GLRX5	Generalized hypotonia	HP:0001290
51218	GLRX5	Unsteady gait	HP:0002317
51218	GLRX5	Progressive spasticity	HP:0002191
51218	GLRX5	Splenomegaly	HP:0001744
51218	GLRX5	Spinal cord lesion	HP:0100561
51218	GLRX5	Increased serum ferritin	HP:0003281
51218	GLRX5	Hepatosplenomegaly	HP:0001433
51218	GLRX5	Type II diabetes mellitus	HP:0005978
51218	GLRX5	Conjugated hyperbilirubinemia	HP:0002908
51218	GLRX5	Elevated hepatic transaminase	HP:0002910
51218	GLRX5	Babinski sign	HP:0003487
51218	GLRX5	Hypoplasia of the corpus callosum	HP:0002079
51218	GLRX5	Spastic dysarthria	HP:0002464
51218	GLRX5	Short attention span	HP:0000736
51218	GLRX5	Nonketotic hyperglycinemia	HP:0008288
51218	GLRX5	Irritability	HP:0000737
51218	GLRX5	Seizures	HP:0001250
51218	GLRX5	Ataxia	HP:0001251
51218	GLRX5	Erythroid hyperplasia	HP:0012132
51218	GLRX5	Strabismus	HP:0000486
51218	GLRX5	Hypochromia	HP:0032231
51218	GLRX5	Decreased mean corpuscular volume	HP:0025066
51218	GLRX5	Hyperglycinemia	HP:0002154
51218	GLRX5	Dysarthria	HP:0001260
51218	GLRX5	Anemia	HP:0001903
51218	GLRX5	Leukodystrophy	HP:0002415
51218	GLRX5	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
51218	GLRX5	Spastic diplegia	HP:0001264
51218	GLRX5	Left ventricular hypertrophy	HP:0001712
51218	GLRX5	Elevated hepatic iron concentration	HP:0012465
51218	GLRX5	Loss of ability to walk in early childhood	HP:0008945
51218	GLRX5	Cirrhosis	HP:0001394
51218	GLRX5	Jaundice	HP:0000952
51218	GLRX5	Myoclonus	HP:0001336
51218	GLRX5	Visual impairment	HP:0000505
51218	GLRX5	Nystagmus	HP:0000639
83987	CCDC8	Short thorax	HP:0010306
83987	CCDC8	Triangular face	HP:0000325
83987	CCDC8	Hypoplastic pelvis	HP:0008839
83987	CCDC8	Autosomal recessive inheritance	HP:0000007
83987	CCDC8	Dolichocephaly	HP:0000268
83987	CCDC8	Hypoplasia of the ulna	HP:0003022
83987	CCDC8	Anteverted nares	HP:0000463
83987	CCDC8	Decreased fertility	HP:0000144
83987	CCDC8	Enlarged thorax	HP:0100625
83987	CCDC8	Malar flattening	HP:0000272
83987	CCDC8	Broad forehead	HP:0000337
83987	CCDC8	Abnormality of the elbow	HP:0009811
83987	CCDC8	Short neck	HP:0000470
83987	CCDC8	Frontal bossing	HP:0002007
83987	CCDC8	Long philtrum	HP:0000343
83987	CCDC8	Midface retrusion	HP:0011800
83987	CCDC8	Scoliosis	HP:0002650
83987	CCDC8	Increased vertebral height	HP:0004570
83987	CCDC8	Protruding ear	HP:0000411
83987	CCDC8	Slender long bone	HP:0003100
83987	CCDC8	Congenital hip dislocation	HP:0001374
83987	CCDC8	Bulbous nose	HP:0000414
83987	CCDC8	Short stature	HP:0004322
83987	CCDC8	Hypoplastic pubic bone	HP:0003173
83987	CCDC8	Hypoplastic ischia	HP:0003175
83987	CCDC8	Intrauterine growth retardation	HP:0001511
83987	CCDC8	Micromelia	HP:0002983
83987	CCDC8	Everted lower lip vermilion	HP:0000232
83987	CCDC8	Hip dysplasia	HP:0001385
83987	CCDC8	Abnormality of dental enamel	HP:0000682
83987	CCDC8	Hyperlordosis	HP:0003307
83987	CCDC8	Scapular winging	HP:0003691
83987	CCDC8	Delayed eruption of teeth	HP:0000684
83987	CCDC8	Rocker bottom foot	HP:0001838
83987	CCDC8	Small for gestational age	HP:0001518
83987	CCDC8	Hypospadias	HP:0000047
83987	CCDC8	Abnormality of the metaphysis	HP:0000944
83987	CCDC8	Clinodactyly of the 5th finger	HP:0004209
83987	CCDC8	Abnormality of the cerebral vasculature	HP:0100659
83987	CCDC8	Pointed chin	HP:0000307
83987	CCDC8	Thin ribs	HP:0000883
83987	CCDC8	Kyphosis	HP:0002808
83987	CCDC8	Horizontal ribs	HP:0000888
83987	CCDC8	Joint hyperflexibility	HP:0005692
83987	CCDC8	Thick eyebrow	HP:0000574
83987	CCDC8	Delayed skeletal maturation	HP:0002750
2066	ERBB4	Nausea and vomiting	HP:0002017
2066	ERBB4	Skeletal muscle atrophy	HP:0003202
2066	ERBB4	Muscle spasm	HP:0003394
2066	ERBB4	Anxiety	HP:0000739
2066	ERBB4	Neurodegeneration	HP:0002180
2066	ERBB4	Autosomal dominant inheritance	HP:0000006
2066	ERBB4	Emotional lability	HP:0000712
2066	ERBB4	Spasticity	HP:0001257
2066	ERBB4	Agitation	HP:0000713
2066	ERBB4	Depressivity	HP:0000716
2066	ERBB4	Loss of ability to walk	HP:0006957
2066	ERBB4	Paralysis	HP:0003470
2066	ERBB4	Dyspnea	HP:0002094
2066	ERBB4	Laryngospasm	HP:0025425
2066	ERBB4	Fatigable weakness of swallowing muscles	HP:0030195
2066	ERBB4	Pain	HP:0012531
2066	ERBB4	Fatigable weakness of respiratory muscles	HP:0030196
2066	ERBB4	Xerostomia	HP:0000217
2066	ERBB4	Amyotrophic lateral sclerosis	HP:0007354
2066	ERBB4	Fatigue	HP:0012378
2066	ERBB4	Respiratory insufficiency due to muscle weakness	HP:0002747
2066	ERBB4	Generalized muscle weakness	HP:0003324
2066	ERBB4	Adult onset	HP:0003581
2066	ERBB4	Respiratory failure	HP:0002878
2067	ERCC1	Cataract	HP:0000518
2067	ERCC1	Hypogonadism	HP:0000135
2067	ERCC1	Autosomal recessive inheritance	HP:0000007
2067	ERCC1	Optic atrophy	HP:0000648
2067	ERCC1	Camptodactyly of finger	HP:0100490
2067	ERCC1	Hip dislocation	HP:0002827
2067	ERCC1	Dislocated radial head	HP:0003083
2067	ERCC1	Abnormality of retinal pigmentation	HP:0007703
2067	ERCC1	Sensorineural hearing impairment	HP:0000407
2067	ERCC1	Simplified gyral pattern	HP:0009879
2067	ERCC1	Slender long bone	HP:0003100
2067	ERCC1	Adducted thumb	HP:0001181
2067	ERCC1	Reduced tendon reflexes	HP:0001315
2067	ERCC1	Feeding difficulties in infancy	HP:0008872
2067	ERCC1	Cerebellar hypoplasia	HP:0001321
2067	ERCC1	Prominent nasal bridge	HP:0000426
2067	ERCC1	Rocker bottom foot	HP:0001838
2067	ERCC1	Wide nasal bridge	HP:0000431
2067	ERCC1	EEG abnormality	HP:0002353
2067	ERCC1	Microphthalmia	HP:0000568
2067	ERCC1	Kyphoscoliosis	HP:0002751
2067	ERCC1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2067	ERCC1	Short philtrum	HP:0000322
2067	ERCC1	Hyperreflexia	HP:0001347
2067	ERCC1	Blepharophimosis	HP:0000581
2067	ERCC1	Flexion contracture of toe	HP:0005830
2067	ERCC1	Flared metaphysis	HP:0003015
2067	ERCC1	Cerebral cortical atrophy	HP:0002120
2067	ERCC1	Polymicrogyria	HP:0002126
2067	ERCC1	Severe global developmental delay	HP:0011344
2067	ERCC1	Bilateral microphthalmos	HP:0007633
2067	ERCC1	Cerebral calcification	HP:0002514
2067	ERCC1	Premature closure of fontanelles	HP:0005458
2067	ERCC1	Short neck	HP:0000470
2067	ERCC1	Micrognathia	HP:0000347
2067	ERCC1	Talipes	HP:0001883
2067	ERCC1	Cutaneous photosensitivity	HP:0000992
2067	ERCC1	Abnormality of immune system physiology	HP:0010978
2067	ERCC1	Seizures	HP:0001250
2067	ERCC1	Short stature	HP:0004322
2067	ERCC1	Muscular hypotonia	HP:0001252
2067	ERCC1	Peripheral neuropathy	HP:0009830
2067	ERCC1	Intrauterine growth retardation	HP:0001511
2067	ERCC1	Everted lower lip vermilion	HP:0000232
2067	ERCC1	Deeply set eye	HP:0000490
2067	ERCC1	Joint stiffness	HP:0001387
2067	ERCC1	Prominent metopic ridge	HP:0005487
2067	ERCC1	Global developmental delay	HP:0001263
2067	ERCC1	Low-set, posteriorly rotated ears	HP:0000368
2067	ERCC1	Abnormal nasal morphology	HP:0005105
2067	ERCC1	Death in infancy	HP:0001522
2067	ERCC1	Arthrogryposis multiplex congenita	HP:0002804
2067	ERCC1	Variable expressivity	HP:0003828
2067	ERCC1	Visual impairment	HP:0000505
2067	ERCC1	Congenital onset	HP:0003577
2067	ERCC1	Failure to thrive in infancy	HP:0001531
2067	ERCC1	Microcephaly	HP:0000252
2067	ERCC1	Hypertonia	HP:0001276
2067	ERCC1	Nystagmus	HP:0000639
2068	ERCC2	Small nail	HP:0001792
2068	ERCC2	Urticaria	HP:0001025
2068	ERCC2	Poikiloderma	HP:0001029
2068	ERCC2	Cataract	HP:0000518
2068	ERCC2	Autosomal recessive inheritance	HP:0000007
2068	ERCC2	Developmental cataract	HP:0000519
2068	ERCC2	Defective DNA repair after ultraviolet radiation damage	HP:0003079
2068	ERCC2	Confusion	HP:0001289
2068	ERCC2	Hypermelanotic macule	HP:0001034
2068	ERCC2	Conjunctival telangiectasia	HP:0000524
2068	ERCC2	Arthralgia	HP:0002829
2068	ERCC2	Abnormality of the face	HP:0000271
2068	ERCC2	Fragile nails	HP:0001808
2068	ERCC2	Retrognathia	HP:0000278
2068	ERCC2	Abnormality of retinal pigmentation	HP:0007703
2068	ERCC2	Abnormality of extrapyramidal motor function	HP:0002071
2068	ERCC2	Aminoaciduria	HP:0003355
2068	ERCC2	Ankyloblepharon	HP:0009755
2068	ERCC2	Cryptorchidism	HP:0000028
2068	ERCC2	Hypopigmented skin patches	HP:0001053
2068	ERCC2	Decreased testicular size	HP:0008734
2068	ERCC2	Erythema	HP:0010783
2068	ERCC2	Reduced tendon reflexes	HP:0001315
2068	ERCC2	Pterygium	HP:0001059
2068	ERCC2	Squamous cell carcinoma	HP:0002860
2068	ERCC2	Melanoma	HP:0002861
2068	ERCC2	Rocker bottom foot	HP:0001838
2068	ERCC2	Scrotal hypoplasia	HP:0000046
2068	ERCC2	EEG abnormality	HP:0002353
2068	ERCC2	Asthma	HP:0002099
2068	ERCC2	Micropenis	HP:0000054
2068	ERCC2	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
2068	ERCC2	Microphthalmia	HP:0000568
2068	ERCC2	Alopecia	HP:0001596
2068	ERCC2	Prematurely aged appearance	HP:0007495
2068	ERCC2	Cerebral cortical atrophy	HP:0002120
2068	ERCC2	Developmental regression	HP:0002376
2068	ERCC2	Keratoconjunctivitis sicca	HP:0001097
2068	ERCC2	Arteriosclerosis	HP:0002634
2068	ERCC2	Opacification of the corneal stroma	HP:0007759
2068	ERCC2	Severe global developmental delay	HP:0011344
2068	ERCC2	Squamous cell carcinoma of the skin	HP:0006739
2068	ERCC2	Fatigue	HP:0012378
2068	ERCC2	Micrognathia	HP:0000347
2068	ERCC2	Talipes	HP:0001883
2068	ERCC2	Flexion contracture	HP:0001371
2068	ERCC2	Intestinal obstruction	HP:0005214
2068	ERCC2	Lack of subcutaneous fatty tissue	HP:0007519
2068	ERCC2	Large beaked nose	HP:0003683
2068	ERCC2	Photophobia	HP:0000613
2068	ERCC2	Peripheral neuropathy	HP:0009830
2068	ERCC2	Joint stiffness	HP:0001387
2068	ERCC2	Hearing impairment	HP:0000365
2068	ERCC2	Entropion	HP:0000621
2068	ERCC2	Basal cell carcinoma	HP:0002671
2068	ERCC2	Prominent metopic ridge	HP:0005487
2068	ERCC2	Nystagmus	HP:0000639
2068	ERCC2	Sparse hair	HP:0008070
2068	ERCC2	Hypogonadism	HP:0000135
2068	ERCC2	Optic atrophy	HP:0000648
2068	ERCC2	Diplopia	HP:0000651
2068	ERCC2	Camptodactyly of finger	HP:0100490
2068	ERCC2	Craniofacial hyperostosis	HP:0004493
2068	ERCC2	Ectropion	HP:0000656
2068	ERCC2	Sensorineural hearing impairment	HP:0000407
2068	ERCC2	Flat nasal alae	HP:0010649
2068	ERCC2	Fever	HP:0001945
2068	ERCC2	Protruding ear	HP:0000411
2068	ERCC2	Trichorrhexis nodosa	HP:0009886
2068	ERCC2	Recurrent infections	HP:0002719
2068	ERCC2	Numerous pigmented freckles	HP:0007587
2068	ERCC2	Abnormality of the dentition	HP:0000164
2068	ERCC2	Fine hair	HP:0002213
2068	ERCC2	Feeding difficulties in infancy	HP:0008872
2068	ERCC2	Neoplasm of the eye	HP:0100012
2068	ERCC2	Wide nasal bridge	HP:0000431
2068	ERCC2	Dry skin	HP:0000958
2068	ERCC2	Delayed skeletal maturation	HP:0002750
2068	ERCC2	Cognitive impairment	HP:0100543
2068	ERCC2	Kyphoscoliosis	HP:0002751
2068	ERCC2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2068	ERCC2	Hyperkeratosis	HP:0000962
2068	ERCC2	Thin skin	HP:0000963
2068	ERCC2	Demyelinating peripheral neuropathy	HP:0007108
2068	ERCC2	Papilloma	HP:0012740
2068	ERCC2	Freckling	HP:0001480
2068	ERCC2	Cerebral calcification	HP:0002514
2068	ERCC2	Nail dystrophy	HP:0008404
2068	ERCC2	Short neck	HP:0000470
2068	ERCC2	Decreased circulating IgG level	HP:0004315
2068	ERCC2	Skin rash	HP:0000988
2068	ERCC2	Abnormality of hair texture	HP:0010719
2068	ERCC2	Cutaneous photosensitivity	HP:0000992
2068	ERCC2	Intellectual disability	HP:0001249
2068	ERCC2	Short stature	HP:0004322
2068	ERCC2	Abnormality of immune system physiology	HP:0010978
2068	ERCC2	Seizures	HP:0001250
2068	ERCC2	Microcornea	HP:0000482
2068	ERCC2	Ataxia	HP:0001251
2068	ERCC2	Melanocytic nevus	HP:0000995
2068	ERCC2	Muscular hypotonia	HP:0001252
2068	ERCC2	Failure to thrive	HP:0001508
2068	ERCC2	Cachexia	HP:0004326
2068	ERCC2	Strabismus	HP:0000486
2068	ERCC2	Intrauterine growth retardation	HP:0001511
2068	ERCC2	Intellectual disability, progressive	HP:0006887
2068	ERCC2	Retinopathy	HP:0000488
2068	ERCC2	Everted lower lip vermilion	HP:0000232
2068	ERCC2	Malabsorption	HP:0002024
2068	ERCC2	Telangiectasia of the skin	HP:0100585
2068	ERCC2	Corneal neovascularization	HP:0011496
2068	ERCC2	Spasticity	HP:0001257
2068	ERCC2	Deeply set eye	HP:0000490
2068	ERCC2	Death in childhood	HP:0003819
2068	ERCC2	Keratitis	HP:0000491
2068	ERCC2	Dysarthria	HP:0001260
2068	ERCC2	Chronic diarrhea	HP:0002028
2068	ERCC2	Hydrocephalus	HP:0000238
2068	ERCC2	Dermal atrophy	HP:0004334
2068	ERCC2	Small for gestational age	HP:0001518
2068	ERCC2	Delayed speech and language development	HP:0000750
2068	ERCC2	Global developmental delay	HP:0001263
2068	ERCC2	Abnormality of amino acid metabolism	HP:0004337
2068	ERCC2	Abnormal nasal morphology	HP:0005105
2068	ERCC2	Telangiectasia	HP:0001009
2068	ERCC2	Hyporeflexia	HP:0001265
2068	ERCC2	Death in infancy	HP:0001522
2068	ERCC2	Blepharitis	HP:0000498
2068	ERCC2	Choreoathetosis	HP:0001266
2068	ERCC2	Arthrogryposis multiplex congenita	HP:0002804
2068	ERCC2	Mental deterioration	HP:0001268
2068	ERCC2	Visual impairment	HP:0000505
2068	ERCC2	Erythroderma	HP:0001019
2068	ERCC2	Brittle hair	HP:0002299
2068	ERCC2	Microcephaly	HP:0000252
2068	ERCC2	Hypertonia	HP:0001276
2068	ERCC2	Abnormality of the thorax	HP:0000765
2068	ERCC2	Conjunctivitis	HP:0000509
10262	SF3B4	Preauricular skin tag	HP:0000384
10262	SF3B4	Hypoplasia of first ribs	HP:0006657
10262	SF3B4	Aplasia/Hypoplasia of the thumb	HP:0009601
10262	SF3B4	Urticaria	HP:0001025
10262	SF3B4	Abnormality of the uterus	HP:0000130
10262	SF3B4	Clinodactyly	HP:0030084
10262	SF3B4	Absent radius	HP:0003974
10262	SF3B4	Autosomal dominant inheritance	HP:0000006
10262	SF3B4	Gastroschisis	HP:0001543
10262	SF3B4	Hip dislocation	HP:0002827
10262	SF3B4	Lower eyelid coloboma	HP:0000652
10262	SF3B4	Malar flattening	HP:0000272
10262	SF3B4	Sprengel anomaly	HP:0000912
10262	SF3B4	Conductive hearing impairment	HP:0000405
10262	SF3B4	Retrognathia	HP:0000278
10262	SF3B4	Midface retrusion	HP:0011800
10262	SF3B4	Wide mouth	HP:0000154
10262	SF3B4	Hand oligodactyly	HP:0001180
10262	SF3B4	Atresia of the external auditory canal	HP:0000413
10262	SF3B4	Hallux valgus	HP:0001822
10262	SF3B4	Radioulnar synostosis	HP:0002974
10262	SF3B4	Short toe	HP:0001831
10262	SF3B4	Hypoplasia of the radius	HP:0002984
10262	SF3B4	Prominent nasal bridge	HP:0000426
10262	SF3B4	Laryngeal hypoplasia	HP:0008749
10262	SF3B4	Bicornuate uterus	HP:0000813
10262	SF3B4	Respiratory insufficiency	HP:0002093
10262	SF3B4	Hypoplasia of the zygomatic bone	HP:0010669
10262	SF3B4	Cleft palate	HP:0000175
10262	SF3B4	Triphalangeal thumb	HP:0001199
10262	SF3B4	Absent thumb	HP:0009777
10262	SF3B4	Microretrognathia	HP:0000308
10262	SF3B4	Overlapping toe	HP:0001845
10262	SF3B4	Foot oligodactyly	HP:0001849
10262	SF3B4	Broad hallux	HP:0010055
10262	SF3B4	Hypoplasia of the maxilla	HP:0000327
10262	SF3B4	Aganglionic megacolon	HP:0002251
10262	SF3B4	Cleft upper lip	HP:0000204
10262	SF3B4	Polymicrogyria	HP:0002126
10262	SF3B4	Trismus	HP:0000211
10262	SF3B4	Abnormality of pelvic girdle bone morphology	HP:0002644
10262	SF3B4	Finger syndactyly	HP:0006101
10262	SF3B4	Premature birth	HP:0001622
10262	SF3B4	Abnormality of cardiovascular system morphology	HP:0030680
10262	SF3B4	Scoliosis	HP:0002650
10262	SF3B4	Micrognathia	HP:0000347
10262	SF3B4	Arrhinencephaly	HP:0002139
10262	SF3B4	Velopharyngeal insufficiency	HP:0000220
10262	SF3B4	Skeletal dysplasia	HP:0002652
10262	SF3B4	Ventricular septal defect	HP:0001629
10262	SF3B4	Fibular hypoplasia	HP:0003038
10262	SF3B4	Aplasia/Hypoplasia of the ulna	HP:0006495
10262	SF3B4	Sparse lower eyelashes	HP:0007776
10262	SF3B4	Limited elbow extension	HP:0001377
10262	SF3B4	Short stature	HP:0004322
10262	SF3B4	Talipes equinovarus	HP:0001762
10262	SF3B4	Tetralogy of Fallot	HP:0001636
10262	SF3B4	Hypoplasia of the epiglottis	HP:0005349
10262	SF3B4	Aplasia/Hypoplasia of the radius	HP:0006501
10262	SF3B4	Phocomelia	HP:0009829
10262	SF3B4	Posteriorly rotated ears	HP:0000358
10262	SF3B4	Renal hypoplasia/aplasia	HP:0008678
10262	SF3B4	Intrauterine growth retardation	HP:0001511
10262	SF3B4	Microtia	HP:0008551
10262	SF3B4	Aplasia/Hypoplasia of the eyebrow	HP:0100840
10262	SF3B4	Aqueductal stenosis	HP:0002410
10262	SF3B4	Toe syndactyly	HP:0001770
10262	SF3B4	Patent ductus arteriosus	HP:0001643
10262	SF3B4	Joint stiffness	HP:0001387
10262	SF3B4	Hearing impairment	HP:0000365
10262	SF3B4	Delayed speech and language development	HP:0000750
10262	SF3B4	Hydrocephalus	HP:0000238
10262	SF3B4	Downslanted palpebral fissures	HP:0000494
10262	SF3B4	Non-midline cleft lip	HP:0100335
10262	SF3B4	Abnormal form of the vertebral bodies	HP:0003312
10262	SF3B4	Low-set, posteriorly rotated ears	HP:0000368
10262	SF3B4	Low-set ears	HP:0000369
10262	SF3B4	Abnormal nasal morphology	HP:0005105
10262	SF3B4	Variable expressivity	HP:0003828
10262	SF3B4	Abnormality of the cervical spine	HP:0003319
10262	SF3B4	Radial deviation of finger	HP:0009466
10262	SF3B4	Unilateral renal agenesis	HP:0000122
10262	SF3B4	Microcephaly	HP:0000252
10262	SF3B4	Ptosis	HP:0000508
10262	SF3B4	Abnormality of the lower limb	HP:0002814
2070	EYA4	Congestive heart failure	HP:0001635
2070	EYA4	Sudden death	HP:0001699
2070	EYA4	Autosomal dominant inheritance	HP:0000006
2070	EYA4	Sensorineural hearing impairment	HP:0000407
2070	EYA4	Abnormal cardiac ventricular function	HP:0030872
2070	EYA4	Left ventricular dysfunction	HP:0005162
2070	EYA4	Dilated cardiomyopathy	HP:0001644
2070	EYA4	Recurrent infections of the middle ear	HP:0040268
2070	EYA4	Sudden cardiac death	HP:0001645
2070	EYA4	Hearing impairment	HP:0000365
2071	ERCC3	Urticaria	HP:0001025
2071	ERCC3	Poikiloderma	HP:0001029
2071	ERCC3	Cataract	HP:0000518
2071	ERCC3	Autosomal recessive inheritance	HP:0000007
2071	ERCC3	Hypogonadism	HP:0000135
2071	ERCC3	Optic atrophy	HP:0000648
2071	ERCC3	Abnormal CNS myelination	HP:0011400
2071	ERCC3	Confusion	HP:0001289
2071	ERCC3	Hypermelanotic macule	HP:0001034
2071	ERCC3	Diplopia	HP:0000651
2071	ERCC3	Conjunctival telangiectasia	HP:0000524
2071	ERCC3	Craniofacial hyperostosis	HP:0004493
2071	ERCC3	Arthralgia	HP:0002829
2071	ERCC3	Decreased fertility	HP:0000144
2071	ERCC3	Ectropion	HP:0000656
2071	ERCC3	Sensorineural hearing impairment	HP:0000407
2071	ERCC3	Abnormality of extrapyramidal motor function	HP:0002071
2071	ERCC3	Increased cellular sensitivity to UV light	HP:0003224
2071	ERCC3	Cutaneous melanoma	HP:0012056
2071	ERCC3	Flat nasal alae	HP:0010649
2071	ERCC3	Fever	HP:0001945
2071	ERCC3	Aminoaciduria	HP:0003355
2071	ERCC3	Ankyloblepharon	HP:0009755
2071	ERCC3	Cryptorchidism	HP:0000028
2071	ERCC3	Hypopigmented skin patches	HP:0001053
2071	ERCC3	Decreased testicular size	HP:0008734
2071	ERCC3	Erythema	HP:0010783
2071	ERCC3	Coarse hair	HP:0002208
2071	ERCC3	Numerous pigmented freckles	HP:0007587
2071	ERCC3	Reduced tendon reflexes	HP:0001315
2071	ERCC3	Pterygium	HP:0001059
2071	ERCC3	Abnormality of the dentition	HP:0000164
2071	ERCC3	Melanoma	HP:0002861
2071	ERCC3	Neoplasm of the eye	HP:0100012
2071	ERCC3	EEG abnormality	HP:0002353
2071	ERCC3	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
2071	ERCC3	Microphthalmia	HP:0000568
2071	ERCC3	Alopecia	HP:0001596
2071	ERCC3	Dry skin	HP:0000958
2071	ERCC3	Cognitive impairment	HP:0100543
2071	ERCC3	Delayed skeletal maturation	HP:0002750
2071	ERCC3	Hyperkeratosis	HP:0000962
2071	ERCC3	Thin skin	HP:0000963
2071	ERCC3	Hyperreflexia	HP:0001347
2071	ERCC3	Demyelinating peripheral neuropathy	HP:0007108
2071	ERCC3	Papilloma	HP:0012740
2071	ERCC3	Pigmentary retinopathy	HP:0000580
2071	ERCC3	Prematurely aged appearance	HP:0007495
2071	ERCC3	Ventriculomegaly	HP:0002119
2071	ERCC3	Developmental regression	HP:0002376
2071	ERCC3	Freckling	HP:0001480
2071	ERCC3	Cerebral cortical atrophy	HP:0002120
2071	ERCC3	Arteriosclerosis	HP:0002634
2071	ERCC3	Opacification of the corneal stroma	HP:0007759
2071	ERCC3	Progeroid facial appearance	HP:0005328
2071	ERCC3	Squamous cell carcinoma of the skin	HP:0006739
2071	ERCC3	Basal ganglia calcification	HP:0002135
2071	ERCC3	Fatigue	HP:0012378
2071	ERCC3	Skin rash	HP:0000988
2071	ERCC3	Cutaneous photosensitivity	HP:0000992
2071	ERCC3	Intellectual disability	HP:0001249
2071	ERCC3	Short stature	HP:0004322
2071	ERCC3	Seizures	HP:0001250
2071	ERCC3	Ataxia	HP:0001251
2071	ERCC3	Melanocytic nevus	HP:0000995
2071	ERCC3	Failure to thrive	HP:0001508
2071	ERCC3	Photophobia	HP:0000613
2071	ERCC3	Cachexia	HP:0004326
2071	ERCC3	Peripheral neuropathy	HP:0009830
2071	ERCC3	Strabismus	HP:0000486
2071	ERCC3	Intellectual disability, progressive	HP:0006887
2071	ERCC3	Retinopathy	HP:0000488
2071	ERCC3	Neoplasm	HP:0002664
2071	ERCC3	Telangiectasia of the skin	HP:0100585
2071	ERCC3	Spasticity	HP:0001257
2071	ERCC3	Keratitis	HP:0000491
2071	ERCC3	Dysarthria	HP:0001260
2071	ERCC3	Hearing impairment	HP:0000365
2071	ERCC3	Entropion	HP:0000621
2071	ERCC3	Hydrocephalus	HP:0000238
2071	ERCC3	Dermal atrophy	HP:0004334
2071	ERCC3	Global developmental delay	HP:0001263
2071	ERCC3	Basal cell carcinoma	HP:0002671
2071	ERCC3	Abnormality of amino acid metabolism	HP:0004337
2071	ERCC3	Blepharitis	HP:0000498
2071	ERCC3	Cerebellar atrophy	HP:0001272
2071	ERCC3	Decreased nerve conduction velocity	HP:0000762
2071	ERCC3	Brittle hair	HP:0002299
2071	ERCC3	Microcephaly	HP:0000252
2071	ERCC3	Nystagmus	HP:0000639
2071	ERCC3	Tiger tail banding	HP:0045055
83990	BRIP1	Umbilical hernia	HP:0001537
83990	BRIP1	Duodenal stenosis	HP:0100867
83990	BRIP1	Ovarian neoplasm	HP:0100615
83990	BRIP1	Cataract	HP:0000518
83990	BRIP1	Abnormality of femur morphology	HP:0002823
83990	BRIP1	Autosomal recessive inheritance	HP:0000007
83990	BRIP1	Proptosis	HP:0000520
83990	BRIP1	Decreased fertility in males	HP:0012041
83990	BRIP1	Recurrent urinary tract infections	HP:0000010
83990	BRIP1	Hip dislocation	HP:0002827
83990	BRIP1	Dolichocephaly	HP:0000268
83990	BRIP1	Tracheoesophageal fistula	HP:0002575
83990	BRIP1	Abnormality of the fallopian tube	HP:0011027
83990	BRIP1	Oligohydramnios	HP:0001562
83990	BRIP1	Azoospermia	HP:0000027
83990	BRIP1	Cryptorchidism	HP:0000028
83990	BRIP1	Hypopigmented skin patches	HP:0001053
83990	BRIP1	Epicanthus	HP:0000286
83990	BRIP1	Weight loss	HP:0001824
83990	BRIP1	Melanoma	HP:0002861
83990	BRIP1	Bicornuate uterus	HP:0000813
83990	BRIP1	Myelodysplasia	HP:0002863
83990	BRIP1	Hypospadias	HP:0000047
83990	BRIP1	Short thumb	HP:0009778
83990	BRIP1	Aplasia/Hypoplasia of the uvula	HP:0010293
83990	BRIP1	Microphthalmia	HP:0000568
83990	BRIP1	Hypertelorism	HP:0000316
83990	BRIP1	Hyperreflexia	HP:0001347
83990	BRIP1	Facial asymmetry	HP:0000324
83990	BRIP1	Upslanted palpebral fissure	HP:0000582
83990	BRIP1	Ventriculomegaly	HP:0002119
83990	BRIP1	Hydroureter	HP:0000072
83990	BRIP1	Neoplasm of the pancreas	HP:0002894
83990	BRIP1	Thrombocytopenia	HP:0001873
83990	BRIP1	Renal insufficiency	HP:0000083
83990	BRIP1	Sloping forehead	HP:0000340
83990	BRIP1	Scoliosis	HP:0002650
83990	BRIP1	Leukopenia	HP:0001882
83990	BRIP1	Micrognathia	HP:0000347
83990	BRIP1	Prostate cancer	HP:0012125
83990	BRIP1	Atrial septal defect	HP:0001631
83990	BRIP1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
83990	BRIP1	Tetralogy of Fallot	HP:0001636
83990	BRIP1	Aplasia/Hypoplasia of the radius	HP:0006501
83990	BRIP1	Hypertrophic cardiomyopathy	HP:0001639
83990	BRIP1	Patent ductus arteriosus	HP:0001643
83990	BRIP1	Hearing impairment	HP:0000365
83990	BRIP1	Abnormal aortic valve morphology	HP:0001646
83990	BRIP1	Spina bifida	HP:0002414
83990	BRIP1	Abnormality of the liver	HP:0001392
83990	BRIP1	Clinodactyly of the 5th finger	HP:0004209
83990	BRIP1	Aplasia/Hypoplasia of the iris	HP:0008053
83990	BRIP1	Aplasia/Hypoplasia of fingers	HP:0006265
83990	BRIP1	External ear malformation	HP:0008572
83990	BRIP1	Nystagmus	HP:0000639
83990	BRIP1	Hypogonadism	HP:0000135
83990	BRIP1	Multiple cafe-au-lait spots	HP:0007565
83990	BRIP1	Abnormal aortic morphology	HP:0001679
83990	BRIP1	Pyridoxine-responsive sideroblastic anemia	HP:0005522
83990	BRIP1	Abnormality of chromosome stability	HP:0003220
83990	BRIP1	Chromosomal breakage induced by crosslinking agents	HP:0003221
83990	BRIP1	Bone marrow hypocellularity	HP:0005528
83990	BRIP1	Clubbing of toes	HP:0100760
83990	BRIP1	Cranial nerve paralysis	HP:0006824
83990	BRIP1	Cleft palate	HP:0000175
83990	BRIP1	Triphalangeal thumb	HP:0001199
83990	BRIP1	Breast carcinoma	HP:0003002
83990	BRIP1	Arteriovenous malformation	HP:0100026
83990	BRIP1	Abnormal localization of kidney	HP:0100542
83990	BRIP1	Postnatal growth retardation	HP:0008897
83990	BRIP1	Almond-shaped palpebral fissure	HP:0007874
83990	BRIP1	Meckel diverticulum	HP:0002245
83990	BRIP1	Choanal atresia	HP:0000453
83990	BRIP1	Primary peritoneal carcinoma	HP:0030406
83990	BRIP1	Short palpebral fissure	HP:0012745
83990	BRIP1	Aganglionic megacolon	HP:0002251
83990	BRIP1	Hypoplasia of the ulna	HP:0003022
83990	BRIP1	Finger syndactyly	HP:0006101
83990	BRIP1	Frontal bossing	HP:0002007
83990	BRIP1	High palate	HP:0000218
83990	BRIP1	Abnormal carotid artery morphology	HP:0005344
83990	BRIP1	Intellectual disability	HP:0001249
83990	BRIP1	Short stature	HP:0004322
83990	BRIP1	Pes planus	HP:0001763
83990	BRIP1	Astigmatism	HP:0000483
83990	BRIP1	Absent testis	HP:0010469
83990	BRIP1	Renal hypoplasia/aplasia	HP:0008678
83990	BRIP1	Strabismus	HP:0000486
83990	BRIP1	Anal atresia	HP:0002023
83990	BRIP1	Intrauterine growth retardation	HP:0001511
83990	BRIP1	Irregular hyperpigmentation	HP:0007400
83990	BRIP1	Toe syndactyly	HP:0001770
83990	BRIP1	Abnormality of the preputium	HP:0100587
83990	BRIP1	Hydrocephalus	HP:0000238
83990	BRIP1	Global developmental delay	HP:0001263
83990	BRIP1	Visual impairment	HP:0000505
83990	BRIP1	Microcephaly	HP:0000252
83990	BRIP1	Ptosis	HP:0000508
83990	BRIP1	Reduced bone mineral density	HP:0004349
2072	ERCC4	Urticaria	HP:0001025
2072	ERCC4	Umbilical hernia	HP:0001537
2072	ERCC4	Duodenal stenosis	HP:0100867
2072	ERCC4	Poikiloderma	HP:0001029
2072	ERCC4	Ascites	HP:0001541
2072	ERCC4	Cataract	HP:0000518
2072	ERCC4	Abnormality of femur morphology	HP:0002823
2072	ERCC4	Defective DNA repair after ultraviolet radiation damage	HP:0003079
2072	ERCC4	Autosomal recessive inheritance	HP:0000007
2072	ERCC4	Proptosis	HP:0000520
2072	ERCC4	Confusion	HP:0001289
2072	ERCC4	Decreased fertility in males	HP:0012041
2072	ERCC4	Infantile onset	HP:0003593
2072	ERCC4	Hypermelanotic macule	HP:0001034
2072	ERCC4	Recurrent urinary tract infections	HP:0000010
2072	ERCC4	Hip dislocation	HP:0002827
2072	ERCC4	Conjunctival telangiectasia	HP:0000524
2072	ERCC4	Dolichocephaly	HP:0000268
2072	ERCC4	Arthralgia	HP:0002829
2072	ERCC4	Tracheoesophageal fistula	HP:0002575
2072	ERCC4	Narrow face	HP:0000275
2072	ERCC4	Abnormality of extrapyramidal motor function	HP:0002071
2072	ERCC4	Biliary atresia	HP:0005912
2072	ERCC4	Oligohydramnios	HP:0001562
2072	ERCC4	Aminoaciduria	HP:0003355
2072	ERCC4	Ankyloblepharon	HP:0009755
2072	ERCC4	Azoospermia	HP:0000027
2072	ERCC4	Cryptorchidism	HP:0000028
2072	ERCC4	Hypopigmented skin patches	HP:0001053
2072	ERCC4	Decreased testicular size	HP:0008734
2072	ERCC4	Epicanthus	HP:0000286
2072	ERCC4	Erythema	HP:0010783
2072	ERCC4	Weight loss	HP:0001824
2072	ERCC4	Reduced tendon reflexes	HP:0001315
2072	ERCC4	Pterygium	HP:0001059
2072	ERCC4	Melanoma	HP:0002861
2072	ERCC4	Bicornuate uterus	HP:0000813
2072	ERCC4	Myelodysplasia	HP:0002863
2072	ERCC4	Hypospadias	HP:0000047
2072	ERCC4	EEG abnormality	HP:0002353
2072	ERCC4	Absent thumb	HP:0009777
2072	ERCC4	Aplasia/Hypoplasia of the uvula	HP:0010293
2072	ERCC4	Hypertension	HP:0000822
2072	ERCC4	Seborrheic keratosis	HP:0031287
2072	ERCC4	Microphthalmia	HP:0000568
2072	ERCC4	Tremor	HP:0001337
2072	ERCC4	Alopecia	HP:0001596
2072	ERCC4	Hypertelorism	HP:0000316
2072	ERCC4	Poor coordination	HP:0002370
2072	ERCC4	Hyperreflexia	HP:0001347
2072	ERCC4	Facial asymmetry	HP:0000324
2072	ERCC4	Upslanted palpebral fissure	HP:0000582
2072	ERCC4	Prematurely aged appearance	HP:0007495
2072	ERCC4	Ventriculomegaly	HP:0002119
2072	ERCC4	Developmental regression	HP:0002376
2072	ERCC4	Cerebral cortical atrophy	HP:0002120
2072	ERCC4	Hydroureter	HP:0000072
2072	ERCC4	Arteriosclerosis	HP:0002634
2072	ERCC4	Opacification of the corneal stroma	HP:0007759
2072	ERCC4	Prominent supraorbital ridges	HP:0000336
2072	ERCC4	Thrombocytopenia	HP:0001873
2072	ERCC4	Squamous cell carcinoma of the skin	HP:0006739
2072	ERCC4	Renal insufficiency	HP:0000083
2072	ERCC4	High pitched voice	HP:0001620
2072	ERCC4	Sloping forehead	HP:0000340
2072	ERCC4	Fatigue	HP:0012378
2072	ERCC4	Scoliosis	HP:0002650
2072	ERCC4	Leukopenia	HP:0001882
2072	ERCC4	Micrognathia	HP:0000347
2072	ERCC4	Flexion contracture	HP:0001371
2072	ERCC4	Proteinuria	HP:0000093
2072	ERCC4	Elevated hepatic transaminase	HP:0002910
2072	ERCC4	Lack of subcutaneous fatty tissue	HP:0007519
2072	ERCC4	Atrial septal defect	HP:0001631
2072	ERCC4	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2072	ERCC4	Papule	HP:0200034
2072	ERCC4	Tetralogy of Fallot	HP:0001636
2072	ERCC4	Photophobia	HP:0000613
2072	ERCC4	Aplasia/Hypoplasia of the radius	HP:0006501
2072	ERCC4	Peripheral neuropathy	HP:0009830
2072	ERCC4	Hypertrophic cardiomyopathy	HP:0001639
2072	ERCC4	Patent ductus arteriosus	HP:0001643
2072	ERCC4	Hearing impairment	HP:0000365
2072	ERCC4	Entropion	HP:0000621
2072	ERCC4	Abnormal aortic valve morphology	HP:0001646
2072	ERCC4	Spina bifida	HP:0002414
2072	ERCC4	Basal cell carcinoma	HP:0002671
2072	ERCC4	Abnormality of the liver	HP:0001392
2072	ERCC4	Clinodactyly of the 5th finger	HP:0004209
2072	ERCC4	Low-set ears	HP:0000369
2072	ERCC4	Aplasia/Hypoplasia of the iris	HP:0008053
2072	ERCC4	Aplasia/Hypoplasia of fingers	HP:0006265
2072	ERCC4	External ear malformation	HP:0008572
2072	ERCC4	Nystagmus	HP:0000639
2072	ERCC4	Hypogonadism	HP:0000135
2072	ERCC4	Optic atrophy	HP:0000648
2072	ERCC4	Diplopia	HP:0000651
2072	ERCC4	Craniofacial hyperostosis	HP:0004493
2072	ERCC4	Multiple cafe-au-lait spots	HP:0007565
2072	ERCC4	Abnormal aortic morphology	HP:0001679
2072	ERCC4	Ectropion	HP:0000656
2072	ERCC4	Pyridoxine-responsive sideroblastic anemia	HP:0005522
2072	ERCC4	Abnormality of chromosome stability	HP:0003220
2072	ERCC4	Sensorineural hearing impairment	HP:0000407
2072	ERCC4	Bone marrow hypocellularity	HP:0005528
2072	ERCC4	Hypoplasia of dental enamel	HP:0006297
2072	ERCC4	Flat nasal alae	HP:0010649
2072	ERCC4	Fever	HP:0001945
2072	ERCC4	Clubbing of toes	HP:0100760
2072	ERCC4	Brain atrophy	HP:0012444
2072	ERCC4	Numerous pigmented freckles	HP:0007587
2072	ERCC4	Abnormality of the dentition	HP:0000164
2072	ERCC4	Cranial nerve paralysis	HP:0006824
2072	ERCC4	Neoplasm of the eye	HP:0100012
2072	ERCC4	Cleft palate	HP:0000175
2072	ERCC4	Triphalangeal thumb	HP:0001199
2072	ERCC4	Severe short stature	HP:0003510
2072	ERCC4	Arteriovenous malformation	HP:0100026
2072	ERCC4	Dry skin	HP:0000958
2072	ERCC4	Delayed skeletal maturation	HP:0002750
2072	ERCC4	Cognitive impairment	HP:0100543
2072	ERCC4	Abnormal localization of kidney	HP:0100542
2072	ERCC4	Hyperkeratosis	HP:0000962
2072	ERCC4	Almond-shaped palpebral fissure	HP:0007874
2072	ERCC4	Thin skin	HP:0000963
2072	ERCC4	Demyelinating peripheral neuropathy	HP:0007108
2072	ERCC4	Papilloma	HP:0012740
2072	ERCC4	Meckel diverticulum	HP:0002245
2072	ERCC4	Choanal atresia	HP:0000453
2072	ERCC4	Freckling	HP:0001480
2072	ERCC4	Short palpebral fissure	HP:0012745
2072	ERCC4	Aganglionic megacolon	HP:0002251
2072	ERCC4	Hypoplasia of the ulna	HP:0003022
2072	ERCC4	Finger syndactyly	HP:0006101
2072	ERCC4	Dementia	HP:0000726
2072	ERCC4	Frontal bossing	HP:0002007
2072	ERCC4	High palate	HP:0000218
2072	ERCC4	Morphological abnormality of the central nervous system	HP:0002011
2072	ERCC4	Skin rash	HP:0000988
2072	ERCC4	Cutaneous photosensitivity	HP:0000992
2072	ERCC4	Abnormal carotid artery morphology	HP:0005344
2072	ERCC4	Intellectual disability	HP:0001249
2072	ERCC4	Short stature	HP:0004322
2072	ERCC4	Seizures	HP:0001250
2072	ERCC4	Ataxia	HP:0001251
2072	ERCC4	Melanocytic nevus	HP:0000995
2072	ERCC4	Pes planus	HP:0001763
2072	ERCC4	Astigmatism	HP:0000483
2072	ERCC4	Failure to thrive	HP:0001508
2072	ERCC4	Absent testis	HP:0010469
2072	ERCC4	Decreased body weight	HP:0004325
2072	ERCC4	Cachexia	HP:0004326
2072	ERCC4	Strabismus	HP:0000486
2072	ERCC4	Renal hypoplasia/aplasia	HP:0008678
2072	ERCC4	Intellectual disability, progressive	HP:0006887
2072	ERCC4	Anal atresia	HP:0002023
2072	ERCC4	Intrauterine growth retardation	HP:0001511
2072	ERCC4	Retinopathy	HP:0000488
2072	ERCC4	Intellectual disability, mild	HP:0001256
2072	ERCC4	Telangiectasia of the skin	HP:0100585
2072	ERCC4	Irregular hyperpigmentation	HP:0007400
2072	ERCC4	Spasticity	HP:0001257
2072	ERCC4	Deeply set eye	HP:0000490
2072	ERCC4	Toe syndactyly	HP:0001770
2072	ERCC4	Abnormality of the preputium	HP:0100587
2072	ERCC4	Keratitis	HP:0000491
2072	ERCC4	Dysarthria	HP:0001260
2072	ERCC4	Hydrocephalus	HP:0000238
2072	ERCC4	Dermal atrophy	HP:0004334
2072	ERCC4	Global developmental delay	HP:0001263
2072	ERCC4	Esophageal atresia	HP:0002032
2072	ERCC4	Abnormality of amino acid metabolism	HP:0004337
2072	ERCC4	Blepharitis	HP:0000498
2072	ERCC4	Visual impairment	HP:0000505
2072	ERCC4	Microcephaly	HP:0000252
2072	ERCC4	Ptosis	HP:0000508
2072	ERCC4	Reduced bone mineral density	HP:0004349
2073	ERCC5	Urticaria	HP:0001025
2073	ERCC5	Poikiloderma	HP:0001029
2073	ERCC5	Cataract	HP:0000518
2073	ERCC5	Autosomal recessive inheritance	HP:0000007
2073	ERCC5	Defective DNA repair after ultraviolet radiation damage	HP:0003079
2073	ERCC5	Confusion	HP:0001289
2073	ERCC5	Hypermelanotic macule	HP:0001034
2073	ERCC5	Conjunctival telangiectasia	HP:0000524
2073	ERCC5	Arthralgia	HP:0002829
2073	ERCC5	Decreased fetal movement	HP:0001558
2073	ERCC5	Abnormality of retinal pigmentation	HP:0007703
2073	ERCC5	Abnormality of extrapyramidal motor function	HP:0002071
2073	ERCC5	Aminoaciduria	HP:0003355
2073	ERCC5	Ankyloblepharon	HP:0009755
2073	ERCC5	Cryptorchidism	HP:0000028
2073	ERCC5	Hypopigmented skin patches	HP:0001053
2073	ERCC5	Decreased testicular size	HP:0008734
2073	ERCC5	Erythema	HP:0010783
2073	ERCC5	Reduced tendon reflexes	HP:0001315
2073	ERCC5	Pterygium	HP:0001059
2073	ERCC5	Melanoma	HP:0002861
2073	ERCC5	Rocker bottom foot	HP:0001838
2073	ERCC5	EEG abnormality	HP:0002353
2073	ERCC5	Microphthalmia	HP:0000568
2073	ERCC5	Tremor	HP:0001337
2073	ERCC5	Alopecia	HP:0001596
2073	ERCC5	Prematurely aged appearance	HP:0007495
2073	ERCC5	Cerebral cortical atrophy	HP:0002120
2073	ERCC5	Developmental regression	HP:0002376
2073	ERCC5	Arteriosclerosis	HP:0002634
2073	ERCC5	Opacification of the corneal stroma	HP:0007759
2073	ERCC5	Severe global developmental delay	HP:0011344
2073	ERCC5	Squamous cell carcinoma of the skin	HP:0006739
2073	ERCC5	Fatigue	HP:0012378
2073	ERCC5	Micrognathia	HP:0000347
2073	ERCC5	Talipes	HP:0001883
2073	ERCC5	Photophobia	HP:0000613
2073	ERCC5	Peripheral neuropathy	HP:0009830
2073	ERCC5	Joint stiffness	HP:0001387
2073	ERCC5	Hearing impairment	HP:0000365
2073	ERCC5	Entropion	HP:0000621
2073	ERCC5	Basal cell carcinoma	HP:0002671
2073	ERCC5	Prominent metopic ridge	HP:0005487
2073	ERCC5	Low-set ears	HP:0000369
2073	ERCC5	Nystagmus	HP:0000639
2073	ERCC5	Hypogonadism	HP:0000135
2073	ERCC5	Optic atrophy	HP:0000648
2073	ERCC5	Diplopia	HP:0000651
2073	ERCC5	Camptodactyly of finger	HP:0100490
2073	ERCC5	Craniofacial hyperostosis	HP:0004493
2073	ERCC5	Ectropion	HP:0000656
2073	ERCC5	Sensorineural hearing impairment	HP:0000407
2073	ERCC5	Flat nasal alae	HP:0010649
2073	ERCC5	Fever	HP:0001945
2073	ERCC5	Numerous pigmented freckles	HP:0007587
2073	ERCC5	Abnormality of the dentition	HP:0000164
2073	ERCC5	Feeding difficulties in infancy	HP:0008872
2073	ERCC5	Neoplasm of the eye	HP:0100012
2073	ERCC5	Wide nasal bridge	HP:0000431
2073	ERCC5	Cleft palate	HP:0000175
2073	ERCC5	Dry skin	HP:0000958
2073	ERCC5	Delayed skeletal maturation	HP:0002750
2073	ERCC5	Cognitive impairment	HP:0100543
2073	ERCC5	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2073	ERCC5	Hyperkeratosis	HP:0000962
2073	ERCC5	Thin skin	HP:0000963
2073	ERCC5	Demyelinating peripheral neuropathy	HP:0007108
2073	ERCC5	Papilloma	HP:0012740
2073	ERCC5	Freckling	HP:0001480
2073	ERCC5	Edema	HP:0000969
2073	ERCC5	Cerebral calcification	HP:0002514
2073	ERCC5	Short neck	HP:0000470
2073	ERCC5	Skin rash	HP:0000988
2073	ERCC5	Cutaneous photosensitivity	HP:0000992
2073	ERCC5	Intellectual disability	HP:0001249
2073	ERCC5	Pes cavus	HP:0001761
2073	ERCC5	Short stature	HP:0004322
2073	ERCC5	Abnormality of immune system physiology	HP:0010978
2073	ERCC5	Seizures	HP:0001250
2073	ERCC5	Talipes equinovarus	HP:0001762
2073	ERCC5	Ataxia	HP:0001251
2073	ERCC5	Melanocytic nevus	HP:0000995
2073	ERCC5	Muscular hypotonia	HP:0001252
2073	ERCC5	Failure to thrive	HP:0001508
2073	ERCC5	Cachexia	HP:0004326
2073	ERCC5	Strabismus	HP:0000486
2073	ERCC5	Growth delay	HP:0001510
2073	ERCC5	Intrauterine growth retardation	HP:0001511
2073	ERCC5	Intellectual disability, progressive	HP:0006887
2073	ERCC5	Retinopathy	HP:0000488
2073	ERCC5	Everted lower lip vermilion	HP:0000232
2073	ERCC5	Telangiectasia of the skin	HP:0100585
2073	ERCC5	Spasticity	HP:0001257
2073	ERCC5	Keratitis	HP:0000491
2073	ERCC5	Dysarthria	HP:0001260
2073	ERCC5	Hydrocephalus	HP:0000238
2073	ERCC5	Dermal atrophy	HP:0004334
2073	ERCC5	Global developmental delay	HP:0001263
2073	ERCC5	Abnormality of amino acid metabolism	HP:0004337
2073	ERCC5	Abnormal nasal morphology	HP:0005105
2073	ERCC5	Death in infancy	HP:0001522
2073	ERCC5	Blepharitis	HP:0000498
2073	ERCC5	Arthrogryposis multiplex congenita	HP:0002804
2073	ERCC5	Variable expressivity	HP:0003828
2073	ERCC5	Visual impairment	HP:0000505
2073	ERCC5	Microcephaly	HP:0000252
2073	ERCC5	Hypertonia	HP:0001276
10265	IRX5	Preauricular skin tag	HP:0000384
10265	IRX5	Short 2nd finger	HP:0009536
10265	IRX5	Clinodactyly	HP:0030084
10265	IRX5	Syndactyly	HP:0001159
10265	IRX5	Autosomal recessive inheritance	HP:0000007
10265	IRX5	Developmental regression	HP:0002376
10265	IRX5	Hypochromic anemia	HP:0001931
10265	IRX5	Anteverted nares	HP:0000463
10265	IRX5	Moderate global developmental delay	HP:0011343
10265	IRX5	Microcytic anemia	HP:0001935
10265	IRX5	Long toe	HP:0010511
10265	IRX5	Webbed neck	HP:0000465
10265	IRX5	Craniosynostosis	HP:0001363
10265	IRX5	Down-sloping shoulders	HP:0200021
10265	IRX5	Sensorineural hearing impairment	HP:0000407
10265	IRX5	Inguinal hernia	HP:0000023
10265	IRX5	Long philtrum	HP:0000343
10265	IRX5	Sparse lateral eyebrow	HP:0005338
10265	IRX5	High palate	HP:0000218
10265	IRX5	Wide mouth	HP:0000154
10265	IRX5	Micrognathia	HP:0000347
10265	IRX5	Cryptorchidism	HP:0000028
10265	IRX5	Hypodontia	HP:0000668
10265	IRX5	Tapered finger	HP:0001182
10265	IRX5	Atrial septal defect	HP:0001631
10265	IRX5	Dysphagia	HP:0002015
10265	IRX5	Hip dysplasia	HP:0001385
10265	IRX5	Osteopenia	HP:0000938
10265	IRX5	Wide nasal bridge	HP:0000431
10265	IRX5	Dental malocclusion	HP:0000689
10265	IRX5	Low-set ears	HP:0000369
10265	IRX5	Low posterior hairline	HP:0002162
10265	IRX5	Mitral regurgitation	HP:0001653
10265	IRX5	Brachycephaly	HP:0000248
10265	IRX5	High myopia	HP:0011003
10265	IRX5	Hypertelorism	HP:0000316
10265	IRX5	Hypoparathyroidism	HP:0000829
10265	IRX5	Pectus excavatum	HP:0000767
10265	IRX5	Smooth philtrum	HP:0000319
2074	ERCC6	Joint contracture of the hand	HP:0009473
2074	ERCC6	Areflexia	HP:0001284
2074	ERCC6	Poikiloderma	HP:0001029
2074	ERCC6	Cataract	HP:0000518
2074	ERCC6	Autosomal dominant inheritance	HP:0000006
2074	ERCC6	Autosomal recessive inheritance	HP:0000007
2074	ERCC6	Defective DNA repair after ultraviolet radiation damage	HP:0003079
2074	ERCC6	Infantile onset	HP:0003593
2074	ERCC6	Generalized hypotonia	HP:0001290
2074	ERCC6	Cerebral atrophy	HP:0002059
2074	ERCC6	Abnormality of retinal pigmentation	HP:0007703
2074	ERCC6	Hypermetropia	HP:0000540
2074	ERCC6	Cryptorchidism	HP:0000028
2074	ERCC6	Reduced tendon reflexes	HP:0001315
2074	ERCC6	Loss of facial adipose tissue	HP:0000292
2074	ERCC6	Normal pressure hydrocephalus	HP:0002343
2074	ERCC6	Elevated circulating follicle stimulating hormone level	HP:0008232
2074	ERCC6	Cerebellar hypoplasia	HP:0001321
2074	ERCC6	Muscle weakness	HP:0001324
2074	ERCC6	Melanoma	HP:0002861
2074	ERCC6	Abnormal auditory evoked potentials	HP:0006958
2074	ERCC6	Rocker bottom foot	HP:0001838
2074	ERCC6	Mandibular prognathia	HP:0000303
2074	ERCC6	Hypoplastic iliac wing	HP:0002866
2074	ERCC6	Hypertension	HP:0000822
2074	ERCC6	Micropenis	HP:0000054
2074	ERCC6	Microphthalmia	HP:0000568
2074	ERCC6	Tremor	HP:0001337
2074	ERCC6	Abnormal peripheral myelination	HP:0003130
2074	ERCC6	Abnormal hair morphology	HP:0001595
2074	ERCC6	Pigmentary retinopathy	HP:0000580
2074	ERCC6	Blepharophimosis	HP:0000581
2074	ERCC6	Cerebral cortical atrophy	HP:0002120
2074	ERCC6	Deep longitudinal plantar crease	HP:0004681
2074	ERCC6	Opacification of the corneal stroma	HP:0007759
2074	ERCC6	Severe global developmental delay	HP:0011344
2074	ERCC6	Renal insufficiency	HP:0000083
2074	ERCC6	Sloping forehead	HP:0000340
2074	ERCC6	Abnormality of the ear	HP:0000598
2074	ERCC6	Basal ganglia calcification	HP:0002135
2074	ERCC6	Long philtrum	HP:0000343
2074	ERCC6	Micrognathia	HP:0000347
2074	ERCC6	Talipes	HP:0001883
2074	ERCC6	Proteinuria	HP:0000093
2074	ERCC6	Dry hair	HP:0011359
2074	ERCC6	Limitation of joint mobility	HP:0001376
2074	ERCC6	Camptodactyly	HP:0012385
2074	ERCC6	Photophobia	HP:0000613
2074	ERCC6	Secondary amenorrhea	HP:0000869
2074	ERCC6	Peripheral neuropathy	HP:0009830
2074	ERCC6	Neoplasm	HP:0002664
2074	ERCC6	Joint stiffness	HP:0001387
2074	ERCC6	Oligomenorrhea	HP:0000876
2074	ERCC6	Entropion	HP:0000621
2074	ERCC6	Prominent metopic ridge	HP:0005487
2074	ERCC6	Coxa valga	HP:0002673
2074	ERCC6	Abnormality of the pinna	HP:0000377
2074	ERCC6	Decreased lacrimation	HP:0000633
2074	ERCC6	Gliosis	HP:0002171
2074	ERCC6	Thickened calvaria	HP:0002684
2074	ERCC6	Nystagmus	HP:0000639
2074	ERCC6	Sparse hair	HP:0008070
2074	ERCC6	Hypogonadism	HP:0000135
2074	ERCC6	Hypoplastic pelvis	HP:0008839
2074	ERCC6	Optic atrophy	HP:0000648
2074	ERCC6	Abnormality of visual evoked potentials	HP:0000649
2074	ERCC6	Camptodactyly of finger	HP:0100490
2074	ERCC6	Intellectual disability, profound	HP:0002187
2074	ERCC6	Peripheral dysmyelination	HP:0003469
2074	ERCC6	Ectropion	HP:0000656
2074	ERCC6	Heterogeneous	HP:0001425
2074	ERCC6	Sensorineural hearing impairment	HP:0000407
2074	ERCC6	Increased cellular sensitivity to UV light	HP:0003224
2074	ERCC6	Arrhythmia	HP:0011675
2074	ERCC6	Carious teeth	HP:0000670
2074	ERCC6	Delayed myelination	HP:0012448
2074	ERCC6	Slender nose	HP:0000417
2074	ERCC6	Feeding difficulties in infancy	HP:0008872
2074	ERCC6	Delayed eruption of primary teeth	HP:0000680
2074	ERCC6	Prominent nasal bridge	HP:0000426
2074	ERCC6	Osteoporosis	HP:0000939
2074	ERCC6	Elbow flexion contracture	HP:0002987
2074	ERCC6	Hypoplasia of teeth	HP:0000685
2074	ERCC6	Reduced subcutaneous adipose tissue	HP:0003758
2074	ERCC6	Wide nasal bridge	HP:0000431
2074	ERCC6	Dental malocclusion	HP:0000689
2074	ERCC6	Subcortical white matter calcifications	HP:0007346
2074	ERCC6	Severe short stature	HP:0003510
2074	ERCC6	Cerebellar calcifications	HP:0007352
2074	ERCC6	Second metatarsal posteriorly placed	HP:0008125
2074	ERCC6	Dry skin	HP:0000958
2074	ERCC6	Gonadal hypoplasia	HP:0008639
2074	ERCC6	Kyphoscoliosis	HP:0002751
2074	ERCC6	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2074	ERCC6	Hepatomegaly	HP:0002240
2074	ERCC6	Postnatal growth retardation	HP:0008897
2074	ERCC6	Pigmentation anomalies of sun-exposed skin	HP:0007623
2074	ERCC6	Freckling	HP:0001480
2074	ERCC6	Anhidrosis	HP:0000970
2074	ERCC6	Square pelvis bone	HP:0003278
2074	ERCC6	Splenomegaly	HP:0001744
2074	ERCC6	Progeroid facial appearance	HP:0005328
2074	ERCC6	Cerebral calcification	HP:0002514
2074	ERCC6	Wide intermamillary distance	HP:0006610
2074	ERCC6	Short neck	HP:0000470
2074	ERCC6	Atypical scarring of skin	HP:0000987
2074	ERCC6	Cutaneous photosensitivity	HP:0000992
2074	ERCC6	Intellectual disability	HP:0001249
2074	ERCC6	Abnormality of immune system physiology	HP:0010978
2074	ERCC6	Seizures	HP:0001250
2074	ERCC6	Short stature	HP:0004322
2074	ERCC6	Microcornea	HP:0000482
2074	ERCC6	Ataxia	HP:0001251
2074	ERCC6	Muscular hypotonia	HP:0001252
2074	ERCC6	Failure to thrive	HP:0001508
2074	ERCC6	Strabismus	HP:0000486
2074	ERCC6	Intrauterine growth retardation	HP:0001511
2074	ERCC6	Everted lower lip vermilion	HP:0000232
2074	ERCC6	Abnormality of skin pigmentation	HP:0001000
2074	ERCC6	Spasticity	HP:0001257
2074	ERCC6	Thin vermilion border	HP:0000233
2074	ERCC6	Deeply set eye	HP:0000490
2074	ERCC6	Keratitis	HP:0000491
2074	ERCC6	Death in childhood	HP:0003819
2074	ERCC6	Knee flexion contracture	HP:0006380
2074	ERCC6	Dermal atrophy	HP:0004334
2074	ERCC6	Olivopontocerebellar atrophy	HP:0002542
2074	ERCC6	Small for gestational age	HP:0001518
2074	ERCC6	Hirsutism	HP:0001007
2074	ERCC6	Abnormal nasal morphology	HP:0005105
2074	ERCC6	Telangiectasia	HP:0001009
2074	ERCC6	Hyporeflexia	HP:0001265
2074	ERCC6	Patchy demyelination of subcortical white matter	HP:0002545
2074	ERCC6	Death in infancy	HP:0001522
2074	ERCC6	Choreoathetosis	HP:0001266
2074	ERCC6	Arthrogryposis multiplex congenita	HP:0002804
2074	ERCC6	Mental deterioration	HP:0001268
2074	ERCC6	Severe failure to thrive	HP:0001525
2074	ERCC6	Polyneuropathy	HP:0001271
2074	ERCC6	Cerebellar atrophy	HP:0001272
2074	ERCC6	Kyphosis	HP:0002808
2074	ERCC6	Visual impairment	HP:0000505
2074	ERCC6	Ivory epiphyses of the phalanges of the hand	HP:0010234
2074	ERCC6	Decreased nerve conduction velocity	HP:0000762
2074	ERCC6	Agenesis of corpus callosum	HP:0001274
2074	ERCC6	Microcephaly	HP:0000252
2074	ERCC6	Hypertonia	HP:0001276
2074	ERCC6	Hypoplasia of the iris	HP:0007676
2074	ERCC6	Conjunctivitis	HP:0000509
51227	PIGP	Feeding difficulties	HP:0011968
51227	PIGP	Absent speech	HP:0001344
51227	PIGP	Cerebral visual impairment	HP:0100704
51227	PIGP	Seizures	HP:0001250
51227	PIGP	Decreased head circumference	HP:0040195
51227	PIGP	Hyperreflexia	HP:0001347
51227	PIGP	Epileptic encephalopathy	HP:0200134
51227	PIGP	Joint hypermobility	HP:0001382
51227	PIGP	Growth delay	HP:0001510
51227	PIGP	Neonatal onset	HP:0003623
51227	PIGP	Intellectual disability, profound	HP:0002187
51227	PIGP	Limb hypertonia	HP:0002509
51227	PIGP	Global developmental delay	HP:0001263
51227	PIGP	Poor eye contact	HP:0000817
51227	PIGP	Poor head control	HP:0002421
51227	PIGP	Multifocal epileptiform discharges	HP:0010841
51227	PIGP	Hypsarrhythmia	HP:0002521
51227	PIGP	Flexion contracture	HP:0001371
51227	PIGP	Hypoplasia of the corpus callosum	HP:0002079
165918	RNF168	Interstitial pulmonary abnormality	HP:0006530
165918	RNF168	Otitis media	HP:0000388
165918	RNF168	Recurrent pneumonia	HP:0006532
165918	RNF168	Demyelinating peripheral neuropathy	HP:0007108
165918	RNF168	Abnormality of the cerebral white matter	HP:0002500
165918	RNF168	Autosomal recessive inheritance	HP:0000007
165918	RNF168	Gait disturbance	HP:0001288
165918	RNF168	Clumsiness	HP:0002312
165918	RNF168	Emotional lability	HP:0000712
165918	RNF168	Headache	HP:0002315
165918	RNF168	Conjunctival telangiectasia	HP:0000524
165918	RNF168	Recurrent viral infections	HP:0004429
165918	RNF168	Mild global developmental delay	HP:0011342
165918	RNF168	Abnormal facial shape	HP:0001999
165918	RNF168	Poor hand-eye coordination	HP:0007057
165918	RNF168	Arthritis	HP:0001369
165918	RNF168	Intraventricular hemorrhage	HP:0030746
165918	RNF168	Decreased circulating IgG level	HP:0004315
165918	RNF168	Pulmonary fibrosis	HP:0002206
165918	RNF168	Diarrhea	HP:0002014
165918	RNF168	Erythema	HP:0010783
165918	RNF168	Decreased circulating IgA level	HP:0002720
165918	RNF168	Neonatal asphyxia	HP:0012768
165918	RNF168	Weight loss	HP:0001824
165918	RNF168	Immunodeficiency	HP:0002721
165918	RNF168	Short stature	HP:0004322
165918	RNF168	Recurrent fever	HP:0001954
165918	RNF168	Decreased circulating total IgM	HP:0002850
165918	RNF168	Ataxia	HP:0001251
165918	RNF168	Bronchitis	HP:0012387
165918	RNF168	Recurrent sinusitis	HP:0011108
165918	RNF168	Chronic sinusitis	HP:0011109
165918	RNF168	Restrictive ventilatory defect	HP:0002091
165918	RNF168	Abdominal pain	HP:0002027
165918	RNF168	Generalized lymphadenopathy	HP:0008940
165918	RNF168	Elevated alpha-fetoprotein	HP:0006254
165918	RNF168	Global developmental delay	HP:0001263
165918	RNF168	Specific learning disability	HP:0001328
165918	RNF168	Enuresis nocturna	HP:0010677
165918	RNF168	Chromosomal breakage induced by ionizing radiation	HP:0010997
165918	RNF168	Microcephaly	HP:0000252
165918	RNF168	Increased sensitivity to ionizing radiation	HP:0011133
165918	RNF168	Scaling skin	HP:0040189
165918	RNF168	Dry skin	HP:0000958
165918	RNF168	Respiratory failure	HP:0002878
10269	ZMPSTE24	Hyperglycemia	HP:0003074
10269	ZMPSTE24	Reticulated skin pigmentation	HP:0007427
10269	ZMPSTE24	Aplastic clavicle	HP:0006660
10269	ZMPSTE24	Hyperlipidemia	HP:0003077
10269	ZMPSTE24	Absence of pubertal development	HP:0008197
10269	ZMPSTE24	Autosomal recessive inheritance	HP:0000007
10269	ZMPSTE24	Short nail	HP:0001799
10269	ZMPSTE24	Proptosis	HP:0000520
10269	ZMPSTE24	Abnormal cellular phenotype	HP:0025354
10269	ZMPSTE24	Hip dislocation	HP:0002827
10269	ZMPSTE24	Multiple joint contractures	HP:0002828
10269	ZMPSTE24	Delayed cranial suture closure	HP:0000270
10269	ZMPSTE24	Sparse eyebrow	HP:0045075
10269	ZMPSTE24	Prominent scalp veins	HP:0001043
10269	ZMPSTE24	Infertility	HP:0000789
10269	ZMPSTE24	Decreased fetal movement	HP:0001558
10269	ZMPSTE24	Transient ischemic attack	HP:0002326
10269	ZMPSTE24	Decreased serum estradiol	HP:0008214
10269	ZMPSTE24	Sparse and thin eyebrow	HP:0000535
10269	ZMPSTE24	Thin nail	HP:0001816
10269	ZMPSTE24	Polyhydramnios	HP:0001561
10269	ZMPSTE24	Thoracic kyphoscoliosis	HP:0005659
10269	ZMPSTE24	Aminoaciduria	HP:0003355
10269	ZMPSTE24	Hypermetropia	HP:0000540
10269	ZMPSTE24	Loss of facial adipose tissue	HP:0000292
10269	ZMPSTE24	Microcolon	HP:0004388
10269	ZMPSTE24	Ankylosis	HP:0031013
10269	ZMPSTE24	Pulmonary hypoplasia	HP:0002089
10269	ZMPSTE24	Loss of truncal subcutaneous adipose tissue	HP:0009002
10269	ZMPSTE24	Hypogonadotrophic hypogonadism	HP:0000044
10269	ZMPSTE24	Mottled pigmentation	HP:0001070
10269	ZMPSTE24	Rocker bottom foot	HP:0001838
10269	ZMPSTE24	Hypospadias	HP:0000047
10269	ZMPSTE24	Absent eyelashes	HP:0000561
10269	ZMPSTE24	Loss of subcutaneous adipose tissue in limbs	HP:0003635
10269	ZMPSTE24	Congenital adrenal hypoplasia	HP:0008244
10269	ZMPSTE24	Aplasia/Hypoplasia of the clavicles	HP:0006710
10269	ZMPSTE24	Hypertension	HP:0000822
10269	ZMPSTE24	Delayed puberty	HP:0000823
10269	ZMPSTE24	Narrow nasal tip	HP:0011832
10269	ZMPSTE24	Alopecia	HP:0001596
10269	ZMPSTE24	Hypertelorism	HP:0000316
10269	ZMPSTE24	Premature coronary artery atherosclerosis	HP:0005181
10269	ZMPSTE24	Abnormal trabecular bone morphology	HP:0100671
10269	ZMPSTE24	Insulin-resistant diabetes mellitus	HP:0000831
10269	ZMPSTE24	Bird-like facies	HP:0000320
10269	ZMPSTE24	Intermittent claudication	HP:0004417
10269	ZMPSTE24	Arteriosclerosis of small cerebral arteries	HP:0004931
10269	ZMPSTE24	Adrenal hypoplasia	HP:0000835
10269	ZMPSTE24	Blepharophimosis	HP:0000581
10269	ZMPSTE24	Lack of skin elasticity	HP:0100679
10269	ZMPSTE24	Ureteral duplication	HP:0000073
10269	ZMPSTE24	Keratoconjunctivitis sicca	HP:0001097
10269	ZMPSTE24	Hyperinsulinemia	HP:0000842
10269	ZMPSTE24	Short phalanx of finger	HP:0009803
10269	ZMPSTE24	Nasal speech	HP:0001611
10269	ZMPSTE24	Acroosteolysis of distal phalanges (feet)	HP:0001870
10269	ZMPSTE24	Premature loss of teeth	HP:0006480
10269	ZMPSTE24	Tapering pointed ends of distal finger phalanges	HP:0006224
10269	ZMPSTE24	High pitched voice	HP:0001620
10269	ZMPSTE24	Wormian bones	HP:0002645
10269	ZMPSTE24	Craniofacial disproportion	HP:0005461
10269	ZMPSTE24	Premature birth	HP:0001622
10269	ZMPSTE24	Insulin resistance	HP:0000855
10269	ZMPSTE24	Broad-based gait	HP:0002136
10269	ZMPSTE24	Hyperphosphatemia	HP:0002905
10269	ZMPSTE24	Flexion contracture	HP:0001371
10269	ZMPSTE24	Micrognathia	HP:0000347
10269	ZMPSTE24	Regional abnormality of skin	HP:0011356
10269	ZMPSTE24	Atrial septal defect	HP:0001631
10269	ZMPSTE24	Decreased calvarial ossification	HP:0005474
10269	ZMPSTE24	Stiff skin	HP:0030053
10269	ZMPSTE24	Thrombocytosis	HP:0001894
10269	ZMPSTE24	Generalized lipodystrophy	HP:0009064
10269	ZMPSTE24	Skin erosion	HP:0200041
10269	ZMPSTE24	Ascending tubular aorta aneurysm	HP:0004970
10269	ZMPSTE24	Decreased adipose tissue around neck	HP:0005995
10269	ZMPSTE24	Patent ductus arteriosus	HP:0001643
10269	ZMPSTE24	Joint stiffness	HP:0001387
10269	ZMPSTE24	Hypertriglyceridemia	HP:0002155
10269	ZMPSTE24	Entropion	HP:0000621
10269	ZMPSTE24	Insulin-resistant diabetes mellitus at puberty	HP:0000877
10269	ZMPSTE24	Osteolytic defects of the distal phalanges of the hand	HP:0009839
10269	ZMPSTE24	Low-set ears	HP:0000369
10269	ZMPSTE24	Dextrocardia	HP:0001651
10269	ZMPSTE24	Thin ribs	HP:0000883
10269	ZMPSTE24	Nail dysplasia	HP:0002164
10269	ZMPSTE24	Hepatic steatosis	HP:0001397
10269	ZMPSTE24	Epidermal hyperkeratosis	HP:0007543
10269	ZMPSTE24	Prolonged QT interval	HP:0001657
10269	ZMPSTE24	Abnormality of the pinna	HP:0000377
10269	ZMPSTE24	Small placenta	HP:0006266
10269	ZMPSTE24	Large placenta	HP:0006267
10269	ZMPSTE24	Short nose	HP:0003196
10269	ZMPSTE24	Short clavicles	HP:0000894
10269	ZMPSTE24	Hypoplastic facial bones	HP:0002692
10269	ZMPSTE24	Increased anterioposterior diameter of thorax	HP:0005253
10269	ZMPSTE24	Transposition of the great arteries	HP:0001669
10269	ZMPSTE24	Sparse hair	HP:0008070
10269	ZMPSTE24	Progressive clavicular acroosteolysis	HP:0000905
10269	ZMPSTE24	Camptodactyly of finger	HP:0100490
10269	ZMPSTE24	Widely patent fontanelles and sutures	HP:0004492
10269	ZMPSTE24	Sparse eyelashes	HP:0000653
10269	ZMPSTE24	Macrotia	HP:0000400
10269	ZMPSTE24	Heterogeneous	HP:0001425
10269	ZMPSTE24	Angina pectoris	HP:0001681
10269	ZMPSTE24	Premature delivery because of cervical insufficiency or membrane fragility	HP:0005267
10269	ZMPSTE24	Hydropic placenta	HP:0011414
10269	ZMPSTE24	Sensorineural hearing impairment	HP:0000407
10269	ZMPSTE24	Dermal translucency	HP:0010648
10269	ZMPSTE24	Short distal phalanx of finger	HP:0009882
10269	ZMPSTE24	Hypodontia	HP:0000668
10269	ZMPSTE24	Narrow mouth	HP:0000160
10269	ZMPSTE24	Narrow nasal ridge	HP:0000418
10269	ZMPSTE24	Abnormality of the dentition	HP:0000164
10269	ZMPSTE24	Sparse or absent eyelashes	HP:0200102
10269	ZMPSTE24	Dental crowding	HP:0000678
10269	ZMPSTE24	Aplasia/Hypoplastia of the eccrine sweat glands	HP:0007592
10269	ZMPSTE24	Premature graying of hair	HP:0002216
10269	ZMPSTE24	Bilateral coxa valga	HP:0010665
10269	ZMPSTE24	Osteopenia	HP:0000938
10269	ZMPSTE24	Osteoporosis	HP:0000939
10269	ZMPSTE24	Short umbilical cord	HP:0001196
10269	ZMPSTE24	Delayed eruption of teeth	HP:0000684
10269	ZMPSTE24	Hypoplasia of teeth	HP:0000685
10269	ZMPSTE24	Submucous cleft hard palate	HP:0000176
10269	ZMPSTE24	Left ventricular hypertrophy	HP:0001712
10269	ZMPSTE24	Calcinosis	HP:0003761
10269	ZMPSTE24	Aplasia/Hypoplasia of the earlobes	HP:0009906
10269	ZMPSTE24	Natal tooth	HP:0000695
10269	ZMPSTE24	Sinus tachycardia	HP:0011703
10269	ZMPSTE24	Hyperpigmentation of the skin	HP:0000953
10269	ZMPSTE24	Congenital pseudoarthrosis of the clavicle	HP:0006585
10269	ZMPSTE24	Abnormal fingertip morphology	HP:0001211
10269	ZMPSTE24	Acanthosis nigricans	HP:0000956
10269	ZMPSTE24	Convex nasal ridge	HP:0000444
10269	ZMPSTE24	Temporomandibular joint ankylosis	HP:0012478
10269	ZMPSTE24	Kyphoscoliosis	HP:0002751
10269	ZMPSTE24	Cyanosis	HP:0000961
10269	ZMPSTE24	Thin bony cortex	HP:0002753
10269	ZMPSTE24	Thin skin	HP:0000963
10269	ZMPSTE24	Carotid artery stenosis	HP:0100546
10269	ZMPSTE24	Aplasia/Hypoplasia involving the nose	HP:0009924
10269	ZMPSTE24	Choanal atresia	HP:0000453
10269	ZMPSTE24	Hypohidrosis	HP:0000966
10269	ZMPSTE24	Osteoarthritis	HP:0002758
10269	ZMPSTE24	Metaphyseal widening	HP:0003016
10269	ZMPSTE24	Short palpebral fissure	HP:0012745
10269	ZMPSTE24	Abnormality of the neck	HP:0000464
10269	ZMPSTE24	Progeroid facial appearance	HP:0005328
10269	ZMPSTE24	Webbed neck	HP:0000465
10269	ZMPSTE24	Prominent forehead	HP:0011220
10269	ZMPSTE24	Nail dystrophy	HP:0008404
10269	ZMPSTE24	Prolonged prothrombin time	HP:0008151
10269	ZMPSTE24	High palate	HP:0000218
10269	ZMPSTE24	Generalized hyperkeratosis	HP:0005595
10269	ZMPSTE24	Abnormality of hair texture	HP:0010719
10269	ZMPSTE24	Short stature	HP:0004322
10269	ZMPSTE24	Prominent superficial blood vessels	HP:0007394
10269	ZMPSTE24	Lipoatrophy	HP:0100578
10269	ZMPSTE24	Ovoid vertebral bodies	HP:0003300
10269	ZMPSTE24	Failure to thrive	HP:0001508
10269	ZMPSTE24	Intrauterine growth retardation	HP:0001511
10269	ZMPSTE24	Thin vermilion border	HP:0000233
10269	ZMPSTE24	Aplasia/Hypoplasia of the eyebrow	HP:0100840
10269	ZMPSTE24	Structural foot deformity	HP:0010219
10269	ZMPSTE24	Decreased skull ossification	HP:0004331
10269	ZMPSTE24	Decreased serum testosterone level	HP:0040171
10269	ZMPSTE24	Dermal atrophy	HP:0004334
10269	ZMPSTE24	Downslanted palpebral fissures	HP:0000494
10269	ZMPSTE24	Hypotrichosis	HP:0001006
10269	ZMPSTE24	Large fontanelles	HP:0000239
10269	ZMPSTE24	Stillbirth	HP:0003826
10269	ZMPSTE24	Arthrogryposis multiplex congenita	HP:0002804
10269	ZMPSTE24	Thin clavicles	HP:0006645
10269	ZMPSTE24	Overtubulated long bones	HP:0006391
10269	ZMPSTE24	Kyphosis	HP:0002808
10269	ZMPSTE24	Telecanthus	HP:0000506
10269	ZMPSTE24	Brittle hair	HP:0002299
10269	ZMPSTE24	Premature rupture of membranes	HP:0001788
10269	ZMPSTE24	Scaling skin	HP:0040189
10269	ZMPSTE24	Hypoplastic nipples	HP:0002557
2077	ERF	Macrocephaly	HP:0000256
2077	ERF	Interstitial pulmonary abnormality	HP:0006530
2077	ERF	Brachydactyly	HP:0001156
2077	ERF	Arnold-Chiari malformation	HP:0002308
2077	ERF	Autosomal dominant inheritance	HP:0000006
2077	ERF	Amblyopia	HP:0000646
2077	ERF	Turricephaly	HP:0000262
2077	ERF	Proptosis	HP:0000520
2077	ERF	Optic atrophy	HP:0000648
2077	ERF	Generalized hypotonia	HP:0001290
2077	ERF	Headache	HP:0002315
2077	ERF	Dolichocephaly	HP:0000268
2077	ERF	Prominent occiput	HP:0000269
2077	ERF	Malar flattening	HP:0000272
2077	ERF	Conductive hearing impairment	HP:0000405
2077	ERF	Retrognathia	HP:0000278
2077	ERF	Midface retrusion	HP:0011800
2077	ERF	Polyhydramnios	HP:0001561
2077	ERF	Downturned corners of mouth	HP:0002714
2077	ERF	Protruding ear	HP:0000411
2077	ERF	Recurrent respiratory infections	HP:0002205
2077	ERF	Hypopigmented skin patches	HP:0001053
2077	ERF	Depressed nasal bridge	HP:0005280
2077	ERF	Cerebellar hypoplasia	HP:0001321
2077	ERF	Respiratory insufficiency	HP:0002093
2077	ERF	Respiratory distress	HP:0002098
2077	ERF	Thick vermilion border	HP:0012471
2077	ERF	Hypertelorism	HP:0000316
2077	ERF	Convex nasal ridge	HP:0000444
2077	ERF	Acanthosis nigricans	HP:0000956
2077	ERF	Multiple suture craniosynostosis	HP:0011324
2077	ERF	Narrow palate	HP:0000189
2077	ERF	Pansynostosis	HP:0011325
2077	ERF	Cognitive impairment	HP:0100543
2077	ERF	Anterior plagiocephaly	HP:0011326
2077	ERF	Posterior plagiocephaly	HP:0011327
2077	ERF	Facial asymmetry	HP:0000324
2077	ERF	Choanal atresia	HP:0000453
2077	ERF	Blepharophimosis	HP:0000581
2077	ERF	Hypoplasia of the maxilla	HP:0000327
2077	ERF	Plagiocephaly	HP:0001357
2077	ERF	Anteverted nares	HP:0000463
2077	ERF	Abnormal facial shape	HP:0001999
2077	ERF	Short columella	HP:0002000
2077	ERF	Craniosynostosis	HP:0001363
2077	ERF	Increased intracranial pressure	HP:0002516
2077	ERF	Prominent forehead	HP:0011220
2077	ERF	Finger syndactyly	HP:0006101
2077	ERF	Frontal bossing	HP:0002007
2077	ERF	Tracheomalacia	HP:0002779
2077	ERF	Lambdoidal craniosynostosis	HP:0004443
2077	ERF	Bronchomalacia	HP:0002780
2077	ERF	Skeletal dysplasia	HP:0002652
2077	ERF	High forehead	HP:0000348
2077	ERF	Flat occiput	HP:0005469
2077	ERF	Stomatocytosis	HP:0004446
2077	ERF	Round ear	HP:0100830
2077	ERF	Limitation of joint mobility	HP:0001376
2077	ERF	Intellectual disability	HP:0001249
2077	ERF	Optic nerve hypoplasia	HP:0000609
2077	ERF	Melanocytic nevus	HP:0000995
2077	ERF	Iris coloboma	HP:0000612
2077	ERF	Muscular hypotonia	HP:0001252
2077	ERF	Strabismus	HP:0000486
2077	ERF	Ectopic posterior pituitary	HP:0011755
2077	ERF	Hydrocephalus	HP:0000238
2077	ERF	Abnormal form of the vertebral bodies	HP:0003312
2077	ERF	Low-set, posteriorly rotated ears	HP:0000368
2077	ERF	Abnormal sacrum morphology	HP:0005107
2077	ERF	Diminished ability to concentrate	HP:0031987
2077	ERF	Brachycephaly	HP:0000248
2077	ERF	Narrow internal auditory canal	HP:0011386
2077	ERF	Telecanthus	HP:0000506
2077	ERF	Ptosis	HP:0000508
2077	ERF	Hypertonia	HP:0001276
2077	ERF	External ear malformation	HP:0008572
2077	ERF	Short nose	HP:0003196
2077	ERF	Conjunctivitis	HP:0000509
2077	ERF	Dimple chin	HP:0010751
83999	KREMEN1	Depressed nasal bridge	HP:0005280
83999	KREMEN1	Thin eyebrow	HP:0045074
83999	KREMEN1	Oligodontia	HP:0000677
83999	KREMEN1	Low anterior hairline	HP:0000294
83999	KREMEN1	Thick vermilion border	HP:0012471
83999	KREMEN1	Autosomal recessive inheritance	HP:0000007
83999	KREMEN1	Hypertelorism	HP:0000316
83999	KREMEN1	Sparse eyelashes	HP:0000653
83999	KREMEN1	Wide nasal bridge	HP:0000431
10273	STUB1	Gaze-evoked nystagmus	HP:0000640
10273	STUB1	Saccadic smooth pursuit	HP:0001152
10273	STUB1	Hypogonadism	HP:0000135
10273	STUB1	Autosomal recessive inheritance	HP:0000007
10273	STUB1	Unsteady gait	HP:0002317
10273	STUB1	Lower limb spasticity	HP:0002061
10273	STUB1	Arachnodactyly	HP:0001166
10273	STUB1	Rigidity	HP:0002063
10273	STUB1	Hyperactive deep tendon reflexes	HP:0006801
10273	STUB1	Oculomotor apraxia	HP:0000657
10273	STUB1	Gait ataxia	HP:0002066
10273	STUB1	Infertility	HP:0000789
10273	STUB1	Limb ataxia	HP:0002070
10273	STUB1	Delayed menarche	HP:0012569
10273	STUB1	Horizontal nystagmus	HP:0000666
10273	STUB1	Adducted thumb	HP:0001181
10273	STUB1	Truncal ataxia	HP:0002078
10273	STUB1	External ophthalmoplegia	HP:0000544
10273	STUB1	Cerebellar hypoplasia	HP:0001321
10273	STUB1	Type I diabetes mellitus	HP:0100651
10273	STUB1	Head tremor	HP:0002346
10273	STUB1	Memory impairment	HP:0002354
10273	STUB1	Difficulty walking	HP:0002355
10273	STUB1	Hypothyroidism	HP:0000821
10273	STUB1	Ankle clonus	HP:0011448
10273	STUB1	Tremor	HP:0001337
10273	STUB1	Alopecia	HP:0001596
10273	STUB1	Cognitive impairment	HP:0100543
10273	STUB1	Pancreatitis	HP:0001733
10273	STUB1	Iridocyclitis	HP:0001094
10273	STUB1	Parietal cortical atrophy	HP:0012104
10273	STUB1	Hand tremor	HP:0002378
10273	STUB1	Corpus callosum atrophy	HP:0007371
10273	STUB1	Hypoplasia of the pons	HP:0012110
10273	STUB1	Impaired proprioception	HP:0010831
10273	STUB1	Abnormal facial shape	HP:0001999
10273	STUB1	Progeroid facial appearance	HP:0005328
10273	STUB1	Retinal atrophy	HP:0001105
10273	STUB1	Speech apraxia	HP:0011098
10273	STUB1	Type II diabetes mellitus	HP:0005978
10273	STUB1	Ophthalmoplegia	HP:0000602
10273	STUB1	Progressive	HP:0003676
10273	STUB1	Dysphagia	HP:0002015
10273	STUB1	Abnormal motor evoked potentials	HP:0012896
10273	STUB1	Seizures	HP:0001250
10273	STUB1	Anxiety	HP:0000739
10273	STUB1	Spasticity	HP:0001257
10273	STUB1	Dysarthria	HP:0001260
10273	STUB1	Oligomenorrhea	HP:0000876
10273	STUB1	Distal amyotrophy	HP:0003693
10273	STUB1	Hearing impairment	HP:0000365
10273	STUB1	Global developmental delay	HP:0001263
10273	STUB1	Glaucoma	HP:0000501
10273	STUB1	Abnormality of the sella turcica	HP:0002679
10273	STUB1	Cerebellar atrophy	HP:0001272
10273	STUB1	Postural instability	HP:0002172
10273	STUB1	Postural tremor	HP:0002174
10273	STUB1	Nystagmus	HP:0000639
10274	STAG1	Feeding difficulties	HP:0011968
10274	STAG1	Intellectual disability	HP:0001249
10274	STAG1	Thin eyebrow	HP:0045074
10274	STAG1	Seizures	HP:0001250
10274	STAG1	Gastroesophageal reflux	HP:0002020
10274	STAG1	Autosomal dominant inheritance	HP:0000006
10274	STAG1	Deeply set eye	HP:0000490
10274	STAG1	Cerebral atrophy	HP:0002059
10274	STAG1	Delayed speech and language development	HP:0000750
10274	STAG1	Global developmental delay	HP:0001263
10280	SIGMAR1	EMG abnormality	HP:0003457
10280	SIGMAR1	Hyperreflexia	HP:0001347
10280	SIGMAR1	Foot dorsiflexor weakness	HP:0009027
10280	SIGMAR1	Autosomal recessive inheritance	HP:0000007
10280	SIGMAR1	Gait disturbance	HP:0001288
10280	SIGMAR1	Abnormality of the bladder	HP:0000014
10280	SIGMAR1	Abnormal upper motor neuron morphology	HP:0002127
10280	SIGMAR1	Pseudobulbar behavioral symptoms	HP:0002193
10280	SIGMAR1	Split hand	HP:0001171
10280	SIGMAR1	Abnormal pyramidal sign	HP:0007256
10280	SIGMAR1	Distal muscle weakness	HP:0002460
10280	SIGMAR1	Progressive	HP:0003676
10280	SIGMAR1	Slow progression	HP:0003677
10280	SIGMAR1	Babinski sign	HP:0003487
10280	SIGMAR1	Pes cavus	HP:0001761
10280	SIGMAR1	Spinal muscular atrophy	HP:0007269
10280	SIGMAR1	Hammertoe	HP:0001765
10280	SIGMAR1	Decreased motor nerve conduction velocity	HP:0003431
10280	SIGMAR1	Spasticity	HP:0001257
10280	SIGMAR1	Muscle weakness	HP:0001324
10280	SIGMAR1	Dysarthria	HP:0001260
10280	SIGMAR1	Distal amyotrophy	HP:0003693
10280	SIGMAR1	Hyporeflexia	HP:0001265
10280	SIGMAR1	Amyotrophic lateral sclerosis	HP:0007354
10280	SIGMAR1	Sensory neuropathy	HP:0000763
10280	SIGMAR1	Abnormal lower motor neuron morphology	HP:0002366
10280	SIGMAR1	Decreased muscle mass	HP:0003199
10283	CWC27	Feeding difficulties	HP:0011968
10283	CWC27	Small nail	HP:0001792
10283	CWC27	Macrocephaly	HP:0000256
10283	CWC27	Short metacarpal	HP:0010049
10283	CWC27	Intellectual disability	HP:0001249
10283	CWC27	Short stature	HP:0004322
10283	CWC27	Brachydactyly	HP:0001156
10283	CWC27	Autosomal recessive inheritance	HP:0000007
10283	CWC27	Renal cyst	HP:0000107
10283	CWC27	Psychomotor retardation	HP:0025356
10283	CWC27	Delayed speech and language development	HP:0000750
10283	CWC27	Downslanted palpebral fissures	HP:0000494
10283	CWC27	Underdeveloped nasal alae	HP:0000430
10283	CWC27	Global developmental delay	HP:0001263
10283	CWC27	Metaphyseal chondrodysplasia	HP:0005871
10283	CWC27	Macrotia	HP:0000400
10283	CWC27	Low-set ears	HP:0000369
10283	CWC27	Craniosynostosis	HP:0001363
10283	CWC27	Horseshoe kidney	HP:0000085
10283	CWC27	Frontal bossing	HP:0002007
10283	CWC27	Short distal phalanx of finger	HP:0009882
10283	CWC27	Micrognathia	HP:0000347
10283	CWC27	Ventricular septal defect	HP:0001629
10283	CWC27	Rod-cone dystrophy	HP:0000510
51244	CCDC174	Open mouth	HP:0000194
51244	CCDC174	Increased variability in muscle fiber diameter	HP:0003557
51244	CCDC174	Strabismus	HP:0000486
51244	CCDC174	Autosomal recessive inheritance	HP:0000007
51244	CCDC174	Neonatal hypotonia	HP:0001319
51244	CCDC174	Myopathic facies	HP:0002058
51244	CCDC174	Dilation of lateral ventricles	HP:0006956
51244	CCDC174	Severe muscular hypotonia	HP:0006829
51244	CCDC174	Delayed speech and language development	HP:0000750
51244	CCDC174	Global developmental delay	HP:0001263
51244	CCDC174	Cranial nerve VI palsy	HP:0006897
51244	CCDC174	Long face	HP:0000276
51244	CCDC174	Decreased fetal movement	HP:0001558
51244	CCDC174	Respiratory insufficiency due to muscle weakness	HP:0002747
51244	CCDC174	Cryptorchidism	HP:0000028
51244	CCDC174	Ventricular septal defect	HP:0001629
51244	CCDC174	Myopathy	HP:0003198
51244	CCDC174	Hypoplasia of the corpus callosum	HP:0002079
10290	SPEG	Bifid uvula	HP:0000193
10290	SPEG	Areflexia	HP:0001284
10290	SPEG	Facial palsy	HP:0010628
10290	SPEG	Facial diplegia	HP:0001349
10290	SPEG	Long fingers	HP:0100807
10290	SPEG	Autosomal recessive inheritance	HP:0000007
10290	SPEG	Hip contracture	HP:0003273
10290	SPEG	Infantile onset	HP:0003593
10290	SPEG	Generalized hypotonia	HP:0001290
10290	SPEG	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
10290	SPEG	Dysphonia	HP:0001618
10290	SPEG	Waddling gait	HP:0002515
10290	SPEG	Long face	HP:0000276
10290	SPEG	Difficulty running	HP:0009046
10290	SPEG	Retrognathia	HP:0000278
10290	SPEG	High palate	HP:0000218
10290	SPEG	Ophthalmoplegia	HP:0000602
10290	SPEG	Type 1 muscle fiber predominance	HP:0003803
10290	SPEG	Protruding ear	HP:0000411
10290	SPEG	Micrognathia	HP:0000347
10290	SPEG	Difficulty climbing stairs	HP:0003551
10290	SPEG	Narrow mouth	HP:0000160
10290	SPEG	Pes cavus	HP:0001761
10290	SPEG	Talipes equinovarus	HP:0001762
10290	SPEG	Centrally nucleated skeletal muscle fibers	HP:0003687
10290	SPEG	Intellectual disability, mild	HP:0001256
10290	SPEG	Hyperlordosis	HP:0003307
10290	SPEG	Scapular winging	HP:0003691
10290	SPEG	Dysarthria	HP:0001260
10290	SPEG	Dilated cardiomyopathy	HP:0001644
10290	SPEG	Respiratory insufficiency	HP:0002093
10290	SPEG	Severe muscular hypotonia	HP:0006829
10290	SPEG	Delayed speech and language development	HP:0000750
10290	SPEG	Left ventricular hypertrophy	HP:0001712
10290	SPEG	Generalized amyotrophy	HP:0003700
10290	SPEG	Abnormal heart valve morphology	HP:0001654
10290	SPEG	Motor delay	HP:0001270
10290	SPEG	Progressive muscle weakness	HP:0003323
10290	SPEG	Gowers sign	HP:0003391
10290	SPEG	Axial muscle weakness	HP:0003327
92211	CDHR1	Abnormal electroretinogram	HP:0000512
92211	CDHR1	Hyperreflexia	HP:0001347
92211	CDHR1	Cataract	HP:0000518
92211	CDHR1	Hypogonadism	HP:0000135
92211	CDHR1	Autosomal recessive inheritance	HP:0000007
92211	CDHR1	Optic atrophy	HP:0000648
92211	CDHR1	Hyperinsulinemia	HP:0000842
92211	CDHR1	Anteverted nares	HP:0000463
92211	CDHR1	Progressive visual loss	HP:0000529
92211	CDHR1	Conductive hearing impairment	HP:0000405
92211	CDHR1	Nyctalopia	HP:0000662
92211	CDHR1	Abnormality of retinal pigmentation	HP:0007703
92211	CDHR1	Sensorineural hearing impairment	HP:0000407
92211	CDHR1	Ophthalmoplegia	HP:0000602
92211	CDHR1	Type II diabetes mellitus	HP:0005978
92211	CDHR1	Atypical scarring of skin	HP:0000987
92211	CDHR1	Hypoplasia of penis	HP:0008736
92211	CDHR1	Intellectual disability	HP:0001249
92211	CDHR1	Abnormal testis morphology	HP:0000035
92211	CDHR1	Cone/cone-rod dystrophy	HP:0000548
92211	CDHR1	Photophobia	HP:0000613
92211	CDHR1	Color vision defect	HP:0000551
92211	CDHR1	Obesity	HP:0001513
92211	CDHR1	Blindness	HP:0000618
92211	CDHR1	Abnormal retinal vascular morphology	HP:0008046
92211	CDHR1	Wide nasal bridge	HP:0000431
92211	CDHR1	Keratoconus	HP:0000563
92211	CDHR1	Glaucoma	HP:0000501
92211	CDHR1	Visual impairment	HP:0000505
92211	CDHR1	Progressive night blindness	HP:0007675
92211	CDHR1	Rod-cone dystrophy	HP:0000510
92211	CDHR1	Nystagmus	HP:0000639
51251	NT5C3A	Hemolytic anemia	HP:0001878
51251	NT5C3A	Autosomal recessive inheritance	HP:0000007
51251	NT5C3A	Hemoglobinuria	HP:0003641
2099	ESR1	Increased circulating gonadotropin level	HP:0000837
2099	ESR1	Absence of pubertal development	HP:0008197
2099	ESR1	Autosomal dominant inheritance	HP:0000006
2099	ESR1	Autosomal recessive inheritance	HP:0000007
2099	ESR1	Hyperinsulinemia	HP:0000842
2099	ESR1	Overgrowth	HP:0001548
2099	ESR1	Hypoplasia of the uterus	HP:0000013
2099	ESR1	Coronary artery atherosclerosis	HP:0001677
2099	ESR1	Episodic abdominal pain	HP:0002574
2099	ESR1	Heterogeneous	HP:0001425
2099	ESR1	Primary amenorrhea	HP:0000786
2099	ESR1	Somatic mutation	HP:0001428
2099	ESR1	Marked delay in bone age	HP:0003799
2099	ESR1	Glucose intolerance	HP:0001952
2099	ESR1	Enlarged polycystic ovaries	HP:0008675
2099	ESR1	Acne	HP:0001061
2099	ESR1	Delayed epiphyseal ossification	HP:0002663
2099	ESR1	Osteopenia	HP:0000938
2099	ESR1	Osteoporosis	HP:0000939
2099	ESR1	Breast hypoplasia	HP:0003187
2099	ESR1	Elevated tissue non-specific alkaline phosphatase	HP:0010679
2099	ESR1	Breast carcinoma	HP:0003002
2099	ESR1	Absence of secondary sex characteristics	HP:0008187
2099	ESR1	Acanthosis nigricans	HP:0000956
2099	ESR1	Delayed skeletal maturation	HP:0002750
2100	ESR2	Elevated circulating luteinizing hormone level	HP:0011969
2100	ESR2	Primary amenorrhea	HP:0000786
2100	ESR2	Elevated circulating follicle stimulating hormone level	HP:0008232
2100	ESR2	Hypoplastic labia majora	HP:0000059
10293	TRAIP	Absent earlobe	HP:0000387
10293	TRAIP	Prematurely aged appearance	HP:0007495
10293	TRAIP	Autosomal recessive inheritance	HP:0000007
10293	TRAIP	Ventriculomegaly	HP:0002119
10293	TRAIP	Congenital diaphragmatic hernia	HP:0000776
10293	TRAIP	Recurrent urinary tract infections	HP:0000010
10293	TRAIP	Reduced number of teeth	HP:0009804
10293	TRAIP	Mild global developmental delay	HP:0011342
10293	TRAIP	Scaphocephaly	HP:0030799
10293	TRAIP	Narrow face	HP:0000275
10293	TRAIP	Craniosynostosis	HP:0001363
10293	TRAIP	Cone-shaped epiphysis	HP:0010579
10293	TRAIP	Long face	HP:0000276
10293	TRAIP	Decreased fetal movement	HP:0001558
10293	TRAIP	Simplified gyral pattern	HP:0009879
10293	TRAIP	Clitoral hypertrophy	HP:0008665
10293	TRAIP	Polyhydramnios	HP:0001561
10293	TRAIP	Scoliosis	HP:0002650
10293	TRAIP	Micrognathia	HP:0000347
10293	TRAIP	Protruding ear	HP:0000411
10293	TRAIP	Ventricular septal defect	HP:0001629
10293	TRAIP	Recurrent respiratory infections	HP:0002205
10293	TRAIP	Atrial septal defect	HP:0001631
10293	TRAIP	Intellectual disability	HP:0001249
10293	TRAIP	Sparse scalp hair	HP:0002209
10293	TRAIP	Short stature	HP:0004322
10293	TRAIP	Talipes equinovarus	HP:0001762
10293	TRAIP	Cachexia	HP:0004326
10293	TRAIP	Hypertrichosis	HP:0000998
10293	TRAIP	Intrauterine growth retardation	HP:0001511
10293	TRAIP	Hip dysplasia	HP:0001385
10293	TRAIP	Abnormality of dental enamel	HP:0000682
10293	TRAIP	Pulmonary artery hypoplasia	HP:0004971
10293	TRAIP	Downslanted palpebral fissures	HP:0000494
10293	TRAIP	Small for gestational age	HP:0001518
10293	TRAIP	Global developmental delay	HP:0001263
10293	TRAIP	Clinodactyly of the 5th finger	HP:0004209
10293	TRAIP	Asthma	HP:0002099
10293	TRAIP	Glaucoma	HP:0000501
10293	TRAIP	Convex nasal ridge	HP:0000444
10293	TRAIP	Microcephaly	HP:0000252
10293	TRAIP	Sandal gap	HP:0001852
10293	TRAIP	Joint hyperflexibility	HP:0005692
10293	TRAIP	Delayed skeletal maturation	HP:0002750
10293	TRAIP	Cognitive impairment	HP:0100543
10293	TRAIP	Ambiguous genitalia	HP:0000062
10295	BCKDK	Intellectual disability	HP:0001249
10295	BCKDK	Seizures	HP:0001250
10295	BCKDK	Abnormal circulating branched chain amino acid concentration	HP:0010892
10295	BCKDK	Autism	HP:0000717
2103	ESRRB	Autosomal recessive inheritance	HP:0000007
2103	ESRRB	Sensorineural hearing impairment	HP:0000407
51256	TBC1D7	Macrocephaly	HP:0000256
51256	TBC1D7	Intellectual disability	HP:0001249
51256	TBC1D7	Myopia	HP:0000545
51256	TBC1D7	Patellar subluxation	HP:0010499
51256	TBC1D7	Abnormality of the musculature	HP:0003011
51256	TBC1D7	Astigmatism	HP:0000483
51256	TBC1D7	Psychosis	HP:0000709
51256	TBC1D7	Autosomal recessive inheritance	HP:0000007
51256	TBC1D7	Optic atrophy	HP:0000648
51256	TBC1D7	Megalencephaly	HP:0001355
51256	TBC1D7	Depressivity	HP:0000716
51256	TBC1D7	Delayed speech and language development	HP:0000750
51256	TBC1D7	Scaphocephaly	HP:0030799
51256	TBC1D7	Global developmental delay	HP:0001263
51256	TBC1D7	Mandibular prognathia	HP:0000303
51256	TBC1D7	Adrenal medullary hypoplasia	HP:0008239
51256	TBC1D7	Broad forehead	HP:0000337
51256	TBC1D7	Pointed chin	HP:0000307
51256	TBC1D7	Coarse facial features	HP:0000280
10297	APC2	Macrocephaly	HP:0000256
10297	APC2	Relative macrocephaly	HP:0004482
10297	APC2	Abnormal cardiac septum morphology	HP:0001671
10297	APC2	Autosomal recessive inheritance	HP:0000007
10297	APC2	Dolichocephaly	HP:0000268
10297	APC2	Advanced eruption of teeth	HP:0006288
10297	APC2	Macrotia	HP:0000400
10297	APC2	Sacrococcygeal teratoma	HP:0030736
10297	APC2	Long face	HP:0000276
10297	APC2	Conductive hearing impairment	HP:0000405
10297	APC2	Neoplasm of the nervous system	HP:0004375
10297	APC2	Hypoglycemia	HP:0001943
10297	APC2	Coarse facial features	HP:0000280
10297	APC2	Genu varum	HP:0002970
10297	APC2	Cryptorchidism	HP:0000028
10297	APC2	Poor speech	HP:0002465
10297	APC2	Feeding difficulties in infancy	HP:0008872
10297	APC2	Genu valgum	HP:0002857
10297	APC2	Mandibular prognathia	HP:0000303
10297	APC2	Hypospadias	HP:0000047
10297	APC2	EEG abnormality	HP:0002353
10297	APC2	Precocious puberty	HP:0000826
10297	APC2	Multiple renal cysts	HP:0005562
10297	APC2	Hypertelorism	HP:0000316
10297	APC2	Prominent nose	HP:0000448
10297	APC2	Hyperreflexia	HP:0001347
10297	APC2	Behavioral abnormality	HP:0000708
10297	APC2	Ventriculomegaly	HP:0002119
10297	APC2	Depressed nasal ridge	HP:0000457
10297	APC2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
10297	APC2	Renal duplication	HP:0000075
10297	APC2	Vesicoureteral reflux	HP:0000076
10297	APC2	Anteverted nares	HP:0000463
10297	APC2	Abnormal fingernail morphology	HP:0001231
10297	APC2	Craniosynostosis	HP:0001363
10297	APC2	Prominent forehead	HP:0011220
10297	APC2	Frontal bossing	HP:0002007
10297	APC2	High palate	HP:0000218
10297	APC2	Scoliosis	HP:0002650
10297	APC2	Micrognathia	HP:0000347
10297	APC2	High forehead	HP:0000348
10297	APC2	Congenital hip dislocation	HP:0001374
10297	APC2	Intellectual disability	HP:0001249
10297	APC2	Seizures	HP:0001250
10297	APC2	Abnormality of immune system physiology	HP:0010978
10297	APC2	Tall stature	HP:0000098
10297	APC2	Muscular hypotonia	HP:0001252
10297	APC2	Strabismus	HP:0000486
10297	APC2	Obesity	HP:0001513
10297	APC2	Patent ductus arteriosus	HP:0001643
10297	APC2	Downslanted palpebral fissures	HP:0000494
10297	APC2	Global developmental delay	HP:0001263
10297	APC2	Accelerated skeletal maturation	HP:0005616
10297	APC2	Hyperactivity	HP:0000752
51259	TMEM216	Macrocephaly	HP:0000256
51259	TMEM216	Central Y-shaped metacarpal	HP:0006145
51259	TMEM216	Multicystic kidney dysplasia	HP:0000003
51259	TMEM216	Cataract	HP:0000518
51259	TMEM216	Autosomal recessive inheritance	HP:0000007
51259	TMEM216	Gait disturbance	HP:0001288
51259	TMEM216	Generalized hypotonia	HP:0001290
51259	TMEM216	Dolichocephaly	HP:0000268
51259	TMEM216	Anophthalmia	HP:0000528
51259	TMEM216	Anencephaly	HP:0002323
51259	TMEM216	Abnormal chorioretinal morphology	HP:0000532
51259	TMEM216	Long face	HP:0000276
51259	TMEM216	Dandy-Walker malformation	HP:0001305
51259	TMEM216	Oligohydramnios	HP:0001562
51259	TMEM216	Hamartoma of tongue	HP:0011802
51259	TMEM216	Cryptorchidism	HP:0000028
51259	TMEM216	Epicanthus	HP:0000286
51259	TMEM216	Agenesis of cerebellar vermis	HP:0002335
51259	TMEM216	Encephalocele	HP:0002084
51259	TMEM216	Male pseudohermaphroditism	HP:0000037
51259	TMEM216	Full cheeks	HP:0000293
51259	TMEM216	Foot polydactyly	HP:0001829
51259	TMEM216	Postaxial foot polydactyly	HP:0001830
51259	TMEM216	Cerebellar vermis hypoplasia	HP:0001320
51259	TMEM216	Retinal dystrophy	HP:0000556
51259	TMEM216	Cystic liver disease	HP:0006706
51259	TMEM216	Hypoplastic male external genitalia	HP:0000050
51259	TMEM216	Congenital hepatic fibrosis	HP:0002612
51259	TMEM216	Esotropia	HP:0000565
51259	TMEM216	Aplasia/Hypoplasia of the tongue	HP:0010295
51259	TMEM216	Chorioretinal coloboma	HP:0000567
51259	TMEM216	Central apnea	HP:0002871
51259	TMEM216	Microphthalmia	HP:0000568
51259	TMEM216	Apnea	HP:0002104
51259	TMEM216	Tremor	HP:0001337
51259	TMEM216	Abnormal saccadic eye movements	HP:0000570
51259	TMEM216	Hypertelorism	HP:0000316
51259	TMEM216	Episodic tachypnea	HP:0002876
51259	TMEM216	Hypoplasia of the brainstem	HP:0002365
51259	TMEM216	Urethral atresia	HP:0000068
51259	TMEM216	Biparietal narrowing	HP:0004422
51259	TMEM216	Ureteral duplication	HP:0000073
51259	TMEM216	Optic nerve coloboma	HP:0000588
51259	TMEM216	Renal insufficiency	HP:0000083
51259	TMEM216	Finger clinodactyly	HP:0040019
51259	TMEM216	Sloping forehead	HP:0000340
51259	TMEM216	Enlarged fossa interpeduncularis	HP:0100951
51259	TMEM216	Bowing of the long bones	HP:0006487
51259	TMEM216	Nephronophthisis	HP:0000090
51259	TMEM216	Scoliosis	HP:0002650
51259	TMEM216	Micrognathia	HP:0000347
51259	TMEM216	Talipes	HP:0001883
51259	TMEM216	Abnormal heart morphology	HP:0001627
51259	TMEM216	Impaired smooth pursuit	HP:0007772
51259	TMEM216	Abnormality of the hypothalamus-pituitary axis	HP:0000864
51259	TMEM216	Thickened superior cerebellar peduncle	HP:0002404
51259	TMEM216	Iris coloboma	HP:0000612
51259	TMEM216	Renal agenesis	HP:0000104
51259	TMEM216	Abnormality of ocular smooth pursuit	HP:0000617
51259	TMEM216	Blindness	HP:0000618
51259	TMEM216	Renal cyst	HP:0000107
51259	TMEM216	Low-set, posteriorly rotated ears	HP:0000368
51259	TMEM216	Nephropathy	HP:0000112
51259	TMEM216	Low-set ears	HP:0000369
51259	TMEM216	Molar tooth sign on MRI	HP:0002419
51259	TMEM216	Aplasia/Hypoplasia of the iris	HP:0008053
51259	TMEM216	Midline notch of upper alveolar ridge	HP:0009084
51259	TMEM216	Hypoplasia of olfactory tract	HP:0007036
51259	TMEM216	Pancreatic fibrosis	HP:0100732
51259	TMEM216	Nystagmus	HP:0000639
51259	TMEM216	Bile duct proliferation	HP:0001408
51259	TMEM216	Meningocele	HP:0002435
51259	TMEM216	Brachydactyly	HP:0001156
51259	TMEM216	Sclerocornea	HP:0000647
51259	TMEM216	Syndactyly	HP:0001159
51259	TMEM216	Optic atrophy	HP:0000648
51259	TMEM216	Hand polydactyly	HP:0001161
51259	TMEM216	Postaxial hand polydactyly	HP:0001162
51259	TMEM216	Hypothalamic hamartoma	HP:0002444
51259	TMEM216	Heterogeneous	HP:0001425
51259	TMEM216	Oculomotor apraxia	HP:0000657
51259	TMEM216	Dysgenesis of the cerebellar vermis	HP:0002195
51259	TMEM216	Conductive hearing impairment	HP:0000405
51259	TMEM216	Preaxial hand polydactyly	HP:0001177
51259	TMEM216	Elongated superior cerebellar peduncle	HP:0011933
51259	TMEM216	Situs inversus totalis	HP:0001696
51259	TMEM216	Depressed nasal bridge	HP:0005280
51259	TMEM216	Preaxial polydactyly	HP:0100258
51259	TMEM216	Mesoaxial polydactyly	HP:0100260
51259	TMEM216	Feeding difficulties in infancy	HP:0008872
51259	TMEM216	Prominent nasal bridge	HP:0000426
51259	TMEM216	Cleft palate	HP:0000175
51259	TMEM216	Abnormal renal physiology	HP:0012211
51259	TMEM216	Lobulated tongue	HP:0000180
51259	TMEM216	Abnormal oral frenulum morphology	HP:0000190
51259	TMEM216	Tongue nodules	HP:0000199
51259	TMEM216	Broad nasal tip	HP:0000455
51259	TMEM216	Pancreatic cysts	HP:0001737
51259	TMEM216	Depressed nasal ridge	HP:0000457
51259	TMEM216	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
51259	TMEM216	Polydactyly	HP:0010442
51259	TMEM216	Aganglionic megacolon	HP:0002251
51259	TMEM216	Brainstem dysplasia	HP:0002508
51259	TMEM216	Anteverted nares	HP:0000463
51259	TMEM216	Asplenia	HP:0001746
51259	TMEM216	Accessory spleen	HP:0001747
51259	TMEM216	Lobar holoprosencephaly	HP:0006870
51259	TMEM216	Frontal bossing	HP:0002007
51259	TMEM216	Abnormality of cardiovascular system morphology	HP:0030680
51259	TMEM216	Autistic behavior	HP:0000729
51259	TMEM216	High palate	HP:0000218
51259	TMEM216	True hermaphroditism	HP:0010459
51259	TMEM216	Furrowed tongue	HP:0000221
51259	TMEM216	Abnormality of neuronal migration	HP:0002269
51259	TMEM216	Abnormality of the foot	HP:0001760
51259	TMEM216	Intellectual disability	HP:0001249
51259	TMEM216	Microcornea	HP:0000482
51259	TMEM216	Seizures	HP:0001250
51259	TMEM216	Short stature	HP:0004322
51259	TMEM216	Ataxia	HP:0001251
51259	TMEM216	Muscular hypotonia	HP:0001252
51259	TMEM216	Failure to thrive	HP:0001508
51259	TMEM216	Tachypnea	HP:0002789
51259	TMEM216	Neonatal breathing dysregulation	HP:0002790
51259	TMEM216	Strabismus	HP:0000486
51259	TMEM216	Intrauterine growth retardation	HP:0001511
51259	TMEM216	Hydrocephalus	HP:0000238
51259	TMEM216	Global developmental delay	HP:0001263
51259	TMEM216	Bilateral cryptorchidism	HP:0008689
51259	TMEM216	Abnormal corpus callosum morphology	HP:0001273
51259	TMEM216	Visual impairment	HP:0000505
51259	TMEM216	Highly arched eyebrow	HP:0002553
51259	TMEM216	Microcephaly	HP:0000252
51259	TMEM216	Ptosis	HP:0000508
10300	KATNB1	Seizures	HP:0001250
10300	KATNB1	Hyperreflexia	HP:0001347
10300	KATNB1	Autosomal recessive inheritance	HP:0000007
10300	KATNB1	Ventriculomegaly	HP:0002119
10300	KATNB1	Spasticity	HP:0001257
10300	KATNB1	Infantile onset	HP:0003593
10300	KATNB1	Gray matter heterotopia	HP:0002282
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	Simplified gyral pattern	HP:0009879
10300	KATNB1	Partial agenesis of the corpus callosum	HP:0001338
10300	KATNB1	Microcephaly	HP:0000252
10300	KATNB1	Cognitive impairment	HP:0100543
10300	KATNB1	Hypoplasia of the corpus callosum	HP:0002079
2108	ETFA	Hepatomegaly	HP:0002240
2108	ETFA	Macrocephaly	HP:0000256
2108	ETFA	Wide anterior fontanel	HP:0000260
2108	ETFA	Glycosuria	HP:0003076
2108	ETFA	Developmental cataract	HP:0000519
2108	ETFA	Autosomal recessive inheritance	HP:0000007
2108	ETFA	Glutaric acidemia	HP:0003530
2108	ETFA	Glutaric aciduria	HP:0003150
2108	ETFA	Abnormality of the genital system	HP:0000078
2108	ETFA	Abnormal facial shape	HP:0001999
2108	ETFA	Ethylmalonic aciduria	HP:0003219
2108	ETFA	Pachygyria	HP:0001302
2108	ETFA	Hypoglycemia	HP:0001943
2108	ETFA	High forehead	HP:0000348
2108	ETFA	Generalized aminoaciduria	HP:0002909
2108	ETFA	Vomiting	HP:0002013
2108	ETFA	Depressed nasal bridge	HP:0005280
2108	ETFA	Nausea	HP:0002018
2108	ETFA	Neonatal death	HP:0003811
2108	ETFA	Renal cortical cysts	HP:0000803
2108	ETFA	Muscular hypotonia	HP:0001252
2108	ETFA	Pulmonary hypoplasia	HP:0002089
2108	ETFA	Muscle weakness	HP:0001324
2108	ETFA	Hypoglycemic coma	HP:0001325
2108	ETFA	Polycystic kidney dysplasia	HP:0000113
2108	ETFA	Respiratory distress	HP:0002098
2108	ETFA	Proximal tubulopathy	HP:0000114
2108	ETFA	Hepatic steatosis	HP:0001397
2108	ETFA	Hepatic periportal necrosis	HP:0002614
2108	ETFA	Jaundice	HP:0000952
2108	ETFA	Abnormality of the pinna	HP:0000377
2108	ETFA	Telecanthus	HP:0000506
2108	ETFA	Gliosis	HP:0002171
2108	ETFA	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	HP:0003647
2109	ETFB	Hepatomegaly	HP:0002240
2109	ETFB	Macrocephaly	HP:0000256
2109	ETFB	Wide anterior fontanel	HP:0000260
2109	ETFB	Glycosuria	HP:0003076
2109	ETFB	Developmental cataract	HP:0000519
2109	ETFB	Autosomal recessive inheritance	HP:0000007
2109	ETFB	Glutaric acidemia	HP:0003530
2109	ETFB	Glutaric aciduria	HP:0003150
2109	ETFB	Abnormality of the genital system	HP:0000078
2109	ETFB	Abnormal facial shape	HP:0001999
2109	ETFB	Ethylmalonic aciduria	HP:0003219
2109	ETFB	Pachygyria	HP:0001302
2109	ETFB	Hypoglycemia	HP:0001943
2109	ETFB	High forehead	HP:0000348
2109	ETFB	Generalized aminoaciduria	HP:0002909
2109	ETFB	Vomiting	HP:0002013
2109	ETFB	Depressed nasal bridge	HP:0005280
2109	ETFB	Nausea	HP:0002018
2109	ETFB	Neonatal death	HP:0003811
2109	ETFB	Renal cortical cysts	HP:0000803
2109	ETFB	Muscular hypotonia	HP:0001252
2109	ETFB	Pulmonary hypoplasia	HP:0002089
2109	ETFB	Muscle weakness	HP:0001324
2109	ETFB	Hypoglycemic coma	HP:0001325
2109	ETFB	Polycystic kidney dysplasia	HP:0000113
2109	ETFB	Respiratory distress	HP:0002098
2109	ETFB	Proximal tubulopathy	HP:0000114
2109	ETFB	Hepatic steatosis	HP:0001397
2109	ETFB	Hepatic periportal necrosis	HP:0002614
2109	ETFB	Jaundice	HP:0000952
2109	ETFB	Abnormality of the pinna	HP:0000377
2109	ETFB	Telecanthus	HP:0000506
2109	ETFB	Gliosis	HP:0002171
2109	ETFB	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	HP:0003647
346171	ZFP57	Hyperglycemia	HP:0003074
346171	ZFP57	Glycosuria	HP:0003076
346171	ZFP57	Steatorrhea	HP:0002570
346171	ZFP57	Apraxia	HP:0002186
346171	ZFP57	Generalized myoclonic seizures	HP:0002123
346171	ZFP57	Abnormality of the pancreatic islet cells	HP:0006476
346171	ZFP57	Bilateral ptosis	HP:0001488
346171	ZFP57	Generalized tonic-clonic seizures	HP:0002069
346171	ZFP57	Dehydration	HP:0001944
346171	ZFP57	Downturned corners of mouth	HP:0002714
346171	ZFP57	Abnormal heart morphology	HP:0001627
346171	ZFP57	Weight loss	HP:0001824
346171	ZFP57	Intellectual disability	HP:0001249
346171	ZFP57	Hypovolemia	HP:0011106
346171	ZFP57	Failure to thrive	HP:0001508
346171	ZFP57	Muscular hypotonia	HP:0001252
346171	ZFP57	Intrauterine growth retardation	HP:0001511
346171	ZFP57	Ketonuria	HP:0002919
346171	ZFP57	Coma	HP:0001259
346171	ZFP57	Hearing impairment	HP:0000365
346171	ZFP57	Prominent metopic ridge	HP:0005487
346171	ZFP57	Global developmental delay	HP:0001263
346171	ZFP57	Arthrogryposis multiplex congenita	HP:0002804
346171	ZFP57	Severe failure to thrive	HP:0001525
346171	ZFP57	Motor delay	HP:0001270
346171	ZFP57	Contractures of the joints of the lower limbs	HP:0005750
346171	ZFP57	Renal tubular dysfunction	HP:0000124
346171	ZFP57	Transient neonatal diabetes mellitus	HP:0008255
2110	ETFDH	Hepatomegaly	HP:0002240
2110	ETFDH	Macrocephaly	HP:0000256
2110	ETFDH	Wide anterior fontanel	HP:0000260
2110	ETFDH	Glycosuria	HP:0003076
2110	ETFDH	Developmental cataract	HP:0000519
2110	ETFDH	Autosomal recessive inheritance	HP:0000007
2110	ETFDH	Glutaric acidemia	HP:0003530
2110	ETFDH	Glutaric aciduria	HP:0003150
2110	ETFDH	Abnormality of the genital system	HP:0000078
2110	ETFDH	Abnormal facial shape	HP:0001999
2110	ETFDH	Ethylmalonic aciduria	HP:0003219
2110	ETFDH	Pachygyria	HP:0001302
2110	ETFDH	Hypoglycemia	HP:0001943
2110	ETFDH	High forehead	HP:0000348
2110	ETFDH	Generalized aminoaciduria	HP:0002909
2110	ETFDH	Vomiting	HP:0002013
2110	ETFDH	Depressed nasal bridge	HP:0005280
2110	ETFDH	Nausea	HP:0002018
2110	ETFDH	Neonatal death	HP:0003811
2110	ETFDH	Renal cortical cysts	HP:0000803
2110	ETFDH	Muscular hypotonia	HP:0001252
2110	ETFDH	Pulmonary hypoplasia	HP:0002089
2110	ETFDH	Muscle weakness	HP:0001324
2110	ETFDH	Hypoglycemic coma	HP:0001325
2110	ETFDH	Polycystic kidney dysplasia	HP:0000113
2110	ETFDH	Respiratory distress	HP:0002098
2110	ETFDH	Proximal tubulopathy	HP:0000114
2110	ETFDH	Hepatic steatosis	HP:0001397
2110	ETFDH	Hepatic periportal necrosis	HP:0002614
2110	ETFDH	Jaundice	HP:0000952
2110	ETFDH	Abnormality of the pinna	HP:0000377
2110	ETFDH	Telecanthus	HP:0000506
2110	ETFDH	Gliosis	HP:0002171
2110	ETFDH	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	HP:0003647
124997	WDR81	Skeletal muscle atrophy	HP:0003202
124997	WDR81	Hyperreflexia	HP:0001347
124997	WDR81	Cataract	HP:0000518
124997	WDR81	Autosomal recessive inheritance	HP:0000007
124997	WDR81	Atrophy of the dentate nucleus	HP:0007047
124997	WDR81	Gait disturbance	HP:0001288
124997	WDR81	Infantile onset	HP:0003593
124997	WDR81	Abnormality of the neck	HP:0000464
124997	WDR81	Holoprosencephaly	HP:0001360
124997	WDR81	Hydranencephaly	HP:0002324
124997	WDR81	Aplasia of the inferior half of the cerebellar vermis	HP:0007063
124997	WDR81	Coarse facial features	HP:0000280
124997	WDR81	Dandy-Walker malformation	HP:0001305
124997	WDR81	Dysdiadochokinesis	HP:0002075
124997	WDR81	Brain atrophy	HP:0012444
124997	WDR81	Dysmetria	HP:0001310
124997	WDR81	Truncal ataxia	HP:0002078
124997	WDR81	Hypoplasia of the corpus callosum	HP:0002079
124997	WDR81	Intellectual disability	HP:0001249
124997	WDR81	Short stature	HP:0004322
124997	WDR81	Seizures	HP:0001250
124997	WDR81	Ataxia	HP:0001251
124997	WDR81	Muscular hypotonia	HP:0001252
124997	WDR81	Strabismus	HP:0000486
124997	WDR81	Intellectual disability, progressive	HP:0006887
124997	WDR81	Cerebellar hypoplasia	HP:0001321
124997	WDR81	Global brain atrophy	HP:0002283
124997	WDR81	Dysarthria	HP:0001260
124997	WDR81	Short foot	HP:0001773
124997	WDR81	Delayed speech and language development	HP:0000750
124997	WDR81	Hydrocephalus	HP:0000238
124997	WDR81	Global developmental delay	HP:0001263
124997	WDR81	Hirsutism	HP:0001007
124997	WDR81	Intellectual disability, severe	HP:0010864
124997	WDR81	Hyporeflexia	HP:0001265
124997	WDR81	Small hand	HP:0200055
124997	WDR81	Cerebral palsy	HP:0100021
124997	WDR81	Short palm	HP:0004279
124997	WDR81	Cerebellar atrophy	HP:0001272
124997	WDR81	Abnormality of vision	HP:0000504
124997	WDR81	Tremor	HP:0001337
124997	WDR81	Congenital onset	HP:0003577
124997	WDR81	Thoracic kyphosis	HP:0002942
124997	WDR81	Thoracic scoliosis	HP:0002943
10309	CCNO	Infertility	HP:0000789
10309	CCNO	Autosomal recessive inheritance	HP:0000007
10309	CCNO	Ciliary dyskinesia	HP:0012265
10309	CCNO	Progressive	HP:0003676
10309	CCNO	Recurrent respiratory infections	HP:0002205
10309	CCNO	Bronchiectasis	HP:0002110
10309	CCNO	Atelectasis	HP:0100750
10312	TCIRG1	Macrocephaly	HP:0000256
10312	TCIRG1	Tetany	HP:0001281
10312	TCIRG1	Abnormal blistering of the skin	HP:0008066
10312	TCIRG1	Otitis media	HP:0000388
10312	TCIRG1	Abnormality of the ribs	HP:0000772
10312	TCIRG1	Facial palsy	HP:0010628
10312	TCIRG1	Narrow chest	HP:0000774
10312	TCIRG1	Autosomal recessive inheritance	HP:0000007
10312	TCIRG1	Optic atrophy	HP:0000648
10312	TCIRG1	Abnormality of visual evoked potentials	HP:0000649
10312	TCIRG1	Sandwich appearance of vertebral bodies	HP:0004618
10312	TCIRG1	Heterogeneous	HP:0001425
10312	TCIRG1	Abnormality of temperature regulation	HP:0004370
10312	TCIRG1	Lymphadenopathy	HP:0002716
10312	TCIRG1	Recurrent respiratory infections	HP:0002205
10312	TCIRG1	Carious teeth	HP:0000670
10312	TCIRG1	Cranial nerve paralysis	HP:0006824
10312	TCIRG1	Facial paralysis	HP:0007209
10312	TCIRG1	Abnormality of epiphysis morphology	HP:0005930
10312	TCIRG1	Pulmonary arterial hypertension	HP:0002092
10312	TCIRG1	Delayed eruption of teeth	HP:0000684
10312	TCIRG1	Opsoclonus	HP:0010543
10312	TCIRG1	Abnormality of the metaphysis	HP:0000944
10312	TCIRG1	Premature loss of primary teeth	HP:0006323
10312	TCIRG1	Apnea	HP:0002104
10312	TCIRG1	Tremor	HP:0001337
10312	TCIRG1	Pulmonary artery stenosis	HP:0004415
10312	TCIRG1	Hepatomegaly	HP:0002240
10312	TCIRG1	Osteomyelitis	HP:0002754
10312	TCIRG1	Pathologic fracture	HP:0002756
10312	TCIRG1	Recurrent fractures	HP:0002757
10312	TCIRG1	Flared metaphysis	HP:0003015
10312	TCIRG1	Splenomegaly	HP:0001744
10312	TCIRG1	Chronic rhinitis	HP:0002257
10312	TCIRG1	Bruising susceptibility	HP:0000978
10312	TCIRG1	Craniosynostosis	HP:0001363
10312	TCIRG1	Elevated alkaline phosphatase	HP:0003155
10312	TCIRG1	Pallor	HP:0000980
10312	TCIRG1	Pancytopenia	HP:0001876
10312	TCIRG1	Hypocalcemia	HP:0002901
10312	TCIRG1	Ophthalmoparesis	HP:0000597
10312	TCIRG1	Bowing of the long bones	HP:0006487
10312	TCIRG1	Frontal bossing	HP:0002007
10312	TCIRG1	Bone pain	HP:0002653
10312	TCIRG1	Abnormality of hair texture	HP:0010719
10312	TCIRG1	Seizures	HP:0001250
10312	TCIRG1	Hypophosphatemia	HP:0002148
10312	TCIRG1	Failure to thrive	HP:0001508
10312	TCIRG1	Growth delay	HP:0001510
10312	TCIRG1	Abnormal pulmonary valve morphology	HP:0001641
10312	TCIRG1	Blindness	HP:0000618
10312	TCIRG1	Hearing impairment	HP:0000365
10312	TCIRG1	Hydrocephalus	HP:0000238
10312	TCIRG1	Anemia	HP:0001903
10312	TCIRG1	Visual impairment	HP:0000505
10312	TCIRG1	Osteopetrosis	HP:0011002
10312	TCIRG1	Coxa vara	HP:0002812
10312	TCIRG1	Reduced bone mineral density	HP:0004349
10312	TCIRG1	Nystagmus	HP:0000639
10312	TCIRG1	Optic nerve compression	HP:0007807
2120	ETV6	Thrombocytopenia	HP:0001873
2120	ETV6	Bruising susceptibility	HP:0000978
2120	ETV6	Neutropenia	HP:0001875
2120	ETV6	Somatic mutation	HP:0001428
2120	ETV6	Epistaxis	HP:0000421
2120	ETV6	Autosomal dominant inheritance	HP:0000006
2120	ETV6	Petechiae	HP:0000967
2120	ETV6	Acute myeloid leukemia	HP:0004808
2120	ETV6	Anemia	HP:0001903
2121	EVC	Pectus carinatum	HP:0000768
2121	EVC	Small nail	HP:0001792
2121	EVC	Brachydactyly	HP:0001156
2121	EVC	Short ribs	HP:0000773
2121	EVC	Narrow chest	HP:0000774
2121	EVC	Autosomal dominant inheritance	HP:0000006
2121	EVC	Autosomal recessive inheritance	HP:0000007
2121	EVC	Hypoplastic toenails	HP:0001800
2121	EVC	Abnormality of female internal genitalia	HP:0000008
2121	EVC	Hand polydactyly	HP:0001161
2121	EVC	Postaxial hand polydactyly	HP:0001162
2121	EVC	Abnormality of the antihelix	HP:0009738
2121	EVC	Prominent antihelix	HP:0000395
2121	EVC	Advanced eruption of teeth	HP:0006288
2121	EVC	Cone-shaped epiphyses of phalanges 2 to 5	HP:0006035
2121	EVC	Cubitus valgus	HP:0002967
2121	EVC	Dandy-Walker malformation	HP:0001305
2121	EVC	Short distal phalanx of finger	HP:0009882
2121	EVC	Cryptorchidism	HP:0000028
2121	EVC	Hypodontia	HP:0000668
2121	EVC	Situs inversus totalis	HP:0001696
2121	EVC	Foot polydactyly	HP:0001829
2121	EVC	Postaxial foot polydactyly	HP:0001830
2121	EVC	Epispadias	HP:0000039
2121	EVC	Micromelia	HP:0002983
2121	EVC	Atrioventricular canal defect	HP:0006695
2121	EVC	Genu valgum	HP:0002857
2121	EVC	Single median maxillary incisor	HP:0006315
2121	EVC	Delayed eruption of teeth	HP:0000684
2121	EVC	Common atrium	HP:0011565
2121	EVC	Mild short stature	HP:0003502
2121	EVC	Hypospadias	HP:0000047
2121	EVC	Aplasia/Hypoplasia of the lungs	HP:0006703
2121	EVC	Emphysema	HP:0002097
2121	EVC	Hypoplastic iliac wing	HP:0002866
2121	EVC	Microdontia	HP:0000691
2121	EVC	Abnormal oral mucosa morphology	HP:0011830
2121	EVC	Natal tooth	HP:0000695
2121	EVC	Short palm	HP:0004279
2121	EVC	Synostosis of carpal bones	HP:0005048
2121	EVC	Acute leukemia	HP:0002488
2121	EVC	Abnormality of bone marrow cell morphology	HP:0005561
2121	EVC	Conical incisor	HP:0011065
2121	EVC	Conical tooth	HP:0000698
2121	EVC	Toenail dysplasia	HP:0100797
2121	EVC	Overlapping fingers	HP:0010557
2121	EVC	Abnormal oral frenulum morphology	HP:0000190
2121	EVC	Delayed skeletal maturation	HP:0002750
2121	EVC	Short thorax	HP:0010306
2121	EVC	Ectodermal dysplasia	HP:0000968
2121	EVC	Hydroureter	HP:0000072
2121	EVC	Cleft upper lip	HP:0000204
2121	EVC	Abnormality of the alveolar ridges	HP:0006477
2121	EVC	Abnormal fingernail morphology	HP:0001231
2121	EVC	Short long bone	HP:0003026
2121	EVC	Nail dystrophy	HP:0008404
2121	EVC	Abnormality of pelvic girdle bone morphology	HP:0002644
2121	EVC	Acetabular spurs	HP:0010454
2121	EVC	Facial cleft	HP:0002006
2121	EVC	Neonatal short-limb short stature	HP:0008921
2121	EVC	Capitate-hamate fusion	HP:0001241
2121	EVC	Hypotelorism	HP:0000601
2121	EVC	Ventricular septal defect	HP:0001629
2121	EVC	Atrial septal defect	HP:0001631
2121	EVC	Intellectual disability	HP:0001249
2121	EVC	Talipes equinovarus	HP:0001762
2121	EVC	Abnormal hair quantity	HP:0011362
2121	EVC	Failure to thrive	HP:0001508
2121	EVC	Renal hypoplasia/aplasia	HP:0008678
2121	EVC	Strabismus	HP:0000486
2121	EVC	Intrauterine growth retardation	HP:0001511
2121	EVC	Thin vermilion border	HP:0000233
2121	EVC	Clinodactyly of the 5th finger	HP:0004209
2121	EVC	Nail dysplasia	HP:0002164
2121	EVC	Small hand	HP:0200055
2121	EVC	Abnormal heart valve morphology	HP:0001654
2121	EVC	Horizontal ribs	HP:0000888
2122	MECOM	Hydrocele testis	HP:0000034
2122	MECOM	Autosomal dominant inheritance	HP:0000006
2122	MECOM	Hip dysplasia	HP:0001385
2122	MECOM	Anemia	HP:0001903
2122	MECOM	Thrombocytopenia	HP:0001873
2122	MECOM	Congenital thrombocytopenia	HP:0001905
2122	MECOM	Clinodactyly of the 5th finger	HP:0004209
2122	MECOM	Neutropenia	HP:0001875
2122	MECOM	Finger syndactyly	HP:0006101
2122	MECOM	Sensorineural hearing impairment	HP:0000407
2122	MECOM	Limited pronation/supination of forearm	HP:0006394
2122	MECOM	Amegakaryocytic thrombocytopenia	HP:0004859
2122	MECOM	Overlapping fingers	HP:0010557
2122	MECOM	Radioulnar synostosis	HP:0002974
10319	LAMC3	EEG abnormality	HP:0002353
10319	LAMC3	Generalized tonic-clonic seizures	HP:0002069
10319	LAMC3	Pachygyria	HP:0001302
10319	LAMC3	Autosomal recessive inheritance	HP:0000007
10319	LAMC3	Visual loss	HP:0000572
10319	LAMC3	Polymicrogyria	HP:0002126
10319	LAMC3	Global developmental delay	HP:0001263
10320	IKZF1	Dyspareunia	HP:0030016
10320	IKZF1	Abnormal blistering of the skin	HP:0008066
10320	IKZF1	Excessive salivation	HP:0003781
10320	IKZF1	Pancreatitis	HP:0001733
10320	IKZF1	Autosomal dominant inheritance	HP:0000006
10320	IKZF1	Sepsis	HP:0100806
10320	IKZF1	Thrombocytopenia	HP:0001873
10320	IKZF1	Abnormality of neutrophils	HP:0001874
10320	IKZF1	Renal insufficiency	HP:0000083
10320	IKZF1	Pancytopenia	HP:0001876
10320	IKZF1	Corneal erosion	HP:0200020
10320	IKZF1	Decreased antibody level in blood	HP:0004313
10320	IKZF1	Fever	HP:0001945
10320	IKZF1	Acute hepatic failure	HP:0006554
10320	IKZF1	Fatigue	HP:0012378
10320	IKZF1	Abnormality of the urethra	HP:0000795
10320	IKZF1	Recurrent respiratory infections	HP:0002205
10320	IKZF1	Recurrent bacterial infections	HP:0002718
10320	IKZF1	Diarrhea	HP:0002014
10320	IKZF1	Elevated hepatic transaminase	HP:0002910
10320	IKZF1	Erythema	HP:0010783
10320	IKZF1	Dysphagia	HP:0002015
10320	IKZF1	B lymphocytopenia	HP:0010976
10320	IKZF1	Weight loss	HP:0001824
10320	IKZF1	Immunodeficiency	HP:0002721
10320	IKZF1	Nausea and vomiting	HP:0002017
10320	IKZF1	Photophobia	HP:0000613
10320	IKZF1	Abnormal myocardium morphology	HP:0001637
10320	IKZF1	Dysuria	HP:0100518
10320	IKZF1	Hypokalemic metabolic alkalosis	HP:0001960
10320	IKZF1	Restrictive ventilatory defect	HP:0002091
10320	IKZF1	Abdominal pain	HP:0002027
10320	IKZF1	Entropion	HP:0000621
10320	IKZF1	Sudden cardiac death	HP:0001645
10320	IKZF1	Dyspnea	HP:0002094
10320	IKZF1	Anemia	HP:0001903
10320	IKZF1	Incomplete penetrance	HP:0003829
10320	IKZF1	Abnormality of the pleura	HP:0002103
10320	IKZF1	Visual impairment	HP:0000505
10320	IKZF1	Acantholysis	HP:0100792
10320	IKZF1	Myocardial infarction	HP:0001658
10320	IKZF1	Esophageal stricture	HP:0002043
10320	IKZF1	Macule	HP:0012733
10320	IKZF1	Conjunctivitis	HP:0000509
10320	IKZF1	Gastrointestinal hemorrhage	HP:0002239
10320	IKZF1	Cough	HP:0012735
2130	EWSR1	Hepatomegaly	HP:0002240
2130	EWSR1	Nausea and vomiting	HP:0002017
2130	EWSR1	Ileus	HP:0002595
2130	EWSR1	Testicular neoplasm	HP:0010788
2130	EWSR1	Ascites	HP:0001541
2130	EWSR1	Cachexia	HP:0004326
2130	EWSR1	Abdominal distention	HP:0003270
2130	EWSR1	Ovarian neoplasm	HP:0100615
2130	EWSR1	Neoplasm of the central nervous system	HP:0100006
2130	EWSR1	Abdominal pain	HP:0002027
2130	EWSR1	Neoplasm of the pancreas	HP:0002894
2130	EWSR1	Anemia	HP:0001903
2130	EWSR1	Neoplasm of the lung	HP:0100526
2130	EWSR1	Mediastinal lymphadenopathy	HP:0100721
2130	EWSR1	Sarcoma	HP:0100242
2130	EWSR1	Somatic mutation	HP:0001428
2130	EWSR1	Abnormality of the peritoneum	HP:0002585
2130	EWSR1	Ewing sarcoma	HP:0012254
2131	EXT1	Rib exostoses	HP:0000896
2131	EXT1	Brachydactyly	HP:0001156
2131	EXT1	Avascular necrosis	HP:0010885
2131	EXT1	Autosomal dominant inheritance	HP:0000006
2131	EXT1	Autosomal recessive inheritance	HP:0000007
2131	EXT1	Abnormality of femur morphology	HP:0002823
2131	EXT1	Recurrent urinary tract infections	HP:0000010
2131	EXT1	Cervical myelopathy	HP:0002318
2131	EXT1	Synostosis of joints	HP:0100240
2131	EXT1	Conductive hearing impairment	HP:0000405
2131	EXT1	Scapular exostoses	HP:0000918
2131	EXT1	Hemiplegia/hemiparesis	HP:0004374
2131	EXT1	Protruding ear	HP:0000411
2131	EXT1	Abnormality of the skeletal system	HP:0000924
2131	EXT1	Bulbous nose	HP:0000414
2131	EXT1	Aplasia/Hypoplasia of the mandible	HP:0009118
2131	EXT1	Protuberances at ends of long bones	HP:0003105
2131	EXT1	Abnormal pericardium morphology	HP:0001697
2131	EXT1	Sparse scalp hair	HP:0002209
2131	EXT1	Abnormality of the dentition	HP:0000164
2131	EXT1	Juvenile onset	HP:0003621
2131	EXT1	Micromelia	HP:0002983
2131	EXT1	Cranial nerve paralysis	HP:0006824
2131	EXT1	Genu valgum	HP:0002857
2131	EXT1	Radial bowing	HP:0002986
2131	EXT1	Muscle weakness	HP:0001324
2131	EXT1	Abnormal palate morphology	HP:0000174
2131	EXT1	Bilateral single transverse palmar creases	HP:0007598
2131	EXT1	Redundant skin	HP:0001582
2131	EXT1	Wide nasal bridge	HP:0000431
2131	EXT1	Multiple long-bone exostoses	HP:0005039
2131	EXT1	Abnormality of tibia morphology	HP:0002992
2131	EXT1	Abnormality of the metaphysis	HP:0000944
2131	EXT1	Dilatation	HP:0002617
2131	EXT1	Joint hyperflexibility	HP:0005692
2131	EXT1	Increased number of teeth	HP:0011069
2131	EXT1	Delayed skeletal maturation	HP:0002750
2131	EXT1	Thick eyebrow	HP:0000574
2131	EXT1	Short metacarpal	HP:0010049
2131	EXT1	Recurrent fractures	HP:0002757
2131	EXT1	Osteoarthritis	HP:0002758
2131	EXT1	Ventriculomegaly	HP:0002119
2131	EXT1	Thick nasal alae	HP:0009928
2131	EXT1	Multiple exostoses	HP:0002762
2131	EXT1	Pelvic bone exostoses	HP:0003276
2131	EXT1	Vesicoureteral reflux	HP:0000076
2131	EXT1	Peripheral nerve compression	HP:0003406
2131	EXT1	Hypoplasia of the ulna	HP:0003022
2131	EXT1	Anteverted nares	HP:0000463
2131	EXT1	Deep philtrum	HP:0002002
2131	EXT1	Long philtrum	HP:0000343
2131	EXT1	Abnormal pyramidal sign	HP:0007256
2131	EXT1	Abnormality of cardiovascular system morphology	HP:0030680
2131	EXT1	Scoliosis	HP:0002650
2131	EXT1	Thin upper lip vermilion	HP:0000219
2131	EXT1	Talipes	HP:0001883
2131	EXT1	Bone pain	HP:0002653
2131	EXT1	Joint dislocation	HP:0001373
2131	EXT1	Abnormality of the foot	HP:0001760
2131	EXT1	Intellectual disability	HP:0001249
2131	EXT1	Short stature	HP:0004322
2131	EXT1	Elbow dislocation	HP:0003042
2131	EXT1	Failure to thrive	HP:0001508
2131	EXT1	Muscular hypotonia	HP:0001252
2131	EXT1	Hip dysplasia	HP:0001385
2131	EXT1	Chondrosarcoma	HP:0006765
2131	EXT1	Osteolysis	HP:0002797
2131	EXT1	Avascular necrosis of the capital femoral epiphysis	HP:0005743
2131	EXT1	Low-set, posteriorly rotated ears	HP:0000368
2131	EXT1	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
2131	EXT1	Abnormality of the humerus	HP:0003063
2131	EXT1	Madelung deformity	HP:0003067
2131	EXT1	Coxa vara	HP:0002812
2131	EXT1	Madelung-like forearm deformities	HP:0003068
2131	EXT1	Microcephaly	HP:0000252
2132	EXT2	Macrocephaly	HP:0000256
2132	EXT2	Rib exostoses	HP:0000896
2132	EXT2	Avascular necrosis	HP:0010885
2132	EXT2	Autosomal dominant inheritance	HP:0000006
2132	EXT2	Abnormality of femur morphology	HP:0002823
2132	EXT2	Autosomal recessive inheritance	HP:0000007
2132	EXT2	Parietal foramina	HP:0002697
2132	EXT2	Infantile onset	HP:0003593
2132	EXT2	Generalized hypotonia	HP:0001290
2132	EXT2	Cervical myelopathy	HP:0002318
2132	EXT2	Synostosis of joints	HP:0100240
2132	EXT2	Hemiplegia/hemiparesis	HP:0004374
2132	EXT2	Scapular exostoses	HP:0000918
2132	EXT2	Coarse facial features	HP:0000280
2132	EXT2	Downturned corners of mouth	HP:0002714
2132	EXT2	Cryptorchidism	HP:0000028
2132	EXT2	Epicanthus	HP:0000286
2132	EXT2	Abnormal pericardium morphology	HP:0001697
2132	EXT2	Poor speech	HP:0002465
2132	EXT2	Protuberances at ends of long bones	HP:0003105
2132	EXT2	Abnormality of the dentition	HP:0000164
2132	EXT2	Juvenile onset	HP:0003621
2132	EXT2	Micromelia	HP:0002983
2132	EXT2	Exostoses	HP:0100777
2132	EXT2	Cranial nerve paralysis	HP:0006824
2132	EXT2	Genu valgum	HP:0002857
2132	EXT2	Prominent nasal bridge	HP:0000426
2132	EXT2	Radial bowing	HP:0002986
2132	EXT2	Muscle weakness	HP:0001324
2132	EXT2	Underdeveloped nasal alae	HP:0000430
2132	EXT2	Abnormality of tibia morphology	HP:0002992
2132	EXT2	Abnormality of the metaphysis	HP:0000944
2132	EXT2	Depressed nasal tip	HP:0000437
2132	EXT2	Hypothyroidism	HP:0000821
2132	EXT2	Overlapping toe	HP:0001845
2132	EXT2	Micropenis	HP:0000054
2132	EXT2	Hypertension	HP:0000822
2132	EXT2	Delayed puberty	HP:0000823
2132	EXT2	Dilatation	HP:0002617
2132	EXT2	Hypertelorism	HP:0000316
2132	EXT2	Short metacarpal	HP:0010049
2132	EXT2	Short philtrum	HP:0000322
2132	EXT2	Recurrent fractures	HP:0002757
2132	EXT2	Osteoarthritis	HP:0002758
2132	EXT2	Broad nasal tip	HP:0000455
2132	EXT2	Multiple exostoses	HP:0002762
2132	EXT2	Pelvic bone exostoses	HP:0003276
2132	EXT2	Hypoplasia of the ulna	HP:0003022
2132	EXT2	Hypoplastic philtrum	HP:0005326
2132	EXT2	Peripheral nerve compression	HP:0003406
2132	EXT2	Anteverted nares	HP:0000463
2132	EXT2	Abnormal pyramidal sign	HP:0007256
2132	EXT2	Scoliosis	HP:0002650
2132	EXT2	Micrognathia	HP:0000347
2132	EXT2	Bone pain	HP:0002653
2132	EXT2	Ventricular septal defect	HP:0001629
2132	EXT2	Intellectual disability	HP:0001249
2132	EXT2	Seizures	HP:0001250
2132	EXT2	Short stature	HP:0004322
2132	EXT2	Elbow dislocation	HP:0003042
2132	EXT2	Constipation	HP:0002019
2132	EXT2	Failure to thrive	HP:0001508
2132	EXT2	Gastroesophageal reflux	HP:0002020
2132	EXT2	Strabismus	HP:0000486
2132	EXT2	Nephroblastoma	HP:0002667
2132	EXT2	Decreased skull ossification	HP:0004331
2132	EXT2	Osteolysis	HP:0002797
2132	EXT2	Chondrosarcoma	HP:0006765
2132	EXT2	Anemia	HP:0001903
2132	EXT2	Global developmental delay	HP:0001263
2132	EXT2	Abnormality of the humerus	HP:0003063
2132	EXT2	Brachycephaly	HP:0000248
2132	EXT2	Madelung deformity	HP:0003067
2132	EXT2	Madelung-like forearm deformities	HP:0003068
2132	EXT2	Coxa vara	HP:0002812
2132	EXT2	Nystagmus	HP:0000639
10324	KLHL41	Skeletal muscle atrophy	HP:0003202
10324	KLHL41	EMG: myopathic abnormalities	HP:0003458
10324	KLHL41	Areflexia	HP:0001284
10324	KLHL41	Narrow chest	HP:0000774
10324	KLHL41	Abnormality of the diaphragm	HP:0000775
10324	KLHL41	Autosomal recessive inheritance	HP:0000007
10324	KLHL41	Clumsiness	HP:0002312
10324	KLHL41	Generalized hypotonia	HP:0001290
10324	KLHL41	Neck flexor weakness	HP:0003722
10324	KLHL41	Myopathic facies	HP:0002058
10324	KLHL41	Hip dislocation	HP:0002827
10324	KLHL41	High, narrow palate	HP:0002705
10324	KLHL41	Bradykinesia	HP:0002067
10324	KLHL41	Narrow face	HP:0000275
10324	KLHL41	Neuromuscular dysphagia	HP:0002068
10324	KLHL41	Long face	HP:0000276
10324	KLHL41	Decreased fetal movement	HP:0001558
10324	KLHL41	Polyhydramnios	HP:0001561
10324	KLHL41	Genu varum	HP:0002970
10324	KLHL41	Adducted thumb	HP:0001181
10324	KLHL41	Elevated serum creatine kinase	HP:0003236
10324	KLHL41	Neonatal hypotonia	HP:0001319
10324	KLHL41	Pulmonary hypoplasia	HP:0002089
10324	KLHL41	Genu valgum	HP:0002857
10324	KLHL41	Muscle weakness	HP:0001324
10324	KLHL41	Severe muscular hypotonia	HP:0006829
10324	KLHL41	Respiratory insufficiency	HP:0002093
10324	KLHL41	Hypospadias	HP:0000047
10324	KLHL41	Cleft palate	HP:0000175
10324	KLHL41	Bulbar signs	HP:0002483
10324	KLHL41	Difficulty walking	HP:0002355
10324	KLHL41	Micropenis	HP:0000054
10324	KLHL41	Respiratory insufficiency due to muscle weakness	HP:0002747
10324	KLHL41	Hypertelorism	HP:0000316
10324	KLHL41	Nocturnal hypoventilation	HP:0002877
10324	KLHL41	Respiratory failure	HP:0002878
10324	KLHL41	Feeding difficulties	HP:0011968
10324	KLHL41	Increased connective tissue	HP:0009025
10324	KLHL41	Foot dorsiflexor weakness	HP:0009027
10324	KLHL41	Facial diplegia	HP:0001349
10324	KLHL41	Fetal akinesia sequence	HP:0001989
10324	KLHL41	Hypokinesia	HP:0002375
10324	KLHL41	Neck muscle weakness	HP:0000467
10324	KLHL41	Waddling gait	HP:0002515
10324	KLHL41	Premature birth	HP:0001622
10324	KLHL41	Nemaline bodies	HP:0003798
10324	KLHL41	Short neck	HP:0000470
10324	KLHL41	Breech presentation	HP:0001623
10324	KLHL41	Long philtrum	HP:0000343
10324	KLHL41	Edema of the dorsum of hands	HP:0007514
10324	KLHL41	Ophthalmoplegia	HP:0000602
10324	KLHL41	Exercise intolerance	HP:0003546
10324	KLHL41	High palate	HP:0000218
10324	KLHL41	Scoliosis	HP:0002650
10324	KLHL41	Type 1 muscle fiber predominance	HP:0003803
10324	KLHL41	Micrognathia	HP:0000347
10324	KLHL41	Multiple prenatal fractures	HP:0005855
10324	KLHL41	Dysphagia	HP:0002015
10324	KLHL41	Generalized limb muscle atrophy	HP:0009055
10324	KLHL41	Muscle stiffness	HP:0003552
10324	KLHL41	Pes cavus	HP:0001761
10324	KLHL41	Increased muscle lipid content	HP:0009058
10324	KLHL41	Increased variability in muscle fiber diameter	HP:0003557
10324	KLHL41	Cardiomyopathy	HP:0001638
10324	KLHL41	Reduced vital capacity	HP:0002792
10324	KLHL41	Limb muscle weakness	HP:0003690
10324	KLHL41	Spinal rigidity	HP:0003306
10324	KLHL41	Scapular winging	HP:0003691
10324	KLHL41	Hyperlordosis	HP:0003307
10324	KLHL41	Large fontanelles	HP:0000239
10324	KLHL41	Fatigable weakness of bulbar muscles	HP:0030192
10324	KLHL41	Low-set ears	HP:0000369
10324	KLHL41	Hyporeflexia	HP:0001265
10324	KLHL41	Thin ribs	HP:0000883
10324	KLHL41	Arthrogryposis multiplex congenita	HP:0002804
10324	KLHL41	Mildly elevated creatine kinase	HP:0008180
10324	KLHL41	Fatigable weakness of respiratory muscles	HP:0030196
10324	KLHL41	Variable expressivity	HP:0003828
10324	KLHL41	Motor delay	HP:0001270
10324	KLHL41	Fatigable weakness of distal limb muscles	HP:0030198
10324	KLHL41	Kyphosis	HP:0002808
10324	KLHL41	Fatiguable weakness of proximal limb muscles	HP:0030200
10324	KLHL41	Ptosis	HP:0000508
10324	KLHL41	Generalized muscle weakness	HP:0003324
10324	KLHL41	Slender build	HP:0001533
10324	KLHL41	Limb-girdle muscle weakness	HP:0003325
10324	KLHL41	Abnormality of the thorax	HP:0000765
10324	KLHL41	Myopathy	HP:0003198
10324	KLHL41	Axial muscle weakness	HP:0003327
10324	KLHL41	Pectus excavatum	HP:0000767
2137	EXTL3	Delayed ossification of carpal bones	HP:0001216
2137	EXTL3	Prominent nose	HP:0000448
2137	EXTL3	Brachydactyly	HP:0001156
2137	EXTL3	Broad nasal tip	HP:0000455
2137	EXTL3	Autosomal recessive inheritance	HP:0000007
2137	EXTL3	Dislocated radial head	HP:0003083
2137	EXTL3	Cervical instability	HP:0008462
2137	EXTL3	Hypoplasia of the capital femoral epiphysis	HP:0003090
2137	EXTL3	Eosinophilia	HP:0001880
2137	EXTL3	Coarse facial features	HP:0000280
2137	EXTL3	Decreased antibody level in blood	HP:0004313
2137	EXTL3	Platyspondyly	HP:0000926
2137	EXTL3	Metaphyseal dysplasia	HP:0100255
2137	EXTL3	Recurrent infections	HP:0002719
2137	EXTL3	Depressed nasal bridge	HP:0005280
2137	EXTL3	Epiphyseal dysplasia	HP:0002656
2137	EXTL3	Lymphopenia	HP:0001888
2137	EXTL3	Intellectual disability	HP:0001249
2137	EXTL3	Seizures	HP:0001250
2137	EXTL3	Full cheeks	HP:0000293
2137	EXTL3	Anal atresia	HP:0002023
2137	EXTL3	Muscular hypotonia of the trunk	HP:0008936
2137	EXTL3	Disproportionate short stature	HP:0003498
2137	EXTL3	Narrow greater sacrosciatic notches	HP:0003375
2137	EXTL3	Coxa valga	HP:0002673
2137	EXTL3	Motor delay	HP:0001270
2137	EXTL3	Single transverse palmar crease	HP:0000954
2137	EXTL3	Erythroderma	HP:0001019
2137	EXTL3	Hypertelorism	HP:0000316
2137	EXTL3	Progressive microcephaly	HP:0000253
2137	EXTL3	Pectus excavatum	HP:0000767
2137	EXTL3	Kyphoscoliosis	HP:0002751
2137	EXTL3	Hepatic cysts	HP:0001407
10329	RXYLT1	Macrocephaly	HP:0000256
10329	RXYLT1	Bifid uvula	HP:0000193
10329	RXYLT1	Skeletal muscle atrophy	HP:0003202
10329	RXYLT1	Areflexia	HP:0001284
10329	RXYLT1	Gonadal dysgenesis	HP:0000133
10329	RXYLT1	Cataract	HP:0000518
10329	RXYLT1	Autosomal recessive inheritance	HP:0000007
10329	RXYLT1	Optic atrophy	HP:0000648
10329	RXYLT1	Metatarsus valgus	HP:0010508
10329	RXYLT1	Polymicrogyria	HP:0002126
10329	RXYLT1	Anophthalmia	HP:0000528
10329	RXYLT1	Abnormal circulating creatine kinase concentration	HP:0040081
10329	RXYLT1	Corneal opacity	HP:0007957
10329	RXYLT1	Pachygyria	HP:0001302
10329	RXYLT1	Dandy-Walker malformation	HP:0001305
10329	RXYLT1	Protruding ear	HP:0000411
10329	RXYLT1	Cryptorchidism	HP:0000028
10329	RXYLT1	Type II lissencephaly	HP:0007260
10329	RXYLT1	Retinal detachment	HP:0000541
10329	RXYLT1	Hypoplasia of penis	HP:0008736
10329	RXYLT1	Intellectual disability	HP:0001249
10329	RXYLT1	Seizures	HP:0001250
10329	RXYLT1	Microcornea	HP:0000482
10329	RXYLT1	Iris coloboma	HP:0000612
10329	RXYLT1	Muscular hypotonia	HP:0001252
10329	RXYLT1	Retinal dysplasia	HP:0007973
10329	RXYLT1	Posteriorly rotated ears	HP:0000358
10329	RXYLT1	Muscular dystrophy	HP:0003560
10329	RXYLT1	Cerebellar hypoplasia	HP:0001321
10329	RXYLT1	Retinal dystrophy	HP:0000556
10329	RXYLT1	Muscle weakness	HP:0001324
10329	RXYLT1	Hydrocephalus	HP:0000238
10329	RXYLT1	Global developmental delay	HP:0001263
10329	RXYLT1	Abnormal aldolase level	HP:0012400
10329	RXYLT1	Abnormal lactate dehydrogenase activity	HP:0045040
10329	RXYLT1	Specific learning disability	HP:0001328
10329	RXYLT1	Submucous cleft hard palate	HP:0000176
10329	RXYLT1	Low-set ears	HP:0000369
10329	RXYLT1	Hyporeflexia	HP:0001265
10329	RXYLT1	Absent septum pellucidum	HP:0001331
10329	RXYLT1	Chorioretinal dysplasia	HP:0007731
10329	RXYLT1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
10329	RXYLT1	Glaucoma	HP:0000501
10329	RXYLT1	Microphthalmia	HP:0000568
10329	RXYLT1	Cerebellar dysplasia	HP:0007033
10329	RXYLT1	Agenesis of corpus callosum	HP:0001274
10329	RXYLT1	Macrogyria	HP:0007227
10329	RXYLT1	Microcephaly	HP:0000252
2138	EYA1	Preauricular skin tag	HP:0000384
2138	EYA1	Multicystic kidney dysplasia	HP:0000003
2138	EYA1	Facial palsy	HP:0010628
2138	EYA1	Autosomal dominant inheritance	HP:0000006
2138	EYA1	Abnormal renal collecting system morphology	HP:0004742
2138	EYA1	Intestinal malrotation	HP:0002566
2138	EYA1	Abnormality of the antihelix	HP:0009738
2138	EYA1	Hypoplasia of the cochlea	HP:0008586
2138	EYA1	Abnormality of the cerebrum	HP:0002060
2138	EYA1	Macrotia	HP:0000400
2138	EYA1	Heterogeneous	HP:0001425
2138	EYA1	Stenosis of the external auditory canal	HP:0000402
2138	EYA1	Narrow face	HP:0000275
2138	EYA1	Long face	HP:0000276
2138	EYA1	Conductive hearing impairment	HP:0000405
2138	EYA1	Retrognathia	HP:0000278
2138	EYA1	Sensorineural hearing impairment	HP:0000407
2138	EYA1	Mixed hearing impairment	HP:0000410
2138	EYA1	Protruding ear	HP:0000411
2138	EYA1	Atresia of the external auditory canal	HP:0000413
2138	EYA1	Renal steatosis	HP:0000799
2138	EYA1	Depressed nasal bridge	HP:0005280
2138	EYA1	Morphological abnormality of the middle ear	HP:0008609
2138	EYA1	Full cheeks	HP:0000293
2138	EYA1	Lip pit	HP:0100267
2138	EYA1	Cleft palate	HP:0000175
2138	EYA1	Gustatory lacrimation	HP:0100274
2138	EYA1	Microdontia	HP:0000691
2138	EYA1	Abnormal dermatoglyphics	HP:0007477
2138	EYA1	Delayed skeletal maturation	HP:0002750
2138	EYA1	Bifid uvula	HP:0000193
2138	EYA1	Hyperreflexia	HP:0001347
2138	EYA1	Branchial fistula	HP:0009795
2138	EYA1	Facial asymmetry	HP:0000324
2138	EYA1	Branchial cyst	HP:0009796
2138	EYA1	Cholesteatoma	HP:0009797
2138	EYA1	Euthyroid goiter	HP:0009798
2138	EYA1	Ureteropelvic junction obstruction	HP:0000074
2138	EYA1	Narrow nose	HP:0000460
2138	EYA1	Vesicoureteral reflux	HP:0000076
2138	EYA1	Anteverted nares	HP:0000463
2138	EYA1	Renal insufficiency	HP:0000083
2138	EYA1	Down-sloping shoulders	HP:0200021
2138	EYA1	Overbite	HP:0011094
2138	EYA1	Long neck	HP:0000472
2138	EYA1	Abnormal lacrimal duct morphology	HP:0011481
2138	EYA1	High palate	HP:0000218
2138	EYA1	Micrognathia	HP:0000347
2138	EYA1	Congenital hip dislocation	HP:0001374
2138	EYA1	Intellectual disability	HP:0001249
2138	EYA1	Short stature	HP:0004322
2138	EYA1	Abnormality of the middle ear ossicles	HP:0004452
2138	EYA1	Renal hypoplasia/aplasia	HP:0008678
2138	EYA1	Abnormal nasolacrimal system morphology	HP:0000614
2138	EYA1	Microtia	HP:0008551
2138	EYA1	Intellectual disability, mild	HP:0001256
2138	EYA1	Renal malrotation	HP:0004712
2138	EYA1	Renal agenesis	HP:0000104
2138	EYA1	Dilatated internal auditory canal	HP:0004458
2138	EYA1	Cochlear malformation	HP:0008554
2138	EYA1	Scapular winging	HP:0003691
2138	EYA1	Hearing impairment	HP:0000365
2138	EYA1	Renal dysplasia	HP:0000110
2138	EYA1	Global developmental delay	HP:0001263
2138	EYA1	Polycystic kidney dysplasia	HP:0000113
2138	EYA1	Low-set ears	HP:0000369
2138	EYA1	Preauricular pit	HP:0004467
2138	EYA1	Variable expressivity	HP:0003828
2138	EYA1	Lacrimal duct aplasia	HP:0007925
2138	EYA1	Incomplete penetrance	HP:0003829
2138	EYA1	Neurological speech impairment	HP:0002167
2138	EYA1	Lacrimation abnormality	HP:0000632
2138	EYA1	Incomplete partition of the cochlea type II	HP:0000376
2138	EYA1	Abnormality of the clavicle	HP:0000889
2138	EYA1	Cupped ear	HP:0000378
2138	EYA1	Hypertonia	HP:0001276
2138	EYA1	External ear malformation	HP:0008572
2138	EYA1	Enlarged cochlear aqueduct	HP:0011388
2138	EYA1	Hydronephrosis	HP:0000126
2138	EYA1	Lacrimal duct stenosis	HP:0007678
84059	ADGRV1	Abnormal electroretinogram	HP:0000512
84059	ADGRV1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
84059	ADGRV1	Abnormality of dental color	HP:0011073
84059	ADGRV1	Generalized tonic seizures	HP:0010818
84059	ADGRV1	Atonic seizures	HP:0010819
84059	ADGRV1	Febrile seizures	HP:0002373
84059	ADGRV1	Cataract	HP:0000518
84059	ADGRV1	Autosomal dominant inheritance	HP:0000006
84059	ADGRV1	Childhood onset	HP:0011463
84059	ADGRV1	Autosomal recessive inheritance	HP:0000007
84059	ADGRV1	Cerebral cortical atrophy	HP:0002120
84059	ADGRV1	Infantile onset	HP:0003593
84059	ADGRV1	Depressivity	HP:0000716
84059	ADGRV1	Congenital sensorineural hearing impairment	HP:0008527
84059	ADGRV1	Schizophrenia	HP:0100753
84059	ADGRV1	Heterogeneous	HP:0001425
84059	ADGRV1	Generalized tonic-clonic seizures	HP:0002069
84059	ADGRV1	Nyctalopia	HP:0000662
84059	ADGRV1	Sensorineural hearing impairment	HP:0000407
84059	ADGRV1	Hemianopia	HP:0012377
84059	ADGRV1	Carious teeth	HP:0000670
84059	ADGRV1	Myopia	HP:0000545
84059	ADGRV1	Hallucinations	HP:0000738
84059	ADGRV1	Anxiety	HP:0000739
84059	ADGRV1	Ataxia	HP:0001251
84059	ADGRV1	Abnormality of dental enamel	HP:0000682
84059	ADGRV1	Iris hypopigmentation	HP:0007730
84059	ADGRV1	Microdontia	HP:0000691
84059	ADGRV1	Visual loss	HP:0000572
84059	ADGRV1	Subcortical cerebral atrophy	HP:0012157
84059	ADGRV1	Rod-cone dystrophy	HP:0000510
84059	ADGRV1	Nystagmus	HP:0000639
84059	ADGRV1	Scotoma	HP:0000575
84061	MAGT1	Immunodeficiency	HP:0002721
84061	MAGT1	X-linked inheritance	HP:0001417
84061	MAGT1	Lymphoma	HP:0002665
84061	MAGT1	Decreased T cell activation	HP:0005419
84061	MAGT1	Recurrent viral infections	HP:0004429
84061	MAGT1	Decreased proportion of CD4-positive T cells	HP:0005407
51293	CD320	Autosomal recessive inheritance	HP:0000007
51293	CD320	Methylmalonic aciduria	HP:0012120
51294	PCDH12	Hyperreflexia	HP:0001347
51294	PCDH12	Dystonia	HP:0001332
51294	PCDH12	Autosomal recessive inheritance	HP:0000007
51294	PCDH12	Muscular hypotonia of the trunk	HP:0008936
51294	PCDH12	Infantile onset	HP:0003593
51294	PCDH12	Generalized myoclonic seizures	HP:0002123
51294	PCDH12	Intellectual disability, profound	HP:0002187
51294	PCDH12	Postnatal microcephaly	HP:0005484
51294	PCDH12	Microcephaly	HP:0000252
51294	PCDH12	Spastic tetraplegia	HP:0002510
51294	PCDH12	Global developmental delay	HP:0001263
84062	DTNBP1	Bruising susceptibility	HP:0000978
84062	DTNBP1	Ocular albinism	HP:0001107
84062	DTNBP1	Impaired platelet aggregation	HP:0003540
84062	DTNBP1	Epistaxis	HP:0000421
84062	DTNBP1	Autosomal recessive inheritance	HP:0000007
84062	DTNBP1	Albinism	HP:0001022
84062	DTNBP1	Nystagmus	HP:0000639
84062	DTNBP1	Reduced visual acuity	HP:0007663
2146	EZH2	Macrocephaly	HP:0000256
2146	EZH2	Joint contracture of the hand	HP:0009473
2146	EZH2	Umbilical hernia	HP:0001537
2146	EZH2	Clinodactyly	HP:0030084
2146	EZH2	Diastasis recti	HP:0001540
2146	EZH2	Short ribs	HP:0000773
2146	EZH2	Autosomal dominant inheritance	HP:0000006
2146	EZH2	Sparse hair	HP:0008070
2146	EZH2	Hypoplastic toenails	HP:0001800
2146	EZH2	Generalized hypotonia	HP:0001290
2146	EZH2	Camptodactyly of finger	HP:0100490
2146	EZH2	Macrotia	HP:0000400
2146	EZH2	Flared femoral metaphysis	HP:0002834
2146	EZH2	Deep-set nails	HP:0001814
2146	EZH2	Retrognathia	HP:0000278
2146	EZH2	Inguinal hernia	HP:0000023
2146	EZH2	Thin nail	HP:0001816
2146	EZH2	Large hands	HP:0001176
2146	EZH2	Cryptorchidism	HP:0000028
2146	EZH2	Epicanthus	HP:0000286
2146	EZH2	Depressed nasal bridge	HP:0005280
2146	EZH2	Hypoplasia of penis	HP:0008736
2146	EZH2	Hydrocele testis	HP:0000034
2146	EZH2	Fine hair	HP:0002213
2146	EZH2	Broad thumb	HP:0011304
2146	EZH2	Feeding difficulties in infancy	HP:0008872
2146	EZH2	Dilation of lateral ventricles	HP:0006956
2146	EZH2	Redundant skin	HP:0001582
2146	EZH2	Mandibular prognathia	HP:0000303
2146	EZH2	Metatarsus adductus	HP:0001840
2146	EZH2	Abnormality of the metaphysis	HP:0000944
2146	EZH2	Hypoplastic iliac wing	HP:0002866
2146	EZH2	Absent septum pellucidum	HP:0001331
2146	EZH2	Overlapping toe	HP:0001845
2146	EZH2	Round face	HP:0000311
2146	EZH2	Calcaneovalgus deformity	HP:0001848
2146	EZH2	Hypertelorism	HP:0000316
2146	EZH2	Abnormally low-pitched voice	HP:0010300
2146	EZH2	Prominent fingertip pads	HP:0001212
2146	EZH2	Joint hyperflexibility	HP:0005692
2146	EZH2	Sandal gap	HP:0001852
2146	EZH2	Dysharmonic bone age	HP:0200000
2146	EZH2	Behavioral abnormality	HP:0000708
2146	EZH2	Slurred speech	HP:0001350
2146	EZH2	Flared humeral metaphysis	HP:0003911
2146	EZH2	Hoarse voice	HP:0001609
2146	EZH2	Cutis laxa	HP:0000973
2146	EZH2	Abnormal fingernail morphology	HP:0001231
2146	EZH2	Short fourth metatarsal	HP:0004689
2146	EZH2	Broad forehead	HP:0000337
2146	EZH2	Deep philtrum	HP:0002002
2146	EZH2	Finger syndactyly	HP:0006101
2146	EZH2	Long philtrum	HP:0000343
2146	EZH2	Abnormality of cardiovascular system morphology	HP:0030680
2146	EZH2	Scoliosis	HP:0002650
2146	EZH2	Micrognathia	HP:0000347
2146	EZH2	Intellectual disability	HP:0001249
2146	EZH2	Camptodactyly	HP:0012385
2146	EZH2	Pes cavus	HP:0001761
2146	EZH2	Limited elbow extension	HP:0001377
2146	EZH2	Talipes equinovarus	HP:0001762
2146	EZH2	Seizures	HP:0001250
2146	EZH2	Tall stature	HP:0000098
2146	EZH2	Muscular hypotonia	HP:0001252
2146	EZH2	Strabismus	HP:0000486
2146	EZH2	Spasticity	HP:0001257
2146	EZH2	Broad foot	HP:0001769
2146	EZH2	Joint stiffness	HP:0001387
2146	EZH2	Dysarthria	HP:0001260
2146	EZH2	Delayed speech and language development	HP:0000750
2146	EZH2	Downslanted palpebral fissures	HP:0000494
2146	EZH2	Global developmental delay	HP:0001263
2146	EZH2	Accelerated skeletal maturation	HP:0005616
2146	EZH2	Low-set, posteriorly rotated ears	HP:0000368
2146	EZH2	Coxa valga	HP:0002673
2146	EZH2	Inverted nipples	HP:0003186
2146	EZH2	Kyphosis	HP:0002808
2146	EZH2	Radial deviation of finger	HP:0009466
2146	EZH2	Limited knee extension	HP:0003066
2146	EZH2	Hypertonia	HP:0001276
2146	EZH2	Dimple chin	HP:0010751
2147	F2	Gingival bleeding	HP:0000225
2147	F2	Deep venous thrombosis	HP:0002625
2147	F2	Prolonged bleeding time	HP:0003010
2147	F2	Recurrent thrombophlebitis	HP:0004419
2147	F2	Menorrhagia	HP:0000132
2147	F2	Ecchymosis	HP:0031364
2147	F2	Epistaxis	HP:0000421
2147	F2	Autosomal dominant inheritance	HP:0000006
2147	F2	Autosomal recessive inheritance	HP:0000007
2147	F2	Childhood onset	HP:0011463
2147	F2	Joint hemorrhage	HP:0005261
2147	F2	Bruising susceptibility	HP:0000978
2147	F2	Thromboembolism	HP:0001907
2147	F2	Variable expressivity	HP:0003828
2147	F2	Prolonged prothrombin time	HP:0008151
2147	F2	Congenital onset	HP:0003577
2147	F2	Cerebral venous thrombosis	HP:0005305
2147	F2	Pulmonary embolism	HP:0002204
2147	F2	Prolonged partial thromboplastin time	HP:0003645
2147	F2	Gastrointestinal hemorrhage	HP:0002239
51300	TIMMDC1	Seizures	HP:0001250
51300	TIMMDC1	Progressive neurologic deterioration	HP:0002344
51300	TIMMDC1	Infantile onset	HP:0003593
51300	TIMMDC1	Abnormal mitochondria in muscle tissue	HP:0008316
51300	TIMMDC1	Dysmetria	HP:0001310
51300	TIMMDC1	Global developmental delay	HP:0001263
10342	TFG	Muscle spasm	HP:0003394
10342	TFG	Hyperreflexia	HP:0001347
10342	TFG	Areflexia	HP:0001284
10342	TFG	Hyperlipidemia	HP:0003077
10342	TFG	Autosomal dominant inheritance	HP:0000006
10342	TFG	Autosomal recessive inheritance	HP:0000007
10342	TFG	Optic atrophy	HP:0000648
10342	TFG	Gait disturbance	HP:0001288
10342	TFG	Hand tremor	HP:0002378
10342	TFG	Motor polyneuropathy	HP:0007178
10342	TFG	Fasciculations	HP:0002380
10342	TFG	Tetraplegia	HP:0002445
10342	TFG	Axonal degeneration	HP:0040078
10342	TFG	Sensory impairment	HP:0003474
10342	TFG	Proximal amyotrophy	HP:0007126
10342	TFG	Slow progression	HP:0003677
10342	TFG	Degeneration of anterior horn cells	HP:0002398
10342	TFG	Babinski sign	HP:0003487
10342	TFG	Abnormal myelination	HP:0012447
10342	TFG	Difficulty climbing stairs	HP:0003551
10342	TFG	Sensorimotor neuropathy	HP:0007141
10342	TFG	Peripheral neuropathy	HP:0009830
10342	TFG	Spastic paraplegia	HP:0001258
10342	TFG	Inability to walk	HP:0002540
10342	TFG	Distal lower limb amyotrophy	HP:0008944
10342	TFG	Difficulty standing	HP:0003698
10342	TFG	Decreased number of peripheral myelinated nerve fibers	HP:0003380
10342	TFG	Mildly elevated creatine kinase	HP:0008180
10342	TFG	Proximal muscle weakness	HP:0003701
10342	TFG	Abnormality of the Achilles tendon	HP:0005109
10342	TFG	Distal sensory impairment	HP:0002936
10342	TFG	Sensory neuropathy	HP:0000763
10342	TFG	Gliosis	HP:0002171
10342	TFG	Visual loss	HP:0000572
10342	TFG	Adult onset	HP:0003581
10342	TFG	Abnormality of peripheral nerve conduction	HP:0003134
2153	F5	Hepatomegaly	HP:0002240
2153	F5	Portal hypertension	HP:0001409
2153	F5	Deep venous thrombosis	HP:0002625
2153	F5	Prolonged bleeding time	HP:0003010
2153	F5	Menorrhagia	HP:0000132
2153	F5	Ascites	HP:0001541
2153	F5	Autosomal dominant inheritance	HP:0000006
2153	F5	Autosomal recessive inheritance	HP:0000007
2153	F5	Resistance to activated protein C	HP:0012175
2153	F5	Splenomegaly	HP:0001744
2153	F5	Bruising susceptibility	HP:0000978
2153	F5	Prolonged prothrombin time	HP:0008151
2153	F5	Reduced coagulation factor V activity	HP:0003225
2153	F5	Fever	HP:0001945
2153	F5	Acute hepatic failure	HP:0006554
2153	F5	Peritonitis	HP:0002586
2153	F5	Intestinal obstruction	HP:0005214
2153	F5	Elevated hepatic transaminase	HP:0002910
2153	F5	Weight loss	HP:0001824
2153	F5	Epistaxis	HP:0000421
2153	F5	Prolonged whole-blood clotting time	HP:0005542
2153	F5	Malabsorption	HP:0002024
2153	F5	Abdominal pain	HP:0002027
2153	F5	Cirrhosis	HP:0001394
2153	F5	Hypercoagulability	HP:0100724
2153	F5	Jaundice	HP:0000952
2153	F5	Esophageal varix	HP:0002040
2153	F5	Cholecystitis	HP:0001082
2153	F5	Preeclampsia	HP:0100602
2153	F5	Gastrointestinal infarctions	HP:0005244
2153	F5	Prolonged partial thromboplastin time	HP:0003645
2153	F5	Adult onset	HP:0003581
2153	F5	Gastrointestinal hemorrhage	HP:0002239
51305	KCNK9	Sacral dimple	HP:0000960
51305	KCNK9	Intellectual disability	HP:0001249
51305	KCNK9	Short philtrum	HP:0000322
51305	KCNK9	Muscular hypotonia	HP:0001252
51305	KCNK9	Autosomal dominant inheritance	HP:0000006
51305	KCNK9	Feeding difficulties in infancy	HP:0008872
51305	KCNK9	Submucous cleft soft palate	HP:0011819
51305	KCNK9	Abnormal facial shape	HP:0001999
51305	KCNK9	Narrow forehead	HP:0000341
51305	KCNK9	Highly arched eyebrow	HP:0002553
51305	KCNK9	High palate	HP:0000218
51305	KCNK9	Broad eyebrow	HP:0011229
51305	KCNK9	Thick eyebrow	HP:0000574
51305	KCNK9	Dysphagia	HP:0002015
10345	TRDN	Seizures	HP:0001250
10345	TRDN	Sudden death	HP:0001699
10345	TRDN	Autosomal dominant inheritance	HP:0000006
10345	TRDN	Atrial standstill	HP:0025478
10345	TRDN	Autosomal recessive inheritance	HP:0000007
10345	TRDN	Shock	HP:0031273
10345	TRDN	Left ventricular dysfunction	HP:0005162
10345	TRDN	Coma	HP:0001259
10345	TRDN	Sudden cardiac death	HP:0001645
10345	TRDN	Vertigo	HP:0002321
10345	TRDN	Ventricular tachycardia	HP:0004756
10345	TRDN	Proximal muscle weakness	HP:0003701
10345	TRDN	Atrial fibrillation	HP:0005110
10345	TRDN	Ventricular extrasystoles	HP:0006682
10345	TRDN	Polymorphic ventricular tachycardia	HP:0031677
10345	TRDN	Syncope	HP:0001279
10345	TRDN	Cardiac arrest	HP:0001695
10347	ABCA7	Intellectual disability	HP:0001249
10347	ABCA7	Hallucinations	HP:0000738
10347	ABCA7	Seizures	HP:0001250
10347	ABCA7	Ataxia	HP:0001251
10347	ABCA7	Cerebral cortical atrophy	HP:0002120
10347	ABCA7	Neurofibrillary tangles	HP:0002185
10347	ABCA7	Agitation	HP:0000713
10347	ABCA7	Confusion	HP:0001289
10347	ABCA7	Semantic dementia	HP:0030219
10347	ABCA7	Aphasia	HP:0002381
10347	ABCA7	Deposits immunoreactive to beta-amyloid protein	HP:0003791
10347	ABCA7	Abnormal social behavior	HP:0012433
10347	ABCA7	Oculomotor apraxia	HP:0000657
10347	ABCA7	Memory impairment	HP:0002354
10347	ABCA7	Parkinsonism	HP:0001300
10347	ABCA7	Myoclonus	HP:0001336
10347	ABCA7	Abnormality of vision	HP:0000504
10347	ABCA7	Hypertonia	HP:0001276
10347	ABCA7	Finger agnosia	HP:0010525
10347	ABCA7	Dysgraphia	HP:0010526
10347	ABCA7	Disinhibition	HP:0000734
10347	ABCA7	Language impairment	HP:0002463
2155	F7	Abnormality of the umbilical cord	HP:0010881
2155	F7	Gingival bleeding	HP:0000225
2155	F7	Abnormal bleeding	HP:0001892
2155	F7	Menorrhagia	HP:0000132
2155	F7	Epistaxis	HP:0000421
2155	F7	Autosomal recessive inheritance	HP:0000007
2155	F7	Intramuscular hematoma	HP:0012233
2155	F7	Reduced factor VII activity	HP:0008169
2155	F7	Ovarian cyst	HP:0000138
2155	F7	Joint hemorrhage	HP:0005261
2155	F7	Prolonged bleeding after surgery	HP:0004846
2155	F7	Bruising susceptibility	HP:0000978
2155	F7	Post-partum hemorrhage	HP:0011891
2155	F7	Variable expressivity	HP:0003828
2155	F7	Prolonged prothrombin time	HP:0008151
2155	F7	Intracranial hemorrhage	HP:0002170
2155	F7	Gastrointestinal hemorrhage	HP:0002239
51308	REEP2	Muscle stiffness	HP:0003552
51308	REEP2	Pes cavus	HP:0001761
51308	REEP2	Hyperreflexia	HP:0001347
51308	REEP2	Autosomal dominant inheritance	HP:0000006
51308	REEP2	Autosomal recessive inheritance	HP:0000007
51308	REEP2	Spastic paraplegia	HP:0001258
51308	REEP2	Rigidity	HP:0002063
51308	REEP2	Spastic gait	HP:0002064
51308	REEP2	Memory impairment	HP:0002354
51308	REEP2	Pain	HP:0012531
51308	REEP2	Urinary bladder sphincter dysfunction	HP:0002839
51308	REEP2	Impaired vibration sensation at ankles	HP:0006938
51308	REEP2	Slow progression	HP:0003677
51308	REEP2	Postural tremor	HP:0002174
51308	REEP2	Babinski sign	HP:0003487
2157	F8	Bruising susceptibility	HP:0000978
2157	F8	Reduced factor VIII activity	HP:0003125
2157	F8	Osteoarthritis	HP:0002758
2157	F8	X-linked recessive inheritance	HP:0001419
2157	F8	Joint hemorrhage	HP:0005261
2157	F8	Prolonged partial thromboplastin time	HP:0003645
2157	F8	Persistent bleeding after trauma	HP:0001934
2158	F9	Reduced factor IX activity	HP:0011858
2158	F9	Abnormal bleeding	HP:0001892
2158	F9	Osteoarthritis	HP:0002758
2158	F9	Prolonged whole-blood clotting time	HP:0005542
2158	F9	X-linked recessive inheritance	HP:0001419
2158	F9	Prolonged partial thromboplastin time	HP:0003645
2158	F9	Joint hemorrhage	HP:0005261
2158	F9	Persistent bleeding after trauma	HP:0001934
2158	F9	Gastrointestinal hemorrhage	HP:0002239
2159	F10	Reduced factor X activity	HP:0008321
2159	F10	Gingival bleeding	HP:0000225
2159	F10	Abnormality of the musculature	HP:0003011
2159	F10	Variable expressivity	HP:0003828
2159	F10	Menorrhagia	HP:0000132
2159	F10	Epistaxis	HP:0000421
2159	F10	Autosomal recessive inheritance	HP:0000007
2159	F10	Prolonged prothrombin time	HP:0008151
2159	F10	Intramuscular hematoma	HP:0012233
2159	F10	Intracranial hemorrhage	HP:0002170
2159	F10	Joint hemorrhage	HP:0005261
2159	F10	Prolonged partial thromboplastin time	HP:0003645
2160	F11	Menorrhagia	HP:0000132
2160	F11	Abnormal bleeding	HP:0001892
2160	F11	Epistaxis	HP:0000421
2160	F11	Autosomal dominant inheritance	HP:0000006
2160	F11	Autosomal recessive inheritance	HP:0000007
2160	F11	Reduced factor XI activity	HP:0001929
2160	F11	Prolonged bleeding after dental extraction	HP:0006298
2160	F11	Prolonged partial thromboplastin time	HP:0003645
2160	F11	Joint hemorrhage	HP:0005261
2160	F11	Gastrointestinal hemorrhage	HP:0002239
10352	WARS2	Feeding difficulties	HP:0011968
10352	WARS2	Absent speech	HP:0001344
10352	WARS2	Athetosis	HP:0002305
10352	WARS2	Exotropia	HP:0000577
10352	WARS2	Skeletal muscle atrophy	HP:0003202
10352	WARS2	Hyperreflexia	HP:0001347
10352	WARS2	Amblyopia	HP:0000646
10352	WARS2	Ventriculomegaly	HP:0002119
10352	WARS2	Optic atrophy	HP:0000648
10352	WARS2	Cerebral atrophy	HP:0002059
10352	WARS2	Limb hypertonia	HP:0002509
10352	WARS2	Spastic tetraplegia	HP:0002510
10352	WARS2	Hypoglycemia	HP:0001943
10352	WARS2	Dysmetria	HP:0001310
10352	WARS2	Delayed myelination	HP:0012448
10352	WARS2	Intellectual disability	HP:0001249
10352	WARS2	Seizures	HP:0001250
10352	WARS2	Increased serum lactate	HP:0002151
10352	WARS2	Muscular hypotonia of the trunk	HP:0008936
10352	WARS2	Muscle weakness	HP:0001324
10352	WARS2	Global developmental delay	HP:0001263
10352	WARS2	Dystonia	HP:0001332
10352	WARS2	Cerebellar atrophy	HP:0001272
10352	WARS2	Rod-cone dystrophy	HP:0000510
10352	WARS2	Nystagmus	HP:0000639
2161	F12	Autosomal dominant inheritance	HP:0000006
2161	F12	Prolonged whole-blood clotting time	HP:0005542
2161	F12	Autosomal recessive inheritance	HP:0000007
2161	F12	Angioedema	HP:0100665
2161	F12	Intestinal edema	HP:0005225
2161	F12	Reduced factor XII activity	HP:0004841
2161	F12	Facial edema	HP:0000282
2161	F12	Vomiting	HP:0002013
2161	F12	Prolonged partial thromboplastin time	HP:0003645
2161	F12	Episodic abdominal pain	HP:0002574
2161	F12	Pharyngeal edema	HP:0011855
2161	F12	Episodic upper airway obstruction	HP:0012271
51314	NME8	Recurrent sinusitis	HP:0011108
51314	NME8	Sinusitis	HP:0000246
51314	NME8	Abnormal ciliary motility	HP:0012262
51314	NME8	Autosomal recessive inheritance	HP:0000007
51314	NME8	Ciliary dyskinesia	HP:0012265
51314	NME8	Recurrent respiratory infections	HP:0002205
51314	NME8	Absent/shortened outer dynein arms	HP:0200109
2162	F13A1	Bruising susceptibility	HP:0000978
2162	F13A1	Ecchymosis	HP:0031364
2162	F13A1	Reduced factor XIII activity	HP:0008357
2162	F13A1	Epistaxis	HP:0000421
2162	F13A1	Autosomal recessive inheritance	HP:0000007
2162	F13A1	Congenital onset	HP:0003577
2162	F13A1	Intracranial hemorrhage	HP:0002170
2162	F13A1	Spontaneous hematomas	HP:0007420
2162	F13A1	Joint hemorrhage	HP:0005261
2165	F13B	Bruising susceptibility	HP:0000978
2165	F13B	Ecchymosis	HP:0031364
2165	F13B	Reduced factor XIII activity	HP:0008357
2165	F13B	Autosomal recessive inheritance	HP:0000007
2165	F13B	Congenital onset	HP:0003577
2165	F13B	Abnormal umbilical stump bleeding	HP:0011884
2165	F13B	Prolonged bleeding after surgery	HP:0004846
51317	PHF21A	Intellectual disability	HP:0001249
51317	PHF21A	Seizures	HP:0001250
51317	PHF21A	Short philtrum	HP:0000322
51317	PHF21A	Strabismus	HP:0000486
51317	PHF21A	Broad nasal tip	HP:0000455
51317	PHF21A	Exostoses	HP:0100777
51317	PHF21A	Parietal foramina	HP:0002697
51317	PHF21A	Prominent nasal bridge	HP:0000426
51317	PHF21A	Nephroblastoma	HP:0002667
51317	PHF21A	Decreased skull ossification	HP:0004331
51317	PHF21A	Underdeveloped nasal alae	HP:0000430
51317	PHF21A	Anemia	HP:0001903
51317	PHF21A	Global developmental delay	HP:0001263
51317	PHF21A	Depressed nasal tip	HP:0000437
51317	PHF21A	Hypothyroidism	HP:0000821
51317	PHF21A	Micropenis	HP:0000054
51317	PHF21A	Hypertension	HP:0000822
51317	PHF21A	Delayed puberty	HP:0000823
51317	PHF21A	Brachycephaly	HP:0000248
51317	PHF21A	Downturned corners of mouth	HP:0002714
51317	PHF21A	Micrognathia	HP:0000347
51317	PHF21A	Epicanthus	HP:0000286
51317	PHF21A	Nystagmus	HP:0000639
51322	WAC	Feeding difficulties	HP:0011968
51322	WAC	Autosomal dominant inheritance	HP:0000006
51322	WAC	Infantile onset	HP:0003593
51322	WAC	Agitation	HP:0000713
51322	WAC	Generalized hypotonia	HP:0001290
51322	WAC	Aggressive behavior	HP:0000718
51322	WAC	Broad forehead	HP:0000337
51322	WAC	Prominent forehead	HP:0011220
51322	WAC	Short neck	HP:0000470
51322	WAC	Sensorineural hearing impairment	HP:0000407
51322	WAC	Synophrys	HP:0000664
51322	WAC	Coarse facial features	HP:0000280
51322	WAC	Midface retrusion	HP:0011800
51322	WAC	Downturned corners of mouth	HP:0002714
51322	WAC	Thin upper lip vermilion	HP:0000219
51322	WAC	Bulbous nose	HP:0000414
51322	WAC	Hypoplasia of the corpus callosum	HP:0002079
51322	WAC	Depressed nasal bridge	HP:0005280
51322	WAC	Myopia	HP:0000545
51322	WAC	Seizures	HP:0001250
51322	WAC	Anxiety	HP:0000739
51322	WAC	Constipation	HP:0002019
51322	WAC	Astigmatism	HP:0000483
51322	WAC	Full cheeks	HP:0000293
51322	WAC	Posteriorly rotated ears	HP:0000358
51322	WAC	Strabismus	HP:0000486
51322	WAC	Deeply set eye	HP:0000490
51322	WAC	Attention deficit hyperactivity disorder	HP:0007018
51322	WAC	Hearing impairment	HP:0000365
51322	WAC	Delayed speech and language development	HP:0000750
51322	WAC	Global developmental delay	HP:0001263
51322	WAC	Hirsutism	HP:0001007
51322	WAC	Inverted nipples	HP:0003186
51322	WAC	Brachycephaly	HP:0000248
51322	WAC	Sleep disturbance	HP:0002360
51322	WAC	Abnormality of the pinna	HP:0000377
51322	WAC	Hypertelorism	HP:0000316
51322	WAC	Thick eyebrow	HP:0000574
51324	SPG21	Akinetic mutism	HP:0012672
51324	SPG21	Hyperreflexia	HP:0001347
51324	SPG21	Autosomal recessive inheritance	HP:0000007
51324	SPG21	Gait disturbance	HP:0001288
51324	SPG21	Spastic paraparesis	HP:0002313
51324	SPG21	Apraxia	HP:0002186
51324	SPG21	Dementia	HP:0000726
51324	SPG21	Abnormality of extrapyramidal motor function	HP:0002071
51324	SPG21	Abnormal pyramidal sign	HP:0007256
51324	SPG21	Onset	HP:0003674
51324	SPG21	Slow progression	HP:0003677
51324	SPG21	Dysgraphia	HP:0010526
51324	SPG21	Babinski sign	HP:0003487
51324	SPG21	Dysphagia	HP:0002015
51324	SPG21	Hypoplasia of the corpus callosum	HP:0002079
51324	SPG21	Abnormal cerebellum morphology	HP:0001317
51324	SPG21	Peripheral neuropathy	HP:0009830
51324	SPG21	Spasticity	HP:0001257
51324	SPG21	Spastic paraplegia	HP:0001258
51324	SPG21	Personality disorder	HP:0012075
51324	SPG21	Dysarthria	HP:0001260
51324	SPG21	Lower limb muscle weakness	HP:0007340
51324	SPG21	Primitive reflex	HP:0002476
51324	SPG21	Frontotemporal cerebral atrophy	HP:0006892
51324	SPG21	Global developmental delay	HP:0001263
51324	SPG21	Difficulty walking	HP:0002355
51324	SPG21	Variable expressivity	HP:0003828
51324	SPG21	Motor delay	HP:0001270
51324	SPG21	Abnormality of peripheral nerve conduction	HP:0003134
10367	MICU1	Orofacial dyskinesia	HP:0002310
10367	MICU1	Autosomal recessive inheritance	HP:0000007
10367	MICU1	Optic atrophy	HP:0000648
10367	MICU1	Abnormal basal ganglia MRI signal intensity	HP:0012751
10367	MICU1	Resting tremor	HP:0002322
10367	MICU1	Peripheral axonal neuropathy	HP:0003477
10367	MICU1	Difficulty running	HP:0009046
10367	MICU1	Central core regions in muscle fibers	HP:0030230
10367	MICU1	Abnormality of extrapyramidal motor function	HP:0002071
10367	MICU1	Chorea	HP:0002072
10367	MICU1	Ophthalmoplegia	HP:0000602
10367	MICU1	Ataxia	HP:0001251
10367	MICU1	Elevated serum creatine kinase	HP:0003236
10367	MICU1	Increased variability in muscle fiber diameter	HP:0003557
10367	MICU1	Centrally nucleated skeletal muscle fibers	HP:0003687
10367	MICU1	Global developmental delay	HP:0001263
10367	MICU1	Specific learning disability	HP:0001328
10367	MICU1	Progressive extrapyramidal movement disorder	HP:0007153
10367	MICU1	Difficulty walking	HP:0002355
10367	MICU1	Dystonia	HP:0001332
10367	MICU1	Mildly elevated creatine kinase	HP:0008180
10367	MICU1	Proximal muscle weakness	HP:0003701
10367	MICU1	Motor delay	HP:0001270
10367	MICU1	Progressive extrapyramidal muscular rigidity	HP:0007158
10367	MICU1	Tremor	HP:0001337
10367	MICU1	Ptosis	HP:0000508
10367	MICU1	Microcephaly	HP:0000252
2175	FANCA	Umbilical hernia	HP:0001537
2175	FANCA	Duodenal stenosis	HP:0100867
2175	FANCA	Cataract	HP:0000518
2175	FANCA	Abnormality of femur morphology	HP:0002823
2175	FANCA	Autosomal recessive inheritance	HP:0000007
2175	FANCA	Proptosis	HP:0000520
2175	FANCA	Decreased fertility in males	HP:0012041
2175	FANCA	Recurrent urinary tract infections	HP:0000010
2175	FANCA	Hip dislocation	HP:0002827
2175	FANCA	Dolichocephaly	HP:0000268
2175	FANCA	Tracheoesophageal fistula	HP:0002575
2175	FANCA	Oligohydramnios	HP:0001562
2175	FANCA	Azoospermia	HP:0000027
2175	FANCA	Cryptorchidism	HP:0000028
2175	FANCA	Hypopigmented skin patches	HP:0001053
2175	FANCA	Epicanthus	HP:0000286
2175	FANCA	Weight loss	HP:0001824
2175	FANCA	Bicornuate uterus	HP:0000813
2175	FANCA	Myelodysplasia	HP:0002863
2175	FANCA	Hypospadias	HP:0000047
2175	FANCA	Hypergonadotropic hypogonadism	HP:0000815
2175	FANCA	Absent thumb	HP:0009777
2175	FANCA	Short thumb	HP:0009778
2175	FANCA	Aplasia/Hypoplasia of the uvula	HP:0010293
2175	FANCA	Microphthalmia	HP:0000568
2175	FANCA	Hypertelorism	HP:0000316
2175	FANCA	Hyperreflexia	HP:0001347
2175	FANCA	Facial asymmetry	HP:0000324
2175	FANCA	Upslanted palpebral fissure	HP:0000582
2175	FANCA	Ventriculomegaly	HP:0002119
2175	FANCA	Hydroureter	HP:0000072
2175	FANCA	Thrombocytopenia	HP:0001873
2175	FANCA	Duplicated collecting system	HP:0000081
2175	FANCA	Renal insufficiency	HP:0000083
2175	FANCA	Neutropenia	HP:0001875
2175	FANCA	Sloping forehead	HP:0000340
2175	FANCA	Pancytopenia	HP:0001876
2175	FANCA	Horseshoe kidney	HP:0000085
2175	FANCA	Ectopic kidney	HP:0000086
2175	FANCA	Scoliosis	HP:0002650
2175	FANCA	Leukopenia	HP:0001882
2175	FANCA	Micrognathia	HP:0000347
2175	FANCA	Abnormal heart morphology	HP:0001627
2175	FANCA	Atrial septal defect	HP:0001631
2175	FANCA	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2175	FANCA	Tetralogy of Fallot	HP:0001636
2175	FANCA	Aplasia/Hypoplasia of the radius	HP:0006501
2175	FANCA	Hypertrophic cardiomyopathy	HP:0001639
2175	FANCA	Renal agenesis	HP:0000104
2175	FANCA	Reticulocytopenia	HP:0001896
2175	FANCA	Patent ductus arteriosus	HP:0001643
2175	FANCA	Hearing impairment	HP:0000365
2175	FANCA	Abnormal aortic valve morphology	HP:0001646
2175	FANCA	Spina bifida	HP:0002414
2175	FANCA	Anemia	HP:0001903
2175	FANCA	Abnormality of the liver	HP:0001392
2175	FANCA	Clinodactyly of the 5th finger	HP:0004209
2175	FANCA	Aplasia/Hypoplasia of the iris	HP:0008053
2175	FANCA	Leukemia	HP:0001909
2175	FANCA	Aplasia/Hypoplasia of fingers	HP:0006265
2175	FANCA	External ear malformation	HP:0008572
2175	FANCA	Nystagmus	HP:0000639
2175	FANCA	Absent radius	HP:0003974
2175	FANCA	Hypogonadism	HP:0000135
2175	FANCA	Multiple cafe-au-lait spots	HP:0007565
2175	FANCA	Deficient excision of UV-induced pyrimidine dimers in DNA	HP:0003213
2175	FANCA	Prolonged G2 phase of cell cycle	HP:0003214
2175	FANCA	Abnormal aortic morphology	HP:0001679
2175	FANCA	Pyridoxine-responsive sideroblastic anemia	HP:0005522
2175	FANCA	Abnormality of chromosome stability	HP:0003220
2175	FANCA	Chromosomal breakage induced by crosslinking agents	HP:0003221
2175	FANCA	Clubbing of toes	HP:0100760
2175	FANCA	Cranial nerve paralysis	HP:0006824
2175	FANCA	Cleft palate	HP:0000175
2175	FANCA	Triphalangeal thumb	HP:0001199
2175	FANCA	Arteriovenous malformation	HP:0100026
2175	FANCA	Cafe-au-lait spot	HP:0000957
2175	FANCA	Abnormal localization of kidney	HP:0100542
2175	FANCA	Almond-shaped palpebral fissure	HP:0007874
2175	FANCA	Meckel diverticulum	HP:0002245
2175	FANCA	Choanal atresia	HP:0000453
2175	FANCA	Short palpebral fissure	HP:0012745
2175	FANCA	Aganglionic megacolon	HP:0002251
2175	FANCA	Hypoplasia of the ulna	HP:0003022
2175	FANCA	Bruising susceptibility	HP:0000978
2175	FANCA	Finger syndactyly	HP:0006101
2175	FANCA	Frontal bossing	HP:0002007
2175	FANCA	Complete duplication of thumb phalanx	HP:0009943
2175	FANCA	Abnormality of cardiovascular system morphology	HP:0030680
2175	FANCA	High palate	HP:0000218
2175	FANCA	Abnormal carotid artery morphology	HP:0005344
2175	FANCA	Intellectual disability	HP:0001249
2175	FANCA	Short stature	HP:0004322
2175	FANCA	Pes planus	HP:0001763
2175	FANCA	Astigmatism	HP:0000483
2175	FANCA	Absent testis	HP:0010469
2175	FANCA	Renal hypoplasia/aplasia	HP:0008678
2175	FANCA	Strabismus	HP:0000486
2175	FANCA	Anal atresia	HP:0002023
2175	FANCA	Intrauterine growth retardation	HP:0001511
2175	FANCA	Irregular hyperpigmentation	HP:0007400
2175	FANCA	Abnormality of skin pigmentation	HP:0001000
2175	FANCA	Toe syndactyly	HP:0001770
2175	FANCA	Abnormality of the preputium	HP:0100587
2175	FANCA	Hydrocephalus	HP:0000238
2175	FANCA	Small for gestational age	HP:0001518
2175	FANCA	Global developmental delay	HP:0001263
2175	FANCA	Visual impairment	HP:0000505
2175	FANCA	Anemic pallor	HP:0001017
2175	FANCA	Microcephaly	HP:0000252
2175	FANCA	Ptosis	HP:0000508
2175	FANCA	Reduced bone mineral density	HP:0004349
2176	FANCC	Umbilical hernia	HP:0001537
2176	FANCC	Duodenal stenosis	HP:0100867
2176	FANCC	Cataract	HP:0000518
2176	FANCC	Abnormality of femur morphology	HP:0002823
2176	FANCC	Autosomal recessive inheritance	HP:0000007
2176	FANCC	Proptosis	HP:0000520
2176	FANCC	Decreased fertility in males	HP:0012041
2176	FANCC	Recurrent urinary tract infections	HP:0000010
2176	FANCC	Hip dislocation	HP:0002827
2176	FANCC	Dolichocephaly	HP:0000268
2176	FANCC	Tracheoesophageal fistula	HP:0002575
2176	FANCC	Oligohydramnios	HP:0001562
2176	FANCC	Azoospermia	HP:0000027
2176	FANCC	Cryptorchidism	HP:0000028
2176	FANCC	Hypopigmented skin patches	HP:0001053
2176	FANCC	Epicanthus	HP:0000286
2176	FANCC	Weight loss	HP:0001824
2176	FANCC	Bicornuate uterus	HP:0000813
2176	FANCC	Myelodysplasia	HP:0002863
2176	FANCC	Hypospadias	HP:0000047
2176	FANCC	Hypergonadotropic hypogonadism	HP:0000815
2176	FANCC	Absent thumb	HP:0009777
2176	FANCC	Short thumb	HP:0009778
2176	FANCC	Aplasia/Hypoplasia of the uvula	HP:0010293
2176	FANCC	Microphthalmia	HP:0000568
2176	FANCC	Hypertelorism	HP:0000316
2176	FANCC	Hyperreflexia	HP:0001347
2176	FANCC	Facial asymmetry	HP:0000324
2176	FANCC	Upslanted palpebral fissure	HP:0000582
2176	FANCC	Ventriculomegaly	HP:0002119
2176	FANCC	Hydroureter	HP:0000072
2176	FANCC	Thrombocytopenia	HP:0001873
2176	FANCC	Duplicated collecting system	HP:0000081
2176	FANCC	Renal insufficiency	HP:0000083
2176	FANCC	Neutropenia	HP:0001875
2176	FANCC	Sloping forehead	HP:0000340
2176	FANCC	Pancytopenia	HP:0001876
2176	FANCC	Horseshoe kidney	HP:0000085
2176	FANCC	Ectopic kidney	HP:0000086
2176	FANCC	Scoliosis	HP:0002650
2176	FANCC	Leukopenia	HP:0001882
2176	FANCC	Micrognathia	HP:0000347
2176	FANCC	Abnormal heart morphology	HP:0001627
2176	FANCC	Atrial septal defect	HP:0001631
2176	FANCC	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2176	FANCC	Tetralogy of Fallot	HP:0001636
2176	FANCC	Aplasia/Hypoplasia of the radius	HP:0006501
2176	FANCC	Hypertrophic cardiomyopathy	HP:0001639
2176	FANCC	Reticulocytopenia	HP:0001896
2176	FANCC	Renal agenesis	HP:0000104
2176	FANCC	Patent ductus arteriosus	HP:0001643
2176	FANCC	Hearing impairment	HP:0000365
2176	FANCC	Abnormal aortic valve morphology	HP:0001646
2176	FANCC	Spina bifida	HP:0002414
2176	FANCC	Anemia	HP:0001903
2176	FANCC	Abnormality of the liver	HP:0001392
2176	FANCC	Clinodactyly of the 5th finger	HP:0004209
2176	FANCC	Aplasia/Hypoplasia of the iris	HP:0008053
2176	FANCC	Leukemia	HP:0001909
2176	FANCC	Aplasia/Hypoplasia of fingers	HP:0006265
2176	FANCC	External ear malformation	HP:0008572
2176	FANCC	Nystagmus	HP:0000639
2176	FANCC	Absent radius	HP:0003974
2176	FANCC	Hypogonadism	HP:0000135
2176	FANCC	Multiple cafe-au-lait spots	HP:0007565
2176	FANCC	Deficient excision of UV-induced pyrimidine dimers in DNA	HP:0003213
2176	FANCC	Prolonged G2 phase of cell cycle	HP:0003214
2176	FANCC	Abnormal aortic morphology	HP:0001679
2176	FANCC	Pyridoxine-responsive sideroblastic anemia	HP:0005522
2176	FANCC	Abnormality of chromosome stability	HP:0003220
2176	FANCC	Chromosomal breakage induced by crosslinking agents	HP:0003221
2176	FANCC	Clubbing of toes	HP:0100760
2176	FANCC	Cranial nerve paralysis	HP:0006824
2176	FANCC	Cleft palate	HP:0000175
2176	FANCC	Triphalangeal thumb	HP:0001199
2176	FANCC	Arteriovenous malformation	HP:0100026
2176	FANCC	Cafe-au-lait spot	HP:0000957
2176	FANCC	Abnormal localization of kidney	HP:0100542
2176	FANCC	Almond-shaped palpebral fissure	HP:0007874
2176	FANCC	Meckel diverticulum	HP:0002245
2176	FANCC	Choanal atresia	HP:0000453
2176	FANCC	Short palpebral fissure	HP:0012745
2176	FANCC	Aganglionic megacolon	HP:0002251
2176	FANCC	Hypoplasia of the ulna	HP:0003022
2176	FANCC	Bruising susceptibility	HP:0000978
2176	FANCC	Finger syndactyly	HP:0006101
2176	FANCC	Frontal bossing	HP:0002007
2176	FANCC	Complete duplication of thumb phalanx	HP:0009943
2176	FANCC	Abnormality of cardiovascular system morphology	HP:0030680
2176	FANCC	High palate	HP:0000218
2176	FANCC	Abnormal carotid artery morphology	HP:0005344
2176	FANCC	Intellectual disability	HP:0001249
2176	FANCC	Short stature	HP:0004322
2176	FANCC	Pes planus	HP:0001763
2176	FANCC	Astigmatism	HP:0000483
2176	FANCC	Absent testis	HP:0010469
2176	FANCC	Renal hypoplasia/aplasia	HP:0008678
2176	FANCC	Strabismus	HP:0000486
2176	FANCC	Anal atresia	HP:0002023
2176	FANCC	Intrauterine growth retardation	HP:0001511
2176	FANCC	Irregular hyperpigmentation	HP:0007400
2176	FANCC	Abnormality of skin pigmentation	HP:0001000
2176	FANCC	Toe syndactyly	HP:0001770
2176	FANCC	Abnormality of the preputium	HP:0100587
2176	FANCC	Hydrocephalus	HP:0000238
2176	FANCC	Small for gestational age	HP:0001518
2176	FANCC	Global developmental delay	HP:0001263
2176	FANCC	Visual impairment	HP:0000505
2176	FANCC	Anemic pallor	HP:0001017
2176	FANCC	Microcephaly	HP:0000252
2176	FANCC	Ptosis	HP:0000508
2176	FANCC	Reduced bone mineral density	HP:0004349
2177	FANCD2	Umbilical hernia	HP:0001537
2177	FANCD2	Duodenal stenosis	HP:0100867
2177	FANCD2	Cataract	HP:0000518
2177	FANCD2	Autosomal recessive inheritance	HP:0000007
2177	FANCD2	Abnormality of femur morphology	HP:0002823
2177	FANCD2	Proptosis	HP:0000520
2177	FANCD2	Decreased fertility in males	HP:0012041
2177	FANCD2	Recurrent urinary tract infections	HP:0000010
2177	FANCD2	Hip dislocation	HP:0002827
2177	FANCD2	Dolichocephaly	HP:0000268
2177	FANCD2	Tracheoesophageal fistula	HP:0002575
2177	FANCD2	Oligohydramnios	HP:0001562
2177	FANCD2	Azoospermia	HP:0000027
2177	FANCD2	Cryptorchidism	HP:0000028
2177	FANCD2	Hypopigmented skin patches	HP:0001053
2177	FANCD2	Epicanthus	HP:0000286
2177	FANCD2	Weight loss	HP:0001824
2177	FANCD2	Bicornuate uterus	HP:0000813
2177	FANCD2	Hypergonadotropic hypogonadism	HP:0000815
2177	FANCD2	Myelodysplasia	HP:0002863
2177	FANCD2	Hypospadias	HP:0000047
2177	FANCD2	Absent thumb	HP:0009777
2177	FANCD2	Short thumb	HP:0009778
2177	FANCD2	Aplasia/Hypoplasia of the uvula	HP:0010293
2177	FANCD2	Microphthalmia	HP:0000568
2177	FANCD2	Hypertelorism	HP:0000316
2177	FANCD2	Hyperreflexia	HP:0001347
2177	FANCD2	Facial asymmetry	HP:0000324
2177	FANCD2	Upslanted palpebral fissure	HP:0000582
2177	FANCD2	Ventriculomegaly	HP:0002119
2177	FANCD2	Hydroureter	HP:0000072
2177	FANCD2	Thrombocytopenia	HP:0001873
2177	FANCD2	Duplicated collecting system	HP:0000081
2177	FANCD2	Neutropenia	HP:0001875
2177	FANCD2	Renal insufficiency	HP:0000083
2177	FANCD2	Pancytopenia	HP:0001876
2177	FANCD2	Sloping forehead	HP:0000340
2177	FANCD2	Horseshoe kidney	HP:0000085
2177	FANCD2	Ectopic kidney	HP:0000086
2177	FANCD2	Scoliosis	HP:0002650
2177	FANCD2	Leukopenia	HP:0001882
2177	FANCD2	Abnormal heart morphology	HP:0001627
2177	FANCD2	Micrognathia	HP:0000347
2177	FANCD2	Atrial septal defect	HP:0001631
2177	FANCD2	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2177	FANCD2	Tetralogy of Fallot	HP:0001636
2177	FANCD2	Aplasia/Hypoplasia of the radius	HP:0006501
2177	FANCD2	Hypertrophic cardiomyopathy	HP:0001639
2177	FANCD2	Renal agenesis	HP:0000104
2177	FANCD2	Reticulocytopenia	HP:0001896
2177	FANCD2	Patent ductus arteriosus	HP:0001643
2177	FANCD2	Hearing impairment	HP:0000365
2177	FANCD2	Abnormal aortic valve morphology	HP:0001646
2177	FANCD2	Spina bifida	HP:0002414
2177	FANCD2	Anemia	HP:0001903
2177	FANCD2	Abnormality of the liver	HP:0001392
2177	FANCD2	Clinodactyly of the 5th finger	HP:0004209
2177	FANCD2	Leukemia	HP:0001909
2177	FANCD2	Aplasia/Hypoplasia of the iris	HP:0008053
2177	FANCD2	Aplasia/Hypoplasia of fingers	HP:0006265
2177	FANCD2	External ear malformation	HP:0008572
2177	FANCD2	Nystagmus	HP:0000639
2177	FANCD2	Absent radius	HP:0003974
2177	FANCD2	Hypogonadism	HP:0000135
2177	FANCD2	Deficient excision of UV-induced pyrimidine dimers in DNA	HP:0003213
2177	FANCD2	Multiple cafe-au-lait spots	HP:0007565
2177	FANCD2	Prolonged G2 phase of cell cycle	HP:0003214
2177	FANCD2	Abnormal aortic morphology	HP:0001679
2177	FANCD2	Pyridoxine-responsive sideroblastic anemia	HP:0005522
2177	FANCD2	Abnormality of chromosome stability	HP:0003220
2177	FANCD2	Chromosomal breakage induced by crosslinking agents	HP:0003221
2177	FANCD2	Clubbing of toes	HP:0100760
2177	FANCD2	Cranial nerve paralysis	HP:0006824
2177	FANCD2	Cleft palate	HP:0000175
2177	FANCD2	Triphalangeal thumb	HP:0001199
2177	FANCD2	Arteriovenous malformation	HP:0100026
2177	FANCD2	Cafe-au-lait spot	HP:0000957
2177	FANCD2	Abnormal localization of kidney	HP:0100542
2177	FANCD2	Almond-shaped palpebral fissure	HP:0007874
2177	FANCD2	Meckel diverticulum	HP:0002245
2177	FANCD2	Choanal atresia	HP:0000453
2177	FANCD2	Short palpebral fissure	HP:0012745
2177	FANCD2	Aganglionic megacolon	HP:0002251
2177	FANCD2	Hypoplasia of the ulna	HP:0003022
2177	FANCD2	Bruising susceptibility	HP:0000978
2177	FANCD2	Finger syndactyly	HP:0006101
2177	FANCD2	Complete duplication of thumb phalanx	HP:0009943
2177	FANCD2	Frontal bossing	HP:0002007
2177	FANCD2	Abnormality of cardiovascular system morphology	HP:0030680
2177	FANCD2	High palate	HP:0000218
2177	FANCD2	Abnormal carotid artery morphology	HP:0005344
2177	FANCD2	Intellectual disability	HP:0001249
2177	FANCD2	Short stature	HP:0004322
2177	FANCD2	Pes planus	HP:0001763
2177	FANCD2	Astigmatism	HP:0000483
2177	FANCD2	Absent testis	HP:0010469
2177	FANCD2	Strabismus	HP:0000486
2177	FANCD2	Renal hypoplasia/aplasia	HP:0008678
2177	FANCD2	Anal atresia	HP:0002023
2177	FANCD2	Intrauterine growth retardation	HP:0001511
2177	FANCD2	Abnormality of skin pigmentation	HP:0001000
2177	FANCD2	Irregular hyperpigmentation	HP:0007400
2177	FANCD2	Toe syndactyly	HP:0001770
2177	FANCD2	Abnormality of the preputium	HP:0100587
2177	FANCD2	Small for gestational age	HP:0001518
2177	FANCD2	Hydrocephalus	HP:0000238
2177	FANCD2	Global developmental delay	HP:0001263
2177	FANCD2	Anemic pallor	HP:0001017
2177	FANCD2	Visual impairment	HP:0000505
2177	FANCD2	Microcephaly	HP:0000252
2177	FANCD2	Ptosis	HP:0000508
2177	FANCD2	Reduced bone mineral density	HP:0004349
10369	CACNG2	Intellectual disability	HP:0001249
10369	CACNG2	Autosomal dominant inheritance	HP:0000006
2178	FANCE	Umbilical hernia	HP:0001537
2178	FANCE	Duodenal stenosis	HP:0100867
2178	FANCE	Cataract	HP:0000518
2178	FANCE	Autosomal recessive inheritance	HP:0000007
2178	FANCE	Abnormality of femur morphology	HP:0002823
2178	FANCE	Proptosis	HP:0000520
2178	FANCE	Decreased fertility in males	HP:0012041
2178	FANCE	Recurrent urinary tract infections	HP:0000010
2178	FANCE	Hip dislocation	HP:0002827
2178	FANCE	Dolichocephaly	HP:0000268
2178	FANCE	Tracheoesophageal fistula	HP:0002575
2178	FANCE	Oligohydramnios	HP:0001562
2178	FANCE	Azoospermia	HP:0000027
2178	FANCE	Cryptorchidism	HP:0000028
2178	FANCE	Hypopigmented skin patches	HP:0001053
2178	FANCE	Epicanthus	HP:0000286
2178	FANCE	Weight loss	HP:0001824
2178	FANCE	Bicornuate uterus	HP:0000813
2178	FANCE	Hypergonadotropic hypogonadism	HP:0000815
2178	FANCE	Myelodysplasia	HP:0002863
2178	FANCE	Hypospadias	HP:0000047
2178	FANCE	Absent thumb	HP:0009777
2178	FANCE	Short thumb	HP:0009778
2178	FANCE	Aplasia/Hypoplasia of the uvula	HP:0010293
2178	FANCE	Microphthalmia	HP:0000568
2178	FANCE	Hypertelorism	HP:0000316
2178	FANCE	Hyperreflexia	HP:0001347
2178	FANCE	Facial asymmetry	HP:0000324
2178	FANCE	Upslanted palpebral fissure	HP:0000582
2178	FANCE	Ventriculomegaly	HP:0002119
2178	FANCE	Hydroureter	HP:0000072
2178	FANCE	Thrombocytopenia	HP:0001873
2178	FANCE	Duplicated collecting system	HP:0000081
2178	FANCE	Neutropenia	HP:0001875
2178	FANCE	Renal insufficiency	HP:0000083
2178	FANCE	Pancytopenia	HP:0001876
2178	FANCE	Sloping forehead	HP:0000340
2178	FANCE	Horseshoe kidney	HP:0000085
2178	FANCE	Ectopic kidney	HP:0000086
2178	FANCE	Scoliosis	HP:0002650
2178	FANCE	Leukopenia	HP:0001882
2178	FANCE	Abnormal heart morphology	HP:0001627
2178	FANCE	Micrognathia	HP:0000347
2178	FANCE	Atrial septal defect	HP:0001631
2178	FANCE	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2178	FANCE	Tetralogy of Fallot	HP:0001636
2178	FANCE	Aplasia/Hypoplasia of the radius	HP:0006501
2178	FANCE	Hypertrophic cardiomyopathy	HP:0001639
2178	FANCE	Renal agenesis	HP:0000104
2178	FANCE	Reticulocytopenia	HP:0001896
2178	FANCE	Patent ductus arteriosus	HP:0001643
2178	FANCE	Hearing impairment	HP:0000365
2178	FANCE	Abnormal aortic valve morphology	HP:0001646
2178	FANCE	Spina bifida	HP:0002414
2178	FANCE	Anemia	HP:0001903
2178	FANCE	Abnormality of the liver	HP:0001392
2178	FANCE	Clinodactyly of the 5th finger	HP:0004209
2178	FANCE	Leukemia	HP:0001909
2178	FANCE	Aplasia/Hypoplasia of the iris	HP:0008053
2178	FANCE	Aplasia/Hypoplasia of fingers	HP:0006265
2178	FANCE	External ear malformation	HP:0008572
2178	FANCE	Nystagmus	HP:0000639
2178	FANCE	Absent radius	HP:0003974
2178	FANCE	Hypogonadism	HP:0000135
2178	FANCE	Deficient excision of UV-induced pyrimidine dimers in DNA	HP:0003213
2178	FANCE	Multiple cafe-au-lait spots	HP:0007565
2178	FANCE	Prolonged G2 phase of cell cycle	HP:0003214
2178	FANCE	Abnormal aortic morphology	HP:0001679
2178	FANCE	Pyridoxine-responsive sideroblastic anemia	HP:0005522
2178	FANCE	Abnormality of chromosome stability	HP:0003220
2178	FANCE	Chromosomal breakage induced by crosslinking agents	HP:0003221
2178	FANCE	Clubbing of toes	HP:0100760
2178	FANCE	Cranial nerve paralysis	HP:0006824
2178	FANCE	Cleft palate	HP:0000175
2178	FANCE	Triphalangeal thumb	HP:0001199
2178	FANCE	Arteriovenous malformation	HP:0100026
2178	FANCE	Cafe-au-lait spot	HP:0000957
2178	FANCE	Abnormal localization of kidney	HP:0100542
2178	FANCE	Almond-shaped palpebral fissure	HP:0007874
2178	FANCE	Meckel diverticulum	HP:0002245
2178	FANCE	Choanal atresia	HP:0000453
2178	FANCE	Short palpebral fissure	HP:0012745
2178	FANCE	Aganglionic megacolon	HP:0002251
2178	FANCE	Hypoplasia of the ulna	HP:0003022
2178	FANCE	Bruising susceptibility	HP:0000978
2178	FANCE	Finger syndactyly	HP:0006101
2178	FANCE	Complete duplication of thumb phalanx	HP:0009943
2178	FANCE	Frontal bossing	HP:0002007
2178	FANCE	Abnormality of cardiovascular system morphology	HP:0030680
2178	FANCE	High palate	HP:0000218
2178	FANCE	Abnormal carotid artery morphology	HP:0005344
2178	FANCE	Intellectual disability	HP:0001249
2178	FANCE	Short stature	HP:0004322
2178	FANCE	Pes planus	HP:0001763
2178	FANCE	Astigmatism	HP:0000483
2178	FANCE	Absent testis	HP:0010469
2178	FANCE	Strabismus	HP:0000486
2178	FANCE	Renal hypoplasia/aplasia	HP:0008678
2178	FANCE	Anal atresia	HP:0002023
2178	FANCE	Intrauterine growth retardation	HP:0001511
2178	FANCE	Abnormality of skin pigmentation	HP:0001000
2178	FANCE	Irregular hyperpigmentation	HP:0007400
2178	FANCE	Toe syndactyly	HP:0001770
2178	FANCE	Abnormality of the preputium	HP:0100587
2178	FANCE	Small for gestational age	HP:0001518
2178	FANCE	Hydrocephalus	HP:0000238
2178	FANCE	Global developmental delay	HP:0001263
2178	FANCE	Anemic pallor	HP:0001017
2178	FANCE	Visual impairment	HP:0000505
2178	FANCE	Microcephaly	HP:0000252
2178	FANCE	Ptosis	HP:0000508
2178	FANCE	Reduced bone mineral density	HP:0004349
10370	CITED2	Perimembranous ventricular septal defect	HP:0011682
10370	CITED2	Underdeveloped supraorbital ridges	HP:0009891
10370	CITED2	Tetralogy of Fallot	HP:0001636
10370	CITED2	Brachydactyly	HP:0001156
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	Anomalous pulmonary venous return	HP:0010772
10370	CITED2	Cryptorchidism	HP:0000028
10370	CITED2	Atrial septal defect	HP:0001631
10371	SEMA3A	Dyspareunia	HP:0030016
10371	SEMA3A	Ichthyosis	HP:0008064
10371	SEMA3A	Gynecomastia	HP:0000771
10371	SEMA3A	Recurrent fractures	HP:0002757
10371	SEMA3A	Gait disturbance	HP:0001288
10371	SEMA3A	Abnormality of the voice	HP:0001608
10371	SEMA3A	Anosmia	HP:0000458
10371	SEMA3A	Reduced number of teeth	HP:0009804
10371	SEMA3A	Decreased fertility	HP:0000144
10371	SEMA3A	Primary amenorrhea	HP:0000786
10371	SEMA3A	Sensorineural hearing impairment	HP:0000407
10371	SEMA3A	Abnormality of cardiovascular system morphology	HP:0030680
10371	SEMA3A	Skeletal dysplasia	HP:0002652
10371	SEMA3A	Cryptorchidism	HP:0000028
10371	SEMA3A	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
10371	SEMA3A	Decreased testicular size	HP:0008734
10371	SEMA3A	Erectile abnormalities	HP:0100639
10371	SEMA3A	Pes cavus	HP:0001761
10371	SEMA3A	Seizures	HP:0001250
10371	SEMA3A	Ataxia	HP:0001251
10371	SEMA3A	Pes planus	HP:0001763
10371	SEMA3A	Muscular hypotonia	HP:0001252
10371	SEMA3A	Color vision defect	HP:0000551
10371	SEMA3A	Renal agenesis	HP:0000104
10371	SEMA3A	Obesity	HP:0001513
10371	SEMA3A	Dysarthria	HP:0001260
10371	SEMA3A	Hypogonadotrophic hypogonadism	HP:0000044
10371	SEMA3A	Muscle weakness	HP:0001324
10371	SEMA3A	Cleft palate	HP:0000175
10371	SEMA3A	Breast hypoplasia	HP:0003187
10371	SEMA3A	Micropenis	HP:0000054
10371	SEMA3A	Paraplegia	HP:0010550
10371	SEMA3A	Delayed puberty	HP:0000823
10371	SEMA3A	Bimanual synkinesia	HP:0001335
10371	SEMA3A	Tremor	HP:0001337
10371	SEMA3A	Hyposmia	HP:0004409
10371	SEMA3A	Visual impairment	HP:0000505
10371	SEMA3A	Ptosis	HP:0000508
10371	SEMA3A	Reduced bone mineral density	HP:0004349
10371	SEMA3A	Delayed skeletal maturation	HP:0002750
10371	SEMA3A	Anterior hypopituitarism	HP:0000830
10371	SEMA3A	Nystagmus	HP:0000639
84100	ARL6	Abnormal electroretinogram	HP:0000512
84100	ARL6	Skeletal muscle atrophy	HP:0003202
84100	ARL6	Multicystic kidney dysplasia	HP:0000003
84100	ARL6	Brachydactyly	HP:0001156
84100	ARL6	Cataract	HP:0000518
84100	ARL6	Autosomal dominant inheritance	HP:0000006
84100	ARL6	Autosomal recessive inheritance	HP:0000007
84100	ARL6	Hypogonadism	HP:0000135
84100	ARL6	Optic atrophy	HP:0000648
84100	ARL6	Postaxial hand polydactyly	HP:0001162
84100	ARL6	X-linked recessive inheritance	HP:0001419
84100	ARL6	Hypoplasia of the ovary	HP:0008724
84100	ARL6	Conductive hearing impairment	HP:0000405
84100	ARL6	Nyctalopia	HP:0000662
84100	ARL6	Sensorineural hearing impairment	HP:0000407
84100	ARL6	Abnormality of retinal pigmentation	HP:0007703
84100	ARL6	Cryptorchidism	HP:0000028
84100	ARL6	Hypoplasia of penis	HP:0008736
84100	ARL6	Abnormal testis morphology	HP:0000035
84100	ARL6	External genital hypoplasia	HP:0003241
84100	ARL6	Prominent nasal bridge	HP:0000426
84100	ARL6	Wide nasal bridge	HP:0000431
84100	ARL6	Keratoconus	HP:0000563
84100	ARL6	Hypertension	HP:0000822
84100	ARL6	Generalized hirsutism	HP:0002230
84100	ARL6	Tricuspid regurgitation	HP:0005180
84100	ARL6	Hyperreflexia	HP:0001347
84100	ARL6	Pigmentary retinopathy	HP:0000580
84100	ARL6	Hyperinsulinemia	HP:0000842
84100	ARL6	Polydactyly	HP:0010442
84100	ARL6	Anteverted nares	HP:0000463
84100	ARL6	Finger syndactyly	HP:0006101
84100	ARL6	Short neck	HP:0000470
84100	ARL6	Renal hypoplasia	HP:0000089
84100	ARL6	Ophthalmoplegia	HP:0000602
84100	ARL6	Type II diabetes mellitus	HP:0005978
84100	ARL6	Atypical scarring of skin	HP:0000987
84100	ARL6	Intellectual disability	HP:0001249
84100	ARL6	Short stature	HP:0004322
84100	ARL6	Nephrotic syndrome	HP:0000100
84100	ARL6	Photophobia	HP:0000613
84100	ARL6	Obesity	HP:0001513
84100	ARL6	Blindness	HP:0000618
84100	ARL6	Constriction of peripheral visual field	HP:0001133
84100	ARL6	Hearing impairment	HP:0000365
84100	ARL6	Abnormal retinal vascular morphology	HP:0008046
84100	ARL6	Downslanted palpebral fissures	HP:0000494
84100	ARL6	Global developmental delay	HP:0001263
84100	ARL6	Low-set, posteriorly rotated ears	HP:0000368
84100	ARL6	Hepatic fibrosis	HP:0001395
84100	ARL6	Variable expressivity	HP:0003828
84100	ARL6	Glaucoma	HP:0000501
84100	ARL6	Abnormality of fundus pigmentation	HP:0031605
84100	ARL6	Neurological speech impairment	HP:0002167
84100	ARL6	Progressive night blindness	HP:0007675
84100	ARL6	Medial flaring of the eyebrow	HP:0010747
84100	ARL6	Rod-cone dystrophy	HP:0000510
84100	ARL6	Nystagmus	HP:0000639
2182	ACSL4	Hyperreflexia	HP:0001347
2182	ACSL4	Anteverted nares	HP:0000463
2182	ACSL4	X-linked dominant inheritance	HP:0001423
2182	ACSL4	Malar flattening	HP:0000272
2182	ACSL4	Renal insufficiency	HP:0000083
2182	ACSL4	Glomerulopathy	HP:0100820
2182	ACSL4	Microscopic hematuria	HP:0002907
2182	ACSL4	Elliptocytosis	HP:0004445
2182	ACSL4	Proteinuria	HP:0000093
2182	ACSL4	Tapered finger	HP:0001182
2182	ACSL4	Language impairment	HP:0002463
2182	ACSL4	Depressed nasal bridge	HP:0005280
2182	ACSL4	Myopia	HP:0000545
2182	ACSL4	Intellectual disability	HP:0001249
2182	ACSL4	Anxiety	HP:0000739
2182	ACSL4	Muscular hypotonia	HP:0001252
2182	ACSL4	Strabismus	HP:0000486
2182	ACSL4	Thin vermilion border	HP:0000233
2182	ACSL4	Patent ductus arteriosus	HP:0001643
2182	ACSL4	Hearing impairment	HP:0000365
2182	ACSL4	Abnormal aortic valve morphology	HP:0001646
2182	ACSL4	Downslanted palpebral fissures	HP:0000494
2182	ACSL4	Abnormality of the metaphysis	HP:0000944
2182	ACSL4	Intellectual disability, severe	HP:0010864
2182	ACSL4	Thick vermilion border	HP:0012471
2182	ACSL4	Abnormal hair morphology	HP:0001595
2182	ACSL4	Microcephaly	HP:0000252
2182	ACSL4	Increased number of teeth	HP:0011069
2184	FAH	Hepatomegaly	HP:0002240
2184	FAH	Ascites	HP:0001541
2184	FAH	Autosomal recessive inheritance	HP:0000007
2184	FAH	Abnormality of coagulation	HP:0001928
2184	FAH	Abnormality of the abdominal wall	HP:0004298
2184	FAH	Renal Fanconi syndrome	HP:0001994
2184	FAH	Splenomegaly	HP:0001744
2184	FAH	Renal insufficiency	HP:0000083
2184	FAH	Hypoglycemia	HP:0001943
2184	FAH	Acute hepatic failure	HP:0006554
2184	FAH	Elevated urinary delta-aminolevulinic acid	HP:0003163
2184	FAH	Generalized aminoaciduria	HP:0002909
2184	FAH	Elevated hepatic transaminase	HP:0002910
2184	FAH	Paralytic ileus	HP:0002590
2184	FAH	Pancreatic islet-cell hyperplasia	HP:0004510
2184	FAH	Hypertyrosinemia	HP:0003231
2184	FAH	Glomerulosclerosis	HP:0000096
2184	FAH	Hypermethioninemia	HP:0003235
2184	FAH	Failure to thrive	HP:0001508
2184	FAH	Abnormal bleeding	HP:0001892
2184	FAH	Episodic peripheral neuropathy	HP:0006949
2184	FAH	Hypertrophic cardiomyopathy	HP:0001639
2184	FAH	Enlarged kidney	HP:0000105
2184	FAH	Elevated alpha-fetoprotein	HP:0006254
2184	FAH	Hypophosphatemic rickets	HP:0004912
2184	FAH	Cirrhosis	HP:0001394
2184	FAH	Periodic paralysis	HP:0003768
2184	FAH	Nephrocalcinosis	HP:0000121
2184	FAH	Hepatocellular carcinoma	HP:0001402
2184	FAH	Rickets of the lower limbs	HP:0006463
2184	FAH	Gastrointestinal hemorrhage	HP:0002239
2186	BPTF	Patent ductus arteriosus after birth at term	HP:0011648
2186	BPTF	Clinodactyly	HP:0030084
2186	BPTF	Pineal cyst	HP:0012683
2186	BPTF	Recurrent otitis media	HP:0000403
2186	BPTF	Cubitus valgus	HP:0002967
2186	BPTF	Midface retrusion	HP:0011800
2186	BPTF	Synophrys	HP:0000664
2186	BPTF	Epicanthus	HP:0000286
2186	BPTF	Progressive conductive hearing impairment	HP:0008607
2186	BPTF	Narrow mouth	HP:0000160
2186	BPTF	Myopia	HP:0000545
2186	BPTF	Truncal obesity	HP:0001956
2186	BPTF	Broad thumb	HP:0011304
2186	BPTF	Impaired visuospatial constructive cognition	HP:0010794
2186	BPTF	Wide nasal bridge	HP:0000431
2186	BPTF	Misalignment of teeth	HP:0000692
2186	BPTF	Overlapping toe	HP:0001845
2186	BPTF	Hypertelorism	HP:0000316
2186	BPTF	Sandal gap	HP:0001852
2186	BPTF	Thick eyebrow	HP:0000574
2186	BPTF	Feeding difficulties	HP:0011968
2186	BPTF	Prominent nose	HP:0000448
2186	BPTF	Short philtrum	HP:0000322
2186	BPTF	Abnormality of the cerebral white matter	HP:0002500
2186	BPTF	Triangular face	HP:0000325
2186	BPTF	Upslanted palpebral fissure	HP:0000582
2186	BPTF	Broad hallux	HP:0010055
2186	BPTF	Broad nasal tip	HP:0000455
2186	BPTF	Short palpebral fissure	HP:0012745
2186	BPTF	Abnormality of the wrist	HP:0003019
2186	BPTF	Vesicoureteral reflux	HP:0000076
2186	BPTF	Aggressive behavior	HP:0000718
2186	BPTF	Mood swings	HP:0000720
2186	BPTF	Abnormality of the ankles	HP:0003028
2186	BPTF	Short neck	HP:0000470
2186	BPTF	Slender finger	HP:0001238
2186	BPTF	Scoliosis	HP:0002650
2186	BPTF	Broad neck	HP:0000475
2186	BPTF	Thin upper lip vermilion	HP:0000219
2186	BPTF	Micrognathia	HP:0000347
2186	BPTF	Upper limb undergrowth	HP:0009824
2186	BPTF	Intellectual disability	HP:0001249
2186	BPTF	Seizures	HP:0001250
2186	BPTF	Hallucinations	HP:0000738
2186	BPTF	Anxiety	HP:0000739
2186	BPTF	Pes planus	HP:0001763
2186	BPTF	Secondary amenorrhea	HP:0000869
2186	BPTF	Strabismus	HP:0000486
2186	BPTF	Generalized neonatal hypotonia	HP:0008935
2186	BPTF	Microtia	HP:0008551
2186	BPTF	Intellectual disability, mild	HP:0001256
2186	BPTF	Deeply set eye	HP:0000490
2186	BPTF	Pulmonic stenosis	HP:0001642
2186	BPTF	Otosclerosis	HP:0000362
2186	BPTF	Downslanted palpebral fissures	HP:0000494
2186	BPTF	Delayed speech and language development	HP:0000750
2186	BPTF	Global developmental delay	HP:0001263
2186	BPTF	Small hand	HP:0200055
2186	BPTF	Hemihypotrophy of lower limb	HP:0200053
2186	BPTF	Prolonged QT interval	HP:0001657
2186	BPTF	Failure to thrive in infancy	HP:0001531
2186	BPTF	Ptosis	HP:0000508
51339	DACT1	Preauricular skin tag	HP:0000384
51339	DACT1	Crossed fused renal ectopia	HP:0004736
51339	DACT1	Sirenomelia	HP:0010497
51339	DACT1	Abnormality of the uterus	HP:0000130
51339	DACT1	Omphalocele	HP:0001539
51339	DACT1	Abnormality of the ribs	HP:0000772
51339	DACT1	Arnold-Chiari malformation	HP:0002308
51339	DACT1	Cataract	HP:0000518
51339	DACT1	Autosomal dominant inheritance	HP:0000006
51339	DACT1	Bifid uterus	HP:0000136
51339	DACT1	Congenital diaphragmatic hernia	HP:0000776
51339	DACT1	Anteriorly placed anus	HP:0001545
51339	DACT1	Abnormal vertebral morphology	HP:0003468
51339	DACT1	Overfolded helix	HP:0000396
51339	DACT1	Rectovaginal fistula	HP:0000143
51339	DACT1	Anencephaly	HP:0002323
51339	DACT1	Preaxial hand polydactyly	HP:0001177
51339	DACT1	Wide mouth	HP:0000154
51339	DACT1	Cryptorchidism	HP:0000028
51339	DACT1	Hypoplasia of penis	HP:0008736
51339	DACT1	Broad thumb	HP:0011304
51339	DACT1	Cranial nerve paralysis	HP:0006824
51339	DACT1	Myelomeningocele	HP:0002475
51339	DACT1	Hypospadias	HP:0000047
51339	DACT1	Triphalangeal thumb	HP:0001199
51339	DACT1	Bowel incontinence	HP:0002607
51339	DACT1	Bifid scrotum	HP:0000048
51339	DACT1	Hypothyroidism	HP:0000821
51339	DACT1	Chorioretinal coloboma	HP:0000567
51339	DACT1	Delayed puberty	HP:0000823
51339	DACT1	Rectoperineal fistula	HP:0004792
51339	DACT1	Microphthalmia	HP:0000568
51339	DACT1	Abnormality of the tragus	HP:0009912
51339	DACT1	Multiple renal cysts	HP:0005562
51339	DACT1	Facial asymmetry	HP:0000324
51339	DACT1	Blepharophimosis	HP:0000581
51339	DACT1	Bifid sternum	HP:0010309
51339	DACT1	Toe clinodactyly	HP:0001863
51339	DACT1	Subcutaneous nodule	HP:0001482
51339	DACT1	Broad hallux phalanx	HP:0010059
51339	DACT1	Vesicoureteral reflux	HP:0000076
51339	DACT1	Lower limb asymmetry	HP:0100559
51339	DACT1	Renal insufficiency	HP:0000083
51339	DACT1	Ectopic kidney	HP:0000086
51339	DACT1	Partial duplication of thumb phalanx	HP:0009944
51339	DACT1	Renal hypoplasia	HP:0000089
51339	DACT1	Scoliosis	HP:0002650
51339	DACT1	Aplasia/Hypoplasia of the 3rd toe	HP:0010331
51339	DACT1	Atrial septal defect	HP:0001631
51339	DACT1	Intellectual disability	HP:0001249
51339	DACT1	Cervical spina bifida	HP:0005857
51339	DACT1	Short stature	HP:0004322
51339	DACT1	Spina bifida occulta	HP:0003298
51339	DACT1	Constipation	HP:0002019
51339	DACT1	Pes planus	HP:0001763
51339	DACT1	Tetralogy of Fallot	HP:0001636
51339	DACT1	Iris coloboma	HP:0000612
51339	DACT1	Failure to thrive	HP:0001508
51339	DACT1	Strabismus	HP:0000486
51339	DACT1	Anal atresia	HP:0002023
51339	DACT1	Microtia	HP:0008551
51339	DACT1	Abnormal pulmonary valve morphology	HP:0001641
51339	DACT1	Toe syndactyly	HP:0001770
51339	DACT1	Patent ductus arteriosus	HP:0001643
51339	DACT1	Hearing impairment	HP:0000365
51339	DACT1	Urethral valve	HP:0010481
51339	DACT1	Clinodactyly of the 5th finger	HP:0004209
51339	DACT1	Limbal dermoid	HP:0001140
51339	DACT1	Abnormality of vision	HP:0000504
51339	DACT1	Ulnar deviation of finger	HP:0009465
51339	DACT1	Agenesis of corpus callosum	HP:0001274
51339	DACT1	Cupped ear	HP:0000378
51339	DACT1	External ear malformation	HP:0008572
2187	FANCB	Umbilical hernia	HP:0001537
2187	FANCB	Duodenal stenosis	HP:0100867
2187	FANCB	Microtia, third degree	HP:0011267
2187	FANCB	Cataract	HP:0000518
2187	FANCB	Abnormality of femur morphology	HP:0002823
2187	FANCB	Proptosis	HP:0000520
2187	FANCB	Decreased fertility in males	HP:0012041
2187	FANCB	Recurrent urinary tract infections	HP:0000010
2187	FANCB	Hip dislocation	HP:0002827
2187	FANCB	Dolichocephaly	HP:0000268
2187	FANCB	Tracheoesophageal fistula	HP:0002575
2187	FANCB	Anophthalmia	HP:0000528
2187	FANCB	Abnormality of the fallopian tube	HP:0011027
2187	FANCB	Retrognathia	HP:0000278
2187	FANCB	Inguinal hernia	HP:0000023
2187	FANCB	Polyhydramnios	HP:0001561
2187	FANCB	Oligohydramnios	HP:0001562
2187	FANCB	Azoospermia	HP:0000027
2187	FANCB	Cryptorchidism	HP:0000028
2187	FANCB	Hypopigmented skin patches	HP:0001053
2187	FANCB	Epicanthus	HP:0000286
2187	FANCB	Weight loss	HP:0001824
2187	FANCB	Atrioventricular canal defect	HP:0006695
2187	FANCB	Pulmonary hypoplasia	HP:0002089
2187	FANCB	Bicornuate uterus	HP:0000813
2187	FANCB	Myelodysplasia	HP:0002863
2187	FANCB	Hypospadias	HP:0000047
2187	FANCB	Absent thumb	HP:0009777
2187	FANCB	Aplasia/Hypoplasia of the uvula	HP:0010293
2187	FANCB	Abnormal lung lobation	HP:0002101
2187	FANCB	Microphthalmia	HP:0000568
2187	FANCB	Hypertelorism	HP:0000316
2187	FANCB	Absence of the sacrum	HP:0010305
2187	FANCB	Hyperreflexia	HP:0001347
2187	FANCB	Urethral atresia	HP:0000068
2187	FANCB	Facial asymmetry	HP:0000324
2187	FANCB	Upslanted palpebral fissure	HP:0000582
2187	FANCB	Ventriculomegaly	HP:0002119
2187	FANCB	Hydroureter	HP:0000072
2187	FANCB	Abnormality of the optic nerve	HP:0000587
2187	FANCB	Thrombocytopenia	HP:0001873
2187	FANCB	Renal insufficiency	HP:0000083
2187	FANCB	Sloping forehead	HP:0000340
2187	FANCB	Scoliosis	HP:0002650
2187	FANCB	Leukopenia	HP:0001882
2187	FANCB	Micrognathia	HP:0000347
2187	FANCB	Arrhinencephaly	HP:0002139
2187	FANCB	Atrial septal defect	HP:0001631
2187	FANCB	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2187	FANCB	Tetralogy of Fallot	HP:0001636
2187	FANCB	Aplasia/Hypoplasia of the radius	HP:0006501
2187	FANCB	Hypertrophic cardiomyopathy	HP:0001639
2187	FANCB	Renal agenesis	HP:0000104
2187	FANCB	Enlarged kidney	HP:0000105
2187	FANCB	Aqueductal stenosis	HP:0002410
2187	FANCB	Patent ductus arteriosus	HP:0001643
2187	FANCB	Isomerism	HP:0031853
2187	FANCB	Hearing impairment	HP:0000365
2187	FANCB	Spina bifida	HP:0002414
2187	FANCB	Abnormal aortic valve morphology	HP:0001646
2187	FANCB	Anemia	HP:0001903
2187	FANCB	Abnormality of the liver	HP:0001392
2187	FANCB	Clinodactyly of the 5th finger	HP:0004209
2187	FANCB	Low-set ears	HP:0000369
2187	FANCB	Aplasia/Hypoplasia of the iris	HP:0008053
2187	FANCB	Hemivertebrae	HP:0002937
2187	FANCB	Aplasia/Hypoplasia of fingers	HP:0006265
2187	FANCB	External ear malformation	HP:0008572
2187	FANCB	Hydronephrosis	HP:0000126
2187	FANCB	Nystagmus	HP:0000639
2187	FANCB	Transposition of the great arteries	HP:0001669
2187	FANCB	Absent radius	HP:0003974
2187	FANCB	Hypogonadism	HP:0000135
2187	FANCB	Hand polydactyly	HP:0001161
2187	FANCB	X-linked recessive inheritance	HP:0001419
2187	FANCB	Abnormal vertebral morphology	HP:0003468
2187	FANCB	Multiple cafe-au-lait spots	HP:0007565
2187	FANCB	Abnormal aortic morphology	HP:0001679
2187	FANCB	Pyridoxine-responsive sideroblastic anemia	HP:0005522
2187	FANCB	Abnormality of chromosome stability	HP:0003220
2187	FANCB	Proximal placement of thumb	HP:0009623
2187	FANCB	Clubbing of toes	HP:0100760
2187	FANCB	Abnormality of the vertebral column	HP:0000925
2187	FANCB	Short humerus	HP:0005792
2187	FANCB	Anotia	HP:0009892
2187	FANCB	Hypoplasia of the radius	HP:0002984
2187	FANCB	Cranial nerve paralysis	HP:0006824
2187	FANCB	Single umbilical artery	HP:0001195
2187	FANCB	Cleft palate	HP:0000175
2187	FANCB	Triphalangeal thumb	HP:0001199
2187	FANCB	Arteriovenous malformation	HP:0100026
2187	FANCB	Femoral hernia	HP:0100541
2187	FANCB	Abnormal localization of kidney	HP:0100542
2187	FANCB	Almond-shaped palpebral fissure	HP:0007874
2187	FANCB	Meckel diverticulum	HP:0002245
2187	FANCB	Choanal atresia	HP:0000453
2187	FANCB	Short palpebral fissure	HP:0012745
2187	FANCB	Aganglionic megacolon	HP:0002251
2187	FANCB	Hypoplasia of the ulna	HP:0003022
2187	FANCB	Finger syndactyly	HP:0006101
2187	FANCB	Frontal bossing	HP:0002007
2187	FANCB	Abnormality of cardiovascular system morphology	HP:0030680
2187	FANCB	High palate	HP:0000218
2187	FANCB	Abnormal carotid artery morphology	HP:0005344
2187	FANCB	Intellectual disability	HP:0001249
2187	FANCB	Microcornea	HP:0000482
2187	FANCB	Short stature	HP:0004322
2187	FANCB	Pes planus	HP:0001763
2187	FANCB	Astigmatism	HP:0000483
2187	FANCB	Absent testis	HP:0010469
2187	FANCB	Renal hypoplasia/aplasia	HP:0008678
2187	FANCB	Strabismus	HP:0000486
2187	FANCB	Growth delay	HP:0001510
2187	FANCB	Anal atresia	HP:0002023
2187	FANCB	Intrauterine growth retardation	HP:0001511
2187	FANCB	Irregular hyperpigmentation	HP:0007400
2187	FANCB	Toe syndactyly	HP:0001770
2187	FANCB	Abnormality of the preputium	HP:0100587
2187	FANCB	Hydrocephalus	HP:0000238
2187	FANCB	Global developmental delay	HP:0001263
2187	FANCB	Esophageal atresia	HP:0002032
2187	FANCB	Visual impairment	HP:0000505
2187	FANCB	Microcephaly	HP:0000252
2187	FANCB	Ptosis	HP:0000508
2187	FANCB	Reduced bone mineral density	HP:0004349
2188	FANCF	Umbilical hernia	HP:0001537
2188	FANCF	Duodenal stenosis	HP:0100867
2188	FANCF	Cataract	HP:0000518
2188	FANCF	Autosomal recessive inheritance	HP:0000007
2188	FANCF	Hypogonadism	HP:0000135
2188	FANCF	Abnormality of femur morphology	HP:0002823
2188	FANCF	Proptosis	HP:0000520
2188	FANCF	Decreased fertility in males	HP:0012041
2188	FANCF	Recurrent urinary tract infections	HP:0000010
2188	FANCF	Hip dislocation	HP:0002827
2188	FANCF	Dolichocephaly	HP:0000268
2188	FANCF	Multiple cafe-au-lait spots	HP:0007565
2188	FANCF	Tracheoesophageal fistula	HP:0002575
2188	FANCF	Abnormal aortic morphology	HP:0001679
2188	FANCF	Pyridoxine-responsive sideroblastic anemia	HP:0005522
2188	FANCF	Abnormality of chromosome stability	HP:0003220
2188	FANCF	Bone marrow hypocellularity	HP:0005528
2188	FANCF	Clubbing of toes	HP:0100760
2188	FANCF	Oligohydramnios	HP:0001562
2188	FANCF	Azoospermia	HP:0000027
2188	FANCF	Cryptorchidism	HP:0000028
2188	FANCF	Hypopigmented skin patches	HP:0001053
2188	FANCF	Epicanthus	HP:0000286
2188	FANCF	Weight loss	HP:0001824
2188	FANCF	Cranial nerve paralysis	HP:0006824
2188	FANCF	Bicornuate uterus	HP:0000813
2188	FANCF	Myelodysplasia	HP:0002863
2188	FANCF	Cleft palate	HP:0000175
2188	FANCF	Triphalangeal thumb	HP:0001199
2188	FANCF	Hypospadias	HP:0000047
2188	FANCF	Aplasia/Hypoplasia of the uvula	HP:0010293
2188	FANCF	Microphthalmia	HP:0000568
2188	FANCF	Arteriovenous malformation	HP:0100026
2188	FANCF	Hypertelorism	HP:0000316
2188	FANCF	Abnormal localization of kidney	HP:0100542
2188	FANCF	Almond-shaped palpebral fissure	HP:0007874
2188	FANCF	Hyperreflexia	HP:0001347
2188	FANCF	Facial asymmetry	HP:0000324
2188	FANCF	Meckel diverticulum	HP:0002245
2188	FANCF	Choanal atresia	HP:0000453
2188	FANCF	Upslanted palpebral fissure	HP:0000582
2188	FANCF	Ventriculomegaly	HP:0002119
2188	FANCF	Hydroureter	HP:0000072
2188	FANCF	Short palpebral fissure	HP:0012745
2188	FANCF	Aganglionic megacolon	HP:0002251
2188	FANCF	Hypoplasia of the ulna	HP:0003022
2188	FANCF	Thrombocytopenia	HP:0001873
2188	FANCF	Renal insufficiency	HP:0000083
2188	FANCF	Sloping forehead	HP:0000340
2188	FANCF	Finger syndactyly	HP:0006101
2188	FANCF	Frontal bossing	HP:0002007
2188	FANCF	Scoliosis	HP:0002650
2188	FANCF	Leukopenia	HP:0001882
2188	FANCF	High palate	HP:0000218
2188	FANCF	Micrognathia	HP:0000347
2188	FANCF	Atrial septal defect	HP:0001631
2188	FANCF	Abnormal carotid artery morphology	HP:0005344
2188	FANCF	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2188	FANCF	Intellectual disability	HP:0001249
2188	FANCF	Short stature	HP:0004322
2188	FANCF	Pes planus	HP:0001763
2188	FANCF	Astigmatism	HP:0000483
2188	FANCF	Tetralogy of Fallot	HP:0001636
2188	FANCF	Absent testis	HP:0010469
2188	FANCF	Aplasia/Hypoplasia of the radius	HP:0006501
2188	FANCF	Renal hypoplasia/aplasia	HP:0008678
2188	FANCF	Strabismus	HP:0000486
2188	FANCF	Anal atresia	HP:0002023
2188	FANCF	Intrauterine growth retardation	HP:0001511
2188	FANCF	Hypertrophic cardiomyopathy	HP:0001639
2188	FANCF	Irregular hyperpigmentation	HP:0007400
2188	FANCF	Toe syndactyly	HP:0001770
2188	FANCF	Abnormality of the preputium	HP:0100587
2188	FANCF	Patent ductus arteriosus	HP:0001643
2188	FANCF	Hearing impairment	HP:0000365
2188	FANCF	Abnormal aortic valve morphology	HP:0001646
2188	FANCF	Spina bifida	HP:0002414
2188	FANCF	Hydrocephalus	HP:0000238
2188	FANCF	Global developmental delay	HP:0001263
2188	FANCF	Abnormality of the liver	HP:0001392
2188	FANCF	Clinodactyly of the 5th finger	HP:0004209
2188	FANCF	Aplasia/Hypoplasia of the iris	HP:0008053
2188	FANCF	Visual impairment	HP:0000505
2188	FANCF	Aplasia/Hypoplasia of fingers	HP:0006265
2188	FANCF	Microcephaly	HP:0000252
2188	FANCF	Ptosis	HP:0000508
2188	FANCF	External ear malformation	HP:0008572
2188	FANCF	Reduced bone mineral density	HP:0004349
2188	FANCF	Nystagmus	HP:0000639
10381	TUBB3	Macrocephaly	HP:0000256
10381	TUBB3	Joint contracture of the hand	HP:0009473
10381	TUBB3	Facial palsy	HP:0010628
10381	TUBB3	Autosomal dominant inheritance	HP:0000006
10381	TUBB3	Hypoplasia of the olfactory bulb	HP:0040326
10381	TUBB3	Amblyopia	HP:0000646
10381	TUBB3	Large basal ganglia	HP:0007048
10381	TUBB3	Camptodactyly of finger	HP:0100490
10381	TUBB3	Dysgenesis of the hippocampus	HP:0025101
10381	TUBB3	Oculomotor apraxia	HP:0000657
10381	TUBB3	Delayed social development	HP:0012434
10381	TUBB3	Peripheral axonal neuropathy	HP:0003477
10381	TUBB3	Cubitus valgus	HP:0002967
10381	TUBB3	Simplified gyral pattern	HP:0009879
10381	TUBB3	Nonprogressive restrictive external ophthalmoplegia	HP:0007831
10381	TUBB3	Small basal ganglia	HP:0012697
10381	TUBB3	Epicanthus	HP:0000286
10381	TUBB3	Hypoplasia of the corpus callosum	HP:0002079
10381	TUBB3	Poor speech	HP:0002465
10381	TUBB3	Intellectual disability, moderate	HP:0002342
10381	TUBB3	Abnormality of thalamus morphology	HP:0010663
10381	TUBB3	Mood changes	HP:0001575
10381	TUBB3	Normal pressure hydrocephalus	HP:0002343
10381	TUBB3	Feeding difficulties in infancy	HP:0008872
10381	TUBB3	Cerebellar vermis hypoplasia	HP:0001320
10381	TUBB3	Genu valgum	HP:0002857
10381	TUBB3	Cerebellar hypoplasia	HP:0001321
10381	TUBB3	Expressive language delay	HP:0002474
10381	TUBB3	Bilateral sensorineural hearing impairment	HP:0008619
10381	TUBB3	Dilation of lateral ventricles	HP:0006956
10381	TUBB3	Abnormal autonomic nervous system physiology	HP:0012332
10381	TUBB3	Metatarsus adductus	HP:0001840
10381	TUBB3	Insomnia	HP:0100785
10381	TUBB3	Specific learning disability	HP:0001328
10381	TUBB3	Esotropia	HP:0000565
10381	TUBB3	Grasp reflex	HP:0030903
10381	TUBB3	Partial agenesis of the corpus callosum	HP:0001338
10381	TUBB3	Abnormal saccadic eye movements	HP:0000570
10381	TUBB3	Lissencephaly	HP:0001339
10381	TUBB3	Congenital microcephaly	HP:0011451
10381	TUBB3	Visual loss	HP:0000572
10381	TUBB3	Hypoplasia of the brainstem	HP:0002365
10381	TUBB3	Kyphoscoliosis	HP:0002751
10381	TUBB3	Postnatal growth retardation	HP:0008897
10381	TUBB3	Spastic ataxia	HP:0002497
10381	TUBB3	Exotropia	HP:0000577
10381	TUBB3	Compensatory chin elevation	HP:0001477
10381	TUBB3	Abnormal best corrected visual acuity test	HP:0030534
10381	TUBB3	Plagiocephaly	HP:0001357
10381	TUBB3	Polymicrogyria	HP:0002126
10381	TUBB3	Spastic tetraplegia	HP:0002510
10381	TUBB3	Severe global developmental delay	HP:0011344
10381	TUBB3	Bilateral ptosis	HP:0001488
10381	TUBB3	Levator palpebrae superioris atrophy	HP:0012241
10381	TUBB3	Superior rectus atrophy	HP:0012242
10381	TUBB3	Congenital fibrosis of extraocular muscles	HP:0001491
10381	TUBB3	Wrist flexion contracture	HP:0001239
10381	TUBB3	Torticollis	HP:0000473
10381	TUBB3	High palate	HP:0000218
10381	TUBB3	Micrognathia	HP:0000347
10381	TUBB3	Type II lissencephaly	HP:0007260
10381	TUBB3	Flat occiput	HP:0005469
10381	TUBB3	Stereotypy	HP:0000733
10381	TUBB3	Agenesis of the anterior commissure	HP:0030302
10381	TUBB3	Impaired social interactions	HP:0000735
10381	TUBB3	Short attention span	HP:0000736
10381	TUBB3	Impaired mastication	HP:0005216
10381	TUBB3	Optic nerve hypoplasia	HP:0000609
10381	TUBB3	Intellectual disability	HP:0001249
10381	TUBB3	Seizures	HP:0001250
10381	TUBB3	Strabismus	HP:0000486
10381	TUBB3	Infantile axial hypotonia	HP:0009062
10381	TUBB3	Muscular hypotonia of the trunk	HP:0008936
10381	TUBB3	Focal seizures, afebril	HP:0040168
10381	TUBB3	Spasticity	HP:0001257
10381	TUBB3	Cortical dysplasia	HP:0002539
10381	TUBB3	Dysarthria	HP:0001260
10381	TUBB3	Inability to walk	HP:0002540
10381	TUBB3	Joint laxity	HP:0001388
10381	TUBB3	Short foot	HP:0001773
10381	TUBB3	Delayed fine motor development	HP:0010862
10381	TUBB3	Downslanted palpebral fissures	HP:0000494
10381	TUBB3	Global developmental delay	HP:0001263
10381	TUBB3	Spastic diplegia	HP:0001264
10381	TUBB3	Low-set ears	HP:0000369
10381	TUBB3	Variable expressivity	HP:0003828
10381	TUBB3	Small hand	HP:0200055
10381	TUBB3	Delayed ability to sit	HP:0025336
10381	TUBB3	Congenital onset	HP:0003577
10381	TUBB3	Agenesis of corpus callosum	HP:0001274
10381	TUBB3	Microcephaly	HP:0000252
10381	TUBB3	Ptosis	HP:0000508
10381	TUBB3	Nystagmus	HP:0000639
10381	TUBB3	Thoracic scoliosis	HP:0002943
2189	FANCG	Umbilical hernia	HP:0001537
2189	FANCG	Duodenal stenosis	HP:0100867
2189	FANCG	Cataract	HP:0000518
2189	FANCG	Hypogonadism	HP:0000135
2189	FANCG	Abnormality of femur morphology	HP:0002823
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	Abnormal thumb morphology	HP:0001172
2189	FANCG	Abnormality of chromosome stability	HP:0003220
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	Cleft palate	HP:0000175
2189	FANCG	Triphalangeal thumb	HP:0001199
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	Leukopenia	HP:0001882
2189	FANCG	High palate	HP:0000218
2189	FANCG	Micrognathia	HP:0000347
2189	FANCG	Atrial septal defect	HP:0001631
2189	FANCG	Abnormal carotid artery morphology	HP:0005344
2189	FANCG	Abnormality of the hypothalamus-pituitary axis	HP:0000864
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	Absent testis	HP:0010469
2189	FANCG	Aplasia/Hypoplasia of the radius	HP:0006501
2189	FANCG	Growth delay	HP:0001510
2189	FANCG	Renal hypoplasia/aplasia	HP:0008678
2189	FANCG	Strabismus	HP:0000486
2189	FANCG	Anal atresia	HP:0002023
2189	FANCG	Intrauterine growth retardation	HP:0001511
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	Abnormal aortic valve morphology	HP:0001646
2189	FANCG	Spina bifida	HP:0002414
2189	FANCG	Hydrocephalus	HP:0000238
2189	FANCG	Anemia	HP:0001903
2189	FANCG	Global developmental delay	HP:0001263
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	Visual impairment	HP:0000505
2189	FANCG	Aplasia/Hypoplasia of fingers	HP:0006265
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
10382	TUBB4A	Open mouth	HP:0000194
10382	TUBB4A	Blepharospasm	HP:0000643
10382	TUBB4A	Autosomal dominant inheritance	HP:0000006
10382	TUBB4A	Eunuchoid habitus	HP:0003782
10382	TUBB4A	Autosomal recessive inheritance	HP:0000007
10382	TUBB4A	Optic atrophy	HP:0000648
10382	TUBB4A	Gait disturbance	HP:0001288
10382	TUBB4A	Rigidity	HP:0002063
10382	TUBB4A	Laryngeal dystonia	HP:0012049
10382	TUBB4A	Sunken cheeks	HP:0009938
10382	TUBB4A	Dysphonia	HP:0001618
10382	TUBB4A	Gait ataxia	HP:0002066
10382	TUBB4A	Narrow face	HP:0000275
10382	TUBB4A	Limb dystonia	HP:0002451
10382	TUBB4A	Dementia	HP:0000726
10382	TUBB4A	Cerebral hypomyelination	HP:0006808
10382	TUBB4A	Torsion dystonia	HP:0001304
10382	TUBB4A	Torticollis	HP:0000473
10382	TUBB4A	Dysdiadochokinesis	HP:0002075
10382	TUBB4A	Progressive	HP:0003676
10382	TUBB4A	Generalized dystonia	HP:0007325
10382	TUBB4A	Dysphagia	HP:0002015
10382	TUBB4A	Intellectual disability	HP:0001249
10382	TUBB4A	Poor speech	HP:0002465
10382	TUBB4A	Sporadic	HP:0003745
10382	TUBB4A	Short stature	HP:0004322
10382	TUBB4A	Seizures	HP:0001250
10382	TUBB4A	Ataxia	HP:0001251
10382	TUBB4A	Muscular hypotonia of the trunk	HP:0008936
10382	TUBB4A	Spasticity	HP:0001257
10382	TUBB4A	Dysarthria	HP:0001260
10382	TUBB4A	Hearing impairment	HP:0000365
10382	TUBB4A	Delayed speech and language development	HP:0000750
10382	TUBB4A	Leukodystrophy	HP:0002415
10382	TUBB4A	Specific learning disability	HP:0001328
10382	TUBB4A	Choreoathetosis	HP:0001266
10382	TUBB4A	Respiratory distress	HP:0002098
10382	TUBB4A	Variable expressivity	HP:0003828
10382	TUBB4A	Dystonia	HP:0001332
10382	TUBB4A	Motor delay	HP:0001270
10382	TUBB4A	Movement abnormality of the tongue	HP:0000182
10382	TUBB4A	Upper limb postural tremor	HP:0007351
10382	TUBB4A	Cerebellar atrophy	HP:0001272
10382	TUBB4A	Visual impairment	HP:0000505
10382	TUBB4A	Tremor	HP:0001337
10382	TUBB4A	Microcephaly	HP:0000252
10382	TUBB4A	Nystagmus	HP:0000639
10382	TUBB4A	Kyphoscoliosis	HP:0002751
10383	TUBB4B	Retinal degeneration	HP:0000546
10383	TUBB4B	High hypermetropia	HP:0008499
10383	TUBB4B	Reduced visual acuity	HP:0007663
2192	FBLN1	Tarsal synostosis	HP:0008368
2192	FBLN1	Metatarsal synostosis	HP:0001440
2192	FBLN1	Metacarpal synostosis	HP:0009701
2192	FBLN1	Autosomal dominant inheritance	HP:0000006
2192	FBLN1	Carpal synostosis	HP:0009702
2192	FBLN1	Toe syndactyly	HP:0001770
2192	FBLN1	Polydactyly	HP:0010442
2196	FAT2	Gait ataxia	HP:0002066
2196	FAT2	Limb ataxia	HP:0002070
2196	FAT2	Autosomal dominant inheritance	HP:0000006
2196	FAT2	Cerebellar atrophy	HP:0001272
2196	FAT2	Dysarthria	HP:0001260
2196	FAT2	Adult onset	HP:0003581
2196	FAT2	Slow progression	HP:0003677
2200	FBN1	Umbilical hernia	HP:0001537
2200	FBN1	Autosomal dominant inheritance	HP:0000006
2200	FBN1	Cataract	HP:0000518
2200	FBN1	Proptosis	HP:0000520
2200	FBN1	Abnormality iris morphology	HP:0000525
2200	FBN1	Long eyelashes	HP:0000527
2200	FBN1	Premature osteoarthritis	HP:0003088
2200	FBN1	Mitral annular calcification	HP:0005136
2200	FBN1	Abnormal eyebrow morphology	HP:0000534
2200	FBN1	Inguinal hernia	HP:0000023
2200	FBN1	Midface retrusion	HP:0011800
2200	FBN1	Oligohydramnios	HP:0001562
2200	FBN1	Cryptorchidism	HP:0000028
2200	FBN1	Retinal detachment	HP:0000541
2200	FBN1	Decreased testicular size	HP:0008734
2200	FBN1	Myopia	HP:0000545
2200	FBN1	Broad phalanges of the hand	HP:0009768
2200	FBN1	Striae distensae	HP:0001065
2200	FBN1	Left ventricular dysfunction	HP:0005162
2200	FBN1	Abnormal echocardiogram	HP:0003116
2200	FBN1	Pulmonary arterial hypertension	HP:0002092
2200	FBN1	Respiratory insufficiency	HP:0002093
2200	FBN1	Abnormal circulating lipid concentration	HP:0003119
2200	FBN1	Thickened skin	HP:0001072
2200	FBN1	Emphysema	HP:0002097
2200	FBN1	Short thumb	HP:0009778
2200	FBN1	Esotropia	HP:0000565
2200	FBN1	Aortic root aneurysm	HP:0002616
2200	FBN1	Apnea	HP:0002104
2200	FBN1	Hemoptysis	HP:0002105
2200	FBN1	Ectopia lentis	HP:0001083
2200	FBN1	Pneumothorax	HP:0002107
2200	FBN1	Joint hyperflexibility	HP:0005692
2200	FBN1	Visual loss	HP:0000572
2200	FBN1	Tricuspid regurgitation	HP:0005180
2200	FBN1	Exotropia	HP:0000577
2200	FBN1	Ventriculomegaly	HP:0002119
2200	FBN1	Hoarse voice	HP:0001609
2200	FBN1	Shallow orbits	HP:0000586
2200	FBN1	Short phalanx of finger	HP:0009803
2200	FBN1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
2200	FBN1	Scaphocephaly	HP:0030799
2200	FBN1	Blue sclerae	HP:0000592
2200	FBN1	Shallow anterior chamber	HP:0000594
2200	FBN1	Neonatal respiratory distress	HP:0002643
2200	FBN1	Premature birth	HP:0001622
2200	FBN1	Aortic dissection	HP:0002647
2200	FBN1	Subarachnoid hemorrhage	HP:0002138
2200	FBN1	Scoliosis	HP:0002650
2200	FBN1	Ischemic stroke	HP:0002140
2200	FBN1	Ventricular septal defect	HP:0001629
2200	FBN1	Tall stature	HP:0000098
2200	FBN1	Mitral valve prolapse	HP:0001634
2200	FBN1	Congestive heart failure	HP:0001635
2200	FBN1	Peripheral neuropathy	HP:0009830
2200	FBN1	Cardiomegaly	HP:0001640
2200	FBN1	Pulmonic stenosis	HP:0001642
2200	FBN1	Blindness	HP:0000618
2200	FBN1	Patent ductus arteriosus	HP:0001643
2200	FBN1	Protrusio acetabuli	HP:0003179
2200	FBN1	Abnormal aortic valve morphology	HP:0001646
2200	FBN1	Bicuspid aortic valve	HP:0001647
2200	FBN1	Aortic valve stenosis	HP:0001650
2200	FBN1	Mitral regurgitation	HP:0001653
2200	FBN1	Increased axial length of the globe	HP:0007800
2200	FBN1	Broad skull	HP:0002682
2200	FBN1	Aortic regurgitation	HP:0001659
2200	FBN1	Short nose	HP:0003196
2200	FBN1	Prenatal maternal abnormality	HP:0002686
2200	FBN1	Decreased muscle mass	HP:0003199
2200	FBN1	Nystagmus	HP:0000639
2200	FBN1	Hypoxemia	HP:0012418
2200	FBN1	Brachydactyly	HP:0001156
2200	FBN1	Amblyopia	HP:0000646
2200	FBN1	Camptodactyly of finger	HP:0100490
2200	FBN1	Coronary artery atherosclerosis	HP:0001677
2200	FBN1	Arachnodactyly	HP:0001166
2200	FBN1	High, narrow palate	HP:0002705
2200	FBN1	Broad palm	HP:0001169
2200	FBN1	Toe walking	HP:0040083
2200	FBN1	Adducted thumb	HP:0001181
2200	FBN1	Narrow mouth	HP:0000160
2200	FBN1	Impaired pain sensation	HP:0007328
2200	FBN1	Depressed nasal bridge	HP:0005280
2200	FBN1	Hyperextensibility of the finger joints	HP:0001187
2200	FBN1	Dental crowding	HP:0000678
2200	FBN1	Tricuspid valve prolapse	HP:0001704
2200	FBN1	Crumpled ear	HP:0009901
2200	FBN1	Reduced subcutaneous adipose tissue	HP:0003758
2200	FBN1	Abnormal cardiac ventricle morphology	HP:0001713
2200	FBN1	Thick lower lip vermilion	HP:0000179
2200	FBN1	Misalignment of teeth	HP:0000692
2200	FBN1	Mitral stenosis	HP:0001718
2200	FBN1	Short palm	HP:0004279
2200	FBN1	Narrow palate	HP:0000189
2200	FBN1	Delayed skeletal maturation	HP:0002750
2200	FBN1	Cognitive impairment	HP:0100543
2200	FBN1	Ectopia pupillae	HP:0009918
2200	FBN1	Kyphoscoliosis	HP:0002751
2200	FBN1	Feeding difficulties	HP:0011968
2200	FBN1	Hepatomegaly	HP:0002240
2200	FBN1	Thin bony cortex	HP:0002753
2200	FBN1	Broad metacarpals	HP:0001230
2200	FBN1	Descending aortic dissection	HP:0012499
2200	FBN1	High palate	HP:0000218
2200	FBN1	Thin upper lip vermilion	HP:0000219
2200	FBN1	Intellectual disability	HP:0001249
2200	FBN1	Pes cavus	HP:0001761
2200	FBN1	Short stature	HP:0004322
2200	FBN1	Pes planus	HP:0001763
2200	FBN1	Lipoatrophy	HP:0100578
2200	FBN1	Ovoid vertebral bodies	HP:0003300
2200	FBN1	Muscular hypotonia	HP:0001252
2200	FBN1	Hammertoe	HP:0001765
2200	FBN1	Spondylolisthesis	HP:0003302
2200	FBN1	Intellectual disability, mild	HP:0001256
2200	FBN1	Short foot	HP:0001773
2200	FBN1	Hydrocephalus	HP:0000238
2200	FBN1	Abnormal form of the vertebral bodies	HP:0003312
2200	FBN1	Hyporeflexia	HP:0001265
2200	FBN1	Microspherophakia	HP:0030961
2200	FBN1	Motor delay	HP:0001270
2200	FBN1	Broad metatarsal	HP:0001783
2200	FBN1	Brachycephaly	HP:0000248
2200	FBN1	Decreased nerve conduction velocity	HP:0000762
2200	FBN1	High myopia	HP:0011003
2200	FBN1	Microcephaly	HP:0000252
2200	FBN1	Abnormality of the sternum	HP:0000766
2200	FBN1	Pectus excavatum	HP:0000767
2200	FBN1	Macrocephaly	HP:0000256
2200	FBN1	Pectus carinatum	HP:0000768
2200	FBN1	Genu recurvatum	HP:0002816
2200	FBN1	Arnold-Chiari malformation	HP:0002308
2200	FBN1	Narrow chest	HP:0000774
2200	FBN1	Abnormality of femur morphology	HP:0002823
2200	FBN1	Incisional hernia	HP:0004872
2200	FBN1	Fifth metacarpal with ulnar notch	HP:0005900
2200	FBN1	Dolichocephaly	HP:0000268
2200	FBN1	Long toe	HP:0010511
2200	FBN1	Malar flattening	HP:0000272
2200	FBN1	Enlarged thorax	HP:0100625
2200	FBN1	Nephrolithiasis	HP:0000787
2200	FBN1	Narrow face	HP:0000275
2200	FBN1	Long face	HP:0000276
2200	FBN1	Retrognathia	HP:0000278
2200	FBN1	Transient ischemic attack	HP:0002326
2200	FBN1	Full cheeks	HP:0000293
2200	FBN1	Genu valgum	HP:0002857
2200	FBN1	Abnormality of epiphysis morphology	HP:0005930
2200	FBN1	Muscle weakness	HP:0001324
2200	FBN1	Mandibular prognathia	HP:0000303
2200	FBN1	Hypertension	HP:0000822
2200	FBN1	Communicating hydrocephalus	HP:0001334
2200	FBN1	Round face	HP:0000311
2200	FBN1	Exertional dyspnea	HP:0002875
2200	FBN1	Hypertelorism	HP:0000316
2200	FBN1	Pulmonary artery dilatation	HP:0004927
2200	FBN1	Smooth philtrum	HP:0000319
2200	FBN1	Short metacarpal	HP:0010049
2200	FBN1	Ascending aortic dissection	HP:0004933
2200	FBN1	Lack of skin elasticity	HP:0100679
2200	FBN1	Hypoplasia of the maxilla	HP:0000327
2200	FBN1	Aortic aneurysm	HP:0004942
2200	FBN1	Dilatation of the cerebral artery	HP:0004944
2200	FBN1	Abnormality of dental morphology	HP:0006482
2200	FBN1	Craniosynostosis	HP:0001363
2200	FBN1	Cone-shaped epiphysis	HP:0010579
2200	FBN1	Iridodonesis	HP:0100693
2200	FBN1	Peripheral arterial stenosis	HP:0004950
2200	FBN1	Long philtrum	HP:0000343
2200	FBN1	Spinal canal stenosis	HP:0003416
2200	FBN1	Type II diabetes mellitus	HP:0005978
2200	FBN1	Flexion contracture	HP:0001371
2200	FBN1	Micrognathia	HP:0000347
2200	FBN1	High forehead	HP:0000348
2200	FBN1	Descending thoracic aorta aneurysm	HP:0004959
2200	FBN1	Limitation of joint mobility	HP:0001376
2200	FBN1	Hypovolemia	HP:0011106
2200	FBN1	Stiff skin	HP:0030053
2200	FBN1	Posteriorly rotated ears	HP:0000358
2200	FBN1	Joint hypermobility	HP:0001382
2200	FBN1	Ascending tubular aorta aneurysm	HP:0004970
2200	FBN1	Joint stiffness	HP:0001387
2200	FBN1	Low-set ears	HP:0000369
2200	FBN1	Small hand	HP:0200055
2200	FBN1	Broad ribs	HP:0000885
2200	FBN1	Lumbar hyperlordosis	HP:0002938
2200	FBN1	Aplasia/Hypoplasia of the skin	HP:0008065
2200	FBN1	Carotid artery dilatation	HP:0012163
2200	FBN1	Chest pain	HP:0100749
2200	FBN1	Pes valgus	HP:0008081
2200	FBN1	Conductive hearing impairment	HP:0000405
2200	FBN1	Sensorineural hearing impairment	HP:0000407
2200	FBN1	Missing ribs	HP:0000921
2200	FBN1	Protruding ear	HP:0000411
2200	FBN1	Bulbous nose	HP:0000414
2200	FBN1	Lipodystrophy	HP:0009125
2200	FBN1	Dural ectasia	HP:0100775
2200	FBN1	Prominent nasal bridge	HP:0000426
2200	FBN1	Osteopenia	HP:0000938
2200	FBN1	Wide nasal bridge	HP:0000431
2200	FBN1	Abnormality of the metaphysis	HP:0000944
2200	FBN1	Proportionate short stature	HP:0003508
2200	FBN1	Severe short stature	HP:0003510
2200	FBN1	Talipes calcaneovarus	HP:0008124
2200	FBN1	Medial rotation of the medial malleolus	HP:0008132
2200	FBN1	Heart murmur	HP:0030148
2200	FBN1	Cutis marmorata	HP:0000965
2200	FBN1	Subcutaneous nodule	HP:0001482
2200	FBN1	Narrow nose	HP:0000460
2200	FBN1	Cutis laxa	HP:0000973
2200	FBN1	Hyperextensible skin	HP:0000974
2200	FBN1	Anteverted nares	HP:0000463
2200	FBN1	Mucoid extracellular matrix accumulation	HP:0200146
2200	FBN1	Bruising susceptibility	HP:0000978
2200	FBN1	Deep philtrum	HP:0002002
2200	FBN1	Short long bone	HP:0003026
2200	FBN1	Prominent forehead	HP:0011220
2200	FBN1	Frontal bossing	HP:0002007
2200	FBN1	Paroxysmal dyspnea	HP:0012763
2200	FBN1	Elbow dislocation	HP:0003042
2200	FBN1	Increased arm span	HP:0012771
2200	FBN1	Gastroesophageal reflux	HP:0002020
2200	FBN1	Failure to thrive	HP:0001508
2200	FBN1	Megalocornea	HP:0000485
2200	FBN1	Strabismus	HP:0000486
2200	FBN1	Intrauterine growth retardation	HP:0001511
2200	FBN1	Deeply set eye	HP:0000490
2200	FBN1	Downslanted palpebral fissures	HP:0000494
2200	FBN1	Small for gestational age	HP:0001518
2200	FBN1	Disproportionate tall stature	HP:0001519
2200	FBN1	Hypertropia	HP:0025586
2200	FBN1	Glaucoma	HP:0000501
2200	FBN1	Abdominal aortic aneurysm	HP:0005112
2200	FBN1	Telecanthus	HP:0000506
2200	FBN1	Ptosis	HP:0000508
2200	FBN1	Hypoplasia of the iris	HP:0007676
2201	FBN2	Pectus carinatum	HP:0000768
2201	FBN2	Calf muscle hypoplasia	HP:0008962
2201	FBN2	Patellar subluxation	HP:0010499
2201	FBN2	Congenital kyphoscoliosis	HP:0008453
2201	FBN2	Autosomal dominant inheritance	HP:0000006
2201	FBN2	Intestinal malrotation	HP:0002566
2201	FBN2	Duodenal atresia	HP:0002247
2201	FBN2	Hip contracture	HP:0003273
2201	FBN2	Camptodactyly of finger	HP:0100490
2201	FBN2	Dolichocephaly	HP:0000268
2201	FBN2	Arachnodactyly	HP:0001166
2201	FBN2	Aortic aneurysm	HP:0004942
2201	FBN2	Tracheoesophageal fistula	HP:0002575
2201	FBN2	Scaphocephaly	HP:0030799
2201	FBN2	Short neck	HP:0000470
2201	FBN2	Frontal bossing	HP:0002007
2201	FBN2	High palate	HP:0000218
2201	FBN2	Micrognathia	HP:0000347
2201	FBN2	Adducted thumb	HP:0001181
2201	FBN2	Ventricular septal defect	HP:0001629
2201	FBN2	Atrial septal defect	HP:0001631
2201	FBN2	Macular degeneration	HP:0000608
2201	FBN2	Abnormally folded helix	HP:0008544
2201	FBN2	Myopia	HP:0000545
2201	FBN2	Mitral valve prolapse	HP:0001634
2201	FBN2	Talipes equinovarus	HP:0001762
2201	FBN2	Osteopenia	HP:0000938
2201	FBN2	Joint stiffness	HP:0001387
2201	FBN2	Elbow flexion contracture	HP:0002987
2201	FBN2	Patent ductus arteriosus	HP:0001643
2201	FBN2	Knee flexion contracture	HP:0006380
2201	FBN2	Crumpled ear	HP:0009901
2201	FBN2	Reduced visual acuity	HP:0007663
2201	FBN2	Disproportionate tall stature	HP:0001519
2201	FBN2	Bicuspid aortic valve	HP:0001647
2201	FBN2	Metatarsus adductus	HP:0001840
2201	FBN2	Choroidal neovascularization	HP:0011506
2201	FBN2	Arthrogryposis multiplex congenita	HP:0002804
2201	FBN2	Distal arthrogryposis	HP:0005684
2201	FBN2	Mitral regurgitation	HP:0001653
2201	FBN2	Motor delay	HP:0001270
2201	FBN2	Patellar dislocation	HP:0002999
2201	FBN2	Brachycephaly	HP:0000248
2201	FBN2	Aortic root aneurysm	HP:0002616
2201	FBN2	Ulnar deviation of finger	HP:0009465
2201	FBN2	Ectopia lentis	HP:0001083
2201	FBN2	Slender build	HP:0001533
2201	FBN2	Kyphoscoliosis	HP:0002751
2202	EFEMP1	Reticular pigmentary degeneration	HP:0007937
2202	EFEMP1	Autosomal dominant inheritance	HP:0000006
2202	EFEMP1	Visual impairment	HP:0000505
2202	EFEMP1	Retinal dystrophy	HP:0000556
2203	FBP1	Hepatomegaly	HP:0002240
2203	FBP1	Irritability	HP:0000737
2203	FBP1	Seizures	HP:0001250
2203	FBP1	Hyperventilation	HP:0002883
2203	FBP1	Muscular hypotonia	HP:0001252
2203	FBP1	Lethargy	HP:0001254
2203	FBP1	Autosomal recessive inheritance	HP:0000007
2203	FBP1	Generalized hypotonia	HP:0001290
2203	FBP1	Coma	HP:0001259
2203	FBP1	Increased urinary glycerol	HP:0040301
2203	FBP1	Dyspnea	HP:0002094
2203	FBP1	Tachycardia	HP:0001649
2203	FBP1	Metabolic acidosis	HP:0001942
2203	FBP1	Hypoglycemia	HP:0001943
2203	FBP1	Apnea	HP:0002104
2203	FBP1	Fever	HP:0001945
2203	FBP1	Ketosis	HP:0001946
10395	DLC1	Renal cell carcinoma	HP:0005584
10395	DLC1	Neoplasm of the stomach	HP:0006753
10395	DLC1	Somatic mutation	HP:0001428
10395	DLC1	Transitional cell carcinoma of the bladder	HP:0006740
10395	DLC1	Autosomal dominant inheritance	HP:0000006
10395	DLC1	Uterine leiomyosarcoma	HP:0002891
10395	DLC1	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
10397	NDRG1	Abnormality of the hand	HP:0001155
10397	NDRG1	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	HP:0006916
10397	NDRG1	Areflexia	HP:0001284
10397	NDRG1	Juvenile onset	HP:0003621
10397	NDRG1	Autosomal recessive inheritance	HP:0000007
10397	NDRG1	Gait disturbance	HP:0001288
10397	NDRG1	Abnormality of visual evoked potentials	HP:0000649
10397	NDRG1	Hearing impairment	HP:0000365
10397	NDRG1	Distal amyotrophy	HP:0003693
10397	NDRG1	Abnormal auditory evoked potentials	HP:0006958
10397	NDRG1	Hyporeflexia	HP:0001265
10397	NDRG1	Onion bulb formation	HP:0003383
10397	NDRG1	Axonal loss	HP:0003447
10397	NDRG1	Talipes cavus equinovarus	HP:0004696
10397	NDRG1	Distal sensory impairment	HP:0002936
10397	NDRG1	Segmental peripheral demyelination/remyelination	HP:0003481
10397	NDRG1	Decreased nerve conduction velocity	HP:0000762
10397	NDRG1	Distal muscle weakness	HP:0002460
84126	ATRIP	Absent earlobe	HP:0000387
84126	ATRIP	Prematurely aged appearance	HP:0007495
84126	ATRIP	Reduced number of teeth	HP:0009804
84126	ATRIP	Mild global developmental delay	HP:0011342
84126	ATRIP	Narrow face	HP:0000275
84126	ATRIP	Craniosynostosis	HP:0001363
84126	ATRIP	Cone-shaped epiphysis	HP:0010579
84126	ATRIP	Scoliosis	HP:0002650
84126	ATRIP	Micrognathia	HP:0000347
84126	ATRIP	Intellectual disability	HP:0001249
84126	ATRIP	Sparse scalp hair	HP:0002209
84126	ATRIP	Short stature	HP:0004322
84126	ATRIP	Cachexia	HP:0004326
84126	ATRIP	Intrauterine growth retardation	HP:0001511
84126	ATRIP	Hip dysplasia	HP:0001385
84126	ATRIP	Abnormality of dental enamel	HP:0000682
84126	ATRIP	Downslanted palpebral fissures	HP:0000494
84126	ATRIP	Clinodactyly of the 5th finger	HP:0004209
84126	ATRIP	Glaucoma	HP:0000501
84126	ATRIP	Convex nasal ridge	HP:0000444
84126	ATRIP	Microcephaly	HP:0000252
84126	ATRIP	Sandal gap	HP:0001852
84126	ATRIP	Joint hyperflexibility	HP:0005692
84126	ATRIP	Delayed skeletal maturation	HP:0002750
84126	ATRIP	Cognitive impairment	HP:0100543
51360	MBTPS2	Pectus carinatum	HP:0000768
51360	MBTPS2	Urticaria	HP:0001025
51360	MBTPS2	Umbilical hernia	HP:0001537
51360	MBTPS2	Omphalocele	HP:0001539
51360	MBTPS2	Multicystic kidney dysplasia	HP:0000003
51360	MBTPS2	Abnormality of the ribs	HP:0000772
51360	MBTPS2	Epidermal acanthosis	HP:0025092
51360	MBTPS2	Posterior blepharitis	HP:0025610
51360	MBTPS2	Hip dislocation	HP:0002827
51360	MBTPS2	Hypoplastic fingernail	HP:0001804
51360	MBTPS2	Parakeratosis	HP:0001036
51360	MBTPS2	Facial erythema	HP:0001041
51360	MBTPS2	Thin eyebrow	HP:0045074
51360	MBTPS2	Hyperconvex fingernails	HP:0001812
51360	MBTPS2	Corneal opacity	HP:0007957
51360	MBTPS2	Inguinal hernia	HP:0000023
51360	MBTPS2	Sparse and thin eyebrow	HP:0000535
51360	MBTPS2	Oligohydramnios	HP:0001562
51360	MBTPS2	Cryptorchidism	HP:0000028
51360	MBTPS2	Decreased testicular size	HP:0008734
51360	MBTPS2	Erythema	HP:0010783
51360	MBTPS2	Hypoplasia of the corpus callosum	HP:0002079
51360	MBTPS2	Myopia	HP:0000545
51360	MBTPS2	Ankylosis	HP:0031013
51360	MBTPS2	Cerebellar hypoplasia	HP:0001321
51360	MBTPS2	Uveitis	HP:0000554
51360	MBTPS2	Melanoma	HP:0002861
51360	MBTPS2	Specific learning disability	HP:0001328
51360	MBTPS2	Absent eyelashes	HP:0000561
51360	MBTPS2	Absent septum pellucidum	HP:0001331
51360	MBTPS2	Microphthalmia	HP:0000568
51360	MBTPS2	Alopecia	HP:0001596
51360	MBTPS2	Abnormality of the nail	HP:0001597
51360	MBTPS2	Ventriculomegaly	HP:0002119
51360	MBTPS2	Developmental regression	HP:0002376
51360	MBTPS2	Hydroureter	HP:0000072
51360	MBTPS2	Vesicoureteral reflux	HP:0000076
51360	MBTPS2	Plagiocephaly	HP:0001357
51360	MBTPS2	Follicular hyperkeratosis	HP:0007502
51360	MBTPS2	Opacification of the corneal stroma	HP:0007759
51360	MBTPS2	Skin fissure	HP:0031057
51360	MBTPS2	Corneal erosion	HP:0200020
51360	MBTPS2	Renal hypoplasia	HP:0000089
51360	MBTPS2	Scoliosis	HP:0002650
51360	MBTPS2	Optic nerve hypoplasia	HP:0000609
51360	MBTPS2	Papule	HP:0200034
51360	MBTPS2	Iris coloboma	HP:0000612
51360	MBTPS2	Photophobia	HP:0000613
51360	MBTPS2	Abnormal nasolacrimal system morphology	HP:0000614
51360	MBTPS2	Perifollicular fibrosis	HP:0030054
51360	MBTPS2	Skin ulcer	HP:0200042
51360	MBTPS2	Corneal dystrophy	HP:0001131
51360	MBTPS2	Hearing impairment	HP:0000365
51360	MBTPS2	Renal dysplasia	HP:0000110
51360	MBTPS2	Intellectual disability, severe	HP:0010864
51360	MBTPS2	Low-set ears	HP:0000369
51360	MBTPS2	Nail dysplasia	HP:0002164
51360	MBTPS2	Hemivertebrae	HP:0002937
51360	MBTPS2	Unilateral renal agenesis	HP:0000122
51360	MBTPS2	Subcortical cerebral atrophy	HP:0012157
51360	MBTPS2	Hydronephrosis	HP:0000126
51360	MBTPS2	Nystagmus	HP:0000639
51360	MBTPS2	Ichthyosis	HP:0008064
51360	MBTPS2	Oligodactyly	HP:0012165
51360	MBTPS2	Neoplasm of the skin	HP:0008069
51360	MBTPS2	Unilateral chest hypoplasia	HP:0005254
51360	MBTPS2	X-linked inheritance	HP:0001417
51360	MBTPS2	Postaxial hand polydactyly	HP:0001162
51360	MBTPS2	Camptodactyly of finger	HP:0100490
51360	MBTPS2	X-linked recessive inheritance	HP:0001419
51360	MBTPS2	Abnormal vertebral morphology	HP:0003468
51360	MBTPS2	Sparse eyelashes	HP:0000653
51360	MBTPS2	Macrotia	HP:0000400
51360	MBTPS2	Ectropion	HP:0000656
51360	MBTPS2	Heterogeneous	HP:0001425
51360	MBTPS2	Sensorineural hearing impairment	HP:0000407
51360	MBTPS2	Keratosis pilaris	HP:0032152
51360	MBTPS2	Protruding ear	HP:0000411
51360	MBTPS2	Brain atrophy	HP:0012444
51360	MBTPS2	Hypodontia	HP:0000668
51360	MBTPS2	Recurrent respiratory infections	HP:0002205
51360	MBTPS2	Abnormality of the tongue	HP:0000157
51360	MBTPS2	Platyspondyly	HP:0000926
51360	MBTPS2	Recurrent bacterial infections	HP:0002718
51360	MBTPS2	Carious teeth	HP:0000670
51360	MBTPS2	Ectrodactyly	HP:0100257
51360	MBTPS2	Immunodeficiency	HP:0002721
51360	MBTPS2	Abnormality of the gingiva	HP:0000168
51360	MBTPS2	Osteopenia	HP:0000938
51360	MBTPS2	Abnormality of dental enamel	HP:0000682
51360	MBTPS2	Cleft palate	HP:0000175
51360	MBTPS2	Absent eyebrow	HP:0002223
51360	MBTPS2	Neoplasm of the lung	HP:0100526
51360	MBTPS2	Scleritis	HP:0100532
51360	MBTPS2	Severe short stature	HP:0003510
51360	MBTPS2	Episcleritis	HP:0100534
51360	MBTPS2	Convex nasal ridge	HP:0000444
51360	MBTPS2	Delayed skeletal maturation	HP:0002750
51360	MBTPS2	Dry skin	HP:0000958
51360	MBTPS2	Feeding difficulties	HP:0011968
51360	MBTPS2	Hyperkeratosis	HP:0000962
51360	MBTPS2	Eczema	HP:0000964
51360	MBTPS2	Recurrent fractures	HP:0002757
51360	MBTPS2	Choanal atresia	HP:0000453
51360	MBTPS2	Hypohidrosis	HP:0000966
51360	MBTPS2	Thin fingernail	HP:0012742
51360	MBTPS2	Dystrophic fingernails	HP:0008391
51360	MBTPS2	Ectodermal dysplasia	HP:0000968
51360	MBTPS2	Subungual hyperkeratosis	HP:0008392
51360	MBTPS2	Scarring alopecia of scalp	HP:0004552
51360	MBTPS2	Rhizomelia	HP:0008905
51360	MBTPS2	Anhidrosis	HP:0000970
51360	MBTPS2	Aganglionic megacolon	HP:0002251
51360	MBTPS2	Palmoplantar hyperkeratosis	HP:0000972
51360	MBTPS2	Abnormal fingernail morphology	HP:0001231
51360	MBTPS2	Nail dystrophy	HP:0008404
51360	MBTPS2	Cerebral cortical hemiatrophy	HP:0100308
51360	MBTPS2	Dementia	HP:0000726
51360	MBTPS2	Palmoplantar keratoderma	HP:0000982
51360	MBTPS2	Frontal bossing	HP:0002007
51360	MBTPS2	Cheilitis	HP:0100825
51360	MBTPS2	Hypoplasia of the bladder	HP:0005343
51360	MBTPS2	Intellectual disability	HP:0001249
51360	MBTPS2	Seizures	HP:0001250
51360	MBTPS2	Short stature	HP:0004322
51360	MBTPS2	Neonatal death	HP:0003811
51360	MBTPS2	Astigmatism	HP:0000483
51360	MBTPS2	Abnormal pelvis bone morphology	HP:0040163
51360	MBTPS2	Muscular hypotonia	HP:0001252
51360	MBTPS2	Failure to thrive	HP:0001508
51360	MBTPS2	Vertebral wedging	HP:0008422
51360	MBTPS2	Intrauterine growth retardation	HP:0001511
51360	MBTPS2	Biconcave vertebral bodies	HP:0004586
51360	MBTPS2	Keratitis	HP:0000491
51360	MBTPS2	Osteolysis	HP:0002797
51360	MBTPS2	Hydrocephalus	HP:0000238
51360	MBTPS2	Hypotrichosis	HP:0001006
51360	MBTPS2	Olivopontocerebellar atrophy	HP:0002542
51360	MBTPS2	Global developmental delay	HP:0001263
51360	MBTPS2	Recurrent corneal erosions	HP:0000495
51360	MBTPS2	Blepharitis	HP:0000498
51360	MBTPS2	Palmoplantar hyperhidrosis	HP:0007410
51360	MBTPS2	Abnormal eyelash morphology	HP:0000499
51360	MBTPS2	Variable expressivity	HP:0003828
51360	MBTPS2	Kyphosis	HP:0002808
51360	MBTPS2	Congenital onset	HP:0003577
51360	MBTPS2	Agenesis of corpus callosum	HP:0001274
51360	MBTPS2	Alopecia totalis	HP:0007418
51360	MBTPS2	Erythroderma	HP:0001019
51360	MBTPS2	Microcephaly	HP:0000252
51360	MBTPS2	Folliculitis	HP:0025084
51360	MBTPS2	Conjunctivitis	HP:0000509
51360	MBTPS2	Scaling skin	HP:0040189
51360	MBTPS2	Heat intolerance	HP:0002046
51360	MBTPS2	Pectus excavatum	HP:0000767
84131	CEP78	Macular degeneration	HP:0000608
84131	CEP78	Abnormal electroretinogram	HP:0000512
84131	CEP78	Hallucinations	HP:0000738
84131	CEP78	Astigmatism	HP:0000483
84131	CEP78	Ataxia	HP:0001251
84131	CEP78	Anxiety	HP:0000739
84131	CEP78	Photophobia	HP:0000613
84131	CEP78	Cataract	HP:0000518
84131	CEP78	Autosomal recessive inheritance	HP:0000007
84131	CEP78	Depressivity	HP:0000716
84131	CEP78	Schizophrenia	HP:0100753
84131	CEP78	Retinal atrophy	HP:0001105
84131	CEP78	Iris hypopigmentation	HP:0007730
84131	CEP78	High hypermetropia	HP:0008499
84131	CEP78	Nyctalopia	HP:0000662
84131	CEP78	Sensorineural hearing impairment	HP:0000407
84131	CEP78	Abnormal cochlea morphology	HP:0000375
84131	CEP78	Hemianopia	HP:0012377
84131	CEP78	Vestibular hypofunction	HP:0001756
84131	CEP78	Visual loss	HP:0000572
84131	CEP78	Nystagmus	HP:0000639
84131	CEP78	Scotoma	HP:0000575
51364	ZMYND10	Rhinitis	HP:0012384
51364	ZMYND10	Situs inversus totalis	HP:0001696
51364	ZMYND10	Absent inner and outer dynein arms	HP:0012259
51364	ZMYND10	Recurrent sinusitis	HP:0011108
51364	ZMYND10	Autosomal recessive inheritance	HP:0000007
51364	ZMYND10	Nasal polyposis	HP:0100582
51364	ZMYND10	Ciliary dyskinesia	HP:0012265
51364	ZMYND10	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
51364	ZMYND10	Reduced sperm motility	HP:0012207
51364	ZMYND10	Recurrent otitis media	HP:0000403
51364	ZMYND10	Infertility	HP:0000789
51364	ZMYND10	Chronic bronchitis	HP:0004469
51364	ZMYND10	Recurrent respiratory infections	HP:0002205
51364	ZMYND10	Bronchiectasis	HP:0002110
2214	FCGR3A	Immunodeficiency	HP:0002721
2214	FCGR3A	Recurrent otitis media	HP:0000403
2214	FCGR3A	Recurrent sinusitis	HP:0011108
2214	FCGR3A	Autosomal recessive inheritance	HP:0000007
2218	FKTN	Macrocephaly	HP:0000256
2218	FKTN	Fatty replacement of skeletal muscle	HP:0012548
2218	FKTN	Areflexia	HP:0001284
2218	FKTN	Cataract	HP:0000518
2218	FKTN	Autosomal recessive inheritance	HP:0000007
2218	FKTN	Gait disturbance	HP:0001288
2218	FKTN	Infantile onset	HP:0003593
2218	FKTN	Generalized hypotonia	HP:0001290
2218	FKTN	Dolichocephaly	HP:0000268
2218	FKTN	Metatarsus valgus	HP:0010508
2218	FKTN	Anophthalmia	HP:0000528
2218	FKTN	Corneal opacity	HP:0007957
2218	FKTN	Calf muscle hypertrophy	HP:0008981
2218	FKTN	Hemiplegia/hemiparesis	HP:0004374
2218	FKTN	Pachygyria	HP:0001302
2218	FKTN	Dandy-Walker malformation	HP:0001305
2218	FKTN	Cryptorchidism	HP:0000028
2218	FKTN	Hypermetropia	HP:0000540
2218	FKTN	Retinal detachment	HP:0000541
2218	FKTN	Hypoplasia of the corpus callosum	HP:0002079
2218	FKTN	Hypoplasia of penis	HP:0008736
2218	FKTN	Myopia	HP:0000545
2218	FKTN	Encephalocele	HP:0002084
2218	FKTN	Retinal dysplasia	HP:0007973
2218	FKTN	Occipital encephalocele	HP:0002085
2218	FKTN	Neonatal hypotonia	HP:0001319
2218	FKTN	Cerebellar hypoplasia	HP:0001321
2218	FKTN	Mask-like facies	HP:0000298
2218	FKTN	Retinal dystrophy	HP:0000556
2218	FKTN	Muscle weakness	HP:0001324
2218	FKTN	Buphthalmos	HP:0000557
2218	FKTN	Respiratory insufficiency	HP:0002093
2218	FKTN	Cerebellar cyst	HP:0002350
2218	FKTN	Specific learning disability	HP:0001328
2218	FKTN	EEG abnormality	HP:0002353
2218	FKTN	Hypoplastic male external genitalia	HP:0000050
2218	FKTN	Difficulty walking	HP:0002355
2218	FKTN	Absent septum pellucidum	HP:0001331
2218	FKTN	Chorioretinal dysplasia	HP:0007731
2218	FKTN	Frequent falls	HP:0002359
2218	FKTN	Microphthalmia	HP:0000568
2218	FKTN	Abnormal glycosylation	HP:0012345
2218	FKTN	Macrogyria	HP:0007227
2218	FKTN	Hypoplasia of the brainstem	HP:0002365
2218	FKTN	Gowers sign	HP:0003391
2218	FKTN	Muscle spasm	HP:0003394
2218	FKTN	Facial diplegia	HP:0001349
2218	FKTN	Ventriculomegaly	HP:0002119
2218	FKTN	Abnormality of the voice	HP:0001608
2218	FKTN	Weak cry	HP:0001612
2218	FKTN	Plagiocephaly	HP:0001357
2218	FKTN	Coloboma	HP:0000589
2218	FKTN	Polymicrogyria	HP:0002126
2218	FKTN	Holoprosencephaly	HP:0001360
2218	FKTN	Retinal atrophy	HP:0001105
2218	FKTN	Abnormality of neutrophils	HP:0001874
2218	FKTN	Scoliosis	HP:0002650
2218	FKTN	Flexion contracture	HP:0001371
2218	FKTN	Type II lissencephaly	HP:0007260
2218	FKTN	Progressive	HP:0003676
2218	FKTN	Hypoglycosylation of alpha-dystroglycan	HP:0030046
2218	FKTN	Atrial septal defect	HP:0001631
2218	FKTN	Optic nerve hypoplasia	HP:0000609
2218	FKTN	Iris coloboma	HP:0000612
2218	FKTN	Posteriorly rotated ears	HP:0000358
2218	FKTN	Microtia	HP:0008551
2218	FKTN	Blindness	HP:0000618
2218	FKTN	Pulmonic stenosis	HP:0001642
2218	FKTN	Dilated cardiomyopathy	HP:0001644
2218	FKTN	Renal dysplasia	HP:0000110
2218	FKTN	Intellectual disability, severe	HP:0010864
2218	FKTN	Abnormal aldolase level	HP:0012400
2218	FKTN	Low-set ears	HP:0000369
2218	FKTN	Proximal muscle weakness	HP:0003701
2218	FKTN	Neurological speech impairment	HP:0002167
2218	FKTN	Cerebellar dysplasia	HP:0007033
2218	FKTN	Posterior fossa cyst	HP:0007291
2218	FKTN	Myopathy	HP:0003198
2218	FKTN	Skeletal muscle hypertrophy	HP:0003712
2218	FKTN	EMG abnormality	HP:0003457
2218	FKTN	EMG: myopathic abnormalities	HP:0003458
2218	FKTN	Skeletal muscle atrophy	HP:0003202
2218	FKTN	Meningocele	HP:0002435
2218	FKTN	Transposition of the great arteries	HP:0001669
2218	FKTN	Optic atrophy	HP:0000648
2218	FKTN	Agyria	HP:0031882
2218	FKTN	Camptodactyly of finger	HP:0100490
2218	FKTN	Intellectual disability, profound	HP:0002187
2218	FKTN	Excessive daytime sleepiness	HP:0002189
2218	FKTN	Heterogeneous	HP:0001425
2218	FKTN	Abnormal circulating creatine kinase concentration	HP:0040081
2218	FKTN	Toe walking	HP:0040083
2218	FKTN	Reduced muscle fiber alpha dystroglycan	HP:0030099
2218	FKTN	Peters anomaly	HP:0000659
2218	FKTN	Myocardial fibrosis	HP:0001685
2218	FKTN	Sensorineural hearing impairment	HP:0000407
2218	FKTN	Protruding ear	HP:0000411
2218	FKTN	Congenital muscular dystrophy	HP:0003741
2218	FKTN	Atresia of the external auditory canal	HP:0000413
2218	FKTN	Elevated serum creatine kinase	HP:0003236
2218	FKTN	Severe muscular hypotonia	HP:0006829
2218	FKTN	Cleft palate	HP:0000175
2218	FKTN	Submucous cleft hard palate	HP:0000176
2218	FKTN	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
2218	FKTN	Hypoplasia of the pyramidal tract	HP:0007348
2218	FKTN	Cognitive impairment	HP:0100543
2218	FKTN	Kyphoscoliosis	HP:0002751
2218	FKTN	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2218	FKTN	Bifid uvula	HP:0000193
2218	FKTN	Abnormality of the cerebral white matter	HP:0002500
2218	FKTN	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
2218	FKTN	Cleft upper lip	HP:0000204
2218	FKTN	Limb-girdle muscle atrophy	HP:0003797
2218	FKTN	Palmoplantar keratoderma	HP:0000982
2218	FKTN	Proximal amyotrophy	HP:0007126
2218	FKTN	Exaggerated startle response	HP:0002267
2218	FKTN	Intellectual disability	HP:0001249
2218	FKTN	Seizures	HP:0001250
2218	FKTN	Talipes equinovarus	HP:0001762
2218	FKTN	Microcornea	HP:0000482
2218	FKTN	Lipoatrophy	HP:0100578
2218	FKTN	Muscular hypotonia	HP:0001252
2218	FKTN	Megalocornea	HP:0000485
2218	FKTN	Strabismus	HP:0000486
2218	FKTN	Intrauterine growth retardation	HP:0001511
2218	FKTN	Anal atresia	HP:0002023
2218	FKTN	Muscular dystrophy	HP:0003560
2218	FKTN	Meningoencephalocele	HP:0006888
2218	FKTN	Gray matter heterotopia	HP:0002282
2218	FKTN	Spinal rigidity	HP:0003306
2218	FKTN	Hyperlordosis	HP:0003307
2218	FKTN	Achilles tendon contracture	HP:0001771
2218	FKTN	Hydrocephalus	HP:0000238
2218	FKTN	Delayed speech and language development	HP:0000750
2218	FKTN	Global developmental delay	HP:0001263
2218	FKTN	Abnormal lactate dehydrogenase activity	HP:0045040
2218	FKTN	Hyporeflexia	HP:0001265
2218	FKTN	Congenital contracture	HP:0002803
2218	FKTN	Variable expressivity	HP:0003828
2218	FKTN	Mildly elevated creatine kinase	HP:0008180
2218	FKTN	Glaucoma	HP:0000501
2218	FKTN	Motor delay	HP:0001270
2218	FKTN	Brachycephaly	HP:0000248
2218	FKTN	Cerebellar atrophy	HP:0001272
2218	FKTN	Visual impairment	HP:0000505
2218	FKTN	Agenesis of corpus callosum	HP:0001274
2218	FKTN	Hypertonia	HP:0001276
2218	FKTN	Generalized muscle weakness	HP:0003324
2218	FKTN	Microcephaly	HP:0000252
2218	FKTN	Myalgia	HP:0003326
2218	FKTN	Pectus excavatum	HP:0000767
51371	POMP	Ichthyosis	HP:0008064
51371	POMP	Linear arrays of macular hyperkeratoses in flexural areas	HP:0007490
51371	POMP	Hyperconvex nail	HP:0001795
51371	POMP	Brachydactyly	HP:0001156
51371	POMP	Clinodactyly	HP:0030084
51371	POMP	Failure to thrive	HP:0001508
51371	POMP	Autosomal recessive inheritance	HP:0000007
51371	POMP	Honeycomb palmoplantar keratoderma	HP:0007465
51371	POMP	Parakeratosis	HP:0001036
51371	POMP	Elevated erythrocyte sedimentation rate	HP:0003565
51371	POMP	Increased antibody level in blood	HP:0010702
51371	POMP	Amniotic constriction ring	HP:0009775
51371	POMP	Nail dystrophy	HP:0008404
51371	POMP	Palmoplantar keratoderma	HP:0000982
51371	POMP	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
51371	POMP	Periorbital edema	HP:0100539
51371	POMP	Lymphadenopathy	HP:0002716
51371	POMP	Skin rash	HP:0000988
84140	FAM161A	Abnormal electroretinogram	HP:0000512
84140	FAM161A	Hyperreflexia	HP:0001347
84140	FAM161A	Cataract	HP:0000518
84140	FAM161A	Hypogonadism	HP:0000135
84140	FAM161A	Autosomal recessive inheritance	HP:0000007
84140	FAM161A	Optic atrophy	HP:0000648
84140	FAM161A	Hyperinsulinemia	HP:0000842
84140	FAM161A	Anteverted nares	HP:0000463
84140	FAM161A	Conductive hearing impairment	HP:0000405
84140	FAM161A	Nyctalopia	HP:0000662
84140	FAM161A	Sensorineural hearing impairment	HP:0000407
84140	FAM161A	Abnormality of retinal pigmentation	HP:0007703
84140	FAM161A	Ophthalmoplegia	HP:0000602
84140	FAM161A	Type II diabetes mellitus	HP:0005978
84140	FAM161A	Atypical scarring of skin	HP:0000987
84140	FAM161A	Optic disc pallor	HP:0000543
84140	FAM161A	Hypoplasia of penis	HP:0008736
84140	FAM161A	Intellectual disability	HP:0001249
84140	FAM161A	Abnormal testis morphology	HP:0000035
84140	FAM161A	Photophobia	HP:0000613
84140	FAM161A	Obesity	HP:0001513
84140	FAM161A	Blindness	HP:0000618
84140	FAM161A	Constriction of peripheral visual field	HP:0001133
84140	FAM161A	Abnormal retinal vascular morphology	HP:0008046
84140	FAM161A	Wide nasal bridge	HP:0000431
84140	FAM161A	Keratoconus	HP:0000563
84140	FAM161A	Glaucoma	HP:0000501
84140	FAM161A	Bone spicule pigmentation of the retina	HP:0007737
84140	FAM161A	Progressive night blindness	HP:0007675
84140	FAM161A	Rod-cone dystrophy	HP:0000510
84140	FAM161A	Nystagmus	HP:0000639
10413	YAP1	Intellectual disability	HP:0001249
10413	YAP1	Iris coloboma	HP:0000612
10413	YAP1	Strabismus	HP:0000486
10413	YAP1	Cataract	HP:0000518
10413	YAP1	Autosomal dominant inheritance	HP:0000006
10413	YAP1	Optic atrophy	HP:0000648
10413	YAP1	Cleft upper lip	HP:0000204
10413	YAP1	Coloboma	HP:0000589
10413	YAP1	Cleft palate	HP:0000175
10413	YAP1	Posterior embryotoxon	HP:0000627
10413	YAP1	Corneal opacity	HP:0007957
10413	YAP1	Glaucoma	HP:0000501
10413	YAP1	Hematuria	HP:0000790
10413	YAP1	Chorioretinal coloboma	HP:0000567
10413	YAP1	Sensorineural hearing impairment	HP:0000407
10413	YAP1	Bilateral cleft lip and palate	HP:0002744
10413	YAP1	Microphthalmia	HP:0000568
10413	YAP1	Visual impairment	HP:0000505
10413	YAP1	Ptosis	HP:0000508
10413	YAP1	Retinal detachment	HP:0000541
10413	YAP1	Nystagmus	HP:0000639
92335	STRADA	Macrocephaly	HP:0000256
92335	STRADA	Absent speech	HP:0001344
92335	STRADA	Feeding difficulties	HP:0011968
92335	STRADA	Open mouth	HP:0000194
92335	STRADA	Ventriculomegaly	HP:0002119
92335	STRADA	Autosomal recessive inheritance	HP:0000007
92335	STRADA	Generalized hypotonia	HP:0001290
92335	STRADA	Megalencephaly	HP:0001355
92335	STRADA	Astrocytosis	HP:0002446
92335	STRADA	Hyperplasia of midface	HP:0012371
92335	STRADA	Large forehead	HP:0002003
92335	STRADA	Long face	HP:0000276
92335	STRADA	Premature birth	HP:0001622
92335	STRADA	Thick upper lip vermilion	HP:0000215
92335	STRADA	Polyhydramnios	HP:0001561
92335	STRADA	Wide mouth	HP:0000154
92335	STRADA	Atrial septal defect	HP:0001631
92335	STRADA	Intellectual disability	HP:0001249
92335	STRADA	Seizures	HP:0001250
92335	STRADA	Muscular hypotonia	HP:0001252
92335	STRADA	Strabismus	HP:0000486
92335	STRADA	Facial hypotonia	HP:0000297
92335	STRADA	Diabetes insipidus	HP:0000873
92335	STRADA	Inability to walk	HP:0002540
92335	STRADA	Joint laxity	HP:0001388
92335	STRADA	Wide nasal bridge	HP:0000431
92335	STRADA	Global developmental delay	HP:0001263
92335	STRADA	Difficulty walking	HP:0002355
92335	STRADA	Thick lower lip vermilion	HP:0000179
92335	STRADA	Nephrocalcinosis	HP:0000121
92335	STRADA	Hypertelorism	HP:0000316
2224	FDPS	Cutaneous photosensitivity	HP:0000992
2224	FDPS	Squamous cell carcinoma	HP:0002860
2224	FDPS	Pruritus	HP:0000989
2224	FDPS	Porokeratosis	HP:0200044
84146	ZNF644	Autosomal dominant inheritance	HP:0000006
84146	ZNF644	High myopia	HP:0011003
84153	RNASEH2C	Myositis	HP:0100614
84153	RNASEH2C	Autosomal recessive inheritance	HP:0000007
84153	RNASEH2C	Spastic paraparesis	HP:0002313
84153	RNASEH2C	Generalized hypotonia	HP:0001290
84153	RNASEH2C	Intellectual disability, profound	HP:0002187
84153	RNASEH2C	Headache	HP:0002315
84153	RNASEH2C	Multifocal cerebral white matter abnormalities	HP:0007052
84153	RNASEH2C	Multiple joint contractures	HP:0002828
84153	RNASEH2C	Autoimmunity	HP:0002960
84153	RNASEH2C	Encephalopathy	HP:0001298
84153	RNASEH2C	Increased serum interferon-gamma level	HP:0030356
84153	RNASEH2C	Hemiplegia/hemiparesis	HP:0004374
84153	RNASEH2C	Hepatosplenomegaly	HP:0001433
84153	RNASEH2C	Brain atrophy	HP:0012444
84153	RNASEH2C	Hypoplasia of the corpus callosum	HP:0002079
84153	RNASEH2C	Raynaud phenomenon	HP:0030880
84153	RNASEH2C	Delayed myelination	HP:0012448
84153	RNASEH2C	Unexplained fevers	HP:0001955
84153	RNASEH2C	Extrapyramidal muscular rigidity	HP:0007076
84153	RNASEH2C	Acrocyanosis	HP:0001063
84153	RNASEH2C	Chronic lymphatic leukemia	HP:0005550
84153	RNASEH2C	Difficulty walking	HP:0002355
84153	RNASEH2C	Prolonged neonatal jaundice	HP:0006579
84153	RNASEH2C	Diabetes mellitus	HP:0000819
84153	RNASEH2C	Dystonia	HP:0001332
84153	RNASEH2C	Hypothyroidism	HP:0000821
84153	RNASEH2C	Micropenis	HP:0000054
84153	RNASEH2C	Tremor	HP:0001337
84153	RNASEH2C	Moyamoya phenomenon	HP:0011834
84153	RNASEH2C	Dry skin	HP:0000958
84153	RNASEH2C	Developmental glaucoma	HP:0001087
84153	RNASEH2C	Loss of speech	HP:0002371
84153	RNASEH2C	Hyperreflexia	HP:0001347
84153	RNASEH2C	Demyelinating peripheral neuropathy	HP:0007108
84153	RNASEH2C	Cutis marmorata	HP:0000965
84153	RNASEH2C	Ventriculomegaly	HP:0002119
84153	RNASEH2C	Developmental regression	HP:0002376
84153	RNASEH2C	Neonatal alloimmune thrombocytopenia	HP:0004809
84153	RNASEH2C	Hoarse voice	HP:0001609
84153	RNASEH2C	Panniculitis	HP:0012490
84153	RNASEH2C	Degeneration of the striatum	HP:0040140
84153	RNASEH2C	Plagiocephaly	HP:0001357
84153	RNASEH2C	Aortic aneurysm	HP:0004942
84153	RNASEH2C	Spastic tetraplegia	HP:0002510
84153	RNASEH2C	Severe global developmental delay	HP:0011344
84153	RNASEH2C	Thrombocytopenia	HP:0001873
84153	RNASEH2C	Cerebral calcification	HP:0002514
84153	RNASEH2C	Porencephalic cyst	HP:0002132
84153	RNASEH2C	Enchondroma	HP:0030038
84153	RNASEH2C	CSF lymphocytic pleiocytosis	HP:0200149
84153	RNASEH2C	Abnormal pyramidal sign	HP:0007256
84153	RNASEH2C	Arthritis	HP:0001369
84153	RNASEH2C	Scoliosis	HP:0002650
84153	RNASEH2C	Arrhinencephaly	HP:0002139
84153	RNASEH2C	Progressive	HP:0003676
84153	RNASEH2C	Elevated hepatic transaminase	HP:0002910
84153	RNASEH2C	Muscle stiffness	HP:0003552
84153	RNASEH2C	Irritability	HP:0000737
84153	RNASEH2C	Short stature	HP:0004322
84153	RNASEH2C	Seizures	HP:0001250
84153	RNASEH2C	Large beaked nose	HP:0003683
84153	RNASEH2C	Calcification of the aorta	HP:0004963
84153	RNASEH2C	Lipoatrophy	HP:0100578
84153	RNASEH2C	Hypertrophic cardiomyopathy	HP:0001639
84153	RNASEH2C	Chronic CSF lymphocytosis	HP:0009704
84153	RNASEH2C	Cardiomegaly	HP:0001640
84153	RNASEH2C	Muscular hypotonia of the trunk	HP:0008936
84153	RNASEH2C	Spasticity	HP:0001257
84153	RNASEH2C	Death in childhood	HP:0003819
84153	RNASEH2C	Increased CSF interferon alpha	HP:0009709
84153	RNASEH2C	Chilblains	HP:0009710
84153	RNASEH2C	Leukodystrophy	HP:0002415
84153	RNASEH2C	Global developmental delay	HP:0001263
84153	RNASEH2C	Low-set ears	HP:0000369
84153	RNASEH2C	Eyelid coloboma	HP:0000625
84153	RNASEH2C	Ptosis	HP:0000508
84153	RNASEH2C	Microcephaly	HP:0000252
84153	RNASEH2C	Progressive microcephaly	HP:0000253
84153	RNASEH2C	Nystagmus	HP:0000639
2232	FDXR	Pallor	HP:0000980
2232	FDXR	Optic atrophy	HP:0000648
2232	FDXR	Visual impairment	HP:0000505
2232	FDXR	Ophthalmoplegia	HP:0000602
2232	FDXR	Hearing impairment	HP:0000365
2232	FDXR	Rod-cone dystrophy	HP:0000510
2232	FDXR	Nystagmus	HP:0000639
92344	GORAB	Periodontitis	HP:0000704
92344	GORAB	Pectus carinatum	HP:0000768
92344	GORAB	Thin skin	HP:0000963
92344	GORAB	Recurrent fractures	HP:0002757
92344	GORAB	Hypoplasia of the maxilla	HP:0000327
92344	GORAB	Autosomal recessive inheritance	HP:0000007
92344	GORAB	Prematurely aged appearance	HP:0007495
92344	GORAB	Vertebral compression fractures	HP:0002953
92344	GORAB	Hip dislocation	HP:0002827
92344	GORAB	Cutis laxa	HP:0000973
92344	GORAB	Hyperextensible skin	HP:0000974
92344	GORAB	Malar flattening	HP:0000272
92344	GORAB	Progeroid facial appearance	HP:0005328
92344	GORAB	Wormian bones	HP:0002645
92344	GORAB	Beaking of vertebral bodies	HP:0004568
92344	GORAB	Scoliosis	HP:0002650
92344	GORAB	Talipes	HP:0001883
92344	GORAB	Platyspondyly	HP:0000926
92344	GORAB	Camptodactyly	HP:0012385
92344	GORAB	Intellectual disability	HP:0001249
92344	GORAB	Microcornea	HP:0000482
92344	GORAB	Hyperextensibility of the finger joints	HP:0001187
92344	GORAB	Pes planus	HP:0001763
92344	GORAB	Femoral bowing	HP:0002980
92344	GORAB	Muscular hypotonia	HP:0001252
92344	GORAB	Irregular vertebral endplates	HP:0003301
92344	GORAB	Tibial bowing	HP:0002982
92344	GORAB	Intellectual disability, mild	HP:0001256
92344	GORAB	Deeply set eye	HP:0000490
92344	GORAB	Osteopenia	HP:0000938
92344	GORAB	Biconcave vertebral bodies	HP:0004586
92344	GORAB	Abnormality of epiphysis morphology	HP:0005930
92344	GORAB	Osteoporosis	HP:0000939
92344	GORAB	Delayed speech and language development	HP:0000750
92344	GORAB	Redundant skin	HP:0001582
92344	GORAB	Mandibular prognathia	HP:0000303
92344	GORAB	Global developmental delay	HP:0001263
92344	GORAB	Severe short stature	HP:0003510
92344	GORAB	Hernia	HP:0100790
92344	GORAB	Abnormality of vision	HP:0000504
92344	GORAB	Microcephaly	HP:0000252
92344	GORAB	Joint hyperflexibility	HP:0005692
92344	GORAB	Kyphoscoliosis	HP:0002751
2235	FECH	Cutaneous photosensitivity	HP:0000992
2235	FECH	Decreased liver function	HP:0001410
2235	FECH	Eczema	HP:0000964
2235	FECH	Autosomal dominant inheritance	HP:0000006
2235	FECH	Autosomal recessive inheritance	HP:0000007
2235	FECH	Childhood onset	HP:0011463
2235	FECH	Abnormal circulating porphyrin concentration	HP:0010472
2235	FECH	Edema	HP:0000969
2235	FECH	Hypertriglyceridemia	HP:0002155
2235	FECH	Microcytic anemia	HP:0001935
2235	FECH	Cirrhosis	HP:0001394
2235	FECH	Hemolytic anemia	HP:0001878
2235	FECH	Hepatic failure	HP:0001399
2235	FECH	Cholelithiasis	HP:0001081
2235	FECH	Pruritus	HP:0000989
2235	FECH	Erythema	HP:0010783
493753	COA5	Hypertrophic cardiomyopathy	HP:0001639
493753	COA5	Autosomal recessive inheritance	HP:0000007
493753	COA5	Congenital onset	HP:0003577
2239	GPC4	Macrocephaly	HP:0000256
2239	GPC4	Small nail	HP:0001792
2239	GPC4	Umbilical hernia	HP:0001537
2239	GPC4	Multicystic kidney dysplasia	HP:0000003
2239	GPC4	Omphalocele	HP:0001539
2239	GPC4	Abnormality of the ribs	HP:0000772
2239	GPC4	Diastasis recti	HP:0001540
2239	GPC4	Autosomal dominant inheritance	HP:0000006
2239	GPC4	Intestinal malrotation	HP:0002566
2239	GPC4	Congenital diaphragmatic hernia	HP:0000776
2239	GPC4	Generalized hypotonia	HP:0001290
2239	GPC4	Inguinal hernia	HP:0000023
2239	GPC4	Coarse facial features	HP:0000280
2239	GPC4	Dandy-Walker malformation	HP:0001305
2239	GPC4	Polyhydramnios	HP:0001561
2239	GPC4	Cryptorchidism	HP:0000028
2239	GPC4	Epicanthus	HP:0000286
2239	GPC4	Abnormality of the helix	HP:0011039
2239	GPC4	Hypoplasia of penis	HP:0008736
2239	GPC4	Two carpal ossification centers present at birth	HP:0006176
2239	GPC4	Short toe	HP:0001831
2239	GPC4	Broad thumb	HP:0011304
2239	GPC4	Cerebellar vermis hypoplasia	HP:0001320
2239	GPC4	Broad toe	HP:0001837
2239	GPC4	Hypospadias	HP:0000047
2239	GPC4	Mandibular prognathia	HP:0000303
2239	GPC4	Flared iliac wings	HP:0002869
2239	GPC4	Abnormal lung lobation	HP:0002101
2239	GPC4	Hypertelorism	HP:0000316
2239	GPC4	Short 2nd finger	HP:0009536
2239	GPC4	Hepatoblastoma	HP:0002884
2239	GPC4	Hydroureter	HP:0000072
2239	GPC4	Hoarse voice	HP:0001609
2239	GPC4	Ureteral duplication	HP:0000073
2239	GPC4	Posterior helix pit	HP:0008523
2239	GPC4	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
2239	GPC4	Scoliosis	HP:0002650
2239	GPC4	Ventricular septal defect	HP:0001629
2239	GPC4	Congenital hip dislocation	HP:0001374
2239	GPC4	Vertebral segmentation defect	HP:0003422
2239	GPC4	Atrial septal defect	HP:0001631
2239	GPC4	Tall stature	HP:0000098
2239	GPC4	Narrow sacroiliac notch	HP:0008803
2239	GPC4	Cardiomyopathy	HP:0001638
2239	GPC4	Enlarged kidney	HP:0000105
2239	GPC4	Pulmonic stenosis	HP:0001642
2239	GPC4	Nephroblastoma	HP:0002667
2239	GPC4	Patent ductus arteriosus	HP:0001643
2239	GPC4	Renal cyst	HP:0000107
2239	GPC4	Hearing impairment	HP:0000365
2239	GPC4	Low-set, posteriorly rotated ears	HP:0000368
2239	GPC4	Clinodactyly of the 5th finger	HP:0004209
2239	GPC4	Short sacroiliac notch	HP:0003185
2239	GPC4	Preauricular pit	HP:0004467
2239	GPC4	Nail dysplasia	HP:0002164
2239	GPC4	Neurological speech impairment	HP:0002167
2239	GPC4	Prolonged QT interval	HP:0001657
2239	GPC4	Cervical ribs	HP:0000891
2239	GPC4	Short nose	HP:0003196
2239	GPC4	Hydronephrosis	HP:0000126
2239	GPC4	Preauricular skin tag	HP:0000384
2239	GPC4	Vertebral fusion	HP:0002948
2239	GPC4	Transposition of the great arteries	HP:0001669
2239	GPC4	Postaxial hand polydactyly	HP:0001162
2239	GPC4	Camptodactyly of finger	HP:0100490
2239	GPC4	X-linked recessive inheritance	HP:0001419
2239	GPC4	Increased circulating total IgE level	HP:0003212
2239	GPC4	Submucous cleft lip	HP:0009101
2239	GPC4	High, narrow palate	HP:0002705
2239	GPC4	Heterogeneous	HP:0001425
2239	GPC4	Broad palm	HP:0001169
2239	GPC4	Somatic mutation	HP:0001428
2239	GPC4	Hypoglycemia	HP:0001943
2239	GPC4	Wide mouth	HP:0000154
2239	GPC4	Short distal phalanx of finger	HP:0009882
2239	GPC4	Arrhythmia	HP:0011675
2239	GPC4	Pancreatic islet-cell hyperplasia	HP:0004510
2239	GPC4	Macroglossia	HP:0000158
2239	GPC4	Depressed nasal bridge	HP:0005280
2239	GPC4	Postaxial polydactyly	HP:0100259
2239	GPC4	Wide nasal bridge	HP:0000431
2239	GPC4	Cleft palate	HP:0000175
2239	GPC4	Dental malocclusion	HP:0000689
2239	GPC4	Short palm	HP:0004279
2239	GPC4	Birth length greater than 97th percentile	HP:0003517
2239	GPC4	Bundle branch block	HP:0011710
2239	GPC4	Neuroblastoma	HP:0003006
2239	GPC4	Hepatomegaly	HP:0002240
2239	GPC4	Meckel diverticulum	HP:0002245
2239	GPC4	Cleft upper lip	HP:0000204
2239	GPC4	Duplication of renal pelvis	HP:0005580
2239	GPC4	Anteverted nares	HP:0000463
2239	GPC4	Splenomegaly	HP:0001744
2239	GPC4	Webbed neck	HP:0000465
2239	GPC4	2-3 finger syndactyly	HP:0001233
2239	GPC4	Polysplenia	HP:0001748
2239	GPC4	Finger syndactyly	HP:0006101
2239	GPC4	Short neck	HP:0000470
2239	GPC4	Broad secondary alveolar ridge	HP:0000216
2239	GPC4	Six lumbar vertebrae	HP:0008416
2239	GPC4	Intellectual disability	HP:0001249
2239	GPC4	Talipes equinovarus	HP:0001762
2239	GPC4	Seizures	HP:0001250
2239	GPC4	Muscular hypotonia	HP:0001252
2239	GPC4	Broad foot	HP:0001769
2239	GPC4	Toe syndactyly	HP:0001770
2239	GPC4	Short foot	HP:0001773
2239	GPC4	Downslanted palpebral fissures	HP:0000494
2239	GPC4	Hydrocephalus	HP:0000238
2239	GPC4	Global developmental delay	HP:0001263
2239	GPC4	Accelerated skeletal maturation	HP:0005616
2239	GPC4	Death in infancy	HP:0001522
2239	GPC4	Agenesis of corpus callosum	HP:0001274
2239	GPC4	Supernumerary nipple	HP:0002558
2239	GPC4	Pectus excavatum	HP:0000767
2243	FGA	Hepatomegaly	HP:0002240
2243	FGA	Gingival bleeding	HP:0000225
2243	FGA	Abnormal bleeding	HP:0001892
2243	FGA	Nephrotic syndrome	HP:0000100
2243	FGA	Epistaxis	HP:0000421
2243	FGA	Autosomal dominant inheritance	HP:0000006
2243	FGA	Autosomal recessive inheritance	HP:0000007
2243	FGA	Venous thrombosis	HP:0004936
2243	FGA	Edema	HP:0000969
2243	FGA	Joint swelling	HP:0001386
2243	FGA	Menometrorrhagia	HP:0400008
2243	FGA	Nephropathy	HP:0000112
2243	FGA	Generalized amyloid deposition	HP:0003216
2243	FGA	Splenomegaly	HP:0001744
2243	FGA	Spontaneous abortion	HP:0005268
2243	FGA	Cholestasis	HP:0001396
2243	FGA	Hypertension	HP:0000822
2243	FGA	Hematuria	HP:0000790
2243	FGA	Hypofibrinogenemia	HP:0011900
2243	FGA	Skin rash	HP:0000988
2243	FGA	Proteinuria	HP:0000093
2243	FGA	Cerebral hemorrhage	HP:0001342
2243	FGA	Splenic rupture	HP:0012223
2243	FGA	Gastrointestinal hemorrhage	HP:0002239
84162	KIAA1109	Absent speech	HP:0001344
84162	KIAA1109	Clinodactyly	HP:0030084
84162	KIAA1109	Upslanted palpebral fissure	HP:0000582
84162	KIAA1109	Cataract	HP:0000518
84162	KIAA1109	Ventriculomegaly	HP:0002119
84162	KIAA1109	Edema	HP:0000969
84162	KIAA1109	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
84162	KIAA1109	Generalized hypotonia	HP:0001290
84162	KIAA1109	Anteverted nares	HP:0000463
84162	KIAA1109	Oculomotor apraxia	HP:0000657
84162	KIAA1109	Webbed neck	HP:0000465
84162	KIAA1109	Hypotelorism	HP:0000601
84162	KIAA1109	Hypermetropia	HP:0000540
84162	KIAA1109	Cystic hygroma	HP:0000476
84162	KIAA1109	Adducted thumb	HP:0001181
84162	KIAA1109	Depressed nasal bridge	HP:0005280
84162	KIAA1109	Intellectual disability	HP:0001249
84162	KIAA1109	Camptodactyly	HP:0012385
84162	KIAA1109	Seizures	HP:0001250
84162	KIAA1109	Pericardial effusion	HP:0001698
84162	KIAA1109	Talipes equinovarus	HP:0001762
84162	KIAA1109	Hand clenching	HP:0001188
84162	KIAA1109	Posteriorly rotated ears	HP:0000358
84162	KIAA1109	Strabismus	HP:0000486
84162	KIAA1109	Cerebellar hypoplasia	HP:0001321
84162	KIAA1109	Gray matter heterotopia	HP:0002282
84162	KIAA1109	Scrotal hypoplasia	HP:0000046
84162	KIAA1109	Hydrocephalus	HP:0000238
84162	KIAA1109	Global developmental delay	HP:0001263
84162	KIAA1109	Low-set ears	HP:0000369
84162	KIAA1109	Overlapping toe	HP:0001845
84162	KIAA1109	Cutaneous syndactyly	HP:0012725
84162	KIAA1109	Micropenis	HP:0000054
84162	KIAA1109	Congenital onset	HP:0003577
84162	KIAA1109	Cerebellar dysplasia	HP:0007033
84162	KIAA1109	Kinked brainstem	HP:0012793
84162	KIAA1109	Lissencephaly	HP:0001339
84162	KIAA1109	Short nose	HP:0003196
84162	KIAA1109	Hypertelorism	HP:0000316
84162	KIAA1109	Hypoplasia of the brainstem	HP:0002365
84162	KIAA1109	Overlapping fingers	HP:0010557
2244	FGB	Gingival bleeding	HP:0000225
2244	FGB	Abnormal bleeding	HP:0001892
2244	FGB	Spontaneous abortion	HP:0005268
2244	FGB	Epistaxis	HP:0000421
2244	FGB	Autosomal recessive inheritance	HP:0000007
2244	FGB	Venous thrombosis	HP:0004936
2244	FGB	Joint swelling	HP:0001386
2244	FGB	Hypofibrinogenemia	HP:0011900
2244	FGB	Cerebral hemorrhage	HP:0001342
2244	FGB	Menometrorrhagia	HP:0400008
2244	FGB	Splenic rupture	HP:0012223
2244	FGB	Gastrointestinal hemorrhage	HP:0002239
10436	EMG1	Prominent nose	HP:0000448
10436	EMG1	Seizures	HP:0001250
10436	EMG1	Short stature	HP:0004322
10436	EMG1	Ventriculomegaly	HP:0002119
10436	EMG1	Autosomal recessive inheritance	HP:0000007
10436	EMG1	Feeding difficulties in infancy	HP:0008872
10436	EMG1	Oral cleft	HP:0000202
10436	EMG1	Joint stiffness	HP:0001387
10436	EMG1	Camptodactyly of finger	HP:0100490
10436	EMG1	Severe intrauterine growth retardation	HP:0008846
10436	EMG1	Rocker bottom foot	HP:0001838
10436	EMG1	Small for gestational age	HP:0001518
10436	EMG1	Severe global developmental delay	HP:0011344
10436	EMG1	Clinodactyly of the 5th finger	HP:0004209
10436	EMG1	Death in infancy	HP:0001522
10436	EMG1	Severe postnatal growth retardation	HP:0008850
10436	EMG1	Sloping forehead	HP:0000340
10436	EMG1	Abnormal lung lobation	HP:0002101
10436	EMG1	Abnormal joint morphology	HP:0001367
10436	EMG1	Abnormality of cardiovascular system morphology	HP:0030680
10436	EMG1	Micrognathia	HP:0000347
10436	EMG1	Microcephaly	HP:0000252
10436	EMG1	Cryptorchidism	HP:0000028
2245	FGD1	Genu recurvatum	HP:0002816
2245	FGD1	Umbilical hernia	HP:0001537
2245	FGD1	Brachydactyly	HP:0001156
2245	FGD1	Clinodactyly	HP:0030084
2245	FGD1	Curved linear dimple below the lower lip	HP:0002055
2245	FGD1	Syndactyly	HP:0001159
2245	FGD1	Prominent umbilicus	HP:0001544
2245	FGD1	Abnormal vertebral segmentation and fusion	HP:0005640
2245	FGD1	X-linked recessive inheritance	HP:0001419
2245	FGD1	Camptodactyly of finger	HP:0100490
2245	FGD1	Broad palm	HP:0001169
2245	FGD1	Large earlobe	HP:0009748
2245	FGD1	Lozenge-shaped umbilicus	HP:0032277
2245	FGD1	Short 5th finger	HP:0009237
2245	FGD1	Inguinal hernia	HP:0000023
2245	FGD1	Cryptorchidism	HP:0000028
2245	FGD1	Hypermetropia	HP:0000540
2245	FGD1	Hypodontia	HP:0000668
2245	FGD1	Epicanthus	HP:0000286
2245	FGD1	Broad philtrum	HP:0000289
2245	FGD1	High anterior hairline	HP:0009890
2245	FGD1	Hyperextensibility of the finger joints	HP:0001187
2245	FGD1	Delayed eruption of teeth	HP:0000684
2245	FGD1	Mild short stature	HP:0003502
2245	FGD1	Cleft palate	HP:0000175
2245	FGD1	Wide nasal bridge	HP:0000431
2245	FGD1	Shawl scrotum	HP:0000049
2245	FGD1	Round face	HP:0000311
2245	FGD1	Delayed puberty	HP:0000823
2245	FGD1	Short palm	HP:0004279
2245	FGD1	Single transverse palmar crease	HP:0000954
2245	FGD1	Hypertelorism	HP:0000316
2245	FGD1	Joint hyperflexibility	HP:0005692
2245	FGD1	Cognitive impairment	HP:0100543
2245	FGD1	Hypoplasia of the maxilla	HP:0000327
2245	FGD1	Cleft upper lip	HP:0000204
2245	FGD1	Hyperextensible skin	HP:0000974
2245	FGD1	Anteverted nares	HP:0000463
2245	FGD1	Broad forehead	HP:0000337
2245	FGD1	Finger syndactyly	HP:0006101
2245	FGD1	Short neck	HP:0000470
2245	FGD1	Long philtrum	HP:0000343
2245	FGD1	Abnormality of cardiovascular system morphology	HP:0030680
2245	FGD1	Scoliosis	HP:0002650
2245	FGD1	Talipes	HP:0001883
2245	FGD1	Widow's peak	HP:0000349
2245	FGD1	Short stature	HP:0004322
2245	FGD1	Congestive heart failure	HP:0001635
2245	FGD1	Pes planus	HP:0001763
2245	FGD1	Failure to thrive	HP:0001508
2245	FGD1	Megalocornea	HP:0000485
2245	FGD1	Strabismus	HP:0000486
2245	FGD1	Increased upper to lower segment ratio	HP:0012774
2245	FGD1	Intellectual disability, mild	HP:0001256
2245	FGD1	Everted lower lip vermilion	HP:0000232
2245	FGD1	Broad foot	HP:0001769
2245	FGD1	Attention deficit hyperactivity disorder	HP:0007018
2245	FGD1	Short foot	HP:0001773
2245	FGD1	Downslanted palpebral fissures	HP:0000494
2245	FGD1	Global developmental delay	HP:0001263
2245	FGD1	Hypoplasia of the odontoid process	HP:0003311
2245	FGD1	Low-set, posteriorly rotated ears	HP:0000368
2245	FGD1	Clinodactyly of the 5th finger	HP:0004209
2245	FGD1	Small hand	HP:0200055
2245	FGD1	Cervical spine hypermobility	HP:0003318
2245	FGD1	Radial deviation of finger	HP:0009466
2245	FGD1	Short nose	HP:0003196
2245	FGD1	Ptosis	HP:0000508
2245	FGD1	External ear malformation	HP:0008572
2245	FGD1	Pectus excavatum	HP:0000767
2248	FGF3	Microtia, first degree	HP:0011266
2248	FGF3	Cataract	HP:0000518
2248	FGF3	Autosomal recessive inheritance	HP:0000007
2248	FGF3	Abnormal cranial nerve morphology	HP:0001291
2248	FGF3	Anteverted ears	HP:0040080
2248	FGF3	Delayed gross motor development	HP:0002194
2248	FGF3	Long face	HP:0000276
2248	FGF3	Sensorineural hearing impairment	HP:0000407
2248	FGF3	Progressive sensorineural hearing impairment	HP:0000408
2248	FGF3	Synophrys	HP:0000664
2248	FGF3	Hypodontia	HP:0000668
2248	FGF3	Carious teeth	HP:0000670
2248	FGF3	Full cheeks	HP:0000293
2248	FGF3	Taurodontia	HP:0000679
2248	FGF3	Abnormality of dental enamel	HP:0000682
2248	FGF3	Agenesis of premolar	HP:0011051
2248	FGF3	Delayed eruption of teeth	HP:0000684
2248	FGF3	Underdeveloped nasal alae	HP:0000430
2248	FGF3	Widely spaced teeth	HP:0000687
2248	FGF3	Wide nasal bridge	HP:0000431
2248	FGF3	High hypermetropia	HP:0008499
2248	FGF3	Pointed chin	HP:0000307
2248	FGF3	Microdontia	HP:0000691
2248	FGF3	Microphthalmia	HP:0000568
2248	FGF3	Conical tooth	HP:0000698
2248	FGF3	Pulp stones	HP:0003771
2248	FGF3	Odontoma	HP:0011068
2248	FGF3	Hypertelorism	HP:0000316
2248	FGF3	Increased number of teeth	HP:0011069
2248	FGF3	Periodontitis	HP:0000704
2248	FGF3	Prominent nose	HP:0000448
2248	FGF3	Abnormality of canine	HP:0011078
2248	FGF3	Abnormality of the maxilla	HP:0000326
2248	FGF3	Anteverted nares	HP:0000463
2248	FGF3	Gingival overgrowth	HP:0000212
2248	FGF3	Profound sensorineural hearing impairment	HP:0011476
2248	FGF3	Long philtrum	HP:0000343
2248	FGF3	Micrognathia	HP:0000347
2248	FGF3	High-frequency sensorineural hearing impairment	HP:0001757
2248	FGF3	Retinal coloboma	HP:0000480
2248	FGF3	Microcornea	HP:0000482
2248	FGF3	Tall stature	HP:0000098
2248	FGF3	Iris coloboma	HP:0000612
2248	FGF3	Strabismus	HP:0000486
2248	FGF3	Microtia	HP:0008551
2248	FGF3	Aplasia of the inner ear	HP:0011372
2248	FGF3	Lens coloboma	HP:0100719
2248	FGF3	Downslanted palpebral fissures	HP:0000494
2248	FGF3	Skin tags	HP:0010609
2248	FGF3	Otitis media with effusion	HP:0031353
84168	ANTXR1	Umbilical hernia	HP:0001537
84168	ANTXR1	Hemangioma	HP:0001028
84168	ANTXR1	Wide anterior fontanel	HP:0000260
84168	ANTXR1	Hypogonadism	HP:0000135
84168	ANTXR1	Autosomal recessive inheritance	HP:0000007
84168	ANTXR1	Optic atrophy	HP:0000648
84168	ANTXR1	Amenorrhea	HP:0000141
84168	ANTXR1	Sparse eyelashes	HP:0000653
84168	ANTXR1	Delayed cranial suture closure	HP:0000270
84168	ANTXR1	High, narrow palate	HP:0002705
84168	ANTXR1	Nephrolithiasis	HP:0000787
84168	ANTXR1	Asymmetry of the thorax	HP:0001555
84168	ANTXR1	Prominent scalp veins	HP:0001043
84168	ANTXR1	Abnormality of metabolism/homeostasis	HP:0001939
84168	ANTXR1	Sparse eyebrow	HP:0045075
84168	ANTXR1	Sparse and thin eyebrow	HP:0000535
84168	ANTXR1	Midface retrusion	HP:0011800
84168	ANTXR1	Protruding ear	HP:0000411
84168	ANTXR1	Hypopigmented skin patches	HP:0001053
84168	ANTXR1	Oligospermia	HP:0000798
84168	ANTXR1	Depressed nasal bridge	HP:0005280
84168	ANTXR1	Myopia	HP:0000545
84168	ANTXR1	Underdeveloped supraorbital ridges	HP:0009891
84168	ANTXR1	Abnormality of the dentition	HP:0000164
84168	ANTXR1	Delayed eruption of teeth	HP:0000684
84168	ANTXR1	Abnormal palate morphology	HP:0000174
84168	ANTXR1	Redundant skin	HP:0001582
84168	ANTXR1	Mandibular prognathia	HP:0000303
84168	ANTXR1	Abnormality of the metaphysis	HP:0000944
84168	ANTXR1	EEG abnormality	HP:0002353
84168	ANTXR1	Abnormality of the cerebral vasculature	HP:0100659
84168	ANTXR1	Keratoconus	HP:0000563
84168	ANTXR1	Thick lower lip vermilion	HP:0000179
84168	ANTXR1	Bell-shaped thorax	HP:0001591
84168	ANTXR1	Early balding	HP:0002234
84168	ANTXR1	Alopecia	HP:0001596
84168	ANTXR1	Joint hyperflexibility	HP:0005692
84168	ANTXR1	Hypertelorism	HP:0000316
84168	ANTXR1	Atherosclerosis	HP:0002621
84168	ANTXR1	Palpebral edema	HP:0100540
84168	ANTXR1	Delayed skeletal maturation	HP:0002750
84168	ANTXR1	Unerupted tooth	HP:0000706
84168	ANTXR1	Choanal atresia	HP:0000453
84168	ANTXR1	Prematurely aged appearance	HP:0007495
84168	ANTXR1	Ventriculomegaly	HP:0002119
84168	ANTXR1	Thick nasal alae	HP:0009928
84168	ANTXR1	Tubulointerstitial fibrosis	HP:0005576
84168	ANTXR1	Hyperextensible skin	HP:0000974
84168	ANTXR1	Anteverted nares	HP:0000463
84168	ANTXR1	Broad forehead	HP:0000337
84168	ANTXR1	Increased intracranial pressure	HP:0002516
84168	ANTXR1	Abnormality of pelvic girdle bone morphology	HP:0002644
84168	ANTXR1	Long philtrum	HP:0000343
84168	ANTXR1	Frontal bossing	HP:0002007
84168	ANTXR1	Scoliosis	HP:0002650
84168	ANTXR1	Micrognathia	HP:0000347
84168	ANTXR1	High forehead	HP:0000348
84168	ANTXR1	Intellectual disability	HP:0001249
84168	ANTXR1	Short stature	HP:0004322
84168	ANTXR1	Seizures	HP:0001250
84168	ANTXR1	Photophobia	HP:0000613
84168	ANTXR1	Strabismus	HP:0000486
84168	ANTXR1	Growth delay	HP:0001510
84168	ANTXR1	Joint hypermobility	HP:0001382
84168	ANTXR1	Everted lower lip vermilion	HP:0000232
84168	ANTXR1	Decreased skull ossification	HP:0004331
84168	ANTXR1	Epidermoid cyst	HP:0200040
84168	ANTXR1	Hearing impairment	HP:0000365
84168	ANTXR1	Hypotrichosis	HP:0001006
84168	ANTXR1	Abnormal form of the vertebral bodies	HP:0003312
84168	ANTXR1	Skin tags	HP:0010609
84168	ANTXR1	Low-set ears	HP:0000369
84168	ANTXR1	Breast hypoplasia	HP:0003187
84168	ANTXR1	Glaucoma	HP:0000501
84168	ANTXR1	Motor delay	HP:0001270
84168	ANTXR1	Visual impairment	HP:0000505
84168	ANTXR1	Abnormality of the clavicle	HP:0000889
84168	ANTXR1	Hypoplastic nipples	HP:0002557
84168	ANTXR1	Dysmenorrhea	HP:0100607
84168	ANTXR1	Nystagmus	HP:0000639
2250	FGF5	Autosomal dominant inheritance	HP:0000006
2250	FGF5	Cataract	HP:0000518
2250	FGF5	Autosomal recessive inheritance	HP:0000007
2250	FGF5	Long eyelashes	HP:0000527
84173	ELMOD3	Autosomal recessive inheritance	HP:0000007
84173	ELMOD3	Hearing impairment	HP:0000365
2253	FGF8	Abnormality of body height	HP:0000002
2253	FGF8	Gynecomastia	HP:0000771
2253	FGF8	Hemangioma	HP:0001028
2253	FGF8	Absence of pubertal development	HP:0008197
2253	FGF8	Autosomal dominant inheritance	HP:0000006
2253	FGF8	Gait disturbance	HP:0001288
2253	FGF8	Hypoplasia of the uterus	HP:0000013
2253	FGF8	Primary amenorrhea	HP:0000786
2253	FGF8	Hypoplasia of the ovary	HP:0008724
2253	FGF8	Male hypogonadism	HP:0000026
2253	FGF8	Cryptorchidism	HP:0000028
2253	FGF8	Decreased testicular size	HP:0008734
2253	FGF8	Erectile abnormalities	HP:0100639
2253	FGF8	Hypoplasia of penis	HP:0008736
2253	FGF8	Impotence	HP:0000802
2253	FGF8	Color vision defect	HP:0000551
2253	FGF8	Hypogonadotrophic hypogonadism	HP:0000044
2253	FGF8	Muscle weakness	HP:0001324
2253	FGF8	Asthma	HP:0002099
2253	FGF8	Tented upper lip vermilion	HP:0010804
2253	FGF8	Hypothyroidism	HP:0000821
2253	FGF8	Micropenis	HP:0000054
2253	FGF8	Paraplegia	HP:0010550
2253	FGF8	Delayed puberty	HP:0000823
2253	FGF8	Bimanual synkinesia	HP:0001335
2253	FGF8	Tremor	HP:0001337
2253	FGF8	Hyposmia	HP:0004409
2253	FGF8	Hypertelorism	HP:0000316
2253	FGF8	Anterior hypopituitarism	HP:0000830
2253	FGF8	Ambiguous genitalia	HP:0000062
2253	FGF8	Dyspareunia	HP:0030016
2253	FGF8	Short philtrum	HP:0000322
2253	FGF8	Increased female libido	HP:0030019
2253	FGF8	Abnormality of the voice	HP:0001608
2253	FGF8	Maternal diabetes	HP:0009800
2253	FGF8	Reduced number of teeth	HP:0009804
2253	FGF8	Congenital sensorineural hearing impairment	HP:0008527
2253	FGF8	Holoprosencephaly	HP:0001360
2253	FGF8	Premature birth	HP:0001622
2253	FGF8	Hypotelorism	HP:0000601
2253	FGF8	Scoliosis	HP:0002650
2253	FGF8	Skeletal dysplasia	HP:0002652
2253	FGF8	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
2253	FGF8	Camptodactyly	HP:0012385
2253	FGF8	Iris coloboma	HP:0000612
2253	FGF8	Tetralogy of Fallot	HP:0001636
2253	FGF8	Secondary amenorrhea	HP:0000869
2253	FGF8	Panhypopituitarism	HP:0000871
2253	FGF8	Renal agenesis	HP:0000104
2253	FGF8	Breast hypoplasia	HP:0003187
2253	FGF8	Short nose	HP:0003196
2253	FGF8	Nystagmus	HP:0000639
2253	FGF8	Ichthyosis	HP:0008064
2253	FGF8	EMG: myopathic abnormalities	HP:0003458
2253	FGF8	Female hypogonadism	HP:0000134
2253	FGF8	Decreased fertility	HP:0000144
2253	FGF8	Midnasal stenosis	HP:0010644
2253	FGF8	Sensorineural hearing impairment	HP:0000407
2253	FGF8	Depressed nasal bridge	HP:0005280
2253	FGF8	Abnormality of the dentition	HP:0000164
2253	FGF8	Cleft lip	HP:0410030
2253	FGF8	Osteopenia	HP:0000938
2253	FGF8	Single median maxillary incisor	HP:0006315
2253	FGF8	Osteoporosis	HP:0000939
2253	FGF8	Cleft palate	HP:0000175
2253	FGF8	Sparse body hair	HP:0002231
2253	FGF8	Non-obstructive azoospermia	HP:0011961
2253	FGF8	Cyclopia	HP:0009914
2253	FGF8	Delayed skeletal maturation	HP:0002750
2253	FGF8	Narrow nasal bridge	HP:0000446
2253	FGF8	Recurrent fractures	HP:0002757
2253	FGF8	Choanal atresia	HP:0000453
2253	FGF8	Eunuchoid habitus	HP:0003782
2253	FGF8	Duodenal atresia	HP:0002247
2253	FGF8	Generalized joint laxity	HP:0002761
2253	FGF8	Anosmia	HP:0000458
2253	FGF8	Depressivity	HP:0000716
2253	FGF8	Anteverted nares	HP:0000463
2253	FGF8	Wide intermamillary distance	HP:0006610
2253	FGF8	Abnormality of cardiovascular system morphology	HP:0030680
2253	FGF8	High palate	HP:0000218
2253	FGF8	Small pituitary gland	HP:0012506
2253	FGF8	Pes cavus	HP:0001761
2253	FGF8	Intellectual disability	HP:0001249
2253	FGF8	Seizures	HP:0001250
2253	FGF8	Short stature	HP:0004322
2253	FGF8	Ataxia	HP:0001251
2253	FGF8	Pes planus	HP:0001763
2253	FGF8	Anxiety	HP:0000739
2253	FGF8	Muscular hypotonia	HP:0001252
2253	FGF8	Strabismus	HP:0000486
2253	FGF8	Intrauterine growth retardation	HP:0001511
2253	FGF8	Obesity	HP:0001513
2253	FGF8	Decreased serum testosterone level	HP:0040171
2253	FGF8	Dysarthria	HP:0001260
2253	FGF8	Visual impairment	HP:0000505
2253	FGF8	Agenesis of corpus callosum	HP:0001274
2253	FGF8	Absence of secondary sex characteristics	HP:0008187
2253	FGF8	Ptosis	HP:0000508
2253	FGF8	Microcephaly	HP:0000252
2253	FGF8	Reduced bone mineral density	HP:0004349
2254	FGF9	Metatarsal synostosis	HP:0001440
2254	FGF9	Humeroradial synostosis	HP:0003041
2254	FGF9	Brachydactyly	HP:0001156
2254	FGF9	Facial asymmetry	HP:0000324
2254	FGF9	Metacarpal synostosis	HP:0009701
2254	FGF9	Autosomal dominant inheritance	HP:0000006
2254	FGF9	Broad hallux	HP:0010055
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	Hallux varus	HP:0008080
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
2254	FGF9	Cutaneous syndactyly of toes	HP:0010621
2255	FGF10	Nasolacrimal duct obstruction	HP:0000579
2255	FGF10	Absent lacrimal punctum	HP:0001092
2255	FGF10	Autosomal dominant inheritance	HP:0000006
2255	FGF10	Absent radius	HP:0003974
2255	FGF10	Absence of Stensen duct	HP:0000198
2255	FGF10	Broad hallux	HP:0010055
2255	FGF10	Alacrima	HP:0000522
2255	FGF10	Bilateral triphalangeal thumbs	HP:0005707
2255	FGF10	Aplasia of the parotid gland	HP:0009740
2255	FGF10	Nephrosclerosis	HP:0009741
2255	FGF10	Hyperextensible skin	HP:0000974
2255	FGF10	Hypoplasia of the ulna	HP:0003022
2255	FGF10	Broad forehead	HP:0000337
2255	FGF10	2-3 finger syndactyly	HP:0001233
2255	FGF10	Hypoplasia of the lacrimal punctum	HP:0007892
2255	FGF10	Partial duplication of thumb phalanx	HP:0009944
2255	FGF10	Xerostomia	HP:0000217
2255	FGF10	Hypoplasia of dental enamel	HP:0006297
2255	FGF10	Mixed hearing impairment	HP:0000410
2255	FGF10	Hypodontia	HP:0000668
2255	FGF10	Hypoplastic lacrimal duct	HP:0007900
2255	FGF10	Small thenar eminence	HP:0001245
2255	FGF10	Carious teeth	HP:0000670
2255	FGF10	Preaxial polydactyly	HP:0100258
2255	FGF10	Absent proximal phalanx of thumb	HP:0009637
2255	FGF10	Corneal perforation	HP:0100583
2255	FGF10	Coronal hypospadias	HP:0008743
2255	FGF10	Lacrimal gland aplasia	HP:0007656
2255	FGF10	Hypoplasia of the radius	HP:0002984
2255	FGF10	Renal agenesis	HP:0000104
2255	FGF10	Delayed eruption of primary teeth	HP:0000680
2255	FGF10	Limbal stem cell deficiency	HP:0032107
2255	FGF10	Dacryocystitis	HP:0000620
2255	FGF10	Downslanted palpebral fissures	HP:0000494
2255	FGF10	Recurrent corneal erosions	HP:0000495
2255	FGF10	Clinodactyly of the 5th finger	HP:0004209
2255	FGF10	Lacrimal gland hypoplasia	HP:0007732
2255	FGF10	Periorbital fullness	HP:0000629
2255	FGF10	Radial deviation of the 3rd finger	HP:0009462
2255	FGF10	Conical incisor	HP:0011065
2255	FGF10	Telecanthus	HP:0000506
2255	FGF10	Cupped ear	HP:0000378
2255	FGF10	Hypertelorism	HP:0000316
2257	FGF12	Autosomal dominant inheritance	HP:0000006
2257	FGF12	Optic atrophy	HP:0000648
2257	FGF12	Generalized hypotonia	HP:0001290
2257	FGF12	Cerebral atrophy	HP:0002059
2257	FGF12	Unsteady gait	HP:0002317
2257	FGF12	Rigidity	HP:0002063
2257	FGF12	Encephalopathy	HP:0001298
2257	FGF12	Decreased fetal movement	HP:0001558
2257	FGF12	Limb ataxia	HP:0002070
2257	FGF12	Hypodontia	HP:0000668
2257	FGF12	Abnormal myelination	HP:0012447
2257	FGF12	Optic disc pallor	HP:0000543
2257	FGF12	Poor speech	HP:0002465
2257	FGF12	Retinal degeneration	HP:0000546
2257	FGF12	Chronic constipation	HP:0012450
2257	FGF12	Difficulty walking	HP:0002355
2257	FGF12	Dyskinesia	HP:0100660
2257	FGF12	Myoclonus	HP:0001336
2257	FGF12	Tremor	HP:0001337
2257	FGF12	Feeding difficulties	HP:0011968
2257	FGF12	Absent speech	HP:0001344
2257	FGF12	Epileptic encephalopathy	HP:0200134
2257	FGF12	Developmental regression	HP:0002376
2257	FGF12	Limb hypertonia	HP:0002509
2257	FGF12	Autism	HP:0000717
2257	FGF12	Status epilepticus	HP:0002133
2257	FGF12	Hypsarrhythmia	HP:0002521
2257	FGF12	Multifocal epileptiform discharges	HP:0010841
2257	FGF12	High forehead	HP:0000348
2257	FGF12	EEG with multifocal slow activity	HP:0010844
2257	FGF12	Intellectual disability	HP:0001249
2257	FGF12	Cerebral visual impairment	HP:0100704
2257	FGF12	Short stature	HP:0004322
2257	FGF12	Ataxia	HP:0001251
2257	FGF12	Gastroesophageal reflux	HP:0002020
2257	FGF12	Failure to thrive	HP:0001508
2257	FGF12	Impulsivity	HP:0100710
2257	FGF12	Muscular hypotonia of the trunk	HP:0008936
2257	FGF12	Spasticity	HP:0001257
2257	FGF12	Attention deficit hyperactivity disorder	HP:0007018
2257	FGF12	Postnatal microcephaly	HP:0005484
2257	FGF12	Inability to walk	HP:0002540
2257	FGF12	Downslanted palpebral fissures	HP:0000494
2257	FGF12	Delayed speech and language development	HP:0000750
2257	FGF12	Global developmental delay	HP:0001263
2257	FGF12	Hyporeflexia	HP:0001265
2257	FGF12	Mental deterioration	HP:0001268
2257	FGF12	Variable expressivity	HP:0003828
2257	FGF12	Poor head control	HP:0002421
2257	FGF12	Abnormality of vision	HP:0000504
2257	FGF12	Cerebellar atrophy	HP:0001272
2257	FGF12	Abnormal corpus callosum morphology	HP:0001273
2257	FGF12	Microcephaly	HP:0000252
2257	FGF12	Ptosis	HP:0000508
2257	FGF12	Nystagmus	HP:0000639
2259	FGF14	Gaze-evoked nystagmus	HP:0000640
2259	FGF14	Akinesia	HP:0002304
2259	FGF14	Dysmetric saccades	HP:0000641
2259	FGF14	Red-green dyschromatopsia	HP:0000642
2259	FGF14	Autosomal dominant inheritance	HP:0000006
2259	FGF14	Orofacial dyskinesia	HP:0002310
2259	FGF14	Hand tremor	HP:0002378
2259	FGF14	Depressivity	HP:0000716
2259	FGF14	Aggressive behavior	HP:0000718
2259	FGF14	Heterogeneous	HP:0001425
2259	FGF14	Gait ataxia	HP:0002066
2259	FGF14	Limb ataxia	HP:0002070
2259	FGF14	Impaired smooth pursuit	HP:0007772
2259	FGF14	Slow progression	HP:0003677
2259	FGF14	Truncal ataxia	HP:0002078
2259	FGF14	Dysgraphia	HP:0010526
2259	FGF14	Pes cavus	HP:0001761
2259	FGF14	Strabismus	HP:0000486
2259	FGF14	Intellectual disability, mild	HP:0001256
2259	FGF14	Head tremor	HP:0002346
2259	FGF14	Dysarthria	HP:0001260
2259	FGF14	Memory impairment	HP:0002354
2259	FGF14	Difficulty walking	HP:0002355
2259	FGF14	Cerebellar atrophy	HP:0001272
2259	FGF14	Postural tremor	HP:0002174
2259	FGF14	Sensory axonal neuropathy	HP:0003390
2259	FGF14	Impaired vibratory sensation	HP:0002495
2260	FGFR1	Abnormality of body height	HP:0000002
2260	FGFR1	Omphalocele	HP:0001539
2260	FGFR1	Hemangioma	HP:0001028
2260	FGFR1	Absence of pubertal development	HP:0008197
2260	FGFR1	Autosomal dominant inheritance	HP:0000006
2260	FGFR1	Subcutaneous lipoma	HP:0001031
2260	FGFR1	Proptosis	HP:0000520
2260	FGFR1	Hypoplasia of the uterus	HP:0000013
2260	FGFR1	Tracheoesophageal fistula	HP:0002575
2260	FGFR1	Rigidity	HP:0002063
2260	FGFR1	Hypoplasia of the ovary	HP:0008724
2260	FGFR1	Gonadotropin deficiency	HP:0008213
2260	FGFR1	Inguinal hernia	HP:0000023
2260	FGFR1	Midface retrusion	HP:0011800
2260	FGFR1	Male hypogonadism	HP:0000026
2260	FGFR1	Cryptorchidism	HP:0000028
2260	FGFR1	Nevus flammeus	HP:0001052
2260	FGFR1	Decreased testicular size	HP:0008734
2260	FGFR1	Hypoplasia of the corpus callosum	HP:0002079
2260	FGFR1	Hypoplasia of penis	HP:0008736
2260	FGFR1	Encephalocele	HP:0002084
2260	FGFR1	Color vision defect	HP:0000551
2260	FGFR1	Long penis	HP:0000040
2260	FGFR1	Broad thumb	HP:0011304
2260	FGFR1	Chordee	HP:0000041
2260	FGFR1	Hypogonadotrophic hypogonadism	HP:0000044
2260	FGFR1	Pulmonary arterial hypertension	HP:0002092
2260	FGFR1	Respiratory insufficiency	HP:0002093
2260	FGFR1	Hypospadias	HP:0000047
2260	FGFR1	Respiratory distress	HP:0002098
2260	FGFR1	Asthma	HP:0002099
2260	FGFR1	Tented upper lip vermilion	HP:0010804
2260	FGFR1	Micropenis	HP:0000054
2260	FGFR1	Bicoronal synostosis	HP:0011318
2260	FGFR1	Microphthalmia	HP:0000568
2260	FGFR1	Alopecia	HP:0001596
2260	FGFR1	Ambiguous genitalia	HP:0000062
2260	FGFR1	Ventriculomegaly	HP:0002119
2260	FGFR1	Maternal diabetes	HP:0009800
2260	FGFR1	Abnormality of the voice	HP:0001608
2260	FGFR1	Cerebral cortical atrophy	HP:0002120
2260	FGFR1	Abnormal bone ossification	HP:0011849
2260	FGFR1	Shallow orbits	HP:0000586
2260	FGFR1	Short phalanx of finger	HP:0009803
2260	FGFR1	Reduced number of teeth	HP:0009804
2260	FGFR1	Abnormal anterior chamber morphology	HP:0000593
2260	FGFR1	2-3 toe syndactyly	HP:0004691
2260	FGFR1	Porencephalic cyst	HP:0002132
2260	FGFR1	Premature birth	HP:0001622
2260	FGFR1	Hypotelorism	HP:0000601
2260	FGFR1	Scoliosis	HP:0002650
2260	FGFR1	Fatigue	HP:0012378
2260	FGFR1	Skeletal dysplasia	HP:0002652
2260	FGFR1	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
2260	FGFR1	Ventricular septal defect	HP:0001629
2260	FGFR1	Atrial septal defect	HP:0001631
2260	FGFR1	Camptodactyly	HP:0012385
2260	FGFR1	Limb undergrowth	HP:0009826
2260	FGFR1	Increased susceptibility to fractures	HP:0002659
2260	FGFR1	Iris coloboma	HP:0000612
2260	FGFR1	Tetralogy of Fallot	HP:0001636
2260	FGFR1	Abnormal nasolacrimal system morphology	HP:0000614
2260	FGFR1	Renal agenesis	HP:0000104
2260	FGFR1	Eyelid coloboma	HP:0000625
2260	FGFR1	Aortic valve stenosis	HP:0001650
2260	FGFR1	Breast hypoplasia	HP:0003187
2260	FGFR1	Cloverleaf skull	HP:0002676
2260	FGFR1	Limbal dermoid	HP:0001140
2260	FGFR1	Short nose	HP:0003196
2260	FGFR1	Pelvic kidney	HP:0000125
2260	FGFR1	Hydronephrosis	HP:0000126
2260	FGFR1	Nystagmus	HP:0000639
2260	FGFR1	Brachydactyly	HP:0001156
2260	FGFR1	Female hypogonadism	HP:0000134
2260	FGFR1	Syndactyly	HP:0001159
2260	FGFR1	Sclerocornea	HP:0000647
2260	FGFR1	Multiple unerupted teeth	HP:0006283
2260	FGFR1	Decreased fertility	HP:0000144
2260	FGFR1	Coarctation of aorta	HP:0001680
2260	FGFR1	Broad palm	HP:0001169
2260	FGFR1	Subvalvular aortic stenosis	HP:0001682
2260	FGFR1	Split hand	HP:0001171
2260	FGFR1	Synophrys	HP:0000664
2260	FGFR1	Hypernatremia	HP:0003228
2260	FGFR1	Depressed nasal bridge	HP:0005280
2260	FGFR1	Sporadic	HP:0003745
2260	FGFR1	Abnormality of the dentition	HP:0000164
2260	FGFR1	Oligodontia	HP:0000677
2260	FGFR1	Dental crowding	HP:0000678
2260	FGFR1	Tricuspid valve prolapse	HP:0001704
2260	FGFR1	Single median maxillary incisor	HP:0006315
2260	FGFR1	Cleft palate	HP:0000175
2260	FGFR1	Microdontia	HP:0000691
2260	FGFR1	Short palm	HP:0004279
2260	FGFR1	Sparse body hair	HP:0002231
2260	FGFR1	Non-obstructive azoospermia	HP:0011961
2260	FGFR1	Cyclopia	HP:0009914
2260	FGFR1	Capillary hemangioma	HP:0005306
2260	FGFR1	Delayed skeletal maturation	HP:0002750
2260	FGFR1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2260	FGFR1	Unerupted tooth	HP:0000706
2260	FGFR1	Meckel diverticulum	HP:0002245
2260	FGFR1	Recurrent fractures	HP:0002757
2260	FGFR1	Eunuchoid habitus	HP:0003782
2260	FGFR1	Duodenal atresia	HP:0002247
2260	FGFR1	Rhizomelia	HP:0008905
2260	FGFR1	Generalized joint laxity	HP:0002761
2260	FGFR1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
2260	FGFR1	Abnormality of the nasopharynx	HP:0001739
2260	FGFR1	Abnormal cartilage morphology	HP:0002763
2260	FGFR1	Cleft upper lip	HP:0000204
2260	FGFR1	Depressivity	HP:0000716
2260	FGFR1	Autism	HP:0000717
2260	FGFR1	Nasal obstruction	HP:0001742
2260	FGFR1	Broad metacarpals	HP:0001230
2260	FGFR1	Short middle phalanx of toe	HP:0003795
2260	FGFR1	Lobar holoprosencephaly	HP:0006870
2260	FGFR1	High palate	HP:0000218
2260	FGFR1	Bronchomalacia	HP:0002780
2260	FGFR1	Intellectual disability	HP:0001249
2260	FGFR1	Pes cavus	HP:0001761
2260	FGFR1	Short stature	HP:0004322
2260	FGFR1	Seizures	HP:0001250
2260	FGFR1	Cartilaginous trachea	HP:0005347
2260	FGFR1	Ataxia	HP:0001251
2260	FGFR1	Pes planus	HP:0001763
2260	FGFR1	Anxiety	HP:0000739
2260	FGFR1	Muscular hypotonia	HP:0001252
2260	FGFR1	Pseudoarthrosis	HP:0005864
2260	FGFR1	Broad foot	HP:0001769
2260	FGFR1	Spasticity	HP:0001257
2260	FGFR1	Toe syndactyly	HP:0001770
2260	FGFR1	Decreased serum testosterone level	HP:0040171
2260	FGFR1	Dysarthria	HP:0001260
2260	FGFR1	Short foot	HP:0001773
2260	FGFR1	Osteolysis	HP:0002797
2260	FGFR1	Hydrocephalus	HP:0000238
2260	FGFR1	Delayed speech and language development	HP:0000750
2260	FGFR1	Global developmental delay	HP:0001263
2260	FGFR1	Abnormal form of the vertebral bodies	HP:0003312
2260	FGFR1	Trigonocephaly	HP:0000243
2260	FGFR1	Brachyturricephaly	HP:0000244
2260	FGFR1	Incomplete penetrance	HP:0003829
2260	FGFR1	Hemiparesis	HP:0001269
2260	FGFR1	Broad metatarsal	HP:0001783
2260	FGFR1	Lumbar hemivertebrae	HP:0008439
2260	FGFR1	Brachycephaly	HP:0000248
2260	FGFR1	Agenesis of corpus callosum	HP:0001274
2260	FGFR1	Microcephaly	HP:0000252
2260	FGFR1	Osteochondrosis	HP:0040188
2260	FGFR1	Mutism	HP:0002300
2260	FGFR1	Reduced bone mineral density	HP:0004349
2260	FGFR1	Hemiplegia	HP:0002301
2260	FGFR1	Lipoma	HP:0012032
2260	FGFR1	Macrocephaly	HP:0000256
2260	FGFR1	Gynecomastia	HP:0000771
2260	FGFR1	Arnold-Chiari malformation	HP:0002308
2260	FGFR1	Gait disturbance	HP:0001288
2260	FGFR1	Hypoplastic toenails	HP:0001800
2260	FGFR1	Psychomotor retardation	HP:0025356
2260	FGFR1	Malar flattening	HP:0000272
2260	FGFR1	Primary amenorrhea	HP:0000786
2260	FGFR1	Corneal opacity	HP:0007957
2260	FGFR1	Hemiplegia/hemiparesis	HP:0004374
2260	FGFR1	Dandy-Walker malformation	HP:0001305
2260	FGFR1	Epicanthus	HP:0000286
2260	FGFR1	Erectile abnormalities	HP:0100639
2260	FGFR1	Bone cyst	HP:0012062
2260	FGFR1	Echolalia	HP:0010529
2260	FGFR1	Impotence	HP:0000802
2260	FGFR1	Neonatal hypotonia	HP:0001319
2260	FGFR1	Cerebellar hypoplasia	HP:0001321
2260	FGFR1	Muscle weakness	HP:0001324
2260	FGFR1	Mandibular prognathia	HP:0000303
2260	FGFR1	Absent septum pellucidum	HP:0001331
2260	FGFR1	Hypothyroidism	HP:0000821
2260	FGFR1	Dysphasia	HP:0002357
2260	FGFR1	Paraplegia	HP:0010550
2260	FGFR1	Bimanual synkinesia	HP:0001335
2260	FGFR1	Delayed puberty	HP:0000823
2260	FGFR1	Sleep disturbance	HP:0002360
2260	FGFR1	Tremor	HP:0001337
2260	FGFR1	Hyposmia	HP:0004409
2260	FGFR1	Hypertelorism	HP:0000316
2260	FGFR1	Anterior hypopituitarism	HP:0000830
2260	FGFR1	Dyspareunia	HP:0030016
2260	FGFR1	Short metacarpal	HP:0010049
2260	FGFR1	Short philtrum	HP:0000322
2260	FGFR1	Increased female libido	HP:0030019
2260	FGFR1	Broad hallux	HP:0010055
2260	FGFR1	Hypoplasia of the maxilla	HP:0000327
2260	FGFR1	Broad hallux phalanx	HP:0010059
2260	FGFR1	Aphasia	HP:0002381
2260	FGFR1	Congenital sensorineural hearing impairment	HP:0008527
2260	FGFR1	Holoprosencephaly	HP:0001360
2260	FGFR1	Prominent supraorbital ridges	HP:0000336
2260	FGFR1	Craniosynostosis	HP:0001363
2260	FGFR1	Long philtrum	HP:0000343
2260	FGFR1	Bowing of the long bones	HP:0006487
2260	FGFR1	Coronal craniosynostosis	HP:0004440
2260	FGFR1	Hypoplasia of the frontal bone	HP:0005466
2260	FGFR1	Micrognathia	HP:0000347
2260	FGFR1	Interrupted aortic arch	HP:0011611
2260	FGFR1	High forehead	HP:0000348
2260	FGFR1	Arachnoid cyst	HP:0100702
2260	FGFR1	Aplasia/Hypoplasia of the radius	HP:0006501
2260	FGFR1	Secondary amenorrhea	HP:0000869
2260	FGFR1	Posteriorly rotated ears	HP:0000358
2260	FGFR1	Panhypopituitarism	HP:0000871
2260	FGFR1	Diabetes insipidus	HP:0000873
2260	FGFR1	Peripheral pulmonary artery stenosis	HP:0004969
2260	FGFR1	Aqueductal stenosis	HP:0002410
2260	FGFR1	Hearing impairment	HP:0000365
2260	FGFR1	Low-set, posteriorly rotated ears	HP:0000368
2260	FGFR1	Low-set ears	HP:0000369
2260	FGFR1	Hypoplastic scapulae	HP:0000882
2260	FGFR1	Abnormality of the clavicle	HP:0000889
2260	FGFR1	Broad phalanx	HP:0006009
2260	FGFR1	Linear hyperpigmentation	HP:0007546
2260	FGFR1	Short hallux	HP:0010109
2260	FGFR1	Subcortical cerebral atrophy	HP:0012157
2260	FGFR1	Neoplasm of the skeletal system	HP:0010622
2260	FGFR1	Preauricular skin tag	HP:0000384
2260	FGFR1	Ichthyosis	HP:0008064
2260	FGFR1	Aplasia/Hypoplasia of the thumb	HP:0009601
2260	FGFR1	EMG: myopathic abnormalities	HP:0003458
2260	FGFR1	Anterior pituitary hypoplasia	HP:0010627
2260	FGFR1	Clinodactyly	HP:0030084
2260	FGFR1	Tetraplegia	HP:0002445
2260	FGFR1	Craniofacial hyperostosis	HP:0004493
2260	FGFR1	Paralysis	HP:0003470
2260	FGFR1	Hallux varus	HP:0008080
2260	FGFR1	Heterogeneous	HP:0001425
2260	FGFR1	Midnasal stenosis	HP:0010644
2260	FGFR1	Sensorineural hearing impairment	HP:0000407
2260	FGFR1	Visceral angiomatosis	HP:0100761
2260	FGFR1	Multiple central nervous system lipomas	HP:0100251
2260	FGFR1	Protruding ear	HP:0000411
2260	FGFR1	Platyspondyly	HP:0000926
2260	FGFR1	Ectrodactyly	HP:0100257
2260	FGFR1	Somatic mosaicism	HP:0001442
2260	FGFR1	Lipodystrophy	HP:0009125
2260	FGFR1	Polydipsia	HP:0001959
2260	FGFR1	Osteopenia	HP:0000938
2260	FGFR1	Osteoporosis	HP:0000939
2260	FGFR1	Wide nasal bridge	HP:0000431
2260	FGFR1	Dysostosis multiplex	HP:0000943
2260	FGFR1	Severe short stature	HP:0003510
2260	FGFR1	Calcaneonavicular fusion	HP:0008122
2260	FGFR1	Wide nose	HP:0000445
2260	FGFR1	Dry skin	HP:0000958
2260	FGFR1	Narrow nasal bridge	HP:0000446
2260	FGFR1	Choanal stenosis	HP:0000452
2260	FGFR1	Choanal atresia	HP:0000453
2260	FGFR1	Hypohidrosis	HP:0000966
2260	FGFR1	Anosmia	HP:0000458
2260	FGFR1	Subcutaneous nodule	HP:0001482
2260	FGFR1	Anteverted nares	HP:0000463
2260	FGFR1	Wide intermamillary distance	HP:0006610
2260	FGFR1	Cerebral calcification	HP:0002514
2260	FGFR1	Finger syndactyly	HP:0006101
2260	FGFR1	Short neck	HP:0000470
2260	FGFR1	Frontal bossing	HP:0002007
2260	FGFR1	Abnormality of cardiovascular system morphology	HP:0030680
2260	FGFR1	Shortening of all middle phalanges of the fingers	HP:0006110
2260	FGFR1	Xanthomatosis	HP:0000991
2260	FGFR1	Muscle stiffness	HP:0003552
2260	FGFR1	Humeroradial synostosis	HP:0003041
2260	FGFR1	Constipation	HP:0002019
2260	FGFR1	Failure to thrive	HP:0001508
2260	FGFR1	Strabismus	HP:0000486
2260	FGFR1	Intrauterine growth retardation	HP:0001511
2260	FGFR1	Retinopathy	HP:0000488
2260	FGFR1	Obesity	HP:0001513
2260	FGFR1	Septo-optic dysplasia	HP:0100842
2260	FGFR1	Cortical dysplasia	HP:0002539
2260	FGFR1	Downslanted palpebral fissures	HP:0000494
2260	FGFR1	Non-midline cleft lip	HP:0100335
2260	FGFR1	Esophageal atresia	HP:0002032
2260	FGFR1	Abnormal eyelash morphology	HP:0000499
2260	FGFR1	Multiple lipomas	HP:0001012
2260	FGFR1	Short metatarsal	HP:0010743
2260	FGFR1	Visual impairment	HP:0000505
2260	FGFR1	Telecanthus	HP:0000506
2260	FGFR1	Failure to thrive in infancy	HP:0001531
2260	FGFR1	Absence of secondary sex characteristics	HP:0008187
2260	FGFR1	Ptosis	HP:0000508
2260	FGFR1	Hypoplasia of the iris	HP:0007676
2260	FGFR1	Elbow ankylosis	HP:0003070
10452	TOMM40	Intellectual disability	HP:0001249
10452	TOMM40	Hallucinations	HP:0000738
10452	TOMM40	Seizures	HP:0001250
10452	TOMM40	Ataxia	HP:0001251
10452	TOMM40	Cerebral cortical atrophy	HP:0002120
10452	TOMM40	Neurofibrillary tangles	HP:0002185
10452	TOMM40	Agitation	HP:0000713
10452	TOMM40	Confusion	HP:0001289
10452	TOMM40	Semantic dementia	HP:0030219
10452	TOMM40	Aphasia	HP:0002381
10452	TOMM40	Deposits immunoreactive to beta-amyloid protein	HP:0003791
10452	TOMM40	Abnormal social behavior	HP:0012433
10452	TOMM40	Oculomotor apraxia	HP:0000657
10452	TOMM40	Memory impairment	HP:0002354
10452	TOMM40	Parkinsonism	HP:0001300
10452	TOMM40	Myoclonus	HP:0001336
10452	TOMM40	Abnormality of vision	HP:0000504
10452	TOMM40	Hypertonia	HP:0001276
10452	TOMM40	Finger agnosia	HP:0010525
10452	TOMM40	Dysgraphia	HP:0010526
10452	TOMM40	Disinhibition	HP:0000734
10452	TOMM40	Language impairment	HP:0002463
2261	FGFR3	Short femoral neck	HP:0100864
2261	FGFR3	Autosomal dominant inheritance	HP:0000006
2261	FGFR3	Autosomal recessive inheritance	HP:0000007
2261	FGFR3	Proptosis	HP:0000520
2261	FGFR3	Hypermelanotic macule	HP:0001034
2261	FGFR3	Alacrima	HP:0000522
2261	FGFR3	Abnormality of the antihelix	HP:0009738
2261	FGFR3	Carcinoma	HP:0030731
2261	FGFR3	Aplasia of the parotid gland	HP:0009740
2261	FGFR3	Nephrosclerosis	HP:0009741
2261	FGFR3	Limited hip extension	HP:0003093
2261	FGFR3	Decreased fetal movement	HP:0001558
2261	FGFR3	Midface retrusion	HP:0011800
2261	FGFR3	Short femur	HP:0003097
2261	FGFR3	Polyhydramnios	HP:0001561
2261	FGFR3	Azoospermia	HP:0000027
2261	FGFR3	Migraine	HP:0002076
2261	FGFR3	Cryptorchidism	HP:0000028
2261	FGFR3	Hypopigmented skin patches	HP:0001053
2261	FGFR3	Numerous nevi	HP:0001054
2261	FGFR3	Hypoplasia of the corpus callosum	HP:0002079
2261	FGFR3	Encephalocele	HP:0002084
2261	FGFR3	Coronal hypospadias	HP:0008743
2261	FGFR3	Broad thumb	HP:0011304
2261	FGFR3	Pulmonary arterial hypertension	HP:0002092
2261	FGFR3	Respiratory insufficiency	HP:0002093
2261	FGFR3	Redundant skin	HP:0001582
2261	FGFR3	Aplasia/Hypoplasia of the lungs	HP:0006703
2261	FGFR3	Thimble-shaped middle phalanges of hand	HP:0006193
2261	FGFR3	Lacrimal gland hypoplasia	HP:0007732
2261	FGFR3	Open bite	HP:0010807
2261	FGFR3	Joint hyperflexibility	HP:0005692
2261	FGFR3	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
2261	FGFR3	Teratoma	HP:0009792
2261	FGFR3	Exotropia	HP:0000577
2261	FGFR3	Short thorax	HP:0010306
2261	FGFR3	Nasolacrimal duct obstruction	HP:0000579
2261	FGFR3	Absent lacrimal punctum	HP:0001092
2261	FGFR3	Ventriculomegaly	HP:0002119
2261	FGFR3	Bilateral triphalangeal thumbs	HP:0005707
2261	FGFR3	Abnormality of the kidney	HP:0000077
2261	FGFR3	Flat face	HP:0012368
2261	FGFR3	Severe global developmental delay	HP:0011344
2261	FGFR3	Abnormality of the elbow	HP:0009811
2261	FGFR3	Transitional cell carcinoma of the bladder	HP:0006740
2261	FGFR3	Abnormality of pelvic girdle bone morphology	HP:0002644
2261	FGFR3	Wormian bones	HP:0002645
2261	FGFR3	Aplasia/hypoplasia of the extremities	HP:0009815
2261	FGFR3	Hypotelorism	HP:0000601
2261	FGFR3	Scoliosis	HP:0002650
2261	FGFR3	Skeletal dysplasia	HP:0002652
2261	FGFR3	Atrial septal defect	HP:0001631
2261	FGFR3	Neoplasm of the stomach	HP:0006753
2261	FGFR3	Tall stature	HP:0000098
2261	FGFR3	Congestive heart failure	HP:0001635
2261	FGFR3	Narrow sacroiliac notch	HP:0008803
2261	FGFR3	Visual field defect	HP:0001123
2261	FGFR3	Spinal stenosis with reduced interpedicular distance	HP:0005733
2261	FGFR3	Neoplasm	HP:0002664
2261	FGFR3	Renal agenesis	HP:0000104
2261	FGFR3	Patent ductus arteriosus	HP:0001643
2261	FGFR3	Dacryocystitis	HP:0000620
2261	FGFR3	Sudden cardiac death	HP:0001645
2261	FGFR3	Intellectual disability, severe	HP:0010864
2261	FGFR3	Short sacroiliac notch	HP:0003185
2261	FGFR3	Clinodactyly of the 5th finger	HP:0004209
2261	FGFR3	Cloverleaf skull	HP:0002676
2261	FGFR3	Small foramen magnum	HP:0002677
2261	FGFR3	Periorbital fullness	HP:0000629
2261	FGFR3	Narrow internal auditory canal	HP:0011386
2261	FGFR3	Increased nuchal translucency	HP:0010880
2261	FGFR3	Blepharospasm	HP:0000643
2261	FGFR3	Brachydactyly	HP:0001156
2261	FGFR3	Gonadal dysgenesis	HP:0000133
2261	FGFR3	Amblyopia	HP:0000646
2261	FGFR3	Optic atrophy	HP:0000648
2261	FGFR3	Abnormality of lower limb joint	HP:0100491
2261	FGFR3	Intellectual disability, profound	HP:0002187
2261	FGFR3	Abnormality of the metacarpal bones	HP:0001163
2261	FGFR3	Camptodactyly of finger	HP:0100490
2261	FGFR3	Childhood onset short-limb short stature	HP:0011405
2261	FGFR3	Arachnodactyly	HP:0001166
2261	FGFR3	High, narrow palate	HP:0002705
2261	FGFR3	Split hand	HP:0001171
2261	FGFR3	Generalized-onset seizure	HP:0002197
2261	FGFR3	Hypoplasia of dental enamel	HP:0006297
2261	FGFR3	Brain atrophy	HP:0012444
2261	FGFR3	Hypodontia	HP:0000668
2261	FGFR3	Carious teeth	HP:0000670
2261	FGFR3	Depressed nasal bridge	HP:0005280
2261	FGFR3	Sporadic	HP:0003745
2261	FGFR3	Underdeveloped supraorbital ridges	HP:0009891
2261	FGFR3	Dental crowding	HP:0000678
2261	FGFR3	Delayed eruption of primary teeth	HP:0000680
2261	FGFR3	Prominent crus of helix	HP:0009899
2261	FGFR3	Abnormal palate morphology	HP:0000174
2261	FGFR3	Cleft palate	HP:0000175
2261	FGFR3	Triphalangeal thumb	HP:0001199
2261	FGFR3	Tarsal synostosis	HP:0008368
2261	FGFR3	Dental malocclusion	HP:0000689
2261	FGFR3	Inflammatory abnormality of the eye	HP:0100533
2261	FGFR3	Short palm	HP:0004279
2261	FGFR3	Short middle phalanx of finger	HP:0005819
2261	FGFR3	Narrow palate	HP:0000189
2261	FGFR3	Cognitive impairment	HP:0100543
2261	FGFR3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2261	FGFR3	Osteoarthritis	HP:0002758
2261	FGFR3	Absence of Stensen duct	HP:0000198
2261	FGFR3	Rhizomelia	HP:0008905
2261	FGFR3	Generalized joint laxity	HP:0002761
2261	FGFR3	Lethal short-limbed short stature	HP:0008909
2261	FGFR3	2-3 finger syndactyly	HP:0001233
2261	FGFR3	Short middle phalanx of toe	HP:0003795
2261	FGFR3	Hypoplasia of the lacrimal punctum	HP:0007892
2261	FGFR3	Partial duplication of thumb phalanx	HP:0009944
2261	FGFR3	Capitate-hamate fusion	HP:0001241
2261	FGFR3	Neonatal short-limb short stature	HP:0008921
2261	FGFR3	Xerostomia	HP:0000217
2261	FGFR3	High palate	HP:0000218
2261	FGFR3	Hypoplastic lacrimal duct	HP:0007900
2261	FGFR3	Abnormality of neuronal migration	HP:0002269
2261	FGFR3	Upper airway obstruction	HP:0002781
2261	FGFR3	Small thenar eminence	HP:0001245
2261	FGFR3	Lumbar kyphosis in infancy	HP:0008414
2261	FGFR3	Osteochondroma	HP:0030431
2261	FGFR3	Excessive wrinkled skin	HP:0007392
2261	FGFR3	Intellectual disability	HP:0001249
2261	FGFR3	Seizures	HP:0001250
2261	FGFR3	Short stature	HP:0004322
2261	FGFR3	Neonatal death	HP:0003811
2261	FGFR3	Muscular hypotonia	HP:0001252
2261	FGFR3	Corneal perforation	HP:0100583
2261	FGFR3	Gray matter heterotopia	HP:0002282
2261	FGFR3	Hyperlordosis	HP:0003307
2261	FGFR3	Dysarthria	HP:0001260
2261	FGFR3	Short foot	HP:0001773
2261	FGFR3	Hydrocephalus	HP:0000238
2261	FGFR3	Global developmental delay	HP:0001263
2261	FGFR3	Metaphyseal chondrodysplasia	HP:0005871
2261	FGFR3	Abnormal form of the vertebral bodies	HP:0003312
2261	FGFR3	Infantile muscular hypotonia	HP:0008947
2261	FGFR3	Motor delay	HP:0001270
2261	FGFR3	Radial deviation of the 3rd finger	HP:0009462
2261	FGFR3	Abnormality of the cervical spine	HP:0003319
2261	FGFR3	Kyphosis	HP:0002808
2261	FGFR3	Brachycephaly	HP:0000248
2261	FGFR3	Radial deviation of finger	HP:0009466
2261	FGFR3	High myopia	HP:0011003
2261	FGFR3	Microcephaly	HP:0000252
2261	FGFR3	Pectus excavatum	HP:0000767
2261	FGFR3	Macrocephaly	HP:0000256
2261	FGFR3	Joint contracture of the hand	HP:0009473
2261	FGFR3	Wide anterior fontanel	HP:0000260
2261	FGFR3	Arnold-Chiari malformation	HP:0002308
2261	FGFR3	Abnormality of the ribs	HP:0000772
2261	FGFR3	Short ribs	HP:0000773
2261	FGFR3	Narrow chest	HP:0000774
2261	FGFR3	Turricephaly	HP:0000262
2261	FGFR3	Fibular bowing	HP:0010502
2261	FGFR3	Abnormality of femur morphology	HP:0002823
2261	FGFR3	Delayed cranial suture closure	HP:0000270
2261	FGFR3	Malar flattening	HP:0000272
2261	FGFR3	Broad femoral metaphyses	HP:0006417
2261	FGFR3	Small face	HP:0000274
2261	FGFR3	Hallux valgus	HP:0001822
2261	FGFR3	Epicanthus	HP:0000286
2261	FGFR3	Low anterior hairline	HP:0000294
2261	FGFR3	Intellectual disability, moderate	HP:0002342
2261	FGFR3	Sleep apnea	HP:0010535
2261	FGFR3	Short toe	HP:0001831
2261	FGFR3	Camptodactyly of toe	HP:0001836
2261	FGFR3	Enlarged cerebellum	HP:0012081
2261	FGFR3	Obstructive sleep apnea	HP:0002870
2261	FGFR3	Central apnea	HP:0002871
2261	FGFR3	Conical incisor	HP:0011065
2261	FGFR3	Hypertelorism	HP:0000316
2261	FGFR3	Facial asymmetry	HP:0000324
2261	FGFR3	Broad hallux	HP:0010055
2261	FGFR3	Hypoplasia of the maxilla	HP:0000327
2261	FGFR3	Uterine leiomyosarcoma	HP:0002891
2261	FGFR3	Megalencephaly	HP:0001355
2261	FGFR3	Plagiocephaly	HP:0001357
2261	FGFR3	Holoprosencephaly	HP:0001360
2261	FGFR3	Broad forehead	HP:0000337
2261	FGFR3	Cone-shaped epiphysis	HP:0010579
2261	FGFR3	Craniosynostosis	HP:0001363
2261	FGFR3	Bowing of the long bones	HP:0006487
2261	FGFR3	Coronal craniosynostosis	HP:0004440
2261	FGFR3	Spinal canal stenosis	HP:0003416
2261	FGFR3	High forehead	HP:0000348
2261	FGFR3	Limitation of joint mobility	HP:0001376
2261	FGFR3	Limited elbow extension	HP:0001377
2261	FGFR3	Microtia	HP:0008551
2261	FGFR3	Joint stiffness	HP:0001387
2261	FGFR3	Limbal stem cell deficiency	HP:0032107
2261	FGFR3	Hearing impairment	HP:0000365
2261	FGFR3	Low-set ears	HP:0000369
2261	FGFR3	Abnormality of the clavicle	HP:0000889
2261	FGFR3	Lumbar hyperlordosis	HP:0002938
2261	FGFR3	Cupped ear	HP:0000378
2261	FGFR3	External ear malformation	HP:0008572
2261	FGFR3	Clinodactyly	HP:0030084
2261	FGFR3	Otitis media	HP:0000388
2261	FGFR3	Chronic otitis media	HP:0000389
2261	FGFR3	Absent radius	HP:0003974
2261	FGFR3	Wide-cupped costochondral junctions	HP:0000910
2261	FGFR3	Abnormality of metabolism/homeostasis	HP:0001939
2261	FGFR3	Recurrent otitis media	HP:0000403
2261	FGFR3	Somatic mutation	HP:0001428
2261	FGFR3	Conductive hearing impairment	HP:0000405
2261	FGFR3	Sensorineural hearing impairment	HP:0000407
2261	FGFR3	Genu varum	HP:0002970
2261	FGFR3	Mixed hearing impairment	HP:0000410
2261	FGFR3	Diaphyseal thickening	HP:0005019
2261	FGFR3	Platyspondyly	HP:0000926
2261	FGFR3	Aplasia/Hypoplasia of the mandible	HP:0009118
2261	FGFR3	Choriocarcinoma	HP:0100768
2261	FGFR3	Preaxial polydactyly	HP:0100258
2261	FGFR3	Femoral bowing	HP:0002980
2261	FGFR3	Absent proximal phalanx of thumb	HP:0009637
2261	FGFR3	Tibial bowing	HP:0002982
2261	FGFR3	Micromelia	HP:0002983
2261	FGFR3	Hypoplasia of the radius	HP:0002984
2261	FGFR3	Prominent nasal bridge	HP:0000426
2261	FGFR3	Proximal radio-ulnar synostosis	HP:0005037
2261	FGFR3	Bilateral single transverse palmar creases	HP:0007598
2261	FGFR3	Abnormality of the metaphysis	HP:0000944
2261	FGFR3	Hypoplastic ilia	HP:0000946
2261	FGFR3	Severe short stature	HP:0003510
2261	FGFR3	Small abnormally formed scapulae	HP:0006584
2261	FGFR3	Acanthosis nigricans	HP:0000956
2261	FGFR3	Convex nasal ridge	HP:0000444
2261	FGFR3	Choanal atresia	HP:0000453
2261	FGFR3	Flared metaphysis	HP:0003015
2261	FGFR3	Hyperextensible skin	HP:0000974
2261	FGFR3	Hypoplasia of the ulna	HP:0003022
2261	FGFR3	Anteverted nares	HP:0000463
2261	FGFR3	Hyperhidrosis	HP:0000975
2261	FGFR3	Renal cell carcinoma	HP:0005584
2261	FGFR3	Brain stem compression	HP:0002512
2261	FGFR3	Metaphyseal irregularity	HP:0003025
2261	FGFR3	Short long bone	HP:0003026
2261	FGFR3	Mesomelia	HP:0003027
2261	FGFR3	Long thorax	HP:0100818
2261	FGFR3	Increased intracranial pressure	HP:0002516
2261	FGFR3	Severe platyspondyly	HP:0004565
2261	FGFR3	Finger syndactyly	HP:0006101
2261	FGFR3	Frontal bossing	HP:0002007
2261	FGFR3	Abnormality of cardiovascular system morphology	HP:0030680
2261	FGFR3	Increased vertebral height	HP:0004570
2261	FGFR3	Trident hand	HP:0004060
2261	FGFR3	Hypopigmentation of hair	HP:0005599
2261	FGFR3	Elbow dislocation	HP:0003042
2261	FGFR3	Melanocytic nevus	HP:0000995
2261	FGFR3	Gastroesophageal reflux	HP:0002020
2261	FGFR3	Metacarpal synostosis	HP:0009701
2261	FGFR3	Strabismus	HP:0000486
2261	FGFR3	Carpal synostosis	HP:0009702
2261	FGFR3	Intrauterine growth retardation	HP:0001511
2261	FGFR3	Lacrimal gland aplasia	HP:0007656
2261	FGFR3	Obesity	HP:0001513
2261	FGFR3	Downslanted palpebral fissures	HP:0000494
2261	FGFR3	Recurrent corneal erosions	HP:0000495
2261	FGFR3	Death in infancy	HP:0001522
2261	FGFR3	Abnormal sacrum morphology	HP:0005107
2261	FGFR3	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
2261	FGFR3	Visual impairment	HP:0000505
2261	FGFR3	Telecanthus	HP:0000506
2261	FGFR3	Ptosis	HP:0000508
2263	FGFR2	Umbilical hernia	HP:0001537
2263	FGFR2	Autosomal dominant inheritance	HP:0000006
2263	FGFR2	Intestinal malrotation	HP:0002566
2263	FGFR2	Autosomal recessive inheritance	HP:0000007
2263	FGFR2	Proptosis	HP:0000520
2263	FGFR2	Anteriorly placed anus	HP:0001545
2263	FGFR2	Alacrima	HP:0000522
2263	FGFR2	Abnormality of the antihelix	HP:0009738
2263	FGFR2	Aplasia of the parotid gland	HP:0009740
2263	FGFR2	Nephrosclerosis	HP:0009741
2263	FGFR2	Midface retrusion	HP:0011800
2263	FGFR2	Cervical C5/C6 vertebrae fusion	HP:0004635
2263	FGFR2	Cryptorchidism	HP:0000028
2263	FGFR2	Migraine	HP:0002076
2263	FGFR2	Hypopigmented skin patches	HP:0001053
2263	FGFR2	Acne	HP:0001061
2263	FGFR2	Coronal hypospadias	HP:0008743
2263	FGFR2	Broad thumb	HP:0011304
2263	FGFR2	Respiratory insufficiency	HP:0002093
2263	FGFR2	Symphalangism affecting the phalanges of the hand	HP:0009773
2263	FGFR2	Buphthalmos	HP:0000557
2263	FGFR2	Bifid scrotum	HP:0000048
2263	FGFR2	Respiratory distress	HP:0002098
2263	FGFR2	Lacrimal gland hypoplasia	HP:0007732
2263	FGFR2	Bicoronal synostosis	HP:0011318
2263	FGFR2	Open bite	HP:0010807
2263	FGFR2	Bell-shaped thorax	HP:0001591
2263	FGFR2	Hypoplastic labia majora	HP:0000059
2263	FGFR2	Cleft of chin	HP:0011323
2263	FGFR2	Multiple suture craniosynostosis	HP:0011324
2263	FGFR2	Visual loss	HP:0000572
2263	FGFR2	Abnormality of the nail	HP:0001597
2263	FGFR2	Overriding aorta	HP:0002623
2263	FGFR2	Fused labia minora	HP:0000063
2263	FGFR2	Laryngomalacia	HP:0001601
2263	FGFR2	Abnormally large globe	HP:0001090
2263	FGFR2	Nasolacrimal duct obstruction	HP:0000579
2263	FGFR2	Absent lacrimal punctum	HP:0001092
2263	FGFR2	Upslanted palpebral fissure	HP:0000582
2263	FGFR2	Ventriculomegaly	HP:0002119
2263	FGFR2	Shallow orbits	HP:0000586
2263	FGFR2	Bilateral triphalangeal thumbs	HP:0005707
2263	FGFR2	Vesicoureteral reflux	HP:0000076
2263	FGFR2	Reduced number of teeth	HP:0009804
2263	FGFR2	Flat face	HP:0012368
2263	FGFR2	2-3 toe syndactyly	HP:0004691
2263	FGFR2	Abnormality of pelvic girdle bone morphology	HP:0002644
2263	FGFR2	Horseshoe kidney	HP:0000085
2263	FGFR2	Hypotelorism	HP:0000601
2263	FGFR2	Scoliosis	HP:0002650
2263	FGFR2	Abnormal heart morphology	HP:0001627
2263	FGFR2	Ventricular septal defect	HP:0001629
2263	FGFR2	Atrial septal defect	HP:0001631
2263	FGFR2	Camptodactyly	HP:0012385
2263	FGFR2	Iris coloboma	HP:0000612
2263	FGFR2	Abnormal nasolacrimal system morphology	HP:0000614
2263	FGFR2	Hypoplastic ischia	HP:0003175
2263	FGFR2	Renal agenesis	HP:0000104
2263	FGFR2	Dacryocystitis	HP:0000620
2263	FGFR2	Clinodactyly of the 5th finger	HP:0004209
2263	FGFR2	Cloverleaf skull	HP:0002676
2263	FGFR2	Morphological abnormality of the semicircular canal	HP:0011380
2263	FGFR2	Periorbital fullness	HP:0000629
2263	FGFR2	Long nose	HP:0003189
2263	FGFR2	Skull asymmetry	HP:0002678
2263	FGFR2	Narrow internal auditory canal	HP:0011386
2263	FGFR2	Posterior fossa cyst	HP:0007291
2263	FGFR2	Short nose	HP:0003196
2263	FGFR2	Hydronephrosis	HP:0000126
2263	FGFR2	Blepharospasm	HP:0000643
2263	FGFR2	Brachydactyly	HP:0001156
2263	FGFR2	Amblyopia	HP:0000646
2263	FGFR2	Optic atrophy	HP:0000648
2263	FGFR2	Parietal foramina	HP:0002697
2263	FGFR2	Postaxial hand polydactyly	HP:0001162
2263	FGFR2	Camptodactyly of finger	HP:0100490
2263	FGFR2	Arachnodactyly	HP:0001166
2263	FGFR2	Vaginal atresia	HP:0000148
2263	FGFR2	Preaxial hand polydactyly	HP:0001177
2263	FGFR2	Hypoplasia of dental enamel	HP:0006297
2263	FGFR2	Hypodontia	HP:0000668
2263	FGFR2	Carious teeth	HP:0000670
2263	FGFR2	Depressed nasal bridge	HP:0005280
2263	FGFR2	Narrow mouth	HP:0000160
2263	FGFR2	Underdeveloped supraorbital ridges	HP:0009891
2263	FGFR2	Dental crowding	HP:0000678
2263	FGFR2	Delayed eruption of primary teeth	HP:0000680
2263	FGFR2	Feeding difficulties in infancy	HP:0008872
2263	FGFR2	Prominent crus of helix	HP:0009899
2263	FGFR2	Delayed eruption of teeth	HP:0000684
2263	FGFR2	Prominent scrotal raphe	HP:0003246
2263	FGFR2	Abnormal palate morphology	HP:0000174
2263	FGFR2	Abnormal morphology of the limbic system	HP:0007343
2263	FGFR2	Cleft palate	HP:0000175
2263	FGFR2	Triphalangeal thumb	HP:0001199
2263	FGFR2	Dental malocclusion	HP:0000689
2263	FGFR2	Aplasia/Hypoplasia of the earlobes	HP:0009906
2263	FGFR2	Natal tooth	HP:0000695
2263	FGFR2	Short palm	HP:0004279
2263	FGFR2	Narrow palate	HP:0000189
2263	FGFR2	Bifid uvula	HP:0000193
2263	FGFR2	Abnormality of the pancreas	HP:0001732
2263	FGFR2	Recurrent fractures	HP:0002757
2263	FGFR2	Absence of Stensen duct	HP:0000198
2263	FGFR2	Abnormality of the nasopharynx	HP:0001739
2263	FGFR2	Narrow pelvis bone	HP:0003275
2263	FGFR2	2-3 finger syndactyly	HP:0001233
2263	FGFR2	Short middle phalanx of toe	HP:0003795
2263	FGFR2	Gingival overgrowth	HP:0000212
2263	FGFR2	Hypoplasia of the lacrimal punctum	HP:0007892
2263	FGFR2	Steep acetabular roof	HP:0010455
2263	FGFR2	Partial duplication of thumb phalanx	HP:0009944
2263	FGFR2	Xerostomia	HP:0000217
2263	FGFR2	High palate	HP:0000218
2263	FGFR2	Tracheomalacia	HP:0002779
2263	FGFR2	Bronchomalacia	HP:0002780
2263	FGFR2	Hypoplastic lacrimal duct	HP:0007900
2263	FGFR2	Small thenar eminence	HP:0001245
2263	FGFR2	Upper airway obstruction	HP:0002781
2263	FGFR2	Partial duplication of the distal phalanx of the 2nd finger	HP:0009951
2263	FGFR2	Intellectual disability	HP:0001249
2263	FGFR2	Seizures	HP:0001250
2263	FGFR2	Short stature	HP:0004322
2263	FGFR2	Cartilaginous trachea	HP:0005347
2263	FGFR2	Abnormality of the periosteum	HP:0040166
2263	FGFR2	Corneal perforation	HP:0100583
2263	FGFR2	Intellectual disability, mild	HP:0001256
2263	FGFR2	Toe syndactyly	HP:0001770
2263	FGFR2	Hyperlordosis	HP:0003307
2263	FGFR2	Short foot	HP:0001773
2263	FGFR2	Hydrocephalus	HP:0000238
2263	FGFR2	Large fontanelles	HP:0000239
2263	FGFR2	Global developmental delay	HP:0001263
2263	FGFR2	Abnormal form of the vertebral bodies	HP:0003312
2263	FGFR2	Partial duplication of the distal phalanx of the 3rd finger	HP:0009968
2263	FGFR2	Trigonocephaly	HP:0000243
2263	FGFR2	Brachyturricephaly	HP:0000244
2263	FGFR2	Variable expressivity	HP:0003828
2263	FGFR2	Radial deviation of the 3rd finger	HP:0009462
2263	FGFR2	Broad metatarsal	HP:0001783
2263	FGFR2	Abnormality of the cervical spine	HP:0003319
2263	FGFR2	Brachycephaly	HP:0000248
2263	FGFR2	Agenesis of corpus callosum	HP:0001274
2263	FGFR2	Macrocephaly	HP:0000256
2263	FGFR2	Small nail	HP:0001792
2263	FGFR2	Arnold-Chiari malformation	HP:0002308
2263	FGFR2	Abnormality of the ribs	HP:0000772
2263	FGFR2	Wide anterior fontanel	HP:0000260
2263	FGFR2	Turricephaly	HP:0000262
2263	FGFR2	Narrow chest	HP:0000774
2263	FGFR2	Ovarian neoplasm	HP:0100615
2263	FGFR2	Oxycephaly	HP:0000263
2263	FGFR2	Headache	HP:0002315
2263	FGFR2	Dolichocephaly	HP:0000268
2263	FGFR2	Dysgerminoma	HP:0100621
2263	FGFR2	Delayed cranial suture closure	HP:0000270
2263	FGFR2	Malar flattening	HP:0000272
2263	FGFR2	Hallux valgus	HP:0001822
2263	FGFR2	Epicanthus	HP:0000286
2263	FGFR2	Low anterior hairline	HP:0000294
2263	FGFR2	Intellectual disability, moderate	HP:0002342
2263	FGFR2	Sleep apnea	HP:0010535
2263	FGFR2	Cerebellar hypoplasia	HP:0001321
2263	FGFR2	Ectopic anus	HP:0004397
2263	FGFR2	Palmoplantar cutis gyrata	HP:0007469
2263	FGFR2	Rocker bottom foot	HP:0001838
2263	FGFR2	Mandibular prognathia	HP:0000303
2263	FGFR2	Split foot	HP:0001839
2263	FGFR2	Preaxial foot polydactyly	HP:0001841
2263	FGFR2	Absent septum pellucidum	HP:0001331
2263	FGFR2	Hypertension	HP:0000822
2263	FGFR2	Conical incisor	HP:0011065
2263	FGFR2	Cutaneous finger syndactyly	HP:0010554
2263	FGFR2	Hypertelorism	HP:0000316
2263	FGFR2	Facial asymmetry	HP:0000324
2263	FGFR2	Broad hallux	HP:0010055
2263	FGFR2	Hypoplasia of the maxilla	HP:0000327
2263	FGFR2	Flat forehead	HP:0004425
2263	FGFR2	Broad hallux phalanx	HP:0010059
2263	FGFR2	Megalencephaly	HP:0001355
2263	FGFR2	Plagiocephaly	HP:0001357
2263	FGFR2	Broad forehead	HP:0000337
2263	FGFR2	Craniosynostosis	HP:0001363
2263	FGFR2	Craniofacial dysostosis	HP:0004439
2263	FGFR2	Long philtrum	HP:0000343
2263	FGFR2	Corneal erosion	HP:0200020
2263	FGFR2	Coronal craniosynostosis	HP:0004440
2263	FGFR2	Sagittal craniosynostosis	HP:0004442
2263	FGFR2	Incomplete ossification of pubis	HP:0030042
2263	FGFR2	Lambdoidal craniosynostosis	HP:0004443
2263	FGFR2	Micrognathia	HP:0000347
2263	FGFR2	Talipes	HP:0001883
2263	FGFR2	Flexion contracture	HP:0001371
2263	FGFR2	High forehead	HP:0000348
2263	FGFR2	Palmoplantar cutis laxa	HP:0007517
2263	FGFR2	Stomach cancer	HP:0012126
2263	FGFR2	Arachnoid cyst	HP:0100702
2263	FGFR2	Limitation of joint mobility	HP:0001376
2263	FGFR2	Limited elbow extension	HP:0001377
2263	FGFR2	Decreased calvarial ossification	HP:0005474
2263	FGFR2	Preauricular skin furrow	HP:0004450
2263	FGFR2	Overfolding of the superior helices	HP:0004453
2263	FGFR2	Microtia	HP:0008551
2263	FGFR2	Aqueductal stenosis	HP:0002410
2263	FGFR2	Joint stiffness	HP:0001387
2263	FGFR2	Limbal stem cell deficiency	HP:0032107
2263	FGFR2	Hearing abnormality	HP:0000364
2263	FGFR2	Hearing impairment	HP:0000365
2263	FGFR2	Low-set, posteriorly rotated ears	HP:0000368
2263	FGFR2	Low-set ears	HP:0000369
2263	FGFR2	Skin tags	HP:0010609
2263	FGFR2	Anomalous tracheal cartilage	HP:0004468
2263	FGFR2	Small hand	HP:0200055
2263	FGFR2	Absent first metatarsal	HP:0010104
2263	FGFR2	Abnormality of the pinna	HP:0000377
2263	FGFR2	Cupped ear	HP:0000378
2263	FGFR2	External ear malformation	HP:0008572
2263	FGFR2	Short hallux	HP:0010109
2263	FGFR2	Short clavicles	HP:0000894
2263	FGFR2	Aplasia/Hypoplasia of the thumb	HP:0009601
2263	FGFR2	Deviation of the thumb	HP:0009603
2263	FGFR2	Chronic otitis media	HP:0000389
2263	FGFR2	Absent radius	HP:0003974
2263	FGFR2	Acrobrachycephaly	HP:0004487
2263	FGFR2	Thickened helices	HP:0000391
2263	FGFR2	Hallux varus	HP:0008080
2263	FGFR2	Macrotia	HP:0000400
2263	FGFR2	Stenosis of the external auditory canal	HP:0000402
2263	FGFR2	Somatic mutation	HP:0001428
2263	FGFR2	Conductive hearing impairment	HP:0000405
2263	FGFR2	Sensorineural hearing impairment	HP:0000407
2263	FGFR2	Visceral angiomatosis	HP:0100761
2263	FGFR2	Hepatosplenomegaly	HP:0001433
2263	FGFR2	Mixed hearing impairment	HP:0000410
2263	FGFR2	Atresia of the external auditory canal	HP:0000413
2263	FGFR2	Radioulnar synostosis	HP:0002974
2263	FGFR2	Bowing of the legs	HP:0002979
2263	FGFR2	Preaxial polydactyly	HP:0100258
2263	FGFR2	Femoral bowing	HP:0002980
2263	FGFR2	Absent proximal phalanx of thumb	HP:0009637
2263	FGFR2	Micromelia	HP:0002983
2263	FGFR2	Hypoplasia of the radius	HP:0002984
2263	FGFR2	Broad distal phalanx of the thumb	HP:0009642
2263	FGFR2	Osteopenia	HP:0000938
2263	FGFR2	Prominent nasal bridge	HP:0000426
2263	FGFR2	Hypoplasia of the zygomatic bone	HP:0010669
2263	FGFR2	Proximal radio-ulnar synostosis	HP:0005037
2263	FGFR2	Bilateral single transverse palmar creases	HP:0007598
2263	FGFR2	Broad distal hallux	HP:0008111
2263	FGFR2	Abnormality of fibula morphology	HP:0002991
2263	FGFR2	Abnormal renal morphology	HP:0012210
2263	FGFR2	Synostosis of carpal bones	HP:0005048
2263	FGFR2	Calcaneonavicular fusion	HP:0008122
2263	FGFR2	Extramedullary hematopoiesis	HP:0001978
2263	FGFR2	Breast carcinoma	HP:0003002
2263	FGFR2	Arnold-Chiari type I malformation	HP:0007099
2263	FGFR2	Acanthosis nigricans	HP:0000956
2263	FGFR2	Convex nasal ridge	HP:0000444
2263	FGFR2	Choanal stenosis	HP:0000452
2263	FGFR2	Choanal atresia	HP:0000453
2263	FGFR2	Subcutaneous nodule	HP:0001482
2263	FGFR2	Narrow nose	HP:0000460
2263	FGFR2	Hyperextensible skin	HP:0000974
2263	FGFR2	Hypoplasia of the ulna	HP:0003022
2263	FGFR2	Abnormal facial shape	HP:0001999
2263	FGFR2	Anteverted nares	HP:0000463
2263	FGFR2	Increased intracranial pressure	HP:0002516
2263	FGFR2	Increased level of L-fucose in urine	HP:0410067
2263	FGFR2	Finger syndactyly	HP:0006101
2263	FGFR2	Palmoplantar keratoderma	HP:0000982
2263	FGFR2	Frontal bossing	HP:0002007
2263	FGFR2	Metopic depression	HP:0011223
2263	FGFR2	Ulnar bowing	HP:0003031
2263	FGFR2	Abnormality of cardiovascular system morphology	HP:0030680
2263	FGFR2	Clitoral hypertrophy	HP:0008665
2263	FGFR2	Congenital stationary night blindness	HP:0007642
2263	FGFR2	Shortening of all middle phalanges of the fingers	HP:0006110
2263	FGFR2	Humeroradial synostosis	HP:0003041
2263	FGFR2	Melanocytic nevus	HP:0000995
2263	FGFR2	Growth abnormality	HP:0001507
2263	FGFR2	Pyloric stenosis	HP:0002021
2263	FGFR2	Megalocornea	HP:0000485
2263	FGFR2	Strabismus	HP:0000486
2263	FGFR2	Anal atresia	HP:0002023
2263	FGFR2	Lacrimal gland aplasia	HP:0007656
2263	FGFR2	Keratitis	HP:0000491
2263	FGFR2	Downslanted palpebral fissures	HP:0000494
2263	FGFR2	Hirsutism	HP:0001007
2263	FGFR2	Recurrent corneal erosions	HP:0000495
2263	FGFR2	Esophageal atresia	HP:0002032
2263	FGFR2	Abnormal sacrum morphology	HP:0005107
2263	FGFR2	Short metatarsal	HP:0010743
2263	FGFR2	Abnormality of vision	HP:0000504
2263	FGFR2	Visual impairment	HP:0000505
2263	FGFR2	Telecanthus	HP:0000506
2263	FGFR2	Ptosis	HP:0000508
2263	FGFR2	Conjunctivitis	HP:0000509
2263	FGFR2	Elbow ankylosis	HP:0003070
10456	HAX1	Seizures	HP:0001250
10456	HAX1	Neutropenia	HP:0001875
10456	HAX1	Leukemia	HP:0001909
10456	HAX1	Autosomal recessive inheritance	HP:0000007
10456	HAX1	Infantile onset	HP:0003593
10456	HAX1	Psychomotor retardation	HP:0025356
10456	HAX1	Recurrent bacterial infections	HP:0002718
10456	HAX1	Global developmental delay	HP:0001263
10456	HAX1	Myelodysplasia	HP:0002863
10457	GPNMB	Hypermelanotic macule	HP:0001034
10457	GPNMB	Pruritus	HP:0000989
10457	GPNMB	Dry skin	HP:0000958
2266	FGG	Gingival bleeding	HP:0000225
2266	FGG	Abnormal bleeding	HP:0001892
2266	FGG	Spontaneous abortion	HP:0005268
2266	FGG	Epistaxis	HP:0000421
2266	FGG	Autosomal recessive inheritance	HP:0000007
2266	FGG	Venous thrombosis	HP:0004936
2266	FGG	Joint swelling	HP:0001386
2266	FGG	Hypofibrinogenemia	HP:0011900
2266	FGG	Cerebral hemorrhage	HP:0001342
2266	FGG	Menometrorrhagia	HP:0400008
2266	FGG	Splenic rupture	HP:0012223
2266	FGG	Gastrointestinal hemorrhage	HP:0002239
10459	MAD2L2	Umbilical hernia	HP:0001537
10459	MAD2L2	Duodenal stenosis	HP:0100867
10459	MAD2L2	Cataract	HP:0000518
10459	MAD2L2	Hypogonadism	HP:0000135
10459	MAD2L2	Abnormality of femur morphology	HP:0002823
10459	MAD2L2	Autosomal recessive inheritance	HP:0000007
10459	MAD2L2	Proptosis	HP:0000520
10459	MAD2L2	Decreased fertility in males	HP:0012041
10459	MAD2L2	Recurrent urinary tract infections	HP:0000010
10459	MAD2L2	Hip dislocation	HP:0002827
10459	MAD2L2	Dolichocephaly	HP:0000268
10459	MAD2L2	Multiple cafe-au-lait spots	HP:0007565
10459	MAD2L2	Tracheoesophageal fistula	HP:0002575
10459	MAD2L2	Abnormal aortic morphology	HP:0001679
10459	MAD2L2	Pyridoxine-responsive sideroblastic anemia	HP:0005522
10459	MAD2L2	Abnormality of chromosome stability	HP:0003220
10459	MAD2L2	Bone marrow hypocellularity	HP:0005528
10459	MAD2L2	Clubbing of toes	HP:0100760
10459	MAD2L2	Oligohydramnios	HP:0001562
10459	MAD2L2	Azoospermia	HP:0000027
10459	MAD2L2	Cryptorchidism	HP:0000028
10459	MAD2L2	Hypopigmented skin patches	HP:0001053
10459	MAD2L2	Epicanthus	HP:0000286
10459	MAD2L2	Weight loss	HP:0001824
10459	MAD2L2	Cranial nerve paralysis	HP:0006824
10459	MAD2L2	Bicornuate uterus	HP:0000813
10459	MAD2L2	Myelodysplasia	HP:0002863
10459	MAD2L2	Cleft palate	HP:0000175
10459	MAD2L2	Triphalangeal thumb	HP:0001199
10459	MAD2L2	Hypospadias	HP:0000047
10459	MAD2L2	Aplasia/Hypoplasia of the uvula	HP:0010293
10459	MAD2L2	Microphthalmia	HP:0000568
10459	MAD2L2	Arteriovenous malformation	HP:0100026
10459	MAD2L2	Hypertelorism	HP:0000316
10459	MAD2L2	Abnormal localization of kidney	HP:0100542
10459	MAD2L2	Almond-shaped palpebral fissure	HP:0007874
10459	MAD2L2	Hyperreflexia	HP:0001347
10459	MAD2L2	Facial asymmetry	HP:0000324
10459	MAD2L2	Meckel diverticulum	HP:0002245
10459	MAD2L2	Choanal atresia	HP:0000453
10459	MAD2L2	Upslanted palpebral fissure	HP:0000582
10459	MAD2L2	Ventriculomegaly	HP:0002119
10459	MAD2L2	Hydroureter	HP:0000072
10459	MAD2L2	Short palpebral fissure	HP:0012745
10459	MAD2L2	Aganglionic megacolon	HP:0002251
10459	MAD2L2	Hypoplasia of the ulna	HP:0003022
10459	MAD2L2	Thrombocytopenia	HP:0001873
10459	MAD2L2	Renal insufficiency	HP:0000083
10459	MAD2L2	Neutropenia	HP:0001875
10459	MAD2L2	Sloping forehead	HP:0000340
10459	MAD2L2	Finger syndactyly	HP:0006101
10459	MAD2L2	Frontal bossing	HP:0002007
10459	MAD2L2	Scoliosis	HP:0002650
10459	MAD2L2	Leukopenia	HP:0001882
10459	MAD2L2	High palate	HP:0000218
10459	MAD2L2	Micrognathia	HP:0000347
10459	MAD2L2	Atrial septal defect	HP:0001631
10459	MAD2L2	Abnormal carotid artery morphology	HP:0005344
10459	MAD2L2	Abnormality of the hypothalamus-pituitary axis	HP:0000864
10459	MAD2L2	Intellectual disability	HP:0001249
10459	MAD2L2	Short stature	HP:0004322
10459	MAD2L2	Pes planus	HP:0001763
10459	MAD2L2	Astigmatism	HP:0000483
10459	MAD2L2	Tetralogy of Fallot	HP:0001636
10459	MAD2L2	Absent testis	HP:0010469
10459	MAD2L2	Aplasia/Hypoplasia of the radius	HP:0006501
10459	MAD2L2	Renal hypoplasia/aplasia	HP:0008678
10459	MAD2L2	Strabismus	HP:0000486
10459	MAD2L2	Anal atresia	HP:0002023
10459	MAD2L2	Intrauterine growth retardation	HP:0001511
10459	MAD2L2	Hypertrophic cardiomyopathy	HP:0001639
10459	MAD2L2	Irregular hyperpigmentation	HP:0007400
10459	MAD2L2	Toe syndactyly	HP:0001770
10459	MAD2L2	Abnormality of the preputium	HP:0100587
10459	MAD2L2	Patent ductus arteriosus	HP:0001643
10459	MAD2L2	Hearing impairment	HP:0000365
10459	MAD2L2	Abnormal aortic valve morphology	HP:0001646
10459	MAD2L2	Spina bifida	HP:0002414
10459	MAD2L2	Hydrocephalus	HP:0000238
10459	MAD2L2	Elevated alpha-fetoprotein	HP:0006254
10459	MAD2L2	Global developmental delay	HP:0001263
10459	MAD2L2	Anemia	HP:0001903
10459	MAD2L2	Abnormality of the liver	HP:0001392
10459	MAD2L2	Clinodactyly of the 5th finger	HP:0004209
10459	MAD2L2	Aplasia/Hypoplasia of the iris	HP:0008053
10459	MAD2L2	Visual impairment	HP:0000505
10459	MAD2L2	Aplasia/Hypoplasia of fingers	HP:0006265
10459	MAD2L2	Microcephaly	HP:0000252
10459	MAD2L2	Ptosis	HP:0000508
10459	MAD2L2	External ear malformation	HP:0008572
10459	MAD2L2	Reduced bone mineral density	HP:0004349
10459	MAD2L2	Nystagmus	HP:0000639
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	Profound hearing impairment	HP:0012715
84189	SLITRK6	High myopia	HP:0011003
84189	SLITRK6	Proteinuria	HP:0000093
84188	FAR1	Intellectual disability	HP:0001249
84188	FAR1	Seizures	HP:0001250
84188	FAR1	Growth delay	HP:0001510
84188	FAR1	Cataract	HP:0000518
84188	FAR1	Autosomal recessive inheritance	HP:0000007
84188	FAR1	Spasticity	HP:0001257
84188	FAR1	Generalized hypotonia	HP:0001290
84188	FAR1	Global developmental delay	HP:0001263
84188	FAR1	Macrotia	HP:0000400
84188	FAR1	Long philtrum	HP:0000343
84188	FAR1	Cerebellar atrophy	HP:0001272
84188	FAR1	Coarse facial features	HP:0000280
84188	FAR1	Highly arched eyebrow	HP:0002553
84188	FAR1	Thin upper lip vermilion	HP:0000219
84188	FAR1	Microcephaly	HP:0000252
10461	MERTK	Abnormal electroretinogram	HP:0000512
10461	MERTK	Hyperreflexia	HP:0001347
10461	MERTK	Peripheral retinal atrophy	HP:0200070
10461	MERTK	Cataract	HP:0000518
10461	MERTK	Hypogonadism	HP:0000135
10461	MERTK	Autosomal recessive inheritance	HP:0000007
10461	MERTK	Optic atrophy	HP:0000648
10461	MERTK	Hyperinsulinemia	HP:0000842
10461	MERTK	Anteverted nares	HP:0000463
10461	MERTK	Progressive visual loss	HP:0000529
10461	MERTK	Conductive hearing impairment	HP:0000405
10461	MERTK	Nyctalopia	HP:0000662
10461	MERTK	Sensorineural hearing impairment	HP:0000407
10461	MERTK	Abnormality of retinal pigmentation	HP:0007703
10461	MERTK	Ophthalmoplegia	HP:0000602
10461	MERTK	Type II diabetes mellitus	HP:0005978
10461	MERTK	Atypical scarring of skin	HP:0000987
10461	MERTK	Optic disc pallor	HP:0000543
10461	MERTK	Hypoplasia of penis	HP:0008736
10461	MERTK	Intellectual disability	HP:0001249
10461	MERTK	Abnormal testis morphology	HP:0000035
10461	MERTK	Photophobia	HP:0000613
10461	MERTK	Obesity	HP:0001513
10461	MERTK	Macular atrophy	HP:0007401
10461	MERTK	Blindness	HP:0000618
10461	MERTK	Abnormal retinal vascular morphology	HP:0008046
10461	MERTK	Wide nasal bridge	HP:0000431
10461	MERTK	Keratoconus	HP:0000563
10461	MERTK	Glaucoma	HP:0000501
10461	MERTK	Progressive night blindness	HP:0007675
10461	MERTK	Rod-cone dystrophy	HP:0000510
10461	MERTK	Nystagmus	HP:0000639
51422	PRKAG2	Left bundle branch block	HP:0011713
51422	PRKAG2	Cyanosis	HP:0000961
51422	PRKAG2	Biventricular hypertrophy	HP:0200128
51422	PRKAG2	Ascites	HP:0001541
51422	PRKAG2	Autosomal dominant inheritance	HP:0000006
51422	PRKAG2	Asymmetric septal hypertrophy	HP:0001670
51422	PRKAG2	Autosomal recessive inheritance	HP:0000007
51422	PRKAG2	Atrioventricular block	HP:0001678
51422	PRKAG2	Neonatal hypoglycemia	HP:0001998
51422	PRKAG2	Abnormal facial shape	HP:0001999
51422	PRKAG2	Heterogeneous	HP:0001425
51422	PRKAG2	Stroke	HP:0001297
51422	PRKAG2	Ventricular preexcitation	HP:0004309
51422	PRKAG2	Prolonged QRS complex	HP:0006677
51422	PRKAG2	Paroxysmal atrial fibrillation	HP:0004757
51422	PRKAG2	Myofiber disarray	HP:0031318
51422	PRKAG2	Sinus bradycardia	HP:0001688
51422	PRKAG2	Paroxysmal supraventricular tachycardia	HP:0004763
51422	PRKAG2	Ventricular preexcitation with multiple accessory pathways	HP:0006684
51422	PRKAG2	Macroglossia	HP:0000158
51422	PRKAG2	Seizures	HP:0001250
51422	PRKAG2	Congestive heart failure	HP:0001635
51422	PRKAG2	Cardiomyopathy	HP:0001638
51422	PRKAG2	Hypertrophic cardiomyopathy	HP:0001639
51422	PRKAG2	Cardiomegaly	HP:0001640
51422	PRKAG2	Palpitations	HP:0001962
51422	PRKAG2	Shortened PR interval	HP:0005165
51422	PRKAG2	Sudden cardiac death	HP:0001645
51422	PRKAG2	Wolff-Parkinson-White syndrome	HP:0001716
51422	PRKAG2	Atrial fibrillation	HP:0005110
51422	PRKAG2	Pulmonary edema	HP:0100598
51422	PRKAG2	Hypotension	HP:0002615
51422	PRKAG2	Bradycardia	HP:0001662
51422	PRKAG2	Myopathy	HP:0003198
2271	FH	Hypercalcemia	HP:0003072
2271	FH	Relative macrocephaly	HP:0004482
2271	FH	Uterine leiomyoma	HP:0000131
2271	FH	Cataract	HP:0000518
2271	FH	Autosomal dominant inheritance	HP:0000006
2271	FH	Autosomal recessive inheritance	HP:0000007
2271	FH	Optic atrophy	HP:0000648
2271	FH	Generalized hypotonia	HP:0001290
2271	FH	Intellectual disability, profound	HP:0002187
2271	FH	Cerebral atrophy	HP:0002059
2271	FH	Chest pain	HP:0100749
2271	FH	Multiple cutaneous leiomyomas	HP:0007437
2271	FH	Cranial nerve compression	HP:0001293
2271	FH	Choroid plexus cyst	HP:0002190
2271	FH	Aniridia	HP:0000526
2271	FH	Episodic abdominal pain	HP:0002574
2271	FH	Elevated urinary norepinephrine	HP:0003345
2271	FH	Conductive hearing impairment	HP:0000405
2271	FH	Metabolic acidosis	HP:0001942
2271	FH	Hematuria	HP:0000790
2271	FH	Aminoaciduria	HP:0003355
2271	FH	Recurrent paroxysmal headache	HP:0002331
2271	FH	Depressed nasal bridge	HP:0005280
2271	FH	Weight loss	HP:0001824
2271	FH	Paroxysmal vertigo	HP:0010532
2271	FH	Palpitations	HP:0001962
2271	FH	Vaginal neoplasm	HP:0100650
2271	FH	Episodic hyperhidrosis	HP:0001069
2271	FH	Reduced subcutaneous adipose tissue	HP:0003758
2271	FH	Paraganglioma of head and neck	HP:0002864
2271	FH	Flushing	HP:0031284
2271	FH	Panic attack	HP:0025269
2271	FH	Pulsatile tinnitus	HP:0008629
2271	FH	Sinus tachycardia	HP:0011703
2271	FH	Elevated urinary epinephrine	HP:0003639
2271	FH	Lactic acidosis	HP:0003128
2271	FH	Tremor	HP:0001337
2271	FH	Hypertelorism	HP:0000316
2271	FH	Hypoplasia of the brainstem	HP:0002365
2271	FH	Cerebral hemorrhage	HP:0001342
2271	FH	Arachnoid hemangiomatosis	HP:0012222
2271	FH	Abnormality of the musculature	HP:0003011
2271	FH	Cutaneous leiomyoma	HP:0007620
2271	FH	Vocal cord paralysis	HP:0001605
2271	FH	Hypertensive retinopathy	HP:0001095
2271	FH	Elevated calcitonin	HP:0003528
2271	FH	Uterine leiomyosarcoma	HP:0002891
2271	FH	Elevated urinary dopamine	HP:0011979
2271	FH	Papillary renal cell carcinoma type 2	HP:0006732
2271	FH	Polymicrogyria	HP:0002126
2271	FH	Anteverted nares	HP:0000463
2271	FH	Renal cell carcinoma	HP:0005584
2271	FH	Decreased fumarate hydratase activity	HP:0003536
2271	FH	Extraadrenal pheochromocytoma	HP:0006737
2271	FH	Dysphonia	HP:0001618
2271	FH	Pallor	HP:0000980
2271	FH	Status epilepticus	HP:0002133
2271	FH	Frontal bossing	HP:0002007
2271	FH	Hyperbilirubinemia	HP:0002904
2271	FH	High palate	HP:0000218
2271	FH	Fatigue	HP:0012378
2271	FH	Open operculum	HP:0100954
2271	FH	Adrenal pheochromocytoma	HP:0006748
2271	FH	Pruritus	HP:0000989
2271	FH	Proteinuria	HP:0000093
2271	FH	Glomerulosclerosis	HP:0000096
2271	FH	Nausea	HP:0002018
2271	FH	Congestive heart failure	HP:0001635
2271	FH	Cutaneous leiomyosarcoma	HP:0006755
2271	FH	Muscular hypotonia	HP:0001252
2271	FH	Failure to thrive	HP:0001508
2271	FH	Episodic paroxysmal anxiety	HP:0000740
2271	FH	Barrett esophagus	HP:0100580
2271	FH	Polycythemia	HP:0001901
2271	FH	Global developmental delay	HP:0001263
2271	FH	Retinal capillary hemangioma	HP:0009711
2271	FH	Cholestasis	HP:0001396
2271	FH	Incomplete penetrance	HP:0003829
2271	FH	Positive regitine blocking test	HP:0003574
2271	FH	Hepatic failure	HP:0001399
2271	FH	Neurological speech impairment	HP:0002167
2271	FH	Visual impairment	HP:0000505
2271	FH	Agenesis of corpus callosum	HP:0001274
2271	FH	Microcephaly	HP:0000252
10463	SLC30A9	Loss of speech	HP:0002371
10463	SLC30A9	Ataxia	HP:0001251
10463	SLC30A9	Muscular hypotonia of the trunk	HP:0008936
10463	SLC30A9	Developmental regression	HP:0002376
10463	SLC30A9	Limb hypertonia	HP:0002509
10463	SLC30A9	Hyperechogenic kidneys	HP:0004719
10463	SLC30A9	Oculomotor apraxia	HP:0000657
10463	SLC30A9	Choreoathetosis	HP:0001266
10463	SLC30A9	Tubulointerstitial nephritis	HP:0001970
10463	SLC30A9	Renal insufficiency	HP:0000083
10463	SLC30A9	Difficulty walking	HP:0002355
10463	SLC30A9	Dystonia	HP:0001332
10463	SLC30A9	Dyskinesia	HP:0100660
10463	SLC30A9	Ptosis	HP:0000508
10463	SLC30A9	Cognitive impairment	HP:0100543
10464	PIBF1	Biparietal narrowing	HP:0004422
10464	PIBF1	Gait disturbance	HP:0001288
10464	PIBF1	Hand polydactyly	HP:0001161
10464	PIBF1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
10464	PIBF1	Oral cleft	HP:0000202
10464	PIBF1	Aganglionic megacolon	HP:0002251
10464	PIBF1	Polymicrogyria	HP:0002126
10464	PIBF1	Anteverted nares	HP:0000463
10464	PIBF1	Oculomotor apraxia	HP:0000657
10464	PIBF1	Long face	HP:0000276
10464	PIBF1	Scoliosis	HP:0002650
10464	PIBF1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
10464	PIBF1	Situs inversus totalis	HP:0001696
10464	PIBF1	Intellectual disability	HP:0001249
10464	PIBF1	Seizures	HP:0001250
10464	PIBF1	Ataxia	HP:0001251
10464	PIBF1	Iris coloboma	HP:0000612
10464	PIBF1	Muscular hypotonia	HP:0001252
10464	PIBF1	Encephalocele	HP:0002084
10464	PIBF1	Foot polydactyly	HP:0001829
10464	PIBF1	Strabismus	HP:0000486
10464	PIBF1	Cerebellar vermis hypoplasia	HP:0001320
10464	PIBF1	Feeding difficulties in infancy	HP:0008872
10464	PIBF1	Prominent nasal bridge	HP:0000426
10464	PIBF1	Hydrocephalus	HP:0000238
10464	PIBF1	Global developmental delay	HP:0001263
10464	PIBF1	Abnormal form of the vertebral bodies	HP:0003312
10464	PIBF1	Low-set ears	HP:0000369
10464	PIBF1	Molar tooth sign on MRI	HP:0002419
10464	PIBF1	Apnea	HP:0002104
10464	PIBF1	Highly arched eyebrow	HP:0002553
10464	PIBF1	Tremor	HP:0001337
10464	PIBF1	Ptosis	HP:0000508
10464	PIBF1	Episodic tachypnea	HP:0002876
10464	PIBF1	Nystagmus	HP:0000639
2273	FHL1	Ichthyosis	HP:0008064
2273	FHL1	Joint contracture of the hand	HP:0009473
2273	FHL1	Limb-girdle muscular dystrophy	HP:0006785
2273	FHL1	Skeletal muscle atrophy	HP:0003202
2273	FHL1	EMG: myopathic abnormalities	HP:0003458
2273	FHL1	Myofibrillar myopathy	HP:0003715
2273	FHL1	Areflexia	HP:0001284
2273	FHL1	X-linked inheritance	HP:0001417
2273	FHL1	X-linked recessive inheritance	HP:0001419
2273	FHL1	Progressive pes cavus	HP:0008075
2273	FHL1	Atrioventricular block	HP:0001678
2273	FHL1	X-linked dominant inheritance	HP:0001423
2273	FHL1	Sprengel anomaly	HP:0000912
2273	FHL1	Broad palm	HP:0001169
2273	FHL1	Toe walking	HP:0040083
2273	FHL1	Retrognathia	HP:0000278
2273	FHL1	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0004631
2273	FHL1	Synophrys	HP:0000664
2273	FHL1	Arrhythmia	HP:0011675
2273	FHL1	Broad nail	HP:0001821
2273	FHL1	Hallux valgus	HP:0001822
2273	FHL1	Type 1 muscle fiber atrophy	HP:0011807
2273	FHL1	Proximal muscle weakness in lower limbs	HP:0008994
2273	FHL1	Ventricular escape rhythm	HP:0005155
2273	FHL1	Reduced tendon reflexes	HP:0001315
2273	FHL1	Elevated serum creatine kinase	HP:0003236
2273	FHL1	Proximal muscle weakness in upper limbs	HP:0008997
2273	FHL1	Lipodystrophy	HP:0009125
2273	FHL1	Absent muscle fiber emerin	HP:0030117
2273	FHL1	Elbow flexion contracture	HP:0002987
2273	FHL1	Camptodactyly of toe	HP:0001836
2273	FHL1	Lower limb muscle weakness	HP:0007340
2273	FHL1	Respiratory insufficiency	HP:0002093
2273	FHL1	Steppage gait	HP:0003376
2273	FHL1	Ventricular hypertrophy	HP:0001714
2273	FHL1	Difficulty walking	HP:0002355
2273	FHL1	Limited elbow movement	HP:0002996
2273	FHL1	Myotonia	HP:0002486
2273	FHL1	Frequent falls	HP:0002359
2273	FHL1	Respiratory insufficiency due to muscle weakness	HP:0002747
2273	FHL1	Wide nose	HP:0000445
2273	FHL1	Prominent nose	HP:0000448
2273	FHL1	Foot dorsiflexor weakness	HP:0009027
2273	FHL1	Vocal cord paralysis	HP:0001605
2273	FHL1	Increased LDL cholesterol concentration	HP:0003141
2273	FHL1	Abnormality of the voice	HP:0001608
2273	FHL1	Dislocation of toes	HP:0008141
2273	FHL1	Prominent supraorbital ridges	HP:0000336
2273	FHL1	Marked muscular hypertrophy	HP:0009042
2273	FHL1	Pugilistic facies	HP:0000339
2273	FHL1	Waddling gait	HP:0002515
2273	FHL1	Short neck	HP:0000470
2273	FHL1	Back pain	HP:0003418
2273	FHL1	Scoliosis	HP:0002650
2273	FHL1	Flexion contracture	HP:0001371
2273	FHL1	Progressive	HP:0003676
2273	FHL1	Rimmed vacuoles	HP:0003805
2273	FHL1	Congenital hip dislocation	HP:0001374
2273	FHL1	Scapuloperoneal myopathy	HP:0009054
2273	FHL1	Rapidly progressive	HP:0003678
2273	FHL1	Muscular hypotonia	HP:0001252
2273	FHL1	Increased variability in muscle fiber diameter	HP:0003557
2273	FHL1	Posteriorly rotated ears	HP:0000358
2273	FHL1	Cardiomyopathy	HP:0001638
2273	FHL1	Hypertrophic cardiomyopathy	HP:0001639
2273	FHL1	Everted lower lip vermilion	HP:0000232
2273	FHL1	Obesity	HP:0001513
2273	FHL1	Spinal rigidity	HP:0003306
2273	FHL1	Scapular winging	HP:0003691
2273	FHL1	Hyperlordosis	HP:0003307
2273	FHL1	Hypertriglyceridemia	HP:0002155
2273	FHL1	Achilles tendon contracture	HP:0001771
2273	FHL1	Joint stiffness	HP:0001387
2273	FHL1	Dilated cardiomyopathy	HP:0001644
2273	FHL1	Sudden cardiac death	HP:0001645
2273	FHL1	Downslanted palpebral fissures	HP:0000494
2273	FHL1	Low-set ears	HP:0000369
2273	FHL1	Hyporeflexia	HP:0001265
2273	FHL1	Brachyturricephaly	HP:0000244
2273	FHL1	Proximal upper limb amyotrophy	HP:0008948
2273	FHL1	Proximal muscle weakness	HP:0003701
2273	FHL1	Mitral regurgitation	HP:0001653
2273	FHL1	Scapuloperoneal weakness	HP:0003704
2273	FHL1	Kyphosis	HP:0002808
2273	FHL1	Supraventricular arrhythmia	HP:0005115
2273	FHL1	Ptosis	HP:0000508
2273	FHL1	Proximal lower limb amyotrophy	HP:0008956
2273	FHL1	Adult onset	HP:0003581
2273	FHL1	Myopathy	HP:0003198
2273	FHL1	Pectus excavatum	HP:0000767
10466	COG5	Intellectual disability	HP:0001249
10466	COG5	Muscular hypotonia	HP:0001252
10466	COG5	Atrophy/Degeneration affecting the brainstem	HP:0007366
10466	COG5	Autosomal recessive inheritance	HP:0000007
10466	COG5	Cerebellar atrophy	HP:0001272
10466	COG5	Type I transferrin isoform profile	HP:0003642
10466	COG5	Truncal ataxia	HP:0002078
2274	FHL2	EMG abnormality	HP:0003457
2274	FHL2	Abnormality of neutrophils	HP:0001874
2274	FHL2	Lipoatrophy	HP:0100578
2274	FHL2	Elevated serum creatine kinase	HP:0003236
2274	FHL2	Palmoplantar keratoderma	HP:0000982
2274	FHL2	Sensorineural hearing impairment	HP:0000407
2274	FHL2	Dilated cardiomyopathy	HP:0001644
2274	FHL2	Myopathy	HP:0003198
84197	POMK	Macrocephaly	HP:0000256
84197	POMK	Skeletal muscle atrophy	HP:0003202
84197	POMK	Areflexia	HP:0001284
84197	POMK	Cataract	HP:0000518
84197	POMK	Autosomal recessive inheritance	HP:0000007
84197	POMK	Optic atrophy	HP:0000648
84197	POMK	Infantile onset	HP:0003593
84197	POMK	Agyria	HP:0031882
84197	POMK	Psychomotor retardation	HP:0025356
84197	POMK	Metatarsus valgus	HP:0010508
84197	POMK	Anophthalmia	HP:0000528
84197	POMK	Abnormal circulating creatine kinase concentration	HP:0040081
84197	POMK	Corneal opacity	HP:0007957
84197	POMK	Pachygyria	HP:0001302
84197	POMK	Sensorineural hearing impairment	HP:0000407
84197	POMK	Dandy-Walker malformation	HP:0001305
84197	POMK	Protruding ear	HP:0000411
84197	POMK	Cryptorchidism	HP:0000028
84197	POMK	Retinal detachment	HP:0000541
84197	POMK	Hypoplasia of penis	HP:0008736
84197	POMK	Poor speech	HP:0002465
84197	POMK	Retinal degeneration	HP:0000546
84197	POMK	Elevated serum creatine kinase	HP:0003236
84197	POMK	Retinal dysplasia	HP:0007973
84197	POMK	Neonatal hypotonia	HP:0001319
84197	POMK	Cerebellar hypoplasia	HP:0001321
84197	POMK	Retinal dystrophy	HP:0000556
84197	POMK	Muscle weakness	HP:0001324
84197	POMK	Specific learning disability	HP:0001328
84197	POMK	Submucous cleft hard palate	HP:0000176
84197	POMK	Absent septum pellucidum	HP:0001331
84197	POMK	Chorioretinal dysplasia	HP:0007731
84197	POMK	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
84197	POMK	Microphthalmia	HP:0000568
84197	POMK	Respiratory insufficiency due to muscle weakness	HP:0002747
84197	POMK	Macrogyria	HP:0007227
84197	POMK	Hypoplasia of the brainstem	HP:0002365
84197	POMK	Cognitive impairment	HP:0100543
84197	POMK	Gowers sign	HP:0003391
84197	POMK	Feeding difficulties	HP:0011968
84197	POMK	Bifid uvula	HP:0000193
84197	POMK	Abnormally large globe	HP:0001090
84197	POMK	Coloboma	HP:0000589
84197	POMK	Polymicrogyria	HP:0002126
84197	POMK	Scoliosis	HP:0002650
84197	POMK	Flexion contracture	HP:0001371
84197	POMK	Type II lissencephaly	HP:0007260
84197	POMK	Difficulty climbing stairs	HP:0003551
84197	POMK	Intellectual disability	HP:0001249
84197	POMK	Seizures	HP:0001250
84197	POMK	Microcornea	HP:0000482
84197	POMK	Iris coloboma	HP:0000612
84197	POMK	Muscular hypotonia	HP:0001252
84197	POMK	Posteriorly rotated ears	HP:0000358
84197	POMK	Muscular dystrophy	HP:0003560
84197	POMK	Hydrocephalus	HP:0000238
84197	POMK	Global developmental delay	HP:0001263
84197	POMK	Reduced visual acuity	HP:0007663
84197	POMK	Abnormal aldolase level	HP:0012400
84197	POMK	Abnormal lactate dehydrogenase activity	HP:0045040
84197	POMK	Hyporeflexia	HP:0001265
84197	POMK	Low-set ears	HP:0000369
84197	POMK	Poor head control	HP:0002421
84197	POMK	Glaucoma	HP:0000501
84197	POMK	Motor delay	HP:0001270
84197	POMK	Congenital onset	HP:0003577
84197	POMK	Agenesis of corpus callosum	HP:0001274
84197	POMK	Microcephaly	HP:0000252
84197	POMK	Progressive microcephaly	HP:0000253
10472	ZBTB18	Depressed nasal bridge	HP:0005280
10472	ZBTB18	Absent speech	HP:0001344
10472	ZBTB18	Intellectual disability	HP:0001249
10472	ZBTB18	Seizures	HP:0001250
10472	ZBTB18	Short stature	HP:0004322
10472	ZBTB18	Autosomal dominant inheritance	HP:0000006
10472	ZBTB18	Thin vermilion border	HP:0000233
10472	ZBTB18	Generalized hypotonia	HP:0001290
10472	ZBTB18	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
10472	ZBTB18	Global developmental delay	HP:0001263
10472	ZBTB18	Low-set ears	HP:0000369
10472	ZBTB18	Variable expressivity	HP:0003828
10472	ZBTB18	Prominent forehead	HP:0011220
10472	ZBTB18	Round face	HP:0000311
10472	ZBTB18	Abnormality of the pinna	HP:0000377
10472	ZBTB18	Agenesis of corpus callosum	HP:0001274
10472	ZBTB18	Thin upper lip vermilion	HP:0000219
10472	ZBTB18	Micrognathia	HP:0000347
10472	ZBTB18	Microcephaly	HP:0000252
10472	ZBTB18	Hypertelorism	HP:0000316
10472	ZBTB18	Epicanthus	HP:0000286
10472	ZBTB18	Smooth philtrum	HP:0000319
10479	SLC9A6	Skeletal muscle atrophy	HP:0003202
10479	SLC9A6	Drooling	HP:0002307
10479	SLC9A6	Death in early adulthood	HP:0100613
10479	SLC9A6	Narrow chest	HP:0000774
10479	SLC9A6	Generalized hypotonia	HP:0001290
10479	SLC9A6	Loss of ability to walk in first decade	HP:0006794
10479	SLC9A6	Intellectual disability, profound	HP:0002187
10479	SLC9A6	X-linked dominant inheritance	HP:0001423
10479	SLC9A6	Macrotia	HP:0000400
10479	SLC9A6	Happy demeanor	HP:0040082
10479	SLC9A6	Gait ataxia	HP:0002066
10479	SLC9A6	Narrow face	HP:0000275
10479	SLC9A6	Long face	HP:0000276
10479	SLC9A6	Urinary incontinence	HP:0000020
10479	SLC9A6	Generalized-onset seizure	HP:0002197
10479	SLC9A6	Adducted thumb	HP:0001181
10479	SLC9A6	Truncal ataxia	HP:0002078
10479	SLC9A6	Photosensitive tonic-clonic seizures	HP:0007207
10479	SLC9A6	Feeding difficulties in infancy	HP:0008872
10479	SLC9A6	Mandibular prognathia	HP:0000303
10479	SLC9A6	Bowel incontinence	HP:0002607
10479	SLC9A6	Dystonia	HP:0001332
10479	SLC9A6	Hyperkinesis	HP:0002487
10479	SLC9A6	Sleep disturbance	HP:0002360
10479	SLC9A6	Conspicuously happy disposition	HP:0100024
10479	SLC9A6	Joint hyperflexibility	HP:0005692
10479	SLC9A6	Thick eyebrow	HP:0000574
10479	SLC9A6	Absent speech	HP:0001344
10479	SLC9A6	Aplasia/Hypoplasia of the cerebellum	HP:0007360
10479	SLC9A6	Open mouth	HP:0000194
10479	SLC9A6	Ventriculomegaly	HP:0002119
10479	SLC9A6	Cerebral cortical atrophy	HP:0002120
10479	SLC9A6	Developmental regression	HP:0002376
10479	SLC9A6	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
10479	SLC9A6	Autism	HP:0000717
10479	SLC9A6	Severe global developmental delay	HP:0011344
10479	SLC9A6	Slender finger	HP:0001238
10479	SLC9A6	Ophthalmoplegia	HP:0000602
10479	SLC9A6	Flexion contracture	HP:0001371
10479	SLC9A6	Stereotypy	HP:0000733
10479	SLC9A6	Dysphagia	HP:0002015
10479	SLC9A6	Abnormality of the foot	HP:0001760
10479	SLC9A6	Neuronal loss in central nervous system	HP:0002529
10479	SLC9A6	Gastroesophageal reflux	HP:0002020
10479	SLC9A6	Decreased body weight	HP:0004325
10479	SLC9A6	Strabismus	HP:0000486
10479	SLC9A6	Cachexia	HP:0004326
10479	SLC9A6	Intellectual disability, progressive	HP:0006887
10479	SLC9A6	Deeply set eye	HP:0000490
10479	SLC9A6	Inappropriate laughter	HP:0000748
10479	SLC9A6	Abnormality of the nose	HP:0000366
10479	SLC9A6	Global developmental delay	HP:0001263
10479	SLC9A6	Intellectual disability, severe	HP:0010864
10479	SLC9A6	Arthrogryposis multiplex congenita	HP:0002804
10479	SLC9A6	Long nose	HP:0003189
10479	SLC9A6	Cerebellar atrophy	HP:0001272
10479	SLC9A6	Mutism	HP:0002300
10479	SLC9A6	Microcephaly	HP:0000252
10479	SLC9A6	Pectus excavatum	HP:0000767
10479	SLC9A6	Decreased muscle mass	HP:0003199
10479	SLC9A6	Nystagmus	HP:0000639
2290	FOXG1	Athetosis	HP:0002305
2290	FOXG1	Drooling	HP:0002307
2290	FOXG1	Autosomal dominant inheritance	HP:0000006
2290	FOXG1	Apraxia	HP:0002186
2290	FOXG1	Abnormality of the antihelix	HP:0009738
2290	FOXG1	Camptodactyly of finger	HP:0100490
2290	FOXG1	Abnormality of the metacarpal bones	HP:0001163
2290	FOXG1	Nephrolithiasis	HP:0000787
2290	FOXG1	Pachygyria	HP:0001302
2290	FOXG1	Simplified gyral pattern	HP:0009879
2290	FOXG1	Chorea	HP:0002072
2290	FOXG1	Wide mouth	HP:0000154
2290	FOXG1	Protruding ear	HP:0000411
2290	FOXG1	Bulbous nose	HP:0000414
2290	FOXG1	Epicanthus	HP:0000286
2290	FOXG1	Macroglossia	HP:0000158
2290	FOXG1	Hypoplasia of the corpus callosum	HP:0002079
2290	FOXG1	Delayed myelination	HP:0012448
2290	FOXG1	Depressed nasal bridge	HP:0005280
2290	FOXG1	Sporadic	HP:0003745
2290	FOXG1	Fine hair	HP:0002213
2290	FOXG1	Neonatal hypotonia	HP:0001319
2290	FOXG1	Abnormality of the antitragus	HP:0009896
2290	FOXG1	Underdeveloped nasal alae	HP:0000430
2290	FOXG1	Mandibular prognathia	HP:0000303
2290	FOXG1	EEG abnormality	HP:0002353
2290	FOXG1	Poor eye contact	HP:0000817
2290	FOXG1	Bruxism	HP:0003763
2290	FOXG1	Dystonia	HP:0001332
2290	FOXG1	Tented upper lip vermilion	HP:0010804
2290	FOXG1	Dyskinesia	HP:0100660
2290	FOXG1	Thick vermilion border	HP:0012471
2290	FOXG1	Abnormality of movement	HP:0100022
2290	FOXG1	Wide nose	HP:0000445
2290	FOXG1	Palpebral edema	HP:0100540
2290	FOXG1	Smooth philtrum	HP:0000319
2290	FOXG1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2290	FOXG1	Feeding difficulties	HP:0011968
2290	FOXG1	Absent speech	HP:0001344
2290	FOXG1	Excessive salivation	HP:0003781
2290	FOXG1	Blepharophimosis	HP:0000581
2290	FOXG1	Ventriculomegaly	HP:0002119
2290	FOXG1	Cerebral cortical atrophy	HP:0002120
2290	FOXG1	Developmental regression	HP:0002376
2290	FOXG1	Abnormal fingernail morphology	HP:0001231
2290	FOXG1	Long philtrum	HP:0000343
2290	FOXG1	Scoliosis	HP:0002650
2290	FOXG1	Stereotypy	HP:0000733
2290	FOXG1	Tongue thrusting	HP:0100703
2290	FOXG1	Intellectual disability	HP:0001249
2290	FOXG1	Irritability	HP:0000737
2290	FOXG1	Seizures	HP:0001250
2290	FOXG1	Talipes equinovarus	HP:0001762
2290	FOXG1	Pes planus	HP:0001763
2290	FOXG1	Constipation	HP:0002019
2290	FOXG1	Gastroesophageal reflux	HP:0002020
2290	FOXG1	Muscular hypotonia	HP:0001252
2290	FOXG1	Growth delay	HP:0001510
2290	FOXG1	Everted lower lip vermilion	HP:0000232
2290	FOXG1	Spasticity	HP:0001257
2290	FOXG1	Hearing impairment	HP:0000365
2290	FOXG1	Downslanted palpebral fissures	HP:0000494
2290	FOXG1	Prominent metopic ridge	HP:0005487
2290	FOXG1	Intellectual disability, severe	HP:0010864
2290	FOXG1	Clinodactyly of the 5th finger	HP:0004209
2290	FOXG1	Motor delay	HP:0001270
2290	FOXG1	Kyphosis	HP:0002808
2290	FOXG1	Agenesis of corpus callosum	HP:0001274
2290	FOXG1	Microcephaly	HP:0000252
2290	FOXG1	Short nose	HP:0003196
2290	FOXG1	Progressive microcephaly	HP:0000253
10483	SEC23B	Lipoma	HP:0012032
10483	SEC23B	Macrocephaly	HP:0000256
10483	SEC23B	Gynecomastia	HP:0000771
10483	SEC23B	Reticulocytosis	HP:0001923
10483	SEC23B	Brachydactyly	HP:0001156
10483	SEC23B	Hemangioma	HP:0001028
10483	SEC23B	Cataract	HP:0000518
10483	SEC23B	Autosomal dominant inheritance	HP:0000006
10483	SEC23B	Autosomal recessive inheritance	HP:0000007
10483	SEC23B	Multiple cafe-au-lait spots	HP:0007565
10483	SEC23B	Cavernous hemangioma	HP:0001048
10483	SEC23B	Endopolyploidy on chromosome studies of bone marrow	HP:0003352
10483	SEC23B	Hypopigmented skin patches	HP:0001053
10483	SEC23B	Bone cyst	HP:0012062
10483	SEC23B	Macroglossia	HP:0000158
10483	SEC23B	Myopia	HP:0000545
10483	SEC23B	Abnormality of the penis	HP:0000036
10483	SEC23B	Abnormal cerebellum morphology	HP:0001317
10483	SEC23B	Hamartomatous polyposis	HP:0004390
10483	SEC23B	Meningioma	HP:0002858
10483	SEC23B	Trichilemmoma	HP:0012844
10483	SEC23B	Conjunctival hamartoma	HP:0100780
10483	SEC23B	Melanoma	HP:0002861
10483	SEC23B	Jaundice	HP:0000952
10483	SEC23B	Cholelithiasis	HP:0001081
10483	SEC23B	Breast carcinoma	HP:0003002
10483	SEC23B	Macule	HP:0012733
10483	SEC23B	Cognitive impairment	HP:0100543
10483	SEC23B	Papilloma	HP:0012740
10483	SEC23B	Reduced activity of N-acetylglucosaminyltransferase II	HP:0003655
10483	SEC23B	Subcutaneous nodule	HP:0001482
10483	SEC23B	Follicular thyroid carcinoma	HP:0006731
10483	SEC23B	Intestinal polyposis	HP:0200008
10483	SEC23B	Autism	HP:0000717
10483	SEC23B	Papillary thyroid carcinoma	HP:0002895
10483	SEC23B	Renal cell carcinoma	HP:0005584
10483	SEC23B	Splenomegaly	HP:0001744
10483	SEC23B	Endometrial carcinoma	HP:0012114
10483	SEC23B	Increased intracranial pressure	HP:0002516
10483	SEC23B	Goiter	HP:0000853
10483	SEC23B	Palmoplantar keratoderma	HP:0000982
10483	SEC23B	High palate	HP:0000218
10483	SEC23B	Scoliosis	HP:0002650
10483	SEC23B	Generalized hyperkeratosis	HP:0005595
10483	SEC23B	Anemia of inadequate production	HP:0010972
10483	SEC23B	Furrowed tongue	HP:0000221
10483	SEC23B	Papule	HP:0200034
10483	SEC23B	Intellectual disability	HP:0001249
10483	SEC23B	Short stature	HP:0004322
10483	SEC23B	Seizures	HP:0001250
10483	SEC23B	Mucosal telangiectasiae	HP:0100579
10483	SEC23B	Melanocytic nevus	HP:0000995
10483	SEC23B	Enlarged polycystic ovaries	HP:0008675
10483	SEC23B	Ataxia	HP:0001251
10483	SEC23B	Failure to thrive	HP:0001508
10483	SEC23B	Hashimoto thyroiditis	HP:0000872
10483	SEC23B	Hearing impairment	HP:0000365
10483	SEC23B	Global developmental delay	HP:0001263
10483	SEC23B	Adenoma sebaceum	HP:0009720
10483	SEC23B	Kyphosis	HP:0002808
10483	SEC23B	Ductal carcinoma in situ	HP:0030075
10483	SEC23B	Colorectal polyposis	HP:0200063
10483	SEC23B	Cellular immunodeficiency	HP:0005374
10483	SEC23B	Pectus excavatum	HP:0000767
10484	SEC23A	Macrocephaly	HP:0000256
10484	SEC23A	Wide anterior fontanel	HP:0000260
10484	SEC23A	Sparse hair	HP:0008070
10484	SEC23A	Narrow chest	HP:0000774
10484	SEC23A	Autosomal recessive inheritance	HP:0000007
10484	SEC23A	Optic atrophy	HP:0000648
10484	SEC23A	Malar flattening	HP:0000272
10484	SEC23A	Midface retrusion	HP:0011800
10484	SEC23A	Wide mouth	HP:0000154
10484	SEC23A	Cryptorchidism	HP:0000028
10484	SEC23A	Carious teeth	HP:0000670
10484	SEC23A	Coarse hair	HP:0002208
10484	SEC23A	Prominent nasal bridge	HP:0000426
10484	SEC23A	Osteopenia	HP:0000938
10484	SEC23A	Delayed eruption of teeth	HP:0000684
10484	SEC23A	Hypoplasia of teeth	HP:0000685
10484	SEC23A	Cleft palate	HP:0000175
10484	SEC23A	Wide nasal bridge	HP:0000431
10484	SEC23A	Microdontia	HP:0000691
10484	SEC23A	Narrow iliac wings	HP:0002868
10484	SEC23A	Esotropia	HP:0000565
10484	SEC23A	Hyperpigmentation of the skin	HP:0000953
10484	SEC23A	Capillary hemangioma	HP:0005306
10484	SEC23A	Joint hyperflexibility	HP:0005692
10484	SEC23A	Hypertelorism	HP:0000316
10484	SEC23A	Wide nose	HP:0000445
10484	SEC23A	Smooth philtrum	HP:0000319
10484	SEC23A	Bifid uvula	HP:0000193
10484	SEC23A	Delayed closure of the anterior fontanelle	HP:0001476
10484	SEC23A	Hypoplasia of the maxilla	HP:0000327
10484	SEC23A	Sutural cataract	HP:0010695
10484	SEC23A	Anteverted nares	HP:0000463
10484	SEC23A	Prominent supraorbital ridges	HP:0000336
10484	SEC23A	Premature loss of teeth	HP:0006480
10484	SEC23A	Long philtrum	HP:0000343
10484	SEC23A	Frontal bossing	HP:0002007
10484	SEC23A	Forehead hyperpigmentation	HP:0005336
10484	SEC23A	Scoliosis	HP:0002650
10484	SEC23A	High palate	HP:0000218
10484	SEC23A	Thin upper lip vermilion	HP:0000219
10484	SEC23A	Skeletal dysplasia	HP:0002652
10484	SEC23A	Posterior Y-sutural cataract	HP:0008031
10484	SEC23A	Punctate cataract	HP:0007648
10484	SEC23A	Short stature	HP:0004322
10484	SEC23A	Pes planus	HP:0001763
10484	SEC23A	Gastroesophageal reflux	HP:0002020
10484	SEC23A	High iliac wings	HP:0008808
10484	SEC23A	Thin vermilion border	HP:0000233
10484	SEC23A	Decreased skull ossification	HP:0004331
10484	SEC23A	Joint laxity	HP:0001388
10484	SEC23A	Delayed speech and language development	HP:0000750
10484	SEC23A	Large fontanelles	HP:0000239
10484	SEC23A	Brittle hair	HP:0002299
10484	SEC23A	Posterior wedging of vertebral bodies	HP:0008444
2294	FOXF1	Pulmonary valve atresia	HP:0010882
2294	FOXF1	Duodenal stenosis	HP:0100867
2294	FOXF1	Meckel diverticulum	HP:0002245
2294	FOXF1	Intestinal malrotation	HP:0002566
2294	FOXF1	Annular pancreas	HP:0001734
2294	FOXF1	Abnormality of the pulmonary veins	HP:0011718
2294	FOXF1	Autosomal dominant inheritance	HP:0000006
2294	FOXF1	Duodenal atresia	HP:0002247
2294	FOXF1	Autosomal recessive inheritance	HP:0000007
2294	FOXF1	Hydroureter	HP:0000072
2294	FOXF1	Absent gallbladder	HP:0011467
2294	FOXF1	Aganglionic megacolon	HP:0002251
2294	FOXF1	Abnormal vertebral morphology	HP:0003468
2294	FOXF1	Pulmonary insufficiency	HP:0010444
2294	FOXF1	Tracheoesophageal fistula	HP:0002575
2294	FOXF1	Asplenia	HP:0001746
2294	FOXF1	Volvulus	HP:0002580
2294	FOXF1	Polyhydramnios	HP:0001561
2294	FOXF1	Ventricular septal defect	HP:0001629
2294	FOXF1	Right-to-left shunt	HP:0001694
2294	FOXF1	Hypoplastic left heart	HP:0004383
2294	FOXF1	Atrial septal defect	HP:0001631
2294	FOXF1	Neonatal death	HP:0003811
2294	FOXF1	Tetralogy of Fallot	HP:0001636
2294	FOXF1	Anal atresia	HP:0002023
2294	FOXF1	Atrioventricular canal defect	HP:0006695
2294	FOXF1	Single umbilical artery	HP:0001195
2294	FOXF1	Patent ductus arteriosus	HP:0001643
2294	FOXF1	Pulmonary arterial hypertension	HP:0002092
2294	FOXF1	Bicuspid aortic valve	HP:0001647
2294	FOXF1	Respiratory distress	HP:0002098
2294	FOXF1	Aortic valve stenosis	HP:0001650
2294	FOXF1	Abnormal lung lobation	HP:0002101
2294	FOXF1	Hypertension	HP:0000822
2294	FOXF1	Hydronephrosis	HP:0000126
2296	FOXC1	Cataract	HP:0000518
2296	FOXC1	Autosomal dominant inheritance	HP:0000006
2296	FOXC1	Proptosis	HP:0000520
2296	FOXC1	Subcapsular cataract	HP:0000523
2296	FOXC1	Aniridia	HP:0000526
2296	FOXC1	Malar flattening	HP:0000272
2296	FOXC1	Heterogeneous	HP:0001425
2296	FOXC1	Peters anomaly	HP:0000659
2296	FOXC1	Sensorineural hearing impairment	HP:0000407
2296	FOXC1	Midface retrusion	HP:0011800
2296	FOXC1	Hypodontia	HP:0000668
2296	FOXC1	Depressed nasal bridge	HP:0005280
2296	FOXC1	Cerebellar vermis hypoplasia	HP:0001320
2296	FOXC1	Redundant skin	HP:0001582
2296	FOXC1	Rieger anomaly	HP:0000558
2296	FOXC1	Hypospadias	HP:0000047
2296	FOXC1	Wide nasal bridge	HP:0000431
2296	FOXC1	Microdontia	HP:0000691
2296	FOXC1	Hypoplastic iris stroma	HP:0007990
2296	FOXC1	Thinning of Descemet membrane	HP:0031159
2296	FOXC1	Visual loss	HP:0000572
2296	FOXC1	Hypertelorism	HP:0000316
2296	FOXC1	Ectopia pupillae	HP:0009918
2296	FOXC1	Developmental glaucoma	HP:0001087
2296	FOXC1	Hypoplasia of the maxilla	HP:0000327
2296	FOXC1	Abnormal anterior chamber morphology	HP:0000593
2296	FOXC1	Prominent forehead	HP:0011220
2296	FOXC1	Axenfeld anomaly	HP:0001492
2296	FOXC1	Abnormality of cardiovascular system morphology	HP:0030680
2296	FOXC1	Anterior synechiae of the anterior chamber	HP:0011483
2296	FOXC1	Atrial septal defect	HP:0001631
2296	FOXC1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2296	FOXC1	Abnormal iris vasculature	HP:0007905
2296	FOXC1	Central opacification of the cornea	HP:0011493
2296	FOXC1	Strabismus	HP:0000486
2296	FOXC1	Growth delay	HP:0001510
2296	FOXC1	Everted lower lip vermilion	HP:0000232
2296	FOXC1	Enlarged cisterna magna	HP:0002280
2296	FOXC1	Anal stenosis	HP:0002025
2296	FOXC1	Patent ductus arteriosus	HP:0001643
2296	FOXC1	Hearing impairment	HP:0000365
2296	FOXC1	Concave nasal ridge	HP:0011120
2296	FOXC1	Posterior embryotoxon	HP:0000627
2296	FOXC1	Glaucoma	HP:0000501
2296	FOXC1	Aplasia/Hypoplasia of the iris	HP:0008053
2296	FOXC1	Telecanthus	HP:0000506
2296	FOXC1	Aplasia/Hypoplasia of the macula	HP:0008059
2296	FOXC1	Hypoplasia of the iris	HP:0007676
2296	FOXC1	Nystagmus	HP:0000639
26873	OPLAH	Calcium oxalate nephrolithiasis	HP:0008672
26873	OPLAH	Prolinuria	HP:0003137
26873	OPLAH	Increased level of L-pyroglutamic acid in urine	HP:0410132
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	Reduced 5-oxoprolinase activity	HP:0040142
26873	OPLAH	Diarrhea	HP:0002014
2299	FOXI1	Intellectual disability	HP:0001249
2299	FOXI1	Ataxia	HP:0001251
2299	FOXI1	Autosomal recessive inheritance	HP:0000007
2299	FOXI1	Cochlear malformation	HP:0008554
2299	FOXI1	Thyroid carcinoma	HP:0002890
2299	FOXI1	Hypoplasia of the cochlea	HP:0008586
2299	FOXI1	Hyperparathyroidism	HP:0000843
2299	FOXI1	Respiratory insufficiency	HP:0002093
2299	FOXI1	Congenital sensorineural hearing impairment	HP:0008527
2299	FOXI1	Nephropathy	HP:0000112
2299	FOXI1	Vertigo	HP:0002321
2299	FOXI1	Abnormality of metabolism/homeostasis	HP:0001939
2299	FOXI1	Goiter	HP:0000853
2299	FOXI1	Hypothyroidism	HP:0000821
2299	FOXI1	Vestibular dysfunction	HP:0001751
2299	FOXI1	Sensorineural hearing impairment	HP:0000407
2299	FOXI1	Neurological speech impairment	HP:0002167
2299	FOXI1	Incomplete partition of the cochlea type II	HP:0000376
2299	FOXI1	Tracheal stenosis	HP:0002777
2299	FOXI1	Enlarged vestibular aqueduct	HP:0011387
2299	FOXI1	Compensated hypothyroidism	HP:0008223
10491	CRTAP	Wide anterior fontanel	HP:0000260
10491	CRTAP	Recurrent fractures	HP:0002757
10491	CRTAP	Narrow chest	HP:0000774
10491	CRTAP	Externally rotated/abducted legs	HP:0003783
10491	CRTAP	Autosomal recessive inheritance	HP:0000007
10491	CRTAP	Proptosis	HP:0000520
10491	CRTAP	Rhizomelia	HP:0008905
10491	CRTAP	Vertebral compression fractures	HP:0002953
10491	CRTAP	Delayed cranial suture closure	HP:0000270
10491	CRTAP	Blue sclerae	HP:0000592
10491	CRTAP	Wormian bones	HP:0002645
10491	CRTAP	Breech presentation	HP:0001623
10491	CRTAP	Long philtrum	HP:0000343
10491	CRTAP	Scoliosis	HP:0002650
10491	CRTAP	Crumpled long bones	HP:0006367
10491	CRTAP	Multiple prenatal fractures	HP:0005855
10491	CRTAP	Absent pulmonary artery	HP:0004960
10491	CRTAP	Decreased calvarial ossification	HP:0005474
10491	CRTAP	Bowing of the legs	HP:0002979
10491	CRTAP	Micromelia	HP:0002983
10491	CRTAP	Wide cranial sutures	HP:0010537
10491	CRTAP	Osteopenia	HP:0000938
10491	CRTAP	Protrusio acetabuli	HP:0003179
10491	CRTAP	Multiple rib fractures	HP:0006640
10491	CRTAP	Death in infancy	HP:0001522
10491	CRTAP	Round face	HP:0000311
10491	CRTAP	Hypoplastic pulmonary veins	HP:0005304
10491	CRTAP	Coxa vara	HP:0002812
10491	CRTAP	Hydronephrosis	HP:0000126
10491	CRTAP	Pectus excavatum	HP:0000767
2301	FOXE3	Umbilical hernia	HP:0001537
2301	FOXE3	Carotid artery dilatation	HP:0012163
2301	FOXE3	Cataract	HP:0000518
2301	FOXE3	Sclerocornea	HP:0000647
2301	FOXE3	Autosomal recessive inheritance	HP:0000007
2301	FOXE3	Subcapsular cataract	HP:0000523
2301	FOXE3	Chest pain	HP:0100749
2301	FOXE3	Coronary artery atherosclerosis	HP:0001677
2301	FOXE3	Abnormality iris morphology	HP:0000525
2301	FOXE3	Arachnodactyly	HP:0001166
2301	FOXE3	Aniridia	HP:0000526
2301	FOXE3	High, narrow palate	HP:0002705
2301	FOXE3	Peters anomaly	HP:0000659
2301	FOXE3	Transient ischemic attack	HP:0002326
2301	FOXE3	Retrognathia	HP:0000278
2301	FOXE3	Sensorineural hearing impairment	HP:0000407
2301	FOXE3	Inguinal hernia	HP:0000023
2301	FOXE3	Congenital aphakia	HP:0007707
2301	FOXE3	Abnormality of the dentition	HP:0000164
2301	FOXE3	Retinal dysplasia	HP:0007973
2301	FOXE3	Dural ectasia	HP:0100775
2301	FOXE3	Left ventricular dysfunction	HP:0005162
2301	FOXE3	Iris hypopigmentation	HP:0007730
2301	FOXE3	Keratoconus	HP:0000563
2301	FOXE3	Macular hypopigmentation	HP:0007988
2301	FOXE3	Hypertension	HP:0000822
2301	FOXE3	Thinning of Descemet membrane	HP:0031159
2301	FOXE3	Abnormality of the sense of smell	HP:0004408
2301	FOXE3	Microphthalmia	HP:0000568
2301	FOXE3	Aortic root aneurysm	HP:0002616
2301	FOXE3	Hemoptysis	HP:0002105
2301	FOXE3	Ectopia lentis	HP:0001083
2301	FOXE3	Pneumothorax	HP:0002107
2301	FOXE3	Exertional dyspnea	HP:0002875
2301	FOXE3	Hypertelorism	HP:0000316
2301	FOXE3	Developmental glaucoma	HP:0001087
2301	FOXE3	Ascending aortic dissection	HP:0004933
2301	FOXE3	Cutis marmorata	HP:0000965
2301	FOXE3	Keratoconjunctivitis sicca	HP:0001097
2301	FOXE3	Short palpebral fissure	HP:0012745
2301	FOXE3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
2301	FOXE3	Optic nerve coloboma	HP:0000588
2301	FOXE3	Coloboma	HP:0000589
2301	FOXE3	Abnormality of the genital system	HP:0000078
2301	FOXE3	Opacification of the corneal stroma	HP:0007759
2301	FOXE3	Macular hypoplasia	HP:0001104
2301	FOXE3	Dilatation of the cerebral artery	HP:0004944
2301	FOXE3	Mucoid extracellular matrix accumulation	HP:0200146
2301	FOXE3	Bruising susceptibility	HP:0000978
2301	FOXE3	Descending aortic dissection	HP:0012499
2301	FOXE3	Peripheral arterial stenosis	HP:0004950
2301	FOXE3	Corneal erosion	HP:0200020
2301	FOXE3	Subarachnoid hemorrhage	HP:0002138
2301	FOXE3	Scoliosis	HP:0002650
2301	FOXE3	Anterior synechiae of the anterior chamber	HP:0011483
2301	FOXE3	Paroxysmal dyspnea	HP:0012763
2301	FOXE3	Ischemic stroke	HP:0002140
2301	FOXE3	Posterior synechiae of the anterior chamber	HP:0011484
2301	FOXE3	Descending thoracic aorta aneurysm	HP:0004959
2301	FOXE3	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2301	FOXE3	Intellectual disability	HP:0001249
2301	FOXE3	Optic nerve hypoplasia	HP:0000609
2301	FOXE3	Microcornea	HP:0000482
2301	FOXE3	Hypovolemia	HP:0011106
2301	FOXE3	Tall stature	HP:0000098
2301	FOXE3	Ocular hypertension	HP:0007906
2301	FOXE3	Pes planus	HP:0001763
2301	FOXE3	Anterior segment of eye aplasia	HP:0007779
2301	FOXE3	Photophobia	HP:0000613
2301	FOXE3	Central opacification of the cornea	HP:0011493
2301	FOXE3	Strabismus	HP:0000486
2301	FOXE3	Corneal neovascularization	HP:0011496
2301	FOXE3	Cardiomegaly	HP:0001640
2301	FOXE3	Patent ductus arteriosus	HP:0001643
2301	FOXE3	Global developmental delay	HP:0001263
2301	FOXE3	Bicuspid aortic valve	HP:0001647
2301	FOXE3	Aplasia/Hypoplasia of the iris	HP:0008053
2301	FOXE3	Glaucoma	HP:0000501
2301	FOXE3	Abnormality of vision	HP:0000504
2301	FOXE3	Abdominal aortic aneurysm	HP:0005112
2301	FOXE3	Visual impairment	HP:0000505
2301	FOXE3	Aortic regurgitation	HP:0001659
2301	FOXE3	Ptosis	HP:0000508
2301	FOXE3	Prenatal maternal abnormality	HP:0002686
2301	FOXE3	Abnormality of the sternum	HP:0000766
2301	FOXE3	Nystagmus	HP:0000639
2303	FOXC2	Abnormality of the pulmonary vasculature	HP:0004930
2303	FOXC2	Abnormality of the musculature	HP:0003011
2303	FOXC2	Corneal ulceration	HP:0012804
2303	FOXC2	Cataract	HP:0000518
2303	FOXC2	Autosomal dominant inheritance	HP:0000006
2303	FOXC2	Recurrent urinary tract infections	HP:0000010
2303	FOXC2	Renal duplication	HP:0000075
2303	FOXC2	Cleft upper lip	HP:0000204
2303	FOXC2	Distichiasis	HP:0009743
2303	FOXC2	Ectropion	HP:0000656
2303	FOXC2	Webbed neck	HP:0000465
2303	FOXC2	Spinalarachnoid cyst	HP:0009745
2303	FOXC2	Fibrosarcoma	HP:0100244
2303	FOXC2	Glomerulopathy	HP:0100820
2303	FOXC2	Corneal erosion	HP:0200020
2303	FOXC2	Arrhythmia	HP:0011675
2303	FOXC2	Proteinuria	HP:0000093
2303	FOXC2	Ventricular septal defect	HP:0001629
2303	FOXC2	Predominantly lower limb lymphedema	HP:0003550
2303	FOXC2	Tetralogy of Fallot	HP:0001636
2303	FOXC2	Photophobia	HP:0000613
2303	FOXC2	Patent ductus arteriosus	HP:0001643
2303	FOXC2	Muscle weakness	HP:0001324
2303	FOXC2	Lymphedema	HP:0001004
2303	FOXC2	Recurrent skin infections	HP:0001581
2303	FOXC2	Cleft palate	HP:0000175
2303	FOXC2	Recurrent corneal erosions	HP:0000495
2303	FOXC2	Tubulointerstitial nephritis	HP:0001970
2303	FOXC2	Diabetes mellitus	HP:0000819
2303	FOXC2	Cellulitis	HP:0100658
2303	FOXC2	Varicose veins	HP:0002619
2303	FOXC2	Ptosis	HP:0000508
2303	FOXC2	Conjunctivitis	HP:0000509
84225	ZMYND15	Increased circulating gonadotropin level	HP:0000837
84225	ZMYND15	Autosomal recessive inheritance	HP:0000007
84225	ZMYND15	Non-obstructive azoospermia	HP:0011961
84225	ZMYND15	Obstructive azoospermia	HP:0011962
84225	ZMYND15	Azoospermia	HP:0000027
84225	ZMYND15	Decreased testicular size	HP:0008734
2304	FOXE1	Neoplasm of head and neck	HP:0012288
2304	FOXE1	Chronic lung disease	HP:0006528
2304	FOXE1	Spinal cord compression	HP:0002176
2304	FOXE1	Feeding difficulties	HP:0011968
2304	FOXE1	Bifid epiglottis	HP:0010564
2304	FOXE1	Choanal atresia	HP:0000453
2304	FOXE1	Recurrent fractures	HP:0002757
2304	FOXE1	Abdominal distention	HP:0003270
2304	FOXE1	Autosomal recessive inheritance	HP:0000007
2304	FOXE1	Abnormality of neck blood vessel	HP:3000037
2304	FOXE1	Follicular thyroid carcinoma	HP:0006731
2304	FOXE1	Papillary thyroid carcinoma	HP:0002895
2304	FOXE1	Congenital hypothyroidism	HP:0000851
2304	FOXE1	Retrognathia	HP:0000278
2304	FOXE1	Coarse facial features	HP:0000280
2304	FOXE1	Polyhydramnios	HP:0001561
2304	FOXE1	Fatigue	HP:0012378
2304	FOXE1	Bone pain	HP:0002653
2304	FOXE1	Macroglossia	HP:0000158
2304	FOXE1	Intellectual disability	HP:0001249
2304	FOXE1	Abnormal hair quantity	HP:0011362
2304	FOXE1	Short stature	HP:0004322
2304	FOXE1	Constipation	HP:0002019
2304	FOXE1	Muscular hypotonia	HP:0001252
2304	FOXE1	Chronic noninfectious lymphadenopathy	HP:0002730
2304	FOXE1	Nodular goiter	HP:0005994
2304	FOXE1	Muscle weakness	HP:0001324
2304	FOXE1	Papillary renal cell carcinoma	HP:0006766
2304	FOXE1	Cleft palate	HP:0000175
2304	FOXE1	Large fontanelles	HP:0000239
2304	FOXE1	Global developmental delay	HP:0001263
2304	FOXE1	Intellectual disability, severe	HP:0010864
2304	FOXE1	Hypersomnia	HP:0100786
2304	FOXE1	Hypothyroidism	HP:0000821
2304	FOXE1	Colon cancer	HP:0003003
2304	FOXE1	Thyroid agenesis	HP:0008191
2308	FOXO1	Autosomal recessive inheritance	HP:0000007
2308	FOXO1	Alveolar rhabdomyosarcoma	HP:0006779
84231	TRAF7	Tethered cord	HP:0002144
84231	TRAF7	Cerebral visual impairment	HP:0100704
84231	TRAF7	Umbilical hernia	HP:0001537
84231	TRAF7	Seizures	HP:0001250
84231	TRAF7	Clinodactyly	HP:0030084
84231	TRAF7	Ventriculomegaly	HP:0002119
84231	TRAF7	Optic atrophy	HP:0000648
84231	TRAF7	Generalized hypotonia	HP:0001290
84231	TRAF7	Pulmonic stenosis	HP:0001642
84231	TRAF7	Patent ductus arteriosus	HP:0001643
84231	TRAF7	Cerebral atrophy	HP:0002059
84231	TRAF7	Hearing impairment	HP:0000365
84231	TRAF7	Delayed speech and language development	HP:0000750
84231	TRAF7	Global developmental delay	HP:0001263
84231	TRAF7	Coarctation of aorta	HP:0001680
84231	TRAF7	Low-set ears	HP:0000369
84231	TRAF7	Double outlet right ventricle	HP:0001719
84231	TRAF7	Abnormality of the pinna	HP:0000377
84231	TRAF7	Thickened nuchal skin fold	HP:0000474
84231	TRAF7	Cystic hygroma	HP:0000476
84231	TRAF7	Hypertonia	HP:0001276
84231	TRAF7	Ptosis	HP:0000508
84231	TRAF7	Epicanthus	HP:0000286
84231	TRAF7	Hypoplastic left heart	HP:0004383
2312	FLG	Eczematoid dermatitis	HP:0000976
2312	FLG	Ichthyosis	HP:0008064
2312	FLG	Asthma	HP:0002099
2312	FLG	Autosomal dominant inheritance	HP:0000006
84233	TMEM126A	Strabismus	HP:0000486
84233	TMEM126A	Autosomal recessive inheritance	HP:0000007
84233	TMEM126A	Hypertrophic cardiomyopathy	HP:0001639
84233	TMEM126A	Optic atrophy	HP:0000648
84233	TMEM126A	Constriction of peripheral visual field	HP:0001133
84233	TMEM126A	Reduced visual acuity	HP:0007663
84233	TMEM126A	Variable expressivity	HP:0003828
84233	TMEM126A	Pallor	HP:0000980
84233	TMEM126A	Sensorineural hearing impairment	HP:0000407
84233	TMEM126A	Dyschromatopsia	HP:0007641
84233	TMEM126A	Horizontal nystagmus	HP:0000666
84233	TMEM126A	Central scotoma	HP:0000603
84233	TMEM126A	Optic disc pallor	HP:0000543
2313	FLI1	Macrocephaly	HP:0000256
2313	FLI1	Metrorrhagia	HP:0100608
2313	FLI1	Multicystic kidney dysplasia	HP:0000003
2313	FLI1	Ascites	HP:0001541
2313	FLI1	Autosomal dominant inheritance	HP:0000006
2313	FLI1	Cataract	HP:0000518
2313	FLI1	Intestinal malrotation	HP:0002566
2313	FLI1	Ovarian neoplasm	HP:0100615
2313	FLI1	Autosomal recessive inheritance	HP:0000007
2313	FLI1	Proptosis	HP:0000520
2313	FLI1	Broad columella	HP:0010761
2313	FLI1	Hip dislocation	HP:0002827
2313	FLI1	Cerebral atrophy	HP:0002059
2313	FLI1	Headache	HP:0002315
2313	FLI1	Pelvic mass	HP:0031501
2313	FLI1	Episodic abdominal pain	HP:0002574
2313	FLI1	Vertigo	HP:0002321
2313	FLI1	Pachygyria	HP:0001302
2313	FLI1	Inguinal hernia	HP:0000023
2313	FLI1	Cryptorchidism	HP:0000028
2313	FLI1	Epicanthus	HP:0000286
2313	FLI1	Hypoplastic left heart	HP:0004383
2313	FLI1	Uterine neoplasm	HP:0010784
2313	FLI1	Weight loss	HP:0001824
2313	FLI1	Short toe	HP:0001831
2313	FLI1	Ectopic anus	HP:0004397
2313	FLI1	Elevated carcinoma antigen 125 level	HP:0031030
2313	FLI1	Long hallux	HP:0001847
2313	FLI1	Precocious puberty	HP:0000826
2313	FLI1	Hypertelorism	HP:0000316
2313	FLI1	Spinal cord tumor	HP:0010302
2313	FLI1	Smooth philtrum	HP:0000319
2313	FLI1	Facial asymmetry	HP:0000324
2313	FLI1	Ventriculomegaly	HP:0002119
2313	FLI1	Toe clinodactyly	HP:0001863
2313	FLI1	Broad hallux phalanx	HP:0010059
2313	FLI1	Neoplasm of the pancreas	HP:0002894
2313	FLI1	Thrombocytopenia	HP:0001873
2313	FLI1	Premature birth	HP:0001622
2313	FLI1	Long philtrum	HP:0000343
2313	FLI1	Scoliosis	HP:0002650
2313	FLI1	Abnormality of the cardiovascular system	HP:0001626
2313	FLI1	Back pain	HP:0003418
2313	FLI1	Talipes	HP:0001883
2313	FLI1	Increased lactate dehydrogenase activity	HP:0025435
2313	FLI1	High forehead	HP:0000348
2313	FLI1	Ventricular septal defect	HP:0001629
2313	FLI1	Iris coloboma	HP:0000612
2313	FLI1	Abnormal bleeding	HP:0001892
2313	FLI1	Abnormality of the thoracic spine	HP:0100711
2313	FLI1	Attention deficit hyperactivity disorder	HP:0007018
2313	FLI1	Spina bifida	HP:0002414
2313	FLI1	Elevated alpha-fetoprotein	HP:0006254
2313	FLI1	Anemia	HP:0001903
2313	FLI1	Low-set, posteriorly rotated ears	HP:0000368
2313	FLI1	Eyelid coloboma	HP:0000625
2313	FLI1	Aortic valve stenosis	HP:0001650
2313	FLI1	Peripheral primitive neuroectodermal neoplasm	HP:0030067
2313	FLI1	Short nose	HP:0003196
2313	FLI1	Hydronephrosis	HP:0000126
2313	FLI1	Menorrhagia	HP:0000132
2313	FLI1	Bipolar affective disorder	HP:0007302
2313	FLI1	Hand polydactyly	HP:0001161
2313	FLI1	Schizophrenia	HP:0100753
2313	FLI1	Coarctation of aorta	HP:0001680
2313	FLI1	Ectropion	HP:0000656
2313	FLI1	Sensory impairment	HP:0003474
2313	FLI1	Bone marrow hypocellularity	HP:0005528
2313	FLI1	Missing ribs	HP:0000921
2313	FLI1	Abnormality of the superior cerebellar peduncle	HP:0011932
2313	FLI1	Recurrent respiratory infections	HP:0002205
2313	FLI1	Feeding difficulties in infancy	HP:0008872
2313	FLI1	Lower limb muscle weakness	HP:0007340
2313	FLI1	Abnormality of the scalp	HP:0001965
2313	FLI1	Abnormal palate morphology	HP:0000174
2313	FLI1	Wide nasal bridge	HP:0000431
2313	FLI1	Aplasia/Hypoplasia of the earlobes	HP:0009906
2313	FLI1	Psoriasiform dermatitis	HP:0003765
2313	FLI1	Jaundice	HP:0000952
2313	FLI1	Eczema	HP:0000964
2313	FLI1	Pancreatitis	HP:0001733
2313	FLI1	Annular pancreas	HP:0001734
2313	FLI1	Abdominal distention	HP:0003270
2313	FLI1	Duodenal atresia	HP:0002247
2313	FLI1	Anteverted nares	HP:0000463
2313	FLI1	Webbed neck	HP:0000465
2313	FLI1	Impaired platelet aggregation	HP:0003540
2313	FLI1	Finger syndactyly	HP:0006101
2313	FLI1	Short neck	HP:0000470
2313	FLI1	Frontal bossing	HP:0002007
2313	FLI1	Torticollis	HP:0000473
2313	FLI1	Pruritus	HP:0000989
2313	FLI1	Intellectual disability	HP:0001249
2313	FLI1	Nausea and vomiting	HP:0002017
2313	FLI1	Upper limb pain	HP:0012513
2313	FLI1	Microcornea	HP:0000482
2313	FLI1	Seizures	HP:0001250
2313	FLI1	Short stature	HP:0004322
2313	FLI1	Constipation	HP:0002019
2313	FLI1	Pes planus	HP:0001763
2313	FLI1	Brain neoplasm	HP:0030692
2313	FLI1	Pyloric stenosis	HP:0002021
2313	FLI1	Strabismus	HP:0000486
2313	FLI1	Intrauterine growth retardation	HP:0001511
2313	FLI1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
2313	FLI1	Toe syndactyly	HP:0001770
2313	FLI1	Downslanted palpebral fissures	HP:0000494
2313	FLI1	Global developmental delay	HP:0001263
2313	FLI1	Abnormal form of the vertebral bodies	HP:0003312
2313	FLI1	Neoplasm of the scrotum	HP:0100849
2313	FLI1	Hyporeflexia	HP:0001265
2313	FLI1	Death in infancy	HP:0001522
2313	FLI1	Trigonocephaly	HP:0000243
2313	FLI1	Anorexia	HP:0002039
2313	FLI1	Agenesis of corpus callosum	HP:0001274
2313	FLI1	Ptosis	HP:0000508
2314	FLII	Brachydactyly	HP:0001156
2314	FLII	Chronic otitis media	HP:0000389
2314	FLII	Gait disturbance	HP:0001288
2314	FLII	Hand polydactyly	HP:0001161
2314	FLII	Conductive hearing impairment	HP:0000405
2314	FLII	Decreased fetal movement	HP:0001558
2314	FLII	Midface retrusion	HP:0011800
2314	FLII	Synophrys	HP:0000664
2314	FLII	Hyperacusis	HP:0010780
2314	FLII	Retinal detachment	HP:0000541
2314	FLII	Impaired pain sensation	HP:0007328
2314	FLII	Depressed nasal bridge	HP:0005280
2314	FLII	Myopia	HP:0000545
2314	FLII	Taurodontia	HP:0000679
2314	FLII	Feeding difficulties in infancy	HP:0008872
2314	FLII	Delayed eruption of primary teeth	HP:0000680
2314	FLII	Cleft palate	HP:0000175
2314	FLII	Wide nasal bridge	HP:0000431
2314	FLII	Mandibular prognathia	HP:0000303
2314	FLII	EEG abnormality	HP:0002353
2314	FLII	Hypercholesterolemia	HP:0003124
2314	FLII	Tented upper lip vermilion	HP:0010804
2314	FLII	Hypothyroidism	HP:0000821
2314	FLII	Delayed puberty	HP:0000823
2314	FLII	Sleep disturbance	HP:0002360
2314	FLII	Precocious puberty	HP:0000826
2314	FLII	Hypertelorism	HP:0000316
2314	FLII	Abnormal localization of kidney	HP:0100542
2314	FLII	Short philtrum	HP:0000322
2314	FLII	Open mouth	HP:0000194
2314	FLII	Abnormality of the ureter	HP:0000069
2314	FLII	Upslanted palpebral fissure	HP:0000582
2314	FLII	Ventriculomegaly	HP:0002119
2314	FLII	Hoarse voice	HP:0001609
2314	FLII	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
2314	FLII	Cleft upper lip	HP:0000204
2314	FLII	Anteverted nares	HP:0000463
2314	FLII	Broad forehead	HP:0000337
2314	FLII	Frontal bossing	HP:0002007
2314	FLII	Abnormality of cardiovascular system morphology	HP:0030680
2314	FLII	Scoliosis	HP:0002650
2314	FLII	Micrognathia	HP:0000347
2314	FLII	Stereotypy	HP:0000733
2314	FLII	Intellectual disability	HP:0001249
2314	FLII	Short stature	HP:0004322
2314	FLII	Seizures	HP:0001250
2314	FLII	Microcornea	HP:0000482
2314	FLII	Anxiety	HP:0000739
2314	FLII	Constipation	HP:0002019
2314	FLII	Pes planus	HP:0001763
2314	FLII	Muscular hypotonia	HP:0001252
2314	FLII	Gastroesophageal reflux	HP:0002020
2314	FLII	Strabismus	HP:0000486
2314	FLII	Renal hypoplasia/aplasia	HP:0008678
2314	FLII	Abnormal tracheobronchial morphology	HP:0005607
2314	FLII	Corticospinal tract hypoplasia	HP:0007016
2314	FLII	Obesity	HP:0001513
2314	FLII	Toe syndactyly	HP:0001770
2314	FLII	Attention deficit hyperactivity disorder	HP:0007018
2314	FLII	Deeply set eye	HP:0000490
2314	FLII	Joint stiffness	HP:0001387
2314	FLII	Hypertriglyceridemia	HP:0002155
2314	FLII	Self-injurious behavior	HP:0100716
2314	FLII	Delayed speech and language development	HP:0000750
2314	FLII	Global developmental delay	HP:0001263
2314	FLII	Abnormal form of the vertebral bodies	HP:0003312
2314	FLII	Clinodactyly of the 5th finger	HP:0004209
2314	FLII	Hyporeflexia	HP:0001265
2314	FLII	Neurological speech impairment	HP:0002167
2314	FLII	Large face	HP:0100729
2314	FLII	Brachycephaly	HP:0000248
2314	FLII	Failure to thrive in infancy	HP:0001531
2314	FLII	Microcephaly	HP:0000252
2314	FLII	Short nose	HP:0003196
2316	FLNA	Anteriorly placed odontoid process	HP:0004608
2316	FLNA	Omphalocele	HP:0001539
2316	FLNA	Anterior concavity of thoracic vertebrae	HP:0004611
2316	FLNA	Intestinal malrotation	HP:0002566
2316	FLNA	Cataract	HP:0000518
2316	FLNA	Proptosis	HP:0000520
2316	FLNA	Abnormal vertebral segmentation and fusion	HP:0005640
2316	FLNA	Infantile onset	HP:0003593
2316	FLNA	Coat hanger sign of ribs	HP:0006665
2316	FLNA	Dislocated radial head	HP:0003083
2316	FLNA	Long phalanx of finger	HP:0006155
2316	FLNA	Irregular metacarpals	HP:0006160
2316	FLNA	Midface retrusion	HP:0011800
2316	FLNA	Cryptorchidism	HP:0000028
2316	FLNA	Abnormal cortical bone morphology	HP:0003103
2316	FLNA	Multiple impacted teeth	HP:0001571
2316	FLNA	Short chordae tendineae of the tricuspid valve	HP:0006692
2316	FLNA	Encephalocele	HP:0002084
2316	FLNA	Atrioventricular canal defect	HP:0006695
2316	FLNA	Broad thumb	HP:0011304
2316	FLNA	Broad phalanges of the hand	HP:0009768
2316	FLNA	Pulmonary hypoplasia	HP:0002089
2316	FLNA	Osteolytic defects of the phalanges of the hand	HP:0009771
2316	FLNA	Pulmonary arterial hypertension	HP:0002092
2316	FLNA	Respiratory insufficiency	HP:0002093
2316	FLNA	Hypospadias	HP:0000047
2316	FLNA	Short thumb	HP:0009778
2316	FLNA	Selective tooth agenesis	HP:0001592
2316	FLNA	Joint hyperflexibility	HP:0005692
2316	FLNA	Tricuspid regurgitation	HP:0005180
2316	FLNA	Partial fusion of carpals	HP:0006207
2316	FLNA	Developmental glaucoma	HP:0001087
2316	FLNA	Short thorax	HP:0010306
2316	FLNA	Stridor	HP:0010307
2316	FLNA	Ureteral stenosis	HP:0000071
2316	FLNA	Subglottic stenosis	HP:0001607
2316	FLNA	Frontal hirsutism	HP:0011335
2316	FLNA	Hydroureter	HP:0000072
2316	FLNA	Hoarse voice	HP:0001609
2316	FLNA	Reduced number of teeth	HP:0009804
2316	FLNA	Vesicoureteral reflux	HP:0000076
2316	FLNA	Flat face	HP:0012368
2316	FLNA	Wormian bones	HP:0002645
2316	FLNA	Scoliosis	HP:0002650
2316	FLNA	Localized skin lesion	HP:0011355
2316	FLNA	Skeletal dysplasia	HP:0002652
2316	FLNA	Mitral valve prolapse	HP:0001634
2316	FLNA	Congestive heart failure	HP:0001635
2316	FLNA	Iris coloboma	HP:0000612
2316	FLNA	Abnormality of the pubic bone	HP:0003172
2316	FLNA	Increased mean platelet volume	HP:0011877
2316	FLNA	Patent ductus arteriosus	HP:0001643
2316	FLNA	Scapular winging	HP:0003691
2316	FLNA	Bicuspid aortic valve	HP:0001647
2316	FLNA	Cor pulmonale	HP:0001648
2316	FLNA	Coxa valga	HP:0002673
2316	FLNA	Nail dysplasia	HP:0002164
2316	FLNA	Mitral regurgitation	HP:0001653
2316	FLNA	Abnormal heart valve morphology	HP:0001654
2316	FLNA	Aortic regurgitation	HP:0001659
2316	FLNA	Short nose	HP:0003196
2316	FLNA	Thickened calvaria	HP:0002684
2316	FLNA	Intestinal hypoplasia	HP:0005245
2316	FLNA	Hydronephrosis	HP:0000126
2316	FLNA	Absent frontal sinuses	HP:0002688
2316	FLNA	Skeletal muscle atrophy	HP:0003202
2316	FLNA	Brachydactyly	HP:0001156
2316	FLNA	Sclerosis of skull base	HP:0002694
2316	FLNA	Syndactyly	HP:0001159
2316	FLNA	Abnormal cardiac septum morphology	HP:0001671
2316	FLNA	Accessory carpal bones	HP:0004232
2316	FLNA	Postaxial hand polydactyly	HP:0001162
2316	FLNA	Camptodactyly of finger	HP:0100490
2316	FLNA	Abnormality of the metacarpal bones	HP:0001163
2316	FLNA	Large foramen magnum	HP:0002700
2316	FLNA	Arachnodactyly	HP:0001166
2316	FLNA	Short distal phalanx of finger	HP:0009882
2316	FLNA	Recurrent respiratory infections	HP:0002205
2316	FLNA	Recurrent infections	HP:0002719
2316	FLNA	Narrow mouth	HP:0000160
2316	FLNA	Depressed nasal bridge	HP:0005280
2316	FLNA	Coarse hair	HP:0002208
2316	FLNA	Short humerus	HP:0005792
2316	FLNA	Anodontia	HP:0000674
2316	FLNA	Glossoptosis	HP:0000162
2316	FLNA	Oligodontia	HP:0000677
2316	FLNA	Feeding difficulties in infancy	HP:0008872
2316	FLNA	Tricuspid valve prolapse	HP:0001704
2316	FLNA	Congenital shortened small intestine	HP:0030889
2316	FLNA	Delayed eruption of teeth	HP:0000684
2316	FLNA	Cleft palate	HP:0000175
2316	FLNA	Tarsal synostosis	HP:0008368
2316	FLNA	Thick skull base	HP:0002737
2316	FLNA	Dental malocclusion	HP:0000689
2316	FLNA	Hypoplastic frontal sinuses	HP:0002738
2316	FLNA	Misalignment of teeth	HP:0000692
2316	FLNA	Short palm	HP:0004279
2316	FLNA	Natal tooth	HP:0000695
2316	FLNA	Abnormality of the coagulation cascade	HP:0003256
2316	FLNA	Abnormal oral frenulum morphology	HP:0000190
2316	FLNA	Cognitive impairment	HP:0100543
2316	FLNA	Persistence of primary teeth	HP:0006335
2316	FLNA	Kyphoscoliosis	HP:0002751
2316	FLNA	Postnatal growth retardation	HP:0008897
2316	FLNA	Antegonial notching of mandible	HP:0003779
2316	FLNA	Abdominal distention	HP:0003270
2316	FLNA	Pierre-Robin sequence	HP:0000201
2316	FLNA	Nail dystrophy	HP:0008404
2316	FLNA	Wrist flexion contracture	HP:0001239
2316	FLNA	Capitate-hamate fusion	HP:0001241
2316	FLNA	Tracheal stenosis	HP:0002777
2316	FLNA	Decreased antibody level in blood	HP:0004313
2316	FLNA	High palate	HP:0000218
2316	FLNA	Abnormality of neuronal migration	HP:0002269
2316	FLNA	Intellectual disability	HP:0001249
2316	FLNA	Seizures	HP:0001250
2316	FLNA	Short stature	HP:0004322
2316	FLNA	Talipes equinovarus	HP:0001762
2316	FLNA	Lipoatrophy	HP:0100578
2316	FLNA	Pes planus	HP:0001763
2316	FLNA	Intellectual disability, mild	HP:0001256
2316	FLNA	Spondylolysis	HP:0003304
2316	FLNA	Toe syndactyly	HP:0001770
2316	FLNA	Gray matter heterotopia	HP:0002282
2316	FLNA	Knee flexion contracture	HP:0006380
2316	FLNA	Rudimentary fibula	HP:0006381
2316	FLNA	Hydrocephalus	HP:0000238
2316	FLNA	Delayed speech and language development	HP:0000750
2316	FLNA	Global developmental delay	HP:0001263
2316	FLNA	Large fontanelles	HP:0000239
2316	FLNA	Spastic diplegia	HP:0001264
2316	FLNA	Abnormal form of the vertebral bodies	HP:0003312
2316	FLNA	Stillbirth	HP:0003826
2316	FLNA	Limited knee flexion	HP:0006389
2316	FLNA	Bulbous tips of toes	HP:0001782
2316	FLNA	Motor delay	HP:0001270
2316	FLNA	Ulnar deviation of finger	HP:0009465
2316	FLNA	Increased bone mineral density	HP:0011001
2316	FLNA	Radial deviation of the 2nd finger	HP:0009467
2316	FLNA	Long metacarpals	HP:0010493
2316	FLNA	Pectus excavatum	HP:0000767
2316	FLNA	Posterior vertebral hypoplasia	HP:0008451
2316	FLNA	Abnormality of the ribs	HP:0000772
2316	FLNA	Wide anterior fontanel	HP:0000260
2316	FLNA	Short ribs	HP:0000773
2316	FLNA	Narrow chest	HP:0000774
2316	FLNA	Gait disturbance	HP:0001288
2316	FLNA	Congenital diaphragmatic hernia	HP:0000776
2316	FLNA	Hip dislocation	HP:0002827
2316	FLNA	Multiple joint contractures	HP:0002828
2316	FLNA	Prominent occiput	HP:0000269
2316	FLNA	Delayed cranial suture closure	HP:0000270
2316	FLNA	Malar flattening	HP:0000272
2316	FLNA	Stroke	HP:0001297
2316	FLNA	Displacement of the urethral meatus	HP:0100627
2316	FLNA	Small face	HP:0000274
2316	FLNA	Coarse facial features	HP:0000280
2316	FLNA	Broad face	HP:0000283
2316	FLNA	Epicanthus	HP:0000286
2316	FLNA	Intestinal pseudo-obstruction	HP:0004389
2316	FLNA	Full cheeks	HP:0000293
2316	FLNA	Short toe	HP:0001831
2316	FLNA	Neonatal hypotonia	HP:0001319
2316	FLNA	Increased density of long bone diaphyses	HP:0006440
2316	FLNA	Long foot	HP:0001833
2316	FLNA	Genu valgum	HP:0002857
2316	FLNA	Cerebellar hypoplasia	HP:0001321
2316	FLNA	Hypoplasia of the musculature	HP:0009004
2316	FLNA	Camptodactyly of toe	HP:0001836
2316	FLNA	Rocker bottom foot	HP:0001838
2316	FLNA	Pointed chin	HP:0000307
2316	FLNA	Flared iliac wings	HP:0002869
2316	FLNA	Short 3rd metacarpal	HP:0010041
2316	FLNA	Abnormality of the tarsal bones	HP:0001850
2316	FLNA	Hypertelorism	HP:0000316
2316	FLNA	Sandal gap	HP:0001852
2316	FLNA	Short 4th metacarpal	HP:0010044
2316	FLNA	Short chordae tendineae of the mitral valve	HP:0011580
2316	FLNA	Overlapping fingers	HP:0010557
2316	FLNA	Respiratory failure	HP:0002878
2316	FLNA	Smooth philtrum	HP:0000319
2316	FLNA	Short 5th metacarpal	HP:0010047
2316	FLNA	Anisospondyly	HP:0002879
2316	FLNA	Vertical clivus	HP:0010559
2316	FLNA	Undulate clavicles	HP:0010560
2316	FLNA	Short metacarpal	HP:0010049
2316	FLNA	Ankle contracture	HP:0006466
2316	FLNA	Facial asymmetry	HP:0000324
2316	FLNA	Obtuse angle of mandible	HP:0005446
2316	FLNA	Broad hallux	HP:0010055
2316	FLNA	Toe clinodactyly	HP:0001863
2316	FLNA	Short chin	HP:0000331
2316	FLNA	Absent/hypoplastic paranasal sinuses	HP:0005453
2316	FLNA	Prominent supraorbital ridges	HP:0000336
2316	FLNA	Thrombocytopenia	HP:0001873
2316	FLNA	Broad forehead	HP:0000337
2316	FLNA	Abnormality of dental morphology	HP:0006482
2316	FLNA	Craniosynostosis	HP:0001363
2316	FLNA	Bowing of the long bones	HP:0006487
2316	FLNA	Micrognathia	HP:0000347
2316	FLNA	Congenital hip dislocation	HP:0001374
2316	FLNA	Limitation of joint mobility	HP:0001376
2316	FLNA	Limited elbow extension	HP:0001377
2316	FLNA	Posteriorly rotated ears	HP:0000358
2316	FLNA	Joint stiffness	HP:0001387
2316	FLNA	Hearing impairment	HP:0000365
2316	FLNA	Ureteral obstruction	HP:0006000
2316	FLNA	Low-set ears	HP:0000369
2316	FLNA	Hypoplastic scapulae	HP:0000882
2316	FLNA	Increased size of the mandible	HP:0040309
2316	FLNA	Fibroma	HP:0010614
2316	FLNA	Short distal phalanx of hallux	HP:0010103
2316	FLNA	Abnormality of the pinna	HP:0000377
2316	FLNA	Mesomelic leg shortening	HP:0004987
2316	FLNA	Short hallux	HP:0010109
2316	FLNA	Short clavicles	HP:0000894
2316	FLNA	Fused cervical vertebrae	HP:0002949
2316	FLNA	X-linked inheritance	HP:0001417
2316	FLNA	X-linked recessive inheritance	HP:0001419
2316	FLNA	Craniofacial hyperostosis	HP:0004493
2316	FLNA	X-linked dominant inheritance	HP:0001423
2316	FLNA	Macrotia	HP:0000400
2316	FLNA	Mesomelic arm shortening	HP:0005011
2316	FLNA	Abnormality of metabolism/homeostasis	HP:0001939
2316	FLNA	Recurrent otitis media	HP:0000403
2316	FLNA	Conductive hearing impairment	HP:0000405
2316	FLNA	Sensorineural hearing impairment	HP:0000407
2316	FLNA	Nonossified fifth metatarsal	HP:0008087
2316	FLNA	Proximal placement of thumb	HP:0009623
2316	FLNA	Abnormality of the fifth metatarsal bone	HP:0008089
2316	FLNA	Protruding ear	HP:0000411
2316	FLNA	Platyspondyly	HP:0000926
2316	FLNA	Partial fusion of tarsals	HP:0008097
2316	FLNA	Preaxial polydactyly	HP:0100258
2316	FLNA	Abnormal hand bone ossification	HP:0010660
2316	FLNA	Femoral bowing	HP:0002980
2316	FLNA	Tibial bowing	HP:0002982
2316	FLNA	Broad distal phalanx of the thumb	HP:0009642
2316	FLNA	Radial bowing	HP:0002986
2316	FLNA	Elbow flexion contracture	HP:0002987
2316	FLNA	Myelomeningocele	HP:0002475
2316	FLNA	Fibular aplasia	HP:0002990
2316	FLNA	Wide nasal bridge	HP:0000431
2316	FLNA	Abnormality of the metaphysis	HP:0000944
2316	FLNA	Short distal phalanx of the thumb	HP:0009650
2316	FLNA	Hypoplastic ilia	HP:0000946
2316	FLNA	Abnormal foot bone ossification	HP:0010675
2316	FLNA	Synostosis of carpal bones	HP:0005048
2316	FLNA	Bipartite calcaneus	HP:0008127
2316	FLNA	Delayed closure of the anterior fontanelle	HP:0001476
2316	FLNA	Long fingers	HP:0100807
2316	FLNA	Flared metaphysis	HP:0003015
2316	FLNA	Abnormal facial shape	HP:0001999
2316	FLNA	Large forehead	HP:0002003
2316	FLNA	Prominent forehead	HP:0011220
2316	FLNA	Urethral stenosis	HP:0008661
2316	FLNA	Frontal bossing	HP:0002007
2316	FLNA	Ulnar bowing	HP:0003031
2316	FLNA	Long neck	HP:0000472
2316	FLNA	Vomiting	HP:0002013
2316	FLNA	Lateral femoral bowing	HP:0005090
2316	FLNA	Elbow dislocation	HP:0003042
2316	FLNA	Constipation	HP:0002019
2316	FLNA	Failure to thrive	HP:0001508
2316	FLNA	Pyloric stenosis	HP:0002021
2316	FLNA	Strabismus	HP:0000486
2316	FLNA	Abnormality of skin pigmentation	HP:0001000
2316	FLNA	Malabsorption	HP:0002024
2316	FLNA	Downslanted palpebral fissures	HP:0000494
2316	FLNA	Hypotrichosis	HP:0001006
2316	FLNA	Underdeveloped superior crus of antihelix	HP:0011246
2316	FLNA	Hirsutism	HP:0001007
2316	FLNA	Accelerated skeletal maturation	HP:0005616
2316	FLNA	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
2316	FLNA	Short metatarsal	HP:0010743
2316	FLNA	Telecanthus	HP:0000506
2316	FLNA	Ptosis	HP:0000508
2317	FLNB	Pectus carinatum	HP:0000768
2317	FLNB	Abnormality of the radius	HP:0002818
2317	FLNB	Omphalocele	HP:0001539
2317	FLNB	Autosomal dominant inheritance	HP:0000006
2317	FLNB	Cataract	HP:0000518
2317	FLNB	Narrow chest	HP:0000774
2317	FLNB	Club-shaped proximal femur	HP:0006406
2317	FLNB	Short nail	HP:0001799
2317	FLNB	Autosomal recessive inheritance	HP:0000007
2317	FLNB	Abnormality of femur morphology	HP:0002823
2317	FLNB	C2-C3 subluxation	HP:0008456
2317	FLNB	Proptosis	HP:0000520
2317	FLNB	Distal tapering femur	HP:0006408
2317	FLNB	Hip dislocation	HP:0002827
2317	FLNB	Prominent occiput	HP:0000269
2317	FLNB	Malar flattening	HP:0000272
2317	FLNB	Abnormal cervical curvature	HP:0005905
2317	FLNB	Corneal opacity	HP:0007957
2317	FLNB	Absent humerus	HP:0003862
2317	FLNB	Abnormality of retinal pigmentation	HP:0007703
2317	FLNB	Midface retrusion	HP:0011800
2317	FLNB	Cervical segmentation defect	HP:0004632
2317	FLNB	Bowed humerus	HP:0003865
2317	FLNB	Polyhydramnios	HP:0001561
2317	FLNB	Short femur	HP:0003097
2317	FLNB	Broad face	HP:0000283
2317	FLNB	Cryptorchidism	HP:0000028
2317	FLNB	Encephalocele	HP:0002084
2317	FLNB	Broad thumb	HP:0011304
2317	FLNB	Abnormality of epiphysis morphology	HP:0005930
2317	FLNB	Restrictive ventilatory defect	HP:0002091
2317	FLNB	Respiratory insufficiency	HP:0002093
2317	FLNB	Aplasia/Hypoplasia of the lungs	HP:0006703
2317	FLNB	Laryngotracheomalacia	HP:0008755
2317	FLNB	Growth hormone deficiency	HP:0000824
2317	FLNB	Widened distal phalanges	HP:0006200
2317	FLNB	Hypertelorism	HP:0000316
2317	FLNB	Joint hyperflexibility	HP:0005692
2317	FLNB	Sandal gap	HP:0001852
2317	FLNB	Epiphyseal stippling of the humerus	HP:0003902
2317	FLNB	Short metacarpal	HP:0010049
2317	FLNB	Laryngeal stenosis	HP:0001602
2317	FLNB	Hypoplasia of the maxilla	HP:0000327
2317	FLNB	Shallow orbits	HP:0000586
2317	FLNB	Aortic aneurysm	HP:0004942
2317	FLNB	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
2317	FLNB	Flat face	HP:0012368
2317	FLNB	Craniosynostosis	HP:0001363
2317	FLNB	Abnormality of pelvic girdle bone morphology	HP:0002644
2317	FLNB	Premature birth	HP:0001622
2317	FLNB	Coronal cleft vertebrae	HP:0003417
2317	FLNB	Scoliosis	HP:0002650
2317	FLNB	Abnormality of the cardiovascular system	HP:0001626
2317	FLNB	Micrognathia	HP:0000347
2317	FLNB	Aplasia/Hypoplasia of the fibula	HP:0006492
2317	FLNB	Ventricular septal defect	HP:0001629
2317	FLNB	Vertebral segmentation defect	HP:0003422
2317	FLNB	Atrial septal defect	HP:0001631
2317	FLNB	Aplasia/Hypoplasia of the ulna	HP:0006495
2317	FLNB	Epiphyseal dysplasia	HP:0002656
2317	FLNB	Short tibia	HP:0005736
2317	FLNB	Renal cyst	HP:0000107
2317	FLNB	Joint laxity	HP:0001388
2317	FLNB	Broad distal phalanx of finger	HP:0009836
2317	FLNB	Flat acetabular roof	HP:0003180
2317	FLNB	11 pairs of ribs	HP:0000878
2317	FLNB	Knee dislocation	HP:0004976
2317	FLNB	Horizontal sacrum	HP:0003440
2317	FLNB	Clinodactyly of the 5th finger	HP:0004209
2317	FLNB	Hypoplastic iliac body	HP:0008824
2317	FLNB	Multinucleated giant chondrocytes in epiphyseal cartilage	HP:0030330
2317	FLNB	Short nose	HP:0003196
2317	FLNB	Spinal cord compression	HP:0002176
2317	FLNB	Preauricular skin tag	HP:0000384
2317	FLNB	Cervical kyphosis	HP:0002947
2317	FLNB	Brachydactyly	HP:0001156
2317	FLNB	Fused cervical vertebrae	HP:0002949
2317	FLNB	Absent radius	HP:0003974
2317	FLNB	Accessory carpal bones	HP:0004232
2317	FLNB	Thoracic hypoplasia	HP:0005257
2317	FLNB	Abnormality of the metacarpal bones	HP:0001163
2317	FLNB	Large joint dislocations	HP:0005008
2317	FLNB	Conductive hearing impairment	HP:0000405
2317	FLNB	Sensorineural hearing impairment	HP:0000407
2317	FLNB	Hypoplasia of dental enamel	HP:0006297
2317	FLNB	Dislocated wrist	HP:0003994
2317	FLNB	Mixed hearing impairment	HP:0000410
2317	FLNB	Short distal phalanx of finger	HP:0009882
2317	FLNB	Hypodontia	HP:0000668
2317	FLNB	Depressed nasal bridge	HP:0005280
2317	FLNB	Short humerus	HP:0005792
2317	FLNB	Sporadic	HP:0003745
2317	FLNB	Hand clenching	HP:0001188
2317	FLNB	Tibial bowing	HP:0002982
2317	FLNB	Micromelia	HP:0002983
2317	FLNB	Radial bowing	HP:0002986
2317	FLNB	Tombstone-shaped proximal phalanges	HP:0006060
2317	FLNB	Fibular aplasia	HP:0002990
2317	FLNB	Underdeveloped nasal alae	HP:0000430
2317	FLNB	Cleft palate	HP:0000175
2317	FLNB	Wide nasal bridge	HP:0000431
2317	FLNB	Tarsal synostosis	HP:0008368
2317	FLNB	Abnormality of tibia morphology	HP:0002992
2317	FLNB	Multiple carpal ossification centers	HP:0006067
2317	FLNB	Abnormality of the ulna	HP:0002997
2317	FLNB	Severe short stature	HP:0003510
2317	FLNB	Patellar dislocation	HP:0002999
2317	FLNB	Severe short-limb dwarfism	HP:0008890
2317	FLNB	Delayed skeletal maturation	HP:0002750
2317	FLNB	Bipartite calcaneus	HP:0008127
2317	FLNB	Disproportionate short-trunk short stature	HP:0003521
2317	FLNB	Clubbing	HP:0001217
2317	FLNB	Spatulate thumbs	HP:0001222
2317	FLNB	Broad nasal tip	HP:0000455
2317	FLNB	Rhizomelia	HP:0008905
2317	FLNB	Cleft upper lip	HP:0000204
2317	FLNB	Hitchhiker thumb	HP:0001234
2317	FLNB	Prominent forehead	HP:0011220
2317	FLNB	Finger syndactyly	HP:0006101
2317	FLNB	Short neck	HP:0000470
2317	FLNB	Frontal bossing	HP:0002007
2317	FLNB	Beaking of vertebral bodies	HP:0004568
2317	FLNB	Tracheal stenosis	HP:0002777
2317	FLNB	Capitate-hamate fusion	HP:0001241
2317	FLNB	High palate	HP:0000218
2317	FLNB	Tracheomalacia	HP:0002779
2317	FLNB	Bronchomalacia	HP:0002780
2317	FLNB	Short tubular bones of the hand	HP:0001248
2317	FLNB	Intellectual disability	HP:0001249
2317	FLNB	Vertebral hypoplasia	HP:0008417
2317	FLNB	Talipes equinovarus	HP:0001762
2317	FLNB	Elbow dislocation	HP:0003042
2317	FLNB	Short stature	HP:0004322
2317	FLNB	Spina bifida occulta	HP:0003298
2317	FLNB	Pes planus	HP:0001763
2317	FLNB	Neonatal death	HP:0003811
2317	FLNB	Carpal synostosis	HP:0009702
2317	FLNB	Intrauterine growth retardation	HP:0001511
2317	FLNB	Spondylolysis	HP:0003304
2317	FLNB	Block vertebrae	HP:0003305
2317	FLNB	Ulnar deviation of the wrist	HP:0003049
2317	FLNB	Hyperlordosis	HP:0003307
2317	FLNB	Talipes equinovalgus	HP:0001772
2317	FLNB	Hypoplasia of the odontoid process	HP:0003311
2317	FLNB	Global developmental delay	HP:0001263
2317	FLNB	Hypoplastic nasal septum	HP:0005104
2317	FLNB	Thoracic platyspondyly	HP:0004592
2317	FLNB	Club-shaped distal femur	HP:0006384
2317	FLNB	Hypoplastic cervical vertebrae	HP:0008434
2317	FLNB	Stillbirth	HP:0003826
2317	FLNB	Thoracolumbar kyphosis	HP:0005619
2317	FLNB	Short metatarsal	HP:0010743
2317	FLNB	Abnormality of the cervical spine	HP:0003319
2317	FLNB	Abnormality of the humerus	HP:0003063
2317	FLNB	Poorly ossified vertebrae	HP:0100856
2317	FLNB	Hydrops fetalis	HP:0001789
2317	FLNB	Pectus excavatum	HP:0000767
149775	GNAS-AS1	Low urinary cyclic AMP response to PTH administration	HP:0003456
149775	GNAS-AS1	Short metacarpal	HP:0010049
149775	GNAS-AS1	Sporadic	HP:0003745
149775	GNAS-AS1	Brachydactyly	HP:0001156
149775	GNAS-AS1	Pseudohypoparathyroidism	HP:0000852
149775	GNAS-AS1	Hypocalcemia	HP:0002901
149775	GNAS-AS1	Autosomal dominant inheritance	HP:0000006
149775	GNAS-AS1	Hyperphosphatemia	HP:0002905
149775	GNAS-AS1	Obesity	HP:0001513
149775	GNAS-AS1	Elevated circulating parathyroid hormone level	HP:0003165
2318	FLNC	Myofibrillar myopathy	HP:0003715
2318	FLNC	Autosomal dominant inheritance	HP:0000006
2318	FLNC	Muscle fiber cytoplasmatic inclusion bodies	HP:0100303
2318	FLNC	Waddling gait	HP:0002515
2318	FLNC	Abnormality of the calf musculature	HP:0001430
2318	FLNC	Slow progression	HP:0003677
2318	FLNC	Difficulty climbing stairs	HP:0003551
2318	FLNC	Muscle fiber splitting	HP:0003555
2318	FLNC	Congestive heart failure	HP:0001635
2318	FLNC	Elevated serum creatine kinase	HP:0003236
2318	FLNC	Cardiomyopathy	HP:0001638
2318	FLNC	Muscle weakness	HP:0001324
2318	FLNC	Distal upper limb amyotrophy	HP:0007149
2318	FLNC	Respiratory insufficiency	HP:0002093
2318	FLNC	Dyspnea	HP:0002094
2318	FLNC	Distal lower limb amyotrophy	HP:0008944
2318	FLNC	Hyporeflexia	HP:0001265
2318	FLNC	Mildly elevated creatine kinase	HP:0008180
2318	FLNC	Proximal muscle weakness	HP:0003701
2318	FLNC	Mitral regurgitation	HP:0001653
2318	FLNC	Atrial fibrillation	HP:0005110
2318	FLNC	Abnormal peripheral nervous system morphology	HP:0000759
2318	FLNC	Adult onset	HP:0003581
2318	FLNC	Myopathy	HP:0003198
2318	FLNC	Left atrial enlargement	HP:0031295
10512	SEMA3C	Weight loss	HP:0001824
10512	SEMA3C	Intellectual disability	HP:0001249
10512	SEMA3C	Nausea and vomiting	HP:0002017
10512	SEMA3C	Short stature	HP:0004322
10512	SEMA3C	Constipation	HP:0002019
10512	SEMA3C	Sepsis	HP:0100806
10512	SEMA3C	Abdominal pain	HP:0002027
10512	SEMA3C	Aganglionic megacolon	HP:0002251
10512	SEMA3C	Intestinal polyposis	HP:0200008
10512	SEMA3C	Sensorineural hearing impairment	HP:0000407
10512	SEMA3C	Failure to thrive in infancy	HP:0001531
10512	SEMA3C	Adducted thumb	HP:0001181
10512	SEMA3C	Diarrhea	HP:0002014
10512	SEMA3C	Intestinal obstruction	HP:0005214
10512	SEMA3C	Neoplasm of the thyroid gland	HP:0100031
51473	DCDC2	Bile duct proliferation	HP:0001408
51473	DCDC2	Hepatomegaly	HP:0002240
51473	DCDC2	Portal hypertension	HP:0001409
51473	DCDC2	Autosomal recessive inheritance	HP:0000007
51473	DCDC2	Infantile onset	HP:0003593
51473	DCDC2	Sclerosing cholangitis	HP:0030991
51473	DCDC2	Splenomegaly	HP:0001744
51473	DCDC2	Cirrhosis	HP:0001394
51473	DCDC2	Hepatic fibrosis	HP:0001395
51473	DCDC2	Cholestasis	HP:0001396
51473	DCDC2	Biliary cirrhosis	HP:0002613
51473	DCDC2	Sensorineural hearing impairment	HP:0000407
51473	DCDC2	Jaundice	HP:0000952
51473	DCDC2	Nephronophthisis	HP:0000090
51473	DCDC2	Progressive	HP:0003676
51473	DCDC2	Pruritus	HP:0000989
51473	DCDC2	Stage 5 chronic kidney disease	HP:0003774
51473	DCDC2	Elevated hepatic transaminase	HP:0002910
2322	FLT3	Acute lymphoblastic leukemia	HP:0006721
2322	FLT3	Somatic mutation	HP:0001428
2322	FLT3	Polygenic inheritance	HP:0010982
2322	FLT3	Autosomal dominant inheritance	HP:0000006
2322	FLT3	Acute myeloid leukemia	HP:0004808
51475	CABP2	Autosomal recessive inheritance	HP:0000007
51475	CABP2	Hearing impairment	HP:0000365
2324	FLT4	Hydrocele testis	HP:0000034
2324	FLT4	Urethral stricture	HP:0012227
2324	FLT4	Hemangioma	HP:0001028
2324	FLT4	Papilloma	HP:0012740
2324	FLT4	Abnormal toenail morphology	HP:0008388
2324	FLT4	Autosomal dominant inheritance	HP:0000006
2324	FLT4	Hypoplasia of lymphatic vessels	HP:0003759
2324	FLT4	Cellulitis	HP:0100658
2324	FLT4	Prominent superficial veins	HP:0001015
2324	FLT4	Hyperkeratosis over edematous areas	HP:0007448
2324	FLT4	Congenital onset	HP:0003577
2324	FLT4	Capillary hemangioma	HP:0005306
2324	FLT4	Predominantly lower limb lymphedema	HP:0003550
2324	FLT4	Nonimmune hydrops fetalis	HP:0001790
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	Overgrowth	HP:0001548
10516	FBLN5	Renal diverticulum	HP:0100877
10516	FBLN5	Arachnodactyly	HP:0001166
10516	FBLN5	Delayed cranial suture closure	HP:0000270
10516	FBLN5	Bladder diverticulum	HP:0000015
10516	FBLN5	Abnormality of the face	HP:0000271
10516	FBLN5	Atelectasis	HP:0100750
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	Recurrent respiratory infections	HP:0002205
10516	FBLN5	Supravalvular aortic stenosis	HP:0004381
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	Joint hyperflexibility	HP:0005692
10516	FBLN5	Hypertelorism	HP:0000316
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	Macular degeneration	HP:0000608
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	Ascending tubular aorta aneurysm	HP:0004970
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	Microcephaly	HP:0000252
10516	FBLN5	Ptosis	HP:0000508
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	Vestibular dysfunction	HP:0001751
10518	CIB2	Sensorineural hearing impairment	HP:0000407
10518	CIB2	Hemianopia	HP:0012377
10518	CIB2	Vestibular hypofunction	HP:0001756
10518	CIB2	Intellectual disability	HP:0001249
10518	CIB2	Hallucinations	HP:0000738
10518	CIB2	Ataxia	HP:0001251
10518	CIB2	Anxiety	HP:0000739
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
133396	IL31RA	Cutaneous amyloidosis	HP:0012309
133396	IL31RA	Autosomal dominant inheritance	HP:0000006
133396	IL31RA	Pruritus	HP:0000989
10519	CIB1	Palmar pits	HP:0010610
10519	CIB1	Epidermal acanthosis	HP:0025092
10519	CIB1	Squamous cell carcinoma	HP:0002860
10519	CIB1	Basal cell carcinoma	HP:0002671
2328	FMO3	Splenomegaly	HP:0001744
2328	FMO3	Tachycardia	HP:0001649
2328	FMO3	Neutropenia	HP:0001875
2328	FMO3	Recurrent pneumonia	HP:0006532
2328	FMO3	Hypertension	HP:0000822
2328	FMO3	Autosomal recessive inheritance	HP:0000007
2328	FMO3	Depressivity	HP:0000716
2328	FMO3	Trimethylaminuria	HP:0003614
2328	FMO3	Anemia	HP:0001903
10522	DEAF1	Brachydactyly	HP:0001156
10522	DEAF1	Chronic otitis media	HP:0000389
10522	DEAF1	Autosomal dominant inheritance	HP:0000006
10522	DEAF1	Autosomal recessive inheritance	HP:0000007
10522	DEAF1	Gait disturbance	HP:0001288
10522	DEAF1	Hand polydactyly	HP:0001161
10522	DEAF1	Infantile onset	HP:0003593
10522	DEAF1	Generalized hypotonia	HP:0001290
10522	DEAF1	Conductive hearing impairment	HP:0000405
10522	DEAF1	Decreased fetal movement	HP:0001558
10522	DEAF1	Midface retrusion	HP:0011800
10522	DEAF1	Synophrys	HP:0000664
10522	DEAF1	Hyperacusis	HP:0010780
10522	DEAF1	Retinal detachment	HP:0000541
10522	DEAF1	Recurrent infections	HP:0002719
10522	DEAF1	Impaired pain sensation	HP:0007328
10522	DEAF1	Depressed nasal bridge	HP:0005280
10522	DEAF1	Myopia	HP:0000545
10522	DEAF1	Taurodontia	HP:0000679
10522	DEAF1	Feeding difficulties in infancy	HP:0008872
10522	DEAF1	Delayed eruption of primary teeth	HP:0000680
10522	DEAF1	Cleft palate	HP:0000175
10522	DEAF1	Wide nasal bridge	HP:0000431
10522	DEAF1	Mandibular prognathia	HP:0000303
10522	DEAF1	EEG abnormality	HP:0002353
10522	DEAF1	Poor eye contact	HP:0000817
10522	DEAF1	Thick lower lip vermilion	HP:0000179
10522	DEAF1	Hypercholesterolemia	HP:0003124
10522	DEAF1	Tented upper lip vermilion	HP:0010804
10522	DEAF1	Hypothyroidism	HP:0000821
10522	DEAF1	Dyskinesia	HP:0100660
10522	DEAF1	Delayed puberty	HP:0000823
10522	DEAF1	Sleep disturbance	HP:0002360
10522	DEAF1	Precocious puberty	HP:0000826
10522	DEAF1	Hypertelorism	HP:0000316
10522	DEAF1	Abnormal localization of kidney	HP:0100542
10522	DEAF1	Absent speech	HP:0001344
10522	DEAF1	Sacral dimple	HP:0000960
10522	DEAF1	Short philtrum	HP:0000322
10522	DEAF1	Open mouth	HP:0000194
10522	DEAF1	Abnormality of the ureter	HP:0000069
10522	DEAF1	Upslanted palpebral fissure	HP:0000582
10522	DEAF1	Ventriculomegaly	HP:0002119
10522	DEAF1	Hoarse voice	HP:0001609
10522	DEAF1	Agitation	HP:0000713
10522	DEAF1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
10522	DEAF1	Cleft upper lip	HP:0000204
10522	DEAF1	Aggressive behavior	HP:0000718
10522	DEAF1	Anteverted nares	HP:0000463
10522	DEAF1	Mood swings	HP:0000720
10522	DEAF1	Broad forehead	HP:0000337
10522	DEAF1	Involuntary movements	HP:0004305
10522	DEAF1	Status epilepticus	HP:0002133
10522	DEAF1	Frontal bossing	HP:0002007
10522	DEAF1	Abnormality of cardiovascular system morphology	HP:0030680
10522	DEAF1	Scoliosis	HP:0002650
10522	DEAF1	Micrognathia	HP:0000347
10522	DEAF1	Horizontal eyebrow	HP:0011228
10522	DEAF1	Stereotypy	HP:0000733
10522	DEAF1	Intellectual disability	HP:0001249
10522	DEAF1	Short stature	HP:0004322
10522	DEAF1	Seizures	HP:0001250
10522	DEAF1	Microcornea	HP:0000482
10522	DEAF1	Anxiety	HP:0000739
10522	DEAF1	Constipation	HP:0002019
10522	DEAF1	Pes planus	HP:0001763
10522	DEAF1	Muscular hypotonia	HP:0001252
10522	DEAF1	Gastroesophageal reflux	HP:0002020
10522	DEAF1	Strabismus	HP:0000486
10522	DEAF1	Renal hypoplasia/aplasia	HP:0008678
10522	DEAF1	Abnormal tracheobronchial morphology	HP:0005607
10522	DEAF1	Corticospinal tract hypoplasia	HP:0007016
10522	DEAF1	Obesity	HP:0001513
10522	DEAF1	Toe syndactyly	HP:0001770
10522	DEAF1	Attention deficit hyperactivity disorder	HP:0007018
10522	DEAF1	Deeply set eye	HP:0000490
10522	DEAF1	Joint stiffness	HP:0001387
10522	DEAF1	Hypertriglyceridemia	HP:0002155
10522	DEAF1	Self-injurious behavior	HP:0100716
10522	DEAF1	Delayed speech and language development	HP:0000750
10522	DEAF1	Global developmental delay	HP:0001263
10522	DEAF1	Abnormal form of the vertebral bodies	HP:0003312
10522	DEAF1	Clinodactyly of the 5th finger	HP:0004209
10522	DEAF1	Hyporeflexia	HP:0001265
10522	DEAF1	Neurological speech impairment	HP:0002167
10522	DEAF1	Large face	HP:0100729
10522	DEAF1	Brachycephaly	HP:0000248
10522	DEAF1	Failure to thrive in infancy	HP:0001531
10522	DEAF1	Microcephaly	HP:0000252
10522	DEAF1	Short nose	HP:0003196
2332	FMR1	Macrocephaly	HP:0000256
2332	FMR1	Macroorchidism, postpubertal	HP:0002050
2332	FMR1	Gynecomastia	HP:0000771
2332	FMR1	Inertia	HP:0030216
2332	FMR1	Rigidity	HP:0002063
2332	FMR1	Premature ovarian insufficiency	HP:0008209
2332	FMR1	Gait ataxia	HP:0002066
2332	FMR1	Resting tremor	HP:0002322
2332	FMR1	Bradykinesia	HP:0002067
2332	FMR1	Narrow face	HP:0000275
2332	FMR1	Parkinsonism	HP:0001300
2332	FMR1	Long face	HP:0000276
2332	FMR1	Urinary incontinence	HP:0000020
2332	FMR1	Urinary bladder sphincter dysfunction	HP:0002839
2332	FMR1	Coarse facial features	HP:0000280
2332	FMR1	Dysdiadochokinesis	HP:0002075
2332	FMR1	Cryptorchidism	HP:0000028
2332	FMR1	Dysmetria	HP:0001310
2332	FMR1	Decreased testicular size	HP:0008734
2332	FMR1	Intention tremor	HP:0002080
2332	FMR1	Impotence	HP:0000802
2332	FMR1	Intellectual disability, moderate	HP:0002342
2332	FMR1	Mask-like facies	HP:0000298
2332	FMR1	Muscle weakness	HP:0001324
2332	FMR1	Abnormal autonomic nervous system physiology	HP:0012332
2332	FMR1	Bowel incontinence	HP:0002607
2332	FMR1	Mandibular prognathia	HP:0000303
2332	FMR1	Poor eye contact	HP:0000817
2332	FMR1	Memory impairment	HP:0002354
2332	FMR1	Hypothyroidism	HP:0000821
2332	FMR1	Macroorchidism	HP:0000053
2332	FMR1	Hypertension	HP:0000822
2332	FMR1	Hypotension	HP:0002615
2332	FMR1	Abnormality of brainstem morphology	HP:0002363
2332	FMR1	Obsessive-compulsive trait	HP:0008770
2332	FMR1	Increased circulating gonadotropin level	HP:0000837
2332	FMR1	Cerebral cortical atrophy	HP:0002120
2332	FMR1	High pitched voice	HP:0001620
2332	FMR1	Scoliosis	HP:0002650
2332	FMR1	Menstrual irregularities	HP:0000858
2332	FMR1	Mitral valve prolapse	HP:0001634
2332	FMR1	Poor fine motor coordination	HP:0007010
2332	FMR1	Ascending tubular aorta aneurysm	HP:0004970
2332	FMR1	Attention deficit hyperactivity disorder	HP:0007018
2332	FMR1	Joint laxity	HP:0001388
2332	FMR1	Hearing impairment	HP:0000365
2332	FMR1	Self-injurious behavior	HP:0100716
2332	FMR1	Small hand	HP:0200055
2332	FMR1	Neurological speech impairment	HP:0002167
2332	FMR1	Postural tremor	HP:0002174
2332	FMR1	Nystagmus	HP:0000639
2332	FMR1	Saccadic smooth pursuit	HP:0001152
2332	FMR1	Chronic otitis media	HP:0000389
2332	FMR1	Hypogonadism	HP:0000135
2332	FMR1	X-linked inheritance	HP:0001417
2332	FMR1	Impaired tandem gait	HP:0031629
2332	FMR1	X-linked dominant inheritance	HP:0001423
2332	FMR1	Macrotia	HP:0000400
2332	FMR1	Abnormality of metabolism/homeostasis	HP:0001939
2332	FMR1	Abnormal head movements	HP:0002457
2332	FMR1	Protruding ear	HP:0000411
2332	FMR1	Bulbous nose	HP:0000414
2332	FMR1	Pollakisuria	HP:0100515
2332	FMR1	Truncal obesity	HP:0001956
2332	FMR1	Diffuse cerebellar atrophy	HP:0100275
2332	FMR1	Sparse body hair	HP:0002231
2332	FMR1	Delayed skeletal maturation	HP:0002750
2332	FMR1	Congenital macroorchidism	HP:0008640
2332	FMR1	Diffuse cerebral atrophy	HP:0002506
2332	FMR1	Depressivity	HP:0000716
2332	FMR1	Autism	HP:0000717
2332	FMR1	Obsessive-compulsive behavior	HP:0000722
2332	FMR1	Large forehead	HP:0002003
2332	FMR1	Dementia	HP:0000726
2332	FMR1	Frontal bossing	HP:0002007
2332	FMR1	Disinhibition	HP:0000734
2332	FMR1	Dysphagia	HP:0002015
2332	FMR1	Seizures	HP:0001250
2332	FMR1	Short stature	HP:0004322
2332	FMR1	Anxiety	HP:0000739
2332	FMR1	Pes planus	HP:0001763
2332	FMR1	Failure to thrive	HP:0001508
2332	FMR1	Muscular hypotonia	HP:0001252
2332	FMR1	Gastroesophageal reflux	HP:0002020
2332	FMR1	Impaired distal vibration sensation	HP:0006886
2332	FMR1	Strabismus	HP:0000486
2332	FMR1	Intrauterine growth retardation	HP:0001511
2332	FMR1	Intellectual disability, mild	HP:0001256
2332	FMR1	Thin vermilion border	HP:0000233
2332	FMR1	Deeply set eye	HP:0000490
2332	FMR1	Dysarthria	HP:0001260
2332	FMR1	Folate-dependent fragile site at Xq28	HP:0003564
2332	FMR1	Short foot	HP:0001773
2332	FMR1	Global developmental delay	HP:0001263
2332	FMR1	Hyperactivity	HP:0000752
2332	FMR1	Hyporeflexia	HP:0001265
2332	FMR1	Incomplete penetrance	HP:0003829
2332	FMR1	Dysesthesia	HP:0012534
2332	FMR1	Sinusitis	HP:0000246
2332	FMR1	Cerebellar atrophy	HP:0001272
2332	FMR1	Periventricular heterotopia	HP:0007165
2332	FMR1	Adult onset	HP:0003581
2332	FMR1	Myalgia	HP:0003326
2332	FMR1	Pectus excavatum	HP:0000767
10525	HYOU1	Autosomal recessive inheritance	HP:0000007
10525	HYOU1	Malabsorption	HP:0002024
10525	HYOU1	Death in childhood	HP:0003819
10525	HYOU1	Oval face	HP:0000300
10525	HYOU1	Recurrent skin infections	HP:0001581
10525	HYOU1	Wide nasal bridge	HP:0000431
10525	HYOU1	Narrow face	HP:0000275
10525	HYOU1	Leukocytosis	HP:0001974
10525	HYOU1	Decreased antibody level in blood	HP:0004313
10525	HYOU1	Granulocytopenia	HP:0001913
10525	HYOU1	High palate	HP:0000218
10525	HYOU1	Acne inversa	HP:0040154
10525	HYOU1	Micrognathia	HP:0000347
10525	HYOU1	Diarrhea	HP:0002014
2334	AFF2	Hyperactivity	HP:0000752
2334	AFF2	Intellectual disability	HP:0001249
2334	AFF2	Obsessive-compulsive behavior	HP:0000722
2334	AFF2	Abnormality of metabolism/homeostasis	HP:0001939
2334	AFF2	Impulsivity	HP:0100710
2334	AFF2	Agitation	HP:0000713
2334	AFF2	X-linked inheritance	HP:0001417
2334	AFF2	Prominent nasal bridge	HP:0000426
2334	AFF2	X-linked recessive inheritance	HP:0001419
2334	AFF2	Delayed speech and language development	HP:0000750
2334	AFF2	Aggressive behavior	HP:0000718
2334	AFF2	Epicanthus	HP:0000286
2335	FN1	Hypoalbuminemia	HP:0003073
2335	FN1	Short femoral neck	HP:0100864
2335	FN1	Recurrent fractures	HP:0002757
2335	FN1	Autosomal dominant inheritance	HP:0000006
2335	FN1	Abnormality of the wrist	HP:0003019
2335	FN1	Renal cell carcinoma	HP:0005584
2335	FN1	Metaphyseal irregularity	HP:0003025
2335	FN1	Renal insufficiency	HP:0000083
2335	FN1	Waddling gait	HP:0002515
2335	FN1	Glomerulopathy	HP:0100820
2335	FN1	Scoliosis	HP:0002650
2335	FN1	Genu varum	HP:0002970
2335	FN1	Microscopic hematuria	HP:0002907
2335	FN1	Proteinuria	HP:0000093
2335	FN1	Slow progression	HP:0003677
2335	FN1	Spondylometaphyseal dysplasia	HP:0002657
2335	FN1	Short stature	HP:0004322
2335	FN1	Pes planus	HP:0001763
2335	FN1	Nephrotic syndrome	HP:0000100
2335	FN1	Tetralogy of Fallot	HP:0001636
2335	FN1	Ovoid vertebral bodies	HP:0003300
2335	FN1	Micromelia	HP:0002983
2335	FN1	Genu valgum	HP:0002857
2335	FN1	Hyperlordosis	HP:0003307
2335	FN1	Mesangial abnormality	HP:0001966
2335	FN1	Mild short stature	HP:0003502
2335	FN1	Hypoplasia of the odontoid process	HP:0003311
2335	FN1	Generalized distal tubular acidosis	HP:0004916
2335	FN1	Pedal edema	HP:0010741
2335	FN1	Hypertension	HP:0000822
2335	FN1	Kyphosis	HP:0002808
2335	FN1	Hyperconvex vertebral body endplates	HP:0004603
2335	FN1	Coxa vara	HP:0002812
2335	FN1	Cerebral hemorrhage	HP:0001342
2335	FN1	Stage 5 chronic kidney disease	HP:0003774
10528	NOP56	Skeletal muscle atrophy	HP:0003202
10528	NOP56	Slow saccadic eye movements	HP:0000514
10528	NOP56	Hyperreflexia	HP:0001347
10528	NOP56	Autosomal dominant inheritance	HP:0000006
10528	NOP56	Incoordination	HP:0002311
10528	NOP56	Hand tremor	HP:0002378
10528	NOP56	Diplopia	HP:0000651
10528	NOP56	Vertigo	HP:0002321
10528	NOP56	Gait ataxia	HP:0002066
10528	NOP56	Limb ataxia	HP:0002070
10528	NOP56	Loss of Purkinje cells in the cerebellar vermis	HP:0007001
10528	NOP56	Progressive	HP:0003676
10528	NOP56	Impaired smooth pursuit	HP:0007772
10528	NOP56	Tongue fasciculations	HP:0001308
10528	NOP56	Migraine	HP:0002076
10528	NOP56	Limb myoclonus	HP:0045084
10528	NOP56	Truncal ataxia	HP:0002078
10528	NOP56	Dysmetria	HP:0001310
10528	NOP56	Dysphagia	HP:0002015
10528	NOP56	Babinski sign	HP:0003487
10528	NOP56	Intention tremor	HP:0002080
10528	NOP56	Muscular hypotonia	HP:0001252
10528	NOP56	Head tremor	HP:0002346
10528	NOP56	Attention deficit hyperactivity disorder	HP:0007018
10528	NOP56	Muscle weakness	HP:0001324
10528	NOP56	Dysarthria	HP:0001260
10528	NOP56	Hearing impairment	HP:0000365
10528	NOP56	Blurred vision	HP:0000622
10528	NOP56	Bowel incontinence	HP:0002607
10528	NOP56	Difficulty walking	HP:0002355
10528	NOP56	EMG: neuropathic changes	HP:0003445
10528	NOP56	Cerebellar atrophy	HP:0001272
10528	NOP56	Tongue atrophy	HP:0012473
10528	NOP56	Ptosis	HP:0000508
10528	NOP56	Hypertonia	HP:0001276
10528	NOP56	Vertical supranuclear gaze palsy	HP:0000511
10528	NOP56	Nystagmus	HP:0000639
10529	NEBL	EMG abnormality	HP:0003457
10529	NEBL	Abnormality of neutrophils	HP:0001874
10529	NEBL	Lipoatrophy	HP:0100578
10529	NEBL	Elevated serum creatine kinase	HP:0003236
10529	NEBL	Palmoplantar keratoderma	HP:0000982
10529	NEBL	Sensorineural hearing impairment	HP:0000407
10529	NEBL	Dilated cardiomyopathy	HP:0001644
10529	NEBL	Myopathy	HP:0003198
10535	RNASEH2A	Myositis	HP:0100614
10535	RNASEH2A	Autosomal recessive inheritance	HP:0000007
10535	RNASEH2A	Spastic paraparesis	HP:0002313
10535	RNASEH2A	Infantile onset	HP:0003593
10535	RNASEH2A	Intellectual disability, profound	HP:0002187
10535	RNASEH2A	Headache	HP:0002315
10535	RNASEH2A	Cerebral atrophy	HP:0002059
10535	RNASEH2A	Multifocal cerebral white matter abnormalities	HP:0007052
10535	RNASEH2A	Multiple joint contractures	HP:0002828
10535	RNASEH2A	Autoimmunity	HP:0002960
10535	RNASEH2A	Increased serum interferon-gamma level	HP:0030356
10535	RNASEH2A	Hemiplegia/hemiparesis	HP:0004374
10535	RNASEH2A	Hepatosplenomegaly	HP:0001433
10535	RNASEH2A	Brain atrophy	HP:0012444
10535	RNASEH2A	Hypoplasia of the corpus callosum	HP:0002079
10535	RNASEH2A	Raynaud phenomenon	HP:0030880
10535	RNASEH2A	Unexplained fevers	HP:0001955
10535	RNASEH2A	Extrapyramidal muscular rigidity	HP:0007076
10535	RNASEH2A	Acrocyanosis	HP:0001063
10535	RNASEH2A	Chronic lymphatic leukemia	HP:0005550
10535	RNASEH2A	Difficulty walking	HP:0002355
10535	RNASEH2A	Prolonged neonatal jaundice	HP:0006579
10535	RNASEH2A	Diabetes mellitus	HP:0000819
10535	RNASEH2A	Dystonia	HP:0001332
10535	RNASEH2A	Hypothyroidism	HP:0000821
10535	RNASEH2A	Micropenis	HP:0000054
10535	RNASEH2A	Tremor	HP:0001337
10535	RNASEH2A	Moyamoya phenomenon	HP:0011834
10535	RNASEH2A	Convex nasal ridge	HP:0000444
10535	RNASEH2A	Dry skin	HP:0000958
10535	RNASEH2A	Developmental glaucoma	HP:0001087
10535	RNASEH2A	Hepatomegaly	HP:0002240
10535	RNASEH2A	Feeding difficulties	HP:0011968
10535	RNASEH2A	Loss of speech	HP:0002371
10535	RNASEH2A	Demyelinating peripheral neuropathy	HP:0007108
10535	RNASEH2A	Cutis marmorata	HP:0000965
10535	RNASEH2A	Ventriculomegaly	HP:0002119
10535	RNASEH2A	Developmental regression	HP:0002376
10535	RNASEH2A	Neonatal alloimmune thrombocytopenia	HP:0004809
10535	RNASEH2A	Hoarse voice	HP:0001609
10535	RNASEH2A	Panniculitis	HP:0012490
10535	RNASEH2A	Degeneration of the striatum	HP:0040140
10535	RNASEH2A	Plagiocephaly	HP:0001357
10535	RNASEH2A	Aortic aneurysm	HP:0004942
10535	RNASEH2A	Spastic tetraplegia	HP:0002510
10535	RNASEH2A	Splenomegaly	HP:0001744
10535	RNASEH2A	Severe global developmental delay	HP:0011344
10535	RNASEH2A	Thrombocytopenia	HP:0001873
10535	RNASEH2A	Cerebral calcification	HP:0002514
10535	RNASEH2A	Porencephalic cyst	HP:0002132
10535	RNASEH2A	Pancytopenia	HP:0001876
10535	RNASEH2A	Enchondroma	HP:0030038
10535	RNASEH2A	CSF lymphocytic pleiocytosis	HP:0200149
10535	RNASEH2A	Abnormal pyramidal sign	HP:0007256
10535	RNASEH2A	Arthritis	HP:0001369
10535	RNASEH2A	Scoliosis	HP:0002650
10535	RNASEH2A	Arrhinencephaly	HP:0002139
10535	RNASEH2A	Elevated hepatic transaminase	HP:0002910
10535	RNASEH2A	Muscle stiffness	HP:0003552
10535	RNASEH2A	Irritability	HP:0000737
10535	RNASEH2A	Short stature	HP:0004322
10535	RNASEH2A	Seizures	HP:0001250
10535	RNASEH2A	Large beaked nose	HP:0003683
10535	RNASEH2A	Calcification of the aorta	HP:0004963
10535	RNASEH2A	Lipoatrophy	HP:0100578
10535	RNASEH2A	Hypertrophic cardiomyopathy	HP:0001639
10535	RNASEH2A	Intrauterine growth retardation	HP:0001511
10535	RNASEH2A	Chronic CSF lymphocytosis	HP:0009704
10535	RNASEH2A	Cardiomegaly	HP:0001640
10535	RNASEH2A	Muscular hypotonia of the trunk	HP:0008936
10535	RNASEH2A	Spasticity	HP:0001257
10535	RNASEH2A	Death in childhood	HP:0003819
10535	RNASEH2A	Increased CSF interferon alpha	HP:0009709
10535	RNASEH2A	Chilblains	HP:0009710
10535	RNASEH2A	Hydrocephalus	HP:0000238
10535	RNASEH2A	Leukodystrophy	HP:0002415
10535	RNASEH2A	Global developmental delay	HP:0001263
10535	RNASEH2A	Low-set ears	HP:0000369
10535	RNASEH2A	Eyelid coloboma	HP:0000625
10535	RNASEH2A	Cerebellar atrophy	HP:0001272
10535	RNASEH2A	Ptosis	HP:0000508
10535	RNASEH2A	Microcephaly	HP:0000252
10535	RNASEH2A	Progressive microcephaly	HP:0000253
10535	RNASEH2A	Nystagmus	HP:0000639
493856	CISD2	Impaired collagen-induced platelet aggregation	HP:0008320
493856	CISD2	Autosomal recessive inheritance	HP:0000007
493856	CISD2	Cerebral cortical atrophy	HP:0002120
493856	CISD2	Optic atrophy	HP:0000648
493856	CISD2	Developmental regression	HP:0002376
493856	CISD2	Recurrent urinary tract infections	HP:0000010
493856	CISD2	Depressivity	HP:0000716
493856	CISD2	Dementia	HP:0000726
493856	CISD2	Sensorineural hearing impairment	HP:0000407
493856	CISD2	Ophthalmoplegia	HP:0000602
493856	CISD2	Male hypogonadism	HP:0000026
493856	CISD2	Gastric ulcer	HP:0002592
493856	CISD2	Intellectual disability	HP:0001249
493856	CISD2	Hallucinations	HP:0000738
493856	CISD2	Seizures	HP:0001250
493856	CISD2	Ataxia	HP:0001251
493856	CISD2	Constipation	HP:0002019
493856	CISD2	Abnormal bleeding	HP:0001892
493856	CISD2	Peripheral neuropathy	HP:0009830
493856	CISD2	Cardiomyopathy	HP:0001638
493856	CISD2	Polydipsia	HP:0001959
493856	CISD2	Dysuria	HP:0100518
493856	CISD2	Malabsorption	HP:0002024
493856	CISD2	Feeding difficulties in infancy	HP:0008872
493856	CISD2	Diabetes insipidus	HP:0000873
493856	CISD2	Joint stiffness	HP:0001387
493856	CISD2	Abnormal autonomic nervous system physiology	HP:0012332
493856	CISD2	Dysarthria	HP:0001260
493856	CISD2	Respiratory insufficiency	HP:0002093
493856	CISD2	Anemia	HP:0001903
493856	CISD2	Nephropathy	HP:0000112
493856	CISD2	Abnormality of mesentery morphology	HP:0100016
493856	CISD2	Optic neuropathy	HP:0001138
493856	CISD2	Diabetes mellitus	HP:0000819
493856	CISD2	Glaucoma	HP:0000501
493856	CISD2	Central apnea	HP:0002871
493856	CISD2	Delayed puberty	HP:0000823
493856	CISD2	Sleep disturbance	HP:0002360
493856	CISD2	Myopathy	HP:0003198
493856	CISD2	Gastrointestinal hemorrhage	HP:0002239
493856	CISD2	Nystagmus	HP:0000639
256297	PTF1A	Pectus carinatum	HP:0000768
256297	PTF1A	Aplasia/Hypoplasia of the pancreas	HP:0100800
256297	PTF1A	Hyperglycemia	HP:0003074
256297	PTF1A	Triangular face	HP:0000325
256297	PTF1A	Autosomal recessive inheritance	HP:0000007
256297	PTF1A	Steatorrhea	HP:0002570
256297	PTF1A	Short chin	HP:0000331
256297	PTF1A	Secundum atrial septal defect	HP:0001684
256297	PTF1A	Hypoglycemia	HP:0001943
256297	PTF1A	Neonatal insulin-dependent diabetes mellitus	HP:0000857
256297	PTF1A	Optic nerve hypoplasia	HP:0000609
256297	PTF1A	Cerebellar agenesis	HP:0012642
256297	PTF1A	Seizures	HP:0001250
256297	PTF1A	Pancreatic hypoplasia	HP:0002594
256297	PTF1A	Failure to thrive	HP:0001508
256297	PTF1A	Cerebellar hypoplasia	HP:0001321
256297	PTF1A	Joint stiffness	HP:0001387
256297	PTF1A	Reduced subcutaneous adipose tissue	HP:0003758
256297	PTF1A	Small for gestational age	HP:0001518
256297	PTF1A	Low-set ears	HP:0000369
256297	PTF1A	Hyporeflexia	HP:0001265
256297	PTF1A	Death in infancy	HP:0001522
256297	PTF1A	Diabetes mellitus	HP:0000819
256297	PTF1A	Apnea	HP:0002104
256297	PTF1A	Abnormality of the pinna	HP:0000377
256297	PTF1A	Convex nasal ridge	HP:0000444
256297	PTF1A	Microcephaly	HP:0000252
256297	PTF1A	Overlapping fingers	HP:0010557
2348	FOLR1	Intellectual disability	HP:0001249
2348	FOLR1	Seizures	HP:0001250
2348	FOLR1	Neurodegeneration	HP:0002180
2348	FOLR1	Autosomal recessive inheritance	HP:0000007
2348	FOLR1	Developmental regression	HP:0002376
51501	HIKESHI	Delayed myelination	HP:0012448
51501	HIKESHI	Absent speech	HP:0001344
51501	HIKESHI	Feeding difficulties	HP:0011968
51501	HIKESHI	Ataxia	HP:0001251
51501	HIKESHI	Failure to thrive	HP:0001508
51501	HIKESHI	Autosomal recessive inheritance	HP:0000007
51501	HIKESHI	Optic atrophy	HP:0000648
51501	HIKESHI	Spasticity	HP:0001257
51501	HIKESHI	Infantile onset	HP:0003593
51501	HIKESHI	Generalized hypotonia	HP:0001290
51501	HIKESHI	Global developmental delay	HP:0001263
51501	HIKESHI	Leukodystrophy	HP:0002415
51501	HIKESHI	Abnormality of the periventricular white matter	HP:0002518
51501	HIKESHI	Visual impairment	HP:0000505
51501	HIKESHI	Clonus	HP:0002169
51501	HIKESHI	Flexion contracture	HP:0001371
51501	HIKESHI	Nystagmus	HP:0000639
2353	FOS	Skeletal muscle hypertrophy	HP:0003712
2353	FOS	Abnormal circulating creatine kinase concentration	HP:0040081
2353	FOS	Polycystic ovaries	HP:0000147
2353	FOS	Large hands	HP:0001176
2353	FOS	Exercise-induced myalgia	HP:0003738
2353	FOS	Bone cyst	HP:0012062
2353	FOS	Recurrent infections	HP:0002719
2353	FOS	Decreased circulating IgA level	HP:0002720
2353	FOS	Immunodeficiency	HP:0002721
2353	FOS	Abnormal oral cavity morphology	HP:0000163
2353	FOS	Palpitations	HP:0001962
2353	FOS	Osteopenia	HP:0000938
2353	FOS	Osteoporosis	HP:0000939
2353	FOS	Pulmonary arterial hypertension	HP:0002092
2353	FOS	Mandibular prognathia	HP:0000303
2353	FOS	Ventricular hypertrophy	HP:0001714
2353	FOS	Loss of subcutaneous adipose tissue in limbs	HP:0003635
2353	FOS	Diabetes mellitus	HP:0000819
2353	FOS	Abnormality of skeletal muscle fiber size	HP:0012084
2353	FOS	Generalized hirsutism	HP:0002230
2353	FOS	Growth hormone deficiency	HP:0000824
2353	FOS	Precocious puberty	HP:0000826
2353	FOS	Acanthosis nigricans	HP:0000956
2353	FOS	Atherosclerosis	HP:0002621
2353	FOS	Delayed skeletal maturation	HP:0002750
2353	FOS	Hepatomegaly	HP:0002240
2353	FOS	Prolonged QTc interval	HP:0005184
2353	FOS	Arterial stenosis	HP:0100545
2353	FOS	Pancreatitis	HP:0001733
2353	FOS	Recurrent fractures	HP:0002757
2353	FOS	Ventriculomegaly	HP:0002119
2353	FOS	Hyperinsulinemia	HP:0000842
2353	FOS	Growth hormone excess	HP:0000845
2353	FOS	Hyperhidrosis	HP:0000975
2353	FOS	Prominent supraorbital ridges	HP:0000336
2353	FOS	Splenomegaly	HP:0001744
2353	FOS	Renal insufficiency	HP:0000083
2353	FOS	Glomerulopathy	HP:0100820
2353	FOS	Atlantoaxial dislocation	HP:0003414
2353	FOS	Insulin resistance	HP:0000855
2353	FOS	Scoliosis	HP:0002650
2353	FOS	Flexion contracture	HP:0001371
2353	FOS	Elevated hepatic transaminase	HP:0002910
2353	FOS	Muscle stiffness	HP:0003552
2353	FOS	Intellectual disability	HP:0001249
2353	FOS	Lipoatrophy	HP:0100578
2353	FOS	Congestive heart failure	HP:0001635
2353	FOS	Failure to thrive	HP:0001508
2353	FOS	Pyloric stenosis	HP:0002021
2353	FOS	Secondary amenorrhea	HP:0000869
2353	FOS	Peripheral neuropathy	HP:0009830
2353	FOS	Hypertrophic cardiomyopathy	HP:0001639
2353	FOS	Abnormality of skin pigmentation	HP:0001000
2353	FOS	Broad foot	HP:0001769
2353	FOS	Spinal rigidity	HP:0003306
2353	FOS	Hyperlordosis	HP:0003307
2353	FOS	Hypertriglyceridemia	HP:0002155
2353	FOS	Oligomenorrhea	HP:0000876
2353	FOS	Nephropathy	HP:0000112
2353	FOS	Accelerated skeletal maturation	HP:0005616
2353	FOS	Progressive proximal muscle weakness	HP:0009073
2353	FOS	Cirrhosis	HP:0001394
2353	FOS	Hepatic steatosis	HP:0001397
2353	FOS	Atrial fibrillation	HP:0005110
2353	FOS	Hepatic failure	HP:0001399
2353	FOS	Myocardial infarction	HP:0001658
2353	FOS	Myopathy	HP:0003198
2353	FOS	Bradycardia	HP:0001662
2353	FOS	Dysmenorrhea	HP:0100607
51506	UFC1	Intention tremor	HP:0002080
51506	UFC1	Feeding difficulties	HP:0011968
51506	UFC1	Delayed myelination	HP:0012448
51506	UFC1	Absent speech	HP:0001344
51506	UFC1	Intellectual disability	HP:0001249
51506	UFC1	Seizures	HP:0001250
51506	UFC1	Constipation	HP:0002019
51506	UFC1	Failure to thrive	HP:0001508
51506	UFC1	Abnormality of the cerebral white matter	HP:0002500
51506	UFC1	Growth delay	HP:0001510
51506	UFC1	Spasticity	HP:0001257
51506	UFC1	Oculomotor apraxia	HP:0000657
51506	UFC1	Poor head control	HP:0002421
51506	UFC1	Clonus	HP:0002169
10555	AGPAT2	Skeletal muscle hypertrophy	HP:0003712
10555	AGPAT2	Umbilical hernia	HP:0001537
10555	AGPAT2	Generalized muscular appearance from birth	HP:0003716
10555	AGPAT2	Autosomal recessive inheritance	HP:0000007
10555	AGPAT2	Prominent umbilicus	HP:0001544
10555	AGPAT2	Macrotia	HP:0000400
10555	AGPAT2	Abnormal circulating creatine kinase concentration	HP:0040081
10555	AGPAT2	Heterogeneous	HP:0001425
10555	AGPAT2	Cystic angiomatosis of bone	HP:0002833
10555	AGPAT2	Polycystic ovaries	HP:0000147
10555	AGPAT2	Nephrolithiasis	HP:0000787
10555	AGPAT2	Large hands	HP:0001176
10555	AGPAT2	Exercise-induced myalgia	HP:0003738
10555	AGPAT2	Bone cyst	HP:0012062
10555	AGPAT2	Recurrent infections	HP:0002719
10555	AGPAT2	Polyphagia	HP:0002591
10555	AGPAT2	Decreased circulating IgA level	HP:0002720
10555	AGPAT2	Immunodeficiency	HP:0002721
10555	AGPAT2	Abnormal oral cavity morphology	HP:0000163
10555	AGPAT2	Lipodystrophy	HP:0009125
10555	AGPAT2	Reduced intraabdominal adipose tissue	HP:0025128
10555	AGPAT2	Long foot	HP:0001833
10555	AGPAT2	Palpitations	HP:0001962
10555	AGPAT2	Osteopenia	HP:0000938
10555	AGPAT2	Osteoporosis	HP:0000939
10555	AGPAT2	Pulmonary arterial hypertension	HP:0002092
10555	AGPAT2	Reduced subcutaneous adipose tissue	HP:0003758
10555	AGPAT2	Mandibular prognathia	HP:0000303
10555	AGPAT2	Ventricular hypertrophy	HP:0001714
10555	AGPAT2	Loss of subcutaneous adipose tissue in limbs	HP:0003635
10555	AGPAT2	Diabetes mellitus	HP:0000819
10555	AGPAT2	Abnormality of skeletal muscle fiber size	HP:0012084
10555	AGPAT2	Generalized hirsutism	HP:0002230
10555	AGPAT2	Growth hormone deficiency	HP:0000824
10555	AGPAT2	Precocious puberty	HP:0000826
10555	AGPAT2	Acanthosis nigricans	HP:0000956
10555	AGPAT2	Atherosclerosis	HP:0002621
10555	AGPAT2	Delayed skeletal maturation	HP:0002750
10555	AGPAT2	Hepatomegaly	HP:0002240
10555	AGPAT2	Prolonged QTc interval	HP:0005184
10555	AGPAT2	Arterial stenosis	HP:0100545
10555	AGPAT2	Labial hypertrophy	HP:0000065
10555	AGPAT2	Pancreatitis	HP:0001733
10555	AGPAT2	Recurrent fractures	HP:0002757
10555	AGPAT2	Triangular face	HP:0000325
10555	AGPAT2	Ventriculomegaly	HP:0002119
10555	AGPAT2	Acute pancreatitis	HP:0001735
10555	AGPAT2	Hyperinsulinemia	HP:0000842
10555	AGPAT2	Growth hormone excess	HP:0000845
10555	AGPAT2	Hyperhidrosis	HP:0000975
10555	AGPAT2	Prominent supraorbital ridges	HP:0000336
10555	AGPAT2	Splenomegaly	HP:0001744
10555	AGPAT2	Renal insufficiency	HP:0000083
10555	AGPAT2	Glomerulopathy	HP:0100820
10555	AGPAT2	Atlantoaxial dislocation	HP:0003414
10555	AGPAT2	Insulin resistance	HP:0000855
10555	AGPAT2	Clitoral hypertrophy	HP:0008665
10555	AGPAT2	Scoliosis	HP:0002650
10555	AGPAT2	Flexion contracture	HP:0001371
10555	AGPAT2	Decreased serum leptin	HP:0003292
10555	AGPAT2	Elevated hepatic transaminase	HP:0002910
10555	AGPAT2	Muscle stiffness	HP:0003552
10555	AGPAT2	Intellectual disability	HP:0001249
10555	AGPAT2	Reduced intrathoracic adipose tissue	HP:0003809
10555	AGPAT2	Tall stature	HP:0000098
10555	AGPAT2	Lipoatrophy	HP:0100578
10555	AGPAT2	Congestive heart failure	HP:0001635
10555	AGPAT2	Failure to thrive	HP:0001508
10555	AGPAT2	Decreased fertility in females	HP:0000868
10555	AGPAT2	Pyloric stenosis	HP:0002021
10555	AGPAT2	Secondary amenorrhea	HP:0000869
10555	AGPAT2	Peripheral neuropathy	HP:0009830
10555	AGPAT2	Cardiomyopathy	HP:0001638
10555	AGPAT2	Hypertrophic cardiomyopathy	HP:0001639
10555	AGPAT2	Abnormality of skin pigmentation	HP:0001000
10555	AGPAT2	Broad foot	HP:0001769
10555	AGPAT2	Spinal rigidity	HP:0003306
10555	AGPAT2	Hyperlordosis	HP:0003307
10555	AGPAT2	Hypertriglyceridemia	HP:0002155
10555	AGPAT2	Oligomenorrhea	HP:0000876
10555	AGPAT2	Insulin-resistant diabetes mellitus at puberty	HP:0000877
10555	AGPAT2	Hirsutism	HP:0001007
10555	AGPAT2	Nephropathy	HP:0000112
10555	AGPAT2	Accelerated skeletal maturation	HP:0005616
10555	AGPAT2	Progressive proximal muscle weakness	HP:0009073
10555	AGPAT2	Cirrhosis	HP:0001394
10555	AGPAT2	Hepatic steatosis	HP:0001397
10555	AGPAT2	Atrial fibrillation	HP:0005110
10555	AGPAT2	Hepatic failure	HP:0001399
10555	AGPAT2	Myocardial infarction	HP:0001658
10555	AGPAT2	Myopathy	HP:0003198
10555	AGPAT2	Bradycardia	HP:0001662
10555	AGPAT2	Dysmenorrhea	HP:0100607
84282	RNF135	Pectus carinatum	HP:0000768
84282	RNF135	Macrocephaly	HP:0000256
84282	RNF135	Optic nerve hypoplasia	HP:0000609
84282	RNF135	Unilateral cryptorchidism	HP:0012741
84282	RNF135	Strabismus	HP:0000486
84282	RNF135	Broad nasal tip	HP:0000455
84282	RNF135	Intellectual disability, mild	HP:0001256
84282	RNF135	Abnormal pulmonary valve morphology	HP:0001641
84282	RNF135	Pulmonic stenosis	HP:0001642
84282	RNF135	Cranial asymmetry	HP:0000267
84282	RNF135	Overgrowth	HP:0001548
84282	RNF135	Hearing impairment	HP:0000365
84282	RNF135	Downslanted palpebral fissures	HP:0000494
84282	RNF135	Abnormal facial shape	HP:0001999
84282	RNF135	Large for gestational age	HP:0001520
84282	RNF135	Accelerated skeletal maturation	HP:0005616
84282	RNF135	Broad forehead	HP:0000337
84282	RNF135	Thick lower lip vermilion	HP:0000179
84282	RNF135	Long philtrum	HP:0000343
84282	RNF135	Autistic behavior	HP:0000729
84282	RNF135	Speech apraxia	HP:0011098
84282	RNF135	Thin upper lip vermilion	HP:0000219
10558	SPTLC1	Pes cavus	HP:0001761
10558	SPTLC1	Skeletal muscle atrophy	HP:0003202
10558	SPTLC1	Chronic axonal neuropathy	HP:0007267
10558	SPTLC1	Areflexia	HP:0001284
10558	SPTLC1	Autosomal dominant inheritance	HP:0000006
10558	SPTLC1	Distal sensory loss of all modalities	HP:0006984
10558	SPTLC1	Autoamputation of foot	HP:0001868
10558	SPTLC1	Hyporeflexia	HP:0001265
10558	SPTLC1	Sensorineural hearing impairment	HP:0000407
10558	SPTLC1	Abnormality of the skin	HP:0000951
10558	SPTLC1	Distal sensory impairment	HP:0002936
10558	SPTLC1	Decreased sensory nerve conduction velocity	HP:0003448
10558	SPTLC1	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
10558	SPTLC1	Distal muscle weakness	HP:0002460
10558	SPTLC1	Foot osteomyelitis	HP:0001886
10559	SLC35A1	Prolonged bleeding time	HP:0003010
10559	SLC35A1	Hypoxemia	HP:0012418
10559	SLC35A1	Orofacial dyskinesia	HP:0002310
10559	SLC35A1	Autosomal recessive inheritance	HP:0000007
10559	SLC35A1	Infantile onset	HP:0003593
10559	SLC35A1	Subcutaneous hemorrhage	HP:0001933
10559	SLC35A1	Thrombocytopenia	HP:0001873
10559	SLC35A1	Encephalopathy	HP:0001298
10559	SLC35A1	Neutropenia	HP:0001875
10559	SLC35A1	Hypotelorism	HP:0000601
10559	SLC35A1	Aminoaciduria	HP:0003355
10559	SLC35A1	Proteinuria	HP:0000093
10559	SLC35A1	Flat occiput	HP:0005469
10559	SLC35A1	Recurrent bacterial infections	HP:0002718
10559	SLC35A1	Pulmonary hemorrhage	HP:0040223
10559	SLC35A1	Poor speech	HP:0002465
10559	SLC35A1	Intellectual disability	HP:0001249
10559	SLC35A1	Seizures	HP:0001250
10559	SLC35A1	Ataxia	HP:0001251
10559	SLC35A1	Pneumonia	HP:0002090
10559	SLC35A1	Deeply set eye	HP:0000490
10559	SLC35A1	Abnormal platelet granules	HP:0011883
10559	SLC35A1	Dysarthria	HP:0001260
10559	SLC35A1	Giant platelets	HP:0001902
10559	SLC35A1	Abnormal megakaryocyte morphology	HP:0012143
10559	SLC35A1	Global developmental delay	HP:0001263
10559	SLC35A1	Respiratory distress	HP:0002098
10559	SLC35A1	Cellulitis	HP:0100658
10559	SLC35A1	Decreased platelet glycoprotein Ib	HP:0031156
10559	SLC35A1	Macrothrombocytopenia	HP:0040185
10559	SLC35A1	Microcephaly	HP:0000252
10559	SLC35A1	Nystagmus	HP:0000639
51520	LARS	Hepatomegaly	HP:0002240
51520	LARS	Seizures	HP:0001250
51520	LARS	Failure to thrive	HP:0001508
51520	LARS	Full cheeks	HP:0000293
51520	LARS	Long fingers	HP:0100807
51520	LARS	Autosomal recessive inheritance	HP:0000007
51520	LARS	Generalized hypotonia	HP:0001290
51520	LARS	Global developmental delay	HP:0001263
51520	LARS	Anemia	HP:0001903
51520	LARS	Long toe	HP:0010511
51520	LARS	Delayed gross motor development	HP:0002194
51520	LARS	Macrocytic anemia	HP:0001972
51520	LARS	Hepatic steatosis	HP:0001397
51520	LARS	Frontal bossing	HP:0002007
51520	LARS	Sensorineural hearing impairment	HP:0000407
51520	LARS	Abnormality of the coagulation cascade	HP:0003256
51520	LARS	Lactic acidosis	HP:0003128
51520	LARS	Acute hepatic failure	HP:0006554
51520	LARS	Microcephaly	HP:0000252
51520	LARS	Elevated hepatic transaminase	HP:0002910
10560	SLC19A2	Sideroblastic anemia	HP:0001924
10560	SLC19A2	Autosomal recessive inheritance	HP:0000007
10560	SLC19A2	Optic atrophy	HP:0000648
10560	SLC19A2	Paresthesia	HP:0003401
10560	SLC19A2	Hoarse voice	HP:0001609
10560	SLC19A2	Headache	HP:0002315
10560	SLC19A2	Paroxysmal atrial tachycardia	HP:0006671
10560	SLC19A2	Stroke	HP:0001297
10560	SLC19A2	Thrombocytopenia	HP:0001873
10560	SLC19A2	Pallor	HP:0000980
10560	SLC19A2	Sensorineural hearing impairment	HP:0000407
10560	SLC19A2	Aminoaciduria	HP:0003355
10560	SLC19A2	Arrhythmia	HP:0011675
10560	SLC19A2	Cryptorchidism	HP:0000028
10560	SLC19A2	Ventricular septal defect	HP:0001629
10560	SLC19A2	Diarrhea	HP:0002014
10560	SLC19A2	Atrial septal defect	HP:0001631
10560	SLC19A2	Cardiac arrest	HP:0001695
10560	SLC19A2	Situs inversus totalis	HP:0001696
10560	SLC19A2	Megaloblastic anemia	HP:0001889
10560	SLC19A2	Short stature	HP:0004322
10560	SLC19A2	Retinal degeneration	HP:0000546
10560	SLC19A2	Seizures	HP:0001250
10560	SLC19A2	Congestive heart failure	HP:0001635
10560	SLC19A2	Ataxia	HP:0001251
10560	SLC19A2	Gastroesophageal reflux	HP:0002020
10560	SLC19A2	Cone/cone-rod dystrophy	HP:0000548
10560	SLC19A2	Lethargy	HP:0001254
10560	SLC19A2	Cardiomyopathy	HP:0001638
10560	SLC19A2	Retinal dystrophy	HP:0000556
10560	SLC19A2	Global developmental delay	HP:0001263
10560	SLC19A2	Diabetes mellitus	HP:0000819
10560	SLC19A2	Anorexia	HP:0002039
10560	SLC19A2	Abnormality of the skin	HP:0000951
10560	SLC19A2	Visual loss	HP:0000572
10560	SLC19A2	Thiamine-responsive megaloblastic anemia	HP:0004860
10560	SLC19A2	Nystagmus	HP:0000639
92482	BBIP1	Abnormal electroretinogram	HP:0000512
92482	BBIP1	Skeletal muscle atrophy	HP:0003202
92482	BBIP1	Multicystic kidney dysplasia	HP:0000003
92482	BBIP1	Brachydactyly	HP:0001156
92482	BBIP1	Pigmentary retinopathy	HP:0000580
92482	BBIP1	Cataract	HP:0000518
92482	BBIP1	Autosomal recessive inheritance	HP:0000007
92482	BBIP1	Hypogonadism	HP:0000135
92482	BBIP1	Postaxial hand polydactyly	HP:0001162
92482	BBIP1	Renal insufficiency	HP:0000083
92482	BBIP1	Hypoplasia of the ovary	HP:0008724
92482	BBIP1	Finger syndactyly	HP:0006101
92482	BBIP1	Short neck	HP:0000470
92482	BBIP1	Cryptorchidism	HP:0000028
92482	BBIP1	Hypoplasia of penis	HP:0008736
92482	BBIP1	Intellectual disability	HP:0001249
92482	BBIP1	Short stature	HP:0004322
92482	BBIP1	Nephrotic syndrome	HP:0000100
92482	BBIP1	Obesity	HP:0001513
92482	BBIP1	Prominent nasal bridge	HP:0000426
92482	BBIP1	Hearing impairment	HP:0000365
92482	BBIP1	Downslanted palpebral fissures	HP:0000494
92482	BBIP1	Low-set, posteriorly rotated ears	HP:0000368
92482	BBIP1	Hepatic fibrosis	HP:0001395
92482	BBIP1	Hypertension	HP:0000822
92482	BBIP1	Generalized hirsutism	HP:0002230
92482	BBIP1	Neurological speech impairment	HP:0002167
92482	BBIP1	Medial flaring of the eyebrow	HP:0010747
92482	BBIP1	Rod-cone dystrophy	HP:0000510
92482	BBIP1	Cognitive impairment	HP:0100543
92482	BBIP1	Nystagmus	HP:0000639
10564	ARFGEF2	Tetraparesis	HP:0002273
10564	ARFGEF2	Seizures	HP:0001250
10564	ARFGEF2	Failure to thrive	HP:0001508
10564	ARFGEF2	Autosomal recessive inheritance	HP:0000007
10564	ARFGEF2	Infantile onset	HP:0003593
10564	ARFGEF2	Generalized hypotonia	HP:0001290
10564	ARFGEF2	Global developmental delay	HP:0001263
10564	ARFGEF2	Intellectual disability, severe	HP:0010864
10564	ARFGEF2	Poor eye contact	HP:0000817
10564	ARFGEF2	Hypsarrhythmia	HP:0002521
10564	ARFGEF2	Progressive microcephaly	HP:0000253
10564	ARFGEF2	Periventricular heterotopia	HP:0007165
10564	ARFGEF2	Hypoplasia of the corpus callosum	HP:0002079
51524	TMEM138	Biparietal narrowing	HP:0004422
51524	TMEM138	Autosomal recessive inheritance	HP:0000007
51524	TMEM138	Hand polydactyly	HP:0001161
51524	TMEM138	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
51524	TMEM138	Polydactyly	HP:0010442
51524	TMEM138	Aganglionic megacolon	HP:0002251
51524	TMEM138	Coloboma	HP:0000589
51524	TMEM138	Anteverted nares	HP:0000463
51524	TMEM138	Oculomotor apraxia	HP:0000657
51524	TMEM138	Renal insufficiency	HP:0000083
51524	TMEM138	Long face	HP:0000276
51524	TMEM138	Abnormality of cardiovascular system morphology	HP:0030680
51524	TMEM138	Autistic behavior	HP:0000729
51524	TMEM138	Dandy-Walker malformation	HP:0001305
51524	TMEM138	Scoliosis	HP:0002650
51524	TMEM138	Nephronophthisis	HP:0000090
51524	TMEM138	Abnormality of neuronal migration	HP:0002269
51524	TMEM138	Abnormality of the hypothalamus-pituitary axis	HP:0000864
51524	TMEM138	Intellectual disability	HP:0001249
51524	TMEM138	Seizures	HP:0001250
51524	TMEM138	Ataxia	HP:0001251
51524	TMEM138	Muscular hypotonia	HP:0001252
51524	TMEM138	Encephalocele	HP:0002084
51524	TMEM138	Iris coloboma	HP:0000612
51524	TMEM138	Tachypnea	HP:0002789
51524	TMEM138	Foot polydactyly	HP:0001829
51524	TMEM138	Strabismus	HP:0000486
51524	TMEM138	Cerebellar vermis hypoplasia	HP:0001320
51524	TMEM138	Blindness	HP:0000618
51524	TMEM138	Prominent nasal bridge	HP:0000426
51524	TMEM138	Renal cyst	HP:0000107
51524	TMEM138	Retinal dystrophy	HP:0000556
51524	TMEM138	Hydrocephalus	HP:0000238
51524	TMEM138	Global developmental delay	HP:0001263
51524	TMEM138	Low-set, posteriorly rotated ears	HP:0000368
51524	TMEM138	Nephropathy	HP:0000112
51524	TMEM138	Molar tooth sign on MRI	HP:0002419
51524	TMEM138	Chorioretinal coloboma	HP:0000567
51524	TMEM138	Apnea	HP:0002104
51524	TMEM138	Highly arched eyebrow	HP:0002553
51524	TMEM138	Ptosis	HP:0000508
51524	TMEM138	Nystagmus	HP:0000639
84295	PHF6	Macrocephaly	HP:0000256
84295	PHF6	Skeletal muscle atrophy	HP:0003202
84295	PHF6	Gynecomastia	HP:0000771
84295	PHF6	Cataract	HP:0000518
84295	PHF6	Sparse hair	HP:0008070
84295	PHF6	Hypogonadism	HP:0000135
84295	PHF6	Generalized hypotonia	HP:0001290
84295	PHF6	X-linked recessive inheritance	HP:0001419
84295	PHF6	Macrotia	HP:0000400
84295	PHF6	Large earlobe	HP:0009748
84295	PHF6	Coarse facial features	HP:0000280
84295	PHF6	Cryptorchidism	HP:0000028
84295	PHF6	Widely spaced toes	HP:0008094
84295	PHF6	Scheuermann-like vertebral changes	HP:0008478
84295	PHF6	Tapered finger	HP:0001182
84295	PHF6	Decreased testicular size	HP:0008734
84295	PHF6	Hypoplasia of penis	HP:0008736
84295	PHF6	Truncal obesity	HP:0001956
84295	PHF6	Short toe	HP:0001831
84295	PHF6	Feeding difficulties in infancy	HP:0008872
84295	PHF6	Camptodactyly of toe	HP:0001836
84295	PHF6	Scrotal hypoplasia	HP:0000046
84295	PHF6	EEG abnormality	HP:0002353
84295	PHF6	Micropenis	HP:0000054
84295	PHF6	Delayed puberty	HP:0000823
84295	PHF6	Joint hyperflexibility	HP:0005692
84295	PHF6	Thick eyebrow	HP:0000574
84295	PHF6	Blepharophimosis	HP:0000581
84295	PHF6	Abnormality of the hip bone	HP:0003272
84295	PHF6	Oral cleft	HP:0000202
84295	PHF6	Prominent supraorbital ridges	HP:0000336
84295	PHF6	Scoliosis	HP:0002650
84295	PHF6	Shortening of all middle phalanges of the fingers	HP:0006110
84295	PHF6	Narrow palpebral fissure	HP:0045025
84295	PHF6	Intellectual disability	HP:0001249
84295	PHF6	Short stature	HP:0004322
84295	PHF6	Seizures	HP:0001250
84295	PHF6	Muscular hypotonia	HP:0001252
84295	PHF6	Shortening of all distal phalanges of the fingers	HP:0006118
84295	PHF6	Peripheral neuropathy	HP:0009830
84295	PHF6	Obesity	HP:0001513
84295	PHF6	Broad foot	HP:0001769
84295	PHF6	Deeply set eye	HP:0000490
84295	PHF6	Hearing impairment	HP:0000365
84295	PHF6	Hypoplasia of the prostate	HP:0008687
84295	PHF6	Intellectual disability, severe	HP:0010864
84295	PHF6	Kyphosis	HP:0002808
84295	PHF6	Visual impairment	HP:0000505
84295	PHF6	Ptosis	HP:0000508
84295	PHF6	Thickened calvaria	HP:0002684
84295	PHF6	Microcephaly	HP:0000252
84295	PHF6	Cervical spinal canal stenosis	HP:0008445
84295	PHF6	Nystagmus	HP:0000639
10568	SLC34A2	Intraalveolar nodular calcifications	HP:0006514
10568	SLC34A2	Diffuse	HP:0020034
10568	SLC34A2	Autosomal recessive inheritance	HP:0000007
10568	SLC34A2	Progressive pulmonary function impairment	HP:0006520
10568	SLC34A2	Onset	HP:0003674
10568	SLC34A2	Slow progression	HP:0003677
10568	SLC34A2	Restrictive deficit on pulmonary function testing	HP:0002111
84300	UQCC2	Depressed nasal bridge	HP:0005280
84300	UQCC2	Proximal renal tubular acidosis	HP:0002049
84300	UQCC2	Poor speech	HP:0002465
84300	UQCC2	Seizures	HP:0001250
84300	UQCC2	Postaxial polydactyly	HP:0100259
84300	UQCC2	Upslanted palpebral fissure	HP:0000582
84300	UQCC2	Neonatal hypotonia	HP:0001319
84300	UQCC2	Autosomal recessive inheritance	HP:0000007
84300	UQCC2	Intrauterine growth retardation	HP:0001511
84300	UQCC2	Infantile onset	HP:0003593
84300	UQCC2	Aggressive behavior	HP:0000718
84300	UQCC2	Global developmental delay	HP:0001263
84300	UQCC2	Hyperactivity	HP:0000752
84300	UQCC2	Metabolic acidosis	HP:0001942
84300	UQCC2	Synophrys	HP:0000664
84300	UQCC2	Cryptorchidism	HP:0000028
84300	UQCC2	Epicanthus	HP:0000286
10577	NPC2	Hepatomegaly	HP:0002240
10577	NPC2	Loss of speech	HP:0002371
10577	NPC2	Psychosis	HP:0000709
10577	NPC2	Autosomal recessive inheritance	HP:0000007
10577	NPC2	Neurofibrillary tangles	HP:0002185
10577	NPC2	Generalized hypotonia	HP:0001290
10577	NPC2	Perseveration	HP:0030223
10577	NPC2	Splenomegaly	HP:0001744
10577	NPC2	Heterogeneous	HP:0001425
10577	NPC2	Low cholesterol esterification rate	HP:0003349
10577	NPC2	Dementia	HP:0000726
10577	NPC2	Onset	HP:0003674
10577	NPC2	Cataplexy	HP:0002524
10577	NPC2	Stereotypy	HP:0000733
10577	NPC2	Dysphagia	HP:0002015
10577	NPC2	Intellectual disability	HP:0001249
10577	NPC2	Seizures	HP:0001250
10577	NPC2	Abnormal circulating cholesterol concentration	HP:0003107
10577	NPC2	Ataxia	HP:0001251
10577	NPC2	Muscular hypotonia	HP:0001252
10577	NPC2	Spasticity	HP:0001257
10577	NPC2	Dysarthria	HP:0001260
10577	NPC2	Respiratory insufficiency	HP:0002093
10577	NPC2	Bone-marrow foam cells	HP:0004333
10577	NPC2	Global developmental delay	HP:0001263
10577	NPC2	Prolonged neonatal jaundice	HP:0006579
10577	NPC2	Dystonia	HP:0001332
10577	NPC2	Foam cells in visceral organs and CNS	HP:0003640
10577	NPC2	Respiratory failure	HP:0002878
10577	NPC2	Sea-blue histiocytosis	HP:0001982
10577	NPC2	Vertical supranuclear gaze palsy	HP:0000511
10577	NPC2	Fetal ascites	HP:0001791
10584	COLEC10	Umbilical hernia	HP:0001537
10584	COLEC10	Postnatal growth retardation	HP:0008897
10584	COLEC10	Diastasis recti	HP:0001540
10584	COLEC10	Clinodactyly	HP:0030084
10584	COLEC10	Blepharophimosis	HP:0000581
10584	COLEC10	Autosomal recessive inheritance	HP:0000007
10584	COLEC10	Caudal appendage	HP:0002825
10584	COLEC10	Oral cleft	HP:0000202
10584	COLEC10	Hip dislocation	HP:0002827
10584	COLEC10	Cleft upper lip	HP:0000204
10584	COLEC10	Prominent coccyx	HP:0040016
10584	COLEC10	Abnormal anterior chamber morphology	HP:0000593
10584	COLEC10	Craniosynostosis	HP:0001363
10584	COLEC10	Facial cleft	HP:0002006
10584	COLEC10	Large fleshy ears	HP:0002265
10584	COLEC10	Epicanthus inversus	HP:0000537
10584	COLEC10	Downturned corners of mouth	HP:0002714
10584	COLEC10	Scoliosis	HP:0002650
10584	COLEC10	Radioulnar synostosis	HP:0002974
10584	COLEC10	Intellectual disability	HP:0001249
10584	COLEC10	Spina bifida occulta	HP:0003298
10584	COLEC10	Short stature	HP:0004322
10584	COLEC10	Preaxial polydactyly	HP:0100258
10584	COLEC10	Growth delay	HP:0001510
10584	COLEC10	Penoscrotal hypospadias	HP:0000808
10584	COLEC10	Hyperlordosis	HP:0003307
10584	COLEC10	Hearing impairment	HP:0000365
10584	COLEC10	Downslanted palpebral fissures	HP:0000494
10584	COLEC10	Cleft palate	HP:0000175
10584	COLEC10	Bifid scrotum	HP:0000048
10584	COLEC10	Low-set ears	HP:0000369
10584	COLEC10	Abnormal nasal morphology	HP:0005105
10584	COLEC10	Bilateral cryptorchidism	HP:0008689
10584	COLEC10	Micropenis	HP:0000054
10584	COLEC10	Highly arched eyebrow	HP:0002553
10584	COLEC10	Abnormality of the pinna	HP:0000377
10584	COLEC10	Telecanthus	HP:0000506
10584	COLEC10	Limited pronation/supination of forearm	HP:0006394
10584	COLEC10	Hypertelorism	HP:0000316
10584	COLEC10	Ptosis	HP:0000508
10584	COLEC10	Supernumerary nipple	HP:0002558
10585	POMT1	Macrocephaly	HP:0000256
10585	POMT1	Fatty replacement of skeletal muscle	HP:0012548
10585	POMT1	Areflexia	HP:0001284
10585	POMT1	Cataract	HP:0000518
10585	POMT1	Autosomal recessive inheritance	HP:0000007
10585	POMT1	Developmental cataract	HP:0000519
10585	POMT1	Gait disturbance	HP:0001288
10585	POMT1	Infantile onset	HP:0003593
10585	POMT1	Generalized hypotonia	HP:0001290
10585	POMT1	Metatarsus valgus	HP:0010508
10585	POMT1	Anophthalmia	HP:0000528
10585	POMT1	Calf muscle hypertrophy	HP:0008981
10585	POMT1	Corneal opacity	HP:0007957
10585	POMT1	Hemiplegia/hemiparesis	HP:0004374
10585	POMT1	Pachygyria	HP:0001302
10585	POMT1	Dandy-Walker malformation	HP:0001305
10585	POMT1	Cryptorchidism	HP:0000028
10585	POMT1	Retinal detachment	HP:0000541
10585	POMT1	Hypoplasia of the corpus callosum	HP:0002079
10585	POMT1	Hypoplasia of penis	HP:0008736
10585	POMT1	Myopia	HP:0000545
10585	POMT1	Occipital encephalocele	HP:0002085
10585	POMT1	Retinal dysplasia	HP:0007973
10585	POMT1	Neonatal hypotonia	HP:0001319
10585	POMT1	Cerebellar hypoplasia	HP:0001321
10585	POMT1	Impaired visuospatial constructive cognition	HP:0010794
10585	POMT1	Left ventricular dysfunction	HP:0005162
10585	POMT1	Retinal dystrophy	HP:0000556
10585	POMT1	Muscle weakness	HP:0001324
10585	POMT1	Buphthalmos	HP:0000557
10585	POMT1	Cerebellar cyst	HP:0002350
10585	POMT1	Specific learning disability	HP:0001328
10585	POMT1	EEG abnormality	HP:0002353
10585	POMT1	Respiratory distress	HP:0002098
10585	POMT1	Hypoplastic male external genitalia	HP:0000050
10585	POMT1	Difficulty walking	HP:0002355
10585	POMT1	Absent septum pellucidum	HP:0001331
10585	POMT1	Chorioretinal dysplasia	HP:0007731
10585	POMT1	Frequent falls	HP:0002359
10585	POMT1	Microphthalmia	HP:0000568
10585	POMT1	Macrogyria	HP:0007227
10585	POMT1	Easy fatigability	HP:0003388
10585	POMT1	Hypoplasia of the brainstem	HP:0002365
10585	POMT1	Gowers sign	HP:0003391
10585	POMT1	Absent speech	HP:0001344
10585	POMT1	Muscle spasm	HP:0003394
10585	POMT1	Facial diplegia	HP:0001349
10585	POMT1	Ventriculomegaly	HP:0002119
10585	POMT1	Abnormality of the voice	HP:0001608
10585	POMT1	Coloboma	HP:0000589
10585	POMT1	Polymicrogyria	HP:0002126
10585	POMT1	Holoprosencephaly	HP:0001360
10585	POMT1	Retinal atrophy	HP:0001105
10585	POMT1	Scoliosis	HP:0002650
10585	POMT1	Flexion contracture	HP:0001371
10585	POMT1	Type II lissencephaly	HP:0007260
10585	POMT1	Slow progression	HP:0003677
10585	POMT1	Optic nerve hypoplasia	HP:0000609
10585	POMT1	Iris coloboma	HP:0000612
10585	POMT1	Cardiomyopathy	HP:0001638
10585	POMT1	Posteriorly rotated ears	HP:0000358
10585	POMT1	Centrally nucleated skeletal muscle fibers	HP:0003687
10585	POMT1	Microtia	HP:0008551
10585	POMT1	Blindness	HP:0000618
10585	POMT1	Renal dysplasia	HP:0000110
10585	POMT1	Intellectual disability, severe	HP:0010864
10585	POMT1	Abnormal aldolase level	HP:0012400
10585	POMT1	Low-set ears	HP:0000369
10585	POMT1	Generalized amyotrophy	HP:0003700
10585	POMT1	Neurological speech impairment	HP:0002167
10585	POMT1	Cerebellar dysplasia	HP:0007033
10585	POMT1	Lumbar hyperlordosis	HP:0002938
10585	POMT1	Posterior fossa cyst	HP:0007291
10585	POMT1	Myopathy	HP:0003198
10585	POMT1	EMG abnormality	HP:0003457
10585	POMT1	EMG: myopathic abnormalities	HP:0003458
10585	POMT1	Skeletal muscle atrophy	HP:0003202
10585	POMT1	Meningocele	HP:0002435
10585	POMT1	Triceps weakness	HP:0031108
10585	POMT1	Facial palsy	HP:0010628
10585	POMT1	Optic atrophy	HP:0000648
10585	POMT1	Agyria	HP:0031882
10585	POMT1	Intellectual disability, profound	HP:0002187
10585	POMT1	Excessive daytime sleepiness	HP:0002189
10585	POMT1	Heterogeneous	HP:0001425
10585	POMT1	Abnormal circulating creatine kinase concentration	HP:0040081
10585	POMT1	Toe walking	HP:0040083
10585	POMT1	Reduced muscle fiber alpha dystroglycan	HP:0030099
10585	POMT1	Peters anomaly	HP:0000659
10585	POMT1	Thigh hypertrophy	HP:0003733
10585	POMT1	Protruding ear	HP:0000411
10585	POMT1	Congenital muscular dystrophy	HP:0003741
10585	POMT1	Atresia of the external auditory canal	HP:0000413
10585	POMT1	Macroglossia	HP:0000158
10585	POMT1	Elevated serum creatine kinase	HP:0003236
10585	POMT1	Severe muscular hypotonia	HP:0006829
10585	POMT1	Cleft palate	HP:0000175
10585	POMT1	Left ventricular hypertrophy	HP:0001712
10585	POMT1	Submucous cleft hard palate	HP:0000176
10585	POMT1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
10585	POMT1	Cognitive impairment	HP:0100543
10585	POMT1	Cough	HP:0012735
10585	POMT1	Kyphoscoliosis	HP:0002751
10585	POMT1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
10585	POMT1	Bifid uvula	HP:0000193
10585	POMT1	Abnormality of the cerebral white matter	HP:0002500
10585	POMT1	Cleft upper lip	HP:0000204
10585	POMT1	Waddling gait	HP:0002515
10585	POMT1	Limb-girdle muscle atrophy	HP:0003797
10585	POMT1	Proximal amyotrophy	HP:0007126
10585	POMT1	Autistic behavior	HP:0000729
10585	POMT1	Type 1 muscle fiber predominance	HP:0003803
10585	POMT1	Difficulty climbing stairs	HP:0003551
10585	POMT1	Intellectual disability	HP:0001249
10585	POMT1	Seizures	HP:0001250
10585	POMT1	Microcornea	HP:0000482
10585	POMT1	Muscular hypotonia	HP:0001252
10585	POMT1	Increased variability in muscle fiber diameter	HP:0003557
10585	POMT1	Megalocornea	HP:0000485
10585	POMT1	Strabismus	HP:0000486
10585	POMT1	Anal atresia	HP:0002023
10585	POMT1	Muscular dystrophy	HP:0003560
10585	POMT1	Meningoencephalocele	HP:0006888
10585	POMT1	Enlarged cisterna magna	HP:0002280
10585	POMT1	Spinal rigidity	HP:0003306
10585	POMT1	Gray matter heterotopia	HP:0002282
10585	POMT1	Abdominal pain	HP:0002027
10585	POMT1	Achilles tendon contracture	HP:0001771
10585	POMT1	Inability to walk	HP:0002540
10585	POMT1	Delayed speech and language development	HP:0000750
10585	POMT1	Hydrocephalus	HP:0000238
10585	POMT1	Global developmental delay	HP:0001263
10585	POMT1	Abnormal lactate dehydrogenase activity	HP:0045040
10585	POMT1	Hyporeflexia	HP:0001265
10585	POMT1	Congenital contracture	HP:0002803
10585	POMT1	Variable expressivity	HP:0003828
10585	POMT1	Mildly elevated creatine kinase	HP:0008180
10585	POMT1	Glaucoma	HP:0000501
10585	POMT1	Motor delay	HP:0001270
10585	POMT1	Cerebellar atrophy	HP:0001272
10585	POMT1	Visual impairment	HP:0000505
10585	POMT1	Agenesis of corpus callosum	HP:0001274
10585	POMT1	Microcephaly	HP:0000252
10585	POMT1	Hypertonia	HP:0001276
10585	POMT1	Generalized muscle weakness	HP:0003324
10585	POMT1	Limb-girdle muscle weakness	HP:0003325
10585	POMT1	Myalgia	HP:0003326
10586	MAB21L2	Macrocephaly	HP:0000256
10586	MAB21L2	Microcornea	HP:0000482
10586	MAB21L2	Pes planus	HP:0001763
10586	MAB21L2	Cataract	HP:0000518
10586	MAB21L2	Strabismus	HP:0000486
10586	MAB21L2	Autosomal dominant inheritance	HP:0000006
10586	MAB21L2	Intellectual disability, moderate	HP:0002342
10586	MAB21L2	Sclerocornea	HP:0000647
10586	MAB21L2	Autosomal recessive inheritance	HP:0000007
10586	MAB21L2	Rhizomelia	HP:0008905
10586	MAB21L2	Coloboma	HP:0000589
10586	MAB21L2	Long eyelashes	HP:0000527
10586	MAB21L2	Hypospadias	HP:0000047
10586	MAB21L2	Anophthalmia	HP:0000528
10586	MAB21L2	Prominent forehead	HP:0011220
10586	MAB21L2	Periorbital fullness	HP:0000629
10586	MAB21L2	Microphthalmia	HP:0000568
10586	MAB21L2	Precocious puberty	HP:0000826
10586	MAB21L2	Ectopia pupillae	HP:0009918
10586	MAB21L2	Epicanthus	HP:0000286
10586	MAB21L2	Nystagmus	HP:0000639
84314	TMEM107	Multicystic kidney dysplasia	HP:0000003
84314	TMEM107	Cataract	HP:0000518
84314	TMEM107	Sclerocornea	HP:0000647
84314	TMEM107	Optic atrophy	HP:0000648
84314	TMEM107	Postaxial hand polydactyly	HP:0001162
84314	TMEM107	Anophthalmia	HP:0000528
84314	TMEM107	Oculomotor apraxia	HP:0000657
84314	TMEM107	Anencephaly	HP:0002323
84314	TMEM107	Abnormal chorioretinal morphology	HP:0000532
84314	TMEM107	Retrognathia	HP:0000278
84314	TMEM107	Dandy-Walker malformation	HP:0001305
84314	TMEM107	Preaxial hand polydactyly	HP:0001177
84314	TMEM107	Oligohydramnios	HP:0001562
84314	TMEM107	Hamartoma of tongue	HP:0011802
84314	TMEM107	Cryptorchidism	HP:0000028
84314	TMEM107	Situs inversus totalis	HP:0001696
84314	TMEM107	Encephalocele	HP:0002084
84314	TMEM107	Male pseudohermaphroditism	HP:0000037
84314	TMEM107	Full cheeks	HP:0000293
84314	TMEM107	Occipital encephalocele	HP:0002085
84314	TMEM107	Postaxial foot polydactyly	HP:0001830
84314	TMEM107	Cerebellar hypoplasia	HP:0001321
84314	TMEM107	Cleft palate	HP:0000175
84314	TMEM107	Cystic liver disease	HP:0006706
84314	TMEM107	Congenital hepatic fibrosis	HP:0002612
84314	TMEM107	Aplasia/Hypoplasia of the tongue	HP:0010295
84314	TMEM107	Microphthalmia	HP:0000568
84314	TMEM107	Apnea	HP:0002104
84314	TMEM107	Hypertelorism	HP:0000316
84314	TMEM107	Urethral atresia	HP:0000068
84314	TMEM107	Ventriculomegaly	HP:0002119
84314	TMEM107	Ureteral duplication	HP:0000073
84314	TMEM107	Pancreatic cysts	HP:0001737
84314	TMEM107	Depressed nasal ridge	HP:0000457
84314	TMEM107	Short palpebral fissure	HP:0012745
84314	TMEM107	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
84314	TMEM107	Asplenia	HP:0001746
84314	TMEM107	Accessory spleen	HP:0001747
84314	TMEM107	Sloping forehead	HP:0000340
84314	TMEM107	Lobar holoprosencephaly	HP:0006870
84314	TMEM107	Bowing of the long bones	HP:0006487
84314	TMEM107	Micrognathia	HP:0000347
84314	TMEM107	Talipes	HP:0001883
84314	TMEM107	True hermaphroditism	HP:0010459
84314	TMEM107	Furrowed tongue	HP:0000221
84314	TMEM107	Intellectual disability	HP:0001249
84314	TMEM107	Microcornea	HP:0000482
84314	TMEM107	Ataxia	HP:0001251
84314	TMEM107	Retinopathy	HP:0000488
84314	TMEM107	Gray matter heterotopia	HP:0002282
84314	TMEM107	Inability to walk	HP:0002540
84314	TMEM107	Hydrocephalus	HP:0000238
84314	TMEM107	Global developmental delay	HP:0001263
84314	TMEM107	Low-set, posteriorly rotated ears	HP:0000368
84314	TMEM107	Intellectual disability, severe	HP:0010864
84314	TMEM107	Molar tooth sign on MRI	HP:0002419
84314	TMEM107	Aplasia/Hypoplasia of the iris	HP:0008053
84314	TMEM107	Microcephaly	HP:0000252
84314	TMEM107	Ptosis	HP:0000508
84314	TMEM107	Pancreatic fibrosis	HP:0100732
10587	TXNRD2	EMG abnormality	HP:0003457
10587	TXNRD2	Abnormality of neutrophils	HP:0001874
10587	TXNRD2	Lipoatrophy	HP:0100578
10587	TXNRD2	Elevated serum creatine kinase	HP:0003236
10587	TXNRD2	Palmoplantar keratoderma	HP:0000982
10587	TXNRD2	Sensorineural hearing impairment	HP:0000407
10587	TXNRD2	Dilated cardiomyopathy	HP:0001644
10587	TXNRD2	Myopathy	HP:0003198
2395	FXN	Autosomal recessive inheritance	HP:0000007
2395	FXN	Optic atrophy	HP:0000648
2395	FXN	Decreased pyruvate carboxylase activity	HP:0003209
2395	FXN	Abnormality of visual evoked potentials	HP:0000649
2395	FXN	Impaired proprioception	HP:0010831
2395	FXN	Gait ataxia	HP:0002066
2395	FXN	Limb ataxia	HP:0002070
2395	FXN	Urinary bladder sphincter dysfunction	HP:0002839
2395	FXN	Chorea	HP:0002072
2395	FXN	Scoliosis	HP:0002650
2395	FXN	Areflexia of lower limbs	HP:0002522
2395	FXN	Gait imbalance	HP:0002141
2395	FXN	Dysmetria	HP:0001310
2395	FXN	Babinski sign	HP:0003487
2395	FXN	Dysphagia	HP:0002015
2395	FXN	Falls	HP:0002527
2395	FXN	Mitochondrial malic enzyme reduced	HP:0003232
2395	FXN	Intention tremor	HP:0002080
2395	FXN	Pes cavus	HP:0001761
2395	FXN	Poor fine motor coordination	HP:0007010
2395	FXN	Visual field defect	HP:0001123
2395	FXN	Congestive heart failure	HP:0001635
2395	FXN	Juvenile onset	HP:0003621
2395	FXN	Decreased amplitude of sensory action potentials	HP:0007078
2395	FXN	Cardiomyopathy	HP:0001638
2395	FXN	Hypertrophic cardiomyopathy	HP:0001639
2395	FXN	Decreased motor nerve conduction velocity	HP:0003431
2395	FXN	Impaired visually enhanced vestibulo-ocular reflex	HP:0030183
2395	FXN	Spasticity	HP:0001257
2395	FXN	Hand muscle atrophy	HP:0009130
2395	FXN	Abnormal EKG	HP:0003115
2395	FXN	Dysarthria	HP:0001260
2395	FXN	Abnormal echocardiogram	HP:0003116
2395	FXN	Muscle weakness	HP:0001324
2395	FXN	Inability to walk	HP:0002540
2395	FXN	Hearing impairment	HP:0000365
2395	FXN	Reduced visual acuity	HP:0007663
2395	FXN	Incomprehensible speech	HP:0002546
2395	FXN	Diabetes mellitus	HP:0000819
2395	FXN	Dystonia	HP:0001332
2395	FXN	Decreased sensory nerve conduction velocity	HP:0003448
2395	FXN	Cervical spinal cord atrophy	HP:0010873
2395	FXN	Abnormal saccadic eye movements	HP:0000570
2395	FXN	Sensory neuropathy	HP:0000763
2395	FXN	Sensory axonal neuropathy	HP:0003390
2395	FXN	Impaired vibratory sensation	HP:0002495
2395	FXN	Nystagmus	HP:0000639
84317	CCDC115	Hepatomegaly	HP:0002240
84317	CCDC115	Skeletal muscle atrophy	HP:0003202
84317	CCDC115	Seizures	HP:0001250
84317	CCDC115	Elevated serum creatine kinase	HP:0003236
84317	CCDC115	Increased LDL cholesterol concentration	HP:0003141
84317	CCDC115	Autosomal recessive inheritance	HP:0000007
84317	CCDC115	Copper accumulation in liver	HP:0025321
84317	CCDC115	Infantile onset	HP:0003593
84317	CCDC115	Generalized hypotonia	HP:0001290
84317	CCDC115	Downslanted palpebral fissures	HP:0000494
84317	CCDC115	Elevated alkaline phosphatase of bone origin	HP:0010639
84317	CCDC115	Global developmental delay	HP:0001263
84317	CCDC115	Splenomegaly	HP:0001744
84317	CCDC115	Cirrhosis	HP:0001394
84317	CCDC115	Cholestatic liver disease	HP:0002611
84317	CCDC115	Prolonged neonatal jaundice	HP:0006579
84317	CCDC115	Long face	HP:0000276
84317	CCDC115	Hypercholesterolemia	HP:0003124
84317	CCDC115	Decreased serum ceruloplasmin	HP:0010837
84317	CCDC115	Hepatic failure	HP:0001399
84317	CCDC115	Hepatosplenomegaly	HP:0001433
84317	CCDC115	Abnormal glycosylation	HP:0012345
84317	CCDC115	Ptosis	HP:0000508
84317	CCDC115	Elevated hepatic transaminase	HP:0002910
10594	PRPF8	Abnormal electroretinogram	HP:0000512
10594	PRPF8	Hyperreflexia	HP:0001347
10594	PRPF8	Autosomal dominant inheritance	HP:0000006
10594	PRPF8	Cataract	HP:0000518
10594	PRPF8	Hypogonadism	HP:0000135
10594	PRPF8	Optic atrophy	HP:0000648
10594	PRPF8	Hyperinsulinemia	HP:0000842
10594	PRPF8	Anteverted nares	HP:0000463
10594	PRPF8	Conductive hearing impairment	HP:0000405
10594	PRPF8	Hypopigmentation of the fundus	HP:0007894
10594	PRPF8	Nyctalopia	HP:0000662
10594	PRPF8	Sensorineural hearing impairment	HP:0000407
10594	PRPF8	Abnormality of retinal pigmentation	HP:0007703
10594	PRPF8	Ophthalmoplegia	HP:0000602
10594	PRPF8	Type II diabetes mellitus	HP:0005978
10594	PRPF8	Atypical scarring of skin	HP:0000987
10594	PRPF8	Hypoplasia of penis	HP:0008736
10594	PRPF8	Intellectual disability	HP:0001249
10594	PRPF8	Retinal degeneration	HP:0000546
10594	PRPF8	Abnormal testis morphology	HP:0000035
10594	PRPF8	Photophobia	HP:0000613
10594	PRPF8	Obesity	HP:0001513
10594	PRPF8	Blindness	HP:0000618
10594	PRPF8	Constriction of peripheral visual field	HP:0001133
10594	PRPF8	Abnormal retinal vascular morphology	HP:0008046
10594	PRPF8	Wide nasal bridge	HP:0000431
10594	PRPF8	Cystoid macular edema	HP:0011505
10594	PRPF8	Keratoconus	HP:0000563
10594	PRPF8	Incomplete penetrance	HP:0003829
10594	PRPF8	Glaucoma	HP:0000501
10594	PRPF8	Progressive night blindness	HP:0007675
10594	PRPF8	Rod-cone dystrophy	HP:0000510
10594	PRPF8	Nystagmus	HP:0000639
10599	SLCO1B1	Autosomal recessive inheritance	HP:0000007
10599	SLCO1B1	Abnormality of the gastric mucosa	HP:0004295
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
84334	COA8	Decreased liver function	HP:0001410
84334	COA8	Glycosuria	HP:0003076
84334	COA8	Spastic tetraparesis	HP:0001285
84334	COA8	Autosomal recessive inheritance	HP:0000007
84334	COA8	Optic atrophy	HP:0000648
84334	COA8	Gait disturbance	HP:0001288
84334	COA8	Generalized hypotonia	HP:0001290
84334	COA8	Heterogeneous	HP:0001425
84334	COA8	Mitochondrial inheritance	HP:0001427
84334	COA8	Sensorineural hearing impairment	HP:0000407
84334	COA8	Diffuse hepatic steatosis	HP:0006555
84334	COA8	Aminoaciduria	HP:0003355
84334	COA8	Hyperphosphaturia	HP:0003109
84334	COA8	Increased hepatocellular lipid droplets	HP:0006565
84334	COA8	Bilateral sensorineural hearing impairment	HP:0008619
84334	COA8	Leukoencephalopathy	HP:0002352
84334	COA8	Respiratory distress	HP:0002098
84334	COA8	Lactic acidosis	HP:0003128
84334	COA8	Increased CSF lactate	HP:0002490
84334	COA8	Exertional dyspnea	HP:0002875
84334	COA8	Respiratory insufficiency due to muscle weakness	HP:0002747
84334	COA8	Hepatomegaly	HP:0002240
84334	COA8	Pigmentary retinopathy	HP:0000580
84334	COA8	Progressive leukoencephalopathy	HP:0006980
84334	COA8	Developmental regression	HP:0002376
84334	COA8	Renal Fanconi syndrome	HP:0001994
84334	COA8	Increased intramyocellular lipid droplets	HP:0012240
84334	COA8	Abnormal pyramidal sign	HP:0007256
84334	COA8	Exercise intolerance	HP:0003546
84334	COA8	Progressive peripheral neuropathy	HP:0007133
84334	COA8	Vomiting	HP:0002013
84334	COA8	Proteinuria	HP:0000093
84334	COA8	Intellectual disability	HP:0001249
84334	COA8	Seizures	HP:0001250
84334	COA8	Skeletal muscle steatosis	HP:0040291
84334	COA8	Ataxia	HP:0001251
84334	COA8	Failure to thrive	HP:0001508
84334	COA8	Muscular hypotonia	HP:0001252
84334	COA8	Hypertrophic cardiomyopathy	HP:0001639
84334	COA8	Increased serum lactate	HP:0002151
84334	COA8	Cytochrome C oxidase-negative muscle fibers	HP:0003688
84334	COA8	Excessive daytime somnolence	HP:0001262
84334	COA8	Delayed speech and language development	HP:0000750
84334	COA8	Anemia	HP:0001903
84334	COA8	Global developmental delay	HP:0001263
84334	COA8	Fatigable weakness of swallowing muscles	HP:0030195
84334	COA8	Motor delay	HP:0001270
84334	COA8	Renal tubular dysfunction	HP:0000124
84334	COA8	Ptosis	HP:0000508
84334	COA8	Generalized muscle weakness	HP:0003324
51567	TDP2	Intellectual disability	HP:0001249
51567	TDP2	Seizures	HP:0001250
51567	TDP2	Ataxia	HP:0001251
51567	TDP2	Hyponatremia	HP:0002902
51567	TDP2	Autosomal recessive inheritance	HP:0000007
51567	TDP2	Brachycephaly	HP:0000248
51567	TDP2	Generalized hypotonia	HP:0001290
51567	TDP2	Easy fatigability	HP:0003388
51567	TDP2	Abnormal facial shape	HP:0001999
51569	UFM1	Absent speech	HP:0001344
51569	UFM1	Intellectual disability	HP:0001249
51569	UFM1	Seizures	HP:0001250
51569	UFM1	Dystonia	HP:0001332
51569	UFM1	Cerebellar atrophy	HP:0001272
51569	UFM1	Spasticity	HP:0001257
51569	UFM1	Cerebral atrophy	HP:0002059
10613	ERLIN1	Lower limb pain	HP:0012514
10613	ERLIN1	Skeletal muscle atrophy	HP:0003202
10613	ERLIN1	Tip-toe gait	HP:0030051
10613	ERLIN1	Hyperreflexia	HP:0001347
10613	ERLIN1	Areflexia	HP:0001284
10613	ERLIN1	Abnormal cerebellum morphology	HP:0001317
10613	ERLIN1	Autosomal recessive inheritance	HP:0000007
10613	ERLIN1	Spasticity	HP:0001257
10613	ERLIN1	Dysarthria	HP:0001260
10613	ERLIN1	Knee flexion contracture	HP:0006380
10613	ERLIN1	Lower limb spasticity	HP:0002061
10613	ERLIN1	Spastic gait	HP:0002064
10613	ERLIN1	Difficulty walking	HP:0002355
10613	ERLIN1	Clonus	HP:0002169
10613	ERLIN1	Absent patellar reflexes	HP:0006844
10613	ERLIN1	Progressive	HP:0003676
10613	ERLIN1	Thoracic scoliosis	HP:0002943
10613	ERLIN1	Babinski sign	HP:0003487
84343	HPS3	Bruising susceptibility	HP:0000978
84343	HPS3	Abnormal bleeding	HP:0001892
84343	HPS3	Autosomal recessive inheritance	HP:0000007
84343	HPS3	Visual impairment	HP:0000505
84343	HPS3	Horizontal nystagmus	HP:0000666
84343	HPS3	Abnormal platelet granules	HP:0011883
84343	HPS3	Nystagmus	HP:0000639
51574	LARP7	Depressed nasal bridge	HP:0005280
51574	LARP7	Short philtrum	HP:0000322
51574	LARP7	Decreased body weight	HP:0004325
51574	LARP7	Autosomal recessive inheritance	HP:0000007
51574	LARP7	Deeply set eye	HP:0000490
51574	LARP7	Wide nasal bridge	HP:0000431
51574	LARP7	Global developmental delay	HP:0001263
51574	LARP7	Intellectual disability, severe	HP:0010864
51574	LARP7	Malar flattening	HP:0000272
51574	LARP7	Low-set ears	HP:0000369
51574	LARP7	Severe short stature	HP:0003510
51574	LARP7	Thick vermilion border	HP:0012471
51574	LARP7	Scoliosis	HP:0002650
51574	LARP7	Wide mouth	HP:0000154
51574	LARP7	Microcephaly	HP:0000252
51574	LARP7	Wide nose	HP:0000445
26999	CYFIP2	Feeding difficulties	HP:0011968
26999	CYFIP2	Absent speech	HP:0001344
26999	CYFIP2	Hyperreflexia	HP:0001347
26999	CYFIP2	Epileptic encephalopathy	HP:0200134
26999	CYFIP2	Ventriculomegaly	HP:0002119
26999	CYFIP2	Optic atrophy	HP:0000648
26999	CYFIP2	Developmental regression	HP:0002376
26999	CYFIP2	Generalized hypotonia	HP:0001290
26999	CYFIP2	Cerebral atrophy	HP:0002059
26999	CYFIP2	Limb hypertonia	HP:0002509
26999	CYFIP2	Autism	HP:0000717
26999	CYFIP2	Unsteady gait	HP:0002317
26999	CYFIP2	Rigidity	HP:0002063
26999	CYFIP2	Encephalopathy	HP:0001298
26999	CYFIP2	Status epilepticus	HP:0002133
26999	CYFIP2	Decreased fetal movement	HP:0001558
26999	CYFIP2	Hypsarrhythmia	HP:0002521
26999	CYFIP2	High forehead	HP:0000348
26999	CYFIP2	EEG with multifocal slow activity	HP:0010844
26999	CYFIP2	Hypodontia	HP:0000668
26999	CYFIP2	Abnormal myelination	HP:0012447
26999	CYFIP2	Intellectual disability	HP:0001249
26999	CYFIP2	Short stature	HP:0004322
26999	CYFIP2	Retinal degeneration	HP:0000546
26999	CYFIP2	Seizures	HP:0001250
26999	CYFIP2	Ataxia	HP:0001251
26999	CYFIP2	Gastroesophageal reflux	HP:0002020
26999	CYFIP2	Failure to thrive	HP:0001508
26999	CYFIP2	Impulsivity	HP:0100710
26999	CYFIP2	Spasticity	HP:0001257
26999	CYFIP2	Attention deficit hyperactivity disorder	HP:0007018
26999	CYFIP2	Downslanted palpebral fissures	HP:0000494
26999	CYFIP2	Delayed speech and language development	HP:0000750
26999	CYFIP2	Global developmental delay	HP:0001263
26999	CYFIP2	Hyporeflexia	HP:0001265
26999	CYFIP2	Difficulty walking	HP:0002355
26999	CYFIP2	Mental deterioration	HP:0001268
26999	CYFIP2	Poor head control	HP:0002421
26999	CYFIP2	Dyskinesia	HP:0100660
26999	CYFIP2	Myoclonus	HP:0001336
26999	CYFIP2	Abnormality of vision	HP:0000504
26999	CYFIP2	Cerebellar atrophy	HP:0001272
26999	CYFIP2	Tremor	HP:0001337
26999	CYFIP2	Abnormal corpus callosum morphology	HP:0001273
26999	CYFIP2	Microcephaly	HP:0000252
26999	CYFIP2	Ptosis	HP:0000508
26999	CYFIP2	Nystagmus	HP:0000639
84342	COG8	Alternating esotropia	HP:0001137
84342	COG8	Intellectual disability	HP:0001249
84342	COG8	Encephalopathy	HP:0001298
84342	COG8	Muscular hypotonia	HP:0001252
84342	COG8	Elevated serum creatine kinase	HP:0003236
84342	COG8	Status epilepticus	HP:0002133
84342	COG8	Elevated serum transaminases during infections	HP:0008150
84342	COG8	Autosomal recessive inheritance	HP:0000007
84342	COG8	Ventriculomegaly	HP:0002119
84342	COG8	Cerebellar atrophy	HP:0001272
10616	RBCK1	Hepatomegaly	HP:0002240
10616	RBCK1	Immunodeficiency	HP:0002721
10616	RBCK1	Elevated serum creatine kinase	HP:0003236
10616	RBCK1	Eczema	HP:0000964
10616	RBCK1	Failure to thrive	HP:0001508
10616	RBCK1	Growth delay	HP:0001510
10616	RBCK1	Autosomal recessive inheritance	HP:0000007
10616	RBCK1	Dilated cardiomyopathy	HP:0001644
10616	RBCK1	Variable expressivity	HP:0003828
10616	RBCK1	Proximal muscle weakness	HP:0003701
10616	RBCK1	Scoliosis	HP:0002650
10616	RBCK1	Progressive	HP:0003676
10616	RBCK1	Lymphadenopathy	HP:0002716
10616	RBCK1	Ptosis	HP:0000508
10616	RBCK1	Elevated hepatic transaminase	HP:0002910
10616	RBCK1	Myalgia	HP:0003326
10616	RBCK1	Recurrent infections	HP:0002719
10617	STAMBP	Small nail	HP:0001792
10617	STAMBP	Right ventricular hypertrophy	HP:0001667
10617	STAMBP	Brachydactyly	HP:0001156
10617	STAMBP	Clinodactyly	HP:0030084
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	Seizures	HP:0001250
10617	STAMBP	Short stature	HP:0004322
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	Hypertelorism	HP:0000316
10617	STAMBP	Short nose	HP:0003196
10617	STAMBP	Ptosis	HP:0000508
10617	STAMBP	Wide nose	HP:0000445
10617	STAMBP	Progressive microcephaly	HP:0000253
27010	TPK1	Left ventricular hypertrophy	HP:0001712
27010	TPK1	Vertigo	HP:0002321
27010	TPK1	Seizures	HP:0001250
27010	TPK1	Ataxia	HP:0001251
27010	TPK1	Loss of speech	HP:0002371
27010	TPK1	Dystonia	HP:0001332
27010	TPK1	Autosomal recessive inheritance	HP:0000007
27010	TPK1	Lactic acidosis	HP:0003128
27010	TPK1	Spasticity	HP:0001257
27010	TPK1	Generalized hypotonia	HP:0001290
27010	TPK1	Global developmental delay	HP:0001263
51594	NBAS	Postnatal growth retardation	HP:0008897
51594	NBAS	Hyperammonemia	HP:0001987
51594	NBAS	Brachydactyly	HP:0001156
51594	NBAS	Facial asymmetry	HP:0000324
51594	NBAS	Autosomal recessive inheritance	HP:0000007
51594	NBAS	Nonprogressive visual loss	HP:0200068
51594	NBAS	Syndactyly	HP:0001159
51594	NBAS	Optic atrophy	HP:0000648
51594	NBAS	Proptosis	HP:0000520
51594	NBAS	Prominent glabella	HP:0002057
51594	NBAS	Cutis laxa	HP:0000973
51594	NBAS	Long face	HP:0000276
51594	NBAS	Narrow forehead	HP:0000341
51594	NBAS	Short neck	HP:0000470
51594	NBAS	Hypoglycemia	HP:0001943
51594	NBAS	Long philtrum	HP:0000343
51594	NBAS	Acute hepatic failure	HP:0006554
51594	NBAS	Hypermetropia	HP:0000540
51594	NBAS	Vomiting	HP:0002013
51594	NBAS	Elevated hepatic transaminase	HP:0002910
51594	NBAS	Epicanthus	HP:0000286
51594	NBAS	Myopia	HP:0000545
51594	NBAS	Seizures	HP:0001250
51594	NBAS	Short stature	HP:0004322
51594	NBAS	Muscular hypotonia	HP:0001252
51594	NBAS	Fine hair	HP:0002213
51594	NBAS	Lethargy	HP:0001254
51594	NBAS	Cardiomyopathy	HP:0001638
51594	NBAS	Strabismus	HP:0000486
51594	NBAS	Micromelia	HP:0002983
51594	NBAS	Thin vermilion border	HP:0000233
51594	NBAS	Reduced visual acuity	HP:0007663
51594	NBAS	Hepatic encephalopathy	HP:0002480
51594	NBAS	Jaundice	HP:0000952
51594	NBAS	Abnormality of the coagulation cascade	HP:0003256
51594	NBAS	Brachycephaly	HP:0000248
51594	NBAS	Single transverse palmar crease	HP:0000954
51594	NBAS	Hypertelorism	HP:0000316
51594	NBAS	Achromatopsia	HP:0011516
51594	NBAS	Sandal gap	HP:0001852
51594	NBAS	Delayed skeletal maturation	HP:0002750
51594	NBAS	Thick eyebrow	HP:0000574
27019	DNAI1	Absent frontal sinuses	HP:0002688
27019	DNAI1	Situs inversus totalis	HP:0001696
27019	DNAI1	Abnormal cornea morphology	HP:0000481
27019	DNAI1	Chronic otitis media	HP:0000389
27019	DNAI1	Chronic sinusitis	HP:0011109
27019	DNAI1	Immotile cilia	HP:0012263
27019	DNAI1	Autosomal recessive inheritance	HP:0000007
27019	DNAI1	Nasal polyposis	HP:0100582
27019	DNAI1	Ciliary dyskinesia	HP:0012265
27019	DNAI1	Anosmia	HP:0000458
27019	DNAI1	Pneumonia	HP:0002090
27019	DNAI1	Headache	HP:0002315
27019	DNAI1	Chronic rhinitis	HP:0002257
27019	DNAI1	Heterogeneous	HP:0001425
27019	DNAI1	Asplenia	HP:0001746
27019	DNAI1	Abnormal respiratory motile cilium morphology	HP:0005938
27019	DNAI1	Male infertility	HP:0003251
27019	DNAI1	Conductive hearing impairment	HP:0000405
27019	DNAI1	Communicating hydrocephalus	HP:0001334
27019	DNAI1	Sinusitis	HP:0000246
27019	DNAI1	Recurrent respiratory infections	HP:0002205
27019	DNAI1	Bronchiectasis	HP:0002110
10641	NPRL2	Seizures	HP:0001250
10641	NPRL2	Incomplete penetrance	HP:0003829
10641	NPRL2	Autosomal dominant inheritance	HP:0000006
10641	NPRL2	Focal cortical dysplasia	HP:0032046
51601	LIPT1	Decreased liver function	HP:0001410
51601	LIPT1	Hyperreflexia	HP:0001347
51601	LIPT1	Abnormality of the cerebral white matter	HP:0002500
51601	LIPT1	Pigmentary retinopathy	HP:0000580
51601	LIPT1	Spastic tetraparesis	HP:0001285
51601	LIPT1	Autosomal recessive inheritance	HP:0000007
51601	LIPT1	Optic atrophy	HP:0000648
51601	LIPT1	Emotional lability	HP:0000712
51601	LIPT1	Infantile onset	HP:0003593
51601	LIPT1	Decreased activity of mitochondrial respiratory chain	HP:0008972
51601	LIPT1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
51601	LIPT1	Abnormality of extrapyramidal motor function	HP:0002071
51601	LIPT1	Progressive cerebellar ataxia	HP:0002073
51601	LIPT1	Ophthalmoplegia	HP:0000602
51601	LIPT1	Ventricular septal defect	HP:0001629
51601	LIPT1	Elevated hepatic transaminase	HP:0002910
51601	LIPT1	Delayed myelination	HP:0012448
51601	LIPT1	Seizures	HP:0001250
51601	LIPT1	Failure to thrive	HP:0001508
51601	LIPT1	Muscular hypotonia	HP:0001252
51601	LIPT1	Strabismus	HP:0000486
51601	LIPT1	Hypertrichosis	HP:0000998
51601	LIPT1	Peripheral neuropathy	HP:0009830
51601	LIPT1	Increased serum lactate	HP:0002151
51601	LIPT1	Hypertrophic cardiomyopathy	HP:0001639
51601	LIPT1	Muscular hypotonia of the trunk	HP:0008936
51601	LIPT1	Pulmonary arterial hypertension	HP:0002092
51601	LIPT1	Progressive spastic paraplegia	HP:0007020
51601	LIPT1	Dysarthria	HP:0001260
51601	LIPT1	Hearing impairment	HP:0000365
51601	LIPT1	Global developmental delay	HP:0001263
51601	LIPT1	Anemia	HP:0001903
51601	LIPT1	Leukodystrophy	HP:0002415
51601	LIPT1	Intellectual disability, severe	HP:0010864
51601	LIPT1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
51601	LIPT1	Death in infancy	HP:0001522
51601	LIPT1	Dystonia	HP:0001332
51601	LIPT1	Increased total bilirubin	HP:0003573
51601	LIPT1	Cerebellar atrophy	HP:0001272
51601	LIPT1	Lactic acidosis	HP:0003128
51601	LIPT1	Apnea	HP:0002104
51601	LIPT1	Increased CSF lactate	HP:0002490
51601	LIPT1	Ptosis	HP:0000508
51601	LIPT1	Bradycardia	HP:0001662
51601	LIPT1	Nystagmus	HP:0000639
51604	PIGT	Macrocephaly	HP:0000256
51604	PIGT	Urticaria	HP:0001025
51604	PIGT	Autosomal dominant inheritance	HP:0000006
51604	PIGT	Autosomal recessive inheritance	HP:0000007
51604	PIGT	Infantile onset	HP:0003593
51604	PIGT	Generalized hypotonia	HP:0001290
51604	PIGT	Cerebral atrophy	HP:0002059
51604	PIGT	Headache	HP:0002315
51604	PIGT	Arthralgia	HP:0002829
51604	PIGT	Somatic mutation	HP:0001428
51604	PIGT	Downturned corners of mouth	HP:0002714
51604	PIGT	Hypermetropia	HP:0000540
51604	PIGT	Babinski sign	HP:0003487
51604	PIGT	Depressed nasal bridge	HP:0005280
51604	PIGT	Abnormality of the dentition	HP:0000164
51604	PIGT	Cerebellar hypoplasia	HP:0001321
51604	PIGT	Osteopenia	HP:0000938
51604	PIGT	Osteoporosis	HP:0000939
51604	PIGT	Dyspnea	HP:0002094
51604	PIGT	EEG abnormality	HP:0002353
51604	PIGT	Esotropia	HP:0000565
51604	PIGT	Ankle clonus	HP:0011448
51604	PIGT	Restrictive cardiomyopathy	HP:0001723
51604	PIGT	Delayed skeletal maturation	HP:0002750
51604	PIGT	Open mouth	HP:0000194
51604	PIGT	Ureteral stenosis	HP:0000071
51604	PIGT	Developmental regression	HP:0002376
51604	PIGT	Hypoplasia of the ulna	HP:0003022
51604	PIGT	Anteverted nares	HP:0000463
51604	PIGT	Deep philtrum	HP:0002002
51604	PIGT	Paroxysmal nocturnal hemoglobinuria	HP:0004818
51604	PIGT	Narrow forehead	HP:0000341
51604	PIGT	Hemolytic anemia	HP:0001878
51604	PIGT	Long philtrum	HP:0000343
51604	PIGT	Scoliosis	HP:0002650
51604	PIGT	High palate	HP:0000218
51604	PIGT	Fatigue	HP:0012378
51604	PIGT	High forehead	HP:0000348
51604	PIGT	Diarrhea	HP:0002014
51604	PIGT	Seizures	HP:0001250
51604	PIGT	Ataxia	HP:0001251
51604	PIGT	Hypercalciuria	HP:0002150
51604	PIGT	Strabismus	HP:0000486
51604	PIGT	Patent ductus arteriosus	HP:0001643
51604	PIGT	Renal cyst	HP:0000107
51604	PIGT	Abdominal pain	HP:0002027
51604	PIGT	Global developmental delay	HP:0001263
51604	PIGT	Large for gestational age	HP:0001520
51604	PIGT	Inverted nipples	HP:0003186
51604	PIGT	Cerebellar atrophy	HP:0001272
51604	PIGT	Brachycephaly	HP:0000248
51604	PIGT	Visual impairment	HP:0000505
51604	PIGT	Nephrocalcinosis	HP:0000121
51604	PIGT	Short nose	HP:0003196
51604	PIGT	Nystagmus	HP:0000639
51604	PIGT	Pectus excavatum	HP:0000767
27030	MLH3	Death in early adulthood	HP:0100613
27030	MLH3	Autosomal dominant inheritance	HP:0000006
27030	MLH3	Ovarian neoplasm	HP:0100615
27030	MLH3	Neoplasm of the rectum	HP:0100743
27030	MLH3	Gait disturbance	HP:0001288
27030	MLH3	Glioblastoma multiforme	HP:0012174
27030	MLH3	Hemiplegia/hemiparesis	HP:0004374
27030	MLH3	Agnosia	HP:0010524
27030	MLH3	Migraine	HP:0002076
27030	MLH3	Dysgraphia	HP:0010526
27030	MLH3	Weight loss	HP:0001824
27030	MLH3	Urinary tract neoplasm	HP:0010786
27030	MLH3	Memory impairment	HP:0002354
27030	MLH3	Dyskinesia	HP:0100660
27030	MLH3	Colon cancer	HP:0003003
27030	MLH3	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
27030	MLH3	Neuroblastoma	HP:0003006
27030	MLH3	Neoplasm of the thyroid gland	HP:0100031
27030	MLH3	Gastrointestinal hemorrhage	HP:0002239
27030	MLH3	Pancreatic adenocarcinoma	HP:0006725
27030	MLH3	Developmental regression	HP:0002376
27030	MLH3	Paresthesia	HP:0003401
27030	MLH3	Intestinal polyposis	HP:0200008
27030	MLH3	Depressivity	HP:0000716
27030	MLH3	Pituitary adenoma	HP:0002893
27030	MLH3	Increased intracranial pressure	HP:0002516
27030	MLH3	Abnormal pyramidal sign	HP:0007256
27030	MLH3	Cardiac diverticulum	HP:0100571
27030	MLH3	Fatigue	HP:0012378
27030	MLH3	Flexion contracture	HP:0001371
27030	MLH3	Nausea and vomiting	HP:0002017
27030	MLH3	Irritability	HP:0000737
27030	MLH3	Amaurosis fugax	HP:0100576
27030	MLH3	Hallucinations	HP:0000738
27030	MLH3	Seizures	HP:0001250
27030	MLH3	Benign neoplasm of the central nervous system	HP:0100835
27030	MLH3	Visual field defect	HP:0001123
27030	MLH3	Anxiety	HP:0000739
27030	MLH3	Constipation	HP:0002019
27030	MLH3	Muscular hypotonia	HP:0001252
27030	MLH3	Malabsorption	HP:0002024
27030	MLH3	Attention deficit hyperactivity disorder	HP:0007018
27030	MLH3	Abdominal pain	HP:0002027
27030	MLH3	Dysarthria	HP:0001260
27030	MLH3	Basal cell carcinoma	HP:0002671
27030	MLH3	Death in infancy	HP:0001522
27030	MLH3	Hepatocellular carcinoma	HP:0001402
27030	MLH3	Hypertonia	HP:0001276
27030	MLH3	Neoplasm of the skeletal system	HP:0010622
27031	NPHP3	Bile duct proliferation	HP:0001408
27031	NPHP3	Portal hypertension	HP:0001409
27031	NPHP3	Multiple glomerular cysts	HP:0100611
27031	NPHP3	Multicystic kidney dysplasia	HP:0000003
27031	NPHP3	Right ventricular hypertrophy	HP:0001667
27031	NPHP3	Cataract	HP:0000518
27031	NPHP3	Intestinal malrotation	HP:0002566
27031	NPHP3	Autosomal recessive inheritance	HP:0000007
27031	NPHP3	Choroid plexus cyst	HP:0002190
27031	NPHP3	Premature ovarian insufficiency	HP:0008209
27031	NPHP3	Progressive visual loss	HP:0000529
27031	NPHP3	Abnormality of retinal pigmentation	HP:0007703
27031	NPHP3	Inguinal hernia	HP:0000023
27031	NPHP3	Abnormal biliary tract morphology	HP:0012440
27031	NPHP3	Dandy-Walker malformation	HP:0001305
27031	NPHP3	Polyhydramnios	HP:0001561
27031	NPHP3	Hepatosplenomegaly	HP:0001433
27031	NPHP3	Oligohydramnios	HP:0001562
27031	NPHP3	Situs inversus totalis	HP:0001696
27031	NPHP3	Enuresis	HP:0000805
27031	NPHP3	Postaxial foot polydactyly	HP:0001830
27031	NPHP3	Polydipsia	HP:0001959
27031	NPHP3	Pulmonary hypoplasia	HP:0002089
27031	NPHP3	Retinal dystrophy	HP:0000556
27031	NPHP3	Congenital hepatic fibrosis	HP:0002612
27031	NPHP3	Biliary cirrhosis	HP:0002613
27031	NPHP3	Hypertension	HP:0000822
27031	NPHP3	Stage 5 chronic kidney disease	HP:0003774
27031	NPHP3	Hepatomegaly	HP:0002240
27031	NPHP3	Abnormal liver parenchyma morphology	HP:0030146
27031	NPHP3	Abnormality of the pancreas	HP:0001732
27031	NPHP3	Tubulointerstitial fibrosis	HP:0005576
27031	NPHP3	Pancreatic cysts	HP:0001737
27031	NPHP3	Asplenia	HP:0001746
27031	NPHP3	Cone-shaped epiphysis	HP:0010579
27031	NPHP3	Renal insufficiency	HP:0000083
27031	NPHP3	Polysplenia	HP:0001748
27031	NPHP3	Potter facies	HP:0002009
27031	NPHP3	Nephronophthisis	HP:0000090
27031	NPHP3	Tubular atrophy	HP:0000092
27031	NPHP3	High forehead	HP:0000348
27031	NPHP3	Atrial septal defect	HP:0001631
27031	NPHP3	Short stature	HP:0004322
27031	NPHP3	Ataxia	HP:0001251
27031	NPHP3	Polyuria	HP:0000103
27031	NPHP3	Enlarged kidney	HP:0000105
27031	NPHP3	Patent ductus arteriosus	HP:0001643
27031	NPHP3	Renal corticomedullary cysts	HP:0000108
27031	NPHP3	Renal dysplasia	HP:0000110
27031	NPHP3	Global developmental delay	HP:0001263
27031	NPHP3	Large fontanelles	HP:0000239
27031	NPHP3	Ureteral atresia	HP:0005999
27031	NPHP3	Polycystic kidney dysplasia	HP:0000113
27031	NPHP3	Aortic valve stenosis	HP:0001650
27031	NPHP3	Cirrhosis	HP:0001394
27031	NPHP3	Hepatic fibrosis	HP:0001395
27031	NPHP3	Cholestasis	HP:0001396
27031	NPHP3	Abnormality of bone mineral density	HP:0004348
27031	NPHP3	Hypertonia	HP:0001276
27031	NPHP3	Pancreatic fibrosis	HP:0100732
27031	NPHP3	Hepatic cysts	HP:0001407
27032	ATP2C1	Hyperkeratosis	HP:0000962
27032	ATP2C1	Autosomal dominant inheritance	HP:0000006
27032	ATP2C1	Skin vesicle	HP:0200037
27032	ATP2C1	Acantholysis	HP:0100792
27032	ATP2C1	Skin erosion	HP:0200041
27032	ATP2C1	Erythema	HP:0010783
125336	LOXHD1	Autosomal recessive inheritance	HP:0000007
125336	LOXHD1	Bilateral sensorineural hearing impairment	HP:0008619
117144	CATSPER1	Nonmotile sperm	HP:0012208
117144	CATSPER1	Male infertility	HP:0003251
117144	CATSPER1	Autosomal recessive inheritance	HP:0000007
117144	CATSPER1	Oligospermia	HP:0000798
117144	CATSPER1	Reduced sperm motility	HP:0012207
27034	ACAD8	Decreased plasma carnitine	HP:0003234
27034	ACAD8	Muscular hypotonia	HP:0001252
27034	ACAD8	Autosomal recessive inheritance	HP:0000007
27034	ACAD8	Dilated cardiomyopathy	HP:0001644
27034	ACAD8	Anemia	HP:0001903
338328	GPIHBP1	Hepatomegaly	HP:0002240
338328	GPIHBP1	Nausea and vomiting	HP:0002017
338328	GPIHBP1	Failure to thrive	HP:0001508
338328	GPIHBP1	Hyperlipoproteinemia	HP:0010980
338328	GPIHBP1	Acute pancreatitis	HP:0001735
338328	GPIHBP1	Autosomal recessive inheritance	HP:0000007
338328	GPIHBP1	Hypertriglyceridemia	HP:0002155
338328	GPIHBP1	Depressivity	HP:0000716
338328	GPIHBP1	Increased circulating chylomicron concentration	HP:0012238
338328	GPIHBP1	Episodic abdominal pain	HP:0002574
338328	GPIHBP1	Splenomegaly	HP:0001744
338328	GPIHBP1	Abnormal emotion/affect behavior	HP:0100851
338328	GPIHBP1	Memory impairment	HP:0002354
338328	GPIHBP1	Diabetes mellitus	HP:0000819
338328	GPIHBP1	Lipemia retinalis	HP:0000660
338328	GPIHBP1	Eruptive xanthomas	HP:0001013
338328	GPIHBP1	Hepatic steatosis	HP:0001397
338328	GPIHBP1	Dementia	HP:0000726
338328	GPIHBP1	Colitis	HP:0002583
338328	GPIHBP1	Jaundice	HP:0000952
338328	GPIHBP1	Hepatosplenomegaly	HP:0001433
338328	GPIHBP1	Recurrent pancreatitis	HP:0100027
338328	GPIHBP1	Pulmonary embolism	HP:0002204
338328	GPIHBP1	Perianal abscess	HP:0009789
10653	SPINT2	Macrocephaly	HP:0000256
10653	SPINT2	Choanal atresia	HP:0000453
10653	SPINT2	Intestinal malrotation	HP:0002566
10653	SPINT2	Abdominal distention	HP:0003270
10653	SPINT2	Anal atresia	HP:0002023
10653	SPINT2	Autosomal recessive inheritance	HP:0000007
10653	SPINT2	Ureteral duplication	HP:0000073
10653	SPINT2	Optic nerve coloboma	HP:0000588
10653	SPINT2	Cutis laxa	HP:0000973
10653	SPINT2	Rectovaginal fistula	HP:0000143
10653	SPINT2	Low-set ears	HP:0000369
10653	SPINT2	Abnormality of metabolism/homeostasis	HP:0001939
10653	SPINT2	Corneal erosion	HP:0200020
10653	SPINT2	Secretory diarrhea	HP:0005208
10653	SPINT2	Polyhydramnios	HP:0001561
10653	SPINT2	Hypertelorism	HP:0000316
10654	PMVK	Cutaneous photosensitivity	HP:0000992
10654	PMVK	Aplasia/Hypoplasia of the skin	HP:0008065
10654	PMVK	Hyperkeratosis	HP:0000962
10654	PMVK	Abnormality of chromosome stability	HP:0003220
10654	PMVK	Neoplasm of the skin	HP:0008069
10654	PMVK	Autosomal dominant inheritance	HP:0000006
10654	PMVK	Middle age onset	HP:0003596
10654	PMVK	Pruritus	HP:0000989
10654	PMVK	Porokeratosis	HP:0200044
2464	FRA16E	Seizures	HP:0001250
2464	FRA16E	Behavioral abnormality	HP:0000708
2464	FRA16E	Abnormality of cardiovascular system morphology	HP:0030680
2464	FRA16E	Generalized hypotonia	HP:0001290
2464	FRA16E	Delayed speech and language development	HP:0000750
2464	FRA16E	Global developmental delay	HP:0001263
2464	FRA16E	Abnormal facial shape	HP:0001999
27040	LAT	Thrombocytopenia	HP:0001873
27040	LAT	Immunodeficiency	HP:0002721
27040	LAT	Hemolytic anemia	HP:0001878
27040	LAT	Decreased antibody level in blood	HP:0004313
27040	LAT	Lymphadenopathy	HP:0002716
27040	LAT	Immune dysregulation	HP:0002958
27040	LAT	Recurrent infections	HP:0002719
117155	CATSPER2	Nonmotile sperm	HP:0012208
117155	CATSPER2	Male infertility	HP:0003251
117155	CATSPER2	Sensorineural hearing impairment	HP:0000407
117155	CATSPER2	Autosomal recessive inheritance	HP:0000007
117155	CATSPER2	Azoospermia	HP:0000027
117155	CATSPER2	Bilateral sensorineural hearing impairment	HP:0008619
117155	CATSPER2	Abnormal spermatogenesis	HP:0008669
117155	CATSPER2	Oligospermia	HP:0000798
117155	CATSPER2	Reduced sperm motility	HP:0012207
92579	G6PC3	Pectus carinatum	HP:0000768
92579	G6PC3	Hepatomegaly	HP:0002240
92579	G6PC3	Clinodactyly	HP:0030084
92579	G6PC3	Sepsis	HP:0100806
92579	G6PC3	Autosomal recessive inheritance	HP:0000007
92579	G6PC3	Hypoplasia of the thymus	HP:0000778
92579	G6PC3	Splenomegaly	HP:0001744
92579	G6PC3	Thrombocytopenia	HP:0001873
92579	G6PC3	Neutropenia	HP:0001875
92579	G6PC3	Cor triatriatum	HP:0010774
92579	G6PC3	Monocytosis	HP:0012311
92579	G6PC3	High palate	HP:0000218
92579	G6PC3	Cryptorchidism	HP:0000028
92579	G6PC3	Recurrent respiratory infections	HP:0002205
92579	G6PC3	Recurrent bacterial infections	HP:0002718
92579	G6PC3	Atrial septal defect	HP:0001631
92579	G6PC3	Lymphopenia	HP:0001888
92579	G6PC3	Failure to thrive	HP:0001508
92579	G6PC3	Erythroid hypoplasia	HP:0012133
92579	G6PC3	Growth delay	HP:0001510
92579	G6PC3	Broad thumb	HP:0011304
92579	G6PC3	Pulmonic stenosis	HP:0001642
92579	G6PC3	Patent ductus arteriosus	HP:0001643
92579	G6PC3	Pulmonary arterial hypertension	HP:0002092
92579	G6PC3	Respiratory insufficiency	HP:0002093
92579	G6PC3	Hearing impairment	HP:0000365
92579	G6PC3	Global developmental delay	HP:0001263
92579	G6PC3	Anemia	HP:0001903
92579	G6PC3	Cleft palate	HP:0000175
92579	G6PC3	Wide nasal bridge	HP:0000431
92579	G6PC3	Mitral regurgitation	HP:0001653
92579	G6PC3	Single transverse palmar crease	HP:0000954
92579	G6PC3	Varicose veins	HP:0002619
92579	G6PC3	Microcephaly	HP:0000252
92579	G6PC3	Hydronephrosis	HP:0000126
10661	KLF1	Persistence of hemoglobin F	HP:0011904
10661	KLF1	Hepatomegaly	HP:0002240
10661	KLF1	Abnormal bone structure	HP:0003330
10661	KLF1	Short stature	HP:0004322
10661	KLF1	Reticulocytosis	HP:0001923
10661	KLF1	Erythroid hyperplasia	HP:0012132
10661	KLF1	Autosomal dominant inheritance	HP:0000006
10661	KLF1	Hypertrophic cardiomyopathy	HP:0001639
10661	KLF1	Anemia	HP:0001903
10661	KLF1	Splenomegaly	HP:0001744
10661	KLF1	Pallor	HP:0000980
10661	KLF1	Hyperbilirubinemia	HP:0002904
10661	KLF1	Congenital onset	HP:0003577
10661	KLF1	Absence of Lutheran antigen on erythrocytes	HP:0010971
10661	KLF1	Anemia of inadequate production	HP:0010972
10661	KLF1	Hydrops fetalis	HP:0001789
51621	KLF13	Seizures	HP:0001250
51621	KLF13	Brachydactyly	HP:0001156
51621	KLF13	Behavioral abnormality	HP:0000708
51621	KLF13	Muscular hypotonia	HP:0001252
51621	KLF13	Intellectual disability, moderate	HP:0002342
51621	KLF13	Autosomal dominant inheritance	HP:0000006
51621	KLF13	Strabismus	HP:0000486
51621	KLF13	Intellectual disability, mild	HP:0001256
51621	KLF13	Abnormal facial shape	HP:0001999
51621	KLF13	Intellectual disability, severe	HP:0010864
51621	KLF13	Specific learning disability	HP:0001328
51621	KLF13	Clinodactyly of the 5th finger	HP:0004209
51621	KLF13	Abnormality of the palpebral fissures	HP:0008050
51621	KLF13	Incomplete penetrance	HP:0003829
51621	KLF13	Synophrys	HP:0000664
51621	KLF13	Abnormality of cardiovascular system morphology	HP:0030680
51621	KLF13	Abnormality of the pinna	HP:0000377
51621	KLF13	Hypertelorism	HP:0000316
10664	CTCF	Feeding difficulties	HP:0011968
10664	CTCF	Intellectual disability	HP:0001249
10664	CTCF	Short stature	HP:0004322
10664	CTCF	Abnormality of the dentition	HP:0000164
10664	CTCF	Autosomal dominant inheritance	HP:0000006
10664	CTCF	Strabismus	HP:0000486
10664	CTCF	Thin vermilion border	HP:0000233
10664	CTCF	Generalized hypotonia	HP:0001290
10664	CTCF	Patent ductus arteriosus	HP:0001643
10664	CTCF	Global developmental delay	HP:0001263
10664	CTCF	Cleft palate	HP:0000175
10664	CTCF	Coarctation of aorta	HP:0001680
10664	CTCF	Autistic behavior	HP:0000729
10664	CTCF	Hypermetropia	HP:0000540
10664	CTCF	Microcephaly	HP:0000252
10664	CTCF	Cryptorchidism	HP:0000028
10664	CTCF	Atrial septal defect	HP:0001631
51626	DYNC2LI1	Brachydactyly	HP:0001156
51626	DYNC2LI1	Abnormality of the ribs	HP:0000772
51626	DYNC2LI1	Short ribs	HP:0000773
51626	DYNC2LI1	Narrow chest	HP:0000774
51626	DYNC2LI1	Autosomal recessive inheritance	HP:0000007
51626	DYNC2LI1	Abnormality of female internal genitalia	HP:0000008
51626	DYNC2LI1	Hypoplastic toenails	HP:0001800
51626	DYNC2LI1	Hand polydactyly	HP:0001161
51626	DYNC2LI1	Postaxial hand polydactyly	HP:0001162
51626	DYNC2LI1	Coarctation of aorta	HP:0001680
51626	DYNC2LI1	Vaginal atresia	HP:0000148
51626	DYNC2LI1	Abnormality of retinal pigmentation	HP:0007703
51626	DYNC2LI1	Cubitus valgus	HP:0002967
51626	DYNC2LI1	Polyhydramnios	HP:0001561
51626	DYNC2LI1	Short distal phalanx of finger	HP:0009882
51626	DYNC2LI1	Hypodontia	HP:0000668
51626	DYNC2LI1	Cryptorchidism	HP:0000028
51626	DYNC2LI1	Epicanthus	HP:0000286
51626	DYNC2LI1	Situs inversus totalis	HP:0001696
51626	DYNC2LI1	Depressed nasal bridge	HP:0005280
51626	DYNC2LI1	Foot polydactyly	HP:0001829
51626	DYNC2LI1	Postaxial foot polydactyly	HP:0001830
51626	DYNC2LI1	Micromelia	HP:0002983
51626	DYNC2LI1	Atrioventricular canal defect	HP:0006695
51626	DYNC2LI1	Epispadias	HP:0000039
51626	DYNC2LI1	Feeding difficulties in infancy	HP:0008872
51626	DYNC2LI1	Genu valgum	HP:0002857
51626	DYNC2LI1	Delayed eruption of teeth	HP:0000684
51626	DYNC2LI1	Respiratory insufficiency	HP:0002093
51626	DYNC2LI1	Aplasia/Hypoplasia of the lungs	HP:0006703
51626	DYNC2LI1	Hypospadias	HP:0000047
51626	DYNC2LI1	Abnormality of the metaphysis	HP:0000944
51626	DYNC2LI1	Emphysema	HP:0002097
51626	DYNC2LI1	Microdontia	HP:0000691
51626	DYNC2LI1	Abnormal oral mucosa morphology	HP:0011830
51626	DYNC2LI1	Synostosis of carpal bones	HP:0005048
51626	DYNC2LI1	Acute leukemia	HP:0002488
51626	DYNC2LI1	Abnormality of bone marrow cell morphology	HP:0005561
51626	DYNC2LI1	Conical incisor	HP:0011065
51626	DYNC2LI1	Hydrometrocolpos	HP:0030010
51626	DYNC2LI1	Increased number of teeth	HP:0011069
51626	DYNC2LI1	Delayed skeletal maturation	HP:0002750
51626	DYNC2LI1	Abnormal oral frenulum morphology	HP:0000190
51626	DYNC2LI1	Accessory oral frenulum	HP:0000191
51626	DYNC2LI1	Hepatomegaly	HP:0002240
51626	DYNC2LI1	Short thorax	HP:0010306
51626	DYNC2LI1	Hamartoma	HP:0010566
51626	DYNC2LI1	Hydroureter	HP:0000072
51626	DYNC2LI1	Abnormal fingernail morphology	HP:0001231
51626	DYNC2LI1	Splenomegaly	HP:0001744
51626	DYNC2LI1	Renal insufficiency	HP:0000083
51626	DYNC2LI1	Cone-shaped epiphysis	HP:0010579
51626	DYNC2LI1	Abnormality of pelvic girdle bone morphology	HP:0002644
51626	DYNC2LI1	Capitate-hamate fusion	HP:0001241
51626	DYNC2LI1	Neonatal short-limb short stature	HP:0008921
51626	DYNC2LI1	Nephronophthisis	HP:0000090
51626	DYNC2LI1	Skeletal dysplasia	HP:0002652
51626	DYNC2LI1	Ventricular septal defect	HP:0001629
51626	DYNC2LI1	Atrial septal defect	HP:0001631
51626	DYNC2LI1	Intellectual disability	HP:0001249
51626	DYNC2LI1	Short stature	HP:0004322
51626	DYNC2LI1	Abnormal hair quantity	HP:0011362
51626	DYNC2LI1	Failure to thrive	HP:0001508
51626	DYNC2LI1	Renal hypoplasia/aplasia	HP:0008678
51626	DYNC2LI1	Strabismus	HP:0000486
51626	DYNC2LI1	Intrauterine growth retardation	HP:0001511
51626	DYNC2LI1	Thin vermilion border	HP:0000233
51626	DYNC2LI1	Toe syndactyly	HP:0001770
51626	DYNC2LI1	Patent ductus arteriosus	HP:0001643
51626	DYNC2LI1	Short foot	HP:0001773
51626	DYNC2LI1	Downslanted palpebral fissures	HP:0000494
51626	DYNC2LI1	Abnormality of the liver	HP:0001392
51626	DYNC2LI1	Nephropathy	HP:0000112
51626	DYNC2LI1	Low-set ears	HP:0000369
51626	DYNC2LI1	Nail dysplasia	HP:0002164
51626	DYNC2LI1	Abnormal heart valve morphology	HP:0001654
51626	DYNC2LI1	Horizontal ribs	HP:0000888
51626	DYNC2LI1	Abnormality of the clavicle	HP:0000889
51626	DYNC2LI1	Abnormality of the sternum	HP:0000766
51626	DYNC2LI1	Short clavicles	HP:0000894
2475	MTOR	Macrocephaly	HP:0000256
2475	MTOR	Short proximal phalanx of finger	HP:0010241
2475	MTOR	Umbilical hernia	HP:0001537
2475	MTOR	Open mouth	HP:0000194
2475	MTOR	Focal white matter lesions	HP:0007042
2475	MTOR	Diastasis recti	HP:0001540
2475	MTOR	Wide anterior fontanel	HP:0000260
2475	MTOR	Autosomal dominant inheritance	HP:0000006
2475	MTOR	Rhizomelia	HP:0008905
2475	MTOR	Infantile onset	HP:0003593
2475	MTOR	Generalized hypotonia	HP:0001290
2475	MTOR	Short chin	HP:0000331
2475	MTOR	Deep plantar creases	HP:0001869
2475	MTOR	Astrocytosis	HP:0002446
2475	MTOR	Focal impaired awareness seizure	HP:0002384
2475	MTOR	Thrombocytopenia	HP:0001873
2475	MTOR	Somatic mutation	HP:0001428
2475	MTOR	Frontal bossing	HP:0002007
2475	MTOR	Long philtrum	HP:0000343
2475	MTOR	Hypoglycemia	HP:0001943
2475	MTOR	Midface retrusion	HP:0011800
2475	MTOR	Wide mouth	HP:0000154
2475	MTOR	Short distal phalanx of finger	HP:0009882
2475	MTOR	Thin upper lip vermilion	HP:0000219
2475	MTOR	High forehead	HP:0000348
2475	MTOR	Depressed nasal bridge	HP:0005280
2475	MTOR	Decreased circulating IgA level	HP:0002720
2475	MTOR	Intellectual disability	HP:0001249
2475	MTOR	Sporadic	HP:0003745
2475	MTOR	Seizures	HP:0001250
2475	MTOR	Curly hair	HP:0002212
2475	MTOR	Strabismus	HP:0000486
2475	MTOR	Hemimegalencephaly	HP:0007206
2475	MTOR	Perisylvian polymicrogyria	HP:0012650
2475	MTOR	Cortical dysplasia	HP:0002539
2475	MTOR	Downslanted palpebral fissures	HP:0000494
2475	MTOR	Deep palmar crease	HP:0006191
2475	MTOR	Focal cortical dysplasia type II	HP:0032051
2475	MTOR	Hemiparesis	HP:0001269
2475	MTOR	Short nose	HP:0003196
2475	MTOR	Hypertelorism	HP:0000316
2475	MTOR	Cafe-au-lait spot	HP:0000957
2475	MTOR	Adult onset	HP:0003581
2475	MTOR	Cognitive impairment	HP:0100543
2475	MTOR	Smooth philtrum	HP:0000319
10667	FARS2	Feeding difficulties	HP:0011968
10667	FARS2	Hyperreflexia	HP:0001347
10667	FARS2	Atrophy/Degeneration affecting the brainstem	HP:0007366
10667	FARS2	Autosomal recessive inheritance	HP:0000007
10667	FARS2	Ventriculomegaly	HP:0002119
10667	FARS2	Generalized hypotonia	HP:0001290
10667	FARS2	Diffuse cerebral atrophy	HP:0002506
10667	FARS2	Cerebral atrophy	HP:0002059
10667	FARS2	Thrombocytopenia	HP:0001873
10667	FARS2	Aminoaciduria	HP:0003355
10667	FARS2	Slow progression	HP:0003677
10667	FARS2	Babinski sign	HP:0003487
10667	FARS2	Seizures	HP:0001250
10667	FARS2	Growth delay	HP:0001510
10667	FARS2	Increased serum lactate	HP:0002151
10667	FARS2	Spastic paraplegia	HP:0001258
10667	FARS2	Lower limb amyotrophy	HP:0007210
10667	FARS2	Hearing impairment	HP:0000365
10667	FARS2	Global developmental delay	HP:0001263
10667	FARS2	Anemia	HP:0001903
10667	FARS2	EEG abnormality	HP:0002353
10667	FARS2	Death in infancy	HP:0001522
10667	FARS2	Variable expressivity	HP:0003828
10667	FARS2	Myoclonus	HP:0001336
10667	FARS2	Cerebellar atrophy	HP:0001272
10667	FARS2	Lactic acidosis	HP:0003128
10667	FARS2	Visual impairment	HP:0000505
10667	FARS2	Gliosis	HP:0002171
10667	FARS2	Microcephaly	HP:0000252
51633	OTUD6B	Autosomal recessive inheritance	HP:0000007
51633	OTUD6B	Generalized hypotonia	HP:0001290
51633	OTUD6B	Arachnodactyly	HP:0001166
51633	OTUD6B	Long eyelashes	HP:0000527
51633	OTUD6B	Macrotia	HP:0000400
51633	OTUD6B	Long face	HP:0000276
51633	OTUD6B	Retrognathia	HP:0000278
51633	OTUD6B	Protruding ear	HP:0000411
51633	OTUD6B	Cryptorchidism	HP:0000028
51633	OTUD6B	Tapered finger	HP:0001182
51633	OTUD6B	Hypoplasia of the corpus callosum	HP:0002079
51633	OTUD6B	Chronic constipation	HP:0012450
51633	OTUD6B	Hyperextensibility of the finger joints	HP:0001187
51633	OTUD6B	Broad thumb	HP:0011304
51633	OTUD6B	Prominent nasal bridge	HP:0000426
51633	OTUD6B	Wide nasal bridge	HP:0000431
51633	OTUD6B	Limb joint contracture	HP:0003121
51633	OTUD6B	Cerebral palsy	HP:0100021
51633	OTUD6B	Overlapping toe	HP:0001845
51633	OTUD6B	Wide nose	HP:0000445
51633	OTUD6B	Sacral dimple	HP:0000960
51633	OTUD6B	Feeding difficulties	HP:0011968
51633	OTUD6B	Absent speech	HP:0001344
51633	OTUD6B	Aplasia/Hypoplasia of the external ear	HP:0008772
51633	OTUD6B	Ventriculomegaly	HP:0002119
51633	OTUD6B	Cerebral cortical atrophy	HP:0002120
51633	OTUD6B	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
51633	OTUD6B	Spastic tetraplegia	HP:0002510
51633	OTUD6B	Short neck	HP:0000470
51633	OTUD6B	Long philtrum	HP:0000343
51633	OTUD6B	Autistic behavior	HP:0000729
51633	OTUD6B	Scoliosis	HP:0002650
51633	OTUD6B	High palate	HP:0000218
51633	OTUD6B	Thin upper lip vermilion	HP:0000219
51633	OTUD6B	Flexion contracture	HP:0001371
51633	OTUD6B	Flat occiput	HP:0005469
51633	OTUD6B	Ventricular septal defect	HP:0001629
51633	OTUD6B	Atrial septal defect	HP:0001631
51633	OTUD6B	Short stature	HP:0004322
51633	OTUD6B	Talipes equinovarus	HP:0001762
51633	OTUD6B	Seizures	HP:0001250
51633	OTUD6B	Ataxia	HP:0001251
51633	OTUD6B	Failure to thrive	HP:0001508
51633	OTUD6B	Intrauterine growth retardation	HP:0001511
51633	OTUD6B	Toe syndactyly	HP:0001770
51633	OTUD6B	Inability to walk	HP:0002540
51633	OTUD6B	Hearing impairment	HP:0000365
51633	OTUD6B	Downslanted palpebral fissures	HP:0000494
51633	OTUD6B	Global developmental delay	HP:0001263
51633	OTUD6B	Intellectual disability, severe	HP:0010864
51633	OTUD6B	Low-set ears	HP:0000369
51633	OTUD6B	Brachycephaly	HP:0000248
51633	OTUD6B	Highly arched eyebrow	HP:0002553
51633	OTUD6B	Microcephaly	HP:0000252
51633	OTUD6B	Long palpebral fissure	HP:0000637
2483	FRG1	EMG abnormality	HP:0003457
2483	FRG1	Skeletal muscle atrophy	HP:0003202
2483	FRG1	Facial palsy	HP:0010628
2483	FRG1	Autosomal dominant inheritance	HP:0000006
2483	FRG1	Exudative retinal detachment	HP:0012231
2483	FRG1	Childhood onset	HP:0011463
2483	FRG1	Beevor's sign	HP:0030664
2483	FRG1	Scapulohumeral muscular dystrophy	HP:0008970
2483	FRG1	Shoulder girdle muscle atrophy	HP:0003724
2483	FRG1	Retinal telangiectasia	HP:0007763
2483	FRG1	Calf muscle hypertrophy	HP:0008981
2483	FRG1	Sensorineural hearing impairment	HP:0000407
2483	FRG1	Abnormality of cardiovascular system morphology	HP:0030680
2483	FRG1	Shoulder girdle muscle weakness	HP:0003547
2483	FRG1	Slow progression	HP:0003677
2483	FRG1	Dysphagia	HP:0002015
2483	FRG1	External ophthalmoplegia	HP:0000544
2483	FRG1	Intellectual disability	HP:0001249
2483	FRG1	Seizures	HP:0001250
2483	FRG1	Elevated serum creatine kinase	HP:0003236
2483	FRG1	Mask-like facies	HP:0000298
2483	FRG1	Hyperlordosis	HP:0003307
2483	FRG1	Scapular winging	HP:0003691
2483	FRG1	Abnormal retinal vascular morphology	HP:0008046
2483	FRG1	Abnormal eyelash morphology	HP:0000499
2483	FRG1	Tongue atrophy	HP:0012473
2483	FRG1	Palpebral edema	HP:0100540
2483	FRG1	Restrictive deficit on pulmonary function testing	HP:0002111
2483	FRG1	Abdominal wall muscle weakness	HP:0009023
109580095	HBB-LCR	Reduced beta/alpha synthesis ratio	HP:0011906
109580095	HBB-LCR	Hypochromic microcytic anemia	HP:0004840
27063	ANKRD1	EMG abnormality	HP:0003457
27063	ANKRD1	Abnormality of neutrophils	HP:0001874
27063	ANKRD1	Lipoatrophy	HP:0100578
27063	ANKRD1	Elevated serum creatine kinase	HP:0003236
27063	ANKRD1	Palmoplantar keratoderma	HP:0000982
27063	ANKRD1	Sensorineural hearing impairment	HP:0000407
27063	ANKRD1	Dilated cardiomyopathy	HP:0001644
27063	ANKRD1	Myopathy	HP:0003198
2488	FSHB	Abnormal sperm morphology	HP:0012864
2488	FSHB	Decreased female libido	HP:0030018
2488	FSHB	Female hypogonadism	HP:0000134
2488	FSHB	Hypogonadism	HP:0000135
2488	FSHB	Autosomal recessive inheritance	HP:0000007
2488	FSHB	Bilateral breast hypoplasia	HP:0012814
2488	FSHB	Primary amenorrhea	HP:0000786
2488	FSHB	Abnormality of metabolism/homeostasis	HP:0001939
2488	FSHB	Infertility	HP:0000789
2488	FSHB	Gonadotropin deficiency	HP:0008213
2488	FSHB	Decreased serum estradiol	HP:0008214
2488	FSHB	Delayed menarche	HP:0012569
2488	FSHB	Male hypogonadism	HP:0000026
2488	FSHB	Azoospermia	HP:0000027
2488	FSHB	Testicular atrophy	HP:0000029
2488	FSHB	Decreased testicular size	HP:0008734
2488	FSHB	Oligospermia	HP:0000798
2488	FSHB	Hyperplasia of the Leydig cells	HP:0010791
2488	FSHB	Sparse axillary hair	HP:0002215
2488	FSHB	Decreased serum testosterone level	HP:0040171
2488	FSHB	Oligomenorrhea	HP:0000876
2488	FSHB	Hypogonadotrophic hypogonadism	HP:0000044
2488	FSHB	Sparse pubic hair	HP:0002225
2488	FSHB	Delayed skeletal maturation	HP:0002750
2488	FSHB	Decreased muscle mass	HP:0003199
10681	GNB5	Abnormal electroretinogram	HP:0000512
10681	GNB5	Intellectual disability	HP:0001249
10681	GNB5	Poor fine motor coordination	HP:0007010
10681	GNB5	Seizures	HP:0001250
10681	GNB5	Retinal degeneration	HP:0000546
10681	GNB5	Autosomal recessive inheritance	HP:0000007
10681	GNB5	Attention deficit hyperactivity disorder	HP:0007018
10681	GNB5	Generalized hypotonia	HP:0001290
10681	GNB5	Delayed speech and language development	HP:0000750
10681	GNB5	Global developmental delay	HP:0001263
10681	GNB5	Sick sinus syndrome	HP:0011704
10681	GNB5	Bradycardia	HP:0001662
10681	GNB5	Nystagmus	HP:0000639
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	Abnormal fingernail morphology	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	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	Bilateral talipes equinovarus	HP:0001776
10682	EBP	Concave nasal ridge	HP:0011120
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	Abnormality of the pinna	HP:0000377
10682	EBP	Hemivertebrae	HP:0002937
10682	EBP	Congenital onset	HP:0003577
10682	EBP	Erythroderma	HP:0001019
10682	EBP	Hypertonia	HP:0001276
10682	EBP	Ptosis	HP:0000508
10682	EBP	Abnormality of the thorax	HP:0000765
10682	EBP	Hydronephrosis	HP:0000126
10682	EBP	Nystagmus	HP:0000639
10683	DLL3	Macrocephaly	HP:0000256
10683	DLL3	Disproportionate short-trunk short stature	HP:0003521
10683	DLL3	Umbilical hernia	HP:0001537
10683	DLL3	Short thorax	HP:0010306
10683	DLL3	Meningocele	HP:0002435
10683	DLL3	Abnormality of the ureter	HP:0000069
10683	DLL3	Abdominal distention	HP:0003270
10683	DLL3	Rib fusion	HP:0000902
10683	DLL3	Autosomal recessive inheritance	HP:0000007
10683	DLL3	Abnormality of female internal genitalia	HP:0000008
10683	DLL3	Congenital diaphragmatic hernia	HP:0000776
10683	DLL3	Camptodactyly of finger	HP:0100490
10683	DLL3	Prominent occiput	HP:0000269
10683	DLL3	Anteverted nares	HP:0000463
10683	DLL3	Broad forehead	HP:0000337
10683	DLL3	Anomalous pulmonary venous return	HP:0010772
10683	DLL3	Finger syndactyly	HP:0006101
10683	DLL3	Short neck	HP:0000470
10683	DLL3	Inguinal hernia	HP:0000023
10683	DLL3	Long philtrum	HP:0000343
10683	DLL3	Back pain	HP:0003418
10683	DLL3	Scoliosis	HP:0002650
10683	DLL3	Cryptorchidism	HP:0000028
10683	DLL3	Recurrent respiratory infections	HP:0002205
10683	DLL3	Vertebral segmentation defect	HP:0003422
10683	DLL3	Depressed nasal bridge	HP:0005280
10683	DLL3	Intellectual disability	HP:0001249
10683	DLL3	Short stature	HP:0004322
10683	DLL3	Spina bifida occulta	HP:0003298
10683	DLL3	Abnormality of immune system physiology	HP:0010978
10683	DLL3	Intrauterine growth retardation	HP:0001511
10683	DLL3	Block vertebrae	HP:0003305
10683	DLL3	Urogenital fistula	HP:0100589
10683	DLL3	Respiratory insufficiency	HP:0002093
10683	DLL3	Abnormality of the odontoid process	HP:0003310
10683	DLL3	Cleft palate	HP:0000175
10683	DLL3	Hypospadias	HP:0000047
10683	DLL3	Abnormal form of the vertebral bodies	HP:0003312
10683	DLL3	Low-set, posteriorly rotated ears	HP:0000368
10683	DLL3	Death in infancy	HP:0001522
10683	DLL3	Abnormality of the intervertebral disk	HP:0005108
10683	DLL3	Severe short stature	HP:0003510
10683	DLL3	Kyphosis	HP:0002808
10683	DLL3	Hemivertebrae	HP:0002937
10683	DLL3	Microcephaly	HP:0000252
10683	DLL3	Kyphoscoliosis	HP:0002751
10683	DLL3	Rib segmentation abnormalities	HP:0006655
27068	PPA2	Seizures	HP:0001250
27068	PPA2	Myocarditis	HP:0012819
27068	PPA2	Congestive heart failure	HP:0001635
27068	PPA2	Myocardial fibrosis	HP:0001685
27068	PPA2	Metabolic acidosis	HP:0001942
27068	PPA2	Autosomal recessive inheritance	HP:0000007
27068	PPA2	Hypertrophic cardiomyopathy	HP:0001639
27068	PPA2	Generalized hypotonia	HP:0001290
27068	PPA2	Bradycardia	HP:0001662
2492	FSHR	Ascites	HP:0001541
2492	FSHR	Increased circulating gonadotropin level	HP:0000837
2492	FSHR	Gonadal dysgenesis	HP:0000133
2492	FSHR	Autosomal dominant inheritance	HP:0000006
2492	FSHR	Abdominal distention	HP:0003270
2492	FSHR	Generalized edema	HP:0007430
2492	FSHR	Aplasia/Hypoplasia of the breasts	HP:0010311
2492	FSHR	Autosomal recessive inheritance	HP:0000007
2492	FSHR	Increased serum testosterone level	HP:0030088
2492	FSHR	Arachnodactyly	HP:0001166
2492	FSHR	Decreased fertility	HP:0000144
2492	FSHR	Premature ovarian insufficiency	HP:0008209
2492	FSHR	Primary amenorrhea	HP:0000786
2492	FSHR	Abnormality of metabolism/homeostasis	HP:0001939
2492	FSHR	Decreased serum estradiol	HP:0008214
2492	FSHR	Hemorrhagic ovarian cyst	HP:0012886
2492	FSHR	Pleural effusion	HP:0002202
2492	FSHR	Pulmonary fibrosis	HP:0002206
2492	FSHR	Streak ovary	HP:0010464
2492	FSHR	Nausea	HP:0002018
2492	FSHR	Short stature	HP:0004322
2492	FSHR	Hypovolemia	HP:0011106
2492	FSHR	Ataxia	HP:0001251
2492	FSHR	Enlarged polycystic ovaries	HP:0008675
2492	FSHR	Secondary amenorrhea	HP:0000869
2492	FSHR	Osteopenia	HP:0000938
2492	FSHR	Abdominal pain	HP:0002027
2492	FSHR	Osteoporosis	HP:0000939
2492	FSHR	Aplasia/hypoplasia of the uterus	HP:0008684
2492	FSHR	Hearing impairment	HP:0000365
2492	FSHR	Peripheral edema	HP:0012398
2492	FSHR	Hirsutism	HP:0001007
2492	FSHR	Sparse pubic hair	HP:0002225
2492	FSHR	Capillary leak	HP:0030005
2492	FSHR	Abnormality of the genitourinary system	HP:0000119
2492	FSHR	Delayed puberty	HP:0000823
2492	FSHR	Pulmonary edema	HP:0100598
2492	FSHR	Osteoporosis of vertebrae	HP:0005625
2492	FSHR	Microcephaly	HP:0000252
2492	FSHR	Delayed skeletal maturation	HP:0002750
10686	CLDN16	Hypermagnesiuria	HP:0012608
10686	CLDN16	Tetany	HP:0001281
10686	CLDN16	Autosomal recessive inheritance	HP:0000007
10686	CLDN16	Recurrent urinary tract infections	HP:0000010
10686	CLDN16	Chronic kidney disease	HP:0012622
10686	CLDN16	Nephrolithiasis	HP:0000787
10686	CLDN16	Hematuria	HP:0000790
10686	CLDN16	Renal tubular acidosis	HP:0001947
10686	CLDN16	Hypermetropia	HP:0000540
10686	CLDN16	Renal calcium wasting	HP:0012637
10686	CLDN16	Myopia	HP:0000545
10686	CLDN16	Seizures	HP:0001250
10686	CLDN16	Astigmatism	HP:0000483
10686	CLDN16	Failure to thrive	HP:0001508
10686	CLDN16	Juvenile onset	HP:0003621
10686	CLDN16	Hypomagnesemia	HP:0002917
10686	CLDN16	Hyperuricemia	HP:0002149
10686	CLDN16	Strabismus	HP:0000486
10686	CLDN16	Hypercalciuria	HP:0002150
10686	CLDN16	Polyuria	HP:0000103
10686	CLDN16	Polydipsia	HP:0001959
10686	CLDN16	Feeding difficulties in infancy	HP:0008872
10686	CLDN16	Abdominal pain	HP:0002027
10686	CLDN16	Hypocitraturia	HP:0012405
10686	CLDN16	Nephrocalcinosis	HP:0000121
10686	CLDN16	Nystagmus	HP:0000639
10686	CLDN16	Renal magnesium wasting	HP:0005567
2495	FTH1	Increased serum ferritin	HP:0003281
2495	FTH1	Autosomal dominant inheritance	HP:0000006
92609	TIMM50	Delayed ability to walk	HP:0031936
92609	TIMM50	Absent speech	HP:0001344
92609	TIMM50	Failure to thrive	HP:0001508
92609	TIMM50	Abnormality of the cerebral white matter	HP:0002500
92609	TIMM50	Increased serum lactate	HP:0002151
92609	TIMM50	Spasticity	HP:0001257
92609	TIMM50	Generalized hypotonia	HP:0001290
92609	TIMM50	Cerebral atrophy	HP:0002059
92609	TIMM50	Muscle weakness	HP:0001324
92609	TIMM50	Global developmental delay	HP:0001263
92609	TIMM50	3-Methylglutaconic aciduria	HP:0003535
92609	TIMM50	Intellectual disability, severe	HP:0010864
92609	TIMM50	Hypsarrhythmia	HP:0002521
92609	TIMM50	Clonus	HP:0002169
51651	PTRH2	Hepatomegaly	HP:0002240
51651	PTRH2	Exotropia	HP:0000577
51651	PTRH2	Autosomal recessive inheritance	HP:0000007
51651	PTRH2	Generalized hypotonia	HP:0001290
51651	PTRH2	Steatorrhea	HP:0002570
51651	PTRH2	Hip dislocation	HP:0002827
51651	PTRH2	Sensorineural hearing impairment	HP:0000407
51651	PTRH2	Proximal placement of thumb	HP:0009623
51651	PTRH2	Midface retrusion	HP:0011800
51651	PTRH2	Thin upper lip vermilion	HP:0000219
51651	PTRH2	Progressive	HP:0003676
51651	PTRH2	Distal muscle weakness	HP:0002460
51651	PTRH2	Intellectual disability	HP:0001249
51651	PTRH2	Talipes equinovarus	HP:0001762
51651	PTRH2	Short stature	HP:0004322
51651	PTRH2	Ataxia	HP:0001251
51651	PTRH2	Failure to thrive	HP:0001508
51651	PTRH2	Global developmental delay	HP:0001263
51651	PTRH2	Shawl scrotum	HP:0000049
51651	PTRH2	Hepatic fibrosis	HP:0001395
51651	PTRH2	Hypothyroidism	HP:0000821
51651	PTRH2	Brachycephaly	HP:0000248
51651	PTRH2	Cerebellar atrophy	HP:0001272
51651	PTRH2	Congenital onset	HP:0003577
51651	PTRH2	Hypertelorism	HP:0000316
51651	PTRH2	Pancreatic fibrosis	HP:0100732
51651	PTRH2	Progressive microcephaly	HP:0000253
27077	B9D1	Multicystic kidney dysplasia	HP:0000003
27077	B9D1	Cataract	HP:0000518
27077	B9D1	Sclerocornea	HP:0000647
27077	B9D1	Autosomal recessive inheritance	HP:0000007
27077	B9D1	Optic atrophy	HP:0000648
27077	B9D1	Gait disturbance	HP:0001288
27077	B9D1	Hand polydactyly	HP:0001161
27077	B9D1	Postaxial hand polydactyly	HP:0001162
27077	B9D1	Generalized hypotonia	HP:0001290
27077	B9D1	Anophthalmia	HP:0000528
27077	B9D1	Oculomotor apraxia	HP:0000657
27077	B9D1	Anencephaly	HP:0002323
27077	B9D1	Abnormal chorioretinal morphology	HP:0000532
27077	B9D1	Long face	HP:0000276
27077	B9D1	Dandy-Walker malformation	HP:0001305
27077	B9D1	Preaxial hand polydactyly	HP:0001177
27077	B9D1	Oligohydramnios	HP:0001562
27077	B9D1	Cryptorchidism	HP:0000028
27077	B9D1	Situs inversus totalis	HP:0001696
27077	B9D1	Encephalocele	HP:0002084
27077	B9D1	Abnormality of the posterior cranial fossa	HP:0000932
27077	B9D1	Male pseudohermaphroditism	HP:0000037
27077	B9D1	Full cheeks	HP:0000293
27077	B9D1	Occipital encephalocele	HP:0002085
27077	B9D1	Foot polydactyly	HP:0001829
27077	B9D1	Postaxial foot polydactyly	HP:0001830
27077	B9D1	Cerebellar vermis hypoplasia	HP:0001320
27077	B9D1	Feeding difficulties in infancy	HP:0008872
27077	B9D1	Prominent nasal bridge	HP:0000426
27077	B9D1	Cleft palate	HP:0000175
27077	B9D1	Cystic liver disease	HP:0006706
27077	B9D1	Congenital hepatic fibrosis	HP:0002612
27077	B9D1	Aplasia/Hypoplasia of the tongue	HP:0010295
27077	B9D1	Microphthalmia	HP:0000568
27077	B9D1	Apnea	HP:0002104
27077	B9D1	Tremor	HP:0001337
27077	B9D1	Hypertelorism	HP:0000316
27077	B9D1	Episodic tachypnea	HP:0002876
27077	B9D1	Ambiguous genitalia	HP:0000062
27077	B9D1	Urethral atresia	HP:0000068
27077	B9D1	Biparietal narrowing	HP:0004422
27077	B9D1	Ureteral duplication	HP:0000073
27077	B9D1	Pancreatic cysts	HP:0001737
27077	B9D1	Depressed nasal ridge	HP:0000457
27077	B9D1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
27077	B9D1	Oral cleft	HP:0000202
27077	B9D1	Aganglionic megacolon	HP:0002251
27077	B9D1	Polymicrogyria	HP:0002126
27077	B9D1	Anteverted nares	HP:0000463
27077	B9D1	Asplenia	HP:0001746
27077	B9D1	Accessory spleen	HP:0001747
27077	B9D1	Sloping forehead	HP:0000340
27077	B9D1	Lobar holoprosencephaly	HP:0006870
27077	B9D1	Bowing of the long bones	HP:0006487
27077	B9D1	Scoliosis	HP:0002650
27077	B9D1	Micrognathia	HP:0000347
27077	B9D1	Talipes	HP:0001883
27077	B9D1	True hermaphroditism	HP:0010459
27077	B9D1	Furrowed tongue	HP:0000221
27077	B9D1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
27077	B9D1	Intellectual disability	HP:0001249
27077	B9D1	Microcornea	HP:0000482
27077	B9D1	Talipes equinovarus	HP:0001762
27077	B9D1	Limb undergrowth	HP:0009826
27077	B9D1	Seizures	HP:0001250
27077	B9D1	Ataxia	HP:0001251
27077	B9D1	Iris coloboma	HP:0000612
27077	B9D1	Muscular hypotonia	HP:0001252
27077	B9D1	Strabismus	HP:0000486
27077	B9D1	Hydrocephalus	HP:0000238
27077	B9D1	Global developmental delay	HP:0001263
27077	B9D1	Low-set, posteriorly rotated ears	HP:0000368
27077	B9D1	Abnormal form of the vertebral bodies	HP:0003312
27077	B9D1	Low-set ears	HP:0000369
27077	B9D1	Molar tooth sign on MRI	HP:0002419
27077	B9D1	Aplasia/Hypoplasia of the iris	HP:0008053
27077	B9D1	Highly arched eyebrow	HP:0002553
27077	B9D1	Microcephaly	HP:0000252
27077	B9D1	Ptosis	HP:0000508
27077	B9D1	Pancreatic fibrosis	HP:0100732
27077	B9D1	Nystagmus	HP:0000639
10695	CNPY3	Abnormality of skin morphology	HP:0011121
10695	CNPY3	Seizures	HP:0001250
10695	CNPY3	Epileptic encephalopathy	HP:0200134
10695	CNPY3	Infantile spasms	HP:0012469
10695	CNPY3	Developmental regression	HP:0002376
10695	CNPY3	Myoclonus	HP:0001336
10695	CNPY3	Hypsarrhythmia	HP:0002521
10695	CNPY3	Intellectual disability, profound	HP:0002187
10695	CNPY3	Spastic tetraplegia	HP:0002510
10699	CORIN	Autosomal dominant inheritance	HP:0000006
10699	CORIN	Eclampsia	HP:0100601
10699	CORIN	Preeclampsia	HP:0100602
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	Hypoglycemia	HP:0001943
51660	MPC1	Long philtrum	HP:0000343
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
27086	FOXP1	Delayed ability to walk	HP:0031936
27086	FOXP1	Macrocephaly	HP:0000256
27086	FOXP1	Pulmonary infiltrates	HP:0002113
27086	FOXP1	Open mouth	HP:0000194
27086	FOXP1	Autosomal dominant inheritance	HP:0000006
27086	FOXP1	Broad nasal tip	HP:0000455
27086	FOXP1	Apraxia	HP:0002186
27086	FOXP1	Generalized hypotonia	HP:0001290
27086	FOXP1	Aggressive behavior	HP:0000718
27086	FOXP1	Hyperhidrosis	HP:0000975
27086	FOXP1	Delayed gross motor development	HP:0002194
27086	FOXP1	Prominent forehead	HP:0011220
27086	FOXP1	Retrognathia	HP:0000278
27086	FOXP1	Fever	HP:0001945
27086	FOXP1	Fatigue	HP:0012378
27086	FOXP1	Posterior uveitis	HP:0012123
27086	FOXP1	Stereotypy	HP:0000733
27086	FOXP1	Recurrent respiratory infections	HP:0002205
27086	FOXP1	B-cell lymphoma	HP:0012191
27086	FOXP1	Delayed myelination	HP:0012448
27086	FOXP1	Weight loss	HP:0001824
27086	FOXP1	Intellectual disability	HP:0001249
27086	FOXP1	Nausea and vomiting	HP:0002017
27086	FOXP1	Constipation	HP:0002019
27086	FOXP1	Strabismus	HP:0000486
27086	FOXP1	Abnormal nasolacrimal system morphology	HP:0000614
27086	FOXP1	Obesity	HP:0001513
27086	FOXP1	Abdominal pain	HP:0002027
27086	FOXP1	Downslanted palpebral fissures	HP:0000494
27086	FOXP1	Delayed speech and language development	HP:0000750
27086	FOXP1	Anemia	HP:0001903
27086	FOXP1	Hyperactivity	HP:0000752
27086	FOXP1	Mediastinal lymphadenopathy	HP:0100721
27086	FOXP1	Abnormality of the thyroid gland	HP:0000820
27086	FOXP1	Visual impairment	HP:0000505
27086	FOXP1	Short nose	HP:0003196
27086	FOXP1	Hypertelorism	HP:0000316
27086	FOXP1	Nystagmus	HP:0000639
51663	ZFR	Spastic gait	HP:0002064
51663	ZFR	Hyperreflexia	HP:0001347
51663	ZFR	Peripheral neuropathy	HP:0009830
51663	ZFR	Intellectual disability, mild	HP:0001256
51663	ZFR	Hand tremor	HP:0002378
51663	ZFR	Progressive spastic paraplegia	HP:0007020
51663	ZFR	Abnormal myelination	HP:0012447
51663	ZFR	Babinski sign	HP:0003487
51663	ZFR	Hypoplasia of the corpus callosum	HP:0002079
51663	ZFR	Global developmental delay	HP:0001263
84433	CARD11	Immunodeficiency	HP:0002721
84433	CARD11	Decreased circulating total IgM	HP:0002850
84433	CARD11	Autosomal dominant inheritance	HP:0000006
84433	CARD11	Autosomal recessive inheritance	HP:0000007
84433	CARD11	Infantile onset	HP:0003593
84433	CARD11	Pneumonia	HP:0002090
84433	CARD11	Splenomegaly	HP:0001744
84433	CARD11	Asthma	HP:0002099
84433	CARD11	Atopic dermatitis	HP:0001047
84433	CARD11	Eosinophilia	HP:0001880
84433	CARD11	Decreased antibody level in blood	HP:0004313
84433	CARD11	Lymphocytosis	HP:0100827
84433	CARD11	Recurrent respiratory infections	HP:0002205
84433	CARD11	Recurrent infections	HP:0002719
2512	FTL	Blepharospasm	HP:0000643
2512	FTL	Neurodegeneration	HP:0002180
2512	FTL	Orofacial dyskinesia	HP:0002310
2512	FTL	Cataract	HP:0000518
2512	FTL	Autosomal dominant inheritance	HP:0000006
2512	FTL	Autosomal recessive inheritance	HP:0000007
2512	FTL	Gait disturbance	HP:0001288
2512	FTL	Optic atrophy	HP:0000648
2512	FTL	Arthralgia	HP:0002829
2512	FTL	Rigidity	HP:0002063
2512	FTL	Fragile nails	HP:0001808
2512	FTL	Laryngeal dystonia	HP:0012049
2512	FTL	Bradykinesia	HP:0002067
2512	FTL	Abnormality of metabolism/homeostasis	HP:0001939
2512	FTL	Parkinsonism	HP:0001300
2512	FTL	Chorea	HP:0002072
2512	FTL	Language impairment	HP:0002463
2512	FTL	Babinski sign	HP:0003487
2512	FTL	Retinal degeneration	HP:0000546
2512	FTL	Micrographia	HP:0031908
2512	FTL	Abnormal cerebellum morphology	HP:0001317
2512	FTL	Nuclear cataract	HP:0100018
2512	FTL	Dystonia	HP:0001332
2512	FTL	Writer's cramp	HP:0002356
2512	FTL	Dyskinesia	HP:0100660
2512	FTL	Hypotension	HP:0002615
2512	FTL	Decreased serum ferritin	HP:0012343
2512	FTL	Tremor	HP:0001337
2512	FTL	Hyperreflexia	HP:0001347
2512	FTL	Behavioral abnormality	HP:0000708
2512	FTL	Pulverulent cataract	HP:0010693
2512	FTL	Developmental regression	HP:0002376
2512	FTL	Emotional lability	HP:0000712
2512	FTL	Increased serum ferritin	HP:0003281
2512	FTL	Dysphonia	HP:0001618
2512	FTL	Hypomimic face	HP:0000338
2512	FTL	Subcortical dementia	HP:0007123
2512	FTL	Dementia	HP:0000726
2512	FTL	Fatigue	HP:0012378
2512	FTL	Progressive	HP:0003676
2512	FTL	Disinhibition	HP:0000734
2512	FTL	Dysphagia	HP:0002015
2512	FTL	Cavitation of the basal ganglia	HP:0007007
2512	FTL	Intellectual disability	HP:0001249
2512	FTL	Ataxia	HP:0001251
2512	FTL	Constipation	HP:0002019
2512	FTL	Spasticity	HP:0001257
2512	FTL	Dysarthria	HP:0001260
2512	FTL	Abnormality of eye movement	HP:0000496
2512	FTL	Spastic diplegia	HP:0001264
2512	FTL	Choreoathetosis	HP:0001266
2512	FTL	Anarthria	HP:0002425
2512	FTL	Mutism	HP:0002300
27089	UQCRQ	Intellectual disability, severe	HP:0010864
27089	UQCRQ	Absent speech	HP:0001344
27089	UQCRQ	Athetosis	HP:0002305
27089	UQCRQ	Hyperreflexia	HP:0001347
27089	UQCRQ	Ataxia	HP:0001251
27089	UQCRQ	Dystonia	HP:0001332
27089	UQCRQ	Autosomal recessive inheritance	HP:0000007
27089	UQCRQ	Abnormality of extrapyramidal motor function	HP:0002071
27089	UQCRQ	Increased serum lactate	HP:0002151
27089	UQCRQ	Generalized hypotonia	HP:0001290
27089	UQCRQ	Inability to walk	HP:0002540
27089	UQCRQ	Global developmental delay	HP:0001263
2516	NR5A1	Primary gonadal insufficiency	HP:0008193
2516	NR5A1	Abnormality of the uterus	HP:0000130
2516	NR5A1	Gynecomastia	HP:0000771
2516	NR5A1	Gonadal dysgenesis	HP:0000133
2516	NR5A1	Autosomal recessive inheritance	HP:0000007
2516	NR5A1	Testicular dysgenesis	HP:0008715
2516	NR5A1	Hypoplasia of the uterus	HP:0000013
2516	NR5A1	Arachnodactyly	HP:0001166
2516	NR5A1	Decreased fertility	HP:0000144
2516	NR5A1	Premature ovarian insufficiency	HP:0008209
2516	NR5A1	Primary amenorrhea	HP:0000786
2516	NR5A1	Polycystic ovaries	HP:0000147
2516	NR5A1	Abnormality of metabolism/homeostasis	HP:0001939
2516	NR5A1	Ovarian gonadoblastoma	HP:0000149
2516	NR5A1	Abnormality of male internal genitalia	HP:0000022
2516	NR5A1	Hypoplasia of the vagina	HP:0008726
2516	NR5A1	Decreased serum estradiol	HP:0008214
2516	NR5A1	Male hypogonadism	HP:0000026
2516	NR5A1	Female external genitalia in individual with 46,XY karyotype	HP:0008730
2516	NR5A1	Azoospermia	HP:0000027
2516	NR5A1	Cryptorchidism	HP:0000028
2516	NR5A1	Decreased testicular size	HP:0008734
2516	NR5A1	Testicular gonadoblastoma	HP:0000030
2516	NR5A1	Pulmonary fibrosis	HP:0002206
2516	NR5A1	Hypoplasia of penis	HP:0008736
2516	NR5A1	Male pseudohermaphroditism	HP:0000037
2516	NR5A1	Sparse axillary hair	HP:0002215
2516	NR5A1	Elevated circulating follicle stimulating hormone level	HP:0008232
2516	NR5A1	Penoscrotal hypospadias	HP:0000808
2516	NR5A1	Urogenital sinus anomaly	HP:0100779
2516	NR5A1	Osteopenia	HP:0000938
2516	NR5A1	Osteoporosis	HP:0000939
2516	NR5A1	Hypogonadotrophic hypogonadism	HP:0000044
2516	NR5A1	Abnormality of the scrotum	HP:0000045
2516	NR5A1	Scrotal hypoplasia	HP:0000046
2516	NR5A1	Hypospadias	HP:0000047
2516	NR5A1	Hypergonadotropic hypogonadism	HP:0000815
2516	NR5A1	Bifid scrotum	HP:0000048
2516	NR5A1	Sparse pubic hair	HP:0002225
2516	NR5A1	Male infertility	HP:0003251
2516	NR5A1	Micropenis	HP:0000054
2516	NR5A1	Delayed puberty	HP:0000823
2516	NR5A1	Abnormal scrotal rugation	HP:0012856
2516	NR5A1	Non-obstructive azoospermia	HP:0011961
2516	NR5A1	Abnormality of the labia	HP:0000058
2516	NR5A1	Obstructive azoospermia	HP:0011962
2516	NR5A1	Ambiguous genitalia	HP:0000062
2516	NR5A1	Sex-limited autosomal dominant	HP:0001470
2516	NR5A1	Delayed skeletal maturation	HP:0002750
2516	NR5A1	Elevated circulating luteinizing hormone level	HP:0011969
2516	NR5A1	Increased circulating gonadotropin level	HP:0000837
2516	NR5A1	Vanishing testis	HP:0012870
2516	NR5A1	Aplasia/Hypoplasia of the breasts	HP:0010311
2516	NR5A1	Adrenal insufficiency	HP:0000846
2516	NR5A1	Abnormal sex determination	HP:0012244
2516	NR5A1	Sex reversal	HP:0012245
2516	NR5A1	Abnormality of cardiovascular system morphology	HP:0030680
2516	NR5A1	Clitoral hypertrophy	HP:0008665
2516	NR5A1	True hermaphroditism	HP:0010459
2516	NR5A1	Streak ovary	HP:0010464
2516	NR5A1	Short stature	HP:0004322
2516	NR5A1	Ataxia	HP:0001251
2516	NR5A1	Streaky metaphyseal sclerosis	HP:0005092
2516	NR5A1	Decreased fertility in females	HP:0000868
2516	NR5A1	Nephrotic syndrome	HP:0000100
2516	NR5A1	Secondary amenorrhea	HP:0000869
2516	NR5A1	Nephroblastoma	HP:0002667
2516	NR5A1	Decreased serum testosterone level	HP:0040171
2516	NR5A1	Aplasia/hypoplasia of the uterus	HP:0008684
2516	NR5A1	Hearing impairment	HP:0000365
2516	NR5A1	Incomplete penetrance	HP:0003829
2516	NR5A1	Osteoporosis of vertebrae	HP:0005625
2516	NR5A1	Absence of secondary sex characteristics	HP:0008187
2516	NR5A1	Absent pubic hair	HP:0002555
2516	NR5A1	Microcephaly	HP:0000252
2516	NR5A1	Cryptozoospermia	HP:0030974
256471	MFSD8	Ataxia	HP:0001251
256471	MFSD8	Neurodegeneration	HP:0002180
256471	MFSD8	Pigmentary retinopathy	HP:0000580
256471	MFSD8	Juvenile onset	HP:0003621
256471	MFSD8	Autosomal recessive inheritance	HP:0000007
256471	MFSD8	Optic atrophy	HP:0000648
256471	MFSD8	Retinopathy	HP:0000488
256471	MFSD8	Blindness	HP:0000618
256471	MFSD8	Macular dystrophy	HP:0007754
256471	MFSD8	Cerebral atrophy	HP:0002059
256471	MFSD8	Generalized myoclonic seizures	HP:0002123
256471	MFSD8	Delayed speech and language development	HP:0000750
256471	MFSD8	Global developmental delay	HP:0001263
256471	MFSD8	Reduced visual acuity	HP:0007663
256471	MFSD8	Bull's eye maculopathy	HP:0011504
256471	MFSD8	EEG abnormality	HP:0002353
256471	MFSD8	Mental deterioration	HP:0001268
256471	MFSD8	Cerebellar atrophy	HP:0001272
256471	MFSD8	Sleep disturbance	HP:0002360
256471	MFSD8	Central scotoma	HP:0000603
256471	MFSD8	Visual loss	HP:0000572
256471	MFSD8	Rapidly progressive	HP:0003678
256471	MFSD8	Optic disc pallor	HP:0000543
2517	FUCA1	Vacuolated lymphocytes	HP:0001922
2517	FUCA1	Autosomal recessive inheritance	HP:0000007
2517	FUCA1	Cerebral atrophy	HP:0002059
2517	FUCA1	Vascular skin abnormality	HP:0011276
2517	FUCA1	Barrel-shaped chest	HP:0001552
2517	FUCA1	Abnormality of the gallbladder	HP:0005264
2517	FUCA1	Shield chest	HP:0000914
2517	FUCA1	Corneal opacity	HP:0007957
2517	FUCA1	Anterior beaking of thoracic vertebrae	HP:0004630
2517	FUCA1	Coarse facial features	HP:0000280
2517	FUCA1	Recurrent respiratory infections	HP:0002205
2517	FUCA1	Macroglossia	HP:0000158
2517	FUCA1	Abnormality of the dentition	HP:0000164
2517	FUCA1	Acrocyanosis	HP:0001063
2517	FUCA1	Dysostosis multiplex	HP:0000943
2517	FUCA1	Thick lower lip vermilion	HP:0000179
2517	FUCA1	Hypothyroidism	HP:0000821
2517	FUCA1	Hernia	HP:0100790
2517	FUCA1	Hypertelorism	HP:0000316
2517	FUCA1	Wide nose	HP:0000445
2517	FUCA1	Abnormality of the nail	HP:0001597
2517	FUCA1	Thick eyebrow	HP:0000574
2517	FUCA1	Dry skin	HP:0000958
2517	FUCA1	Hepatomegaly	HP:0002240
2517	FUCA1	Anhidrosis	HP:0000970
2517	FUCA1	Abnormality of the abdominal wall	HP:0004298
2517	FUCA1	Elevated sweat chloride	HP:0012236
2517	FUCA1	Absent/hypoplastic paranasal sinuses	HP:0005453
2517	FUCA1	Cervical platyspondyly	HP:0004558
2517	FUCA1	Spastic tetraplegia	HP:0002510
2517	FUCA1	Hyperhidrosis	HP:0000975
2517	FUCA1	Splenomegaly	HP:0001744
2517	FUCA1	Prominent forehead	HP:0011220
2517	FUCA1	Frontal bossing	HP:0002007
2517	FUCA1	Abnormal pyramidal sign	HP:0007256
2517	FUCA1	Scoliosis	HP:0002650
2517	FUCA1	Flexion contracture	HP:0001371
2517	FUCA1	Mucopolysacchariduria	HP:0008155
2517	FUCA1	Generalized hyperkeratosis	HP:0005595
2517	FUCA1	Intellectual disability	HP:0001249
2517	FUCA1	Short stature	HP:0004322
2517	FUCA1	Seizures	HP:0001250
2517	FUCA1	Lipoatrophy	HP:0100578
2517	FUCA1	Failure to thrive	HP:0001508
2517	FUCA1	Muscular hypotonia	HP:0001252
2517	FUCA1	Oligosacchariduria	HP:0010471
2517	FUCA1	Cardiomegaly	HP:0001640
2517	FUCA1	Hearing impairment	HP:0000365
2517	FUCA1	Anterior beaking of lumbar vertebrae	HP:0008430
2517	FUCA1	Global developmental delay	HP:0001263
2517	FUCA1	Intellectual disability, severe	HP:0010864
2517	FUCA1	Coxa valga	HP:0002673
2517	FUCA1	Absent/hypoplastic coccyx	HP:0008436
2517	FUCA1	Angiokeratoma	HP:0001014
2517	FUCA1	Tortuosity of conjunctival vessels	HP:0000503
2517	FUCA1	Polyneuropathy	HP:0001271
2517	FUCA1	Brachycephaly	HP:0000248
2517	FUCA1	Kyphosis	HP:0002808
2517	FUCA1	Lumbar hyperlordosis	HP:0002938
2517	FUCA1	Decreased muscle mass	HP:0003199
2521	FUS	EMG abnormality	HP:0003457
2521	FUS	Skeletal muscle atrophy	HP:0003202
2521	FUS	Abnormal mitochondrial morphology	HP:0008322
2521	FUS	Bulbar palsy	HP:0001283
2521	FUS	Neurodegeneration	HP:0002180
2521	FUS	Autosomal dominant inheritance	HP:0000006
2521	FUS	Gait disturbance	HP:0001288
2521	FUS	Apraxia	HP:0002186
2521	FUS	Dyscalculia	HP:0002442
2521	FUS	Degeneration of the lateral corticospinal tracts	HP:0002314
2521	FUS	Paralysis	HP:0003470
2521	FUS	Abnormality of the bladder	HP:0000014
2521	FUS	Perseveration	HP:0030223
2521	FUS	Pseudobulbar behavioral symptoms	HP:0002193
2521	FUS	Gastrointestinal dysmotility	HP:0002579
2521	FUS	Parkinsonism	HP:0001300
2521	FUS	Neuronal loss in the cerebral cortex	HP:0007190
2521	FUS	Progressive cerebellar ataxia	HP:0002073
2521	FUS	Distal muscle weakness	HP:0002460
2521	FUS	Babinski sign	HP:0003487
2521	FUS	Bilateral sensorineural hearing impairment	HP:0008619
2521	FUS	Dyspnea	HP:0002094
2521	FUS	Amyotrophic lateral sclerosis	HP:0007354
2521	FUS	Respiratory failure	HP:0002878
2521	FUS	Abnormal lower motor neuron morphology	HP:0002366
2521	FUS	Muscle spasm	HP:0003394
2521	FUS	Hyperreflexia	HP:0001347
2521	FUS	Emotional lability	HP:0000712
2521	FUS	Agitation	HP:0000713
2521	FUS	Subcutaneous nodule	HP:0001482
2521	FUS	Depressivity	HP:0000716
2521	FUS	Fasciculations	HP:0002380
2521	FUS	Abnormal upper motor neuron morphology	HP:0002127
2521	FUS	Laryngospasm	HP:0025425
2521	FUS	Paraparesis	HP:0002385
2521	FUS	Proximal amyotrophy	HP:0007126
2521	FUS	Abnormal pyramidal sign	HP:0007256
2521	FUS	Xerostomia	HP:0000217
2521	FUS	Fatigue	HP:0012378
2521	FUS	Supranuclear gaze palsy	HP:0000605
2521	FUS	Disinhibition	HP:0000734
2521	FUS	Dysphagia	HP:0002015
2521	FUS	Nausea and vomiting	HP:0002017
2521	FUS	Tetraparesis	HP:0002273
2521	FUS	Frontotemporal dementia	HP:0002145
2521	FUS	Neuronal loss in central nervous system	HP:0002529
2521	FUS	Hallucinations	HP:0000738
2521	FUS	Anxiety	HP:0000739
2521	FUS	Apathy	HP:0000741
2521	FUS	Spasticity	HP:0001257
2521	FUS	Abdominal pain	HP:0002027
2521	FUS	Global brain atrophy	HP:0002283
2521	FUS	Dysarthria	HP:0001260
2521	FUS	Hyporeflexia	HP:0001265
2521	FUS	Fatigable weakness of swallowing muscles	HP:0030195
2521	FUS	Pain	HP:0012531
2521	FUS	Fatigable weakness of respiratory muscles	HP:0030196
2521	FUS	Generalized amyotrophy	HP:0003700
2521	FUS	Proximal muscle weakness	HP:0003701
2521	FUS	Gliosis	HP:0002171
2521	FUS	Sensory neuropathy	HP:0000763
2521	FUS	Generalized muscle weakness	HP:0003324
2521	FUS	Mutism	HP:0002300
2521	FUS	Ptosis	HP:0000508
2521	FUS	Postural tremor	HP:0002174
2521	FUS	Decreased muscle mass	HP:0003199
10715	CERS1	Intellectual disability	HP:0001249
10715	CERS1	Generalized tonic-clonic seizures	HP:0002069
10715	CERS1	Dementia	HP:0000726
10715	CERS1	Autosomal recessive inheritance	HP:0000007
10715	CERS1	Myoclonus	HP:0001336
10715	CERS1	Progressive	HP:0003676
10716	TBR1	Short philtrum	HP:0000322
10716	TBR1	Long fingers	HP:0100807
10716	TBR1	Cataract	HP:0000518
10716	TBR1	Camptodactyly of finger	HP:0100490
10716	TBR1	Coloboma	HP:0000589
10716	TBR1	Abnormality iris morphology	HP:0000525
10716	TBR1	Severe global developmental delay	HP:0011344
10716	TBR1	Small face	HP:0000274
10716	TBR1	Short neck	HP:0000470
10716	TBR1	Autistic behavior	HP:0000729
10716	TBR1	Bullet-shaped distal phalanx of the hallux	HP:0010078
10716	TBR1	Intellectual disability	HP:0001249
10716	TBR1	Seizures	HP:0001250
10716	TBR1	Failure to thrive	HP:0001508
10716	TBR1	Hand clenching	HP:0001188
10716	TBR1	Growth delay	HP:0001510
10716	TBR1	Neonatal hypotonia	HP:0001319
10716	TBR1	Toe syndactyly	HP:0001770
10716	TBR1	Small for gestational age	HP:0001518
10716	TBR1	Downslanted palpebral fissures	HP:0000494
10716	TBR1	Cleft palate	HP:0000175
10716	TBR1	Low-set, posteriorly rotated ears	HP:0000368
10716	TBR1	Central apnea	HP:0002871
10716	TBR1	Microphthalmia	HP:0000568
10716	TBR1	Hypertelorism	HP:0000316
10716	TBR1	Abnormal oral frenulum morphology	HP:0000190
10717	AP4B1	Genu recurvatum	HP:0002816
10717	AP4B1	Short philtrum	HP:0000322
10717	AP4B1	Drooling	HP:0002307
10717	AP4B1	Hyperreflexia	HP:0001347
10717	AP4B1	Amblyopia	HP:0000646
10717	AP4B1	Autosomal recessive inheritance	HP:0000007
10717	AP4B1	Ventriculomegaly	HP:0002119
10717	AP4B1	Cerebral cortical atrophy	HP:0002120
10717	AP4B1	Generalized joint laxity	HP:0002761
10717	AP4B1	Waddling gait	HP:0002515
10717	AP4B1	Narrow forehead	HP:0000341
10717	AP4B1	Abnormality of the periventricular white matter	HP:0002518
10717	AP4B1	Coarse facial features	HP:0000280
10717	AP4B1	Wide mouth	HP:0000154
10717	AP4B1	High palate	HP:0000218
10717	AP4B1	Flexion contracture	HP:0001371
10717	AP4B1	Stereotypy	HP:0000733
10717	AP4B1	Slow progression	HP:0003677
10717	AP4B1	Bulbous nose	HP:0000414
10717	AP4B1	Overweight	HP:0025502
10717	AP4B1	Babinski sign	HP:0003487
10717	AP4B1	Hypoplasia of the corpus callosum	HP:0002079
10717	AP4B1	Spastic dysarthria	HP:0002464
10717	AP4B1	Poor speech	HP:0002465
10717	AP4B1	Short stature	HP:0004322
10717	AP4B1	Seizures	HP:0001250
10717	AP4B1	Talipes equinovarus	HP:0001762
10717	AP4B1	Pes planus	HP:0001763
10717	AP4B1	Shyness	HP:0100962
10717	AP4B1	Strabismus	HP:0000486
10717	AP4B1	Acetabular dysplasia	HP:0008807
10717	AP4B1	Neonatal hypotonia	HP:0001319
10717	AP4B1	Facial hypotonia	HP:0000297
10717	AP4B1	Spasticity	HP:0001257
10717	AP4B1	Spastic paraplegia	HP:0001258
10717	AP4B1	Progressive spastic paraplegia	HP:0007020
10717	AP4B1	Inability to walk	HP:0002540
10717	AP4B1	Dysarthria	HP:0001260
10717	AP4B1	Delayed speech and language development	HP:0000750
10717	AP4B1	Global developmental delay	HP:0001263
10717	AP4B1	Wide nasal bridge	HP:0000431
10717	AP4B1	Intellectual disability, severe	HP:0010864
10717	AP4B1	Difficulty walking	HP:0002355
10717	AP4B1	Everted upper lip vermilion	HP:0010803
10717	AP4B1	Dystonia	HP:0001332
10717	AP4B1	Cerebellar atrophy	HP:0001272
10717	AP4B1	Congenital onset	HP:0003577
10717	AP4B1	Microcephaly	HP:0000252
2530	FUT8	Intellectual disability	HP:0001249
2530	FUT8	Seizures	HP:0001250
2530	FUT8	Failure to thrive	HP:0001508
2530	FUT8	Intrauterine growth retardation	HP:0001511
2530	FUT8	Osteopenia	HP:0000938
2530	FUT8	Buphthalmos	HP:0000557
2530	FUT8	Global developmental delay	HP:0001263
2530	FUT8	Abnormal facial shape	HP:0001999
2530	FUT8	Wide nasal bridge	HP:0000431
2530	FUT8	Broad forehead	HP:0000337
2530	FUT8	Narrow forehead	HP:0000341
2530	FUT8	Retrognathia	HP:0000278
2530	FUT8	Congenital onset	HP:0003577
2530	FUT8	Flexion contracture	HP:0001371
2530	FUT8	Short nose	HP:0003196
2531	KDSR	Abnormal blistering of the skin	HP:0008066
2531	KDSR	Brachydactyly	HP:0001156
2531	KDSR	Epidermal acanthosis	HP:0025092
2531	KDSR	Neoplasm of the skin	HP:0008069
2531	KDSR	Cataract	HP:0000518
2531	KDSR	Autosomal recessive inheritance	HP:0000007
2531	KDSR	Hypermelanotic macule	HP:0001034
2531	KDSR	Palmoplantar hyperkeratosis	HP:0000972
2531	KDSR	Patchy palmoplantar keratoderma	HP:0005588
2531	KDSR	Corneal opacity	HP:0007957
2531	KDSR	Palmoplantar keratoderma	HP:0000982
2531	KDSR	Abnormality of cardiovascular system morphology	HP:0030680
2531	KDSR	Protruding ear	HP:0000411
2531	KDSR	Skin rash	HP:0000988
2531	KDSR	Tapered finger	HP:0001182
2531	KDSR	Erythema	HP:0010783
2531	KDSR	Weight loss	HP:0001824
2531	KDSR	Cutaneous photosensitivity	HP:0000992
2531	KDSR	Skin plaque	HP:0200035
2531	KDSR	Intellectual disability	HP:0001249
2531	KDSR	Short stature	HP:0004322
2531	KDSR	Abnormal testis morphology	HP:0000035
2531	KDSR	Hearing impairment	HP:0000365
2531	KDSR	Diabetes mellitus	HP:0000819
2531	KDSR	Glaucoma	HP:0000501
2531	KDSR	Generalized hirsutism	HP:0002230
2531	KDSR	Microcephaly	HP:0000252
2531	KDSR	Alopecia	HP:0001596
2531	KDSR	Abnormality of the nail	HP:0001597
2531	KDSR	Dry skin	HP:0000958
51684	SUFU	Macrocephaly	HP:0000256
51684	SUFU	Cardiac rhabdomyoma	HP:0009729
51684	SUFU	Hemangioma	HP:0001028
51684	SUFU	Wide anterior fontanel	HP:0000260
51684	SUFU	Short ribs	HP:0000773
51684	SUFU	Autosomal dominant inheritance	HP:0000006
51684	SUFU	Cataract	HP:0000518
51684	SUFU	Autosomal recessive inheritance	HP:0000007
51684	SUFU	Congenital diaphragmatic hernia	HP:0000776
51684	SUFU	Prominent occiput	HP:0000269
51684	SUFU	Inguinal hernia	HP:0000023
51684	SUFU	Coarse facial features	HP:0000280
51684	SUFU	Dandy-Walker malformation	HP:0001305
51684	SUFU	Broad face	HP:0000283
51684	SUFU	Cryptorchidism	HP:0000028
51684	SUFU	Epicanthus	HP:0000286
51684	SUFU	Milia	HP:0001056
51684	SUFU	Hypoplasia of penis	HP:0008736
51684	SUFU	Abnormal cerebellum morphology	HP:0001317
51684	SUFU	Hypogonadotrophic hypogonadism	HP:0000044
51684	SUFU	Mandibular prognathia	HP:0000303
51684	SUFU	Hypospadias	HP:0000047
51684	SUFU	Asthma	HP:0002099
51684	SUFU	Tented upper lip vermilion	HP:0010804
51684	SUFU	Hypothyroidism	HP:0000821
51684	SUFU	Microphthalmia	HP:0000568
51684	SUFU	Abnormality of the sense of smell	HP:0004408
51684	SUFU	Short 4th metacarpal	HP:0010044
51684	SUFU	Hypertelorism	HP:0000316
51684	SUFU	Ambiguous genitalia	HP:0000062
51684	SUFU	Short philtrum	HP:0000322
51684	SUFU	Medulloblastoma	HP:0002885
51684	SUFU	Maternal diabetes	HP:0009800
51684	SUFU	Bridged sella turcica	HP:0005449
51684	SUFU	Polymicrogyria	HP:0002126
51684	SUFU	Holoprosencephaly	HP:0001360
51684	SUFU	Sloping forehead	HP:0000340
51684	SUFU	Calcification of falx cerebri	HP:0005462
51684	SUFU	Down-sloping shoulders	HP:0200021
51684	SUFU	Premature birth	HP:0001622
51684	SUFU	Hypotelorism	HP:0000601
51684	SUFU	Scoliosis	HP:0002650
51684	SUFU	Tall stature	HP:0000098
51684	SUFU	Iris coloboma	HP:0000612
51684	SUFU	Tetralogy of Fallot	HP:0001636
51684	SUFU	Panhypopituitarism	HP:0000871
51684	SUFU	Renal agenesis	HP:0000104
51684	SUFU	Neoplasm	HP:0002664
51684	SUFU	Odontogenic keratocysts of the jaw	HP:0010603
51684	SUFU	Spina bifida	HP:0002414
51684	SUFU	Basal cell carcinoma	HP:0002671
51684	SUFU	Intellectual disability, severe	HP:0010864
51684	SUFU	Skin tags	HP:0010609
51684	SUFU	Palmar pits	HP:0010610
51684	SUFU	Molar tooth sign on MRI	HP:0002419
51684	SUFU	Plantar pits	HP:0010612
51684	SUFU	Orbital cyst	HP:0001144
51684	SUFU	Cardiac fibroma	HP:0010617
51684	SUFU	Hemivertebrae	HP:0002937
51684	SUFU	Abnormality of the clavicle	HP:0000889
51684	SUFU	Ovarian fibroma	HP:0010618
51684	SUFU	Bifid ribs	HP:0000892
51684	SUFU	Short nose	HP:0003196
51684	SUFU	Nystagmus	HP:0000639
51684	SUFU	EMG: myopathic abnormalities	HP:0003458
51684	SUFU	Vertebral fusion	HP:0002948
51684	SUFU	Brachydactyly	HP:0001156
51684	SUFU	Postaxial hand polydactyly	HP:0001162
51684	SUFU	Arachnodactyly	HP:0001166
51684	SUFU	Sprengel anomaly	HP:0000912
51684	SUFU	Heterogeneous	HP:0001425
51684	SUFU	Oculomotor apraxia	HP:0000657
51684	SUFU	Midnasal stenosis	HP:0010644
51684	SUFU	Sensorineural hearing impairment	HP:0000407
51684	SUFU	Carious teeth	HP:0000670
51684	SUFU	Single median maxillary incisor	HP:0006315
51684	SUFU	Cleft palate	HP:0000175
51684	SUFU	Wide nasal bridge	HP:0000431
51684	SUFU	Triphalangeal thumb	HP:0001199
51684	SUFU	Short distal phalanx of the thumb	HP:0009650
51684	SUFU	Supernumerary ribs	HP:0005815
51684	SUFU	Irregular ossification of hand bones	HP:0004280
51684	SUFU	Cyclopia	HP:0009914
51684	SUFU	Hamartomatous stomach polyps	HP:0004795
51684	SUFU	Narrow nasal bridge	HP:0000446
51684	SUFU	Kyphoscoliosis	HP:0002751
51684	SUFU	Aplasia/Hypoplasia of the cerebellum	HP:0007360
51684	SUFU	Choanal atresia	HP:0000453
51684	SUFU	Duodenal atresia	HP:0002247
51684	SUFU	Polydactyly	HP:0010442
51684	SUFU	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
51684	SUFU	Cleft upper lip	HP:0000204
51684	SUFU	Anteverted nares	HP:0000463
51684	SUFU	Abnormality of the neck	HP:0000464
51684	SUFU	Cerebral calcification	HP:0002514
51684	SUFU	Frontal bossing	HP:0002007
51684	SUFU	Intellectual disability	HP:0001249
51684	SUFU	Short stature	HP:0004322
51684	SUFU	Seizures	HP:0001250
51684	SUFU	Melanocytic nevus	HP:0000995
51684	SUFU	Ataxia	HP:0001251
51684	SUFU	Ovarian carcinoma	HP:0025318
51684	SUFU	Vertebral wedging	HP:0008422
51684	SUFU	Strabismus	HP:0000486
51684	SUFU	Intrauterine growth retardation	HP:0001511
51684	SUFU	Intellectual disability, mild	HP:0001256
51684	SUFU	Dysarthria	HP:0001260
51684	SUFU	Hydrocephalus	HP:0000238
51684	SUFU	Global developmental delay	HP:0001263
51684	SUFU	Parietal bossing	HP:0000242
51684	SUFU	Variable expressivity	HP:0003828
51684	SUFU	Incomplete penetrance	HP:0003829
51684	SUFU	Glaucoma	HP:0000501
51684	SUFU	Motor delay	HP:0001270
51684	SUFU	Brachycephaly	HP:0000248
51684	SUFU	Agenesis of corpus callosum	HP:0001274
51684	SUFU	Telecanthus	HP:0000506
51684	SUFU	Microcephaly	HP:0000252
51684	SUFU	Abnormality of the sternum	HP:0000766
2533	FYB1	Thrombocytopenia	HP:0001873
2533	FYB1	Decreased mean platelet volume	HP:0005537
2533	FYB1	Abnormal bleeding	HP:0001892
2533	FYB1	Epistaxis	HP:0000421
2533	FYB1	Autosomal recessive inheritance	HP:0000007
2533	FYB1	Abnormality of the skeletal system	HP:0000924
2535	FZD2	Pectus carinatum	HP:0000768
2535	FZD2	Macrocephaly	HP:0000256
2535	FZD2	Umbilical hernia	HP:0001537
2535	FZD2	Brachydactyly	HP:0001156
2535	FZD2	Autosomal dominant inheritance	HP:0000006
2535	FZD2	Proptosis	HP:0000520
2535	FZD2	Dislocated radial head	HP:0003083
2535	FZD2	Camptodactyly of finger	HP:0100490
2535	FZD2	Hip dislocation	HP:0002827
2535	FZD2	Long eyelashes	HP:0000527
2535	FZD2	Malar flattening	HP:0000272
2535	FZD2	High, narrow palate	HP:0002705
2535	FZD2	Retrognathia	HP:0000278
2535	FZD2	Inguinal hernia	HP:0000023
2535	FZD2	Midface retrusion	HP:0011800
2535	FZD2	Downturned corners of mouth	HP:0002714
2535	FZD2	Cryptorchidism	HP:0000028
2535	FZD2	Hypodontia	HP:0000668
2535	FZD2	Epicanthus	HP:0000286
2535	FZD2	Depressed nasal bridge	HP:0005280
2535	FZD2	Short humerus	HP:0005792
2535	FZD2	Hypoplasia of penis	HP:0008736
2535	FZD2	Hypoplastic distal humeri	HP:0005025
2535	FZD2	Anodontia	HP:0000674
2535	FZD2	Oligodontia	HP:0000677
2535	FZD2	Micromelia	HP:0002983
2535	FZD2	Epispadias	HP:0000039
2535	FZD2	Hypospadias	HP:0000047
2535	FZD2	Wide nasal bridge	HP:0000431
2535	FZD2	Specific learning disability	HP:0001328
2535	FZD2	Bifid scrotum	HP:0000048
2535	FZD2	Short 1st metacarpal	HP:0010034
2535	FZD2	Median cleft lip and palate	HP:0008501
2535	FZD2	Micropenis	HP:0000054
2535	FZD2	Severe short stature	HP:0003510
2535	FZD2	Open bite	HP:0010807
2535	FZD2	Short palm	HP:0004279
2535	FZD2	Patellar dislocation	HP:0002999
2535	FZD2	Bifid tongue	HP:0010297
2535	FZD2	Capillary hemangioma	HP:0005306
2535	FZD2	Hypoplastic labia majora	HP:0000059
2535	FZD2	Hypertelorism	HP:0000316
2535	FZD2	Femoral hernia	HP:0100541
2535	FZD2	Alopecia	HP:0001596
2535	FZD2	Clitoral hypoplasia	HP:0000060
2535	FZD2	Wide nose	HP:0000445
2535	FZD2	Increased number of teeth	HP:0011069
2535	FZD2	Ambiguous genitalia	HP:0000062
2535	FZD2	Fingernail dysplasia	HP:0100798
2535	FZD2	Sacral dimple	HP:0000960
2535	FZD2	Hypoplastic labia minora	HP:0000064
2535	FZD2	Short philtrum	HP:0000322
2535	FZD2	Limited elbow flexion/extension	HP:0005060
2535	FZD2	Upslanted palpebral fissure	HP:0000582
2535	FZD2	Bifid nasal tip	HP:0000456
2535	FZD2	Rhizomelia	HP:0008905
2535	FZD2	Anteverted nares	HP:0000463
2535	FZD2	Blue sclerae	HP:0000592
2535	FZD2	Ridged fingernail	HP:0008402
2535	FZD2	Gingival overgrowth	HP:0000212
2535	FZD2	Prominent forehead	HP:0011220
2535	FZD2	Finger syndactyly	HP:0006101
2535	FZD2	Short neck	HP:0000470
2535	FZD2	Frontal bossing	HP:0002007
2535	FZD2	Long philtrum	HP:0000343
2535	FZD2	Scoliosis	HP:0002650
2535	FZD2	Micrognathia	HP:0000347
2535	FZD2	Intellectual disability	HP:0001249
2535	FZD2	Elbow dislocation	HP:0003042
2535	FZD2	Onychogryposis of fingernail	HP:0040036
2535	FZD2	Strabismus	HP:0000486
2535	FZD2	Posteriorly rotated ears	HP:0000358
2535	FZD2	Euryblepharon	HP:0012905
2535	FZD2	Hip dysplasia	HP:0001385
2535	FZD2	Hearing impairment	HP:0000365
2535	FZD2	Naevus flammeus of the eyelid	HP:0010733
2535	FZD2	Downslanted palpebral fissures	HP:0000494
2535	FZD2	Avascular necrosis of the capital femoral epiphysis	HP:0005743
2535	FZD2	Global developmental delay	HP:0001263
2535	FZD2	Low-set ears	HP:0000369
2535	FZD2	Coxa valga	HP:0002673
2535	FZD2	Curly eyelashes	HP:0007665
2535	FZD2	Clinodactyly of the 5th finger	HP:0004209
2535	FZD2	Hemivertebrae	HP:0002937
2535	FZD2	Ptosis	HP:0000508
2535	FZD2	Coxa vara	HP:0002812
2535	FZD2	Short nose	HP:0003196
2535	FZD2	Long palpebral fissure	HP:0000637
2535	FZD2	Rhizomelic arm shortening	HP:0004991
2535	FZD2	Pectus excavatum	HP:0000767
166378	SPATA5	Absent speech	HP:0001344
166378	SPATA5	Feeding difficulties	HP:0011968
166378	SPATA5	Cerebral visual impairment	HP:0100704
166378	SPATA5	Immunodeficiency	HP:0002721
166378	SPATA5	Seizures	HP:0001250
166378	SPATA5	Failure to thrive	HP:0001508
166378	SPATA5	CNS hypomyelination	HP:0003429
166378	SPATA5	Strabismus	HP:0000486
166378	SPATA5	Autosomal recessive inheritance	HP:0000007
166378	SPATA5	Muscular hypotonia of the trunk	HP:0008936
166378	SPATA5	Spasticity	HP:0001257
166378	SPATA5	Limb hypertonia	HP:0002509
166378	SPATA5	Global developmental delay	HP:0001263
166378	SPATA5	Intellectual disability, severe	HP:0010864
166378	SPATA5	Thrombocytopenia	HP:0001873
166378	SPATA5	EEG abnormality	HP:0002353
166378	SPATA5	Sensorineural hearing impairment	HP:0000407
166378	SPATA5	Scoliosis	HP:0002650
166378	SPATA5	Microcephaly	HP:0000252
166378	SPATA5	Nystagmus	HP:0000639
166378	SPATA5	Hypoplasia of the corpus callosum	HP:0002079
166379	BBS12	Abnormal electroretinogram	HP:0000512
166379	BBS12	Skeletal muscle atrophy	HP:0003202
166379	BBS12	Multicystic kidney dysplasia	HP:0000003
166379	BBS12	Pigmentary retinopathy	HP:0000580
166379	BBS12	Autosomal recessive inheritance	HP:0000007
166379	BBS12	Hypogonadism	HP:0000135
166379	BBS12	Polydactyly	HP:0010442
166379	BBS12	Postaxial hand polydactyly	HP:0001162
166379	BBS12	Abnormality of the kidney	HP:0000077
166379	BBS12	Hypoplasia of the ovary	HP:0008724
166379	BBS12	Finger syndactyly	HP:0006101
166379	BBS12	Short neck	HP:0000470
166379	BBS12	Cryptorchidism	HP:0000028
166379	BBS12	Hypoplasia of penis	HP:0008736
166379	BBS12	Intellectual disability	HP:0001249
166379	BBS12	Short stature	HP:0004322
166379	BBS12	Nephrotic syndrome	HP:0000100
166379	BBS12	Obesity	HP:0001513
166379	BBS12	Prominent nasal bridge	HP:0000426
166379	BBS12	Hearing impairment	HP:0000365
166379	BBS12	Downslanted palpebral fissures	HP:0000494
166379	BBS12	Low-set, posteriorly rotated ears	HP:0000368
166379	BBS12	Hepatic fibrosis	HP:0001395
166379	BBS12	Hypertension	HP:0000822
166379	BBS12	Generalized hirsutism	HP:0002230
166379	BBS12	Neurological speech impairment	HP:0002167
166379	BBS12	Medial flaring of the eyebrow	HP:0010747
166379	BBS12	Rod-cone dystrophy	HP:0000510
166379	BBS12	Cognitive impairment	HP:0100543
166379	BBS12	Nystagmus	HP:0000639
2538	G6PC	Hepatomegaly	HP:0002240
2538	G6PC	Protuberant abdomen	HP:0001538
2538	G6PC	Hyperlipidemia	HP:0003077
2538	G6PC	Pancreatitis	HP:0001733
2538	G6PC	Autosomal recessive inheritance	HP:0000007
2538	G6PC	Gout	HP:0001997
2538	G6PC	Intermittent diarrhea	HP:0002254
2538	G6PC	Nephrolithiasis	HP:0000787
2538	G6PC	Lipemia retinalis	HP:0000660
2538	G6PC	Hypoglycemia	HP:0001943
2538	G6PC	Xanthelasma	HP:0001114
2538	G6PC	Proteinuria	HP:0000093
2538	G6PC	Elevated hepatic transaminase	HP:0002910
2538	G6PC	Xanthomatosis	HP:0000991
2538	G6PC	Focal segmental glomerulosclerosis	HP:0000097
2538	G6PC	Short stature	HP:0004322
2538	G6PC	Abnormal bleeding	HP:0001892
2538	G6PC	Hyperuricemia	HP:0002149
2538	G6PC	Doll-like facies	HP:0000295
2538	G6PC	Enlarged kidney	HP:0000105
2538	G6PC	Osteoporosis	HP:0000939
2538	G6PC	Decreased glomerular filtration rate	HP:0012213
2538	G6PC	Hypertension	HP:0000822
2538	G6PC	Delayed puberty	HP:0000823
2538	G6PC	Lactic acidosis	HP:0003128
2538	G6PC	Hepatocellular carcinoma	HP:0001402
2538	G6PC	Decreased muscle mass	HP:0003199
10730	YME1L1	Absent speech	HP:0001344
10730	YME1L1	Macrocephaly	HP:0000256
10730	YME1L1	Intellectual disability	HP:0001249
10730	YME1L1	Myopia	HP:0000545
10730	YME1L1	Short stature	HP:0004322
10730	YME1L1	Facial diplegia	HP:0001349
10730	YME1L1	Amblyopia	HP:0000646
10730	YME1L1	Strabismus	HP:0000486
10730	YME1L1	Autosomal recessive inheritance	HP:0000007
10730	YME1L1	Optic atrophy	HP:0000648
10730	YME1L1	Infantile onset	HP:0003593
10730	YME1L1	Cerebellar hypoplasia	HP:0001321
10730	YME1L1	Generalized hypotonia	HP:0001290
10730	YME1L1	Hearing impairment	HP:0000365
10730	YME1L1	Global developmental delay	HP:0001263
10730	YME1L1	Macrotia	HP:0000400
10730	YME1L1	Hyperactivity	HP:0000752
10730	YME1L1	Leukoencephalopathy	HP:0002352
10730	YME1L1	Hyperkinesis	HP:0002487
10730	YME1L1	Midface retrusion	HP:0011800
10730	YME1L1	Hypermetropia	HP:0000540
10730	YME1L1	Brain atrophy	HP:0012444
10730	YME1L1	Microcephaly	HP:0000252
10730	YME1L1	Dysmetria	HP:0001310
2539	G6PD	Prolonged neonatal jaundice	HP:0006579
2539	G6PD	Reticulocytosis	HP:0001923
2539	G6PD	Pallor	HP:0000980
2539	G6PD	Leukocytosis	HP:0001974
2539	G6PD	Hemoglobinuria	HP:0003641
2539	G6PD	Anisocytosis	HP:0011273
2539	G6PD	Unconjugated hyperbilirubinemia	HP:0008282
2539	G6PD	X-linked recessive inheritance	HP:0001419
2539	G6PD	Fava bean-induced hemolytic anemia	HP:0004814
2539	G6PD	Poikilocytosis	HP:0004447
10733	PLK4	Absent earlobe	HP:0000387
10733	PLK4	Cataract	HP:0000518
10733	PLK4	Autosomal recessive inheritance	HP:0000007
10733	PLK4	Proptosis	HP:0000520
10733	PLK4	Optic atrophy	HP:0000648
10733	PLK4	Cerebral atrophy	HP:0002059
10733	PLK4	Narrow face	HP:0000275
10733	PLK4	Simplified gyral pattern	HP:0009879
10733	PLK4	Abnormality of retinal pigmentation	HP:0007703
10733	PLK4	Protruding ear	HP:0000411
10733	PLK4	Optic disc pallor	HP:0000543
10733	PLK4	Sparse scalp hair	HP:0002209
10733	PLK4	Abnormality of dental enamel	HP:0000682
10733	PLK4	Wide nasal bridge	HP:0000431
10733	PLK4	Pointed chin	HP:0000307
10733	PLK4	Microphthalmia	HP:0000568
10733	PLK4	Convex nasal ridge	HP:0000444
10733	PLK4	Sandal gap	HP:0001852
10733	PLK4	Joint hyperflexibility	HP:0005692
10733	PLK4	Delayed skeletal maturation	HP:0002750
10733	PLK4	Cognitive impairment	HP:0100543
10733	PLK4	Prominent nose	HP:0000448
10733	PLK4	Aplasia/Hypoplasia of the cerebellum	HP:0007360
10733	PLK4	Biparietal narrowing	HP:0004422
10733	PLK4	Prematurely aged appearance	HP:0007495
10733	PLK4	Cerebral cortical atrophy	HP:0002120
10733	PLK4	Reduced number of teeth	HP:0009804
10733	PLK4	Mild global developmental delay	HP:0011342
10733	PLK4	Anteverted nares	HP:0000463
10733	PLK4	Craniosynostosis	HP:0001363
10733	PLK4	Cone-shaped epiphysis	HP:0010579
10733	PLK4	Sloping forehead	HP:0000340
10733	PLK4	Scoliosis	HP:0002650
10733	PLK4	Micrognathia	HP:0000347
10733	PLK4	Abnormality of neuronal migration	HP:0002269
10733	PLK4	Intellectual disability	HP:0001249
10733	PLK4	Short stature	HP:0004322
10733	PLK4	Seizures	HP:0001250
10733	PLK4	Microcornea	HP:0000482
10733	PLK4	Cachexia	HP:0004326
10733	PLK4	Strabismus	HP:0000486
10733	PLK4	Intrauterine growth retardation	HP:0001511
10733	PLK4	Retinopathy	HP:0000488
10733	PLK4	Hip dysplasia	HP:0001385
10733	PLK4	Macular atrophy	HP:0007401
10733	PLK4	Downslanted palpebral fissures	HP:0000494
10733	PLK4	Global developmental delay	HP:0001263
10733	PLK4	Clinodactyly of the 5th finger	HP:0004209
10733	PLK4	Abnormal eyelash morphology	HP:0000499
10733	PLK4	Glaucoma	HP:0000501
10733	PLK4	Cerebellar atrophy	HP:0001272
10733	PLK4	Congenital onset	HP:0003577
10733	PLK4	Visual impairment	HP:0000505
10733	PLK4	Microcephaly	HP:0000252
10733	PLK4	Hypertonia	HP:0001276
10733	PLK4	Nystagmus	HP:0000639
10734	STAG3	Premature ovarian insufficiency	HP:0008209
10734	STAG3	Primary amenorrhea	HP:0000786
10734	STAG3	Increased circulating gonadotropin level	HP:0000837
10734	STAG3	Ovarian neoplasm	HP:0100615
10734	STAG3	Autosomal recessive inheritance	HP:0000007
2542	SLC37A4	Hepatomegaly	HP:0002240
2542	SLC37A4	Protuberant abdomen	HP:0001538
2542	SLC37A4	Hepatoblastoma	HP:0002884
2542	SLC37A4	Hyperlipidemia	HP:0003077
2542	SLC37A4	Pancreatitis	HP:0001733
2542	SLC37A4	Autosomal recessive inheritance	HP:0000007
2542	SLC37A4	Chronic pancreatitis	HP:0006280
2542	SLC37A4	Gout	HP:0001997
2542	SLC37A4	Nephrolithiasis	HP:0000787
2542	SLC37A4	Neutropenia	HP:0001875
2542	SLC37A4	Renal insufficiency	HP:0000083
2542	SLC37A4	Lipemia retinalis	HP:0000660
2542	SLC37A4	Metabolic acidosis	HP:0001942
2542	SLC37A4	Hematuria	HP:0000790
2542	SLC37A4	Hypoglycemia	HP:0001943
2542	SLC37A4	Xanthelasma	HP:0001114
2542	SLC37A4	Oral ulcer	HP:0000155
2542	SLC37A4	Proteinuria	HP:0000093
2542	SLC37A4	Elevated hepatic transaminase	HP:0002910
2542	SLC37A4	Recurrent bacterial infections	HP:0002718
2542	SLC37A4	Xanthomatosis	HP:0000991
2542	SLC37A4	Focal segmental glomerulosclerosis	HP:0000097
2542	SLC37A4	Short stature	HP:0004322
2542	SLC37A4	Hyperuricemia	HP:0002149
2542	SLC37A4	Doll-like facies	HP:0000295
2542	SLC37A4	Enlarged kidney	HP:0000105
2542	SLC37A4	Spider hemangioma	HP:0012522
2542	SLC37A4	Osteoporosis	HP:0000939
2542	SLC37A4	Pulmonary arterial hypertension	HP:0002092
2542	SLC37A4	Decreased glomerular filtration rate	HP:0012213
2542	SLC37A4	Hypertension	HP:0000822
2542	SLC37A4	Delayed puberty	HP:0000823
2542	SLC37A4	Lactic acidosis	HP:0003128
2542	SLC37A4	Hyperketonemia	HP:0410175
2542	SLC37A4	Hepatocellular carcinoma	HP:0001402
10736	SIX2	Depressed nasal bridge	HP:0005280
10736	SIX2	Macrocephaly	HP:0000256
10736	SIX2	Metopic synostosis	HP:0011330
10736	SIX2	Short stature	HP:0004322
10736	SIX2	Wide anterior fontanel	HP:0000260
10736	SIX2	Abnormality of the skull base	HP:0002693
10736	SIX2	Posteriorly rotated ears	HP:0000358
10736	SIX2	Intrauterine growth retardation	HP:0001511
10736	SIX2	Broad nasal tip	HP:0000455
10736	SIX2	Absent/hypoplastic paranasal sinuses	HP:0005453
10736	SIX2	Small for gestational age	HP:0001518
10736	SIX2	Prominent palatine ridges	HP:0010291
10736	SIX2	Premature posterior fontanelle closure	HP:0005494
10736	SIX2	Frontal bossing	HP:0002007
10736	SIX2	Epicanthus inversus	HP:0000537
10736	SIX2	High forehead	HP:0000348
10736	SIX2	Hypertelorism	HP:0000316
10736	SIX2	Ptosis	HP:0000508
10736	SIX2	Aplasia/Hypoplasia of the frontal sinuses	HP:0009119
84464	SLX4	Umbilical hernia	HP:0001537
84464	SLX4	Duodenal stenosis	HP:0100867
84464	SLX4	Cataract	HP:0000518
84464	SLX4	Abnormality of femur morphology	HP:0002823
84464	SLX4	Autosomal recessive inheritance	HP:0000007
84464	SLX4	Proptosis	HP:0000520
84464	SLX4	Decreased fertility in males	HP:0012041
84464	SLX4	Recurrent urinary tract infections	HP:0000010
84464	SLX4	Hip dislocation	HP:0002827
84464	SLX4	Dolichocephaly	HP:0000268
84464	SLX4	Tracheoesophageal fistula	HP:0002575
84464	SLX4	Vitiligo	HP:0001045
84464	SLX4	Oligohydramnios	HP:0001562
84464	SLX4	Azoospermia	HP:0000027
84464	SLX4	Cryptorchidism	HP:0000028
84464	SLX4	Hypopigmented skin patches	HP:0001053
84464	SLX4	Epicanthus	HP:0000286
84464	SLX4	Weight loss	HP:0001824
84464	SLX4	Squamous cell carcinoma	HP:0002860
84464	SLX4	Bicornuate uterus	HP:0000813
84464	SLX4	Myelodysplasia	HP:0002863
84464	SLX4	Hypospadias	HP:0000047
84464	SLX4	Absent thumb	HP:0009777
84464	SLX4	Short thumb	HP:0009778
84464	SLX4	Aplasia/Hypoplasia of the uvula	HP:0010293
84464	SLX4	Microphthalmia	HP:0000568
84464	SLX4	Hypertelorism	HP:0000316
84464	SLX4	Hyperreflexia	HP:0001347
84464	SLX4	Facial asymmetry	HP:0000324
84464	SLX4	Blepharophimosis	HP:0000581
84464	SLX4	Upslanted palpebral fissure	HP:0000582
84464	SLX4	Ventriculomegaly	HP:0002119
84464	SLX4	Hydroureter	HP:0000072
84464	SLX4	Thrombocytopenia	HP:0001873
84464	SLX4	Renal insufficiency	HP:0000083
84464	SLX4	Sloping forehead	HP:0000340
84464	SLX4	Pancytopenia	HP:0001876
84464	SLX4	Horseshoe kidney	HP:0000085
84464	SLX4	Scoliosis	HP:0002650
84464	SLX4	Leukopenia	HP:0001882
84464	SLX4	Micrognathia	HP:0000347
84464	SLX4	Atrial septal defect	HP:0001631
84464	SLX4	Abnormality of the hypothalamus-pituitary axis	HP:0000864
84464	SLX4	Tetralogy of Fallot	HP:0001636
84464	SLX4	Aplasia/Hypoplasia of the radius	HP:0006501
84464	SLX4	Hypertrophic cardiomyopathy	HP:0001639
84464	SLX4	Patent ductus arteriosus	HP:0001643
84464	SLX4	Hearing impairment	HP:0000365
84464	SLX4	Abnormal aortic valve morphology	HP:0001646
84464	SLX4	Spina bifida	HP:0002414
84464	SLX4	Anemia	HP:0001903
84464	SLX4	Abnormality of the liver	HP:0001392
84464	SLX4	Clinodactyly of the 5th finger	HP:0004209
84464	SLX4	Aplasia/Hypoplasia of the iris	HP:0008053
84464	SLX4	Aplasia/Hypoplasia of fingers	HP:0006265
84464	SLX4	External ear malformation	HP:0008572
84464	SLX4	Pelvic kidney	HP:0000125
84464	SLX4	Nystagmus	HP:0000639
84464	SLX4	Hypogonadism	HP:0000135
84464	SLX4	Multiple cafe-au-lait spots	HP:0007565
84464	SLX4	Abnormal aortic morphology	HP:0001679
84464	SLX4	Pyridoxine-responsive sideroblastic anemia	HP:0005522
84464	SLX4	Abnormality of chromosome stability	HP:0003220
84464	SLX4	Clubbing of toes	HP:0100760
84464	SLX4	Bulbous nose	HP:0000414
84464	SLX4	Cranial nerve paralysis	HP:0006824
84464	SLX4	Hypoplasia of the radius	HP:0002984
84464	SLX4	Cleft palate	HP:0000175
84464	SLX4	Triphalangeal thumb	HP:0001199
84464	SLX4	Arteriovenous malformation	HP:0100026
84464	SLX4	Cafe-au-lait spot	HP:0000957
84464	SLX4	Abnormal localization of kidney	HP:0100542
84464	SLX4	Almond-shaped palpebral fissure	HP:0007874
84464	SLX4	Meckel diverticulum	HP:0002245
84464	SLX4	Choanal atresia	HP:0000453
84464	SLX4	Short palpebral fissure	HP:0012745
84464	SLX4	Aganglionic megacolon	HP:0002251
84464	SLX4	Hypoplasia of the ulna	HP:0003022
84464	SLX4	Finger syndactyly	HP:0006101
84464	SLX4	Frontal bossing	HP:0002007
84464	SLX4	High palate	HP:0000218
84464	SLX4	Abnormal carotid artery morphology	HP:0005344
84464	SLX4	Intellectual disability	HP:0001249
84464	SLX4	Short stature	HP:0004322
84464	SLX4	Pes planus	HP:0001763
84464	SLX4	Astigmatism	HP:0000483
84464	SLX4	Absent testis	HP:0010469
84464	SLX4	Renal hypoplasia/aplasia	HP:0008678
84464	SLX4	Strabismus	HP:0000486
84464	SLX4	Anal atresia	HP:0002023
84464	SLX4	Intrauterine growth retardation	HP:0001511
84464	SLX4	Irregular hyperpigmentation	HP:0007400
84464	SLX4	Toe syndactyly	HP:0001770
84464	SLX4	Abnormality of the preputium	HP:0100587
84464	SLX4	Hydrocephalus	HP:0000238
84464	SLX4	Global developmental delay	HP:0001263
84464	SLX4	Variable expressivity	HP:0003828
84464	SLX4	Visual impairment	HP:0000505
84464	SLX4	Microcephaly	HP:0000252
84464	SLX4	Ptosis	HP:0000508
84464	SLX4	Reduced bone mineral density	HP:0004349
84466	MEGF10	Areflexia	HP:0001284
84466	MEGF10	Facial palsy	HP:0010628
84466	MEGF10	Diaphragmatic paralysis	HP:0006597
84466	MEGF10	Autosomal recessive inheritance	HP:0000007
84466	MEGF10	Nasal speech	HP:0001611
84466	MEGF10	Camptodactyly of finger	HP:0100490
84466	MEGF10	Decreased fetal movement	HP:0001558
84466	MEGF10	Difficulty running	HP:0009046
84466	MEGF10	Scoliosis	HP:0002650
84466	MEGF10	High palate	HP:0000218
84466	MEGF10	Dysphagia	HP:0002015
84466	MEGF10	Seizures	HP:0001250
84466	MEGF10	Talipes equinovarus	HP:0001762
84466	MEGF10	Failure to thrive	HP:0001508
84466	MEGF10	Neonatal hypotonia	HP:0001319
84466	MEGF10	Restrictive ventilatory defect	HP:0002091
84466	MEGF10	Cleft palate	HP:0000175
84466	MEGF10	Hyporeflexia	HP:0001265
84466	MEGF10	Respiratory distress	HP:0002098
84466	MEGF10	Variable expressivity	HP:0003828
84466	MEGF10	Poor head control	HP:0002421
84466	MEGF10	Motor delay	HP:0001270
84466	MEGF10	Congenital onset	HP:0003577
84466	MEGF10	Respiratory failure	HP:0002878
84466	MEGF10	Pectus excavatum	HP:0000767
2548	GAA	Hepatomegaly	HP:0002240
2548	GAA	Elevated serum creatine kinase	HP:0003236
2548	GAA	Areflexia	HP:0001284
2548	GAA	Muscular hypotonia	HP:0001252
2548	GAA	Diaphragmatic paralysis	HP:0006597
2548	GAA	Autosomal recessive inheritance	HP:0000007
2548	GAA	Cardiomegaly	HP:0001640
2548	GAA	Abnormal CNS myelination	HP:0011400
2548	GAA	Generalized hypotonia	HP:0001290
2548	GAA	Firm muscles	HP:0003725
2548	GAA	Respiratory insufficiency	HP:0002093
2548	GAA	Shortened PR interval	HP:0005165
2548	GAA	Hearing impairment	HP:0000365
2548	GAA	Dyspnea	HP:0002094
2548	GAA	Dilatation of the cerebral artery	HP:0004944
2548	GAA	Splenomegaly	HP:0001744
2548	GAA	Wolff-Parkinson-White syndrome	HP:0001716
2548	GAA	Proximal muscle weakness	HP:0003701
2548	GAA	Fever	HP:0001945
2548	GAA	Respiratory insufficiency due to muscle weakness	HP:0002747
2548	GAA	Recurrent respiratory infections	HP:0002205
2548	GAA	Macroglossia	HP:0000158
2549	GAB1	Sensorineural hearing impairment	HP:0000407
2549	GAB1	Autosomal recessive inheritance	HP:0000007
27125	AFF4	Chronic lung disease	HP:0006528
27125	AFF4	Laryngomalacia	HP:0001601
27125	AFF4	Brachydactyly	HP:0001156
27125	AFF4	Cataract	HP:0000518
27125	AFF4	Autosomal dominant inheritance	HP:0000006
27125	AFF4	Abnormal cardiac septum morphology	HP:0001671
27125	AFF4	Optic atrophy	HP:0000648
27125	AFF4	Proptosis	HP:0000520
27125	AFF4	Thick hair	HP:0100874
27125	AFF4	Vesicoureteral reflux	HP:0000076
27125	AFF4	Long eyelashes	HP:0000527
27125	AFF4	Horseshoe kidney	HP:0000085
27125	AFF4	Coarse facial features	HP:0000280
27125	AFF4	Tracheal stenosis	HP:0002777
27125	AFF4	Downturned corners of mouth	HP:0002714
27125	AFF4	Cryptorchidism	HP:0000028
27125	AFF4	Intellectual disability	HP:0001249
27125	AFF4	Short stature	HP:0004322
27125	AFF4	Gastroesophageal reflux	HP:0002020
27125	AFF4	Obesity	HP:0001513
27125	AFF4	Patent ductus arteriosus	HP:0001643
27125	AFF4	Hearing impairment	HP:0000365
27125	AFF4	Aspiration pneumonia	HP:0011951
27125	AFF4	Global developmental delay	HP:0001263
27125	AFF4	Round face	HP:0000311
27125	AFF4	Congenital onset	HP:0003577
27125	AFF4	Short nose	HP:0003196
27125	AFF4	Hypertelorism	HP:0000316
27125	AFF4	Thick eyebrow	HP:0000574
51702	PADI3	Woolly hair	HP:0002224
51702	PADI3	Coarse hair	HP:0002208
51702	PADI3	White hair	HP:0011364
51702	PADI3	Alopecia areata	HP:0002229
51702	PADI3	Autosomal dominant inheritance	HP:0000006
51702	PADI3	Autosomal recessive inheritance	HP:0000007
51702	PADI3	Trichodysplasia	HP:0002552
51702	PADI3	Uncombable hair	HP:0030056
51702	PADI3	Pili canaliculi	HP:0002235
51702	PADI3	Dry hair	HP:0011359
10743	RAI1	Areflexia	HP:0001284
10743	RAI1	Autosomal dominant inheritance	HP:0000006
10743	RAI1	Gait disturbance	HP:0001288
10743	RAI1	Generalized hypotonia	HP:0001290
10743	RAI1	Malar flattening	HP:0000272
10743	RAI1	Decreased fetal movement	HP:0001558
10743	RAI1	Midface retrusion	HP:0011800
10743	RAI1	Broad face	HP:0000283
10743	RAI1	Hyperacusis	HP:0010780
10743	RAI1	Retinal detachment	HP:0000541
10743	RAI1	Hypoplasia of the corpus callosum	HP:0002079
10743	RAI1	Echolalia	HP:0010529
10743	RAI1	Myopia	HP:0000545
10743	RAI1	Sleep apnea	HP:0010535
10743	RAI1	Mandibular prognathia	HP:0000303
10743	RAI1	EEG abnormality	HP:0002353
10743	RAI1	High hypermetropia	HP:0008499
10743	RAI1	Everted upper lip vermilion	HP:0010803
10743	RAI1	Hypercholesterolemia	HP:0003124
10743	RAI1	Tented upper lip vermilion	HP:0010804
10743	RAI1	Abnormality of the thyroid gland	HP:0000820
10743	RAI1	Dysphasia	HP:0002357
10743	RAI1	Hypothyroidism	HP:0000821
10743	RAI1	Open bite	HP:0010807
10743	RAI1	Delayed puberty	HP:0000823
10743	RAI1	Sleep disturbance	HP:0002360
10743	RAI1	Precocious puberty	HP:0000826
10743	RAI1	Hypertelorism	HP:0000316
10743	RAI1	Abnormality of the larynx	HP:0001600
10743	RAI1	Short philtrum	HP:0000322
10743	RAI1	Triangular face	HP:0000325
10743	RAI1	Abnormality of the ureter	HP:0000069
10743	RAI1	Upslanted palpebral fissure	HP:0000582
10743	RAI1	Ventriculomegaly	HP:0002119
10743	RAI1	Hoarse voice	HP:0001609
10743	RAI1	Abnormality of the urinary system	HP:0000079
10743	RAI1	Broad forehead	HP:0000337
10743	RAI1	Abnormality of dental morphology	HP:0006482
10743	RAI1	Scoliosis	HP:0002650
10743	RAI1	Speech apraxia	HP:0011098
10743	RAI1	Micrognathia	HP:0000347
10743	RAI1	Abnormal heart morphology	HP:0001627
10743	RAI1	Poor fine motor coordination	HP:0007010
10743	RAI1	Abnormality of chromosome segregation	HP:0002916
10743	RAI1	Abnormality of the outer ear	HP:0000356
10743	RAI1	Corticospinal tract hypoplasia	HP:0007016
10743	RAI1	Sleep-wake inversion	HP:0031849
10743	RAI1	Attention deficit hyperactivity disorder	HP:0007018
10743	RAI1	Joint stiffness	HP:0001387
10743	RAI1	Hypertriglyceridemia	HP:0002155
10743	RAI1	Hearing impairment	HP:0000365
10743	RAI1	Self-injurious behavior	HP:0100716
10743	RAI1	Low-set, posteriorly rotated ears	HP:0000368
10743	RAI1	Clinodactyly of the 5th finger	HP:0004209
10743	RAI1	Neurological speech impairment	HP:0002167
10743	RAI1	Large face	HP:0100729
10743	RAI1	Short nose	HP:0003196
10743	RAI1	Brachydactyly	HP:0001156
10743	RAI1	Chronic otitis media	HP:0000389
10743	RAI1	Head-banging	HP:0012168
10743	RAI1	Hand polydactyly	HP:0001161
10743	RAI1	Broad palm	HP:0001169
10743	RAI1	Conductive hearing impairment	HP:0000405
10743	RAI1	Synophrys	HP:0000664
10743	RAI1	Wide mouth	HP:0000154
10743	RAI1	Abnormality of the immune system	HP:0002715
10743	RAI1	Abnormality of the forearm	HP:0002973
10743	RAI1	Impaired pain sensation	HP:0007328
10743	RAI1	Depressed nasal bridge	HP:0005280
10743	RAI1	Morphological abnormality of the middle ear	HP:0008609
10743	RAI1	Sporadic	HP:0003745
10743	RAI1	Abnormality of the dentition	HP:0000164
10743	RAI1	Taurodontia	HP:0000679
10743	RAI1	Feeding difficulties in infancy	HP:0008872
10743	RAI1	Delayed eruption of primary teeth	HP:0000680
10743	RAI1	Expressive language delay	HP:0002474
10743	RAI1	Cleft palate	HP:0000175
10743	RAI1	Wide nasal bridge	HP:0000431
10743	RAI1	Abnormal renal morphology	HP:0012210
10743	RAI1	Short palm	HP:0004279
10743	RAI1	Abnormal localization of kidney	HP:0100542
10743	RAI1	Open mouth	HP:0000194
10743	RAI1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
10743	RAI1	Oral cleft	HP:0000202
10743	RAI1	Oral-pharyngeal dysphagia	HP:0200136
10743	RAI1	Cleft upper lip	HP:0000204
10743	RAI1	Autism	HP:0000717
10743	RAI1	Anteverted nares	HP:0000463
10743	RAI1	Frontal bossing	HP:0002007
10743	RAI1	Abnormality of cardiovascular system morphology	HP:0030680
10743	RAI1	Velopharyngeal insufficiency	HP:0000220
10743	RAI1	Stereotypy	HP:0000733
10743	RAI1	Intellectual disability	HP:0001249
10743	RAI1	Short stature	HP:0004322
10743	RAI1	Seizures	HP:0001250
10743	RAI1	Microcornea	HP:0000482
10743	RAI1	Anxiety	HP:0000739
10743	RAI1	Constipation	HP:0002019
10743	RAI1	Pes planus	HP:0001763
10743	RAI1	Failure to thrive	HP:0001508
10743	RAI1	Gastroesophageal reflux	HP:0002020
10743	RAI1	Muscular hypotonia	HP:0001252
10743	RAI1	Strabismus	HP:0000486
10743	RAI1	Renal hypoplasia/aplasia	HP:0008678
10743	RAI1	Self-mutilation	HP:0000742
10743	RAI1	Abnormal tracheobronchial morphology	HP:0005607
10743	RAI1	Intellectual disability, mild	HP:0001256
10743	RAI1	Obesity	HP:0001513
10743	RAI1	Toe syndactyly	HP:0001770
10743	RAI1	Deeply set eye	HP:0000490
10743	RAI1	Dysarthria	HP:0001260
10743	RAI1	Downslanted palpebral fissures	HP:0000494
10743	RAI1	Delayed speech and language development	HP:0000750
10743	RAI1	Global developmental delay	HP:0001263
10743	RAI1	Abnormal form of the vertebral bodies	HP:0003312
10743	RAI1	Hyperactivity	HP:0000752
10743	RAI1	Hyporeflexia	HP:0001265
10743	RAI1	Brachycephaly	HP:0000248
10743	RAI1	Failure to thrive in infancy	HP:0001531
10743	RAI1	Microcephaly	HP:0000252
92667	MGME1	Ragged-red muscle fibers	HP:0003200
92667	MGME1	Facial palsy	HP:0010628
92667	MGME1	Autosomal recessive inheritance	HP:0000007
92667	MGME1	Nasal speech	HP:0001611
92667	MGME1	Decreased mitochondrial number	HP:0040013
92667	MGME1	Progressive external ophthalmoplegia	HP:0000590
92667	MGME1	Dysphonia	HP:0001618
92667	MGME1	Nephrolithiasis	HP:0000787
92667	MGME1	Proximal amyotrophy	HP:0007126
92667	MGME1	Exercise intolerance	HP:0003546
92667	MGME1	Arrhythmia	HP:0011675
92667	MGME1	Progressive	HP:0003676
92667	MGME1	Diarrhea	HP:0002014
92667	MGME1	Recurrent infections	HP:0002719
92667	MGME1	Dysphagia	HP:0002015
92667	MGME1	Intellectual disability	HP:0001249
92667	MGME1	Nausea	HP:0002018
92667	MGME1	Elevated serum creatine kinase	HP:0003236
92667	MGME1	Cerebellar hypoplasia	HP:0001321
92667	MGME1	Spinal rigidity	HP:0003306
92667	MGME1	Dilated cardiomyopathy	HP:0001644
92667	MGME1	Poor appetite	HP:0004396
92667	MGME1	Respiratory insufficiency	HP:0002093
92667	MGME1	Dyspnea	HP:0002094
92667	MGME1	Hypergonadotropic hypogonadism	HP:0000815
92667	MGME1	Weakness of facial musculature	HP:0030319
92667	MGME1	Hyporeflexia	HP:0001265
92667	MGME1	Generalized amyotrophy	HP:0003700
92667	MGME1	Kyphosis	HP:0002808
92667	MGME1	Cerebellar atrophy	HP:0001272
92667	MGME1	Spinal deformities	HP:0008443
92667	MGME1	Respiratory insufficiency due to muscle weakness	HP:0002747
92667	MGME1	Ptosis	HP:0000508
92667	MGME1	Microcephaly	HP:0000252
92667	MGME1	Easy fatigability	HP:0003388
92667	MGME1	Myopathy	HP:0003198
92667	MGME1	Respiratory failure	HP:0002878
27130	INVS	Cataract	HP:0000518
27130	INVS	Autosomal recessive inheritance	HP:0000007
27130	INVS	Chronic tubulointerstitial nephritis	HP:0004743
27130	INVS	Pulmonary insufficiency	HP:0010444
27130	INVS	Premature ovarian insufficiency	HP:0008209
27130	INVS	Progressive visual loss	HP:0000529
27130	INVS	Cone-shaped epiphysis	HP:0010579
27130	INVS	Abnormality of retinal pigmentation	HP:0007703
27130	INVS	Hyperkalemic metabolic acidosis	HP:0005976
27130	INVS	Oligohydramnios	HP:0001562
27130	INVS	Nephronophthisis	HP:0000090
27130	INVS	Situs inversus totalis	HP:0001696
27130	INVS	Short stature	HP:0004322
27130	INVS	Ataxia	HP:0001251
27130	INVS	Enlarged kidney	HP:0000105
27130	INVS	Pulmonary hypoplasia	HP:0002089
27130	INVS	Hyperkalemia	HP:0002153
27130	INVS	Retinal dystrophy	HP:0000556
27130	INVS	Respiratory insufficiency	HP:0002093
27130	INVS	Hyperechogenic kidneys	HP:0004719
27130	INVS	Global developmental delay	HP:0001263
27130	INVS	Congenital hepatic fibrosis	HP:0002612
27130	INVS	Hypertension	HP:0000822
27130	INVS	Elevated serum creatinine	HP:0003259
27130	INVS	Absence of renal corticomedullary differentiation	HP:0005564
27130	INVS	Abnormality of bone mineral density	HP:0004348
27130	INVS	Stage 5 chronic kidney disease	HP:0003774
27130	INVS	Respiratory failure	HP:0002878
27130	INVS	Renal cortical microcysts	HP:0004734
2554	GABRA1	Atonic seizures	HP:0010819
2554	GABRA1	Febrile seizures	HP:0002373
2554	GABRA1	Epileptic encephalopathy	HP:0200134
2554	GABRA1	Autosomal dominant inheritance	HP:0000006
2554	GABRA1	Absence seizure	HP:0002121
2554	GABRA1	Generalized myoclonic seizures	HP:0002123
2554	GABRA1	Psychomotor retardation	HP:0025356
2554	GABRA1	Aggressive behavior	HP:0000718
2554	GABRA1	Obtundation status	HP:0011151
2554	GABRA1	Focal impaired awareness seizure	HP:0002384
2554	GABRA1	Status epilepticus	HP:0002133
2554	GABRA1	Neurodevelopmental delay	HP:0012758
2554	GABRA1	Morning myoclonic jerks	HP:0007000
2554	GABRA1	EEG with polyspike wave complexes	HP:0002392
2554	GABRA1	Abnormality of the mouth	HP:0000153
2554	GABRA1	Focal clonic seizures	HP:0002266
2554	GABRA1	Hemiclonic seizures	HP:0006813
2554	GABRA1	Cutaneous photosensitivity	HP:0000992
2554	GABRA1	Intellectual disability	HP:0001249
2554	GABRA1	Ataxia	HP:0001251
2554	GABRA1	Muscular hypotonia	HP:0001252
2554	GABRA1	Generalized tonic-clonic seizures with focal onset	HP:0007334
2554	GABRA1	Photosensitive tonic-clonic seizures	HP:0007207
2554	GABRA1	Global developmental delay	HP:0001263
2554	GABRA1	Abnormality of eye movement	HP:0000496
2554	GABRA1	EEG abnormality	HP:0002353
2554	GABRA1	Tremor	HP:0001337
10747	MASP2	Recurrent pneumonia	HP:0006532
10747	MASP2	Systemic lupus erythematosus	HP:0002725
10747	MASP2	Ulcerative colitis	HP:0100279
10747	MASP2	Autosomal dominant inheritance	HP:0000006
10747	MASP2	Autosomal recessive inheritance	HP:0000007
10747	MASP2	Complement deficiency	HP:0004431
2556	GABRA3	EMG abnormality	HP:0003457
2556	GABRA3	Rhabdomyolysis	HP:0003201
2556	GABRA3	Muscle spasm	HP:0003394
2556	GABRA3	Thyrotoxicosis with toxic multinodular goitre	HP:0011785
2556	GABRA3	Thyrotoxicosis with toxic single thyroid nodule	HP:0011786
2556	GABRA3	Decreased urinary potassium	HP:0012364
2556	GABRA3	Tetraplegia	HP:0002445
2556	GABRA3	Hyperhidrosis	HP:0000975
2556	GABRA3	Urinary retention	HP:0000016
2556	GABRA3	Increased intramyocellular lipid droplets	HP:0012240
2556	GABRA3	Ophthalmoparesis	HP:0000597
2556	GABRA3	Periodic hypokalemic paresis	HP:0008153
2556	GABRA3	Respiratory paralysis	HP:0002203
2556	GABRA3	Transient hypophosphatemia	HP:0008285
2556	GABRA3	Postprandial hyperglycemia	HP:0011998
2556	GABRA3	Weight loss	HP:0001824
2556	GABRA3	Muscle stiffness	HP:0003552
2556	GABRA3	Constipation	HP:0002019
2556	GABRA3	Hypomagnesemia	HP:0002917
2556	GABRA3	Graves disease	HP:0100647
2556	GABRA3	Episodic flaccid weakness	HP:0003752
2556	GABRA3	Obesity	HP:0001513
2556	GABRA3	Hyperkalemia	HP:0002153
2556	GABRA3	Palpitations	HP:0001962
2556	GABRA3	Lower limb muscle weakness	HP:0007340
2556	GABRA3	Shortened PR interval	HP:0005165
2556	GABRA3	Late-onset proximal muscle weakness	HP:0003694
2556	GABRA3	Hyporeflexia	HP:0001265
2556	GABRA3	Mildly elevated creatine kinase	HP:0008180
2556	GABRA3	Episodic hypokalemia	HP:0012726
2556	GABRA3	Prolonged QT interval	HP:0001657
2556	GABRA3	Tremor	HP:0001337
2556	GABRA3	Second degree atrioventricular block	HP:0011706
2556	GABRA3	Exercise-induced muscle fatigue	HP:0009020
2556	GABRA3	Ventricular fibrillation	HP:0001663
10749	KIF1C	Spastic ataxia	HP:0002497
10749	KIF1C	Hyperreflexia	HP:0001347
10749	KIF1C	Abnormality of the cerebral white matter	HP:0002500
10749	KIF1C	Autosomal recessive inheritance	HP:0000007
10749	KIF1C	Cerebral atrophy	HP:0002059
10749	KIF1C	Fasciculations	HP:0002380
10749	KIF1C	Unsteady gait	HP:0002317
10749	KIF1C	Erratic myoclonus	HP:0025357
10749	KIF1C	Gait ataxia	HP:0002066
10749	KIF1C	Chorea	HP:0002072
10749	KIF1C	Peripheral demyelination	HP:0011096
10749	KIF1C	Torticollis	HP:0000473
10749	KIF1C	Horizontal nystagmus	HP:0000666
10749	KIF1C	Lower limb hyperreflexia	HP:0002395
10749	KIF1C	Progressive	HP:0003676
10749	KIF1C	Hypodontia	HP:0000668
10749	KIF1C	Dysmetria	HP:0001310
10749	KIF1C	Babinski sign	HP:0003487
10749	KIF1C	Intention tremor	HP:0002080
10749	KIF1C	Short stature	HP:0004322
10749	KIF1C	Tip-toe gait	HP:0030051
10749	KIF1C	Peripheral neuropathy	HP:0009830
10749	KIF1C	Head titubation	HP:0002599
10749	KIF1C	Intellectual disability, mild	HP:0001256
10749	KIF1C	Spasticity	HP:0001257
10749	KIF1C	Titubation	HP:0030187
10749	KIF1C	Dysarthria	HP:0001260
10749	KIF1C	Distal amyotrophy	HP:0003693
10749	KIF1C	Global developmental delay	HP:0001263
10749	KIF1C	Reduced visual acuity	HP:0007663
10749	KIF1C	Frequent falls	HP:0002359
10749	KIF1C	Cerebellar atrophy	HP:0001272
10749	KIF1C	Clonus	HP:0002169
10749	KIF1C	Microcephaly	HP:0000252
2560	GABRB1	Cerebral visual impairment	HP:0100704
2560	GABRB1	Seizures	HP:0001250
2560	GABRB1	Ataxia	HP:0001251
2560	GABRB1	Epileptic encephalopathy	HP:0200134
2560	GABRB1	Autosomal dominant inheritance	HP:0000006
2560	GABRB1	Developmental regression	HP:0002376
2560	GABRB1	Hypsarrhythmia	HP:0002521
2560	GABRB1	Infantile onset	HP:0003593
2560	GABRB1	Generalized hypotonia	HP:0001290
2560	GABRB1	Global developmental delay	HP:0001263
2560	GABRB1	Hypoplasia of the corpus callosum	HP:0002079
2561	GABRB2	Optic atrophy	HP:0000648
2561	GABRB2	Generalized hypotonia	HP:0001290
2561	GABRB2	Cerebral atrophy	HP:0002059
2561	GABRB2	Unsteady gait	HP:0002317
2561	GABRB2	Rigidity	HP:0002063
2561	GABRB2	Encephalopathy	HP:0001298
2561	GABRB2	Decreased fetal movement	HP:0001558
2561	GABRB2	Hypodontia	HP:0000668
2561	GABRB2	Abnormal myelination	HP:0012447
2561	GABRB2	Retinal degeneration	HP:0000546
2561	GABRB2	EEG abnormality	HP:0002353
2561	GABRB2	Difficulty walking	HP:0002355
2561	GABRB2	Dystonia	HP:0001332
2561	GABRB2	Dyskinesia	HP:0100660
2561	GABRB2	Myoclonus	HP:0001336
2561	GABRB2	Tremor	HP:0001337
2561	GABRB2	Feeding difficulties	HP:0011968
2561	GABRB2	Absent speech	HP:0001344
2561	GABRB2	Epileptic encephalopathy	HP:0200134
2561	GABRB2	Developmental regression	HP:0002376
2561	GABRB2	Limb hypertonia	HP:0002509
2561	GABRB2	Autism	HP:0000717
2561	GABRB2	Status epilepticus	HP:0002133
2561	GABRB2	Hypsarrhythmia	HP:0002521
2561	GABRB2	High forehead	HP:0000348
2561	GABRB2	EEG with multifocal slow activity	HP:0010844
2561	GABRB2	Intellectual disability	HP:0001249
2561	GABRB2	Short stature	HP:0004322
2561	GABRB2	Seizures	HP:0001250
2561	GABRB2	Ataxia	HP:0001251
2561	GABRB2	Gastroesophageal reflux	HP:0002020
2561	GABRB2	Failure to thrive	HP:0001508
2561	GABRB2	Lethargy	HP:0001254
2561	GABRB2	Impulsivity	HP:0100710
2561	GABRB2	Spasticity	HP:0001257
2561	GABRB2	Attention deficit hyperactivity disorder	HP:0007018
2561	GABRB2	Inability to walk	HP:0002540
2561	GABRB2	Downslanted palpebral fissures	HP:0000494
2561	GABRB2	Delayed speech and language development	HP:0000750
2561	GABRB2	Global developmental delay	HP:0001263
2561	GABRB2	Hyporeflexia	HP:0001265
2561	GABRB2	Mental deterioration	HP:0001268
2561	GABRB2	Variable expressivity	HP:0003828
2561	GABRB2	Poor head control	HP:0002421
2561	GABRB2	Abnormality of vision	HP:0000504
2561	GABRB2	Abnormal corpus callosum morphology	HP:0001273
2561	GABRB2	Microcephaly	HP:0000252
2561	GABRB2	Ptosis	HP:0000508
2561	GABRB2	Nystagmus	HP:0000639
2562	GABRB3	Generalized tonic seizures	HP:0010818
2562	GABRB3	Atonic seizures	HP:0010819
2562	GABRB3	Epileptic encephalopathy	HP:0200134
2562	GABRB3	Autosomal dominant inheritance	HP:0000006
2562	GABRB3	Infantile onset	HP:0003593
2562	GABRB3	Generalized hypotonia	HP:0001290
2562	GABRB3	Generalized myoclonic seizures	HP:0002123
2562	GABRB3	Aggressive behavior	HP:0000718
2562	GABRB3	Encephalopathy	HP:0001298
2562	GABRB3	Generalized tonic-clonic seizures	HP:0002069
2562	GABRB3	Autistic behavior	HP:0000729
2562	GABRB3	Falls	HP:0002527
2562	GABRB3	Intellectual disability	HP:0001249
2562	GABRB3	Seizures	HP:0001250
2562	GABRB3	Ataxia	HP:0001251
2562	GABRB3	Atypical absence seizure	HP:0007270
2562	GABRB3	Personality disorder	HP:0012075
2562	GABRB3	Global developmental delay	HP:0001263
2562	GABRB3	Hyperactivity	HP:0000752
2562	GABRB3	Mental deterioration	HP:0001268
2562	GABRB3	Dyskinesia	HP:0100660
2562	GABRB3	Myoclonus	HP:0001336
2562	GABRB3	Abnormality of brainstem morphology	HP:0002363
2562	GABRB3	EEG with focal sharp slow waves	HP:0011195
2562	GABRB3	Focal-onset seizure	HP:0007359
51715	RAB23	Umbilical hernia	HP:0001537
51715	RAB23	Joint contracture of the hand	HP:0009473
51715	RAB23	Omphalocele	HP:0001539
51715	RAB23	Brachydactyly	HP:0001156
51715	RAB23	Transposition of the great arteries	HP:0001669
51715	RAB23	Autosomal recessive inheritance	HP:0000007
51715	RAB23	Oxycephaly	HP:0000263
51715	RAB23	Optic atrophy	HP:0000648
51715	RAB23	Complete duplication of proximal phalanx of the thumb	HP:0009608
51715	RAB23	Postaxial hand polydactyly	HP:0001162
51715	RAB23	Cerebral atrophy	HP:0002059
51715	RAB23	Large foramen magnum	HP:0002700
51715	RAB23	Malar flattening	HP:0000272
51715	RAB23	Conductive hearing impairment	HP:0000405
51715	RAB23	Sensorineural hearing impairment	HP:0000407
51715	RAB23	Midface retrusion	HP:0011800
51715	RAB23	Genu varum	HP:0002970
51715	RAB23	Cryptorchidism	HP:0000028
51715	RAB23	Epicanthus	HP:0000286
51715	RAB23	Depressed nasal bridge	HP:0005280
51715	RAB23	Pseudoepiphyses of the proximal phalanges of the hand	HP:0010275
51715	RAB23	Underdeveloped supraorbital ridges	HP:0009891
51715	RAB23	Broad thumb	HP:0011304
51715	RAB23	Genu valgum	HP:0002857
51715	RAB23	External genital hypoplasia	HP:0003241
51715	RAB23	Metatarsus adductus	HP:0001840
51715	RAB23	Preaxial foot polydactyly	HP:0001841
51715	RAB23	Flared iliac wings	HP:0002869
51715	RAB23	Precocious puberty	HP:0000826
51715	RAB23	Persistence of primary teeth	HP:0006335
51715	RAB23	Kyphoscoliosis	HP:0002751
51715	RAB23	Sacral dimple	HP:0000960
51715	RAB23	Hypoplasia of the maxilla	HP:0000327
51715	RAB23	Hydroureter	HP:0000072
51715	RAB23	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
51715	RAB23	Agenesis of permanent teeth	HP:0006349
51715	RAB23	Opacification of the corneal stroma	HP:0007759
51715	RAB23	Aplasia/Hypoplasia of the middle phalanges of the toes	HP:0010194
51715	RAB23	Craniosynostosis	HP:0001363
51715	RAB23	Polysplenia	HP:0001748
51715	RAB23	Finger syndactyly	HP:0006101
51715	RAB23	Short neck	HP:0000470
51715	RAB23	Coronal craniosynostosis	HP:0004440
51715	RAB23	Scoliosis	HP:0002650
51715	RAB23	Sagittal craniosynostosis	HP:0004442
51715	RAB23	High palate	HP:0000218
51715	RAB23	Lambdoidal craniosynostosis	HP:0004443
51715	RAB23	Micrognathia	HP:0000347
51715	RAB23	Ventricular septal defect	HP:0001629
51715	RAB23	Atrial septal defect	HP:0001631
51715	RAB23	Camptodactyly	HP:0012385
51715	RAB23	Intellectual disability	HP:0001249
51715	RAB23	Abnormal cornea morphology	HP:0000481
51715	RAB23	Short stature	HP:0004322
51715	RAB23	Microcornea	HP:0000482
51715	RAB23	Spina bifida occulta	HP:0003298
51715	RAB23	Talipes equinovarus	HP:0001762
51715	RAB23	Tetralogy of Fallot	HP:0001636
51715	RAB23	Obesity	HP:0001513
51715	RAB23	Pulmonic stenosis	HP:0001642
51715	RAB23	Toe syndactyly	HP:0001770
51715	RAB23	Patent ductus arteriosus	HP:0001643
51715	RAB23	Duplication of the proximal phalanx of the hallux	HP:0010093
51715	RAB23	Shallow acetabular fossae	HP:0003182
51715	RAB23	Clinodactyly of the 5th finger	HP:0004209
51715	RAB23	Coxa valga	HP:0002673
51715	RAB23	Low-set ears	HP:0000369
51715	RAB23	Preauricular pit	HP:0004467
51715	RAB23	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0009843
51715	RAB23	Cloverleaf skull	HP:0002676
51715	RAB23	Brachycephaly	HP:0000248
51715	RAB23	Abnormality of the pinna	HP:0000377
51715	RAB23	Telecanthus	HP:0000506
51715	RAB23	Lateral displacement of patellae	HP:0006397
51715	RAB23	Hydronephrosis	HP:0000126
2563	GABRD	Cataract	HP:0000518
2563	GABRD	Gait disturbance	HP:0001288
2563	GABRD	Delayed cranial suture closure	HP:0000270
2563	GABRD	Hemiplegia/hemiparesis	HP:0004374
2563	GABRD	Midface retrusion	HP:0011800
2563	GABRD	Abnormality of the anus	HP:0004378
2563	GABRD	Cryptorchidism	HP:0000028
2563	GABRD	Epicanthus	HP:0000286
2563	GABRD	Polyphagia	HP:0002591
2563	GABRD	Hypoplasia of penis	HP:0008736
2563	GABRD	Foot polydactyly	HP:0001829
2563	GABRD	Photosensitive tonic-clonic seizures	HP:0007207
2563	GABRD	Hypospadias	HP:0000047
2563	GABRD	EEG abnormality	HP:0002353
2563	GABRD	High hypermetropia	HP:0008499
2563	GABRD	Pointed chin	HP:0000307
2563	GABRD	Hypothyroidism	HP:0000821
2563	GABRD	Abnormality of female external genitalia	HP:0000055
2563	GABRD	Absent speech	HP:0001344
2563	GABRD	Febrile seizures	HP:0002373
2563	GABRD	Ventriculomegaly	HP:0002119
2563	GABRD	Cerebral cortical atrophy	HP:0002120
2563	GABRD	Absence seizure	HP:0002121
2563	GABRD	Ocular albinism	HP:0001107
2563	GABRD	Status epilepticus	HP:0002133
2563	GABRD	Long philtrum	HP:0000343
2563	GABRD	Spinal canal stenosis	HP:0003416
2563	GABRD	Morning myoclonic jerks	HP:0007000
2563	GABRD	EEG with polyspike wave complexes	HP:0002392
2563	GABRD	Scoliosis	HP:0002650
2563	GABRD	Tetralogy of Fallot	HP:0001636
2563	GABRD	Microtia	HP:0008551
2563	GABRD	Hip dysplasia	HP:0001385
2563	GABRD	Patent ductus arteriosus	HP:0001643
2563	GABRD	Renal cyst	HP:0000107
2563	GABRD	Joint stiffness	HP:0001387
2563	GABRD	Dilated cardiomyopathy	HP:0001644
2563	GABRD	Self-injurious behavior	HP:0100716
2563	GABRD	11 pairs of ribs	HP:0000878
2563	GABRD	Low-set, posteriorly rotated ears	HP:0000368
2563	GABRD	Clinodactyly of the 5th finger	HP:0004209
2563	GABRD	Hepatic steatosis	HP:0001397
2563	GABRD	Abnormal heart valve morphology	HP:0001654
2563	GABRD	Bifid ribs	HP:0000892
2563	GABRD	Hydronephrosis	HP:0000126
2563	GABRD	Myopathy	HP:0003198
2563	GABRD	Nystagmus	HP:0000639
2563	GABRD	Abnormal blistering of the skin	HP:0008066
2563	GABRD	Brachydactyly	HP:0001156
2563	GABRD	Rib fusion	HP:0000902
2563	GABRD	Hypogonadism	HP:0000135
2563	GABRD	Abnormal cardiac septum morphology	HP:0001671
2563	GABRD	Optic atrophy	HP:0000648
2563	GABRD	Camptodactyly of finger	HP:0100490
2563	GABRD	Conductive hearing impairment	HP:0000405
2563	GABRD	Sensorineural hearing impairment	HP:0000407
2563	GABRD	Abnormality of the mouth	HP:0000153
2563	GABRD	Narrow mouth	HP:0000160
2563	GABRD	Depressed nasal bridge	HP:0005280
2563	GABRD	Poor speech	HP:0002465
2563	GABRD	Cranial nerve paralysis	HP:0006824
2563	GABRD	Feeding difficulties in infancy	HP:0008872
2563	GABRD	Wide nasal bridge	HP:0000431
2563	GABRD	Generalized hirsutism	HP:0002230
2563	GABRD	Macule	HP:0012733
2563	GABRD	Neuroblastoma	HP:0003006
2563	GABRD	Abnormal intestine morphology	HP:0002242
2563	GABRD	Annular pancreas	HP:0001734
2563	GABRD	Depressed nasal ridge	HP:0000457
2563	GABRD	Autism	HP:0000717
2563	GABRD	Lower limb asymmetry	HP:0100559
2563	GABRD	Aggressive behavior	HP:0000718
2563	GABRD	Abnormality of the spleen	HP:0001743
2563	GABRD	Abnormality of the neck	HP:0000464
2563	GABRD	Frontal bossing	HP:0002007
2563	GABRD	Horizontal eyebrow	HP:0011228
2563	GABRD	Stereotypy	HP:0000733
2563	GABRD	Dysphagia	HP:0002015
2563	GABRD	Intellectual disability	HP:0001249
2563	GABRD	Seizures	HP:0001250
2563	GABRD	Short stature	HP:0004322
2563	GABRD	Constipation	HP:0002019
2563	GABRD	Failure to thrive	HP:0001508
2563	GABRD	Gastroesophageal reflux	HP:0002020
2563	GABRD	Muscular hypotonia	HP:0001252
2563	GABRD	Pyloric stenosis	HP:0002021
2563	GABRD	Strabismus	HP:0000486
2563	GABRD	Obesity	HP:0001513
2563	GABRD	Deeply set eye	HP:0000490
2563	GABRD	Short foot	HP:0001773
2563	GABRD	Global developmental delay	HP:0001263
2563	GABRD	Abnormality of eye movement	HP:0000496
2563	GABRD	Telangiectasia	HP:0001009
2563	GABRD	Brachycephaly	HP:0000248
2563	GABRD	Kyphosis	HP:0002808
2563	GABRD	Visual impairment	HP:0000505
2563	GABRD	Aortic arch aneurysm	HP:0005113
2563	GABRD	Agenesis of corpus callosum	HP:0001274
2563	GABRD	Microcephaly	HP:0000252
338433	SNORD115-1	Clinodactyly	HP:0030084
338433	SNORD115-1	Acromicria	HP:0031878
338433	SNORD115-1	Syndactyly	HP:0001159
338433	SNORD115-1	Generalized hypotonia	HP:0001290
338433	SNORD115-1	Dolichocephaly	HP:0000268
338433	SNORD115-1	Primary amenorrhea	HP:0000786
338433	SNORD115-1	Infertility	HP:0000789
338433	SNORD115-1	Decreased fetal movement	HP:0001558
338433	SNORD115-1	Downturned corners of mouth	HP:0002714
338433	SNORD115-1	Cryptorchidism	HP:0000028
338433	SNORD115-1	Hypermetropia	HP:0000540
338433	SNORD115-1	Recurrent respiratory infections	HP:0002205
338433	SNORD115-1	Carious teeth	HP:0000670
338433	SNORD115-1	Polyphagia	HP:0002591
338433	SNORD115-1	Impaired pain sensation	HP:0007328
338433	SNORD115-1	Sporadic	HP:0003745
338433	SNORD115-1	Myopia	HP:0000545
338433	SNORD115-1	Sleep apnea	HP:0010535
338433	SNORD115-1	Neonatal hypotonia	HP:0001319
338433	SNORD115-1	Genu valgum	HP:0002857
338433	SNORD115-1	Osteopenia	HP:0000938
338433	SNORD115-1	Osteoporosis	HP:0000939
338433	SNORD115-1	Hypogonadotrophic hypogonadism	HP:0000044
338433	SNORD115-1	Scrotal hypoplasia	HP:0000046
338433	SNORD115-1	Specific learning disability	HP:0001328
338433	SNORD115-1	Iris hypopigmentation	HP:0007730
338433	SNORD115-1	Esotropia	HP:0000565
338433	SNORD115-1	Micropenis	HP:0000054
338433	SNORD115-1	Delayed puberty	HP:0000823
338433	SNORD115-1	Short palm	HP:0004279
338433	SNORD115-1	Growth hormone deficiency	HP:0000824
338433	SNORD115-1	Precocious puberty	HP:0000826
338433	SNORD115-1	Narrow palm	HP:0004283
338433	SNORD115-1	Frontal upsweep of hair	HP:0002236
338433	SNORD115-1	Clitoral hypoplasia	HP:0000060
338433	SNORD115-1	Narrow nasal bridge	HP:0000446
338433	SNORD115-1	Hypoplastic labia minora	HP:0000064
338433	SNORD115-1	Almond-shaped palpebral fissure	HP:0007874
338433	SNORD115-1	Psychosis	HP:0000709
338433	SNORD115-1	Upslanted palpebral fissure	HP:0000582
338433	SNORD115-1	Ventriculomegaly	HP:0002119
338433	SNORD115-1	Abdominal obesity	HP:0012743
338433	SNORD115-1	Hyperinsulinemia	HP:0000842
338433	SNORD115-1	Nasal speech	HP:0001611
338433	SNORD115-1	Autism	HP:0000717
338433	SNORD115-1	Adrenal insufficiency	HP:0000846
338433	SNORD115-1	Temperature instability	HP:0005968
338433	SNORD115-1	Narrow forehead	HP:0000341
338433	SNORD115-1	Generalized hypopigmentation	HP:0007513
338433	SNORD115-1	Type II diabetes mellitus	HP:0005978
338433	SNORD115-1	Scoliosis	HP:0002650
338433	SNORD115-1	Thin upper lip vermilion	HP:0000219
338433	SNORD115-1	Hypopigmentation of hair	HP:0005599
338433	SNORD115-1	Cutaneous photosensitivity	HP:0000992
338433	SNORD115-1	Seizures	HP:0001250
338433	SNORD115-1	Short stature	HP:0004322
338433	SNORD115-1	Poor fine motor coordination	HP:0007010
338433	SNORD115-1	Poor gross motor coordination	HP:0007015
338433	SNORD115-1	Hypoventilation	HP:0002791
338433	SNORD115-1	Hip dysplasia	HP:0001385
338433	SNORD115-1	Attention deficit hyperactivity disorder	HP:0007018
338433	SNORD115-1	Oligomenorrhea	HP:0000876
338433	SNORD115-1	Short foot	HP:0001773
338433	SNORD115-1	Delayed speech and language development	HP:0000750
338433	SNORD115-1	Global developmental delay	HP:0001263
338433	SNORD115-1	Poor suck	HP:0002033
338433	SNORD115-1	Small hand	HP:0200055
338433	SNORD115-1	Motor delay	HP:0001270
338433	SNORD115-1	Kyphosis	HP:0002808
338433	SNORD115-1	Radial deviation of finger	HP:0009466
338433	SNORD115-1	Failure to thrive in infancy	HP:0001531
338433	SNORD115-1	Decreased muscle mass	HP:0003199
10758	TRAF3IP2	Dyspareunia	HP:0030016
10758	TRAF3IP2	Hyperkeratosis	HP:0000962
10758	TRAF3IP2	Abnormal toenail morphology	HP:0008388
10758	TRAF3IP2	Autosomal recessive inheritance	HP:0000007
10758	TRAF3IP2	Recurrent urinary tract infections	HP:0000010
10758	TRAF3IP2	Abnormal vagina morphology	HP:0000142
10758	TRAF3IP2	Abnormal fingernail morphology	HP:0001231
10758	TRAF3IP2	Abnormality of temperature regulation	HP:0004370
10758	TRAF3IP2	Abnormal endocardium morphology	HP:0004306
10758	TRAF3IP2	Hepatitis	HP:0012115
10758	TRAF3IP2	Hematuria	HP:0000790
10758	TRAF3IP2	Cheilitis	HP:0100825
10758	TRAF3IP2	Skin rash	HP:0000988
10758	TRAF3IP2	Broad nail	HP:0001821
10758	TRAF3IP2	Pruritus	HP:0000989
10758	TRAF3IP2	Recurrent respiratory infections	HP:0002205
10758	TRAF3IP2	Macroglossia	HP:0000158
10758	TRAF3IP2	Erythema	HP:0010783
10758	TRAF3IP2	Papule	HP:0200034
10758	TRAF3IP2	Seizures	HP:0001250
10758	TRAF3IP2	Feeding difficulties in infancy	HP:0008872
10758	TRAF3IP2	Skin ulcer	HP:0200042
10758	TRAF3IP2	Abnormality of dental enamel	HP:0000682
10758	TRAF3IP2	Onychomycosis	HP:0012203
10758	TRAF3IP2	Blepharitis	HP:0000498
10758	TRAF3IP2	Abnormality of vision	HP:0000504
10758	TRAF3IP2	Hemoptysis	HP:0002105
10758	TRAF3IP2	Cough	HP:0012735
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 seizure	HP:0002121
2566	GABRG2	Generalized myoclonic seizures	HP:0002123
2566	GABRG2	Psychomotor retardation	HP:0025356
2566	GABRG2	Obtundation status	HP:0011151
2566	GABRG2	Focal impaired awareness seizure	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-onset seizure	HP:0007359
2571	GAD1	Intellectual disability	HP:0001249
2571	GAD1	Seizures	HP:0001250
2571	GAD1	Hyperreflexia	HP:0001347
2571	GAD1	Autosomal recessive inheritance	HP:0000007
2571	GAD1	Infantile onset	HP:0003593
2571	GAD1	Spastic tetraplegia	HP:0002510
2571	GAD1	Global developmental delay	HP:0001263
2571	GAD1	Spastic diplegia	HP:0001264
2571	GAD1	Heterogeneous	HP:0001425
2571	GAD1	Cerebral palsy	HP:0100021
2571	GAD1	Scoliosis	HP:0002650
2571	GAD1	Flexion contracture	HP:0001371
2571	GAD1	Microcephaly	HP:0000252
2571	GAD1	Babinski sign	HP:0003487
27148	STK36	Recurrent respiratory infections	HP:0002205
10765	KDM5B	Delayed ability to walk	HP:0031936
10765	KDM5B	Square face	HP:0000321
10765	KDM5B	Myopia	HP:0000545
10765	KDM5B	Astigmatism	HP:0000483
10765	KDM5B	Intellectual disability, moderate	HP:0002342
10765	KDM5B	Strabismus	HP:0000486
10765	KDM5B	Infantile onset	HP:0003593
10765	KDM5B	Prominent nasal bridge	HP:0000426
10765	KDM5B	Unsteady gait	HP:0002317
10765	KDM5B	Downslanted palpebral fissures	HP:0000494
10765	KDM5B	Delayed speech and language development	HP:0000750
10765	KDM5B	Global developmental delay	HP:0001263
10765	KDM5B	Prominent metopic ridge	HP:0005487
10765	KDM5B	Hypospadias	HP:0000047
10765	KDM5B	Ptosis	HP:0000508
10765	KDM5B	Cryptorchidism	HP:0000028
10765	KDM5B	Bulbous nose	HP:0000414
10765	KDM5B	Hypoplasia of the corpus callosum	HP:0002079
51726	DNAJB11	Autosomal dominant inheritance	HP:0000006
51726	DNAJB11	Progressive	HP:0003676
51726	DNAJB11	Adult onset	HP:0003581
51726	DNAJB11	Stage 5 chronic kidney disease	HP:0003774
27151	CPAMD8	Iridodonesis	HP:0100693
27151	CPAMD8	Iris transillumination defect	HP:0012805
27151	CPAMD8	Optic nerve dysplasia	HP:0001093
27151	CPAMD8	Cataract	HP:0000518
27151	CPAMD8	Autosomal recessive inheritance	HP:0000007
27151	CPAMD8	Microphakia	HP:0012376
27151	CPAMD8	Ectopia lentis	HP:0001083
27151	CPAMD8	Hypoplasia of the iris	HP:0007676
27151	CPAMD8	Persistent pupillary membrane	HP:0009917
27151	CPAMD8	Uveal ectropion	HP:0025358
27151	CPAMD8	Ectopia pupillae	HP:0009918
27152	INTU	Septate vagina	HP:0001153
27152	INTU	Central Y-shaped metacarpal	HP:0006145
27152	INTU	Wide anterior fontanel	HP:0000260
27152	INTU	Clinodactyly	HP:0030084
27152	INTU	Short ribs	HP:0000773
27152	INTU	Narrow chest	HP:0000774
27152	INTU	Autosomal recessive inheritance	HP:0000007
27152	INTU	Complete atrioventricular canal defect	HP:0001674
27152	INTU	Large posterior fontanelle	HP:0004491
27152	INTU	High, narrow palate	HP:0002705
27152	INTU	Esophageal diverticulum	HP:0100628
27152	INTU	Clubbing of fingers	HP:0100759
27152	INTU	Retrognathia	HP:0000278
27152	INTU	Hamartoma of tongue	HP:0011802
27152	INTU	Median cleft lip	HP:0000161
27152	INTU	Postaxial polydactyly	HP:0100259
27152	INTU	Preaxial polydactyly	HP:0100258
27152	INTU	Absent nasal bridge	HP:0005285
27152	INTU	Cleft lip	HP:0410030
27152	INTU	Pulmonary hypoplasia	HP:0002089
27152	INTU	Laryngeal hypoplasia	HP:0008749
27152	INTU	Cleft palate	HP:0000175
27152	INTU	Uterus didelphys	HP:0003762
27152	INTU	Micropenis	HP:0000054
27152	INTU	Natal tooth	HP:0000695
27152	INTU	Microphthalmia	HP:0000568
27152	INTU	Hypertelorism	HP:0000316
27152	INTU	Prominent nose	HP:0000448
27152	INTU	Ventriculomegaly	HP:0002119
27152	INTU	Polydactyly	HP:0010442
27152	INTU	Long thorax	HP:0100818
27152	INTU	Short neck	HP:0000470
27152	INTU	Frontal bossing	HP:0002007
27152	INTU	Partial duplication of thumb phalanx	HP:0009944
27152	INTU	Renal hypoplasia	HP:0000089
27152	INTU	Micrognathia	HP:0000347
27152	INTU	Fibular hypoplasia	HP:0003038
27152	INTU	Decreased calvarial ossification	HP:0005474
27152	INTU	Short stature	HP:0004322
27152	INTU	Neonatal death	HP:0003811
27152	INTU	Narrow sacroiliac notch	HP:0008803
27152	INTU	Tetralogy of Fallot	HP:0001636
27152	INTU	Hypoplastic pubic bone	HP:0003173
27152	INTU	CNS hypomyelination	HP:0003429
27152	INTU	Decreased body weight	HP:0004325
27152	INTU	Anal atresia	HP:0002023
27152	INTU	Microtia	HP:0008551
27152	INTU	Short tibia	HP:0005736
27152	INTU	Short middle phalanx of the 2nd finger	HP:0009577
27152	INTU	Hearing impairment	HP:0000365
27152	INTU	Delayed speech and language development	HP:0000750
27152	INTU	Prominent metopic ridge	HP:0005487
27152	INTU	Low-set ears	HP:0000369
27152	INTU	Low posterior hairline	HP:0002162
27152	INTU	Inverted nipples	HP:0003186
27152	INTU	Brachycephaly	HP:0000248
27152	INTU	Horizontal ribs	HP:0000888
27152	INTU	Lateral clavicle hook	HP:0000895
10771	ZMYND11	Autosomal dominant inheritance	HP:0000006
10771	ZMYND11	Intellectual disability, mild	HP:0001256
10771	ZMYND11	Wide mouth	HP:0000154
10771	ZMYND11	Ptosis	HP:0000508
10771	ZMYND11	Hypertelorism	HP:0000316
10771	ZMYND11	Aggressive behavior	HP:0000718
10771	ZMYND11	Delayed speech and language development	HP:0000750
10771	ZMYND11	Global developmental delay	HP:0001263
10771	ZMYND11	Abnormal facial shape	HP:0001999
2581	GALC	Neurodegeneration	HP:0002180
2581	GALC	Autosomal recessive inheritance	HP:0000007
2581	GALC	Optic atrophy	HP:0000648
2581	GALC	Developmental regression	HP:0002376
2581	GALC	CNS demyelination	HP:0007305
2581	GALC	Diffuse cerebral atrophy	HP:0002506
2581	GALC	Progressive spasticity	HP:0002191
2581	GALC	Hyperactive deep tendon reflexes	HP:0006801
2581	GALC	Peripheral demyelination	HP:0011096
2581	GALC	Motor deterioration	HP:0002333
2581	GALC	Vomiting	HP:0002013
2581	GALC	Seizures	HP:0001250
2581	GALC	Recurrent fever	HP:0001954
2581	GALC	Failure to thrive	HP:0001508
2581	GALC	Muscular hypotonia	HP:0001252
2581	GALC	Sensorimotor neuropathy	HP:0007141
2581	GALC	Blindness	HP:0000618
2581	GALC	Increased CSF protein	HP:0002922
2581	GALC	Hearing impairment	HP:0000365
2581	GALC	Hydrocephalus	HP:0000238
2581	GALC	EEG abnormality	HP:0002353
2581	GALC	Autoimmune thrombocytopenia	HP:0001973
2581	GALC	Decerebrate rigidity	HP:0025013
2581	GALC	Abnormal flash visual evoked potentials	HP:0007928
2581	GALC	Decreased nerve conduction velocity	HP:0000762
2581	GALC	Hypertonia	HP:0001276
2581	GALC	Nystagmus	HP:0000639
51733	UPB1	Intellectual disability	HP:0001249
51733	UPB1	Neonatal hypotonia	HP:0001319
51733	UPB1	Anal atresia	HP:0002023
51733	UPB1	Autosomal recessive inheritance	HP:0000007
51733	UPB1	Infantile onset	HP:0003593
51733	UPB1	Delayed CNS myelination	HP:0002188
51733	UPB1	Global developmental delay	HP:0001263
51733	UPB1	Bifid scrotum	HP:0000048
51733	UPB1	Dystonia	HP:0001332
51733	UPB1	Bladder exstrophy	HP:0002836
51733	UPB1	Status epilepticus	HP:0002133
51733	UPB1	Neurological speech impairment	HP:0002167
51733	UPB1	Hypsarrhythmia	HP:0002521
51733	UPB1	Scoliosis	HP:0002650
51733	UPB1	Microcephaly	HP:0000252
2582	GALE	Hepatomegaly	HP:0002240
2582	GALE	Intellectual disability	HP:0001249
2582	GALE	Muscular hypotonia	HP:0001252
2582	GALE	Failure to thrive	HP:0001508
2582	GALE	Autosomal recessive inheritance	HP:0000007
2582	GALE	Generalized hypotonia	HP:0001290
2582	GALE	Delayed speech and language development	HP:0000750
2582	GALE	Global developmental delay	HP:0001263
2582	GALE	Splenomegaly	HP:0001744
2582	GALE	Delayed gross motor development	HP:0002194
2582	GALE	Sensorineural hearing impairment	HP:0000407
2582	GALE	Galactosuria	HP:0012023
2582	GALE	Hypergalactosemia	HP:0012024
2582	GALE	Jaundice	HP:0000952
2582	GALE	Aminoaciduria	HP:0003355
2582	GALE	Vomiting	HP:0002013
2583	B4GALNT1	Skeletal muscle atrophy	HP:0003202
2583	B4GALNT1	Hyperreflexia	HP:0001347
2583	B4GALNT1	Cataract	HP:0000518
2583	B4GALNT1	Autosomal recessive inheritance	HP:0000007
2583	B4GALNT1	Cerebral cortical atrophy	HP:0002120
2583	B4GALNT1	Emotional lability	HP:0000712
2583	B4GALNT1	Gait disturbance	HP:0001288
2583	B4GALNT1	Urinary urgency	HP:0000012
2583	B4GALNT1	Lower limb spasticity	HP:0002061
2583	B4GALNT1	Abnormality of the urinary system	HP:0000079
2583	B4GALNT1	Spastic gait	HP:0002064
2583	B4GALNT1	Premature ovarian insufficiency	HP:0008209
2583	B4GALNT1	Toe walking	HP:0040083
2583	B4GALNT1	Scoliosis	HP:0002650
2583	B4GALNT1	Impaired vibration sensation at ankles	HP:0006938
2583	B4GALNT1	Progressive	HP:0003676
2583	B4GALNT1	Slow progression	HP:0003677
2583	B4GALNT1	Dysmetria	HP:0001310
2583	B4GALNT1	Babinski sign	HP:0003487
2583	B4GALNT1	Pes cavus	HP:0001761
2583	B4GALNT1	Intellectual disability	HP:0001249
2583	B4GALNT1	Abnormal cerebellum morphology	HP:0001317
2583	B4GALNT1	Sensorimotor neuropathy	HP:0007141
2583	B4GALNT1	Intellectual disability, mild	HP:0001256
2583	B4GALNT1	Spastic paraplegia	HP:0001258
2583	B4GALNT1	Hyperintensity of cerebral white matter on MRI	HP:0030890
2583	B4GALNT1	Decreased serum testosterone level	HP:0040171
2583	B4GALNT1	Dysarthria	HP:0001260
2583	B4GALNT1	Muscle weakness	HP:0001324
2583	B4GALNT1	Distal amyotrophy	HP:0003693
2583	B4GALNT1	Pseudobulbar paralysis	HP:0007024
2583	B4GALNT1	Hyporeflexia	HP:0001265
2583	B4GALNT1	Difficulty walking	HP:0002355
2583	B4GALNT1	Dystonia	HP:0001332
2583	B4GALNT1	Dyskinesia	HP:0100660
2583	B4GALNT1	Frequent falls	HP:0002359
2583	B4GALNT1	Nystagmus	HP:0000639
2584	GALK1	Impairment of galactose metabolism	HP:0004915
2584	GALK1	Prolonged neonatal jaundice	HP:0006579
2584	GALK1	Increased intracranial pressure	HP:0002516
2584	GALK1	Cataract	HP:0000518
2584	GALK1	Galactosuria	HP:0012023
2584	GALK1	Autosomal recessive inheritance	HP:0000007
2584	GALK1	Hypergalactosemia	HP:0012024
84504	NKX6-2	Hyperreflexia	HP:0001347
84504	NKX6-2	Autosomal recessive inheritance	HP:0000007
84504	NKX6-2	Infantile onset	HP:0003593
84504	NKX6-2	Generalized hypotonia	HP:0001290
84504	NKX6-2	Cerebral atrophy	HP:0002059
84504	NKX6-2	Progressive spasticity	HP:0002191
84504	NKX6-2	Limb ataxia	HP:0002070
84504	NKX6-2	Abnormal pyramidal sign	HP:0007256
84504	NKX6-2	Paroxysmal involuntary eye movements	HP:0007704
84504	NKX6-2	Scoliosis	HP:0002650
84504	NKX6-2	Progressive	HP:0003676
84504	NKX6-2	Truncal ataxia	HP:0002078
84504	NKX6-2	Hypoplasia of the corpus callosum	HP:0002079
84504	NKX6-2	Intellectual disability	HP:0001249
84504	NKX6-2	Seizures	HP:0001250
84504	NKX6-2	Ataxia	HP:0001251
84504	NKX6-2	CNS hypomyelination	HP:0003429
84504	NKX6-2	Strabismus	HP:0000486
84504	NKX6-2	Head titubation	HP:0002599
84504	NKX6-2	Spasticity	HP:0001257
84504	NKX6-2	Hyperintensity of cerebral white matter on MRI	HP:0030890
84504	NKX6-2	Dysarthria	HP:0001260
84504	NKX6-2	Leukodystrophy	HP:0002415
84504	NKX6-2	Hirsutism	HP:0001007
84504	NKX6-2	Global developmental delay	HP:0001263
84504	NKX6-2	Difficulty walking	HP:0002355
84504	NKX6-2	Dystonia	HP:0001332
84504	NKX6-2	Motor delay	HP:0001270
84504	NKX6-2	Cerebellar atrophy	HP:0001272
84504	NKX6-2	Hypometric saccades	HP:0000571
84504	NKX6-2	Cognitive impairment	HP:0100543
84504	NKX6-2	Nystagmus	HP:0000639
2588	GALNS	Hepatomegaly	HP:0002240
2588	GALNS	Disproportionate short-trunk short stature	HP:0003521
2588	GALNS	Autosomal recessive inheritance	HP:0000007
2588	GALNS	Pointed proximal second through fifth metacarpals	HP:0001223
2588	GALNS	Metaphyseal widening	HP:0003016
2588	GALNS	Flaring of rib cage	HP:0000904
2588	GALNS	Constricted iliac wings	HP:0003277
2588	GALNS	Cervical myelopathy	HP:0002318
2588	GALNS	Opacification of the corneal stroma	HP:0007759
2588	GALNS	Large elbow	HP:0030865
2588	GALNS	Inguinal hernia	HP:0000023
2588	GALNS	Coarse facial features	HP:0000280
2588	GALNS	Wide mouth	HP:0000154
2588	GALNS	Scoliosis	HP:0002650
2588	GALNS	Carious teeth	HP:0000670
2588	GALNS	Platyspondyly	HP:0000926
2588	GALNS	Recurrent upper respiratory tract infections	HP:0002788
2588	GALNS	Ovoid vertebral bodies	HP:0003300
2588	GALNS	Juvenile onset	HP:0003621
2588	GALNS	Keratan sulfate excretion in urine	HP:0012069
2588	GALNS	Chondroitin sulfate excretion in urine	HP:0012070
2588	GALNS	Ulnar deviation of the wrist	HP:0003049
2588	GALNS	Genu valgum	HP:0002857
2588	GALNS	Osteoporosis	HP:0000939
2588	GALNS	Hyperlordosis	HP:0003307
2588	GALNS	Grayish enamel	HP:0000683
2588	GALNS	Restrictive ventilatory defect	HP:0002091
2588	GALNS	Joint laxity	HP:0001388
2588	GALNS	Cervical subluxation	HP:0003308
2588	GALNS	Hearing impairment	HP:0000365
2588	GALNS	Epiphyseal deformities of tubular bones	HP:0003053
2588	GALNS	Mandibular prognathia	HP:0000303
2588	GALNS	Widely spaced teeth	HP:0000687
2588	GALNS	Hypoplasia of the odontoid process	HP:0003311
2588	GALNS	Coxa valga	HP:0002673
2588	GALNS	Prominent sternum	HP:0000884
2588	GALNS	Abnormal heart valve morphology	HP:0001654
2588	GALNS	Kyphosis	HP:0002808
51741	WWOX	Abnormal electroretinogram	HP:0000512
51741	WWOX	Primary gonadal insufficiency	HP:0008193
51741	WWOX	Gynecomastia	HP:0000771
51741	WWOX	Autosomal dominant inheritance	HP:0000006
51741	WWOX	Autosomal recessive inheritance	HP:0000007
51741	WWOX	Generalized hypotonia	HP:0001290
51741	WWOX	Cerebral atrophy	HP:0002059
51741	WWOX	Unsteady gait	HP:0002317
51741	WWOX	Rigidity	HP:0002063
51741	WWOX	Encephalopathy	HP:0001298
51741	WWOX	Gait ataxia	HP:0002066
51741	WWOX	Primary amenorrhea	HP:0000786
51741	WWOX	Decreased fetal movement	HP:0001558
51741	WWOX	Limb ataxia	HP:0002070
51741	WWOX	Hypoplasia of the vagina	HP:0008726
51741	WWOX	Decreased serum estradiol	HP:0008214
51741	WWOX	Urinary bladder sphincter dysfunction	HP:0002839
51741	WWOX	Female external genitalia in individual with 46,XY karyotype	HP:0008730
51741	WWOX	Azoospermia	HP:0000027
51741	WWOX	Cryptorchidism	HP:0000028
51741	WWOX	Decreased testicular size	HP:0008734
51741	WWOX	Testicular gonadoblastoma	HP:0000030
51741	WWOX	Hypoplasia of the corpus callosum	HP:0002079
51741	WWOX	Retinal degeneration	HP:0000546
51741	WWOX	Elevated circulating follicle stimulating hormone level	HP:0008232
51741	WWOX	Squamous cell carcinoma	HP:0002860
51741	WWOX	Abnormality of the scrotum	HP:0000045
51741	WWOX	Hypospadias	HP:0000047
51741	WWOX	Hypergonadotropic hypogonadism	HP:0000815
51741	WWOX	Difficulty walking	HP:0002355
51741	WWOX	Dyskinesia	HP:0100660
51741	WWOX	Micropenis	HP:0000054
51741	WWOX	Delayed puberty	HP:0000823
51741	WWOX	Myoclonus	HP:0001336
51741	WWOX	Tremor	HP:0001337
51741	WWOX	Abnormality of the labia	HP:0000058
51741	WWOX	Ambiguous genitalia	HP:0000062
51741	WWOX	Hyperreflexia	HP:0001347
51741	WWOX	Vanishing testis	HP:0012870
51741	WWOX	Hypokinesia	HP:0002375
51741	WWOX	Developmental regression	HP:0002376
51741	WWOX	Abnormality of the voice	HP:0001608
51741	WWOX	Clinodactyly of the 5th toe	HP:0001864
51741	WWOX	Adrenal insufficiency	HP:0000846
51741	WWOX	Status epilepticus	HP:0002133
51741	WWOX	High forehead	HP:0000348
51741	WWOX	EEG with multifocal slow activity	HP:0010844
51741	WWOX	Decreased fertility in females	HP:0000868
51741	WWOX	Nephrotic syndrome	HP:0000100
51741	WWOX	Impulsivity	HP:0100710
51741	WWOX	Attention deficit hyperactivity disorder	HP:0007018
51741	WWOX	Nephroblastoma	HP:0002667
51741	WWOX	Poor head control	HP:0002421
51741	WWOX	Nystagmus	HP:0000639
51741	WWOX	Gaze-evoked nystagmus	HP:0000640
51741	WWOX	Gonadal dysgenesis	HP:0000133
51741	WWOX	Optic atrophy	HP:0000648
51741	WWOX	Chest pain	HP:0100749
51741	WWOX	Somatic mutation	HP:0001428
51741	WWOX	Ovarian gonadoblastoma	HP:0000149
51741	WWOX	Hypodontia	HP:0000668
51741	WWOX	Lymphadenopathy	HP:0002716
51741	WWOX	Abnormal myelination	HP:0012447
51741	WWOX	Babinski sign	HP:0003487
51741	WWOX	Delayed myelination	HP:0012448
51741	WWOX	Sparse axillary hair	HP:0002215
51741	WWOX	Feeding difficulties in infancy	HP:0008872
51741	WWOX	Urogenital sinus anomaly	HP:0100779
51741	WWOX	Osteoporosis	HP:0000939
51741	WWOX	Sparse pubic hair	HP:0002225
51741	WWOX	Male infertility	HP:0003251
51741	WWOX	Delayed skeletal maturation	HP:0002750
51741	WWOX	Cough	HP:0012735
51741	WWOX	Feeding difficulties	HP:0011968
51741	WWOX	Elevated circulating luteinizing hormone level	HP:0011969
51741	WWOX	Esophageal carcinoma	HP:0011459
51741	WWOX	Epileptic encephalopathy	HP:0200134
51741	WWOX	Limb hypertonia	HP:0002509
51741	WWOX	Autism	HP:0000717
51741	WWOX	Abnormal sex determination	HP:0012244
51741	WWOX	Abnormality of cardiovascular system morphology	HP:0030680
51741	WWOX	Hypsarrhythmia	HP:0002521
51741	WWOX	Clitoral hypertrophy	HP:0008665
51741	WWOX	Streak ovary	HP:0010464
51741	WWOX	Intellectual disability	HP:0001249
51741	WWOX	Nausea and vomiting	HP:0002017
51741	WWOX	Short stature	HP:0004322
51741	WWOX	Seizures	HP:0001250
51741	WWOX	Ataxia	HP:0001251
51741	WWOX	Gastroesophageal reflux	HP:0002020
51741	WWOX	Failure to thrive	HP:0001508
51741	WWOX	Growth delay	HP:0001510
51741	WWOX	Muscular hypotonia of the trunk	HP:0008936
51741	WWOX	Spasticity	HP:0001257
51741	WWOX	Decreased serum testosterone level	HP:0040171
51741	WWOX	Dysarthria	HP:0001260
51741	WWOX	Downslanted palpebral fissures	HP:0000494
51741	WWOX	Delayed speech and language development	HP:0000750
51741	WWOX	Global developmental delay	HP:0001263
51741	WWOX	Hyporeflexia	HP:0001265
51741	WWOX	Mental deterioration	HP:0001268
51741	WWOX	Variable expressivity	HP:0003828
51741	WWOX	Motor delay	HP:0001270
51741	WWOX	Abnormality of vision	HP:0000504
51741	WWOX	Cerebellar atrophy	HP:0001272
51741	WWOX	Abnormal corpus callosum morphology	HP:0001273
51741	WWOX	Absence of secondary sex characteristics	HP:0008187
51741	WWOX	Microcephaly	HP:0000252
51741	WWOX	Ptosis	HP:0000508
51741	WWOX	Progressive microcephaly	HP:0000253
2591	GALNT3	Increased renal tubular phosphate reabsorption	HP:0005571
2591	GALNT3	Decreased renal tubular phosphate excretion	HP:0005572
2591	GALNT3	Juvenile onset	HP:0003621
2591	GALNT3	Vascular calcification	HP:0004934
2591	GALNT3	Autosomal recessive inheritance	HP:0000007
2591	GALNT3	Hyperostosis	HP:0100774
2591	GALNT3	Taurodontia	HP:0000679
2591	GALNT3	Angioid streaks of the fundus	HP:0001102
2591	GALNT3	Calcinosis	HP:0003761
2591	GALNT3	Abnormality of the skin	HP:0000951
2591	GALNT3	Conjunctival whitish salt-like deposits	HP:0007799
2591	GALNT3	Hyperphosphatemia	HP:0002905
2591	GALNT3	Hypoplasia of dental enamel	HP:0006297
2591	GALNT3	Nephrocalcinosis	HP:0000121
2591	GALNT3	Pulp stones	HP:0003771
2591	GALNT3	Subperiosteal bone formation	HP:0031485
2592	GALT	Hepatomegaly	HP:0002240
2592	GALT	Speech articulation difficulties	HP:0009088
2592	GALT	Feeding difficulties	HP:0011968
2592	GALT	Decreased liver function	HP:0001410
2592	GALT	Cataract	HP:0000518
2592	GALT	Autosomal recessive inheritance	HP:0000007
2592	GALT	Sepsis	HP:0100806
2592	GALT	Increased level of galactitol in urine	HP:0410062
2592	GALT	Gait disturbance	HP:0001288
2592	GALT	Increased level of galactonate in red blood cells	HP:0410063
2592	GALT	Abnormality of the ovary	HP:0000137
2592	GALT	Increased level of galactitol in plasma	HP:0410061
2592	GALT	Premature ovarian insufficiency	HP:0008209
2592	GALT	Increased level of galactitol in red blood cells	HP:0410064
2592	GALT	Metabolic acidosis	HP:0001942
2592	GALT	Hemolytic anemia	HP:0001878
2592	GALT	Hypoglycemia	HP:0001943
2592	GALT	Speech apraxia	HP:0011098
2592	GALT	Aminoaciduria	HP:0003355
2592	GALT	Vomiting	HP:0002013
2592	GALT	Diarrhea	HP:0002014
2592	GALT	Weight loss	HP:0001824
2592	GALT	Intellectual disability	HP:0001249
2592	GALT	Nausea and vomiting	HP:0002017
2592	GALT	Ataxia	HP:0001251
2592	GALT	Neonatal death	HP:0003811
2592	GALT	Failure to thrive	HP:0001508
2592	GALT	Abnormal bleeding	HP:0001892
2592	GALT	Decreased fertility in females	HP:0000868
2592	GALT	Lethargy	HP:0001254
2592	GALT	Osteoporosis	HP:0000939
2592	GALT	Dysarthria	HP:0001260
2592	GALT	Hypergonadotropic hypogonadism	HP:0000815
2592	GALT	Albuminuria	HP:0012592
2592	GALT	Cirrhosis	HP:0001394
2592	GALT	Impairment of galactose metabolism	HP:0004915
2592	GALT	Hyperchloremic metabolic acidosis	HP:0004918
2592	GALT	Galactosuria	HP:0012023
2592	GALT	Hepatic failure	HP:0001399
2592	GALT	Hypergalactosemia	HP:0012024
2592	GALT	Jaundice	HP:0000952
2592	GALT	Tremor	HP:0001337
10785	WDR4	Camptodactyly of finger	HP:0100490
10785	WDR4	Macrotia	HP:0000400
10785	WDR4	Pachygyria	HP:0001302
10785	WDR4	Hemiplegia/hemiparesis	HP:0004374
10785	WDR4	Premature birth	HP:0001622
10785	WDR4	Hypotelorism	HP:0000601
10785	WDR4	Micrognathia	HP:0000347
10785	WDR4	Adducted thumb	HP:0001181
10785	WDR4	Proteinuria	HP:0000093
10785	WDR4	Abnormality of immune system physiology	HP:0010978
10785	WDR4	Short stature	HP:0004322
10785	WDR4	Seizures	HP:0001250
10785	WDR4	Nephrotic syndrome	HP:0000100
10785	WDR4	Abnormality of the dentition	HP:0000164
10785	WDR4	Muscular hypotonia	HP:0001252
10785	WDR4	Intrauterine growth retardation	HP:0001511
10785	WDR4	Aqueductal stenosis	HP:0002410
10785	WDR4	Global developmental delay	HP:0001263
10785	WDR4	Nephropathy	HP:0000112
10785	WDR4	Hypoplasia of the ear cartilage	HP:0100720
10785	WDR4	EEG abnormality	HP:0002353
10785	WDR4	Abnormality of the intervertebral disk	HP:0005108
10785	WDR4	Hiatus hernia	HP:0002036
10785	WDR4	Microcephaly	HP:0000252
10785	WDR4	Hypertelorism	HP:0000316
10785	WDR4	Hypertonia	HP:0001276
10785	WDR4	Cognitive impairment	HP:0100543
2593	GAMT	Intellectual disability	HP:0001249
2593	GAMT	Progressive extrapyramidal movement disorder	HP:0007153
2593	GAMT	Seizures	HP:0001250
2593	GAMT	Hyperreflexia	HP:0001347
2593	GAMT	Ataxia	HP:0001251
2593	GAMT	Infantile muscular hypotonia	HP:0008947
2593	GAMT	Autosomal recessive inheritance	HP:0000007
2593	GAMT	Myoclonus	HP:0001336
2593	GAMT	Reduced brain creatine level by MRS	HP:0025051
2593	GAMT	Hypertonia	HP:0001276
2593	GAMT	Delayed speech and language development	HP:0000750
2593	GAMT	Global developmental delay	HP:0001263
84515	MCM8	Elevated circulating luteinizing hormone level	HP:0011969
84515	MCM8	Premature ovarian insufficiency	HP:0008209
84515	MCM8	Primary amenorrhea	HP:0000786
84515	MCM8	Hypoplasia of the ovary	HP:0008724
84515	MCM8	Hypothyroidism	HP:0000821
84515	MCM8	Autosomal recessive inheritance	HP:0000007
84515	MCM8	Elevated circulating follicle stimulating hormone level	HP:0008232
84515	MCM8	Azoospermia	HP:0000027
84515	MCM8	Decreased testicular size	HP:0008734
51750	RTEL1	Aplastic/hypoplastic toenail	HP:0010624
51750	RTEL1	Aplasia/Hypoplasia of the skin	HP:0008065
51750	RTEL1	Abnormal blistering of the skin	HP:0008066
51750	RTEL1	Avascular necrosis	HP:0010885
51750	RTEL1	Autosomal dominant inheritance	HP:0000006
51750	RTEL1	Cataract	HP:0000518
51750	RTEL1	Sparse hair	HP:0008070
51750	RTEL1	Autosomal recessive inheritance	HP:0000007
51750	RTEL1	Abnormality of coagulation	HP:0001928
51750	RTEL1	Abnormality of female internal genitalia	HP:0000008
51750	RTEL1	Hypermelanotic macule	HP:0001034
51750	RTEL1	Tracheoesophageal fistula	HP:0002575
51750	RTEL1	Generalized hyperpigmentation	HP:0007440
51750	RTEL1	Displacement of the urethral meatus	HP:0100627
51750	RTEL1	Clubbing of fingers	HP:0100759
51750	RTEL1	Abnormal eyebrow morphology	HP:0000534
51750	RTEL1	Colitis	HP:0002583
51750	RTEL1	Bone marrow hypocellularity	HP:0005528
51750	RTEL1	Hypodontia	HP:0000668
51750	RTEL1	Recurrent respiratory infections	HP:0002205
51750	RTEL1	Hypopigmented skin patches	HP:0001053
51750	RTEL1	Pulmonary fibrosis	HP:0002206
51750	RTEL1	Carious teeth	HP:0000670
51750	RTEL1	Immunodeficiency	HP:0002721
51750	RTEL1	Sparse scalp hair	HP:0002209
51750	RTEL1	Abnormal testis morphology	HP:0000035
51750	RTEL1	Taurodontia	HP:0000679
51750	RTEL1	Premature graying of hair	HP:0002216
51750	RTEL1	Cerebellar hypoplasia	HP:0001321
51750	RTEL1	Osteoporosis	HP:0000939
51750	RTEL1	Reticular pattern on pulmonary HRCT	HP:0025390
51750	RTEL1	Diabetes mellitus	HP:0000819
51750	RTEL1	Oral leukoplakia	HP:0002745
51750	RTEL1	Exertional dyspnea	HP:0002875
51750	RTEL1	Anorectal anomaly	HP:0012732
51750	RTEL1	Alopecia	HP:0001596
51750	RTEL1	Bronchiectasis	HP:0002110
51750	RTEL1	Cough	HP:0012735
51750	RTEL1	Rough bone trabeculation	HP:0100670
51750	RTEL1	Hepatomegaly	HP:0002240
51750	RTEL1	Periodontitis	HP:0000704
51750	RTEL1	Postnatal growth retardation	HP:0008897
51750	RTEL1	Recurrent fractures	HP:0002757
51750	RTEL1	Ventriculomegaly	HP:0002119
51750	RTEL1	Hypoplasia of the maxilla	HP:0000327
51750	RTEL1	Cerebral cortical atrophy	HP:0002120
51750	RTEL1	Pulmonary insufficiency	HP:0010444
51750	RTEL1	Neoplasm of the pancreas	HP:0002894
51750	RTEL1	Abnormal fingernail morphology	HP:0001231
51750	RTEL1	Hyperhidrosis	HP:0000975
51750	RTEL1	Splenomegaly	HP:0001744
51750	RTEL1	Thrombocytopenia	HP:0001873
51750	RTEL1	Esophageal stenosis	HP:0010450
51750	RTEL1	Cerebral calcification	HP:0002514
51750	RTEL1	Abnormality of neutrophils	HP:0001874
51750	RTEL1	Nail dystrophy	HP:0008404
51750	RTEL1	Urethral stenosis	HP:0008661
51750	RTEL1	Palmoplantar keratoderma	HP:0000982
51750	RTEL1	Honeycomb lung	HP:0025175
51750	RTEL1	Abnormality of the pharynx	HP:0000600
51750	RTEL1	Decreased antibody level in blood	HP:0004313
51750	RTEL1	Abnormal leukocyte morphology	HP:0001881
51750	RTEL1	Leukopenia	HP:0001882
51750	RTEL1	Scoliosis	HP:0002650
51750	RTEL1	Ground-glass opacification on pulmonary HRCT	HP:0025179
51750	RTEL1	Generalized hypopigmentation of hair	HP:0011358
51750	RTEL1	Excessive wrinkled skin	HP:0007392
51750	RTEL1	Intellectual disability	HP:0001249
51750	RTEL1	Short stature	HP:0004322
51750	RTEL1	Ataxia	HP:0001251
51750	RTEL1	Failure to thrive	HP:0001508
51750	RTEL1	Gastroesophageal reflux	HP:0002020
51750	RTEL1	White hair	HP:0011364
51750	RTEL1	Skin vesicle	HP:0200037
51750	RTEL1	Intrauterine growth retardation	HP:0001511
51750	RTEL1	Neoplasm	HP:0002664
51750	RTEL1	Malabsorption	HP:0002024
51750	RTEL1	Telangiectasia of the skin	HP:0100585
51750	RTEL1	Skin ulcer	HP:0200042
51750	RTEL1	Lymphoma	HP:0002665
51750	RTEL1	Hearing impairment	HP:0000365
51750	RTEL1	Dermal atrophy	HP:0004334
51750	RTEL1	Crackles	HP:0030830
51750	RTEL1	Global developmental delay	HP:0001263
51750	RTEL1	Anemia	HP:0001903
51750	RTEL1	Hyporeflexia	HP:0001265
51750	RTEL1	Blepharitis	HP:0000498
51750	RTEL1	Cirrhosis	HP:0001394
51750	RTEL1	Abnormal eyelash morphology	HP:0000499
51750	RTEL1	Variable expressivity	HP:0003828
51750	RTEL1	Incomplete penetrance	HP:0003829
51750	RTEL1	Hepatic failure	HP:0001399
51750	RTEL1	Microcephaly	HP:0000252
51750	RTEL1	Hypertonia	HP:0001276
51750	RTEL1	Adult onset	HP:0003581
51750	RTEL1	Cellular immunodeficiency	HP:0005374
51752	ERAP1	Abnormal blistering of the skin	HP:0008066
51752	ERAP1	Avascular necrosis	HP:0010885
51752	ERAP1	Cataract	HP:0000518
51752	ERAP1	Myositis	HP:0100614
51752	ERAP1	Meningitis	HP:0001287
51752	ERAP1	Gait disturbance	HP:0001288
51752	ERAP1	Confusion	HP:0001289
51752	ERAP1	Arthralgia	HP:0002829
51752	ERAP1	Vertigo	HP:0002321
51752	ERAP1	Gangrene	HP:0100758
51752	ERAP1	Fever	HP:0001945
51752	ERAP1	Pleural effusion	HP:0002202
51752	ERAP1	Oral ulcer	HP:0000155
51752	ERAP1	Lymphadenopathy	HP:0002716
51752	ERAP1	Pulmonary embolism	HP:0002204
51752	ERAP1	Migraine	HP:0002076
51752	ERAP1	Weight loss	HP:0001824
51752	ERAP1	Acne	HP:0001061
51752	ERAP1	Pericarditis	HP:0001701
51752	ERAP1	Cranial nerve paralysis	HP:0006824
51752	ERAP1	Retrobulbar optic neuritis	HP:0100654
51752	ERAP1	Memory impairment	HP:0002354
51752	ERAP1	Pleuritis	HP:0002102
51752	ERAP1	Hemoptysis	HP:0002105
51752	ERAP1	Orchitis	HP:0100796
51752	ERAP1	Gastrointestinal hemorrhage	HP:0002239
51752	ERAP1	Pulmonary infiltrates	HP:0002113
51752	ERAP1	Hyperreflexia	HP:0001347
51752	ERAP1	Arterial thrombosis	HP:0004420
51752	ERAP1	Pancreatitis	HP:0001733
51752	ERAP1	Venous thrombosis	HP:0004936
51752	ERAP1	Developmental regression	HP:0002376
51752	ERAP1	Vasculitis	HP:0002633
51752	ERAP1	Paresthesia	HP:0003401
51752	ERAP1	Keratoconjunctivitis sicca	HP:0001097
51752	ERAP1	Subcutaneous nodule	HP:0001482
51752	ERAP1	Cerebral ischemia	HP:0002637
51752	ERAP1	Encephalitis	HP:0002383
51752	ERAP1	Splenomegaly	HP:0001744
51752	ERAP1	Renal insufficiency	HP:0000083
51752	ERAP1	Increased intracranial pressure	HP:0002516
51752	ERAP1	Glomerulopathy	HP:0100820
51752	ERAP1	Abnormal pyramidal sign	HP:0007256
51752	ERAP1	Arthritis	HP:0001369
51752	ERAP1	Fatigue	HP:0012378
51752	ERAP1	Irritability	HP:0000737
51752	ERAP1	Nausea and vomiting	HP:0002017
51752	ERAP1	Papule	HP:0200034
51752	ERAP1	Seizures	HP:0001250
51752	ERAP1	Recurrent aphthous stomatitis	HP:0011107
51752	ERAP1	Ataxia	HP:0001251
51752	ERAP1	Abnormal myocardium morphology	HP:0001637
51752	ERAP1	Photophobia	HP:0000613
51752	ERAP1	Immunologic hypersensitivity	HP:0100326
51752	ERAP1	Malabsorption	HP:0002024
51752	ERAP1	Retinopathy	HP:0000488
51752	ERAP1	Endocarditis	HP:0100584
51752	ERAP1	Blindness	HP:0000618
51752	ERAP1	Abdominal pain	HP:0002027
51752	ERAP1	Mitral regurgitation	HP:0001653
51752	ERAP1	Hemiparesis	HP:0001269
51752	ERAP1	Anorexia	HP:0002039
51752	ERAP1	Myocardial infarction	HP:0001658
51752	ERAP1	Aortic regurgitation	HP:0001659
51752	ERAP1	Myalgia	HP:0003326
84522	JAGN1	Short stature	HP:0004322
84522	JAGN1	Recurrent otitis media	HP:0000403
84522	JAGN1	Neutropenia	HP:0001875
84522	JAGN1	Failure to thrive	HP:0001508
84522	JAGN1	Autosomal recessive inheritance	HP:0000007
84522	JAGN1	Recurrent respiratory infections	HP:0002205
84522	JAGN1	Recurrent bacterial infections	HP:0002718
27184	DISC2	Schizophrenia	HP:0100753
27184	DISC2	Heterogeneous	HP:0001425
27184	DISC2	EEG abnormality	HP:0002353
27184	DISC2	Hallucinations	HP:0000738
27184	DISC2	Negativism	HP:0410291
27184	DISC2	Autosomal dominant inheritance	HP:0000006
27184	DISC2	Delusions	HP:0000746
27184	DISC2	Social and occupational deterioration	HP:0007086
84529	C15ORF41	Hepatomegaly	HP:0002240
84529	C15ORF41	Small nail	HP:0001792
84529	C15ORF41	Short stature	HP:0004322
84529	C15ORF41	Reticulocytosis	HP:0001923
84529	C15ORF41	Erythroid hyperplasia	HP:0012132
84529	C15ORF41	Syndactyly	HP:0001159
84529	C15ORF41	Autosomal recessive inheritance	HP:0000007
84529	C15ORF41	Anisocytosis	HP:0011273
84529	C15ORF41	Splenomegaly	HP:0001744
84529	C15ORF41	Pallor	HP:0000980
84529	C15ORF41	Jaundice	HP:0000952
84529	C15ORF41	Anemia of inadequate production	HP:0010972
84529	C15ORF41	Poikilocytosis	HP:0004447
10801	SEPTIN9	EMG abnormality	HP:0003457
10801	SEPTIN9	Skeletal muscle atrophy	HP:0003202
10801	SEPTIN9	Facial asymmetry	HP:0000324
10801	SEPTIN9	Blepharophimosis	HP:0000581
10801	SEPTIN9	Autosomal dominant inheritance	HP:0000006
10801	SEPTIN9	Upslanted palpebral fissure	HP:0000582
10801	SEPTIN9	Paresthesia	HP:0003401
10801	SEPTIN9	Arthralgia	HP:0002829
10801	SEPTIN9	Axonal degeneration	HP:0040078
10801	SEPTIN9	Sprengel anomaly	HP:0000912
10801	SEPTIN9	Hypotelorism	HP:0000601
10801	SEPTIN9	Epicanthus	HP:0000286
10801	SEPTIN9	Narrow mouth	HP:0000160
10801	SEPTIN9	Depressed nasal bridge	HP:0005280
10801	SEPTIN9	Short stature	HP:0004322
10801	SEPTIN9	Peripheral neuropathy	HP:0009830
10801	SEPTIN9	Acrocyanosis	HP:0001063
10801	SEPTIN9	Deeply set eye	HP:0000490
10801	SEPTIN9	Scapular winging	HP:0003691
10801	SEPTIN9	Muscle weakness	HP:0001324
10801	SEPTIN9	Respiratory insufficiency	HP:0002093
10801	SEPTIN9	Cleft palate	HP:0000175
10801	SEPTIN9	Hyporeflexia	HP:0001265
10801	SEPTIN9	Low-set ears	HP:0000369
10801	SEPTIN9	Polyneuropathy	HP:0001271
10801	SEPTIN9	Neurological speech impairment	HP:0002167
10801	SEPTIN9	Round face	HP:0000311
10801	SEPTIN9	Sleep disturbance	HP:0002360
10801	SEPTIN9	Ptosis	HP:0000508
10801	SEPTIN9	Peripheral axonal degeneration	HP:0000764
10801	SEPTIN9	Brachial plexus neuropathy	HP:0045054
51761	ATP8A2	Intellectual disability	HP:0001249
51761	ATP8A2	Skeletal muscle atrophy	HP:0003202
51761	ATP8A2	Short stature	HP:0004322
51761	ATP8A2	Seizures	HP:0001250
51761	ATP8A2	Hyperreflexia	HP:0001347
51761	ATP8A2	Ataxia	HP:0001251
51761	ATP8A2	Muscular hypotonia	HP:0001252
51761	ATP8A2	Strabismus	HP:0000486
51761	ATP8A2	Cataract	HP:0000518
51761	ATP8A2	Autosomal recessive inheritance	HP:0000007
51761	ATP8A2	Gait disturbance	HP:0001288
51761	ATP8A2	Corpus callosum atrophy	HP:0007371
51761	ATP8A2	Cerebral atrophy	HP:0002059
51761	ATP8A2	Dysarthria	HP:0001260
51761	ATP8A2	Inability to walk	HP:0002540
51761	ATP8A2	Cerebral palsy	HP:0100021
51761	ATP8A2	Cerebellar atrophy	HP:0001272
51761	ATP8A2	Abnormality of vision	HP:0000504
51761	ATP8A2	Congenital onset	HP:0003577
51761	ATP8A2	Truncal ataxia	HP:0002078
51763	INPP5K	Pectus carinatum	HP:0000768
51763	INPP5K	Skeletal muscle atrophy	HP:0003202
51763	INPP5K	Areflexia	HP:0001284
51763	INPP5K	Brachydactyly	HP:0001156
51763	INPP5K	Cataract	HP:0000518
51763	INPP5K	Autosomal recessive inheritance	HP:0000007
51763	INPP5K	Hypogonadism	HP:0000135
51763	INPP5K	Optic atrophy	HP:0000648
51763	INPP5K	Generalized hypotonia	HP:0001290
51763	INPP5K	Hip dislocation	HP:0002827
51763	INPP5K	Abnormality of the metacarpal bones	HP:0001163
51763	INPP5K	Metatarsus valgus	HP:0010508
51763	INPP5K	Lower limb spasticity	HP:0002061
51763	INPP5K	Rigidity	HP:0002063
51763	INPP5K	Abnormality of finger	HP:0001167
51763	INPP5K	Abnormal circulating creatine kinase concentration	HP:0040081
51763	INPP5K	Toe walking	HP:0040083
51763	INPP5K	Abnormality of the cerebellar vermis	HP:0002334
51763	INPP5K	Elevated serum creatine kinase	HP:0003236
51763	INPP5K	Increased adipose tissue	HP:0009126
51763	INPP5K	Cerebellar hypoplasia	HP:0001321
51763	INPP5K	External genital hypoplasia	HP:0003241
51763	INPP5K	Respiratory insufficiency	HP:0002093
51763	INPP5K	Specific learning disability	HP:0001328
51763	INPP5K	Muscle flaccidity	HP:0010547
51763	INPP5K	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
51763	INPP5K	Dyskinesia	HP:0100660
51763	INPP5K	Severe short stature	HP:0003510
51763	INPP5K	Short palm	HP:0004279
51763	INPP5K	Gowers sign	HP:0003391
51763	INPP5K	Dysphonia	HP:0001618
51763	INPP5K	Scoliosis	HP:0002650
51763	INPP5K	Progressive	HP:0003676
51763	INPP5K	Muscle stiffness	HP:0003552
51763	INPP5K	Intellectual disability	HP:0001249
51763	INPP5K	Seizures	HP:0001250
51763	INPP5K	Short stature	HP:0004322
51763	INPP5K	Ataxia	HP:0001251
51763	INPP5K	Muscular hypotonia	HP:0001252
51763	INPP5K	Strabismus	HP:0000486
51763	INPP5K	Peripheral neuropathy	HP:0009830
51763	INPP5K	Muscular dystrophy	HP:0003560
51763	INPP5K	Spasticity	HP:0001257
51763	INPP5K	Hip dysplasia	HP:0001385
51763	INPP5K	Spinal rigidity	HP:0003306
51763	INPP5K	Hyperlordosis	HP:0003307
51763	INPP5K	Dysarthria	HP:0001260
51763	INPP5K	Global developmental delay	HP:0001263
51763	INPP5K	Avascular necrosis of the capital femoral epiphysis	HP:0005743
51763	INPP5K	Abnormal lactate dehydrogenase activity	HP:0045040
51763	INPP5K	Abnormal aldolase level	HP:0012400
51763	INPP5K	Hyporeflexia	HP:0001265
51763	INPP5K	Coxa valga	HP:0002673
51763	INPP5K	Motor delay	HP:0001270
51763	INPP5K	Microcephaly	HP:0000252
51763	INPP5K	Myopathy	HP:0003198
51763	INPP5K	Nystagmus	HP:0000639
10804	GJB6	Ichthyosis	HP:0008064
10804	GJB6	Small nail	HP:0001792
10804	GJB6	Urticaria	HP:0001025
10804	GJB6	Hyperconvex nail	HP:0001795
10804	GJB6	Sparse hair	HP:0008070
10804	GJB6	Cataract	HP:0000518
10804	GJB6	Autosomal dominant inheritance	HP:0000006
10804	GJB6	Autosomal recessive inheritance	HP:0000007
10804	GJB6	Hypoplastic toenails	HP:0001800
10804	GJB6	Hand polydactyly	HP:0001161
10804	GJB6	X-linked recessive inheritance	HP:0001419
10804	GJB6	Hypoplastic fingernail	HP:0001804
10804	GJB6	Onychogryposis	HP:0001805
10804	GJB6	Craniofacial hyperostosis	HP:0004493
10804	GJB6	Sparse eyelashes	HP:0000653
10804	GJB6	Onycholysis	HP:0001806
10804	GJB6	Fragile nails	HP:0001808
10804	GJB6	Generalized hyperpigmentation	HP:0007440
10804	GJB6	Progressive visual loss	HP:0000529
10804	GJB6	Dystrophic toenail	HP:0001810
10804	GJB6	Conductive hearing impairment	HP:0000405
10804	GJB6	Hemiplegia/hemiparesis	HP:0004374
10804	GJB6	Sensorineural hearing impairment	HP:0000407
10804	GJB6	Sparse and thin eyebrow	HP:0000535
10804	GJB6	Progressive sensorineural hearing impairment	HP:0000408
10804	GJB6	Clubbing of toes	HP:0100760
10804	GJB6	Cryptorchidism	HP:0000028
10804	GJB6	Recurrent bacterial skin infections	HP:0005406
10804	GJB6	Carious teeth	HP:0000670
10804	GJB6	Erythema	HP:0010783
10804	GJB6	Sparse scalp hair	HP:0002209
10804	GJB6	Abnormality of nail color	HP:0100643
10804	GJB6	Reduced tendon reflexes	HP:0001315
10804	GJB6	Abnormality of the dentition	HP:0000164
10804	GJB6	Fine hair	HP:0002213
10804	GJB6	Sparse axillary hair	HP:0002215
10804	GJB6	Adult onset sensorineural hearing impairment	HP:0008615
10804	GJB6	Cerebellar hypoplasia	HP:0001321
10804	GJB6	Slow-growing hair	HP:0002217
10804	GJB6	Delayed eruption of teeth	HP:0000684
10804	GJB6	Absent axillary hair	HP:0002221
10804	GJB6	Sparse pubic hair	HP:0002225
10804	GJB6	Oral leukoplakia	HP:0002745
10804	GJB6	Hyperpigmentation of the skin	HP:0000953
10804	GJB6	Alopecia	HP:0001596
10804	GJB6	Macule	HP:0012733
10804	GJB6	Delayed skeletal maturation	HP:0002750
10804	GJB6	Cognitive impairment	HP:0100543
10804	GJB6	Hypohidrosis	HP:0000966
10804	GJB6	Dystrophic fingernails	HP:0008391
10804	GJB6	Ectodermal dysplasia	HP:0000968
10804	GJB6	Aganglionic megacolon	HP:0002251
10804	GJB6	Palmoplantar hyperkeratosis	HP:0000972
10804	GJB6	Severe global developmental delay	HP:0011344
10804	GJB6	Squamous cell carcinoma of the skin	HP:0006739
10804	GJB6	Nail dystrophy	HP:0008404
10804	GJB6	Finger syndactyly	HP:0006101
10804	GJB6	Palmoplantar keratoderma	HP:0000982
10804	GJB6	Corneal erosion	HP:0200020
10804	GJB6	Vestibular dysfunction	HP:0001751
10804	GJB6	Arthritis	HP:0001369
10804	GJB6	Generalized hyperkeratosis	HP:0005595
10804	GJB6	Furrowed tongue	HP:0000221
10804	GJB6	Intellectual disability	HP:0001249
10804	GJB6	Short stature	HP:0004322
10804	GJB6	Photophobia	HP:0000613
10804	GJB6	Abnormal nasolacrimal system morphology	HP:0000614
10804	GJB6	Strabismus	HP:0000486
10804	GJB6	Corneal neovascularization	HP:0011496
10804	GJB6	Irregular hyperpigmentation	HP:0007400
10804	GJB6	Digenic inheritance	HP:0010984
10804	GJB6	Skin ulcer	HP:0200042
10804	GJB6	Aplasia/Hypoplasia of the eyebrow	HP:0100840
10804	GJB6	Dilatated internal auditory canal	HP:0004458
10804	GJB6	Keratitis	HP:0000491
10804	GJB6	Osteolysis	HP:0002797
10804	GJB6	Hearing impairment	HP:0000365
10804	GJB6	Hypotrichosis	HP:0001006
10804	GJB6	Blepharitis	HP:0000498
10804	GJB6	Abnormal eyelash morphology	HP:0000499
10804	GJB6	Variable expressivity	HP:0003828
10804	GJB6	Nail dysplasia	HP:0002164
10804	GJB6	Alopecia totalis	HP:0007418
10804	GJB6	Brittle hair	HP:0002299
10804	GJB6	Absent pubic hair	HP:0002555
10804	GJB6	Conjunctivitis	HP:0000509
10804	GJB6	Stapes ankylosis	HP:0000381
133686	NADK2	Pancreatitis	HP:0001733
133686	NADK2	Decreased activity of NADPH oxidase	HP:0003206
133686	NADK2	Autosomal recessive inheritance	HP:0000007
133686	NADK2	Ventriculomegaly	HP:0002119
133686	NADK2	Organic aciduria	HP:0001992
133686	NADK2	Cerebral atrophy	HP:0002059
133686	NADK2	Tetraplegia	HP:0002445
133686	NADK2	Abnormal basal ganglia MRI signal intensity	HP:0012751
133686	NADK2	Progressive encephalopathy	HP:0002448
133686	NADK2	Encephalopathy	HP:0001298
133686	NADK2	Renal tubular acidosis	HP:0001947
133686	NADK2	Hypoplasia of the corpus callosum	HP:0002079
133686	NADK2	Cerebral visual impairment	HP:0100704
133686	NADK2	Stress/infection-induced lactic acidosis	HP:0004897
133686	NADK2	Seizures	HP:0001250
133686	NADK2	Decreased plasma carnitine	HP:0003234
133686	NADK2	Failure to thrive	HP:0001508
133686	NADK2	Nonprogressive cerebellar ataxia	HP:0002470
133686	NADK2	Neonatal hypotonia	HP:0001319
133686	NADK2	Central sleep apnea	HP:0010536
133686	NADK2	Spasticity	HP:0001257
133686	NADK2	Progressive spastic quadriplegia	HP:0002478
133686	NADK2	Leukodystrophy	HP:0002415
133686	NADK2	Global developmental delay	HP:0001263
133686	NADK2	Aspiration pneumonia	HP:0011951
133686	NADK2	Hyperlysinemia	HP:0002161
133686	NADK2	Choreoathetosis	HP:0001266
133686	NADK2	Death in infancy	HP:0001522
133686	NADK2	Dystonia	HP:0001332
133686	NADK2	Cerebellar atrophy	HP:0001272
133686	NADK2	Decreased plasma free carnitine	HP:0008315
133686	NADK2	Microcephaly	HP:0000252
133686	NADK2	Nystagmus	HP:0000639
10806	SDCCAG8	Abnormal electroretinogram	HP:0000512
10806	SDCCAG8	Skeletal muscle atrophy	HP:0003202
10806	SDCCAG8	Multicystic kidney dysplasia	HP:0000003
10806	SDCCAG8	Cataract	HP:0000518
10806	SDCCAG8	Autosomal recessive inheritance	HP:0000007
10806	SDCCAG8	Hypogonadism	HP:0000135
10806	SDCCAG8	Postaxial hand polydactyly	HP:0001162
10806	SDCCAG8	Premature ovarian insufficiency	HP:0008209
10806	SDCCAG8	Progressive visual loss	HP:0000529
10806	SDCCAG8	Recurrent otitis media	HP:0000403
10806	SDCCAG8	Hypoplasia of the ovary	HP:0008724
10806	SDCCAG8	Abnormality of retinal pigmentation	HP:0007703
10806	SDCCAG8	Cryptorchidism	HP:0000028
10806	SDCCAG8	Hypoplasia of penis	HP:0008736
10806	SDCCAG8	Retinal degeneration	HP:0000546
10806	SDCCAG8	External genital hypoplasia	HP:0003241
10806	SDCCAG8	Prominent nasal bridge	HP:0000426
10806	SDCCAG8	Retinal dystrophy	HP:0000556
10806	SDCCAG8	Bronchiolitis	HP:0011950
10806	SDCCAG8	Respiratory distress	HP:0002098
10806	SDCCAG8	Congenital hepatic fibrosis	HP:0002612
10806	SDCCAG8	Hypertension	HP:0000822
10806	SDCCAG8	Generalized hirsutism	HP:0002230
10806	SDCCAG8	Cognitive impairment	HP:0100543
10806	SDCCAG8	Stage 5 chronic kidney disease	HP:0003774
10806	SDCCAG8	Pigmentary retinopathy	HP:0000580
10806	SDCCAG8	Renal insufficiency	HP:0000083
10806	SDCCAG8	Cone-shaped epiphysis	HP:0010579
10806	SDCCAG8	Finger syndactyly	HP:0006101
10806	SDCCAG8	Short neck	HP:0000470
10806	SDCCAG8	Nephronophthisis	HP:0000090
10806	SDCCAG8	Intellectual disability	HP:0001249
10806	SDCCAG8	Short stature	HP:0004322
10806	SDCCAG8	Ataxia	HP:0001251
10806	SDCCAG8	Nephrotic syndrome	HP:0000100
10806	SDCCAG8	Renal agenesis	HP:0000104
10806	SDCCAG8	Obesity	HP:0001513
10806	SDCCAG8	Renal cyst	HP:0000107
10806	SDCCAG8	Hearing impairment	HP:0000365
10806	SDCCAG8	Renal dysplasia	HP:0000110
10806	SDCCAG8	Downslanted palpebral fissures	HP:0000494
10806	SDCCAG8	Global developmental delay	HP:0001263
10806	SDCCAG8	Low-set, posteriorly rotated ears	HP:0000368
10806	SDCCAG8	Hepatic fibrosis	HP:0001395
10806	SDCCAG8	Neurological speech impairment	HP:0002167
10806	SDCCAG8	Medial flaring of the eyebrow	HP:0010747
10806	SDCCAG8	Abnormality of bone mineral density	HP:0004348
10806	SDCCAG8	Rod-cone dystrophy	HP:0000510
10806	SDCCAG8	Nystagmus	HP:0000639
199221	DZIP1L	Renal hypoplasia/aplasia	HP:0008678
199221	DZIP1L	Pancreatic cysts	HP:0001737
199221	DZIP1L	Depressed nasal ridge	HP:0000457
199221	DZIP1L	Respiratory insufficiency	HP:0002093
199221	DZIP1L	Hyperechogenic kidneys	HP:0004719
199221	DZIP1L	Macrotia	HP:0000400
199221	DZIP1L	Low-set, posteriorly rotated ears	HP:0000368
199221	DZIP1L	Hypoplasia of the ear cartilage	HP:0100720
199221	DZIP1L	Polycystic kidney dysplasia	HP:0000113
199221	DZIP1L	Renal insufficiency	HP:0000083
199221	DZIP1L	Congenital hepatic fibrosis	HP:0002612
199221	DZIP1L	Variable expressivity	HP:0003828
199221	DZIP1L	Biliary tract abnormality	HP:0001080
199221	DZIP1L	Multiple renal cysts	HP:0005562
199221	DZIP1L	Micrognathia	HP:0000347
199221	DZIP1L	Slow progression	HP:0003677
199221	DZIP1L	Stage 5 chronic kidney disease	HP:0003774
199221	DZIP1L	Hepatic cysts	HP:0001407
2617	GARS	First dorsal interossei muscle weakness	HP:0003392
2617	GARS	Thenar muscle atrophy	HP:0003393
2617	GARS	Abnormal motor nerve conduction velocity	HP:0040131
2617	GARS	Hyperreflexia	HP:0001347
2617	GARS	Autosomal dominant inheritance	HP:0000006
2617	GARS	Motor polyneuropathy	HP:0007178
2617	GARS	Unsteady gait	HP:0002317
2617	GARS	Pes valgus	HP:0008081
2617	GARS	Scoliosis	HP:0002650
2617	GARS	Onset	HP:0003674
2617	GARS	Upper limb muscle weakness	HP:0003484
2617	GARS	Distal muscle weakness	HP:0002460
2617	GARS	Distal lower limb muscle weakness	HP:0009053
2617	GARS	Slow progression	HP:0003677
2617	GARS	Pes cavus	HP:0001761
2617	GARS	First dorsal interossei muscle atrophy	HP:0003426
2617	GARS	Thenar muscle weakness	HP:0003427
2617	GARS	Pes planus	HP:0001763
2617	GARS	Hammertoe	HP:0001765
2617	GARS	Peripheral neuropathy	HP:0009830
2617	GARS	Upper limb amyotrophy	HP:0009129
2617	GARS	Cold-induced hand cramps	HP:0003435
2617	GARS	Distal amyotrophy	HP:0003693
2617	GARS	Hyporeflexia	HP:0001265
2617	GARS	Distal sensory impairment	HP:0002936
2617	GARS	Postural instability	HP:0002172
2617	GARS	Impaired vibratory sensation	HP:0002495
2619	GAS1	Short philtrum	HP:0000322
2619	GAS1	EMG: myopathic abnormalities	HP:0003458
2619	GAS1	Hemangioma	HP:0001028
2619	GAS1	Choanal atresia	HP:0000453
2619	GAS1	Duodenal atresia	HP:0002247
2619	GAS1	Maternal diabetes	HP:0009800
2619	GAS1	Anteverted nares	HP:0000463
2619	GAS1	Holoprosencephaly	HP:0001360
2619	GAS1	Midnasal stenosis	HP:0010644
2619	GAS1	Premature birth	HP:0001622
2619	GAS1	Hypotelorism	HP:0000601
2619	GAS1	Scoliosis	HP:0002650
2619	GAS1	Hypoplasia of penis	HP:0008736
2619	GAS1	Intellectual disability	HP:0001249
2619	GAS1	Short stature	HP:0004322
2619	GAS1	Seizures	HP:0001250
2619	GAS1	Iris coloboma	HP:0000612
2619	GAS1	Tetralogy of Fallot	HP:0001636
2619	GAS1	Strabismus	HP:0000486
2619	GAS1	Panhypopituitarism	HP:0000871
2619	GAS1	Intrauterine growth retardation	HP:0001511
2619	GAS1	Renal agenesis	HP:0000104
2619	GAS1	Single median maxillary incisor	HP:0006315
2619	GAS1	Cleft palate	HP:0000175
2619	GAS1	Asthma	HP:0002099
2619	GAS1	Tented upper lip vermilion	HP:0010804
2619	GAS1	Hypothyroidism	HP:0000821
2619	GAS1	Cyclopia	HP:0009914
2619	GAS1	Agenesis of corpus callosum	HP:0001274
2619	GAS1	Short nose	HP:0003196
2619	GAS1	Microcephaly	HP:0000252
2619	GAS1	Narrow nasal bridge	HP:0000446
2619	GAS1	Ambiguous genitalia	HP:0000062
2622	GAS8	Chronic rhinitis	HP:0002257
2622	GAS8	Recurrent otitis media	HP:0000403
2622	GAS8	Recurrent pneumonia	HP:0006532
2622	GAS8	Recurrent bronchitis	HP:0002837
2622	GAS8	Conductive hearing impairment	HP:0000405
2622	GAS8	Autosomal recessive inheritance	HP:0000007
2622	GAS8	Ciliary dyskinesia	HP:0012265
2622	GAS8	Recurrent respiratory infections	HP:0002205
2622	GAS8	Bronchiectasis	HP:0002110
2622	GAS8	Cough	HP:0012735
2622	GAS8	Atelectasis	HP:0100750
2623	GATA1	Duodenal stenosis	HP:0100867
2623	GATA1	Infantile onset	HP:0003593
2623	GATA1	Anisocytosis	HP:0011273
2623	GATA1	Malar flattening	HP:0000272
2623	GATA1	Migraine	HP:0002076
2623	GATA1	Cryptorchidism	HP:0000028
2623	GATA1	Epicanthus	HP:0000286
2623	GATA1	Recurrent skin infections	HP:0001581
2623	GATA1	Thickened skin	HP:0001072
2623	GATA1	Hypoplastic iliac wing	HP:0002866
2623	GATA1	Hypothyroidism	HP:0000821
2623	GATA1	Abnormal urinary color	HP:0012086
2623	GATA1	Delayed puberty	HP:0000823
2623	GATA1	Protruding tongue	HP:0010808
2623	GATA1	Brushfield spots	HP:0001088
2623	GATA1	Upslanted palpebral fissure	HP:0000582
2623	GATA1	Keratoconjunctivitis	HP:0001096
2623	GATA1	Acute megakaryocytic leukemia	HP:0006733
2623	GATA1	Abnormality of the genital system	HP:0000078
2623	GATA1	Abnormality of the urinary system	HP:0000079
2623	GATA1	Flat face	HP:0012368
2623	GATA1	Thrombocytopenia	HP:0001873
2623	GATA1	Neutropenia	HP:0001875
2623	GATA1	Hemolytic anemia	HP:0001878
2623	GATA1	Fatigue	HP:0012378
2623	GATA1	Elliptocytosis	HP:0004445
2623	GATA1	Abnormal platelet function	HP:0011869
2623	GATA1	Poikilocytosis	HP:0004447
2623	GATA1	Abnormal platelet morphology	HP:0011875
2623	GATA1	Abnormal bleeding	HP:0001892
2623	GATA1	Microtia	HP:0008551
2623	GATA1	Abnormal granulocytopoietic cell morphology	HP:0012135
2623	GATA1	Joint laxity	HP:0001388
2623	GATA1	Increased hemoglobin	HP:0001900
2623	GATA1	Shallow acetabular fossae	HP:0003182
2623	GATA1	Abnormal megakaryocyte morphology	HP:0012143
2623	GATA1	Anemia	HP:0001903
2623	GATA1	Abnormality of multiple cell lineages in the bone marrow	HP:0012145
2623	GATA1	Congenital thrombocytopenia	HP:0001905
2623	GATA1	Short middle phalanx of the 5th finger	HP:0004220
2623	GATA1	Short nose	HP:0003196
2623	GATA1	Abnormal hemoglobin	HP:0011902
2623	GATA1	Abnormal blistering of the skin	HP:0008066
2623	GATA1	Abnormality of the hand	HP:0001155
2623	GATA1	Reticulocytosis	HP:0001923
2623	GATA1	Acanthocytosis	HP:0001927
2623	GATA1	Complete atrioventricular canal defect	HP:0001674
2623	GATA1	Atlantoaxial instability	HP:0003467
2623	GATA1	X-linked recessive inheritance	HP:0001419
2623	GATA1	Hypochromic anemia	HP:0001931
2623	GATA1	Persistent bleeding after trauma	HP:0001934
2623	GATA1	Ectropion	HP:0000656
2623	GATA1	Broad palm	HP:0001169
2623	GATA1	Conductive hearing impairment	HP:0000405
2623	GATA1	Arrhythmia	HP:0011675
2623	GATA1	Macroglossia	HP:0000158
2623	GATA1	Sporadic	HP:0003745
2623	GATA1	Immunodeficiency	HP:0002721
2623	GATA1	Epistaxis	HP:0000421
2623	GATA1	Osteopenia	HP:0000938
2623	GATA1	Myeloproliferative disorder	HP:0005547
2623	GATA1	Cleft palate	HP:0000175
2623	GATA1	Thick lower lip vermilion	HP:0000179
2623	GATA1	Macrocytic anemia	HP:0001972
2623	GATA1	Short palm	HP:0004279
2623	GATA1	Acute leukemia	HP:0002488
2623	GATA1	Single transverse palmar crease	HP:0000954
2623	GATA1	Prolonged bleeding time	HP:0003010
2623	GATA1	Recurrent fractures	HP:0002757
2623	GATA1	Petechiae	HP:0000967
2623	GATA1	Depressed nasal ridge	HP:0000457
2623	GATA1	Aganglionic megacolon	HP:0002251
2623	GATA1	Alzheimer disease	HP:0002511
2623	GATA1	Splenomegaly	HP:0001744
2623	GATA1	Bruising susceptibility	HP:0000978
2623	GATA1	Impaired platelet aggregation	HP:0003540
2623	GATA1	Pallor	HP:0000980
2623	GATA1	Abnormality of reticulocytes	HP:0004312
2623	GATA1	Thickened nuchal skin fold	HP:0000474
2623	GATA1	Atypical scarring of skin	HP:0000987
2623	GATA1	Anemia of inadequate production	HP:0010972
2623	GATA1	Abnormality of the foot	HP:0001760
2623	GATA1	Cutaneous photosensitivity	HP:0000992
2623	GATA1	Intellectual disability	HP:0001249
2623	GATA1	Short stature	HP:0004322
2623	GATA1	Muscular hypotonia	HP:0001252
2623	GATA1	Hypertrichosis	HP:0000998
2623	GATA1	Anal atresia	HP:0002023
2623	GATA1	Abnormality of skin pigmentation	HP:0001000
2623	GATA1	Abnormal circulating porphyrin concentration	HP:0010472
2623	GATA1	Recurrent corneal erosions	HP:0000495
2623	GATA1	Hirsutism	HP:0001007
2623	GATA1	Abnormal lactate dehydrogenase activity	HP:0045040
2623	GATA1	Blepharitis	HP:0000498
2623	GATA1	Variable expressivity	HP:0003828
2623	GATA1	Brachycephaly	HP:0000248
2623	GATA1	Macrothrombocytopenia	HP:0040185
2623	GATA1	Nonimmune hydrops fetalis	HP:0001790
10815	CPLX1	Hemangioma	HP:0001028
10815	CPLX1	Autosomal dominant inheritance	HP:0000006
10815	CPLX1	Proptosis	HP:0000520
10815	CPLX1	Prominent glabella	HP:0002057
10815	CPLX1	Generalized hypotonia	HP:0001290
10815	CPLX1	Hip dislocation	HP:0002827
10815	CPLX1	Hyperconvex fingernails	HP:0001812
10815	CPLX1	Decreased fetal movement	HP:0001558
10815	CPLX1	Midface retrusion	HP:0011800
10815	CPLX1	Cryptorchidism	HP:0000028
10815	CPLX1	Epicanthus	HP:0000286
10815	CPLX1	Photosensitive tonic-clonic seizures	HP:0007207
10815	CPLX1	EEG with irregular generalized spike and wave complexes	HP:0001326
10815	CPLX1	Rieger anomaly	HP:0000558
10815	CPLX1	Hypospadias	HP:0000047
10815	CPLX1	Metatarsus adductus	HP:0001840
10815	CPLX1	EEG abnormality	HP:0002353
10815	CPLX1	Preaxial foot polydactyly	HP:0001841
10815	CPLX1	Short thumb	HP:0009778
10815	CPLX1	Absent septum pellucidum	HP:0001331
10815	CPLX1	Myoclonus	HP:0001336
10815	CPLX1	Biliary tract abnormality	HP:0001080
10815	CPLX1	Precocious puberty	HP:0000826
10815	CPLX1	Hypertelorism	HP:0000316
10815	CPLX1	Absent speech	HP:0001344
10815	CPLX1	Short philtrum	HP:0000322
10815	CPLX1	Febrile seizures	HP:0002373
10815	CPLX1	Ventriculomegaly	HP:0002119
10815	CPLX1	Developmental regression	HP:0002376
10815	CPLX1	Cerebral cortical atrophy	HP:0002120
10815	CPLX1	Absence seizure	HP:0002121
10815	CPLX1	Generalized myoclonic seizures	HP:0002123
10815	CPLX1	Cavum septum pellucidum	HP:0002389
10815	CPLX1	Abnormal sternal ossification	HP:0011863
10815	CPLX1	Long philtrum	HP:0000343
10815	CPLX1	Leber optic atrophy	HP:0001112
10815	CPLX1	Scoliosis	HP:0002650
10815	CPLX1	Micrognathia	HP:0000347
10815	CPLX1	High forehead	HP:0000348
10815	CPLX1	Ventricular septal defect	HP:0001629
10815	CPLX1	Atrial septal defect	HP:0001631
10815	CPLX1	Tethered cord	HP:0002144
10815	CPLX1	Iris coloboma	HP:0000612
10815	CPLX1	Hip dysplasia	HP:0001385
10815	CPLX1	Attention deficit hyperactivity disorder	HP:0007018
10815	CPLX1	Delayed fine motor development	HP:0010862
10815	CPLX1	Intellectual disability, severe	HP:0010864
10815	CPLX1	Low posterior hairline	HP:0002162
10815	CPLX1	Preauricular pit	HP:0004467
10815	CPLX1	Abnormality of the pinna	HP:0000377
10815	CPLX1	Short hallux	HP:0010109
10815	CPLX1	Nystagmus	HP:0000639
10815	CPLX1	Decreased muscle mass	HP:0003199
10815	CPLX1	Preauricular skin tag	HP:0000384
10815	CPLX1	Craniofacial asymmetry	HP:0004484
10815	CPLX1	Vertebral fusion	HP:0002948
10815	CPLX1	Rib fusion	HP:0000902
10815	CPLX1	Severe postnatal growth retardation	HP:0008850
10815	CPLX1	Stenosis of the external auditory canal	HP:0000402
10815	CPLX1	Split hand	HP:0001171
10815	CPLX1	Conductive hearing impairment	HP:0000405
10815	CPLX1	Aplasia of the uterus	HP:0000151
10815	CPLX1	Sensorineural hearing impairment	HP:0000407
10815	CPLX1	Preaxial hand polydactyly	HP:0001177
10815	CPLX1	Downturned corners of mouth	HP:0002714
10815	CPLX1	Hypodontia	HP:0000668
10815	CPLX1	Radioulnar synostosis	HP:0002974
10815	CPLX1	Language impairment	HP:0002463
10815	CPLX1	Sporadic	HP:0003745
10815	CPLX1	Immunodeficiency	HP:0002721
10815	CPLX1	Wide nasal bridge	HP:0000431
10815	CPLX1	Cleft palate	HP:0000175
10815	CPLX1	Single transverse palmar crease	HP:0000954
10815	CPLX1	Malrotation of small bowel	HP:0004794
10815	CPLX1	Short upper lip	HP:0000188
10815	CPLX1	Convex nasal ridge	HP:0000444
10815	CPLX1	Ectopia pupillae	HP:0009918
10815	CPLX1	Delayed skeletal maturation	HP:0002750
10815	CPLX1	Sacral dimple	HP:0000960
10815	CPLX1	Delayed ability to walk	HP:0031936
10815	CPLX1	Periventricular cysts	HP:0007109
10815	CPLX1	Epileptic encephalopathy	HP:0200134
10815	CPLX1	Cleft upper lip	HP:0000204
10815	CPLX1	Aggressive behavior	HP:0000718
10815	CPLX1	Abnormal facial shape	HP:0001999
10815	CPLX1	Webbed neck	HP:0000465
10815	CPLX1	Accessory spleen	HP:0001747
10815	CPLX1	Aplasia cutis congenita of scalp	HP:0007385
10815	CPLX1	Stereotypy	HP:0000733
10815	CPLX1	Irritability	HP:0000737
10815	CPLX1	Intellectual disability	HP:0001249
10815	CPLX1	Seizures	HP:0001250
10815	CPLX1	Talipes equinovarus	HP:0001762
10815	CPLX1	Short stature	HP:0004322
10815	CPLX1	Failure to thrive	HP:0001508
10815	CPLX1	Gastroesophageal reflux	HP:0002020
10815	CPLX1	Strabismus	HP:0000486
10815	CPLX1	Intrauterine growth retardation	HP:0001511
10815	CPLX1	Intellectual disability, mild	HP:0001256
10815	CPLX1	Pseudoepiphyses of the metacarpals	HP:0009193
10815	CPLX1	Dysarthria	HP:0001260
10815	CPLX1	Inability to walk	HP:0002540
10815	CPLX1	Hydrocephalus	HP:0000238
10815	CPLX1	Small for gestational age	HP:0001518
10815	CPLX1	Global developmental delay	HP:0001263
10815	CPLX1	Abnormal form of the vertebral bodies	HP:0003312
10815	CPLX1	Mental deterioration	HP:0001268
10815	CPLX1	Kyphosis	HP:0002808
10815	CPLX1	Highly arched eyebrow	HP:0002553
10815	CPLX1	Agenesis of corpus callosum	HP:0001274
10815	CPLX1	Ptosis	HP:0000508
10815	CPLX1	Microcephaly	HP:0000252
10815	CPLX1	Rib segmentation abnormalities	HP:0006655
2624	GATA2	Hepatomegaly	HP:0002240
2624	GATA2	Prolonged bleeding time	HP:0003010
2624	GATA2	Chronic otitis media	HP:0000389
2624	GATA2	Autosomal dominant inheritance	HP:0000006
2624	GATA2	Recurrent mycobacterium avium complex infections	HP:0011275
2624	GATA2	Abnormality of the optic nerve	HP:0000587
2624	GATA2	Recurrent viral infections	HP:0004429
2624	GATA2	Abnormal natural killer cell morphology	HP:0012176
2624	GATA2	Splenomegaly	HP:0001744
2624	GATA2	Vertigo	HP:0002321
2624	GATA2	Thrombocytopenia	HP:0001873
2624	GATA2	Webbed neck	HP:0000465
2624	GATA2	Bruising susceptibility	HP:0000978
2624	GATA2	Neutropenia	HP:0001875
2624	GATA2	Pallor	HP:0000980
2624	GATA2	Pancytopenia	HP:0001876
2624	GATA2	Sensorineural hearing impairment	HP:0000407
2624	GATA2	Abnormal neutrophil count	HP:0011991
2624	GATA2	Monocytopenia	HP:0012312
2624	GATA2	Bone marrow hypocellularity	HP:0005528
2624	GATA2	Recurrent fungal infections	HP:0002841
2624	GATA2	Fever	HP:0001945
2624	GATA2	Hypotelorism	HP:0000601
2624	GATA2	Fatigue	HP:0012378
2624	GATA2	Migraine	HP:0002076
2624	GATA2	Lymphadenopathy	HP:0002716
2624	GATA2	Recurrent respiratory infections	HP:0002205
2624	GATA2	Epicanthus	HP:0000286
2624	GATA2	Tapered finger	HP:0001182
2624	GATA2	Lymphopenia	HP:0001888
2624	GATA2	Weight loss	HP:0001824
2624	GATA2	Immunodeficiency	HP:0002721
2624	GATA2	Nausea and vomiting	HP:0002017
2624	GATA2	Myeloid leukemia	HP:0012324
2624	GATA2	Myeloproliferative disorder	HP:0005547
2624	GATA2	Lymphedema	HP:0001004
2624	GATA2	Myelodysplasia	HP:0002863
2624	GATA2	Cellulitis	HP:0100658
2624	GATA2	Hypercoagulability	HP:0100724
2624	GATA2	Leukocytosis	HP:0001974
2624	GATA2	Neurological speech impairment	HP:0002167
2624	GATA2	Acute leukemia	HP:0002488
2624	GATA2	Intracranial hemorrhage	HP:0002170
2624	GATA2	Aplastic anemia	HP:0001915
2624	GATA2	Visual loss	HP:0000572
2624	GATA2	Respiratory failure	HP:0002878
51776	MAP3K20	Skeletal muscle atrophy	HP:0003202
51776	MAP3K20	EMG: myopathic abnormalities	HP:0003458
51776	MAP3K20	Autosomal recessive inheritance	HP:0000007
51776	MAP3K20	Generalized hypotonia	HP:0001290
51776	MAP3K20	Long face	HP:0000276
51776	MAP3K20	Calf muscle hypertrophy	HP:0008981
51776	MAP3K20	Decreased fetal movement	HP:0001558
51776	MAP3K20	Sensorineural hearing impairment	HP:0000407
51776	MAP3K20	Polyhydramnios	HP:0001561
51776	MAP3K20	Distal muscle weakness	HP:0002460
51776	MAP3K20	Cryptorchidism	HP:0000028
51776	MAP3K20	Recurrent respiratory infections	HP:0002205
51776	MAP3K20	Type 1 muscle fiber atrophy	HP:0011807
51776	MAP3K20	Reduced tendon reflexes	HP:0001315
51776	MAP3K20	Pulmonary hypoplasia	HP:0002089
51776	MAP3K20	Elbow flexion contracture	HP:0002987
51776	MAP3K20	Tented upper lip vermilion	HP:0010804
51776	MAP3K20	Cutaneous syndactyly	HP:0012725
51776	MAP3K20	Respiratory insufficiency due to muscle weakness	HP:0002747
51776	MAP3K20	Easy fatigability	HP:0003388
51776	MAP3K20	Kyphoscoliosis	HP:0002751
51776	MAP3K20	Increased connective tissue	HP:0009025
51776	MAP3K20	Muscle spasm	HP:0003394
51776	MAP3K20	Ankle contracture	HP:0006466
51776	MAP3K20	Hip contracture	HP:0003273
51776	MAP3K20	Weak cry	HP:0001612
51776	MAP3K20	Waddling gait	HP:0002515
51776	MAP3K20	Scoliosis	HP:0002650
51776	MAP3K20	Ophthalmoplegia	HP:0000602
51776	MAP3K20	High palate	HP:0000218
51776	MAP3K20	Micrognathia	HP:0000347
51776	MAP3K20	Slow progression	HP:0003677
51776	MAP3K20	Rimmed vacuoles	HP:0003805
51776	MAP3K20	Congenital hip dislocation	HP:0001374
51776	MAP3K20	Intellectual disability	HP:0001249
51776	MAP3K20	Short stature	HP:0004322
51776	MAP3K20	Talipes equinovarus	HP:0001762
51776	MAP3K20	Failure to thrive	HP:0001508
51776	MAP3K20	Muscular hypotonia	HP:0001252
51776	MAP3K20	Reduced vital capacity	HP:0002792
51776	MAP3K20	Hyperlordosis	HP:0003307
51776	MAP3K20	Scapular winging	HP:0003691
51776	MAP3K20	Knee flexion contracture	HP:0006380
51776	MAP3K20	Joint laxity	HP:0001388
51776	MAP3K20	Dilated cardiomyopathy	HP:0001644
51776	MAP3K20	Fatigable weakness of bulbar muscles	HP:0030192
51776	MAP3K20	Poor suck	HP:0002033
51776	MAP3K20	Flexion contracture of finger	HP:0012785
51776	MAP3K20	Mildly elevated creatine kinase	HP:0008180
51776	MAP3K20	Proximal muscle weakness	HP:0003701
51776	MAP3K20	Motor delay	HP:0001270
51776	MAP3K20	Ptosis	HP:0000508
51776	MAP3K20	Generalized muscle weakness	HP:0003324
51776	MAP3K20	Pectus excavatum	HP:0000767
2625	GATA3	Abnormality of T cell physiology	HP:0011840
2625	GATA3	Septate vagina	HP:0001153
2625	GATA3	Proximal renal tubular acidosis	HP:0002049
2625	GATA3	Autosomal dominant inheritance	HP:0000006
2625	GATA3	Vesicoureteral reflux	HP:0000076
2625	GATA3	Chronic kidney disease	HP:0012622
2625	GATA3	Severe postnatal growth retardation	HP:0008850
2625	GATA3	Renal insufficiency	HP:0000083
2625	GATA3	Vaginal atresia	HP:0000148
2625	GATA3	Distal renal tubular acidosis	HP:0008341
2625	GATA3	Hematuria	HP:0000790
2625	GATA3	Aplasia of the uterus	HP:0000151
2625	GATA3	Hypocalcemic seizures	HP:0002199
2625	GATA3	Sensorineural hearing impairment	HP:0000407
2625	GATA3	Progressive sensorineural hearing impairment	HP:0000408
2625	GATA3	Abnormal heart morphology	HP:0001627
2625	GATA3	Parathyroid hypoplasia	HP:0000860
2625	GATA3	Proteinuria	HP:0000093
2625	GATA3	Nephrotic syndrome	HP:0000100
2625	GATA3	Renal dysplasia	HP:0000110
2625	GATA3	Cleft palate	HP:0000175
2625	GATA3	Polycystic kidney dysplasia	HP:0000113
2625	GATA3	Uterus didelphys	HP:0003762
2625	GATA3	Thickening of the glomerular basement membrane	HP:0004722
2625	GATA3	Diabetes mellitus	HP:0000819
2625	GATA3	Psoriasiform dermatitis	HP:0003765
2625	GATA3	Nephrocalcinosis	HP:0000121
2625	GATA3	Unilateral renal agenesis	HP:0000122
2625	GATA3	Hypoparathyroidism	HP:0000829
2625	GATA3	Rod-cone dystrophy	HP:0000510
2625	GATA3	Hydronephrosis	HP:0000126
2626	GATA4	Primary gonadal insufficiency	HP:0008193
2626	GATA4	Gynecomastia	HP:0000771
2626	GATA4	Autosomal dominant inheritance	HP:0000006
2626	GATA4	Proptosis	HP:0000520
2626	GATA4	Congenital diaphragmatic hernia	HP:0000776
2626	GATA4	Testicular dysgenesis	HP:0008715
2626	GATA4	Dolichocephaly	HP:0000268
2626	GATA4	Enlarged thorax	HP:0100625
2626	GATA4	Primary amenorrhea	HP:0000786
2626	GATA4	Hypoplasia of the vagina	HP:0008726
2626	GATA4	Decreased serum estradiol	HP:0008214
2626	GATA4	Female external genitalia in individual with 46,XY karyotype	HP:0008730
2626	GATA4	Azoospermia	HP:0000027
2626	GATA4	Cryptorchidism	HP:0000028
2626	GATA4	Decreased testicular size	HP:0008734
2626	GATA4	Testicular gonadoblastoma	HP:0000030
2626	GATA4	Epicanthus	HP:0000286
2626	GATA4	Hypoplastic left heart	HP:0004383
2626	GATA4	Weight loss	HP:0001824
2626	GATA4	Full cheeks	HP:0000293
2626	GATA4	Atrioventricular canal defect	HP:0006695
2626	GATA4	Elevated circulating follicle stimulating hormone level	HP:0008232
2626	GATA4	Broad thumb	HP:0011304
2626	GATA4	Abnormality of the scrotum	HP:0000045
2626	GATA4	Hypospadias	HP:0000047
2626	GATA4	Hypergonadotropic hypogonadism	HP:0000815
2626	GATA4	Perineal hypospadias	HP:0000051
2626	GATA4	Microphallus	HP:0030260
2626	GATA4	Micropenis	HP:0000054
2626	GATA4	Delayed puberty	HP:0000823
2626	GATA4	Abnormality of the labia	HP:0000058
2626	GATA4	Ambiguous genitalia	HP:0000062
2626	GATA4	Pulmonary artery stenosis	HP:0004415
2626	GATA4	Vanishing testis	HP:0012870
2626	GATA4	Biparietal narrowing	HP:0004422
2626	GATA4	Upslanted palpebral fissure	HP:0000582
2626	GATA4	Broad hallux phalanx	HP:0010059
2626	GATA4	Adrenal insufficiency	HP:0000846
2626	GATA4	Broad forehead	HP:0000337
2626	GATA4	Micrognathia	HP:0000347
2626	GATA4	High forehead	HP:0000348
2626	GATA4	Ventricular septal defect	HP:0001629
2626	GATA4	Atrial septal defect	HP:0001631
2626	GATA4	Decreased fertility in females	HP:0000868
2626	GATA4	Nephrotic syndrome	HP:0000100
2626	GATA4	Tetralogy of Fallot	HP:0001636
2626	GATA4	Hypertrophic cardiomyopathy	HP:0001639
2626	GATA4	Pulmonic stenosis	HP:0001642
2626	GATA4	Attention deficit hyperactivity disorder	HP:0007018
2626	GATA4	Nephroblastoma	HP:0002667
2626	GATA4	Patent ductus arteriosus	HP:0001643
2626	GATA4	Clinodactyly of the 5th finger	HP:0004209
2626	GATA4	Low-set ears	HP:0000369
2626	GATA4	Preauricular pit	HP:0004467
2626	GATA4	External ear malformation	HP:0008572
2626	GATA4	Short nose	HP:0003196
2626	GATA4	Brachydactyly	HP:0001156
2626	GATA4	Gonadal dysgenesis	HP:0000133
2626	GATA4	Transposition of the great arteries	HP:0001669
2626	GATA4	Abnormal aortic morphology	HP:0001679
2626	GATA4	Ovarian gonadoblastoma	HP:0000149
2626	GATA4	Proximal placement of thumb	HP:0009623
2626	GATA4	Tapered finger	HP:0001182
2626	GATA4	Poor speech	HP:0002465
2626	GATA4	Underdeveloped supraorbital ridges	HP:0009891
2626	GATA4	Sparse axillary hair	HP:0002215
2626	GATA4	Urogenital sinus anomaly	HP:0100779
2626	GATA4	Prominent nasal bridge	HP:0000426
2626	GATA4	Osteoporosis	HP:0000939
2626	GATA4	Wide nasal bridge	HP:0000431
2626	GATA4	Sparse pubic hair	HP:0002225
2626	GATA4	Male infertility	HP:0003251
2626	GATA4	Delayed skeletal maturation	HP:0002750
2626	GATA4	Elevated circulating luteinizing hormone level	HP:0011969
2626	GATA4	Primum atrial septal defect	HP:0010445
2626	GATA4	Wide intermamillary distance	HP:0006610
2626	GATA4	Abnormal sex determination	HP:0012244
2626	GATA4	Short neck	HP:0000470
2626	GATA4	Abnormality of cardiovascular system morphology	HP:0030680
2626	GATA4	Clitoral hypertrophy	HP:0008665
2626	GATA4	High palate	HP:0000218
2626	GATA4	Streak ovary	HP:0010464
2626	GATA4	Seizures	HP:0001250
2626	GATA4	Short stature	HP:0004322
2626	GATA4	Pes planus	HP:0001763
2626	GATA4	Strabismus	HP:0000486
2626	GATA4	Intrauterine growth retardation	HP:0001511
2626	GATA4	Intellectual disability, mild	HP:0001256
2626	GATA4	Thin vermilion border	HP:0000233
2626	GATA4	Obesity	HP:0001513
2626	GATA4	Deeply set eye	HP:0000490
2626	GATA4	Decreased serum testosterone level	HP:0040171
2626	GATA4	Downslanted palpebral fissures	HP:0000494
2626	GATA4	Global developmental delay	HP:0001263
2626	GATA4	Abnormal nasal morphology	HP:0005105
2626	GATA4	Absence of secondary sex characteristics	HP:0008187
2626	GATA4	Microcephaly	HP:0000252
51778	MYOZ2	Left ventricular hypertrophy	HP:0001712
51778	MYOZ2	Left bundle branch block	HP:0011713
51778	MYOZ2	Ventricular tachycardia	HP:0004756
51778	MYOZ2	Asymmetric septal hypertrophy	HP:0001670
51778	MYOZ2	Autosomal dominant inheritance	HP:0000006
51778	MYOZ2	Atrial fibrillation	HP:0005110
2627	GATA6	Umbilical hernia	HP:0001537
2627	GATA6	Hyperglycemia	HP:0003074
2627	GATA6	Anterior pituitary agenesis	HP:0010626
2627	GATA6	Glycosuria	HP:0003076
2627	GATA6	Mild microcephaly	HP:0040196
2627	GATA6	Brachydactyly	HP:0001156
2627	GATA6	Transposition of the great arteries	HP:0001669
2627	GATA6	Autosomal dominant inheritance	HP:0000006
2627	GATA6	Intestinal malrotation	HP:0002566
2627	GATA6	Autosomal recessive inheritance	HP:0000007
2627	GATA6	Congenital diaphragmatic hernia	HP:0000776
2627	GATA6	Proptosis	HP:0000520
2627	GATA6	Colon perforation	HP:0031369
2627	GATA6	Complete atrioventricular canal defect	HP:0001674
2627	GATA6	Dolichocephaly	HP:0000268
2627	GATA6	Coarctation of aorta	HP:0001680
2627	GATA6	Abnormality of metabolism/homeostasis	HP:0001939
2627	GATA6	Secundum atrial septal defect	HP:0001684
2627	GATA6	Inguinal hernia	HP:0000023
2627	GATA6	Biliary atresia	HP:0005912
2627	GATA6	Hypoplasia of right ventricle	HP:0004762
2627	GATA6	Oligohydramnios	HP:0001562
2627	GATA6	Abnormality of the skeletal system	HP:0000924
2627	GATA6	Cryptorchidism	HP:0000028
2627	GATA6	Perimembranous ventricular septal defect	HP:0011682
2627	GATA6	Pancreatic hypoplasia	HP:0002594
2627	GATA6	Postaxial polydactyly	HP:0100259
2627	GATA6	Underdeveloped supraorbital ridges	HP:0009891
2627	GATA6	Microcolon	HP:0004388
2627	GATA6	Atrioventricular canal defect	HP:0006695
2627	GATA6	Neonatal hypotonia	HP:0001319
2627	GATA6	Single umbilical artery	HP:0001195
2627	GATA6	Pulmonary arterial hypertension	HP:0002092
2627	GATA6	Respiratory distress	HP:0002098
2627	GATA6	Diabetes mellitus	HP:0000819
2627	GATA6	Hypoplastic tricuspid valve	HP:0011573
2627	GATA6	Double outlet right ventricle	HP:0001719
2627	GATA6	Hypertelorism	HP:0000316
2627	GATA6	Prolonged partial thromboplastin time	HP:0003645
2627	GATA6	Double outlet left ventricle	HP:0011581
2627	GATA6	Pulmonary artery stenosis	HP:0004415
2627	GATA6	Feeding difficulties	HP:0011968
2627	GATA6	Pancreatic aplasia	HP:0100801
2627	GATA6	Broad hallux	HP:0010055
2627	GATA6	Ureteral duplication	HP:0000073
2627	GATA6	Aplasia/Hypoplasia of the gallbladder	HP:0011466
2627	GATA6	Exocrine pancreatic insufficiency	HP:0001738
2627	GATA6	Intermittent diarrhea	HP:0002254
2627	GATA6	Broad forehead	HP:0000337
2627	GATA6	Congenital hypothyroidism	HP:0000851
2627	GATA6	Neonatal insulin-dependent diabetes mellitus	HP:0000857
2627	GATA6	Interrupted aortic arch	HP:0011611
2627	GATA6	Ventricular septal defect	HP:0001629
2627	GATA6	Atrial septal defect	HP:0001631
2627	GATA6	Intellectual disability	HP:0001249
2627	GATA6	Seizures	HP:0001250
2627	GATA6	Tetralogy of Fallot	HP:0001636
2627	GATA6	Failure to thrive	HP:0001508
2627	GATA6	Muscular ventricular septal defect	HP:0011623
2627	GATA6	Intrauterine growth retardation	HP:0001511
2627	GATA6	Thin vermilion border	HP:0000233
2627	GATA6	Pulmonic stenosis	HP:0001642
2627	GATA6	Patent ductus arteriosus	HP:0001643
2627	GATA6	Congenital defect of the pericardium	HP:0011628
2627	GATA6	Small for gestational age	HP:0001518
2627	GATA6	Global developmental delay	HP:0001263
2627	GATA6	Abnormal nasal morphology	HP:0005105
2627	GATA6	Clinodactyly of the 5th finger	HP:0004209
2627	GATA6	Preauricular pit	HP:0004467
2627	GATA6	Patent foramen ovale	HP:0001655
2627	GATA6	Cervical ribs	HP:0000891
2627	GATA6	Microcephaly	HP:0000252
2627	GATA6	Truncus arteriosus	HP:0001660
2628	GATM	Intellectual disability	HP:0001249
2628	GATM	Failure to thrive	HP:0001508
2628	GATM	Autosomal recessive inheritance	HP:0000007
2628	GATM	Organic aciduria	HP:0001992
2628	GATM	Infantile onset	HP:0003593
2628	GATM	Reduced brain creatine level by MRS	HP:0025051
2628	GATM	Autism	HP:0000717
2628	GATM	Delayed speech and language development	HP:0000750
2628	GATM	Global developmental delay	HP:0001263
2628	GATM	Gowers sign	HP:0003391
2629	GBA	Akinesia	HP:0002304
2629	GBA	Protuberant abdomen	HP:0001538
2629	GBA	Ascites	HP:0001541
2629	GBA	Autosomal recessive inheritance	HP:0000007
2629	GBA	Gait disturbance	HP:0001288
2629	GBA	Spastic paraparesis	HP:0002313
2629	GBA	Cerebral atrophy	HP:0002059
2629	GBA	Psychomotor retardation	HP:0025356
2629	GBA	Rigidity	HP:0002063
2629	GBA	Abnormal aortic arch morphology	HP:0012303
2629	GBA	Resting tremor	HP:0002322
2629	GBA	Encephalopathy	HP:0001298
2629	GBA	Bradykinesia	HP:0002067
2629	GBA	Hematuria	HP:0000790
2629	GBA	Decreased fetal movement	HP:0001558
2629	GBA	Retrognathia	HP:0000278
2629	GBA	Polyhydramnios	HP:0001561
2629	GBA	Aortic valve calcification	HP:0004380
2629	GBA	Mitral valve calcification	HP:0004382
2629	GBA	Weight loss	HP:0001824
2629	GBA	Hypometric horizontal saccades	HP:0007975
2629	GBA	Progressive neurologic deterioration	HP:0002344
2629	GBA	Pulmonary arterial hypertension	HP:0002092
2629	GBA	Dyspnea	HP:0002094
2629	GBA	Respiratory distress	HP:0002098
2629	GBA	Everted upper lip vermilion	HP:0010803
2629	GBA	Dystonia	HP:0001332
2629	GBA	Recurrent aspiration pneumonia	HP:0002100
2629	GBA	Dyskinesia	HP:0100660
2629	GBA	Esotropia	HP:0000565
2629	GBA	Hypertension	HP:0000822
2629	GBA	Frequent falls	HP:0002359
2629	GBA	Delayed puberty	HP:0000823
2629	GBA	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
2629	GBA	Sleep disturbance	HP:0002360
2629	GBA	Myoclonus	HP:0001336
2629	GBA	Apnea	HP:0002104
2629	GBA	Hyposmia	HP:0004409
2629	GBA	Shuffling gait	HP:0002362
2629	GBA	Hypertelorism	HP:0000316
2629	GBA	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
2629	GBA	Visual hallucinations	HP:0002367
2629	GBA	Pulmonary infiltrates	HP:0002113
2629	GBA	Muscle spasm	HP:0003394
2629	GBA	Hyperreflexia	HP:0001347
2629	GBA	Triangular face	HP:0000325
2629	GBA	Vascular calcification	HP:0004934
2629	GBA	Ventriculomegaly	HP:0002119
2629	GBA	Hypokinesia	HP:0002375
2629	GBA	Cerebral cortical atrophy	HP:0002120
2629	GBA	Decreased beta-glucocerebrosidase activity	HP:0003656
2629	GBA	Generalized myoclonic seizures	HP:0002123
2629	GBA	Opacification of the corneal stroma	HP:0007759
2629	GBA	Thrombocytopenia	HP:0001873
2629	GBA	Hypomimic face	HP:0000338
2629	GBA	Pancytopenia	HP:0001876
2629	GBA	Premature birth	HP:0001622
2629	GBA	Leukopenia	HP:0001882
2629	GBA	Ophthalmoplegia	HP:0000602
2629	GBA	Fatigue	HP:0012378
2629	GBA	Flexion contracture	HP:0001371
2629	GBA	Micrognathia	HP:0000347
2629	GBA	Bone pain	HP:0002653
2629	GBA	Proteinuria	HP:0000093
2629	GBA	Increased susceptibility to fractures	HP:0002659
2629	GBA	Congestive heart failure	HP:0001635
2629	GBA	Calcification of the aorta	HP:0004963
2629	GBA	Abnormal myocardium morphology	HP:0001637
2629	GBA	Impulsivity	HP:0100710
2629	GBA	Microtia	HP:0008551
2629	GBA	Cardiomegaly	HP:0001640
2629	GBA	Hearing impairment	HP:0000365
2629	GBA	Biliary tract obstruction	HP:0005230
2629	GBA	Anemia	HP:0001903
2629	GBA	Erlenmeyer flask deformity of the femurs	HP:0004975
2629	GBA	Supranuclear ophthalmoplegia	HP:0000623
2629	GBA	Low-set, posteriorly rotated ears	HP:0000368
2629	GBA	Low-set ears	HP:0000369
2629	GBA	Cirrhosis	HP:0001394
2629	GBA	Multiple myeloma	HP:0006775
2629	GBA	Neurological speech impairment	HP:0002167
2629	GBA	Hepatic failure	HP:0001399
2629	GBA	Intracranial hemorrhage	HP:0002170
2629	GBA	Gliosis	HP:0002171
2629	GBA	Postural instability	HP:0002172
2629	GBA	Short nose	HP:0003196
2629	GBA	Desquamation of skin soon after birth	HP:0007549
2629	GBA	Ichthyosis	HP:0008064
2629	GBA	Interstitial pulmonary abnormality	HP:0006530
2629	GBA	Opisthotonus	HP:0002179
2629	GBA	Avascular necrosis	HP:0010885
2629	GBA	Vertebral compression fractures	HP:0002953
2629	GBA	Horizontal supranuclear gaze palsy	HP:0007817
2629	GBA	Thoracic hypoplasia	HP:0005257
2629	GBA	Diplopia	HP:0000651
2629	GBA	Schizophrenia	HP:0100753
2629	GBA	Ectropion	HP:0000656
2629	GBA	Oculomotor apraxia	HP:0000657
2629	GBA	Hepatosplenomegaly	HP:0001433
2629	GBA	Horizontal nystagmus	HP:0000666
2629	GBA	Recurrent respiratory infections	HP:0002205
2629	GBA	Cardiac arrest	HP:0001695
2629	GBA	Depressed nasal bridge	HP:0005280
2629	GBA	Narrow mouth	HP:0000160
2629	GBA	Chronic constipation	HP:0012450
2629	GBA	Pericardial effusion	HP:0001698
2629	GBA	Reticular hyperpigmentation	HP:0007588
2629	GBA	Epistaxis	HP:0000421
2629	GBA	Osteopenia	HP:0000938
2629	GBA	Hypersplenism	HP:0001971
2629	GBA	Bulbar signs	HP:0002483
2629	GBA	Mitral stenosis	HP:0001718
2629	GBA	Hyperpigmentation of the skin	HP:0000953
2629	GBA	Delayed skeletal maturation	HP:0002750
2629	GBA	Cough	HP:0012735
2629	GBA	Hepatomegaly	HP:0002240
2629	GBA	Feeding difficulties	HP:0011968
2629	GBA	Hyperkeratosis	HP:0000962
2629	GBA	Open mouth	HP:0000194
2629	GBA	Pathologic fracture	HP:0002756
2629	GBA	Fetal akinesia sequence	HP:0001989
2629	GBA	Osteoarthritis	HP:0002758
2629	GBA	Petechiae	HP:0000967
2629	GBA	Agitation	HP:0000713
2629	GBA	Monotonic speech	HP:0031435
2629	GBA	Depressivity	HP:0000716
2629	GBA	Slowed horizontal saccades	HP:0007885
2629	GBA	Increased antibody level in blood	HP:0010702
2629	GBA	Anteverted nares	HP:0000463
2629	GBA	Splenomegaly	HP:0001744
2629	GBA	Bruising susceptibility	HP:0000978
2629	GBA	Trismus	HP:0000211
2629	GBA	Dementia	HP:0000726
2629	GBA	Lewy bodies	HP:0100315
2629	GBA	High palate	HP:0000218
2629	GBA	Spastic/hyperactive bladder	HP:0005340
2629	GBA	Abnormality of the eye	HP:0000478
2629	GBA	Dysphagia	HP:0002015
2629	GBA	Gingival bleeding	HP:0000225
2629	GBA	Pes cavus	HP:0001761
2629	GBA	Short stature	HP:0004322
2629	GBA	Seizures	HP:0001250
2629	GBA	Ataxia	HP:0001251
2629	GBA	Neonatal death	HP:0003811
2629	GBA	Failure to thrive	HP:0001508
2629	GBA	Muscular hypotonia	HP:0001252
2629	GBA	Apathy	HP:0000741
2629	GBA	Decreased body weight	HP:0004325
2629	GBA	Strabismus	HP:0000486
2629	GBA	Intrauterine growth retardation	HP:0001511
2629	GBA	Low frustration tolerance	HP:0000744
2629	GBA	Everted lower lip vermilion	HP:0000232
2629	GBA	Macular atrophy	HP:0007401
2629	GBA	Spasticity	HP:0001257
2629	GBA	Abnormal pattern of respiration	HP:0002793
2629	GBA	Abdominal pain	HP:0002027
2629	GBA	Osteolysis	HP:0002797
2629	GBA	Hydrocephalus	HP:0000238
2629	GBA	Global developmental delay	HP:0001263
2629	GBA	Stillbirth	HP:0003826
2629	GBA	Death in infancy	HP:0001522
2629	GBA	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
2629	GBA	Arthrogryposis multiplex congenita	HP:0002804
2629	GBA	Pedal edema	HP:0010741
2629	GBA	Motor delay	HP:0001270
2629	GBA	Anorexia	HP:0002039
2629	GBA	Kyphosis	HP:0002808
2629	GBA	Increased bone mineral density	HP:0011001
2629	GBA	Hypertonia	HP:0001276
2629	GBA	Microcephaly	HP:0000252
2629	GBA	Adult onset	HP:0003581
2629	GBA	Hydrops fetalis	HP:0001789
2629	GBA	Nonimmune hydrops fetalis	HP:0001790
2632	GBE1	EMG abnormality	HP:0003457
2632	GBE1	Portal hypertension	HP:0001409
2632	GBE1	Skeletal muscle atrophy	HP:0003202
2632	GBE1	Abnormality of the cerebral white matter	HP:0002500
2632	GBE1	Behavioral abnormality	HP:0000708
2632	GBE1	Ascites	HP:0001541
2632	GBE1	Autosomal recessive inheritance	HP:0000007
2632	GBE1	Gait disturbance	HP:0001288
2632	GBE1	Tubulointerstitial fibrosis	HP:0005576
2632	GBE1	Paresthesia	HP:0003401
2632	GBE1	Edema	HP:0000969
2632	GBE1	Generalized hypotonia	HP:0001290
2632	GBE1	Neurogenic bladder	HP:0000011
2632	GBE1	Abnormal upper motor neuron morphology	HP:0002127
2632	GBE1	Abnormality of metabolism/homeostasis	HP:0001939
2632	GBE1	Urinary incontinence	HP:0000020
2632	GBE1	Peripheral axonal neuropathy	HP:0003477
2632	GBE1	Dementia	HP:0000726
2632	GBE1	Decreased fetal movement	HP:0001558
2632	GBE1	Urinary bladder sphincter dysfunction	HP:0002839
2632	GBE1	Abnormality of extrapyramidal motor function	HP:0002071
2632	GBE1	Abnormal pyramidal sign	HP:0007256
2632	GBE1	Hepatosplenomegaly	HP:0001433
2632	GBE1	Polyhydramnios	HP:0001561
2632	GBE1	Slow progression	HP:0003677
2632	GBE1	Limitation of joint mobility	HP:0001376
2632	GBE1	Tetraparesis	HP:0002273
2632	GBE1	Intellectual disability	HP:0001249
2632	GBE1	Ataxia	HP:0001251
2632	GBE1	Reduced tendon reflexes	HP:0001315
2632	GBE1	Muscular hypotonia	HP:0001252
2632	GBE1	Failure to thrive	HP:0001508
2632	GBE1	Cardiomyopathy	HP:0001638
2632	GBE1	Skin ulcer	HP:0200042
2632	GBE1	Spasticity	HP:0001257
2632	GBE1	Spastic paraplegia	HP:0001258
2632	GBE1	Muscle weakness	HP:0001324
2632	GBE1	Cirrhosis	HP:0001394
2632	GBE1	Arthrogryposis multiplex congenita	HP:0002804
2632	GBE1	Hemiparesis	HP:0001269
2632	GBE1	Hepatic failure	HP:0001399
2632	GBE1	Distal sensory impairment	HP:0002936
2632	GBE1	Esophageal varix	HP:0002040
2632	GBE1	Adult onset	HP:0003581
2632	GBE1	Hydrops fetalis	HP:0001789
2632	GBE1	Cognitive impairment	HP:0100543
2632	GBE1	Orthostatic hypotension	HP:0001278
150094	SIK1	Eyelid myoclonias	HP:0011168
150094	SIK1	Feeding difficulties	HP:0011968
150094	SIK1	Absent speech	HP:0001344
150094	SIK1	Hyperreflexia	HP:0001347
150094	SIK1	Muscular hypotonia	HP:0001252
150094	SIK1	Epileptic encephalopathy	HP:0200134
150094	SIK1	Lethargy	HP:0001254
150094	SIK1	Autosomal dominant inheritance	HP:0000006
150094	SIK1	Developmental regression	HP:0002376
150094	SIK1	Generalized myoclonic seizures	HP:0002123
150094	SIK1	Global developmental delay	HP:0001263
150094	SIK1	Poor suck	HP:0002033
150094	SIK1	Abnormality of skin morphology	HP:0011121
150094	SIK1	Encephalopathy	HP:0001298
150094	SIK1	Respiratory distress	HP:0002098
150094	SIK1	Death in infancy	HP:0001522
150094	SIK1	Infantile spasms	HP:0012469
150094	SIK1	Generalized tonic-clonic seizures	HP:0002069
150094	SIK1	Myoclonus	HP:0001336
150094	SIK1	Hypsarrhythmia	HP:0002521
150094	SIK1	Recurrent respiratory infections	HP:0002205
150094	SIK1	Stereotypy	HP:0000733
150094	SIK1	Dysphagia	HP:0002015
150094	SIK1	Focal tonic seizures	HP:0011167
92749	DRC1	Recurrent otitis media	HP:0000403
92749	DRC1	Chronic sinusitis	HP:0011109
92749	DRC1	Autosomal recessive inheritance	HP:0000007
92749	DRC1	Ciliary dyskinesia	HP:0012265
92749	DRC1	Recurrent respiratory infections	HP:0002205
92749	DRC1	Bronchiectasis	HP:0002110
92749	DRC1	Atelectasis	HP:0100750
2639	GCDH	Hepatomegaly	HP:0002240
2639	GCDH	Macrocephaly	HP:0000256
2639	GCDH	Infantile encephalopathy	HP:0007105
2639	GCDH	Opisthotonus	HP:0002179
2639	GCDH	Autosomal recessive inheritance	HP:0000007
2639	GCDH	Gait disturbance	HP:0001288
2639	GCDH	Developmental regression	HP:0002376
2639	GCDH	Generalized hypotonia	HP:0001290
2639	GCDH	Glutaric acidemia	HP:0003530
2639	GCDH	Cerebral ischemia	HP:0002637
2639	GCDH	Glutaric aciduria	HP:0003150
2639	GCDH	Rigidity	HP:0002063
2639	GCDH	Abnormal facial shape	HP:0001999
2639	GCDH	Vertigo	HP:0002321
2639	GCDH	Encephalopathy	HP:0001298
2639	GCDH	Prominent forehead	HP:0011220
2639	GCDH	Metabolic acidosis	HP:0001942
2639	GCDH	Hypoglycemia	HP:0001943
2639	GCDH	Abnormality of extrapyramidal motor function	HP:0002071
2639	GCDH	Symmetrical progressive peripheral demyelination	HP:0006873
2639	GCDH	Migraine	HP:0002076
2639	GCDH	Joint dislocation	HP:0001373
2639	GCDH	Vomiting	HP:0002013
2639	GCDH	Delayed myelination	HP:0012448
2639	GCDH	Irritability	HP:0000737
2639	GCDH	Seizures	HP:0001250
2639	GCDH	Muscular hypotonia	HP:0001252
2639	GCDH	Failure to thrive	HP:0001508
2639	GCDH	Ketonuria	HP:0002919
2639	GCDH	Feeding difficulties in infancy	HP:0008872
2639	GCDH	Spasticity	HP:0001257
2639	GCDH	Coma	HP:0001259
2639	GCDH	Dilation of lateral ventricles	HP:0006956
2639	GCDH	Abnormal retinal vascular morphology	HP:0008046
2639	GCDH	Large fontanelles	HP:0000239
2639	GCDH	Spastic diplegia	HP:0001264
2639	GCDH	Abnormality of eye movement	HP:0000496
2639	GCDH	Choreoathetosis	HP:0001266
2639	GCDH	Dystonia	HP:0001332
2639	GCDH	Dyskinesia	HP:0100660
2639	GCDH	Neurological speech impairment	HP:0002167
2639	GCDH	Hyperketonemia	HP:0410175
2639	GCDH	Intracranial hemorrhage	HP:0002170
2639	GCDH	Hemiplegia	HP:0002301
2639	GCDH	Cognitive impairment	HP:0100543
2639	GCDH	Malignant hyperthermia	HP:0002047
2642	GCGR	Increased glucagon level	HP:0030688
2642	GCGR	Glucagonoma	HP:0030404
2642	GCGR	Abnormal biliary tract morphology	HP:0012440
2642	GCGR	Cholelithiasis	HP:0001081
2642	GCGR	Abdominal pain	HP:0002027
2642	GCGR	Neoplasm of the pancreas	HP:0002894
2643	GCH1	Autosomal dominant inheritance	HP:0000006
2643	GCH1	Autosomal recessive inheritance	HP:0000007
2643	GCH1	Infantile onset	HP:0003593
2643	GCH1	Psychomotor retardation	HP:0025356
2643	GCH1	Rigidity	HP:0002063
2643	GCH1	Heterogeneous	HP:0001425
2643	GCH1	Gait ataxia	HP:0002066
2643	GCH1	Bradykinesia	HP:0002067
2643	GCH1	Limb dystonia	HP:0002451
2643	GCH1	Parkinsonism	HP:0001300
2643	GCH1	Horizontal nystagmus	HP:0000666
2643	GCH1	Generalized dystonia	HP:0007325
2643	GCH1	Babinski sign	HP:0003487
2643	GCH1	Recurrent fever	HP:0001954
2643	GCH1	Progressive neurologic deterioration	HP:0002344
2643	GCH1	Paresis of extensor muscles of the big toe	HP:0002601
2643	GCH1	Severe muscular hypotonia	HP:0006829
2643	GCH1	Writer's cramp	HP:0002356
2643	GCH1	Dystonia	HP:0001332
2643	GCH1	Hypothyroidism	HP:0000821
2643	GCH1	Hypertension	HP:0000822
2643	GCH1	Hyperkinesis	HP:0002487
2643	GCH1	Sleep disturbance	HP:0002360
2643	GCH1	Tremor	HP:0001337
2643	GCH1	Hyperphenylalaninemia	HP:0004923
2643	GCH1	Hyperreflexia	HP:0001347
2643	GCH1	Brisk reflexes	HP:0001348
2643	GCH1	Excessive salivation	HP:0003781
2643	GCH1	Childhood onset	HP:0011463
2643	GCH1	Decreased CSF homovanillic acid	HP:0003785
2643	GCH1	Depressivity	HP:0000716
2643	GCH1	Limb hypertonia	HP:0002509
2643	GCH1	Abnormality of the substantia nigra	HP:0045007
2643	GCH1	Obsessive-compulsive behavior	HP:0000722
2643	GCH1	Torticollis	HP:0000473
2643	GCH1	Scoliosis	HP:0002650
2643	GCH1	Rheumatoid arthritis	HP:0001370
2643	GCH1	Fatigue	HP:0012378
2643	GCH1	Lower limb hyperreflexia	HP:0002395
2643	GCH1	Dysphagia	HP:0002015
2643	GCH1	Pes cavus	HP:0001761
2643	GCH1	Irritability	HP:0000737
2643	GCH1	Talipes equinovarus	HP:0001762
2643	GCH1	Seizures	HP:0001250
2643	GCH1	Anxiety	HP:0000739
2643	GCH1	Lethargy	HP:0001254
2643	GCH1	Intellectual disability, progressive	HP:0006887
2643	GCH1	Transient hyperphenylalaninemia	HP:0008297
2643	GCH1	Hearing impairment	HP:0000365
2643	GCH1	Global developmental delay	HP:0001263
2643	GCH1	Abnormality of eye movement	HP:0000496
2643	GCH1	Choreoathetosis	HP:0001266
2643	GCH1	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
2643	GCH1	Variable expressivity	HP:0003828
2643	GCH1	Progressive flexion contractures	HP:0005876
2643	GCH1	Impaired vibration sensation in the lower limbs	HP:0002166
2643	GCH1	Postural tremor	HP:0002174
2645	GCK	Late onset	HP:0003584
2645	GCK	Hyperglycemia	HP:0003074
2645	GCK	Reduced pancreatic beta cells	HP:0006274
2645	GCK	Clinodactyly	HP:0030084
2645	GCK	Glycosuria	HP:0003076
2645	GCK	Autosomal dominant inheritance	HP:0000006
2645	GCK	Beta-cell dysfunction	HP:0006279
2645	GCK	Autosomal recessive inheritance	HP:0000007
2645	GCK	Apraxia	HP:0002186
2645	GCK	Heterogeneous	HP:0001425
2645	GCK	Generalized tonic-clonic seizures	HP:0002069
2645	GCK	Peripheral axonal neuropathy	HP:0003477
2645	GCK	Dehydration	HP:0001944
2645	GCK	Downturned corners of mouth	HP:0002714
2645	GCK	Abnormality of the immune system	HP:0002715
2645	GCK	Weight loss	HP:0001824
2645	GCK	Pancreatic hypoplasia	HP:0002594
2645	GCK	Maturity-onset diabetes of the young	HP:0004904
2645	GCK	Muscle weakness	HP:0001324
2645	GCK	Hypoglycemic coma	HP:0001325
2645	GCK	Limb joint contracture	HP:0003121
2645	GCK	Microalbuminuria	HP:0012594
2645	GCK	Diabetes mellitus	HP:0000819
2645	GCK	Hyperinsulinemic hypoglycemia	HP:0000825
2645	GCK	Hypoketotic hypoglycemia	HP:0001985
2645	GCK	Recurrent hypoglycemia	HP:0001988
2645	GCK	Ketoacidosis	HP:0001993
2645	GCK	Hand tremor	HP:0002378
2645	GCK	Abnormal C-peptide level	HP:0030794
2645	GCK	Generalized myoclonic seizures	HP:0002123
2645	GCK	Decreased waist to hip ratio	HP:0031820
2645	GCK	Anteverted nares	HP:0000463
2645	GCK	Bilateral ptosis	HP:0001488
2645	GCK	Abnormality of the ear	HP:0000598
2645	GCK	Long philtrum	HP:0000343
2645	GCK	Insulin resistance	HP:0000855
2645	GCK	Hypsarrhythmia	HP:0002521
2645	GCK	Neonatal insulin-dependent diabetes mellitus	HP:0000857
2645	GCK	Type II diabetes mellitus	HP:0005978
2645	GCK	Fatigue	HP:0012378
2645	GCK	Abnormal heart morphology	HP:0001627
2645	GCK	Fasting hyperinsulinemia	HP:0008283
2645	GCK	Abnormality of the autonomic nervous system	HP:0002270
2645	GCK	Intellectual disability	HP:0001249
2645	GCK	Seizures	HP:0001250
2645	GCK	Hypovolemia	HP:0011106
2645	GCK	Ataxia	HP:0001251
2645	GCK	Failure to thrive	HP:0001508
2645	GCK	Muscular hypotonia	HP:0001252
2645	GCK	Peripheral neuropathy	HP:0009830
2645	GCK	Intrauterine growth retardation	HP:0001511
2645	GCK	Ketonuria	HP:0002919
2645	GCK	Muscular hypotonia of the trunk	HP:0008936
2645	GCK	Retinopathy	HP:0000488
2645	GCK	Coma	HP:0001259
2645	GCK	Hearing impairment	HP:0000365
2645	GCK	Small for gestational age	HP:0001518
2645	GCK	Prominent metopic ridge	HP:0005487
2645	GCK	Global developmental delay	HP:0001263
2645	GCK	Intellectual disability, severe	HP:0010864
2645	GCK	Arthrogryposis multiplex congenita	HP:0002804
2645	GCK	Motor delay	HP:0001270
2645	GCK	Contractures of the joints of the lower limbs	HP:0005750
2645	GCK	Radial deviation of finger	HP:0009466
2645	GCK	Ptosis	HP:0000508
2645	GCK	Short nose	HP:0003196
2645	GCK	Renal tubular dysfunction	HP:0000124
2645	GCK	Hypoglycemic seizures	HP:0002173
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
84570	COL25A1	Preauricular skin tag	HP:0000384
84570	COL25A1	Aplasia/Hypoplasia of the thumb	HP:0009601
84570	COL25A1	Skeletal muscle atrophy	HP:0003202
84570	COL25A1	Blepharospasm	HP:0000643
84570	COL25A1	Brachydactyly	HP:0001156
84570	COL25A1	Amblyopia	HP:0000646
84570	COL25A1	Absent radius	HP:0003974
84570	COL25A1	Autosomal recessive inheritance	HP:0000007
84570	COL25A1	Abnormal vertebral segmentation and fusion	HP:0005640
84570	COL25A1	Central heterochromia	HP:0007818
84570	COL25A1	Aniridia	HP:0000526
84570	COL25A1	Stenosis of the external auditory canal	HP:0000402
84570	COL25A1	Sensorineural hearing impairment	HP:0000407
84570	COL25A1	Preaxial hand polydactyly	HP:0001177
84570	COL25A1	Hypopigmented skin patches	HP:0001053
84570	COL25A1	Hypoplasia of the radius	HP:0002984
84570	COL25A1	Triphalangeal thumb	HP:0001199
84570	COL25A1	Wide nasal bridge	HP:0000431
84570	COL25A1	Cleft palate	HP:0000175
84570	COL25A1	Hypoplastic iris stroma	HP:0007990
84570	COL25A1	Chorioretinal coloboma	HP:0000567
84570	COL25A1	Anorectal anomaly	HP:0012732
84570	COL25A1	Facial asymmetry	HP:0000324
84570	COL25A1	Blepharophimosis	HP:0000581
84570	COL25A1	Short palpebral fissure	HP:0012745
84570	COL25A1	Plagiocephaly	HP:0001357
84570	COL25A1	Anteverted nares	HP:0000463
84570	COL25A1	Webbed neck	HP:0000465
84570	COL25A1	Optic disc hypoplasia	HP:0007766
84570	COL25A1	Short neck	HP:0000470
84570	COL25A1	Oculomotor nerve palsy	HP:0012246
84570	COL25A1	Ectopic kidney	HP:0000086
84570	COL25A1	Abnormality of cardiovascular system morphology	HP:0030680
84570	COL25A1	Micrognathia	HP:0000347
84570	COL25A1	Camptodactyly	HP:0012385
84570	COL25A1	Seizures	HP:0001250
84570	COL25A1	Spina bifida occulta	HP:0003298
84570	COL25A1	Microcornea	HP:0000482
84570	COL25A1	Talipes equinovarus	HP:0001762
84570	COL25A1	Iris coloboma	HP:0000612
84570	COL25A1	Patchy hypopigmentation of hair	HP:0011365
84570	COL25A1	Strabismus	HP:0000486
84570	COL25A1	Abnormal pupil morphology	HP:0000615
84570	COL25A1	Irregular hyperpigmentation	HP:0007400
84570	COL25A1	Everted lower lip vermilion	HP:0000232
84570	COL25A1	Deeply set eye	HP:0000490
84570	COL25A1	Global developmental delay	HP:0001263
84570	COL25A1	Abnormal form of the vertebral bodies	HP:0003312
84570	COL25A1	Low posterior hairline	HP:0002162
84570	COL25A1	Congenital onset	HP:0003577
84570	COL25A1	Narrow internal auditory canal	HP:0011386
84570	COL25A1	Ptosis	HP:0000508
84570	COL25A1	Microcephaly	HP:0000252
84570	COL25A1	External ear malformation	HP:0008572
84570	COL25A1	Nystagmus	HP:0000639
2651	GCNT2	Autosomal dominant inheritance	HP:0000006
2651	GCNT2	Autosomal recessive inheritance	HP:0000007
2651	GCNT2	Developmental cataract	HP:0000519
2651	GCNT2	Blood group antigen abnormality	HP:0010970
2652	OPN1MW	Abnormal electroretinogram	HP:0000512
2652	OPN1MW	Deuteranomaly	HP:0011520
2652	OPN1MW	Myopia	HP:0000545
2652	OPN1MW	Abnormality of macular pigmentation	HP:0008002
2652	OPN1MW	Blue cone monochromacy	HP:0007939
2652	OPN1MW	Photophobia	HP:0000613
2652	OPN1MW	Color vision defect	HP:0000551
2652	OPN1MW	Corneal dystrophy	HP:0001131
2652	OPN1MW	X-linked recessive inheritance	HP:0001419
2652	OPN1MW	Pendular nystagmus	HP:0012043
2652	OPN1MW	Reduced visual acuity	HP:0007663
2652	OPN1MW	Nyctalopia	HP:0000662
2652	OPN1MW	Abnormality of retinal pigmentation	HP:0007703
2652	OPN1MW	Visual impairment	HP:0000505
2652	OPN1MW	Nystagmus	HP:0000639
84572	GNPTG	Pectus carinatum	HP:0000768
84572	GNPTG	Myopia	HP:0000545
84572	GNPTG	Short stature	HP:0004322
84572	GNPTG	Abnormality of the hand	HP:0001155
84572	GNPTG	Increased serum beta-hexosaminidase	HP:0003333
84572	GNPTG	Autosomal recessive inheritance	HP:0000007
84572	GNPTG	Intellectual disability, mild	HP:0001256
84572	GNPTG	Genu valgum	HP:0002857
84572	GNPTG	Flat capital femoral epiphysis	HP:0003370
84572	GNPTG	Abnormality of the rib cage	HP:0001547
84572	GNPTG	Joint stiffness	HP:0001387
84572	GNPTG	Hyperlordosis	HP:0003307
84572	GNPTG	Arthralgia	HP:0002829
84572	GNPTG	Dysostosis multiplex	HP:0000943
84572	GNPTG	Opacification of the corneal stroma	HP:0007759
84572	GNPTG	Increased serum iduronate sulfatase activity	HP:0003538
84572	GNPTG	Aortic valve stenosis	HP:0001650
84572	GNPTG	Flared iliac wings	HP:0002869
84572	GNPTG	Short neck	HP:0000470
84572	GNPTG	Coarse facial features	HP:0000280
84572	GNPTG	Kyphosis	HP:0002808
84572	GNPTG	Scoliosis	HP:0002650
84572	GNPTG	Aortic regurgitation	HP:0001659
27229	TUBGCP4	Aplasia/Hypoplasia of the cerebellum	HP:0007360
27229	TUBGCP4	Biparietal narrowing	HP:0004422
27229	TUBGCP4	Autosomal recessive inheritance	HP:0000007
27229	TUBGCP4	Cerebral cortical atrophy	HP:0002120
27229	TUBGCP4	Optic atrophy	HP:0000648
27229	TUBGCP4	Abnormal facial shape	HP:0001999
27229	TUBGCP4	Anteverted nares	HP:0000463
27229	TUBGCP4	Sloping forehead	HP:0000340
27229	TUBGCP4	Abnormality of retinal pigmentation	HP:0007703
27229	TUBGCP4	Scoliosis	HP:0002650
27229	TUBGCP4	Protruding ear	HP:0000411
27229	TUBGCP4	Abnormality of neuronal migration	HP:0002269
27229	TUBGCP4	Intellectual disability	HP:0001249
27229	TUBGCP4	Seizures	HP:0001250
27229	TUBGCP4	Short stature	HP:0004322
27229	TUBGCP4	Strabismus	HP:0000486
27229	TUBGCP4	Intrauterine growth retardation	HP:0001511
27229	TUBGCP4	Global developmental delay	HP:0001263
27229	TUBGCP4	Reduced visual acuity	HP:0007663
27229	TUBGCP4	Wide nasal bridge	HP:0000431
27229	TUBGCP4	Chorioretinal dysplasia	HP:0007731
27229	TUBGCP4	Pointed chin	HP:0000307
27229	TUBGCP4	Abnormal eyelash morphology	HP:0000499
27229	TUBGCP4	Microphthalmia	HP:0000568
27229	TUBGCP4	Congenital onset	HP:0003577
27229	TUBGCP4	Visual impairment	HP:0000505
27229	TUBGCP4	Microcephaly	HP:0000252
27229	TUBGCP4	Hypertonia	HP:0001276
27229	TUBGCP4	Nystagmus	HP:0000639
2653	GCSH	Intellectual disability	HP:0001249
2653	GCSH	Irritability	HP:0000737
2653	GCSH	Seizures	HP:0001250
2653	GCSH	Hyperreflexia	HP:0001347
2653	GCSH	Hyperglycinuria	HP:0003108
2653	GCSH	Muscular hypotonia	HP:0001252
2653	GCSH	Lethargy	HP:0001254
2653	GCSH	Impulsivity	HP:0100710
2653	GCSH	Autosomal recessive inheritance	HP:0000007
2653	GCSH	Restlessness	HP:0000711
2653	GCSH	Generalized hypotonia	HP:0001290
2653	GCSH	Hyperglycinemia	HP:0002154
2653	GCSH	Aggressive behavior	HP:0000718
2653	GCSH	Hyperactivity	HP:0000752
2653	GCSH	Hyporeflexia	HP:0001265
2653	GCSH	Death in infancy	HP:0001522
2653	GCSH	Encephalopathy	HP:0001298
2653	GCSH	Recurrent singultus	HP:0100247
2653	GCSH	Myoclonus	HP:0001336
2653	GCSH	Agenesis of corpus callosum	HP:0001274
10845	CLPX	Cutaneous photosensitivity	HP:0000992
10845	CLPX	Variable expressivity	HP:0003828
10845	CLPX	Autosomal dominant inheritance	HP:0000006
10845	CLPX	Infantile onset	HP:0003593
10846	PDE10A	Feeding difficulties	HP:0011968
10846	PDE10A	Drooling	HP:0002307
10846	PDE10A	Autosomal dominant inheritance	HP:0000006
10846	PDE10A	Orofacial dyskinesia	HP:0002310
10846	PDE10A	Autosomal recessive inheritance	HP:0000007
10846	PDE10A	Infantile onset	HP:0003593
10846	PDE10A	Unsteady gait	HP:0002317
10846	PDE10A	Nasogastric tube feeding in infancy	HP:0011470
10846	PDE10A	Parkinsonism	HP:0001300
10846	PDE10A	Chorea	HP:0002072
10846	PDE10A	Hemiballismus	HP:0100248
10846	PDE10A	Nonprogressive	HP:0003680
10846	PDE10A	Intellectual disability	HP:0001249
10846	PDE10A	Seizures	HP:0001250
10846	PDE10A	Anxiety	HP:0000739
10846	PDE10A	Striatal T2 hyperintensity	HP:0031206
10846	PDE10A	Muscular hypotonia of the trunk	HP:0008936
10846	PDE10A	Dysarthria	HP:0001260
10846	PDE10A	Abnormal corpus striatum morphology	HP:0010994
10846	PDE10A	Mental deterioration	HP:0001268
10846	PDE10A	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
10846	PDE10A	Dyskinesia	HP:0100660
10846	PDE10A	Motor delay	HP:0001270
10846	PDE10A	Hyperkinesis	HP:0002487
10846	PDE10A	Frequent falls	HP:0002359
10846	PDE10A	Tremor	HP:0001337
51807	TUBA8	Colpocephaly	HP:0030048
51807	TUBA8	Optic nerve hypoplasia	HP:0000609
51807	TUBA8	Hyporeflexia	HP:0001265
51807	TUBA8	Seizures	HP:0001250
51807	TUBA8	Neonatal hypotonia	HP:0001319
51807	TUBA8	Autosomal recessive inheritance	HP:0000007
51807	TUBA8	Congenital onset	HP:0003577
51807	TUBA8	Intellectual disability, profound	HP:0002187
51807	TUBA8	Microcephaly	HP:0000252
51807	TUBA8	Hypoplasia of the brainstem	HP:0002365
51807	TUBA8	Polymicrogyria	HP:0002126
51807	TUBA8	Global developmental delay	HP:0001263
10847	SRCAP	Abnormal soft palate morphology	HP:0100736
10847	SRCAP	Umbilical hernia	HP:0001537
10847	SRCAP	Brachydactyly	HP:0001156
10847	SRCAP	Autosomal dominant inheritance	HP:0000006
10847	SRCAP	Broad columella	HP:0010761
10847	SRCAP	Camptodactyly of finger	HP:0100490
10847	SRCAP	Long eyelashes	HP:0000527
10847	SRCAP	Coarctation of aorta	HP:0001680
10847	SRCAP	Generalized cerebral atrophy/hypoplasia	HP:0007058
10847	SRCAP	Recurrent otitis media	HP:0000403
10847	SRCAP	Conductive hearing impairment	HP:0000405
10847	SRCAP	Inguinal hernia	HP:0000023
10847	SRCAP	Wide mouth	HP:0000154
10847	SRCAP	Downturned corners of mouth	HP:0002714
10847	SRCAP	Hypermetropia	HP:0000540
10847	SRCAP	Cryptorchidism	HP:0000028
10847	SRCAP	Bulbous nose	HP:0000414
10847	SRCAP	Hypoplasia of penis	HP:0008736
10847	SRCAP	Broad thumb	HP:0011304
10847	SRCAP	Feeding difficulties in infancy	HP:0008872
10847	SRCAP	Expressive language delay	HP:0002474
10847	SRCAP	Underdeveloped nasal alae	HP:0000430
10847	SRCAP	Wide nasal bridge	HP:0000431
10847	SRCAP	Hypospadias	HP:0000047
10847	SRCAP	Celiac disease	HP:0002608
10847	SRCAP	Persistent left superior vena cava	HP:0005301
10847	SRCAP	Generalized hirsutism	HP:0002230
10847	SRCAP	Congenital pseudoarthrosis of the clavicle	HP:0006585
10847	SRCAP	Joint hyperflexibility	HP:0005692
10847	SRCAP	Delayed skeletal maturation	HP:0002750
10847	SRCAP	Cognitive impairment	HP:0100543
10847	SRCAP	Smooth philtrum	HP:0000319
10847	SRCAP	Prominent nose	HP:0000448
10847	SRCAP	Short philtrum	HP:0000322
10847	SRCAP	Triangular face	HP:0000325
10847	SRCAP	Varicocele	HP:0012871
10847	SRCAP	Nasal speech	HP:0001611
10847	SRCAP	Congenital posterior urethral valve	HP:0010957
10847	SRCAP	Abnormal fingernail morphology	HP:0001231
10847	SRCAP	Mesocardia	HP:0011599
10847	SRCAP	High pitched voice	HP:0001620
10847	SRCAP	Short neck	HP:0000470
10847	SRCAP	Abnormality of cardiovascular system morphology	HP:0030680
10847	SRCAP	Epididymal cyst	HP:0030424
10847	SRCAP	Enlarged joints	HP:0003037
10847	SRCAP	Atrial septal defect	HP:0001631
10847	SRCAP	Intellectual disability	HP:0001249
10847	SRCAP	Short stature	HP:0004322
10847	SRCAP	Constipation	HP:0002019
10847	SRCAP	Posteriorly rotated ears	HP:0000358
10847	SRCAP	Strabismus	HP:0000486
10847	SRCAP	Intrauterine growth retardation	HP:0001511
10847	SRCAP	Malabsorption	HP:0002024
10847	SRCAP	Thin vermilion border	HP:0000233
10847	SRCAP	Deeply set eye	HP:0000490
10847	SRCAP	Joint stiffness	HP:0001387
10847	SRCAP	Joint laxity	HP:0001388
10847	SRCAP	Global developmental delay	HP:0001263
10847	SRCAP	Hirsutism	HP:0001007
10847	SRCAP	Clinodactyly of the 5th finger	HP:0004209
10847	SRCAP	Low posterior hairline	HP:0002162
10847	SRCAP	Trigonocephaly	HP:0000243
10847	SRCAP	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
10847	SRCAP	Neurological speech impairment	HP:0002167
10847	SRCAP	Nephrocalcinosis	HP:0000121
10847	SRCAP	Telecanthus	HP:0000506
10847	SRCAP	Short clavicles	HP:0000894
10847	SRCAP	Hydronephrosis	HP:0000126
27232	GNMT	Hepatomegaly	HP:0002240
27232	GNMT	Hypermethioninemia	HP:0003235
27232	GNMT	Autosomal recessive inheritance	HP:0000007
27232	GNMT	Elevated hepatic transaminase	HP:0002910
2657	GDF1	Brachydactyly	HP:0001156
2657	GDF1	Transposition of the great arteries	HP:0001669
2657	GDF1	Autosomal dominant inheritance	HP:0000006
2657	GDF1	Autosomal recessive inheritance	HP:0000007
2657	GDF1	Pulmonary artery atresia	HP:0004935
2657	GDF1	Proptosis	HP:0000520
2657	GDF1	Complete atrioventricular canal defect	HP:0001674
2657	GDF1	Dolichocephaly	HP:0000268
2657	GDF1	Abdominal situs ambiguus	HP:0031565
2657	GDF1	Right atrial isomerism	HP:0011536
2657	GDF1	Coarctation of aorta	HP:0001680
2657	GDF1	Broad forehead	HP:0000337
2657	GDF1	Asplenia	HP:0001746
2657	GDF1	Polysplenia	HP:0001748
2657	GDF1	Secundum atrial septal defect	HP:0001684
2657	GDF1	Single ventricle	HP:0001750
2657	GDF1	Inguinal hernia	HP:0000023
2657	GDF1	Aortopulmonary collateral arteries	HP:0031834
2657	GDF1	Left ventricular outflow tract obstruction	HP:0032092
2657	GDF1	Cryptorchidism	HP:0000028
2657	GDF1	Ventricular septal defect	HP:0001629
2657	GDF1	Atrial septal defect	HP:0001631
2657	GDF1	Situs inversus totalis	HP:0001696
2657	GDF1	Underdeveloped supraorbital ridges	HP:0009891
2657	GDF1	Tetralogy of Fallot	HP:0001636
2657	GDF1	Intrauterine growth retardation	HP:0001511
2657	GDF1	Total anomalous pulmonary venous return	HP:0005160
2657	GDF1	Thin vermilion border	HP:0000233
2657	GDF1	Pulmonic stenosis	HP:0001642
2657	GDF1	Common atrium	HP:0011565
2657	GDF1	Abnormal nasal morphology	HP:0005105
2657	GDF1	Clinodactyly of the 5th finger	HP:0004209
2657	GDF1	Preauricular pit	HP:0004467
2657	GDF1	Right aortic arch	HP:0012020
2657	GDF1	Abnormal lung lobation	HP:0002101
2657	GDF1	Double outlet right ventricle	HP:0001719
2657	GDF1	Hypoplastic pulmonary veins	HP:0005304
2657	GDF1	Agenesis of corpus callosum	HP:0001274
2658	GDF2	Portal hypertension	HP:0001409
2658	GDF2	Amblyopia	HP:0000646
2658	GDF2	Autosomal dominant inheritance	HP:0000006
2658	GDF2	Venous thrombosis	HP:0004936
2658	GDF2	Intestinal polyposis	HP:0200008
2658	GDF2	Conjunctival telangiectasia	HP:0000524
2658	GDF2	Microcytic anemia	HP:0001935
2658	GDF2	Retinal telangiectasia	HP:0007763
2658	GDF2	Nephrolithiasis	HP:0000787
2658	GDF2	Hematuria	HP:0000790
2658	GDF2	Transient ischemic attack	HP:0002326
2658	GDF2	Visceral angiomatosis	HP:0100761
2658	GDF2	Cavernous hemangioma	HP:0001048
2658	GDF2	Subarachnoid hemorrhage	HP:0002138
2658	GDF2	Migraine	HP:0002076
2658	GDF2	Pulmonary embolism	HP:0002204
2658	GDF2	Elevated hepatic transaminase	HP:0002910
2658	GDF2	Seizures	HP:0001250
2658	GDF2	Congestive heart failure	HP:0001635
2658	GDF2	Epistaxis	HP:0000421
2658	GDF2	Telangiectasia of the skin	HP:0100585
2658	GDF2	Pulmonary arterial hypertension	HP:0002092
2658	GDF2	Peripheral arteriovenous fistula	HP:0100784
2658	GDF2	Telangiectasia	HP:0001009
2658	GDF2	Cirrhosis	HP:0001394
2658	GDF2	Spontaneous, recurrent epistaxis	HP:0004406
2658	GDF2	Hepatic failure	HP:0001399
2658	GDF2	Esophageal varix	HP:0002040
2658	GDF2	Cholelithiasis	HP:0001081
2658	GDF2	Hemoptysis	HP:0002105
2658	GDF2	Cholecystitis	HP:0001082
2658	GDF2	Spontaneous hematomas	HP:0007420
2658	GDF2	Cerebral hemorrhage	HP:0001342
2658	GDF2	Gastrointestinal hemorrhage	HP:0002239
27235	COQ2	Gaze-evoked nystagmus	HP:0000640
27235	COQ2	Ragged-red muscle fibers	HP:0003200
27235	COQ2	Orofacial dyskinesia	HP:0002310
27235	COQ2	Autosomal recessive inheritance	HP:0000007
27235	COQ2	Rigidity	HP:0002063
27235	COQ2	Resting tremor	HP:0002322
27235	COQ2	Gait ataxia	HP:0002066
27235	COQ2	Encephalopathy	HP:0001298
27235	COQ2	Bradykinesia	HP:0002067
27235	COQ2	Parkinsonism	HP:0001300
27235	COQ2	Neuromuscular dysphagia	HP:0002068
27235	COQ2	Limb ataxia	HP:0002070
27235	COQ2	Sensorineural hearing impairment	HP:0000407
27235	COQ2	Progressive cerebellar ataxia	HP:0002073
27235	COQ2	Raynaud phenomenon	HP:0030880
27235	COQ2	Elevated serum creatine kinase	HP:0003236
27235	COQ2	Central sleep apnea	HP:0010536
27235	COQ2	Hypergonadotropic hypogonadism	HP:0000815
27235	COQ2	Specific learning disability	HP:0001328
27235	COQ2	Downbeat nystagmus	HP:0010545
27235	COQ2	Frequent falls	HP:0002359
27235	COQ2	Lactic acidosis	HP:0003128
27235	COQ2	Visual loss	HP:0000572
27235	COQ2	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
27235	COQ2	Abnormal rapid eye movement sleep	HP:0002494
27235	COQ2	Female anorgasmia	HP:0030015
27235	COQ2	Stridor	HP:0010307
27235	COQ2	Recurrent myoglobinuria	HP:0003652
27235	COQ2	Autonomic erectile dysfunction	HP:0008652
27235	COQ2	Depressivity	HP:0000716
27235	COQ2	Dysphonia	HP:0001618
27235	COQ2	Pancytopenia	HP:0001876
27235	COQ2	Broad-based gait	HP:0002136
27235	COQ2	Abnormal pyramidal sign	HP:0007256
27235	COQ2	Onset	HP:0003674
27235	COQ2	Fatigue	HP:0012378
27235	COQ2	Autonomic bladder dysfunction	HP:0005341
27235	COQ2	Glomerulosclerosis	HP:0000096
27235	COQ2	Intellectual disability	HP:0001249
27235	COQ2	Axial dystonia	HP:0002530
27235	COQ2	Seizures	HP:0001250
27235	COQ2	Anxiety	HP:0000739
27235	COQ2	Constipation	HP:0002019
27235	COQ2	Ataxia	HP:0001251
27235	COQ2	Nephrotic syndrome	HP:0000100
27235	COQ2	Apathy	HP:0000741
27235	COQ2	Hypertrophic cardiomyopathy	HP:0001639
27235	COQ2	Dysarthria	HP:0001260
27235	COQ2	Anemia	HP:0001903
27235	COQ2	Abnormal brain FDG positron emission tomography	HP:0012658
27235	COQ2	Camptocormia	HP:0100595
27235	COQ2	Motor delay	HP:0001270
27235	COQ2	Hepatic failure	HP:0001399
27235	COQ2	Cerebellar atrophy	HP:0001272
27235	COQ2	Scanning speech	HP:0002168
27235	COQ2	Progressive muscle weakness	HP:0003323
27235	COQ2	Postural instability	HP:0002172
27235	COQ2	Postural tremor	HP:0002174
27235	COQ2	Orthostatic syncope	HP:0012670
27235	COQ2	Rod-cone dystrophy	HP:0000510
27235	COQ2	Nystagmus	HP:0000639
2660	MSTN	Skeletal muscle hypertrophy	HP:0003712
2660	MSTN	Autosomal recessive inheritance	HP:0000007
2661	GDF9	Elevated circulating luteinizing hormone level	HP:0011969
2661	GDF9	Primary amenorrhea	HP:0000786
2661	GDF9	Elevated circulating follicle stimulating hormone level	HP:0008232
27238	GPKOW	Limitation of joint mobility	HP:0001376
27238	GPKOW	Aplasia/Hypoplasia of the cerebellum	HP:0007360
27238	GPKOW	Blepharophimosis	HP:0000581
27238	GPKOW	Renal hypoplasia/aplasia	HP:0008678
27238	GPKOW	Abnormality of the diencephalon	HP:0010662
27238	GPKOW	Intrauterine growth retardation	HP:0001511
27238	GPKOW	Cerebral cortical atrophy	HP:0002120
27238	GPKOW	Deeply set eye	HP:0000490
27238	GPKOW	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
27238	GPKOW	Camptodactyly of finger	HP:0100490
27238	GPKOW	Multiple joint contractures	HP:0002828
27238	GPKOW	Aplasia/Hypoplasia of the lungs	HP:0006703
27238	GPKOW	Holoprosencephaly	HP:0001360
27238	GPKOW	Enlarged thorax	HP:0100625
27238	GPKOW	Low-set ears	HP:0000369
27238	GPKOW	Hydranencephaly	HP:0002324
27238	GPKOW	Sloping forehead	HP:0000340
27238	GPKOW	Abnormal dermatoglyphics	HP:0007477
27238	GPKOW	Short neck	HP:0000470
27238	GPKOW	Decreased fetal movement	HP:0001558
27238	GPKOW	Abnormality of the pleura	HP:0002103
27238	GPKOW	Micrognathia	HP:0000347
27238	GPKOW	Microcephaly	HP:0000252
27238	GPKOW	Adducted thumb	HP:0001181
51816	ADA2	Portal hypertension	HP:0001409
51816	ADA2	Facial palsy	HP:0010628
51816	ADA2	Autosomal dominant inheritance	HP:0000006
51816	ADA2	Autosomal recessive inheritance	HP:0000007
51816	ADA2	Optic atrophy	HP:0000648
51816	ADA2	Headache	HP:0002315
51816	ADA2	Urticarial plaque	HP:0030351
51816	ADA2	Vertigo	HP:0002321
51816	ADA2	Stroke	HP:0001297
51816	ADA2	Chorea	HP:0002072
51816	ADA2	Fever	HP:0001945
51816	ADA2	Migraine	HP:0002076
51816	ADA2	Antiphospholipid antibody positivity	HP:0003613
51816	ADA2	Raynaud phenomenon	HP:0030880
51816	ADA2	Immunodeficiency	HP:0002721
51816	ADA2	Sporadic	HP:0003745
51816	ADA2	Muscle weakness	HP:0001324
51816	ADA2	Memory impairment	HP:0002354
51816	ADA2	Hypertension	HP:0000822
51816	ADA2	Leukocytosis	HP:0001974
51816	ADA2	Tremor	HP:0001337
51816	ADA2	Dilatation	HP:0002617
51816	ADA2	Erythema nodosum	HP:0012219
51816	ADA2	Thromboembolic stroke	HP:0001727
51816	ADA2	Arterial stenosis	HP:0100545
51816	ADA2	Hepatomegaly	HP:0002240
51816	ADA2	Behavioral abnormality	HP:0000708
51816	ADA2	Cutis marmorata	HP:0000965
51816	ADA2	Developmental regression	HP:0002376
51816	ADA2	Agitation	HP:0000713
51816	ADA2	Vasculitis	HP:0002633
51816	ADA2	Panniculitis	HP:0012490
51816	ADA2	Aphasia	HP:0002381
51816	ADA2	Splenomegaly	HP:0001744
51816	ADA2	Purpura	HP:0000979
51816	ADA2	Pancytopenia	HP:0001876
51816	ADA2	Dementia	HP:0000726
51816	ADA2	Decreased antibody level in blood	HP:0004313
51816	ADA2	Arthritis	HP:0001369
51816	ADA2	Leukopenia	HP:0001882
51816	ADA2	Ophthalmoplegia	HP:0000602
51816	ADA2	Progressive	HP:0003676
51816	ADA2	Elevated hepatic transaminase	HP:0002910
51816	ADA2	Amaurosis fugax	HP:0100576
51816	ADA2	Seizures	HP:0001250
51816	ADA2	Visual field defect	HP:0001123
51816	ADA2	Ataxia	HP:0001251
51816	ADA2	Thrombocytosis	HP:0001894
51816	ADA2	Peripheral neuropathy	HP:0009830
51816	ADA2	Abdominal pain	HP:0002027
51816	ADA2	Dysarthria	HP:0001260
51816	ADA2	Anemia	HP:0001903
51816	ADA2	Nephropathy	HP:0000112
51816	ADA2	Variable expressivity	HP:0003828
51816	ADA2	Mental deterioration	HP:0001268
51816	ADA2	Hemiparesis	HP:0001269
51816	ADA2	Motor delay	HP:0001270
51816	ADA2	Esophageal varix	HP:0002040
51816	ADA2	Intracranial hemorrhage	HP:0002170
51816	ADA2	Hemiplegia	HP:0002301
51816	ADA2	Myalgia	HP:0003326
51816	ADA2	Lupus anticoagulant	HP:0025343
2664	GDI1	Intellectual disability	HP:0001249
2664	GDI1	Absence seizure	HP:0002121
2664	GDI1	X-linked inheritance	HP:0001417
2664	GDI1	Generalized hypotonia	HP:0001290
2664	GDI1	X-linked dominant inheritance	HP:0001423
2664	GDI1	Global developmental delay	HP:0001263
27241	BBS9	Abnormal electroretinogram	HP:0000512
27241	BBS9	Skeletal muscle atrophy	HP:0003202
27241	BBS9	Multicystic kidney dysplasia	HP:0000003
27241	BBS9	Pigmentary retinopathy	HP:0000580
27241	BBS9	Autosomal recessive inheritance	HP:0000007
27241	BBS9	Hypogonadism	HP:0000135
27241	BBS9	Polydactyly	HP:0010442
27241	BBS9	Postaxial hand polydactyly	HP:0001162
27241	BBS9	Hypoplasia of the ovary	HP:0008724
27241	BBS9	Finger syndactyly	HP:0006101
27241	BBS9	Short neck	HP:0000470
27241	BBS9	Cryptorchidism	HP:0000028
27241	BBS9	Hypoplasia of penis	HP:0008736
27241	BBS9	Intellectual disability	HP:0001249
27241	BBS9	Short stature	HP:0004322
27241	BBS9	Nephrotic syndrome	HP:0000100
27241	BBS9	Obesity	HP:0001513
27241	BBS9	Prominent nasal bridge	HP:0000426
27241	BBS9	Hearing impairment	HP:0000365
27241	BBS9	Downslanted palpebral fissures	HP:0000494
27241	BBS9	Low-set, posteriorly rotated ears	HP:0000368
27241	BBS9	Hepatic fibrosis	HP:0001395
27241	BBS9	Variable expressivity	HP:0003828
27241	BBS9	Hypertension	HP:0000822
27241	BBS9	Generalized hirsutism	HP:0002230
27241	BBS9	Neurological speech impairment	HP:0002167
27241	BBS9	Medial flaring of the eyebrow	HP:0010747
27241	BBS9	Rod-cone dystrophy	HP:0000510
27241	BBS9	Nystagmus	HP:0000639
2668	GDNF	Hypercapnia	HP:0012416
2668	GDNF	Feeding difficulties	HP:0011968
2668	GDNF	Hypoxemia	HP:0012418
2668	GDNF	Central hypoventilation	HP:0007110
2668	GDNF	Autosomal dominant inheritance	HP:0000006
2668	GDNF	Sepsis	HP:0100806
2668	GDNF	Aganglionic megacolon	HP:0002251
2668	GDNF	Intestinal polyposis	HP:0200008
2668	GDNF	Hyperhidrosis	HP:0000975
2668	GDNF	Abnormality of temperature regulation	HP:0004370
2668	GDNF	Sensorineural hearing impairment	HP:0000407
2668	GDNF	Abnormality of the mouth	HP:0000153
2668	GDNF	Abnormality of the cardiovascular system	HP:0001626
2668	GDNF	Ganglioneuroblastoma	HP:0006747
2668	GDNF	Adducted thumb	HP:0001181
2668	GDNF	Diarrhea	HP:0002014
2668	GDNF	Intestinal obstruction	HP:0005214
2668	GDNF	Weight loss	HP:0001824
2668	GDNF	Intellectual disability	HP:0001249
2668	GDNF	Nausea and vomiting	HP:0002017
2668	GDNF	Seizures	HP:0001250
2668	GDNF	Short stature	HP:0004322
2668	GDNF	Constipation	HP:0002019
2668	GDNF	Muscular hypotonia	HP:0001252
2668	GDNF	Posteriorly rotated ears	HP:0000358
2668	GDNF	Hypoventilation	HP:0002791
2668	GDNF	Abdominal pain	HP:0002027
2668	GDNF	Respiratory insufficiency	HP:0002093
2668	GDNF	Downslanted palpebral fissures	HP:0000494
2668	GDNF	Low-set ears	HP:0000369
2668	GDNF	Apnea	HP:0002104
2668	GDNF	Failure to thrive in infancy	HP:0001531
2668	GDNF	Ganglioneuroma	HP:0003005
2668	GDNF	Cognitive impairment	HP:0100543
2668	GDNF	Neoplasm of the thyroid gland	HP:0100031
27245	AHDC1	Depressed nasal bridge	HP:0005280
27245	AHDC1	Delayed myelination	HP:0012448
27245	AHDC1	Laryngomalacia	HP:0001601
27245	AHDC1	Intellectual disability	HP:0001249
27245	AHDC1	Failure to thrive	HP:0001508
27245	AHDC1	Upslanted palpebral fissure	HP:0000582
27245	AHDC1	Autosomal dominant inheritance	HP:0000006
27245	AHDC1	Retrocerebellar cyst	HP:0006951
27245	AHDC1	Generalized hypotonia	HP:0001290
27245	AHDC1	Downslanted palpebral fissures	HP:0000494
27245	AHDC1	Global developmental delay	HP:0001263
27245	AHDC1	Low-set ears	HP:0000369
27245	AHDC1	Snoring	HP:0025267
27245	AHDC1	Uplifted earlobe	HP:0009909
27245	AHDC1	Esotropia	HP:0000565
27245	AHDC1	Obstructive sleep apnea	HP:0002870
27245	AHDC1	Simplified gyral pattern	HP:0009879
27245	AHDC1	Micrognathia	HP:0000347
27245	AHDC1	Hypertelorism	HP:0000316
27245	AHDC1	Hypoplasia of the corpus callosum	HP:0002079
10861	SLC26A1	Calcium oxalate nephrolithiasis	HP:0008672
10861	SLC26A1	Autosomal recessive inheritance	HP:0000007
10861	SLC26A1	Hyperoxaluria	HP:0003159
10861	SLC26A1	Ureteropelvic junction obstruction	HP:0000074
10861	SLC26A1	Acute kidney injury	HP:0001919
2670	GFAP	Progressive macrocephaly	HP:0004481
2670	GFAP	Seizures	HP:0001250
2670	GFAP	Ataxia	HP:0001251
2670	GFAP	Bulbar signs	HP:0002483
2670	GFAP	Autosomal dominant inheritance	HP:0000006
2670	GFAP	Developmental regression	HP:0002376
2670	GFAP	Spasticity	HP:0001257
2670	GFAP	Infantile onset	HP:0003593
2670	GFAP	Increased CSF protein	HP:0002922
2670	GFAP	Diffuse demyelination of the cerebral white matter	HP:0007162
2670	GFAP	Hydrocephalus	HP:0000238
27247	NFU1	Feeding difficulties	HP:0011968
27247	NFU1	Failure to thrive	HP:0001508
27247	NFU1	Hypertension	HP:0000822
27247	NFU1	Lethargy	HP:0001254
27247	NFU1	Autosomal recessive inheritance	HP:0000007
27247	NFU1	Lactic acidosis	HP:0003128
27247	NFU1	Psychomotor retardation	HP:0025356
27247	NFU1	Pulmonary arterial hypertension	HP:0002092
27247	NFU1	Muscle weakness	HP:0001324
27247	NFU1	Decreased activity of mitochondrial respiratory chain	HP:0008972
27247	NFU1	Respiratory failure	HP:0002878
27247	NFU1	Global developmental delay	HP:0001263
2671	GFER	Reduced tendon reflexes	HP:0001315
2671	GFER	Infantile axial hypotonia	HP:0009062
2671	GFER	Cataract	HP:0000518
2671	GFER	Developmental cataract	HP:0000519
2671	GFER	Autosomal recessive inheritance	HP:0000007
2671	GFER	Abnormal muscle fiber protein expression	HP:0030089
2671	GFER	Decreased activity of mitochondrial respiratory chain	HP:0008972
2671	GFER	Global developmental delay	HP:0001263
2671	GFER	Rotary nystagmus	HP:0001583
2671	GFER	Decreased serum ferritin	HP:0012343
2671	GFER	Sensorineural hearing impairment	HP:0000407
2671	GFER	Progressive sensorineural hearing impairment	HP:0000408
2671	GFER	Lactic acidosis	HP:0003128
2671	GFER	Ptosis	HP:0000508
2671	GFER	Myopathy	HP:0003198
2671	GFER	Hypoplasia of the corpus callosum	HP:0002079
2672	GFI1	B lymphocytopenia	HP:0010976
2672	GFI1	Neutropenia	HP:0001875
2672	GFI1	Autosomal dominant inheritance	HP:0000006
2672	GFI1	Monocytosis	HP:0012311
2672	GFI1	Acute myeloid leukemia	HP:0004808
2673	GFPT1	Ragged-red muscle fibers	HP:0003200
2673	GFPT1	Skeletal muscle atrophy	HP:0003202
2673	GFPT1	Facial palsy	HP:0010628
2673	GFPT1	Areflexia	HP:0001284
2673	GFPT1	Autosomal recessive inheritance	HP:0000007
2673	GFPT1	Infantile onset	HP:0003593
2673	GFPT1	Generalized hypotonia	HP:0001290
2673	GFPT1	Fatigable weakness	HP:0003473
2673	GFPT1	Long face	HP:0000276
2673	GFPT1	Decreased fetal movement	HP:0001558
2673	GFPT1	Abnormality of the immune system	HP:0002715
2673	GFPT1	Distal muscle weakness	HP:0002460
2673	GFPT1	Elevated serum creatine kinase	HP:0003236
2673	GFPT1	Juvenile onset	HP:0003621
2673	GFPT1	Mandibular prognathia	HP:0000303
2673	GFPT1	Dental malocclusion	HP:0000689
2673	GFPT1	Difficulty walking	HP:0002355
2673	GFPT1	Frequent falls	HP:0002359
2673	GFPT1	Respiratory insufficiency due to muscle weakness	HP:0002747
2673	GFPT1	Easy fatigability	HP:0003388
2673	GFPT1	Gowers sign	HP:0003391
2673	GFPT1	Feeding difficulties	HP:0011968
2673	GFPT1	Muscle spasm	HP:0003394
2673	GFPT1	Generalized weakness of limb muscles	HP:0009028
2673	GFPT1	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
2673	GFPT1	Weak cry	HP:0001612
2673	GFPT1	Muscle fiber tubular inclusions	HP:0100301
2673	GFPT1	Waddling gait	HP:0002515
2673	GFPT1	Neck muscle weakness	HP:0000467
2673	GFPT1	Ophthalmoparesis	HP:0000597
2673	GFPT1	Proximal amyotrophy	HP:0007126
2673	GFPT1	Difficulty running	HP:0009046
2673	GFPT1	High palate	HP:0000218
2673	GFPT1	Scoliosis	HP:0002650
2673	GFPT1	Type 1 muscle fiber predominance	HP:0003803
2673	GFPT1	Dysphagia	HP:0002015
2673	GFPT1	Difficulty climbing stairs	HP:0003551
2673	GFPT1	Nonprogressive	HP:0003680
2673	GFPT1	Type 2 muscle fiber atrophy	HP:0003554
2673	GFPT1	Pes planus	HP:0001763
2673	GFPT1	Strabismus	HP:0000486
2673	GFPT1	Scapular winging	HP:0003691
2673	GFPT1	Dysarthria	HP:0001260
2673	GFPT1	Knee flexion contracture	HP:0006380
2673	GFPT1	Joint laxity	HP:0001388
2673	GFPT1	Decreased size of nerve terminals	HP:0003443
2673	GFPT1	Mildly elevated creatine kinase	HP:0008180
2673	GFPT1	Arthrogryposis multiplex congenita	HP:0002804
2673	GFPT1	Variable expressivity	HP:0003828
2673	GFPT1	Poor head control	HP:0002421
2673	GFPT1	Motor delay	HP:0001270
2673	GFPT1	Lumbar hyperlordosis	HP:0002938
2673	GFPT1	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0030202
2673	GFPT1	Ptosis	HP:0000508
2673	GFPT1	Increased jitter at single fibre EMG	HP:0030205
2673	GFPT1	Limb-girdle muscle weakness	HP:0003325
2673	GFPT1	Myopathy	HP:0003198
2673	GFPT1	Decreased muscle mass	HP:0003199
27249	MMADHC	Spastic ataxia	HP:0002497
27249	MMADHC	Decreased methionine synthase activity	HP:0003524
27249	MMADHC	Behavioral abnormality	HP:0000708
27249	MMADHC	Autosomal recessive inheritance	HP:0000007
27249	MMADHC	Cerebral cortical atrophy	HP:0002120
27249	MMADHC	Gait disturbance	HP:0001288
27249	MMADHC	Decreased adenosylcobalamin	HP:0003145
27249	MMADHC	Infantile onset	HP:0003593
27249	MMADHC	Generalized hypotonia	HP:0001290
27249	MMADHC	Hypomethioninemia	HP:0003658
27249	MMADHC	Decreased methylmalonyl-CoA mutase activity	HP:0003210
27249	MMADHC	Increased mean corpuscular volume	HP:0005518
27249	MMADHC	Pallor	HP:0000980
27249	MMADHC	Decreased methylcobalamin	HP:0003223
27249	MMADHC	Methylmalonic aciduria	HP:0012120
27249	MMADHC	Fatigue	HP:0012378
27249	MMADHC	Methylmalonic acidemia	HP:0002912
27249	MMADHC	Megaloblastic anemia	HP:0001889
27249	MMADHC	Intellectual disability	HP:0001249
27249	MMADHC	Seizures	HP:0001250
27249	MMADHC	Muscular hypotonia	HP:0001252
27249	MMADHC	Failure to thrive	HP:0001508
27249	MMADHC	Lethargy	HP:0001254
27249	MMADHC	Homocystinuria	HP:0002156
27249	MMADHC	Global developmental delay	HP:0001263
27249	MMADHC	Hyperhomocystinemia	HP:0002160
27249	MMADHC	Dystonia	HP:0001332
27249	MMADHC	Anorexia	HP:0002039
27249	MMADHC	Megaloblastic bone marrow	HP:0001980
27249	MMADHC	Nystagmus	HP:0000639
387700	SLC16A12	Microcornea	HP:0000482
387700	SLC16A12	Glycosuria	HP:0003076
387700	SLC16A12	Autosomal dominant inheritance	HP:0000006
387700	SLC16A12	Cataract	HP:0000518
158326	FREM1	Metopic synostosis	HP:0011330
158326	FREM1	Short philtrum	HP:0000322
158326	FREM1	Nasolacrimal duct obstruction	HP:0000579
158326	FREM1	Omphalocele	HP:0001539
158326	FREM1	Autosomal dominant inheritance	HP:0000006
158326	FREM1	Autosomal recessive inheritance	HP:0000007
158326	FREM1	Bifid nasal tip	HP:0000456
158326	FREM1	Short lingual frenulum	HP:0000200
158326	FREM1	Anteriorly placed anus	HP:0001545
158326	FREM1	Abnormality of the kidney	HP:0000077
158326	FREM1	Rectovaginal fistula	HP:0000143
158326	FREM1	Anophthalmia	HP:0000528
158326	FREM1	Prominent supraorbital ridges	HP:0000336
158326	FREM1	Abnormality of the 5th toe	HP:0010322
158326	FREM1	Synophrys	HP:0000664
158326	FREM1	Hypotelorism	HP:0000601
158326	FREM1	Bifid nose	HP:0011803
158326	FREM1	Abnormal respiratory system morphology	HP:0012252
158326	FREM1	Bulbous nose	HP:0000414
158326	FREM1	Abnormal hair pattern	HP:0010720
158326	FREM1	Cryptophthalmos	HP:0001126
158326	FREM1	Renal agenesis	HP:0000104
158326	FREM1	Anal stenosis	HP:0002025
158326	FREM1	Wide nasal bridge	HP:0000431
158326	FREM1	Eyelid coloboma	HP:0000625
158326	FREM1	Trigonocephaly	HP:0000243
158326	FREM1	Microphthalmia	HP:0000568
158326	FREM1	Abnormal hair morphology	HP:0001595
158326	FREM1	Upper eyelid coloboma	HP:0000636
158326	FREM1	Hypertelorism	HP:0000316
158326	FREM1	Microcephaly	HP:0000252
2677	GGCX	Reduced factor X activity	HP:0008321
2677	GGCX	Ecchymosis	HP:0031364
2677	GGCX	Autosomal recessive inheritance	HP:0000007
2677	GGCX	Abnormality of coagulation	HP:0001928
2677	GGCX	Abnormality of the optic nerve	HP:0000587
2677	GGCX	Joint hemorrhage	HP:0005261
2677	GGCX	Cutis laxa	HP:0000973
2677	GGCX	Angioid streaks of the fundus	HP:0001102
2677	GGCX	Dilatation of the cerebral artery	HP:0004944
2677	GGCX	Bruising susceptibility	HP:0000978
2677	GGCX	Reduced factor IX activity	HP:0011858
2677	GGCX	Nyctalopia	HP:0000662
2677	GGCX	Prolonged prothrombin time	HP:0008151
2677	GGCX	Short distal phalanx of finger	HP:0009882
2677	GGCX	Epiphyseal stippling	HP:0010655
2677	GGCX	Papule	HP:0200034
2677	GGCX	Increased number of skin folds	HP:0007522
2677	GGCX	Attenuation of retinal blood vessels	HP:0007843
2677	GGCX	Abnormal bleeding	HP:0001892
2677	GGCX	Epistaxis	HP:0000421
2677	GGCX	Strabismus	HP:0000486
2677	GGCX	Reduced factor VII activity	HP:0008169
2677	GGCX	Absent retinal pigment epithelium	HP:0007980
2677	GGCX	Redundant skin	HP:0001582
2677	GGCX	Short nose	HP:0003196
2677	GGCX	Atherosclerosis	HP:0002621
2677	GGCX	Prolonged partial thromboplastin time	HP:0003645
2677	GGCX	Rod-cone dystrophy	HP:0000510
2678	GGT1	Intellectual disability	HP:0001249
2678	GGT1	Abnormality of metabolism/homeostasis	HP:0001939
2678	GGT1	Autosomal recessive inheritance	HP:0000007
2678	GGT1	Tremor	HP:0001337
2683	B4GALT1	Macrocephaly	HP:0000256
2683	B4GALT1	Elevated serum creatine kinase	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
2688	GH1	Short stature	HP:0004322
2688	GH1	Abnormality of metabolism/homeostasis	HP:0001939
2688	GH1	Severe short stature	HP:0003510
2688	GH1	Autosomal dominant inheritance	HP:0000006
2688	GH1	Autosomal recessive inheritance	HP:0000007
2688	GH1	Pituitary dwarfism	HP:0000839
2688	GH1	Hypoglycemia	HP:0001943
2688	GH1	Growth hormone deficiency	HP:0000824
2688	GH1	Abnormality of the immune system	HP:0002715
2688	GH1	Delayed skeletal maturation	HP:0002750
2688	GH1	Abnormality of the face	HP:0000271
2690	GHR	Postnatal growth retardation	HP:0008897
2690	GHR	Brachydactyly	HP:0001156
2690	GHR	Aplasia/Hypoplasia involving the nose	HP:0009924
2690	GHR	Autosomal dominant inheritance	HP:0000006
2690	GHR	Osteoarthritis	HP:0002758
2690	GHR	Hypohidrosis	HP:0000966
2690	GHR	Autosomal recessive inheritance	HP:0000007
2690	GHR	Prematurely aged appearance	HP:0007495
2690	GHR	Depressed nasal ridge	HP:0000457
2690	GHR	Reduced number of teeth	HP:0009804
2690	GHR	Abnormal facial shape	HP:0001999
2690	GHR	Blue sclerae	HP:0000592
2690	GHR	Decreased serum insulin-like growth factor 1	HP:0030353
2690	GHR	Short long bone	HP:0003026
2690	GHR	Small face	HP:0000274
2690	GHR	Abnormality of the elbow	HP:0009811
2690	GHR	Abnormality of metabolism/homeostasis	HP:0001939
2690	GHR	High pitched voice	HP:0001620
2690	GHR	Hypoglycemia	HP:0001943
2690	GHR	Abnormal joint morphology	HP:0001367
2690	GHR	Midface retrusion	HP:0011800
2690	GHR	Delayed menarche	HP:0012569
2690	GHR	Small pituitary gland	HP:0012506
2690	GHR	Micrognathia	HP:0000347
2690	GHR	High forehead	HP:0000348
2690	GHR	Hypoplasia of penis	HP:0008736
2690	GHR	Hypoplastic nasal bridge	HP:0005281
2690	GHR	Intellectual disability	HP:0001249
2690	GHR	Short stature	HP:0004322
2690	GHR	Limb undergrowth	HP:0009826
2690	GHR	Underdeveloped supraorbital ridges	HP:0009891
2690	GHR	Truncal obesity	HP:0001956
2690	GHR	Short toe	HP:0001831
2690	GHR	Delayed eruption of teeth	HP:0000684
2690	GHR	Microdontia	HP:0000691
2690	GHR	Hypercholesterolemia	HP:0003124
2690	GHR	Severe short stature	HP:0003510
2690	GHR	Motor delay	HP:0001270
2690	GHR	Delayed puberty	HP:0000823
2690	GHR	Growth hormone deficiency	HP:0000824
2690	GHR	Delayed skeletal maturation	HP:0002750
256646	NUTM1	Abnormality of the mediastinum	HP:0045026
256646	NUTM1	Pancreatoblastoma	HP:0100757
256646	NUTM1	Leukemia	HP:0001909
256646	NUTM1	Oropharyngeal squamous cell carcinoma	HP:0012182
256646	NUTM1	Ewing sarcoma	HP:0012254
256646	NUTM1	Neuroblastoma	HP:0003006
256646	NUTM1	Pancreatic squamous cell carcinoma	HP:0012142
2693	GHSR	Postnatal growth retardation	HP:0008897
2693	GHSR	Short stature	HP:0004322
2693	GHSR	Decreased body weight	HP:0004325
2693	GHSR	Autosomal dominant inheritance	HP:0000006
2693	GHSR	Autosomal recessive inheritance	HP:0000007
2693	GHSR	Abdominal pain	HP:0002027
2693	GHSR	Decreased serum insulin-like growth factor 1	HP:0030353
2693	GHSR	Hypoglycemia	HP:0001943
2693	GHSR	Delayed puberty	HP:0000823
2693	GHSR	Growth hormone deficiency	HP:0000824
2693	GHSR	Small pituitary gland	HP:0012506
2693	GHSR	Ketosis	HP:0001946
2693	GHSR	Vomiting	HP:0002013
2693	GHSR	Delayed skeletal maturation	HP:0002750
2694	CBLIF	Megaloblastic anemia	HP:0001889
2694	CBLIF	Sensory impairment	HP:0003474
2694	CBLIF	Absence of intrinsic factor	HP:0005219
2694	CBLIF	Abnormality of metabolism/homeostasis	HP:0001939
2694	CBLIF	Juvenile onset	HP:0003621
2694	CBLIF	Malabsorption of Vitamin B12	HP:0200118
2694	CBLIF	Autosomal recessive inheritance	HP:0000007
2694	CBLIF	Malabsorption	HP:0002024
2694	CBLIF	Paresthesia	HP:0003401
2694	CBLIF	Abnormality of the immune system	HP:0002715
2694	CBLIF	Megaloblastic erythroid hyperplasia	HP:0200143
2694	CBLIF	Increased mean corpuscular volume	HP:0005518
84617	TUBB6	Nonprogressive	HP:0003680
84617	TUBB6	Variable expressivity	HP:0003828
84617	TUBB6	Infantile onset	HP:0003593
84617	TUBB6	Velopharyngeal insufficiency	HP:0000220
84617	TUBB6	Nasal regurgitation	HP:0011469
2697	GJA1	Umbilical hernia	HP:0001537
2697	GJA1	Epidermal acanthosis	HP:0025092
2697	GJA1	Autosomal dominant inheritance	HP:0000006
2697	GJA1	Cataract	HP:0000518
2697	GJA1	Autosomal recessive inheritance	HP:0000007
2697	GJA1	Infantile onset	HP:0003593
2697	GJA1	Broad columella	HP:0010761
2697	GJA1	Hypermelanotic macule	HP:0001034
2697	GJA1	Neurogenic bladder	HP:0000011
2697	GJA1	Abnormality iris morphology	HP:0000525
2697	GJA1	Hypoplastic aortic arch	HP:0012304
2697	GJA1	Large earlobe	HP:0009748
2697	GJA1	Short 5th finger	HP:0009237
2697	GJA1	Hypergranulosis	HP:0025114
2697	GJA1	Erythema	HP:0010783
2697	GJA1	Abnormal cortical bone morphology	HP:0003103
2697	GJA1	Myopia	HP:0000545
2697	GJA1	Abnormal testis morphology	HP:0000035
2697	GJA1	Low hanging columella	HP:0009765
2697	GJA1	Pulmonary arterial hypertension	HP:0002092
2697	GJA1	Patchy sclerosis of finger phalanx	HP:0009772
2697	GJA1	3-4 toe syndactyly	HP:0009779
2697	GJA1	Microphthalmia	HP:0000568
2697	GJA1	Selective tooth agenesis	HP:0001592
2697	GJA1	Alopecia	HP:0001596
2697	GJA1	Abnormality of the nail	HP:0001597
2697	GJA1	Blepharophimosis	HP:0000581
2697	GJA1	Upslanted palpebral fissure	HP:0000582
2697	GJA1	Maternal diabetes	HP:0009800
2697	GJA1	Reduced number of teeth	HP:0009804
2697	GJA1	Mild global developmental delay	HP:0011342
2697	GJA1	Basal ganglia calcification	HP:0002135
2697	GJA1	Hypotelorism	HP:0000601
2697	GJA1	Skeletal dysplasia	HP:0002652
2697	GJA1	Ventricular septal defect	HP:0001629
2697	GJA1	Atrial septal defect	HP:0001631
2697	GJA1	Dry hair	HP:0011359
2697	GJA1	Congestive heart failure	HP:0001635
2697	GJA1	Patent ductus arteriosus	HP:0001643
2697	GJA1	Clinodactyly of the 5th finger	HP:0004209
2697	GJA1	Aortic valve stenosis	HP:0001650
2697	GJA1	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0009843
2697	GJA1	Nail dysplasia	HP:0002164
2697	GJA1	Long nose	HP:0003189
2697	GJA1	Short middle phalanx of the 5th finger	HP:0004220
2697	GJA1	Short nose	HP:0003196
2697	GJA1	Nystagmus	HP:0000639
2697	GJA1	Brachydactyly	HP:0001156
2697	GJA1	Optic atrophy	HP:0000648
2697	GJA1	2-4 toe cutaneous syndactyly	HP:0005768
2697	GJA1	Fifth finger distal phalanx clinodactyly	HP:0005769
2697	GJA1	Camptodactyly of finger	HP:0100490
2697	GJA1	Sparse eyelashes	HP:0000653
2697	GJA1	Coarctation of aorta	HP:0001680
2697	GJA1	Hyperactive deep tendon reflexes	HP:0006801
2697	GJA1	Hypoplasia of dental enamel	HP:0006297
2697	GJA1	Preaxial hand polydactyly	HP:0001177
2697	GJA1	Carious teeth	HP:0000670
2697	GJA1	Tapered finger	HP:0001182
2697	GJA1	Narrow mouth	HP:0000160
2697	GJA1	Depressed nasal bridge	HP:0005280
2697	GJA1	Median cleft lip	HP:0000161
2697	GJA1	Macrodontia of permanent maxillary central incisor	HP:0000675
2697	GJA1	Curly hair	HP:0002212
2697	GJA1	Fine hair	HP:0002213
2697	GJA1	Dental crowding	HP:0000678
2697	GJA1	Taurodontia	HP:0000679
2697	GJA1	Slow-growing hair	HP:0002217
2697	GJA1	Abnormality of dental enamel	HP:0000682
2697	GJA1	Delayed eruption of teeth	HP:0000684
2697	GJA1	Hypoplasia of teeth	HP:0000685
2697	GJA1	Cleft palate	HP:0000175
2697	GJA1	Dental malocclusion	HP:0000689
2697	GJA1	Microdontia	HP:0000691
2697	GJA1	Premature loss of primary teeth	HP:0006323
2697	GJA1	Mitral stenosis	HP:0001718
2697	GJA1	Generalized hirsutism	HP:0002230
2697	GJA1	Delayed eruption of permanent teeth	HP:0000696
2697	GJA1	Broad alveolar ridges	HP:0000187
2697	GJA1	Persistent pupillary membrane	HP:0009917
2697	GJA1	Delayed skeletal maturation	HP:0002750
2697	GJA1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2697	GJA1	Dystrophic fingernails	HP:0008391
2697	GJA1	Abnormality of the nasopharynx	HP:0001739
2697	GJA1	Cleft upper lip	HP:0000204
2697	GJA1	Primum atrial septal defect	HP:0010445
2697	GJA1	Nasal obstruction	HP:0001742
2697	GJA1	Abnormal fingernail morphology	HP:0001231
2697	GJA1	Intellectual disability	HP:0001249
2697	GJA1	Tetraparesis	HP:0002273
2697	GJA1	Short stature	HP:0004322
2697	GJA1	Seizures	HP:0001250
2697	GJA1	Ataxia	HP:0001251
2697	GJA1	Oligogenic inheritance	HP:0010983
2697	GJA1	Thin vermilion border	HP:0000233
2697	GJA1	Spasticity	HP:0001257
2697	GJA1	Toe syndactyly	HP:0001770
2697	GJA1	Dysarthria	HP:0001260
2697	GJA1	Short foot	HP:0001773
2697	GJA1	Large fontanelles	HP:0000239
2697	GJA1	Club-shaped distal femur	HP:0006384
2697	GJA1	Abnormal form of the vertebral bodies	HP:0003312
2697	GJA1	Brachycephaly	HP:0000248
2697	GJA1	Vertebral hyperostosis	HP:0008442
2697	GJA1	Osteopetrosis	HP:0011002
2697	GJA1	Brittle hair	HP:0002299
2697	GJA1	Microcephaly	HP:0000252
2697	GJA1	Abnormality of the thorax	HP:0000765
2697	GJA1	Macrocephaly	HP:0000256
2697	GJA1	Gait disturbance	HP:0001288
2697	GJA1	Spastic paraparesis	HP:0002313
2697	GJA1	Hip dislocation	HP:0002827
2697	GJA1	Fragile nails	HP:0001808
2697	GJA1	Corneal opacity	HP:0007957
2697	GJA1	Coarse facial features	HP:0000280
2697	GJA1	Leukonychia	HP:0001820
2697	GJA1	Epicanthus	HP:0000286
2697	GJA1	Hypoplastic left heart	HP:0004383
2697	GJA1	Weight loss	HP:0001824
2697	GJA1	Short toe	HP:0001831
2697	GJA1	Mitral atresia	HP:0011560
2697	GJA1	Muscle weakness	HP:0001324
2697	GJA1	Mandibular prognathia	HP:0000303
2697	GJA1	High hypermetropia	HP:0008499
2697	GJA1	Diabetes mellitus	HP:0000819
2697	GJA1	Hypertension	HP:0000822
2697	GJA1	Bony paranasal bossing	HP:0004407
2697	GJA1	Hypertelorism	HP:0000316
2697	GJA1	Hyperreflexia	HP:0001347
2697	GJA1	Hypoplasia of the maxilla	HP:0000327
2697	GJA1	Premature loss of teeth	HP:0006480
2697	GJA1	Paraparesis	HP:0002385
2697	GJA1	Cranial hyperostosis	HP:0004437
2697	GJA1	Long philtrum	HP:0000343
2697	GJA1	Facial hyperostosis	HP:0005465
2697	GJA1	Micrognathia	HP:0000347
2697	GJA1	High forehead	HP:0000348
2697	GJA1	Abnormality of chromosome segregation	HP:0002916
2697	GJA1	Inlet ventricular septal defect	HP:0011622
2697	GJA1	Hearing impairment	HP:0000365
2697	GJA1	Low-set ears	HP:0000369
2697	GJA1	Small hand	HP:0200055
2697	GJA1	Abnormality of the pinna	HP:0000377
2697	GJA1	Abnormality of the clavicle	HP:0000889
2697	GJA1	External ear malformation	HP:0008572
2697	GJA1	Short hallux	HP:0010109
2697	GJA1	Abnormal blistering of the skin	HP:0008066
2697	GJA1	Facial palsy	HP:0010628
2697	GJA1	Clinodactyly	HP:0030084
2697	GJA1	Neoplasm of the skin	HP:0008069
2697	GJA1	Sparse hair	HP:0008070
2697	GJA1	Craniofacial hyperostosis	HP:0004493
2697	GJA1	Thin anteverted nares	HP:0004495
2697	GJA1	Conductive hearing impairment	HP:0000405
2697	GJA1	Cubitus valgus	HP:0002967
2697	GJA1	Hypoglycemia	HP:0001943
2697	GJA1	Sensorineural hearing impairment	HP:0000407
2697	GJA1	Mixed hearing impairment	HP:0000410
2697	GJA1	Arrhythmia	HP:0011675
2697	GJA1	Protruding ear	HP:0000411
2697	GJA1	Metaphyseal dysplasia	HP:0100255
2697	GJA1	Abnormal diaphysis morphology	HP:0000940
2697	GJA1	Underdeveloped nasal alae	HP:0000430
2697	GJA1	Wide nasal bridge	HP:0000431
2697	GJA1	Abnormality of the metaphysis	HP:0000944
2697	GJA1	Midsystolic murmur	HP:0031665
2697	GJA1	First degree atrioventricular block	HP:0011705
2697	GJA1	Narrow nasal bridge	HP:0000446
2697	GJA1	Dry skin	HP:0000958
2697	GJA1	Fingernail dysplasia	HP:0100798
2697	GJA1	Cyanosis	HP:0000961
2697	GJA1	Abnormality of the cerebral white matter	HP:0002500
2697	GJA1	Flared metaphysis	HP:0003015
2697	GJA1	Short palpebral fissure	HP:0012745
2697	GJA1	Absent middle phalanx of 5th finger	HP:0009162
2697	GJA1	Palmoplantar hyperkeratosis	HP:0000972
2697	GJA1	Narrow nose	HP:0000460
2697	GJA1	4-5 finger syndactyly	HP:0010705
2697	GJA1	Cerebral calcification	HP:0002514
2697	GJA1	Patchy palmoplantar keratoderma	HP:0005588
2697	GJA1	Finger syndactyly	HP:0006101
2697	GJA1	Palmoplantar keratoderma	HP:0000982
2697	GJA1	Frontal bossing	HP:0002007
2697	GJA1	Abnormality of cardiovascular system morphology	HP:0030680
2697	GJA1	Skin rash	HP:0000988
2697	GJA1	Congenital alopecia totalis	HP:0005597
2697	GJA1	Joint contracture of the 5th finger	HP:0009183
2697	GJA1	Cutaneous photosensitivity	HP:0000992
2697	GJA1	Microcornea	HP:0000482
2697	GJA1	Failure to thrive	HP:0001508
2697	GJA1	Strabismus	HP:0000486
2697	GJA1	Abnormality of skin pigmentation	HP:0001000
2697	GJA1	Deeply set eye	HP:0000490
2697	GJA1	Downslanted palpebral fissures	HP:0000494
2697	GJA1	Non-midline cleft lip	HP:0100335
2697	GJA1	Hypotrichosis	HP:0001006
2697	GJA1	Glaucoma	HP:0000501
2697	GJA1	Broad long bones	HP:0005622
2697	GJA1	Visual impairment	HP:0000505
2697	GJA1	Telecanthus	HP:0000506
2697	GJA1	Madelung deformity	HP:0003067
10891	PPARGC1A	Nausea and vomiting	HP:0002017
10891	PPARGC1A	Skeletal muscle atrophy	HP:0003202
10891	PPARGC1A	Muscle spasm	HP:0003394
10891	PPARGC1A	Anxiety	HP:0000739
10891	PPARGC1A	Neurodegeneration	HP:0002180
10891	PPARGC1A	Emotional lability	HP:0000712
10891	PPARGC1A	Spasticity	HP:0001257
10891	PPARGC1A	Agitation	HP:0000713
10891	PPARGC1A	Depressivity	HP:0000716
10891	PPARGC1A	Paralysis	HP:0003470
10891	PPARGC1A	Dyspnea	HP:0002094
10891	PPARGC1A	Laryngospasm	HP:0025425
10891	PPARGC1A	Fatigable weakness of swallowing muscles	HP:0030195
10891	PPARGC1A	Pain	HP:0012531
10891	PPARGC1A	Fatigable weakness of respiratory muscles	HP:0030196
10891	PPARGC1A	Xerostomia	HP:0000217
10891	PPARGC1A	Amyotrophic lateral sclerosis	HP:0007354
10891	PPARGC1A	Fatigue	HP:0012378
10891	PPARGC1A	Generalized muscle weakness	HP:0003324
10891	PPARGC1A	Respiratory failure	HP:0002878
2700	GJA3	Autosomal dominant inheritance	HP:0000006
2700	GJA3	Zonular cataract	HP:0010920
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 nasolacrimal system morphology	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	Recurrent bacterial infections	HP:0002718
10892	MALT1	Delayed skeletal maturation	HP:0002750
10892	MALT1	B-cell lymphoma	HP:0012191
2702	GJA5	Brachydactyly	HP:0001156
2702	GJA5	Transposition of the great arteries	HP:0001669
2702	GJA5	Autosomal dominant inheritance	HP:0000006
2702	GJA5	Atrial standstill	HP:0025478
2702	GJA5	Broad hallux	HP:0010055
2702	GJA5	Proptosis	HP:0000520
2702	GJA5	Dolichocephaly	HP:0000268
2702	GJA5	Autism	HP:0000717
2702	GJA5	Schizophrenia	HP:0100753
2702	GJA5	Coarctation of aorta	HP:0001680
2702	GJA5	Broad forehead	HP:0000337
2702	GJA5	Frontal bossing	HP:0002007
2702	GJA5	Cryptorchidism	HP:0000028
2702	GJA5	Bulbous nose	HP:0000414
2702	GJA5	Intellectual disability	HP:0001249
2702	GJA5	Sporadic	HP:0003745
2702	GJA5	Underdeveloped supraorbital ridges	HP:0009891
2702	GJA5	Tetralogy of Fallot	HP:0001636
2702	GJA5	Intrauterine growth retardation	HP:0001511
2702	GJA5	Broad thumb	HP:0011304
2702	GJA5	Thin vermilion border	HP:0000233
2702	GJA5	Deeply set eye	HP:0000490
2702	GJA5	Endocardial fibroelastosis	HP:0001706
2702	GJA5	Patent ductus arteriosus	HP:0001643
2702	GJA5	Premature atrial contractions	HP:0006699
2702	GJA5	Abnormal nasal morphology	HP:0005105
2702	GJA5	Clinodactyly of the 5th finger	HP:0004209
2702	GJA5	Preauricular pit	HP:0004467
2702	GJA5	Incomplete penetrance	HP:0003829
2702	GJA5	Atrial fibrillation	HP:0005110
2702	GJA5	First degree atrioventricular block	HP:0011705
2702	GJA5	Microcephaly	HP:0000252
2702	GJA5	Truncus arteriosus	HP:0001660
2702	GJA5	Atrial cardiomyopathy	HP:0200127
2703	GJA8	Transposition of the great arteries	HP:0001669
2703	GJA8	Pulverulent cataract	HP:0010693
2703	GJA8	Autosomal dominant inheritance	HP:0000006
2703	GJA8	Cataract	HP:0000518
2703	GJA8	Broad hallux	HP:0010055
2703	GJA8	Developmental cataract	HP:0000519
2703	GJA8	Autism	HP:0000717
2703	GJA8	Schizophrenia	HP:0100753
2703	GJA8	Coarctation of aorta	HP:0001680
2703	GJA8	Corneal opacity	HP:0007957
2703	GJA8	Frontal bossing	HP:0002007
2703	GJA8	Bulbous nose	HP:0000414
2703	GJA8	Intellectual disability	HP:0001249
2703	GJA8	Sporadic	HP:0003745
2703	GJA8	Myopia	HP:0000545
2703	GJA8	Microcornea	HP:0000482
2703	GJA8	Iris coloboma	HP:0000612
2703	GJA8	Broad thumb	HP:0011304
2703	GJA8	Deeply set eye	HP:0000490
2703	GJA8	Patent ductus arteriosus	HP:0001643
2703	GJA8	Corneal dystrophy	HP:0001131
2703	GJA8	Posterior subcapsular cataract	HP:0007787
2703	GJA8	Nuclear cataract	HP:0100018
2703	GJA8	Incomplete penetrance	HP:0003829
2703	GJA8	Microcephaly	HP:0000252
2703	GJA8	Truncus arteriosus	HP:0001660
2703	GJA8	Nystagmus	HP:0000639
387733	IFITM5	Short stature	HP:0004322
387733	IFITM5	Abnormality of the dentition	HP:0000164
387733	IFITM5	Recurrent fractures	HP:0002757
387733	IFITM5	Triangular face	HP:0000325
387733	IFITM5	Autosomal dominant inheritance	HP:0000006
387733	IFITM5	Vertebral wedging	HP:0008422
387733	IFITM5	Joint hypermobility	HP:0001382
387733	IFITM5	Osteopenia	HP:0000938
387733	IFITM5	Biconcave vertebral bodies	HP:0004586
387733	IFITM5	Blue sclerae	HP:0000592
387733	IFITM5	Abnormality of metabolism/homeostasis	HP:0001939
387733	IFITM5	Abnormality of pelvic girdle bone morphology	HP:0002644
387733	IFITM5	Wormian bones	HP:0002645
387733	IFITM5	Limited pronation/supination of forearm	HP:0006394
387733	IFITM5	Hyperplastic callus formation	HP:0030268
387733	IFITM5	Anterior radial head dislocation	HP:0005084
387733	IFITM5	Abnormality of the eye	HP:0000478
387733	IFITM5	Platyspondyly	HP:0000926
387733	IFITM5	Dentinogenesis imperfecta	HP:0000703
2705	GJB1	Saccadic smooth pursuit	HP:0001152
2705	GJB1	Areflexia	HP:0001284
2705	GJB1	Incoordination	HP:0002311
2705	GJB1	Gait disturbance	HP:0001288
2705	GJB1	Clumsiness	HP:0002312
2705	GJB1	X-linked recessive inheritance	HP:0001419
2705	GJB1	Unsteady gait	HP:0002317
2705	GJB1	Axonal degeneration	HP:0040078
2705	GJB1	X-linked dominant inheritance	HP:0001423
2705	GJB1	Toe walking	HP:0040083
2705	GJB1	Limb ataxia	HP:0002070
2705	GJB1	Sensorineural hearing impairment	HP:0000407
2705	GJB1	Progressive cerebellar ataxia	HP:0002073
2705	GJB1	Dysdiadochokinesis	HP:0002075
2705	GJB1	Distal muscle weakness	HP:0002460
2705	GJB1	Dysmetria	HP:0001310
2705	GJB1	Babinski sign	HP:0003487
2705	GJB1	Language impairment	HP:0002463
2705	GJB1	Impaired pain sensation	HP:0007328
2705	GJB1	Spastic dysarthria	HP:0002464
2705	GJB1	Intention tremor	HP:0002080
2705	GJB1	Decreased/absent ankle reflexes	HP:0200101
2705	GJB1	Difficulty walking	HP:0002355
2705	GJB1	Decreased number of peripheral myelinated nerve fibers	HP:0003380
2705	GJB1	Onion bulb formation	HP:0003383
2705	GJB1	Frequent falls	HP:0002359
2705	GJB1	Tremor	HP:0001337
2705	GJB1	Abnormal nerve conduction velocity	HP:0040129
2705	GJB1	Foot dorsiflexor weakness	HP:0009027
2705	GJB1	Abnormality of the cerebral white matter	HP:0002500
2705	GJB1	Spinocerebellar tract degeneration	HP:0002503
2705	GJB1	Cerebellar vermis atrophy	HP:0006855
2705	GJB1	Progressive gait ataxia	HP:0007240
2705	GJB1	Paraparesis	HP:0002385
2705	GJB1	Scoliosis	HP:0002650
2705	GJB1	Lower limb hyperreflexia	HP:0002395
2705	GJB1	Slow progression	HP:0003677
2705	GJB1	Dysphagia	HP:0002015
2705	GJB1	Pes cavus	HP:0001761
2705	GJB1	Ataxia	HP:0001251
2705	GJB1	Sensorimotor neuropathy	HP:0007141
2705	GJB1	Peripheral neuropathy	HP:0009830
2705	GJB1	Decreased motor nerve conduction velocity	HP:0003431
2705	GJB1	Achilles tendon contracture	HP:0001771
2705	GJB1	Dysarthria	HP:0001260
2705	GJB1	Distal amyotrophy	HP:0003693
2705	GJB1	Hearing impairment	HP:0000365
2705	GJB1	Distal upper limb amyotrophy	HP:0007149
2705	GJB1	Excessive daytime somnolence	HP:0001262
2705	GJB1	Distal lower limb amyotrophy	HP:0008944
2705	GJB1	Hyporeflexia	HP:0001265
2705	GJB1	Incomplete penetrance	HP:0003829
2705	GJB1	EMG: neuropathic changes	HP:0003445
2705	GJB1	Motor delay	HP:0001270
2705	GJB1	Axonal loss	HP:0003447
2705	GJB1	Cerebellar atrophy	HP:0001272
2705	GJB1	Distal sensory impairment	HP:0002936
2705	GJB1	Kyphosis	HP:0002808
2705	GJB1	Motor aphasia	HP:0002427
2705	GJB1	Sensory neuropathy	HP:0000763
2705	GJB1	Peripheral axonal degeneration	HP:0000764
2705	GJB1	Nystagmus	HP:0000639
2706	GJB2	Ichthyosis	HP:0008064
2706	GJB2	Urticaria	HP:0001025
2706	GJB2	Corneal ulceration	HP:0012804
2706	GJB2	Autosomal dominant inheritance	HP:0000006
2706	GJB2	Sparse hair	HP:0008070
2706	GJB2	Autosomal recessive inheritance	HP:0000007
2706	GJB2	Hypoplastic toenails	HP:0001800
2706	GJB2	Infantile onset	HP:0003593
2706	GJB2	X-linked recessive inheritance	HP:0001419
2706	GJB2	Hypoplastic fingernail	HP:0001804
2706	GJB2	Sparse eyelashes	HP:0000653
2706	GJB2	Progressive visual loss	HP:0000529
2706	GJB2	Dystrophic toenail	HP:0001810
2706	GJB2	Conductive hearing impairment	HP:0000405
2706	GJB2	Hemiplegia/hemiparesis	HP:0004374
2706	GJB2	Sparse and thin eyebrow	HP:0000535
2706	GJB2	Sensorineural hearing impairment	HP:0000407
2706	GJB2	Progressive sensorineural hearing impairment	HP:0000408
2706	GJB2	Cryptorchidism	HP:0000028
2706	GJB2	Leukonychia	HP:0001820
2706	GJB2	Recurrent bacterial skin infections	HP:0005406
2706	GJB2	Carious teeth	HP:0000670
2706	GJB2	Erythema	HP:0010783
2706	GJB2	Reduced tendon reflexes	HP:0001315
2706	GJB2	Autoamputation of digits	HP:0007460
2706	GJB2	Fine hair	HP:0002213
2706	GJB2	Cerebellar hypoplasia	HP:0001321
2706	GJB2	Honeycomb palmoplantar keratoderma	HP:0007465
2706	GJB2	Elbow flexion contracture	HP:0002987
2706	GJB2	Squamous cell carcinoma	HP:0002860
2706	GJB2	Delayed eruption of teeth	HP:0000684
2706	GJB2	Hypogonadotrophic hypogonadism	HP:0000044
2706	GJB2	Amniotic constriction ring	HP:0009775
2706	GJB2	Cleft palate	HP:0000175
2706	GJB2	Corneal scarring	HP:0000559
2706	GJB2	Absent eyelashes	HP:0000561
2706	GJB2	Oral leukoplakia	HP:0002745
2706	GJB2	Alopecia	HP:0001596
2706	GJB2	Macule	HP:0012733
2706	GJB2	Delayed skeletal maturation	HP:0002750
2706	GJB2	Cognitive impairment	HP:0100543
2706	GJB2	Hyperkeratosis	HP:0000962
2706	GJB2	Abnormal toenail morphology	HP:0008388
2706	GJB2	Hypohidrosis	HP:0000966
2706	GJB2	Dystrophic fingernails	HP:0008391
2706	GJB2	Scarring alopecia of scalp	HP:0004552
2706	GJB2	Keratoconjunctivitis sicca	HP:0001097
2706	GJB2	Subcutaneous nodule	HP:0001482
2706	GJB2	Aganglionic megacolon	HP:0002251
2706	GJB2	Palmoplantar hyperkeratosis	HP:0000972
2706	GJB2	Severe global developmental delay	HP:0011344
2706	GJB2	Punctate keratitis	HP:0011859
2706	GJB2	Squamous cell carcinoma of the skin	HP:0006739
2706	GJB2	Nail dystrophy	HP:0008404
2706	GJB2	Palmoplantar keratoderma	HP:0000982
2706	GJB2	Corneal erosion	HP:0200020
2706	GJB2	Vestibular dysfunction	HP:0001751
2706	GJB2	Arthritis	HP:0001369
2706	GJB2	Generalized hyperkeratosis	HP:0005595
2706	GJB2	Furrowed tongue	HP:0000221
2706	GJB2	Abnormality of the spinal cord	HP:0002143
2706	GJB2	Pes cavus	HP:0001761
2706	GJB2	Intellectual disability	HP:0001249
2706	GJB2	Papule	HP:0200034
2706	GJB2	Short stature	HP:0004322
2706	GJB2	Abnormality of corneal stroma	HP:0011492
2706	GJB2	Photophobia	HP:0000613
2706	GJB2	Corneal neovascularization	HP:0011496
2706	GJB2	Trichiasis	HP:0001128
2706	GJB2	Digenic inheritance	HP:0010984
2706	GJB2	Skin ulcer	HP:0200042
2706	GJB2	Aplasia/Hypoplasia of the eyebrow	HP:0100840
2706	GJB2	Blindness	HP:0000618
2706	GJB2	Dilatated internal auditory canal	HP:0004458
2706	GJB2	Keratitis	HP:0000491
2706	GJB2	Knee flexion contracture	HP:0006380
2706	GJB2	Osteolysis	HP:0002797
2706	GJB2	Hearing impairment	HP:0000365
2706	GJB2	Self-injurious behavior	HP:0100716
2706	GJB2	Recurrent corneal erosions	HP:0000495
2706	GJB2	Abnormal eyelash morphology	HP:0000499
2706	GJB2	Nail dysplasia	HP:0002164
2706	GJB2	Erythroderma	HP:0001019
2706	GJB2	Stapes ankylosis	HP:0000381
84627	ZNF469	Macrocephaly	HP:0000256
84627	ZNF469	Autosomal recessive inheritance	HP:0000007
84627	ZNF469	Gait disturbance	HP:0001288
84627	ZNF469	Arachnodactyly	HP:0001166
84627	ZNF469	Conductive hearing impairment	HP:0000405
84627	ZNF469	Sensorineural hearing impairment	HP:0000407
84627	ZNF469	Retinal detachment	HP:0000541
84627	ZNF469	Hallux valgus	HP:0001822
84627	ZNF469	Epicanthus	HP:0000286
84627	ZNF469	Abnormality of hair pigmentation	HP:0009887
84627	ZNF469	Myopia	HP:0000545
84627	ZNF469	Abnormality of the dentition	HP:0000164
84627	ZNF469	Neonatal hypotonia	HP:0001319
84627	ZNF469	Abnormality of epiphysis morphology	HP:0005930
84627	ZNF469	Osteoporosis	HP:0000939
84627	ZNF469	Cleft palate	HP:0000175
84627	ZNF469	Corneal scarring	HP:0000559
84627	ZNF469	Keratoconus	HP:0000563
84627	ZNF469	Hernia	HP:0100790
84627	ZNF469	Visual loss	HP:0000572
84627	ZNF469	Joint hyperflexibility	HP:0005692
84627	ZNF469	Dentinogenesis imperfecta	HP:0000703
84627	ZNF469	Hyperextensible skin	HP:0000974
84627	ZNF469	Blue sclerae	HP:0000592
84627	ZNF469	Decreased corneal thickness	HP:0100689
84627	ZNF469	Soft skin	HP:0000977
84627	ZNF469	Bruising susceptibility	HP:0000978
84627	ZNF469	Corneal erosion	HP:0200020
84627	ZNF469	Scoliosis	HP:0002650
84627	ZNF469	Atypical scarring of skin	HP:0000987
84627	ZNF469	Palmoplantar cutis laxa	HP:0007517
84627	ZNF469	Congenital hip dislocation	HP:0001374
84627	ZNF469	Keratoglobus	HP:0001119
84627	ZNF469	Camptodactyly	HP:0012385
84627	ZNF469	Molluscoid pseudotumors	HP:0000993
84627	ZNF469	Mitral valve prolapse	HP:0001634
84627	ZNF469	Pes planus	HP:0001763
84627	ZNF469	Increased susceptibility to fractures	HP:0002659
84627	ZNF469	Spondylolisthesis	HP:0003302
84627	ZNF469	Hip dysplasia	HP:0001385
84627	ZNF469	Pulmonic stenosis	HP:0001642
84627	ZNF469	Corneal dystrophy	HP:0001131
84627	ZNF469	Joint laxity	HP:0001388
84627	ZNF469	Hearing impairment	HP:0000365
84627	ZNF469	Disproportionate tall stature	HP:0001519
84627	ZNF469	Glaucoma	HP:0000501
84627	ZNF469	Red hair	HP:0002297
84627	ZNF469	High myopia	HP:0011003
84627	ZNF469	Myalgia	HP:0003326
2707	GJB3	Abnormal blistering of the skin	HP:0008066
2707	GJB3	Epidermal acanthosis	HP:0025092
2707	GJB3	Brachydactyly	HP:0001156
2707	GJB3	Neoplasm of the skin	HP:0008069
2707	GJB3	Autosomal dominant inheritance	HP:0000006
2707	GJB3	Cataract	HP:0000518
2707	GJB3	Autosomal recessive inheritance	HP:0000007
2707	GJB3	Infantile onset	HP:0003593
2707	GJB3	Hypermelanotic macule	HP:0001034
2707	GJB3	Patchy palmoplantar keratoderma	HP:0005588
2707	GJB3	Corneal opacity	HP:0007957
2707	GJB3	Vestibular dysfunction	HP:0001751
2707	GJB3	Sensorineural hearing impairment	HP:0000407
2707	GJB3	Abnormality of cardiovascular system morphology	HP:0030680
2707	GJB3	Hypergranulosis	HP:0025114
2707	GJB3	Generalized hyperkeratosis	HP:0005595
2707	GJB3	Protruding ear	HP:0000411
2707	GJB3	Skin rash	HP:0000988
2707	GJB3	Tapered finger	HP:0001182
2707	GJB3	Erythema	HP:0010783
2707	GJB3	Weight loss	HP:0001824
2707	GJB3	Cutaneous photosensitivity	HP:0000992
2707	GJB3	Intellectual disability	HP:0001249
2707	GJB3	Short stature	HP:0004322
2707	GJB3	Abnormal testis morphology	HP:0000035
2707	GJB3	Digenic inheritance	HP:0010984
2707	GJB3	Hearing impairment	HP:0000365
2707	GJB3	High-frequency hearing impairment	HP:0005101
2707	GJB3	Diabetes mellitus	HP:0000819
2707	GJB3	Glaucoma	HP:0000501
2707	GJB3	Generalized hirsutism	HP:0002230
2707	GJB3	Microcephaly	HP:0000252
2707	GJB3	Alopecia	HP:0001596
2707	GJB3	Abnormality of the nail	HP:0001597
2707	GJB3	Dry skin	HP:0000958
2710	GK	Pathologic fracture	HP:0002756
2710	GK	Ketoacidosis	HP:0001993
2710	GK	X-linked inheritance	HP:0001417
2710	GK	X-linked recessive inheritance	HP:0001419
2710	GK	Psychomotor retardation	HP:0025356
2710	GK	Episodic vomiting	HP:0002572
2710	GK	Adrenal insufficiency	HP:0000846
2710	GK	Abnormal facial shape	HP:0001999
2710	GK	X-linked dominant inheritance	HP:0001423
2710	GK	Loss of consciousness	HP:0007185
2710	GK	Metabolic acidosis	HP:0001942
2710	GK	Frontal bossing	HP:0002007
2710	GK	Hypoglycemia	HP:0001943
2710	GK	Downturned corners of mouth	HP:0002714
2710	GK	Cryptorchidism	HP:0000028
2710	GK	Intellectual disability	HP:0001249
2710	GK	Short stature	HP:0004322
2710	GK	Seizures	HP:0001250
2710	GK	Strabismus	HP:0000486
2710	GK	Growth delay	HP:0001510
2710	GK	Lethargy	HP:0001254
2710	GK	Muscular dystrophy	HP:0003560
2710	GK	Hypertriglyceridemia	HP:0002155
2710	GK	Coma	HP:0001259
2710	GK	Osteoporosis	HP:0000939
2710	GK	Increased urinary glycerol	HP:0040301
2710	GK	Small for gestational age	HP:0001518
2710	GK	Global developmental delay	HP:0001263
2710	GK	Low-set ears	HP:0000369
2710	GK	Adrenocortical hypoplasia	HP:0008182
2710	GK	Hypertelorism	HP:0000316
2710	GK	Myopathy	HP:0003198
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-onset seizure	HP:0007359
84634	KISS1R	Ichthyosis	HP:0008064
84634	KISS1R	Abnormality of body height	HP:0000002
84634	KISS1R	Gynecomastia	HP:0000771
84634	KISS1R	Absence of pubertal development	HP:0008197
84634	KISS1R	Autosomal dominant inheritance	HP:0000006
84634	KISS1R	Female hypogonadism	HP:0000134
84634	KISS1R	Autosomal recessive inheritance	HP:0000007
84634	KISS1R	Gait disturbance	HP:0001288
84634	KISS1R	Hypoplasia of the uterus	HP:0000013
84634	KISS1R	Decreased fertility	HP:0000144
84634	KISS1R	Primary amenorrhea	HP:0000786
84634	KISS1R	Hypoplasia of the ovary	HP:0008724
84634	KISS1R	Gonadotropin deficiency	HP:0008213
84634	KISS1R	Sensorineural hearing impairment	HP:0000407
84634	KISS1R	Male hypogonadism	HP:0000026
84634	KISS1R	Azoospermia	HP:0000027
84634	KISS1R	Cryptorchidism	HP:0000028
84634	KISS1R	Decreased testicular size	HP:0008734
84634	KISS1R	Erectile abnormalities	HP:0100639
84634	KISS1R	Depressed nasal bridge	HP:0005280
84634	KISS1R	Impotence	HP:0000802
84634	KISS1R	Abnormality of the dentition	HP:0000164
84634	KISS1R	Color vision defect	HP:0000551
84634	KISS1R	Elevated circulating follicle stimulating hormone level	HP:0008232
84634	KISS1R	Osteopenia	HP:0000938
84634	KISS1R	Osteoporosis	HP:0000939
84634	KISS1R	Isosexual precocious puberty	HP:0008236
84634	KISS1R	Hypogonadotrophic hypogonadism	HP:0000044
84634	KISS1R	Muscle weakness	HP:0001324
84634	KISS1R	Cleft palate	HP:0000175
84634	KISS1R	Hypothyroidism	HP:0000821
84634	KISS1R	Micropenis	HP:0000054
84634	KISS1R	Paraplegia	HP:0010550
84634	KISS1R	Delayed puberty	HP:0000823
84634	KISS1R	Bimanual synkinesia	HP:0001335
84634	KISS1R	Sparse body hair	HP:0002231
84634	KISS1R	Tremor	HP:0001337
84634	KISS1R	Hyposmia	HP:0004409
84634	KISS1R	Non-obstructive azoospermia	HP:0011961
84634	KISS1R	Hypertelorism	HP:0000316
84634	KISS1R	Delayed skeletal maturation	HP:0002750
84634	KISS1R	Anterior hypopituitarism	HP:0000830
84634	KISS1R	Dyspareunia	HP:0030016
84634	KISS1R	Elevated circulating luteinizing hormone level	HP:0011969
84634	KISS1R	Increased female libido	HP:0030019
84634	KISS1R	Recurrent fractures	HP:0002757
84634	KISS1R	Eunuchoid habitus	HP:0003782
84634	KISS1R	Abnormality of the voice	HP:0001608
84634	KISS1R	Generalized joint laxity	HP:0002761
84634	KISS1R	Anosmia	HP:0000458
84634	KISS1R	Reduced number of teeth	HP:0009804
84634	KISS1R	Depressivity	HP:0000716
84634	KISS1R	Congenital sensorineural hearing impairment	HP:0008527
84634	KISS1R	Wide intermamillary distance	HP:0006610
84634	KISS1R	Abnormality of cardiovascular system morphology	HP:0030680
84634	KISS1R	Skeletal dysplasia	HP:0002652
84634	KISS1R	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
84634	KISS1R	Pes cavus	HP:0001761
84634	KISS1R	Camptodactyly	HP:0012385
84634	KISS1R	Short stature	HP:0004322
84634	KISS1R	Seizures	HP:0001250
84634	KISS1R	Ataxia	HP:0001251
84634	KISS1R	Pes planus	HP:0001763
84634	KISS1R	Anxiety	HP:0000739
84634	KISS1R	Muscular hypotonia	HP:0001252
84634	KISS1R	Secondary amenorrhea	HP:0000869
84634	KISS1R	Renal agenesis	HP:0000104
84634	KISS1R	Obesity	HP:0001513
84634	KISS1R	Decreased serum testosterone level	HP:0040171
84634	KISS1R	Dysarthria	HP:0001260
84634	KISS1R	Breast hypoplasia	HP:0003187
84634	KISS1R	Visual impairment	HP:0000505
84634	KISS1R	Absence of secondary sex characteristics	HP:0008187
84634	KISS1R	Ptosis	HP:0000508
84634	KISS1R	Reduced bone mineral density	HP:0004349
84634	KISS1R	Nystagmus	HP:0000639
10907	TXNL4A	Preauricular skin tag	HP:0000384
10907	TXNL4A	Bifid uvula	HP:0000193
10907	TXNL4A	Short philtrum	HP:0000322
10907	TXNL4A	Blepharophimosis	HP:0000581
10907	TXNL4A	Abnormal cardiac septum morphology	HP:0001671
10907	TXNL4A	Autosomal recessive inheritance	HP:0000007
10907	TXNL4A	Short palpebral fissure	HP:0012745
10907	TXNL4A	Bilateral choanal atresia/stenosis	HP:0200138
10907	TXNL4A	Lower eyelid coloboma	HP:0000652
10907	TXNL4A	Cleft upper lip	HP:0000204
10907	TXNL4A	Hypomimic face	HP:0000338
10907	TXNL4A	2-3 toe syndactyly	HP:0004691
10907	TXNL4A	Abnormality of metabolism/homeostasis	HP:0001939
10907	TXNL4A	Conductive hearing impairment	HP:0000405
10907	TXNL4A	Bilateral choanal atresia	HP:0004502
10907	TXNL4A	Renal hypoplasia	HP:0000089
10907	TXNL4A	Protruding ear	HP:0000411
10907	TXNL4A	Micrognathia	HP:0000347
10907	TXNL4A	Ventricular septal defect	HP:0001629
10907	TXNL4A	Atrial septal defect	HP:0001631
10907	TXNL4A	Narrow mouth	HP:0000160
10907	TXNL4A	Short stature	HP:0004322
10907	TXNL4A	Feeding difficulties in infancy	HP:0008872
10907	TXNL4A	Thin vermilion border	HP:0000233
10907	TXNL4A	Prominent nasal bridge	HP:0000426
10907	TXNL4A	Abnormal palate morphology	HP:0000174
10907	TXNL4A	Underdeveloped nasal alae	HP:0000430
10907	TXNL4A	Wide nasal bridge	HP:0000431
10907	TXNL4A	Mandibular prognathia	HP:0000303
10907	TXNL4A	Cleft palate	HP:0000175
10907	TXNL4A	Abnormality of vision	HP:0000504
10907	TXNL4A	Hypertelorism	HP:0000316
10907	TXNL4A	Short nose	HP:0003196
10908	PNPLA6	Abnormal electroretinogram	HP:0000512
10908	PNPLA6	Abnormality of the hand	HP:0001155
10908	PNPLA6	Gynecomastia	HP:0000771
10908	PNPLA6	Decreased circulating gonadotropin level	HP:0030339
10908	PNPLA6	Brachydactyly	HP:0001156
10908	PNPLA6	Areflexia	HP:0001284
10908	PNPLA6	Cataract	HP:0000518
10908	PNPLA6	Sparse hair	HP:0008070
10908	PNPLA6	Autosomal recessive inheritance	HP:0000007
10908	PNPLA6	Gait disturbance	HP:0001288
10908	PNPLA6	Optic atrophy	HP:0000648
10908	PNPLA6	Hand polydactyly	HP:0001161
10908	PNPLA6	Central heterochromia	HP:0007818
10908	PNPLA6	Long eyelashes	HP:0000527
10908	PNPLA6	Decreased fertility	HP:0000144
10908	PNPLA6	Progressive visual loss	HP:0000529
10908	PNPLA6	Displacement of the urethral meatus	HP:0100627
10908	PNPLA6	Gait ataxia	HP:0002066
10908	PNPLA6	Peripheral axonal neuropathy	HP:0003477
10908	PNPLA6	Hemiplegia/hemiparesis	HP:0004374
10908	PNPLA6	Sensorineural hearing impairment	HP:0000407
10908	PNPLA6	Abnormality of retinal pigmentation	HP:0007703
10908	PNPLA6	Cryptorchidism	HP:0000028
10908	PNPLA6	Distal muscle weakness	HP:0002460
10908	PNPLA6	Epicanthus	HP:0000286
10908	PNPLA6	Babinski sign	HP:0003487
10908	PNPLA6	Hypoplasia of penis	HP:0008736
10908	PNPLA6	Intention tremor	HP:0002080
10908	PNPLA6	Retinal degeneration	HP:0000546
10908	PNPLA6	Juvenile onset	HP:0003621
10908	PNPLA6	Abnormality of the antitragus	HP:0009896
10908	PNPLA6	Atrophy of the spinal cord	HP:0006827
10908	PNPLA6	Long eyebrows	HP:0004523
10908	PNPLA6	Hypogonadotrophic hypogonadism	HP:0000044
10908	PNPLA6	Retinal dystrophy	HP:0000556
10908	PNPLA6	Bilateral single transverse palmar creases	HP:0007598
10908	PNPLA6	Scrotal hypoplasia	HP:0000046
10908	PNPLA6	Congenital hepatic fibrosis	HP:0002612
10908	PNPLA6	Severe short stature	HP:0003510
10908	PNPLA6	Micropenis	HP:0000054
10908	PNPLA6	Delayed puberty	HP:0000823
10908	PNPLA6	Growth hormone deficiency	HP:0000824
10908	PNPLA6	Alopecia	HP:0001596
10908	PNPLA6	Hyperreflexia	HP:0001347
10908	PNPLA6	Pigmentary retinopathy	HP:0000580
10908	PNPLA6	Abnormal upper motor neuron morphology	HP:0002127
10908	PNPLA6	Renal insufficiency	HP:0000083
10908	PNPLA6	Finger syndactyly	HP:0006101
10908	PNPLA6	Dementia	HP:0000726
10908	PNPLA6	Abnormality of cardiovascular system morphology	HP:0030680
10908	PNPLA6	Type II diabetes mellitus	HP:0005978
10908	PNPLA6	Motor axonal neuropathy	HP:0007002
10908	PNPLA6	Progressive	HP:0003676
10908	PNPLA6	Distal lower limb muscle weakness	HP:0009053
10908	PNPLA6	Generalized limb muscle atrophy	HP:0009055
10908	PNPLA6	Spinocerebellar atrophy	HP:0007263
10908	PNPLA6	Abnormality of the hypothalamus-pituitary axis	HP:0000864
10908	PNPLA6	Intellectual disability	HP:0001249
10908	PNPLA6	Short stature	HP:0004322
10908	PNPLA6	Ataxia	HP:0001251
10908	PNPLA6	Iris coloboma	HP:0000612
10908	PNPLA6	Muscular hypotonia	HP:0001252
10908	PNPLA6	Photophobia	HP:0000613
10908	PNPLA6	Strabismus	HP:0000486
10908	PNPLA6	Intellectual disability, mild	HP:0001256
10908	PNPLA6	Obesity	HP:0001513
10908	PNPLA6	Spasticity	HP:0001257
10908	PNPLA6	Spastic paraplegia	HP:0001258
10908	PNPLA6	Progressive spastic paraplegia	HP:0007020
10908	PNPLA6	Distal amyotrophy	HP:0003693
10908	PNPLA6	Small for gestational age	HP:0001518
10908	PNPLA6	Chorioretinal dystrophy	HP:0001135
10908	PNPLA6	Personality changes	HP:0000751
10908	PNPLA6	Low-set, posteriorly rotated ears	HP:0000368
10908	PNPLA6	Clinodactyly of the 5th finger	HP:0004209
10908	PNPLA6	Hyporeflexia	HP:0001265
10908	PNPLA6	Neurological speech impairment	HP:0002167
10908	PNPLA6	Brachycephaly	HP:0000248
10908	PNPLA6	Cerebellar atrophy	HP:0001272
10908	PNPLA6	Scanning speech	HP:0002168
10908	PNPLA6	Supernumerary nipple	HP:0002558
10908	PNPLA6	Nystagmus	HP:0000639
2717	GLA	Abnormality of the hand	HP:0001155
2717	GLA	Hyperlipidemia	HP:0003077
2717	GLA	Cataract	HP:0000518
2717	GLA	Abnormality of femur morphology	HP:0002823
2717	GLA	Optic atrophy	HP:0000648
2717	GLA	Obstructive lung disease	HP:0006536
2717	GLA	Achalasia	HP:0002571
2717	GLA	X-linked recessive inheritance	HP:0001419
2717	GLA	Conjunctival telangiectasia	HP:0000524
2717	GLA	Arthralgia	HP:0002829
2717	GLA	Atrioventricular block	HP:0001678
2717	GLA	Angina pectoris	HP:0001681
2717	GLA	Vertigo	HP:0002321
2717	GLA	Corneal opacity	HP:0007957
2717	GLA	Transient ischemic attack	HP:0002326
2717	GLA	Hematuria	HP:0000790
2717	GLA	Sensorineural hearing impairment	HP:0000407
2717	GLA	Coarse facial features	HP:0000280
2717	GLA	Ventricular septal hypertrophy	HP:0005144
2717	GLA	Fever	HP:0001945
2717	GLA	Arrhythmia	HP:0011675
2717	GLA	Tenesmus	HP:0012702
2717	GLA	Juvenile onset	HP:0003621
2717	GLA	Abnormal autonomic nervous system physiology	HP:0012332
2717	GLA	Respiratory insufficiency	HP:0002093
2717	GLA	Dyspnea	HP:0002094
2717	GLA	Left ventricular hypertrophy	HP:0001712
2717	GLA	Emphysema	HP:0002097
2717	GLA	Thick lower lip vermilion	HP:0000179
2717	GLA	Hypertension	HP:0000822
2717	GLA	Delayed puberty	HP:0000823
2717	GLA	Cognitive impairment	HP:0100543
2717	GLA	Bundle branch block	HP:0011710
2717	GLA	Hyperkeratosis	HP:0000962
2717	GLA	Muscle spasm	HP:0003394
2717	GLA	Hypohidrosis	HP:0000966
2717	GLA	Developmental regression	HP:0002376
2717	GLA	Paresthesia	HP:0003401
2717	GLA	Subcutaneous nodule	HP:0001482
2717	GLA	Depressivity	HP:0000716
2717	GLA	Fasciculations	HP:0002380
2717	GLA	Abnormal endocardium morphology	HP:0004306
2717	GLA	Renal insufficiency	HP:0000083
2717	GLA	Glomerulopathy	HP:0100820
2717	GLA	Arthritis	HP:0001369
2717	GLA	Fatigue	HP:0012378
2717	GLA	Abnormal renal tubule morphology	HP:0000091
2717	GLA	Proteinuria	HP:0000093
2717	GLA	Vomiting	HP:0002013
2717	GLA	Diarrhea	HP:0002014
2717	GLA	Nausea and vomiting	HP:0002017
2717	GLA	Short stature	HP:0004322
2717	GLA	Seizures	HP:0001250
2717	GLA	Nausea	HP:0002018
2717	GLA	Anxiety	HP:0000739
2717	GLA	Congestive heart failure	HP:0001635
2717	GLA	Nephrotic syndrome	HP:0000100
2717	GLA	Hypertrophic cardiomyopathy	HP:0001639
2717	GLA	Malabsorption	HP:0002024
2717	GLA	Telangiectasia of the skin	HP:0100585
2717	GLA	Diabetes insipidus	HP:0000873
2717	GLA	Corneal dystrophy	HP:0001131
2717	GLA	Abdominal pain	HP:0002027
2717	GLA	Lymphedema	HP:0001004
2717	GLA	Chronic obstructive pulmonary disease	HP:0006510
2717	GLA	Abnormal aortic valve morphology	HP:0001646
2717	GLA	Anemia	HP:0001903
2717	GLA	Nephropathy	HP:0000112
2717	GLA	Mitral regurgitation	HP:0001653
2717	GLA	Angiokeratoma	HP:0001014
2717	GLA	Anorexia	HP:0002039
2717	GLA	Myocardial infarction	HP:0001658
2717	GLA	Reduced bone mineral density	HP:0004349
2717	GLA	Myalgia	HP:0003326
2719	GPC3	Macrocephaly	HP:0000256
2719	GPC3	Small nail	HP:0001792
2719	GPC3	Umbilical hernia	HP:0001537
2719	GPC3	Multicystic kidney dysplasia	HP:0000003
2719	GPC3	Omphalocele	HP:0001539
2719	GPC3	Abnormality of the ribs	HP:0000772
2719	GPC3	Diastasis recti	HP:0001540
2719	GPC3	Autosomal dominant inheritance	HP:0000006
2719	GPC3	Intestinal malrotation	HP:0002566
2719	GPC3	Congenital diaphragmatic hernia	HP:0000776
2719	GPC3	Generalized hypotonia	HP:0001290
2719	GPC3	Aniridia	HP:0000526
2719	GPC3	Hematuria	HP:0000790
2719	GPC3	Inguinal hernia	HP:0000023
2719	GPC3	Coarse facial features	HP:0000280
2719	GPC3	Dandy-Walker malformation	HP:0001305
2719	GPC3	Polyhydramnios	HP:0001561
2719	GPC3	Cryptorchidism	HP:0000028
2719	GPC3	Epicanthus	HP:0000286
2719	GPC3	Abnormality of the helix	HP:0011039
2719	GPC3	Hypoplasia of penis	HP:0008736
2719	GPC3	Two carpal ossification centers present at birth	HP:0006176
2719	GPC3	Weight loss	HP:0001824
2719	GPC3	Short toe	HP:0001831
2719	GPC3	Broad thumb	HP:0011304
2719	GPC3	Cerebellar vermis hypoplasia	HP:0001320
2719	GPC3	Broad toe	HP:0001837
2719	GPC3	Hypospadias	HP:0000047
2719	GPC3	Mandibular prognathia	HP:0000303
2719	GPC3	Flared iliac wings	HP:0002869
2719	GPC3	Abnormal lung lobation	HP:0002101
2719	GPC3	Hypertension	HP:0000822
2719	GPC3	Hypertelorism	HP:0000316
2719	GPC3	Short 2nd finger	HP:0009536
2719	GPC3	Hepatoblastoma	HP:0002884
2719	GPC3	Hydroureter	HP:0000072
2719	GPC3	Hoarse voice	HP:0001609
2719	GPC3	Ureteral duplication	HP:0000073
2719	GPC3	Posterior helix pit	HP:0008523
2719	GPC3	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
2719	GPC3	Neoplasm of the liver	HP:0002896
2719	GPC3	Scoliosis	HP:0002650
2719	GPC3	Ventricular septal defect	HP:0001629
2719	GPC3	Congenital hip dislocation	HP:0001374
2719	GPC3	Vertebral segmentation defect	HP:0003422
2719	GPC3	Atrial septal defect	HP:0001631
2719	GPC3	Tall stature	HP:0000098
2719	GPC3	Narrow sacroiliac notch	HP:0008803
2719	GPC3	Cardiomyopathy	HP:0001638
2719	GPC3	Enlarged kidney	HP:0000105
2719	GPC3	Pulmonic stenosis	HP:0001642
2719	GPC3	Nephroblastoma	HP:0002667
2719	GPC3	Patent ductus arteriosus	HP:0001643
2719	GPC3	Renal cyst	HP:0000107
2719	GPC3	Hearing impairment	HP:0000365
2719	GPC3	Low-set, posteriorly rotated ears	HP:0000368
2719	GPC3	Clinodactyly of the 5th finger	HP:0004209
2719	GPC3	Short sacroiliac notch	HP:0003185
2719	GPC3	Preauricular pit	HP:0004467
2719	GPC3	Nail dysplasia	HP:0002164
2719	GPC3	Neurological speech impairment	HP:0002167
2719	GPC3	Prolonged QT interval	HP:0001657
2719	GPC3	Cervical ribs	HP:0000891
2719	GPC3	Short nose	HP:0003196
2719	GPC3	Hydronephrosis	HP:0000126
2719	GPC3	Preauricular skin tag	HP:0000384
2719	GPC3	Vertebral fusion	HP:0002948
2719	GPC3	Transposition of the great arteries	HP:0001669
2719	GPC3	Postaxial hand polydactyly	HP:0001162
2719	GPC3	Camptodactyly of finger	HP:0100490
2719	GPC3	X-linked recessive inheritance	HP:0001419
2719	GPC3	Increased circulating total IgE level	HP:0003212
2719	GPC3	Submucous cleft lip	HP:0009101
2719	GPC3	High, narrow palate	HP:0002705
2719	GPC3	Heterogeneous	HP:0001425
2719	GPC3	Broad palm	HP:0001169
2719	GPC3	Somatic mutation	HP:0001428
2719	GPC3	Hypoglycemia	HP:0001943
2719	GPC3	Fever	HP:0001945
2719	GPC3	Wide mouth	HP:0000154
2719	GPC3	Short distal phalanx of finger	HP:0009882
2719	GPC3	Arrhythmia	HP:0011675
2719	GPC3	Lymphadenopathy	HP:0002716
2719	GPC3	Pancreatic islet-cell hyperplasia	HP:0004510
2719	GPC3	Macroglossia	HP:0000158
2719	GPC3	Depressed nasal bridge	HP:0005280
2719	GPC3	Postaxial polydactyly	HP:0100259
2719	GPC3	Wide nasal bridge	HP:0000431
2719	GPC3	Cleft palate	HP:0000175
2719	GPC3	Neoplasm of the lung	HP:0100526
2719	GPC3	Dental malocclusion	HP:0000689
2719	GPC3	Short palm	HP:0004279
2719	GPC3	Birth length greater than 97th percentile	HP:0003517
2719	GPC3	Bundle branch block	HP:0011710
2719	GPC3	Neuroblastoma	HP:0003006
2719	GPC3	Hepatomegaly	HP:0002240
2719	GPC3	Meckel diverticulum	HP:0002245
2719	GPC3	Cleft upper lip	HP:0000204
2719	GPC3	Duplication of renal pelvis	HP:0005580
2719	GPC3	Anteverted nares	HP:0000463
2719	GPC3	Splenomegaly	HP:0001744
2719	GPC3	Webbed neck	HP:0000465
2719	GPC3	2-3 finger syndactyly	HP:0001233
2719	GPC3	Polysplenia	HP:0001748
2719	GPC3	Finger syndactyly	HP:0006101
2719	GPC3	Short neck	HP:0000470
2719	GPC3	Broad secondary alveolar ridge	HP:0000216
2719	GPC3	Six lumbar vertebrae	HP:0008416
2719	GPC3	Intellectual disability	HP:0001249
2719	GPC3	Talipes equinovarus	HP:0001762
2719	GPC3	Seizures	HP:0001250
2719	GPC3	Muscular hypotonia	HP:0001252
2719	GPC3	Broad foot	HP:0001769
2719	GPC3	Toe syndactyly	HP:0001770
2719	GPC3	Abdominal pain	HP:0002027
2719	GPC3	Short foot	HP:0001773
2719	GPC3	Downslanted palpebral fissures	HP:0000494
2719	GPC3	Hydrocephalus	HP:0000238
2719	GPC3	Global developmental delay	HP:0001263
2719	GPC3	Accelerated skeletal maturation	HP:0005616
2719	GPC3	Death in infancy	HP:0001522
2719	GPC3	Agenesis of corpus callosum	HP:0001274
2719	GPC3	Supernumerary nipple	HP:0002558
2719	GPC3	Pectus excavatum	HP:0000767
2720	GLB1	Skeletal muscle atrophy	HP:0003202
2720	GLB1	Vacuolated lymphocytes	HP:0001922
2720	GLB1	Thickened ribs	HP:0000900
2720	GLB1	Autosomal recessive inheritance	HP:0000007
2720	GLB1	Flaring of rib cage	HP:0000904
2720	GLB1	Gait disturbance	HP:0001288
2720	GLB1	Optic atrophy	HP:0000648
2720	GLB1	Cerebral atrophy	HP:0002059
2720	GLB1	Cervical myelopathy	HP:0002318
2720	GLB1	Abnormality of the face	HP:0000271
2720	GLB1	Cerebral degeneration	HP:0007313
2720	GLB1	Inguinal hernia	HP:0000023
2720	GLB1	Coarse facial features	HP:0000280
2720	GLB1	Wide mouth	HP:0000154
2720	GLB1	Platyspondyly	HP:0000926
2720	GLB1	Carious teeth	HP:0000670
2720	GLB1	Hypoplastic vertebral bodies	HP:0008479
2720	GLB1	Juvenile onset	HP:0003621
2720	GLB1	Keratan sulfate excretion in urine	HP:0012069
2720	GLB1	Genu valgum	HP:0002857
2720	GLB1	Restrictive ventilatory defect	HP:0002091
2720	GLB1	Grayish enamel	HP:0000683
2720	GLB1	Osteoporosis	HP:0000939
2720	GLB1	Intimal thickening in the coronary arteries	HP:0005292
2720	GLB1	Angiokeratoma corporis diffusum	HP:0001071
2720	GLB1	Widely spaced teeth	HP:0000687
2720	GLB1	Mandibular prognathia	HP:0000303
2720	GLB1	Dystonia	HP:0001332
2720	GLB1	Flared iliac wings	HP:0002869
2720	GLB1	Severe short stature	HP:0003510
2720	GLB1	Hypertelorism	HP:0000316
2720	GLB1	Sea-blue histiocytosis	HP:0001982
2720	GLB1	Hepatomegaly	HP:0002240
2720	GLB1	Disproportionate short-trunk short stature	HP:0003521
2720	GLB1	Foam cells	HP:0003651
2720	GLB1	Slurred speech	HP:0001350
2720	GLB1	Pointed proximal second through fifth metacarpals	HP:0001223
2720	GLB1	Ventriculomegaly	HP:0002119
2720	GLB1	Metaphyseal widening	HP:0003016
2720	GLB1	Depressed nasal ridge	HP:0000457
2720	GLB1	Diffuse cerebral atrophy	HP:0002506
2720	GLB1	Hypoplastic acetabulae	HP:0003274
2720	GLB1	Generalized myoclonic seizures	HP:0002123
2720	GLB1	Constricted iliac wings	HP:0003277
2720	GLB1	Spastic tetraplegia	HP:0002510
2720	GLB1	Abnormality of blood and blood-forming tissues	HP:0001871
2720	GLB1	Opacification of the corneal stroma	HP:0007759
2720	GLB1	Abnormality of the urinary system	HP:0000079
2720	GLB1	Abnormality of the spleen	HP:0001743
2720	GLB1	Splenomegaly	HP:0001744
2720	GLB1	Gingival overgrowth	HP:0000212
2720	GLB1	Short neck	HP:0000470
2720	GLB1	Frontal bossing	HP:0002007
2720	GLB1	Beaking of vertebral bodies	HP:0004568
2720	GLB1	Scoliosis	HP:0002650
2720	GLB1	Intellectual disability	HP:0001249
2720	GLB1	Short stature	HP:0004322
2720	GLB1	Congestive heart failure	HP:0001635
2720	GLB1	Ataxia	HP:0001251
2720	GLB1	Recurrent upper respiratory tract infections	HP:0002788
2720	GLB1	Ovoid vertebral bodies	HP:0003300
2720	GLB1	Decreased beta-galactosidase activity	HP:0008166
2720	GLB1	Hypertrichosis	HP:0000998
2720	GLB1	Hypertrophic cardiomyopathy	HP:0001639
2720	GLB1	Intellectual disability, mild	HP:0001256
2720	GLB1	Progressive psychomotor deterioration	HP:0007272
2720	GLB1	Cherry red spot of the macula	HP:0010729
2720	GLB1	Ulnar deviation of the wrist	HP:0003049
2720	GLB1	Joint stiffness	HP:0001387
2720	GLB1	Hyperlordosis	HP:0003307
2720	GLB1	Dilated cardiomyopathy	HP:0001644
2720	GLB1	Joint laxity	HP:0001388
2720	GLB1	Cervical subluxation	HP:0003308
2720	GLB1	Epiphyseal deformities of tubular bones	HP:0003053
2720	GLB1	Hearing impairment	HP:0000365
2720	GLB1	Anterior beaking of lumbar vertebrae	HP:0008430
2720	GLB1	Hypoplasia of the odontoid process	HP:0003311
2720	GLB1	Abnormality of the liver	HP:0001392
2720	GLB1	Coxa valga	HP:0002673
2720	GLB1	Developmental stagnation	HP:0007281
2720	GLB1	Death in infancy	HP:0001522
2720	GLB1	Aortic valve stenosis	HP:0001650
2720	GLB1	Prominent sternum	HP:0000884
2720	GLB1	Abnormal heart valve morphology	HP:0001654
2720	GLB1	Kyphosis	HP:0002808
10913	EDAR	Thin skin	HP:0000963
10913	EDAR	Eczema	HP:0000964
10913	EDAR	Abnormal toenail morphology	HP:0008388
10913	EDAR	Hypohidrosis	HP:0000966
10913	EDAR	Autosomal dominant inheritance	HP:0000006
10913	EDAR	Autosomal recessive inheritance	HP:0000007
10913	EDAR	Ectodermal dysplasia	HP:0000968
10913	EDAR	Depressed nasal ridge	HP:0000457
10913	EDAR	Anhidrosis	HP:0000970
10913	EDAR	Sparse eyelashes	HP:0000653
10913	EDAR	Abnormal fingernail morphology	HP:0001231
10913	EDAR	Heterogeneous	HP:0001425
10913	EDAR	Abnormality of dental morphology	HP:0006482
10913	EDAR	Periorbital hyperpigmentation	HP:0001106
10913	EDAR	Prominent forehead	HP:0011220
10913	EDAR	Sparse and thin eyebrow	HP:0000535
10913	EDAR	Frontal bossing	HP:0002007
10913	EDAR	Hypodontia	HP:0000668
10913	EDAR	Periorbital wrinkles	HP:0000607
10913	EDAR	Depressed nasal bridge	HP:0005280
10913	EDAR	Anodontia	HP:0000674
10913	EDAR	Fine hair	HP:0002213
10913	EDAR	Abnormality of skin pigmentation	HP:0001000
10913	EDAR	Everted lower lip vermilion	HP:0000232
10913	EDAR	Slow-growing hair	HP:0002217
10913	EDAR	Hypoplasia of teeth	HP:0000685
10913	EDAR	Hypotrichosis	HP:0001006
10913	EDAR	Premature loss of primary teeth	HP:0006323
10913	EDAR	Microdontia	HP:0000691
10913	EDAR	Everted upper lip vermilion	HP:0010803
10913	EDAR	Nail dysplasia	HP:0002164
10913	EDAR	Thick vermilion border	HP:0012471
10913	EDAR	Sparse body hair	HP:0002231
10913	EDAR	Hypohidrotic ectodermal dysplasia	HP:0007607
10913	EDAR	Alopecia	HP:0001596
10913	EDAR	Dry skin	HP:0000958
10913	EDAR	Heat intolerance	HP:0002046
10913	EDAR	Malignant hyperthermia	HP:0002047
10916	MAGED2	Increased circulating renin level	HP:0000848
10916	MAGED2	Hypokalemia	HP:0002900
10916	MAGED2	Hypercalciuria	HP:0002150
10916	MAGED2	Premature birth	HP:0001622
10916	MAGED2	Hyponatremia	HP:0002902
10916	MAGED2	Polyuria	HP:0000103
10916	MAGED2	Medullary nephrocalcinosis	HP:0012408
10916	MAGED2	Polyhydramnios	HP:0001561
10916	MAGED2	Hypochloremia	HP:0003113
10916	MAGED2	X-linked recessive inheritance	HP:0001419
10916	MAGED2	Fetal polyuria	HP:0001563
92840	REEP6	Abnormal electroretinogram	HP:0000512
92840	REEP6	Hyperreflexia	HP:0001347
92840	REEP6	Cataract	HP:0000518
92840	REEP6	Autosomal recessive inheritance	HP:0000007
92840	REEP6	Hypogonadism	HP:0000135
92840	REEP6	Optic atrophy	HP:0000648
92840	REEP6	Hyperinsulinemia	HP:0000842
92840	REEP6	Anteverted nares	HP:0000463
92840	REEP6	Retinal atrophy	HP:0001105
92840	REEP6	Conductive hearing impairment	HP:0000405
92840	REEP6	Nyctalopia	HP:0000662
92840	REEP6	Sensorineural hearing impairment	HP:0000407
92840	REEP6	Abnormality of retinal pigmentation	HP:0007703
92840	REEP6	Ophthalmoplegia	HP:0000602
92840	REEP6	Type II diabetes mellitus	HP:0005978
92840	REEP6	Atypical scarring of skin	HP:0000987
92840	REEP6	Hypoplasia of penis	HP:0008736
92840	REEP6	Intellectual disability	HP:0001249
92840	REEP6	Abnormal testis morphology	HP:0000035
92840	REEP6	Photophobia	HP:0000613
92840	REEP6	Obesity	HP:0001513
92840	REEP6	Blindness	HP:0000618
92840	REEP6	Posterior subcapsular cataract	HP:0007787
92840	REEP6	Abnormal retinal vascular morphology	HP:0008046
92840	REEP6	Reduced visual acuity	HP:0007663
92840	REEP6	Wide nasal bridge	HP:0000431
92840	REEP6	Cystoid macular edema	HP:0011505
92840	REEP6	Keratoconus	HP:0000563
92840	REEP6	Glaucoma	HP:0000501
92840	REEP6	Progressive night blindness	HP:0007675
92840	REEP6	Rod-cone dystrophy	HP:0000510
92840	REEP6	Nystagmus	HP:0000639
2729	GCLC	Abnormality of metabolism/homeostasis	HP:0001939
2729	GCLC	Hemolytic anemia	HP:0001878
2729	GCLC	Autosomal recessive inheritance	HP:0000007
2729	GCLC	Polyneuropathy	HP:0001271
2729	GCLC	Late-onset spinocerebellar degeneration	HP:0006904
2729	GCLC	Myopathy	HP:0003198
2729	GCLC	Anemia	HP:0001903
2731	GLDC	Intellectual disability	HP:0001249
2731	GLDC	Irritability	HP:0000737
2731	GLDC	Seizures	HP:0001250
2731	GLDC	Hyperreflexia	HP:0001347
2731	GLDC	Hyperglycinuria	HP:0003108
2731	GLDC	Muscular hypotonia	HP:0001252
2731	GLDC	Lethargy	HP:0001254
2731	GLDC	Impulsivity	HP:0100710
2731	GLDC	Autosomal recessive inheritance	HP:0000007
2731	GLDC	Restlessness	HP:0000711
2731	GLDC	Generalized hypotonia	HP:0001290
2731	GLDC	Hyperglycinemia	HP:0002154
2731	GLDC	Aggressive behavior	HP:0000718
2731	GLDC	Hyperactivity	HP:0000752
2731	GLDC	Hyporeflexia	HP:0001265
2731	GLDC	Death in infancy	HP:0001522
2731	GLDC	Encephalopathy	HP:0001298
2731	GLDC	Recurrent singultus	HP:0100247
2731	GLDC	Myoclonus	HP:0001336
2731	GLDC	Agenesis of corpus callosum	HP:0001274
2733	GLE1	Skeletal muscle atrophy	HP:0003202
2733	GLE1	Abnormality of the ribs	HP:0000772
2733	GLE1	Neurodegeneration	HP:0002180
2733	GLE1	Autosomal recessive inheritance	HP:0000007
2733	GLE1	Paralysis	HP:0003470
2733	GLE1	Abnormal anterior horn cell morphology	HP:0006802
2733	GLE1	Abnormality of the amniotic fluid	HP:0001560
2733	GLE1	Polyhydramnios	HP:0001561
2733	GLE1	Slender long bone	HP:0003100
2733	GLE1	Abnormal cortical bone morphology	HP:0003103
2733	GLE1	Pulmonary hypoplasia	HP:0002089
2733	GLE1	Hypoplasia of the musculature	HP:0009004
2733	GLE1	Dyspnea	HP:0002094
2733	GLE1	Amniotic constriction ring	HP:0009775
2733	GLE1	Amyotrophic lateral sclerosis	HP:0007354
2733	GLE1	Hypertelorism	HP:0000316
2733	GLE1	Respiratory failure	HP:0002878
2733	GLE1	Muscle spasm	HP:0003394
2733	GLE1	Recurrent fractures	HP:0002757
2733	GLE1	Fetal akinesia sequence	HP:0001989
2733	GLE1	Abnormality of the hip bone	HP:0003272
2733	GLE1	Emotional lability	HP:0000712
2733	GLE1	Edema	HP:0000969
2733	GLE1	Agitation	HP:0000713
2733	GLE1	Depressivity	HP:0000716
2733	GLE1	Webbed neck	HP:0000465
2733	GLE1	Laryngospasm	HP:0025425
2733	GLE1	Abnormality of the elbow	HP:0009811
2733	GLE1	Short neck	HP:0000470
2733	GLE1	Xerostomia	HP:0000217
2733	GLE1	Fatigue	HP:0012378
2733	GLE1	Micrognathia	HP:0000347
2733	GLE1	Widening of cervical spinal canal	HP:0004571
2733	GLE1	Limitation of joint mobility	HP:0001376
2733	GLE1	Nausea and vomiting	HP:0002017
2733	GLE1	Short stature	HP:0004322
2733	GLE1	Neonatal death	HP:0003811
2733	GLE1	Anxiety	HP:0000739
2733	GLE1	Spasticity	HP:0001257
2733	GLE1	Paucity of anterior horn motor neurons	HP:0007277
2733	GLE1	Abnormal form of the vertebral bodies	HP:0003312
2733	GLE1	Low-set, posteriorly rotated ears	HP:0000368
2733	GLE1	Low-set ears	HP:0000369
2733	GLE1	Fatigable weakness of swallowing muscles	HP:0030195
2733	GLE1	Pain	HP:0012531
2733	GLE1	Arthrogryposis multiplex congenita	HP:0002804
2733	GLE1	Fatigable weakness of respiratory muscles	HP:0030196
2733	GLE1	Generalized muscle weakness	HP:0003324
2733	GLE1	Abnormality of the thorax	HP:0000765
2735	GLI1	Short thorax	HP:0010306
2735	GLI1	Narrow chest	HP:0000774
2735	GLI1	Hydroureter	HP:0000072
2735	GLI1	Abnormality of female internal genitalia	HP:0000008
2735	GLI1	Hypoplastic toenails	HP:0001800
2735	GLI1	Hand polydactyly	HP:0001161
2735	GLI1	Abnormal fingernail morphology	HP:0001231
2735	GLI1	Abnormality of pelvic girdle bone morphology	HP:0002644
2735	GLI1	Cubitus valgus	HP:0002967
2735	GLI1	Capitate-hamate fusion	HP:0001241
2735	GLI1	Neonatal short-limb short stature	HP:0008921
2735	GLI1	Short distal phalanx of finger	HP:0009882
2735	GLI1	Hypodontia	HP:0000668
2735	GLI1	Cryptorchidism	HP:0000028
2735	GLI1	Ventricular septal defect	HP:0001629
2735	GLI1	Atrial septal defect	HP:0001631
2735	GLI1	Situs inversus totalis	HP:0001696
2735	GLI1	Intellectual disability	HP:0001249
2735	GLI1	Postaxial polydactyly	HP:0100259
2735	GLI1	Abnormal hair quantity	HP:0011362
2735	GLI1	Failure to thrive	HP:0001508
2735	GLI1	Foot polydactyly	HP:0001829
2735	GLI1	Renal hypoplasia/aplasia	HP:0008678
2735	GLI1	Strabismus	HP:0000486
2735	GLI1	Intrauterine growth retardation	HP:0001511
2735	GLI1	Micromelia	HP:0002983
2735	GLI1	Atrioventricular canal defect	HP:0006695
2735	GLI1	Epispadias	HP:0000039
2735	GLI1	Thin vermilion border	HP:0000233
2735	GLI1	Genu valgum	HP:0002857
2735	GLI1	Delayed eruption of teeth	HP:0000684
2735	GLI1	Aplasia/Hypoplasia of the lungs	HP:0006703
2735	GLI1	Hypospadias	HP:0000047
2735	GLI1	Emphysema	HP:0002097
2735	GLI1	Microdontia	HP:0000691
2735	GLI1	Nail dysplasia	HP:0002164
2735	GLI1	Abnormal heart valve morphology	HP:0001654
2735	GLI1	Abnormal oral mucosa morphology	HP:0011830
2735	GLI1	Synostosis of carpal bones	HP:0005048
2735	GLI1	Acute leukemia	HP:0002488
2735	GLI1	Abnormality of bone marrow cell morphology	HP:0005561
2735	GLI1	Conical incisor	HP:0011065
2735	GLI1	Delayed skeletal maturation	HP:0002750
2735	GLI1	Abnormal oral frenulum morphology	HP:0000190
2736	GLI2	Anterior pituitary agenesis	HP:0010626
2736	GLI2	EMG: myopathic abnormalities	HP:0003458
2736	GLI2	Anterior pituitary hypoplasia	HP:0010627
2736	GLI2	Hemangioma	HP:0001028
2736	GLI2	Autosomal dominant inheritance	HP:0000006
2736	GLI2	Hypogonadism	HP:0000135
2736	GLI2	Underdeveloped tragus	HP:0011272
2736	GLI2	Postaxial hand polydactyly	HP:0001162
2736	GLI2	Hypopituitarism	HP:0040075
2736	GLI2	Prominent antihelix	HP:0000395
2736	GLI2	Amenorrhea	HP:0000141
2736	GLI2	Anophthalmia	HP:0000528
2736	GLI2	Malar flattening	HP:0000272
2736	GLI2	Macrotia	HP:0000400
2736	GLI2	Midnasal stenosis	HP:0010644
2736	GLI2	Infertility	HP:0000789
2736	GLI2	Abnormal prolactin level	HP:0040086
2736	GLI2	Hypoglycemia	HP:0001943
2736	GLI2	Midface retrusion	HP:0011800
2736	GLI2	Hypoplasia of the premaxilla	HP:0010650
2736	GLI2	Cryptorchidism	HP:0000028
2736	GLI2	Decreased cervical spine mobility	HP:0004637
2736	GLI2	Decreased testicular size	HP:0008734
2736	GLI2	Abnormality of secondary sexual hair	HP:0009888
2736	GLI2	Hypoplasia of penis	HP:0008736
2736	GLI2	Depressed nasal bridge	HP:0005280
2736	GLI2	Sporadic	HP:0003745
2736	GLI2	Postaxial polydactyly	HP:0100259
2736	GLI2	Osteopenia	HP:0000938
2736	GLI2	Single median maxillary incisor	HP:0006315
2736	GLI2	Hypogonadotrophic hypogonadism	HP:0000044
2736	GLI2	Cleft palate	HP:0000175
2736	GLI2	Dental malocclusion	HP:0000689
2736	GLI2	Short hard palate	HP:0010290
2736	GLI2	Asthma	HP:0002099
2736	GLI2	Tented upper lip vermilion	HP:0010804
2736	GLI2	Pituitary hypothyroidism	HP:0008245
2736	GLI2	Median cleft lip and palate	HP:0008501
2736	GLI2	Hypothyroidism	HP:0000821
2736	GLI2	Micropenis	HP:0000054
2736	GLI2	Delayed puberty	HP:0000823
2736	GLI2	Hypotension	HP:0002615
2736	GLI2	Microphthalmia	HP:0000568
2736	GLI2	Growth hormone deficiency	HP:0000824
2736	GLI2	Bilateral cleft lip and palate	HP:0002744
2736	GLI2	Cyclopia	HP:0009914
2736	GLI2	Partial agenesis of the corpus callosum	HP:0001338
2736	GLI2	Ectopic anterior pituitary gland	HP:0012731
2736	GLI2	Delayed skeletal maturation	HP:0002750
2736	GLI2	Narrow nasal bridge	HP:0000446
2736	GLI2	Ambiguous genitalia	HP:0000062
2736	GLI2	Short philtrum	HP:0000322
2736	GLI2	Choanal atresia	HP:0000453
2736	GLI2	Aplasia/Hypoplasia of the breasts	HP:0010311
2736	GLI2	Pituitary dwarfism	HP:0000839
2736	GLI2	Duodenal atresia	HP:0002247
2736	GLI2	Hypoplasia of the maxilla	HP:0000327
2736	GLI2	Maternal diabetes	HP:0009800
2736	GLI2	Depressed nasal ridge	HP:0000457
2736	GLI2	Polydactyly	HP:0010442
2736	GLI2	Cleft upper lip	HP:0000204
2736	GLI2	Single naris	HP:0009932
2736	GLI2	Anteverted nares	HP:0000463
2736	GLI2	Holoprosencephaly	HP:0001360
2736	GLI2	Severe global developmental delay	HP:0011344
2736	GLI2	Agenesis of incisor	HP:0006485
2736	GLI2	Premature birth	HP:0001622
2736	GLI2	Hypotelorism	HP:0000601
2736	GLI2	Fatigue	HP:0012378
2736	GLI2	Scoliosis	HP:0002650
2736	GLI2	Intellectual disability	HP:0001249
2736	GLI2	Optic nerve hypoplasia	HP:0000609
2736	GLI2	Short stature	HP:0004322
2736	GLI2	Seizures	HP:0001250
2736	GLI2	Constipation	HP:0002019
2736	GLI2	Iris coloboma	HP:0000612
2736	GLI2	Tetralogy of Fallot	HP:0001636
2736	GLI2	Strabismus	HP:0000486
2736	GLI2	Panhypopituitarism	HP:0000871
2736	GLI2	Intrauterine growth retardation	HP:0001511
2736	GLI2	Decreased circulating ACTH level	HP:0002920
2736	GLI2	Renal agenesis	HP:0000104
2736	GLI2	Abnormal cortical gyration	HP:0002536
2736	GLI2	Diabetes insipidus	HP:0000873
2736	GLI2	Ectopic posterior pituitary	HP:0011755
2736	GLI2	Septo-optic dysplasia	HP:0100842
2736	GLI2	Hydrocephalus	HP:0000238
2736	GLI2	Global developmental delay	HP:0001263
2736	GLI2	Variable expressivity	HP:0003828
2736	GLI2	Incomplete penetrance	HP:0003829
2736	GLI2	Osteoporosis of vertebrae	HP:0005625
2736	GLI2	Agenesis of corpus callosum	HP:0001274
2736	GLI2	Absence of secondary sex characteristics	HP:0008187
2736	GLI2	Short nose	HP:0003196
2736	GLI2	Microcephaly	HP:0000252
2737	GLI3	Macrocephaly	HP:0000256
2737	GLI3	Umbilical hernia	HP:0001537
2737	GLI3	Joint contracture of the hand	HP:0009473
2737	GLI3	Hyperglycemia	HP:0003074
2737	GLI3	Distal urethral duplication	HP:0008706
2737	GLI3	Distal shortening of limbs	HP:0006402
2737	GLI3	Wide anterior fontanel	HP:0000260
2737	GLI3	Autosomal dominant inheritance	HP:0000006
2737	GLI3	Congenital diaphragmatic hernia	HP:0000776
2737	GLI3	Hip dislocation	HP:0002827
2737	GLI3	Prominent occiput	HP:0000269
2737	GLI3	Delayed cranial suture closure	HP:0000270
2737	GLI3	Primary adrenal insufficiency	HP:0008207
2737	GLI3	Mesoaxial hand polydactyly	HP:0006159
2737	GLI3	Facial grimacing	HP:0000273
2737	GLI3	Aplasia/Hypoplasia of the vagina	HP:0011026
2737	GLI3	Gonadotropin deficiency	HP:0008213
2737	GLI3	Inguinal hernia	HP:0000023
2737	GLI3	Dandy-Walker malformation	HP:0001305
2737	GLI3	Oligohydramnios	HP:0001562
2737	GLI3	Cryptorchidism	HP:0000028
2737	GLI3	Supernumerary metacarpal bones	HP:0005917
2737	GLI3	Decreased testicular size	HP:0008734
2737	GLI3	Preductal coarctation of the aorta	HP:0005151
2737	GLI3	Postaxial foot polydactyly	HP:0001830
2737	GLI3	Atrioventricular canal defect	HP:0006695
2737	GLI3	Broad thumb	HP:0011304
2737	GLI3	Cerebellar hypoplasia	HP:0001321
2737	GLI3	Camptodactyly of toe	HP:0001836
2737	GLI3	Broad toe	HP:0001837
2737	GLI3	Respiratory insufficiency	HP:0002093
2737	GLI3	Scrotal hypoplasia	HP:0000046
2737	GLI3	Hypospadias	HP:0000047
2737	GLI3	Laryngeal cleft	HP:0008751
2737	GLI3	Secondary growth hormone deficiency	HP:0008240
2737	GLI3	Preaxial foot polydactyly	HP:0001841
2737	GLI3	Distal arthrogryposis	HP:0005684
2737	GLI3	Microretrognathia	HP:0000308
2737	GLI3	Pituitary hypothyroidism	HP:0008245
2737	GLI3	Abnormal lung lobation	HP:0002101
2737	GLI3	Overlapping toe	HP:0001845
2737	GLI3	Micropenis	HP:0000054
2737	GLI3	Microphthalmia	HP:0000568
2737	GLI3	Growth hormone deficiency	HP:0000824
2737	GLI3	Dysplastic distal thumb phalanges with a central hole	HP:0005688
2737	GLI3	Hydrometrocolpos	HP:0030010
2737	GLI3	Precocious puberty	HP:0000826
2737	GLI3	Hypertelorism	HP:0000316
2737	GLI3	Short 4th metacarpal	HP:0010044
2737	GLI3	Ambiguous genitalia	HP:0000062
2737	GLI3	Metopic synostosis	HP:0011330
2737	GLI3	Adrenal hypoplasia	HP:0000835
2737	GLI3	Bifid epiglottis	HP:0010564
2737	GLI3	Gelastic seizures	HP:0010821
2737	GLI3	Auricular tag	HP:0030021
2737	GLI3	Broad hallux	HP:0010055
2737	GLI3	Hydroureter	HP:0000072
2737	GLI3	Broad hallux phalanx	HP:0010059
2737	GLI3	Scaphocephaly	HP:0030799
2737	GLI3	Holoprosencephaly	HP:0001360
2737	GLI3	Craniosynostosis	HP:0001363
2737	GLI3	Sloping forehead	HP:0000340
2737	GLI3	Ectopic kidney	HP:0000086
2737	GLI3	Renal hypoplasia	HP:0000089
2737	GLI3	Talipes	HP:0001883
2737	GLI3	Arrhinencephaly	HP:0002139
2737	GLI3	Abnormal heart morphology	HP:0001627
2737	GLI3	Skeletal dysplasia	HP:0002652
2737	GLI3	High forehead	HP:0000348
2737	GLI3	Ventricular septal defect	HP:0001629
2737	GLI3	Atrial septal defect	HP:0001631
2737	GLI3	Tall stature	HP:0000098
2737	GLI3	Thyroid hypoplasia	HP:0005990
2737	GLI3	Posteriorly rotated ears	HP:0000358
2737	GLI3	Microtia	HP:0008551
2737	GLI3	Panhypopituitarism	HP:0000871
2737	GLI3	Patent ductus arteriosus	HP:0001643
2737	GLI3	Renal cyst	HP:0000107
2737	GLI3	Abnormality of earlobe	HP:0000363
2737	GLI3	Renal dysplasia	HP:0000110
2737	GLI3	Low-set, posteriorly rotated ears	HP:0000368
2737	GLI3	Intellectual disability, severe	HP:0010864
2737	GLI3	Nail dysplasia	HP:0002164
2737	GLI3	Hemivertebrae	HP:0002937
2737	GLI3	Abnormality of the clavicle	HP:0000889
2737	GLI3	Unilateral renal agenesis	HP:0000122
2737	GLI3	Short nose	HP:0003196
2737	GLI3	Hydronephrosis	HP:0000126
2737	GLI3	Mesoaxial foot polydactyly	HP:0010112
2737	GLI3	Brachydactyly	HP:0001156
2737	GLI3	Oligodactyly	HP:0012165
2737	GLI3	Rib fusion	HP:0000902
2737	GLI3	Syndactyly	HP:0001159
2737	GLI3	Postaxial hand polydactyly	HP:0001162
2737	GLI3	Hypothalamic hamartoma	HP:0002444
2737	GLI3	Coarctation of aorta	HP:0001680
2737	GLI3	Abnormal prolactin level	HP:0040086
2737	GLI3	Sensorineural hearing impairment	HP:0000407
2737	GLI3	Preaxial hand polydactyly	HP:0001177
2737	GLI3	Y-shaped metacarpals	HP:0006042
2737	GLI3	Atresia of the external auditory canal	HP:0000413
2737	GLI3	Depressed nasal bridge	HP:0005280
2737	GLI3	3-4 finger cutaneous syndactyly	HP:0011939
2737	GLI3	Preaxial polydactyly	HP:0100258
2737	GLI3	Cleft lip	HP:0410030
2737	GLI3	Radial bowing	HP:0002986
2737	GLI3	Microglossia	HP:0000171
2737	GLI3	Cleft palate	HP:0000175
2737	GLI3	Wide nasal bridge	HP:0000431
2737	GLI3	Triphalangeal thumb	HP:0001199
2737	GLI3	Midline facial capillary hemangioma	HP:0007601
2737	GLI3	1-3 toe syndactyly	HP:0001459
2737	GLI3	Recurrent upper and lower respiratory tract infections	HP:0200117
2737	GLI3	Natal tooth	HP:0000695
2737	GLI3	Accessory oral frenulum	HP:0000191
2737	GLI3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
2737	GLI3	Bifid uvula	HP:0000193
2737	GLI3	Choanal atresia	HP:0000453
2737	GLI3	Depressed nasal ridge	HP:0000457
2737	GLI3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
2737	GLI3	Cleft upper lip	HP:0000204
2737	GLI3	Bilateral renal agenesis	HP:0010958
2737	GLI3	Anteverted nares	HP:0000463
2737	GLI3	Abnormal basal ganglia MRI signal intensity	HP:0012751
2737	GLI3	Abnormality of muscle fibers	HP:0004303
2737	GLI3	3-4 finger syndactyly	HP:0006097
2737	GLI3	Mesomelia	HP:0003027
2737	GLI3	Finger syndactyly	HP:0006101
2737	GLI3	Central adrenal insufficiency	HP:0011734
2737	GLI3	Frontal bossing	HP:0002007
2737	GLI3	1-5 toe syndactyly	HP:0010713
2737	GLI3	Osteochondroma	HP:0030431
2737	GLI3	Intellectual disability	HP:0001249
2737	GLI3	Short stature	HP:0004322
2737	GLI3	Seizures	HP:0001250
2737	GLI3	Decreased circulating cortisol level	HP:0008163
2737	GLI3	Neonatal death	HP:0003811
2737	GLI3	Adrenocorticotropic hormone deficiency	HP:0011748
2737	GLI3	Hypoplasia of the epiglottis	HP:0005349
2737	GLI3	Polydactyly affecting the 3rd finger	HP:0009958
2737	GLI3	Anal atresia	HP:0002023
2737	GLI3	Intrauterine growth retardation	HP:0001511
2737	GLI3	Radial head subluxation	HP:0003048
2737	GLI3	Intellectual disability, mild	HP:0001256
2737	GLI3	Toe syndactyly	HP:0001770
2737	GLI3	Aplasia/hypoplasia of the uterus	HP:0008684
2737	GLI3	Paroxysmal bursts of laughter	HP:0000749
2737	GLI3	Downslanted palpebral fissures	HP:0000494
2737	GLI3	Hydrocephalus	HP:0000238
2737	GLI3	Global developmental delay	HP:0001263
2737	GLI3	Hirsutism	HP:0001007
2737	GLI3	Large for gestational age	HP:0001520
2737	GLI3	Accelerated skeletal maturation	HP:0005616
2737	GLI3	Trigonocephaly	HP:0000243
2737	GLI3	Polydactyly affecting the 4th finger	HP:0009971
2737	GLI3	Variable expressivity	HP:0003828
2737	GLI3	Bilateral postaxial polydactyly	HP:0006136
2737	GLI3	Abnormal corpus callosum morphology	HP:0001273
2737	GLI3	Agenesis of corpus callosum	HP:0001274
2737	GLI3	Telecanthus	HP:0000506
2737	GLI3	Ptosis	HP:0000508
2737	GLI3	Thyroid dysgenesis	HP:0008188
27315	PGAP2	Absent speech	HP:0001344
27315	PGAP2	Seizures	HP:0001250
27315	PGAP2	Autosomal recessive inheritance	HP:0000007
27315	PGAP2	Broad nasal tip	HP:0000455
27315	PGAP2	Intellectual disability, mild	HP:0001256
27315	PGAP2	Generalized hypotonia	HP:0001290
27315	PGAP2	Cerebral atrophy	HP:0002059
27315	PGAP2	Wide nasal bridge	HP:0000431
27315	PGAP2	Global developmental delay	HP:0001263
27315	PGAP2	Cleft palate	HP:0000175
27315	PGAP2	Intellectual disability, severe	HP:0010864
27315	PGAP2	Elevated alkaline phosphatase	HP:0003155
27315	PGAP2	Tented upper lip vermilion	HP:0010804
27315	PGAP2	Hyperphosphatemia	HP:0002905
27315	PGAP2	Congenital onset	HP:0003577
27315	PGAP2	Microcephaly	HP:0000252
27315	PGAP2	Short nose	HP:0003196
27316	RBMX	Narrow palpebral fissure	HP:0045025
27316	RBMX	Blepharophimosis	HP:0000581
27316	RBMX	Intellectual disability, moderate	HP:0002342
27316	RBMX	Obesity	HP:0001513
27316	RBMX	X-linked recessive inheritance	HP:0001419
27316	RBMX	Specific learning disability	HP:0001328
27316	RBMX	Prominent supraorbital ridges	HP:0000336
27316	RBMX	Macrotia	HP:0000400
27316	RBMX	Thick lower lip vermilion	HP:0000179
27316	RBMX	Macroorchidism	HP:0000053
27316	RBMX	Periorbital fullness	HP:0000629
27316	RBMX	Coarse facial features	HP:0000280
27316	RBMX	Bulbous nose	HP:0000414
2741	GLRA1	Umbilical hernia	HP:0001537
2741	GLRA1	Hyperreflexia	HP:0001347
2741	GLRA1	Autosomal dominant inheritance	HP:0000006
2741	GLRA1	Autosomal recessive inheritance	HP:0000007
2741	GLRA1	Hypokinesia	HP:0002375
2741	GLRA1	Gait disturbance	HP:0001288
2741	GLRA1	Infantile onset	HP:0003593
2741	GLRA1	Hip dislocation	HP:0002827
2741	GLRA1	Fasciculations	HP:0002380
2741	GLRA1	Nocturnal seizures	HP:0031951
2741	GLRA1	Rigidity	HP:0002063
2741	GLRA1	Aspiration	HP:0002835
2741	GLRA1	Inguinal hernia	HP:0000023
2741	GLRA1	Esophagitis	HP:0100633
2741	GLRA1	Exaggerated startle response	HP:0002267
2741	GLRA1	Muscle stiffness	HP:0003552
2741	GLRA1	Intellectual disability	HP:0001249
2741	GLRA1	Seizures	HP:0001250
2741	GLRA1	Ataxia	HP:0001251
2741	GLRA1	Gastroesophageal reflux	HP:0002020
2741	GLRA1	Spasticity	HP:0001257
2741	GLRA1	Joint stiffness	HP:0001387
2741	GLRA1	Hiatus hernia	HP:0002036
2741	GLRA1	Frequent falls	HP:0002359
2741	GLRA1	Apnea	HP:0002104
2741	GLRA1	Myoclonus	HP:0001336
2741	GLRA1	Sleep disturbance	HP:0002360
2741	GLRA1	Hypertonia	HP:0001276
84662	GLIS2	Autosomal recessive inheritance	HP:0000007
84662	GLIS2	Nephronophthisis	HP:0000090
84662	GLIS2	Tubular atrophy	HP:0000092
84662	GLIS2	Stage 5 chronic kidney disease	HP:0003774
2743	GLRB	Umbilical hernia	HP:0001537
2743	GLRB	Hyperreflexia	HP:0001347
2743	GLRB	Autosomal recessive inheritance	HP:0000007
2743	GLRB	Gait disturbance	HP:0001288
2743	GLRB	Infantile onset	HP:0003593
2743	GLRB	Hip dislocation	HP:0002827
2743	GLRB	Fasciculations	HP:0002380
2743	GLRB	Rigidity	HP:0002063
2743	GLRB	Esophagitis	HP:0100633
2743	GLRB	Exaggerated startle response	HP:0002267
2743	GLRB	Muscle stiffness	HP:0003552
2743	GLRB	Intellectual disability	HP:0001249
2743	GLRB	Myopia	HP:0000545
2743	GLRB	Seizures	HP:0001250
2743	GLRB	Ataxia	HP:0001251
2743	GLRB	Astigmatism	HP:0000483
2743	GLRB	Gastroesophageal reflux	HP:0002020
2743	GLRB	Spasticity	HP:0001257
2743	GLRB	Joint stiffness	HP:0001387
2743	GLRB	Hiatus hernia	HP:0002036
2743	GLRB	Esotropia	HP:0000565
2743	GLRB	Myoclonus	HP:0001336
2743	GLRB	Sleep disturbance	HP:0002360
2743	GLRB	Glabellar reflex	HP:0030904
2743	GLRB	Hypertonia	HP:0001276
84665	MYPN	EMG abnormality	HP:0003457
84665	MYPN	EMG: myopathic abnormalities	HP:0003458
84665	MYPN	Areflexia	HP:0001284
84665	MYPN	Facial palsy	HP:0010628
84665	MYPN	Narrow chest	HP:0000774
84665	MYPN	Autosomal dominant inheritance	HP:0000006
84665	MYPN	Autosomal recessive inheritance	HP:0000007
84665	MYPN	Clumsiness	HP:0002312
84665	MYPN	Generalized hypotonia	HP:0001290
84665	MYPN	Pes valgus	HP:0008081
84665	MYPN	Reduced systolic function	HP:0006673
84665	MYPN	Bradykinesia	HP:0002067
84665	MYPN	Narrow face	HP:0000275
84665	MYPN	Toe walking	HP:0040083
84665	MYPN	Neuromuscular dysphagia	HP:0002068
84665	MYPN	Long face	HP:0000276
84665	MYPN	Sensorineural hearing impairment	HP:0000407
84665	MYPN	Ventricular septal hypertrophy	HP:0005144
84665	MYPN	Polyhydramnios	HP:0001561
84665	MYPN	Reduced tendon reflexes	HP:0001315
84665	MYPN	Elevated serum creatine kinase	HP:0003236
84665	MYPN	Lower limb amyotrophy	HP:0007210
84665	MYPN	Lower limb muscle weakness	HP:0007340
84665	MYPN	Left ventricular hypertrophy	HP:0001712
84665	MYPN	Bulbar signs	HP:0002483
84665	MYPN	Difficulty walking	HP:0002355
84665	MYPN	Frequent falls	HP:0002359
84665	MYPN	Sinus tachycardia	HP:0011703
84665	MYPN	Aortic root aneurysm	HP:0002616
84665	MYPN	Respiratory insufficiency due to muscle weakness	HP:0002747
84665	MYPN	Hypertelorism	HP:0000316
84665	MYPN	Easy fatigability	HP:0003388
84665	MYPN	Gowers sign	HP:0003391
84665	MYPN	Feeding difficulties	HP:0011968
84665	MYPN	Facial diplegia	HP:0001349
84665	MYPN	Fetal akinesia sequence	HP:0001989
84665	MYPN	Central hypoventilation	HP:0007110
84665	MYPN	Nasal speech	HP:0001611
84665	MYPN	Abnormality of neutrophils	HP:0001874
84665	MYPN	Neck muscle weakness	HP:0000467
84665	MYPN	Waddling gait	HP:0002515
84665	MYPN	Palmoplantar keratoderma	HP:0000982
84665	MYPN	Nemaline bodies	HP:0003798
84665	MYPN	Difficulty running	HP:0009046
84665	MYPN	Breech presentation	HP:0001623
84665	MYPN	Exercise intolerance	HP:0003546
84665	MYPN	High palate	HP:0000218
84665	MYPN	Scoliosis	HP:0002650
84665	MYPN	Type 1 muscle fiber predominance	HP:0003803
84665	MYPN	Micrognathia	HP:0000347
84665	MYPN	Slow progression	HP:0003677
84665	MYPN	Generalized limb muscle atrophy	HP:0009055
84665	MYPN	Difficulty climbing stairs	HP:0003551
84665	MYPN	Muscle stiffness	HP:0003552
84665	MYPN	Pes cavus	HP:0001761
84665	MYPN	Increased muscle lipid content	HP:0009058
84665	MYPN	Mitral valve prolapse	HP:0001634
84665	MYPN	Talipes equinovarus	HP:0001762
84665	MYPN	Lipoatrophy	HP:0100578
84665	MYPN	Congestive heart failure	HP:0001635
84665	MYPN	Pes planus	HP:0001763
84665	MYPN	Increased variability in muscle fiber diameter	HP:0003557
84665	MYPN	Cardiomyopathy	HP:0001638
84665	MYPN	Hypertrophic cardiomyopathy	HP:0001639
84665	MYPN	Reduced vital capacity	HP:0002792
84665	MYPN	Limb muscle weakness	HP:0003690
84665	MYPN	Spinal rigidity	HP:0003306
84665	MYPN	Scapular winging	HP:0003691
84665	MYPN	Dilated cardiomyopathy	HP:0001644
84665	MYPN	Fatigable weakness of bulbar muscles	HP:0030192
84665	MYPN	Hyporeflexia	HP:0001265
84665	MYPN	Mildly elevated creatine kinase	HP:0008180
84665	MYPN	Arthrogryposis multiplex congenita	HP:0002804
84665	MYPN	Generalized amyotrophy	HP:0003700
84665	MYPN	Mitral regurgitation	HP:0001653
84665	MYPN	Poor head control	HP:0002421
84665	MYPN	Motor delay	HP:0001270
84665	MYPN	Atrial fibrillation	HP:0005110
84665	MYPN	Fatiguable weakness of proximal limb muscles	HP:0030200
84665	MYPN	Lumbar hyperlordosis	HP:0002938
84665	MYPN	Ptosis	HP:0000508
84665	MYPN	Slender build	HP:0001533
84665	MYPN	Myopathy	HP:0003198
84665	MYPN	Pectus excavatum	HP:0000767
84665	MYPN	Thoracic scoliosis	HP:0002943
2746	GLUD1	Intellectual disability	HP:0001249
2746	GLUD1	Heterogeneous	HP:0001425
2746	GLUD1	Asymptomatic hyperammonemia	HP:0008162
2746	GLUD1	Autosomal dominant inheritance	HP:0000006
2746	GLUD1	Hyperinsulinemic hypoglycemia	HP:0000825
2746	GLUD1	Hypoglycemic coma	HP:0001325
2746	GLUD1	Hypoglycemic seizures	HP:0002173
84667	HES7	Macrocephaly	HP:0000256
84667	HES7	Umbilical hernia	HP:0001537
84667	HES7	Short thorax	HP:0010306
84667	HES7	Meningocele	HP:0002435
84667	HES7	Abnormality of the ureter	HP:0000069
84667	HES7	Rib fusion	HP:0000902
84667	HES7	Autosomal recessive inheritance	HP:0000007
84667	HES7	Abnormality of female internal genitalia	HP:0000008
84667	HES7	Congenital diaphragmatic hernia	HP:0000776
84667	HES7	Camptodactyly of finger	HP:0100490
84667	HES7	Prominent occiput	HP:0000269
84667	HES7	Anteverted nares	HP:0000463
84667	HES7	Broad forehead	HP:0000337
84667	HES7	Anomalous pulmonary venous return	HP:0010772
84667	HES7	Finger syndactyly	HP:0006101
84667	HES7	Short neck	HP:0000470
84667	HES7	Inguinal hernia	HP:0000023
84667	HES7	Long philtrum	HP:0000343
84667	HES7	Missing ribs	HP:0000921
84667	HES7	Scoliosis	HP:0002650
84667	HES7	Cryptorchidism	HP:0000028
84667	HES7	Vertebral segmentation defect	HP:0003422
84667	HES7	Situs inversus totalis	HP:0001696
84667	HES7	Depressed nasal bridge	HP:0005280
84667	HES7	Intellectual disability	HP:0001249
84667	HES7	Short stature	HP:0004322
84667	HES7	Spina bifida occulta	HP:0003298
84667	HES7	Abnormality of immune system physiology	HP:0010978
84667	HES7	Intrauterine growth retardation	HP:0001511
84667	HES7	Block vertebrae	HP:0003305
84667	HES7	Myelomeningocele	HP:0002475
84667	HES7	Urogenital fistula	HP:0100589
84667	HES7	Respiratory insufficiency	HP:0002093
84667	HES7	Abnormality of the odontoid process	HP:0003310
84667	HES7	Cleft palate	HP:0000175
84667	HES7	Hypospadias	HP:0000047
84667	HES7	Abnormal form of the vertebral bodies	HP:0003312
84667	HES7	Low-set, posteriorly rotated ears	HP:0000368
84667	HES7	Unilateral vertebral artery hypoplasia	HP:0030323
84667	HES7	Abnormality of the intervertebral disk	HP:0005108
84667	HES7	Kyphosis	HP:0002808
84667	HES7	Hemivertebrae	HP:0002937
84667	HES7	Microcephaly	HP:0000252
84667	HES7	Restrictive deficit on pulmonary function testing	HP:0002111
84667	HES7	Rib segmentation abnormalities	HP:0006655
10939	AFG3L2	Gaze-evoked nystagmus	HP:0000640
10939	AFG3L2	Dysmetric saccades	HP:0000641
10939	AFG3L2	Skeletal muscle atrophy	HP:0003202
10939	AFG3L2	Slow saccadic eye movements	HP:0000514
10939	AFG3L2	Autosomal dominant inheritance	HP:0000006
10939	AFG3L2	Autosomal recessive inheritance	HP:0000007
10939	AFG3L2	Spastic paraparesis	HP:0002313
10939	AFG3L2	Infantile onset	HP:0003593
10939	AFG3L2	Rigidity	HP:0002063
10939	AFG3L2	Oculomotor apraxia	HP:0000657
10939	AFG3L2	Gait ataxia	HP:0002066
10939	AFG3L2	Limb dystonia	HP:0002451
10939	AFG3L2	Parkinsonism	HP:0001300
10939	AFG3L2	Generalized tonic-clonic seizures	HP:0002069
10939	AFG3L2	Peripheral axonal neuropathy	HP:0003477
10939	AFG3L2	Limb ataxia	HP:0002070
10939	AFG3L2	Dysdiadochokinesis	HP:0002075
10939	AFG3L2	Distal muscle weakness	HP:0002460
10939	AFG3L2	Dysmetria	HP:0001310
10939	AFG3L2	Babinski sign	HP:0003487
10939	AFG3L2	Spastic dysarthria	HP:0002464
10939	AFG3L2	Cerebellar hypoplasia	HP:0001321
10939	AFG3L2	Head tremor	HP:0002346
10939	AFG3L2	Muscle weakness	HP:0001324
10939	AFG3L2	Lower limb muscle weakness	HP:0007340
10939	AFG3L2	EEG abnormality	HP:0002353
10939	AFG3L2	Memory impairment	HP:0002354
10939	AFG3L2	Dystonia	HP:0001332
10939	AFG3L2	Myoclonus	HP:0001336
10939	AFG3L2	Cognitive impairment	HP:0100543
10939	AFG3L2	Spastic ataxia	HP:0002497
10939	AFG3L2	Demyelinating peripheral neuropathy	HP:0007108
10939	AFG3L2	Generalized myoclonic seizures	HP:0002123
10939	AFG3L2	Depressivity	HP:0000716
10939	AFG3L2	Increased intramyocellular lipid droplets	HP:0012240
10939	AFG3L2	Ophthalmoparesis	HP:0000597
10939	AFG3L2	Lower limb hyperreflexia	HP:0002395
10939	AFG3L2	Progressive	HP:0003676
10939	AFG3L2	Slow progression	HP:0003677
10939	AFG3L2	Dysphagia	HP:0002015
10939	AFG3L2	Sensorimotor neuropathy	HP:0007141
10939	AFG3L2	Intellectual disability, mild	HP:0001256
10939	AFG3L2	Spasticity	HP:0001257
10939	AFG3L2	Kinetic tremor	HP:0030186
10939	AFG3L2	Dysarthria	HP:0001260
10939	AFG3L2	Distal amyotrophy	HP:0003693
10939	AFG3L2	Variable expressivity	HP:0003828
10939	AFG3L2	Cerebellar atrophy	HP:0001272
10939	AFG3L2	Ptosis	HP:0000508
10939	AFG3L2	Hypertonia	HP:0001276
10939	AFG3L2	Abnormal mitochondria in muscle tissue	HP:0008316
10939	AFG3L2	Nystagmus	HP:0000639
10940	POP1	Small nail	HP:0001792
10940	POP1	Short femoral neck	HP:0100864
10940	POP1	Relative macrocephaly	HP:0004482
10940	POP1	Hypoplasia of the femoral head	HP:0008802
10940	POP1	Brachydactyly	HP:0001156
10940	POP1	Ovoid vertebral bodies	HP:0003300
10940	POP1	Sparse hair	HP:0008070
10940	POP1	Autosomal recessive inheritance	HP:0000007
10940	POP1	Hyperlordosis	HP:0003307
10940	POP1	Coxa valga	HP:0002673
10940	POP1	Shield chest	HP:0000914
10940	POP1	Nail dysplasia	HP:0002164
10940	POP1	Cervical spine instability	HP:0010646
10940	POP1	Short neck	HP:0000470
10940	POP1	Cubitus valgus	HP:0002967
10940	POP1	Midface retrusion	HP:0011800
10940	POP1	Hypoplastic iliac body	HP:0008824
10940	POP1	Flexion contracture	HP:0001371
10940	POP1	Coxa vara	HP:0002812
10940	POP1	Hypodontia	HP:0000668
10940	POP1	Delayed skeletal maturation	HP:0002750
10940	POP1	Metaphyseal dysplasia	HP:0100255
10940	POP1	Macroglossia	HP:0000158
10940	POP1	Thoracolumbar kyphoscoliosis	HP:0003423
84668	FAM126A	Truncal titubation	HP:0030147
84668	FAM126A	Hyperreflexia	HP:0001347
84668	FAM126A	Developmental cataract	HP:0000519
84668	FAM126A	Autosomal recessive inheritance	HP:0000007
84668	FAM126A	Infantile onset	HP:0003593
84668	FAM126A	Abnormal pyramidal sign	HP:0007256
84668	FAM126A	Cerebral hypomyelination	HP:0006808
84668	FAM126A	Cerebral white matter atrophy	HP:0012762
84668	FAM126A	Scoliosis	HP:0002650
84668	FAM126A	Babinski sign	HP:0003487
84668	FAM126A	Intention tremor	HP:0002080
84668	FAM126A	Intellectual disability	HP:0001249
84668	FAM126A	Seizures	HP:0001250
84668	FAM126A	Abnormal cerebellum morphology	HP:0001317
84668	FAM126A	Intellectual disability, moderate	HP:0002342
84668	FAM126A	Decreased motor nerve conduction velocity	HP:0003431
84668	FAM126A	Muscular hypotonia of the trunk	HP:0008936
84668	FAM126A	Lower limb amyotrophy	HP:0007210
84668	FAM126A	Lower limb muscle weakness	HP:0007340
84668	FAM126A	Dysarthria	HP:0001260
84668	FAM126A	Loss of ability to walk	HP:0006957
84668	FAM126A	Global developmental delay	HP:0001263
84668	FAM126A	Leukodystrophy	HP:0002415
84668	FAM126A	Variable expressivity	HP:0003828
84668	FAM126A	Motor delay	HP:0001270
84668	FAM126A	Polyneuropathy	HP:0001271
84668	FAM126A	Onion bulb formation	HP:0003383
2752	GLUL	Depressed nasal bridge	HP:0005280
2752	GLUL	Seizures	HP:0001250
2752	GLUL	Hyperreflexia	HP:0001347
2752	GLUL	Hyperammonemia	HP:0001987
2752	GLUL	Periventricular cysts	HP:0007109
2752	GLUL	CNS hypomyelination	HP:0003429
2752	GLUL	Micromelia	HP:0002983
2752	GLUL	Autosomal recessive inheritance	HP:0000007
2752	GLUL	Ventriculomegaly	HP:0002119
2752	GLUL	Generalized hypotonia	HP:0001290
2752	GLUL	Respiratory insufficiency	HP:0002093
2752	GLUL	Wide nasal bridge	HP:0000431
2752	GLUL	Severe global developmental delay	HP:0011344
2752	GLUL	Subependymal cysts	HP:0002416
2752	GLUL	Low-set ears	HP:0000369
2752	GLUL	Death in infancy	HP:0001522
2752	GLUL	Encephalopathy	HP:0001298
2752	GLUL	Apnea	HP:0002104
2752	GLUL	Flexion contracture	HP:0001371
2752	GLUL	Brain atrophy	HP:0012444
2752	GLUL	Skin rash	HP:0000988
2752	GLUL	Bradycardia	HP:0001662
2752	GLUL	Hypoplasia of the corpus callosum	HP:0002079
27329	ANGPTL3	Autosomal dominant inheritance	HP:0000006
27329	ANGPTL3	Autosomal recessive inheritance	HP:0000007
27329	ANGPTL3	Hypotriglyceridemia	HP:0012153
27329	ANGPTL3	Decreased LDL cholesterol concentration	HP:0003563
2760	GM2A	Postnatal growth retardation	HP:0008897
2760	GM2A	Punctate periventricular T2 hyperintense foci	HP:0030081
2760	GM2A	Hyperreflexia	HP:0001347
2760	GM2A	Loss of speech	HP:0002371
2760	GM2A	Abnormal involuntary eye movements	HP:0012547
2760	GM2A	Neurodegeneration	HP:0002180
2760	GM2A	Spastic tetraparesis	HP:0001285
2760	GM2A	Autosomal recessive inheritance	HP:0000007
2760	GM2A	Developmental regression	HP:0002376
2760	GM2A	Generalized hypotonia	HP:0001290
2760	GM2A	Cerebral atrophy	HP:0002059
2760	GM2A	Paralysis	HP:0003470
2760	GM2A	Inappropriate behavior	HP:0000719
2760	GM2A	Aspiration	HP:0002835
2760	GM2A	Dementia	HP:0000726
2760	GM2A	Chorea	HP:0002072
2760	GM2A	Abnormal pyramidal sign	HP:0007256
2760	GM2A	Pseudobulbar signs	HP:0002200
2760	GM2A	Exaggerated startle response	HP:0002267
2760	GM2A	Hyperacusis	HP:0010780
2760	GM2A	Seizures	HP:0001250
2760	GM2A	Short stature	HP:0004322
2760	GM2A	Anxiety	HP:0000739
2760	GM2A	Muscular hypotonia	HP:0001252
2760	GM2A	Apathy	HP:0000741
2760	GM2A	Infantile axial hypotonia	HP:0009062
2760	GM2A	GM2-ganglioside accumulation	HP:0003495
2760	GM2A	Muscular hypotonia of the trunk	HP:0008936
2760	GM2A	Cherry red spot of the macula	HP:0010729
2760	GM2A	Blindness	HP:0000618
2760	GM2A	Primitive reflex	HP:0002476
2760	GM2A	Progressive spastic quadriplegia	HP:0002478
2760	GM2A	Global developmental delay	HP:0001263
2760	GM2A	Dystonia	HP:0001332
2760	GM2A	Variable expressivity	HP:0003828
2760	GM2A	Poor head control	HP:0002421
2760	GM2A	Glabellar reflex	HP:0030904
2760	GM2A	Hypertonia	HP:0001276
2760	GM2A	Cognitive impairment	HP:0100543
387787	LIPT2	Absent speech	HP:0001344
387787	LIPT2	Delayed myelination	HP:0012448
387787	LIPT2	Profound global developmental delay	HP:0012736
387787	LIPT2	Seizures	HP:0001250
387787	LIPT2	Renal cortical cysts	HP:0000803
387787	LIPT2	Periventricular cysts	HP:0007109
387787	LIPT2	Spastic tetraparesis	HP:0001285
387787	LIPT2	Increased serum lactate	HP:0002151
387787	LIPT2	Cerebral cortical atrophy	HP:0002120
387787	LIPT2	EEG abnormality	HP:0002353
387787	LIPT2	Encephalopathy	HP:0001298
387787	LIPT2	Hyperalaninemia	HP:0003348
387787	LIPT2	Dystonia	HP:0001332
387787	LIPT2	Increased serum pyruvate	HP:0003542
387787	LIPT2	Congenital onset	HP:0003577
2767	GNA11	Hypercalcemia	HP:0003072
2767	GNA11	EMG abnormality	HP:0003457
2767	GNA11	Iris melanoma	HP:0011524
2767	GNA11	Autosomal dominant inheritance	HP:0000006
2767	GNA11	Primary hyperparathyroidism	HP:0008200
2767	GNA11	Optic atrophy	HP:0000648
2767	GNA11	Fatigable weakness	HP:0003473
2767	GNA11	Nephrolithiasis	HP:0000787
2767	GNA11	Reduced consciousness/confusion	HP:0004372
2767	GNA11	Choroidal melanoma	HP:0012054
2767	GNA11	Ciliary body melanoma	HP:0012055
2767	GNA11	Abnormality of refraction	HP:0000539
2767	GNA11	Arrhythmia	HP:0011675
2767	GNA11	Retinal detachment	HP:0000541
2767	GNA11	Chondrocalcinosis	HP:0000934
2767	GNA11	Zonular cataract	HP:0010920
2767	GNA11	Peptic ulcer	HP:0004398
2767	GNA11	Inferior lens subluxation	HP:0008494
2767	GNA11	Inflammatory abnormality of the eye	HP:0100533
2767	GNA11	Writer's cramp	HP:0002356
2767	GNA11	Hypocalciuria	HP:0003127
2767	GNA11	Hypotension	HP:0002615
2767	GNA11	Visual loss	HP:0000572
2767	GNA11	Alopecia	HP:0001596
2767	GNA11	Dry skin	HP:0000958
2767	GNA11	Hypermagnesiuria	HP:0012608
2767	GNA11	Postnatal growth retardation	HP:0008897
2767	GNA11	Photopsia	HP:0030786
2767	GNA11	Muscle spasm	HP:0003394
2767	GNA11	Eczema	HP:0000964
2767	GNA11	Pancreatitis	HP:0001733
2767	GNA11	Emotional lability	HP:0000712
2767	GNA11	Parathormone-independent increased renal tubular calcium reabsorption	HP:0003529
2767	GNA11	Paresthesia	HP:0003401
2767	GNA11	Depressivity	HP:0000716
2767	GNA11	Abnormal fingernail morphology	HP:0001231
2767	GNA11	Abnormal visual accommodation	HP:0030800
2767	GNA11	Increased intracranial pressure	HP:0002516
2767	GNA11	Cortical myoclonus	HP:0040148
2767	GNA11	Hypocalcemia	HP:0002901
2767	GNA11	Basal ganglia calcification	HP:0002135
2767	GNA11	Ocular pain	HP:0200026
2767	GNA11	Hyperphosphatemia	HP:0002905
2767	GNA11	Metamorphopsia	HP:0012508
2767	GNA11	Vitreous hemorrhage	HP:0007902
2767	GNA11	Ocular hypertension	HP:0007906
2767	GNA11	Anxiety	HP:0000739
2767	GNA11	Congestive heart failure	HP:0001635
2767	GNA11	Hypomagnesemia	HP:0002917
2767	GNA11	Hypermagnesemia	HP:0002918
2767	GNA11	Hypercalciuria	HP:0002150
2767	GNA11	Irregular hyperpigmentation	HP:0007400
2767	GNA11	Abnormal pattern of respiration	HP:0002793
2767	GNA11	Mydriasis	HP:0011499
2767	GNA11	Abdominal pain	HP:0002027
2767	GNA11	Multiple lipomas	HP:0001012
2767	GNA11	Nephrocalcinosis	HP:0000121
2767	GNA11	Reduced bone mineral density	HP:0004349
2771	GNAI2	Right bundle branch block	HP:0011712
2771	GNAI2	Abnormality of metabolism/homeostasis	HP:0001939
2771	GNAI2	Autosomal dominant inheritance	HP:0000006
2771	GNAI2	Sudden cardiac death	HP:0001645
2771	GNAI2	Paroxysmal ventricular tachycardia	HP:0004751
84693	MCEE	Methylmalonic acidemia	HP:0002912
84693	MCEE	Failure to thrive	HP:0001508
84693	MCEE	Gastroesophageal reflux	HP:0002020
84693	MCEE	Metabolic acidosis	HP:0001942
84693	MCEE	Ketonuria	HP:0002919
84693	MCEE	Autosomal recessive inheritance	HP:0000007
84693	MCEE	Dehydration	HP:0001944
84693	MCEE	Methylmalonic aciduria	HP:0012120
2773	GNAI3	Preauricular skin tag	HP:0000384
2773	GNAI3	Macrocephaly	HP:0000256
2773	GNAI3	Feeding difficulties	HP:0011968
2773	GNAI3	Speech articulation difficulties	HP:0009088
2773	GNAI3	Bifid uvula	HP:0000193
2773	GNAI3	Abnormality of the temporomandibular joint	HP:0010754
2773	GNAI3	Aplasia/Hypoplasia of the external ear	HP:0008772
2773	GNAI3	Facial asymmetry	HP:0000324
2773	GNAI3	Question mark ear	HP:0030022
2773	GNAI3	Autosomal dominant inheritance	HP:0000006
2773	GNAI3	Generalized hypotonia	HP:0001290
2773	GNAI3	Mandibular condyle aplasia	HP:0007627
2773	GNAI3	Mandibular condyle hypoplasia	HP:0007628
2773	GNAI3	Anterior open-bite malocclusion	HP:0009102
2773	GNAI3	Stenosis of the external auditory canal	HP:0000402
2773	GNAI3	Cleft at the superior portion of the pinna	HP:0008537
2773	GNAI3	Hamartoma of tongue	HP:0011802
2773	GNAI3	Micrognathia	HP:0000347
2773	GNAI3	Narrow mouth	HP:0000160
2773	GNAI3	Impaired mastication	HP:0005216
2773	GNAI3	Glossoptosis	HP:0000162
2773	GNAI3	Postauricular skin tag	HP:0004451
2773	GNAI3	Full cheeks	HP:0000293
2773	GNAI3	Ankylosis	HP:0031013
2773	GNAI3	Overfolding of the superior helices	HP:0004453
2773	GNAI3	Dental crowding	HP:0000678
2773	GNAI3	Posteriorly rotated ears	HP:0000358
2773	GNAI3	Abnormality of the crus of the helix	HP:0009895
2773	GNAI3	Microglossia	HP:0000171
2773	GNAI3	Hearing impairment	HP:0000365
2773	GNAI3	Cleft helix	HP:0009902
2773	GNAI3	Cleft palate	HP:0000175
2773	GNAI3	Global developmental delay	HP:0001263
2773	GNAI3	Hypoplastic superior helix	HP:0008559
2773	GNAI3	Low-set, posteriorly rotated ears	HP:0000368
2773	GNAI3	Dental malocclusion	HP:0000689
2773	GNAI3	Low-set ears	HP:0000369
2773	GNAI3	Respiratory distress	HP:0002098
2773	GNAI3	Snoring	HP:0025267
2773	GNAI3	Periauricular skin pits	HP:0100277
2773	GNAI3	Obstructive sleep apnea	HP:0002870
2773	GNAI3	Difficulty in tongue movements	HP:0000183
2773	GNAI3	Round face	HP:0000311
2773	GNAI3	Apnea	HP:0002104
2773	GNAI3	Vein of Galen aneurysmal malformation	HP:0030713
2773	GNAI3	Cupped ear	HP:0000378
2773	GNAI3	External ear malformation	HP:0008572
2773	GNAI3	Ptosis	HP:0000508
2774	GNAL	Lingual dystonia	HP:0031008
2774	GNAL	Laryngeal dystonia	HP:0012049
2774	GNAL	Axial dystonia	HP:0002530
2774	GNAL	Limb dystonia	HP:0002451
2774	GNAL	Autosomal dominant inheritance	HP:0000006
2774	GNAL	Torticollis	HP:0000473
2775	GNAO1	Absent speech	HP:0001344
2775	GNAO1	Delayed myelination	HP:0012448
2775	GNAO1	Intellectual disability	HP:0001249
2775	GNAO1	Athetosis	HP:0002305
2775	GNAO1	Seizures	HP:0001250
2775	GNAO1	Generalized tonic seizures	HP:0010818
2775	GNAO1	Epileptic encephalopathy	HP:0200134
2775	GNAO1	Autosomal dominant inheritance	HP:0000006
2775	GNAO1	Ventriculomegaly	HP:0002119
2775	GNAO1	Spasticity	HP:0001257
2775	GNAO1	Cerebral atrophy	HP:0002059
2775	GNAO1	Global developmental delay	HP:0001263
2775	GNAO1	Dystonia	HP:0001332
2775	GNAO1	Poor head control	HP:0002421
2775	GNAO1	Dyskinesia	HP:0100660
2775	GNAO1	Hyperkinesis	HP:0002487
2775	GNAO1	Chorea	HP:0002072
2775	GNAO1	Hypsarrhythmia	HP:0002521
2775	GNAO1	Microcephaly	HP:0000252
2775	GNAO1	Hypoplasia of the corpus callosum	HP:0002079
2776	GNAQ	Macrocephaly	HP:0000256
2776	GNAQ	Abnormality of the upper limb	HP:0002817
2776	GNAQ	Arnold-Chiari malformation	HP:0002308
2776	GNAQ	Iris melanoma	HP:0011524
2776	GNAQ	Autosomal dominant inheritance	HP:0000006
2776	GNAQ	Optic atrophy	HP:0000648
2776	GNAQ	Hypermelanotic macule	HP:0001034
2776	GNAQ	Abnormal cranial nerve morphology	HP:0001291
2776	GNAQ	Conjunctival telangiectasia	HP:0000524
2776	GNAQ	Stroke	HP:0001297
2776	GNAQ	Choroidal melanoma	HP:0012054
2776	GNAQ	Ciliary body melanoma	HP:0012055
2776	GNAQ	Visceral angiomatosis	HP:0100761
2776	GNAQ	Abnormality of refraction	HP:0000539
2776	GNAQ	Arrhythmia	HP:0011675
2776	GNAQ	Pulmonary embolism	HP:0002204
2776	GNAQ	Nevus flammeus	HP:0001052
2776	GNAQ	Retinal detachment	HP:0000541
2776	GNAQ	Sporadic	HP:0003745
2776	GNAQ	Hyperostosis	HP:0100774
2776	GNAQ	Zonular cataract	HP:0010920
2776	GNAQ	Venous insufficiency	HP:0005293
2776	GNAQ	Buphthalmos	HP:0000557
2776	GNAQ	Inferior lens subluxation	HP:0008494
2776	GNAQ	Inflammatory abnormality of the eye	HP:0100533
2776	GNAQ	Capillary hemangioma	HP:0005306
2776	GNAQ	Arteriovenous malformation	HP:0100026
2776	GNAQ	Visual loss	HP:0000572
2776	GNAQ	Arachnoid hemangiomatosis	HP:0012222
2776	GNAQ	Choroidal hemangioma	HP:0007872
2776	GNAQ	Photopsia	HP:0030786
2776	GNAQ	Hyperreflexia	HP:0001347
2776	GNAQ	Cerebral cortical atrophy	HP:0002120
2776	GNAQ	Venous thrombosis	HP:0004936
2776	GNAQ	Edema	HP:0000969
2776	GNAQ	Facial hemangioma	HP:0000329
2776	GNAQ	Heterochromia iridis	HP:0001100
2776	GNAQ	Lower limb asymmetry	HP:0100559
2776	GNAQ	Abnormal visual accommodation	HP:0030800
2776	GNAQ	Cerebral calcification	HP:0002514
2776	GNAQ	Gingival overgrowth	HP:0000212
2776	GNAQ	Hemianopia	HP:0012377
2776	GNAQ	Autistic behavior	HP:0000729
2776	GNAQ	Ocular pain	HP:0200026
2776	GNAQ	Scoliosis	HP:0002650
2776	GNAQ	Metamorphopsia	HP:0012508
2776	GNAQ	Vitreous hemorrhage	HP:0007902
2776	GNAQ	Dysphagia	HP:0002015
2776	GNAQ	Intellectual disability	HP:0001249
2776	GNAQ	Papule	HP:0200034
2776	GNAQ	Abnormal choroid morphology	HP:0000610
2776	GNAQ	Seizures	HP:0001250
2776	GNAQ	Ocular hypertension	HP:0007906
2776	GNAQ	Iris coloboma	HP:0000612
2776	GNAQ	Strabismus	HP:0000486
2776	GNAQ	Skin ulcer	HP:0200042
2776	GNAQ	Attention deficit hyperactivity disorder	HP:0007018
2776	GNAQ	Blindness	HP:0000618
2776	GNAQ	Corneal dystrophy	HP:0001131
2776	GNAQ	Mydriasis	HP:0011499
2776	GNAQ	Hearing abnormality	HP:0000364
2776	GNAQ	Hydrocephalus	HP:0000238
2776	GNAQ	Abnormal retinal vascular morphology	HP:0008046
2776	GNAQ	Glaucoma	HP:0000501
2776	GNAQ	Hemiparesis	HP:0001269
2776	GNAQ	Neurological speech impairment	HP:0002167
2776	GNAQ	Intracranial hemorrhage	HP:0002170
2776	GNAQ	Hemiplegia	HP:0002301
2778	GNAS	Macrocephaly	HP:0000256
2778	GNAS	Cataract	HP:0000518
2778	GNAS	Autosomal dominant inheritance	HP:0000006
2778	GNAS	Confusion	HP:0001289
2778	GNAS	Infantile onset	HP:0003593
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	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	Ankylosis	HP:0031013
2778	GNAS	Macronodular adrenal hyperplasia	HP:0008231
2778	GNAS	Short toe	HP:0001831
2778	GNAS	Mood changes	HP:0001575
2778	GNAS	Long penis	HP:0000040
2778	GNAS	Striae distensae	HP:0001065
2778	GNAS	Meningioma	HP:0002858
2778	GNAS	Broad 1st metacarpal	HP:0010027
2778	GNAS	Primary hypercortisolism	HP:0001579
2778	GNAS	Muscle weakness	HP:0001324
2778	GNAS	Dyspnea	HP:0002094
2778	GNAS	Increased circulating cortisol level	HP:0003118
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	Dyskinesia	HP:0100660
2778	GNAS	Macroorchidism	HP:0000053
2778	GNAS	Hypothyroidism	HP:0000821
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	Short 5th metacarpal	HP:0010047
2778	GNAS	Short metacarpal	HP:0010049
2778	GNAS	Muscle spasm	HP:0003394
2778	GNAS	Increased bone density with cystic changes	HP:0005700
2778	GNAS	Hyperthyroidism	HP:0000836
2778	GNAS	Facial asymmetry	HP:0000324
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	Hyperostosis frontalis interna	HP:0004438
2778	GNAS	Basal ganglia calcification	HP:0002135
2778	GNAS	Hyperphosphatemia	HP:0002905
2778	GNAS	Fatigue	HP:0012378
2778	GNAS	Skeletal dysplasia	HP:0002652
2778	GNAS	Progressive	HP:0003676
2778	GNAS	Bone pain	HP:0002653
2778	GNAS	Elevated circulating parathyroid hormone level	HP:0003165
2778	GNAS	Abnormal platelet function	HP:0011869
2778	GNAS	Elevated hepatic transaminase	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	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	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	Sarcoma	HP:0100242
2778	GNAS	Polycystic ovaries	HP:0000147
2778	GNAS	Hypocalcemic seizures	HP:0002199
2778	GNAS	Osteoma	HP:0100246
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	Abnormality of dental enamel	HP:0000682
2778	GNAS	Broad distal phalanx of the thumb	HP:0009642
2778	GNAS	Osteopenia	HP:0000938
2778	GNAS	Osteoporosis	HP:0000939
2778	GNAS	Delayed eruption of teeth	HP:0000684
2778	GNAS	Neoplasm of the breast	HP:0100013
2778	GNAS	Abnormal palate morphology	HP:0000174
2778	GNAS	Calcinosis	HP:0003761
2778	GNAS	Generalized hirsutism	HP:0002230
2778	GNAS	Cognitive impairment	HP:0100543
2778	GNAS	Neoplasm of the thyroid gland	HP:0100031
2778	GNAS	Abdominal symptom	HP:0011458
2778	GNAS	Prolonged bleeding time	HP:0003010
2778	GNAS	Osteoma cutis	HP:0025027
2778	GNAS	Abnormality of the musculature	HP:0003011
2778	GNAS	Thin skin	HP:0000963
2778	GNAS	Pathologic fracture	HP:0002756
2778	GNAS	Recurrent fractures	HP:0002757
2778	GNAS	Psychosis	HP:0000709
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	Ectopic ossification	HP:0011986
2778	GNAS	Bruising susceptibility	HP:0000978
2778	GNAS	Ectopic ossification in muscle tissue	HP:0011987
2778	GNAS	Short neck	HP:0000470
2778	GNAS	Diaphyseal sclerosis	HP:0003034
2778	GNAS	Irritability	HP:0000737
2778	GNAS	Intellectual disability	HP:0001249
2778	GNAS	Short stature	HP:0004322
2778	GNAS	Seizures	HP:0001250
2778	GNAS	Anxiety	HP:0000739
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	Hyporeflexia	HP:0001265
2778	GNAS	Choreoathetosis	HP:0001266
2778	GNAS	Variable expressivity	HP:0003828
2778	GNAS	Mental deterioration	HP:0001268
2778	GNAS	Short metatarsal	HP:0010743
2778	GNAS	Abnormality of vision	HP:0000504
2778	GNAS	Kyphosis	HP:0002808
2778	GNAS	Increased bone mineral density	HP:0011001
2778	GNAS	Conjunctivitis	HP:0000509
2778	GNAS	Reduced bone mineral density	HP:0004349
2778	GNAS	Adult onset	HP:0003581
2779	GNAT1	Abnormality of macular pigmentation	HP:0008002
2779	GNAT1	Autosomal dominant inheritance	HP:0000006
2779	GNAT1	Optic disc hypoplasia	HP:0007766
2779	GNAT1	Nyctalopia	HP:0000662
2779	GNAT1	Strabismus	HP:0000486
2779	GNAT1	Autosomal recessive inheritance	HP:0000007
2779	GNAT1	Blindness	HP:0000618
2779	GNAT1	Congenital stationary night blindness	HP:0007642
2779	GNAT1	High myopia	HP:0011003
2779	GNAT1	Optic disc pallor	HP:0000543
2779	GNAT1	Nystagmus	HP:0000639
2779	GNAT1	Reduced visual acuity	HP:0007663
2780	GNAT2	Abnormal electroretinogram	HP:0000512
2780	GNAT2	Exotropia	HP:0000577
2780	GNAT2	Attenuation of retinal blood vessels	HP:0007843
2780	GNAT2	Blue cone monochromacy	HP:0007939
2780	GNAT2	Photophobia	HP:0000613
2780	GNAT2	Hypoplasia of the fovea	HP:0007750
2780	GNAT2	Color vision defect	HP:0000551
2780	GNAT2	Autosomal recessive inheritance	HP:0000007
2780	GNAT2	Retinal pigment epithelial atrophy	HP:0007722
2780	GNAT2	Pendular nystagmus	HP:0012043
2780	GNAT2	Granular macular appearance	HP:0007793
2780	GNAT2	Abnormality of retinal pigmentation	HP:0007703
2780	GNAT2	Visual impairment	HP:0000505
2780	GNAT2	Dyschromatopsia	HP:0007641
2780	GNAT2	Central scotoma	HP:0000603
2780	GNAT2	Hypermetropia	HP:0000540
2780	GNAT2	Achromatopsia	HP:0011516
2780	GNAT2	Nystagmus	HP:0000639
84701	COX4I2	Hepatomegaly	HP:0002240
84701	COX4I2	Failure to thrive	HP:0001508
84701	COX4I2	Autosomal recessive inheritance	HP:0000007
84701	COX4I2	Infantile onset	HP:0003593
84701	COX4I2	Osteopenia	HP:0000938
84701	COX4I2	Calvarial hyperostosis	HP:0004490
84701	COX4I2	Exocrine pancreatic insufficiency	HP:0001738
84701	COX4I2	Steatorrhea	HP:0002570
84701	COX4I2	Malnutrition	HP:0004395
84701	COX4I2	Global developmental delay	HP:0001263
84701	COX4I2	Anemia	HP:0001903
84701	COX4I2	Splenomegaly	HP:0001744
84701	COX4I2	Asthma	HP:0002099
84701	COX4I2	Jaundice	HP:0000952
84701	COX4I2	Allergic rhinitis	HP:0003193
84701	COX4I2	Skin rash	HP:0000988
84701	COX4I2	Anemia of inadequate production	HP:0010972
84701	COX4I2	Delayed skeletal maturation	HP:0002750
84701	COX4I2	Carious teeth	HP:0000670
84700	MYO18B	Thoracolumbar scoliosis	HP:0002944
84700	MYO18B	Fused cervical vertebrae	HP:0002949
84700	MYO18B	Cardiomyopathy	HP:0001638
84700	MYO18B	Acetabular dysplasia	HP:0008807
84700	MYO18B	Autosomal recessive inheritance	HP:0000007
84700	MYO18B	Everted lower lip vermilion	HP:0000232
84700	MYO18B	Generalized hypotonia	HP:0001290
84700	MYO18B	Mild short stature	HP:0003502
84700	MYO18B	Underdeveloped nasal alae	HP:0000430
84700	MYO18B	Low-set ears	HP:0000369
84700	MYO18B	Webbed neck	HP:0000465
84700	MYO18B	Low posterior hairline	HP:0002162
84700	MYO18B	Short neck	HP:0000470
84700	MYO18B	Nemaline bodies	HP:0003798
84700	MYO18B	Long philtrum	HP:0000343
84700	MYO18B	High palate	HP:0000218
84700	MYO18B	Thin upper lip vermilion	HP:0000219
84700	MYO18B	Micrognathia	HP:0000347
84700	MYO18B	Microcephaly	HP:0000252
84700	MYO18B	Ptosis	HP:0000508
84700	MYO18B	Bulbous nose	HP:0000414
84700	MYO18B	Myopathy	HP:0003198
2782	GNB1	Feeding difficulties	HP:0011968
2782	GNB1	Acute lymphoblastic leukemia	HP:0006721
2782	GNB1	Autosomal dominant inheritance	HP:0000006
2782	GNB1	Developmental regression	HP:0002376
2782	GNB1	Infantile onset	HP:0003593
2782	GNB1	Generalized hypotonia	HP:0001290
2782	GNB1	Overfolded helix	HP:0000396
2782	GNB1	Limb hypertonia	HP:0002509
2782	GNB1	Polymicrogyria	HP:0002126
2782	GNB1	Focal impaired awareness seizure	HP:0002384
2782	GNB1	Generalized tonic-clonic seizures	HP:0002069
2782	GNB1	Multifocal epileptiform discharges	HP:0010841
2782	GNB1	High palate	HP:0000218
2782	GNB1	Impaired smooth pursuit	HP:0007772
2782	GNB1	Delayed myelination	HP:0012448
2782	GNB1	Intellectual disability	HP:0001249
2782	GNB1	Cerebral visual impairment	HP:0100704
2782	GNB1	Seizures	HP:0001250
2782	GNB1	Failure to thrive	HP:0001508
2782	GNB1	Strabismus	HP:0000486
2782	GNB1	Polygenic inheritance	HP:0010982
2782	GNB1	Growth delay	HP:0001510
2782	GNB1	Expressive language delay	HP:0002474
2782	GNB1	Inability to walk	HP:0002540
2782	GNB1	Cleft palate	HP:0000175
2782	GNB1	Global developmental delay	HP:0001263
2782	GNB1	EEG abnormality	HP:0002353
2782	GNB1	Infantile muscular hypotonia	HP:0008947
2782	GNB1	Hydronephrosis	HP:0000126
2782	GNB1	EEG with generalized epileptiform discharges	HP:0011198
2782	GNB1	Nystagmus	HP:0000639
2782	GNB1	Pectus excavatum	HP:0000767
84705	GTPBP3	Feeding difficulties	HP:0011968
84705	GTPBP3	Seizures	HP:0001250
84705	GTPBP3	Congestive heart failure	HP:0001635
84705	GTPBP3	Cardiomyopathy	HP:0001638
84705	GTPBP3	Autosomal recessive inheritance	HP:0000007
84705	GTPBP3	Intrauterine growth retardation	HP:0001511
84705	GTPBP3	Increased serum lactate	HP:0002151
84705	GTPBP3	Generalized hypotonia	HP:0001290
84705	GTPBP3	Global developmental delay	HP:0001263
84705	GTPBP3	Variable expressivity	HP:0003828
84705	GTPBP3	Lactic acidosis	HP:0003128
84705	GTPBP3	Visual impairment	HP:0000505
84705	GTPBP3	Arrhythmia	HP:0011675
2784	GNB3	Abnormality of macular pigmentation	HP:0008002
2784	GNB3	Photophobia	HP:0000613
2784	GNB3	Mild myopia	HP:0025573
2784	GNB3	Nyctalopia	HP:0000662
2784	GNB3	Optic disc hypoplasia	HP:0007766
2784	GNB3	Strabismus	HP:0000486
2784	GNB3	Autosomal recessive inheritance	HP:0000007
2784	GNB3	High myopia	HP:0011003
2784	GNB3	Hypermetropia	HP:0000540
2784	GNB3	Nystagmus	HP:0000639
2784	GNB3	Reduced visual acuity	HP:0007663
10978	CLP1	Absent speech	HP:0001344
10978	CLP1	Hyperreflexia	HP:0001347
10978	CLP1	Autosomal recessive inheritance	HP:0000007
10978	CLP1	Ventriculomegaly	HP:0002119
10978	CLP1	Proptosis	HP:0000520
10978	CLP1	Cerebral cortical atrophy	HP:0002120
10978	CLP1	Optic atrophy	HP:0000648
10978	CLP1	Generalized hypotonia	HP:0001290
10978	CLP1	Long eyelashes	HP:0000527
10978	CLP1	Encephalopathy	HP:0001298
10978	CLP1	Delayed gross motor development	HP:0002194
10978	CLP1	Simplified gyral pattern	HP:0009879
10978	CLP1	High palate	HP:0000218
10978	CLP1	Thin upper lip vermilion	HP:0000219
10978	CLP1	Cryptorchidism	HP:0000028
10978	CLP1	Hypoplasia of the corpus callosum	HP:0002079
10978	CLP1	Delayed myelination	HP:0012448
10978	CLP1	Intellectual disability	HP:0001249
10978	CLP1	Irritability	HP:0000737
10978	CLP1	Seizures	HP:0001250
10978	CLP1	Sensorimotor neuropathy	HP:0007141
10978	CLP1	Growth delay	HP:0001510
10978	CLP1	Strabismus	HP:0000486
10978	CLP1	Spasticity	HP:0001257
10978	CLP1	Underdeveloped nasal alae	HP:0000430
10978	CLP1	Delayed speech and language development	HP:0000750
10978	CLP1	Delayed fine motor development	HP:0010862
10978	CLP1	Global developmental delay	HP:0001263
10978	CLP1	Wide nasal bridge	HP:0000431
10978	CLP1	Poor eye contact	HP:0000817
10978	CLP1	Esotropia	HP:0000565
10978	CLP1	Poor head control	HP:0002421
10978	CLP1	Congenital onset	HP:0003577
10978	CLP1	Highly arched eyebrow	HP:0002553
10978	CLP1	Visual impairment	HP:0000505
10978	CLP1	Abnormality of brainstem morphology	HP:0002363
10978	CLP1	Short nose	HP:0003196
10978	CLP1	Long palpebral fissure	HP:0000637
10978	CLP1	Progressive microcephaly	HP:0000253
10978	CLP1	Visual fixation instability	HP:0025405
10978	CLP1	Nystagmus	HP:0000639
84706	GPT2	Absent speech	HP:0001344
84706	GPT2	Drooling	HP:0002307
84706	GPT2	Hyperreflexia	HP:0001347
84706	GPT2	Febrile seizures	HP:0002373
84706	GPT2	Autosomal recessive inheritance	HP:0000007
84706	GPT2	Abnormal CNS myelination	HP:0011400
84706	GPT2	Generalized hypotonia	HP:0001290
84706	GPT2	Nasogastric tube feeding in infancy	HP:0011470
84706	GPT2	Encephalopathy	HP:0001298
84706	GPT2	Narrow forehead	HP:0000341
84706	GPT2	Generalized tonic-clonic seizures	HP:0002069
84706	GPT2	Broad-based gait	HP:0002136
84706	GPT2	Hypotelorism	HP:0000601
84706	GPT2	Progressive	HP:0003676
84706	GPT2	Hypoplasia of the corpus callosum	HP:0002079
84706	GPT2	Babinski sign	HP:0003487
84706	GPT2	Intellectual disability	HP:0001249
84706	GPT2	Failure to thrive	HP:0001508
84706	GPT2	Spasticity	HP:0001257
84706	GPT2	Spastic paraplegia	HP:0001258
84706	GPT2	Dysarthria	HP:0001260
84706	GPT2	Postnatal microcephaly	HP:0005484
84706	GPT2	Severe muscular hypotonia	HP:0006829
84706	GPT2	Delayed speech and language development	HP:0000750
84706	GPT2	Global developmental delay	HP:0001263
84706	GPT2	Low-set ears	HP:0000369
84706	GPT2	Difficulty walking	HP:0002355
84706	GPT2	Tremor	HP:0001337
84706	GPT2	Microcephaly	HP:0000252
10982	MAPRE2	Umbilical hernia	HP:0001537
10982	MAPRE2	Autosomal dominant inheritance	HP:0000006
10982	MAPRE2	Generalized hypotonia	HP:0001290
10982	MAPRE2	Inguinal hernia	HP:0000023
10982	MAPRE2	Cryptorchidism	HP:0000028
10982	MAPRE2	Epicanthus	HP:0000286
10982	MAPRE2	Carious teeth	HP:0000670
10982	MAPRE2	Tapered finger	HP:0001182
10982	MAPRE2	Hypoplasia of the corpus callosum	HP:0002079
10982	MAPRE2	Narrow mouth	HP:0000160
10982	MAPRE2	Scrotal hypoplasia	HP:0000046
10982	MAPRE2	Hypospadias	HP:0000047
10982	MAPRE2	Cleft palate	HP:0000175
10982	MAPRE2	Thickened skin	HP:0001072
10982	MAPRE2	Microdontia	HP:0000691
10982	MAPRE2	Generalized hirsutism	HP:0002230
10982	MAPRE2	Short palm	HP:0004279
10982	MAPRE2	Microphthalmia	HP:0000568
10982	MAPRE2	Hypertelorism	HP:0000316
10982	MAPRE2	Abnormality of the musculature	HP:0003011
10982	MAPRE2	Blepharophimosis	HP:0000581
10982	MAPRE2	Upslanted palpebral fissure	HP:0000582
10982	MAPRE2	Edema	HP:0000969
10982	MAPRE2	Short palpebral fissure	HP:0012745
10982	MAPRE2	Lower limb asymmetry	HP:0100559
10982	MAPRE2	Flat face	HP:0012368
10982	MAPRE2	Upper limb asymmetry	HP:0100560
10982	MAPRE2	Wide intermamillary distance	HP:0006610
10982	MAPRE2	Short neck	HP:0000470
10982	MAPRE2	Long philtrum	HP:0000343
10982	MAPRE2	Micrognathia	HP:0000347
10982	MAPRE2	Broad neck	HP:0000475
10982	MAPRE2	Intellectual disability	HP:0001249
10982	MAPRE2	Microcornea	HP:0000482
10982	MAPRE2	Increased number of skin folds	HP:0007522
10982	MAPRE2	Short stature	HP:0004322
10982	MAPRE2	Seizures	HP:0001250
10982	MAPRE2	Congestive heart failure	HP:0001635
10982	MAPRE2	Pes planus	HP:0001763
10982	MAPRE2	Posteriorly rotated ears	HP:0000358
10982	MAPRE2	Microtia	HP:0008551
10982	MAPRE2	Retinopathy	HP:0000488
10982	MAPRE2	Irregular hyperpigmentation	HP:0007400
10982	MAPRE2	Downslanted palpebral fissures	HP:0000494
10982	MAPRE2	Delayed speech and language development	HP:0000750
10982	MAPRE2	Global developmental delay	HP:0001263
10982	MAPRE2	Low-set, posteriorly rotated ears	HP:0000368
10982	MAPRE2	Localized neuroblastoma	HP:0006768
10982	MAPRE2	Low-set ears	HP:0000369
10982	MAPRE2	Motor delay	HP:0001270
10982	MAPRE2	Microcephaly	HP:0000252
10982	MAPRE2	External ear malformation	HP:0008572
10982	MAPRE2	Pectus excavatum	HP:0000767
10984	KCNQ1OT1	Hepatomegaly	HP:0002240
10984	KCNQ1OT1	Omphalocele	HP:0001539
10984	KCNQ1OT1	Diastasis recti	HP:0001540
10984	KCNQ1OT1	Hepatoblastoma	HP:0002884
10984	KCNQ1OT1	Facial asymmetry	HP:0000324
10984	KCNQ1OT1	Pancreatic hyperplasia	HP:0006277
10984	KCNQ1OT1	Autosomal dominant inheritance	HP:0000006
10984	KCNQ1OT1	Proptosis	HP:0000520
10984	KCNQ1OT1	Posterior helix pit	HP:0008523
10984	KCNQ1OT1	Overgrowth	HP:0001548
10984	KCNQ1OT1	Vesicoureteral reflux	HP:0000076
10984	KCNQ1OT1	Prominent occiput	HP:0000269
10984	KCNQ1OT1	Neonatal hypoglycemia	HP:0001998
10984	KCNQ1OT1	Nephrolithiasis	HP:0000787
10984	KCNQ1OT1	Asymmetry of the thorax	HP:0001555
10984	KCNQ1OT1	Gonadoblastoma	HP:0000150
10984	KCNQ1OT1	Inguinal hernia	HP:0000023
10984	KCNQ1OT1	Adrenocortical carcinoma	HP:0006744
10984	KCNQ1OT1	Coarse facial features	HP:0000280
10984	KCNQ1OT1	Midface retrusion	HP:0011800
10984	KCNQ1OT1	Abnormality of cardiovascular system morphology	HP:0030680
10984	KCNQ1OT1	Dandy-Walker malformation	HP:0001305
10984	KCNQ1OT1	Scoliosis	HP:0002650
10984	KCNQ1OT1	Nevus flammeus	HP:0001052
10984	KCNQ1OT1	Cryptorchidism	HP:0000028
10984	KCNQ1OT1	Macroglossia	HP:0000158
10984	KCNQ1OT1	Impaired pain sensation	HP:0007328
10984	KCNQ1OT1	Renal cortical cysts	HP:0000803
10984	KCNQ1OT1	Abnormality of the dentition	HP:0000164
10984	KCNQ1OT1	Cardiomyopathy	HP:0001638
10984	KCNQ1OT1	Cardiomegaly	HP:0001640
10984	KCNQ1OT1	Intellectual disability, mild	HP:0001256
10984	KCNQ1OT1	Enlarged kidney	HP:0000105
10984	KCNQ1OT1	Nephroblastoma	HP:0002667
10984	KCNQ1OT1	Myelomeningocele	HP:0002475
10984	KCNQ1OT1	Overgrowth of external genitalia	HP:0003247
10984	KCNQ1OT1	Large fontanelles	HP:0000239
10984	KCNQ1OT1	Prominent metopic ridge	HP:0005487
10984	KCNQ1OT1	Accelerated skeletal maturation	HP:0005616
10984	KCNQ1OT1	Hemihypertrophy	HP:0001528
10984	KCNQ1OT1	Nephrocalcinosis	HP:0000121
10984	KCNQ1OT1	Adrenocortical cytomegaly	HP:0008186
2796	GNRH1	Abnormality of body height	HP:0000002
2796	GNRH1	Gynecomastia	HP:0000771
2796	GNRH1	Increased female libido	HP:0030019
2796	GNRH1	Absence of pubertal development	HP:0008197
2796	GNRH1	Autosomal dominant inheritance	HP:0000006
2796	GNRH1	Female hypogonadism	HP:0000134
2796	GNRH1	Eunuchoid habitus	HP:0003782
2796	GNRH1	Autosomal recessive inheritance	HP:0000007
2796	GNRH1	Abnormality of the voice	HP:0001608
2796	GNRH1	Generalized joint laxity	HP:0002761
2796	GNRH1	Depressivity	HP:0000716
2796	GNRH1	Hypoplasia of the uterus	HP:0000013
2796	GNRH1	Congenital sensorineural hearing impairment	HP:0008527
2796	GNRH1	Primary amenorrhea	HP:0000786
2796	GNRH1	Wide intermamillary distance	HP:0006610
2796	GNRH1	Hypoplasia of the ovary	HP:0008724
2796	GNRH1	Infertility	HP:0000789
2796	GNRH1	Male hypogonadism	HP:0000026
2796	GNRH1	Cryptorchidism	HP:0000028
2796	GNRH1	Decreased testicular size	HP:0008734
2796	GNRH1	Depressed nasal bridge	HP:0005280
2796	GNRH1	Camptodactyly	HP:0012385
2796	GNRH1	Impotence	HP:0000802
2796	GNRH1	Anxiety	HP:0000739
2796	GNRH1	Abnormality of the dentition	HP:0000164
2796	GNRH1	Secondary amenorrhea	HP:0000869
2796	GNRH1	Sparse axillary hair	HP:0002215
2796	GNRH1	Osteopenia	HP:0000938
2796	GNRH1	Osteoporosis	HP:0000939
2796	GNRH1	Decreased serum testosterone level	HP:0040171
2796	GNRH1	Hypogonadotrophic hypogonadism	HP:0000044
2796	GNRH1	Cleft palate	HP:0000175
2796	GNRH1	Sparse pubic hair	HP:0002225
2796	GNRH1	Breast hypoplasia	HP:0003187
2796	GNRH1	Micropenis	HP:0000054
2796	GNRH1	Sparse body hair	HP:0002231
2796	GNRH1	Delayed puberty	HP:0000823
2796	GNRH1	Non-obstructive azoospermia	HP:0011961
2796	GNRH1	Absence of secondary sex characteristics	HP:0008187
2796	GNRH1	Hypertelorism	HP:0000316
2796	GNRH1	Delayed skeletal maturation	HP:0002750
2798	GNRHR	Abnormality of body height	HP:0000002
2798	GNRHR	Gynecomastia	HP:0000771
2798	GNRHR	Increased female libido	HP:0030019
2798	GNRHR	Absence of pubertal development	HP:0008197
2798	GNRHR	Autosomal dominant inheritance	HP:0000006
2798	GNRHR	Female hypogonadism	HP:0000134
2798	GNRHR	Eunuchoid habitus	HP:0003782
2798	GNRHR	Autosomal recessive inheritance	HP:0000007
2798	GNRHR	Abnormality of the voice	HP:0001608
2798	GNRHR	Generalized joint laxity	HP:0002761
2798	GNRHR	Depressivity	HP:0000716
2798	GNRHR	Hypoplasia of the uterus	HP:0000013
2798	GNRHR	Congenital sensorineural hearing impairment	HP:0008527
2798	GNRHR	Primary amenorrhea	HP:0000786
2798	GNRHR	Wide intermamillary distance	HP:0006610
2798	GNRHR	Hypoplasia of the ovary	HP:0008724
2798	GNRHR	Infertility	HP:0000789
2798	GNRHR	Male hypogonadism	HP:0000026
2798	GNRHR	Cryptorchidism	HP:0000028
2798	GNRHR	Decreased testicular size	HP:0008734
2798	GNRHR	Depressed nasal bridge	HP:0005280
2798	GNRHR	Camptodactyly	HP:0012385
2798	GNRHR	Impotence	HP:0000802
2798	GNRHR	Anxiety	HP:0000739
2798	GNRHR	Abnormality of the dentition	HP:0000164
2798	GNRHR	Secondary amenorrhea	HP:0000869
2798	GNRHR	Sparse axillary hair	HP:0002215
2798	GNRHR	Osteopenia	HP:0000938
2798	GNRHR	Osteoporosis	HP:0000939
2798	GNRHR	Decreased serum testosterone level	HP:0040171
2798	GNRHR	Hypogonadotrophic hypogonadism	HP:0000044
2798	GNRHR	Cleft palate	HP:0000175
2798	GNRHR	Sparse pubic hair	HP:0002225
2798	GNRHR	Breast hypoplasia	HP:0003187
2798	GNRHR	Micropenis	HP:0000054
2798	GNRHR	Sparse body hair	HP:0002231
2798	GNRHR	Delayed puberty	HP:0000823
2798	GNRHR	Non-obstructive azoospermia	HP:0011961
2798	GNRHR	Absence of secondary sex characteristics	HP:0008187
2798	GNRHR	Hypertelorism	HP:0000316
2798	GNRHR	Delayed skeletal maturation	HP:0002750
2799	GNS	Hepatomegaly	HP:0002240
2799	GNS	Absent speech	HP:0001344
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	Depressed nasal bridge	HP:0005280
2799	GNS	Coarse hair	HP:0002208
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	Ovoid thoracolumbar vertebrae	HP:0003309
2799	GNS	Hearing impairment	HP:0000365
2799	GNS	Dysostosis multiplex	HP:0000943
2799	GNS	Hirsutism	HP:0001007
2799	GNS	Heparan sulfate excretion in urine	HP:0002159
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
84720	PIGO	Upslanted palpebral fissure	HP:0000582
84720	PIGO	Ventriculomegaly	HP:0002119
84720	PIGO	Autosomal recessive inheritance	HP:0000007
84720	PIGO	Broad nasal tip	HP:0000455
84720	PIGO	Broad hallux	HP:0010055
84720	PIGO	Generalized hypotonia	HP:0001290
84720	PIGO	Aganglionic megacolon	HP:0002251
84720	PIGO	Vesicoureteral reflux	HP:0000076
84720	PIGO	Elevated alkaline phosphatase	HP:0003155
84720	PIGO	Atrial septal defect	HP:0001631
84720	PIGO	Intellectual disability	HP:0001249
84720	PIGO	Seizures	HP:0001250
84720	PIGO	Growth delay	HP:0001510
84720	PIGO	Shortening of all distal phalanges of the fingers	HP:0006118
84720	PIGO	Anal atresia	HP:0002023
84720	PIGO	Anal stenosis	HP:0002025
84720	PIGO	Delayed speech and language development	HP:0000750
84720	PIGO	Wide nasal bridge	HP:0000431
84720	PIGO	Cleft palate	HP:0000175
84720	PIGO	Tented upper lip vermilion	HP:0010804
84720	PIGO	Congenital onset	HP:0003577
84720	PIGO	Hypertelorism	HP:0000316
84720	PIGO	Microcephaly	HP:0000252
84720	PIGO	Short nose	HP:0003196
84720	PIGO	Long palpebral fissure	HP:0000637
84720	PIGO	Anterior plagiocephaly	HP:0011326
10999	SLC27A4	Ichthyosis	HP:0008064
10999	SLC27A4	Neonatal respiratory distress	HP:0002643
10999	SLC27A4	Premature birth	HP:0001622
10999	SLC27A4	Eosinophilia	HP:0001880
10999	SLC27A4	Desquamation of skin soon after birth	HP:0007549
2811	GP1BA	Prolonged bleeding time	HP:0003010
2811	GP1BA	Menorrhagia	HP:0000132
2811	GP1BA	Ecchymosis	HP:0031364
2811	GP1BA	Autosomal dominant inheritance	HP:0000006
2811	GP1BA	Autosomal recessive inheritance	HP:0000007
2811	GP1BA	Petechiae	HP:0000967
2811	GP1BA	Hematemesis	HP:0002248
2811	GP1BA	Splenomegaly	HP:0001744
2811	GP1BA	Thrombocytopenia	HP:0001873
2811	GP1BA	Bruising susceptibility	HP:0000978
2811	GP1BA	Purpura	HP:0000979
2811	GP1BA	Hemolytic anemia	HP:0001878
2811	GP1BA	Prolonged bleeding after dental extraction	HP:0006298
2811	GP1BA	Migraine	HP:0002076
2811	GP1BA	Stomatocytosis	HP:0004446
2811	GP1BA	Impaired ristocetin-induced platelet aggregation	HP:0011871
2811	GP1BA	Gingival bleeding	HP:0000225
2811	GP1BA	Seizures	HP:0001250
2811	GP1BA	Partially duplicated kidney	HP:0008738
2811	GP1BA	Epistaxis	HP:0000421
2811	GP1BA	Increased mean platelet volume	HP:0011877
2811	GP1BA	Decreased platelet glycoprotein Ib-IX-V	HP:0011879
2811	GP1BA	Macroscopic hematuria	HP:0012587
2811	GP1BA	Giant platelets	HP:0001902
2811	GP1BA	Prolonged bleeding after surgery	HP:0004846
2811	GP1BA	Abnormal megakaryocyte morphology	HP:0012143
2811	GP1BA	Asthma	HP:0002099
2811	GP1BA	Intermittent thrombocytopenia	HP:0004854
2811	GP1BA	Spontaneous, recurrent epistaxis	HP:0004406
2811	GP1BA	Macrothrombocytopenia	HP:0040185
2811	GP1BA	Spontaneous hematomas	HP:0007420
2811	GP1BA	Gastrointestinal hemorrhage	HP:0002239
84733	CBX2	Polycystic ovaries	HP:0000147
84733	CBX2	Male pseudohermaphroditism	HP:0000037
84733	CBX2	Sex reversal	HP:0012245
84733	CBX2	Autosomal dominant inheritance	HP:0000006
84733	CBX2	Autosomal recessive inheritance	HP:0000007
84733	CBX2	Elevated circulating follicle stimulating hormone level	HP:0008232
84733	CBX2	Testicular dysgenesis	HP:0008715
84733	CBX2	Hypogonadotrophic hypogonadism	HP:0000044
2812	GP1BB	Umbilical hernia	HP:0001537
2812	GP1BB	Tetany	HP:0001281
2812	GP1BB	Intestinal malrotation	HP:0002566
2812	GP1BB	Turricephaly	HP:0000262
2812	GP1BB	Cataract	HP:0000518
2812	GP1BB	Autosomal recessive inheritance	HP:0000007
2812	GP1BB	Hypoplasia of the thymus	HP:0000778
2812	GP1BB	Abnormal aortic arch morphology	HP:0012303
2812	GP1BB	Malar flattening	HP:0000272
2812	GP1BB	Long face	HP:0000276
2812	GP1BB	Inguinal hernia	HP:0000023
2812	GP1BB	Polyhydramnios	HP:0001561
2812	GP1BB	Seborrheic dermatitis	HP:0001051
2812	GP1BB	Migraine	HP:0002076
2812	GP1BB	Cryptorchidism	HP:0000028
2812	GP1BB	Hypopigmented skin patches	HP:0001053
2812	GP1BB	Epicanthus	HP:0000286
2812	GP1BB	Partially duplicated kidney	HP:0008738
2812	GP1BB	Acne	HP:0001061
2812	GP1BB	Foot polydactyly	HP:0001829
2812	GP1BB	Macroscopic hematuria	HP:0012587
2812	GP1BB	Hypospadias	HP:0000047
2812	GP1BB	Bowel incontinence	HP:0002607
2812	GP1BB	Specific learning disability	HP:0001328
2812	GP1BB	Asthma	HP:0002099
2812	GP1BB	Dysphasia	HP:0002357
2812	GP1BB	Hypothyroidism	HP:0000821
2812	GP1BB	Abnormal lung lobation	HP:0002101
2812	GP1BB	Spontaneous, recurrent epistaxis	HP:0004406
2812	GP1BB	Microphthalmia	HP:0000568
2812	GP1BB	Cholelithiasis	HP:0001081
2812	GP1BB	Varicose veins	HP:0002619
2812	GP1BB	Impaired T cell function	HP:0005435
2812	GP1BB	Multiple suture craniosynostosis	HP:0011324
2812	GP1BB	Joint hyperflexibility	HP:0005692
2812	GP1BB	Hypertelorism	HP:0000316
2812	GP1BB	Hypoparathyroidism	HP:0000829
2812	GP1BB	Laryngomalacia	HP:0001601
2812	GP1BB	Short philtrum	HP:0000322
2812	GP1BB	Hyperthyroidism	HP:0000836
2812	GP1BB	Upslanted palpebral fissure	HP:0000582
2812	GP1BB	Nasal speech	HP:0001611
2812	GP1BB	Vesicoureteral reflux	HP:0000076
2812	GP1BB	Thrombocytopenia	HP:0001873
2812	GP1BB	Hypocalcemia	HP:0002901
2812	GP1BB	Long philtrum	HP:0000343
2812	GP1BB	Abnormality of the pharynx	HP:0000600
2812	GP1BB	Renal hypoplasia	HP:0000089
2812	GP1BB	Arthritis	HP:0001369
2812	GP1BB	Scoliosis	HP:0002650
2812	GP1BB	Micrognathia	HP:0000347
2812	GP1BB	Arrhinencephaly	HP:0002139
2812	GP1BB	Ventricular septal defect	HP:0001629
2812	GP1BB	Impaired ristocetin-induced platelet aggregation	HP:0011871
2812	GP1BB	Atrial septal defect	HP:0001631
2812	GP1BB	Tetralogy of Fallot	HP:0001636
2812	GP1BB	Decreased platelet glycoprotein Ib-IX-V	HP:0011879
2812	GP1BB	Occipital myelomeningocele	HP:0007271
2812	GP1BB	Abnormal pulmonary valve morphology	HP:0001641
2812	GP1BB	Attention deficit hyperactivity disorder	HP:0007018
2812	GP1BB	Patent ductus arteriosus	HP:0001643
2812	GP1BB	Giant platelets	HP:0001902
2812	GP1BB	Chronic obstructive pulmonary disease	HP:0006510
2812	GP1BB	Abnormal aortic valve morphology	HP:0001646
2812	GP1BB	Abnormal megakaryocyte morphology	HP:0012143
2812	GP1BB	Retinal arteriolar tortuosity	HP:0001136
2812	GP1BB	Polycystic kidney dysplasia	HP:0000113
2812	GP1BB	Low-set ears	HP:0000369
2812	GP1BB	Posterior embryotoxon	HP:0000627
2812	GP1BB	Truncus arteriosus	HP:0001660
2812	GP1BB	Hypertensive crisis	HP:0100735
2812	GP1BB	Small earlobe	HP:0000385
2812	GP1BB	Abnormality of the uterus	HP:0000130
2812	GP1BB	Platybasia	HP:0002691
2812	GP1BB	Menorrhagia	HP:0000132
2812	GP1BB	Chronic otitis media	HP:0000389
2812	GP1BB	Bipolar affective disorder	HP:0007302
2812	GP1BB	Optic atrophy	HP:0000648
2812	GP1BB	Hand polydactyly	HP:0001161
2812	GP1BB	Overfolded helix	HP:0000396
2812	GP1BB	Arachnodactyly	HP:0001166
2812	GP1BB	Tricuspid atresia	HP:0011662
2812	GP1BB	Atelectasis	HP:0100750
2812	GP1BB	Schizophrenia	HP:0100753
2812	GP1BB	Autoimmunity	HP:0002960
2812	GP1BB	Conductive hearing impairment	HP:0000405
2812	GP1BB	Prolonged bleeding after dental extraction	HP:0006298
2812	GP1BB	Abnormality of the tonsils	HP:0100765
2812	GP1BB	Carious teeth	HP:0000670
2812	GP1BB	Bulbous nose	HP:0000414
2812	GP1BB	Narrow mouth	HP:0000160
2812	GP1BB	Immunodeficiency	HP:0002721
2812	GP1BB	Epistaxis	HP:0000421
2812	GP1BB	Feeding difficulties in infancy	HP:0008872
2812	GP1BB	Prominent nasal bridge	HP:0000426
2812	GP1BB	Abnormality of dental enamel	HP:0000682
2812	GP1BB	Wide nasal bridge	HP:0000431
2812	GP1BB	Cleft palate	HP:0000175
2812	GP1BB	Patellar dislocation	HP:0002999
2812	GP1BB	Multiple renal cysts	HP:0005562
2812	GP1BB	Gastrointestinal hemorrhage	HP:0002239
2812	GP1BB	Prolonged bleeding time	HP:0003010
2812	GP1BB	Choanal atresia	HP:0000453
2812	GP1BB	Petechiae	HP:0000967
2812	GP1BB	Hematemesis	HP:0002248
2812	GP1BB	Aganglionic megacolon	HP:0002251
2812	GP1BB	Depressivity	HP:0000716
2812	GP1BB	Autism	HP:0000717
2812	GP1BB	Splenomegaly	HP:0001744
2812	GP1BB	Bruising susceptibility	HP:0000978
2812	GP1BB	Purpura	HP:0000979
2812	GP1BB	Short neck	HP:0000470
2812	GP1BB	Gingival bleeding	HP:0000225
2812	GP1BB	Seizures	HP:0001250
2812	GP1BB	Short stature	HP:0004322
2812	GP1BB	Talipes equinovarus	HP:0001762
2812	GP1BB	Constipation	HP:0002019
2812	GP1BB	Anxiety	HP:0000739
2812	GP1BB	Failure to thrive	HP:0001508
2812	GP1BB	Gastroesophageal reflux	HP:0002020
2812	GP1BB	Muscular hypotonia	HP:0001252
2812	GP1BB	Strabismus	HP:0000486
2812	GP1BB	Anal atresia	HP:0002023
2812	GP1BB	Intrauterine growth retardation	HP:0001511
2812	GP1BB	Corneal neovascularization	HP:0011496
2812	GP1BB	Intellectual disability, mild	HP:0001256
2812	GP1BB	Obesity	HP:0001513
2812	GP1BB	Prolonged bleeding after surgery	HP:0004846
2812	GP1BB	Hydrocephalus	HP:0000238
2812	GP1BB	Downslanted palpebral fissures	HP:0000494
2812	GP1BB	Global developmental delay	HP:0001263
2812	GP1BB	Glaucoma	HP:0000501
2812	GP1BB	Macrothrombocytopenia	HP:0040185
2812	GP1BB	Telecanthus	HP:0000506
2812	GP1BB	Spontaneous hematomas	HP:0007420
2812	GP1BB	Ptosis	HP:0000508
2812	GP1BB	Microcephaly	HP:0000252
2812	GP1BB	Abnormality of the thorax	HP:0000765
2812	GP1BB	Myalgia	HP:0003326
11005	SPINK5	Urticaria	HP:0001025
11005	SPINK5	Abnormality of the musculature	HP:0003011
11005	SPINK5	Eczema	HP:0000964
11005	SPINK5	Autosomal recessive inheritance	HP:0000007
11005	SPINK5	Increased circulating total IgE level	HP:0003212
11005	SPINK5	Sparse eyelashes	HP:0000653
11005	SPINK5	Villous atrophy	HP:0011473
11005	SPINK5	Ectopic kidney	HP:0000086
11005	SPINK5	Sparse and thin eyebrow	HP:0000535
11005	SPINK5	Dehydration	HP:0001944
11005	SPINK5	Decreased antibody level in blood	HP:0004313
11005	SPINK5	Aminoaciduria	HP:0003355
11005	SPINK5	Skin rash	HP:0000988
11005	SPINK5	Recurrent respiratory infections	HP:0002205
11005	SPINK5	Trichorrhexis nodosa	HP:0009886
11005	SPINK5	Recurrent infections	HP:0002719
11005	SPINK5	Sparse scalp hair	HP:0002209
11005	SPINK5	Intellectual disability	HP:0001249
11005	SPINK5	Seizures	HP:0001250
11005	SPINK5	Short stature	HP:0004322
11005	SPINK5	Failure to thrive	HP:0001508
11005	SPINK5	Fine hair	HP:0002213
11005	SPINK5	Malabsorption	HP:0002024
11005	SPINK5	Irregular hyperpigmentation	HP:0007400
11005	SPINK5	Hypernatremic dehydration	HP:0004906
11005	SPINK5	Brittle scalp hair	HP:0004779
11005	SPINK5	Global developmental delay	HP:0001263
11005	SPINK5	Emphysema	HP:0002097
11005	SPINK5	Asthma	HP:0002099
11005	SPINK5	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
11005	SPINK5	Angioedema	HP:0100665
11005	SPINK5	Allergic rhinitis	HP:0003193
11005	SPINK5	Food allergy	HP:0500093
11005	SPINK5	Erythroderma	HP:0001019
11005	SPINK5	Brittle hair	HP:0002299
11005	SPINK5	Acanthosis nigricans	HP:0000956
11005	SPINK5	Dry skin	HP:0000958
11005	SPINK5	Hydronephrosis	HP:0000126
2815	GP9	Prolonged bleeding time	HP:0003010
2815	GP9	Menorrhagia	HP:0000132
2815	GP9	Autosomal recessive inheritance	HP:0000007
2815	GP9	Petechiae	HP:0000967
2815	GP9	Hematemesis	HP:0002248
2815	GP9	Thrombocytopenia	HP:0001873
2815	GP9	Bruising susceptibility	HP:0000978
2815	GP9	Purpura	HP:0000979
2815	GP9	Prolonged bleeding after dental extraction	HP:0006298
2815	GP9	Migraine	HP:0002076
2815	GP9	Impaired ristocetin-induced platelet aggregation	HP:0011871
2815	GP9	Gingival bleeding	HP:0000225
2815	GP9	Seizures	HP:0001250
2815	GP9	Partially duplicated kidney	HP:0008738
2815	GP9	Epistaxis	HP:0000421
2815	GP9	Decreased platelet glycoprotein Ib-IX-V	HP:0011879
2815	GP9	Macroscopic hematuria	HP:0012587
2815	GP9	Giant platelets	HP:0001902
2815	GP9	Prolonged bleeding after surgery	HP:0004846
2815	GP9	Abnormal megakaryocyte morphology	HP:0012143
2815	GP9	Asthma	HP:0002099
2815	GP9	Spontaneous, recurrent epistaxis	HP:0004406
2815	GP9	Macrothrombocytopenia	HP:0040185
2815	GP9	Spontaneous hematomas	HP:0007420
2815	GP9	Gastrointestinal hemorrhage	HP:0002239
256764	WDR72	Amelogenesis imperfecta	HP:0000705
256764	WDR72	Autosomal recessive inheritance	HP:0000007
256764	WDR72	Hypomature dental enamel	HP:0011085
2819	GPD1	Hepatomegaly	HP:0002240
2819	GPD1	Splenomegaly	HP:0001744
2819	GPD1	Short stature	HP:0004322
2819	GPD1	Hepatic fibrosis	HP:0001395
2819	GPD1	Hepatic steatosis	HP:0001397
2819	GPD1	Autosomal recessive inheritance	HP:0000007
2819	GPD1	Infantile onset	HP:0003593
2819	GPD1	Hypertriglyceridemia	HP:0002155
2819	GPD1	Elevated hepatic transaminase	HP:0002910
11011	TLK2	Feeding difficulties	HP:0011968
11011	TLK2	Otitis media	HP:0000388
11011	TLK2	Blepharophimosis	HP:0000581
11011	TLK2	Upslanted palpebral fissure	HP:0000582
11011	TLK2	Broad nasal tip	HP:0000455
11011	TLK2	Infantile onset	HP:0003593
11011	TLK2	Obsessive-compulsive behavior	HP:0000722
11011	TLK2	Toe walking	HP:0040083
11011	TLK2	Long face	HP:0000276
11011	TLK2	Autistic behavior	HP:0000729
11011	TLK2	Scoliosis	HP:0002650
11011	TLK2	High palate	HP:0000218
11011	TLK2	Diarrhea	HP:0002014
11011	TLK2	Epicanthus	HP:0000286
11011	TLK2	Narrow mouth	HP:0000160
11011	TLK2	Intellectual disability	HP:0001249
11011	TLK2	Seizures	HP:0001250
11011	TLK2	Constipation	HP:0002019
11011	TLK2	Anxiety	HP:0000739
11011	TLK2	Posteriorly rotated ears	HP:0000358
11011	TLK2	Strabismus	HP:0000486
11011	TLK2	Attention deficit hyperactivity disorder	HP:0007018
11011	TLK2	Prominent nasal bridge	HP:0000426
11011	TLK2	Delayed speech and language development	HP:0000750
11011	TLK2	Global developmental delay	HP:0001263
11011	TLK2	Motor delay	HP:0001270
11011	TLK2	Kyphosis	HP:0002808
11011	TLK2	Telecanthus	HP:0000506
11011	TLK2	Ptosis	HP:0000508
2821	GPI	Intellectual disability	HP:0001249
2821	GPI	Ataxia	HP:0001251
2821	GPI	Autosomal recessive inheritance	HP:0000007
2821	GPI	Nonspherocytic hemolytic anemia	HP:0001930
2821	GPI	Muscle weakness	HP:0001324
2821	GPI	Pigment gallstones	HP:0011981
2821	GPI	Decreased glucosephosphate isomerase activity	HP:0003568
2821	GPI	Splenomegaly	HP:0001744
2821	GPI	Spontaneous hemolytic crises	HP:0005525
2821	GPI	Sensory ataxia	HP:0010871
2821	GPI	Jaundice	HP:0000952
2821	GPI	Impaired neutrophil bactericidal activity	HP:0011993
2821	GPI	Cholecystitis	HP:0001082
92935	MARS2	Pectus carinatum	HP:0000768
92935	MARS2	Feeding difficulties	HP:0011968
92935	MARS2	Spastic ataxia	HP:0002497
92935	MARS2	Hyperreflexia	HP:0001347
92935	MARS2	Autosomal recessive inheritance	HP:0000007
92935	MARS2	Cerebral cortical atrophy	HP:0002120
92935	MARS2	Generalized hypotonia	HP:0001290
92935	MARS2	Cerebral atrophy	HP:0002059
92935	MARS2	Urinary urgency	HP:0000012
92935	MARS2	Anteverted nares	HP:0000463
92935	MARS2	Gait ataxia	HP:0002066
92935	MARS2	Long philtrum	HP:0000343
92935	MARS2	Progressive cerebellar ataxia	HP:0002073
92935	MARS2	Scoliosis	HP:0002650
92935	MARS2	Horizontal nystagmus	HP:0000666
92935	MARS2	Dysmetria	HP:0001310
92935	MARS2	Spastic dysarthria	HP:0002464
92935	MARS2	Depressed nasal bridge	HP:0005280
92935	MARS2	Short stature	HP:0004322
92935	MARS2	Intellectual disability, mild	HP:0001256
92935	MARS2	Mild hearing impairment	HP:0012712
92935	MARS2	Cerebellar hypoplasia	HP:0001321
92935	MARS2	Spasticity	HP:0001257
92935	MARS2	Bilateral sensorineural hearing impairment	HP:0008619
92935	MARS2	Dysarthria	HP:0001260
92935	MARS2	Wide nasal bridge	HP:0000431
92935	MARS2	Global developmental delay	HP:0001263
92935	MARS2	Leukoencephalopathy	HP:0002352
92935	MARS2	Low-set ears	HP:0000369
92935	MARS2	Dystonia	HP:0001332
92935	MARS2	Cerebellar atrophy	HP:0001272
92935	MARS2	Growth hormone deficiency	HP:0000824
92935	MARS2	Dilatation	HP:0002617
92935	MARS2	Congenital onset	HP:0003577
92935	MARS2	Short nose	HP:0003196
92935	MARS2	Hypertelorism	HP:0000316
92935	MARS2	Cognitive impairment	HP:0100543
11019	LIAS	Feeding difficulties	HP:0011968
11019	LIAS	Profound global developmental delay	HP:0012736
11019	LIAS	Seizures	HP:0001250
11019	LIAS	Growth delay	HP:0001510
11019	LIAS	Hypertrophic cardiomyopathy	HP:0001639
11019	LIAS	Increased serum lactate	HP:0002151
11019	LIAS	Autosomal recessive inheritance	HP:0000007
11019	LIAS	Generalized hypotonia	HP:0001290
11019	LIAS	Cerebral atrophy	HP:0002059
11019	LIAS	Respiratory insufficiency	HP:0002093
11019	LIAS	Spastic tetraplegia	HP:0002510
11019	LIAS	Leukodystrophy	HP:0002415
11019	LIAS	Severe global developmental delay	HP:0011344
11019	LIAS	Encephalopathy	HP:0001298
11019	LIAS	Motor delay	HP:0001270
11019	LIAS	Lactic acidosis	HP:0003128
11019	LIAS	Apnea	HP:0002104
11019	LIAS	Myoclonus	HP:0001336
11019	LIAS	Sleep disturbance	HP:0002360
11019	LIAS	Flexion contracture	HP:0001371
11019	LIAS	Microcephaly	HP:0000252
11020	IFT27	Abnormal electroretinogram	HP:0000512
11020	IFT27	Skeletal muscle atrophy	HP:0003202
11020	IFT27	Multicystic kidney dysplasia	HP:0000003
11020	IFT27	Pigmentary retinopathy	HP:0000580
11020	IFT27	Autosomal recessive inheritance	HP:0000007
11020	IFT27	Hypogonadism	HP:0000135
11020	IFT27	Polydactyly	HP:0010442
11020	IFT27	Postaxial hand polydactyly	HP:0001162
11020	IFT27	Renal insufficiency	HP:0000083
11020	IFT27	Hypoplasia of the ovary	HP:0008724
11020	IFT27	Finger syndactyly	HP:0006101
11020	IFT27	Short neck	HP:0000470
11020	IFT27	Cryptorchidism	HP:0000028
11020	IFT27	Hypoplasia of penis	HP:0008736
11020	IFT27	Intellectual disability	HP:0001249
11020	IFT27	Short stature	HP:0004322
11020	IFT27	Nephrotic syndrome	HP:0000100
11020	IFT27	External genital hypoplasia	HP:0003241
11020	IFT27	Obesity	HP:0001513
11020	IFT27	Prominent nasal bridge	HP:0000426
11020	IFT27	Hearing impairment	HP:0000365
11020	IFT27	Downslanted palpebral fissures	HP:0000494
11020	IFT27	Low-set, posteriorly rotated ears	HP:0000368
11020	IFT27	Hepatic fibrosis	HP:0001395
11020	IFT27	Hypertension	HP:0000822
11020	IFT27	Generalized hirsutism	HP:0002230
11020	IFT27	Neurological speech impairment	HP:0002167
11020	IFT27	Hyposmia	HP:0004409
11020	IFT27	Medial flaring of the eyebrow	HP:0010747
11020	IFT27	Rod-cone dystrophy	HP:0000510
11020	IFT27	Nystagmus	HP:0000639
11023	VAX1	Autosomal recessive inheritance	HP:0000007
11023	VAX1	Microphthalmia	HP:0000568
11023	VAX1	Agenesis of corpus callosum	HP:0001274
11023	VAX1	Cleft upper lip	HP:0000204
11023	VAX1	Agenesis of pineal gland	HP:0012687
11023	VAX1	Cleft palate	HP:0000175
11023	VAX1	Global developmental delay	HP:0001263
92949	ADAMTSL1	Square face	HP:0000321
92949	ADAMTSL1	Short philtrum	HP:0000322
92949	ADAMTSL1	Vertebrobasilar dolichoectasia	HP:0020038
92949	ADAMTSL1	Primary congenital glaucoma	HP:0008007
92949	ADAMTSL1	Macrotia	HP:0000400
92949	ADAMTSL1	Congenital hypothyroidism	HP:0000851
92949	ADAMTSL1	Nephrolithiasis	HP:0000787
92949	ADAMTSL1	Migraine	HP:0002076
92949	ADAMTSL1	Retinal detachment	HP:0000541
92949	ADAMTSL1	Tapered finger	HP:0001182
92949	ADAMTSL1	Delayed myelination	HP:0012448
92949	ADAMTSL1	Myopia	HP:0000545
92949	ADAMTSL1	Thyroid hypoplasia	HP:0005990
92949	ADAMTSL1	Bilateral sensorineural hearing impairment	HP:0008619
92949	ADAMTSL1	Buphthalmos	HP:0000557
92949	ADAMTSL1	Rieger anomaly	HP:0000558
92949	ADAMTSL1	Mandibular prognathia	HP:0000303
92949	ADAMTSL1	Wide nasal bridge	HP:0000431
92949	ADAMTSL1	Prominent metopic ridge	HP:0005487
92949	ADAMTSL1	Tented upper lip vermilion	HP:0010804
92949	ADAMTSL1	Delayed eruption of permanent teeth	HP:0000696
92949	ADAMTSL1	Calcaneovalgus deformity	HP:0001848
92949	ADAMTSL1	Brachycephaly	HP:0000248
92949	ADAMTSL1	Abnormality of the palmar creases	HP:0010490
92949	ADAMTSL1	Microcephaly	HP:0000252
117531	TMC1	Autosomal dominant inheritance	HP:0000006
117531	TMC1	Sensorineural hearing impairment	HP:0000407
117531	TMC1	Autosomal recessive inheritance	HP:0000007
117531	TMC1	Tinnitus	HP:0000360
11041	B4GAT1	Macrocephaly	HP:0000256
11041	B4GAT1	Skeletal muscle atrophy	HP:0003202
11041	B4GAT1	Areflexia	HP:0001284
11041	B4GAT1	Cataract	HP:0000518
11041	B4GAT1	Autosomal recessive inheritance	HP:0000007
11041	B4GAT1	Optic atrophy	HP:0000648
11041	B4GAT1	Metatarsus valgus	HP:0010508
11041	B4GAT1	Anophthalmia	HP:0000528
11041	B4GAT1	Abnormal circulating creatine kinase concentration	HP:0040081
11041	B4GAT1	Anencephaly	HP:0002323
11041	B4GAT1	Corneal opacity	HP:0007957
11041	B4GAT1	Pachygyria	HP:0001302
11041	B4GAT1	Dandy-Walker malformation	HP:0001305
11041	B4GAT1	Protruding ear	HP:0000411
11041	B4GAT1	Cryptorchidism	HP:0000028
11041	B4GAT1	Retinal detachment	HP:0000541
11041	B4GAT1	Decreased testicular size	HP:0008734
11041	B4GAT1	Hypoplasia of penis	HP:0008736
11041	B4GAT1	Elevated serum creatine kinase	HP:0003236
11041	B4GAT1	Occipital encephalocele	HP:0002085
11041	B4GAT1	Retinal dysplasia	HP:0007973
11041	B4GAT1	Cerebellar hypoplasia	HP:0001321
11041	B4GAT1	Retinal dystrophy	HP:0000556
11041	B4GAT1	Muscle weakness	HP:0001324
11041	B4GAT1	Severe muscular hypotonia	HP:0006829
11041	B4GAT1	Specific learning disability	HP:0001328
11041	B4GAT1	Submucous cleft hard palate	HP:0000176
11041	B4GAT1	Absent septum pellucidum	HP:0001331
11041	B4GAT1	Chorioretinal dysplasia	HP:0007731
11041	B4GAT1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
11041	B4GAT1	Micropenis	HP:0000054
11041	B4GAT1	Microphthalmia	HP:0000568
11041	B4GAT1	Macrogyria	HP:0007227
11041	B4GAT1	Hypoplasia of the brainstem	HP:0002365
11041	B4GAT1	Bifid uvula	HP:0000193
11041	B4GAT1	Optic nerve dysplasia	HP:0001093
11041	B4GAT1	Polymicrogyria	HP:0002126
11041	B4GAT1	Opacification of the corneal stroma	HP:0007759
11041	B4GAT1	Type II lissencephaly	HP:0007260
11041	B4GAT1	Intellectual disability	HP:0001249
11041	B4GAT1	Seizures	HP:0001250
11041	B4GAT1	Microcornea	HP:0000482
11041	B4GAT1	Iris coloboma	HP:0000612
11041	B4GAT1	Muscular hypotonia	HP:0001252
11041	B4GAT1	Posteriorly rotated ears	HP:0000358
11041	B4GAT1	Muscular dystrophy	HP:0003560
11041	B4GAT1	Spasticity	HP:0001257
11041	B4GAT1	Blindness	HP:0000618
11041	B4GAT1	Gray matter heterotopia	HP:0002282
11041	B4GAT1	Renal cyst	HP:0000107
11041	B4GAT1	Cortical dysplasia	HP:0002539
11041	B4GAT1	Hydrocephalus	HP:0000238
11041	B4GAT1	Renal dysplasia	HP:0000110
11041	B4GAT1	Global developmental delay	HP:0001263
11041	B4GAT1	Abnormal aldolase level	HP:0012400
11041	B4GAT1	Abnormal lactate dehydrogenase activity	HP:0045040
11041	B4GAT1	Low-set ears	HP:0000369
11041	B4GAT1	Hyporeflexia	HP:0001265
11041	B4GAT1	Glaucoma	HP:0000501
11041	B4GAT1	Congenital onset	HP:0003577
11041	B4GAT1	Agenesis of corpus callosum	HP:0001274
11041	B4GAT1	Microcephaly	HP:0000252
11041	B4GAT1	Hydronephrosis	HP:0000126
11043	MID2	Absent speech	HP:0001344
11043	MID2	Hyperactivity	HP:0000752
11043	MID2	Macrotia	HP:0000400
11043	MID2	Poor speech	HP:0002465
11043	MID2	Intellectual disability	HP:0001249
11043	MID2	Seizures	HP:0001250
11043	MID2	Long face	HP:0000276
11043	MID2	Strabismus	HP:0000486
11043	MID2	Congenital onset	HP:0003577
11043	MID2	X-linked recessive inheritance	HP:0001419
11043	MID2	Global developmental delay	HP:0001263
27429	HTRA2	Seizures	HP:0001250
27429	HTRA2	Growth delay	HP:0001510
27429	HTRA2	Cataract	HP:0000518
27429	HTRA2	Ventriculomegaly	HP:0002119
27429	HTRA2	Autosomal recessive inheritance	HP:0000007
27429	HTRA2	Increased serum lactate	HP:0002151
27429	HTRA2	Generalized hypotonia	HP:0001290
27429	HTRA2	Cerebral atrophy	HP:0002059
27429	HTRA2	Postnatal microcephaly	HP:0005484
27429	HTRA2	3-Methylglutaconic aciduria	HP:0003535
27429	HTRA2	Poor suck	HP:0002033
27429	HTRA2	Death in infancy	HP:0001522
27429	HTRA2	Neutropenia	HP:0001875
27429	HTRA2	Dystonia	HP:0001332
27429	HTRA2	Sensorineural hearing impairment	HP:0000407
27429	HTRA2	Apnea	HP:0002104
27429	HTRA2	Tremor	HP:0001337
27429	HTRA2	Increased CSF lactate	HP:0002490
27429	HTRA2	Hypertonia	HP:0001276
27429	HTRA2	Bradycardia	HP:0001662
27429	HTRA2	Respiratory failure	HP:0002878
27429	HTRA2	Hypoplasia of the corpus callosum	HP:0002079
2859	GPR35	Hypoalbuminemia	HP:0003073
2859	GPR35	Portal hypertension	HP:0001409
2859	GPR35	Polyclonal elevation of IgM	HP:0003459
2859	GPR35	Palmar telangiectasia	HP:0100869
2859	GPR35	Ascites	HP:0001541
2859	GPR35	Elevated alkaline phosphatase of hepatic origin	HP:0010638
2859	GPR35	Autoimmunity	HP:0002960
2859	GPR35	Encephalopathy	HP:0001298
2859	GPR35	Chronic hepatic failure	HP:0100626
2859	GPR35	Fever	HP:0001945
2859	GPR35	Hepatosplenomegaly	HP:0001433
2859	GPR35	Pleural effusion	HP:0002202
2859	GPR35	Acute hepatic failure	HP:0006554
2859	GPR35	Abnormal large intestine physiology	HP:0012700
2859	GPR35	Vitamin E deficiency	HP:0100513
2859	GPR35	Weight loss	HP:0001824
2859	GPR35	Vitamin D deficiency	HP:0100512
2859	GPR35	Thyroiditis	HP:0100646
2859	GPR35	Vitamin A deficiency	HP:0004905
2859	GPR35	Type I diabetes mellitus	HP:0100651
2859	GPR35	Uveitis	HP:0000554
2859	GPR35	Osteopenia	HP:0000938
2859	GPR35	Osteoporosis	HP:0000939
2859	GPR35	Celiac disease	HP:0002608
2859	GPR35	Ulcerative colitis	HP:0100279
2859	GPR35	Jaundice	HP:0000952
2859	GPR35	Cholelithiasis	HP:0001081
2859	GPR35	Hepatomegaly	HP:0002240
2859	GPR35	Pancreatitis	HP:0001733
2859	GPR35	Cholangiocarcinoma	HP:0030153
2859	GPR35	Depressivity	HP:0000716
2859	GPR35	Splenomegaly	HP:0001744
2859	GPR35	Adenocarcinoma of the large intestine	HP:0040275
2859	GPR35	Hepatitis	HP:0012115
2859	GPR35	Renal insufficiency	HP:0000083
2859	GPR35	Prolonged prothrombin time	HP:0008151
2859	GPR35	Dilated superficial abdominal veins	HP:0030168
2859	GPR35	Fatigue	HP:0012378
2859	GPR35	Pruritus	HP:0000989
2859	GPR35	Neoplasm of the gallbladder	HP:0100575
2859	GPR35	Elevated hepatic transaminase	HP:0002910
2859	GPR35	Congestive heart failure	HP:0001635
2859	GPR35	Spider hemangioma	HP:0012522
2859	GPR35	Abdominal pain	HP:0002027
2859	GPR35	Cirrhosis	HP:0001394
2859	GPR35	Hepatic fibrosis	HP:0001395
2859	GPR35	Vitamin K deficiency	HP:0011892
2859	GPR35	Generalized amyotrophy	HP:0003700
2859	GPR35	Hepatocellular carcinoma	HP:0001402
27445	PCLO	Hyperreflexia	HP:0001347
27445	PCLO	Autosomal recessive inheritance	HP:0000007
27445	PCLO	Optic atrophy	HP:0000648
27445	PCLO	Proptosis	HP:0000520
27445	PCLO	Cerebral atrophy	HP:0002059
27445	PCLO	Hypoplasia of the pons	HP:0012110
27445	PCLO	Macrotia	HP:0000400
27445	PCLO	High, narrow palate	HP:0002705
27445	PCLO	Long philtrum	HP:0000343
27445	PCLO	Downturned corners of mouth	HP:0002714
27445	PCLO	Progressive	HP:0003676
27445	PCLO	Hypoplasia of the corpus callosum	HP:0002079
27445	PCLO	Depressed nasal bridge	HP:0005280
27445	PCLO	Seizures	HP:0001250
27445	PCLO	Short stature	HP:0004322
27445	PCLO	Decreased body weight	HP:0004325
27445	PCLO	Full cheeks	HP:0000293
27445	PCLO	Neonatal hypotonia	HP:0001319
27445	PCLO	Muscular hypotonia of the trunk	HP:0008936
27445	PCLO	Cerebellar hypoplasia	HP:0001321
27445	PCLO	Spasticity	HP:0001257
27445	PCLO	Hearing impairment	HP:0000365
27445	PCLO	Global developmental delay	HP:0001263
27445	PCLO	Low-set ears	HP:0000369
27445	PCLO	Poor head control	HP:0002421
27445	PCLO	Brachycephaly	HP:0000248
27445	PCLO	Cerebellar atrophy	HP:0001272
27445	PCLO	Congenital onset	HP:0003577
27445	PCLO	Progressive microcephaly	HP:0000253
27445	PCLO	Long palpebral fissure	HP:0000637
27445	PCLO	Hypoplasia of the brainstem	HP:0002365
2876	GPX1	Neonatal hyperbilirubinemia	HP:0003265
2876	GPX1	Autosomal recessive inheritance	HP:0000007
2876	GPX1	Compensated hemolytic anemia	HP:0004863
2879	GPX4	Horizontal inferior border of scapula	HP:0031233
2879	GPX4	Abnormality of the ribs	HP:0000772
2879	GPX4	Brachydactyly	HP:0001156
2879	GPX4	Short ribs	HP:0000773
2879	GPX4	Turricephaly	HP:0000262
2879	GPX4	Narrow chest	HP:0000774
2879	GPX4	Autosomal recessive inheritance	HP:0000007
2879	GPX4	Generalized hypotonia	HP:0001290
2879	GPX4	Large posterior fontanelle	HP:0004491
2879	GPX4	Long fibula	HP:0003085
2879	GPX4	Abnormality of the scapula	HP:0000782
2879	GPX4	Atrioventricular block	HP:0001678
2879	GPX4	Cardiorespiratory arrest	HP:0006543
2879	GPX4	Myocarditis	HP:0012819
2879	GPX4	Focal lissencephaly	HP:0007187
2879	GPX4	Pachygyria	HP:0001302
2879	GPX4	Arrhythmia	HP:0011675
2879	GPX4	Platyspondyly	HP:0000926
2879	GPX4	Depressed nasal bridge	HP:0005280
2879	GPX4	Short finger	HP:0009381
2879	GPX4	Short toe	HP:0001831
2879	GPX4	Cerebellar hypoplasia	HP:0001321
2879	GPX4	Cone-shaped metacarpal epiphyses	HP:0006059
2879	GPX4	Redundant skin	HP:0001582
2879	GPX4	Narrow greater sacrosciatic notches	HP:0003375
2879	GPX4	Flared iliac wings	HP:0002869
2879	GPX4	Short palm	HP:0004279
2879	GPX4	Delayed skeletal maturation	HP:0002750
2879	GPX4	Short metacarpal	HP:0010049
2879	GPX4	Rhizomelia	HP:0008905
2879	GPX4	Short phalanx of finger	HP:0009803
2879	GPX4	Metaphyseal cupping	HP:0003021
2879	GPX4	Irregular tarsal bones	HP:0004688
2879	GPX4	Metaphyseal irregularity	HP:0003025
2879	GPX4	Iliac crest serration	HP:0008786
2879	GPX4	Short long bone	HP:0003026
2879	GPX4	Cone-shaped epiphysis	HP:0010579
2879	GPX4	Porencephalic cyst	HP:0002132
2879	GPX4	Short neck	HP:0000470
2879	GPX4	Widened sacrosciatic notch	HP:0008798
2879	GPX4	Atrial septal defect	HP:0001631
2879	GPX4	Spondylometaphyseal dysplasia	HP:0002657
2879	GPX4	Talipes equinovarus	HP:0001762
2879	GPX4	Posteriorly rotated ears	HP:0000358
2879	GPX4	Delayed epiphyseal ossification	HP:0002663
2879	GPX4	Flat acetabular roof	HP:0003180
2879	GPX4	11 pairs of ribs	HP:0000878
2879	GPX4	Metaphyseal chondrodysplasia	HP:0005871
2879	GPX4	Accelerated skeletal maturation	HP:0005616
2879	GPX4	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
2879	GPX4	Cupped ribs	HP:0000887
2879	GPX4	Agenesis of corpus callosum	HP:0001274
2879	GPX4	Rhizomelic arm shortening	HP:0004991
11078	TRIOBP	Severe sensorineural hearing impairment	HP:0008625
11078	TRIOBP	Autosomal recessive inheritance	HP:0000007
11078	TRIOBP	Infantile onset	HP:0003593
11081	KERA	Decreased corneal thickness	HP:0100689
11081	KERA	Autosomal recessive inheritance	HP:0000007
11081	KERA	Flat cornea	HP:0007720
11081	KERA	Corneal arcus	HP:0001084
11081	KERA	Hypermetropia	HP:0000540
117581	TWIST2	Aplasia/Hypoplasia of the skin	HP:0008065
117581	TWIST2	Umbilical hernia	HP:0001537
117581	TWIST2	Absent nipple	HP:0002561
117581	TWIST2	Omphalocele	HP:0001539
117581	TWIST2	Microtia, third degree	HP:0011267
117581	TWIST2	Sparse hair	HP:0008070
117581	TWIST2	Autosomal dominant inheritance	HP:0000006
117581	TWIST2	Autosomal recessive inheritance	HP:0000007
117581	TWIST2	Camptodactyly of finger	HP:0100490
117581	TWIST2	Multiple cafe-au-lait spots	HP:0007565
117581	TWIST2	Distichiasis	HP:0009743
117581	TWIST2	Ectropion	HP:0000656
117581	TWIST2	High, narrow palate	HP:0002705
117581	TWIST2	Corneal opacity	HP:0007957
117581	TWIST2	Sparse and thin eyebrow	HP:0000535
117581	TWIST2	Abnormality of the mouth	HP:0000153
117581	TWIST2	Downturned corners of mouth	HP:0002714
117581	TWIST2	Wide mouth	HP:0000154
117581	TWIST2	Hypopigmented skin patches	HP:0001053
117581	TWIST2	Atresia of the external auditory canal	HP:0000413
117581	TWIST2	Epicanthus	HP:0000286
117581	TWIST2	Bulbous nose	HP:0000414
117581	TWIST2	Depressed nasal bridge	HP:0005280
117581	TWIST2	Hypoplasia of penis	HP:0008736
117581	TWIST2	Abnormality of male external genitalia	HP:0000032
117581	TWIST2	Myopia	HP:0000545
117581	TWIST2	Sparse or absent eyelashes	HP:0200102
117581	TWIST2	Fine hair	HP:0002213
117581	TWIST2	Abnormality of the sacroiliac joint	HP:0100781
117581	TWIST2	Delayed eruption of teeth	HP:0000684
117581	TWIST2	Hypoplasia of the zygomatic bone	HP:0010669
117581	TWIST2	Redundant skin	HP:0001582
117581	TWIST2	Breast aplasia	HP:0100783
117581	TWIST2	Underdeveloped nasal alae	HP:0000430
117581	TWIST2	Wide nasal bridge	HP:0000431
117581	TWIST2	Absent eyebrow	HP:0002223
117581	TWIST2	Mandibular prognathia	HP:0000303
117581	TWIST2	Multiple rows of eyelashes	HP:0008496
117581	TWIST2	Shawl scrotum	HP:0000049
117581	TWIST2	Absent eyelashes	HP:0000561
117581	TWIST2	Microdontia	HP:0000691
117581	TWIST2	Aplasia/Hypoplasia of the nipples	HP:0006709
117581	TWIST2	Generalized hirsutism	HP:0002230
117581	TWIST2	Abnormality of the upper urinary tract	HP:0010935
117581	TWIST2	Abnormality of female external genitalia	HP:0000055
117581	TWIST2	Hypertelorism	HP:0000316
117581	TWIST2	Short upper lip	HP:0000188
117581	TWIST2	Aged leonine appearance	HP:0008509
117581	TWIST2	Ambiguous genitalia	HP:0000062
117581	TWIST2	Dry skin	HP:0000958
117581	TWIST2	Short metacarpal	HP:0010049
117581	TWIST2	Short philtrum	HP:0000322
117581	TWIST2	Thin skin	HP:0000963
117581	TWIST2	Prematurely aged appearance	HP:0007495
117581	TWIST2	Hypoplasia of the maxilla	HP:0000327
117581	TWIST2	Ectodermal dysplasia	HP:0000968
117581	TWIST2	Depressed nasal ridge	HP:0000457
117581	TWIST2	Hyperextensible skin	HP:0000974
117581	TWIST2	Anteverted nares	HP:0000463
117581	TWIST2	Corneal erosion	HP:0200020
117581	TWIST2	Ablepharon	HP:0011224
117581	TWIST2	Sparse lateral eyebrow	HP:0005338
117581	TWIST2	Micrognathia	HP:0000347
117581	TWIST2	Sparse lower eyelashes	HP:0007776
117581	TWIST2	Abnormal hair pattern	HP:0010720
117581	TWIST2	Excessive wrinkled skin	HP:0007392
117581	TWIST2	Intellectual disability	HP:0001249
117581	TWIST2	Talipes equinovarus	HP:0001762
117581	TWIST2	Failure to thrive	HP:0001508
117581	TWIST2	Strabismus	HP:0000486
117581	TWIST2	Cryptophthalmos	HP:0001126
117581	TWIST2	Growth delay	HP:0001510
117581	TWIST2	Hypertrichosis	HP:0000998
117581	TWIST2	Anal atresia	HP:0002023
117581	TWIST2	Microtia	HP:0008551
117581	TWIST2	Abnormality of skin pigmentation	HP:0001000
117581	TWIST2	Aplasia/Hypoplasia of the eyebrow	HP:0100840
117581	TWIST2	Thin vermilion border	HP:0000233
117581	TWIST2	Toe syndactyly	HP:0001770
117581	TWIST2	Hearing impairment	HP:0000365
117581	TWIST2	Downslanted palpebral fissures	HP:0000494
117581	TWIST2	Delayed speech and language development	HP:0000750
117581	TWIST2	Dermal atrophy	HP:0004334
117581	TWIST2	Global developmental delay	HP:0001263
117581	TWIST2	Abnormal nasal morphology	HP:0005105
117581	TWIST2	Low-set ears	HP:0000369
117581	TWIST2	Breast hypoplasia	HP:0003187
117581	TWIST2	Periorbital fullness	HP:0000629
117581	TWIST2	Ventral hernia	HP:0002933
117581	TWIST2	Lacrimation abnormality	HP:0000632
117581	TWIST2	Highly arched eyebrow	HP:0002553
117581	TWIST2	Abnormality of the pinna	HP:0000377
117581	TWIST2	Visual impairment	HP:0000505
117581	TWIST2	Telecanthus	HP:0000506
117581	TWIST2	Hypoplastic nipples	HP:0002557
117581	TWIST2	Dimple chin	HP:0010751
2892	GRIA3	Macrocephaly	HP:0000256
2892	GRIA3	Intellectual disability	HP:0001249
2892	GRIA3	Seizures	HP:0001250
2892	GRIA3	Short stature	HP:0004322
2892	GRIA3	Deeply set eye	HP:0000490
2892	GRIA3	X-linked recessive inheritance	HP:0001419
2892	GRIA3	Autism	HP:0000717
2892	GRIA3	Aggressive behavior	HP:0000718
2892	GRIA3	Intellectual disability, severe	HP:0010864
2892	GRIA3	Prominent supraorbital ridges	HP:0000336
2892	GRIA3	Hyporeflexia	HP:0001265
2892	GRIA3	Brachycephaly	HP:0000248
2892	GRIA3	Myoclonus	HP:0001336
2892	GRIA3	Distal muscle weakness	HP:0002460
2892	GRIA3	Slender build	HP:0001533
2893	GRIA4	Delayed ability to walk	HP:0031936
2893	GRIA4	Absent speech	HP:0001344
2893	GRIA4	Irritability	HP:0000737
2893	GRIA4	Optic nerve hypoplasia	HP:0000609
2893	GRIA4	Intellectual disability	HP:0001249
2893	GRIA4	Strabismus	HP:0000486
2893	GRIA4	Neonatal hypotonia	HP:0001319
2893	GRIA4	Cerebral cortical atrophy	HP:0002120
2893	GRIA4	Attention deficit hyperactivity disorder	HP:0007018
2893	GRIA4	Inability to walk	HP:0002540
2893	GRIA4	Spastic tetraplegia	HP:0002510
2893	GRIA4	Global developmental delay	HP:0001263
2893	GRIA4	Variable expressivity	HP:0003828
2893	GRIA4	Status epilepticus	HP:0002133
2893	GRIA4	Chorea	HP:0002072
2893	GRIA4	Nystagmus	HP:0000639
2893	GRIA4	Hypoplasia of the corpus callosum	HP:0002079
2895	GRID2	Gaze-evoked nystagmus	HP:0000640
2895	GRID2	Hyperreflexia	HP:0001347
2895	GRID2	Autosomal recessive inheritance	HP:0000007
2895	GRID2	Incoordination	HP:0002311
2895	GRID2	Cerebellar vermis atrophy	HP:0006855
2895	GRID2	Infantile onset	HP:0003593
2895	GRID2	Generalized hypotonia	HP:0001290
2895	GRID2	Oculomotor apraxia	HP:0000657
2895	GRID2	Gait ataxia	HP:0002066
2895	GRID2	Limb ataxia	HP:0002070
2895	GRID2	Horizontal nystagmus	HP:0000666
2895	GRID2	Flexion contracture	HP:0001371
2895	GRID2	Dysdiadochokinesis	HP:0002075
2895	GRID2	Brain atrophy	HP:0012444
2895	GRID2	Dysmetria	HP:0001310
2895	GRID2	Truncal ataxia	HP:0002078
2895	GRID2	Babinski sign	HP:0003487
2895	GRID2	Optic disc pallor	HP:0000543
2895	GRID2	Poor speech	HP:0002465
2895	GRID2	Dysarthria	HP:0001260
2895	GRID2	Global developmental delay	HP:0001263
2895	GRID2	Difficulty walking	HP:0002355
2895	GRID2	Esotropia	HP:0000565
2895	GRID2	Neurological speech impairment	HP:0002167
2895	GRID2	Cerebellar atrophy	HP:0001272
2895	GRID2	Cognitive impairment	HP:0100543
2895	GRID2	Nystagmus	HP:0000639
2896	GRN	Collectionism	HP:0030212
2896	GRN	Emotional blunting	HP:0030213
2896	GRN	Autosomal dominant inheritance	HP:0000006
2896	GRN	Hypersexuality	HP:0030214
2896	GRN	Autosomal recessive inheritance	HP:0000007
2896	GRN	Optic atrophy	HP:0000648
2896	GRN	Gait disturbance	HP:0001288
2896	GRN	Neurofibrillary tangles	HP:0002185
2896	GRN	Dyscalculia	HP:0002442
2896	GRN	Apraxia	HP:0002186
2896	GRN	Visual agnosia	HP:0030222
2896	GRN	Astrocytosis	HP:0002446
2896	GRN	Perseveration	HP:0030223
2896	GRN	Parkinsonism	HP:0001300
2896	GRN	Generalized tonic-clonic seizures	HP:0002069
2896	GRN	Abnormality of extrapyramidal motor function	HP:0002071
2896	GRN	Progressive language deterioration	HP:0007064
2896	GRN	Dyslexia	HP:0010522
2896	GRN	Alexia	HP:0010523
2896	GRN	Brain atrophy	HP:0012444
2896	GRN	Dysgraphia	HP:0010526
2896	GRN	Polyphagia	HP:0002591
2896	GRN	Echolalia	HP:0010529
2896	GRN	Poor speech	HP:0002465
2896	GRN	Senile plaques	HP:0100256
2896	GRN	Retinal dystrophy	HP:0000556
2896	GRN	Dilation of lateral ventricles	HP:0006956
2896	GRN	EEG abnormality	HP:0002353
2896	GRN	Memory impairment	HP:0002354
2896	GRN	Dysphasia	HP:0002357
2896	GRN	Spoken Word Recognition Deficit	HP:0030391
2896	GRN	Repetitive compulsive behavior	HP:0008762
2896	GRN	Upper motor neuron dysfunction	HP:0002493
2896	GRN	Abnormal lower motor neuron morphology	HP:0002366
2896	GRN	Anomia	HP:0030784
2896	GRN	Grammar-specific speech disorder	HP:0006977
2896	GRN	Loss of speech	HP:0002371
2896	GRN	Hyperreflexia	HP:0001347
2896	GRN	EEG with continuous slow activity	HP:0011204
2896	GRN	Abnormality of the cerebral white matter	HP:0002500
2896	GRN	Psychosis	HP:0000709
2896	GRN	Hyperorality	HP:0000710
2896	GRN	Restlessness	HP:0000711
2896	GRN	Temporal cortical atrophy	HP:0007112
2896	GRN	Cerebral cortical atrophy	HP:0002120
2896	GRN	Agitation	HP:0000713
2896	GRN	Generalized myoclonic seizures	HP:0002123
2896	GRN	Fasciculations	HP:0002380
2896	GRN	Depressivity	HP:0000716
2896	GRN	Aphasia	HP:0002381
2896	GRN	Aggressive behavior	HP:0000718
2896	GRN	Inappropriate behavior	HP:0000719
2896	GRN	Restrictive behavior	HP:0000723
2896	GRN	Dementia	HP:0000726
2896	GRN	Thickened nuchal skin fold	HP:0000474
2896	GRN	Lewy bodies	HP:0100315
2896	GRN	Stereotypy	HP:0000733
2896	GRN	Rapidly progressive	HP:0003678
2896	GRN	Disinhibition	HP:0000734
2896	GRN	Irritability	HP:0000737
2896	GRN	Frontotemporal dementia	HP:0002145
2896	GRN	Neuronal loss in central nervous system	HP:0002529
2896	GRN	Hallucinations	HP:0000738
2896	GRN	Ataxia	HP:0001251
2896	GRN	Anxiety	HP:0000739
2896	GRN	Apathy	HP:0000741
2896	GRN	Frontotemporal cerebral atrophy	HP:0006892
2896	GRN	Personality changes	HP:0000751
2896	GRN	Abnormal brain FDG positron emission tomography	HP:0012658
2896	GRN	Mental deterioration	HP:0001268
2896	GRN	Lack of insight	HP:0000757
2896	GRN	Cerebellar atrophy	HP:0001272
2896	GRN	Visual impairment	HP:0000505
2896	GRN	Motor aphasia	HP:0002427
2896	GRN	Gliosis	HP:0002171
2896	GRN	Mutism	HP:0002300
2896	GRN	Abulia	HP:0012671
84816	RTN4IP1	Ataxia	HP:0001251
84816	RTN4IP1	Photophobia	HP:0000613
84816	RTN4IP1	Autosomal recessive inheritance	HP:0000007
84816	RTN4IP1	Intellectual disability, mild	HP:0001256
84816	RTN4IP1	Central scotoma	HP:0000603
84816	RTN4IP1	Optic disc pallor	HP:0000543
84816	RTN4IP1	Nystagmus	HP:0000639
84816	RTN4IP1	Reduced visual acuity	HP:0007663
2898	GRIK2	Intellectual disability	HP:0001249
2898	GRIK2	Seizures	HP:0001250
2898	GRIK2	Dystonia	HP:0001332
2898	GRIK2	Autosomal recessive inheritance	HP:0000007
2898	GRIK2	Myoclonus	HP:0001336
2898	GRIK2	Infantile onset	HP:0003593
2898	GRIK2	Tremor	HP:0001337
2898	GRIK2	Global developmental delay	HP:0001263
84818	IL17RC	Dyspareunia	HP:0030016
84818	IL17RC	Hyperkeratosis	HP:0000962
84818	IL17RC	Abnormal toenail morphology	HP:0008388
84818	IL17RC	Autosomal recessive inheritance	HP:0000007
84818	IL17RC	Recurrent urinary tract infections	HP:0000010
84818	IL17RC	Abnormal vagina morphology	HP:0000142
84818	IL17RC	Abnormal fingernail morphology	HP:0001231
84818	IL17RC	Abnormality of temperature regulation	HP:0004370
84818	IL17RC	Abnormal endocardium morphology	HP:0004306
84818	IL17RC	Hepatitis	HP:0012115
84818	IL17RC	Hematuria	HP:0000790
84818	IL17RC	Cheilitis	HP:0100825
84818	IL17RC	Skin rash	HP:0000988
84818	IL17RC	Broad nail	HP:0001821
84818	IL17RC	Pruritus	HP:0000989
84818	IL17RC	Recurrent respiratory infections	HP:0002205
84818	IL17RC	Erythema	HP:0010783
84818	IL17RC	Papule	HP:0200034
84818	IL17RC	Seizures	HP:0001250
84818	IL17RC	Recurrent aphthous stomatitis	HP:0011107
84818	IL17RC	Feeding difficulties in infancy	HP:0008872
84818	IL17RC	Skin ulcer	HP:0200042
84818	IL17RC	Abnormality of dental enamel	HP:0000682
84818	IL17RC	Onychomycosis	HP:0012203
84818	IL17RC	Abnormality of vision	HP:0000504
84818	IL17RC	Hemoptysis	HP:0002105
84818	IL17RC	Cough	HP:0012735
11093	ADAMTS13	Increased blood urea nitrogen	HP:0003138
11093	ADAMTS13	Reticulocytosis	HP:0001923
11093	ADAMTS13	Hemolytic-uremic syndrome	HP:0005575
11093	ADAMTS13	Increased serum lactate	HP:0002151
11093	ADAMTS13	Autosomal recessive inheritance	HP:0000007
11093	ADAMTS13	Confusion	HP:0001289
11093	ADAMTS13	Heterogeneous	HP:0001425
11093	ADAMTS13	Microangiopathic hemolytic anemia	HP:0001937
11093	ADAMTS13	Thrombocytopenia	HP:0001873
11093	ADAMTS13	Respiratory distress	HP:0002098
11093	ADAMTS13	Prolonged neonatal jaundice	HP:0006579
11093	ADAMTS13	Jaundice	HP:0000952
11093	ADAMTS13	Tremor	HP:0001337
11093	ADAMTS13	Fever	HP:0001945
11093	ADAMTS13	Microscopic hematuria	HP:0002907
11093	ADAMTS13	Elevated serum creatinine	HP:0003259
11093	ADAMTS13	Schistocytosis	HP:0001981
11093	ADAMTS13	Proteinuria	HP:0000093
2902	GRIN1	Absent speech	HP:0001344
2902	GRIN1	Feeding difficulties	HP:0011968
2902	GRIN1	Hyperreflexia	HP:0001347
2902	GRIN1	Epileptic encephalopathy	HP:0200134
2902	GRIN1	Autosomal dominant inheritance	HP:0000006
2902	GRIN1	Autosomal recessive inheritance	HP:0000007
2902	GRIN1	Cerebral cortical atrophy	HP:0002120
2902	GRIN1	Infantile onset	HP:0003593
2902	GRIN1	Cerebral atrophy	HP:0002059
2902	GRIN1	Polymicrogyria	HP:0002126
2902	GRIN1	Involuntary movements	HP:0004305
2902	GRIN1	Chorea	HP:0002072
2902	GRIN1	Hypoplasia of the corpus callosum	HP:0002079
2902	GRIN1	Intellectual disability	HP:0001249
2902	GRIN1	Cerebral visual impairment	HP:0100704
2902	GRIN1	Seizures	HP:0001250
2902	GRIN1	Constipation	HP:0002019
2902	GRIN1	Strabismus	HP:0000486
2902	GRIN1	Spasticity	HP:0001257
2902	GRIN1	Inability to walk	HP:0002540
2902	GRIN1	Self-injurious behavior	HP:0100716
2902	GRIN1	Global developmental delay	HP:0001263
2902	GRIN1	Intellectual disability, severe	HP:0010864
2902	GRIN1	EEG abnormality	HP:0002353
2902	GRIN1	Poor eye contact	HP:0000817
2902	GRIN1	Dystonia	HP:0001332
2902	GRIN1	Dyskinesia	HP:0100660
2902	GRIN1	Myoclonus	HP:0001336
2902	GRIN1	Oculogyric crisis	HP:0010553
84823	LMNB2	Autosomal recessive inheritance	HP:0000007
84823	LMNB2	Ventriculomegaly	HP:0002119
84823	LMNB2	Arthralgia	HP:0002829
84823	LMNB2	Autoimmunity	HP:0002960
84823	LMNB2	Progeroid facial appearance	HP:0005328
84823	LMNB2	Gait ataxia	HP:0002066
84823	LMNB2	Glomerulopathy	HP:0100820
84823	LMNB2	Status epilepticus	HP:0002133
84823	LMNB2	Insulin resistance	HP:0000855
84823	LMNB2	Lymphocytosis	HP:0100827
84823	LMNB2	Scoliosis	HP:0002650
84823	LMNB2	Microscopic hematuria	HP:0002907
84823	LMNB2	Progressive	HP:0003676
84823	LMNB2	Proteinuria	HP:0000093
84823	LMNB2	Intellectual disability	HP:0001249
84823	LMNB2	Immunodeficiency	HP:0002721
84823	LMNB2	Seizures	HP:0001250
84823	LMNB2	Lipoatrophy	HP:0100578
84823	LMNB2	Microglossia	HP:0000171
84823	LMNB2	Decreased serum complement C3	HP:0005421
84823	LMNB2	Hearing impairment	HP:0000365
84823	LMNB2	Global developmental delay	HP:0001263
84823	LMNB2	Short thumb	HP:0009778
84823	LMNB2	Generalized amyotrophy	HP:0003700
84823	LMNB2	Hepatic steatosis	HP:0001397
84823	LMNB2	Generalized hirsutism	HP:0002230
84823	LMNB2	Myoclonus	HP:0001336
84823	LMNB2	Myopathy	HP:0003198
2903	GRIN2A	Intellectual disability	HP:0001249
2903	GRIN2A	Seizures	HP:0001250
2903	GRIN2A	Behavioral abnormality	HP:0000708
2903	GRIN2A	Autosomal dominant inheritance	HP:0000006
2903	GRIN2A	Attention deficit hyperactivity disorder	HP:0007018
2903	GRIN2A	EEG with centrotemporal focal spike waves	HP:0012557
2903	GRIN2A	Aphasia	HP:0002381
2903	GRIN2A	Delayed speech and language development	HP:0000750
2903	GRIN2A	Global developmental delay	HP:0001263
2903	GRIN2A	Variable expressivity	HP:0003828
2903	GRIN2A	Incomplete penetrance	HP:0003829
2903	GRIN2A	Dysphasia	HP:0002357
2903	GRIN2A	Speech apraxia	HP:0011098
2903	GRIN2A	Agnosia	HP:0010524
2904	GRIN2B	Absent speech	HP:0001344
2904	GRIN2B	Intellectual disability	HP:0001249
2904	GRIN2B	Seizures	HP:0001250
2904	GRIN2B	Behavioral abnormality	HP:0000708
2904	GRIN2B	Epileptic encephalopathy	HP:0200134
2904	GRIN2B	Autosomal dominant inheritance	HP:0000006
2904	GRIN2B	Developmental regression	HP:0002376
2904	GRIN2B	Spasticity	HP:0001257
2904	GRIN2B	Generalized hypotonia	HP:0001290
2904	GRIN2B	Global developmental delay	HP:0001263
2904	GRIN2B	Abnormality of skin morphology	HP:0011121
2904	GRIN2B	EEG abnormality	HP:0002353
2904	GRIN2B	Variable expressivity	HP:0003828
2904	GRIN2B	Dystonia	HP:0001332
2904	GRIN2B	Dyskinesia	HP:0100660
2904	GRIN2B	Infantile spasms	HP:0012469
2904	GRIN2B	Chorea	HP:0002072
2904	GRIN2B	Myoclonus	HP:0001336
2904	GRIN2B	Hypsarrhythmia	HP:0002521
2906	GRIN2D	Autosomal dominant inheritance	HP:0000006
2906	GRIN2D	Optic atrophy	HP:0000648
2906	GRIN2D	Infantile onset	HP:0003593
2906	GRIN2D	Generalized hypotonia	HP:0001290
2906	GRIN2D	Cerebral atrophy	HP:0002059
2906	GRIN2D	Unsteady gait	HP:0002317
2906	GRIN2D	Rigidity	HP:0002063
2906	GRIN2D	Encephalopathy	HP:0001298
2906	GRIN2D	Decreased fetal movement	HP:0001558
2906	GRIN2D	Hypodontia	HP:0000668
2906	GRIN2D	Abnormal myelination	HP:0012447
2906	GRIN2D	Retinal degeneration	HP:0000546
2906	GRIN2D	Difficulty walking	HP:0002355
2906	GRIN2D	Dyskinesia	HP:0100660
2906	GRIN2D	Myoclonus	HP:0001336
2906	GRIN2D	Tremor	HP:0001337
2906	GRIN2D	Feeding difficulties	HP:0011968
2906	GRIN2D	Absent speech	HP:0001344
2906	GRIN2D	Epileptic encephalopathy	HP:0200134
2906	GRIN2D	Developmental regression	HP:0002376
2906	GRIN2D	Limb hypertonia	HP:0002509
2906	GRIN2D	Autism	HP:0000717
2906	GRIN2D	Status epilepticus	HP:0002133
2906	GRIN2D	Hypsarrhythmia	HP:0002521
2906	GRIN2D	High forehead	HP:0000348
2906	GRIN2D	EEG with multifocal slow activity	HP:0010844
2906	GRIN2D	Dysphagia	HP:0002015
2906	GRIN2D	Intellectual disability	HP:0001249
2906	GRIN2D	Cerebral visual impairment	HP:0100704
2906	GRIN2D	Short stature	HP:0004322
2906	GRIN2D	Seizures	HP:0001250
2906	GRIN2D	Ataxia	HP:0001251
2906	GRIN2D	Pes planus	HP:0001763
2906	GRIN2D	Gastroesophageal reflux	HP:0002020
2906	GRIN2D	Failure to thrive	HP:0001508
2906	GRIN2D	Phenotypic variability	HP:0003812
2906	GRIN2D	Impulsivity	HP:0100710
2906	GRIN2D	Muscular hypotonia of the trunk	HP:0008936
2906	GRIN2D	Spasticity	HP:0001257
2906	GRIN2D	Attention deficit hyperactivity disorder	HP:0007018
2906	GRIN2D	Downslanted palpebral fissures	HP:0000494
2906	GRIN2D	Delayed speech and language development	HP:0000750
2906	GRIN2D	Global developmental delay	HP:0001263
2906	GRIN2D	Hyporeflexia	HP:0001265
2906	GRIN2D	Mental deterioration	HP:0001268
2906	GRIN2D	Poor head control	HP:0002421
2906	GRIN2D	Abnormality of vision	HP:0000504
2906	GRIN2D	Abnormal corpus callosum morphology	HP:0001273
2906	GRIN2D	Microcephaly	HP:0000252
2906	GRIN2D	Ptosis	HP:0000508
2906	GRIN2D	Hypertonia	HP:0001276
2906	GRIN2D	Nystagmus	HP:0000639
2908	NR3C1	Anxiety	HP:0000739
2908	NR3C1	Acne	HP:0001061
2908	NR3C1	Autosomal dominant inheritance	HP:0000006
2908	NR3C1	Abnormal serum testosterone level	HP:0030087
2908	NR3C1	Oligomenorrhea	HP:0000876
2908	NR3C1	Increased circulating cortisol level	HP:0003118
2908	NR3C1	Hirsutism	HP:0001007
2908	NR3C1	Metabolic alkalosis	HP:0200114
2908	NR3C1	Stroke	HP:0001297
2908	NR3C1	Increased circulating ACTH level	HP:0003154
2908	NR3C1	Frontal balding	HP:0002292
2908	NR3C1	Hypokalemia	HP:0002900
2908	NR3C1	Infertility	HP:0000789
2908	NR3C1	Hypertension	HP:0000822
2908	NR3C1	Hypoglycemia	HP:0001943
2908	NR3C1	Fatigue	HP:0012378
2908	NR3C1	Menstrual irregularities	HP:0000858
2908	NR3C1	Precocious puberty	HP:0000826
2908	NR3C1	Female pseudohermaphroditism	HP:0010458
2908	NR3C1	Adrenal hyperplasia	HP:0008221
2908	NR3C1	Increased urinary cortisol level	HP:0012030
2908	NR3C1	Ambiguous genitalia	HP:0000062
2908	NR3C1	Oligospermia	HP:0000798
2908	NR3C1	Decreased circulating aldosterone level	HP:0004319
2911	GRM1	Absent speech	HP:0001344
2911	GRM1	Hyperreflexia	HP:0001347
2911	GRM1	Autosomal recessive inheritance	HP:0000007
2911	GRM1	Ventriculomegaly	HP:0002119
2911	GRM1	Infantile onset	HP:0003593
2911	GRM1	Generalized hypotonia	HP:0001290
2911	GRM1	Gait ataxia	HP:0002066
2911	GRM1	Abnormality of ocular abduction	HP:0011347
2911	GRM1	Abnormal pyramidal sign	HP:0007256
2911	GRM1	Horizontal nystagmus	HP:0000666
2911	GRM1	Dysdiadochokinesis	HP:0002075
2911	GRM1	Inferior vermis hypoplasia	HP:0007068
2911	GRM1	Slow progression	HP:0003677
2911	GRM1	Dysmetria	HP:0001310
2911	GRM1	Intellectual disability	HP:0001249
2911	GRM1	Short stature	HP:0004322
2911	GRM1	Seizures	HP:0001250
2911	GRM1	Pes planus	HP:0001763
2911	GRM1	Limb dysmetria	HP:0002406
2911	GRM1	Retrocerebellar cyst	HP:0006951
2911	GRM1	Spasticity	HP:0001257
2911	GRM1	Hypermetric saccades	HP:0007338
2911	GRM1	Gaze-evoked horizontal nystagmus	HP:0007979
2911	GRM1	Dysarthria	HP:0001260
2911	GRM1	Delayed speech and language development	HP:0000750
2911	GRM1	Global developmental delay	HP:0001263
2911	GRM1	Difficulty standing	HP:0003698
2911	GRM1	Esotropia	HP:0000565
2911	GRM1	Motor delay	HP:0001270
2911	GRM1	Frequent falls	HP:0002359
2911	GRM1	Polyneuropathy	HP:0001271
2911	GRM1	Cerebellar atrophy	HP:0001272
2911	GRM1	Tremor	HP:0001337
2911	GRM1	Hypometric saccades	HP:0000571
2911	GRM1	Ptosis	HP:0000508
11107	PRDM5	Umbilical hernia	HP:0001537
11107	PRDM5	Recurrent fractures	HP:0002757
11107	PRDM5	Sclerocornea	HP:0000647
11107	PRDM5	Autosomal recessive inheritance	HP:0000007
11107	PRDM5	Gait disturbance	HP:0001288
11107	PRDM5	Hyperextensible skin	HP:0000974
11107	PRDM5	Arachnodactyly	HP:0001166
11107	PRDM5	Blue sclerae	HP:0000592
11107	PRDM5	Soft skin	HP:0000977
11107	PRDM5	Bruising susceptibility	HP:0000978
11107	PRDM5	Conductive hearing impairment	HP:0000405
11107	PRDM5	Corneal erosion	HP:0200020
11107	PRDM5	Sensorineural hearing impairment	HP:0000407
11107	PRDM5	Inguinal hernia	HP:0000023
11107	PRDM5	Scoliosis	HP:0002650
11107	PRDM5	Retinal detachment	HP:0000541
11107	PRDM5	Hallux valgus	HP:0001822
11107	PRDM5	Keratoglobus	HP:0001119
11107	PRDM5	Abnormality of hair pigmentation	HP:0009887
11107	PRDM5	Camptodactyly	HP:0012385
11107	PRDM5	Myopia	HP:0000545
11107	PRDM5	Mitral valve prolapse	HP:0001634
11107	PRDM5	Pes planus	HP:0001763
11107	PRDM5	Increased susceptibility to fractures	HP:0002659
11107	PRDM5	Abnormality of the dentition	HP:0000164
11107	PRDM5	Megalocornea	HP:0000485
11107	PRDM5	Joint hypermobility	HP:0001382
11107	PRDM5	Neonatal hypotonia	HP:0001319
11107	PRDM5	Flat cornea	HP:0007720
11107	PRDM5	Hip dysplasia	HP:0001385
11107	PRDM5	Pulmonic stenosis	HP:0001642
11107	PRDM5	Abnormality of epiphysis morphology	HP:0005930
11107	PRDM5	Osteoporosis	HP:0000939
11107	PRDM5	Corneal dystrophy	HP:0001131
11107	PRDM5	Hearing impairment	HP:0000365
11107	PRDM5	Cleft palate	HP:0000175
11107	PRDM5	Corneal scarring	HP:0000559
11107	PRDM5	Keratoconus	HP:0000563
11107	PRDM5	Glaucoma	HP:0000501
11107	PRDM5	Hernia	HP:0100790
11107	PRDM5	High myopia	HP:0011003
11107	PRDM5	Visual loss	HP:0000572
11107	PRDM5	Joint hyperflexibility	HP:0005692
11107	PRDM5	Myalgia	HP:0003326
2916	GRM6	Myopia	HP:0000545
2916	GRM6	Abnormality of macular pigmentation	HP:0008002
2916	GRM6	Optic disc hypoplasia	HP:0007766
2916	GRM6	Nyctalopia	HP:0000662
2916	GRM6	Strabismus	HP:0000486
2916	GRM6	Autosomal recessive inheritance	HP:0000007
2916	GRM6	Congenital stationary night blindness	HP:0007642
2916	GRM6	High myopia	HP:0011003
2916	GRM6	Hemeralopia	HP:0012047
2916	GRM6	Nystagmus	HP:0000639
2916	GRM6	Reduced visual acuity	HP:0007663
84839	RAX2	Macular degeneration	HP:0000608
84839	RAX2	Bull's eye maculopathy	HP:0011504
84839	RAX2	Slow decrease in visual acuity	HP:0007924
84839	RAX2	Pallor	HP:0000980
84839	RAX2	Cone/cone-rod dystrophy	HP:0000548
84839	RAX2	Photophobia	HP:0000613
84839	RAX2	Nyctalopia	HP:0000662
84839	RAX2	Autosomal dominant inheritance	HP:0000006
84839	RAX2	Color vision defect	HP:0000551
84839	RAX2	Abnormality of retinal pigmentation	HP:0007703
84839	RAX2	Visual impairment	HP:0000505
84839	RAX2	Macular atrophy	HP:0007401
11113	CIT	Hyperreflexia	HP:0001347
11113	CIT	Upslanted palpebral fissure	HP:0000582
11113	CIT	Ventriculomegaly	HP:0002119
11113	CIT	Autosomal recessive inheritance	HP:0000007
11113	CIT	Vesicoureteral reflux	HP:0000076
11113	CIT	Macrotia	HP:0000400
11113	CIT	Sloping forehead	HP:0000340
11113	CIT	Pachygyria	HP:0001302
11113	CIT	Simplified gyral pattern	HP:0009879
11113	CIT	Thin upper lip vermilion	HP:0000219
11113	CIT	Bulbous nose	HP:0000414
11113	CIT	Abnormal cortical bone morphology	HP:0003103
11113	CIT	Intellectual disability	HP:0001249
11113	CIT	Short stature	HP:0004322
11113	CIT	Seizures	HP:0001250
11113	CIT	Failure to thrive	HP:0001508
11113	CIT	Hypoplasia of the frontal lobes	HP:0007333
11113	CIT	Renal agenesis	HP:0000104
11113	CIT	Cerebellar hypoplasia	HP:0001321
11113	CIT	Spasticity	HP:0001257
11113	CIT	Gray matter heterotopia	HP:0002282
11113	CIT	Global developmental delay	HP:0001263
11113	CIT	Intellectual disability, severe	HP:0010864
11113	CIT	Variable expressivity	HP:0003828
11113	CIT	Thick vermilion border	HP:0012471
11113	CIT	Congenital onset	HP:0003577
11113	CIT	Unilateral renal agenesis	HP:0000122
11113	CIT	Agenesis of corpus callosum	HP:0001274
11113	CIT	Microcephaly	HP:0000252
11113	CIT	Hypertelorism	HP:0000316
11113	CIT	Hypoplasia of the brainstem	HP:0002365
2934	GSN	Generalized amyloid deposition	HP:0003216
2934	GSN	Renal insufficiency	HP:0000083
2934	GSN	Bulbar palsy	HP:0001283
2934	GSN	Nephrotic syndrome	HP:0000100
2934	GSN	Autosomal dominant inheritance	HP:0000006
2934	GSN	Cardiomyopathy	HP:0001638
2934	GSN	Polyneuropathy	HP:0001271
2934	GSN	Cardiac amyloidosis	HP:0030843
2934	GSN	Adult onset	HP:0003581
2934	GSN	Cutis laxa	HP:0000973
2934	GSN	Lattice corneal dystrophy	HP:0001149
2934	GSN	Abnormality of abdomen morphology	HP:0001438
11128	POLR3A	Macrocephaly	HP:0000256
11128	POLR3A	Small nail	HP:0001792
11128	POLR3A	Drooling	HP:0002307
11128	POLR3A	Gynecomastia	HP:0000771
11128	POLR3A	Autosomal recessive inheritance	HP:0000007
11128	POLR3A	Clumsiness	HP:0002312
11128	POLR3A	Generalized hypotonia	HP:0001290
11128	POLR3A	Long toe	HP:0010511
11128	POLR3A	Malar flattening	HP:0000272
11128	POLR3A	Prominent scalp veins	HP:0001043
11128	POLR3A	Sparse and thin eyebrow	HP:0000535
11128	POLR3A	Short femur	HP:0003097
11128	POLR3A	Cryptorchidism	HP:0000028
11128	POLR3A	Dysmetria	HP:0001310
11128	POLR3A	Truncal ataxia	HP:0002078
11128	POLR3A	Hypoplasia of the corpus callosum	HP:0002079
11128	POLR3A	Intention tremor	HP:0002080
11128	POLR3A	Myopia	HP:0000545
11128	POLR3A	Long penis	HP:0000040
11128	POLR3A	Cerebellar hypoplasia	HP:0001321
11128	POLR3A	Long foot	HP:0001833
11128	POLR3A	Hypogonadotrophic hypogonadism	HP:0000044
11128	POLR3A	Hypergonadotropic hypogonadism	HP:0000815
11128	POLR3A	Hypospadias	HP:0000047
11128	POLR3A	Dystonia	HP:0001332
11128	POLR3A	Delayed puberty	HP:0000823
11128	POLR3A	Hypertelorism	HP:0000316
11128	POLR3A	Absence of subcutaneous fat	HP:0007485
11128	POLR3A	Hyperreflexia	HP:0001347
11128	POLR3A	Triangular face	HP:0000325
11128	POLR3A	Upslanted palpebral fissure	HP:0000582
11128	POLR3A	Premature skin wrinkling	HP:0100678
11128	POLR3A	Cerebral cortical atrophy	HP:0002120
11128	POLR3A	Developmental regression	HP:0002376
11128	POLR3A	Abnormal upper motor neuron morphology	HP:0002127
11128	POLR3A	Blue sclerae	HP:0000592
11128	POLR3A	Abnormality of the basal ganglia	HP:0002134
11128	POLR3A	Flexion contracture	HP:0001371
11128	POLR3A	Micrognathia	HP:0000347
11128	POLR3A	Progressive	HP:0003676
11128	POLR3A	Positive Romberg sign	HP:0002403
11128	POLR3A	CNS hypomyelination	HP:0003429
11128	POLR3A	Peripheral neuropathy	HP:0009830
11128	POLR3A	Abnormality of ocular smooth pursuit	HP:0000617
11128	POLR3A	Hypertriglyceridemia	HP:0002155
11128	POLR3A	Entropion	HP:0000621
11128	POLR3A	Leukodystrophy	HP:0002415
11128	POLR3A	Low-set ears	HP:0000369
11128	POLR3A	Thin ribs	HP:0000883
11128	POLR3A	High myoinositol in brain by MRS	HP:0025460
11128	POLR3A	Impaired vibration sensation in the lower limbs	HP:0002166
11128	POLR3A	Postural tremor	HP:0002174
11128	POLR3A	Nystagmus	HP:0000639
11128	POLR3A	Absent earlobe	HP:0000387
11128	POLR3A	Optic atrophy	HP:0000648
11128	POLR3A	Increased serum testosterone level	HP:0030088
11128	POLR3A	Widely patent fontanelles and sutures	HP:0004492
11128	POLR3A	Sparse eyelashes	HP:0000653
11128	POLR3A	Ectropion	HP:0000656
11128	POLR3A	Large hands	HP:0001176
11128	POLR3A	Hypodontia	HP:0000668
11128	POLR3A	Recurrent respiratory infections	HP:0002205
11128	POLR3A	Babinski sign	HP:0003487
11128	POLR3A	Spastic dysarthria	HP:0002464
11128	POLR3A	Narrow mouth	HP:0000160
11128	POLR3A	Short humerus	HP:0005792
11128	POLR3A	Sparse scalp hair	HP:0002209
11128	POLR3A	Narrow nasal ridge	HP:0000418
11128	POLR3A	Oligodontia	HP:0000677
11128	POLR3A	Delayed eruption of teeth	HP:0000684
11128	POLR3A	Reduced subcutaneous adipose tissue	HP:0003758
11128	POLR3A	Hypoplastic ilia	HP:0000946
11128	POLR3A	Natal tooth	HP:0000695
11128	POLR3A	Feeding difficulties	HP:0011968
11128	POLR3A	Thin skin	HP:0000963
11128	POLR3A	Delayed closure of the anterior fontanelle	HP:0001476
11128	POLR3A	Sudanophilic leukodystrophy	HP:0003269
11128	POLR3A	Long fingers	HP:0100807
11128	POLR3A	Impaired distal proprioception	HP:0006858
11128	POLR3A	Abnormality of cardiovascular system morphology	HP:0030680
11128	POLR3A	Autonomic bladder dysfunction	HP:0005341
11128	POLR3A	Dysphagia	HP:0002015
11128	POLR3A	Intellectual disability	HP:0001249
11128	POLR3A	Short stature	HP:0004322
11128	POLR3A	Ataxia	HP:0001251
11128	POLR3A	Lipoatrophy	HP:0100578
11128	POLR3A	Failure to thrive	HP:0001508
11128	POLR3A	Intrauterine growth retardation	HP:0001511
11128	POLR3A	Focal seizures, afebril	HP:0040168
11128	POLR3A	Intellectual disability, mild	HP:0001256
11128	POLR3A	Spasticity	HP:0001257
11128	POLR3A	Deeply set eye	HP:0000490
11128	POLR3A	Dysarthria	HP:0001260
11128	POLR3A	Hypotrichosis	HP:0001006
11128	POLR3A	Global developmental delay	HP:0001263
11128	POLR3A	Parietal bossing	HP:0000242
11128	POLR3A	Cerebellar atrophy	HP:0001272
11128	POLR3A	Congenital onset	HP:0003577
11128	POLR3A	Vertical supranuclear gaze palsy	HP:0000511
2937	GSS	Intention tremor	HP:0002080
2937	GSS	Intellectual disability	HP:0001249
2937	GSS	Psychotic mentation	HP:0001345
2937	GSS	Seizures	HP:0001250
2937	GSS	Ataxia	HP:0001251
2937	GSS	Pigmentary retinopathy	HP:0000580
2937	GSS	Spastic tetraparesis	HP:0001285
2937	GSS	Autosomal recessive inheritance	HP:0000007
2937	GSS	Chronic metabolic acidosis	HP:0001996
2937	GSS	Dysarthria	HP:0001260
2937	GSS	Reduced glutathione synthetase activity	HP:0003343
2937	GSS	Increased level of L-pyroglutamic acid in urine	HP:0410132
2937	GSS	Neutropenia	HP:0001875
2937	GSS	Hemolytic anemia	HP:0001878
2937	GSS	Glyoxalase deficiency	HP:0003258
11133	KPTN	Macrocephaly	HP:0000256
11133	KPTN	Intellectual disability	HP:0001249
11133	KPTN	Seizures	HP:0001250
11133	KPTN	Anxiety	HP:0000739
11133	KPTN	Autosomal recessive inheritance	HP:0000007
11133	KPTN	Broad nasal tip	HP:0000455
11133	KPTN	Generalized hypotonia	HP:0001290
11133	KPTN	Downslanted palpebral fissures	HP:0000494
11133	KPTN	Global developmental delay	HP:0001263
11133	KPTN	Scaphocephaly	HP:0030799
11133	KPTN	Mandibular prognathia	HP:0000303
11133	KPTN	Clinodactyly of the 5th finger	HP:0004209
11133	KPTN	Retrognathia	HP:0000278
11133	KPTN	Frontal bossing	HP:0002007
11133	KPTN	Congenital onset	HP:0003577
11133	KPTN	Stereotypy	HP:0000733
11136	SLC7A9	Hyperlysinuria	HP:0003297
11136	SLC7A9	Renal insufficiency	HP:0000083
11136	SLC7A9	Abnormality of the nervous system	HP:0000707
11136	SLC7A9	Nephrolithiasis	HP:0000787
11136	SLC7A9	Argininuria	HP:0003268
11136	SLC7A9	Variable expressivity	HP:0003828
11136	SLC7A9	Autosomal dominant inheritance	HP:0000006
11136	SLC7A9	Autosomal recessive inheritance	HP:0000007
11136	SLC7A9	Recurrent urinary tract infections	HP:0000010
11136	SLC7A9	Cystinuria	HP:0003131
11136	SLC7A9	Ornithinuria	HP:0003532
166785	MMAA	Hepatomegaly	HP:0002240
166785	MMAA	Hyperammonemia	HP:0001987
166785	MMAA	Autosomal recessive inheritance	HP:0000007
166785	MMAA	Infantile onset	HP:0003593
166785	MMAA	Decreased adenosylcobalamin	HP:0003145
166785	MMAA	Decreased methylmalonyl-CoA mutase activity	HP:0003210
166785	MMAA	Generalized hypotonia	HP:0001290
166785	MMAA	Thrombocytopenia	HP:0001873
166785	MMAA	Neutropenia	HP:0001875
166785	MMAA	Pancytopenia	HP:0001876
166785	MMAA	Metabolic acidosis	HP:0001942
166785	MMAA	Methylmalonic aciduria	HP:0012120
166785	MMAA	Dehydration	HP:0001944
166785	MMAA	Ketosis	HP:0001946
166785	MMAA	Vomiting	HP:0002013
166785	MMAA	Methylmalonic acidemia	HP:0002912
166785	MMAA	Seizures	HP:0001250
166785	MMAA	Failure to thrive	HP:0001508
166785	MMAA	Muscular hypotonia	HP:0001252
166785	MMAA	Lethargy	HP:0001254
166785	MMAA	Ketonuria	HP:0002919
166785	MMAA	Feeding difficulties in infancy	HP:0008872
166785	MMAA	Hyperglycinemia	HP:0002154
166785	MMAA	Coma	HP:0001259
166785	MMAA	Anemia	HP:0001903
166785	MMAA	Global developmental delay	HP:0001263
166785	MMAA	Respiratory distress	HP:0002098
166785	MMAA	Tremor	HP:0001337
11141	IL1RAPL1	Intellectual disability	HP:0001249
11141	IL1RAPL1	Seizures	HP:0001250
11141	IL1RAPL1	Open mouth	HP:0000194
11141	IL1RAPL1	Dental crowding	HP:0000678
11141	IL1RAPL1	Intellectual disability, moderate	HP:0002342
11141	IL1RAPL1	Joint hypermobility	HP:0001382
11141	IL1RAPL1	Upslanted palpebral fissure	HP:0000582
11141	IL1RAPL1	X-linked recessive inheritance	HP:0001419
11141	IL1RAPL1	Autism	HP:0000717
11141	IL1RAPL1	Mandibular prognathia	HP:0000303
11141	IL1RAPL1	Hyperactivity	HP:0000752
11141	IL1RAPL1	Tented upper lip vermilion	HP:0010804
11141	IL1RAPL1	Uplifted earlobe	HP:0009909
11141	IL1RAPL1	Synophrys	HP:0000664
11141	IL1RAPL1	Hypertelorism	HP:0000316
11141	IL1RAPL1	Short nose	HP:0003196
11146	GLMN	Abnormality of metabolism/homeostasis	HP:0001939
11146	GLMN	Autosomal dominant inheritance	HP:0000006
11146	GLMN	Abnormality of the skin	HP:0000951
2956	MSH6	Death in early adulthood	HP:0100613
2956	MSH6	Autosomal dominant inheritance	HP:0000006
2956	MSH6	Ovarian neoplasm	HP:0100615
2956	MSH6	Neoplasm of the rectum	HP:0100743
2956	MSH6	Autosomal recessive inheritance	HP:0000007
2956	MSH6	Gait disturbance	HP:0001288
2956	MSH6	Hypermelanotic macule	HP:0001034
2956	MSH6	Glioblastoma multiforme	HP:0012174
2956	MSH6	Hemiplegia/hemiparesis	HP:0004374
2956	MSH6	Hematological neoplasm	HP:0004377
2956	MSH6	Agnosia	HP:0010524
2956	MSH6	Migraine	HP:0002076
2956	MSH6	Abnormality of abdomen morphology	HP:0001438
2956	MSH6	Dysgraphia	HP:0010526
2956	MSH6	Weight loss	HP:0001824
2956	MSH6	Urinary tract neoplasm	HP:0010786
2956	MSH6	Rhabdomyosarcoma	HP:0002859
2956	MSH6	Memory impairment	HP:0002354
2956	MSH6	Dyskinesia	HP:0100660
2956	MSH6	Breast carcinoma	HP:0003002
2956	MSH6	Colon cancer	HP:0003003
2956	MSH6	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
2956	MSH6	Cafe-au-lait spot	HP:0000957
2956	MSH6	Neuroblastoma	HP:0003006
2956	MSH6	Neoplasm of the thyroid gland	HP:0100031
2956	MSH6	Gastrointestinal hemorrhage	HP:0002239
2956	MSH6	Medulloblastoma	HP:0002885
2956	MSH6	Pancreatic adenocarcinoma	HP:0006725
2956	MSH6	Ependymoma	HP:0002888
2956	MSH6	Developmental regression	HP:0002376
2956	MSH6	Paresthesia	HP:0003401
2956	MSH6	Intestinal polyposis	HP:0200008
2956	MSH6	Depressivity	HP:0000716
2956	MSH6	Salivary gland neoplasm	HP:0100684
2956	MSH6	Pituitary adenoma	HP:0002893
2956	MSH6	Neoplasm of the liver	HP:0002896
2956	MSH6	Endometrial carcinoma	HP:0012114
2956	MSH6	Increased intracranial pressure	HP:0002516
2956	MSH6	Laryngeal carcinoma	HP:0012118
2956	MSH6	Abnormal pyramidal sign	HP:0007256
2956	MSH6	Cardiac diverticulum	HP:0100571
2956	MSH6	Fatigue	HP:0012378
2956	MSH6	Flexion contracture	HP:0001371
2956	MSH6	Neoplasm of the stomach	HP:0006753
2956	MSH6	Nausea and vomiting	HP:0002017
2956	MSH6	Irritability	HP:0000737
2956	MSH6	Amaurosis fugax	HP:0100576
2956	MSH6	Hallucinations	HP:0000738
2956	MSH6	Seizures	HP:0001250
2956	MSH6	Benign neoplasm of the central nervous system	HP:0100835
2956	MSH6	Visual field defect	HP:0001123
2956	MSH6	Anxiety	HP:0000739
2956	MSH6	Constipation	HP:0002019
2956	MSH6	Muscular hypotonia	HP:0001252
2956	MSH6	Axillary freckling	HP:0000997
2956	MSH6	Malignant genitourinary tract tumor	HP:0006758
2956	MSH6	Malabsorption	HP:0002024
2956	MSH6	Lymphoma	HP:0002665
2956	MSH6	Attention deficit hyperactivity disorder	HP:0007018
2956	MSH6	Abdominal pain	HP:0002027
2956	MSH6	Dysarthria	HP:0001260
2956	MSH6	Basal cell carcinoma	HP:0002671
2956	MSH6	Death in infancy	HP:0001522
2956	MSH6	Leukemia	HP:0001909
2956	MSH6	Incomplete penetrance	HP:0003829
2956	MSH6	Astrocytoma	HP:0009592
2956	MSH6	Adenoma sebaceum	HP:0009720
2956	MSH6	Agenesis of corpus callosum	HP:0001274
2956	MSH6	Hepatocellular carcinoma	HP:0001402
2956	MSH6	Hypertonia	HP:0001276
2956	MSH6	Renal neoplasm	HP:0009726
2956	MSH6	Neoplasm of the skeletal system	HP:0010622
84876	ORAI1	Ichthyosis	HP:0008064
84876	ORAI1	Amelogenesis imperfecta	HP:0000705
84876	ORAI1	Muscle spasm	HP:0003394
84876	ORAI1	EMG: myopathic abnormalities	HP:0003458
84876	ORAI1	Foot dorsiflexor weakness	HP:0009027
84876	ORAI1	Abnormality of the musculature	HP:0003011
84876	ORAI1	Autosomal dominant inheritance	HP:0000006
84876	ORAI1	Autosomal recessive inheritance	HP:0000007
84876	ORAI1	Ectodermal dysplasia	HP:0000968
84876	ORAI1	Abnormality of coagulation	HP:0001928
84876	ORAI1	Muscle fiber tubular inclusions	HP:0100301
84876	ORAI1	Abnormal thrombocyte morphology	HP:0001872
84876	ORAI1	Asplenia	HP:0001746
84876	ORAI1	Purpura	HP:0000979
84876	ORAI1	Hypocalcemia	HP:0002901
84876	ORAI1	Areflexia of lower limbs	HP:0002522
84876	ORAI1	Flexion contracture	HP:0001371
84876	ORAI1	High forehead	HP:0000348
84876	ORAI1	Slow progression	HP:0003677
84876	ORAI1	Recurrent infections	HP:0002719
84876	ORAI1	Falls	HP:0002527
84876	ORAI1	Immunodeficiency	HP:0002721
84876	ORAI1	Type 2 muscle fiber atrophy	HP:0003554
84876	ORAI1	Recurrent fever	HP:0001954
84876	ORAI1	Short stature	HP:0004322
84876	ORAI1	Recurrent aphthous stomatitis	HP:0011107
84876	ORAI1	Failure to thrive	HP:0001508
84876	ORAI1	Muscular hypotonia	HP:0001252
84876	ORAI1	Elevated serum creatine kinase	HP:0003236
84876	ORAI1	Increased variability in muscle fiber diameter	HP:0003557
84876	ORAI1	Centrally nucleated skeletal muscle fibers	HP:0003687
84876	ORAI1	Stomatitis	HP:0010280
84876	ORAI1	Miosis	HP:0000616
84876	ORAI1	Spinal rigidity	HP:0003306
84876	ORAI1	Deeply set eye	HP:0000490
84876	ORAI1	Anemia	HP:0001903
84876	ORAI1	Difficulty walking	HP:0002355
84876	ORAI1	Variable expressivity	HP:0003828
84876	ORAI1	Proximal muscle weakness	HP:0003701
84876	ORAI1	Neurological speech impairment	HP:0002167
84876	ORAI1	Fatiguable weakness of proximal limb muscles	HP:0030200
84876	ORAI1	Respiratory insufficiency due to muscle weakness	HP:0002747
84876	ORAI1	Generalized muscle weakness	HP:0003324
84876	ORAI1	Myalgia	HP:0003326
84876	ORAI1	Myopathy	HP:0003198
84876	ORAI1	Heat intolerance	HP:0002046
84876	ORAI1	Gowers sign	HP:0003391
11149	BVES	Elevated serum creatine kinase	HP:0003236
11149	BVES	Proximal muscle weakness	HP:0003701
11149	BVES	Autosomal recessive inheritance	HP:0000007
11149	BVES	Centrally nucleated skeletal muscle fibers	HP:0003687
11149	BVES	Muscular dystrophy	HP:0003560
11149	BVES	Sinus bradycardia	HP:0001688
11149	BVES	Limb muscle weakness	HP:0003690
11149	BVES	Limb-girdle muscle weakness	HP:0003325
11149	BVES	Loss of ability to walk	HP:0006957
11149	BVES	Atrioventricular block	HP:0001678
11149	BVES	Syncope	HP:0001279
84879	MFSD2A	Absent speech	HP:0001344
84879	MFSD2A	Hyperreflexia	HP:0001347
84879	MFSD2A	Spastic tetraparesis	HP:0001285
84879	MFSD2A	Upslanted palpebral fissure	HP:0000582
84879	MFSD2A	Ventriculomegaly	HP:0002119
84879	MFSD2A	Autosomal recessive inheritance	HP:0000007
84879	MFSD2A	Generalized hypotonia	HP:0001290
84879	MFSD2A	Vesicoureteral reflux	HP:0000076
84879	MFSD2A	Spastic gait	HP:0002064
84879	MFSD2A	Sloping forehead	HP:0000340
84879	MFSD2A	Pachygyria	HP:0001302
84879	MFSD2A	Thin upper lip vermilion	HP:0000219
84879	MFSD2A	Progressive	HP:0003676
84879	MFSD2A	Abnormal cortical bone morphology	HP:0003103
84879	MFSD2A	Hypoplasia of the corpus callosum	HP:0002079
84879	MFSD2A	Short stature	HP:0004322
84879	MFSD2A	Talipes equinovarus	HP:0001762
84879	MFSD2A	Seizures	HP:0001250
84879	MFSD2A	Hypoplasia of the frontal lobes	HP:0007333
84879	MFSD2A	Cerebellar hypoplasia	HP:0001321
84879	MFSD2A	Gray matter heterotopia	HP:0002282
84879	MFSD2A	Inability to walk	HP:0002540
84879	MFSD2A	Global developmental delay	HP:0001263
84879	MFSD2A	Intellectual disability, severe	HP:0010864
84879	MFSD2A	Congenital onset	HP:0003577
84879	MFSD2A	Unilateral renal agenesis	HP:0000122
84879	MFSD2A	Agenesis of corpus callosum	HP:0001274
84879	MFSD2A	Microcephaly	HP:0000252
84879	MFSD2A	Progressive microcephaly	HP:0000253
84879	MFSD2A	Hypoplasia of the brainstem	HP:0002365
11151	CORO1A	Hyperactivity	HP:0000752
11151	CORO1A	Lymphopenia	HP:0001888
11151	CORO1A	Immunodeficiency	HP:0002721
11151	CORO1A	Autosomal recessive inheritance	HP:0000007
11151	CORO1A	Infantile onset	HP:0003593
11151	CORO1A	Recurrent respiratory infections	HP:0002205
11151	CORO1A	Global developmental delay	HP:0001263
11152	WDR45	Absent speech	HP:0001344
11152	WDR45	Poor speech	HP:0002465
11152	WDR45	Intellectual disability	HP:0001249
11152	WDR45	Seizures	HP:0001250
11152	WDR45	Neurodegeneration	HP:0002180
11152	WDR45	Iron accumulation in substantia nigra	HP:0012678
11152	WDR45	Frontal release signs	HP:0000743
11152	WDR45	Optic atrophy	HP:0000648
11152	WDR45	Spastic paraparesis	HP:0002313
11152	WDR45	Cerebral atrophy	HP:0002059
11152	WDR45	Abnormal autonomic nervous system physiology	HP:0012332
11152	WDR45	Aggressive behavior	HP:0000718
11152	WDR45	Global developmental delay	HP:0001263
11152	WDR45	Rigidity	HP:0002063
11152	WDR45	X-linked dominant inheritance	HP:0001423
11152	WDR45	Abnormality of eye movement	HP:0000496
11152	WDR45	Progressive encephalopathy	HP:0002448
11152	WDR45	Bradykinesia	HP:0002067
11152	WDR45	Dystonia	HP:0001332
11152	WDR45	Parkinsonism	HP:0001300
11152	WDR45	Dementia	HP:0000726
11152	WDR45	Cerebellar atrophy	HP:0001272
11152	WDR45	Sleep disturbance	HP:0002360
11152	WDR45	Tremor	HP:0001337
2961	GTF2E2	Ichthyosis	HP:0008064
2961	GTF2E2	Pes cavus	HP:0001761
2961	GTF2E2	Short stature	HP:0004322
2961	GTF2E2	Microcornea	HP:0000482
2961	GTF2E2	Intellectual disability, moderate	HP:0002342
2961	GTF2E2	Autosomal recessive inheritance	HP:0000007
2961	GTF2E2	Slow-growing hair	HP:0002217
2961	GTF2E2	Bilateral sensorineural hearing impairment	HP:0008619
2961	GTF2E2	Small for gestational age	HP:0001518
2961	GTF2E2	Coxa valga	HP:0002673
2961	GTF2E2	Mild intrauterine growth retardation	HP:0008883
2961	GTF2E2	Esotropia	HP:0000565
2961	GTF2E2	Motor delay	HP:0001270
2961	GTF2E2	Long-tract signs	HP:0002423
2961	GTF2E2	Coronal craniosynostosis	HP:0004440
2961	GTF2E2	Broad-based gait	HP:0002136
2961	GTF2E2	Brittle hair	HP:0002299
2961	GTF2E2	Microcephaly	HP:0000252
2961	GTF2E2	Delayed skeletal maturation	HP:0002750
2961	GTF2E2	Dry skin	HP:0000958
2961	GTF2E2	Tiger tail banding	HP:0045055
2961	GTF2E2	Nystagmus	HP:0000639
11154	AP4S1	Genu recurvatum	HP:0002816
11154	AP4S1	Drooling	HP:0002307
11154	AP4S1	Amblyopia	HP:0000646
11154	AP4S1	Autosomal recessive inheritance	HP:0000007
11154	AP4S1	Coarse facial features	HP:0000280
11154	AP4S1	Wide mouth	HP:0000154
11154	AP4S1	Bulbous nose	HP:0000414
11154	AP4S1	Overweight	HP:0025502
11154	AP4S1	Babinski sign	HP:0003487
11154	AP4S1	Hypoplasia of the corpus callosum	HP:0002079
11154	AP4S1	Spastic dysarthria	HP:0002464
11154	AP4S1	Poor speech	HP:0002465
11154	AP4S1	Facial hypotonia	HP:0000297
11154	AP4S1	Loss of ability to walk	HP:0006957
11154	AP4S1	Wide nasal bridge	HP:0000431
11154	AP4S1	Difficulty walking	HP:0002355
11154	AP4S1	Everted upper lip vermilion	HP:0010803
11154	AP4S1	Dystonia	HP:0001332
11154	AP4S1	Cerebral palsy	HP:0100021
11154	AP4S1	Thick vermilion border	HP:0012471
11154	AP4S1	Hypertelorism	HP:0000316
11154	AP4S1	Focal-onset seizure	HP:0007359
11154	AP4S1	Prominent nose	HP:0000448
11154	AP4S1	Short philtrum	HP:0000322
11154	AP4S1	Hyperreflexia	HP:0001347
11154	AP4S1	Febrile seizures	HP:0002373
11154	AP4S1	Cerebral cortical atrophy	HP:0002120
11154	AP4S1	Generalized joint laxity	HP:0002761
11154	AP4S1	Waddling gait	HP:0002515
11154	AP4S1	Narrow forehead	HP:0000341
11154	AP4S1	Abnormality of the periventricular white matter	HP:0002518
11154	AP4S1	High palate	HP:0000218
11154	AP4S1	Flexion contracture	HP:0001371
11154	AP4S1	Stereotypy	HP:0000733
11154	AP4S1	Short stature	HP:0004322
11154	AP4S1	Seizures	HP:0001250
11154	AP4S1	Talipes equinovarus	HP:0001762
11154	AP4S1	Pes planus	HP:0001763
11154	AP4S1	Shyness	HP:0100962
11154	AP4S1	Strabismus	HP:0000486
11154	AP4S1	Acetabular dysplasia	HP:0008807
11154	AP4S1	Muscular hypotonia of the trunk	HP:0008936
11154	AP4S1	Spasticity	HP:0001257
11154	AP4S1	Spastic paraplegia	HP:0001258
11154	AP4S1	Progressive spastic paraplegia	HP:0007020
11154	AP4S1	Global developmental delay	HP:0001263
11154	AP4S1	Intellectual disability, severe	HP:0010864
11154	AP4S1	Cerebellar atrophy	HP:0001272
11154	AP4S1	Congenital onset	HP:0003577
11154	AP4S1	Microcephaly	HP:0000252
11155	LDB3	Late onset	HP:0003584
11155	LDB3	EMG abnormality	HP:0003457
11155	LDB3	EMG: myopathic abnormalities	HP:0003458
11155	LDB3	Myofibrillar myopathy	HP:0003715
11155	LDB3	Autosomal dominant inheritance	HP:0000006
11155	LDB3	Abnormality of neutrophils	HP:0001874
11155	LDB3	Ventricular arrhythmia	HP:0004308
11155	LDB3	Palmoplantar keratoderma	HP:0000982
11155	LDB3	Sensorineural hearing impairment	HP:0000407
11155	LDB3	Autophagic vacuoles	HP:0003736
11155	LDB3	Left ventricular noncompaction	HP:0030682
11155	LDB3	Endocardial fibrosis	HP:0006685
11155	LDB3	Congestive heart failure	HP:0001635
11155	LDB3	Lipoatrophy	HP:0100578
11155	LDB3	Muscle fiber splitting	HP:0003555
11155	LDB3	Elevated serum creatine kinase	HP:0003236
11155	LDB3	Cardiomyopathy	HP:0001638
11155	LDB3	Progressive distal muscle weakness	HP:0009063
11155	LDB3	Hyporeflexia of lower limbs	HP:0002600
11155	LDB3	Dilated cardiomyopathy	HP:0001644
11155	LDB3	Sudden cardiac death	HP:0001645
11155	LDB3	Left ventricular hypertrophy	HP:0001712
11155	LDB3	Progressive proximal muscle weakness	HP:0009073
11155	LDB3	EMG: neuropathic changes	HP:0003445
11155	LDB3	Polyneuropathy	HP:0001271
11155	LDB3	Progressive muscle weakness	HP:0003323
11155	LDB3	Myopathy	HP:0003198
11160	ERLIN2	Skeletal muscle atrophy	HP:0003202
11160	ERLIN2	Spastic tetraparesis	HP:0001285
11160	ERLIN2	Autosomal recessive inheritance	HP:0000007
11160	ERLIN2	Gait disturbance	HP:0001288
11160	ERLIN2	Abnormality of the bladder	HP:0000014
11160	ERLIN2	Spastic gait	HP:0002064
11160	ERLIN2	Pseudobulbar behavioral symptoms	HP:0002193
11160	ERLIN2	Delayed gross motor development	HP:0002194
11160	ERLIN2	Toe walking	HP:0040083
11160	ERLIN2	Babinski sign	HP:0003487
11160	ERLIN2	Hypoplasia of the corpus callosum	HP:0002079
11160	ERLIN2	Language impairment	HP:0002463
11160	ERLIN2	Spastic dysarthria	HP:0002464
11160	ERLIN2	Elbow flexion contracture	HP:0002987
11160	ERLIN2	Lower limb muscle weakness	HP:0007340
11160	ERLIN2	Muscle weakness	HP:0001324
11160	ERLIN2	Difficulty walking	HP:0002355
11160	ERLIN2	Difficulty in tongue movements	HP:0000183
11160	ERLIN2	Glabellar reflex	HP:0030904
11160	ERLIN2	Cough	HP:0012735
11160	ERLIN2	Delayed ability to walk	HP:0031936
11160	ERLIN2	Absent speech	HP:0001344
11160	ERLIN2	Ankle contracture	HP:0006466
11160	ERLIN2	Hyperreflexia	HP:0001347
11160	ERLIN2	Loss of speech	HP:0002371
11160	ERLIN2	Flexion contracture of toe	HP:0005830
11160	ERLIN2	Hip contracture	HP:0003273
11160	ERLIN2	Upper limb spasticity	HP:0006986
11160	ERLIN2	Limb hypertonia	HP:0002509
11160	ERLIN2	Aphasia	HP:0002381
11160	ERLIN2	Abnormal upper motor neuron morphology	HP:0002127
11160	ERLIN2	Wrist flexion contracture	HP:0001239
11160	ERLIN2	Abnormal pyramidal sign	HP:0007256
11160	ERLIN2	High palate	HP:0000218
11160	ERLIN2	Scoliosis	HP:0002650
11160	ERLIN2	Narrow maxilla	HP:0002010
11160	ERLIN2	Progressive	HP:0003676
11160	ERLIN2	Slow progression	HP:0003677
11160	ERLIN2	Gait imbalance	HP:0002141
11160	ERLIN2	Dysphagia	HP:0002015
11160	ERLIN2	Pes cavus	HP:0001761
11160	ERLIN2	Intellectual disability	HP:0001249
11160	ERLIN2	Seizures	HP:0001250
11160	ERLIN2	Strabismus	HP:0000486
11160	ERLIN2	Spasticity	HP:0001257
11160	ERLIN2	Spastic paraplegia	HP:0001258
11160	ERLIN2	Knee flexion contracture	HP:0006380
11160	ERLIN2	Abnormality of jaw muscles	HP:0045037
11160	ERLIN2	Pseudobulbar paralysis	HP:0007024
11160	ERLIN2	Abnormality of eye movement	HP:0000496
11160	ERLIN2	Flexion contracture of finger	HP:0012785
11160	ERLIN2	Parietal hypometabolism in FDG PET	HP:0012662
11160	ERLIN2	Kyphosis	HP:0002808
11160	ERLIN2	Sensory neuropathy	HP:0000763
2969	GTF2I	Hypercalcemia	HP:0003072
2969	GTF2I	Umbilical hernia	HP:0001537
2969	GTF2I	Arnold-Chiari malformation	HP:0002308
2969	GTF2I	Death in early adulthood	HP:0100613
2969	GTF2I	Cataract	HP:0000518
2969	GTF2I	Hypoplastic toenails	HP:0001800
2969	GTF2I	Recurrent urinary tract infections	HP:0000010
2969	GTF2I	Arthralgia	HP:0002829
2969	GTF2I	Bladder diverticulum	HP:0000015
2969	GTF2I	Tracheoesophageal fistula	HP:0002575
2969	GTF2I	Stroke	HP:0001297
2969	GTF2I	Nephrolithiasis	HP:0000787
2969	GTF2I	Narrow face	HP:0000275
2969	GTF2I	Corneal opacity	HP:0007957
2969	GTF2I	Inguinal hernia	HP:0000023
2969	GTF2I	Abnormality of extrapyramidal motor function	HP:0002071
2969	GTF2I	Coarse facial features	HP:0000280
2969	GTF2I	Functional abnormality of male internal genitalia	HP:0000025
2969	GTF2I	Nevus flammeus	HP:0001052
2969	GTF2I	Hyperacusis	HP:0010780
2969	GTF2I	Cryptorchidism	HP:0000028
2969	GTF2I	Supravalvular aortic stenosis	HP:0004381
2969	GTF2I	Hallux valgus	HP:0001822
2969	GTF2I	Dysgraphia	HP:0010526
2969	GTF2I	Epicanthus	HP:0000286
2969	GTF2I	Dysmetria	HP:0001310
2969	GTF2I	Hypoplasia of penis	HP:0008736
2969	GTF2I	Myopia	HP:0000545
2969	GTF2I	Flat cornea	HP:0007720
2969	GTF2I	Genu valgum	HP:0002857
2969	GTF2I	Hypogonadotrophic hypogonadism	HP:0000044
2969	GTF2I	Redundant skin	HP:0001582
2969	GTF2I	Peptic ulcer	HP:0004398
2969	GTF2I	Abnormal circulating lipid concentration	HP:0003119
2969	GTF2I	High hypermetropia	HP:0008499
2969	GTF2I	Pointed chin	HP:0000307
2969	GTF2I	Abnormal dermatoglyphics	HP:0007477
2969	GTF2I	Hypothyroidism	HP:0000821
2969	GTF2I	Open bite	HP:0010807
2969	GTF2I	Cholelithiasis	HP:0001081
2969	GTF2I	Tremor	HP:0001337
2969	GTF2I	Precocious puberty	HP:0000826
2969	GTF2I	Joint hyperflexibility	HP:0005692
2969	GTF2I	Overriding aorta	HP:0002623
2969	GTF2I	Hyperreflexia	HP:0001347
2969	GTF2I	Blepharophimosis	HP:0000581
2969	GTF2I	Prematurely aged appearance	HP:0007495
2969	GTF2I	Cerebral cortical atrophy	HP:0002120
2969	GTF2I	Developmental regression	HP:0002376
2969	GTF2I	Hoarse voice	HP:0001609
2969	GTF2I	Renal duplication	HP:0000075
2969	GTF2I	Vesicoureteral reflux	HP:0000076
2969	GTF2I	Elfin facies	HP:0004428
2969	GTF2I	Cerebral ischemia	HP:0002637
2969	GTF2I	Broad forehead	HP:0000337
2969	GTF2I	Nystagmus-induced head nodding	HP:0001361
2969	GTF2I	Dysphonia	HP:0001618
2969	GTF2I	Renal insufficiency	HP:0000083
2969	GTF2I	Abnormality of pelvic girdle bone morphology	HP:0002644
2969	GTF2I	Down-sloping shoulders	HP:0200021
2969	GTF2I	Long philtrum	HP:0000343
2969	GTF2I	Renal hypoplasia	HP:0000089
2969	GTF2I	Scoliosis	HP:0002650
2969	GTF2I	Type II diabetes mellitus	HP:0005978
2969	GTF2I	Micrognathia	HP:0000347
2969	GTF2I	High forehead	HP:0000348
2969	GTF2I	Gait imbalance	HP:0002141
2969	GTF2I	Ventricular septal defect	HP:0001629
2969	GTF2I	Proteinuria	HP:0000093
2969	GTF2I	Vertebral segmentation defect	HP:0003422
2969	GTF2I	Atrial septal defect	HP:0001631
2969	GTF2I	Mitral valve prolapse	HP:0001634
2969	GTF2I	Congestive heart failure	HP:0001635
2969	GTF2I	Tetralogy of Fallot	HP:0001636
2969	GTF2I	Hypercalciuria	HP:0002150
2969	GTF2I	Hypertrophic cardiomyopathy	HP:0001639
2969	GTF2I	Cardiomegaly	HP:0001640
2969	GTF2I	Peripheral pulmonary artery stenosis	HP:0004969
2969	GTF2I	Attention deficit hyperactivity disorder	HP:0007018
2969	GTF2I	Pulmonic stenosis	HP:0001642
2969	GTF2I	Patent ductus arteriosus	HP:0001643
2969	GTF2I	Joint stiffness	HP:0001387
2969	GTF2I	Joint laxity	HP:0001388
2969	GTF2I	Sudden cardiac death	HP:0001645
2969	GTF2I	Bicuspid aortic valve	HP:0001647
2969	GTF2I	Low-set, posteriorly rotated ears	HP:0000368
2969	GTF2I	Retinal arteriolar tortuosity	HP:0001136
2969	GTF2I	Clinodactyly of the 5th finger	HP:0004209
2969	GTF2I	Posterior embryotoxon	HP:0000627
2969	GTF2I	Mitral regurgitation	HP:0001653
2969	GTF2I	Aplasia/Hypoplasia of the iris	HP:0008053
2969	GTF2I	Lacrimation abnormality	HP:0000632
2969	GTF2I	Nephrocalcinosis	HP:0000121
2969	GTF2I	Myocardial infarction	HP:0001658
2969	GTF2I	Blue irides	HP:0000635
2969	GTF2I	Short nose	HP:0003196
2969	GTF2I	Pelvic kidney	HP:0000125
2969	GTF2I	Myopathy	HP:0003198
2969	GTF2I	Increased nuchal translucency	HP:0010880
2969	GTF2I	Chronic otitis media	HP:0000389
2969	GTF2I	Phonophobia	HP:0002183
2969	GTF2I	Macrotia	HP:0000400
2969	GTF2I	Polycystic ovaries	HP:0000147
2969	GTF2I	Sensorineural hearing impairment	HP:0000407
2969	GTF2I	Wide mouth	HP:0000154
2969	GTF2I	Protruding ear	HP:0000411
2969	GTF2I	Hypodontia	HP:0000668
2969	GTF2I	Adducted thumb	HP:0001181
2969	GTF2I	Recurrent respiratory infections	HP:0002205
2969	GTF2I	Macroglossia	HP:0000158
2969	GTF2I	Carious teeth	HP:0000670
2969	GTF2I	Radioulnar synostosis	HP:0002974
2969	GTF2I	Elevated serum creatine kinase	HP:0003236
2969	GTF2I	Abnormality of the diencephalon	HP:0010662
2969	GTF2I	Abnormality of dental enamel	HP:0000682
2969	GTF2I	Osteopenia	HP:0000938
2969	GTF2I	Osteoporosis	HP:0000939
2969	GTF2I	Hypoplasia of the zygomatic bone	HP:0010669
2969	GTF2I	Wide nasal bridge	HP:0000431
2969	GTF2I	Insomnia	HP:0100785
2969	GTF2I	Tubulointerstitial abnormality	HP:0001969
2969	GTF2I	Dental malocclusion	HP:0000689
2969	GTF2I	Microdontia	HP:0000691
2969	GTF2I	Thick lower lip vermilion	HP:0000179
2969	GTF2I	Patellar dislocation	HP:0002999
2969	GTF2I	Overfriendliness	HP:0100025
2969	GTF2I	Periorbital edema	HP:0100539
2969	GTF2I	Multiple renal cysts	HP:0005562
2969	GTF2I	Delayed skeletal maturation	HP:0002750
2969	GTF2I	Sacral dimple	HP:0000960
2969	GTF2I	Abnormality of the gastric mucosa	HP:0004295
2969	GTF2I	Atrophy/Degeneration involving the corticospinal tracts	HP:0007372
2969	GTF2I	Depressivity	HP:0000716
2969	GTF2I	Colonic diverticula	HP:0002253
2969	GTF2I	Autism	HP:0000717
2969	GTF2I	Abnormal fingernail morphology	HP:0001231
2969	GTF2I	Abnormality of the neck	HP:0000464
2969	GTF2I	Renovascular hypertension	HP:0100817
2969	GTF2I	Abnormal endocardium morphology	HP:0004306
2969	GTF2I	Obsessive-compulsive behavior	HP:0000722
2969	GTF2I	Gingival overgrowth	HP:0000212
2969	GTF2I	Abnormality of the ankles	HP:0003028
2969	GTF2I	Urethral stenosis	HP:0008661
2969	GTF2I	Abnormal carotid artery morphology	HP:0005344
2969	GTF2I	Nausea and vomiting	HP:0002017
2969	GTF2I	Intellectual disability	HP:0001249
2969	GTF2I	Spina bifida occulta	HP:0003298
2969	GTF2I	Short stature	HP:0004322
2969	GTF2I	Constipation	HP:0002019
2969	GTF2I	Anxiety	HP:0000739
2969	GTF2I	Pes planus	HP:0001763
2969	GTF2I	Gastroesophageal reflux	HP:0002020
2969	GTF2I	Muscular hypotonia	HP:0001252
2969	GTF2I	Megalocornea	HP:0000485
2969	GTF2I	Strabismus	HP:0000486
2969	GTF2I	Malabsorption	HP:0002024
2969	GTF2I	Everted lower lip vermilion	HP:0000232
2969	GTF2I	Obesity	HP:0001513
2969	GTF2I	Spasticity	HP:0001257
2969	GTF2I	Hyperlordosis	HP:0003307
2969	GTF2I	Abdominal pain	HP:0002027
2969	GTF2I	Dysarthria	HP:0001260
2969	GTF2I	Abnormal form of the vertebral bodies	HP:0003312
2969	GTF2I	Rectal prolapse	HP:0002035
2969	GTF2I	Glaucoma	HP:0000501
2969	GTF2I	Kyphosis	HP:0002808
2969	GTF2I	Aortic arch aneurysm	HP:0005113
2969	GTF2I	Visual impairment	HP:0000505
2969	GTF2I	Increased bone mineral density	HP:0011001
2969	GTF2I	Failure to thrive in infancy	HP:0001531
2969	GTF2I	Microcephaly	HP:0000252
2969	GTF2I	Pectus excavatum	HP:0000767
2972	BRF1	Laryngomalacia	HP:0001601
2972	BRF1	Intellectual disability	HP:0001249
2972	BRF1	Short stature	HP:0004322
2972	BRF1	Macrodontia of permanent maxillary central incisor	HP:0000675
2972	BRF1	Fine hair	HP:0002213
2972	BRF1	Sparse hair	HP:0008070
2972	BRF1	Taurodontia	HP:0000679
2972	BRF1	Autosomal recessive inheritance	HP:0000007
2972	BRF1	Cerebellar hypoplasia	HP:0001321
2972	BRF1	Infantile onset	HP:0003593
2972	BRF1	Hypoplasia of the pons	HP:0012110
2972	BRF1	Laryngeal stridor	HP:0006511
2972	BRF1	Global developmental delay	HP:0001263
2972	BRF1	Dental malocclusion	HP:0000689
2972	BRF1	Low-set ears	HP:0000369
2972	BRF1	Short neck	HP:0000470
2972	BRF1	Sparse and thin eyebrow	HP:0000535
2972	BRF1	Scoliosis	HP:0002650
2972	BRF1	Slender long bone	HP:0003100
2972	BRF1	Microcephaly	HP:0000252
2972	BRF1	Tapered finger	HP:0001182
84892	POMGNT2	Macrocephaly	HP:0000256
84892	POMGNT2	Skeletal muscle atrophy	HP:0003202
84892	POMGNT2	Areflexia	HP:0001284
84892	POMGNT2	Cataract	HP:0000518
84892	POMGNT2	Autosomal recessive inheritance	HP:0000007
84892	POMGNT2	Optic atrophy	HP:0000648
84892	POMGNT2	Generalized hypotonia	HP:0001290
84892	POMGNT2	Metatarsus valgus	HP:0010508
84892	POMGNT2	Anophthalmia	HP:0000528
84892	POMGNT2	Abnormal circulating creatine kinase concentration	HP:0040081
84892	POMGNT2	Corneal opacity	HP:0007957
84892	POMGNT2	Calf muscle hypertrophy	HP:0008981
84892	POMGNT2	Pachygyria	HP:0001302
84892	POMGNT2	Dandy-Walker malformation	HP:0001305
84892	POMGNT2	Protruding ear	HP:0000411
84892	POMGNT2	Cryptorchidism	HP:0000028
84892	POMGNT2	Retinal detachment	HP:0000541
84892	POMGNT2	Hypoplasia of penis	HP:0008736
84892	POMGNT2	Retinal dysplasia	HP:0007973
84892	POMGNT2	Cerebellar hypoplasia	HP:0001321
84892	POMGNT2	Retinal dystrophy	HP:0000556
84892	POMGNT2	Muscle weakness	HP:0001324
84892	POMGNT2	Specific learning disability	HP:0001328
84892	POMGNT2	Submucous cleft hard palate	HP:0000176
84892	POMGNT2	Absent septum pellucidum	HP:0001331
84892	POMGNT2	Chorioretinal dysplasia	HP:0007731
84892	POMGNT2	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
84892	POMGNT2	Microphthalmia	HP:0000568
84892	POMGNT2	Macrogyria	HP:0007227
84892	POMGNT2	Gowers sign	HP:0003391
84892	POMGNT2	Bifid uvula	HP:0000193
84892	POMGNT2	Ventriculomegaly	HP:0002119
84892	POMGNT2	Polymicrogyria	HP:0002126
84892	POMGNT2	Type II lissencephaly	HP:0007260
84892	POMGNT2	Intellectual disability	HP:0001249
84892	POMGNT2	Seizures	HP:0001250
84892	POMGNT2	Microcornea	HP:0000482
84892	POMGNT2	Iris coloboma	HP:0000612
84892	POMGNT2	Muscular hypotonia	HP:0001252
84892	POMGNT2	Posteriorly rotated ears	HP:0000358
84892	POMGNT2	Muscular dystrophy	HP:0003560
84892	POMGNT2	Hydrocephalus	HP:0000238
84892	POMGNT2	Delayed speech and language development	HP:0000750
84892	POMGNT2	Global developmental delay	HP:0001263
84892	POMGNT2	Abnormal aldolase level	HP:0012400
84892	POMGNT2	Abnormal lactate dehydrogenase activity	HP:0045040
84892	POMGNT2	Low-set ears	HP:0000369
84892	POMGNT2	Hyporeflexia	HP:0001265
84892	POMGNT2	Glaucoma	HP:0000501
84892	POMGNT2	Motor delay	HP:0001270
84892	POMGNT2	Agenesis of corpus callosum	HP:0001274
84892	POMGNT2	Microcephaly	HP:0000252
84894	LINGO1	Feeding difficulties	HP:0011968
84894	LINGO1	Absent speech	HP:0001344
84894	LINGO1	Intellectual disability	HP:0001249
84894	LINGO1	Seizures	HP:0001250
84894	LINGO1	Autosomal recessive inheritance	HP:0000007
84894	LINGO1	Spasticity	HP:0001257
84894	LINGO1	Global developmental delay	HP:0001263
84894	LINGO1	Dysphagia	HP:0002015
84896	ATAD1	Umbilical hernia	HP:0001537
84896	ATAD1	Hyperreflexia	HP:0001347
84896	ATAD1	Autosomal recessive inheritance	HP:0000007
84896	ATAD1	Gait disturbance	HP:0001288
84896	ATAD1	Hip dislocation	HP:0002827
84896	ATAD1	Cerebral atrophy	HP:0002059
84896	ATAD1	Fasciculations	HP:0002380
84896	ATAD1	Rigidity	HP:0002063
84896	ATAD1	Encephalopathy	HP:0001298
84896	ATAD1	Inguinal hernia	HP:0000023
84896	ATAD1	Esophagitis	HP:0100633
84896	ATAD1	Hypsarrhythmia	HP:0002521
84896	ATAD1	Progressive	HP:0003676
84896	ATAD1	Adducted thumb	HP:0001181
84896	ATAD1	Muscle stiffness	HP:0003552
84896	ATAD1	Intellectual disability	HP:0001249
84896	ATAD1	Camptodactyly	HP:0012385
84896	ATAD1	Seizures	HP:0001250
84896	ATAD1	Ataxia	HP:0001251
84896	ATAD1	Gastroesophageal reflux	HP:0002020
84896	ATAD1	Spasticity	HP:0001257
84896	ATAD1	Joint stiffness	HP:0001387
84896	ATAD1	Global developmental delay	HP:0001263
84896	ATAD1	Hiatus hernia	HP:0002036
84896	ATAD1	Distal arthrogryposis	HP:0005684
84896	ATAD1	Myoclonus	HP:0001336
84896	ATAD1	Sleep disturbance	HP:0002360
84896	ATAD1	Congenital onset	HP:0003577
84896	ATAD1	Hypertonia	HP:0001276
84896	ATAD1	Respiratory failure	HP:0002878
2978	GUCA1A	Abnormal electroretinogram	HP:0000512
2978	GUCA1A	Progressive visual loss	HP:0000529
2978	GUCA1A	Cone/cone-rod dystrophy	HP:0000548
2978	GUCA1A	Photophobia	HP:0000613
2978	GUCA1A	Nyctalopia	HP:0000662
2978	GUCA1A	Autosomal dominant inheritance	HP:0000006
2978	GUCA1A	Abnormality of retinal pigmentation	HP:0007703
2978	GUCA1A	Color vision defect	HP:0000551
2978	GUCA1A	Visual impairment	HP:0000505
2978	GUCA1A	Macular atrophy	HP:0007401
2978	GUCA1A	Reduced visual acuity	HP:0007663
2979	GUCA1B	Abnormal electroretinogram	HP:0000512
2979	GUCA1B	Hyperreflexia	HP:0001347
2979	GUCA1B	Cataract	HP:0000518
2979	GUCA1B	Autosomal dominant inheritance	HP:0000006
2979	GUCA1B	Hypogonadism	HP:0000135
2979	GUCA1B	Optic atrophy	HP:0000648
2979	GUCA1B	Hyperinsulinemia	HP:0000842
2979	GUCA1B	Anteverted nares	HP:0000463
2979	GUCA1B	Conductive hearing impairment	HP:0000405
2979	GUCA1B	Sensorineural hearing impairment	HP:0000407
2979	GUCA1B	Abnormality of retinal pigmentation	HP:0007703
2979	GUCA1B	Ophthalmoplegia	HP:0000602
2979	GUCA1B	Type II diabetes mellitus	HP:0005978
2979	GUCA1B	Atypical scarring of skin	HP:0000987
2979	GUCA1B	Hypoplasia of penis	HP:0008736
2979	GUCA1B	Intellectual disability	HP:0001249
2979	GUCA1B	Abnormal testis morphology	HP:0000035
2979	GUCA1B	Photophobia	HP:0000613
2979	GUCA1B	Obesity	HP:0001513
2979	GUCA1B	Blindness	HP:0000618
2979	GUCA1B	Abnormal retinal vascular morphology	HP:0008046
2979	GUCA1B	Wide nasal bridge	HP:0000431
2979	GUCA1B	Keratoconus	HP:0000563
2979	GUCA1B	Glaucoma	HP:0000501
2979	GUCA1B	Visual impairment	HP:0000505
2979	GUCA1B	Progressive night blindness	HP:0007675
2979	GUCA1B	Rod-cone dystrophy	HP:0000510
2979	GUCA1B	Nystagmus	HP:0000639
2982	GUCY1A1	Raynaud phenomenon	HP:0030880
2982	GUCY1A1	Abnormal platelet aggregation	HP:0030402
2982	GUCY1A1	Impotence	HP:0000802
2982	GUCY1A1	Seizures	HP:0001250
2982	GUCY1A1	Cutis marmorata	HP:0000965
2982	GUCY1A1	Autosomal recessive inheritance	HP:0000007
2982	GUCY1A1	Achalasia	HP:0002571
2982	GUCY1A1	Stroke	HP:0001297
2982	GUCY1A1	Thrombocytopenia	HP:0001873
2982	GUCY1A1	Variable expressivity	HP:0003828
2982	GUCY1A1	Hemiparesis	HP:0001269
2982	GUCY1A1	Hypertension	HP:0000822
2982	GUCY1A1	Moyamoya phenomenon	HP:0011834
2982	GUCY1A1	Ischemic stroke	HP:0002140
2982	GUCY1A1	Dysphagia	HP:0002015
2984	GUCY2C	Meconium ileus	HP:0004401
2984	GUCY2C	Microcolon	HP:0004388
2984	GUCY2C	Autosomal dominant inheritance	HP:0000006
2984	GUCY2C	Autosomal recessive inheritance	HP:0000007
2984	GUCY2C	Vitamin B12 deficiency	HP:0100502
2984	GUCY2C	Abdominal pain	HP:0002027
2984	GUCY2C	Diarrhea	HP:0002014
84905	ZNF341	Abnormality of the dentition	HP:0000164
84905	ZNF341	Joint hypermobility	HP:0001382
84905	ZNF341	Atopic dermatitis	HP:0001047
84905	ZNF341	Chronic mucocutaneous candidiasis	HP:0002728
84905	ZNF341	Eosinophilia	HP:0001880
84905	ZNF341	High palate	HP:0000218
84905	ZNF341	Micrognathia	HP:0000347
84905	ZNF341	Pruritus	HP:0000989
11178	LZTS1	Somatic mutation	HP:0001428
11178	LZTS1	Autosomal dominant inheritance	HP:0000006
11178	LZTS1	Squamous cell carcinoma	HP:0002860
101928376	IL12A-AS1	Abnormal blistering of the skin	HP:0008066
101928376	IL12A-AS1	Avascular necrosis	HP:0010885
101928376	IL12A-AS1	Cataract	HP:0000518
101928376	IL12A-AS1	Myositis	HP:0100614
101928376	IL12A-AS1	Meningitis	HP:0001287
101928376	IL12A-AS1	Gait disturbance	HP:0001288
101928376	IL12A-AS1	Confusion	HP:0001289
101928376	IL12A-AS1	Arthralgia	HP:0002829
101928376	IL12A-AS1	Vertigo	HP:0002321
101928376	IL12A-AS1	Gangrene	HP:0100758
101928376	IL12A-AS1	Fever	HP:0001945
101928376	IL12A-AS1	Pleural effusion	HP:0002202
101928376	IL12A-AS1	Oral ulcer	HP:0000155
101928376	IL12A-AS1	Lymphadenopathy	HP:0002716
101928376	IL12A-AS1	Pulmonary embolism	HP:0002204
101928376	IL12A-AS1	Migraine	HP:0002076
101928376	IL12A-AS1	Weight loss	HP:0001824
101928376	IL12A-AS1	Acne	HP:0001061
101928376	IL12A-AS1	Pericarditis	HP:0001701
101928376	IL12A-AS1	Cranial nerve paralysis	HP:0006824
101928376	IL12A-AS1	Retrobulbar optic neuritis	HP:0100654
101928376	IL12A-AS1	Memory impairment	HP:0002354
101928376	IL12A-AS1	Pleuritis	HP:0002102
101928376	IL12A-AS1	Hemoptysis	HP:0002105
101928376	IL12A-AS1	Orchitis	HP:0100796
101928376	IL12A-AS1	Gastrointestinal hemorrhage	HP:0002239
101928376	IL12A-AS1	Pulmonary infiltrates	HP:0002113
101928376	IL12A-AS1	Hyperreflexia	HP:0001347
101928376	IL12A-AS1	Arterial thrombosis	HP:0004420
101928376	IL12A-AS1	Pancreatitis	HP:0001733
101928376	IL12A-AS1	Venous thrombosis	HP:0004936
101928376	IL12A-AS1	Developmental regression	HP:0002376
101928376	IL12A-AS1	Vasculitis	HP:0002633
101928376	IL12A-AS1	Paresthesia	HP:0003401
101928376	IL12A-AS1	Keratoconjunctivitis sicca	HP:0001097
101928376	IL12A-AS1	Subcutaneous nodule	HP:0001482
101928376	IL12A-AS1	Cerebral ischemia	HP:0002637
101928376	IL12A-AS1	Encephalitis	HP:0002383
101928376	IL12A-AS1	Splenomegaly	HP:0001744
101928376	IL12A-AS1	Renal insufficiency	HP:0000083
101928376	IL12A-AS1	Increased intracranial pressure	HP:0002516
101928376	IL12A-AS1	Glomerulopathy	HP:0100820
101928376	IL12A-AS1	Abnormal pyramidal sign	HP:0007256
101928376	IL12A-AS1	Arthritis	HP:0001369
101928376	IL12A-AS1	Fatigue	HP:0012378
101928376	IL12A-AS1	Irritability	HP:0000737
101928376	IL12A-AS1	Nausea and vomiting	HP:0002017
101928376	IL12A-AS1	Papule	HP:0200034
101928376	IL12A-AS1	Seizures	HP:0001250
101928376	IL12A-AS1	Recurrent aphthous stomatitis	HP:0011107
101928376	IL12A-AS1	Ataxia	HP:0001251
101928376	IL12A-AS1	Abnormal myocardium morphology	HP:0001637
101928376	IL12A-AS1	Photophobia	HP:0000613
101928376	IL12A-AS1	Immunologic hypersensitivity	HP:0100326
101928376	IL12A-AS1	Malabsorption	HP:0002024
101928376	IL12A-AS1	Retinopathy	HP:0000488
101928376	IL12A-AS1	Endocarditis	HP:0100584
101928376	IL12A-AS1	Blindness	HP:0000618
101928376	IL12A-AS1	Abdominal pain	HP:0002027
101928376	IL12A-AS1	Mitral regurgitation	HP:0001653
101928376	IL12A-AS1	Hemiparesis	HP:0001269
101928376	IL12A-AS1	Anorexia	HP:0002039
101928376	IL12A-AS1	Myocardial infarction	HP:0001658
101928376	IL12A-AS1	Aortic regurgitation	HP:0001659
101928376	IL12A-AS1	Myalgia	HP:0003326
11181	TREH	Autosomal recessive inheritance	HP:0000007
11181	TREH	Abdominal pain	HP:0002027
11181	TREH	Diarrhea	HP:0002014
2990	GUSB	Macrocephaly	HP:0000256
2990	GUSB	Pectus carinatum	HP:0000768
2990	GUSB	Umbilical hernia	HP:0001537
2990	GUSB	Neurodegeneration	HP:0002180
2990	GUSB	Ascites	HP:0001541
2990	GUSB	Autosomal recessive inheritance	HP:0000007
2990	GUSB	Enlarged thorax	HP:0100625
2990	GUSB	Corneal opacity	HP:0007957
2990	GUSB	Inguinal hernia	HP:0000023
2990	GUSB	Coarse facial features	HP:0000280
2990	GUSB	Diaphyseal thickening	HP:0005019
2990	GUSB	Recurrent respiratory infections	HP:0002205
2990	GUSB	Platyspondyly	HP:0000926
2990	GUSB	Epiphyseal stippling	HP:0010655
2990	GUSB	Poor speech	HP:0002465
2990	GUSB	Genu valgum	HP:0002857
2990	GUSB	Narrow greater sacrosciatic notches	HP:0003375
2990	GUSB	Dysostosis multiplex	HP:0000943
2990	GUSB	Widely spaced teeth	HP:0000687
2990	GUSB	Metatarsus adductus	HP:0001840
2990	GUSB	Abnormality of the pleura	HP:0002103
2990	GUSB	Arteriovenous malformation	HP:0100026
2990	GUSB	Thick eyebrow	HP:0000574
2990	GUSB	Hepatomegaly	HP:0002240
2990	GUSB	Decreased pulmonary function	HP:0005952
2990	GUSB	Postnatal growth retardation	HP:0008897
2990	GUSB	Abnormality of the hip bone	HP:0003272
2990	GUSB	Splenomegaly	HP:0001744
2990	GUSB	Flat face	HP:0012368
2990	GUSB	Hepatitis	HP:0012115
2990	GUSB	Gingival overgrowth	HP:0000212
2990	GUSB	Short neck	HP:0000470
2990	GUSB	Scoliosis	HP:0002650
2990	GUSB	Mucopolysacchariduria	HP:0008155
2990	GUSB	Flexion contracture	HP:0001371
2990	GUSB	Intellectual disability	HP:0001249
2990	GUSB	Talipes equinovarus	HP:0001762
2990	GUSB	Short stature	HP:0004322
2990	GUSB	Muscular hypotonia	HP:0001252
2990	GUSB	Recurrent upper respiratory tract infections	HP:0002788
2990	GUSB	Cardiomyopathy	HP:0001638
2990	GUSB	Proximal tapering of metacarpals	HP:0006119
2990	GUSB	Acetabular dysplasia	HP:0008807
2990	GUSB	Joint stiffness	HP:0001387
2990	GUSB	Lymphedema	HP:0001004
2990	GUSB	Dermatan sulfate excretion in urine	HP:0008301
2990	GUSB	Hearing impairment	HP:0000365
2990	GUSB	Anterior beaking of lumbar vertebrae	HP:0008430
2990	GUSB	Hydrocephalus	HP:0000238
2990	GUSB	Heparan sulfate excretion in urine	HP:0002159
2990	GUSB	Hirsutism	HP:0001007
2990	GUSB	Hypoplasia of the odontoid process	HP:0003311
2990	GUSB	Thoracolumbar kyphosis	HP:0005619
2990	GUSB	Abnormal heart valve morphology	HP:0001654
2990	GUSB	J-shaped sella turcica	HP:0002680
2990	GUSB	Hydrops fetalis	HP:0001789
2990	GUSB	Anterior beaking of lower thoracic vertebrae	HP:0004607
2992	GYG1	Right bundle branch block	HP:0011712
2992	GYG1	Skeletal muscle atrophy	HP:0003202
2992	GYG1	EMG: myopathic abnormalities	HP:0003458
2992	GYG1	Foot dorsiflexor weakness	HP:0009027
2992	GYG1	Autosomal recessive inheritance	HP:0000007
2992	GYG1	Neck flexor weakness	HP:0003722
2992	GYG1	Increased mitochondrial number	HP:0040014
2992	GYG1	Vertigo	HP:0002321
2992	GYG1	Ventricular tachycardia	HP:0004756
2992	GYG1	Ventricular arrhythmia	HP:0004308
2992	GYG1	Cardiomyocyte hypertrophy	HP:0031319
2992	GYG1	Ventricular septal hypertrophy	HP:0005144
2992	GYG1	Shoulder girdle muscle weakness	HP:0003547
2992	GYG1	ST segment elevation	HP:0012251
2992	GYG1	Distal muscle weakness	HP:0002460
2992	GYG1	Upper limb muscle weakness	HP:0003484
2992	GYG1	Slow progression	HP:0003677
2992	GYG1	Cardiomyopathy	HP:0001638
2992	GYG1	Palpitations	HP:0001962
2992	GYG1	Muscle weakness	HP:0001324
2992	GYG1	Decreased muscle glycogen content	HP:0012270
2992	GYG1	Ventricular hypertrophy	HP:0001714
2992	GYG1	Difficulty walking	HP:0002355
2992	GYG1	Variable expressivity	HP:0003828
2992	GYG1	T-wave inversion	HP:0010872
2992	GYG1	Exertional dyspnea	HP:0002875
2992	GYG1	Limb-girdle muscle weakness	HP:0003325
2992	GYG1	Ventricular fibrillation	HP:0001663
2992	GYG1	Decreased muscle mass	HP:0003199
2992	GYG1	Abdominal wall muscle weakness	HP:0009023
2997	GYS1	Left ventricular hypertrophy	HP:0001712
2997	GYS1	Stroke	HP:0001297
2997	GYS1	Generalized tonic-clonic seizures	HP:0002069
2997	GYS1	Cardiomyopathy	HP:0001638
2997	GYS1	Autosomal recessive inheritance	HP:0000007
2997	GYS1	Exercise intolerance	HP:0003546
2997	GYS1	Decreased muscle glycogen content	HP:0012270
2997	GYS1	Left atrial enlargement	HP:0031295
494513	PJVK	Sensorineural hearing impairment	HP:0000407
494513	PJVK	Autosomal recessive inheritance	HP:0000007
2998	GYS2	Irritability	HP:0000737
2998	GYS2	Seizures	HP:0001250
2998	GYS2	Short stature	HP:0004322
2998	GYS2	Failure to thrive	HP:0001508
2998	GYS2	Glycosuria	HP:0003076
2998	GYS2	Hyperlipidemia	HP:0003077
2998	GYS2	Lethargy	HP:0001254
2998	GYS2	Ketonuria	HP:0002919
2998	GYS2	Autosomal recessive inheritance	HP:0000007
2998	GYS2	Increased serum lactate	HP:0002151
2998	GYS2	Neonatal hypoglycemia	HP:0001998
2998	GYS2	Global developmental delay	HP:0001263
2998	GYS2	Abnormality of the gastrointestinal tract	HP:0011024
2998	GYS2	Ketosis	HP:0001946
2998	GYS2	Fasting hypoglycemia	HP:0003162
2998	GYS2	Elevated hepatic transaminase	HP:0002910
2998	GYS2	Ketotic hypoglycemia	HP:0012734
2998	GYS2	Postprandial hyperglycemia	HP:0011998
84919	PPP1R15B	Recurrent hypoglycemia	HP:0001988
84919	PPP1R15B	Brisk reflexes	HP:0001348
84919	PPP1R15B	Sparse hair	HP:0008070
84919	PPP1R15B	Autosomal recessive inheritance	HP:0000007
84919	PPP1R15B	Abnormal vertebral morphology	HP:0003468
84919	PPP1R15B	Macrotia	HP:0000400
84919	PPP1R15B	Blue sclerae	HP:0000592
84919	PPP1R15B	Gait ataxia	HP:0002066
84919	PPP1R15B	High pitched voice	HP:0001620
84919	PPP1R15B	Down-sloping shoulders	HP:0200021
84919	PPP1R15B	Sensorineural hearing impairment	HP:0000407
84919	PPP1R15B	Hypotelorism	HP:0000601
84919	PPP1R15B	Renal hypoplasia	HP:0000089
84919	PPP1R15B	Increased vertebral height	HP:0004570
84919	PPP1R15B	Downturned corners of mouth	HP:0002714
84919	PPP1R15B	Micrognathia	HP:0000347
84919	PPP1R15B	Cryptorchidism	HP:0000028
84919	PPP1R15B	Epicanthus	HP:0000286
84919	PPP1R15B	Truncal ataxia	HP:0002078
84919	PPP1R15B	Hypoplasia of the corpus callosum	HP:0002079
84919	PPP1R15B	Delayed myelination	HP:0012448
84919	PPP1R15B	Narrow mouth	HP:0000160
84919	PPP1R15B	Seizures	HP:0001250
84919	PPP1R15B	Short stature	HP:0004322
84919	PPP1R15B	Full cheeks	HP:0000293
84919	PPP1R15B	Oligodontia	HP:0000677
84919	PPP1R15B	Fine hair	HP:0002213
84919	PPP1R15B	Intrauterine growth retardation	HP:0001511
84919	PPP1R15B	Spasticity	HP:0001257
84919	PPP1R15B	Kinetic tremor	HP:0030186
84919	PPP1R15B	Hyperlordosis	HP:0003307
84919	PPP1R15B	Dysarthria	HP:0001260
84919	PPP1R15B	Hearing impairment	HP:0000365
84919	PPP1R15B	Downslanted palpebral fissures	HP:0000494
84919	PPP1R15B	Small for gestational age	HP:0001518
84919	PPP1R15B	Intellectual disability, severe	HP:0010864
84919	PPP1R15B	Hypothyroidism	HP:0000821
84919	PPP1R15B	Prominent superficial veins	HP:0001015
84919	PPP1R15B	Delayed puberty	HP:0000823
84919	PPP1R15B	Microcephaly	HP:0000252
84919	PPP1R15B	Hypoplasia of the brainstem	HP:0002365
84919	PPP1R15B	Delayed skeletal maturation	HP:0002750
84919	PPP1R15B	Kyphoscoliosis	HP:0002751
84919	PPP1R15B	Pectus excavatum	HP:0000767
3000	GUCY2D	Abnormal electroretinogram	HP:0000512
3000	GUCY2D	Hepatomegaly	HP:0002240
3000	GUCY2D	Pigmentary retinopathy	HP:0000580
3000	GUCY2D	Cataract	HP:0000518
3000	GUCY2D	Autosomal dominant inheritance	HP:0000006
3000	GUCY2D	Autosomal recessive inheritance	HP:0000007
3000	GUCY2D	Childhood onset	HP:0011463
3000	GUCY2D	Eye poking	HP:0001483
3000	GUCY2D	Fundus atrophy	HP:0001099
3000	GUCY2D	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
3000	GUCY2D	Hemeralopia	HP:0012047
3000	GUCY2D	Nyctalopia	HP:0000662
3000	GUCY2D	Hemiplegia/hemiparesis	HP:0004374
3000	GUCY2D	Abnormality of retinal pigmentation	HP:0007703
3000	GUCY2D	Sensorineural hearing impairment	HP:0000407
3000	GUCY2D	Hyperthreoninemia	HP:0003354
3000	GUCY2D	Choriocapillaris atrophy	HP:0030491
3000	GUCY2D	Abnormality of neuronal migration	HP:0002269
3000	GUCY2D	Hyperthreoninuria	HP:0003296
3000	GUCY2D	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
3000	GUCY2D	Intellectual disability	HP:0001249
3000	GUCY2D	Seizures	HP:0001250
3000	GUCY2D	Encephalocele	HP:0002084
3000	GUCY2D	Muscular hypotonia	HP:0001252
3000	GUCY2D	Cone/cone-rod dystrophy	HP:0000548
3000	GUCY2D	Photophobia	HP:0000613
3000	GUCY2D	Growth delay	HP:0001510
3000	GUCY2D	Color vision defect	HP:0000551
3000	GUCY2D	Macular atrophy	HP:0007401
3000	GUCY2D	Blindness	HP:0000618
3000	GUCY2D	Hearing impairment	HP:0000365
3000	GUCY2D	Global developmental delay	HP:0001263
3000	GUCY2D	Reduced visual acuity	HP:0007663
3000	GUCY2D	Keratoconus	HP:0000563
3000	GUCY2D	Severely reduced visual acuity	HP:0001141
3000	GUCY2D	Age-dependent penetrance	HP:0003831
3000	GUCY2D	Visual impairment	HP:0000505
3000	GUCY2D	Peripheral visual field loss	HP:0007994
3000	GUCY2D	Abnormality of the optic disc	HP:0012795
3000	GUCY2D	Progressive night blindness	HP:0007675
3000	GUCY2D	Nystagmus	HP:0000639
84925	SLC49A4	Renal cell carcinoma	HP:0005584
84925	SLC49A4	Sporadic	HP:0003745
11200	CHEK2	Pathologic fracture	HP:0002756
11200	CHEK2	Neoplasm of the skin	HP:0008069
11200	CHEK2	Glioma	HP:0009733
11200	CHEK2	Ovarian neoplasm	HP:0100615
11200	CHEK2	Primary peritoneal carcinoma	HP:0030406
11200	CHEK2	Autosomal dominant inheritance	HP:0000006
11200	CHEK2	Autosomal recessive inheritance	HP:0000007
11200	CHEK2	Neoplasm of the pancreas	HP:0002894
11200	CHEK2	Progressive encephalopathy	HP:0002448
11200	CHEK2	Abnormality of the fallopian tube	HP:0011027
11200	CHEK2	Abnormality of metabolism/homeostasis	HP:0001939
11200	CHEK2	Sarcoma	HP:0100242
11200	CHEK2	Elevated alkaline phosphatase	HP:0003155
11200	CHEK2	Neoplasm of the nervous system	HP:0004375
11200	CHEK2	Fever	HP:0001945
11200	CHEK2	Abnormality of the femoral metaphysis	HP:0006489
11200	CHEK2	Increased lactate dehydrogenase activity	HP:0025435
11200	CHEK2	Abnormality of the tibial metaphysis	HP:0006491
11200	CHEK2	Prostate cancer	HP:0012125
11200	CHEK2	Stomach cancer	HP:0012126
11200	CHEK2	Neoplasm of the adrenal cortex	HP:0100641
11200	CHEK2	Weight loss	HP:0001824
11200	CHEK2	Lymphoma	HP:0002665
11200	CHEK2	Meningioma	HP:0002858
11200	CHEK2	Joint swelling	HP:0001386
11200	CHEK2	Osteosarcoma	HP:0002669
11200	CHEK2	Melanoma	HP:0002861
11200	CHEK2	Osteolysis	HP:0002797
11200	CHEK2	Neoplasm of the colon	HP:0100273
11200	CHEK2	Pain	HP:0012531
11200	CHEK2	Breast carcinoma	HP:0003002
11200	CHEK2	Retinoblastoma	HP:0009919
3008	HIST1H1E	Macrocephaly	HP:0000256
3008	HIST1H1E	Intellectual disability	HP:0001249
3008	HIST1H1E	Camptodactyly	HP:0012385
3008	HIST1H1E	Talipes equinovarus	HP:0001762
3008	HIST1H1E	Astigmatism	HP:0000483
3008	HIST1H1E	Full cheeks	HP:0000293
3008	HIST1H1E	Amblyopia	HP:0000646
3008	HIST1H1E	Strabismus	HP:0000486
3008	HIST1H1E	Autosomal dominant inheritance	HP:0000006
3008	HIST1H1E	Neonatal hypotonia	HP:0001319
3008	HIST1H1E	Global developmental delay	HP:0001263
3008	HIST1H1E	Accelerated skeletal maturation	HP:0005616
3008	HIST1H1E	Nevus	HP:0003764
3008	HIST1H1E	Telecanthus	HP:0000506
3008	HIST1H1E	Hypertonia	HP:0001276
3008	HIST1H1E	Kyphoscoliosis	HP:0002751
150468	CKAP2L	Small nail	HP:0001792
150468	CKAP2L	Aplastic/hypoplastic toenail	HP:0010624
150468	CKAP2L	Sparse hair	HP:0008070
150468	CKAP2L	Autosomal recessive inheritance	HP:0000007
150468	CKAP2L	Proptosis	HP:0000520
150468	CKAP2L	Optic atrophy	HP:0000648
150468	CKAP2L	Broad columella	HP:0010761
150468	CKAP2L	Limb dystonia	HP:0002451
150468	CKAP2L	Cryptorchidism	HP:0000028
150468	CKAP2L	Hypodontia	HP:0000668
150468	CKAP2L	Echolalia	HP:0010529
150468	CKAP2L	Low hanging columella	HP:0009765
150468	CKAP2L	Prominent nasal bridge	HP:0000426
150468	CKAP2L	Underdeveloped nasal alae	HP:0000430
150468	CKAP2L	Bilateral single transverse palmar creases	HP:0007598
150468	CKAP2L	Wide nasal bridge	HP:0000431
150468	CKAP2L	Specific learning disability	HP:0001328
150468	CKAP2L	Microdontia	HP:0000691
150468	CKAP2L	Dystonia	HP:0001332
150468	CKAP2L	Cutaneous syndactyly	HP:0012725
150468	CKAP2L	Dysphasia	HP:0002357
150468	CKAP2L	Paraplegia	HP:0010550
150468	CKAP2L	Severe short stature	HP:0003510
150468	CKAP2L	Single transverse palmar crease	HP:0000954
150468	CKAP2L	Wide nose	HP:0000445
150468	CKAP2L	Ambiguous genitalia	HP:0000062
150468	CKAP2L	Delayed skeletal maturation	HP:0002750
150468	CKAP2L	Postnatal growth retardation	HP:0008897
150468	CKAP2L	Short philtrum	HP:0000322
150468	CKAP2L	Frontal hirsutism	HP:0011335
150468	CKAP2L	Clinodactyly of the 5th toe	HP:0001864
150468	CKAP2L	Aphasia	HP:0002381
150468	CKAP2L	Broad forehead	HP:0000337
150468	CKAP2L	Finger clinodactyly	HP:0040019
150468	CKAP2L	Enlarged epiphyses	HP:0010580
150468	CKAP2L	Prominent forehead	HP:0011220
150468	CKAP2L	Finger syndactyly	HP:0006101
150468	CKAP2L	Frontal bossing	HP:0002007
150468	CKAP2L	2-4 toe syndactyly	HP:0010714
150468	CKAP2L	Ventricular septal defect	HP:0001629
150468	CKAP2L	Limitation of joint mobility	HP:0001376
150468	CKAP2L	Intellectual disability	HP:0001249
150468	CKAP2L	Seizures	HP:0001250
150468	CKAP2L	Muscular hypotonia	HP:0001252
150468	CKAP2L	Decreased body weight	HP:0004325
150468	CKAP2L	Hypertrichosis	HP:0000998
150468	CKAP2L	Intrauterine growth retardation	HP:0001511
150468	CKAP2L	Thin vermilion border	HP:0000233
150468	CKAP2L	Spasticity	HP:0001257
150468	CKAP2L	Downslanted palpebral fissures	HP:0000494
150468	CKAP2L	Global developmental delay	HP:0001263
150468	CKAP2L	Clinodactyly of the 5th finger	HP:0004209
150468	CKAP2L	Cerebellar atrophy	HP:0001272
150468	CKAP2L	Visual impairment	HP:0000505
150468	CKAP2L	Microcephaly	HP:0000252
150468	CKAP2L	Mutism	HP:0002300
150468	CKAP2L	Supernumerary nipple	HP:0002558
11212	PLPBP	Hepatomegaly	HP:0002240
11212	PLPBP	Intellectual disability	HP:0001249
11212	PLPBP	Poor speech	HP:0002465
11212	PLPBP	Seizures	HP:0001250
11212	PLPBP	Muscular hypotonia	HP:0001252
11212	PLPBP	Strabismus	HP:0000486
11212	PLPBP	Ventriculomegaly	HP:0002119
11212	PLPBP	Autosomal recessive inheritance	HP:0000007
11212	PLPBP	Cerebral cortical atrophy	HP:0002120
11212	PLPBP	Postnatal microcephaly	HP:0005484
11212	PLPBP	Respiratory insufficiency	HP:0002093
11212	PLPBP	Global developmental delay	HP:0001263
11212	PLPBP	Abnormal facial shape	HP:0001999
11212	PLPBP	EEG abnormality	HP:0002353
11212	PLPBP	Abnormality of metabolism/homeostasis	HP:0001939
11212	PLPBP	Status epilepticus	HP:0002133
11212	PLPBP	Metabolic acidosis	HP:0001942
11212	PLPBP	Neurological speech impairment	HP:0002167
11212	PLPBP	Abnormality of movement	HP:0100022
11212	PLPBP	Myoclonus	HP:0001336
11212	PLPBP	Apnea	HP:0002104
11212	PLPBP	Clonus	HP:0002169
11212	PLPBP	Brain atrophy	HP:0012444
11212	PLPBP	Hypertonia	HP:0001276
84942	WDR73	Small nail	HP:0001792
84942	WDR73	Joint contracture of the hand	HP:0009473
84942	WDR73	Hypoalbuminemia	HP:0003073
84942	WDR73	Cataract	HP:0000518
84942	WDR73	Autosomal recessive inheritance	HP:0000007
84942	WDR73	Optic atrophy	HP:0000648
84942	WDR73	Infantile onset	HP:0003593
84942	WDR73	Cerebral atrophy	HP:0002059
84942	WDR73	Camptodactyly of finger	HP:0100490
84942	WDR73	Macrotia	HP:0000400
84942	WDR73	Pachygyria	HP:0001302
84942	WDR73	Hemiplegia/hemiparesis	HP:0004374
84942	WDR73	Midface retrusion	HP:0011800
84942	WDR73	Dandy-Walker malformation	HP:0001305
84942	WDR73	Oligohydramnios	HP:0001562
84942	WDR73	Wide mouth	HP:0000154
84942	WDR73	Brain atrophy	HP:0012444
84942	WDR73	Adducted thumb	HP:0001181
84942	WDR73	Epicanthus	HP:0000286
84942	WDR73	Hypoplasia of the corpus callosum	HP:0002079
84942	WDR73	Poor speech	HP:0002465
84942	WDR73	Narrow nasal ridge	HP:0000418
84942	WDR73	Hand clenching	HP:0001188
84942	WDR73	Abnormality of the dentition	HP:0000164
84942	WDR73	Diffuse mesangial sclerosis	HP:0001967
84942	WDR73	EEG abnormality	HP:0002353
84942	WDR73	Dystonia	HP:0001332
84942	WDR73	Abnormality of the skin	HP:0000951
84942	WDR73	Microphthalmia	HP:0000568
84942	WDR73	Sleep disturbance	HP:0002360
84942	WDR73	Hypertelorism	HP:0000316
84942	WDR73	Hypoplasia of the brainstem	HP:0002365
84942	WDR73	Cognitive impairment	HP:0100543
84942	WDR73	Prominent nose	HP:0000448
84942	WDR73	Feeding difficulties	HP:0011968
84942	WDR73	Aplasia/Hypoplasia of the cerebellum	HP:0007360
84942	WDR73	Hyperreflexia	HP:0001347
84942	WDR73	Spastic tetraplegia	HP:0002510
84942	WDR73	Opacification of the corneal stroma	HP:0007759
84942	WDR73	Renal insufficiency	HP:0000083
84942	WDR73	Sloping forehead	HP:0000340
84942	WDR73	Slender finger	HP:0001238
84942	WDR73	Premature birth	HP:0001622
84942	WDR73	Hypotelorism	HP:0000601
84942	WDR73	High palate	HP:0000218
84942	WDR73	Micrognathia	HP:0000347
84942	WDR73	Proteinuria	HP:0000093
84942	WDR73	Flat occiput	HP:0005469
84942	WDR73	Intellectual disability	HP:0001249
84942	WDR73	Focal segmental glomerulosclerosis	HP:0000097
84942	WDR73	Camptodactyly	HP:0012385
84942	WDR73	Pes cavus	HP:0001761
84942	WDR73	Short stature	HP:0004322
84942	WDR73	Talipes equinovarus	HP:0001762
84942	WDR73	Seizures	HP:0001250
84942	WDR73	Abnormality of immune system physiology	HP:0010978
84942	WDR73	Ataxia	HP:0001251
84942	WDR73	Nephrotic syndrome	HP:0000100
84942	WDR73	Muscular hypotonia	HP:0001252
84942	WDR73	Strabismus	HP:0000486
84942	WDR73	Intrauterine growth retardation	HP:0001511
84942	WDR73	Muscular hypotonia of the trunk	HP:0008936
84942	WDR73	Spasticity	HP:0001257
84942	WDR73	Aqueductal stenosis	HP:0002410
84942	WDR73	Postnatal microcephaly	HP:0005484
84942	WDR73	Dysarthria	HP:0001260
84942	WDR73	Small for gestational age	HP:0001518
84942	WDR73	Delayed speech and language development	HP:0000750
84942	WDR73	Global developmental delay	HP:0001263
84942	WDR73	Nephropathy	HP:0000112
84942	WDR73	Low-set ears	HP:0000369
84942	WDR73	Progressive extrapyramidal movement disorder	HP:0007153
84942	WDR73	Hypoplasia of the ear cartilage	HP:0100720
84942	WDR73	Hypopigmentation of the skin	HP:0001010
84942	WDR73	Hiatus hernia	HP:0002036
84942	WDR73	Abnormality of the intervertebral disk	HP:0005108
84942	WDR73	Motor delay	HP:0001270
84942	WDR73	Cerebellar atrophy	HP:0001272
84942	WDR73	Hypoplasia of the iris	HP:0007676
84942	WDR73	Ptosis	HP:0000508
84942	WDR73	Microcephaly	HP:0000252
84942	WDR73	Hypertonia	HP:0001276
84942	WDR73	Nystagmus	HP:0000639
494551	WEE2	Infertility	HP:0000789
84947	SERAC1	Absent speech	HP:0001344
84947	SERAC1	Feeding difficulties	HP:0011968
84947	SERAC1	Hyperammonemia	HP:0001987
84947	SERAC1	Autosomal recessive inheritance	HP:0000007
84947	SERAC1	Developmental regression	HP:0002376
84947	SERAC1	Generalized hypotonia	HP:0001290
84947	SERAC1	Psychomotor retardation	HP:0025356
84947	SERAC1	3-Methylglutaconic aciduria	HP:0003535
84947	SERAC1	Encephalopathy	HP:0001298
84947	SERAC1	Abnormality of extrapyramidal motor function	HP:0002071
84947	SERAC1	Hypoglycemia	HP:0001943
84947	SERAC1	Sensorineural hearing impairment	HP:0000407
84947	SERAC1	Brain atrophy	HP:0012444
84947	SERAC1	Recurrent infections	HP:0002719
84947	SERAC1	Intellectual disability	HP:0001249
84947	SERAC1	Seizures	HP:0001250
84947	SERAC1	Failure to thrive	HP:0001508
84947	SERAC1	Increased serum lactate	HP:0002151
84947	SERAC1	Spasticity	HP:0001257
84947	SERAC1	Inability to walk	HP:0002540
84947	SERAC1	Global developmental delay	HP:0001263
84947	SERAC1	Variable expressivity	HP:0003828
84947	SERAC1	Dystonia	HP:0001332
84947	SERAC1	Lactic acidosis	HP:0003128
84947	SERAC1	Cerebellar atrophy	HP:0001272
84947	SERAC1	Abnormality of the coagulation cascade	HP:0003256
84947	SERAC1	Neonatal sepsis	HP:0040187
84947	SERAC1	Microcephaly	HP:0000252
3026	HABP2	Neoplasm of head and neck	HP:0012288
3026	HABP2	Chronic lung disease	HP:0006528
3026	HABP2	Spinal cord compression	HP:0002176
3026	HABP2	Recurrent fractures	HP:0002757
3026	HABP2	Abnormality of neck blood vessel	HP:3000037
3026	HABP2	Chronic noninfectious lymphadenopathy	HP:0002730
3026	HABP2	Nodular goiter	HP:0005994
3026	HABP2	Follicular thyroid carcinoma	HP:0006731
3026	HABP2	Colon cancer	HP:0003003
3026	HABP2	Bone pain	HP:0002653
3026	HABP2	Papillary renal cell carcinoma	HP:0006766
3026	HABP2	Papillary thyroid carcinoma	HP:0002895
3028	HSD17B10	Abnormal mitochondrial morphology	HP:0008322
3028	HSD17B10	Behavioral abnormality	HP:0000708
3028	HSD17B10	Restlessness	HP:0000711
3028	HSD17B10	Cerebral cortical atrophy	HP:0002120
3028	HSD17B10	Optic atrophy	HP:0000648
3028	HSD17B10	Developmental regression	HP:0002376
3028	HSD17B10	Infantile onset	HP:0003593
3028	HSD17B10	Agitation	HP:0000713
3028	HSD17B10	Generalized hypotonia	HP:0001290
3028	HSD17B10	Aggressive behavior	HP:0000718
3028	HSD17B10	Spastic tetraplegia	HP:0002510
3028	HSD17B10	X-linked dominant inheritance	HP:0001423
3028	HSD17B10	Metabolic acidosis	HP:0001942
3028	HSD17B10	Hypoglycemia	HP:0001943
3028	HSD17B10	Sensorineural hearing impairment	HP:0000407
3028	HSD17B10	Intellectual disability	HP:0001249
3028	HSD17B10	Retinal degeneration	HP:0000546
3028	HSD17B10	Seizures	HP:0001250
3028	HSD17B10	Muscular hypotonia	HP:0001252
3028	HSD17B10	Hypertrophic cardiomyopathy	HP:0001639
3028	HSD17B10	Progressive neurologic deterioration	HP:0002344
3028	HSD17B10	Dysarthria	HP:0001260
3028	HSD17B10	Delayed speech and language development	HP:0000750
3028	HSD17B10	Global developmental delay	HP:0001263
3028	HSD17B10	Choreoathetosis	HP:0001266
3028	HSD17B10	Abnormality of movement	HP:0100022
3028	HSD17B10	Lactic acidosis	HP:0003128
3028	HSD17B10	Visual loss	HP:0000572
3028	HSD17B10	Nystagmus	HP:0000639
3030	HADHA	Abnormal electroretinogram	HP:0000512
3030	HADHA	Rhabdomyolysis	HP:0003201
3030	HADHA	Areflexia	HP:0001284
3030	HADHA	Autosomal recessive inheritance	HP:0000007
3030	HADHA	Posterior staphyloma	HP:0030856
3030	HADHA	Generalized hypotonia	HP:0001290
3030	HADHA	Chronic hepatic failure	HP:0100626
3030	HADHA	Toe walking	HP:0040083
3030	HADHA	Chorioretinal atrophy	HP:0000533
3030	HADHA	Nyctalopia	HP:0000662
3030	HADHA	Hypoglycemia	HP:0001943
3030	HADHA	Abnormality of retinal pigmentation	HP:0007703
3030	HADHA	Abnormality of the amniotic fluid	HP:0001560
3030	HADHA	Distal peripheral sensory neuropathy	HP:0007067
3030	HADHA	Arrhythmia	HP:0011675
3030	HADHA	Diffuse hepatic steatosis	HP:0006555
3030	HADHA	Babinski sign	HP:0003487
3030	HADHA	Decreased patellar reflex	HP:0011808
3030	HADHA	Myopia	HP:0000545
3030	HADHA	Sudden death	HP:0001699
3030	HADHA	Primitive reflex	HP:0002476
3030	HADHA	Lower limb muscle weakness	HP:0007340
3030	HADHA	Skeletal myopathy	HP:0003756
3030	HADHA	Respiratory insufficiency	HP:0002093
3030	HADHA	Equinovarus deformity	HP:0008110
3030	HADHA	Left ventricular hypertrophy	HP:0001712
3030	HADHA	Cholestatic liver disease	HP:0002611
3030	HADHA	Frequent falls	HP:0002359
3030	HADHA	Lactic acidosis	HP:0003128
3030	HADHA	Rigors	HP:0025145
3030	HADHA	Visual loss	HP:0000572
3030	HADHA	Tricuspid regurgitation	HP:0005180
3030	HADHA	Hypoparathyroidism	HP:0000829
3030	HADHA	Respiratory failure	HP:0002878
3030	HADHA	Hepatomegaly	HP:0002240
3030	HADHA	Feeding difficulties	HP:0011968
3030	HADHA	Hypoketotic hypoglycemia	HP:0001985
3030	HADHA	Exotropia	HP:0000577
3030	HADHA	Muscle spasm	HP:0003394
3030	HADHA	Hyperammonemia	HP:0001987
3030	HADHA	Pigmentary retinopathy	HP:0000580
3030	HADHA	Equinus calcaneus	HP:0008138
3030	HADHA	Hypocalcemia	HP:0002901
3030	HADHA	Decreased activity of 3-hydroxyacyl-CoA dehydrogenase	HP:0100950
3030	HADHA	Exercise intolerance	HP:0003546
3030	HADHA	Elevated hepatic transaminase	HP:0002910
3030	HADHA	Difficulty climbing stairs	HP:0003551
3030	HADHA	Myoglobinuria	HP:0002913
3030	HADHA	Intellectual disability	HP:0001249
3030	HADHA	Pes cavus	HP:0001761
3030	HADHA	Seizures	HP:0001250
3030	HADHA	Congestive heart failure	HP:0001635
3030	HADHA	Muscular hypotonia	HP:0001252
3030	HADHA	Failure to thrive	HP:0001508
3030	HADHA	Photophobia	HP:0000613
3030	HADHA	Sensorimotor neuropathy	HP:0007141
3030	HADHA	Peripheral neuropathy	HP:0009830
3030	HADHA	Cardiomyopathy	HP:0001638
3030	HADHA	Lethargy	HP:0001254
3030	HADHA	Hypertrophic cardiomyopathy	HP:0001639
3030	HADHA	Progressive distal muscle weakness	HP:0009063
3030	HADHA	Retinopathy	HP:0000488
3030	HADHA	Coma	HP:0001259
3030	HADHA	Dilated cardiomyopathy	HP:0001644
3030	HADHA	Small for gestational age	HP:0001518
3030	HADHA	Global developmental delay	HP:0001263
3030	HADHA	Poor suck	HP:0002033
3030	HADHA	Cholestasis	HP:0001396
3030	HADHA	Mitral regurgitation	HP:0001653
3030	HADHA	Motor delay	HP:0001270
3030	HADHA	Failure to thrive in infancy	HP:0001531
3030	HADHA	Generalized muscle weakness	HP:0003324
3030	HADHA	Hydrops fetalis	HP:0001789
3030	HADHA	Myalgia	HP:0003326
3030	HADHA	Prenatal maternal abnormality	HP:0002686
3030	HADHA	Myopathy	HP:0003198
11222	MRPL3	Feeding difficulties	HP:0011968
11222	MRPL3	Hepatomegaly	HP:0002240
11222	MRPL3	Hyperalaninemia	HP:0003348
11222	MRPL3	Failure to thrive	HP:0001508
11222	MRPL3	Increased serum lactate	HP:0002151
11222	MRPL3	Autosomal recessive inheritance	HP:0000007
11222	MRPL3	Hypertrophic cardiomyopathy	HP:0001639
11222	MRPL3	Elevated hepatic transaminase	HP:0002910
11222	MRPL3	Dyspnea	HP:0002094
11222	MRPL3	Global developmental delay	HP:0001263
3032	HADHB	Rhabdomyolysis	HP:0003201
3032	HADHB	Areflexia	HP:0001284
3032	HADHB	Autosomal recessive inheritance	HP:0000007
3032	HADHB	Generalized hypotonia	HP:0001290
3032	HADHB	Chronic hepatic failure	HP:0100626
3032	HADHB	Toe walking	HP:0040083
3032	HADHB	Abnormality of the amniotic fluid	HP:0001560
3032	HADHB	Distal peripheral sensory neuropathy	HP:0007067
3032	HADHB	Arrhythmia	HP:0011675
3032	HADHB	Diffuse hepatic steatosis	HP:0006555
3032	HADHB	Babinski sign	HP:0003487
3032	HADHB	Decreased patellar reflex	HP:0011808
3032	HADHB	Primitive reflex	HP:0002476
3032	HADHB	Lower limb muscle weakness	HP:0007340
3032	HADHB	Skeletal myopathy	HP:0003756
3032	HADHB	Respiratory insufficiency	HP:0002093
3032	HADHB	Equinovarus deformity	HP:0008110
3032	HADHB	Left ventricular hypertrophy	HP:0001712
3032	HADHB	Frequent falls	HP:0002359
3032	HADHB	Lactic acidosis	HP:0003128
3032	HADHB	Rigors	HP:0025145
3032	HADHB	Tricuspid regurgitation	HP:0005180
3032	HADHB	Hypoparathyroidism	HP:0000829
3032	HADHB	Respiratory failure	HP:0002878
3032	HADHB	Hypoketotic hypoglycemia	HP:0001985
3032	HADHB	Muscle spasm	HP:0003394
3032	HADHB	Hyperammonemia	HP:0001987
3032	HADHB	Pigmentary retinopathy	HP:0000580
3032	HADHB	Equinus calcaneus	HP:0008138
3032	HADHB	Hypocalcemia	HP:0002901
3032	HADHB	Exercise intolerance	HP:0003546
3032	HADHB	Elevated hepatic transaminase	HP:0002910
3032	HADHB	Difficulty climbing stairs	HP:0003551
3032	HADHB	Myoglobinuria	HP:0002913
3032	HADHB	Pes cavus	HP:0001761
3032	HADHB	Seizures	HP:0001250
3032	HADHB	Congestive heart failure	HP:0001635
3032	HADHB	Muscular hypotonia	HP:0001252
3032	HADHB	Failure to thrive	HP:0001508
3032	HADHB	Sensorimotor neuropathy	HP:0007141
3032	HADHB	Peripheral neuropathy	HP:0009830
3032	HADHB	Cardiomyopathy	HP:0001638
3032	HADHB	Lethargy	HP:0001254
3032	HADHB	Progressive distal muscle weakness	HP:0009063
3032	HADHB	Coma	HP:0001259
3032	HADHB	Dilated cardiomyopathy	HP:0001644
3032	HADHB	Small for gestational age	HP:0001518
3032	HADHB	Global developmental delay	HP:0001263
3032	HADHB	Poor suck	HP:0002033
3032	HADHB	Cholestasis	HP:0001396
3032	HADHB	Mitral regurgitation	HP:0001653
3032	HADHB	Motor delay	HP:0001270
3032	HADHB	Failure to thrive in infancy	HP:0001531
3032	HADHB	Generalized muscle weakness	HP:0003324
3032	HADHB	Hydrops fetalis	HP:0001789
3032	HADHB	Myalgia	HP:0003326
3032	HADHB	Prenatal maternal abnormality	HP:0002686
3032	HADHB	Myopathy	HP:0003198
11224	RPL35	Short stature	HP:0004322
11224	RPL35	Abnormality of the hand	HP:0001155
11224	RPL35	Depressed nasal ridge	HP:0000457
11224	RPL35	Abnormality of the genital system	HP:0000078
11224	RPL35	Cleft palate	HP:0000175
11224	RPL35	Abnormality of the urinary system	HP:0000079
11224	RPL35	Thick lower lip vermilion	HP:0000179
11224	RPL35	Pallor	HP:0000980
11224	RPL35	Macrocytic anemia	HP:0001972
11224	RPL35	Delayed puberty	HP:0000823
11224	RPL35	Acute leukemia	HP:0002488
11224	RPL35	Fatigue	HP:0012378
11224	RPL35	Arrhythmia	HP:0011675
11224	RPL35	Migraine	HP:0002076
11224	RPL35	Short nose	HP:0003196
3033	HADH	Hypoketotic hypoglycemia	HP:0001985
3033	HADH	Hyperammonemia	HP:0001987
3033	HADH	Pigmentary retinopathy	HP:0000580
3033	HADH	Autosomal recessive inheritance	HP:0000007
3033	HADH	Confusion	HP:0001289
3033	HADH	Generalized hypotonia	HP:0001290
3033	HADH	Increased C-peptide level	HP:0030796
3033	HADH	Neonatal hypoglycemia	HP:0001998
3033	HADH	Dicarboxylic aciduria	HP:0003215
3033	HADH	Hypoglycemic encephalopathy	HP:0006929
3033	HADH	Heterogeneous	HP:0001425
3033	HADH	Decreased activity of 3-hydroxyacyl-CoA dehydrogenase	HP:0100950
3033	HADH	Prolonged prothrombin time	HP:0008151
3033	HADH	Acute hepatic failure	HP:0006554
3033	HADH	Fasting hyperinsulinemia	HP:0008283
3033	HADH	Vomiting	HP:0002013
3033	HADH	Diarrhea	HP:0002014
3033	HADH	Elevated hepatic transaminase	HP:0002910
3033	HADH	Fulminant hepatic failure	HP:0004448
3033	HADH	Myoglobinuria	HP:0002913
3033	HADH	Intellectual disability	HP:0001249
3033	HADH	Decreased plasma carnitine	HP:0003234
3033	HADH	Failure to thrive	HP:0001508
3033	HADH	Growth delay	HP:0001510
3033	HADH	Peripheral neuropathy	HP:0009830
3033	HADH	Lethargy	HP:0001254
3033	HADH	Hypertrophic cardiomyopathy	HP:0001639
3033	HADH	Intrauterine growth retardation	HP:0001511
3033	HADH	Abnormal circulating acetylcarnitine concentration	HP:0012071
3033	HADH	Neonatal hypotonia	HP:0001319
3033	HADH	Feeding difficulties in infancy	HP:0008872
3033	HADH	Dilated cardiomyopathy	HP:0001644
3033	HADH	Hepatic necrosis	HP:0002605
3033	HADH	Hypoglycemic coma	HP:0001325
3033	HADH	Mildly elevated creatine kinase	HP:0008180
3033	HADH	Proportionate short stature	HP:0003508
3033	HADH	Hepatic steatosis	HP:0001397
3033	HADH	Motor delay	HP:0001270
3033	HADH	Lactic acidosis	HP:0003128
3033	HADH	Hyperinsulinemic hypoglycemia	HP:0000825
3033	HADH	Prolonged QT interval	HP:0001657
3033	HADH	Hypoglycemic seizures	HP:0002173
3033	HADH	Increased circulating free fatty acid level	HP:0030781
3034	HAL	Hyperactivity	HP:0000752
3034	HAL	Specific learning disability	HP:0001328
3034	HAL	Behavioral abnormality	HP:0000708
3034	HAL	Neurological speech impairment	HP:0002167
3034	HAL	Hyperhistidinemia	HP:0010906
3034	HAL	Moderate global developmental delay	HP:0011343
3034	HAL	Histidinuria	HP:0002927
3035	HARS	Abnormal electroretinogram	HP:0000512
3035	HARS	Brisk reflexes	HP:0001348
3035	HARS	Demyelinating peripheral neuropathy	HP:0007108
3035	HARS	Autosomal dominant inheritance	HP:0000006
3035	HARS	Cataract	HP:0000518
3035	HARS	Autosomal recessive inheritance	HP:0000007
3035	HARS	Depressivity	HP:0000716
3035	HARS	Schizophrenia	HP:0100753
3035	HARS	Delayed gross motor development	HP:0002194
3035	HARS	Nyctalopia	HP:0000662
3035	HARS	Sensorineural hearing impairment	HP:0000407
3035	HARS	Impaired distal tactile sensation	HP:0006937
3035	HARS	Hemianopia	HP:0012377
3035	HARS	Motor axonal neuropathy	HP:0007002
3035	HARS	Horizontal nystagmus	HP:0000666
3035	HARS	Slender long bone	HP:0003100
3035	HARS	Vestibular hypofunction	HP:0001756
3035	HARS	Hand muscle weakness	HP:0030237
3035	HARS	Distal lower limb muscle weakness	HP:0009053
3035	HARS	Truncal ataxia	HP:0002078
3035	HARS	Optic disc pallor	HP:0000543
3035	HARS	Impaired pain sensation	HP:0007328
3035	HARS	Pes cavus	HP:0001761
3035	HARS	Hallucinations	HP:0000738
3035	HARS	Tip-toe gait	HP:0030051
3035	HARS	Astigmatism	HP:0000483
3035	HARS	Ataxia	HP:0001251
3035	HARS	Anxiety	HP:0000739
3035	HARS	Hammertoe	HP:0001765
3035	HARS	Photophobia	HP:0000613
3035	HARS	Hearing impairment	HP:0000365
3035	HARS	Absent Achilles reflex	HP:0003438
3035	HARS	Steppage gait	HP:0003376
3035	HARS	Iris hypopigmentation	HP:0007730
3035	HARS	Pain	HP:0012531
3035	HARS	High hypermetropia	HP:0008499
3035	HARS	Variable expressivity	HP:0003828
3035	HARS	Impaired vibration sensation in the lower limbs	HP:0002166
3035	HARS	Abnormal cochlea morphology	HP:0000375
3035	HARS	Distal sensory impairment	HP:0002936
3035	HARS	Visual impairment	HP:0000505
3035	HARS	Intrinsic hand muscle atrophy	HP:0008954
3035	HARS	Visual loss	HP:0000572
3035	HARS	Distal upper limb muscle weakness	HP:0008959
3035	HARS	Scotoma	HP:0000575
100134444	KCNJ18	EMG abnormality	HP:0003457
100134444	KCNJ18	Rhabdomyolysis	HP:0003201
100134444	KCNJ18	Muscle spasm	HP:0003394
100134444	KCNJ18	Thyrotoxicosis with toxic multinodular goitre	HP:0011785
100134444	KCNJ18	Thyrotoxicosis with toxic single thyroid nodule	HP:0011786
100134444	KCNJ18	Decreased urinary potassium	HP:0012364
100134444	KCNJ18	Tetraplegia	HP:0002445
100134444	KCNJ18	Hyperhidrosis	HP:0000975
100134444	KCNJ18	Urinary retention	HP:0000016
100134444	KCNJ18	Increased intramyocellular lipid droplets	HP:0012240
100134444	KCNJ18	Ophthalmoparesis	HP:0000597
100134444	KCNJ18	Periodic hypokalemic paresis	HP:0008153
100134444	KCNJ18	Respiratory paralysis	HP:0002203
100134444	KCNJ18	Transient hypophosphatemia	HP:0008285
100134444	KCNJ18	Postprandial hyperglycemia	HP:0011998
100134444	KCNJ18	Weight loss	HP:0001824
100134444	KCNJ18	Muscle stiffness	HP:0003552
100134444	KCNJ18	Constipation	HP:0002019
100134444	KCNJ18	Hypomagnesemia	HP:0002917
100134444	KCNJ18	Graves disease	HP:0100647
100134444	KCNJ18	Episodic flaccid weakness	HP:0003752
100134444	KCNJ18	Obesity	HP:0001513
100134444	KCNJ18	Hyperkalemia	HP:0002153
100134444	KCNJ18	Palpitations	HP:0001962
100134444	KCNJ18	Lower limb muscle weakness	HP:0007340
100134444	KCNJ18	Shortened PR interval	HP:0005165
100134444	KCNJ18	Late-onset proximal muscle weakness	HP:0003694
100134444	KCNJ18	Hyporeflexia	HP:0001265
100134444	KCNJ18	Mildly elevated creatine kinase	HP:0008180
100134444	KCNJ18	Episodic hypokalemia	HP:0012726
100134444	KCNJ18	Prolonged QT interval	HP:0001657
100134444	KCNJ18	Tremor	HP:0001337
100134444	KCNJ18	Second degree atrioventricular block	HP:0011706
100134444	KCNJ18	Exercise-induced muscle fatigue	HP:0009020
100134444	KCNJ18	Ventricular fibrillation	HP:0001663
3039	HBA1	Pectus carinatum	HP:0000768
3039	HBA1	Reduced alpha/beta synthesis ratio	HP:0011907
3039	HBA1	Autosomal dominant inheritance	HP:0000006
3039	HBA1	Heinz body anemia	HP:0005511
3039	HBA1	Nonspherocytic hemolytic anemia	HP:0001930
3039	HBA1	Microcytic anemia	HP:0001935
3039	HBA1	Malar flattening	HP:0000272
3039	HBA1	Abnormality of metabolism/homeostasis	HP:0001939
3039	HBA1	Retrognathia	HP:0000278
3039	HBA1	Polyhydramnios	HP:0001561
3039	HBA1	Oligohydramnios	HP:0001562
3039	HBA1	Cryptorchidism	HP:0000028
3039	HBA1	Epicanthus	HP:0000286
3039	HBA1	Underdeveloped supraorbital ridges	HP:0009891
3039	HBA1	Pericarditis	HP:0001701
3039	HBA1	Short toe	HP:0001831
3039	HBA1	Wide nasal bridge	HP:0000431
3039	HBA1	Hypospadias	HP:0000047
3039	HBA1	Aplasia/Hypoplasia of the earlobes	HP:0009906
3039	HBA1	Hypertelorism	HP:0000316
3039	HBA1	Hepatomegaly	HP:0002240
3039	HBA1	Splenomegaly	HP:0001744
3039	HBA1	Broad forehead	HP:0000337
3039	HBA1	Bruising susceptibility	HP:0000978
3039	HBA1	Pallor	HP:0000980
3039	HBA1	Hemolytic anemia	HP:0001878
3039	HBA1	Short neck	HP:0000470
3039	HBA1	Frontal bossing	HP:0002007
3039	HBA1	High palate	HP:0000218
3039	HBA1	Fatigue	HP:0012378
3039	HBA1	Micrognathia	HP:0000347
3039	HBA1	Flexion contracture	HP:0001371
3039	HBA1	High forehead	HP:0000348
3039	HBA1	Intellectual disability	HP:0001249
3039	HBA1	Short stature	HP:0004322
3039	HBA1	Talipes equinovarus	HP:0001762
3039	HBA1	Congestive heart failure	HP:0001635
3039	HBA1	Muscular hypotonia	HP:0001252
3039	HBA1	Failure to thrive	HP:0001508
3039	HBA1	Hypochromic microcytic anemia	HP:0004840
3039	HBA1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
3039	HBA1	Hydrocephalus	HP:0000238
3039	HBA1	Downslanted palpebral fissures	HP:0000494
3039	HBA1	Anemia	HP:0001903
3039	HBA1	Low-set, posteriorly rotated ears	HP:0000368
3039	HBA1	Neurological speech impairment	HP:0002167
3039	HBA1	Preeclampsia	HP:0100602
3039	HBA1	Microcephaly	HP:0000252
3039	HBA1	Hydrops fetalis	HP:0001789
3039	HBA1	Abnormal hemoglobin	HP:0011902
3039	HBA1	HbH hemoglobin	HP:0011903
11231	SEC63	Hepatomegaly	HP:0002240
11231	SEC63	Gastroesophageal reflux	HP:0002020
11231	SEC63	Abnormality of the pancreas	HP:0001732
11231	SEC63	Autosomal dominant inheritance	HP:0000006
11231	SEC63	Abdominal distention	HP:0003270
11231	SEC63	Feeding difficulties in infancy	HP:0008872
11231	SEC63	Abdominal pain	HP:0002027
11231	SEC63	Respiratory insufficiency	HP:0002093
11231	SEC63	Increased total bilirubin	HP:0003573
11231	SEC63	Dilatation	HP:0002617
11231	SEC63	Back pain	HP:0003418
11231	SEC63	Multiple renal cysts	HP:0005562
11231	SEC63	Adult onset	HP:0003581
11231	SEC63	Polycystic liver disease	HP:0006557
11231	SEC63	Hepatic cysts	HP:0001407
11231	SEC63	Gastrointestinal hemorrhage	HP:0002239
3040	HBA2	Pectus carinatum	HP:0000768
3040	HBA2	Reduced alpha/beta synthesis ratio	HP:0011907
3040	HBA2	Autosomal dominant inheritance	HP:0000006
3040	HBA2	Heinz body anemia	HP:0005511
3040	HBA2	Nonspherocytic hemolytic anemia	HP:0001930
3040	HBA2	Microcytic anemia	HP:0001935
3040	HBA2	Malar flattening	HP:0000272
3040	HBA2	Abnormality of metabolism/homeostasis	HP:0001939
3040	HBA2	Retrognathia	HP:0000278
3040	HBA2	Polyhydramnios	HP:0001561
3040	HBA2	Oligohydramnios	HP:0001562
3040	HBA2	Cryptorchidism	HP:0000028
3040	HBA2	Epicanthus	HP:0000286
3040	HBA2	Underdeveloped supraorbital ridges	HP:0009891
3040	HBA2	Pericarditis	HP:0001701
3040	HBA2	Short toe	HP:0001831
3040	HBA2	Wide nasal bridge	HP:0000431
3040	HBA2	Hypospadias	HP:0000047
3040	HBA2	Aplasia/Hypoplasia of the earlobes	HP:0009906
3040	HBA2	Hypertelorism	HP:0000316
3040	HBA2	Hepatomegaly	HP:0002240
3040	HBA2	Splenomegaly	HP:0001744
3040	HBA2	Broad forehead	HP:0000337
3040	HBA2	Bruising susceptibility	HP:0000978
3040	HBA2	Pallor	HP:0000980
3040	HBA2	Hemolytic anemia	HP:0001878
3040	HBA2	Short neck	HP:0000470
3040	HBA2	Frontal bossing	HP:0002007
3040	HBA2	High palate	HP:0000218
3040	HBA2	Fatigue	HP:0012378
3040	HBA2	Micrognathia	HP:0000347
3040	HBA2	Flexion contracture	HP:0001371
3040	HBA2	High forehead	HP:0000348
3040	HBA2	Intellectual disability	HP:0001249
3040	HBA2	Short stature	HP:0004322
3040	HBA2	Talipes equinovarus	HP:0001762
3040	HBA2	Congestive heart failure	HP:0001635
3040	HBA2	Muscular hypotonia	HP:0001252
3040	HBA2	Failure to thrive	HP:0001508
3040	HBA2	Hypochromic microcytic anemia	HP:0004840
3040	HBA2	Aplasia/Hypoplasia of the eyebrow	HP:0100840
3040	HBA2	Hydrocephalus	HP:0000238
3040	HBA2	Downslanted palpebral fissures	HP:0000494
3040	HBA2	Anemia	HP:0001903
3040	HBA2	Low-set, posteriorly rotated ears	HP:0000368
3040	HBA2	Neurological speech impairment	HP:0002167
3040	HBA2	Preeclampsia	HP:0100602
3040	HBA2	Microcephaly	HP:0000252
3040	HBA2	Hydrops fetalis	HP:0001789
3040	HBA2	Abnormal hemoglobin	HP:0011902
3040	HBA2	HbH hemoglobin	HP:0011903
338917	VSX2	Cataract	HP:0000518
338917	VSX2	Autosomal recessive inheritance	HP:0000007
338917	VSX2	Microphthalmia	HP:0000568
338917	VSX2	Coloboma	HP:0000589
11232	POLG2	Ragged-red muscle fibers	HP:0003200
11232	POLG2	EMG: myopathic abnormalities	HP:0003458
11232	POLG2	Focal white matter lesions	HP:0007042
11232	POLG2	Facial palsy	HP:0010628
11232	POLG2	Bipolar affective disorder	HP:0007302
11232	POLG2	Cataract	HP:0000518
11232	POLG2	Autosomal dominant inheritance	HP:0000006
11232	POLG2	Generalized hypotonia	HP:0001290
11232	POLG2	Nocturia	HP:0000017
11232	POLG2	Resting tremor	HP:0002322
11232	POLG2	Gait ataxia	HP:0002066
11232	POLG2	Gastroparesis	HP:0002578
11232	POLG2	Quadriceps muscle weakness	HP:0003731
11232	POLG2	Bradykinesia	HP:0002067
11232	POLG2	Peripheral axonal neuropathy	HP:0003477
11232	POLG2	Mitochondrial myopathy	HP:0003737
11232	POLG2	Ketosis	HP:0001946
11232	POLG2	Arrhythmia	HP:0011675
11232	POLG2	Migraine	HP:0002076
11232	POLG2	External ophthalmoplegia	HP:0000544
11232	POLG2	Glucose intolerance	HP:0001952
11232	POLG2	Elevated serum creatine kinase	HP:0003236
11232	POLG2	Palpitations	HP:0001962
11232	POLG2	Osteoporosis	HP:0000939
11232	POLG2	Respiratory insufficiency	HP:0002093
11232	POLG2	Left ventricular hypertrophy	HP:0001712
11232	POLG2	Diabetes mellitus	HP:0000819
11232	POLG2	Hypothyroidism	HP:0000821
11232	POLG2	Frequent falls	HP:0002359
11232	POLG2	Exertional dyspnea	HP:0002875
11232	POLG2	Easy fatigability	HP:0003388
11232	POLG2	Cognitive impairment	HP:0100543
11232	POLG2	Muscle spasm	HP:0003394
11232	POLG2	Hyperthyroidism	HP:0000836
11232	POLG2	Facial diplegia	HP:0001349
11232	POLG2	Hypokinesia	HP:0002375
11232	POLG2	Abnormality of the mitochondrion	HP:0012103
11232	POLG2	Edema	HP:0000969
11232	POLG2	Depressivity	HP:0000716
11232	POLG2	Progressive external ophthalmoplegia	HP:0000590
11232	POLG2	Hypomimic face	HP:0000338
11232	POLG2	Ventricular arrhythmia	HP:0004308
11232	POLG2	Goiter	HP:0000853
11232	POLG2	Fatigue	HP:0012378
11232	POLG2	Exercise intolerance	HP:0003546
11232	POLG2	Shoulder girdle muscle weakness	HP:0003547
11232	POLG2	Cogwheel rigidity	HP:0002396
11232	POLG2	Progressive	HP:0003676
11232	POLG2	Elevated hepatic transaminase	HP:0002910
11232	POLG2	Difficulty climbing stairs	HP:0003551
11232	POLG2	Dysphagia	HP:0002015
11232	POLG2	Cerebral visual impairment	HP:0100704
11232	POLG2	Seizures	HP:0001250
11232	POLG2	Constipation	HP:0002019
11232	POLG2	Anxiety	HP:0000739
11232	POLG2	Gastroesophageal reflux	HP:0002020
11232	POLG2	Failure to thrive	HP:0001508
11232	POLG2	Lethargy	HP:0001254
11232	POLG2	Increased serum lactate	HP:0002151
11232	POLG2	Cytochrome C oxidase-negative muscle fibers	HP:0003688
11232	POLG2	Multiple mitochondrial DNA deletions	HP:0003689
11232	POLG2	Limb muscle weakness	HP:0003690
11232	POLG2	Dysarthria	HP:0001260
11232	POLG2	Dilated cardiomyopathy	HP:0001644
11232	POLG2	Hearing impairment	HP:0000365
11232	POLG2	Absent Achilles reflex	HP:0003438
11232	POLG2	Global developmental delay	HP:0001263
11232	POLG2	Hyporeflexia	HP:0001265
11232	POLG2	Variable expressivity	HP:0003828
11232	POLG2	Atrial fibrillation	HP:0005110
11232	POLG2	Cerebellar atrophy	HP:0001272
11232	POLG2	Reduced ejection fraction	HP:0012664
11232	POLG2	Progressive muscle weakness	HP:0003323
11232	POLG2	Hypertonia	HP:0001276
11232	POLG2	Ptosis	HP:0000508
11232	POLG2	Adult onset	HP:0003581
11232	POLG2	Myalgia	HP:0003326
11234	HPS5	Thrombocytopenia	HP:0001873
11234	HPS5	Bruising susceptibility	HP:0000978
11234	HPS5	Prolonged bleeding time	HP:0003010
11234	HPS5	Ocular albinism	HP:0001107
11234	HPS5	Strabismus	HP:0000486
11234	HPS5	Hypoplasia of the fovea	HP:0007750
11234	HPS5	Autosomal recessive inheritance	HP:0000007
11234	HPS5	Horizontal nystagmus	HP:0000666
11234	HPS5	Albinism	HP:0001022
11234	HPS5	Reduced visual acuity	HP:0007663
60386	SLC25A19	Hepatomegaly	HP:0002240
60386	SLC25A19	Feeding difficulties	HP:0011968
60386	SLC25A19	Skeletal muscle atrophy	HP:0003202
60386	SLC25A19	Autosomal recessive inheritance	HP:0000007
60386	SLC25A19	Ventriculomegaly	HP:0002119
60386	SLC25A19	Optic atrophy	HP:0000648
60386	SLC25A19	Organic aciduria	HP:0001992
60386	SLC25A19	Limb hypertonia	HP:0002509
60386	SLC25A19	Paralysis	HP:0003470
60386	SLC25A19	Severe global developmental delay	HP:0011344
60386	SLC25A19	Temperature instability	HP:0005968
60386	SLC25A19	Sloping forehead	HP:0000340
60386	SLC25A19	Peripheral axonal neuropathy	HP:0003477
60386	SLC25A19	Generalized tonic-clonic seizures	HP:0002069
60386	SLC25A19	Metabolic acidosis	HP:0001942
60386	SLC25A19	Decreased fetal movement	HP:0001558
60386	SLC25A19	Micrognathia	HP:0000347
60386	SLC25A19	Flexion contracture	HP:0001371
60386	SLC25A19	Limitation of joint mobility	HP:0001376
60386	SLC25A19	Irritability	HP:0000737
60386	SLC25A19	Talipes equinovarus	HP:0001762
60386	SLC25A19	Muscular hypotonia	HP:0001252
60386	SLC25A19	Lethargy	HP:0001254
60386	SLC25A19	Muscular hypotonia of the trunk	HP:0008936
60386	SLC25A19	Cerebellar vermis hypoplasia	HP:0001320
60386	SLC25A19	Cerebellar hypoplasia	HP:0001321
60386	SLC25A19	Decreased skull ossification	HP:0004331
60386	SLC25A19	Osteoporosis	HP:0000939
60386	SLC25A19	Muscle weakness	HP:0001324
60386	SLC25A19	Spina bifida	HP:0002414
60386	SLC25A19	Hyporeflexia	HP:0001265
60386	SLC25A19	Death in infancy	HP:0001522
60386	SLC25A19	Difficulty walking	HP:0002355
60386	SLC25A19	Contractures of the joints of the lower limbs	HP:0005750
60386	SLC25A19	Polyneuropathy	HP:0001271
60386	SLC25A19	Lactic acidosis	HP:0003128
60386	SLC25A19	Congenital onset	HP:0003577
60386	SLC25A19	Cleft soft palate	HP:0000185
60386	SLC25A19	Increased CSF lactate	HP:0002490
60386	SLC25A19	Partial agenesis of the corpus callosum	HP:0001338
60386	SLC25A19	Agenesis of corpus callosum	HP:0001274
60386	SLC25A19	Lissencephaly	HP:0001339
60386	SLC25A19	Microcephaly	HP:0000252
60386	SLC25A19	Progressive microcephaly	HP:0000253
3043	HBB	Persistence of hemoglobin F	HP:0011904
3043	HBB	Abnormal bone structure	HP:0003330
3043	HBB	Reduced beta/alpha synthesis ratio	HP:0011906
3043	HBB	Hypoxemia	HP:0012418
3043	HBB	Reticulocytosis	HP:0001923
3043	HBB	Reduced alpha/beta synthesis ratio	HP:0011907
3043	HBB	Avascular necrosis	HP:0010885
3043	HBB	Cataract	HP:0000518
3043	HBB	Chronic hemolytic anemia	HP:0004870
3043	HBB	Autosomal dominant inheritance	HP:0000006
3043	HBB	Autosomal recessive inheritance	HP:0000007
3043	HBB	Heinz body anemia	HP:0005511
3043	HBB	Nonspherocytic hemolytic anemia	HP:0001930
3043	HBB	Chest pain	HP:0100749
3043	HBB	Arthralgia	HP:0002829
3043	HBB	Increased mean corpuscular volume	HP:0005518
3043	HBB	Microcytic anemia	HP:0001935
3043	HBB	Cardiorespiratory arrest	HP:0006543
3043	HBB	Stroke	HP:0001297
3043	HBB	Abnormality of metabolism/homeostasis	HP:0001939
3043	HBB	Hematuria	HP:0000790
3043	HBB	Nyctalopia	HP:0000662
3043	HBB	Fever	HP:0001945
3043	HBB	Increased red cell sickling tendency	HP:0008346
3043	HBB	Arrhythmia	HP:0011675
3043	HBB	Abnormality of the skeletal system	HP:0000924
3043	HBB	Recurrent bacterial infections	HP:0002718
3043	HBB	Recurrent infections	HP:0002719
3043	HBB	Depressed nasal bridge	HP:0005280
3043	HBB	Immunodeficiency	HP:0002721
3043	HBB	Abnormality of the dentition	HP:0000164
3043	HBB	Genu valgum	HP:0002857
3043	HBB	Osteoporosis	HP:0000939
3043	HBB	Pulmonary arterial hypertension	HP:0002092
3043	HBB	Muscle weakness	HP:0001324
3043	HBB	Dyspnea	HP:0002094
3043	HBB	Diabetes mellitus	HP:0000819
3043	HBB	Hypersplenism	HP:0001971
3043	HBB	Hypothyroidism	HP:0000821
3043	HBB	Hypertension	HP:0000822
3043	HBB	Leukocytosis	HP:0001974
3043	HBB	Delayed puberty	HP:0000823
3043	HBB	Jaundice	HP:0000952
3043	HBB	Cholelithiasis	HP:0001081
3043	HBB	Elevated serum creatinine	HP:0003259
3043	HBB	Hypoparathyroidism	HP:0000829
3043	HBB	Hepatomegaly	HP:0002240
3043	HBB	Feeding difficulties	HP:0011968
3043	HBB	Osteomyelitis	HP:0002754
3043	HBB	Abnormality of the nervous system	HP:0000707
3043	HBB	Upslanted palpebral fissure	HP:0000582
3043	HBB	Venous thrombosis	HP:0004936
3043	HBB	Paresthesia	HP:0003401
3043	HBB	Depressivity	HP:0000716
3043	HBB	Pigment gallstones	HP:0011981
3043	HBB	Adrenal insufficiency	HP:0000846
3043	HBB	Abnormality of the spleen	HP:0001743
3043	HBB	Splenomegaly	HP:0001744
3043	HBB	Neoplasm of the liver	HP:0002896
3043	HBB	Increased serum ferritin	HP:0003281
3043	HBB	Renal insufficiency	HP:0000083
3043	HBB	Neutropenia	HP:0001875
3043	HBB	Pallor	HP:0000980
3043	HBB	Priapism	HP:0200023
3043	HBB	Hemolytic anemia	HP:0001878
3043	HBB	Unconjugated hyperbilirubinemia	HP:0008282
3043	HBB	Increased lactate dehydrogenase activity	HP:0025435
3043	HBB	Skeletal dysplasia	HP:0002652
3043	HBB	Elevated hepatic transaminase	HP:0002910
3043	HBB	Abnormality of the hypothalamus-pituitary axis	HP:0000864
3043	HBB	Anxiety	HP:0000739
3043	HBB	Iron deficiency anemia	HP:0001891
3043	HBB	Cardiomyopathy	HP:0001638
3043	HBB	Thrombocytosis	HP:0001894
3043	HBB	Hypochromic microcytic anemia	HP:0004840
3043	HBB	Cardiomegaly	HP:0001640
3043	HBB	Retinopathy	HP:0000488
3043	HBB	Malabsorption	HP:0002024
3043	HBB	Skin ulcer	HP:0200042
3043	HBB	Abdominal pain	HP:0002027
3043	HBB	Hearing impairment	HP:0000365
3043	HBB	Anemia	HP:0001903
3043	HBB	Cirrhosis	HP:0001394
3043	HBB	Cholestasis	HP:0001396
3043	HBB	Visual impairment	HP:0000505
3043	HBB	Monochromacy	HP:0007803
3043	HBB	Malar prominence	HP:0010620
3043	HBB	Abnormality of the thorax	HP:0000765
3043	HBB	Abnormal hemoglobin	HP:0011902
11235	PDCD10	Choroidal hemangioma	HP:0007872
11235	PDCD10	Seizures	HP:0001250
11235	PDCD10	Meningioma	HP:0002858
11235	PDCD10	Headache	HP:0002315
11235	PDCD10	Vascular skin abnormality	HP:0011276
11235	PDCD10	Episodic vomiting	HP:0002572
11235	PDCD10	Focal T2 hyperintense brainstem lesion	HP:0012748
11235	PDCD10	Abnormality of the cerebrum	HP:0002060
11235	PDCD10	Focal T2 hypointense brainstem lesion	HP:0012749
11235	PDCD10	Paralysis	HP:0003470
11235	PDCD10	Spinal cord lesion	HP:0100561
11235	PDCD10	Venous malformation	HP:0012721
11235	PDCD10	Increased intracranial pressure	HP:0002516
11235	PDCD10	Somatic mutation	HP:0001428
11235	PDCD10	Retinal cavernous angioma	HP:0011513
11235	PDCD10	Scoliosis	HP:0002650
11235	PDCD10	Cognitive impairment	HP:0100543
11235	PDCD10	Cerebral hemorrhage	HP:0001342
11235	PDCD10	Neuroma	HP:0030430
11236	RNF139	Renal cell carcinoma	HP:0005584
11236	RNF139	Sporadic	HP:0003745
3045	HBD	Abnormal hemoglobin	HP:0011902
3045	HBD	Microcytic anemia	HP:0001935
3047	HBG1	Splenomegaly	HP:0001744
3047	HBG1	Persistence of hemoglobin F	HP:0011904
3047	HBG1	Hepatomegaly	HP:0002240
3047	HBG1	Abnormal bone structure	HP:0003330
3047	HBG1	Pallor	HP:0000980
3047	HBG1	Autosomal dominant inheritance	HP:0000006
3047	HBG1	Abnormal hemoglobin	HP:0011902
3047	HBG1	Anemia	HP:0001903
3047	HBG1	Microcytic anemia	HP:0001935
3048	HBG2	Splenomegaly	HP:0001744
3048	HBG2	Persistence of hemoglobin F	HP:0011904
3048	HBG2	Hepatomegaly	HP:0002240
3048	HBG2	Cyanosis	HP:0000961
3048	HBG2	Abnormal bone structure	HP:0003330
3048	HBG2	Reticulocytosis	HP:0001923
3048	HBG2	Pallor	HP:0000980
3048	HBG2	Autosomal dominant inheritance	HP:0000006
3048	HBG2	Methemoglobinemia	HP:0012119
3048	HBG2	Jaundice	HP:0000952
3048	HBG2	Congenital onset	HP:0003577
3048	HBG2	Anemia	HP:0001903
3052	HCCS	Cleft earlobe	HP:0011265
3052	HCCS	Cataract	HP:0000518
3052	HCCS	Amblyopia	HP:0000646
3052	HCCS	Sclerocornea	HP:0000647
3052	HCCS	Abnormal cardiac septum morphology	HP:0001671
3052	HCCS	Congenital diaphragmatic hernia	HP:0000776
3052	HCCS	Anteriorly placed anus	HP:0001545
3052	HCCS	Vitritis	HP:0011531
3052	HCCS	Hypoplasia of the uterus	HP:0000013
3052	HCCS	X-linked dominant inheritance	HP:0001423
3052	HCCS	Anophthalmia	HP:0000528
3052	HCCS	Abnormality of metabolism/homeostasis	HP:0001939
3052	HCCS	Abnormality of the fallopian tube	HP:0011027
3052	HCCS	Retrognathia	HP:0000278
3052	HCCS	Abnormality of retinal pigmentation	HP:0007703
3052	HCCS	Midface retrusion	HP:0011800
3052	HCCS	Abnormality of the anus	HP:0004378
3052	HCCS	Arrhythmia	HP:0011675
3052	HCCS	Hypopigmented skin patches	HP:0001053
3052	HCCS	Erythema	HP:0010783
3052	HCCS	Histiocytoid cardiomyopathy	HP:0005152
3052	HCCS	Echolalia	HP:0010529
3052	HCCS	Abnormal testis morphology	HP:0000035
3052	HCCS	Retinal dysplasia	HP:0007973
3052	HCCS	Male pseudohermaphroditism	HP:0000037
3052	HCCS	Epispadias	HP:0000039
3052	HCCS	Tricuspid valve prolapse	HP:0001704
3052	HCCS	Chordee	HP:0000041
3052	HCCS	Abnormality of dental enamel	HP:0000682
3052	HCCS	Retinal dystrophy	HP:0000556
3052	HCCS	Hypospadias	HP:0000047
3052	HCCS	Wide nasal bridge	HP:0000431
3052	HCCS	Specific learning disability	HP:0001328
3052	HCCS	Respiratory distress	HP:0002098
3052	HCCS	Absent septum pellucidum	HP:0001331
3052	HCCS	Chorioretinal dysplasia	HP:0007731
3052	HCCS	Dysphasia	HP:0002357
3052	HCCS	Micropenis	HP:0000054
3052	HCCS	Severe short stature	HP:0003510
3052	HCCS	Microphthalmia	HP:0000568
3052	HCCS	Hyperpigmentation of the skin	HP:0000953
3052	HCCS	Visual loss	HP:0000572
3052	HCCS	Tricuspid regurgitation	HP:0005180
3052	HCCS	Ovotestis	HP:0012861
3052	HCCS	Abnormality of the nail	HP:0001597
3052	HCCS	Wide nose	HP:0000445
3052	HCCS	Ambiguous genitalia	HP:0000062
3052	HCCS	Respiratory failure	HP:0002878
3052	HCCS	Overriding aorta	HP:0002623
3052	HCCS	Feeding difficulties	HP:0011968
3052	HCCS	Sacral dimple	HP:0000960
3052	HCCS	Pigmentary retinopathy	HP:0000580
3052	HCCS	Aphasia	HP:0002381
3052	HCCS	Functional motor deficit	HP:0004302
3052	HCCS	Abnormal facial shape	HP:0001999
3052	HCCS	Mandibular aplasia	HP:0009939
3052	HCCS	Status epilepticus	HP:0002133
3052	HCCS	Clitoral hypertrophy	HP:0008665
3052	HCCS	Micrognathia	HP:0000347
3052	HCCS	Ventricular septal defect	HP:0001629
3052	HCCS	Atrial septal defect	HP:0001631
3052	HCCS	Colpocephaly	HP:0030048
3052	HCCS	Intellectual disability	HP:0001249
3052	HCCS	Short stature	HP:0004322
3052	HCCS	Seizures	HP:0001250
3052	HCCS	Mitral valve prolapse	HP:0001634
3052	HCCS	Iris coloboma	HP:0000612
3052	HCCS	Failure to thrive	HP:0001508
3052	HCCS	Asymmetric, linear skin defects	HP:0007398
3052	HCCS	Abnormal nasolacrimal system morphology	HP:0000614
3052	HCCS	Intellectual disability, progressive	HP:0006887
3052	HCCS	Anal atresia	HP:0002023
3052	HCCS	Hypertrophic cardiomyopathy	HP:0001639
3052	HCCS	Blindness	HP:0000618
3052	HCCS	Dilated cardiomyopathy	HP:0001644
3052	HCCS	Hearing impairment	HP:0000365
3052	HCCS	Hydrocephalus	HP:0000238
3052	HCCS	Dermal atrophy	HP:0004334
3052	HCCS	Global developmental delay	HP:0001263
3052	HCCS	Abnormality of the rectum	HP:0002034
3052	HCCS	Abnormal eyelash morphology	HP:0000499
3052	HCCS	Posterior embryotoxon	HP:0000627
3052	HCCS	Glaucoma	HP:0000501
3052	HCCS	Mitral regurgitation	HP:0001653
3052	HCCS	Agenesis of corpus callosum	HP:0001274
3052	HCCS	Microcephaly	HP:0000252
3052	HCCS	Mutism	HP:0002300
3053	SERPIND1	Disseminated intravascular coagulation	HP:0005521
3053	SERPIND1	Recurrent deep vein thrombosis	HP:0004850
3053	SERPIND1	Autosomal dominant inheritance	HP:0000006
3053	SERPIND1	Post-angioplasty coronary artery restenosis	HP:0004761
3054	HCFC1	Methylmalonic acidemia	HP:0002912
3054	HCFC1	Intellectual disability	HP:0001249
3054	HCFC1	Athetosis	HP:0002305
3054	HCFC1	Seizures	HP:0001250
3054	HCFC1	Short stature	HP:0004322
3054	HCFC1	Failure to thrive	HP:0001508
3054	HCFC1	Infantile onset	HP:0003593
3054	HCFC1	Generalized hypotonia	HP:0001290
3054	HCFC1	X-linked recessive inheritance	HP:0001419
3054	HCFC1	Homocystinuria	HP:0002156
3054	HCFC1	Brachycephaly	HP:0000248
3054	HCFC1	Chorea	HP:0002072
3054	HCFC1	Methylmalonic aciduria	HP:0012120
3054	HCFC1	Hypsarrhythmia	HP:0002521
3054	HCFC1	Microcephaly	HP:0000252
93166	PRDM6	Autosomal dominant inheritance	HP:0000006
93166	PRDM6	Patent ductus arteriosus	HP:0001643
84976	DISP1	Short philtrum	HP:0000322
84976	DISP1	EMG: myopathic abnormalities	HP:0003458
84976	DISP1	Hemangioma	HP:0001028
84976	DISP1	Choanal atresia	HP:0000453
84976	DISP1	Duodenal atresia	HP:0002247
84976	DISP1	Maternal diabetes	HP:0009800
84976	DISP1	Anteverted nares	HP:0000463
84976	DISP1	Holoprosencephaly	HP:0001360
84976	DISP1	Midnasal stenosis	HP:0010644
84976	DISP1	Premature birth	HP:0001622
84976	DISP1	Hypotelorism	HP:0000601
84976	DISP1	Scoliosis	HP:0002650
84976	DISP1	Hypoplasia of penis	HP:0008736
84976	DISP1	Intellectual disability	HP:0001249
84976	DISP1	Short stature	HP:0004322
84976	DISP1	Seizures	HP:0001250
84976	DISP1	Iris coloboma	HP:0000612
84976	DISP1	Tetralogy of Fallot	HP:0001636
84976	DISP1	Strabismus	HP:0000486
84976	DISP1	Panhypopituitarism	HP:0000871
84976	DISP1	Intrauterine growth retardation	HP:0001511
84976	DISP1	Renal agenesis	HP:0000104
84976	DISP1	Single median maxillary incisor	HP:0006315
84976	DISP1	Cleft palate	HP:0000175
84976	DISP1	Asthma	HP:0002099
84976	DISP1	Tented upper lip vermilion	HP:0010804
84976	DISP1	Hypothyroidism	HP:0000821
84976	DISP1	Cyclopia	HP:0009914
84976	DISP1	Agenesis of corpus callosum	HP:0001274
84976	DISP1	Short nose	HP:0003196
84976	DISP1	Microcephaly	HP:0000252
84976	DISP1	Narrow nasal bridge	HP:0000446
84976	DISP1	Ambiguous genitalia	HP:0000062
60401	EDA2R	Hypohidrosis	HP:0000966
60401	EDA2R	Everted lower lip vermilion	HP:0000232
60401	EDA2R	Depressed nasal ridge	HP:0000457
60401	EDA2R	Aplasia/Hypoplasia of the eyebrow	HP:0100840
60401	EDA2R	Type I diabetes mellitus	HP:0100651
60401	EDA2R	Delayed eruption of teeth	HP:0000684
60401	EDA2R	Hypotrichosis	HP:0001006
60401	EDA2R	Everted upper lip vermilion	HP:0010803
60401	EDA2R	Microdontia	HP:0000691
60401	EDA2R	Hypertension	HP:0000822
60401	EDA2R	Frontal bossing	HP:0002007
60401	EDA2R	Sparse body hair	HP:0002231
60401	EDA2R	Short distal phalanx of finger	HP:0009882
60401	EDA2R	Anterior hypopituitarism	HP:0000830
3060	HCRT	Narcolepsy	HP:0030050
3060	HCRT	Hallucinations	HP:0000738
3060	HCRT	Autosomal dominant inheritance	HP:0000006
3060	HCRT	Transient global amnesia	HP:0010534
3060	HCRT	Slurred speech	HP:0001350
3060	HCRT	Obesity	HP:0001513
3060	HCRT	Excessive daytime sleepiness	HP:0002189
3060	HCRT	Excessive daytime somnolence	HP:0001262
3060	HCRT	Hypnopompic hallucinations	HP:0006896
3060	HCRT	Insomnia	HP:0100785
3060	HCRT	Heterogeneous	HP:0001425
3060	HCRT	Hypnagogic hallucinations	HP:0002519
3060	HCRT	Abnormality of vision	HP:0000504
3060	HCRT	Paroxysmal drowsiness	HP:0002330
3060	HCRT	Cataplexy	HP:0002524
3060	HCRT	Abnormal rapid eye movement sleep	HP:0002494
3060	HCRT	Syncope	HP:0001279
11253	MAN1B1	Prominent nose	HP:0000448
11253	MAN1B1	Short philtrum	HP:0000322
11253	MAN1B1	Seizures	HP:0001250
11253	MAN1B1	Intellectual disability, moderate	HP:0002342
11253	MAN1B1	Autosomal recessive inheritance	HP:0000007
11253	MAN1B1	Obesity	HP:0001513
11253	MAN1B1	Long eyebrows	HP:0004523
11253	MAN1B1	Dolichocephaly	HP:0000268
11253	MAN1B1	Aggressive behavior	HP:0000718
11253	MAN1B1	Downslanted palpebral fissures	HP:0000494
11253	MAN1B1	Wide nasal bridge	HP:0000431
11253	MAN1B1	Global developmental delay	HP:0001263
11253	MAN1B1	Malar flattening	HP:0000272
11253	MAN1B1	Pointed chin	HP:0000307
11253	MAN1B1	Long face	HP:0000276
11253	MAN1B1	Thin upper lip vermilion	HP:0000219
11253	MAN1B1	Hypertelorism	HP:0000316
11253	MAN1B1	Broad eyebrow	HP:0011229
11253	MAN1B1	Smooth philtrum	HP:0000319
3064	HTT	Abnormal involuntary eye movements	HP:0012547
3064	HTT	Autosomal dominant inheritance	HP:0000006
3064	HTT	Cerebral atrophy	HP:0002059
3064	HTT	Unsteady gait	HP:0002317
3064	HTT	Rigidity	HP:0002063
3064	HTT	Gait ataxia	HP:0002066
3064	HTT	Bradykinesia	HP:0002067
3064	HTT	Chorea	HP:0002072
3064	HTT	Progressive cerebellar ataxia	HP:0002073
3064	HTT	Weight loss	HP:0001824
3064	HTT	Caudate atrophy	HP:0002340
3064	HTT	EEG abnormality	HP:0002353
3064	HTT	Dystonia	HP:0001332
3064	HTT	Abnormality of movement	HP:0100022
3064	HTT	Myoclonus	HP:0001336
3064	HTT	Ankle clonus	HP:0011448
3064	HTT	Tremor	HP:0001337
3064	HTT	Absent speech	HP:0001344
3064	HTT	Feeding difficulties	HP:0011968
3064	HTT	Hyperreflexia	HP:0001347
3064	HTT	Abnormality of the cerebral white matter	HP:0002500
3064	HTT	Behavioral abnormality	HP:0000708
3064	HTT	Cerebellar vermis atrophy	HP:0006855
3064	HTT	Ventriculomegaly	HP:0002119
3064	HTT	Cerebral cortical atrophy	HP:0002120
3064	HTT	Abnormality of the voice	HP:0001608
3064	HTT	Developmental regression	HP:0002376
3064	HTT	Depressivity	HP:0000716
3064	HTT	Neuronal loss in basal ganglia	HP:0200147
3064	HTT	Dementia	HP:0000726
3064	HTT	Broad-based gait	HP:0002136
3064	HTT	Abnormal pyramidal sign	HP:0007256
3064	HTT	Scoliosis	HP:0002650
3064	HTT	Dysphagia	HP:0002015
3064	HTT	Irritability	HP:0000737
3064	HTT	Neuronal loss in central nervous system	HP:0002529
3064	HTT	Seizures	HP:0001250
3064	HTT	Muscular hypotonia of the trunk	HP:0008936
3064	HTT	Spasticity	HP:0001257
3064	HTT	Short foot	HP:0001773
3064	HTT	Oral motor hypotonia	HP:0030190
3064	HTT	Global developmental delay	HP:0001263
3064	HTT	Personality changes	HP:0000751
3064	HTT	Hyperactivity	HP:0000752
3064	HTT	Intellectual disability, severe	HP:0010864
3064	HTT	Abnormality of eye movement	HP:0000496
3064	HTT	Small hand	HP:0200055
3064	HTT	Cerebellar atrophy	HP:0001272
3064	HTT	Kyphosis	HP:0002808
3064	HTT	Gliosis	HP:0002171
84984	CEP19	Decreased HDL cholesterol concentration	HP:0003233
84984	CEP19	Intellectual disability	HP:0001249
84984	CEP19	Congestive heart failure	HP:0001635
84984	CEP19	Increased LDL cholesterol concentration	HP:0003141
84984	CEP19	Autosomal recessive inheritance	HP:0000007
84984	CEP19	Obesity	HP:0001513
84984	CEP19	Hypertriglyceridemia	HP:0002155
84984	CEP19	Hypercholesterolemia	HP:0003124
84984	CEP19	Hepatic steatosis	HP:0001397
84984	CEP19	Infertility	HP:0000789
84984	CEP19	Hypertension	HP:0000822
84984	CEP19	Insulin resistance	HP:0000855
84984	CEP19	Type II diabetes mellitus	HP:0005978
84984	CEP19	Myocardial infarction	HP:0001658
84984	CEP19	Azoospermia	HP:0000027
84984	CEP19	Premature coronary artery atherosclerosis	HP:0005181
84984	CEP19	Oligospermia	HP:0000798
84987	COX14	Hepatomegaly	HP:0002240
84987	COX14	Decreased liver function	HP:0001410
84987	COX14	Pigmentary retinopathy	HP:0000580
84987	COX14	Glycosuria	HP:0003076
84987	COX14	Autosomal recessive inheritance	HP:0000007
84987	COX14	Optic atrophy	HP:0000648
84987	COX14	Generalized hypotonia	HP:0001290
84987	COX14	Renal Fanconi syndrome	HP:0001994
84987	COX14	Increased intramyocellular lipid droplets	HP:0012240
84987	COX14	Heterogeneous	HP:0001425
84987	COX14	Mitochondrial inheritance	HP:0001427
84987	COX14	Sensorineural hearing impairment	HP:0000407
84987	COX14	Exercise intolerance	HP:0003546
84987	COX14	Aminoaciduria	HP:0003355
84987	COX14	Proteinuria	HP:0000093
84987	COX14	Intellectual disability	HP:0001249
84987	COX14	Seizures	HP:0001250
84987	COX14	Ataxia	HP:0001251
84987	COX14	Failure to thrive	HP:0001508
84987	COX14	Muscular hypotonia	HP:0001252
84987	COX14	Increased hepatocellular lipid droplets	HP:0006565
84987	COX14	Hyperphosphaturia	HP:0003109
84987	COX14	Hypertrophic cardiomyopathy	HP:0001639
84987	COX14	Increased serum lactate	HP:0002151
84987	COX14	Cytochrome C oxidase-negative muscle fibers	HP:0003688
84987	COX14	Global developmental delay	HP:0001263
84987	COX14	Anemia	HP:0001903
84987	COX14	Leukoencephalopathy	HP:0002352
84987	COX14	Respiratory distress	HP:0002098
84987	COX14	Motor delay	HP:0001270
84987	COX14	Lactic acidosis	HP:0003128
84987	COX14	Increased CSF lactate	HP:0002490
84987	COX14	Exertional dyspnea	HP:0002875
84987	COX14	Respiratory insufficiency due to muscle weakness	HP:0002747
84987	COX14	Renal tubular dysfunction	HP:0000124
84987	COX14	Ptosis	HP:0000508
3070	HELLS	Macrocephaly	HP:0000256
3070	HELLS	Umbilical hernia	HP:0001537
3070	HELLS	Autosomal recessive inheritance	HP:0000007
3070	HELLS	Flat face	HP:0012368
3070	HELLS	Agammaglobulinemia	HP:0004432
3070	HELLS	Abnormality of neutrophils	HP:0001874
3070	HELLS	Abnormality of chromosome stability	HP:0003220
3070	HELLS	Decreased antibody level in blood	HP:0004313
3070	HELLS	Micrognathia	HP:0000347
3070	HELLS	Recurrent respiratory infections	HP:0002205
3070	HELLS	Epicanthus	HP:0000286
3070	HELLS	Macroglossia	HP:0000158
3070	HELLS	Recurrent infections	HP:0002719
3070	HELLS	Depressed nasal bridge	HP:0005280
3070	HELLS	Lymphopenia	HP:0001888
3070	HELLS	Intellectual disability	HP:0001249
3070	HELLS	Short stature	HP:0004322
3070	HELLS	Malabsorption	HP:0002024
3070	HELLS	Anemia	HP:0001903
3070	HELLS	Global developmental delay	HP:0001263
3070	HELLS	Low-set ears	HP:0000369
3070	HELLS	Communicating hydrocephalus	HP:0001334
3070	HELLS	Motor delay	HP:0001270
3070	HELLS	Protruding tongue	HP:0010808
3070	HELLS	Congenital onset	HP:0003577
3070	HELLS	Hypertelorism	HP:0000316
3070	HELLS	Cellular immunodeficiency	HP:0005374
93183	PIGM	Hepatomegaly	HP:0002240
93183	PIGM	Splenomegaly	HP:0001744
93183	PIGM	Portal hypertension	HP:0001409
93183	PIGM	Portal vein thrombosis	HP:0030242
93183	PIGM	Seizures	HP:0001250
93183	PIGM	Reduced granulocyte CD59 level	HP:0031555
93183	PIGM	Hepatic vein thrombosis	HP:0030243
93183	PIGM	Atonic seizures	HP:0010819
93183	PIGM	Autosomal recessive inheritance	HP:0000007
93183	PIGM	Venous thrombosis	HP:0004936
93183	PIGM	Absence seizure	HP:0002121
84992	PIGY	Feeding difficulties	HP:0011968
84992	PIGY	Clinodactyly	HP:0030084
84992	PIGY	Abnormal renal collecting system morphology	HP:0004742
84992	PIGY	Autosomal recessive inheritance	HP:0000007
84992	PIGY	Developmental cataract	HP:0000519
84992	PIGY	Thickened helices	HP:0000391
84992	PIGY	Developmental regression	HP:0002376
84992	PIGY	Hip contracture	HP:0003273
84992	PIGY	Aggressive behavior	HP:0000718
84992	PIGY	Anteverted nares	HP:0000463
84992	PIGY	Elevated alkaline phosphatase	HP:0003155
84992	PIGY	2-3 toe syndactyly	HP:0004691
84992	PIGY	Large earlobe	HP:0009748
84992	PIGY	Narrow forehead	HP:0000341
84992	PIGY	Short neck	HP:0000470
84992	PIGY	Inguinal hernia	HP:0000023
84992	PIGY	Polyhydramnios	HP:0001561
84992	PIGY	Prominent nasal tip	HP:0005274
84992	PIGY	High palate	HP:0000218
84992	PIGY	Wide mouth	HP:0000154
84992	PIGY	Flexion contracture	HP:0001371
84992	PIGY	EEG with multifocal slow activity	HP:0010844
84992	PIGY	Vomiting	HP:0002013
84992	PIGY	Bulbous nose	HP:0000414
84992	PIGY	Depressed nasal bridge	HP:0005280
84992	PIGY	Short attention span	HP:0000736
84992	PIGY	Cerebral visual impairment	HP:0100704
84992	PIGY	Seizures	HP:0001250
84992	PIGY	Limb undergrowth	HP:0009826
84992	PIGY	Elevated serum creatine kinase	HP:0003236
84992	PIGY	Growth delay	HP:0001510
84992	PIGY	Strabismus	HP:0000486
84992	PIGY	Shortening of all distal phalanges of the fingers	HP:0006118
84992	PIGY	Muscular hypotonia of the trunk	HP:0008936
84992	PIGY	Hip dysplasia	HP:0001385
84992	PIGY	Osteopenia	HP:0000938
84992	PIGY	Deeply set eye	HP:0000490
84992	PIGY	Abdominal pain	HP:0002027
84992	PIGY	Elbow flexion contracture	HP:0002987
84992	PIGY	Knee flexion contracture	HP:0006380
84992	PIGY	Delayed speech and language development	HP:0000750
84992	PIGY	Global developmental delay	HP:0001263
84992	PIGY	Hyperactivity	HP:0000752
84992	PIGY	Dilatation	HP:0002617
84992	PIGY	Congenital onset	HP:0003577
84992	PIGY	Microcephaly	HP:0000252
84992	PIGY	Long palpebral fissure	HP:0000637
84992	PIGY	Echogenic fetal bowel	HP:0010943
3073	HEXA	Seizures	HP:0001250
3073	HEXA	Apathy	HP:0000741
3073	HEXA	GM2-ganglioside accumulation	HP:0003495
3073	HEXA	Autosomal recessive inheritance	HP:0000007
3073	HEXA	Cherry red spot of the macula	HP:0010729
3073	HEXA	Infantile onset	HP:0003593
3073	HEXA	Blindness	HP:0000618
3073	HEXA	Generalized hypotonia	HP:0001290
3073	HEXA	Aspiration	HP:0002835
3073	HEXA	Pallor	HP:0000980
3073	HEXA	Poor head control	HP:0002421
3073	HEXA	Dementia	HP:0000726
3073	HEXA	Psychomotor deterioration	HP:0002361
3073	HEXA	Exaggerated startle response	HP:0002267
3073	HEXA	Hypertonia	HP:0001276
3074	HEXB	Macrocephaly	HP:0000256
3074	HEXB	Skeletal muscle atrophy	HP:0003202
3074	HEXB	Hyperreflexia	HP:0001347
3074	HEXB	Hypohidrosis	HP:0000966
3074	HEXB	Autosomal recessive inheritance	HP:0000007
3074	HEXB	Fasciculations	HP:0002380
3074	HEXB	Episodic abdominal pain	HP:0002574
3074	HEXB	Hyperhidrosis	HP:0000975
3074	HEXB	Urinary incontinence	HP:0000020
3074	HEXB	Coarse facial features	HP:0000280
3074	HEXB	Hepatosplenomegaly	HP:0001433
3074	HEXB	Macroglossia	HP:0000158
3074	HEXB	Impotence	HP:0000802
3074	HEXB	Ataxia	HP:0001251
3074	HEXB	Cardiomegaly	HP:0001640
3074	HEXB	Progressive psychomotor deterioration	HP:0007272
3074	HEXB	Cherry red spot of the macula	HP:0010729
3074	HEXB	Blindness	HP:0000618
3074	HEXB	Chronic diarrhea	HP:0002028
3074	HEXB	Dysarthria	HP:0001260
3074	HEXB	Muscle weakness	HP:0001324
3074	HEXB	Impaired thermal sensitivity	HP:0006901
3074	HEXB	Abnormality of glycosphingolipid metabolism	HP:0004343
3074	HEXB	Upper motor neuron dysfunction	HP:0002493
3074	HEXB	Orthostatic hypotension	HP:0001278
3075	CFH	Progressive visual loss	HP:0000529
3075	CFH	Thickening of the glomerular basement membrane	HP:0004722
3075	CFH	Juvenile onset	HP:0003621
3075	CFH	Drusen	HP:0011510
3075	CFH	Autosomal dominant inheritance	HP:0000006
3075	CFH	Hematuria	HP:0000790
3075	CFH	Autosomal recessive inheritance	HP:0000007
3075	CFH	Decreased serum complement factor H	HP:0005369
3075	CFH	Glomerular subendothelial electron-dense deposits	HP:0004746
3075	CFH	Depletion of components of the alternative complement pathway	HP:0005389
3075	CFH	Recurrent bacterial infections	HP:0002718
3075	CFH	Chronic kidney disease	HP:0012622
3077	HFE	Hepatomegaly	HP:0002240
3077	HFE	Gynecomastia	HP:0000771
3077	HFE	Ascites	HP:0001541
3077	HFE	Hypogonadism	HP:0000135
3077	HFE	Autosomal recessive inheritance	HP:0000007
3077	HFE	Exocrine pancreatic insufficiency	HP:0001738
3077	HFE	Arthralgia	HP:0002829
3077	HFE	Amenorrhea	HP:0000141
3077	HFE	Splenomegaly	HP:0001744
3077	HFE	Vertigo	HP:0002321
3077	HFE	Increased serum ferritin	HP:0003281
3077	HFE	Fatigue	HP:0012378
3077	HFE	Pleural effusion	HP:0002202
3077	HFE	Arrhythmia	HP:0011675
3077	HFE	Azoospermia	HP:0000027
3077	HFE	Joint dislocation	HP:0001373
3077	HFE	Testicular atrophy	HP:0000029
3077	HFE	Elevated hepatic transaminase	HP:0002910
3077	HFE	Arthropathy	HP:0003040
3077	HFE	Limitation of joint mobility	HP:0001376
3077	HFE	Abnormality of the hypothalamus-pituitary axis	HP:0000864
3077	HFE	Glucose intolerance	HP:0001952
3077	HFE	Impotence	HP:0000802
3077	HFE	Congestive heart failure	HP:0001635
3077	HFE	Chondrocalcinosis	HP:0000934
3077	HFE	Peripheral neuropathy	HP:0009830
3077	HFE	Cardiomyopathy	HP:0001638
3077	HFE	Retinopathy	HP:0000488
3077	HFE	Cardiomegaly	HP:0001640
3077	HFE	Osteoporosis	HP:0000939
3077	HFE	Abdominal pain	HP:0002027
3077	HFE	Hypogonadotrophic hypogonadism	HP:0000044
3077	HFE	Telangiectasia	HP:0001009
3077	HFE	Cirrhosis	HP:0001394
3077	HFE	Diabetes mellitus	HP:0000819
3077	HFE	Cholestasis	HP:0001396
3077	HFE	Hepatic steatosis	HP:0001397
3077	HFE	Hyperpigmentation of the skin	HP:0000953
3077	HFE	Hepatocellular carcinoma	HP:0001402
3077	HFE	Alopecia	HP:0001596
3077	HFE	Increased serum iron	HP:0003452
3081	HGD	Vertebral fusion	HP:0002948
3081	HGD	Osteoarthritis	HP:0002758
3081	HGD	Autosomal recessive inheritance	HP:0000007
3081	HGD	Tendon rupture	HP:0100550
3081	HGD	Arthralgia	HP:0002829
3081	HGD	Intervertebral disk calcification	HP:0005645
3081	HGD	Aortic aneurysm	HP:0004942
3081	HGD	Abnormality of the urinary system	HP:0000079
3081	HGD	Blue sclerae	HP:0000592
3081	HGD	Thickened Achilles tendon	HP:0004690
3081	HGD	Abnormality of metabolism/homeostasis	HP:0001939
3081	HGD	Nephrolithiasis	HP:0000787
3081	HGD	Abnormality of the ear	HP:0000598
3081	HGD	Pigmentation of the sclera	HP:0007832
3081	HGD	Prostatitis	HP:0000024
3081	HGD	Arthritis	HP:0001369
3081	HGD	Back pain	HP:0003418
3081	HGD	Aminoaciduria	HP:0003355
3081	HGD	Aortic valve calcification	HP:0004380
3081	HGD	Joint dislocation	HP:0001373
3081	HGD	Mitral valve calcification	HP:0004382
3081	HGD	Arthropathy	HP:0003040
3081	HGD	Growth abnormality	HP:0001507
3081	HGD	Intervertebral disc degeneration	HP:0008419
3081	HGD	Cartilage destruction	HP:0100773
3081	HGD	Irregular hyperpigmentation	HP:0007400
3081	HGD	Joint swelling	HP:0001386
3081	HGD	Joint stiffness	HP:0001387
3081	HGD	Hearing abnormality	HP:0000364
3081	HGD	Abnormality of the nose	HP:0000366
3081	HGD	Calcification of cartilage	HP:0100593
3081	HGD	Coronary artery calcification	HP:0001717
3081	HGD	Hypertension	HP:0000822
3081	HGD	Kyphosis	HP:0002808
3081	HGD	Abnormality of vision	HP:0000504
3081	HGD	Myocardial infarction	HP:0001658
3081	HGD	Atherosclerosis	HP:0002621
3081	HGD	Abnormality of the nail	HP:0001597
3081	HGD	Reduced bone mineral density	HP:0004349
3082	HGF	Autosomal recessive inheritance	HP:0000007
3082	HGF	Prelingual sensorineural hearing impairment	HP:0000399
11274	USP18	Hepatomegaly	HP:0002240
11274	USP18	Seizures	HP:0001250
11274	USP18	Decreased liver function	HP:0001410
11274	USP18	Ascites	HP:0001541
11274	USP18	Lethargy	HP:0001254
11274	USP18	Autosomal recessive inheritance	HP:0000007
11274	USP18	Petechiae	HP:0000967
11274	USP18	Ventriculomegaly	HP:0002119
11274	USP18	Cerebellar hypoplasia	HP:0001321
11274	USP18	Gray matter heterotopia	HP:0002282
11274	USP18	Generalized hypotonia	HP:0001290
11274	USP18	Patent ductus arteriosus	HP:0001643
11274	USP18	Respiratory insufficiency	HP:0002093
11274	USP18	Polymicrogyria	HP:0002126
11274	USP18	Thrombocytopenia	HP:0001873
11274	USP18	Cerebral calcification	HP:0002514
11274	USP18	Lactic acidosis	HP:0003128
11274	USP18	Congenital onset	HP:0003577
11274	USP18	Microcephaly	HP:0000252
11274	USP18	Bradycardia	HP:0001662
11274	USP18	Elevated hepatic transaminase	HP:0002910
11274	USP18	Cerebral hemorrhage	HP:0001342
11277	TREX1	Autosomal dominant inheritance	HP:0000006
11277	TREX1	Myositis	HP:0100614
11277	TREX1	Autosomal recessive inheritance	HP:0000007
11277	TREX1	Spastic paraparesis	HP:0002313
11277	TREX1	Headache	HP:0002315
11277	TREX1	Cerebral atrophy	HP:0002059
11277	TREX1	Multiple joint contractures	HP:0002828
11277	TREX1	Arthralgia	HP:0002829
11277	TREX1	Morphological abnormality of the pyramidal tract	HP:0002062
11277	TREX1	Progressive visual loss	HP:0000529
11277	TREX1	Stroke	HP:0001297
11277	TREX1	Hemiplegia/hemiparesis	HP:0004374
11277	TREX1	Hematuria	HP:0000790
11277	TREX1	Abnormality of extrapyramidal motor function	HP:0002071
11277	TREX1	Migraine	HP:0002076
11277	TREX1	Hypoplasia of the corpus callosum	HP:0002079
11277	TREX1	Limb pain	HP:0009763
11277	TREX1	Juvenile onset	HP:0003621
11277	TREX1	Acrocyanosis	HP:0001063
11277	TREX1	Multiple gastric polyps	HP:0004394
11277	TREX1	Leukoencephalopathy	HP:0002352
11277	TREX1	Difficulty walking	HP:0002355
11277	TREX1	Diabetes mellitus	HP:0000819
11277	TREX1	Dystonia	HP:0001332
11277	TREX1	Hypothyroidism	HP:0000821
11277	TREX1	Micropenis	HP:0000054
11277	TREX1	Tremor	HP:0001337
11277	TREX1	Moyamoya phenomenon	HP:0011834
11277	TREX1	Abnormality of the nail	HP:0001597
11277	TREX1	Retinal hemorrhage	HP:0000573
11277	TREX1	Developmental glaucoma	HP:0001087
11277	TREX1	Loss of speech	HP:0002371
11277	TREX1	Ventriculomegaly	HP:0002119
11277	TREX1	Developmental regression	HP:0002376
11277	TREX1	Hoarse voice	HP:0001609
11277	TREX1	Plagiocephaly	HP:0001357
11277	TREX1	Aortic aneurysm	HP:0004942
11277	TREX1	Thrombocytopenia	HP:0001873
11277	TREX1	Porencephalic cyst	HP:0002132
11277	TREX1	Enchondroma	HP:0030038
11277	TREX1	Basal ganglia calcification	HP:0002135
11277	TREX1	Abnormal pyramidal sign	HP:0007256
11277	TREX1	Arthritis	HP:0001369
11277	TREX1	Scoliosis	HP:0002650
11277	TREX1	Arrhinencephaly	HP:0002139
11277	TREX1	Lower limb hyperreflexia	HP:0002395
11277	TREX1	Progressive	HP:0003676
11277	TREX1	Punctate vasculitis skin lesions	HP:0200030
11277	TREX1	Proteinuria	HP:0000093
11277	TREX1	Elevated hepatic transaminase	HP:0002910
11277	TREX1	Vasculitis in the skin	HP:0200029
11277	TREX1	Central nervous system degeneration	HP:0007009
11277	TREX1	Large beaked nose	HP:0003683
11277	TREX1	Calcification of the aorta	HP:0004963
11277	TREX1	Hypertrophic cardiomyopathy	HP:0001639
11277	TREX1	Cardiomegaly	HP:0001640
11277	TREX1	Skin ulcer	HP:0200042
11277	TREX1	Progressive forgetfulness	HP:0007017
11277	TREX1	Abnormal retinal vascular morphology	HP:0008046
11277	TREX1	Leukodystrophy	HP:0002415
11277	TREX1	Nephropathy	HP:0000112
11277	TREX1	Low-set ears	HP:0000369
11277	TREX1	Eyelid coloboma	HP:0000625
11277	TREX1	Macular edema	HP:0040049
11277	TREX1	Poor head control	HP:0002421
11277	TREX1	Retinal exudate	HP:0001147
11277	TREX1	Nystagmus	HP:0000639
11277	TREX1	Focal white matter lesions	HP:0007042
11277	TREX1	Micronodular cirrhosis	HP:0001413
11277	TREX1	Apraxia	HP:0002186
11277	TREX1	Intellectual disability, profound	HP:0002187
11277	TREX1	Multifocal cerebral white matter abnormalities	HP:0007052
11277	TREX1	Autoimmunity	HP:0002960
11277	TREX1	Progressive encephalopathy	HP:0002448
11277	TREX1	Sensory impairment	HP:0003474
11277	TREX1	Increased serum interferon-gamma level	HP:0030356
11277	TREX1	Hepatosplenomegaly	HP:0001433
11277	TREX1	Deep white matter hypodensities	HP:0007321
11277	TREX1	Fever	HP:0001945
11277	TREX1	Brain atrophy	HP:0012444
11277	TREX1	Raynaud phenomenon	HP:0030880
11277	TREX1	Unexplained fevers	HP:0001955
11277	TREX1	Extrapyramidal muscular rigidity	HP:0007076
11277	TREX1	Antinuclear antibody positivity	HP:0003493
11277	TREX1	Feeding difficulties in infancy	HP:0008872
11277	TREX1	Chronic lymphatic leukemia	HP:0005550
11277	TREX1	Prolonged neonatal jaundice	HP:0006579
11277	TREX1	Dry skin	HP:0000958
11277	TREX1	Hepatomegaly	HP:0002240
11277	TREX1	Demyelinating peripheral neuropathy	HP:0007108
11277	TREX1	Behavioral abnormality	HP:0000708
11277	TREX1	Cutis marmorata	HP:0000965
11277	TREX1	Petechiae	HP:0000967
11277	TREX1	Neonatal alloimmune thrombocytopenia	HP:0004809
11277	TREX1	Panniculitis	HP:0012490
11277	TREX1	Degeneration of the striatum	HP:0040140
11277	TREX1	Spastic tetraplegia	HP:0002510
11277	TREX1	Splenomegaly	HP:0001744
11277	TREX1	Cerebral calcification	HP:0002514
11277	TREX1	Glomerulopathy	HP:0100820
11277	TREX1	Abnormality of the periventricular white matter	HP:0002518
11277	TREX1	Dementia	HP:0000726
11277	TREX1	Muscle stiffness	HP:0003552
11277	TREX1	Irritability	HP:0000737
11277	TREX1	Short stature	HP:0004322
11277	TREX1	Seizures	HP:0001250
11277	TREX1	Lipoatrophy	HP:0100578
11277	TREX1	Ataxia	HP:0001251
11277	TREX1	Strabismus	HP:0000486
11277	TREX1	Chronic CSF lymphocytosis	HP:0009704
11277	TREX1	Muscular hypotonia of the trunk	HP:0008936
11277	TREX1	Retinopathy	HP:0000488
11277	TREX1	Spasticity	HP:0001257
11277	TREX1	Dysarthria	HP:0001260
11277	TREX1	Increased CSF interferon alpha	HP:0009709
11277	TREX1	Elevated erythrocyte sedimentation rate	HP:0003565
11277	TREX1	Chilblains	HP:0009710
11277	TREX1	Global developmental delay	HP:0001263
11277	TREX1	Telangiectasia	HP:0001009
11277	TREX1	Diminished ability to concentrate	HP:0031987
11277	TREX1	Mental deterioration	HP:0001268
11277	TREX1	Hemiparesis	HP:0001269
11277	TREX1	Visual impairment	HP:0000505
11277	TREX1	Ptosis	HP:0000508
11277	TREX1	Microcephaly	HP:0000252
11277	TREX1	Adult onset	HP:0003581
11277	TREX1	Progressive microcephaly	HP:0000253
11280	SCN11A	Seizures	HP:0001250
11280	SCN11A	Constipation	HP:0002019
11280	SCN11A	Autosomal dominant inheritance	HP:0000006
11280	SCN11A	Peripheral neuropathy	HP:0009830
11280	SCN11A	Vasculitis	HP:0002633
11280	SCN11A	Abnormal autonomic nervous system physiology	HP:0012332
11280	SCN11A	Muscle weakness	HP:0001324
11280	SCN11A	Pain insensitivity	HP:0007021
11280	SCN11A	Self-injurious behavior	HP:0100716
11280	SCN11A	Hyperhidrosis	HP:0000975
11280	SCN11A	Abnormal thrombocyte morphology	HP:0001872
11280	SCN11A	Pain	HP:0012531
11280	SCN11A	Leukemia	HP:0001909
11280	SCN11A	Motor delay	HP:0001270
11280	SCN11A	Pruritus	HP:0000989
11280	SCN11A	Hypothermia	HP:0002045
11280	SCN11A	Recurrent respiratory infections	HP:0002205
11280	SCN11A	Diarrhea	HP:0002014
11280	SCN11A	Erythema	HP:0010783
11281	POU6F2	Weight loss	HP:0001824
11281	POU6F2	Neoplasm of the liver	HP:0002896
11281	POU6F2	Hypertension	HP:0000822
11281	POU6F2	Hematuria	HP:0000790
11281	POU6F2	Fever	HP:0001945
11281	POU6F2	Nephroblastoma	HP:0002667
11281	POU6F2	Abdominal pain	HP:0002027
11281	POU6F2	Lymphadenopathy	HP:0002716
11281	POU6F2	Aniridia	HP:0000526
11281	POU6F2	Neoplasm of the lung	HP:0100526
3090	HIC1	Sacral dimple	HP:0000960
3090	HIC1	Seizures	HP:0001250
3090	HIC1	Ataxia	HP:0001251
3090	HIC1	Omphalocele	HP:0001539
3090	HIC1	Growth delay	HP:0001510
3090	HIC1	Cerebral cortical atrophy	HP:0002120
3090	HIC1	Anteverted nares	HP:0000463
3090	HIC1	Nephropathy	HP:0000112
3090	HIC1	Clinodactyly of the 5th finger	HP:0004209
3090	HIC1	EEG abnormality	HP:0002353
3090	HIC1	Abnormality of upper lip	HP:0000177
3090	HIC1	Polyhydramnios	HP:0001561
3090	HIC1	Abnormality of the cardiovascular system	HP:0001626
3090	HIC1	Lissencephaly	HP:0001339
3090	HIC1	High forehead	HP:0000348
3090	HIC1	Short nose	HP:0003196
3090	HIC1	Epicanthus	HP:0000286
3090	HIC1	Hypoplasia of the corpus callosum	HP:0002079
11284	PNKP	Seizures	HP:0001250
11284	PNKP	Skeletal muscle atrophy	HP:0003202
11284	PNKP	Ataxia	HP:0001251
11284	PNKP	Areflexia	HP:0001284
11284	PNKP	Epileptic encephalopathy	HP:0200134
11284	PNKP	Peripheral neuropathy	HP:0009830
11284	PNKP	Autosomal recessive inheritance	HP:0000007
11284	PNKP	Ventriculomegaly	HP:0002119
11284	PNKP	Generalized hypotonia	HP:0001290
11284	PNKP	Tetraplegia	HP:0002445
11284	PNKP	Hyperactivity	HP:0000752
11284	PNKP	Intellectual disability, severe	HP:0010864
11284	PNKP	Oculomotor apraxia	HP:0000657
11284	PNKP	Hyporeflexia	HP:0001265
11284	PNKP	Dystonia	HP:0001332
11284	PNKP	Motor delay	HP:0001270
11284	PNKP	Simplified gyral pattern	HP:0009879
11284	PNKP	Cerebellar atrophy	HP:0001272
11284	PNKP	Progressive microcephaly	HP:0000253
11284	PNKP	Rapidly progressive	HP:0003678
11284	PNKP	Cognitive impairment	HP:0100543
11284	PNKP	Hypoplasia of the corpus callosum	HP:0002079
11285	B4GALT7	Macrocephaly	HP:0000256
11285	B4GALT7	Pectus carinatum	HP:0000768
11285	B4GALT7	Genu recurvatum	HP:0002816
11285	B4GALT7	Skeletal muscle atrophy	HP:0003202
11285	B4GALT7	Absent earlobe	HP:0000387
11285	B4GALT7	Narrow chest	HP:0000774
11285	B4GALT7	Autosomal recessive inheritance	HP:0000007
11285	B4GALT7	Proptosis	HP:0000520
11285	B4GALT7	Generalized hypotonia	HP:0001290
11285	B4GALT7	Sparse eyelashes	HP:0000653
11285	B4GALT7	Arachnodactyly	HP:0001166
11285	B4GALT7	Long toe	HP:0010511
11285	B4GALT7	Small face	HP:0000274
11285	B4GALT7	Sparse and thin eyebrow	HP:0000535
11285	B4GALT7	Midface retrusion	HP:0011800
11285	B4GALT7	Cryptorchidism	HP:0000028
11285	B4GALT7	Epicanthus	HP:0000286
11285	B4GALT7	Radioulnar synostosis	HP:0002974
11285	B4GALT7	Narrow mouth	HP:0000160
11285	B4GALT7	Sparse scalp hair	HP:0002209
11285	B4GALT7	Lipodystrophy	HP:0009125
11285	B4GALT7	Osteopenia	HP:0000938
11285	B4GALT7	Slender toe	HP:0011308
11285	B4GALT7	Palmoplantar cutis gyrata	HP:0007469
11285	B4GALT7	Wide nasal bridge	HP:0000431
11285	B4GALT7	Cleft palate	HP:0000175
11285	B4GALT7	Atrophic scars	HP:0001075
11285	B4GALT7	Single transverse palmar crease	HP:0000954
11285	B4GALT7	Joint hyperflexibility	HP:0005692
11285	B4GALT7	Hypertelorism	HP:0000316
11285	B4GALT7	Kyphoscoliosis	HP:0002751
11285	B4GALT7	Bifid uvula	HP:0000193
11285	B4GALT7	Thin skin	HP:0000963
11285	B4GALT7	Flat forehead	HP:0004425
11285	B4GALT7	Testicular torsion	HP:0100813
11285	B4GALT7	Cutis laxa	HP:0000973
11285	B4GALT7	Hyperextensible skin	HP:0000974
11285	B4GALT7	Mild global developmental delay	HP:0011342
11285	B4GALT7	Abnormal facial shape	HP:0001999
11285	B4GALT7	Progeroid facial appearance	HP:0005328
11285	B4GALT7	Blue sclerae	HP:0000592
11285	B4GALT7	Abnormality of primary teeth	HP:0006481
11285	B4GALT7	Bowing of the long bones	HP:0006487
11285	B4GALT7	Scoliosis	HP:0002650
11285	B4GALT7	Flexion contracture	HP:0001371
11285	B4GALT7	Skeletal dysplasia	HP:0002652
11285	B4GALT7	Short stature	HP:0004322
11285	B4GALT7	Talipes equinovarus	HP:0001762
11285	B4GALT7	Pes planus	HP:0001763
11285	B4GALT7	Phalangeal dislocation	HP:0006243
11285	B4GALT7	Muscular hypotonia	HP:0001252
11285	B4GALT7	Failure to thrive	HP:0001508
11285	B4GALT7	Gingivitis	HP:0000230
11285	B4GALT7	Abnormality of skin pigmentation	HP:0001000
11285	B4GALT7	Pulmonic stenosis	HP:0001642
11285	B4GALT7	Joint laxity	HP:0001388
11285	B4GALT7	Talipes equinovalgus	HP:0001772
11285	B4GALT7	Global developmental delay	HP:0001263
11285	B4GALT7	Accelerated skeletal maturation	HP:0005616
11285	B4GALT7	Low-set ears	HP:0000369
11285	B4GALT7	Coxa valga	HP:0002673
11285	B4GALT7	Aortic valve stenosis	HP:0001650
11285	B4GALT7	Telecanthus	HP:0000506
11285	B4GALT7	Short clavicles	HP:0000894
3094	HINT1	EMG: myokymic discharges	HP:0100288
3094	HINT1	Skeletal muscle atrophy	HP:0003202
3094	HINT1	Muscle spasm	HP:0003394
3094	HINT1	Foot dorsiflexor weakness	HP:0009027
3094	HINT1	Autosomal recessive inheritance	HP:0000007
3094	HINT1	Paresthesia	HP:0003401
3094	HINT1	Progressive inability to walk	HP:0002505
3094	HINT1	Motor polyneuropathy	HP:0007178
3094	HINT1	Camptodactyly of finger	HP:0100490
3094	HINT1	Fasciculations	HP:0002380
3094	HINT1	Short third metatarsal	HP:0004686
3094	HINT1	Hyperhidrosis	HP:0000975
3094	HINT1	Distal sensory impairment of all modalities	HP:0003409
3094	HINT1	Split hand	HP:0001171
3094	HINT1	Peroneal muscle atrophy	HP:0009049
3094	HINT1	Motor axonal neuropathy	HP:0007002
3094	HINT1	Exercise intolerance	HP:0003546
3094	HINT1	Progressive	HP:0003676
3094	HINT1	Distal lower limb muscle weakness	HP:0009053
3094	HINT1	Exercise-induced leg cramps	HP:0008991
3094	HINT1	Muscle stiffness	HP:0003552
3094	HINT1	Abnormality of the foot	HP:0001760
3094	HINT1	Tetraparesis	HP:0002273
3094	HINT1	Pes cavus	HP:0001761
3094	HINT1	Handgrip myotonia	HP:0012899
3094	HINT1	Elevated serum creatine kinase	HP:0003236
3094	HINT1	Intellectual disability, mild	HP:0001256
3094	HINT1	Myokymia	HP:0002411
3094	HINT1	Achilles tendon contracture	HP:0001771
3094	HINT1	Weakness of the intrinsic hand muscles	HP:0009005
3094	HINT1	Absent Achilles reflex	HP:0003438
3094	HINT1	Percussion-induced rapid rolling muscle contractions	HP:0003760
3094	HINT1	Distal lower limb amyotrophy	HP:0008944
3094	HINT1	Specific learning disability	HP:0001328
3094	HINT1	Steppage gait	HP:0003376
3094	HINT1	EMG: chronic denervation signs	HP:0003444
3094	HINT1	Writer's cramp	HP:0002356
3094	HINT1	Weakness of long finger extensor muscles	HP:0009077
3094	HINT1	Myotonia	HP:0002486
3094	HINT1	Impaired vibration sensation in the lower limbs	HP:0002166
3094	HINT1	Fatigable weakness of distal limb muscles	HP:0030198
3094	HINT1	Frequent falls	HP:0002359
3094	HINT1	Distal sensory impairment	HP:0002936
3094	HINT1	Limb fasciculations	HP:0007289
3094	HINT1	Intrinsic hand muscle atrophy	HP:0008954
3094	HINT1	Sensory axonal neuropathy	HP:0003390
3094	HINT1	Thoracic scoliosis	HP:0002943
3097	HIVEP2	Absent speech	HP:0001344
3097	HIVEP2	Feeding difficulties	HP:0011968
3097	HIVEP2	Narrow mouth	HP:0000160
3097	HIVEP2	Intellectual disability	HP:0001249
3097	HIVEP2	Seizures	HP:0001250
3097	HIVEP2	Constipation	HP:0002019
3097	HIVEP2	Anxiety	HP:0000739
3097	HIVEP2	Gastroesophageal reflux	HP:0002020
3097	HIVEP2	Autosomal dominant inheritance	HP:0000006
3097	HIVEP2	Impulsivity	HP:0100710
3097	HIVEP2	Infantile onset	HP:0003593
3097	HIVEP2	Prominent nasal bridge	HP:0000426
3097	HIVEP2	Generalized hypotonia	HP:0001290
3097	HIVEP2	Cerebral atrophy	HP:0002059
3097	HIVEP2	Global developmental delay	HP:0001263
3097	HIVEP2	Abnormal facial shape	HP:0001999
3097	HIVEP2	Wide nasal bridge	HP:0000431
3097	HIVEP2	Hyperactivity	HP:0000752
3097	HIVEP2	Autistic behavior	HP:0000729
3097	HIVEP2	Microcephaly	HP:0000252
3097	HIVEP2	Tapered finger	HP:0001182
3097	HIVEP2	Hypoplasia of the corpus callosum	HP:0002079
85016	CFAP300	Absent inner and outer dynein arms	HP:0012259
85016	CFAP300	Neonatal respiratory distress	HP:0002643
85016	CFAP300	Chronic otitis media	HP:0000389
85016	CFAP300	Conductive hearing impairment	HP:0000405
85016	CFAP300	Recurrent respiratory infections	HP:0002205
85016	CFAP300	Cough	HP:0012735
3098	HK1	Abnormality of the hand	HP:0001155
3098	HK1	Reticulocytosis	HP:0001923
3098	HK1	Autosomal dominant inheritance	HP:0000006
3098	HK1	Autosomal recessive inheritance	HP:0000007
3098	HK1	Nonspherocytic hemolytic anemia	HP:0001930
3098	HK1	Paralysis	HP:0003470
3098	HK1	Peripheral hypomyelination	HP:0007182
3098	HK1	Splenomegaly	HP:0001744
3098	HK1	Abnormality of metabolism/homeostasis	HP:0001939
3098	HK1	Nyctalopia	HP:0000662
3098	HK1	Hyperbilirubinemia	HP:0002904
3098	HK1	Scoliosis	HP:0002650
3098	HK1	Progressive	HP:0003676
3098	HK1	Distal muscle weakness	HP:0002460
3098	HK1	Optic disc pallor	HP:0000543
3098	HK1	Abnormality of the foot	HP:0001760
3098	HK1	Photophobia	HP:0000613
3098	HK1	Peripheral neuropathy	HP:0009830
3098	HK1	Decreased motor nerve conduction velocity	HP:0003431
3098	HK1	Normochromic anemia	HP:0001895
3098	HK1	Macular atrophy	HP:0007401
3098	HK1	Normocytic anemia	HP:0001897
3098	HK1	Constriction of peripheral visual field	HP:0001133
3098	HK1	Reduced visual acuity	HP:0007663
3098	HK1	Hyporeflexia	HP:0001265
3098	HK1	Difficulty walking	HP:0002355
3098	HK1	Jaundice	HP:0000952
3098	HK1	Congenital onset	HP:0003577
3098	HK1	Cholelithiasis	HP:0001081
3098	HK1	Axonal regeneration	HP:0003450
3098	HK1	Cholecystitis	HP:0001082
3098	HK1	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
93210	PGAP3	Intellectual disability	HP:0001249
93210	PGAP3	Seizures	HP:0001250
93210	PGAP3	Upslanted palpebral fissure	HP:0000582
93210	PGAP3	Growth delay	HP:0001510
93210	PGAP3	Broad nasal tip	HP:0000455
93210	PGAP3	Autosomal recessive inheritance	HP:0000007
93210	PGAP3	Infantile onset	HP:0003593
93210	PGAP3	Generalized hypotonia	HP:0001290
93210	PGAP3	Inability to walk	HP:0002540
93210	PGAP3	Cleft palate	HP:0000175
93210	PGAP3	Global developmental delay	HP:0001263
93210	PGAP3	Wide nasal bridge	HP:0000431
93210	PGAP3	Involuntary movements	HP:0004305
93210	PGAP3	Elevated alkaline phosphatase	HP:0003155
93210	PGAP3	Bruxism	HP:0003763
93210	PGAP3	Tented upper lip vermilion	HP:0010804
93210	PGAP3	Thin upper lip vermilion	HP:0000219
93210	PGAP3	Microcephaly	HP:0000252
93210	PGAP3	Hypertelorism	HP:0000316
85021	REPS1	Delayed ability to walk	HP:0031936
85021	REPS1	Cerebellar atrophy	HP:0001272
85021	REPS1	Spasticity	HP:0001257
85021	REPS1	Cerebral atrophy	HP:0002059
85021	REPS1	Dysarthria	HP:0001260
85021	REPS1	Progressive	HP:0003676
85021	REPS1	Loss of ability to walk	HP:0006957
85021	REPS1	Dysmetria	HP:0001310
85021	REPS1	Delayed speech and language development	HP:0000750
85021	REPS1	Hypoplasia of the corpus callosum	HP:0002079
3105	HLA-A	Vitreous floaters	HP:0100832
3105	HLA-A	Ocular hypertension	HP:0007906
3105	HLA-A	Arcuate scotoma	HP:0030530
3105	HLA-A	Attenuation of retinal blood vessels	HP:0007843
3105	HLA-A	Photophobia	HP:0000613
3105	HLA-A	Cataract	HP:0000518
3105	HLA-A	Vitritis	HP:0011531
3105	HLA-A	Blurred vision	HP:0000622
3105	HLA-A	Epiretinal membrane	HP:0100014
3105	HLA-A	Photoreceptor layer loss on macular OCT	HP:0030609
3105	HLA-A	Cystoid macular edema	HP:0011505
3105	HLA-A	Choroidal neovascularization	HP:0011506
3105	HLA-A	Blind-spot enlargment	HP:0030644
3105	HLA-A	Inflammatory abnormality of the eye	HP:0100533
3105	HLA-A	Abnormal chorioretinal morphology	HP:0000532
3105	HLA-A	Macular hole	HP:0011508
3105	HLA-A	Retinal thinning	HP:0030329
3105	HLA-A	Macular scar	HP:0200056
3105	HLA-A	Visual loss	HP:0000572
3105	HLA-A	Retinal detachment	HP:0000541
3105	HLA-A	Optic disc pallor	HP:0000543
3106	HLA-B	Cataract	HP:0000518
3106	HLA-B	Myositis	HP:0100614
3106	HLA-B	Meningitis	HP:0001287
3106	HLA-B	Gait disturbance	HP:0001288
3106	HLA-B	Confusion	HP:0001289
3106	HLA-B	Arthralgia	HP:0002829
3106	HLA-B	Vertigo	HP:0002321
3106	HLA-B	Reduced consciousness/confusion	HP:0004372
3106	HLA-B	Abnormality of the urethra	HP:0000795
3106	HLA-B	Migraine	HP:0002076
3106	HLA-B	Erythema	HP:0010783
3106	HLA-B	Weight loss	HP:0001824
3106	HLA-B	Acne	HP:0001061
3106	HLA-B	Restrictive ventilatory defect	HP:0002091
3106	HLA-B	Pulmonary arterial hypertension	HP:0002092
3106	HLA-B	Muscle weakness	HP:0001324
3106	HLA-B	Dyspnea	HP:0002094
3106	HLA-B	Retrobulbar optic neuritis	HP:0100654
3106	HLA-B	Memory impairment	HP:0002354
3106	HLA-B	Pleuritis	HP:0002102
3106	HLA-B	Abnormality of the pleura	HP:0002103
3106	HLA-B	Hemoptysis	HP:0002105
3106	HLA-B	Dyspareunia	HP:0030016
3106	HLA-B	Pulmonary infiltrates	HP:0002113
3106	HLA-B	Hyperreflexia	HP:0001347
3106	HLA-B	Arterial thrombosis	HP:0004420
3106	HLA-B	Venous thrombosis	HP:0004936
3106	HLA-B	Developmental regression	HP:0002376
3106	HLA-B	Vasculitis	HP:0002633
3106	HLA-B	Paresthesia	HP:0003401
3106	HLA-B	Keratoconjunctivitis sicca	HP:0001097
3106	HLA-B	Cerebral ischemia	HP:0002637
3106	HLA-B	Encephalitis	HP:0002383
3106	HLA-B	Thrombocytopenia	HP:0001873
3106	HLA-B	Abnormality of neutrophils	HP:0001874
3106	HLA-B	Renal insufficiency	HP:0000083
3106	HLA-B	Corneal erosion	HP:0200020
3106	HLA-B	Abnormal pyramidal sign	HP:0007256
3106	HLA-B	Arthritis	HP:0001369
3106	HLA-B	Fatigue	HP:0012378
3106	HLA-B	Elevated hepatic transaminase	HP:0002910
3106	HLA-B	Papule	HP:0200034
3106	HLA-B	Recurrent aphthous stomatitis	HP:0011107
3106	HLA-B	Photophobia	HP:0000613
3106	HLA-B	Abnormal myocardium morphology	HP:0001637
3106	HLA-B	Hypertrophic cardiomyopathy	HP:0001639
3106	HLA-B	Skin ulcer	HP:0200042
3106	HLA-B	Ascending tubular aorta aneurysm	HP:0004970
3106	HLA-B	Blindness	HP:0000618
3106	HLA-B	Entropion	HP:0000621
3106	HLA-B	Sudden cardiac death	HP:0001645
3106	HLA-B	Abnormal aortic valve morphology	HP:0001646
3106	HLA-B	Anemia	HP:0001903
3106	HLA-B	Mitral regurgitation	HP:0001653
3106	HLA-B	Neurological speech impairment	HP:0002167
3106	HLA-B	Myocardial infarction	HP:0001658
3106	HLA-B	Aortic regurgitation	HP:0001659
3106	HLA-B	Gastrointestinal infarctions	HP:0005244
3106	HLA-B	Hypertensive crisis	HP:0100735
3106	HLA-B	Abnormal blistering of the skin	HP:0008066
3106	HLA-B	Avascular necrosis	HP:0010885
3106	HLA-B	Chest pain	HP:0100749
3106	HLA-B	Gangrene	HP:0100758
3106	HLA-B	Fever	HP:0001945
3106	HLA-B	Acute hepatic failure	HP:0006554
3106	HLA-B	Pleural effusion	HP:0002202
3106	HLA-B	Oral ulcer	HP:0000155
3106	HLA-B	Lymphadenopathy	HP:0002716
3106	HLA-B	Pulmonary embolism	HP:0002204
3106	HLA-B	Recurrent respiratory infections	HP:0002205
3106	HLA-B	Pericarditis	HP:0001701
3106	HLA-B	Dysuria	HP:0100518
3106	HLA-B	Hypokalemic metabolic alkalosis	HP:0001960
3106	HLA-B	Cranial nerve paralysis	HP:0006824
3106	HLA-B	Inflammatory abnormality of the eye	HP:0100533
3106	HLA-B	Acantholysis	HP:0100792
3106	HLA-B	Macule	HP:0012733
3106	HLA-B	Orchitis	HP:0100796
3106	HLA-B	Gastrointestinal hemorrhage	HP:0002239
3106	HLA-B	Cough	HP:0012735
3106	HLA-B	Excessive salivation	HP:0003781
3106	HLA-B	Pancreatitis	HP:0001733
3106	HLA-B	Sepsis	HP:0100806
3106	HLA-B	Subcutaneous nodule	HP:0001482
3106	HLA-B	Hyperhidrosis	HP:0000975
3106	HLA-B	Splenomegaly	HP:0001744
3106	HLA-B	Abnormal endocardium morphology	HP:0004306
3106	HLA-B	Increased intracranial pressure	HP:0002516
3106	HLA-B	Glomerulopathy	HP:0100820
3106	HLA-B	Diarrhea	HP:0002014
3106	HLA-B	Dysphagia	HP:0002015
3106	HLA-B	Nausea and vomiting	HP:0002017
3106	HLA-B	Amaurosis fugax	HP:0100576
3106	HLA-B	Irritability	HP:0000737
3106	HLA-B	Seizures	HP:0001250
3106	HLA-B	Ataxia	HP:0001251
3106	HLA-B	Immunologic hypersensitivity	HP:0100326
3106	HLA-B	Retinopathy	HP:0000488
3106	HLA-B	Malabsorption	HP:0002024
3106	HLA-B	Abnormal pattern of respiration	HP:0002793
3106	HLA-B	Endocarditis	HP:0100584
3106	HLA-B	Abdominal pain	HP:0002027
3106	HLA-B	Hemiparesis	HP:0001269
3106	HLA-B	Anorexia	HP:0002039
3106	HLA-B	Visual impairment	HP:0000505
3106	HLA-B	Esophageal stricture	HP:0002043
3106	HLA-B	Conjunctivitis	HP:0000509
3106	HLA-B	Myalgia	HP:0003326
199713	NLRP7	Hydatidiform mole	HP:0032192
199713	NLRP7	Autosomal recessive inheritance	HP:0000007
199713	NLRP7	Abnormality of the genitourinary system	HP:0000119
125988	MICOS13	Intellectual disability	HP:0001249
125988	MICOS13	Choreoathetosis	HP:0001266
125988	MICOS13	Ataxia	HP:0001251
125988	MICOS13	Gait disturbance	HP:0001288
125988	MICOS13	Spastic paraparesis	HP:0002313
125988	MICOS13	Visual impairment	HP:0000505
125988	MICOS13	Dysarthria	HP:0001260
125988	MICOS13	Nystagmus	HP:0000639
125988	MICOS13	3-Methylglutaconic aciduria	HP:0003535
3110	MNX1	Septate vagina	HP:0001153
3110	MNX1	Presacral teratoma	HP:0009793
3110	MNX1	Abnormal intestine morphology	HP:0002242
3110	MNX1	Aplasia/Hypoplasia of the sacrum	HP:0008517
3110	MNX1	Autosomal dominant inheritance	HP:0000006
3110	MNX1	Abdominal distention	HP:0003270
3110	MNX1	Sepsis	HP:0100806
3110	MNX1	Recurrent urinary tract infections	HP:0000010
3110	MNX1	Neurogenic bladder	HP:0000011
3110	MNX1	Vesicoureteral reflux	HP:0000076
3110	MNX1	Lower limb asymmetry	HP:0100559
3110	MNX1	Rectovaginal fistula	HP:0000143
3110	MNX1	Anal fistula	HP:0010447
3110	MNX1	Sacrococcygeal teratoma	HP:0030736
3110	MNX1	Urinary incontinence	HP:0000020
3110	MNX1	Horseshoe kidney	HP:0000085
3110	MNX1	Hypoplasia of penis	HP:0008736
3110	MNX1	Tethered cord	HP:0002144
3110	MNX1	Chronic constipation	HP:0012450
3110	MNX1	Male pseudohermaphroditism	HP:0000037
3110	MNX1	Anal atresia	HP:0002023
3110	MNX1	Anal stenosis	HP:0002025
3110	MNX1	Bicornuate uterus	HP:0000813
3110	MNX1	Hypospadias	HP:0000047
3110	MNX1	Global developmental delay	HP:0001263
3110	MNX1	Bifid scrotum	HP:0000048
3110	MNX1	Incomplete penetrance	HP:0003829
3110	MNX1	Dilatation	HP:0002617
3110	MNX1	Arteriovenous malformation	HP:0100026
3110	MNX1	Gastrointestinal obstruction	HP:0004796
3110	MNX1	Anterior sacral meningocele	HP:0007293
3110	MNX1	Perianal abscess	HP:0009789
3110	MNX1	Hemisacrum	HP:0009790
3110	MNX1	Bifid sacrum	HP:0009791
3113	HLA-DPA1	Chronic otitis media	HP:0000389
3113	HLA-DPA1	Recurrent intrapulmonary hemorrhage	HP:0006535
3113	HLA-DPA1	Meningitis	HP:0001287
3113	HLA-DPA1	Proptosis	HP:0000520
3113	HLA-DPA1	Granulomatosis	HP:0002955
3113	HLA-DPA1	Headache	HP:0002315
3113	HLA-DPA1	Chest pain	HP:0100749
3113	HLA-DPA1	Arthralgia	HP:0002829
3113	HLA-DPA1	Autoimmunity	HP:0002960
3113	HLA-DPA1	Angina pectoris	HP:0001681
3113	HLA-DPA1	Hematuria	HP:0000790
3113	HLA-DPA1	Sensorineural hearing impairment	HP:0000407
3113	HLA-DPA1	Gangrene	HP:0100758
3113	HLA-DPA1	Prostatitis	HP:0000024
3113	HLA-DPA1	Fever	HP:0001945
3113	HLA-DPA1	Arrhythmia	HP:0011675
3113	HLA-DPA1	Recurrent respiratory infections	HP:0002205
3113	HLA-DPA1	Pulmonary fibrosis	HP:0002206
3113	HLA-DPA1	Weight loss	HP:0001824
3113	HLA-DPA1	Abnormal oral cavity morphology	HP:0000163
3113	HLA-DPA1	Pericarditis	HP:0001701
3113	HLA-DPA1	Epistaxis	HP:0000421
3113	HLA-DPA1	Cranial nerve paralysis	HP:0006824
3113	HLA-DPA1	Restrictive ventilatory defect	HP:0002091
3113	HLA-DPA1	Respiratory insufficiency	HP:0002093
3113	HLA-DPA1	Inflammatory abnormality of the eye	HP:0100533
3113	HLA-DPA1	Hypertension	HP:0000822
3113	HLA-DPA1	Pleuritis	HP:0002102
3113	HLA-DPA1	Hemoptysis	HP:0002105
3113	HLA-DPA1	Periorbital edema	HP:0100539
3113	HLA-DPA1	Gastrointestinal hemorrhage	HP:0002239
3113	HLA-DPA1	Cough	HP:0012735
3113	HLA-DPA1	Pulmonary infiltrates	HP:0002113
3113	HLA-DPA1	Pancreatitis	HP:0001733
3113	HLA-DPA1	Ureteral stenosis	HP:0000071
3113	HLA-DPA1	Venous thrombosis	HP:0004936
3113	HLA-DPA1	Vasculitis	HP:0002633
3113	HLA-DPA1	Cerebral ischemia	HP:0002637
3113	HLA-DPA1	Purpura	HP:0000979
3113	HLA-DPA1	Renal insufficiency	HP:0000083
3113	HLA-DPA1	Glomerulopathy	HP:0100820
3113	HLA-DPA1	Fatigue	HP:0012378
3113	HLA-DPA1	Elevated C-reactive protein level	HP:0011227
3113	HLA-DPA1	Skin rash	HP:0000988
3113	HLA-DPA1	Proteinuria	HP:0000093
3113	HLA-DPA1	Intestinal obstruction	HP:0005214
3113	HLA-DPA1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
3113	HLA-DPA1	Papule	HP:0200034
3113	HLA-DPA1	Nausea and vomiting	HP:0002017
3113	HLA-DPA1	Seizures	HP:0001250
3113	HLA-DPA1	Retinopathy	HP:0000488
3113	HLA-DPA1	Skin ulcer	HP:0200042
3113	HLA-DPA1	Diabetes insipidus	HP:0000873
3113	HLA-DPA1	Abdominal pain	HP:0002027
3113	HLA-DPA1	Elevated erythrocyte sedimentation rate	HP:0003565
3113	HLA-DPA1	Chronic obstructive pulmonary disease	HP:0006510
3113	HLA-DPA1	Sinusitis	HP:0000246
3113	HLA-DPA1	Visual impairment	HP:0000505
3113	HLA-DPA1	Sensory neuropathy	HP:0000763
3113	HLA-DPA1	Hemiplegia	HP:0002301
3113	HLA-DPA1	Hydronephrosis	HP:0000126
3113	HLA-DPA1	Myalgia	HP:0003326
3115	HLA-DPB1	Chronic otitis media	HP:0000389
3115	HLA-DPB1	Recurrent intrapulmonary hemorrhage	HP:0006535
3115	HLA-DPB1	Meningitis	HP:0001287
3115	HLA-DPB1	Proptosis	HP:0000520
3115	HLA-DPB1	Granulomatosis	HP:0002955
3115	HLA-DPB1	Headache	HP:0002315
3115	HLA-DPB1	Chest pain	HP:0100749
3115	HLA-DPB1	Arthralgia	HP:0002829
3115	HLA-DPB1	Autoimmunity	HP:0002960
3115	HLA-DPB1	Angina pectoris	HP:0001681
3115	HLA-DPB1	Hematuria	HP:0000790
3115	HLA-DPB1	Sensorineural hearing impairment	HP:0000407
3115	HLA-DPB1	Gangrene	HP:0100758
3115	HLA-DPB1	Prostatitis	HP:0000024
3115	HLA-DPB1	Fever	HP:0001945
3115	HLA-DPB1	Arrhythmia	HP:0011675
3115	HLA-DPB1	Recurrent respiratory infections	HP:0002205
3115	HLA-DPB1	Pulmonary fibrosis	HP:0002206
3115	HLA-DPB1	Weight loss	HP:0001824
3115	HLA-DPB1	Abnormal oral cavity morphology	HP:0000163
3115	HLA-DPB1	Pericarditis	HP:0001701
3115	HLA-DPB1	Epistaxis	HP:0000421
3115	HLA-DPB1	Cranial nerve paralysis	HP:0006824
3115	HLA-DPB1	Restrictive ventilatory defect	HP:0002091
3115	HLA-DPB1	Respiratory insufficiency	HP:0002093
3115	HLA-DPB1	Inflammatory abnormality of the eye	HP:0100533
3115	HLA-DPB1	Hypertension	HP:0000822
3115	HLA-DPB1	Pleuritis	HP:0002102
3115	HLA-DPB1	Hemoptysis	HP:0002105
3115	HLA-DPB1	Periorbital edema	HP:0100539
3115	HLA-DPB1	Gastrointestinal hemorrhage	HP:0002239
3115	HLA-DPB1	Cough	HP:0012735
3115	HLA-DPB1	Pulmonary infiltrates	HP:0002113
3115	HLA-DPB1	Pancreatitis	HP:0001733
3115	HLA-DPB1	Ureteral stenosis	HP:0000071
3115	HLA-DPB1	Venous thrombosis	HP:0004936
3115	HLA-DPB1	Vasculitis	HP:0002633
3115	HLA-DPB1	Cerebral ischemia	HP:0002637
3115	HLA-DPB1	Purpura	HP:0000979
3115	HLA-DPB1	Renal insufficiency	HP:0000083
3115	HLA-DPB1	Glomerulopathy	HP:0100820
3115	HLA-DPB1	Fatigue	HP:0012378
3115	HLA-DPB1	Elevated C-reactive protein level	HP:0011227
3115	HLA-DPB1	Skin rash	HP:0000988
3115	HLA-DPB1	Proteinuria	HP:0000093
3115	HLA-DPB1	Intestinal obstruction	HP:0005214
3115	HLA-DPB1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
3115	HLA-DPB1	Papule	HP:0200034
3115	HLA-DPB1	Nausea and vomiting	HP:0002017
3115	HLA-DPB1	Seizures	HP:0001250
3115	HLA-DPB1	Retinopathy	HP:0000488
3115	HLA-DPB1	Skin ulcer	HP:0200042
3115	HLA-DPB1	Diabetes insipidus	HP:0000873
3115	HLA-DPB1	Abdominal pain	HP:0002027
3115	HLA-DPB1	Elevated erythrocyte sedimentation rate	HP:0003565
3115	HLA-DPB1	Chronic obstructive pulmonary disease	HP:0006510
3115	HLA-DPB1	Sinusitis	HP:0000246
3115	HLA-DPB1	Visual impairment	HP:0000505
3115	HLA-DPB1	Sensory neuropathy	HP:0000763
3115	HLA-DPB1	Hemiplegia	HP:0002301
3115	HLA-DPB1	Hydronephrosis	HP:0000126
3115	HLA-DPB1	Myalgia	HP:0003326
3117	HLA-DQA1	Achalasia	HP:0002571
11311	VPS45	Hepatomegaly	HP:0002240
11311	VPS45	Failure to thrive	HP:0001508
11311	VPS45	Autosomal recessive inheritance	HP:0000007
11311	VPS45	Infantile onset	HP:0003593
11311	VPS45	Increased antibody level in blood	HP:0010702
11311	VPS45	Anemia	HP:0001903
11311	VPS45	Global developmental delay	HP:0001263
11311	VPS45	Splenomegaly	HP:0001744
11311	VPS45	Thrombocytopenia	HP:0001873
11311	VPS45	Neutropenia	HP:0001875
11311	VPS45	Extramedullary hematopoiesis	HP:0001978
11311	VPS45	Leukopenia	HP:0001882
11311	VPS45	Recurrent infections	HP:0002719
3119	HLA-DQB1	Weight loss	HP:0001824
3119	HLA-DQB1	Urticaria	HP:0001025
3119	HLA-DQB1	Hallucinations	HP:0000738
3119	HLA-DQB1	Abnormal blistering of the skin	HP:0008066
3119	HLA-DQB1	Eczema	HP:0000964
3119	HLA-DQB1	Transient global amnesia	HP:0010534
3119	HLA-DQB1	Slurred speech	HP:0001350
3119	HLA-DQB1	Obesity	HP:0001513
3119	HLA-DQB1	Achalasia	HP:0002571
3119	HLA-DQB1	Excessive daytime sleepiness	HP:0002189
3119	HLA-DQB1	Excessive daytime somnolence	HP:0001262
3119	HLA-DQB1	Insomnia	HP:0100785
3119	HLA-DQB1	Autoimmunity	HP:0002960
3119	HLA-DQB1	Diabetes mellitus	HP:0000819
3119	HLA-DQB1	Psoriasiform dermatitis	HP:0003765
3119	HLA-DQB1	Abnormality of vision	HP:0000504
3119	HLA-DQB1	Cataplexy	HP:0002524
3119	HLA-DQB1	Macule	HP:0012733
3119	HLA-DQB1	Abnormal rapid eye movement sleep	HP:0002494
3119	HLA-DQB1	Syncope	HP:0001279
3119	HLA-DQB1	Erythema	HP:0010783
3119	HLA-DQB1	Recurrent infections	HP:0002719
93233	CCDC114	Absent outer dynein arms	HP:0012256
93233	CCDC114	Situs inversus totalis	HP:0001696
93233	CCDC114	Recurrent sinusitis	HP:0011108
93233	CCDC114	Recurrent pneumonia	HP:0006532
93233	CCDC114	Autosomal recessive inheritance	HP:0000007
93233	CCDC114	Ciliary dyskinesia	HP:0012265
93233	CCDC114	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
93233	CCDC114	Atelectasis	HP:0100750
93233	CCDC114	Recurrent otitis media	HP:0000403
93233	CCDC114	Rhinorrhea	HP:0031417
93233	CCDC114	Recurrent respiratory infections	HP:0002205
93233	CCDC114	Bronchiectasis	HP:0002110
93233	CCDC114	Cough	HP:0012735
3122	HLA-DRA	Sparse scalp hair	HP:0002209
3122	HLA-DRA	Sparse pubic hair	HP:0002225
3122	HLA-DRA	Lichenification	HP:0100725
3122	HLA-DRA	Sparse axillary hair	HP:0002215
3122	HLA-DRA	Alopecia	HP:0001596
3122	HLA-DRA	Perifollicular hyperkeratosis	HP:0007468
3122	HLA-DRA	Pruritus	HP:0000989
3123	HLA-DRB1	Hypercalcemia	HP:0003072
3123	HLA-DRB1	Joint contracture of the hand	HP:0009473
3123	HLA-DRB1	Urticaria	HP:0001025
3123	HLA-DRB1	Cataract	HP:0000518
3123	HLA-DRB1	Meningitis	HP:0001287
3123	HLA-DRB1	Arthralgia	HP:0002829
3123	HLA-DRB1	Abnormality of the gastrointestinal tract	HP:0011024
3123	HLA-DRB1	Nephrolithiasis	HP:0000787
3123	HLA-DRB1	Abnormality of the peritoneum	HP:0002585
3123	HLA-DRB1	Enlargement of parotid gland	HP:0011801
3123	HLA-DRB1	Hypopigmented skin patches	HP:0001053
3123	HLA-DRB1	Bone cyst	HP:0012062
3123	HLA-DRB1	Erythema	HP:0010783
3123	HLA-DRB1	Weight loss	HP:0001824
3123	HLA-DRB1	Transient global amnesia	HP:0010534
3123	HLA-DRB1	Uveitis	HP:0000554
3123	HLA-DRB1	Pulmonary arterial hypertension	HP:0002092
3123	HLA-DRB1	Muscle weakness	HP:0001324
3123	HLA-DRB1	Dyspnea	HP:0002094
3123	HLA-DRB1	Juvenile rheumatoid arthritis	HP:0005681
3123	HLA-DRB1	Emphysema	HP:0002097
3123	HLA-DRB1	Diabetes mellitus	HP:0000819
3123	HLA-DRB1	Hypothyroidism	HP:0000821
3123	HLA-DRB1	Enlarged lacrimal glands	HP:0007734
3123	HLA-DRB1	Hemoptysis	HP:0002105
3123	HLA-DRB1	Pneumothorax	HP:0002107
3123	HLA-DRB1	Alopecia	HP:0001596
3123	HLA-DRB1	Bronchiectasis	HP:0002110
3123	HLA-DRB1	Dyspareunia	HP:0030016
3123	HLA-DRB1	Pulmonary infiltrates	HP:0002113
3123	HLA-DRB1	Abnormality of the adrenal glands	HP:0000834
3123	HLA-DRB1	Hyperthyroidism	HP:0000836
3123	HLA-DRB1	Slurred speech	HP:0001350
3123	HLA-DRB1	Chylothorax	HP:0010310
3123	HLA-DRB1	Keratoconjunctivitis sicca	HP:0001097
3123	HLA-DRB1	Parotitis	HP:0011850
3123	HLA-DRB1	Thrombocytopenia	HP:0001873
3123	HLA-DRB1	Renal insufficiency	HP:0000083
3123	HLA-DRB1	Hemolytic anemia	HP:0001878
3123	HLA-DRB1	Eosinophilia	HP:0001880
3123	HLA-DRB1	Arthritis	HP:0001369
3123	HLA-DRB1	Anterior uveitis	HP:0012122
3123	HLA-DRB1	Fatigue	HP:0012378
3123	HLA-DRB1	Scarring	HP:0100699
3123	HLA-DRB1	Leukopenia	HP:0001882
3123	HLA-DRB1	Flexion contracture	HP:0001371
3123	HLA-DRB1	Narrow foramen obturatorium	HP:0100958
3123	HLA-DRB1	Skin plaque	HP:0200035
3123	HLA-DRB1	Congestive heart failure	HP:0001635
3123	HLA-DRB1	Peripheral neuropathy	HP:0009830
3123	HLA-DRB1	Hypercalciuria	HP:0002150
3123	HLA-DRB1	Skin nodule	HP:0200036
3123	HLA-DRB1	Lymphoma	HP:0002665
3123	HLA-DRB1	Skin ulcer	HP:0200042
3123	HLA-DRB1	Diabetes insipidus	HP:0000873
3123	HLA-DRB1	Joint swelling	HP:0001386
3123	HLA-DRB1	Blindness	HP:0000618
3123	HLA-DRB1	Increased CSF protein	HP:0002922
3123	HLA-DRB1	Dacryocystitis	HP:0000620
3123	HLA-DRB1	Mediastinal lymphadenopathy	HP:0100721
3123	HLA-DRB1	Proximal muscle weakness	HP:0003701
3123	HLA-DRB1	Hepatic failure	HP:0001399
3123	HLA-DRB1	Nephrocalcinosis	HP:0000121
3123	HLA-DRB1	Hypertensive crisis	HP:0100735
3123	HLA-DRB1	Portal hypertension	HP:0001409
3123	HLA-DRB1	Abnormal blistering of the skin	HP:0008066
3123	HLA-DRB1	Facial palsy	HP:0010628
3123	HLA-DRB1	Chest pain	HP:0100749
3123	HLA-DRB1	Excessive daytime sleepiness	HP:0002189
3123	HLA-DRB1	Autoimmunity	HP:0002960
3123	HLA-DRB1	Ventricular tachycardia	HP:0004756
3123	HLA-DRB1	Abnormal cardiac ventricular function	HP:0030872
3123	HLA-DRB1	Fever	HP:0001945
3123	HLA-DRB1	Pleural effusion	HP:0002202
3123	HLA-DRB1	Lymphadenopathy	HP:0002716
3123	HLA-DRB1	Pulmonary fibrosis	HP:0002206
3123	HLA-DRB1	Carious teeth	HP:0000670
3123	HLA-DRB1	Recurrent infections	HP:0002719
3123	HLA-DRB1	Pericarditis	HP:0001701
3123	HLA-DRB1	Oliguria	HP:0100520
3123	HLA-DRB1	Contractures involving the joints of the feet	HP:0008366
3123	HLA-DRB1	Insomnia	HP:0100785
3123	HLA-DRB1	Abnormality of the nasal mucosa	HP:0000433
3123	HLA-DRB1	Heart block	HP:0012722
3123	HLA-DRB1	Tubulointerstitial nephritis	HP:0001970
3123	HLA-DRB1	Psoriasiform dermatitis	HP:0003765
3123	HLA-DRB1	Hyperpigmentation of the skin	HP:0000953
3123	HLA-DRB1	Erythema nodosum	HP:0012219
3123	HLA-DRB1	Macule	HP:0012733
3123	HLA-DRB1	Abnormal rapid eye movement sleep	HP:0002494
3123	HLA-DRB1	Abnormal bowel sounds	HP:0030142
3123	HLA-DRB1	Cough	HP:0012735
3123	HLA-DRB1	Hepatomegaly	HP:0002240
3123	HLA-DRB1	Abnormal liver parenchyma morphology	HP:0030146
3123	HLA-DRB1	Eczema	HP:0000964
3123	HLA-DRB1	Subcutaneous nodule	HP:0001482
3123	HLA-DRB1	Splenomegaly	HP:0001744
3123	HLA-DRB1	Abnormal reproductive system morphology	HP:0012243
3123	HLA-DRB1	Night sweats	HP:0030166
3123	HLA-DRB1	Xerostomia	HP:0000217
3123	HLA-DRB1	Elevated C-reactive protein level	HP:0011227
3123	HLA-DRB1	Skin rash	HP:0000988
3123	HLA-DRB1	Cataplexy	HP:0002524
3123	HLA-DRB1	Increased T cell count	HP:0100828
3123	HLA-DRB1	Upper airway obstruction	HP:0002781
3123	HLA-DRB1	Dysphagia	HP:0002015
3123	HLA-DRB1	Nausea and vomiting	HP:0002017
3123	HLA-DRB1	Mucosal telangiectasiae	HP:0100579
3123	HLA-DRB1	Hallucinations	HP:0000738
3123	HLA-DRB1	Gastroesophageal reflux	HP:0002020
3123	HLA-DRB1	Telangiectasia of the skin	HP:0100585
3123	HLA-DRB1	Malabsorption	HP:0002024
3123	HLA-DRB1	Obesity	HP:0001513
3123	HLA-DRB1	Abdominal pain	HP:0002027
3123	HLA-DRB1	Lymphedema	HP:0001004
3123	HLA-DRB1	Elevated erythrocyte sedimentation rate	HP:0003565
3123	HLA-DRB1	Osteolysis	HP:0002797
3123	HLA-DRB1	Excessive daytime somnolence	HP:0001262
3123	HLA-DRB1	Hypopigmentation of the skin	HP:0001010
3123	HLA-DRB1	Glaucoma	HP:0000501
3123	HLA-DRB1	Abnormality of vision	HP:0000504
3123	HLA-DRB1	Maculopapular exanthema	HP:0040186
3123	HLA-DRB1	Hypothermia	HP:0002045
3123	HLA-DRB1	Syncope	HP:0001279
11315	PARK7	Resting tremor	HP:0002322
11315	PARK7	Anxiety	HP:0000739
11315	PARK7	Blepharospasm	HP:0000643
11315	PARK7	Bradykinesia	HP:0002067
11315	PARK7	Psychotic episodes	HP:0000725
11315	PARK7	Autosomal recessive inheritance	HP:0000007
11315	PARK7	Slow progression	HP:0003677
11315	PARK7	Adult onset	HP:0003581
11315	PARK7	Postural tremor	HP:0002174
11315	PARK7	Rigidity	HP:0002063
11322	TMC6	Skin plaque	HP:0200035
11322	TMC6	Papule	HP:0200034
11322	TMC6	Abnormality of metabolism/homeostasis	HP:0001939
11322	TMC6	Pustule	HP:0200039
11322	TMC6	Verrucae	HP:0200043
11322	TMC6	Telangiectasia of the skin	HP:0100585
11322	TMC6	Seborrheic dermatitis	HP:0001051
11322	TMC6	Squamous cell carcinoma	HP:0002860
11322	TMC6	Multiple cafe-au-lait spots	HP:0007565
11322	TMC6	Recurrent skin infections	HP:0001581
11322	TMC6	Hypopigmented skin patches	HP:0001053
11322	TMC6	Basal cell carcinoma	HP:0002671
60481	ELOVL5	Slow saccadic eye movements	HP:0000514
60481	ELOVL5	Behavioral abnormality	HP:0000708
60481	ELOVL5	Autosomal dominant inheritance	HP:0000006
60481	ELOVL5	Dysarthria	HP:0001260
60481	ELOVL5	Gait ataxia	HP:0002066
60481	ELOVL5	Sensory impairment	HP:0003474
60481	ELOVL5	Difficulty walking	HP:0002355
60481	ELOVL5	Peripheral axonal neuropathy	HP:0003477
60481	ELOVL5	Limb ataxia	HP:0002070
60481	ELOVL5	Cerebellar atrophy	HP:0001272
60481	ELOVL5	Tremor	HP:0001337
60481	ELOVL5	Distal muscle weakness	HP:0002460
60481	ELOVL5	Slow progression	HP:0003677
60481	ELOVL5	Nystagmus	HP:0000639
60482	SLC5A7	Pectus carinatum	HP:0000768
60482	SLC5A7	Narrow jaw	HP:0012801
60482	SLC5A7	EMG: myopathic abnormalities	HP:0003458
60482	SLC5A7	Bulbar palsy	HP:0001283
60482	SLC5A7	Facial palsy	HP:0010628
60482	SLC5A7	Areflexia	HP:0001284
60482	SLC5A7	Central hypotonia	HP:0011398
60482	SLC5A7	Autosomal dominant inheritance	HP:0000006
60482	SLC5A7	Autosomal recessive inheritance	HP:0000007
60482	SLC5A7	Generalized hypotonia	HP:0001290
60482	SLC5A7	Motor polyneuropathy	HP:0007178
60482	SLC5A7	Diplopia	HP:0000651
60482	SLC5A7	Fatigable weakness	HP:0003473
60482	SLC5A7	Toe walking	HP:0040083
60482	SLC5A7	Long face	HP:0000276
60482	SLC5A7	Episodic respiratory distress	HP:0004885
60482	SLC5A7	Decreased fetal movement	HP:0001558
60482	SLC5A7	Sensorineural hearing impairment	HP:0000407
60482	SLC5A7	Polyhydramnios	HP:0001561
60482	SLC5A7	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
60482	SLC5A7	Distal muscle weakness	HP:0002460
60482	SLC5A7	Recurrent respiratory infections	HP:0002205
60482	SLC5A7	Central sleep apnea	HP:0010536
60482	SLC5A7	Difficulty walking	HP:0002355
60482	SLC5A7	Microretrognathia	HP:0000308
60482	SLC5A7	Esotropia	HP:0000565
60482	SLC5A7	Frontalis muscle weakness	HP:0004661
60482	SLC5A7	Obstructive sleep apnea	HP:0002870
60482	SLC5A7	Respiratory arrest	HP:0005943
60482	SLC5A7	Apnea	HP:0002104
60482	SLC5A7	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
60482	SLC5A7	Staring gaze	HP:0025401
60482	SLC5A7	Tremor	HP:0001337
60482	SLC5A7	Easy fatigability	HP:0003388
60482	SLC5A7	EMG: impaired neuromuscular transmission	HP:0100285
60482	SLC5A7	Cognitive impairment	HP:0100543
60482	SLC5A7	Kyphoscoliosis	HP:0002751
60482	SLC5A7	Delayed ability to walk	HP:0031936
60482	SLC5A7	Cyanosis	HP:0000961
60482	SLC5A7	Sudden episodic apnea	HP:0002882
60482	SLC5A7	Stridor	HP:0010307
60482	SLC5A7	Vocal cord paresis	HP:0001604
60482	SLC5A7	Vocal cord paralysis	HP:0001605
60482	SLC5A7	Muscle fiber atrophy	HP:0100295
60482	SLC5A7	Nasal speech	HP:0001611
60482	SLC5A7	Weak cry	HP:0001612
60482	SLC5A7	Nasal regurgitation	HP:0011469
60482	SLC5A7	Dysphonia	HP:0001618
60482	SLC5A7	Neck muscle weakness	HP:0000467
60482	SLC5A7	Waddling gait	HP:0002515
60482	SLC5A7	Ophthalmoparesis	HP:0000597
60482	SLC5A7	EEG with polyspike wave complexes	HP:0002392
60482	SLC5A7	Scoliosis	HP:0002650
60482	SLC5A7	High palate	HP:0000218
60482	SLC5A7	Ophthalmoplegia	HP:0000602
60482	SLC5A7	Onset	HP:0003674
60482	SLC5A7	Distal lower limb muscle weakness	HP:0009053
60482	SLC5A7	Slow progression	HP:0003677
60482	SLC5A7	Congenital hip dislocation	HP:0001374
60482	SLC5A7	Dysphagia	HP:0002015
60482	SLC5A7	Pes cavus	HP:0001761
60482	SLC5A7	Intellectual disability	HP:0001249
60482	SLC5A7	Seizures	HP:0001250
60482	SLC5A7	Ataxia	HP:0001251
60482	SLC5A7	Gastroesophageal reflux	HP:0002020
60482	SLC5A7	Peripheral neuropathy	HP:0009830
60482	SLC5A7	Hypoventilation	HP:0002791
60482	SLC5A7	Spinal rigidity	HP:0003306
60482	SLC5A7	Joint laxity	HP:0001388
60482	SLC5A7	Distal amyotrophy	HP:0003693
60482	SLC5A7	Poor suck	HP:0002033
60482	SLC5A7	Low-set ears	HP:0000369
60482	SLC5A7	Hyporeflexia	HP:0001265
60482	SLC5A7	Arthrogryposis multiplex congenita	HP:0002804
60482	SLC5A7	Variable expressivity	HP:0003828
60482	SLC5A7	Proximal muscle weakness	HP:0003701
60482	SLC5A7	Poor head control	HP:0002421
60482	SLC5A7	Motor delay	HP:0001270
60482	SLC5A7	Kyphosis	HP:0002808
60482	SLC5A7	Choking episodes	HP:0030842
60482	SLC5A7	Spinal deformities	HP:0008443
60482	SLC5A7	Ptosis	HP:0000508
60482	SLC5A7	Generalized muscle weakness	HP:0003324
60482	SLC5A7	Limb-girdle muscle weakness	HP:0003325
60482	SLC5A7	Nystagmus	HP:0000639
11330	CTRC	Diabetes mellitus	HP:0000819
11330	CTRC	Leukocytosis	HP:0001974
11330	CTRC	Splanchnic vein thrombosis	HP:0030247
11330	CTRC	Jaundice	HP:0000952
11330	CTRC	Recurrent pancreatitis	HP:0100027
11330	CTRC	Elevated C-reactive protein level	HP:0011227
11330	CTRC	Abdominal pain	HP:0002027
11330	CTRC	Abnormal enzyme/coenzyme activity	HP:0012379
11330	CTRC	Pancreatic calcification	HP:0005213
3141	HLCS	Hyperammonemia	HP:0001987
3141	HLCS	Hyperventilation	HP:0002883
3141	HLCS	Autosomal recessive inheritance	HP:0000007
3141	HLCS	Organic aciduria	HP:0001992
3141	HLCS	Keratoconjunctivitis	HP:0001096
3141	HLCS	Generalized hypotonia	HP:0001290
3141	HLCS	Thrombocytopenia	HP:0001873
3141	HLCS	Metabolic acidosis	HP:0001942
3141	HLCS	Skin rash	HP:0000988
3141	HLCS	Vomiting	HP:0002013
3141	HLCS	Weight loss	HP:0001824
3141	HLCS	Irritability	HP:0000737
3141	HLCS	Nausea and vomiting	HP:0002017
3141	HLCS	Seizures	HP:0001250
3141	HLCS	Ataxia	HP:0001251
3141	HLCS	Muscular hypotonia	HP:0001252
3141	HLCS	Tachypnea	HP:0002789
3141	HLCS	Lethargy	HP:0001254
3141	HLCS	Growth delay	HP:0001510
3141	HLCS	Feeding difficulties in infancy	HP:0008872
3141	HLCS	Coma	HP:0001259
3141	HLCS	Global developmental delay	HP:0001263
3141	HLCS	Respiratory distress	HP:0002098
3141	HLCS	Perioral eczema	HP:0011127
3141	HLCS	Anorexia	HP:0002039
3141	HLCS	Hypertonia	HP:0001276
3141	HLCS	Alopecia	HP:0001596
3141	HLCS	Desquamation of skin soon after birth	HP:0007549
134218	DNAJC21	Pectus carinatum	HP:0000768
134218	DNAJC21	Ichthyosis	HP:0008064
134218	DNAJC21	Persistence of hemoglobin F	HP:0011904
134218	DNAJC21	Small nail	HP:0001792
134218	DNAJC21	Narrow chest	HP:0000774
134218	DNAJC21	Autosomal recessive inheritance	HP:0000007
134218	DNAJC21	Gait disturbance	HP:0001288
134218	DNAJC21	Generalized hypotonia	HP:0001290
134218	DNAJC21	Steatorrhea	HP:0002570
134218	DNAJC21	Anterior rib cupping	HP:0000907
134218	DNAJC21	Bone marrow hypocellularity	HP:0005528
134218	DNAJC21	Enlargement of the costochondral junction	HP:0000920
134218	DNAJC21	Hypoplasia of dental enamel	HP:0006297
134218	DNAJC21	Hypermetropia	HP:0000540
134218	DNAJC21	Hypodontia	HP:0000668
134218	DNAJC21	Carious teeth	HP:0000670
134218	DNAJC21	Metaphyseal dysplasia	HP:0100255
134218	DNAJC21	Epicanthus	HP:0000286
134218	DNAJC21	Recurrent infections	HP:0002719
134218	DNAJC21	Myopia	HP:0000545
134218	DNAJC21	Myocardial necrosis	HP:0001700
134218	DNAJC21	Type I diabetes mellitus	HP:0100651
134218	DNAJC21	Osteopenia	HP:0000938
134218	DNAJC21	Retinal dystrophy	HP:0000556
134218	DNAJC21	Myelodysplasia	HP:0002863
134218	DNAJC21	Abnormality of the metaphysis	HP:0000944
134218	DNAJC21	Specific learning disability	HP:0001328
134218	DNAJC21	Microdontia	HP:0000691
134218	DNAJC21	Hypertelorism	HP:0000316
134218	DNAJC21	Proximal femoral epiphysiolysis	HP:0006461
134218	DNAJC21	Delayed skeletal maturation	HP:0002750
134218	DNAJC21	Hepatomegaly	HP:0002240
134218	DNAJC21	Amelogenesis imperfecta	HP:0000705
134218	DNAJC21	Short thorax	HP:0010306
134218	DNAJC21	Hyperkeratosis	HP:0000962
134218	DNAJC21	Eczema	HP:0000964
134218	DNAJC21	Irregular ossification at anterior rib ends	HP:0006598
134218	DNAJC21	Acute myeloid leukemia	HP:0004808
134218	DNAJC21	Metaphyseal widening	HP:0003016
134218	DNAJC21	Exocrine pancreatic insufficiency	HP:0001738
134218	DNAJC21	Abnormal facial shape	HP:0001999
134218	DNAJC21	Thrombocytopenia	HP:0001873
134218	DNAJC21	Neutropenia	HP:0001875
134218	DNAJC21	Proximal femoral metaphyseal irregularity	HP:0003411
134218	DNAJC21	Neonatal respiratory distress	HP:0002643
134218	DNAJC21	Pancytopenia	HP:0001876
134218	DNAJC21	Nail dystrophy	HP:0008404
134218	DNAJC21	Scoliosis	HP:0002650
134218	DNAJC21	Micrognathia	HP:0000347
134218	DNAJC21	Elevated hepatic transaminase	HP:0002910
134218	DNAJC21	Congenital hip dislocation	HP:0001374
134218	DNAJC21	Intellectual disability	HP:0001249
134218	DNAJC21	Short stature	HP:0004322
134218	DNAJC21	Recurrent aphthous stomatitis	HP:0011107
134218	DNAJC21	Narrow sacroiliac notch	HP:0008803
134218	DNAJC21	Astigmatism	HP:0000483
134218	DNAJC21	Failure to thrive	HP:0001508
134218	DNAJC21	Ovoid vertebral bodies	HP:0003300
134218	DNAJC21	Phenotypic variability	HP:0003812
134218	DNAJC21	Joint hypermobility	HP:0001382
134218	DNAJC21	Intrauterine growth retardation	HP:0001511
134218	DNAJC21	Malabsorption	HP:0002024
134218	DNAJC21	Intellectual disability, mild	HP:0001256
134218	DNAJC21	Abnormality of skin pigmentation	HP:0001000
134218	DNAJC21	Aplasia/Hypoplasia of the eyebrow	HP:0100840
134218	DNAJC21	Hearing impairment	HP:0000365
134218	DNAJC21	Small for gestational age	HP:0001518
134218	DNAJC21	Downslanted palpebral fissures	HP:0000494
134218	DNAJC21	Anemia	HP:0001903
134218	DNAJC21	Global developmental delay	HP:0001263
134218	DNAJC21	Metaphyseal chondrodysplasia	HP:0005871
134218	DNAJC21	Metaphyseal sclerosis	HP:0004979
134218	DNAJC21	Nephrocalcinosis	HP:0000121
134218	DNAJC21	Cupped ear	HP:0000378
134218	DNAJC21	Aplastic anemia	HP:0001915
134218	DNAJC21	Coxa vara	HP:0002812
134218	DNAJC21	Microcephaly	HP:0000252
134218	DNAJC21	Reduced bone mineral density	HP:0004349
3145	HMBS	Diaphragmatic paralysis	HP:0006597
3145	HMBS	Hyperlipidemia	HP:0003077
3145	HMBS	Autosomal dominant inheritance	HP:0000006
3145	HMBS	Paresthesia	HP:0003401
3145	HMBS	Depressivity	HP:0000716
3145	HMBS	Arthralgia	HP:0002829
3145	HMBS	Hyperhidrosis	HP:0000975
3145	HMBS	Urinary retention	HP:0000016
3145	HMBS	Paraparesis	HP:0002385
3145	HMBS	Renal insufficiency	HP:0000083
3145	HMBS	Urinary incontinence	HP:0000020
3145	HMBS	Psychotic episodes	HP:0000725
3145	HMBS	Hyponatremia	HP:0002902
3145	HMBS	Elevated urinary delta-aminolevulinic acid	HP:0003163
3145	HMBS	Respiratory paralysis	HP:0002203
3145	HMBS	Arrhythmia	HP:0011675
3145	HMBS	Vomiting	HP:0002013
3145	HMBS	Paralytic ileus	HP:0002590
3145	HMBS	Diarrhea	HP:0002014
3145	HMBS	Weight loss	HP:0001824
3145	HMBS	Acute episodes of neuropathic symptoms	HP:0003489
3145	HMBS	Nausea and vomiting	HP:0002017
3145	HMBS	Nausea	HP:0002018
3145	HMBS	Seizures	HP:0001250
3145	HMBS	Hallucinations	HP:0000738
3145	HMBS	Anxiety	HP:0000739
3145	HMBS	Constipation	HP:0002019
3145	HMBS	Lethargy	HP:0001254
3145	HMBS	Dysuria	HP:0100518
3145	HMBS	Cranial nerve paralysis	HP:0006824
3145	HMBS	Abdominal pain	HP:0002027
3145	HMBS	Muscle weakness	HP:0001324
3145	HMBS	Insomnia	HP:0100785
3145	HMBS	Tachycardia	HP:0001649
3145	HMBS	Hypertension	HP:0000822
3145	HMBS	Abnormal urinary color	HP:0012086
3145	HMBS	Anorexia	HP:0002039
3145	HMBS	Hepatocellular carcinoma	HP:0001402
3145	HMBS	Hypertensive crisis	HP:0100735
3145	HMBS	Myalgia	HP:0003326
11340	EXOSC8	Feeding difficulties	HP:0011968
11340	EXOSC8	Failure to thrive	HP:0001508
11340	EXOSC8	Spastic tetraparesis	HP:0001285
11340	EXOSC8	Spinal muscular atrophy	HP:0007269
11340	EXOSC8	Autosomal recessive inheritance	HP:0000007
11340	EXOSC8	Cerebral cortical atrophy	HP:0002120
11340	EXOSC8	Cerebellar vermis hypoplasia	HP:0001320
11340	EXOSC8	Muscle weakness	HP:0001324
11340	EXOSC8	Hearing impairment	HP:0000365
11340	EXOSC8	Global developmental delay	HP:0001263
11340	EXOSC8	Visual impairment	HP:0000505
11340	EXOSC8	Flexion contracture	HP:0001371
11340	EXOSC8	Respiratory failure	HP:0002878
11340	EXOSC8	Hypoplasia of the corpus callosum	HP:0002079
3149	HMGB3	Intellectual disability	HP:0001249
3149	HMGB3	Short stature	HP:0004322
3149	HMGB3	Microcornea	HP:0000482
3149	HMGB3	X-linked inheritance	HP:0001417
3149	HMGB3	Pendular nystagmus	HP:0012043
3149	HMGB3	Coloboma	HP:0000589
3149	HMGB3	Global developmental delay	HP:0001263
3149	HMGB3	Anteverted ears	HP:0040080
3149	HMGB3	Esotropia	HP:0000565
3149	HMGB3	Microphthalmia	HP:0000568
3149	HMGB3	Abnormality of the pinna	HP:0000377
3149	HMGB3	Ptosis	HP:0000508
3149	HMGB3	Microcephaly	HP:0000252
3149	HMGB3	Kyphoscoliosis	HP:0002751
60495	HPSE2	Abnormal facial expression	HP:0005346
60495	HPSE2	Constipation	HP:0002019
60495	HPSE2	Enuresis	HP:0000805
60495	HPSE2	Polydipsia	HP:0001959
60495	HPSE2	Autosomal recessive inheritance	HP:0000007
60495	HPSE2	Hydroureter	HP:0000072
60495	HPSE2	Recurrent urinary tract infections	HP:0000010
60495	HPSE2	Vesicoureteral reflux	HP:0000076
60495	HPSE2	Bowel incontinence	HP:0002607
60495	HPSE2	Abnormal facial shape	HP:0001999
60495	HPSE2	Urethral valve	HP:0010481
60495	HPSE2	Renal insufficiency	HP:0000083
60495	HPSE2	Urinary incontinence	HP:0000020
60495	HPSE2	Hypertension	HP:0000822
60495	HPSE2	Cryptorchidism	HP:0000028
60495	HPSE2	Urethral obstruction	HP:0000796
60495	HPSE2	Hydronephrosis	HP:0000126
3155	HMGCL	Hepatomegaly	HP:0002240
3155	HMGCL	Hyperammonemia	HP:0001987
3155	HMGCL	Abnormality of the cerebral white matter	HP:0002500
3155	HMGCL	Increased level of 3-hydroxy-3-methylglutaric acid in urine	HP:0410051
3155	HMGCL	Decreased prothrombin time	HP:0032198
3155	HMGCL	Autosomal recessive inheritance	HP:0000007
3155	HMGCL	Psychomotor retardation	HP:0025356
3155	HMGCL	Glutaric aciduria	HP:0003150
3155	HMGCL	3-Methylglutaric aciduria	HP:0003344
3155	HMGCL	Increased level of hippuric acid in urine	HP:0410066
3155	HMGCL	Metabolic acidosis	HP:0001942
3155	HMGCL	Hypoglycemia	HP:0001943
3155	HMGCL	Fever	HP:0001945
3155	HMGCL	Vomiting	HP:0002013
3155	HMGCL	Seizures	HP:0001250
3155	HMGCL	Decreased plasma carnitine	HP:0003234
3155	HMGCL	Apathy	HP:0000741
3155	HMGCL	Hyperuricemia	HP:0002149
3155	HMGCL	Spasticity	HP:0001257
3155	HMGCL	Death in childhood	HP:0003819
3155	HMGCL	Coma	HP:0001259
3155	HMGCL	Excessive daytime somnolence	HP:0001262
3155	HMGCL	Global developmental delay	HP:0001263
3155	HMGCL	Anemia	HP:0001903
3155	HMGCL	EEG abnormality	HP:0002353
3155	HMGCL	Myoclonus	HP:0001336
3158	HMGCS2	Hepatomegaly	HP:0002240
3158	HMGCS2	Seizures	HP:0001250
3158	HMGCS2	Autosomal recessive inheritance	HP:0000007
3158	HMGCS2	Hypoglycemia	HP:0001943
3158	HMGCS2	Vomiting	HP:0002013
3158	HMGCS2	Diarrhea	HP:0002014
3162	HMOX1	Hepatomegaly	HP:0002240
3162	HMOX1	Hemolytic anemia	HP:0001878
3162	HMOX1	Growth delay	HP:0001510
3162	HMOX1	Hematuria	HP:0000790
3162	HMOX1	Autosomal recessive inheritance	HP:0000007
3162	HMOX1	Proteinuria	HP:0000093
60506	NYX	Myopia	HP:0000545
60506	NYX	Abnormality of macular pigmentation	HP:0008002
60506	NYX	Optic disc hypoplasia	HP:0007766
60506	NYX	Nyctalopia	HP:0000662
60506	NYX	Strabismus	HP:0000486
60506	NYX	X-linked inheritance	HP:0001417
60506	NYX	Congenital stationary night blindness	HP:0007642
60506	NYX	High myopia	HP:0011003
60506	NYX	X-linked recessive inheritance	HP:0001419
60506	NYX	Nystagmus	HP:0000639
60506	NYX	Reduced visual acuity	HP:0007663
60506	NYX	Hemeralopia	HP:0012047
60509	AGBL5	Abnormal electroretinogram	HP:0000512
60509	AGBL5	Hyperreflexia	HP:0001347
60509	AGBL5	Cataract	HP:0000518
60509	AGBL5	Hypogonadism	HP:0000135
60509	AGBL5	Autosomal recessive inheritance	HP:0000007
60509	AGBL5	Optic atrophy	HP:0000648
60509	AGBL5	Hyperinsulinemia	HP:0000842
60509	AGBL5	Anteverted nares	HP:0000463
60509	AGBL5	Pallor	HP:0000980
60509	AGBL5	Conductive hearing impairment	HP:0000405
60509	AGBL5	Nyctalopia	HP:0000662
60509	AGBL5	Sensorineural hearing impairment	HP:0000407
60509	AGBL5	Abnormality of retinal pigmentation	HP:0007703
60509	AGBL5	Ophthalmoplegia	HP:0000602
60509	AGBL5	Type II diabetes mellitus	HP:0005978
60509	AGBL5	Atypical scarring of skin	HP:0000987
60509	AGBL5	Hypoplasia of penis	HP:0008736
60509	AGBL5	Intellectual disability	HP:0001249
60509	AGBL5	Myopia	HP:0000545
60509	AGBL5	Abnormal testis morphology	HP:0000035
60509	AGBL5	Photophobia	HP:0000613
60509	AGBL5	Obesity	HP:0001513
60509	AGBL5	Blindness	HP:0000618
60509	AGBL5	Abnormal retinal vascular morphology	HP:0008046
60509	AGBL5	Mixed astigmatism	HP:0031790
60509	AGBL5	Wide nasal bridge	HP:0000431
60509	AGBL5	Keratoconus	HP:0000563
60509	AGBL5	Glaucoma	HP:0000501
60509	AGBL5	Peripheral visual field loss	HP:0007994
60509	AGBL5	Progressive night blindness	HP:0007675
60509	AGBL5	Nystagmus	HP:0000639
3166	HMX1	Macular hypoplasia	HP:0001104
3166	HMX1	Microcornea	HP:0000482
3166	HMX1	Ocular hypertension	HP:0007906
3166	HMX1	Ocular anterior segment dysgenesis	HP:0007700
3166	HMX1	Cataract	HP:0000518
3166	HMX1	Autosomal recessive inheritance	HP:0000007
3166	HMX1	Sclerocornea	HP:0000647
3166	HMX1	Microphakia	HP:0012376
3166	HMX1	Microphthalmia	HP:0000568
3166	HMX1	Coloboma	HP:0000589
3166	HMX1	Rod-cone dystrophy	HP:0000510
3166	HMX1	Nystagmus	HP:0000639
3172	HNF4A	Multicystic kidney dysplasia	HP:0000003
3172	HNF4A	Glycosuria	HP:0003076
3172	HNF4A	Autosomal dominant inheritance	HP:0000006
3172	HNF4A	Abnormal circulating fatty-acid concentration	HP:0004359
3172	HNF4A	Hypoglycemia	HP:0001943
3172	HNF4A	Drowsiness	HP:0002329
3172	HNF4A	Aminoaciduria	HP:0003355
3172	HNF4A	Pancreatic islet-cell hyperplasia	HP:0004510
3172	HNF4A	Hyperphosphaturia	HP:0003109
3172	HNF4A	Neonatal hypotonia	HP:0001319
3172	HNF4A	Polydipsia	HP:0001959
3172	HNF4A	Increased hepatic glycogen content	HP:0006568
3172	HNF4A	Progressive neurologic deterioration	HP:0002344
3172	HNF4A	Maturity-onset diabetes of the young	HP:0004904
3172	HNF4A	Bicornuate uterus	HP:0000813
3172	HNF4A	Mandibular prognathia	HP:0000303
3172	HNF4A	Hypospadias	HP:0000047
3172	HNF4A	Hypophosphatemic rickets	HP:0004912
3172	HNF4A	Diabetes mellitus	HP:0000819
3172	HNF4A	Flushing	HP:0031284
3172	HNF4A	Hypothyroidism	HP:0000821
3172	HNF4A	Jaundice	HP:0000952
3172	HNF4A	Hyperinsulinemic hypoglycemia	HP:0000825
3172	HNF4A	Tremor	HP:0001337
3172	HNF4A	Joint hyperflexibility	HP:0005692
3172	HNF4A	Abnormality of exocrine pancreas physiology	HP:0012092
3172	HNF4A	Rickets	HP:0002748
3172	HNF4A	Abnormality of endocrine pancreas physiology	HP:0012093
3172	HNF4A	Hepatomegaly	HP:0002240
3172	HNF4A	Hypoketotic hypoglycemia	HP:0001985
3172	HNF4A	Aplasia/Hypoplasia of the pancreas	HP:0100800
3172	HNF4A	Agitation	HP:0000713
3172	HNF4A	Absent vas deferens	HP:0012873
3172	HNF4A	Renal Fanconi syndrome	HP:0001994
3172	HNF4A	Neonatal hypoglycemia	HP:0001998
3172	HNF4A	Hyperhidrosis	HP:0000975
3172	HNF4A	Renal cell carcinoma	HP:0005584
3172	HNF4A	Hypouricemia	HP:0003537
3172	HNF4A	Elevated alkaline phosphatase	HP:0003155
3172	HNF4A	Pallor	HP:0000980
3172	HNF4A	Horseshoe kidney	HP:0000085
3172	HNF4A	Glomerulopathy	HP:0100820
3172	HNF4A	Arthritis	HP:0001369
3172	HNF4A	Fasting hypoglycemia	HP:0003162
3172	HNF4A	Fatigue	HP:0012378
3172	HNF4A	Metabolic ketoacidosis	HP:0005979
3172	HNF4A	Vomiting	HP:0002013
3172	HNF4A	Proteinuria	HP:0000093
3172	HNF4A	Elevated hepatic transaminase	HP:0002910
3172	HNF4A	Diarrhea	HP:0002014
3172	HNF4A	Intellectual disability	HP:0001249
3172	HNF4A	Seizures	HP:0001250
3172	HNF4A	Short stature	HP:0004322
3172	HNF4A	Pyloric stenosis	HP:0002021
3172	HNF4A	Hyperuricemia	HP:0002149
3172	HNF4A	Lethargy	HP:0001254
3172	HNF4A	Renal agenesis	HP:0000104
3172	HNF4A	Coma	HP:0001259
3172	HNF4A	Hearing impairment	HP:0000365
3172	HNF4A	Global developmental delay	HP:0001263
3172	HNF4A	Large for gestational age	HP:0001520
3172	HNF4A	Tachycardia	HP:0001649
3172	HNF4A	Papillary cystadenoma of the epididymis	HP:0009715
3172	HNF4A	Hepatic steatosis	HP:0001397
3172	HNF4A	Nephrocalcinosis	HP:0000121
3172	HNF4A	Acute kidney injury	HP:0001919
3176	HNMT	Intellectual disability, severe	HP:0010864
3176	HNMT	Intellectual disability	HP:0001249
3176	HNMT	Motor delay	HP:0001270
3176	HNMT	Autosomal recessive inheritance	HP:0000007
3176	HNMT	Infantile onset	HP:0003593
3176	HNMT	Microcephaly	HP:0000252
3176	HNMT	Delayed speech and language development	HP:0000750
3176	HNMT	Global developmental delay	HP:0001263
724066	ATXN8	Dysmetric saccades	HP:0000641
724066	ATXN8	Slow saccadic eye movements	HP:0000514
724066	ATXN8	Hyperreflexia	HP:0001347
724066	ATXN8	Autosomal dominant inheritance	HP:0000006
724066	ATXN8	Cerebellar vermis atrophy	HP:0006855
724066	ATXN8	Incoordination	HP:0002311
724066	ATXN8	Depressivity	HP:0000716
724066	ATXN8	Unsteady gait	HP:0002317
724066	ATXN8	Hypoplasia of the pons	HP:0012110
724066	ATXN8	Morphological abnormality of the pyramidal tract	HP:0002062
724066	ATXN8	Rigidity	HP:0002063
724066	ATXN8	Facial grimacing	HP:0000273
724066	ATXN8	Gait ataxia	HP:0002066
724066	ATXN8	Aspiration	HP:0002835
724066	ATXN8	Bradykinesia	HP:0002067
724066	ATXN8	Urinary incontinence	HP:0000020
724066	ATXN8	Limb ataxia	HP:0002070
724066	ATXN8	Abnormal pyramidal sign	HP:0007256
724066	ATXN8	Progressive cerebellar ataxia	HP:0002073
724066	ATXN8	Impaired smooth pursuit	HP:0007772
724066	ATXN8	Dysphagia	HP:0002015
724066	ATXN8	Spastic dysarthria	HP:0002464
724066	ATXN8	Impotence	HP:0000802
724066	ATXN8	Peripheral neuropathy	HP:0009830
724066	ATXN8	Spasticity	HP:0001257
724066	ATXN8	Dysarthria	HP:0001260
724066	ATXN8	Dystonia	HP:0001332
724066	ATXN8	Cerebellar atrophy	HP:0001272
724066	ATXN8	Tremor	HP:0001337
724066	ATXN8	Sensory neuropathy	HP:0000763
724066	ATXN8	Postural instability	HP:0002172
724066	ATXN8	Nystagmus	HP:0000639
724066	ATXN8	Impaired vibratory sensation	HP:0002495
3178	HNRNPA1	Limb-girdle muscular dystrophy	HP:0006785
3178	HNRNPA1	EMG: myopathic abnormalities	HP:0003458
3178	HNRNPA1	Skeletal muscle atrophy	HP:0003202
3178	HNRNPA1	Fatty replacement of skeletal muscle	HP:0012548
3178	HNRNPA1	Neurodegeneration	HP:0002180
3178	HNRNPA1	Autosomal dominant inheritance	HP:0000006
3178	HNRNPA1	Cataract	HP:0000518
3178	HNRNPA1	Dyscalculia	HP:0002442
3178	HNRNPA1	Calvarial hyperostosis	HP:0004490
3178	HNRNPA1	Cranial nerve compression	HP:0001293
3178	HNRNPA1	Paralysis	HP:0003470
3178	HNRNPA1	Urinary bladder sphincter dysfunction	HP:0002839
3178	HNRNPA1	Distal muscle weakness	HP:0002460
3178	HNRNPA1	Brain atrophy	HP:0012444
3178	HNRNPA1	Language impairment	HP:0002463
3178	HNRNPA1	Elevated serum creatine kinase	HP:0003236
3178	HNRNPA1	Dyspnea	HP:0002094
3178	HNRNPA1	Abnormality of long bone morphology	HP:0011314
3178	HNRNPA1	Ubiquitin-positive cerebral inclusion bodies	HP:0012083
3178	HNRNPA1	Amyotrophic lateral sclerosis	HP:0007354
3178	HNRNPA1	Upper motor neuron dysfunction	HP:0002493
3178	HNRNPA1	Sensory axonal neuropathy	HP:0003390
3178	HNRNPA1	Respiratory failure	HP:0002878
3178	HNRNPA1	Muscle spasm	HP:0003394
3178	HNRNPA1	Pathologic fracture	HP:0002756
3178	HNRNPA1	Emotional lability	HP:0000712
3178	HNRNPA1	Agitation	HP:0000713
3178	HNRNPA1	Muscle fiber inclusion bodies	HP:0100299
3178	HNRNPA1	Fasciculations	HP:0002380
3178	HNRNPA1	Depressivity	HP:0000716
3178	HNRNPA1	Aphasia	HP:0002381
3178	HNRNPA1	Laryngospasm	HP:0025425
3178	HNRNPA1	Elevated alkaline phosphatase	HP:0003155
3178	HNRNPA1	Waddling gait	HP:0002515
3178	HNRNPA1	Abnormality of calvarial morphology	HP:0002648
3178	HNRNPA1	Xerostomia	HP:0000217
3178	HNRNPA1	Motor axonal neuropathy	HP:0007002
3178	HNRNPA1	Fatigue	HP:0012378
3178	HNRNPA1	Rimmed vacuoles	HP:0003805
3178	HNRNPA1	Intellectual disability	HP:0001249
3178	HNRNPA1	Frontotemporal dementia	HP:0002145
3178	HNRNPA1	Nausea and vomiting	HP:0002017
3178	HNRNPA1	Short stature	HP:0004322
3178	HNRNPA1	Congestive heart failure	HP:0001635
3178	HNRNPA1	Anxiety	HP:0000739
3178	HNRNPA1	Increased variability in muscle fiber diameter	HP:0003557
3178	HNRNPA1	Cardiomyopathy	HP:0001638
3178	HNRNPA1	Muscular dystrophy	HP:0003560
3178	HNRNPA1	Spasticity	HP:0001257
3178	HNRNPA1	Hyperlordosis	HP:0003307
3178	HNRNPA1	Osteolysis	HP:0002797
3178	HNRNPA1	Abnormality of the abdominal musculature	HP:0010991
3178	HNRNPA1	Fatigable weakness of swallowing muscles	HP:0030195
3178	HNRNPA1	Pain	HP:0012531
3178	HNRNPA1	EMG: chronic denervation signs	HP:0003444
3178	HNRNPA1	Generalized amyotrophy	HP:0003700
3178	HNRNPA1	Mildly elevated creatine kinase	HP:0008180
3178	HNRNPA1	Fatigable weakness of respiratory muscles	HP:0030196
3178	HNRNPA1	Proximal muscle weakness	HP:0003701
3178	HNRNPA1	Hepatic steatosis	HP:0001397
3178	HNRNPA1	Hip pain	HP:0030838
3178	HNRNPA1	Weakness of muscles of respiration	HP:0004347
3178	HNRNPA1	Mutism	HP:0002300
3178	HNRNPA1	Generalized muscle weakness	HP:0003324
3178	HNRNPA1	Myopathy	HP:0003198
3181	HNRNPA2B1	EMG: myopathic abnormalities	HP:0003458
3181	HNRNPA2B1	Skeletal muscle atrophy	HP:0003202
3181	HNRNPA2B1	Pathologic fracture	HP:0002756
3181	HNRNPA2B1	Fatty replacement of skeletal muscle	HP:0012548
3181	HNRNPA2B1	Behavioral abnormality	HP:0000708
3181	HNRNPA2B1	Cataract	HP:0000518
3181	HNRNPA2B1	Muscle fiber atrophy	HP:0100295
3181	HNRNPA2B1	Myositis	HP:0100614
3181	HNRNPA2B1	Dyscalculia	HP:0002442
3181	HNRNPA2B1	Calvarial hyperostosis	HP:0004490
3181	HNRNPA2B1	Fasciculations	HP:0002380
3181	HNRNPA2B1	Aphasia	HP:0002381
3181	HNRNPA2B1	Cranial nerve compression	HP:0001293
3181	HNRNPA2B1	Waddling gait	HP:0002515
3181	HNRNPA2B1	Elevated alkaline phosphatase	HP:0003155
3181	HNRNPA2B1	Urinary bladder sphincter dysfunction	HP:0002839
3181	HNRNPA2B1	Abnormality of calvarial morphology	HP:0002648
3181	HNRNPA2B1	Motor axonal neuropathy	HP:0007002
3181	HNRNPA2B1	Distal muscle weakness	HP:0002460
3181	HNRNPA2B1	Brain atrophy	HP:0012444
3181	HNRNPA2B1	Abnormality of the skeletal system	HP:0000924
3181	HNRNPA2B1	Rimmed vacuoles	HP:0003805
3181	HNRNPA2B1	Language impairment	HP:0002463
3181	HNRNPA2B1	Intellectual disability	HP:0001249
3181	HNRNPA2B1	Frontotemporal dementia	HP:0002145
3181	HNRNPA2B1	Short stature	HP:0004322
3181	HNRNPA2B1	Congestive heart failure	HP:0001635
3181	HNRNPA2B1	Elevated serum creatine kinase	HP:0003236
3181	HNRNPA2B1	Increased variability in muscle fiber diameter	HP:0003557
3181	HNRNPA2B1	Cardiomyopathy	HP:0001638
3181	HNRNPA2B1	Centrally nucleated skeletal muscle fibers	HP:0003687
3181	HNRNPA2B1	Muscular dystrophy	HP:0003560
3181	HNRNPA2B1	Hyperlordosis	HP:0003307
3181	HNRNPA2B1	Osteolysis	HP:0002797
3181	HNRNPA2B1	Abnormality of long bone morphology	HP:0011314
3181	HNRNPA2B1	Ubiquitin-positive cerebral inclusion bodies	HP:0012083
3181	HNRNPA2B1	EMG: chronic denervation signs	HP:0003444
3181	HNRNPA2B1	Generalized amyotrophy	HP:0003700
3181	HNRNPA2B1	Proximal muscle weakness	HP:0003701
3181	HNRNPA2B1	Hepatic steatosis	HP:0001397
3181	HNRNPA2B1	Hip pain	HP:0030838
3181	HNRNPA2B1	Amyotrophic lateral sclerosis	HP:0007354
3181	HNRNPA2B1	Weakness of muscles of respiration	HP:0004347
3181	HNRNPA2B1	Mutism	HP:0002300
3181	HNRNPA2B1	Upper motor neuron dysfunction	HP:0002493
3181	HNRNPA2B1	Sensory axonal neuropathy	HP:0003390
3181	HNRNPA2B1	Myopathy	HP:0003198
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
60529	ALX4	Autosomal dominant inheritance	HP:0000006
60529	ALX4	Symmetrical, oval parietal bone defects	HP:0002695
60529	ALX4	Autosomal recessive inheritance	HP:0000007
60529	ALX4	Hypogonadism	HP:0000135
60529	ALX4	Parietal foramina	HP:0002697
60529	ALX4	Broad columella	HP:0010761
60529	ALX4	Wide nasal ridge	HP:0012811
60529	ALX4	Dolichocephaly	HP:0000268
60529	ALX4	Prominent occiput	HP:0000269
60529	ALX4	Sparse eyelashes	HP:0000653
60529	ALX4	Sparse and thin eyebrow	HP:0000535
60529	ALX4	Downturned corners of mouth	HP:0002714
60529	ALX4	Oligohydramnios	HP:0001562
60529	ALX4	Bifid nose	HP:0011803
60529	ALX4	Cryptorchidism	HP:0000028
60529	ALX4	Epicanthus	HP:0000286
60529	ALX4	Hypoplasia of the corpus callosum	HP:0002079
60529	ALX4	Agenesis of cerebellar vermis	HP:0002335
60529	ALX4	Depressed nasal bridge	HP:0005280
60529	ALX4	Broad philtrum	HP:0000289
60529	ALX4	Encephalocele	HP:0002084
60529	ALX4	Fine hair	HP:0002213
60529	ALX4	Intellectual disability, moderate	HP:0002342
60529	ALX4	Exostoses	HP:0100777
60529	ALX4	Cerebellar vermis hypoplasia	HP:0001320
60529	ALX4	Prominent nasal bridge	HP:0000426
60529	ALX4	Underdeveloped nasal alae	HP:0000430
60529	ALX4	Scrotal hypoplasia	HP:0000046
60529	ALX4	Wide nasal bridge	HP:0000431
60529	ALX4	Depressed nasal tip	HP:0000437
60529	ALX4	Hypothyroidism	HP:0000821
60529	ALX4	Micropenis	HP:0000054
60529	ALX4	Hypertension	HP:0000822
60529	ALX4	Delayed puberty	HP:0000823
60529	ALX4	Microphthalmia	HP:0000568
60529	ALX4	Conical tooth	HP:0000698
60529	ALX4	Hypertelorism	HP:0000316
60529	ALX4	Alopecia	HP:0001596
60529	ALX4	Short philtrum	HP:0000322
60529	ALX4	Upslanted palpebral fissure	HP:0000582
60529	ALX4	Hypohidrosis	HP:0000966
60529	ALX4	Broad nasal tip	HP:0000455
60529	ALX4	Bifid nasal tip	HP:0000456
60529	ALX4	Depressed nasal ridge	HP:0000457
60529	ALX4	Short palpebral fissure	HP:0012745
60529	ALX4	Anteverted nares	HP:0000463
60529	ALX4	Calvarial skull defect	HP:0001362
60529	ALX4	Craniosynostosis	HP:0001363
60529	ALX4	Increased intracranial pressure	HP:0002516
60529	ALX4	Frontal bossing	HP:0002007
60529	ALX4	Coronal craniosynostosis	HP:0004440
60529	ALX4	Aplasia cutis congenita of scalp	HP:0007385
60529	ALX4	Micrognathia	HP:0000347
60529	ALX4	Intellectual disability	HP:0001249
60529	ALX4	Seizures	HP:0001250
60529	ALX4	Strabismus	HP:0000486
60529	ALX4	Intrauterine growth retardation	HP:0001511
60529	ALX4	Intellectual disability, mild	HP:0001256
60529	ALX4	Nephroblastoma	HP:0002667
60529	ALX4	Decreased skull ossification	HP:0004331
60529	ALX4	Anemia	HP:0001903
60529	ALX4	Global developmental delay	HP:0001263
60529	ALX4	Low-set ears	HP:0000369
60529	ALX4	Variable expressivity	HP:0003828
60529	ALX4	Brachycephaly	HP:0000248
60529	ALX4	Decreased lacrimation	HP:0000633
60529	ALX4	Telecanthus	HP:0000506
60529	ALX4	Agenesis of corpus callosum	HP:0001274
60529	ALX4	Microcephaly	HP:0000252
60529	ALX4	Nystagmus	HP:0000639
3188	HNRNPH2	Feeding difficulties	HP:0011968
3188	HNRNPH2	Absent speech	HP:0001344
3188	HNRNPH2	Short philtrum	HP:0000322
3188	HNRNPH2	Developmental regression	HP:0002376
3188	HNRNPH2	Gait disturbance	HP:0001288
3188	HNRNPH2	Short palpebral fissure	HP:0012745
3188	HNRNPH2	Generalized hypotonia	HP:0001290
3188	HNRNPH2	Aggressive behavior	HP:0000718
3188	HNRNPH2	X-linked dominant inheritance	HP:0001423
3188	HNRNPH2	Obsessive-compulsive behavior	HP:0000722
3188	HNRNPH2	Autistic behavior	HP:0000729
3188	HNRNPH2	Hypotelorism	HP:0000601
3188	HNRNPH2	Wide mouth	HP:0000154
3188	HNRNPH2	Scoliosis	HP:0002650
3188	HNRNPH2	High palate	HP:0000218
3188	HNRNPH2	Micrognathia	HP:0000347
3188	HNRNPH2	Epicanthus	HP:0000286
3188	HNRNPH2	Intellectual disability	HP:0001249
3188	HNRNPH2	Seizures	HP:0001250
3188	HNRNPH2	Short stature	HP:0004322
3188	HNRNPH2	Pes planus	HP:0001763
3188	HNRNPH2	Constipation	HP:0002019
3188	HNRNPH2	Anxiety	HP:0000739
3188	HNRNPH2	Ataxia	HP:0001251
3188	HNRNPH2	Gastroesophageal reflux	HP:0002020
3188	HNRNPH2	Failure to thrive	HP:0001508
3188	HNRNPH2	Abnormal cerebellum morphology	HP:0001317
3188	HNRNPH2	Hyperlordosis	HP:0003307
3188	HNRNPH2	Postnatal microcephaly	HP:0005484
3188	HNRNPH2	Joint laxity	HP:0001388
3188	HNRNPH2	Underdeveloped nasal alae	HP:0000430
3188	HNRNPH2	Global developmental delay	HP:0001263
3188	HNRNPH2	Thick vermilion border	HP:0012471
3188	HNRNPH2	Hypertonia	HP:0001276
3188	HNRNPH2	Hypertelorism	HP:0000316
3190	HNRNPK	Feeding difficulties	HP:0011968
3190	HNRNPK	Sacral dimple	HP:0000960
3190	HNRNPK	Open mouth	HP:0000194
3190	HNRNPK	Autosomal dominant inheritance	HP:0000006
3190	HNRNPK	Generalized hypotonia	HP:0001290
3190	HNRNPK	Wide nasal ridge	HP:0012811
3190	HNRNPK	Dolichocephaly	HP:0000268
3190	HNRNPK	Wide intermamillary distance	HP:0006610
3190	HNRNPK	Craniosynostosis	HP:0001363
3190	HNRNPK	Long face	HP:0000276
3190	HNRNPK	Sparse lateral eyebrow	HP:0005338
3190	HNRNPK	Downturned corners of mouth	HP:0002714
3190	HNRNPK	High palate	HP:0000218
3190	HNRNPK	Scoliosis	HP:0002650
3190	HNRNPK	Thickened nuchal skin fold	HP:0000474
3190	HNRNPK	Cryptorchidism	HP:0000028
3190	HNRNPK	Poor speech	HP:0002465
3190	HNRNPK	Intellectual disability	HP:0001249
3190	HNRNPK	Postaxial polydactyly	HP:0100259
3190	HNRNPK	Constipation	HP:0002019
3190	HNRNPK	Oligodontia	HP:0000677
3190	HNRNPK	Microtia	HP:0008551
3190	HNRNPK	Hip dysplasia	HP:0001385
3190	HNRNPK	Underdeveloped nasal alae	HP:0000430
3190	HNRNPK	Downslanted palpebral fissures	HP:0000494
3190	HNRNPK	Global developmental delay	HP:0001263
3190	HNRNPK	Inverted nipples	HP:0003186
3190	HNRNPK	Overlapping toe	HP:0001845
3190	HNRNPK	Ptosis	HP:0000508
3190	HNRNPK	Long palpebral fissure	HP:0000637
3190	HNRNPK	Pectus excavatum	HP:0000767
3192	HNRNPU	Absent speech	HP:0001344
3192	HNRNPU	Preauricular skin tag	HP:0000384
3192	HNRNPU	Epileptic encephalopathy	HP:0200134
3192	HNRNPU	Autosomal dominant inheritance	HP:0000006
3192	HNRNPU	Biparietal narrowing	HP:0004422
3192	HNRNPU	Intestinal malrotation	HP:0002566
3192	HNRNPU	Upslanted palpebral fissure	HP:0000582
3192	HNRNPU	Ventriculomegaly	HP:0002119
3192	HNRNPU	Abnormal cardiac septum morphology	HP:0001671
3192	HNRNPU	Infantile onset	HP:0003593
3192	HNRNPU	Generalized hypotonia	HP:0001290
3192	HNRNPU	Vesicoureteral reflux	HP:0000076
3192	HNRNPU	Generalized tonic-clonic seizures	HP:0002069
3192	HNRNPU	Horseshoe kidney	HP:0000085
3192	HNRNPU	Optic disc hypoplasia	HP:0007766
3192	HNRNPU	Exaggerated cupid's bow	HP:0002263
3192	HNRNPU	Frontal bossing	HP:0002007
3192	HNRNPU	Synophrys	HP:0000664
3192	HNRNPU	Scoliosis	HP:0002650
3192	HNRNPU	High palate	HP:0000218
3192	HNRNPU	Micrognathia	HP:0000347
3192	HNRNPU	High forehead	HP:0000348
3192	HNRNPU	Epicanthus	HP:0000286
3192	HNRNPU	Delayed myelination	HP:0012448
3192	HNRNPU	Intellectual disability	HP:0001249
3192	HNRNPU	Seizures	HP:0001250
3192	HNRNPU	Short stature	HP:0004322
3192	HNRNPU	Muscular hypotonia	HP:0001252
3192	HNRNPU	Strabismus	HP:0000486
3192	HNRNPU	Thin vermilion border	HP:0000233
3192	HNRNPU	Delayed speech and language development	HP:0000750
3192	HNRNPU	Hydrocephalus	HP:0000238
3192	HNRNPU	Global developmental delay	HP:0001263
3192	HNRNPU	Prominent metopic ridge	HP:0005487
3192	HNRNPU	Intellectual disability, severe	HP:0010864
3192	HNRNPU	EEG abnormality	HP:0002353
3192	HNRNPU	Telecanthus	HP:0000506
3192	HNRNPU	Agenesis of corpus callosum	HP:0001274
3192	HNRNPU	Microcephaly	HP:0000252
3192	HNRNPU	Hypertelorism	HP:0000316
3192	HNRNPU	Smooth philtrum	HP:0000319
3198	HOXA1	Abnormality of eye movement	HP:0000496
3198	HOXA1	Delayed gross motor development	HP:0002194
3198	HOXA1	Sensorineural hearing impairment	HP:0000407
3198	HOXA1	Abnormal cerebral artery morphology	HP:0009145
3198	HOXA1	Abnormality of brainstem morphology	HP:0002363
3199	HOXA2	Autosomal dominant inheritance	HP:0000006
3199	HOXA2	Microtia	HP:0008551
3199	HOXA2	Autosomal recessive inheritance	HP:0000007
3199	HOXA2	Mixed hearing impairment	HP:0000410
3199	HOXA2	Cleft palate	HP:0000175
3207	HOXA11	Autosomal dominant inheritance	HP:0000006
3207	HOXA11	Syndactyly	HP:0001159
3207	HOXA11	Petechiae	HP:0000967
3207	HOXA11	Hip dysplasia	HP:0001385
3207	HOXA11	Radial bowing	HP:0002986
3207	HOXA11	Hip dislocation	HP:0002827
3207	HOXA11	Megakaryocytopenia	HP:0005548
3207	HOXA11	Proximal radio-ulnar synostosis	HP:0005037
3207	HOXA11	Shallow acetabular fossae	HP:0003182
3207	HOXA11	Congenital thrombocytopenia	HP:0001905
3207	HOXA11	Clinodactyly of the 5th finger	HP:0004209
3207	HOXA11	Finger syndactyly	HP:0006101
3207	HOXA11	Sensorineural hearing impairment	HP:0000407
3207	HOXA11	Ulnar bowing	HP:0003031
3207	HOXA11	Limited pronation/supination of forearm	HP:0006394
3207	HOXA11	Aplastic anemia	HP:0001915
3207	HOXA11	Amegakaryocytic thrombocytopenia	HP:0004859
3207	HOXA11	Radioulnar synostosis	HP:0002974
3208	HPCA	Feeding difficulties	HP:0011968
3208	HPCA	Blepharospasm	HP:0000643
3208	HPCA	Juvenile onset	HP:0003621
3208	HPCA	Autosomal recessive inheritance	HP:0000007
3208	HPCA	Dysarthria	HP:0001260
3208	HPCA	Difficulty walking	HP:0002355
3208	HPCA	Limb dystonia	HP:0002451
3208	HPCA	Torsion dystonia	HP:0001304
3208	HPCA	Torticollis	HP:0000473
3208	HPCA	Tremor	HP:0001337
3208	HPCA	Slow progression	HP:0003677
3208	HPCA	Generalized dystonia	HP:0007325
3208	HPCA	Dysphagia	HP:0002015
3209	HOXA13	Sacral dimple	HP:0000960
3209	HOXA13	Delayed ossification of carpal bones	HP:0001216
3209	HOXA13	Brachydactyly	HP:0001156
3209	HOXA13	Autosomal dominant inheritance	HP:0000006
3209	HOXA13	Recurrent urinary tract infections	HP:0000010
3209	HOXA13	Postaxial hand polydactyly	HP:0001162
3209	HOXA13	Ureteropelvic junction obstruction	HP:0000074
3209	HOXA13	Vesicoureteral reflux	HP:0000076
3209	HOXA13	Hallux varus	HP:0008080
3209	HOXA13	Renal insufficiency	HP:0000083
3209	HOXA13	Spontaneous abortion	HP:0005268
3209	HOXA13	Short 5th finger	HP:0009237
3209	HOXA13	Proximal placement of thumb	HP:0009623
3209	HOXA13	Pseudoepiphyses	HP:0010584
3209	HOXA13	Short distal phalanx of finger	HP:0009882
3209	HOXA13	Ventricular septal defect	HP:0001629
3209	HOXA13	Short 2nd toe	HP:0001885
3209	HOXA13	Small thenar eminence	HP:0001245
3209	HOXA13	Shortening of all middle phalanges of the fingers	HP:0006110
3209	HOXA13	Hypoplastic fifth toenail	HP:0011937
3209	HOXA13	Longitudinal vaginal septum	HP:0008740
3209	HOXA13	Strabismus	HP:0000486
3209	HOXA13	Microtia	HP:0008551
3209	HOXA13	Glandular hypospadias	HP:0000807
3209	HOXA13	Delayed tarsal ossification	HP:0008103
3209	HOXA13	Chordee	HP:0000041
3209	HOXA13	Pyelonephritis	HP:0012330
3209	HOXA13	Bicornuate uterus	HP:0000813
3209	HOXA13	Hypospadias	HP:0000047
3209	HOXA13	Bifid scrotum	HP:0000048
3209	HOXA13	Clinodactyly of the 5th finger	HP:0004209
3209	HOXA13	Short 1st metacarpal	HP:0010034
3209	HOXA13	Uterus didelphys	HP:0003762
3209	HOXA13	Abnormal dermatoglyphics	HP:0007477
3209	HOXA13	Micropenis	HP:0000054
3209	HOXA13	Synostosis of carpal bones	HP:0005048
3209	HOXA13	Ulnar deviation of the 2nd finger	HP:0009464
3209	HOXA13	Short first metatarsal	HP:0010105
3209	HOXA13	Short hallux	HP:0010109
3211	HOXB1	Feeding difficulties	HP:0011968
3211	HOXB1	Depressed nasal bridge	HP:0005280
3211	HOXB1	Esophoria	HP:0025312
3211	HOXB1	Nonprogressive	HP:0003680
3211	HOXB1	Facial palsy	HP:0010628
3211	HOXB1	Posteriorly rotated ears	HP:0000358
3211	HOXB1	Autosomal recessive inheritance	HP:0000007
3211	HOXB1	Myopathic facies	HP:0002058
3211	HOXB1	Dysarthria	HP:0001260
3211	HOXB1	Delayed speech and language development	HP:0000750
3211	HOXB1	Anteverted nares	HP:0000463
3211	HOXB1	Low-set ears	HP:0000369
3211	HOXB1	Esotropia	HP:0000565
3211	HOXB1	Sensorineural hearing impairment	HP:0000407
3211	HOXB1	Midface retrusion	HP:0011800
3211	HOXB1	Congenital onset	HP:0003577
3211	HOXB1	Downturned corners of mouth	HP:0002714
3211	HOXB1	Micrognathia	HP:0000347
3211	HOXB1	Short nose	HP:0003196
3211	HOXB1	Ptosis	HP:0000508
3211	HOXB1	Epicanthus	HP:0000286
3211	HOXB1	Dysphagia	HP:0002015
3211	HOXB1	Smooth philtrum	HP:0000319
60558	GUF1	Abnormality of skin morphology	HP:0011121
60558	GUF1	Seizures	HP:0001250
60558	GUF1	Choreoathetosis	HP:0001266
60558	GUF1	Epileptic encephalopathy	HP:0200134
60558	GUF1	Infantile spasms	HP:0012469
60558	GUF1	Autosomal recessive inheritance	HP:0000007
60558	GUF1	Myoclonus	HP:0001336
60558	GUF1	Cerebral cortical atrophy	HP:0002120
60558	GUF1	Developmental regression	HP:0002376
60558	GUF1	Hypsarrhythmia	HP:0002521
60558	GUF1	Spasticity	HP:0001257
60558	GUF1	Intellectual disability, profound	HP:0002187
158866	ZDHHC15	Absent speech	HP:0001344
158866	ZDHHC15	Seizures	HP:0001250
158866	ZDHHC15	Clinodactyly	HP:0030084
158866	ZDHHC15	Macrodontia	HP:0001572
158866	ZDHHC15	Intellectual disability, mild	HP:0001256
158866	ZDHHC15	Obesity	HP:0001513
158866	ZDHHC15	X-linked inheritance	HP:0001417
158866	ZDHHC15	Psychomotor retardation	HP:0025356
158866	ZDHHC15	Severe muscular hypotonia	HP:0006829
158866	ZDHHC15	Short foot	HP:0001773
158866	ZDHHC15	X-linked dominant inheritance	HP:0001423
158866	ZDHHC15	Abnormal facial shape	HP:0001999
158866	ZDHHC15	Global developmental delay	HP:0001263
158866	ZDHHC15	Low posterior hairline	HP:0002162
158866	ZDHHC15	Small hand	HP:0200055
158866	ZDHHC15	Short 5th finger	HP:0009237
158866	ZDHHC15	Cubitus valgus	HP:0002967
158866	ZDHHC15	High palate	HP:0000218
158866	ZDHHC15	Short nose	HP:0003196
158866	ZDHHC15	Epicanthus	HP:0000286
3229	HOXC13	Nail dystrophy	HP:0008404
3229	HOXC13	Autosomal recessive inheritance	HP:0000007
3229	HOXC13	Ectodermal dysplasia	HP:0000968
3229	HOXC13	Hypotrichosis	HP:0001006
3229	HOXC13	Concave nail	HP:0001598
3236	HOXD10	Autosomal dominant inheritance	HP:0000006
3236	HOXD10	Calcaneovalgus deformity	HP:0001848
3236	HOXD10	Arthritis	HP:0001369
3236	HOXD10	Equinus calcaneus	HP:0008138
3236	HOXD10	Rocker bottom foot	HP:0001838
3239	HOXD13	Macrocephaly	HP:0000256
3239	HOXD13	Joint contracture of the hand	HP:0009473
3239	HOXD13	Multicystic kidney dysplasia	HP:0000003
3239	HOXD13	Omphalocele	HP:0001539
3239	HOXD13	Brachydactyly	HP:0001156
3239	HOXD13	Abnormality of the ribs	HP:0000772
3239	HOXD13	Oligodactyly	HP:0012165
3239	HOXD13	Autosomal dominant inheritance	HP:0000006
3239	HOXD13	Abnormal cardiac septum morphology	HP:0001671
3239	HOXD13	Abnormality of female internal genitalia	HP:0000008
3239	HOXD13	Congenital diaphragmatic hernia	HP:0000776
3239	HOXD13	Absent distal interphalangeal creases	HP:0001032
3239	HOXD13	Camptodactyly of finger	HP:0100490
3239	HOXD13	Tracheoesophageal fistula	HP:0002575
3239	HOXD13	Mesoaxial hand polydactyly	HP:0006159
3239	HOXD13	Moderately short stature	HP:0008848
3239	HOXD13	Abnormality of the gallbladder	HP:0005264
3239	HOXD13	Anencephaly	HP:0002323
3239	HOXD13	2nd-5th toe middle phalangeal hypoplasia	HP:0008083
3239	HOXD13	Cavernous hemangioma	HP:0001048
3239	HOXD13	Polyhydramnios	HP:0001561
3239	HOXD13	Preaxial hand polydactyly	HP:0001177
3239	HOXD13	Short distal phalanx of finger	HP:0009882
3239	HOXD13	Y-shaped metacarpals	HP:0006042
3239	HOXD13	Cryptorchidism	HP:0000028
3239	HOXD13	Hallux valgus	HP:0001822
3239	HOXD13	Hypoplasia of penis	HP:0008736
3239	HOXD13	Metatarsal synostosis	HP:0001440
3239	HOXD13	Multiple impacted teeth	HP:0001571
3239	HOXD13	Occipital encephalocele	HP:0002085
3239	HOXD13	Postaxial foot polydactyly	HP:0001830
3239	HOXD13	Enlarged proximal interphalangeal joints	HP:0006185
3239	HOXD13	Broad distal phalanx of the thumb	HP:0009642
3239	HOXD13	Single umbilical artery	HP:0001195
3239	HOXD13	Symphalangism affecting the phalanges of the hand	HP:0009773
3239	HOXD13	Cleft palate	HP:0000175
3239	HOXD13	Hypospadias	HP:0000047
3239	HOXD13	Aplasia/Hypoplasia of the lungs	HP:0006703
3239	HOXD13	Bifid scrotum	HP:0000048
3239	HOXD13	Preaxial foot polydactyly	HP:0001841
3239	HOXD13	3-4 toe syndactyly	HP:0009779
3239	HOXD13	Round face	HP:0000311
3239	HOXD13	Cutaneous finger syndactyly	HP:0010554
3239	HOXD13	Straight clavicles	HP:0006587
3239	HOXD13	Joint hyperflexibility	HP:0005692
3239	HOXD13	Ambiguous genitalia	HP:0000062
3239	HOXD13	Short 5th metacarpal	HP:0010047
3239	HOXD13	Short metacarpal	HP:0010049
3239	HOXD13	Laryngomalacia	HP:0001601
3239	HOXD13	Abnormality of the pancreas	HP:0001732
3239	HOXD13	Broad hallux	HP:0010055
3239	HOXD13	Short phalanx of finger	HP:0009803
3239	HOXD13	Upper limb asymmetry	HP:0100560
3239	HOXD13	3-4 finger syndactyly	HP:0006097
3239	HOXD13	2-3 toe syndactyly	HP:0004691
3239	HOXD13	4-5 toe syndactyly	HP:0004692
3239	HOXD13	Finger syndactyly	HP:0006101
3239	HOXD13	Ectopic kidney	HP:0000086
3239	HOXD13	Premature birth	HP:0001622
3239	HOXD13	Frontal bossing	HP:0002007
3239	HOXD13	Tracheal stenosis	HP:0002777
3239	HOXD13	Aplasia/Hypoplasia of the distal phalanx of the hallux	HP:0010076
3239	HOXD13	Broad distal phalanx of the hallux	HP:0010077
3239	HOXD13	6 metacarpals	HP:0001501
3239	HOXD13	Vertebral segmentation defect	HP:0003422
3239	HOXD13	Short fifth metatarsal	HP:0004704
3239	HOXD13	Camptodactyly	HP:0012385
3239	HOXD13	Contracture of the proximal interphalangeal joint of the 5th finger	HP:0009185
3239	HOXD13	Short stature	HP:0004322
3239	HOXD13	Aplasia/Hypoplasia of the radius	HP:0006501
3239	HOXD13	Metacarpal synostosis	HP:0009701
3239	HOXD13	Carpal synostosis	HP:0009702
3239	HOXD13	Type E brachydactyly	HP:0005863
3239	HOXD13	Intrauterine growth retardation	HP:0001511
3239	HOXD13	Anal atresia	HP:0002023
3239	HOXD13	Renal agenesis	HP:0000104
3239	HOXD13	Short middle phalanx of the 2nd finger	HP:0009577
3239	HOXD13	Toe syndactyly	HP:0001770
3239	HOXD13	Fused fourth and fifth metacarpals	HP:0005867
3239	HOXD13	Non-midline cleft lip	HP:0100335
3239	HOXD13	Large fontanelles	HP:0000239
3239	HOXD13	Low-set, posteriorly rotated ears	HP:0000368
3239	HOXD13	Clinodactyly of the 5th finger	HP:0004209
3239	HOXD13	Abnormal sacrum morphology	HP:0005107
3239	HOXD13	Abnormality of the intervertebral disk	HP:0005108
3239	HOXD13	Short metatarsal	HP:0010743
3239	HOXD13	Ulnar deviation of finger	HP:0009465
3239	HOXD13	Type D brachydactyly	HP:0005627
3239	HOXD13	Short middle phalanx of the 5th finger	HP:0004220
3239	HOXD13	Short clavicles	HP:0000894
3239	HOXD13	Hydronephrosis	HP:0000126
3242	HPD	Seizures	HP:0001250
3242	HPD	Muscular hypotonia	HP:0001252
3242	HPD	Failure to thrive	HP:0001508
3242	HPD	Abnormal circulating tyrosine concentration	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
3248	HPGD	Deviation of finger	HP:0004097
3248	HPGD	Gynecomastia	HP:0000771
3248	HPGD	Avascular necrosis	HP:0010885
3248	HPGD	Neoplasm of the skin	HP:0008069
3248	HPGD	Autosomal dominant inheritance	HP:0000006
3248	HPGD	Autosomal recessive inheritance	HP:0000007
3248	HPGD	Arthralgia	HP:0002829
3248	HPGD	Coarse facial features	HP:0000280
3248	HPGD	Clubbing of toes	HP:0100760
3248	HPGD	Genu varum	HP:0002970
3248	HPGD	Seborrheic dermatitis	HP:0001051
3248	HPGD	Abnormal cortical bone morphology	HP:0003103
3248	HPGD	Erythema	HP:0010783
3248	HPGD	Acne	HP:0001061
3248	HPGD	Abnormality of epiphysis morphology	HP:0005930
3248	HPGD	Osteopenia	HP:0000938
3248	HPGD	Osteoporosis	HP:0000939
3248	HPGD	Osteolytic defects of the phalanges of the hand	HP:0009771
3248	HPGD	Cutis gyrata of scalp	HP:0010541
3248	HPGD	Peptic ulcer	HP:0004398
3248	HPGD	Redundant skin	HP:0001582
3248	HPGD	Mottled pigmentation	HP:0001070
3248	HPGD	Neoplasm of the lung	HP:0100526
3248	HPGD	Abnormality of tibia morphology	HP:0002992
3248	HPGD	Cerebral palsy	HP:0100021
3248	HPGD	Flushing	HP:0031284
3248	HPGD	Abnormality of bone marrow cell morphology	HP:0005561
3248	HPGD	Gastrointestinal hemorrhage	HP:0002239
3248	HPGD	Hepatomegaly	HP:0002240
3248	HPGD	Clubbing	HP:0001217
3248	HPGD	Osteomyelitis	HP:0002754
3248	HPGD	Eczema	HP:0000964
3248	HPGD	Osteoarthritis	HP:0002758
3248	HPGD	Palmoplantar hyperkeratosis	HP:0000972
3248	HPGD	Growth hormone excess	HP:0000845
3248	HPGD	Impaired temperature sensation	HP:0010829
3248	HPGD	Hyperhidrosis	HP:0000975
3248	HPGD	Abnormal fingernail morphology	HP:0001231
3248	HPGD	Eczematoid dermatitis	HP:0000976
3248	HPGD	Splenomegaly	HP:0001744
3248	HPGD	Wormian bones	HP:0002645
3248	HPGD	Palmoplantar keratoderma	HP:0000982
3248	HPGD	Arthritis	HP:0001369
3248	HPGD	Scoliosis	HP:0002650
3248	HPGD	High palate	HP:0000218
3248	HPGD	Bone pain	HP:0002653
3248	HPGD	Abnormal hair pattern	HP:0010720
3248	HPGD	Limitation of joint mobility	HP:0001376
3248	HPGD	Arthropathy	HP:0003040
3248	HPGD	Abnormal hair quantity	HP:0011362
3248	HPGD	Malabsorption	HP:0002024
3248	HPGD	Joint swelling	HP:0001386
3248	HPGD	Patent ductus arteriosus	HP:0001643
3248	HPGD	Joint stiffness	HP:0001387
3248	HPGD	Osteolysis	HP:0002797
3248	HPGD	Anemia	HP:0001903
3248	HPGD	Large fontanelles	HP:0000239
3248	HPGD	Disproportionate tall stature	HP:0001519
3248	HPGD	Small hand	HP:0200055
3248	HPGD	Congenital onset	HP:0003577
3248	HPGD	Long clavicles	HP:0000890
3248	HPGD	Ptosis	HP:0000508
3248	HPGD	Thickened calvaria	HP:0002684
3248	HPGD	Pectus excavatum	HP:0000767
3248	HPGD	Abnormality of the knee	HP:0002815
126129	CPT1C	Abnormality of the foot	HP:0001760
126129	CPT1C	EMG abnormality	HP:0003457
126129	CPT1C	Abnormal lower-limb motor evoked potentials	HP:0012898
126129	CPT1C	Skeletal muscle atrophy	HP:0003202
126129	CPT1C	Hyperreflexia	HP:0001347
126129	CPT1C	Autosomal dominant inheritance	HP:0000006
126129	CPT1C	Degeneration of the lateral corticospinal tracts	HP:0002314
126129	CPT1C	Spastic paraplegia	HP:0001258
126129	CPT1C	Progressive pes cavus	HP:0008075
126129	CPT1C	Urinary urgency	HP:0000012
126129	CPT1C	Progressive spastic paraplegia	HP:0007020
126129	CPT1C	Distal lower limb amyotrophy	HP:0008944
126129	CPT1C	Spastic gait	HP:0002064
126129	CPT1C	Difficulty walking	HP:0002355
126129	CPT1C	Urinary incontinence	HP:0000020
126129	CPT1C	Proximal muscle weakness	HP:0003701
126129	CPT1C	Impaired vibration sensation in the lower limbs	HP:0002166
126129	CPT1C	Distal lower limb muscle weakness	HP:0009053
126129	CPT1C	Adult onset	HP:0003581
126129	CPT1C	Slow progression	HP:0003677
126129	CPT1C	Progressive spastic paraparesis	HP:0007199
126129	CPT1C	Babinski sign	HP:0003487
199857	ALG14	Ragged-red muscle fibers	HP:0003200
199857	ALG14	Muscle spasm	HP:0003394
199857	ALG14	Generalized weakness of limb muscles	HP:0009028
199857	ALG14	Areflexia	HP:0001284
199857	ALG14	Facial palsy	HP:0010628
199857	ALG14	Autosomal recessive inheritance	HP:0000007
199857	ALG14	Generalized hypotonia	HP:0001290
199857	ALG14	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
199857	ALG14	Multiple joint contractures	HP:0002828
199857	ALG14	Muscle fiber tubular inclusions	HP:0100301
199857	ALG14	Fatigable weakness	HP:0003473
199857	ALG14	Waddling gait	HP:0002515
199857	ALG14	Difficulty running	HP:0009046
199857	ALG14	High palate	HP:0000218
199857	ALG14	Scoliosis	HP:0002650
199857	ALG14	Type 1 muscle fiber predominance	HP:0003803
199857	ALG14	Distal muscle weakness	HP:0002460
199857	ALG14	Slow progression	HP:0003677
199857	ALG14	Difficulty climbing stairs	HP:0003551
199857	ALG14	Pes planus	HP:0001763
199857	ALG14	Elevated serum creatine kinase	HP:0003236
199857	ALG14	Scapular winging	HP:0003691
199857	ALG14	Knee flexion contracture	HP:0006380
199857	ALG14	Joint laxity	HP:0001388
199857	ALG14	Difficulty walking	HP:0002355
199857	ALG14	Poor head control	HP:0002421
199857	ALG14	Motor delay	HP:0001270
199857	ALG14	Frequent falls	HP:0002359
199857	ALG14	Lumbar hyperlordosis	HP:0002938
199857	ALG14	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0030202
199857	ALG14	Ptosis	HP:0000508
199857	ALG14	Easy fatigability	HP:0003388
199857	ALG14	Increased jitter at single fibre EMG	HP:0030205
199857	ALG14	Limb-girdle muscle weakness	HP:0003325
199857	ALG14	Myopathy	HP:0003198
199857	ALG14	Gowers sign	HP:0003391
3251	HPRT1	Hyperreflexia	HP:0001347
3251	HPRT1	Opisthotonus	HP:0002179
3251	HPRT1	Behavioral abnormality	HP:0000708
3251	HPRT1	Generalized hypotonia	HP:0001290
3251	HPRT1	X-linked recessive inheritance	HP:0001419
3251	HPRT1	Hyperuricosuria	HP:0003149
3251	HPRT1	Gout	HP:0001997
3251	HPRT1	Renal insufficiency	HP:0000083
3251	HPRT1	Nephrolithiasis	HP:0000787
3251	HPRT1	Hematuria	HP:0000790
3251	HPRT1	Hemiplegia/hemiparesis	HP:0004374
3251	HPRT1	Abnormality of extrapyramidal motor function	HP:0002071
3251	HPRT1	Vomiting	HP:0002013
3251	HPRT1	Testicular atrophy	HP:0000029
3251	HPRT1	Dysphagia	HP:0002015
3251	HPRT1	Megaloblastic anemia	HP:0001889
3251	HPRT1	Intellectual disability	HP:0001249
3251	HPRT1	Short stature	HP:0004322
3251	HPRT1	Muscular hypotonia	HP:0001252
3251	HPRT1	Hyperuricemia	HP:0002149
3251	HPRT1	Intellectual disability, moderate	HP:0002342
3251	HPRT1	Intellectual disability, mild	HP:0001256
3251	HPRT1	Spasticity	HP:0001257
3251	HPRT1	Dysarthria	HP:0001260
3251	HPRT1	Self-injurious behavior	HP:0100716
3251	HPRT1	Anemia	HP:0001903
3251	HPRT1	Choreoathetosis	HP:0001266
3251	HPRT1	Dystonia	HP:0001332
3251	HPRT1	Motor delay	HP:0001270
3251	HPRT1	Abnormality of movement	HP:0100022
3251	HPRT1	Podagra	HP:0001854
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	Blindness	HP:0000618
3257	HPS1	Abdominal pain	HP:0002027
3257	HPS1	Restrictive ventilatory defect	HP:0002091
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	Ocular albinism	HP:0001107
3257	HPS1	Renal insufficiency	HP:0000083
3257	HPS1	Severely reduced visual acuity	HP:0001141
3257	HPS1	Colitis	HP:0002583
3257	HPS1	Abnormal hair morphology	HP:0001595
3257	HPS1	Pulmonary fibrosis	HP:0002206
3257	HPS1	Albinism	HP:0001022
3257	HPS1	Nystagmus	HP:0000639
3265	HRAS	Macrocephaly	HP:0000256
3265	HRAS	Pectus carinatum	HP:0000768
3265	HRAS	Genu recurvatum	HP:0002816
3265	HRAS	Wide anterior fontanel	HP:0000260
3265	HRAS	Hemangioma	HP:0001028
3265	HRAS	Autosomal dominant inheritance	HP:0000006
3265	HRAS	Non-medullary thyroid carcinoma	HP:0040198
3265	HRAS	Prominence of the premaxilla	HP:0010759
3265	HRAS	Hypoplastic toenails	HP:0001800
3265	HRAS	Cerebral atrophy	HP:0002059
3265	HRAS	Cranial asymmetry	HP:0000267
3265	HRAS	Overgrowth	HP:0001548
3265	HRAS	Prominent occiput	HP:0000269
3265	HRAS	Fragile nails	HP:0001808
3265	HRAS	Barrel-shaped chest	HP:0001552
3265	HRAS	Generalized hyperpigmentation	HP:0007440
3265	HRAS	Large earlobe	HP:0009748
3265	HRAS	Corneal opacity	HP:0007957
3265	HRAS	Deep-set nails	HP:0001814
3265	HRAS	Cutaneous melanoma	HP:0012056
3265	HRAS	Thin nail	HP:0001816
3265	HRAS	Coarse facial features	HP:0000280
3265	HRAS	Cavernous hemangioma	HP:0001048
3265	HRAS	Polyhydramnios	HP:0001561
3265	HRAS	Dandy-Walker malformation	HP:0001305
3265	HRAS	Cryptorchidism	HP:0000028
3265	HRAS	Epicanthus	HP:0000286
3265	HRAS	Numerous nevi	HP:0001054
3265	HRAS	Reduced tendon reflexes	HP:0001315
3265	HRAS	Full cheeks	HP:0000293
3265	HRAS	Hyperphosphaturia	HP:0003109
3265	HRAS	Hemimegalencephaly	HP:0007206
3265	HRAS	Rhabdomyosarcoma	HP:0002859
3265	HRAS	Respiratory insufficiency	HP:0002093
3265	HRAS	Bladder carcinoma	HP:0002862
3265	HRAS	Redundant skin	HP:0001582
3265	HRAS	Deep palmar crease	HP:0006191
3265	HRAS	Hypophosphatemic rickets	HP:0004912
3265	HRAS	Enlarged cerebellum	HP:0012081
3265	HRAS	EEG abnormality	HP:0002353
3265	HRAS	Pointed chin	HP:0000307
3265	HRAS	Keratoconus	HP:0000563
3265	HRAS	Abnormal dermatoglyphics	HP:0007477
3265	HRAS	Obstructive sleep apnea	HP:0002870
3265	HRAS	Round face	HP:0000311
3265	HRAS	Microphthalmia	HP:0000568
3265	HRAS	Precocious puberty	HP:0000826
3265	HRAS	Pneumothorax	HP:0002107
3265	HRAS	Hypertelorism	HP:0000316
3265	HRAS	Joint hyperflexibility	HP:0005692
3265	HRAS	Alopecia	HP:0001596
3265	HRAS	Concave nail	HP:0001598
3265	HRAS	Respiratory failure	HP:0002878
3265	HRAS	Nevus sebaceous	HP:0010815
3265	HRAS	Linear nevus sebaceous	HP:0010817
3265	HRAS	Abnormality of dental color	HP:0011073
3265	HRAS	Hyperreflexia	HP:0001347
3265	HRAS	Facial asymmetry	HP:0000324
3265	HRAS	Lack of skin elasticity	HP:0100679
3265	HRAS	Biparietal narrowing	HP:0004422
3265	HRAS	Ventriculomegaly	HP:0002119
3265	HRAS	Cerebral cortical atrophy	HP:0002120
3265	HRAS	Hoarse voice	HP:0001609
3265	HRAS	Follicular thyroid carcinoma	HP:0006731
3265	HRAS	Deep plantar creases	HP:0001869
3265	HRAS	Plagiocephaly	HP:0001357
3265	HRAS	Coloboma	HP:0000589
3265	HRAS	Broad forehead	HP:0000337
3265	HRAS	Thickened Achilles tendon	HP:0004690
3265	HRAS	Abnormality of dental morphology	HP:0006482
3265	HRAS	Renal insufficiency	HP:0000083
3265	HRAS	Transitional cell carcinoma of the bladder	HP:0006740
3265	HRAS	Porencephalic cyst	HP:0002132
3265	HRAS	Horseshoe kidney	HP:0000085
3265	HRAS	Premature birth	HP:0001622
3265	HRAS	Long philtrum	HP:0000343
3265	HRAS	Ophthalmoplegia	HP:0000602
3265	HRAS	Micrognathia	HP:0000347
3265	HRAS	Ventricular septal defect	HP:0001629
3265	HRAS	Vertebral segmentation defect	HP:0003422
3265	HRAS	Atrial septal defect	HP:0001631
3265	HRAS	Lymphangiectasis	HP:0031842
3265	HRAS	Mitral valve prolapse	HP:0001634
3265	HRAS	Iris coloboma	HP:0000612
3265	HRAS	Redundant neck skin	HP:0005989
3265	HRAS	Posteriorly rotated ears	HP:0000358
3265	HRAS	Hypertrophic cardiomyopathy	HP:0001639
3265	HRAS	Pulmonic stenosis	HP:0001642
3265	HRAS	Basal cell carcinoma	HP:0002671
3265	HRAS	Low-set, posteriorly rotated ears	HP:0000368
3265	HRAS	Low-set ears	HP:0000369
3265	HRAS	Vestibular Schwannoma	HP:0009588
3265	HRAS	Periorbital fullness	HP:0000629
3265	HRAS	Large face	HP:0100729
3265	HRAS	Short nose	HP:0003196
3265	HRAS	Ichthyosis	HP:0008064
3265	HRAS	Sparse hair	HP:0008070
3265	HRAS	Abnormality of finger	HP:0001167
3265	HRAS	Coarctation of aorta	HP:0001680
3265	HRAS	Abnormality of metabolism/homeostasis	HP:0001939
3265	HRAS	Somatic mutation	HP:0001428
3265	HRAS	Hypoglycemia	HP:0001943
3265	HRAS	Arrhythmia	HP:0011675
3265	HRAS	Macroglossia	HP:0000158
3265	HRAS	Depressed nasal bridge	HP:0005280
3265	HRAS	Sporadic	HP:0003745
3265	HRAS	Narrow nasal ridge	HP:0000418
3265	HRAS	Somatic mosaicism	HP:0001442
3265	HRAS	Hyperextensibility of the finger joints	HP:0001187
3265	HRAS	Sudden death	HP:0001699
3265	HRAS	Curly hair	HP:0002212
3265	HRAS	Abnormality of dental enamel	HP:0000682
3265	HRAS	Osteopenia	HP:0000938
3265	HRAS	Woolly hair	HP:0002224
3265	HRAS	Thick lower lip vermilion	HP:0000179
3265	HRAS	Limited elbow movement	HP:0002996
3265	HRAS	Nevus	HP:0003764
3265	HRAS	Hyperpigmentation of the skin	HP:0000953
3265	HRAS	Arnold-Chiari type I malformation	HP:0007099
3265	HRAS	Acanthosis nigricans	HP:0000956
3265	HRAS	Narrow palate	HP:0000189
3265	HRAS	Delayed skeletal maturation	HP:0002750
3265	HRAS	Kyphoscoliosis	HP:0002751
3265	HRAS	Aplasia/Hypoplasia of the cerebellum	HP:0007360
3265	HRAS	Open mouth	HP:0000194
3265	HRAS	Hyperkeratosis	HP:0000962
3265	HRAS	Papilloma	HP:0012740
3265	HRAS	Recurrent fractures	HP:0002757
3265	HRAS	Broad nasal tip	HP:0000455
3265	HRAS	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
3265	HRAS	Asymmetric growth	HP:0100555
3265	HRAS	Anteverted nares	HP:0000463
3265	HRAS	Abnormal fingernail morphology	HP:0001231
3265	HRAS	Webbed neck	HP:0000465
3265	HRAS	Deep philtrum	HP:0002002
3265	HRAS	Cerebral calcification	HP:0002514
3265	HRAS	Prominent forehead	HP:0011220
3265	HRAS	Short neck	HP:0000470
3265	HRAS	Frontal bossing	HP:0002007
3265	HRAS	High palate	HP:0000218
3265	HRAS	Thickened nuchal skin fold	HP:0000474
3265	HRAS	Tracheomalacia	HP:0002779
3265	HRAS	Bronchomalacia	HP:0002780
3265	HRAS	Congenital giant melanocytic nevus	HP:0005600
3265	HRAS	Intellectual disability	HP:0001249
3265	HRAS	Talipes equinovarus	HP:0001762
3265	HRAS	Short stature	HP:0004322
3265	HRAS	Seizures	HP:0001250
3265	HRAS	Melanocytic nevus	HP:0000995
3265	HRAS	Failure to thrive	HP:0001508
3265	HRAS	Gastroesophageal reflux	HP:0002020
3265	HRAS	Muscular hypotonia	HP:0001252
3265	HRAS	Pyloric stenosis	HP:0002021
3265	HRAS	Strabismus	HP:0000486
3265	HRAS	Growth delay	HP:0001510
3265	HRAS	Everted lower lip vermilion	HP:0000232
3265	HRAS	Irregular hyperpigmentation	HP:0007400
3265	HRAS	Achilles tendon contracture	HP:0001771
3265	HRAS	Hydrocephalus	HP:0000238
3265	HRAS	Downslanted palpebral fissures	HP:0000494
3265	HRAS	Global developmental delay	HP:0001263
3265	HRAS	Poor suck	HP:0002033
3265	HRAS	Hypopigmentation of the skin	HP:0001010
3265	HRAS	Abnormality of toe	HP:0001780
3265	HRAS	Abnormality of vision	HP:0000504
3265	HRAS	Adenoma sebaceum	HP:0009720
3265	HRAS	Hemihypertrophy	HP:0001528
3265	HRAS	Congenital onset	HP:0003577
3265	HRAS	Ulnar deviation of finger	HP:0009465
3265	HRAS	Telecanthus	HP:0000506
3265	HRAS	Failure to thrive in infancy	HP:0001531
3265	HRAS	Ptosis	HP:0000508
404672	GTF2H5	Decreased fertility	HP:0000144
404672	GTF2H5	Intellectual disability	HP:0001249
404672	GTF2H5	Joint contracture of the hand	HP:0009473
404672	GTF2H5	Short stature	HP:0004322
404672	GTF2H5	Asthma	HP:0002099
404672	GTF2H5	Cataract	HP:0000518
404672	GTF2H5	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
404672	GTF2H5	Autosomal recessive inheritance	HP:0000007
404672	GTF2H5	Brittle hair	HP:0002299
404672	GTF2H5	Erythroderma	HP:0001019
404672	GTF2H5	Tiger tail banding	HP:0045055
3273	HRG	Hypercoagulability	HP:0100724
3273	HRG	Autosomal dominant inheritance	HP:0000006
3273	HRG	Recurrent thromboembolism	HP:0004831
3284	HSD3B2	Absent scrotum	HP:0008707
3284	HSD3B2	Gynecomastia	HP:0000771
3284	HSD3B2	Autosomal recessive inheritance	HP:0000007
3284	HSD3B2	Decreased fertility in males	HP:0012041
3284	HSD3B2	Abnormality of the menstrual cycle	HP:0000140
3284	HSD3B2	Generalized hyperpigmentation	HP:0007440
3284	HSD3B2	Acidosis	HP:0001941
3284	HSD3B2	Dehydration	HP:0001944
3284	HSD3B2	Female external genitalia in individual with 46,XY karyotype	HP:0008730
3284	HSD3B2	Cryptorchidism	HP:0000028
3284	HSD3B2	Adrenal hyperplasia	HP:0008221
3284	HSD3B2	Decreased testicular size	HP:0008734
3284	HSD3B2	Ambiguous genitalia, male	HP:0000033
3284	HSD3B2	Androgen insufficiency	HP:0008226
3284	HSD3B2	Male pseudohermaphroditism	HP:0000037
3284	HSD3B2	Acne	HP:0001061
3284	HSD3B2	Elevated circulating follicle stimulating hormone level	HP:0008232
3284	HSD3B2	Urogenital sinus anomaly	HP:0100779
3284	HSD3B2	Osteoporosis	HP:0000939
3284	HSD3B2	Hypospadias	HP:0000047
3284	HSD3B2	Bifid scrotum	HP:0000048
3284	HSD3B2	Hyperpigmented genitalia	HP:0030258
3284	HSD3B2	Perineal hypospadias	HP:0000051
3284	HSD3B2	Micropenis	HP:0000054
3284	HSD3B2	Hypotension	HP:0002615
3284	HSD3B2	Delayed puberty	HP:0000823
3284	HSD3B2	Abnormal oral glucose tolerance	HP:0004924
3284	HSD3B2	Hypernatriuria	HP:0012605
3284	HSD3B2	Ambiguous genitalia, female	HP:0000061
3284	HSD3B2	Ambiguous genitalia	HP:0000062
3284	HSD3B2	Delayed skeletal maturation	HP:0002750
3284	HSD3B2	Feeding difficulties	HP:0011968
3284	HSD3B2	Elevated circulating luteinizing hormone level	HP:0011969
3284	HSD3B2	Congenital adrenal hyperplasia	HP:0008258
3284	HSD3B2	Adrenogenital syndrome	HP:0000840
3284	HSD3B2	Neonatal hypoglycemia	HP:0001998
3284	HSD3B2	Increased circulating renin level	HP:0000848
3284	HSD3B2	Abnormality of the labia majora	HP:0012881
3284	HSD3B2	Increased circulating ACTH level	HP:0003154
3284	HSD3B2	Abnormal sex determination	HP:0012244
3284	HSD3B2	Hyponatremia	HP:0002902
3284	HSD3B2	Insulin resistance	HP:0000855
3284	HSD3B2	Clitoral hypertrophy	HP:0008665
3284	HSD3B2	Vomiting	HP:0002013
3284	HSD3B2	Ectopic adrenal gland	HP:0011742
3284	HSD3B2	Decreased circulating aldosterone level	HP:0004319
3284	HSD3B2	Hypovolemia	HP:0011106
3284	HSD3B2	Decreased circulating cortisol level	HP:0008163
3284	HSD3B2	Enlarged polycystic ovaries	HP:0008675
3284	HSD3B2	Decreased fertility in females	HP:0000868
3284	HSD3B2	Adrenocorticotropic hormone excess	HP:0011749
3284	HSD3B2	Hyperkalemia	HP:0002153
3284	HSD3B2	Hirsutism	HP:0001007
3284	HSD3B2	Accelerated skeletal maturation	HP:0005616
3284	HSD3B2	Premature pubarche	HP:0012411
3284	HSD3B2	Absence of secondary sex characteristics	HP:0008187
3284	HSD3B2	Premature adrenarche	HP:0012412
3284	HSD3B2	Renal salt wasting	HP:0000127
347344	ZNF81	Intellectual disability	HP:0001249
3290	HSD11B1	Accelerated skeletal maturation	HP:0005616
3290	HSD11B1	Autosomal dominant inheritance	HP:0000006
3290	HSD11B1	Insulin resistance	HP:0000855
3290	HSD11B1	Obesity	HP:0001513
3290	HSD11B1	Premature pubarche	HP:0012411
3290	HSD11B1	Acanthosis nigricans	HP:0000956
3291	HSD11B2	Metabolic alkalosis	HP:0200114
3291	HSD11B2	Short stature	HP:0004322
3291	HSD11B2	Hypokalemia	HP:0002900
3291	HSD11B2	Variable expressivity	HP:0003828
3291	HSD11B2	Failure to thrive	HP:0001508
3291	HSD11B2	Growth delay	HP:0001510
3291	HSD11B2	Hypertension	HP:0000822
3291	HSD11B2	Decreased circulating renin level	HP:0003351
3291	HSD11B2	Autosomal recessive inheritance	HP:0000007
3291	HSD11B2	Hypertensive retinopathy	HP:0001095
3291	HSD11B2	Small for gestational age	HP:0001518
3291	HSD11B2	Decreased circulating aldosterone level	HP:0004319
3293	HSD17B3	Gynecomastia	HP:0000771
3293	HSD17B3	Abnormality of metabolism/homeostasis	HP:0001939
3293	HSD17B3	Male pseudohermaphroditism	HP:0000037
3293	HSD17B3	Hypothyroidism	HP:0000821
3293	HSD17B3	Infertility	HP:0000789
3293	HSD17B3	Autosomal recessive inheritance	HP:0000007
3293	HSD17B3	Abnormality of the urethra	HP:0000795
3293	HSD17B3	Cryptorchidism	HP:0000028
3293	HSD17B3	Hypogonadotrophic hypogonadism	HP:0000044
3293	HSD17B3	Ambiguous genitalia	HP:0000062
3295	HSD17B4	Macrocephaly	HP:0000256
3295	HSD17B4	Bile duct proliferation	HP:0001408
3295	HSD17B4	Areflexia	HP:0001284
3295	HSD17B4	Gonadal dysgenesis	HP:0000133
3295	HSD17B4	Limited extraocular movements	HP:0007941
3295	HSD17B4	Autosomal recessive inheritance	HP:0000007
3295	HSD17B4	Thoracic hypoplasia	HP:0005257
3295	HSD17B4	Infantile onset	HP:0003593
3295	HSD17B4	Dolichocephaly	HP:0000268
3295	HSD17B4	Delayed cranial suture closure	HP:0000270
3295	HSD17B4	Primary adrenal insufficiency	HP:0008207
3295	HSD17B4	Calcific stippling	HP:0002832
3295	HSD17B4	Gait ataxia	HP:0002066
3295	HSD17B4	Primary amenorrhea	HP:0000786
3295	HSD17B4	Generalized cerebral atrophy/hypoplasia	HP:0007058
3295	HSD17B4	Split hand	HP:0001171
3295	HSD17B4	Retrognathia	HP:0000278
3295	HSD17B4	Sensorineural hearing impairment	HP:0000407
3295	HSD17B4	Polyhydramnios	HP:0001561
3295	HSD17B4	Epicanthus	HP:0000286
3295	HSD17B4	Hypoplasia of the corpus callosum	HP:0002079
3295	HSD17B4	Depressed nasal bridge	HP:0005280
3295	HSD17B4	Undetectable electroretinogram	HP:0000550
3295	HSD17B4	Neonatal hypotonia	HP:0001319
3295	HSD17B4	Feeding difficulties in infancy	HP:0008872
3295	HSD17B4	Osteopenia	HP:0000938
3295	HSD17B4	Osteoporosis	HP:0000939
3295	HSD17B4	Hypertelorism	HP:0000316
3295	HSD17B4	Visual loss	HP:0000572
3295	HSD17B4	Cognitive impairment	HP:0100543
3295	HSD17B4	Delayed skeletal maturation	HP:0002750
3295	HSD17B4	Hepatomegaly	HP:0002240
3295	HSD17B4	Aplasia/Hypoplasia of the cerebellum	HP:0007360
3295	HSD17B4	Increased circulating gonadotropin level	HP:0000837
3295	HSD17B4	Upslanted palpebral fissure	HP:0000582
3295	HSD17B4	Ventriculomegaly	HP:0002119
3295	HSD17B4	Corpus callosum atrophy	HP:0007371
3295	HSD17B4	Polymicrogyria	HP:0002126
3295	HSD17B4	Scaphocephaly	HP:0030799
3295	HSD17B4	Abnormal facial shape	HP:0001999
3295	HSD17B4	Long philtrum	HP:0000343
3295	HSD17B4	Frontal bossing	HP:0002007
3295	HSD17B4	Cerebral hypoplasia	HP:0006872
3295	HSD17B4	Scoliosis	HP:0002650
3295	HSD17B4	High palate	HP:0000218
3295	HSD17B4	Micrognathia	HP:0000347
3295	HSD17B4	High forehead	HP:0000348
3295	HSD17B4	Elevated hepatic transaminase	HP:0002910
3295	HSD17B4	Pes cavus	HP:0001761
3295	HSD17B4	Short stature	HP:0004322
3295	HSD17B4	Talipes equinovarus	HP:0001762
3295	HSD17B4	Seizures	HP:0001250
3295	HSD17B4	Cerebral dysmyelination	HP:0007266
3295	HSD17B4	Failure to thrive	HP:0001508
3295	HSD17B4	Sensorimotor neuropathy	HP:0007141
3295	HSD17B4	Hammertoe	HP:0001765
3295	HSD17B4	Strabismus	HP:0000486
3295	HSD17B4	Renal cyst	HP:0000107
3295	HSD17B4	Cortical dysplasia	HP:0002539
3295	HSD17B4	Dysarthria	HP:0001260
3295	HSD17B4	Global developmental delay	HP:0001263
3295	HSD17B4	Large fontanelles	HP:0000239
3295	HSD17B4	Spastic diplegia	HP:0001264
3295	HSD17B4	Hyporeflexia	HP:0001265
3295	HSD17B4	Low-set ears	HP:0000369
3295	HSD17B4	Cholestasis	HP:0001396
3295	HSD17B4	Hepatic steatosis	HP:0001397
3295	HSD17B4	Motor delay	HP:0001270
3295	HSD17B4	Cerebellar atrophy	HP:0001272
3295	HSD17B4	Visual impairment	HP:0000505
3295	HSD17B4	Decreased nerve conduction velocity	HP:0000762
3295	HSD17B4	Gliosis	HP:0002171
3295	HSD17B4	Nystagmus	HP:0000639
3295	HSD17B4	Decreased muscle mass	HP:0003199
3295	HSD17B4	Fetal ascites	HP:0001791
3295	HSD17B4	Pectus excavatum	HP:0000767
3299	HSF4	Lamellar cataract	HP:0007971
3299	HSF4	Nuclear cataract	HP:0100018
3299	HSF4	Pulverulent cataract	HP:0010693
3299	HSF4	Autosomal dominant inheritance	HP:0000006
3299	HSF4	Anterior polar cataract	HP:0001134
3300	DNAJB2	Pes cavus	HP:0001761
3300	DNAJB2	Skeletal muscle atrophy	HP:0003202
3300	DNAJB2	Dysphonia	HP:0001618
3300	DNAJB2	Foot dorsiflexor weakness	HP:0009027
3300	DNAJB2	Areflexia	HP:0001284
3300	DNAJB2	Spinal muscular atrophy	HP:0007269
3300	DNAJB2	Autosomal recessive inheritance	HP:0000007
3300	DNAJB2	Distal sensory impairment	HP:0002936
3300	DNAJB2	Gait disturbance	HP:0001288
3300	DNAJB2	Slow progression	HP:0003677
3313	HSPA9	Sideroblastic anemia	HP:0001924
3313	HSPA9	Sparse hair	HP:0008070
3313	HSPA9	Autosomal dominant inheritance	HP:0000006
3313	HSPA9	Autosomal recessive inheritance	HP:0000007
3313	HSPA9	Bifid nasal tip	HP:0000456
3313	HSPA9	Depressed nasal ridge	HP:0000457
3313	HSPA9	Recurrent urinary tract infections	HP:0000010
3313	HSPA9	Vesicoureteral reflux	HP:0000076
3313	HSPA9	Dysplastic corpus callosum	HP:0006989
3313	HSPA9	Dysplasia of the femoral head	HP:0010575
3313	HSPA9	Short neck	HP:0000470
3313	HSPA9	Atopic dermatitis	HP:0001047
3313	HSPA9	Synophrys	HP:0000664
3313	HSPA9	Midface retrusion	HP:0011800
3313	HSPA9	Renal hypoplasia	HP:0000089
3313	HSPA9	Coronal cleft vertebrae	HP:0003417
3313	HSPA9	Oligohydramnios	HP:0001562
3313	HSPA9	High palate	HP:0000218
3313	HSPA9	Hypodontia	HP:0000668
3313	HSPA9	Refractory anemia with ringed sideroblasts	HP:0004828
3313	HSPA9	Atrial septal defect	HP:0001631
3313	HSPA9	Epiphyseal dysplasia	HP:0002656
3313	HSPA9	Aplasia cutis congenita	HP:0001057
3313	HSPA9	Microtia	HP:0008551
3313	HSPA9	Anal atresia	HP:0002023
3313	HSPA9	Global developmental delay	HP:0001263
3313	HSPA9	Severe short stature	HP:0003510
3313	HSPA9	Patent foramen ovale	HP:0001655
3313	HSPA9	Brachycephaly	HP:0000248
3313	HSPA9	Highly arched eyebrow	HP:0002553
3313	HSPA9	Agenesis of corpus callosum	HP:0001274
3313	HSPA9	Short nose	HP:0003196
3315	HSPB1	Muscle spasm	HP:0003394
3315	HSPB1	Foot dorsiflexor weakness	HP:0009027
3315	HSPB1	Areflexia	HP:0001284
3315	HSPB1	Autosomal dominant inheritance	HP:0000006
3315	HSPB1	Fasciculations	HP:0002380
3315	HSPB1	Impaired temperature sensation	HP:0010829
3315	HSPB1	Paralysis	HP:0003470
3315	HSPB1	Heterogeneous	HP:0001425
3315	HSPB1	Split hand	HP:0001171
3315	HSPB1	Peripheral axonal neuropathy	HP:0003477
3315	HSPB1	Ulnar claw	HP:0001178
3315	HSPB1	Areflexia of lower limbs	HP:0002522
3315	HSPB1	Distal muscle weakness	HP:0002460
3315	HSPB1	Distal lower limb muscle weakness	HP:0009053
3315	HSPB1	Slow progression	HP:0003677
3315	HSPB1	Impaired pain sensation	HP:0007328
3315	HSPB1	Pes cavus	HP:0001761
3315	HSPB1	Talipes equinovarus	HP:0001762
3315	HSPB1	Reduced tendon reflexes	HP:0001315
3315	HSPB1	Chronic axonal neuropathy	HP:0007267
3315	HSPB1	Peripheral neuropathy	HP:0009830
3315	HSPB1	Decreased motor nerve conduction velocity	HP:0003431
3315	HSPB1	Hyporeflexia of lower limbs	HP:0002600
3315	HSPB1	Upper limb amyotrophy	HP:0009129
3315	HSPB1	Paresis of extensor muscles of the big toe	HP:0002601
3315	HSPB1	Lower limb muscle weakness	HP:0007340
3315	HSPB1	Distal amyotrophy	HP:0003693
3315	HSPB1	Steppage gait	HP:0003376
3315	HSPB1	Distal lower limb amyotrophy	HP:0008944
3315	HSPB1	Hyporeflexia	HP:0001265
3315	HSPB1	Difficulty walking	HP:0002355
3315	HSPB1	EMG: chronic denervation signs	HP:0003444
3315	HSPB1	EMG: neuropathic changes	HP:0003445
3315	HSPB1	Distal sensory impairment	HP:0002936
3315	HSPB1	Limb fasciculations	HP:0007289
3315	HSPB1	Adult onset	HP:0003581
93426	SYCE1	Primary amenorrhea	HP:0000786
93426	SYCE1	Aspiration	HP:0002835
93426	SYCE1	Increased circulating gonadotropin level	HP:0000837
93426	SYCE1	Autosomal recessive inheritance	HP:0000007
93426	SYCE1	Microphthalmia	HP:0000568
93426	SYCE1	Non-obstructive azoospermia	HP:0011961
93426	SYCE1	Macular dystrophy	HP:0007754
93426	SYCE1	Obstructive azoospermia	HP:0011962
93426	SYCE1	Decreased testicular size	HP:0008734
3321	IGSF3	Dacryocystocele	HP:0030752
3321	IGSF3	Lacrimal duct atresia	HP:0000564
3321	IGSF3	Autosomal dominant inheritance	HP:0000006
3321	IGSF3	Sinusitis	HP:0000246
3321	IGSF3	Epiphora	HP:0009926
3321	IGSF3	Autosomal recessive inheritance	HP:0000007
3321	IGSF3	Periorbital edema	HP:0100539
3321	IGSF3	Dacryocystitis	HP:0000620
3321	IGSF3	Conjunctivitis	HP:0000509
3329	HSPD1	Hyperreflexia	HP:0001347
3329	HSPD1	Autosomal dominant inheritance	HP:0000006
3329	HSPD1	Autosomal recessive inheritance	HP:0000007
3329	HSPD1	Generalized hypotonia	HP:0001290
3329	HSPD1	Intellectual disability, profound	HP:0002187
3329	HSPD1	Urinary urgency	HP:0000012
3329	HSPD1	Lower limb spasticity	HP:0002061
3329	HSPD1	Progressive spasticity	HP:0002191
3329	HSPD1	Spastic gait	HP:0002064
3329	HSPD1	Urinary incontinence	HP:0000020
3329	HSPD1	Urinary bladder sphincter dysfunction	HP:0002839
3329	HSPD1	Scoliosis	HP:0002650
3329	HSPD1	Flexion contracture	HP:0001371
3329	HSPD1	Progressive	HP:0003676
3329	HSPD1	Babinski sign	HP:0003487
3329	HSPD1	Pes cavus	HP:0001761
3329	HSPD1	Seizures	HP:0001250
3329	HSPD1	Muscular hypotonia	HP:0001252
3329	HSPD1	Strabismus	HP:0000486
3329	HSPD1	Neonatal onset	HP:0003623
3329	HSPD1	Feeding difficulties in infancy	HP:0008872
3329	HSPD1	Spastic paraplegia	HP:0001258
3329	HSPD1	Lower limb muscle weakness	HP:0007340
3329	HSPD1	Postnatal microcephaly	HP:0005484
3329	HSPD1	Hearing impairment	HP:0000365
3329	HSPD1	Global developmental delay	HP:0001263
3329	HSPD1	Leukodystrophy	HP:0002415
3329	HSPD1	Choreoathetosis	HP:0001266
3329	HSPD1	Impaired vibration sensation in the lower limbs	HP:0002166
3329	HSPD1	Hyperreflexia in upper limbs	HP:0007350
3329	HSPD1	Apnea	HP:0002104
3329	HSPD1	Rod-cone dystrophy	HP:0000510
3329	HSPD1	Nystagmus	HP:0000639
60675	PROK2	Ichthyosis	HP:0008064
60675	PROK2	Abnormality of body height	HP:0000002
60675	PROK2	Gynecomastia	HP:0000771
60675	PROK2	Absence of pubertal development	HP:0008197
60675	PROK2	Autosomal dominant inheritance	HP:0000006
60675	PROK2	Female hypogonadism	HP:0000134
60675	PROK2	Gait disturbance	HP:0001288
60675	PROK2	Hypoplasia of the uterus	HP:0000013
60675	PROK2	Decreased fertility	HP:0000144
60675	PROK2	Primary amenorrhea	HP:0000786
60675	PROK2	Hypoplasia of the ovary	HP:0008724
60675	PROK2	Sensorineural hearing impairment	HP:0000407
60675	PROK2	Male hypogonadism	HP:0000026
60675	PROK2	Cryptorchidism	HP:0000028
60675	PROK2	Decreased testicular size	HP:0008734
60675	PROK2	Erectile abnormalities	HP:0100639
60675	PROK2	Depressed nasal bridge	HP:0005280
60675	PROK2	Impotence	HP:0000802
60675	PROK2	Abnormality of the dentition	HP:0000164
60675	PROK2	Color vision defect	HP:0000551
60675	PROK2	Osteopenia	HP:0000938
60675	PROK2	Osteoporosis	HP:0000939
60675	PROK2	Hypogonadotrophic hypogonadism	HP:0000044
60675	PROK2	Muscle weakness	HP:0001324
60675	PROK2	Cleft palate	HP:0000175
60675	PROK2	Diabetes mellitus	HP:0000819
60675	PROK2	Micropenis	HP:0000054
60675	PROK2	Paraplegia	HP:0010550
60675	PROK2	Delayed puberty	HP:0000823
60675	PROK2	Bimanual synkinesia	HP:0001335
60675	PROK2	Sparse body hair	HP:0002231
60675	PROK2	Tremor	HP:0001337
60675	PROK2	Hyposmia	HP:0004409
60675	PROK2	Non-obstructive azoospermia	HP:0011961
60675	PROK2	Hypertelorism	HP:0000316
60675	PROK2	Delayed skeletal maturation	HP:0002750
60675	PROK2	Anterior hypopituitarism	HP:0000830
60675	PROK2	Dyspareunia	HP:0030016
60675	PROK2	Increased female libido	HP:0030019
60675	PROK2	Recurrent fractures	HP:0002757
60675	PROK2	Eunuchoid habitus	HP:0003782
60675	PROK2	Abnormality of the voice	HP:0001608
60675	PROK2	Generalized joint laxity	HP:0002761
60675	PROK2	Anosmia	HP:0000458
60675	PROK2	Reduced number of teeth	HP:0009804
60675	PROK2	Depressivity	HP:0000716
60675	PROK2	Congenital sensorineural hearing impairment	HP:0008527
60675	PROK2	Wide intermamillary distance	HP:0006610
60675	PROK2	Abnormality of cardiovascular system morphology	HP:0030680
60675	PROK2	Skeletal dysplasia	HP:0002652
60675	PROK2	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
60675	PROK2	Pes cavus	HP:0001761
60675	PROK2	Camptodactyly	HP:0012385
60675	PROK2	Seizures	HP:0001250
60675	PROK2	Ataxia	HP:0001251
60675	PROK2	Pes planus	HP:0001763
60675	PROK2	Anxiety	HP:0000739
60675	PROK2	Muscular hypotonia	HP:0001252
60675	PROK2	Secondary amenorrhea	HP:0000869
60675	PROK2	Renal agenesis	HP:0000104
60675	PROK2	Obesity	HP:0001513
60675	PROK2	Decreased serum testosterone level	HP:0040171
60675	PROK2	Dysarthria	HP:0001260
60675	PROK2	Breast hypoplasia	HP:0003187
60675	PROK2	Incomplete penetrance	HP:0003829
60675	PROK2	Visual impairment	HP:0000505
60675	PROK2	Absence of secondary sex characteristics	HP:0008187
60675	PROK2	Ptosis	HP:0000508
60675	PROK2	Reduced bone mineral density	HP:0004349
60675	PROK2	Nystagmus	HP:0000639
60681	FKBP10	Pectus carinatum	HP:0000768
60681	FKBP10	Ankle contracture	HP:0006466
60681	FKBP10	Recurrent fractures	HP:0002757
60681	FKBP10	Triangular face	HP:0000325
60681	FKBP10	Autosomal dominant inheritance	HP:0000006
60681	FKBP10	Autosomal recessive inheritance	HP:0000007
60681	FKBP10	Gait disturbance	HP:0001288
60681	FKBP10	Vertebral compression fractures	HP:0002953
60681	FKBP10	Hip contracture	HP:0003273
60681	FKBP10	Blue sclerae	HP:0000592
60681	FKBP10	Elevated alkaline phosphatase	HP:0003155
60681	FKBP10	Wormian bones	HP:0002645
60681	FKBP10	Bowing of the long bones	HP:0006487
60681	FKBP10	Scoliosis	HP:0002650
60681	FKBP10	Talipes	HP:0001883
60681	FKBP10	Platyspondyly	HP:0000926
60681	FKBP10	Short stature	HP:0004322
60681	FKBP10	Talipes equinovarus	HP:0001762
60681	FKBP10	Aplasia/Hypoplasia of the patella	HP:0006498
60681	FKBP10	Pterygium	HP:0001059
60681	FKBP10	Reduced tendon reflexes	HP:0001315
60681	FKBP10	Melanocytic nevus	HP:0000995
60681	FKBP10	Increased susceptibility to fractures	HP:0002659
60681	FKBP10	Abnormality of the dentition	HP:0000164
60681	FKBP10	Aplasia/Hypoplasia of the radius	HP:0006501
60681	FKBP10	Vertebral wedging	HP:0008422
60681	FKBP10	Osteopenia	HP:0000938
60681	FKBP10	Biconcave vertebral bodies	HP:0004586
60681	FKBP10	Osteoporosis	HP:0000939
60681	FKBP10	Joint stiffness	HP:0001387
60681	FKBP10	Protrusio acetabuli	HP:0003179
60681	FKBP10	Elbow flexion contracture	HP:0002987
60681	FKBP10	Joint laxity	HP:0001388
60681	FKBP10	Knee flexion contracture	HP:0006380
60681	FKBP10	Respiratory insufficiency	HP:0002093
60681	FKBP10	Abnormal form of the vertebral bodies	HP:0003312
60681	FKBP10	Arthrogryposis multiplex congenita	HP:0002804
60681	FKBP10	Abnormality of the skin	HP:0000951
60681	FKBP10	Kyphosis	HP:0002808
60681	FKBP10	Brachycephaly	HP:0000248
60681	FKBP10	Abnormality of the clavicle	HP:0000889
60681	FKBP10	Coxa vara	HP:0002812
60681	FKBP10	Kyphoscoliosis	HP:0002751
60681	FKBP10	Dentinogenesis imperfecta	HP:0000703
3339	HSPG2	Elevated aldolase level	HP:0012544
3339	HSPG2	Pectus carinatum	HP:0000768
3339	HSPG2	Umbilical hernia	HP:0001537
3339	HSPG2	Joint contracture of the hand	HP:0009473
3339	HSPG2	Abnormality of the ribs	HP:0000772
3339	HSPG2	Odontogenic neoplasm	HP:0100612
3339	HSPG2	Narrow chest	HP:0000774
3339	HSPG2	Cataract	HP:0000518
3339	HSPG2	Autosomal recessive inheritance	HP:0000007
3339	HSPG2	Gait disturbance	HP:0001288
3339	HSPG2	Metatarsus valgus	HP:0010508
3339	HSPG2	Overgrowth	HP:0001548
3339	HSPG2	Distichiasis	HP:0009743
3339	HSPG2	Malar flattening	HP:0000272
3339	HSPG2	Nephrolithiasis	HP:0000787
3339	HSPG2	Prenatal movement abnormality	HP:0001557
3339	HSPG2	Abnormal eyebrow morphology	HP:0000534
3339	HSPG2	Inguinal hernia	HP:0000023
3339	HSPG2	Polyhydramnios	HP:0001561
3339	HSPG2	Cryptorchidism	HP:0000028
3339	HSPG2	Decreased testicular size	HP:0008734
3339	HSPG2	Myopia	HP:0000545
3339	HSPG2	Full cheeks	HP:0000293
3339	HSPG2	Low anterior hairline	HP:0000294
3339	HSPG2	Genu valgum	HP:0002857
3339	HSPG2	Pulmonary hypoplasia	HP:0002089
3339	HSPG2	Mask-like facies	HP:0000298
3339	HSPG2	Abnormality of epiphysis morphology	HP:0005930
3339	HSPG2	Pulmonary arterial hypertension	HP:0002092
3339	HSPG2	Muscle weakness	HP:0001324
3339	HSPG2	Respiratory insufficiency	HP:0002093
3339	HSPG2	Apnea	HP:0002104
3339	HSPG2	Ectopia lentis	HP:0001083
3339	HSPG2	Hypertelorism	HP:0000316
3339	HSPG2	Long eyelashes in irregular rows	HP:0007740
3339	HSPG2	Increased number of teeth	HP:0011069
3339	HSPG2	Anisospondyly	HP:0002879
3339	HSPG2	Laryngomalacia	HP:0001601
3339	HSPG2	Blepharophimosis	HP:0000581
3339	HSPG2	Abnormality of the ureter	HP:0000069
3339	HSPG2	Anterior bowing of long bones	HP:0006473
3339	HSPG2	Blue sclerae	HP:0000592
3339	HSPG2	Flat face	HP:0012368
3339	HSPG2	Dysphonia	HP:0001618
3339	HSPG2	Calvarial skull defect	HP:0001362
3339	HSPG2	Abnormality of pelvic girdle bone morphology	HP:0002644
3339	HSPG2	High pitched voice	HP:0001620
3339	HSPG2	Weak voice	HP:0001621
3339	HSPG2	Wormian bones	HP:0002645
3339	HSPG2	Bowing of the long bones	HP:0006487
3339	HSPG2	Long philtrum	HP:0000343
3339	HSPG2	Abnormality of the pharynx	HP:0000600
3339	HSPG2	Coronal cleft vertebrae	HP:0003417
3339	HSPG2	Scoliosis	HP:0002650
3339	HSPG2	Micrognathia	HP:0000347
3339	HSPG2	Skeletal dysplasia	HP:0002652
3339	HSPG2	Congenital hip dislocation	HP:0001374
3339	HSPG2	Atrial septal defect	HP:0001631
3339	HSPG2	Abnormality of femoral epiphysis	HP:0006499
3339	HSPG2	Posteriorly rotated ears	HP:0000358
3339	HSPG2	Hip dysplasia	HP:0001385
3339	HSPG2	Attention deficit hyperactivity disorder	HP:0007018
3339	HSPG2	Joint stiffness	HP:0001387
3339	HSPG2	Protrusio acetabuli	HP:0003179
3339	HSPG2	Low-set, posteriorly rotated ears	HP:0000368
3339	HSPG2	Coxa valga	HP:0002673
3339	HSPG2	Low-set ears	HP:0000369
3339	HSPG2	Aplasia/Hypoplasia affecting the eye	HP:0008056
3339	HSPG2	Lumbar hyperlordosis	HP:0002938
3339	HSPG2	Myopathy	HP:0003198
3339	HSPG2	Skeletal muscle hypertrophy	HP:0003712
3339	HSPG2	EMG abnormality	HP:0003457
3339	HSPG2	Skeletal muscle atrophy	HP:0003202
3339	HSPG2	Blepharospasm	HP:0000643
3339	HSPG2	Thoracic hypoplasia	HP:0005257
3339	HSPG2	Overfolded helix	HP:0000396
3339	HSPG2	Sprengel anomaly	HP:0000912
3339	HSPG2	Arrhythmia	HP:0011675
3339	HSPG2	Platyspondyly	HP:0000926
3339	HSPG2	Narrow mouth	HP:0000160
3339	HSPG2	Elevated serum creatine kinase	HP:0003236
3339	HSPG2	Micromelia	HP:0002983
3339	HSPG2	Feeding difficulties in infancy	HP:0008872
3339	HSPG2	Disproportionate short-limb short stature	HP:0008873
3339	HSPG2	Prominent nasal bridge	HP:0000426
3339	HSPG2	Osteoporosis	HP:0000939
3339	HSPG2	Cleft palate	HP:0000175
3339	HSPG2	Wide nasal bridge	HP:0000431
3339	HSPG2	Abnormality of the metaphysis	HP:0000944
3339	HSPG2	Dental malocclusion	HP:0000689
3339	HSPG2	Generalized hirsutism	HP:0002230
3339	HSPG2	Myotonia	HP:0002486
3339	HSPG2	Abnormally straight spine	HP:0100795
3339	HSPG2	Delayed skeletal maturation	HP:0002750
3339	HSPG2	Kyphoscoliosis	HP:0002751
3339	HSPG2	Flexion contracture of toe	HP:0005830
3339	HSPG2	Metaphyseal widening	HP:0003016
3339	HSPG2	Depressed nasal ridge	HP:0000457
3339	HSPG2	Hip contracture	HP:0003273
3339	HSPG2	Abnormality of the abdominal wall	HP:0004298
3339	HSPG2	Testicular torsion	HP:0100813
3339	HSPG2	Pursed lips	HP:0000205
3339	HSPG2	Short long bone	HP:0003026
3339	HSPG2	Trismus	HP:0000211
3339	HSPG2	Short neck	HP:0000470
3339	HSPG2	Wrist flexion contracture	HP:0001239
3339	HSPG2	Abnormally ossified vertebrae	HP:0100569
3339	HSPG2	High palate	HP:0000218
3339	HSPG2	Irritability	HP:0000737
3339	HSPG2	Intellectual disability	HP:0001249
3339	HSPG2	Narrow palpebral fissure	HP:0045025
3339	HSPG2	Elbow dislocation	HP:0003042
3339	HSPG2	Abnormality of immune system physiology	HP:0010978
3339	HSPG2	Short stature	HP:0004322
3339	HSPG2	Microcornea	HP:0000482
3339	HSPG2	Talipes equinovarus	HP:0001762
3339	HSPG2	Anxiety	HP:0000739
3339	HSPG2	Pes planus	HP:0001763
3339	HSPG2	Neonatal death	HP:0003811
3339	HSPG2	Shoulder flexion contracture	HP:0003044
3339	HSPG2	Cachexia	HP:0004326
3339	HSPG2	Strabismus	HP:0000486
3339	HSPG2	Everted lower lip vermilion	HP:0000232
3339	HSPG2	Spinal rigidity	HP:0003306
3339	HSPG2	Hyperlordosis	HP:0003307
3339	HSPG2	Hyporeflexia	HP:0001265
3339	HSPG2	Death in infancy	HP:0001522
3339	HSPG2	Arthrogryposis multiplex congenita	HP:0002804
3339	HSPG2	Kyphosis	HP:0002808
3339	HSPG2	Visual impairment	HP:0000505
3339	HSPG2	Increased bone mineral density	HP:0011001
3339	HSPG2	Microcephaly	HP:0000252
3339	HSPG2	Hypertonia	HP:0001276
3339	HSPG2	Ptosis	HP:0000508
3339	HSPG2	Coxa vara	HP:0002812
3339	HSPG2	Myalgia	HP:0003326
3339	HSPG2	Malignant hyperthermia	HP:0002047
3339	HSPG2	Pectus excavatum	HP:0000767
60684	TRAPPC11	Limb-girdle muscular dystrophy	HP:0006785
60684	TRAPPC11	Athetosis	HP:0002305
60684	TRAPPC11	Plantar hyperkeratosis	HP:0007556
60684	TRAPPC11	Cataract	HP:0000518
60684	TRAPPC11	Autosomal recessive inheritance	HP:0000007
60684	TRAPPC11	Optic atrophy	HP:0000648
60684	TRAPPC11	Generalized hypotonia	HP:0001290
60684	TRAPPC11	Alacrima	HP:0000522
60684	TRAPPC11	Cerebral atrophy	HP:0002059
60684	TRAPPC11	Achalasia	HP:0002571
60684	TRAPPC11	Right ventricular dilatation	HP:0005133
60684	TRAPPC11	Generalized hyperpigmentation	HP:0007440
60684	TRAPPC11	Abnormal circulating creatine kinase concentration	HP:0040081
60684	TRAPPC11	Generalized tonic-clonic seizures	HP:0002069
60684	TRAPPC11	Abnormality of the calf musculature	HP:0001430
60684	TRAPPC11	Sensorineural hearing impairment	HP:0000407
60684	TRAPPC11	Chorea	HP:0002072
60684	TRAPPC11	Esophagitis	HP:0100633
60684	TRAPPC11	Truncal ataxia	HP:0002078
60684	TRAPPC11	Myopia	HP:0000545
60684	TRAPPC11	Poor speech	HP:0002465
60684	TRAPPC11	Elevated serum creatine kinase	HP:0003236
60684	TRAPPC11	Restrictive ventilatory defect	HP:0002091
60684	TRAPPC11	Respiratory insufficiency	HP:0002093
60684	TRAPPC11	EEG abnormality	HP:0002353
60684	TRAPPC11	Difficulty walking	HP:0002355
60684	TRAPPC11	Dystonia	HP:0001332
60684	TRAPPC11	Hyperkinesis	HP:0002487
60684	TRAPPC11	Tremor	HP:0001337
60684	TRAPPC11	Exercise-induced muscle fatigue	HP:0009020
60684	TRAPPC11	Anterior hypopituitarism	HP:0000830
60684	TRAPPC11	Gowers sign	HP:0003391
60684	TRAPPC11	Hepatomegaly	HP:0002240
60684	TRAPPC11	Feeding difficulties	HP:0011968
60684	TRAPPC11	Absent speech	HP:0001344
60684	TRAPPC11	Muscle spasm	HP:0003394
60684	TRAPPC11	Hyperreflexia	HP:0001347
60684	TRAPPC11	Muscle fiber atrophy	HP:0100295
60684	TRAPPC11	Developmental regression	HP:0002376
60684	TRAPPC11	Adrenal insufficiency	HP:0000846
60684	TRAPPC11	Waddling gait	HP:0002515
60684	TRAPPC11	Palmoplantar keratoderma	HP:0000982
60684	TRAPPC11	Scoliosis	HP:0002650
60684	TRAPPC11	Motor axonal neuropathy	HP:0007002
60684	TRAPPC11	Speech apraxia	HP:0011098
60684	TRAPPC11	Cerebral white matter atrophy	HP:0012762
60684	TRAPPC11	Elevated hepatic transaminase	HP:0002910
60684	TRAPPC11	Intellectual disability	HP:0001249
60684	TRAPPC11	Pes cavus	HP:0001761
60684	TRAPPC11	Exophoria	HP:0025313
60684	TRAPPC11	Seizures	HP:0001250
60684	TRAPPC11	Short stature	HP:0004322
60684	TRAPPC11	Ataxia	HP:0001251
60684	TRAPPC11	Muscular hypotonia	HP:0001252
60684	TRAPPC11	Iris coloboma	HP:0000612
60684	TRAPPC11	CNS hypomyelination	HP:0003429
60684	TRAPPC11	Strabismus	HP:0000486
60684	TRAPPC11	Intrauterine growth retardation	HP:0001511
60684	TRAPPC11	Hip dysplasia	HP:0001385
60684	TRAPPC11	Intellectual disability, borderline	HP:0006889
60684	TRAPPC11	Hyperlordosis	HP:0003307
60684	TRAPPC11	Dysarthria	HP:0001260
60684	TRAPPC11	Inability to walk	HP:0002540
60684	TRAPPC11	Global developmental delay	HP:0001263
60684	TRAPPC11	Progressive proximal muscle weakness	HP:0009073
60684	TRAPPC11	Hyporeflexia	HP:0001265
60684	TRAPPC11	Infantile muscular hypotonia	HP:0008947
60684	TRAPPC11	Hepatic steatosis	HP:0001397
60684	TRAPPC11	Proximal muscle weakness	HP:0003701
60684	TRAPPC11	Abnormality of the hypothenar eminence	HP:0010486
60684	TRAPPC11	Cerebellar atrophy	HP:0001272
60684	TRAPPC11	Visual impairment	HP:0000505
60684	TRAPPC11	Microcephaly	HP:0000252
60684	TRAPPC11	Myalgia	HP:0003326
60684	TRAPPC11	Myopathy	HP:0003198
3340	NDST1	Intellectual disability	HP:0001249
3340	NDST1	Poor speech	HP:0002465
3340	NDST1	Seizures	HP:0001250
3340	NDST1	Growth delay	HP:0001510
3340	NDST1	Autosomal recessive inheritance	HP:0000007
3340	NDST1	Sleep disturbance	HP:0002360
3340	NDST1	Agitation	HP:0000713
3340	NDST1	Generalized hypotonia	HP:0001290
3340	NDST1	Aggressive behavior	HP:0000718
3340	NDST1	Global developmental delay	HP:0001263
3350	HTR1A	Recurrent spontaneous abortion	HP:0200067
3350	HTR1A	Autosomal dominant inheritance	HP:0000006
3350	HTR1A	Fever	HP:0001945
3350	HTR1A	Migraine	HP:0002076
3350	HTR1A	Increased circulating cortisol level	HP:0003118
134430	WDR36	Open angle glaucoma	HP:0012108
388389	CCDC103	Situs inversus totalis	HP:0001696
388389	CCDC103	Chronic rhinitis	HP:0002257
388389	CCDC103	Abnormal respiratory motile cilium morphology	HP:0005938
388389	CCDC103	Chronic sinusitis	HP:0011109
388389	CCDC103	Autosomal recessive inheritance	HP:0000007
388389	CCDC103	Ciliary dyskinesia	HP:0012265
388389	CCDC103	Congenital onset	HP:0003577
388389	CCDC103	Recurrent respiratory infections	HP:0002205
388389	CCDC103	Bronchiectasis	HP:0002110
388389	CCDC103	Cough	HP:0012735
3371	TNC	Autosomal dominant inheritance	HP:0000006
3371	TNC	Hearing impairment	HP:0000365
3373	HYAL1	Depressed nasal bridge	HP:0005280
3373	HYAL1	Submucous cleft hard palate	HP:0000176
3373	HYAL1	Bifid uvula	HP:0000193
3373	HYAL1	Abnormality of the acetabulum	HP:0003170
3373	HYAL1	Short stature	HP:0004322
3373	HYAL1	Recurrent otitis media	HP:0000403
3373	HYAL1	Keratan sulfate excretion in urine	HP:0012069
3373	HYAL1	Autosomal recessive inheritance	HP:0000007
3373	HYAL1	Abnormality of the skin	HP:0000951
3373	HYAL1	Heparan sulfate excretion in urine	HP:0002159
3376	IARS	Postnatal growth retardation	HP:0008897
3376	IARS	Intellectual disability	HP:0001249
3376	IARS	Decreased liver function	HP:0001410
3376	IARS	Seizures	HP:0001250
3376	IARS	Failure to thrive	HP:0001508
3376	IARS	Intrauterine growth retardation	HP:0001511
3376	IARS	Autosomal recessive inheritance	HP:0000007
3376	IARS	Spasticity	HP:0001257
3376	IARS	Generalized hypotonia	HP:0001290
3376	IARS	Global developmental delay	HP:0001263
3376	IARS	Duplicated collecting system	HP:0000081
3376	IARS	Variable expressivity	HP:0003828
3376	IARS	Hepatic steatosis	HP:0001397
3376	IARS	Sensorineural hearing impairment	HP:0000407
3376	IARS	Congenital onset	HP:0003577
3376	IARS	Microcephaly	HP:0000252
3376	IARS	Elevated hepatic transaminase	HP:0002910
3376	IARS	Hydronephrosis	HP:0000126
85301	COL27A1	Short stature	HP:0004322
85301	COL27A1	Prominent forehead	HP:0011220
85301	COL27A1	Autosomal recessive inheritance	HP:0000007
85301	COL27A1	Scoliosis	HP:0002650
85301	COL27A1	Dislocated radial head	HP:0003083
85301	COL27A1	Hypertelorism	HP:0000316
85301	COL27A1	Wide nasal bridge	HP:0000431
85300	ATCAY	Intention tremor	HP:0002080
85300	ATCAY	Gait ataxia	HP:0002066
85300	ATCAY	Muscular hypotonia	HP:0001252
85300	ATCAY	Nonprogressive cerebellar ataxia	HP:0002470
85300	ATCAY	Autosomal recessive inheritance	HP:0000007
85300	ATCAY	Broad-based gait	HP:0002136
85300	ATCAY	Cerebellar hypoplasia	HP:0001321
85300	ATCAY	Generalized hypotonia	HP:0001290
85300	ATCAY	Dysarthria	HP:0001260
85300	ATCAY	Truncal ataxia	HP:0002078
85300	ATCAY	Global developmental delay	HP:0001263
85300	ATCAY	Nystagmus	HP:0000639
3394	IRF8	Splenomegaly	HP:0001744
3394	IRF8	Immunodeficiency	HP:0002721
3394	IRF8	Abnormality of immune system physiology	HP:0010978
3394	IRF8	Sinusitis	HP:0000246
3394	IRF8	Autosomal dominant inheritance	HP:0000006
3394	IRF8	Autosomal recessive inheritance	HP:0000007
3394	IRF8	Fever	HP:0001945
3394	IRF8	Pneumonia	HP:0002090
3394	IRF8	Lymphadenopathy	HP:0002716
3394	IRF8	Bronchiectasis	HP:0002110
3394	IRF8	Recurrent infections	HP:0002719
100288687	DUX4	EMG abnormality	HP:0003457
100288687	DUX4	Skeletal muscle atrophy	HP:0003202
100288687	DUX4	Abnormal eyelash morphology	HP:0000499
100288687	DUX4	Elevated serum creatine kinase	HP:0003236
100288687	DUX4	Sensorineural hearing impairment	HP:0000407
100288687	DUX4	Abnormality of cardiovascular system morphology	HP:0030680
100288687	DUX4	Mask-like facies	HP:0000298
100288687	DUX4	Hyperlordosis	HP:0003307
100288687	DUX4	Palpebral edema	HP:0100540
100288687	DUX4	Abnormal retinal vascular morphology	HP:0008046
3417	IDH1	Recurrent fractures	HP:0002757
3417	IDH1	Multiple enchondromatosis	HP:0005701
3417	IDH1	Ovarian neoplasm	HP:0100615
3417	IDH1	Venous thrombosis	HP:0004936
3417	IDH1	Abnormality of coagulation	HP:0001928
3417	IDH1	Subcutaneous nodule	HP:0001482
3417	IDH1	Pituitary adenoma	HP:0002893
3417	IDH1	Parathyroid adenoma	HP:0002897
3417	IDH1	Goiter	HP:0000853
3417	IDH1	Visceral angiomatosis	HP:0100761
3417	IDH1	Scoliosis	HP:0002650
3417	IDH1	Bone pain	HP:0002653
3417	IDH1	Lymphangioma	HP:0100764
3417	IDH1	Platyspondyly	HP:0000926
3417	IDH1	Dysphagia	HP:0002015
3417	IDH1	Neoplasm of the adrenal cortex	HP:0100641
3417	IDH1	Short stature	HP:0004322
3417	IDH1	Hemangiomatosis	HP:0007461
3417	IDH1	Micromelia	HP:0002983
3417	IDH1	Exostoses	HP:0100777
3417	IDH1	Cranial nerve paralysis	HP:0006824
3417	IDH1	Skin ulcer	HP:0200042
3417	IDH1	Joint stiffness	HP:0001387
3417	IDH1	Osteolysis	HP:0002797
3417	IDH1	Chondrosarcoma	HP:0006765
3417	IDH1	Anemia	HP:0001903
3417	IDH1	Abnormality of the metaphysis	HP:0000944
3417	IDH1	Cerebral palsy	HP:0100021
3417	IDH1	Astrocytoma	HP:0009592
3417	IDH1	Breast carcinoma	HP:0003002
3417	IDH1	Precocious puberty	HP:0000826
3418	IDH2	Recurrent fractures	HP:0002757
3418	IDH2	Multiple enchondromatosis	HP:0005701
3418	IDH2	Ovarian neoplasm	HP:0100615
3418	IDH2	Autosomal dominant inheritance	HP:0000006
3418	IDH2	Venous thrombosis	HP:0004936
3418	IDH2	Abnormality of coagulation	HP:0001928
3418	IDH2	Subcutaneous nodule	HP:0001482
3418	IDH2	Pituitary adenoma	HP:0002893
3418	IDH2	Parathyroid adenoma	HP:0002897
3418	IDH2	Goiter	HP:0000853
3418	IDH2	Visceral angiomatosis	HP:0100761
3418	IDH2	Scoliosis	HP:0002650
3418	IDH2	Bone pain	HP:0002653
3418	IDH2	Lymphangioma	HP:0100764
3418	IDH2	Platyspondyly	HP:0000926
3418	IDH2	Dysphagia	HP:0002015
3418	IDH2	Neoplasm of the adrenal cortex	HP:0100641
3418	IDH2	D-2-hydroxyglutaric aciduria	HP:0012321
3418	IDH2	Short stature	HP:0004322
3418	IDH2	Seizures	HP:0001250
3418	IDH2	Muscular hypotonia	HP:0001252
3418	IDH2	Hemangiomatosis	HP:0007461
3418	IDH2	Cardiomyopathy	HP:0001638
3418	IDH2	Micromelia	HP:0002983
3418	IDH2	Exostoses	HP:0100777
3418	IDH2	Cranial nerve paralysis	HP:0006824
3418	IDH2	Skin ulcer	HP:0200042
3418	IDH2	Joint stiffness	HP:0001387
3418	IDH2	Osteolysis	HP:0002797
3418	IDH2	Chondrosarcoma	HP:0006765
3418	IDH2	Global developmental delay	HP:0001263
3418	IDH2	Anemia	HP:0001903
3418	IDH2	Abnormality of the metaphysis	HP:0000944
3418	IDH2	Cerebral palsy	HP:0100021
3418	IDH2	Astrocytoma	HP:0009592
3418	IDH2	Breast carcinoma	HP:0003002
3418	IDH2	Precocious puberty	HP:0000826
142680	SLC34A3	Sparse bone trabeculae	HP:0002752
142680	SLC34A3	Thin bony cortex	HP:0002753
142680	SLC34A3	Bulging epiphyses	HP:0003013
142680	SLC34A3	Recurrent fractures	HP:0002757
142680	SLC34A3	Fibular bowing	HP:0010502
142680	SLC34A3	Autosomal recessive inheritance	HP:0000007
142680	SLC34A3	Infantile onset	HP:0003593
142680	SLC34A3	Generalized hypotonia	HP:0001290
142680	SLC34A3	Widely patent fontanelles and sutures	HP:0004492
142680	SLC34A3	Enlargement of the wrists	HP:0003020
142680	SLC34A3	Increased serum 1,25-dihydroxyvitamin D3	HP:0003152
142680	SLC34A3	Metaphyseal irregularity	HP:0003025
142680	SLC34A3	Elevated alkaline phosphatase	HP:0003155
142680	SLC34A3	Enlargement of the ankles	HP:0003029
142680	SLC34A3	Frontal bossing	HP:0002007
142680	SLC34A3	Enlargement of the costochondral junction	HP:0000920
142680	SLC34A3	Bone pain	HP:0002653
142680	SLC34A3	Flat occiput	HP:0005469
142680	SLC34A3	Abnormality of abdomen morphology	HP:0001438
142680	SLC34A3	Short stature	HP:0004322
142680	SLC34A3	Bowing of the legs	HP:0002979
142680	SLC34A3	Hypophosphatemia	HP:0002148
142680	SLC34A3	Failure to thrive	HP:0001508
142680	SLC34A3	Muscular hypotonia	HP:0001252
142680	SLC34A3	Femoral bowing	HP:0002980
142680	SLC34A3	Hypercalciuria	HP:0002150
142680	SLC34A3	Growth delay	HP:0001510
142680	SLC34A3	Tibial bowing	HP:0002982
142680	SLC34A3	Delayed epiphyseal ossification	HP:0002663
142680	SLC34A3	Muscle weakness	HP:0001324
142680	SLC34A3	Hypophosphatemic rickets	HP:0004912
142680	SLC34A3	Difficulty standing	HP:0003698
142680	SLC34A3	Difficulty walking	HP:0002355
142680	SLC34A3	Calcium nephrolithiasis	HP:0004724
142680	SLC34A3	Renal phosphate wasting	HP:0000117
142680	SLC34A3	Deformed rib cage	HP:0000886
142680	SLC34A3	Rickets	HP:0002748
142680	SLC34A3	Renal tubular dysfunction	HP:0000124
142680	SLC34A3	Osteomalacia	HP:0002749
142680	SLC34A3	Bulging of the costochondral junction	HP:0000893
3420	IDH3B	Abnormal electroretinogram	HP:0000512
3420	IDH3B	Hyperreflexia	HP:0001347
3420	IDH3B	Cataract	HP:0000518
3420	IDH3B	Autosomal recessive inheritance	HP:0000007
3420	IDH3B	Hypogonadism	HP:0000135
3420	IDH3B	Optic atrophy	HP:0000648
3420	IDH3B	Hyperinsulinemia	HP:0000842
3420	IDH3B	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
3420	IDH3B	Anteverted nares	HP:0000463
3420	IDH3B	Conductive hearing impairment	HP:0000405
3420	IDH3B	Abnormality of retinal pigmentation	HP:0007703
3420	IDH3B	Sensorineural hearing impairment	HP:0000407
3420	IDH3B	Ophthalmoplegia	HP:0000602
3420	IDH3B	Type II diabetes mellitus	HP:0005978
3420	IDH3B	Atypical scarring of skin	HP:0000987
3420	IDH3B	Optic disc pallor	HP:0000543
3420	IDH3B	Hypoplasia of penis	HP:0008736
3420	IDH3B	Intellectual disability	HP:0001249
3420	IDH3B	Attenuation of retinal blood vessels	HP:0007843
3420	IDH3B	Abnormal testis morphology	HP:0000035
3420	IDH3B	Photophobia	HP:0000613
3420	IDH3B	Obesity	HP:0001513
3420	IDH3B	Blindness	HP:0000618
3420	IDH3B	Constriction of peripheral visual field	HP:0001133
3420	IDH3B	Abnormal retinal vascular morphology	HP:0008046
3420	IDH3B	Wide nasal bridge	HP:0000431
3420	IDH3B	Keratoconus	HP:0000563
3420	IDH3B	Glaucoma	HP:0000501
3420	IDH3B	Progressive night blindness	HP:0007675
3420	IDH3B	Rod-cone dystrophy	HP:0000510
3420	IDH3B	Nystagmus	HP:0000639
3423	IDS	Macrocephaly	HP:0000256
3423	IDS	Hepatomegaly	HP:0002240
3423	IDS	Umbilical hernia	HP:0001537
3423	IDS	Neurodegeneration	HP:0002180
3423	IDS	Hoarse voice	HP:0001609
3423	IDS	Intellectual disability, profound	HP:0002187
3423	IDS	X-linked recessive inheritance	HP:0001419
3423	IDS	Dolichocephaly	HP:0000268
3423	IDS	Scaphocephaly	HP:0030799
3423	IDS	Splenomegaly	HP:0001744
3423	IDS	Recurrent otitis media	HP:0000403
3423	IDS	Split hand	HP:0001171
3423	IDS	Urinary glycosaminoglycan excretion	HP:0003541
3423	IDS	Short neck	HP:0000470
3423	IDS	Inguinal hernia	HP:0000023
3423	IDS	Abnormality of retinal pigmentation	HP:0007703
3423	IDS	Coarse facial features	HP:0000280
3423	IDS	Flexion contracture	HP:0001371
3423	IDS	Diarrhea	HP:0002014
3423	IDS	Macroglossia	HP:0000158
3423	IDS	Pes cavus	HP:0001761
3423	IDS	Seizures	HP:0001250
3423	IDS	Tracheobronchomalacia	HP:0002786
3423	IDS	Congestive heart failure	HP:0001635
3423	IDS	Intestinal pseudo-obstruction	HP:0004389
3423	IDS	Cervical cord compression	HP:0002341
3423	IDS	Hypertrichosis	HP:0000998
3423	IDS	Delayed eruption of teeth	HP:0000684
3423	IDS	Hearing impairment	HP:0000365
3423	IDS	Dermatan sulfate excretion in urine	HP:0008301
3423	IDS	Mild short stature	HP:0003502
3423	IDS	Hydrocephalus	HP:0000238
3423	IDS	Dysostosis multiplex	HP:0000943
3423	IDS	Widely spaced teeth	HP:0000687
3423	IDS	Heparan sulfate excretion in urine	HP:0002159
3423	IDS	Thick lower lip vermilion	HP:0000179
3423	IDS	Asthma	HP:0002099
3423	IDS	Severe short stature	HP:0003510
3423	IDS	Abnormal heart valve morphology	HP:0001654
3423	IDS	Obstructive sleep apnea	HP:0002870
3423	IDS	Kyphosis	HP:0002808
3423	IDS	Ptosis	HP:0000508
3423	IDS	Papilledema	HP:0001085
3425	IDUA	Macrocephaly	HP:0000256
3425	IDUA	Umbilical hernia	HP:0001537
3425	IDUA	Abnormality of the ribs	HP:0000772
3425	IDUA	Autosomal recessive inheritance	HP:0000007
3425	IDUA	Spastic paraparesis	HP:0002313
3425	IDUA	Dolichocephaly	HP:0000268
3425	IDUA	Corneal opacity	HP:0007957
3425	IDUA	Inguinal hernia	HP:0000023
3425	IDUA	Coarse facial features	HP:0000280
3425	IDUA	Broad face	HP:0000283
3425	IDUA	Retinal degeneration	HP:0000546
3425	IDUA	Cervical cord compression	HP:0002341
3425	IDUA	Full cheeks	HP:0000293
3425	IDUA	Progressive neurologic deterioration	HP:0002344
3425	IDUA	Genu valgum	HP:0002857
3425	IDUA	Abnormality of epiphysis morphology	HP:0005930
3425	IDUA	Pulmonary arterial hypertension	HP:0002092
3425	IDUA	Mandibular prognathia	HP:0000303
3425	IDUA	Flared iliac wings	HP:0002869
3425	IDUA	Obstructive sleep apnea	HP:0002870
3425	IDUA	Hypertension	HP:0000822
3425	IDUA	Sleep disturbance	HP:0002360
3425	IDUA	Thick eyebrow	HP:0000574
3425	IDUA	Opacification of the corneal stroma	HP:0007759
3425	IDUA	Abnormality of the elbow	HP:0009811
3425	IDUA	Spinal canal stenosis	HP:0003416
3425	IDUA	Abnormal pyramidal sign	HP:0007256
3425	IDUA	Scoliosis	HP:0002650
3425	IDUA	Flexion contracture	HP:0001371
3425	IDUA	Micrognathia	HP:0000347
3425	IDUA	Skeletal dysplasia	HP:0002652
3425	IDUA	Enlarged tonsils	HP:0030812
3425	IDUA	Limitation of joint mobility	HP:0001376
3425	IDUA	Rhinitis	HP:0012384
3425	IDUA	Hypoplasia of the femoral head	HP:0008802
3425	IDUA	Cardiomyopathy	HP:0001638
3425	IDUA	Joint stiffness	HP:0001387
3425	IDUA	Hearing impairment	HP:0000365
3425	IDUA	Coxa valga	HP:0002673
3425	IDUA	Aortic valve stenosis	HP:0001650
3425	IDUA	Mitral regurgitation	HP:0001653
3425	IDUA	Abnormal heart valve morphology	HP:0001654
3425	IDUA	Large face	HP:0100729
3425	IDUA	J-shaped sella turcica	HP:0002680
3425	IDUA	Abnormality of the clavicle	HP:0000889
3425	IDUA	Aortic regurgitation	HP:0001659
3425	IDUA	Short clavicles	HP:0000894
3425	IDUA	Neurodegeneration	HP:0002180
3425	IDUA	Abnormal CNS myelination	HP:0011400
3425	IDUA	Calvarial hyperostosis	HP:0004490
3425	IDUA	Camptodactyly of finger	HP:0100490
3425	IDUA	Abnormal vertebral morphology	HP:0003468
3425	IDUA	Angina pectoris	HP:0001681
3425	IDUA	Sensorineural hearing impairment	HP:0000407
3425	IDUA	Constrictive median neuropathy	HP:0012185
3425	IDUA	Hepatosplenomegaly	HP:0001433
3425	IDUA	Wide mouth	HP:0000154
3425	IDUA	Diaphyseal thickening	HP:0005019
3425	IDUA	Abnormality of the tonsils	HP:0100765
3425	IDUA	Recurrent respiratory infections	HP:0002205
3425	IDUA	Macroglossia	HP:0000158
3425	IDUA	Depressed nasal bridge	HP:0005280
3425	IDUA	Recurrent ear infections	HP:0410018
3425	IDUA	Endocardial fibroelastosis	HP:0001706
3425	IDUA	Abnormal diaphysis morphology	HP:0000940
3425	IDUA	Dysostosis multiplex	HP:0000943
3425	IDUA	Wide nasal bridge	HP:0000431
3425	IDUA	Microdontia	HP:0000691
3425	IDUA	Cerebral palsy	HP:0100021
3425	IDUA	Generalized hirsutism	HP:0002230
3425	IDUA	Hernia	HP:0100790
3425	IDUA	Thick vermilion border	HP:0012471
3425	IDUA	Wide nose	HP:0000445
3425	IDUA	Hepatomegaly	HP:0002240
3425	IDUA	Feeding difficulties	HP:0011968
3425	IDUA	Abnormal nerve conduction velocity	HP:0040129
3425	IDUA	Broad nasal tip	HP:0000455
3425	IDUA	Narrow pelvis bone	HP:0003275
3425	IDUA	Depressivity	HP:0000716
3425	IDUA	Anteverted nares	HP:0000463
3425	IDUA	Splenomegaly	HP:0001744
3425	IDUA	Gingival overgrowth	HP:0000212
3425	IDUA	Urinary glycosaminoglycan excretion	HP:0003541
3425	IDUA	Short neck	HP:0000470
3425	IDUA	Frontal bossing	HP:0002007
3425	IDUA	Tracheal stenosis	HP:0002777
3425	IDUA	Mucopolysacchariduria	HP:0008155
3425	IDUA	Pes cavus	HP:0001761
3425	IDUA	Intellectual disability	HP:0001249
3425	IDUA	Short stature	HP:0004322
3425	IDUA	Muscular hypotonia	HP:0001252
3425	IDUA	Everted lower lip vermilion	HP:0000232
3425	IDUA	Retinopathy	HP:0000488
3425	IDUA	Abnormality of skin pigmentation	HP:0001000
3425	IDUA	Biconcave vertebral bodies	HP:0004586
3425	IDUA	Chronic diarrhea	HP:0002028
3425	IDUA	Hydrocephalus	HP:0000238
3425	IDUA	Global developmental delay	HP:0001263
3425	IDUA	Hirsutism	HP:0001007
3425	IDUA	Hypoplasia of the odontoid process	HP:0003311
3425	IDUA	Death in infancy	HP:0001522
3425	IDUA	Glaucoma	HP:0000501
3425	IDUA	C1-C2 subluxation	HP:0003320
3425	IDUA	Kyphosis	HP:0002808
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	Recurrent skin infections	HP:0001581
3426	CFI	Decreased serum complement C3	HP:0005421
3426	CFI	Recurrent otitis media	HP:0000403
3426	CFI	Renal insufficiency	HP:0000083
3426	CFI	Sinusitis	HP:0000246
3426	CFI	Recurrent streptococcus pneumoniae infections	HP:0005366
3426	CFI	Arthritis	HP:0001369
3426	CFI	Decreased serum complement factor H	HP:0005369
3431	SP110	Hepatomegaly	HP:0002240
3431	SP110	Portal hypertension	HP:0001409
3431	SP110	Panhypogammaglobulinemia	HP:0003139
3431	SP110	Ascites	HP:0001541
3431	SP110	Autosomal recessive inheritance	HP:0000007
3431	SP110	Urinary retention	HP:0000016
3431	SP110	Paraparesis	HP:0002385
3431	SP110	Thrombocytopenia	HP:0001873
3431	SP110	Abnormal serum interferon-gamma level	HP:0030355
3431	SP110	Chronic hepatic failure	HP:0100626
3431	SP110	Recurrent gastroenteritis	HP:0031123
3431	SP110	Pancytopenia	HP:0001876
3431	SP110	Generalized tonic-clonic seizures	HP:0002069
3431	SP110	Abnormal natural killer cell count	HP:0040089
3431	SP110	Hepatosplenomegaly	HP:0001433
3431	SP110	Decreased circulating IgG level	HP:0004315
3431	SP110	Decrease in T cell count	HP:0005403
3431	SP110	Endocardial fibrosis	HP:0006685
3431	SP110	Recurrent respiratory infections	HP:0002205
3431	SP110	Elevated hepatic transaminase	HP:0002910
3431	SP110	Diarrhea	HP:0002014
3431	SP110	Pulmonary fibrosis	HP:0002206
3431	SP110	Pulmonary hemorrhage	HP:0040223
3431	SP110	Immunodeficiency	HP:0002721
3431	SP110	Absence of lymph node germinal center	HP:0002849
3431	SP110	Recurrent abscess formation	HP:0002722
3431	SP110	Recurrent ear infections	HP:0410018
3431	SP110	Decreased proportion of memory B cells	HP:0030374
3431	SP110	Chronic mucocutaneous candidiasis	HP:0002728
3431	SP110	Anemia	HP:0001903
3431	SP110	Leukodystrophy	HP:0002415
3431	SP110	Abnormality of the liver	HP:0001392
3431	SP110	Inappropriate antidiuretic hormone secretion	HP:0031218
3431	SP110	Recurrent aspiration pneumonia	HP:0002100
3431	SP110	Hemiparesis	HP:0001269
3431	SP110	Paraplegia	HP:0010550
3431	SP110	Recurrent enteroviral infections	HP:0002743
3431	SP110	Jaundice	HP:0000952
3431	SP110	Failure to thrive in infancy	HP:0001531
3431	SP110	Microcephaly	HP:0000252
3431	SP110	Abnormal serum interleukin level	HP:0030782
3431	SP110	Cough	HP:0012735
85358	SHANK3	Macrocephaly	HP:0000256
85358	SHANK3	Umbilical hernia	HP:0001537
85358	SHANK3	Hair-pulling	HP:0012167
85358	SHANK3	Hypoplastic toenails	HP:0001800
85358	SHANK3	Generalized hypotonia	HP:0001290
85358	SHANK3	Episodic vomiting	HP:0002572
85358	SHANK3	Delayed CNS myelination	HP:0002188
85358	SHANK3	Dolichocephaly	HP:0000268
85358	SHANK3	Unsteady gait	HP:0002317
85358	SHANK3	Long eyelashes	HP:0000527
85358	SHANK3	Malar flattening	HP:0000272
85358	SHANK3	Macrotia	HP:0000400
85358	SHANK3	Large hands	HP:0001176
85358	SHANK3	Protruding ear	HP:0000411
85358	SHANK3	Hypermetropia	HP:0000540
85358	SHANK3	Epicanthus	HP:0000286
85358	SHANK3	Bulbous nose	HP:0000414
85358	SHANK3	Impaired pain sensation	HP:0007328
85358	SHANK3	Sporadic	HP:0003745
85358	SHANK3	Immunodeficiency	HP:0002721
85358	SHANK3	Abnormality of the dentition	HP:0000164
85358	SHANK3	Full cheeks	HP:0000293
85358	SHANK3	Intellectual disability, moderate	HP:0002342
85358	SHANK3	Dental crowding	HP:0000678
85358	SHANK3	Neonatal hypotonia	HP:0001319
85358	SHANK3	Recurrent skin infections	HP:0001581
85358	SHANK3	Wide nasal bridge	HP:0000431
85358	SHANK3	Poor eye contact	HP:0000817
85358	SHANK3	Dental malocclusion	HP:0000689
85358	SHANK3	Bruxism	HP:0003763
85358	SHANK3	Cellulitis	HP:0100658
85358	SHANK3	Pointed chin	HP:0000307
85358	SHANK3	Toenail dysplasia	HP:0100797
85358	SHANK3	Palpebral edema	HP:0100540
85358	SHANK3	Thick eyebrow	HP:0000574
85358	SHANK3	Sacral dimple	HP:0000960
85358	SHANK3	Feeding difficulties	HP:0011968
85358	SHANK3	Hyperorality	HP:0000710
85358	SHANK3	Hypohidrosis	HP:0000966
85358	SHANK3	Ventriculomegaly	HP:0002119
85358	SHANK3	Short chin	HP:0000331
85358	SHANK3	Vesicoureteral reflux	HP:0000076
85358	SHANK3	Autism	HP:0000717
85358	SHANK3	Aggressive behavior	HP:0000718
85358	SHANK3	Prominent supraorbital ridges	HP:0000336
85358	SHANK3	2-3 toe syndactyly	HP:0004691
85358	SHANK3	Abnormality of the periventricular white matter	HP:0002518
85358	SHANK3	Cerebellar cortical atrophy	HP:0008278
85358	SHANK3	Long philtrum	HP:0000343
85358	SHANK3	Broad-based gait	HP:0002136
85358	SHANK3	Autistic behavior	HP:0000729
85358	SHANK3	High palate	HP:0000218
85358	SHANK3	Ventricular septal defect	HP:0001629
85358	SHANK3	Tongue thrusting	HP:0100703
85358	SHANK3	Arachnoid cyst	HP:0100702
85358	SHANK3	Cerebral visual impairment	HP:0100704
85358	SHANK3	Nausea and vomiting	HP:0002017
85358	SHANK3	Intellectual disability	HP:0001249
85358	SHANK3	Seizures	HP:0001250
85358	SHANK3	Tall stature	HP:0000098
85358	SHANK3	Gastroesophageal reflux	HP:0002020
85358	SHANK3	Strabismus	HP:0000486
85358	SHANK3	Obesity	HP:0001513
85358	SHANK3	Deeply set eye	HP:0000490
85358	SHANK3	Patent ductus arteriosus	HP:0001643
85358	SHANK3	Lymphedema	HP:0001004
85358	SHANK3	Hearing impairment	HP:0000365
85358	SHANK3	Delayed speech and language development	HP:0000750
85358	SHANK3	Renal dysplasia	HP:0000110
85358	SHANK3	Global developmental delay	HP:0001263
85358	SHANK3	Concave nasal ridge	HP:0011120
85358	SHANK3	Accelerated skeletal maturation	HP:0005616
85358	SHANK3	Hyperactivity	HP:0000752
85358	SHANK3	Polycystic kidney dysplasia	HP:0000113
85358	SHANK3	Clinodactyly of the 5th finger	HP:0004209
85358	SHANK3	Hyporeflexia	HP:0001265
85358	SHANK3	Recurrent pyelonephritis	HP:0012787
85358	SHANK3	Motor delay	HP:0001270
85358	SHANK3	Agenesis of corpus callosum	HP:0001274
85358	SHANK3	Ptosis	HP:0000508
85358	SHANK3	Microcephaly	HP:0000252
85358	SHANK3	Heat intolerance	HP:0002046
85358	SHANK3	Hydronephrosis	HP:0000126
85365	ALG2	Ragged-red muscle fibers	HP:0003200
85365	ALG2	Areflexia	HP:0001284
85365	ALG2	Facial palsy	HP:0010628
85365	ALG2	Cataract	HP:0000518
85365	ALG2	Autosomal recessive inheritance	HP:0000007
85365	ALG2	Abnormality of coagulation	HP:0001928
85365	ALG2	Generalized hypotonia	HP:0001290
85365	ALG2	Fatigable weakness	HP:0003473
85365	ALG2	Distal muscle weakness	HP:0002460
85365	ALG2	Elevated serum creatine kinase	HP:0003236
85365	ALG2	Difficulty walking	HP:0002355
85365	ALG2	Frequent falls	HP:0002359
85365	ALG2	Easy fatigability	HP:0003388
85365	ALG2	Cognitive impairment	HP:0100543
85365	ALG2	Gowers sign	HP:0003391
85365	ALG2	Hepatomegaly	HP:0002240
85365	ALG2	Muscle spasm	HP:0003394
85365	ALG2	Hyperreflexia	HP:0001347
85365	ALG2	Generalized weakness of limb muscles	HP:0009028
85365	ALG2	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
85365	ALG2	Muscle fiber tubular inclusions	HP:0100301
85365	ALG2	Coloboma	HP:0000589
85365	ALG2	Waddling gait	HP:0002515
85365	ALG2	Difficulty running	HP:0009046
85365	ALG2	Hypsarrhythmia	HP:0002521
85365	ALG2	Scoliosis	HP:0002650
85365	ALG2	High palate	HP:0000218
85365	ALG2	Flexion contracture	HP:0001371
85365	ALG2	Type 1 muscle fiber predominance	HP:0003803
85365	ALG2	Slow progression	HP:0003677
85365	ALG2	Difficulty climbing stairs	HP:0003551
85365	ALG2	Intellectual disability	HP:0001249
85365	ALG2	Seizures	HP:0001250
85365	ALG2	Pes planus	HP:0001763
85365	ALG2	Iris coloboma	HP:0000612
85365	ALG2	Scapular winging	HP:0003691
85365	ALG2	Hyperlordosis	HP:0003307
85365	ALG2	Knee flexion contracture	HP:0006380
85365	ALG2	Joint laxity	HP:0001388
85365	ALG2	Global developmental delay	HP:0001263
85365	ALG2	Mildly elevated creatine kinase	HP:0008180
85365	ALG2	Poor head control	HP:0002421
85365	ALG2	Motor delay	HP:0001270
85365	ALG2	Visual impairment	HP:0000505
85365	ALG2	Lumbar hyperlordosis	HP:0002938
85365	ALG2	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0030202
85365	ALG2	Ptosis	HP:0000508
85365	ALG2	Limb-girdle muscle weakness	HP:0003325
85365	ALG2	Increased jitter at single fibre EMG	HP:0030205
85365	ALG2	Myopathy	HP:0003198
85365	ALG2	Nystagmus	HP:0000639
85366	MYLK2	Subvalvular aortic stenosis	HP:0001682
85366	MYLK2	Sudden death	HP:0001699
85366	MYLK2	Abnormality of metabolism/homeostasis	HP:0001939
85366	MYLK2	Congestive heart failure	HP:0001635
85366	MYLK2	Autosomal dominant inheritance	HP:0000006
85366	MYLK2	Asymmetric septal hypertrophy	HP:0001670
85366	MYLK2	Arrhythmia	HP:0011675
126326	GIPC3	Autosomal recessive inheritance	HP:0000007
126326	GIPC3	Prelingual sensorineural hearing impairment	HP:0000399
126328	NDUFA11	Encephalopathy	HP:0001298
126328	NDUFA11	Seizures	HP:0001250
126328	NDUFA11	Increased serum lactate	HP:0002151
126328	NDUFA11	Optic atrophy	HP:0000648
126328	NDUFA11	Generalized hypotonia	HP:0001290
126328	NDUFA11	Brain atrophy	HP:0012444
126328	NDUFA11	Abnormal mitochondria in muscle tissue	HP:0008316
126328	NDUFA11	Myopathy	HP:0003198
126328	NDUFA11	Nystagmus	HP:0000639
3455	IFNAR2	Autosomal recessive inheritance	HP:0000007
85378	TUBGCP6	Aplasia/Hypoplasia of the cerebellum	HP:0007360
85378	TUBGCP6	Cataract	HP:0000518
85378	TUBGCP6	Biparietal narrowing	HP:0004422
85378	TUBGCP6	Autosomal recessive inheritance	HP:0000007
85378	TUBGCP6	Cerebral cortical atrophy	HP:0002120
85378	TUBGCP6	Optic atrophy	HP:0000648
85378	TUBGCP6	Cerebral atrophy	HP:0002059
85378	TUBGCP6	Anteverted nares	HP:0000463
85378	TUBGCP6	Sloping forehead	HP:0000340
85378	TUBGCP6	Pachygyria	HP:0001302
85378	TUBGCP6	Abnormality of retinal pigmentation	HP:0007703
85378	TUBGCP6	Simplified gyral pattern	HP:0009879
85378	TUBGCP6	Scoliosis	HP:0002650
85378	TUBGCP6	Protruding ear	HP:0000411
85378	TUBGCP6	Retinal detachment	HP:0000541
85378	TUBGCP6	Abnormality of neuronal migration	HP:0002269
85378	TUBGCP6	Optic disc pallor	HP:0000543
85378	TUBGCP6	Intellectual disability	HP:0001249
85378	TUBGCP6	Short stature	HP:0004322
85378	TUBGCP6	Seizures	HP:0001250
85378	TUBGCP6	Strabismus	HP:0000486
85378	TUBGCP6	Intrauterine growth retardation	HP:0001511
85378	TUBGCP6	Abnormality of skin pigmentation	HP:0001000
85378	TUBGCP6	Cerebellar hypoplasia	HP:0001321
85378	TUBGCP6	Retinal dystrophy	HP:0000556
85378	TUBGCP6	Global developmental delay	HP:0001263
85378	TUBGCP6	Wide nasal bridge	HP:0000431
85378	TUBGCP6	Chorioretinal dysplasia	HP:0007731
85378	TUBGCP6	Pointed chin	HP:0000307
85378	TUBGCP6	Abnormal eyelash morphology	HP:0000499
85378	TUBGCP6	Retinal fold	HP:0008052
85378	TUBGCP6	Microphthalmia	HP:0000568
85378	TUBGCP6	Congenital onset	HP:0003577
85378	TUBGCP6	Visual impairment	HP:0000505
85378	TUBGCP6	Microcephaly	HP:0000252
85378	TUBGCP6	Hypertonia	HP:0001276
85378	TUBGCP6	Nystagmus	HP:0000639
3459	IFNGR1	Hypoalbuminemia	HP:0003073
3459	IFNGR1	Pulmonary infiltrates	HP:0002113
3459	IFNGR1	Osteomyelitis	HP:0002754
3459	IFNGR1	Autosomal dominant inheritance	HP:0000006
3459	IFNGR1	Autosomal recessive inheritance	HP:0000007
3459	IFNGR1	Recurrent mycobacterial infections	HP:0011274
3459	IFNGR1	Splenomegaly	HP:0001744
3459	IFNGR1	Enlarged mesenteric lymph node	HP:0025043
3459	IFNGR1	Abnormal bronchus physiology	HP:0025427
3459	IFNGR1	Night sweats	HP:0030166
3459	IFNGR1	Hepatosplenomegaly	HP:0001433
3459	IFNGR1	Fever	HP:0001945
3459	IFNGR1	Lymphadenopathy	HP:0002716
3459	IFNGR1	Salmonella osteomyelitis	HP:0005661
3459	IFNGR1	Diarrhea	HP:0002014
3459	IFNGR1	Abnormality of abdomen morphology	HP:0001438
3459	IFNGR1	Weight loss	HP:0001824
3459	IFNGR1	Immunodeficiency	HP:0002721
3459	IFNGR1	Hypoplasia of the femoral head	HP:0008802
3459	IFNGR1	Increased circulating IgG level	HP:0003237
3459	IFNGR1	Thrombocytosis	HP:0001894
3459	IFNGR1	Increased circulating IgM level	HP:0003496
3459	IFNGR1	Pneumonia	HP:0002090
3459	IFNGR1	Rheumatoid factor positive	HP:0002923
3459	IFNGR1	Generalized lymphadenopathy	HP:0008940
3459	IFNGR1	Elevated erythrocyte sedimentation rate	HP:0003565
3459	IFNGR1	Anemia	HP:0001903
3459	IFNGR1	Leukocytosis	HP:0001974
3459	IFNGR1	Histiocytosis	HP:0100727
3459	IFNGR1	Anorexia	HP:0002039
3460	IFNGR2	Immunodeficiency	HP:0002721
3460	IFNGR2	Autosomal recessive inheritance	HP:0000007
3460	IFNGR2	Recurrent mycobacterial infections	HP:0011274
93587	TRMT10A	Intellectual disability	HP:0001249
93587	TRMT10A	Seizures	HP:0001250
93587	TRMT10A	Short stature	HP:0004322
93587	TRMT10A	Dorsocervical fat pad	HP:0025383
93587	TRMT10A	Autosomal recessive inheritance	HP:0000007
93587	TRMT10A	Osteoporosis	HP:0000939
93587	TRMT10A	Delayed thelarche	HP:0025515
93587	TRMT10A	Joint laxity	HP:0001388
93587	TRMT10A	Primary amenorrhea	HP:0000786
93587	TRMT10A	Short neck	HP:0000470
93587	TRMT10A	Motor delay	HP:0001270
93587	TRMT10A	Hyperinsulinemic hypoglycemia	HP:0000825
93587	TRMT10A	Scoliosis	HP:0002650
93587	TRMT10A	Microcephaly	HP:0000252
93587	TRMT10A	Wide nose	HP:0000445
3475	IFRD1	Pes cavus	HP:0001761
3475	IFRD1	Skeletal muscle atrophy	HP:0003202
3475	IFRD1	Areflexia	HP:0001284
3475	IFRD1	Sensorimotor neuropathy	HP:0007141
3475	IFRD1	Hyporeflexia of lower limbs	HP:0002600
3475	IFRD1	Head tremor	HP:0002346
3475	IFRD1	Titubation	HP:0030187
3475	IFRD1	Dysarthria	HP:0001260
3475	IFRD1	Muscle weakness	HP:0001324
3475	IFRD1	Hearing impairment	HP:0000365
3475	IFRD1	Sensory impairment	HP:0003474
3475	IFRD1	Muscle fibrillation	HP:0010546
3475	IFRD1	Gait ataxia	HP:0002066
3475	IFRD1	Peripheral axonal neuropathy	HP:0003477
3475	IFRD1	Cerebellar atrophy	HP:0001272
3475	IFRD1	Lower limb hyperreflexia	HP:0002395
3475	IFRD1	Dysmetria	HP:0001310
3475	IFRD1	Nystagmus	HP:0000639
93589	CACNA2D4	Abnormality of macular pigmentation	HP:0008002
93589	CACNA2D4	Cone/cone-rod dystrophy	HP:0000548
93589	CACNA2D4	Photophobia	HP:0000613
93589	CACNA2D4	Strabismus	HP:0000486
93589	CACNA2D4	Retinal pigment epithelial mottling	HP:0007814
93589	CACNA2D4	Color vision defect	HP:0000551
93589	CACNA2D4	Autosomal recessive inheritance	HP:0000007
93589	CACNA2D4	Constriction of peripheral visual field	HP:0001133
93589	CACNA2D4	Reduced visual acuity	HP:0007663
93589	CACNA2D4	Electronegative electroretinogram	HP:0007984
93589	CACNA2D4	Nyctalopia	HP:0000662
93589	CACNA2D4	Optic disc hypoplasia	HP:0007766
93589	CACNA2D4	Abnormality of retinal pigmentation	HP:0007703
93589	CACNA2D4	Visual impairment	HP:0000505
93589	CACNA2D4	High myopia	HP:0011003
93589	CACNA2D4	Nystagmus	HP:0000639
3476	IGBP1	Macrocephaly	HP:0000256
3476	IGBP1	Choanal atresia	HP:0000453
3476	IGBP1	X-linked recessive inheritance	HP:0001419
3476	IGBP1	Optic nerve coloboma	HP:0000588
3476	IGBP1	Retrognathia	HP:0000278
3476	IGBP1	Short neck	HP:0000470
3476	IGBP1	Sensorineural hearing impairment	HP:0000407
3476	IGBP1	High palate	HP:0000218
3476	IGBP1	Scoliosis	HP:0002650
3476	IGBP1	Broad neck	HP:0000475
3476	IGBP1	High forehead	HP:0000348
3476	IGBP1	Ventricular septal defect	HP:0001629
3476	IGBP1	Intellectual disability	HP:0001249
3476	IGBP1	Short stature	HP:0004322
3476	IGBP1	Iris coloboma	HP:0000612
3476	IGBP1	Prominent nasal bridge	HP:0000426
3476	IGBP1	Patent ductus arteriosus	HP:0001643
3476	IGBP1	Downslanted palpebral fissures	HP:0000494
3476	IGBP1	Cleft palate	HP:0000175
3476	IGBP1	Low-set ears	HP:0000369
3476	IGBP1	Visual impairment	HP:0000505
3476	IGBP1	Agenesis of corpus callosum	HP:0001274
3476	IGBP1	Cupped ear	HP:0000378
3476	IGBP1	Pectus excavatum	HP:0000767
3476	IGBP1	Nystagmus	HP:0000639
3479	IGF1	Neonatal hyperbilirubinemia	HP:0003265
3479	IGF1	Clinodactyly	HP:0030084
3479	IGF1	Hypogonadism	HP:0000135
3479	IGF1	Autosomal recessive inheritance	HP:0000007
3479	IGF1	Severe intrauterine growth retardation	HP:0008846
3479	IGF1	Prelingual sensorineural hearing impairment	HP:0000399
3479	IGF1	Abnormal facial shape	HP:0001999
3479	IGF1	Congenital sensorineural hearing impairment	HP:0008527
3479	IGF1	Severe postnatal growth retardation	HP:0008850
3479	IGF1	Abnormality of metabolism/homeostasis	HP:0001939
3479	IGF1	Prominent forehead	HP:0011220
3479	IGF1	Insulin resistance	HP:0000855
3479	IGF1	Hypoglycemia	HP:0001943
3479	IGF1	Sensorineural hearing impairment	HP:0000407
3479	IGF1	Micrognathia	HP:0000347
3479	IGF1	Short attention span	HP:0000736
3479	IGF1	Myopia	HP:0000545
3479	IGF1	Intellectual disability	HP:0001249
3479	IGF1	Short stature	HP:0004322
3479	IGF1	Failure to thrive	HP:0001508
3479	IGF1	Truncal obesity	HP:0001956
3479	IGF1	Decreased body weight	HP:0004325
3479	IGF1	Low anterior hairline	HP:0000294
3479	IGF1	Congenital bilateral ptosis	HP:0007911
3479	IGF1	Intrauterine growth retardation	HP:0001511
3479	IGF1	Intellectual disability, mild	HP:0001256
3479	IGF1	Attention deficit hyperactivity disorder	HP:0007018
3479	IGF1	Osteopenia	HP:0000938
3479	IGF1	Osteoporosis	HP:0000939
3479	IGF1	Bilateral sensorineural hearing impairment	HP:0008619
3479	IGF1	Delayed eruption of teeth	HP:0000684
3479	IGF1	Small for gestational age	HP:0001518
3479	IGF1	Concave nasal ridge	HP:0011120
3479	IGF1	Hyperactivity	HP:0000752
3479	IGF1	Clinodactyly of the 5th finger	HP:0004209
3479	IGF1	Low posterior hairline	HP:0002162
3479	IGF1	Motor delay	HP:0001270
3479	IGF1	Congenital onset	HP:0003577
3479	IGF1	Single transverse palmar crease	HP:0000954
3479	IGF1	Small placenta	HP:0006266
3479	IGF1	Radial deviation of finger	HP:0009466
3479	IGF1	Microcephaly	HP:0000252
3479	IGF1	Ptosis	HP:0000508
3479	IGF1	Cafe-au-lait spot	HP:0000957
3479	IGF1	Delayed skeletal maturation	HP:0002750
3480	IGF1R	Clinodactyly	HP:0030084
3480	IGF1R	Autosomal dominant inheritance	HP:0000006
3480	IGF1R	Autosomal recessive inheritance	HP:0000007
3480	IGF1R	Abnormality of the rib cage	HP:0001547
3480	IGF1R	Retrognathia	HP:0000278
3480	IGF1R	Synophrys	HP:0000664
3480	IGF1R	Hypoplasia of the corpus callosum	HP:0002079
3480	IGF1R	Narrow mouth	HP:0000160
3480	IGF1R	Truncal obesity	HP:0001956
3480	IGF1R	Lipodystrophy	HP:0009125
3480	IGF1R	Reduced subcutaneous adipose tissue	HP:0003758
3480	IGF1R	Rieger anomaly	HP:0000558
3480	IGF1R	Wide nasal bridge	HP:0000431
3480	IGF1R	Diabetes mellitus	HP:0000819
3480	IGF1R	Short palm	HP:0004279
3480	IGF1R	Sandal gap	HP:0001852
3480	IGF1R	Increased serum insulin-like growth factor 1	HP:0030269
3480	IGF1R	Delayed skeletal maturation	HP:0002750
3480	IGF1R	Smooth philtrum	HP:0000319
3480	IGF1R	Triangular face	HP:0000325
3480	IGF1R	Upslanted palpebral fissure	HP:0000582
3480	IGF1R	Broad nasal tip	HP:0000455
3480	IGF1R	Agitation	HP:0000713
3480	IGF1R	Wide intermamillary distance	HP:0006610
3480	IGF1R	Long philtrum	HP:0000343
3480	IGF1R	High palate	HP:0000218
3480	IGF1R	Micrognathia	HP:0000347
3480	IGF1R	Thin upper lip vermilion	HP:0000219
3480	IGF1R	Ventricular septal defect	HP:0001629
3480	IGF1R	Intellectual disability	HP:0001249
3480	IGF1R	Short stature	HP:0004322
3480	IGF1R	Anxiety	HP:0000739
3480	IGF1R	Decreased body weight	HP:0004325
3480	IGF1R	Strabismus	HP:0000486
3480	IGF1R	Intrauterine growth retardation	HP:0001511
3480	IGF1R	Everted lower lip vermilion	HP:0000232
3480	IGF1R	Thin vermilion border	HP:0000233
3480	IGF1R	Deeply set eye	HP:0000490
3480	IGF1R	Short foot	HP:0001773
3480	IGF1R	Delayed speech and language development	HP:0000750
3480	IGF1R	Global developmental delay	HP:0001263
3480	IGF1R	Small hand	HP:0200055
3480	IGF1R	Motor delay	HP:0001270
3480	IGF1R	Patent foramen ovale	HP:0001655
3480	IGF1R	Highly arched eyebrow	HP:0002553
3480	IGF1R	Congenital onset	HP:0003577
3480	IGF1R	Radial deviation of finger	HP:0009466
3480	IGF1R	Microcephaly	HP:0000252
3480	IGF1R	Pectus excavatum	HP:0000767
3481	IGF2	Relative macrocephaly	HP:0004482
3481	IGF2	Omphalocele	HP:0001539
3481	IGF2	Short distal phalanx of the 5th finger	HP:0004227
3481	IGF2	Diastasis recti	HP:0001540
3481	IGF2	Pancreatic hyperplasia	HP:0006277
3481	IGF2	Autosomal dominant inheritance	HP:0000006
3481	IGF2	Syndactyly	HP:0001159
3481	IGF2	Proptosis	HP:0000520
3481	IGF2	Testicular seminoma	HP:0100617
3481	IGF2	Generalized hypotonia	HP:0001290
3481	IGF2	X-linked recessive inheritance	HP:0001419
3481	IGF2	Overgrowth	HP:0001548
3481	IGF2	Prominent occiput	HP:0000269
3481	IGF2	Delayed cranial suture closure	HP:0000270
3481	IGF2	Heterogeneous	HP:0001425
3481	IGF2	Nephrolithiasis	HP:0000787
3481	IGF2	Asymmetry of the thorax	HP:0001555
3481	IGF2	Somatic mutation	HP:0001428
3481	IGF2	Gonadoblastoma	HP:0000150
3481	IGF2	Retrognathia	HP:0000278
3481	IGF2	Inguinal hernia	HP:0000023
3481	IGF2	Coarse facial features	HP:0000280
3481	IGF2	Midface retrusion	HP:0011800
3481	IGF2	Dandy-Walker malformation	HP:0001305
3481	IGF2	Downturned corners of mouth	HP:0002714
3481	IGF2	Nevus flammeus	HP:0001052
3481	IGF2	Cryptorchidism	HP:0000028
3481	IGF2	Macroglossia	HP:0000158
3481	IGF2	Impaired pain sensation	HP:0007328
3481	IGF2	Sporadic	HP:0003745
3481	IGF2	Renal cortical cysts	HP:0000803
3481	IGF2	Abnormality of the dentition	HP:0000164
3481	IGF2	Feeding difficulties in infancy	HP:0008872
3481	IGF2	Myelomeningocele	HP:0002475
3481	IGF2	Overgrowth of external genitalia	HP:0003247
3481	IGF2	Hypospadias	HP:0000047
3481	IGF2	Growth hormone deficiency	HP:0000824
3481	IGF2	Cafe-au-lait spot	HP:0000957
3481	IGF2	Ambiguous genitalia	HP:0000062
3481	IGF2	Delayed skeletal maturation	HP:0002750
3481	IGF2	Hepatomegaly	HP:0002240
3481	IGF2	Hepatoblastoma	HP:0002884
3481	IGF2	Facial asymmetry	HP:0000324
3481	IGF2	Triangular face	HP:0000325
3481	IGF2	Abnormality of the ureter	HP:0000069
3481	IGF2	Posterior helix pit	HP:0008523
3481	IGF2	Vesicoureteral reflux	HP:0000076
3481	IGF2	Congenital posterior urethral valve	HP:0010957
3481	IGF2	Neonatal hypoglycemia	HP:0001998
3481	IGF2	Blue sclerae	HP:0000592
3481	IGF2	Finger clinodactyly	HP:0040019
3481	IGF2	Prominent forehead	HP:0011220
3481	IGF2	Craniofacial disproportion	HP:0005461
3481	IGF2	Frontal bossing	HP:0002007
3481	IGF2	Adrenocortical carcinoma	HP:0006744
3481	IGF2	Abnormality of cardiovascular system morphology	HP:0030680
3481	IGF2	Scoliosis	HP:0002650
3481	IGF2	Fasting hypoglycemia	HP:0003162
3481	IGF2	Abnormality of the cardiovascular system	HP:0001626
3481	IGF2	Micrognathia	HP:0000347
3481	IGF2	Abnormality of the foot	HP:0001760
3481	IGF2	Short stature	HP:0004322
3481	IGF2	Melanocytic nevus	HP:0000995
3481	IGF2	Decreased body weight	HP:0004325
3481	IGF2	Cardiomyopathy	HP:0001638
3481	IGF2	Intrauterine growth retardation	HP:0001511
3481	IGF2	Cardiomegaly	HP:0001640
3481	IGF2	Intellectual disability, mild	HP:0001256
3481	IGF2	Enlarged kidney	HP:0000105
3481	IGF2	Nephroblastoma	HP:0002667
3481	IGF2	Patent ductus arteriosus	HP:0001643
3481	IGF2	Small for gestational age	HP:0001518
3481	IGF2	Craniopharyngioma	HP:0030062
3481	IGF2	Large fontanelles	HP:0000239
3481	IGF2	Prominent metopic ridge	HP:0005487
3481	IGF2	Global developmental delay	HP:0001263
3481	IGF2	Accelerated skeletal maturation	HP:0005616
3481	IGF2	Low-set ears	HP:0000369
3481	IGF2	Clinodactyly of the 5th finger	HP:0004209
3481	IGF2	Urethral valve	HP:0010481
3481	IGF2	Motor delay	HP:0001270
3481	IGF2	Hemihypertrophy	HP:0001528
3481	IGF2	Nephrocalcinosis	HP:0000121
3481	IGF2	Adrenocortical cytomegaly	HP:0008186
3481	IGF2	Hepatocellular carcinoma	HP:0001402
3481	IGF2	Short middle phalanx of the 5th finger	HP:0004220
3482	IGF2R	Heterogeneous	HP:0001425
3482	IGF2R	Somatic mutation	HP:0001428
3482	IGF2R	Micronodular cirrhosis	HP:0001413
3482	IGF2R	Autosomal dominant inheritance	HP:0000006
3482	IGF2R	Hepatocellular carcinoma	HP:0001402
3482	IGF2R	Subacute progressive viral hepatitis	HP:0006572
3483	IGFALS	Decreased serum insulin-like growth factor 1	HP:0030353
3483	IGFALS	Truncal obesity	HP:0001956
3483	IGFALS	Reduced insulin like growth factor binding protein acid labile subunit level	HP:0045046
3483	IGFALS	Delayed puberty	HP:0000823
3483	IGFALS	Insulin resistance	HP:0000855
3483	IGFALS	Mild postnatal growth retardation	HP:0001530
3483	IGFALS	Micrognathia	HP:0000347
3483	IGFALS	Insulin insensitivity	HP:0008189
3483	IGFALS	Delayed skeletal maturation	HP:0002750
3490	IGFBP7	Autosomal recessive inheritance	HP:0000007
3490	IGFBP7	Exudative retinal detachment	HP:0012231
3490	IGFBP7	Pulmonic stenosis	HP:0001642
3490	IGFBP7	Retinal arterial macroaneurysms	HP:0025355
3492	IGH	Pulmonary infiltrates	HP:0002113
3492	IGH	Meningitis	HP:0001287
3492	IGH	Hyperhidrosis	HP:0000975
3492	IGH	Splenomegaly	HP:0001744
3492	IGH	Abnormality of the gastrointestinal tract	HP:0011024
3492	IGH	Night sweats	HP:0030166
3492	IGH	Fever	HP:0001945
3492	IGH	Abnormality of the peritoneum	HP:0002585
3492	IGH	Pleural effusion	HP:0002202
3492	IGH	Fatigue	HP:0012378
3492	IGH	Posterior uveitis	HP:0012123
3492	IGH	Lymphadenopathy	HP:0002716
3492	IGH	Recurrent respiratory infections	HP:0002205
3492	IGH	B-cell lymphoma	HP:0012191
3492	IGH	Weight loss	HP:0001824
3492	IGH	Nausea and vomiting	HP:0002017
3492	IGH	Constipation	HP:0002019
3492	IGH	Abnormal nasolacrimal system morphology	HP:0000614
3492	IGH	Skin nodule	HP:0200036
3492	IGH	Lymphoma	HP:0002665
3492	IGH	Abdominal pain	HP:0002027
3492	IGH	Lymphedema	HP:0001004
3492	IGH	Anemia	HP:0001903
3492	IGH	Mediastinal lymphadenopathy	HP:0100721
3492	IGH	Abnormality of the thyroid gland	HP:0000820
3492	IGH	Anorexia	HP:0002039
3492	IGH	Abnormality of bone marrow cell morphology	HP:0005561
3492	IGH	Visual impairment	HP:0000505
3507	IGHM	Osteomyelitis	HP:0002754
3507	IGHM	Recurrent pneumonia	HP:0006532
3507	IGHM	Chronic otitis media	HP:0000389
3507	IGHM	Meningitis	HP:0001287
3507	IGHM	Sepsis	HP:0100806
3507	IGHM	Autosomal recessive inheritance	HP:0000007
3507	IGHM	Infantile onset	HP:0003593
3507	IGHM	Agammaglobulinemia	HP:0004432
3507	IGHM	Neutropenia	HP:0001875
3507	IGHM	Hepatitis	HP:0012115
3507	IGHM	Recurrent otitis media	HP:0000403
3507	IGHM	Dehydration	HP:0001944
3507	IGHM	Arthritis	HP:0001369
3507	IGHM	Fever	HP:0001945
3507	IGHM	High palate	HP:0000218
3507	IGHM	Fatigue	HP:0012378
3507	IGHM	Skin rash	HP:0000988
3507	IGHM	Recurrent respiratory infections	HP:0002205
3507	IGHM	Diarrhea	HP:0002014
3507	IGHM	Epicanthus	HP:0000286
3507	IGHM	Recurrent bacterial infections	HP:0002718
3507	IGHM	B lymphocytopenia	HP:0010976
3507	IGHM	Immunodeficiency	HP:0002721
3507	IGHM	Failure to thrive	HP:0001508
3507	IGHM	Recurrent sinusitis	HP:0011108
3507	IGHM	Malabsorption	HP:0002024
3507	IGHM	Verrucae	HP:0200043
3507	IGHM	Recurrent skin infections	HP:0001581
3507	IGHM	Cellulitis	HP:0100658
3507	IGHM	Sinusitis	HP:0000246
3507	IGHM	Recurrent enteroviral infections	HP:0002743
3507	IGHM	Crohn's disease	HP:0100280
3507	IGHM	Hypertelorism	HP:0000316
3507	IGHM	External ear malformation	HP:0008572
3507	IGHM	Conjunctivitis	HP:0000509
3507	IGHM	Bronchiectasis	HP:0002110
3507	IGHM	Cough	HP:0012735
3508	IGHMBP2	Foot dorsiflexor weakness	HP:0009027
3508	IGHMBP2	Areflexia	HP:0001284
3508	IGHMBP2	Diaphragmatic paralysis	HP:0006597
3508	IGHMBP2	Autosomal recessive inheritance	HP:0000007
3508	IGHMBP2	Camptodactyly of finger	HP:0100490
3508	IGHMBP2	Weak cry	HP:0001612
3508	IGHMBP2	Axonal degeneration	HP:0040078
3508	IGHMBP2	Hyperhidrosis	HP:0000975
3508	IGHMBP2	Urinary incontinence	HP:0000020
3508	IGHMBP2	Denervation of the diaphragm	HP:0009109
3508	IGHMBP2	Diaphragmatic eventration	HP:0009110
3508	IGHMBP2	Decreased fetal movement	HP:0001558
3508	IGHMBP2	Premature birth	HP:0001622
3508	IGHMBP2	Scoliosis	HP:0002650
3508	IGHMBP2	Distal muscle weakness	HP:0002460
3508	IGHMBP2	Slow progression	HP:0003677
3508	IGHMBP2	Degeneration of anterior horn cells	HP:0002398
3508	IGHMBP2	Talipes equinovarus	HP:0001762
3508	IGHMBP2	Constipation	HP:0002019
3508	IGHMBP2	Failure to thrive	HP:0001508
3508	IGHMBP2	Inspiratory stridor	HP:0005348
3508	IGHMBP2	Sensorimotor neuropathy	HP:0007141
3508	IGHMBP2	Tachypnea	HP:0002789
3508	IGHMBP2	Spinal muscular atrophy	HP:0007269
3508	IGHMBP2	Intrauterine growth retardation	HP:0001511
3508	IGHMBP2	Limb muscle weakness	HP:0003690
3508	IGHMBP2	Distal amyotrophy	HP:0003693
3508	IGHMBP2	Small for gestational age	HP:0001518
3508	IGHMBP2	Steppage gait	HP:0003376
3508	IGHMBP2	Hyporeflexia	HP:0001265
3508	IGHMBP2	Proximal muscle weakness	HP:0003701
3508	IGHMBP2	EMG: neuropathic changes	HP:0003445
3508	IGHMBP2	Distal sensory impairment	HP:0002936
3508	IGHMBP2	Ventilator dependence with inability to wean	HP:0005946
3508	IGHMBP2	Decreased nerve conduction velocity	HP:0000762
3508	IGHMBP2	Peripheral axonal degeneration	HP:0000764
3508	IGHMBP2	Respiratory failure	HP:0002878
388531	RGS9BP	Photophobia	HP:0000613
388531	RGS9BP	Visual impairment	HP:0000505
388531	RGS9BP	Bradyopsia	HP:0030511
93627	TBCK	Macrocephaly	HP:0000256
93627	TBCK	Profound global developmental delay	HP:0012736
93627	TBCK	Ventriculomegaly	HP:0002119
93627	TBCK	Autosomal recessive inheritance	HP:0000007
93627	TBCK	Developmental regression	HP:0002376
93627	TBCK	Cerebral atrophy	HP:0002059
93627	TBCK	Dysplastic corpus callosum	HP:0006989
93627	TBCK	Anteverted nares	HP:0000463
93627	TBCK	Gastrostomy tube feeding in infancy	HP:0011471
93627	TBCK	Encephalopathy	HP:0001298
93627	TBCK	Sloping forehead	HP:0000340
93627	TBCK	Gingival overgrowth	HP:0000212
93627	TBCK	Narrow forehead	HP:0000341
93627	TBCK	Abnormality of the periventricular white matter	HP:0002518
93627	TBCK	Exaggerated cupid's bow	HP:0002263
93627	TBCK	Coarse facial features	HP:0000280
93627	TBCK	Small basal ganglia	HP:0012697
93627	TBCK	Brain atrophy	HP:0012444
93627	TBCK	Extra-axial cerebrospinal fluid accumulation	HP:0012510
93627	TBCK	Macroglossia	HP:0000158
93627	TBCK	Bulbous nose	HP:0000414
93627	TBCK	Hypoplasia of the corpus callosum	HP:0002079
93627	TBCK	Cerebral visual impairment	HP:0100704
93627	TBCK	Poor speech	HP:0002465
93627	TBCK	Seizures	HP:0001250
93627	TBCK	Reduced brain N-acetyl aspartate level by MRS	HP:0012708
93627	TBCK	Cerebellar vermis hypoplasia	HP:0001320
93627	TBCK	Cerebellar hypoplasia	HP:0001321
93627	TBCK	Prominent nasal bridge	HP:0000426
93627	TBCK	Deeply set eye	HP:0000490
93627	TBCK	Severe muscular hypotonia	HP:0006829
93627	TBCK	Hyporeflexia	HP:0001265
93627	TBCK	Variable expressivity	HP:0003828
93627	TBCK	Tented upper lip vermilion	HP:0010804
93627	TBCK	Thick vermilion border	HP:0012471
93627	TBCK	Highly arched eyebrow	HP:0002553
93627	TBCK	Congenital onset	HP:0003577
3514	IGKC	Autosomal recessive inheritance	HP:0000007
3514	IGKC	Abnormal immunoglobulin level	HP:0010701
3514	IGKC	Diarrhea	HP:0002014
3514	IGKC	Recurrent infections	HP:0002719
3516	RBPJ	Aplastic/hypoplastic toenail	HP:0010624
3516	RBPJ	Portal hypertension	HP:0001409
3516	RBPJ	Brachydactyly	HP:0001156
3516	RBPJ	Ascites	HP:0001541
3516	RBPJ	Autosomal dominant inheritance	HP:0000006
3516	RBPJ	Cataract	HP:0000518
3516	RBPJ	Sparse hair	HP:0008070
3516	RBPJ	Absent toe	HP:0010760
3516	RBPJ	Abnormality of the metacarpal bones	HP:0001163
3516	RBPJ	Hypoplastic fingernail	HP:0001804
3516	RBPJ	Split hand	HP:0001171
3516	RBPJ	Absent fingernail	HP:0001817
3516	RBPJ	Short distal phalanx of finger	HP:0009882
3516	RBPJ	Aplasia cutis congenita	HP:0001057
3516	RBPJ	Encephalocele	HP:0002084
3516	RBPJ	Pulmonary arterial hypertension	HP:0002092
3516	RBPJ	EEG abnormality	HP:0002353
3516	RBPJ	Congenital hepatic fibrosis	HP:0002612
3516	RBPJ	Microphthalmia	HP:0000568
3516	RBPJ	Periventricular leukomalacia	HP:0006970
3516	RBPJ	Arteriovenous malformation	HP:0100026
3516	RBPJ	Alopecia	HP:0001596
3516	RBPJ	Gastrointestinal hemorrhage	HP:0002239
3516	RBPJ	Blepharophimosis	HP:0000581
3516	RBPJ	Cutis marmorata	HP:0000965
3516	RBPJ	Pulmonary artery atresia	HP:0004935
3516	RBPJ	Short palpebral fissure	HP:0012745
3516	RBPJ	Thrombocytopenia	HP:0001873
3516	RBPJ	Absent hand	HP:0004050
3516	RBPJ	Calvarial skull defect	HP:0001362
3516	RBPJ	2-3 toe syndactyly	HP:0004691
3516	RBPJ	Porencephalic cyst	HP:0002132
3516	RBPJ	Finger syndactyly	HP:0006101
3516	RBPJ	Premature birth	HP:0001622
3516	RBPJ	Leukopenia	HP:0001882
3516	RBPJ	Talipes	HP:0001883
3516	RBPJ	Intellectual disability	HP:0001249
3516	RBPJ	Seizures	HP:0001250
3516	RBPJ	Tetralogy of Fallot	HP:0001636
3516	RBPJ	Failure to thrive	HP:0001508
3516	RBPJ	Strabismus	HP:0000486
3516	RBPJ	Abnormal pulmonary valve morphology	HP:0001641
3516	RBPJ	Hydrocephalus	HP:0000238
3516	RBPJ	Global developmental delay	HP:0001263
3516	RBPJ	Cirrhosis	HP:0001394
3516	RBPJ	Hemiparesis	HP:0001269
3516	RBPJ	Short metatarsal	HP:0010743
3516	RBPJ	Esophageal varix	HP:0002040
3516	RBPJ	Microcephaly	HP:0000252
3516	RBPJ	Hypertonia	HP:0001276
85440	DOCK7	Cerebral visual impairment	HP:0100704
85440	DOCK7	Short philtrum	HP:0000322
85440	DOCK7	Seizures	HP:0001250
85440	DOCK7	Epileptic encephalopathy	HP:0200134
85440	DOCK7	Low anterior hairline	HP:0000294
85440	DOCK7	Broad nasal tip	HP:0000455
85440	DOCK7	Autosomal recessive inheritance	HP:0000007
85440	DOCK7	Infantile onset	HP:0003593
85440	DOCK7	Hypoplasia of the pons	HP:0012110
85440	DOCK7	Global developmental delay	HP:0001263
85440	DOCK7	Periorbital fullness	HP:0000629
85440	DOCK7	Narrow forehead	HP:0000341
85440	DOCK7	Thick vermilion border	HP:0012471
85440	DOCK7	Hypsarrhythmia	HP:0002521
85440	DOCK7	Abnormality of the pinna	HP:0000377
85440	DOCK7	Telecanthus	HP:0000506
85440	DOCK7	Thick eyebrow	HP:0000574
85440	DOCK7	Hypoplasia of the corpus callosum	HP:0002079
388551	CEACAM16	Autosomal dominant inheritance	HP:0000006
388551	CEACAM16	Hearing impairment	HP:0000365
85446	ZFHX2	Decreased corneal reflex	HP:0008000
85446	ZFHX2	Recurrent fever	HP:0001954
85446	ZFHX2	Painless fractures due to injury	HP:0002661
85446	ZFHX2	Impaired thermal sensitivity	HP:0006901
85446	ZFHX2	Autosomal dominant inheritance	HP:0000006
85446	ZFHX2	Hypohidrosis	HP:0000966
85446	ZFHX2	Headache	HP:0002315
85446	ZFHX2	Pain insensitivity	HP:0007021
126410	CYP4F22	Ichthyosis	HP:0008064
126410	CYP4F22	Hyperkeratosis	HP:0000962
126410	CYP4F22	Epidermal acanthosis	HP:0025092
126410	CYP4F22	Chronic otitis media	HP:0000389
126410	CYP4F22	Lack of skin elasticity	HP:0100679
126410	CYP4F22	Sparse hair	HP:0008070
126410	CYP4F22	Acanthocytosis	HP:0001927
126410	CYP4F22	Autosomal recessive inheritance	HP:0000007
126410	CYP4F22	Sepsis	HP:0100806
126410	CYP4F22	Parakeratosis	HP:0001036
126410	CYP4F22	Ectropion	HP:0000656
126410	CYP4F22	Renal insufficiency	HP:0000083
126410	CYP4F22	Palmoplantar keratoderma	HP:0000982
126410	CYP4F22	Gangrene	HP:0100758
126410	CYP4F22	Dehydration	HP:0001944
126410	CYP4F22	Pruritus	HP:0000989
126410	CYP4F22	Recurrent respiratory infections	HP:0002205
126410	CYP4F22	Abnormality of the helix	HP:0011039
126410	CYP4F22	Orthokeratosis	HP:0040162
126410	CYP4F22	Short stature	HP:0004322
126410	CYP4F22	Abnormality of the dentition	HP:0000164
126410	CYP4F22	Everted lower lip vermilion	HP:0000232
126410	CYP4F22	Aplasia/Hypoplasia of the eyebrow	HP:0100840
126410	CYP4F22	Hypotrichosis	HP:0001006
126410	CYP4F22	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
126410	CYP4F22	Erythroderma	HP:0001019
126410	CYP4F22	Abnormality of the nail	HP:0001597
126410	CYP4F22	Dry skin	HP:0000958
126410	CYP4F22	Cognitive impairment	HP:0100543
388552	BLOC1S3	Exotropia	HP:0000577
388552	BLOC1S3	Myopia	HP:0000545
388552	BLOC1S3	Astigmatism	HP:0000483
388552	BLOC1S3	Hypoplasia of the fovea	HP:0007750
388552	BLOC1S3	Autosomal recessive inheritance	HP:0000007
388552	BLOC1S3	Reduced visual acuity	HP:0007663
388552	BLOC1S3	Bruising susceptibility	HP:0000978
388552	BLOC1S3	Ocular albinism	HP:0001107
388552	BLOC1S3	Impaired platelet aggregation	HP:0003540
388552	BLOC1S3	Esotropia	HP:0000565
388552	BLOC1S3	Visual impairment	HP:0000505
388552	BLOC1S3	Horizontal nystagmus	HP:0000666
388552	BLOC1S3	Hypermetropia	HP:0000540
388552	BLOC1S3	Albinism	HP:0001022
388552	BLOC1S3	Optic disc pallor	HP:0000543
93650	ACP4	Overbite	HP:0011094
93650	ACP4	Autosomal recessive inheritance	HP:0000007
93650	ACP4	Carious teeth	HP:0000670
3543	IGLL1	Osteomyelitis	HP:0002754
3543	IGLL1	Recurrent pneumonia	HP:0006532
3543	IGLL1	Chronic otitis media	HP:0000389
3543	IGLL1	Meningitis	HP:0001287
3543	IGLL1	Sepsis	HP:0100806
3543	IGLL1	Autosomal recessive inheritance	HP:0000007
3543	IGLL1	Infantile onset	HP:0003593
3543	IGLL1	Agammaglobulinemia	HP:0004432
3543	IGLL1	Neutropenia	HP:0001875
3543	IGLL1	Hepatitis	HP:0012115
3543	IGLL1	Dehydration	HP:0001944
3543	IGLL1	Arthritis	HP:0001369
3543	IGLL1	Fever	HP:0001945
3543	IGLL1	High palate	HP:0000218
3543	IGLL1	Fatigue	HP:0012378
3543	IGLL1	Skin rash	HP:0000988
3543	IGLL1	Recurrent respiratory infections	HP:0002205
3543	IGLL1	Diarrhea	HP:0002014
3543	IGLL1	Epicanthus	HP:0000286
3543	IGLL1	Recurrent bacterial infections	HP:0002718
3543	IGLL1	Immunodeficiency	HP:0002721
3543	IGLL1	Failure to thrive	HP:0001508
3543	IGLL1	Malabsorption	HP:0002024
3543	IGLL1	Verrucae	HP:0200043
3543	IGLL1	Recurrent skin infections	HP:0001581
3543	IGLL1	Cellulitis	HP:0100658
3543	IGLL1	Sinusitis	HP:0000246
3543	IGLL1	Hypertelorism	HP:0000316
3543	IGLL1	External ear malformation	HP:0008572
3543	IGLL1	Conjunctivitis	HP:0000509
3543	IGLL1	Bronchiectasis	HP:0002110
3543	IGLL1	Cough	HP:0012735
3547	IGSF1	Hypothyroidism	HP:0000821
3547	IGSF1	X-linked recessive inheritance	HP:0001419
3547	IGSF1	Overweight	HP:0025502
3549	IHH	Pectus carinatum	HP:0000768
3549	IHH	Macrocephaly	HP:0000256
3549	IHH	Small nail	HP:0001792
3549	IHH	Short femoral neck	HP:0100864
3549	IHH	Short proximal phalanx of finger	HP:0010241
3549	IHH	Relative macrocephaly	HP:0004482
3549	IHH	Broad metacarpal epiphyses	HP:0006146
3549	IHH	Brachydactyly	HP:0001156
3549	IHH	Short ribs	HP:0000773
3549	IHH	Narrow chest	HP:0000774
3549	IHH	Autosomal dominant inheritance	HP:0000006
3549	IHH	Autosomal recessive inheritance	HP:0000007
3549	IHH	Absent distal interphalangeal creases	HP:0001032
3549	IHH	Broad palm	HP:0001169
3549	IHH	Heterogeneous	HP:0001425
3549	IHH	Proportionate shortening of all digits	HP:0006165
3549	IHH	Short femur	HP:0003097
3549	IHH	Genu varum	HP:0002970
3549	IHH	Short distal phalanx of finger	HP:0009882
3549	IHH	Fibular overgrowth	HP:0003099
3549	IHH	Broad nail	HP:0001821
3549	IHH	Short humerus	HP:0005792
3549	IHH	Cone-shaped epiphysis of the 1st metacarpal	HP:0010017
3549	IHH	Short proximal phalanx of thumb	HP:0009638
3549	IHH	Enlargement of the distal femoral epiphysis	HP:0006438
3549	IHH	Micromelia	HP:0002983
3549	IHH	Hypoplasia of the radius	HP:0002984
3549	IHH	Disproportionate short-limb short stature	HP:0008873
3549	IHH	Disproportionate short stature	HP:0003498
3549	IHH	Cone-shaped metacarpal epiphyses	HP:0006059
3549	IHH	Short thumb	HP:0009778
3549	IHH	Hypoplastic iliac wing	HP:0002866
3549	IHH	Distal symphalangism of hands	HP:0001204
3549	IHH	Flared iliac wings	HP:0002869
3549	IHH	Short palm	HP:0004279
3549	IHH	Short middle phalanx of finger	HP:0005819
3549	IHH	Delayed skeletal maturation	HP:0002750
3549	IHH	Radial deviation of the 4th finger	HP:0009279
3549	IHH	Delayed ossification of carpal bones	HP:0001216
3549	IHH	Short metacarpal	HP:0010049
3549	IHH	Short thorax	HP:0010306
3549	IHH	Thin proximal phalanges with broad epiphyses of the hand	HP:0006213
3549	IHH	Flattened metatarsal heads	HP:0005194
3549	IHH	Hypoplasia of the ulna	HP:0003022
3549	IHH	Broad metacarpals	HP:0001230
3549	IHH	Dysplasia of the femoral head	HP:0010575
3549	IHH	Small finger	HP:0030033
3549	IHH	Cone-shaped epiphysis	HP:0010579
3549	IHH	Cone-shaped capital femoral epiphysis	HP:0008789
3549	IHH	Scoliosis	HP:0002650
3549	IHH	Skeletal dysplasia	HP:0002652
3549	IHH	Slender metacarpals	HP:0006236
3549	IHH	Talipes equinovarus	HP:0001762
3549	IHH	Short stature	HP:0004322
3549	IHH	Ovoid vertebral bodies	HP:0003300
3549	IHH	Short tibia	HP:0005736
3549	IHH	Hyperlordosis	HP:0003307
3549	IHH	Short foot	HP:0001773
3549	IHH	Clinodactyly of the 5th finger	HP:0004209
3549	IHH	Radial deviation of the 3rd finger	HP:0009462
3549	IHH	Cupped ribs	HP:0000887
3549	IHH	Lumbar hyperlordosis	HP:0002938
3549	IHH	Radial deviation of the 2nd finger	HP:0009467
3549	IHH	Short proximal phalanx of hallux	HP:0010107
3549	IHH	Coxa vara	HP:0002812
3549	IHH	Short hallux	HP:0010109
3549	IHH	Pectus excavatum	HP:0000767
3551	IKBKB	Agammaglobulinemia	HP:0004432
3551	IKBKB	Immunodeficiency	HP:0002721
3551	IKBKB	Failure to thrive	HP:0001508
3551	IKBKB	Autosomal recessive inheritance	HP:0000007
3551	IKBKB	Infantile onset	HP:0003593
3551	IKBKB	Recurrent fungal infections	HP:0002841
3551	IKBKB	Respiratory tract infection	HP:0011947
3551	IKBKB	Chronic diarrhea	HP:0002028
85476	GFM1	Delayed myelination	HP:0012448
85476	GFM1	Hepatomegaly	HP:0002240
85476	GFM1	Feeding difficulties	HP:0011968
85476	GFM1	Fulminant hepatic failure	HP:0004448
85476	GFM1	Seizures	HP:0001250
85476	GFM1	Hyperreflexia	HP:0001347
85476	GFM1	Increased serum lactate	HP:0002151
85476	GFM1	Intrauterine growth retardation	HP:0001511
85476	GFM1	Hypokinesia	HP:0002375
85476	GFM1	Autosomal recessive inheritance	HP:0000007
85476	GFM1	Muscular hypotonia of the trunk	HP:0008936
85476	GFM1	Spasticity	HP:0001257
85476	GFM1	Global brain atrophy	HP:0002283
85476	GFM1	Basal ganglia cysts	HP:0006799
85476	GFM1	Poor eye contact	HP:0000817
85476	GFM1	Cholestasis	HP:0001396
85476	GFM1	Metabolic acidosis	HP:0001942
85476	GFM1	Motor delay	HP:0001270
85476	GFM1	Congenital onset	HP:0003577
85476	GFM1	Increased CSF lactate	HP:0002490
85476	GFM1	Microcephaly	HP:0000252
85476	GFM1	Hypoplasia of the corpus callosum	HP:0002079
85476	GFM1	Nystagmus	HP:0000639
3557	IL1RN	Hepatomegaly	HP:0002240
3557	IL1RN	Osteomyelitis	HP:0002754
3557	IL1RN	Hyperkeratosis	HP:0000962
3557	IL1RN	Interstitial pulmonary abnormality	HP:0006530
3557	IL1RN	Epidermal acanthosis	HP:0025092
3557	IL1RN	Pustule	HP:0200039
3557	IL1RN	Fused cervical vertebrae	HP:0002949
3557	IL1RN	Periostitis	HP:0040165
3557	IL1RN	Autosomal recessive inheritance	HP:0000007
3557	IL1RN	Stomatitis	HP:0010280
3557	IL1RN	Joint swelling	HP:0001386
3557	IL1RN	Arthralgia	HP:0002829
3557	IL1RN	Osteolysis	HP:0002797
3557	IL1RN	Splenomegaly	HP:0001744
3557	IL1RN	Respiratory distress	HP:0002098
3557	IL1RN	Fetal distress	HP:0025116
3559	IL2RA	Hepatomegaly	HP:0002240
3559	IL2RA	Eczema	HP:0000964
3559	IL2RA	Polyarticular arthritis	HP:0005764
3559	IL2RA	Iridocyclitis	HP:0001094
3559	IL2RA	Autosomal recessive inheritance	HP:0000007
3559	IL2RA	Apraxia	HP:0002186
3559	IL2RA	Recurrent viral infections	HP:0004429
3559	IL2RA	Arthralgia	HP:0002829
3559	IL2RA	Splenomegaly	HP:0001744
3559	IL2RA	Villous atrophy	HP:0011473
3559	IL2RA	Hepatosplenomegaly	HP:0001433
3559	IL2RA	Recurrent fungal infections	HP:0002841
3559	IL2RA	Decrease in T cell count	HP:0005403
3559	IL2RA	Elevated C-reactive protein level	HP:0011227
3559	IL2RA	Lymphadenopathy	HP:0002716
3559	IL2RA	Recurrent respiratory infections	HP:0002205
3559	IL2RA	Joint dislocation	HP:0001373
3559	IL2RA	Recurrent bacterial infections	HP:0002718
3559	IL2RA	Decreased circulating IgA level	HP:0002720
3559	IL2RA	Limitation of joint mobility	HP:0001376
3559	IL2RA	Immunodeficiency	HP:0002721
3559	IL2RA	Autoimmune hemolytic anemia	HP:0001890
3559	IL2RA	Antinuclear antibody positivity	HP:0003493
3559	IL2RA	Joint swelling	HP:0001386
3559	IL2RA	Chronic diarrhea	HP:0002028
3559	IL2RA	Elevated erythrocyte sedimentation rate	HP:0003565
3559	IL2RA	Juvenile rheumatoid arthritis	HP:0005681
3559	IL2RA	Dental malocclusion	HP:0000689
3559	IL2RA	Diabetes mellitus	HP:0000819
3559	IL2RA	Hypothyroidism	HP:0000821
3559	IL2RA	Alopecia	HP:0001596
85478	CCDC65	Rhinitis	HP:0012384
85478	CCDC65	Recurrent otitis media	HP:0000403
85478	CCDC65	Recurrent sinusitis	HP:0011108
85478	CCDC65	Chronic bronchitis	HP:0004469
85478	CCDC65	Autosomal recessive inheritance	HP:0000007
85478	CCDC65	Ciliary dyskinesia	HP:0012265
85478	CCDC65	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
85478	CCDC65	Recurrent respiratory infections	HP:0002205
85478	CCDC65	Bronchiectasis	HP:0002110
3560	IL2RB	Limitation of joint mobility	HP:0001376
3560	IL2RB	Juvenile rheumatoid arthritis	HP:0005681
3560	IL2RB	Dental malocclusion	HP:0000689
3560	IL2RB	Polyarticular arthritis	HP:0005764
3560	IL2RB	Antinuclear antibody positivity	HP:0003493
3560	IL2RB	Iridocyclitis	HP:0001094
3560	IL2RB	Apraxia	HP:0002186
3560	IL2RB	Joint swelling	HP:0001386
3560	IL2RB	Elevated C-reactive protein level	HP:0011227
3560	IL2RB	Arthralgia	HP:0002829
3560	IL2RB	Elevated erythrocyte sedimentation rate	HP:0003565
3560	IL2RB	Joint dislocation	HP:0001373
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	Agammaglobulinemia	HP:0004432
3561	IL2RG	Splenomegaly	HP:0001744
3561	IL2RG	Autoimmunity	HP:0002960
3561	IL2RG	Recurrent bronchitis	HP:0002837
3561	IL2RG	Eosinophilia	HP:0001880
3561	IL2RG	Recurrent fungal infections	HP:0002841
3561	IL2RG	Fever	HP:0001945
3561	IL2RG	Decreased circulating IgG level	HP:0004315
3561	IL2RG	Skin rash	HP:0000988
3561	IL2RG	Lymphadenopathy	HP:0002716
3561	IL2RG	Pruritus	HP:0000989
3561	IL2RG	Decreased proportion of CD4-positive T cells	HP:0005407
3561	IL2RG	Failure to thrive	HP:0001508
3561	IL2RG	Nephrotic syndrome	HP:0000100
3561	IL2RG	Thyroiditis	HP:0100646
3561	IL2RG	Short toe	HP:0001831
3561	IL2RG	Decreased proportion of CD8-positive T cells	HP:0005415
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	Abnormality of the metaphysis	HP:0000944
3561	IL2RG	Thickened skin	HP:0001072
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
3569	IL6	Hepatomegaly	HP:0002240
3569	IL6	Pericarditis	HP:0001701
3569	IL6	Joint swelling	HP:0001386
3569	IL6	Abdominal pain	HP:0002027
3569	IL6	Arthralgia	HP:0002829
3569	IL6	Elevated erythrocyte sedimentation rate	HP:0003565
3569	IL6	Splenomegaly	HP:0001744
3569	IL6	Autoimmunity	HP:0002960
3569	IL6	Juvenile rheumatoid arthritis	HP:0005681
3569	IL6	Fever	HP:0001945
3569	IL6	Anterior uveitis	HP:0012122
3569	IL6	Pleural effusion	HP:0002202
3569	IL6	Elevated C-reactive protein level	HP:0011227
3569	IL6	Skin rash	HP:0000988
3569	IL6	Lymphadenopathy	HP:0002716
3575	IL7R	Hepatomegaly	HP:0002240
3575	IL7R	Otitis media	HP:0000388
3575	IL7R	Eczema	HP:0000964
3575	IL7R	Autosomal recessive inheritance	HP:0000007
3575	IL7R	Sepsis	HP:0100806
3575	IL7R	Edema	HP:0000969
3575	IL7R	Recurrent opportunistic infections	HP:0005390
3575	IL7R	Severe combined immunodeficiency	HP:0004430
3575	IL7R	Splenomegaly	HP:0001744
3575	IL7R	Autoimmunity	HP:0002960
3575	IL7R	Eosinophilia	HP:0001880
3575	IL7R	Fever	HP:0001945
3575	IL7R	Oral ulcer	HP:0000155
3575	IL7R	Decrease in T cell count	HP:0005403
3575	IL7R	Lymphadenopathy	HP:0002716
3575	IL7R	Pruritus	HP:0000989
3575	IL7R	Diarrhea	HP:0002014
3575	IL7R	Failure to thrive secondary to recurrent infections	HP:0008866
3575	IL7R	Nephrotic syndrome	HP:0000100
3575	IL7R	Failure to thrive	HP:0001508
3575	IL7R	Thyroiditis	HP:0100646
3575	IL7R	Short toe	HP:0001831
3575	IL7R	Aplasia/Hypoplasia of the eyebrow	HP:0100840
3575	IL7R	Lymphoma	HP:0002665
3575	IL7R	Pneumonia	HP:0002090
3575	IL7R	Abnormal lymphocyte morphology	HP:0004332
3575	IL7R	Chronic diarrhea	HP:0002028
3575	IL7R	Anemia	HP:0001903
3575	IL7R	Abnormality of the metaphysis	HP:0000944
3575	IL7R	Thickened skin	HP:0001072
3575	IL7R	Hypothyroidism	HP:0000821
3575	IL7R	Erythroderma	HP:0001019
3575	IL7R	Alopecia	HP:0001596
3575	IL7R	Desquamation of skin soon after birth	HP:0007549
3575	IL7R	Dry skin	HP:0000958
339453	TMEM240	Akinesia	HP:0002304
339453	TMEM240	Slow saccadic eye movements	HP:0000514
339453	TMEM240	Behavioral abnormality	HP:0000708
339453	TMEM240	Autosomal dominant inheritance	HP:0000006
339453	TMEM240	Cerebellar vermis atrophy	HP:0006855
339453	TMEM240	Intermittent microsaccadic pursuits	HP:0007944
339453	TMEM240	Diplopia	HP:0000651
339453	TMEM240	Aggressive behavior	HP:0000718
339453	TMEM240	Rigidity	HP:0002063
339453	TMEM240	Gait ataxia	HP:0002066
339453	TMEM240	Parkinsonism	HP:0001300
339453	TMEM240	Limb ataxia	HP:0002070
339453	TMEM240	Abnormality of extrapyramidal motor function	HP:0002071
339453	TMEM240	Progressive cerebellar ataxia	HP:0002073
339453	TMEM240	Cogwheel rigidity	HP:0002396
339453	TMEM240	Slow progression	HP:0003677
339453	TMEM240	Dysgraphia	HP:0010526
339453	TMEM240	Intellectual disability	HP:0001249
339453	TMEM240	Apathy	HP:0000741
339453	TMEM240	Impulsivity	HP:0100710
339453	TMEM240	Dysarthria	HP:0001260
339453	TMEM240	Global developmental delay	HP:0001263
339453	TMEM240	Microsaccadic pursuit	HP:0007792
339453	TMEM240	Hyporeflexia	HP:0001265
339453	TMEM240	Cerebellar atrophy	HP:0001272
339453	TMEM240	Scanning speech	HP:0002168
339453	TMEM240	Tremor	HP:0001337
339453	TMEM240	Postural tremor	HP:0002174
339453	TMEM240	Cognitive impairment	HP:0100543
339453	TMEM240	Nystagmus	HP:0000639
3586	IL10	Abnormal blistering of the skin	HP:0008066
3586	IL10	Avascular necrosis	HP:0010885
3586	IL10	Cataract	HP:0000518
3586	IL10	Myositis	HP:0100614
3586	IL10	Meningitis	HP:0001287
3586	IL10	Gait disturbance	HP:0001288
3586	IL10	Confusion	HP:0001289
3586	IL10	Arthralgia	HP:0002829
3586	IL10	Vertigo	HP:0002321
3586	IL10	Gangrene	HP:0100758
3586	IL10	Fever	HP:0001945
3586	IL10	Pleural effusion	HP:0002202
3586	IL10	Oral ulcer	HP:0000155
3586	IL10	Lymphadenopathy	HP:0002716
3586	IL10	Pulmonary embolism	HP:0002204
3586	IL10	Migraine	HP:0002076
3586	IL10	Weight loss	HP:0001824
3586	IL10	Acne	HP:0001061
3586	IL10	Pericarditis	HP:0001701
3586	IL10	Cranial nerve paralysis	HP:0006824
3586	IL10	Retrobulbar optic neuritis	HP:0100654
3586	IL10	Memory impairment	HP:0002354
3586	IL10	Pleuritis	HP:0002102
3586	IL10	Hemoptysis	HP:0002105
3586	IL10	Orchitis	HP:0100796
3586	IL10	Gastrointestinal hemorrhage	HP:0002239
3586	IL10	Pulmonary infiltrates	HP:0002113
3586	IL10	Hyperreflexia	HP:0001347
3586	IL10	Arterial thrombosis	HP:0004420
3586	IL10	Pancreatitis	HP:0001733
3586	IL10	Venous thrombosis	HP:0004936
3586	IL10	Developmental regression	HP:0002376
3586	IL10	Vasculitis	HP:0002633
3586	IL10	Paresthesia	HP:0003401
3586	IL10	Keratoconjunctivitis sicca	HP:0001097
3586	IL10	Subcutaneous nodule	HP:0001482
3586	IL10	Cerebral ischemia	HP:0002637
3586	IL10	Encephalitis	HP:0002383
3586	IL10	Splenomegaly	HP:0001744
3586	IL10	Renal insufficiency	HP:0000083
3586	IL10	Increased intracranial pressure	HP:0002516
3586	IL10	Glomerulopathy	HP:0100820
3586	IL10	Abnormal pyramidal sign	HP:0007256
3586	IL10	Arthritis	HP:0001369
3586	IL10	Fatigue	HP:0012378
3586	IL10	Irritability	HP:0000737
3586	IL10	Nausea and vomiting	HP:0002017
3586	IL10	Papule	HP:0200034
3586	IL10	Seizures	HP:0001250
3586	IL10	Recurrent aphthous stomatitis	HP:0011107
3586	IL10	Ataxia	HP:0001251
3586	IL10	Abnormal myocardium morphology	HP:0001637
3586	IL10	Photophobia	HP:0000613
3586	IL10	Immunologic hypersensitivity	HP:0100326
3586	IL10	Malabsorption	HP:0002024
3586	IL10	Retinopathy	HP:0000488
3586	IL10	Endocarditis	HP:0100584
3586	IL10	Blindness	HP:0000618
3586	IL10	Abdominal pain	HP:0002027
3586	IL10	Mitral regurgitation	HP:0001653
3586	IL10	Hemiparesis	HP:0001269
3586	IL10	Anorexia	HP:0002039
3586	IL10	Myocardial infarction	HP:0001658
3586	IL10	Aortic regurgitation	HP:0001659
3586	IL10	Myalgia	HP:0003326
3587	IL10RA	Enterocolitis	HP:0004387
3587	IL10RA	Autosomal recessive inheritance	HP:0000007
3587	IL10RA	Pyoderma	HP:0000999
3587	IL10RA	Hematochezia	HP:0002573
3587	IL10RA	Perianal abscess	HP:0009789
3588	IL10RB	Enterocolitis	HP:0004387
3588	IL10RB	Autosomal recessive inheritance	HP:0000007
3588	IL10RB	Rectal abscess	HP:0005224
3588	IL10RB	Folliculitis	HP:0025084
3588	IL10RB	Perianal abscess	HP:0009789
3588	IL10RB	Rectovaginal fistula	HP:0000143
3590	IL11RA	Clinodactyly	HP:0030084
3590	IL11RA	Turricephaly	HP:0000262
3590	IL11RA	Autosomal recessive inheritance	HP:0000007
3590	IL11RA	Hypoplasia of the maxilla	HP:0000327
3590	IL11RA	Flat forehead	HP:0004425
3590	IL11RA	Short phalanx of finger	HP:0009803
3590	IL11RA	Delayed eruption of teeth	HP:0000684
3590	IL11RA	Scaphocephaly	HP:0030799
3590	IL11RA	Craniosynostosis	HP:0001363
3590	IL11RA	Trigonocephaly	HP:0000243
3590	IL11RA	2-3 toe syndactyly	HP:0004691
3590	IL11RA	Coronal craniosynostosis	HP:0004440
3590	IL11RA	Brachycephaly	HP:0000248
3590	IL11RA	Sagittal craniosynostosis	HP:0004442
3590	IL11RA	Lambdoidal craniosynostosis	HP:0004443
3590	IL11RA	Hypertelorism	HP:0000316
3590	IL11RA	Increased number of teeth	HP:0011069
3590	IL11RA	Papilledema	HP:0001085
3590	IL11RA	Hallux valgus	HP:0001822
3590	IL11RA	Fingernail dysplasia	HP:0100798
3592	IL12A	Hypoalbuminemia	HP:0003073
3592	IL12A	Portal hypertension	HP:0001409
3592	IL12A	Abnormal blistering of the skin	HP:0008066
3592	IL12A	Avascular necrosis	HP:0010885
3592	IL12A	Ascites	HP:0001541
3592	IL12A	Cataract	HP:0000518
3592	IL12A	Myositis	HP:0100614
3592	IL12A	Meningitis	HP:0001287
3592	IL12A	Gait disturbance	HP:0001288
3592	IL12A	Confusion	HP:0001289
3592	IL12A	Arthralgia	HP:0002829
3592	IL12A	Vertigo	HP:0002321
3592	IL12A	Gangrene	HP:0100758
3592	IL12A	Fever	HP:0001945
3592	IL12A	Pleural effusion	HP:0002202
3592	IL12A	Oral ulcer	HP:0000155
3592	IL12A	Lymphadenopathy	HP:0002716
3592	IL12A	Pulmonary embolism	HP:0002204
3592	IL12A	Migraine	HP:0002076
3592	IL12A	Weight loss	HP:0001824
3592	IL12A	Abnormality of the intrahepatic bile duct	HP:0011040
3592	IL12A	Gastrointestinal inflammation	HP:0004386
3592	IL12A	Acne	HP:0001061
3592	IL12A	Pericarditis	HP:0001701
3592	IL12A	Antinuclear antibody positivity	HP:0003493
3592	IL12A	Cranial nerve paralysis	HP:0006824
3592	IL12A	Increased circulating IgM level	HP:0003496
3592	IL12A	Osteoporosis	HP:0000939
3592	IL12A	Onychomycosis	HP:0012203
3592	IL12A	Retrobulbar optic neuritis	HP:0100654
3592	IL12A	Abnormal circulating lipid concentration	HP:0003119
3592	IL12A	Celiac disease	HP:0002608
3592	IL12A	Memory impairment	HP:0002354
3592	IL12A	Abnormality of the thyroid gland	HP:0000820
3592	IL12A	Biliary cirrhosis	HP:0002613
3592	IL12A	Pleuritis	HP:0002102
3592	IL12A	Jaundice	HP:0000952
3592	IL12A	Hemoptysis	HP:0002105
3592	IL12A	Hyperpigmentation of the skin	HP:0000953
3592	IL12A	Orchitis	HP:0100796
3592	IL12A	Increased circulating IgA level	HP:0003261
3592	IL12A	Gastrointestinal hemorrhage	HP:0002239
3592	IL12A	Pulmonary infiltrates	HP:0002113
3592	IL12A	Hyperreflexia	HP:0001347
3592	IL12A	Dermatographic urticaria	HP:0011971
3592	IL12A	Arterial thrombosis	HP:0004420
3592	IL12A	Pancreatitis	HP:0001733
3592	IL12A	Abdominal distention	HP:0003270
3592	IL12A	Venous thrombosis	HP:0004936
3592	IL12A	Developmental regression	HP:0002376
3592	IL12A	Vasculitis	HP:0002633
3592	IL12A	Paresthesia	HP:0003401
3592	IL12A	Keratoconjunctivitis sicca	HP:0001097
3592	IL12A	Subcutaneous nodule	HP:0001482
3592	IL12A	Cerebral ischemia	HP:0002637
3592	IL12A	Encephalitis	HP:0002383
3592	IL12A	Splenomegaly	HP:0001744
3592	IL12A	Renal insufficiency	HP:0000083
3592	IL12A	Elevated alkaline phosphatase	HP:0003155
3592	IL12A	Hepatitis	HP:0012115
3592	IL12A	Increased intracranial pressure	HP:0002516
3592	IL12A	Glomerulopathy	HP:0100820
3592	IL12A	Abnormal pyramidal sign	HP:0007256
3592	IL12A	Arthritis	HP:0001369
3592	IL12A	Fatigue	HP:0012378
3592	IL12A	Conjugated hyperbilirubinemia	HP:0002908
3592	IL12A	Pruritus	HP:0000989
3592	IL12A	Irritability	HP:0000737
3592	IL12A	Nausea and vomiting	HP:0002017
3592	IL12A	Papule	HP:0200034
3592	IL12A	Seizures	HP:0001250
3592	IL12A	Recurrent aphthous stomatitis	HP:0011107
3592	IL12A	Ataxia	HP:0001251
3592	IL12A	Abnormal myocardium morphology	HP:0001637
3592	IL12A	Photophobia	HP:0000613
3592	IL12A	Immunologic hypersensitivity	HP:0100326
3592	IL12A	Malabsorption	HP:0002024
3592	IL12A	Retinopathy	HP:0000488
3592	IL12A	Endocarditis	HP:0100584
3592	IL12A	Blindness	HP:0000618
3592	IL12A	Abdominal pain	HP:0002027
3592	IL12A	Excessive daytime somnolence	HP:0001262
3592	IL12A	Cirrhosis	HP:0001394
3592	IL12A	Hepatic fibrosis	HP:0001395
3592	IL12A	Mitral regurgitation	HP:0001653
3592	IL12A	Hemiparesis	HP:0001269
3592	IL12A	Anorexia	HP:0002039
3592	IL12A	Hepatic failure	HP:0001399
3592	IL12A	Myocardial infarction	HP:0001658
3592	IL12A	Hepatocellular carcinoma	HP:0001402
3592	IL12A	Aortic regurgitation	HP:0001659
3592	IL12A	Myalgia	HP:0003326
3592	IL12A	Orthostatic hypotension	HP:0001278
3593	IL12B	Autosomal recessive inheritance	HP:0000007
3593	IL12B	Vasculitis	HP:0002633
3593	IL12B	Subcutaneous nodule	HP:0001482
3593	IL12B	Chest pain	HP:0100749
3593	IL12B	Arthralgia	HP:0002829
3593	IL12B	Cerebral ischemia	HP:0002637
3593	IL12B	Hyperhidrosis	HP:0000975
3593	IL12B	Abnormal endocardium morphology	HP:0004306
3593	IL12B	Reduced consciousness/confusion	HP:0004372
3593	IL12B	Gangrene	HP:0100758
3593	IL12B	Fever	HP:0001945
3593	IL12B	Arthritis	HP:0001369
3593	IL12B	Fatigue	HP:0012378
3593	IL12B	Migraine	HP:0002076
3593	IL12B	Weight loss	HP:0001824
3593	IL12B	Immunodeficiency	HP:0002721
3593	IL12B	Amaurosis fugax	HP:0100576
3593	IL12B	Seizures	HP:0001250
3593	IL12B	Hypertrophic cardiomyopathy	HP:0001639
3593	IL12B	Retinopathy	HP:0000488
3593	IL12B	Abnormal pattern of respiration	HP:0002793
3593	IL12B	Skin ulcer	HP:0200042
3593	IL12B	Ascending tubular aorta aneurysm	HP:0004970
3593	IL12B	Pulmonary arterial hypertension	HP:0002092
3593	IL12B	Muscle weakness	HP:0001324
3593	IL12B	Abnormal aortic valve morphology	HP:0001646
3593	IL12B	Anemia	HP:0001903
3593	IL12B	Inflammatory abnormality of the eye	HP:0100533
3593	IL12B	Anorexia	HP:0002039
3593	IL12B	Neurological speech impairment	HP:0002167
3593	IL12B	Hemoptysis	HP:0002105
3593	IL12B	Myocardial infarction	HP:0001658
3593	IL12B	Gastrointestinal infarctions	HP:0005244
3593	IL12B	Hypertensive crisis	HP:0100735
3593	IL12B	Myalgia	HP:0003326
3594	IL12RB1	Hypoalbuminemia	HP:0003073
3594	IL12RB1	Portal hypertension	HP:0001409
3594	IL12RB1	Dermatographic urticaria	HP:0011971
3594	IL12RB1	Ascites	HP:0001541
3594	IL12RB1	Abdominal distention	HP:0003270
3594	IL12RB1	Autosomal recessive inheritance	HP:0000007
3594	IL12RB1	Recurrent mycobacterial infections	HP:0011274
3594	IL12RB1	Elevated alkaline phosphatase	HP:0003155
3594	IL12RB1	Hepatitis	HP:0012115
3594	IL12RB1	Fatigue	HP:0012378
3594	IL12RB1	Conjugated hyperbilirubinemia	HP:0002908
3594	IL12RB1	Pruritus	HP:0000989
3594	IL12RB1	Abnormality of the intrahepatic bile duct	HP:0011040
3594	IL12RB1	Immunodeficiency	HP:0002721
3594	IL12RB1	Gastrointestinal inflammation	HP:0004386
3594	IL12RB1	Antinuclear antibody positivity	HP:0003493
3594	IL12RB1	Increased circulating IgM level	HP:0003496
3594	IL12RB1	Osteoporosis	HP:0000939
3594	IL12RB1	Onychomycosis	HP:0012203
3594	IL12RB1	Excessive daytime somnolence	HP:0001262
3594	IL12RB1	Abnormal circulating lipid concentration	HP:0003119
3594	IL12RB1	Celiac disease	HP:0002608
3594	IL12RB1	Cirrhosis	HP:0001394
3594	IL12RB1	Hepatic fibrosis	HP:0001395
3594	IL12RB1	Abnormality of the thyroid gland	HP:0000820
3594	IL12RB1	Biliary cirrhosis	HP:0002613
3594	IL12RB1	Hepatic failure	HP:0001399
3594	IL12RB1	Jaundice	HP:0000952
3594	IL12RB1	Hyperpigmentation of the skin	HP:0000953
3594	IL12RB1	Hepatocellular carcinoma	HP:0001402
3594	IL12RB1	Increased circulating IgA level	HP:0003261
3594	IL12RB1	Orthostatic hypotension	HP:0001278
200205	IBA57	Areflexia	HP:0001284
200205	IBA57	Autosomal recessive inheritance	HP:0000007
200205	IBA57	Optic atrophy	HP:0000648
200205	IBA57	Cerebral atrophy	HP:0002059
200205	IBA57	Encephalopathy	HP:0001298
200205	IBA57	Decreased activity of mitochondrial complex I	HP:0011923
200205	IBA57	Peripheral axonal neuropathy	HP:0003477
200205	IBA57	Metabolic acidosis	HP:0001942
200205	IBA57	Retrognathia	HP:0000278
200205	IBA57	Polyhydramnios	HP:0001561
200205	IBA57	Distal peripheral sensory neuropathy	HP:0007067
200205	IBA57	Babinski sign	HP:0003487
200205	IBA57	Hypoplasia of the corpus callosum	HP:0002079
200205	IBA57	Recurrent fever	HP:0001954
200205	IBA57	Hyperactive patellar reflex	HP:0007083
200205	IBA57	Severe muscular hypotonia	HP:0006829
200205	IBA57	Difficulty walking	HP:0002355
200205	IBA57	Lactic acidosis	HP:0003128
200205	IBA57	Respiratory failure	HP:0002878
200205	IBA57	Cognitive impairment	HP:0100543
200205	IBA57	Hyperreflexia	HP:0001347
200205	IBA57	Developmental regression	HP:0002376
200205	IBA57	Edema	HP:0000969
200205	IBA57	Spastic tetraplegia	HP:0002510
200205	IBA57	Polymicrogyria	HP:0002126
200205	IBA57	Wide intermamillary distance	HP:0006610
200205	IBA57	Abnormality of mitochondrial metabolism	HP:0003287
200205	IBA57	Cerebral white matter atrophy	HP:0012762
200205	IBA57	High palate	HP:0000218
200205	IBA57	Progressive	HP:0003676
200205	IBA57	Slow progression	HP:0003677
200205	IBA57	Distal lower limb muscle weakness	HP:0009053
200205	IBA57	Pes cavus	HP:0001761
200205	IBA57	Irritability	HP:0000737
200205	IBA57	Seizures	HP:0001250
200205	IBA57	Visual field defect	HP:0001123
200205	IBA57	Intrauterine growth retardation	HP:0001511
200205	IBA57	Spastic paraplegia	HP:0001258
200205	IBA57	Progressive spastic paraplegia	HP:0007020
200205	IBA57	Distal amyotrophy	HP:0003693
200205	IBA57	Leukodystrophy	HP:0002415
200205	IBA57	Decreased Achilles reflex	HP:0009072
200205	IBA57	Arthrogryposis multiplex congenita	HP:0002804
200205	IBA57	Variable expressivity	HP:0003828
200205	IBA57	EMG: neuropathic changes	HP:0003445
200205	IBA57	Distal sensory impairment	HP:0002936
200205	IBA57	Cerebellar atrophy	HP:0001272
200205	IBA57	Congenital onset	HP:0003577
200205	IBA57	Visual impairment	HP:0000505
200205	IBA57	Decreased activity of mitochondrial complex II	HP:0008314
200205	IBA57	Microcephaly	HP:0000252
200205	IBA57	Nystagmus	HP:0000639
3612	IMPA1	Intellectual disability	HP:0001249
3612	IMPA1	Autosomal recessive inheritance	HP:0000007
3612	IMPA1	Aggressive behavior	HP:0000718
3612	IMPA1	Paranoia	HP:0011999
3614	IMPDH1	Abnormal electroretinogram	HP:0000512
3614	IMPDH1	Hyperreflexia	HP:0001347
3614	IMPDH1	Autosomal dominant inheritance	HP:0000006
3614	IMPDH1	Cataract	HP:0000518
3614	IMPDH1	Hypogonadism	HP:0000135
3614	IMPDH1	Undetectable light- and dark-adapted electroretinogram	HP:0007688
3614	IMPDH1	Optic atrophy	HP:0000648
3614	IMPDH1	Infantile onset	HP:0003593
3614	IMPDH1	Hyperinsulinemia	HP:0000842
3614	IMPDH1	Anteverted nares	HP:0000463
3614	IMPDH1	Conductive hearing impairment	HP:0000405
3614	IMPDH1	Nyctalopia	HP:0000662
3614	IMPDH1	Hemiplegia/hemiparesis	HP:0004374
3614	IMPDH1	Sensorineural hearing impairment	HP:0000407
3614	IMPDH1	Abnormality of retinal pigmentation	HP:0007703
3614	IMPDH1	Ophthalmoplegia	HP:0000602
3614	IMPDH1	Type II diabetes mellitus	HP:0005978
3614	IMPDH1	Atypical scarring of skin	HP:0000987
3614	IMPDH1	Abnormality of neuronal migration	HP:0002269
3614	IMPDH1	Optic disc pallor	HP:0000543
3614	IMPDH1	Hypoplasia of penis	HP:0008736
3614	IMPDH1	Intellectual disability	HP:0001249
3614	IMPDH1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
3614	IMPDH1	Seizures	HP:0001250
3614	IMPDH1	Abnormal testis morphology	HP:0000035
3614	IMPDH1	Encephalocele	HP:0002084
3614	IMPDH1	Muscular hypotonia	HP:0001252
3614	IMPDH1	Photophobia	HP:0000613
3614	IMPDH1	Obesity	HP:0001513
3614	IMPDH1	Blindness	HP:0000618
3614	IMPDH1	Posterior subcapsular cataract	HP:0007787
3614	IMPDH1	Constriction of peripheral visual field	HP:0001133
3614	IMPDH1	Hearing impairment	HP:0000365
3614	IMPDH1	Abnormal retinal vascular morphology	HP:0008046
3614	IMPDH1	Reduced visual acuity	HP:0007663
3614	IMPDH1	Wide nasal bridge	HP:0000431
3614	IMPDH1	Global developmental delay	HP:0001263
3614	IMPDH1	Keratoconus	HP:0000563
3614	IMPDH1	Glaucoma	HP:0000501
3614	IMPDH1	Severely reduced visual acuity	HP:0001141
3614	IMPDH1	Bone spicule pigmentation of the retina	HP:0007737
3614	IMPDH1	Visual impairment	HP:0000505
3614	IMPDH1	Progressive night blindness	HP:0007675
3614	IMPDH1	Abnormality of the optic disc	HP:0012795
3614	IMPDH1	Rod-cone dystrophy	HP:0000510
3614	IMPDH1	Nystagmus	HP:0000639
3617	IMPG1	Iris hypopigmentation	HP:0007730
3617	IMPG1	Moderately reduced visual acuity	HP:0030515
3617	IMPG1	Visual field defect	HP:0001123
3617	IMPG1	Choroideremia	HP:0001139
3617	IMPG1	Autosomal dominant inheritance	HP:0000006
3617	IMPG1	Drusen	HP:0011510
3617	IMPG1	Color vision defect	HP:0000551
3617	IMPG1	Macular dystrophy	HP:0007754
3617	IMPG1	Retinal nonattachment	HP:0007899
3617	IMPG1	Vitelliform-like macular lesions	HP:0007677
3621	ING1	Autosomal recessive inheritance	HP:0000007
3621	ING1	Squamous cell carcinoma	HP:0002860
3624	INHBA	Feeding difficulties	HP:0011968
3624	INHBA	Nausea	HP:0002018
3624	INHBA	Menorrhagia	HP:0000132
3624	INHBA	Ascites	HP:0001541
3624	INHBA	Abdominal distention	HP:0003270
3624	INHBA	Ovarian mucinous tumor	HP:0031494
3624	INHBA	Cervical lymphadenopathy	HP:0025289
3624	INHBA	Urinary urgency	HP:0000012
3624	INHBA	Abdominal mass	HP:0031500
3624	INHBA	Episodic vomiting	HP:0002572
3624	INHBA	Episodic abdominal pain	HP:0002574
3624	INHBA	Endometriosis	HP:0030127
3624	INHBA	Thromboembolism	HP:0001907
3624	INHBA	Elevated carcinoembryonic antigen level	HP:0031029
3624	INHBA	Elevated carcinoma antigen 125 level	HP:0031030
3624	INHBA	Ovarian papillary adenocarcinoma	HP:0006774
3624	INHBA	Pleural effusion	HP:0002202
3624	INHBA	Intestinal obstruction	HP:0005214
3624	INHBA	Dysmenorrhea	HP:0100607
347688	TUBB8	Autosomal dominant inheritance	HP:0000006
347688	TUBB8	Autosomal recessive inheritance	HP:0000007
347688	TUBB8	Oocyte arrest at metaphase I	HP:0031516
347688	TUBB8	Female infertility	HP:0008222
3630	INS	Hyperglycemia	HP:0003074
3630	INS	Reduced pancreatic beta cells	HP:0006274
3630	INS	Clinodactyly	HP:0030084
3630	INS	Glycosuria	HP:0003076
3630	INS	Autosomal dominant inheritance	HP:0000006
3630	INS	Beta-cell dysfunction	HP:0006279
3630	INS	Autosomal recessive inheritance	HP:0000007
3630	INS	Apraxia	HP:0002186
3630	INS	Generalized tonic-clonic seizures	HP:0002069
3630	INS	Peripheral axonal neuropathy	HP:0003477
3630	INS	Dehydration	HP:0001944
3630	INS	Downturned corners of mouth	HP:0002714
3630	INS	Abnormality of the immune system	HP:0002715
3630	INS	Weight loss	HP:0001824
3630	INS	Diabetic ketoacidosis	HP:0001953
3630	INS	Pancreatic hypoplasia	HP:0002594
3630	INS	Maturity-onset diabetes of the young	HP:0004904
3630	INS	Type I diabetes mellitus	HP:0100651
3630	INS	Muscle weakness	HP:0001324
3630	INS	Limb joint contracture	HP:0003121
3630	INS	Microalbuminuria	HP:0012594
3630	INS	Diabetes mellitus	HP:0000819
3630	INS	Ketoacidosis	HP:0001993
3630	INS	Hyperinsulinemia	HP:0000842
3630	INS	Generalized myoclonic seizures	HP:0002123
3630	INS	Anteverted nares	HP:0000463
3630	INS	Bilateral ptosis	HP:0001488
3630	INS	Abnormality of the ear	HP:0000598
3630	INS	Long philtrum	HP:0000343
3630	INS	Hypsarrhythmia	HP:0002521
3630	INS	Neonatal insulin-dependent diabetes mellitus	HP:0000857
3630	INS	Abnormal heart morphology	HP:0001627
3630	INS	Seizures	HP:0001250
3630	INS	Hypovolemia	HP:0011106
3630	INS	Ataxia	HP:0001251
3630	INS	Failure to thrive	HP:0001508
3630	INS	Muscular hypotonia	HP:0001252
3630	INS	Peripheral neuropathy	HP:0009830
3630	INS	Intrauterine growth retardation	HP:0001511
3630	INS	Ketonuria	HP:0002919
3630	INS	Muscular hypotonia of the trunk	HP:0008936
3630	INS	Retinopathy	HP:0000488
3630	INS	Coma	HP:0001259
3630	INS	Hearing impairment	HP:0000365
3630	INS	Small for gestational age	HP:0001518
3630	INS	Prominent metopic ridge	HP:0005487
3630	INS	Global developmental delay	HP:0001263
3630	INS	Intellectual disability, severe	HP:0010864
3630	INS	Arthrogryposis multiplex congenita	HP:0002804
3630	INS	Motor delay	HP:0001270
3630	INS	Contractures of the joints of the lower limbs	HP:0005750
3630	INS	Radial deviation of finger	HP:0009466
3630	INS	Ptosis	HP:0000508
3630	INS	Short nose	HP:0003196
3630	INS	Renal tubular dysfunction	HP:0000124
134701	RIPPLY2	Macrocephaly	HP:0000256
134701	RIPPLY2	Umbilical hernia	HP:0001537
134701	RIPPLY2	Short thorax	HP:0010306
134701	RIPPLY2	Cervical kyphosis	HP:0002947
134701	RIPPLY2	Meningocele	HP:0002435
134701	RIPPLY2	Abnormality of the ureter	HP:0000069
134701	RIPPLY2	Rib fusion	HP:0000902
134701	RIPPLY2	Autosomal recessive inheritance	HP:0000007
134701	RIPPLY2	Abnormality of female internal genitalia	HP:0000008
134701	RIPPLY2	Congenital diaphragmatic hernia	HP:0000776
134701	RIPPLY2	Camptodactyly of finger	HP:0100490
134701	RIPPLY2	Prominent occiput	HP:0000269
134701	RIPPLY2	Anteverted nares	HP:0000463
134701	RIPPLY2	Broad forehead	HP:0000337
134701	RIPPLY2	Anomalous pulmonary venous return	HP:0010772
134701	RIPPLY2	Finger syndactyly	HP:0006101
134701	RIPPLY2	Short neck	HP:0000470
134701	RIPPLY2	Inguinal hernia	HP:0000023
134701	RIPPLY2	Long philtrum	HP:0000343
134701	RIPPLY2	Spinal canal stenosis	HP:0003416
134701	RIPPLY2	Scoliosis	HP:0002650
134701	RIPPLY2	Cryptorchidism	HP:0000028
134701	RIPPLY2	Vertebral segmentation defect	HP:0003422
134701	RIPPLY2	Depressed nasal bridge	HP:0005280
134701	RIPPLY2	Intellectual disability	HP:0001249
134701	RIPPLY2	Short stature	HP:0004322
134701	RIPPLY2	Spina bifida occulta	HP:0003298
134701	RIPPLY2	Abnormality of immune system physiology	HP:0010978
134701	RIPPLY2	Intrauterine growth retardation	HP:0001511
134701	RIPPLY2	Urogenital fistula	HP:0100589
134701	RIPPLY2	Respiratory insufficiency	HP:0002093
134701	RIPPLY2	Cleft palate	HP:0000175
134701	RIPPLY2	Hypospadias	HP:0000047
134701	RIPPLY2	Abnormal form of the vertebral bodies	HP:0003312
134701	RIPPLY2	Low-set, posteriorly rotated ears	HP:0000368
134701	RIPPLY2	Butterfly vertebrae	HP:0003316
134701	RIPPLY2	Abnormality of the intervertebral disk	HP:0005108
134701	RIPPLY2	Kyphosis	HP:0002808
134701	RIPPLY2	Hemivertebrae	HP:0002937
134701	RIPPLY2	Microcephaly	HP:0000252
134701	RIPPLY2	Rib segmentation abnormalities	HP:0006655
388662	SLC6A17	Absent speech	HP:0001344
388662	SLC6A17	Blepharophimosis	HP:0000581
388662	SLC6A17	Self-mutilation	HP:0000742
388662	SLC6A17	Autosomal recessive inheritance	HP:0000007
388662	SLC6A17	Kinetic tremor	HP:0030186
388662	SLC6A17	Inability to walk	HP:0002540
388662	SLC6A17	Aggressive behavior	HP:0000718
388662	SLC6A17	Global developmental delay	HP:0001263
388662	SLC6A17	Mandibular prognathia	HP:0000303
388662	SLC6A17	Intellectual disability, severe	HP:0010864
388662	SLC6A17	Macrotia	HP:0000400
388662	SLC6A17	Waddling gait	HP:0002515
388662	SLC6A17	Small hand	HP:0200055
388662	SLC6A17	Long philtrum	HP:0000343
3636	INPPL1	Macrocephaly	HP:0000256
3636	INPPL1	Protuberant abdomen	HP:0001538
3636	INPPL1	Brachydactyly	HP:0001156
3636	INPPL1	Short ribs	HP:0000773
3636	INPPL1	Narrow chest	HP:0000774
3636	INPPL1	Autosomal recessive inheritance	HP:0000007
3636	INPPL1	Hypoplastic toenails	HP:0001800
3636	INPPL1	Generalized hypotonia	HP:0001290
3636	INPPL1	Anterior rib cupping	HP:0000907
3636	INPPL1	Dolichocephaly	HP:0000268
3636	INPPL1	Malar flattening	HP:0000272
3636	INPPL1	Polyhydramnios	HP:0001561
3636	INPPL1	Posterior rib cupping	HP:0000922
3636	INPPL1	Diaphyseal thickening	HP:0005019
3636	INPPL1	Cryptorchidism	HP:0000028
3636	INPPL1	Recurrent respiratory infections	HP:0002205
3636	INPPL1	Tapered finger	HP:0001182
3636	INPPL1	Hypoplastic vertebral bodies	HP:0008479
3636	INPPL1	Depressed nasal bridge	HP:0005280
3636	INPPL1	Micromelia	HP:0002983
3636	INPPL1	Broad thumb	HP:0011304
3636	INPPL1	Disproportionate short-limb short stature	HP:0008873
3636	INPPL1	Abnormality of epiphysis morphology	HP:0005930
3636	INPPL1	Advanced tarsal ossification	HP:0008108
3636	INPPL1	Respiratory insufficiency	HP:0002093
3636	INPPL1	Cleft palate	HP:0000175
3636	INPPL1	Abnormality of the metaphysis	HP:0000944
3636	INPPL1	Hypoplastic ilia	HP:0000946
3636	INPPL1	Dumbbell-shaped long bone	HP:0000947
3636	INPPL1	Severe short stature	HP:0003510
3636	INPPL1	Bell-shaped thorax	HP:0001591
3636	INPPL1	Short palm	HP:0004279
3636	INPPL1	Hypertelorism	HP:0000316
3636	INPPL1	Delayed skeletal maturation	HP:0002750
3636	INPPL1	Hepatomegaly	HP:0002240
3636	INPPL1	Rhizomelia	HP:0008905
3636	INPPL1	Edema	HP:0000969
3636	INPPL1	Increased fibular diameter	HP:0012107
3636	INPPL1	Metaphyseal cupping	HP:0003021
3636	INPPL1	Anteverted nares	HP:0000463
3636	INPPL1	Abnormal fingernail morphology	HP:0001231
3636	INPPL1	Blue sclerae	HP:0000592
3636	INPPL1	Splenomegaly	HP:0001744
3636	INPPL1	Short long bone	HP:0003026
3636	INPPL1	Severe platyspondyly	HP:0004565
3636	INPPL1	Short neck	HP:0000470
3636	INPPL1	Long philtrum	HP:0000343
3636	INPPL1	Frontal bossing	HP:0002007
3636	INPPL1	Abnormally ossified vertebrae	HP:0100569
3636	INPPL1	Flat occiput	HP:0005469
3636	INPPL1	Fibular hypoplasia	HP:0003038
3636	INPPL1	Hypophosphatemia	HP:0002148
3636	INPPL1	Muscular hypotonia	HP:0001252
3636	INPPL1	Hypoplastic pubic bone	HP:0003173
3636	INPPL1	Hypoplastic ischia	HP:0003175
3636	INPPL1	Squared iliac bones	HP:0003177
3636	INPPL1	Joint stiffness	HP:0001387
3636	INPPL1	Flat acetabular roof	HP:0003180
3636	INPPL1	Lymphedema	HP:0001004
3636	INPPL1	Short foot	HP:0001773
3636	INPPL1	Large fontanelles	HP:0000239
3636	INPPL1	Accelerated skeletal maturation	HP:0005616
3636	INPPL1	Hypoplastic scapulae	HP:0000882
3636	INPPL1	Renal phosphate wasting	HP:0000117
3636	INPPL1	Short nose	HP:0003196
3636	INPPL1	Pectus excavatum	HP:0000767
3636	INPPL1	Lateral clavicle hook	HP:0000895
3640	INSL3	Unilateral cryptorchidism	HP:0012741
3640	INSL3	Autosomal dominant inheritance	HP:0000006
3640	INSL3	Renal agenesis	HP:0000104
3643	INSR	Umbilical hernia	HP:0001537
3643	INSR	Hyperglycemia	HP:0003074
3643	INSR	Gynecomastia	HP:0000771
3643	INSR	Autosomal dominant inheritance	HP:0000006
3643	INSR	Autosomal recessive inheritance	HP:0000007
3643	INSR	Proptosis	HP:0000520
3643	INSR	Hypermelanotic macule	HP:0001034
3643	INSR	Onychogryposis	HP:0001805
3643	INSR	Generalized hyperpigmentation	HP:0007440
3643	INSR	Small face	HP:0000274
3643	INSR	Inguinal hernia	HP:0000023
3643	INSR	Coarse facial features	HP:0000280
3643	INSR	Cryptorchidism	HP:0000028
3643	INSR	Long penis	HP:0000040
3643	INSR	Long foot	HP:0001833
3643	INSR	Hypoglycemic coma	HP:0001325
3643	INSR	Mandibular prognathia	HP:0000303
3643	INSR	Diabetes mellitus	HP:0000819
3643	INSR	Abnormality of the thyroid gland	HP:0000820
3643	INSR	Prominent nipples	HP:0004405
3643	INSR	Delayed puberty	HP:0000823
3643	INSR	Hyperinsulinemic hypoglycemia	HP:0000825
3643	INSR	Precocious puberty	HP:0000826
3643	INSR	Hypertelorism	HP:0000316
3643	INSR	Insulin-resistant diabetes mellitus	HP:0000831
3643	INSR	Prematurely aged appearance	HP:0007495
3643	INSR	Asymmetry of the breasts	HP:0010312
3643	INSR	Abnormal C-peptide level	HP:0030794
3643	INSR	Hyperinsulinemia	HP:0000842
3643	INSR	Elfin facies	HP:0004428
3643	INSR	Growth hormone excess	HP:0000845
3643	INSR	Insulin resistance	HP:0000855
3643	INSR	Type II diabetes mellitus	HP:0005978
3643	INSR	Fatigue	HP:0012378
3643	INSR	Fasting hypoglycemia	HP:0003162
3643	INSR	Fasting hyperinsulinemia	HP:0008283
3643	INSR	Proteinuria	HP:0000093
3643	INSR	Peripheral neuropathy	HP:0009830
3643	INSR	Hearing abnormality	HP:0000364
3643	INSR	Low-set, posteriorly rotated ears	HP:0000368
3643	INSR	Low-set ears	HP:0000369
3643	INSR	Hepatic fibrosis	HP:0001395
3643	INSR	Cholestasis	HP:0001396
3643	INSR	Nail dysplasia	HP:0002164
3643	INSR	Hypoglycemic seizures	HP:0002173
3643	INSR	Skeletal muscle atrophy	HP:0003202
3643	INSR	Brachydactyly	HP:0001156
3643	INSR	Ovarian cyst	HP:0000138
3643	INSR	Advanced eruption of teeth	HP:0006288
3643	INSR	Macrotia	HP:0000400
3643	INSR	Heterogeneous	HP:0001425
3643	INSR	High, narrow palate	HP:0002705
3643	INSR	Polycystic ovaries	HP:0000147
3643	INSR	Hypoglycemia	HP:0001943
3643	INSR	Large hands	HP:0001176
3643	INSR	Wide mouth	HP:0000154
3643	INSR	Recurrent respiratory infections	HP:0002205
3643	INSR	Pancreatic islet-cell hyperplasia	HP:0004510
3643	INSR	Recurrent infections	HP:0002719
3643	INSR	Coarse hair	HP:0002208
3643	INSR	Depressed nasal bridge	HP:0005280
3643	INSR	Diabetic ketoacidosis	HP:0001953
3643	INSR	Feeding difficulties in infancy	HP:0008872
3643	INSR	Thick lower lip vermilion	HP:0000179
3643	INSR	Generalized hirsutism	HP:0002230
3643	INSR	Abnormality of the upper urinary tract	HP:0010935
3643	INSR	Adipose tissue loss	HP:0008887
3643	INSR	Acanthosis nigricans	HP:0000956
3643	INSR	Dry skin	HP:0000958
3643	INSR	Cognitive impairment	HP:0100543
3643	INSR	Delayed skeletal maturation	HP:0002750
3643	INSR	Postnatal growth retardation	HP:0008897
3643	INSR	Hyperkeratosis	HP:0000962
3643	INSR	Recurrent hypoglycemia	HP:0001988
3643	INSR	Abdominal distention	HP:0003270
3643	INSR	Thick nasal alae	HP:0009928
3643	INSR	Abnormality of the abdominal wall	HP:0004298
3643	INSR	Subcutaneous nodule	HP:0001482
3643	INSR	Abnormal facial shape	HP:0001999
3643	INSR	Gingival overgrowth	HP:0000212
3643	INSR	Clitoral hypertrophy	HP:0008665
3643	INSR	Female pseudohermaphroditism	HP:0010458
3643	INSR	Thickened nuchal skin fold	HP:0000474
3643	INSR	High palate	HP:0000218
3643	INSR	Postprandial hyperglycemia	HP:0011998
3643	INSR	Short stature	HP:0004322
3643	INSR	Seizures	HP:0001250
3643	INSR	Lipoatrophy	HP:0100578
3643	INSR	Cachexia	HP:0004326
3643	INSR	Hypertrichosis	HP:0000998
3643	INSR	Intrauterine growth retardation	HP:0001511
3643	INSR	Coma	HP:0001259
3643	INSR	Small for gestational age	HP:0001518
3643	INSR	Global developmental delay	HP:0001263
3643	INSR	Accelerated skeletal maturation	HP:0005616
3643	INSR	Severe failure to thrive	HP:0001525
3643	INSR	Microcephaly	HP:0000252
3643	INSR	Onychauxis	HP:0012542
3651	PDX1	Hyperglycemia	HP:0003074
3651	PDX1	Reduced pancreatic beta cells	HP:0006274
3651	PDX1	Clinodactyly	HP:0030084
3651	PDX1	Glycosuria	HP:0003076
3651	PDX1	Autosomal dominant inheritance	HP:0000006
3651	PDX1	Autosomal recessive inheritance	HP:0000007
3651	PDX1	Beta-cell dysfunction	HP:0006279
3651	PDX1	Apraxia	HP:0002186
3651	PDX1	Generalized tonic-clonic seizures	HP:0002069
3651	PDX1	Peripheral axonal neuropathy	HP:0003477
3651	PDX1	Dehydration	HP:0001944
3651	PDX1	Downturned corners of mouth	HP:0002714
3651	PDX1	Abnormality of the immune system	HP:0002715
3651	PDX1	Weight loss	HP:0001824
3651	PDX1	Pancreatic hypoplasia	HP:0002594
3651	PDX1	Maturity-onset diabetes of the young	HP:0004904
3651	PDX1	Muscle weakness	HP:0001324
3651	PDX1	Limb joint contracture	HP:0003121
3651	PDX1	Microalbuminuria	HP:0012594
3651	PDX1	Diabetes mellitus	HP:0000819
3651	PDX1	Ketoacidosis	HP:0001993
3651	PDX1	Exocrine pancreatic insufficiency	HP:0001738
3651	PDX1	Generalized myoclonic seizures	HP:0002123
3651	PDX1	Anteverted nares	HP:0000463
3651	PDX1	Bilateral ptosis	HP:0001488
3651	PDX1	Abnormality of the ear	HP:0000598
3651	PDX1	Long philtrum	HP:0000343
3651	PDX1	Neonatal insulin-dependent diabetes mellitus	HP:0000857
3651	PDX1	Hypsarrhythmia	HP:0002521
3651	PDX1	Type II diabetes mellitus	HP:0005978
3651	PDX1	Abnormal heart morphology	HP:0001627
3651	PDX1	Seizures	HP:0001250
3651	PDX1	Hypovolemia	HP:0011106
3651	PDX1	Ataxia	HP:0001251
3651	PDX1	Failure to thrive	HP:0001508
3651	PDX1	Muscular hypotonia	HP:0001252
3651	PDX1	Peripheral neuropathy	HP:0009830
3651	PDX1	Intrauterine growth retardation	HP:0001511
3651	PDX1	Ketonuria	HP:0002919
3651	PDX1	Muscular hypotonia of the trunk	HP:0008936
3651	PDX1	Retinopathy	HP:0000488
3651	PDX1	Coma	HP:0001259
3651	PDX1	Hearing impairment	HP:0000365
3651	PDX1	Small for gestational age	HP:0001518
3651	PDX1	Prominent metopic ridge	HP:0005487
3651	PDX1	Global developmental delay	HP:0001263
3651	PDX1	Intellectual disability, severe	HP:0010864
3651	PDX1	Arthrogryposis multiplex congenita	HP:0002804
3651	PDX1	Motor delay	HP:0001270
3651	PDX1	Contractures of the joints of the lower limbs	HP:0005750
3651	PDX1	Radial deviation of finger	HP:0009466
3651	PDX1	Ptosis	HP:0000508
3651	PDX1	Short nose	HP:0003196
3651	PDX1	Renal tubular dysfunction	HP:0000124
3653	IPW	Clinodactyly	HP:0030084
3653	IPW	Acromicria	HP:0031878
3653	IPW	Syndactyly	HP:0001159
3653	IPW	Generalized hypotonia	HP:0001290
3653	IPW	Dolichocephaly	HP:0000268
3653	IPW	Primary amenorrhea	HP:0000786
3653	IPW	Infertility	HP:0000789
3653	IPW	Decreased fetal movement	HP:0001558
3653	IPW	Downturned corners of mouth	HP:0002714
3653	IPW	Cryptorchidism	HP:0000028
3653	IPW	Hypermetropia	HP:0000540
3653	IPW	Recurrent respiratory infections	HP:0002205
3653	IPW	Carious teeth	HP:0000670
3653	IPW	Polyphagia	HP:0002591
3653	IPW	Impaired pain sensation	HP:0007328
3653	IPW	Sporadic	HP:0003745
3653	IPW	Myopia	HP:0000545
3653	IPW	Sleep apnea	HP:0010535
3653	IPW	Neonatal hypotonia	HP:0001319
3653	IPW	Genu valgum	HP:0002857
3653	IPW	Osteopenia	HP:0000938
3653	IPW	Osteoporosis	HP:0000939
3653	IPW	Hypogonadotrophic hypogonadism	HP:0000044
3653	IPW	Scrotal hypoplasia	HP:0000046
3653	IPW	Specific learning disability	HP:0001328
3653	IPW	Iris hypopigmentation	HP:0007730
3653	IPW	Esotropia	HP:0000565
3653	IPW	Micropenis	HP:0000054
3653	IPW	Delayed puberty	HP:0000823
3653	IPW	Short palm	HP:0004279
3653	IPW	Growth hormone deficiency	HP:0000824
3653	IPW	Precocious puberty	HP:0000826
3653	IPW	Narrow palm	HP:0004283
3653	IPW	Frontal upsweep of hair	HP:0002236
3653	IPW	Clitoral hypoplasia	HP:0000060
3653	IPW	Narrow nasal bridge	HP:0000446
3653	IPW	Hypoplastic labia minora	HP:0000064
3653	IPW	Almond-shaped palpebral fissure	HP:0007874
3653	IPW	Psychosis	HP:0000709
3653	IPW	Upslanted palpebral fissure	HP:0000582
3653	IPW	Ventriculomegaly	HP:0002119
3653	IPW	Abdominal obesity	HP:0012743
3653	IPW	Hyperinsulinemia	HP:0000842
3653	IPW	Nasal speech	HP:0001611
3653	IPW	Autism	HP:0000717
3653	IPW	Adrenal insufficiency	HP:0000846
3653	IPW	Temperature instability	HP:0005968
3653	IPW	Narrow forehead	HP:0000341
3653	IPW	Generalized hypopigmentation	HP:0007513
3653	IPW	Type II diabetes mellitus	HP:0005978
3653	IPW	Scoliosis	HP:0002650
3653	IPW	Thin upper lip vermilion	HP:0000219
3653	IPW	Hypopigmentation of hair	HP:0005599
3653	IPW	Cutaneous photosensitivity	HP:0000992
3653	IPW	Seizures	HP:0001250
3653	IPW	Short stature	HP:0004322
3653	IPW	Poor fine motor coordination	HP:0007010
3653	IPW	Poor gross motor coordination	HP:0007015
3653	IPW	Hypoventilation	HP:0002791
3653	IPW	Hip dysplasia	HP:0001385
3653	IPW	Attention deficit hyperactivity disorder	HP:0007018
3653	IPW	Oligomenorrhea	HP:0000876
3653	IPW	Short foot	HP:0001773
3653	IPW	Delayed speech and language development	HP:0000750
3653	IPW	Global developmental delay	HP:0001263
3653	IPW	Poor suck	HP:0002033
3653	IPW	Small hand	HP:0200055
3653	IPW	Motor delay	HP:0001270
3653	IPW	Kyphosis	HP:0002808
3653	IPW	Radial deviation of finger	HP:0009466
3653	IPW	Failure to thrive in infancy	HP:0001531
3653	IPW	Decreased muscle mass	HP:0003199
3655	ITGA6	Urethral stricture	HP:0012227
3655	ITGA6	Fragile skin	HP:0001030
3655	ITGA6	Anonychia	HP:0001798
3655	ITGA6	Abdominal distention	HP:0003270
3655	ITGA6	Ureterocele	HP:0000070
3655	ITGA6	Autosomal recessive inheritance	HP:0000007
3655	ITGA6	Renal duplication	HP:0000075
3655	ITGA6	Junctional split	HP:0003341
3655	ITGA6	Ectropion	HP:0000656
3655	ITGA6	Nail dystrophy	HP:0008404
3655	ITGA6	Hematuria	HP:0000790
3655	ITGA6	Polyhydramnios	HP:0001561
3655	ITGA6	Hypoplasia of dental enamel	HP:0006297
3655	ITGA6	Intestinal atresia	HP:0011100
3655	ITGA6	Milia	HP:0001056
3655	ITGA6	Elevated maternal serum alpha-fetoprotein	HP:0005984
3655	ITGA6	Urinary bladder inflammation	HP:0100577
3655	ITGA6	Aplasia cutis congenita	HP:0001057
3655	ITGA6	Nausea and vomiting	HP:0002017
3655	ITGA6	Oral mucosal blisters	HP:0200097
3655	ITGA6	Pterygium	HP:0001059
3655	ITGA6	Axillary pterygium	HP:0001060
3655	ITGA6	Aplasia of the bladder	HP:0010477
3655	ITGA6	Recurrent skin infections	HP:0001581
3655	ITGA6	Renal dysplasia	HP:0000110
3655	ITGA6	Congenital pyloric atresia	HP:0004399
3655	ITGA6	Esophageal atresia	HP:0002032
3655	ITGA6	Death in infancy	HP:0001522
3655	ITGA6	Atrophic scars	HP:0001075
3655	ITGA6	Arthrogryposis multiplex congenita	HP:0002804
3655	ITGA6	Nail dysplasia	HP:0002164
3655	ITGA6	Abnormality of the genitourinary system	HP:0000119
3655	ITGA6	Congenital onset	HP:0003577
3655	ITGA6	Intractable diarrhea	HP:0002041
3655	ITGA6	Hydronephrosis	HP:0000126
28234	SLCO1B3	Autosomal recessive inheritance	HP:0000007
28234	SLCO1B3	Abnormality of the gastric mucosa	HP:0004295
28234	SLCO1B3	Jaundice	HP:0000952
28234	SLCO1B3	Abnormality of skin pigmentation	HP:0001000
28234	SLCO1B3	Fever	HP:0001945
28234	SLCO1B3	Abdominal pain	HP:0002027
28234	SLCO1B3	Conjugated hyperbilirubinemia	HP:0002908
28234	SLCO1B3	Abnormality of the skeletal system	HP:0000924
3659	IRF1	Somatic mutation	HP:0001428
3659	IRF1	Increased level of L-fucose in urine	HP:0410067
3659	IRF1	Autosomal dominant inheritance	HP:0000006
3659	IRF1	Alveolar cell carcinoma	HP:0006519
3659	IRF1	Autosomal recessive inheritance	HP:0000007
3659	IRF1	Stomach cancer	HP:0012126
3663	IRF5	Joint contracture of the hand	HP:0009473
3663	IRF5	Hypoalbuminemia	HP:0003073
3663	IRF5	Portal hypertension	HP:0001409
3663	IRF5	Ascites	HP:0001541
3663	IRF5	Arthralgia	HP:0002829
3663	IRF5	Autoimmunity	HP:0002960
3663	IRF5	Hypopigmented skin patches	HP:0001053
3663	IRF5	Pulmonary fibrosis	HP:0002206
3663	IRF5	Carious teeth	HP:0000670
3663	IRF5	Abnormality of the intrahepatic bile duct	HP:0011040
3663	IRF5	Gastrointestinal inflammation	HP:0004386
3663	IRF5	Antinuclear antibody positivity	HP:0003493
3663	IRF5	Increased circulating IgM level	HP:0003496
3663	IRF5	Oliguria	HP:0100520
3663	IRF5	Osteoporosis	HP:0000939
3663	IRF5	Onychomycosis	HP:0012203
3663	IRF5	Pulmonary arterial hypertension	HP:0002092
3663	IRF5	Muscle weakness	HP:0001324
3663	IRF5	Contractures involving the joints of the feet	HP:0008366
3663	IRF5	Dyspnea	HP:0002094
3663	IRF5	Abnormal circulating lipid concentration	HP:0003119
3663	IRF5	Celiac disease	HP:0002608
3663	IRF5	Abnormality of the thyroid gland	HP:0000820
3663	IRF5	Biliary cirrhosis	HP:0002613
3663	IRF5	Jaundice	HP:0000952
3663	IRF5	Hyperpigmentation of the skin	HP:0000953
3663	IRF5	Increased circulating IgA level	HP:0003261
3663	IRF5	Abnormal bowel sounds	HP:0030142
3663	IRF5	Dyspareunia	HP:0030016
3663	IRF5	Pulmonary infiltrates	HP:0002113
3663	IRF5	Dermatographic urticaria	HP:0011971
3663	IRF5	Abdominal distention	HP:0003270
3663	IRF5	Renal insufficiency	HP:0000083
3663	IRF5	Elevated alkaline phosphatase	HP:0003155
3663	IRF5	Hepatitis	HP:0012115
3663	IRF5	Arthritis	HP:0001369
3663	IRF5	Xerostomia	HP:0000217
3663	IRF5	Fatigue	HP:0012378
3663	IRF5	Flexion contracture	HP:0001371
3663	IRF5	Conjugated hyperbilirubinemia	HP:0002908
3663	IRF5	Pruritus	HP:0000989
3663	IRF5	Dysphagia	HP:0002015
3663	IRF5	Narrow foramen obturatorium	HP:0100958
3663	IRF5	Nausea and vomiting	HP:0002017
3663	IRF5	Mucosal telangiectasiae	HP:0100579
3663	IRF5	Congestive heart failure	HP:0001635
3663	IRF5	Gastroesophageal reflux	HP:0002020
3663	IRF5	Telangiectasia of the skin	HP:0100585
3663	IRF5	Malabsorption	HP:0002024
3663	IRF5	Skin ulcer	HP:0200042
3663	IRF5	Osteolysis	HP:0002797
3663	IRF5	Excessive daytime somnolence	HP:0001262
3663	IRF5	Cirrhosis	HP:0001394
3663	IRF5	Hepatic fibrosis	HP:0001395
3663	IRF5	Hepatic failure	HP:0001399
3663	IRF5	Hepatocellular carcinoma	HP:0001402
3663	IRF5	Hypertensive crisis	HP:0100735
3663	IRF5	Orthostatic hypotension	HP:0001278
3664	IRF6	Bifid uvula	HP:0000193
3664	IRF6	Lower lip pit	HP:0000196
3664	IRF6	Abnormality of the ribs	HP:0000772
3664	IRF6	Choanal atresia	HP:0000453
3664	IRF6	Autosomal dominant inheritance	HP:0000006
3664	IRF6	Hypoplasia of the maxilla	HP:0000327
3664	IRF6	Cleft upper lip	HP:0000204
3664	IRF6	Hypoplasia of the uterus	HP:0000013
3664	IRF6	Split hand	HP:0001171
3664	IRF6	Finger syndactyly	HP:0006101
3664	IRF6	Hypoplasia of the vagina	HP:0008726
3664	IRF6	Dementia	HP:0000726
3664	IRF6	Fibrous syngnathia	HP:0009754
3664	IRF6	Scoliosis	HP:0002650
3664	IRF6	Ankyloblepharon	HP:0009755
3664	IRF6	Thin upper lip vermilion	HP:0000219
3664	IRF6	Micrognathia	HP:0000347
3664	IRF6	Cryptorchidism	HP:0000028
3664	IRF6	Popliteal pterygium	HP:0009756
3664	IRF6	Hypodontia	HP:0000668
3664	IRF6	Intercrural pterygium	HP:0009757
3664	IRF6	Pyramidal skinfold extending from the base to the top of the nails	HP:0009758
3664	IRF6	Nonketotic hyperglycinemia	HP:0008288
3664	IRF6	Spina bifida occulta	HP:0003298
3664	IRF6	Talipes equinovarus	HP:0001762
3664	IRF6	Oligodontia	HP:0000677
3664	IRF6	Toe syndactyly	HP:0001770
3664	IRF6	Lip pit	HP:0100267
3664	IRF6	Joint stiffness	HP:0001387
3664	IRF6	Scrotal hypoplasia	HP:0000046
3664	IRF6	Non-midline cleft lip	HP:0100335
3664	IRF6	Abnormal salivary gland morphology	HP:0010286
3664	IRF6	Cleft palate	HP:0000175
3664	IRF6	Bifid scrotum	HP:0000048
3664	IRF6	Specific learning disability	HP:0001328
3664	IRF6	Microdontia	HP:0000691
3664	IRF6	Generalized hirsutism	HP:0002230
3664	IRF6	Cutaneous finger syndactyly	HP:0010554
3664	IRF6	Hypoplastic labia majora	HP:0000059
3664	IRF6	Abnormality of the nail	HP:0001597
3664	IRF6	Ambiguous genitalia	HP:0000062
347733	TUBB2B	Skeletal muscle atrophy	HP:0003202
347733	TUBB2B	Drooling	HP:0002307
347733	TUBB2B	Hyperreflexia	HP:0001347
347733	TUBB2B	Limited extraocular movements	HP:0007941
347733	TUBB2B	Autosomal dominant inheritance	HP:0000006
347733	TUBB2B	Cataract	HP:0000518
347733	TUBB2B	Autosomal recessive inheritance	HP:0000007
347733	TUBB2B	Gait disturbance	HP:0001288
347733	TUBB2B	Unilateral polymicrogyria	HP:0006927
347733	TUBB2B	Frontoparietal cortical dysplasia	HP:0006930
347733	TUBB2B	Congenital fibrosis of extraocular muscles	HP:0001491
347733	TUBB2B	Pachygyria	HP:0001302
347733	TUBB2B	Abnormality of the eye	HP:0000478
347733	TUBB2B	Hypoplasia of the corpus callosum	HP:0002079
347733	TUBB2B	Intellectual disability	HP:0001249
347733	TUBB2B	Seizures	HP:0001250
347733	TUBB2B	Short stature	HP:0004322
347733	TUBB2B	Ataxia	HP:0001251
347733	TUBB2B	Muscular hypotonia	HP:0001252
347733	TUBB2B	Strabismus	HP:0000486
347733	TUBB2B	Cerebellar hypoplasia	HP:0001321
347733	TUBB2B	Global developmental delay	HP:0001263
347733	TUBB2B	Specific learning disability	HP:0001328
347733	TUBB2B	Variable expressivity	HP:0003828
347733	TUBB2B	Cerebral palsy	HP:0100021
347733	TUBB2B	Hemiparesis	HP:0001269
347733	TUBB2B	Motor delay	HP:0001270
347733	TUBB2B	Abnormality of vision	HP:0000504
347733	TUBB2B	Agenesis of corpus callosum	HP:0001274
347733	TUBB2B	Microcephaly	HP:0000252
3665	IRF7	Immunodeficiency	HP:0002721
3665	IRF7	Autosomal recessive inheritance	HP:0000007
3670	ISL1	Hypoplasia of penis	HP:0008736
3670	ISL1	Umbilical hernia	HP:0001537
3670	ISL1	Omphalocele	HP:0001539
3670	ISL1	Bladder exstrophy	HP:0002836
3670	ISL1	Intestinal malrotation	HP:0002566
3670	ISL1	Epispadias	HP:0000039
3670	ISL1	Inguinal hernia	HP:0000023
3670	ISL1	Abnormality of the clitoris	HP:0000056
3670	ISL1	Recurrent urinary tract infections	HP:0000010
3670	ISL1	Abnormality of the anus	HP:0004378
3670	ISL1	Vesicoureteral reflux	HP:0000076
3670	ISL1	Bowel incontinence	HP:0002607
3673	ITGA2	Thrombocytopenia	HP:0001873
3673	ITGA2	Bruising susceptibility	HP:0000978
3673	ITGA2	Autosomal dominant inheritance	HP:0000006
3673	ITGA2	Congenital onset	HP:0003577
3674	ITGA2B	Prolonged bleeding time	HP:0003010
3674	ITGA2B	Menorrhagia	HP:0000132
3674	ITGA2B	Ecchymosis	HP:0031364
3674	ITGA2B	Autosomal dominant inheritance	HP:0000006
3674	ITGA2B	Petechiae	HP:0000967
3674	ITGA2B	Autosomal recessive inheritance	HP:0000007
3674	ITGA2B	Menometrorrhagia	HP:0400008
3674	ITGA2B	Bruising susceptibility	HP:0000978
3674	ITGA2B	Purpura	HP:0000979
3674	ITGA2B	Impaired platelet aggregation	HP:0003540
3674	ITGA2B	Impaired clot retraction	HP:0031126
3674	ITGA2B	Impaired ristocetin-induced platelet aggregation	HP:0011871
3674	ITGA2B	Gingival bleeding	HP:0000225
3674	ITGA2B	Epistaxis	HP:0000421
3674	ITGA2B	Macroscopic hematuria	HP:0012587
3674	ITGA2B	Giant platelets	HP:0001902
3674	ITGA2B	Prolonged bleeding after surgery	HP:0004846
3674	ITGA2B	Anemia	HP:0001903
3674	ITGA2B	Spontaneous, recurrent epistaxis	HP:0004406
3674	ITGA2B	Decreased platelet glycoprotein IIb-IIIa	HP:0001975
3674	ITGA2B	Macrothrombocytopenia	HP:0040185
3674	ITGA2B	Prolonged bleeding following circumcision	HP:0030137
3674	ITGA2B	Intracranial hemorrhage	HP:0002170
3674	ITGA2B	Spontaneous hematomas	HP:0007420
3674	ITGA2B	Gastrointestinal hemorrhage	HP:0002239
3675	ITGA3	Hypoalbuminemia	HP:0003073
3675	ITGA3	Interstitial pulmonary abnormality	HP:0006530
3675	ITGA3	Abnormal blistering of the skin	HP:0008066
3675	ITGA3	Gynecomastia	HP:0000771
3675	ITGA3	Fragile skin	HP:0001030
3675	ITGA3	Narrow chest	HP:0000774
3675	ITGA3	Autosomal recessive inheritance	HP:0000007
3675	ITGA3	Sparse eyelashes	HP:0000653
3675	ITGA3	Onycholysis	HP:0001806
3675	ITGA3	Macrotia	HP:0000400
3675	ITGA3	Neonatal respiratory distress	HP:0002643
3675	ITGA3	Renal insufficiency	HP:0000083
3675	ITGA3	Respiratory acidosis	HP:0005972
3675	ITGA3	Prominent forehead	HP:0011220
3675	ITGA3	Nail dystrophy	HP:0008404
3675	ITGA3	Sparse and thin eyebrow	HP:0000535
3675	ITGA3	Tubular atrophy	HP:0000092
3675	ITGA3	Recurrent respiratory infections	HP:0002205
3675	ITGA3	Proteinuria	HP:0000093
3675	ITGA3	Erythema	HP:0010783
3675	ITGA3	Narrow mouth	HP:0000160
3675	ITGA3	Sparse scalp hair	HP:0002209
3675	ITGA3	Focal segmental glomerulosclerosis	HP:0000097
3675	ITGA3	Nephrotic syndrome	HP:0000100
3675	ITGA3	Muscular hypotonia	HP:0001252
3675	ITGA3	Fine hair	HP:0002213
3675	ITGA3	Respiratory distress	HP:0002098
3675	ITGA3	Decreased glomerular filtration rate	HP:0012213
3675	ITGA3	Round face	HP:0000311
3675	ITGA3	Microcephaly	HP:0000252
3675	ITGA3	Hypertelorism	HP:0000316
3679	ITGA7	Skeletal muscle atrophy	HP:0003202
3679	ITGA7	EMG: myopathic abnormalities	HP:0003458
3679	ITGA7	Fatty replacement of skeletal muscle	HP:0012548
3679	ITGA7	Autosomal recessive inheritance	HP:0000007
3679	ITGA7	Infantile onset	HP:0003593
3679	ITGA7	Long face	HP:0000276
3679	ITGA7	Calf muscle hypertrophy	HP:0008981
3679	ITGA7	Decreased fetal movement	HP:0001558
3679	ITGA7	Polyhydramnios	HP:0001561
3679	ITGA7	Cryptorchidism	HP:0000028
3679	ITGA7	Congenital muscular dystrophy	HP:0003741
3679	ITGA7	Recurrent respiratory infections	HP:0002205
3679	ITGA7	Type 1 muscle fiber atrophy	HP:0011807
3679	ITGA7	Reduced tendon reflexes	HP:0001315
3679	ITGA7	Elevated serum creatine kinase	HP:0003236
3679	ITGA7	Neonatal hypotonia	HP:0001319
3679	ITGA7	Pulmonary hypoplasia	HP:0002089
3679	ITGA7	Elbow flexion contracture	HP:0002987
3679	ITGA7	Muscle weakness	HP:0001324
3679	ITGA7	Tented upper lip vermilion	HP:0010804
3679	ITGA7	Respiratory insufficiency due to muscle weakness	HP:0002747
3679	ITGA7	Cognitive impairment	HP:0100543
3679	ITGA7	Kyphoscoliosis	HP:0002751
3679	ITGA7	Ankle contracture	HP:0006466
3679	ITGA7	Hip contracture	HP:0003273
3679	ITGA7	Weak cry	HP:0001612
3679	ITGA7	Waddling gait	HP:0002515
3679	ITGA7	Scoliosis	HP:0002650
3679	ITGA7	Ophthalmoplegia	HP:0000602
3679	ITGA7	High palate	HP:0000218
3679	ITGA7	Micrognathia	HP:0000347
3679	ITGA7	Congenital hip dislocation	HP:0001374
3679	ITGA7	Intellectual disability	HP:0001249
3679	ITGA7	Short stature	HP:0004322
3679	ITGA7	Talipes equinovarus	HP:0001762
3679	ITGA7	Failure to thrive	HP:0001508
3679	ITGA7	Muscular hypotonia	HP:0001252
3679	ITGA7	Increased variability in muscle fiber diameter	HP:0003557
3679	ITGA7	Reduced vital capacity	HP:0002792
3679	ITGA7	Scapular winging	HP:0003691
3679	ITGA7	Hyperlordosis	HP:0003307
3679	ITGA7	Knee flexion contracture	HP:0006380
3679	ITGA7	Joint laxity	HP:0001388
3679	ITGA7	Dilated cardiomyopathy	HP:0001644
3679	ITGA7	Fatigable weakness of bulbar muscles	HP:0030192
3679	ITGA7	Poor suck	HP:0002033
3679	ITGA7	Flexion contracture of finger	HP:0012785
3679	ITGA7	Infantile muscular hypotonia	HP:0008947
3679	ITGA7	Mildly elevated creatine kinase	HP:0008180
3679	ITGA7	Motor delay	HP:0001270
3679	ITGA7	Ptosis	HP:0000508
3679	ITGA7	Generalized muscle weakness	HP:0003324
3679	ITGA7	Myopathy	HP:0003198
3679	ITGA7	Pectus excavatum	HP:0000767
388698	FLG2	Orthokeratosis	HP:0040162
388698	FLG2	Parakeratosis	HP:0001036
388698	FLG2	Pruritus	HP:0000989
3689	ITGB2	Periodontitis	HP:0000704
3689	ITGB2	Osteomyelitis	HP:0002754
3689	ITGB2	Poor wound healing	HP:0001058
3689	ITGB2	Leukocytosis	HP:0001974
3689	ITGB2	Gingivitis	HP:0000230
3689	ITGB2	Autosomal recessive inheritance	HP:0000007
3689	ITGB2	Rectal abscess	HP:0005224
3689	ITGB2	Skin ulcer	HP:0200042
3689	ITGB2	Recurrent staphylococcal infections	HP:0007499
3689	ITGB2	Recurrent gram-negative bacterial infections	HP:0005420
3689	ITGB2	Recurrent bacterial infections	HP:0002718
3690	ITGB3	Prolonged bleeding time	HP:0003010
3690	ITGB3	Menorrhagia	HP:0000132
3690	ITGB3	Ecchymosis	HP:0031364
3690	ITGB3	Autosomal dominant inheritance	HP:0000006
3690	ITGB3	Petechiae	HP:0000967
3690	ITGB3	Autosomal recessive inheritance	HP:0000007
3690	ITGB3	Menometrorrhagia	HP:0400008
3690	ITGB3	Bruising susceptibility	HP:0000978
3690	ITGB3	Purpura	HP:0000979
3690	ITGB3	Impaired platelet aggregation	HP:0003540
3690	ITGB3	Impaired clot retraction	HP:0031126
3690	ITGB3	Impaired ristocetin-induced platelet aggregation	HP:0011871
3690	ITGB3	Gingival bleeding	HP:0000225
3690	ITGB3	Epistaxis	HP:0000421
3690	ITGB3	Macroscopic hematuria	HP:0012587
3690	ITGB3	Giant platelets	HP:0001902
3690	ITGB3	Prolonged bleeding after surgery	HP:0004846
3690	ITGB3	Anemia	HP:0001903
3690	ITGB3	Spontaneous, recurrent epistaxis	HP:0004406
3690	ITGB3	Decreased platelet glycoprotein IIb-IIIa	HP:0001975
3690	ITGB3	Macrothrombocytopenia	HP:0040185
3690	ITGB3	Prolonged bleeding following circumcision	HP:0030137
3690	ITGB3	Intracranial hemorrhage	HP:0002170
3690	ITGB3	Spontaneous hematomas	HP:0007420
3690	ITGB3	Gastrointestinal hemorrhage	HP:0002239
3691	ITGB4	Plantar hyperkeratosis	HP:0007556
3691	ITGB4	Anonychia	HP:0001798
3691	ITGB4	Fragile skin	HP:0001030
3691	ITGB4	Autosomal dominant inheritance	HP:0000006
3691	ITGB4	Autosomal recessive inheritance	HP:0000007
3691	ITGB4	Camptodactyly of finger	HP:0100490
3691	ITGB4	Junctional split	HP:0003341
3691	ITGB4	Fragile nails	HP:0001808
3691	ITGB4	Ectropion	HP:0000656
3691	ITGB4	Heterogeneous	HP:0001425
3691	ITGB4	Abnormality of the stomach	HP:0002577
3691	ITGB4	Palmoplantar blistering	HP:0007446
3691	ITGB4	Hematuria	HP:0000790
3691	ITGB4	Dehydration	HP:0001944
3691	ITGB4	Hypoplasia of dental enamel	HP:0006297
3691	ITGB4	Polyhydramnios	HP:0001561
3691	ITGB4	Hypodontia	HP:0000668
3691	ITGB4	Carious teeth	HP:0000670
3691	ITGB4	Milia	HP:0001056
3691	ITGB4	Aplasia cutis congenita	HP:0001057
3691	ITGB4	Oral mucosal blisters	HP:0200097
3691	ITGB4	Pterygium	HP:0001059
3691	ITGB4	Axillary pterygium	HP:0001060
3691	ITGB4	Recurrent skin infections	HP:0001581
3691	ITGB4	Congenital pyloric atresia	HP:0004399
3691	ITGB4	Atrophic scars	HP:0001075
3691	ITGB4	Sparse body hair	HP:0002231
3691	ITGB4	Hyperkeratosis	HP:0000962
3691	ITGB4	Urethral stricture	HP:0012227
3691	ITGB4	Ureterocele	HP:0000070
3691	ITGB4	Abdominal distention	HP:0003270
3691	ITGB4	Sepsis	HP:0100806
3691	ITGB4	Scarring alopecia of scalp	HP:0004552
3691	ITGB4	Palmar hyperhidrosis	HP:0006089
3691	ITGB4	Renal duplication	HP:0000075
3691	ITGB4	Nail dystrophy	HP:0008404
3691	ITGB4	Palmoplantar keratoderma	HP:0000982
3691	ITGB4	Premature birth	HP:0001622
3691	ITGB4	Intestinal atresia	HP:0011100
3691	ITGB4	Dysphagia	HP:0002015
3691	ITGB4	Elevated maternal serum alpha-fetoprotein	HP:0005984
3691	ITGB4	Limitation of joint mobility	HP:0001376
3691	ITGB4	Glomerulosclerosis	HP:0000096
3691	ITGB4	Urinary bladder inflammation	HP:0100577
3691	ITGB4	Nausea and vomiting	HP:0002017
3691	ITGB4	Failure to thrive	HP:0001508
3691	ITGB4	Growth delay	HP:0001510
3691	ITGB4	Abnormality of skin pigmentation	HP:0001000
3691	ITGB4	Skin erosion	HP:0200041
3691	ITGB4	Aplasia of the bladder	HP:0010477
3691	ITGB4	Renal dysplasia	HP:0000110
3691	ITGB4	Anemia	HP:0001903
3691	ITGB4	Esophageal atresia	HP:0002032
3691	ITGB4	Death in infancy	HP:0001522
3691	ITGB4	Nail dysplasia	HP:0002164
3691	ITGB4	Arthrogryposis multiplex congenita	HP:0002804
3691	ITGB4	Abnormality of the genitourinary system	HP:0000119
3691	ITGB4	Congenital onset	HP:0003577
3691	ITGB4	Intractable diarrhea	HP:0002041
3691	ITGB4	Hydronephrosis	HP:0000126
3694	ITGB6	Ichthyosis	HP:0008064
3694	ITGB6	Amelogenesis imperfecta	HP:0000705
3694	ITGB6	Brachydactyly	HP:0001156
3694	ITGB6	Autosomal recessive inheritance	HP:0000007
3694	ITGB6	Anterior open-bite malocclusion	HP:0009102
3694	ITGB6	Yellow-brown discoloration of the teeth	HP:0006286
3694	ITGB6	Short corpus callosum	HP:0200012
3694	ITGB6	Macrotia	HP:0000400
3694	ITGB6	Split hand	HP:0001171
3694	ITGB6	Hypoplasia of dental enamel	HP:0006297
3694	ITGB6	Scoliosis	HP:0002650
3694	ITGB6	Flexion contracture	HP:0001371
3694	ITGB6	Anterior open bite	HP:0200095
3694	ITGB6	Sparse scalp hair	HP:0002209
3694	ITGB6	Intellectual disability	HP:0001249
3694	ITGB6	Short stature	HP:0004322
3694	ITGB6	Seizures	HP:0001250
3694	ITGB6	Muscular hypotonia	HP:0001252
3694	ITGB6	Photophobia	HP:0000613
3694	ITGB6	Aplasia/Hypoplasia of the eyebrow	HP:0100840
3694	ITGB6	Hearing impairment	HP:0000365
3694	ITGB6	Hypergonadotropic hypogonadism	HP:0000815
3694	ITGB6	EEG abnormality	HP:0002353
3694	ITGB6	Abnormal nasal morphology	HP:0005105
3694	ITGB6	Sparse body hair	HP:0002231
3694	ITGB6	Dental enamel pits	HP:0009722
3694	ITGB6	Microcephaly	HP:0000252
3694	ITGB6	Alopecia	HP:0001596
3694	ITGB6	Delayed skeletal maturation	HP:0002750
3702	ITK	Hepatomegaly	HP:0002240
3702	ITK	Recurrent aphthous stomatitis	HP:0011107
3702	ITK	Juvenile onset	HP:0003621
3702	ITK	Autosomal recessive inheritance	HP:0000007
3702	ITK	Stomatitis	HP:0010280
3702	ITK	Lymphoma	HP:0002665
3702	ITK	Elevated erythrocyte sedimentation rate	HP:0003565
3702	ITK	Anemia	HP:0001903
3702	ITK	Splenomegaly	HP:0001744
3702	ITK	Autoimmunity	HP:0002960
3702	ITK	Thrombocytopenia	HP:0001873
3702	ITK	Pancytopenia	HP:0001876
3702	ITK	Decreased circulating IgG level	HP:0004315
3702	ITK	Lymphadenopathy	HP:0002716
3702	ITK	Recurrent infections	HP:0002719
3703	STT3A	Feeding difficulties	HP:0011968
3703	STT3A	Intellectual disability	HP:0001249
3703	STT3A	Seizures	HP:0001250
3703	STT3A	Failure to thrive	HP:0001508
3703	STT3A	Autosomal recessive inheritance	HP:0000007
3703	STT3A	Generalized hypotonia	HP:0001290
3703	STT3A	Scrotal hypoplasia	HP:0000046
3703	STT3A	Global developmental delay	HP:0001263
3703	STT3A	Micropenis	HP:0000054
3703	STT3A	Cerebellar atrophy	HP:0001272
3703	STT3A	Abnormal glycosylation	HP:0012345
3703	STT3A	Congenital onset	HP:0003577
3703	STT3A	Microcephaly	HP:0000252
3703	STT3A	Impaired smooth pursuit	HP:0007772
3703	STT3A	Cryptorchidism	HP:0000028
3704	ITPA	Feeding difficulties	HP:0011968
3704	ITPA	Irritability	HP:0000737
3704	ITPA	Cataract	HP:0000518
3704	ITPA	Cardiomyopathy	HP:0001638
3704	ITPA	Autosomal recessive inheritance	HP:0000007
3704	ITPA	Intrauterine growth retardation	HP:0001511
3704	ITPA	Infantile onset	HP:0003593
3704	ITPA	Cerebral atrophy	HP:0002059
3704	ITPA	Delayed CNS myelination	HP:0002188
3704	ITPA	Severe muscular hypotonia	HP:0006829
3704	ITPA	Global developmental delay	HP:0001263
3704	ITPA	Encephalopathy	HP:0001298
3704	ITPA	Death in infancy	HP:0001522
3704	ITPA	High pitched voice	HP:0001620
3704	ITPA	Status epilepticus	HP:0002133
3704	ITPA	Limb tremor	HP:0200085
3704	ITPA	Microcephaly	HP:0000252
3704	ITPA	Brain atrophy	HP:0012444
3708	ITPR1	Dysmetric saccades	HP:0000641
3708	ITPR1	Autosomal dominant inheritance	HP:0000006
3708	ITPR1	Autosomal recessive inheritance	HP:0000007
3708	ITPR1	Generalized hypotonia	HP:0001290
3708	ITPR1	Aniridia	HP:0000526
3708	ITPR1	Oculomotor apraxia	HP:0000657
3708	ITPR1	Delayed gross motor development	HP:0002194
3708	ITPR1	Delayed social development	HP:0012434
3708	ITPR1	Gait ataxia	HP:0002066
3708	ITPR1	Limb ataxia	HP:0002070
3708	ITPR1	Dysdiadochokinesis	HP:0002075
3708	ITPR1	Dysmetria	HP:0001310
3708	ITPR1	Truncal ataxia	HP:0002078
3708	ITPR1	Agenesis of cerebellar vermis	HP:0002335
3708	ITPR1	Intention tremor	HP:0002080
3708	ITPR1	Juvenile onset	HP:0003621
3708	ITPR1	Nonprogressive cerebellar ataxia	HP:0002470
3708	ITPR1	Cerebellar hypoplasia	HP:0001321
3708	ITPR1	Head tremor	HP:0002346
3708	ITPR1	Mask-like facies	HP:0000298
3708	ITPR1	Gaze-evoked horizontal nystagmus	HP:0007979
3708	ITPR1	Upper limb postural tremor	HP:0007351
3708	ITPR1	Abnormality of movement	HP:0100022
3708	ITPR1	Abnormal saccadic eye movements	HP:0000570
3708	ITPR1	Visual fixation instability	HP:0025405
3708	ITPR1	Cognitive impairment	HP:0100543
3708	ITPR1	Abnormality of the pulmonary artery	HP:0004414
3708	ITPR1	Hyperreflexia	HP:0001347
3708	ITPR1	Slurred speech	HP:0001350
3708	ITPR1	Cerebellar vermis atrophy	HP:0006855
3708	ITPR1	Broad-based gait	HP:0002136
3708	ITPR1	Impaired smooth pursuit	HP:0007772
3708	ITPR1	Slow progression	HP:0003677
3708	ITPR1	Intellectual disability	HP:0001249
3708	ITPR1	Ataxia	HP:0001251
3708	ITPR1	Muscular hypotonia	HP:0001252
3708	ITPR1	Dysarthria	HP:0001260
3708	ITPR1	Hearing abnormality	HP:0000364
3708	ITPR1	Delayed fine motor development	HP:0010862
3708	ITPR1	Delayed speech and language development	HP:0000750
3708	ITPR1	Global developmental delay	HP:0001263
3708	ITPR1	Motor delay	HP:0001270
3708	ITPR1	Cerebellar atrophy	HP:0001272
3708	ITPR1	Scanning speech	HP:0002168
3708	ITPR1	Visual impairment	HP:0000505
3708	ITPR1	Congenital onset	HP:0003577
3708	ITPR1	Hypoplasia of the iris	HP:0007676
3708	ITPR1	Adult onset	HP:0003581
3708	ITPR1	Postural tremor	HP:0002174
3708	ITPR1	Nystagmus	HP:0000639
3709	ITPR2	Generalized anhidrosis	HP:0007459
3709	ITPR2	Autosomal recessive inheritance	HP:0000007
3709	ITPR2	Anhidrosis	HP:0000970
3709	ITPR2	Heat intolerance	HP:0002046
3712	IVD	Seizures	HP:0001250
3712	IVD	Hyperglycinuria	HP:0003108
3712	IVD	Lethargy	HP:0001254
3712	IVD	Autosomal recessive inheritance	HP:0000007
3712	IVD	Ketoacidosis	HP:0001993
3712	IVD	Coma	HP:0001259
3712	IVD	Global developmental delay	HP:0001263
3712	IVD	Cerebellar hemorrhage	HP:0011695
3712	IVD	Thrombocytopenia	HP:0001873
3712	IVD	Pancytopenia	HP:0001876
3712	IVD	Metabolic acidosis	HP:0001942
3712	IVD	Bone marrow hypocellularity	HP:0005528
3712	IVD	Dehydration	HP:0001944
3712	IVD	Leukopenia	HP:0001882
3712	IVD	Vomiting	HP:0002013
3717	JAK2	Portal hypertension	HP:0001409
3717	JAK2	Chronic myelogenous leukemia	HP:0005506
3717	JAK2	Ascites	HP:0001541
3717	JAK2	Autosomal dominant inheritance	HP:0000006
3717	JAK2	Increased megakaryocyte count	HP:0005513
3717	JAK2	Headache	HP:0002315
3717	JAK2	Chest pain	HP:0100749
3717	JAK2	Arthralgia	HP:0002829
3717	JAK2	Vertigo	HP:0002321
3717	JAK2	Angina pectoris	HP:0001681
3717	JAK2	Stroke	HP:0001297
3717	JAK2	Somatic mutation	HP:0001428
3717	JAK2	Spontaneous abortion	HP:0005268
3717	JAK2	Transient ischemic attack	HP:0002326
3717	JAK2	Fever	HP:0001945
3717	JAK2	Acute hepatic failure	HP:0006554
3717	JAK2	Peritonitis	HP:0002586
3717	JAK2	Plethora	HP:0001050
3717	JAK2	Pulmonary embolism	HP:0002204
3717	JAK2	Weight loss	HP:0001824
3717	JAK2	Sporadic	HP:0003745
3717	JAK2	Portal vein thrombosis	HP:0030242
3717	JAK2	Epistaxis	HP:0000421
3717	JAK2	Myeloproliferative disorder	HP:0005547
3717	JAK2	Pulmonary arterial hypertension	HP:0002092
3717	JAK2	Respiratory insufficiency	HP:0002093
3717	JAK2	Myelodysplasia	HP:0002863
3717	JAK2	Leukocytosis	HP:0001974
3717	JAK2	Hypertension	HP:0000822
3717	JAK2	Acute leukemia	HP:0002488
3717	JAK2	Jaundice	HP:0000952
3717	JAK2	Abnormal thrombosis	HP:0001977
3717	JAK2	Cholecystitis	HP:0001082
3717	JAK2	Exertional dyspnea	HP:0002875
3717	JAK2	Cerebral hemorrhage	HP:0001342
3717	JAK2	Gastrointestinal hemorrhage	HP:0002239
3717	JAK2	Hepatomegaly	HP:0002240
3717	JAK2	Intermittent claudication	HP:0004417
3717	JAK2	Prolonged bleeding time	HP:0003010
3717	JAK2	Arterial thrombosis	HP:0004420
3717	JAK2	Myelofibrosis	HP:0011974
3717	JAK2	Venous thrombosis	HP:0004936
3717	JAK2	Acute myeloid leukemia	HP:0004808
3717	JAK2	Paresthesia	HP:0003401
3717	JAK2	Cerebral ischemia	HP:0002637
3717	JAK2	Budd-Chiari syndrome	HP:0002639
3717	JAK2	Hyperhidrosis	HP:0000975
3717	JAK2	Splenomegaly	HP:0001744
3717	JAK2	Thrombocytopenia	HP:0001873
3717	JAK2	Peripheral thrombosis	HP:0002641
3717	JAK2	Bruising susceptibility	HP:0000978
3717	JAK2	Purpura	HP:0000979
3717	JAK2	Pallor	HP:0000980
3717	JAK2	Peripheral arterial stenosis	HP:0004950
3717	JAK2	Fatigue	HP:0012378
3717	JAK2	Pruritus	HP:0000989
3717	JAK2	Intestinal obstruction	HP:0005214
3717	JAK2	Elevated hepatic transaminase	HP:0002910
3717	JAK2	Amaurosis fugax	HP:0100576
3717	JAK2	Gingival bleeding	HP:0000225
3717	JAK2	Seizures	HP:0001250
3717	JAK2	Abnormal platelet morphology	HP:0011875
3717	JAK2	Visual field defect	HP:0001123
3717	JAK2	Abnormal bleeding	HP:0001892
3717	JAK2	Thrombocytosis	HP:0001894
3717	JAK2	Malabsorption	HP:0002024
3717	JAK2	Tinnitus	HP:0000360
3717	JAK2	Increased red blood cell mass	HP:0001898
3717	JAK2	Increased hematocrit	HP:0001899
3717	JAK2	Abdominal pain	HP:0002027
3717	JAK2	Increased hemoglobin	HP:0001900
3717	JAK2	Dysarthria	HP:0001260
3717	JAK2	Cirrhosis	HP:0001394
3717	JAK2	Thromboembolism	HP:0001907
3717	JAK2	Esophageal varix	HP:0002040
3717	JAK2	Myocardial infarction	HP:0001658
3717	JAK2	Gastrointestinal infarctions	HP:0005244
3717	JAK2	Syncope	HP:0001279
3718	JAK3	Panhypogammaglobulinemia	HP:0003139
3718	JAK3	Failure to thrive	HP:0001508
3718	JAK3	Recurrent upper respiratory tract infections	HP:0002788
3718	JAK3	Cutaneous anergy	HP:0002965
3718	JAK3	Autosomal recessive inheritance	HP:0000007
3718	JAK3	Meningitis	HP:0001287
3718	JAK3	Pneumonia	HP:0002090
3718	JAK3	Abnormality of the lymph nodes	HP:0002733
3718	JAK3	Diarrhea	HP:0002014
3718	JAK3	Severe combined immunodeficiency	HP:0004430
3718	JAK3	Intestinal obstruction	HP:0005214
3728	JUP	Right bundle branch block	HP:0011712
3728	JUP	Epidermal acanthosis	HP:0025092
3728	JUP	Fragile skin	HP:0001030
3728	JUP	Autosomal dominant inheritance	HP:0000006
3728	JUP	Anonychia	HP:0001798
3728	JUP	Autosomal recessive inheritance	HP:0000007
3728	JUP	Cleft upper lip	HP:0000204
3728	JUP	Onycholysis	HP:0001806
3728	JUP	Right ventricular cardiomyopathy	HP:0011663
3728	JUP	Paroxysmal ventricular tachycardia	HP:0004751
3728	JUP	Hyperhidrosis	HP:0000975
3728	JUP	Heterogeneous	HP:0001425
3728	JUP	Vertigo	HP:0002321
3728	JUP	Nail dystrophy	HP:0008404
3728	JUP	Ventricular arrhythmia	HP:0004308
3728	JUP	Ventricular tachycardia	HP:0004756
3728	JUP	Prolonged QRS complex	HP:0006677
3728	JUP	Palmoplantar keratoderma	HP:0000982
3728	JUP	Sparse and thin eyebrow	HP:0000535
3728	JUP	Abnormal morphology of right ventricular trabeculae	HP:0031193
3728	JUP	Ventricular extrasystoles	HP:0006682
3728	JUP	Sparse scalp hair	HP:0002209
3728	JUP	Oral mucosal blisters	HP:0200097
3728	JUP	Sudden death	HP:0001699
3728	JUP	Congestive heart failure	HP:0001635
3728	JUP	Curly hair	HP:0002212
3728	JUP	Cardiomyopathy	HP:0001638
3728	JUP	Cardiomegaly	HP:0001640
3728	JUP	Palpitations	HP:0001962
3728	JUP	Skin erosion	HP:0200041
3728	JUP	Dilated cardiomyopathy	HP:0001644
3728	JUP	Sudden cardiac death	HP:0001645
3728	JUP	Woolly hair	HP:0002224
3728	JUP	Natal tooth	HP:0000695
3728	JUP	Esophageal ulceration	HP:0004791
3728	JUP	T-wave inversion	HP:0010872
3728	JUP	Acantholysis	HP:0100792
3728	JUP	Alopecia	HP:0001596
3728	JUP	Acanthosis nigricans	HP:0000956
3728	JUP	Syncope	HP:0001279
3730	ANOS1	Ichthyosis	HP:0008064
3730	ANOS1	Abnormality of body height	HP:0000002
3730	ANOS1	Gynecomastia	HP:0000771
3730	ANOS1	Decreased circulating follicle stimulating hormone level	HP:0030341
3730	ANOS1	Absence of pubertal development	HP:0008197
3730	ANOS1	Female hypogonadism	HP:0000134
3730	ANOS1	Decreased circulating luteinizing hormone level	HP:0030344
3730	ANOS1	Gait disturbance	HP:0001288
3730	ANOS1	X-linked inheritance	HP:0001417
3730	ANOS1	X-linked recessive inheritance	HP:0001419
3730	ANOS1	Hypoplasia of the uterus	HP:0000013
3730	ANOS1	Decreased fertility	HP:0000144
3730	ANOS1	Primary amenorrhea	HP:0000786
3730	ANOS1	Hypoplasia of the ovary	HP:0008724
3730	ANOS1	Sensorineural hearing impairment	HP:0000407
3730	ANOS1	Male hypogonadism	HP:0000026
3730	ANOS1	Azoospermia	HP:0000027
3730	ANOS1	Cryptorchidism	HP:0000028
3730	ANOS1	Testicular atrophy	HP:0000029
3730	ANOS1	Decreased testicular size	HP:0008734
3730	ANOS1	Erectile abnormalities	HP:0100639
3730	ANOS1	Depressed nasal bridge	HP:0005280
3730	ANOS1	Impotence	HP:0000802
3730	ANOS1	Abnormality of the dentition	HP:0000164
3730	ANOS1	Color vision defect	HP:0000551
3730	ANOS1	Osteopenia	HP:0000938
3730	ANOS1	Osteoporosis	HP:0000939
3730	ANOS1	Hypogonadotrophic hypogonadism	HP:0000044
3730	ANOS1	Muscle weakness	HP:0001324
3730	ANOS1	Cleft palate	HP:0000175
3730	ANOS1	Sparse pubic hair	HP:0002225
3730	ANOS1	Micropenis	HP:0000054
3730	ANOS1	Paraplegia	HP:0010550
3730	ANOS1	Bimanual synkinesia	HP:0001335
3730	ANOS1	Delayed puberty	HP:0000823
3730	ANOS1	Sparse body hair	HP:0002231
3730	ANOS1	Tremor	HP:0001337
3730	ANOS1	Hyposmia	HP:0004409
3730	ANOS1	Non-obstructive azoospermia	HP:0011961
3730	ANOS1	Hypertelorism	HP:0000316
3730	ANOS1	Olfactory lobe agenesis	HP:0001341
3730	ANOS1	Delayed skeletal maturation	HP:0002750
3730	ANOS1	Anterior hypopituitarism	HP:0000830
3730	ANOS1	Dyspareunia	HP:0030016
3730	ANOS1	Increased female libido	HP:0030019
3730	ANOS1	Facial asymmetry	HP:0000324
3730	ANOS1	Recurrent fractures	HP:0002757
3730	ANOS1	Eunuchoid habitus	HP:0003782
3730	ANOS1	Abnormality of the voice	HP:0001608
3730	ANOS1	Generalized joint laxity	HP:0002761
3730	ANOS1	Anosmia	HP:0000458
3730	ANOS1	Reduced number of teeth	HP:0009804
3730	ANOS1	Depressivity	HP:0000716
3730	ANOS1	Congenital sensorineural hearing impairment	HP:0008527
3730	ANOS1	Wide intermamillary distance	HP:0006610
3730	ANOS1	Abnormality of cardiovascular system morphology	HP:0030680
3730	ANOS1	High palate	HP:0000218
3730	ANOS1	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
3730	ANOS1	Skeletal dysplasia	HP:0002652
3730	ANOS1	Pes cavus	HP:0001761
3730	ANOS1	Camptodactyly	HP:0012385
3730	ANOS1	Seizures	HP:0001250
3730	ANOS1	Ataxia	HP:0001251
3730	ANOS1	Pes planus	HP:0001763
3730	ANOS1	Anxiety	HP:0000739
3730	ANOS1	Muscular hypotonia	HP:0001252
3730	ANOS1	Secondary amenorrhea	HP:0000869
3730	ANOS1	Renal agenesis	HP:0000104
3730	ANOS1	Obesity	HP:0001513
3730	ANOS1	Decreased serum testosterone level	HP:0040171
3730	ANOS1	Dysarthria	HP:0001260
3730	ANOS1	Leydig cell insensitivity to gonadotropin	HP:0002929
3730	ANOS1	Breast hypoplasia	HP:0003187
3730	ANOS1	Visual impairment	HP:0000505
3730	ANOS1	Unilateral renal agenesis	HP:0000122
3730	ANOS1	Absence of secondary sex characteristics	HP:0008187
3730	ANOS1	Ptosis	HP:0000508
3730	ANOS1	Reduced bone mineral density	HP:0004349
3730	ANOS1	Nystagmus	HP:0000639
388753	COA6	Muscular hypotonia	HP:0001252
388753	COA6	Hypertrophic cardiomyopathy	HP:0001639
388753	COA6	Autosomal recessive inheritance	HP:0000007
388753	COA6	Lactic acidosis	HP:0003128
388753	COA6	Left ventricular noncompaction	HP:0030682
388753	COA6	Short chin	HP:0000331
151188	ARL6IP6	Arterial stenosis	HP:0100545
151188	ARL6IP6	Abnormality of the upper limb	HP:0002817
151188	ARL6IP6	Aplasia/Hypoplasia of the skin	HP:0008065
151188	ARL6IP6	Multicystic kidney dysplasia	HP:0000003
151188	ARL6IP6	Cutis marmorata	HP:0000965
151188	ARL6IP6	Ascites	HP:0001541
151188	ARL6IP6	Oral cleft	HP:0000202
151188	ARL6IP6	Asymmetric growth	HP:0100555
151188	ARL6IP6	Multiple cafe-au-lait spots	HP:0007565
151188	ARL6IP6	Blue nevus	HP:0100814
151188	ARL6IP6	Displacement of the urethral meatus	HP:0100627
151188	ARL6IP6	Purpura	HP:0000979
151188	ARL6IP6	Finger syndactyly	HP:0006101
151188	ARL6IP6	Scoliosis	HP:0002650
151188	ARL6IP6	Micrognathia	HP:0000347
151188	ARL6IP6	Retinal detachment	HP:0000541
151188	ARL6IP6	Seizures	HP:0001250
151188	ARL6IP6	Intrauterine growth retardation	HP:0001511
151188	ARL6IP6	Telangiectasia of the skin	HP:0100585
151188	ARL6IP6	Skin erosion	HP:0200041
151188	ARL6IP6	Toe syndactyly	HP:0001770
151188	ARL6IP6	Leukocoria	HP:0000555
151188	ARL6IP6	Patent ductus arteriosus	HP:0001643
151188	ARL6IP6	Short lower limbs	HP:0006385
151188	ARL6IP6	Hypothyroidism	HP:0000821
151188	ARL6IP6	Capillary hemangioma	HP:0005306
151188	ARL6IP6	Arteriovenous malformation	HP:0100026
151188	ARL6IP6	Reduced bone mineral density	HP:0004349
151188	ARL6IP6	Cognitive impairment	HP:0100543
3735	KARS	Steppage gait	HP:0003376
3735	KARS	Pes cavus	HP:0001761
3735	KARS	Hyporeflexia	HP:0001265
3735	KARS	Foot dorsiflexor weakness	HP:0009027
3735	KARS	Areflexia	HP:0001284
3735	KARS	Vestibular Schwannoma	HP:0009588
3735	KARS	Autosomal recessive inheritance	HP:0000007
3735	KARS	Distal sensory impairment	HP:0002936
3735	KARS	Hearing impairment	HP:0000365
3735	KARS	Global developmental delay	HP:0001263
3736	KCNA1	Athetosis	HP:0002305
3736	KCNA1	EMG abnormality	HP:0003457
3736	KCNA1	Abnormality of the hand	HP:0001155
3736	KCNA1	Autosomal dominant inheritance	HP:0000006
3736	KCNA1	Incoordination	HP:0002311
3736	KCNA1	Clumsiness	HP:0002312
3736	KCNA1	Congenital diaphragmatic hernia	HP:0000776
3736	KCNA1	Headache	HP:0002315
3736	KCNA1	Diplopia	HP:0000651
3736	KCNA1	Spastic gait	HP:0002064
3736	KCNA1	Vertigo	HP:0002321
3736	KCNA1	Focal sensory seizure	HP:0011157
3736	KCNA1	Calf muscle hypertrophy	HP:0008981
3736	KCNA1	Chorea	HP:0002072
3736	KCNA1	Migraine	HP:0002076
3736	KCNA1	Babinski sign	HP:0003487
3736	KCNA1	Hand clenching	HP:0001188
3736	KCNA1	Elevated serum creatine kinase	HP:0003236
3736	KCNA1	Juvenile onset	HP:0003621
3736	KCNA1	Specific learning disability	HP:0001328
3736	KCNA1	Respiratory distress	HP:0002098
3736	KCNA1	Writer's cramp	HP:0002356
3736	KCNA1	Dyskinesia	HP:0100660
3736	KCNA1	Myotonia	HP:0002486
3736	KCNA1	Tremor	HP:0001337
3736	KCNA1	Kyphoscoliosis	HP:0002751
3736	KCNA1	Muscle spasm	HP:0003394
3736	KCNA1	Poor coordination	HP:0002370
3736	KCNA1	Hyperreflexia	HP:0001347
3736	KCNA1	Slurred speech	HP:0001350
3736	KCNA1	Hyperhidrosis	HP:0000975
3736	KCNA1	Episodic ataxia	HP:0002131
3736	KCNA1	Craniofacial disproportion	HP:0005461
3736	KCNA1	Type 1 muscle fiber predominance	HP:0003803
3736	KCNA1	Muscle stiffness	HP:0003552
3736	KCNA1	Nausea	HP:0002018
3736	KCNA1	Seizures	HP:0001250
3736	KCNA1	Tip-toe gait	HP:0030051
3736	KCNA1	Ataxia	HP:0001251
3736	KCNA1	Myokymia	HP:0002411
3736	KCNA1	Dysarthria	HP:0001260
3736	KCNA1	Blurred vision	HP:0000622
3736	KCNA1	Delayed speech and language development	HP:0000750
3736	KCNA1	Choreoathetosis	HP:0001266
3736	KCNA1	Variable expressivity	HP:0003828
3736	KCNA1	Motor delay	HP:0001270
3736	KCNA1	Cerebellar atrophy	HP:0001272
3736	KCNA1	Hypertonia	HP:0001276
3736	KCNA1	Postural instability	HP:0002172
3737	KCNA2	Feeding difficulties	HP:0011968
3737	KCNA2	Absent speech	HP:0001344
3737	KCNA2	Epileptic encephalopathy	HP:0200134
3737	KCNA2	Autosomal dominant inheritance	HP:0000006
3737	KCNA2	Optic atrophy	HP:0000648
3737	KCNA2	Developmental regression	HP:0002376
3737	KCNA2	Infantile onset	HP:0003593
3737	KCNA2	Generalized hypotonia	HP:0001290
3737	KCNA2	Cerebral atrophy	HP:0002059
3737	KCNA2	Limb hypertonia	HP:0002509
3737	KCNA2	Autism	HP:0000717
3737	KCNA2	Unsteady gait	HP:0002317
3737	KCNA2	Rigidity	HP:0002063
3737	KCNA2	Encephalopathy	HP:0001298
3737	KCNA2	Status epilepticus	HP:0002133
3737	KCNA2	Decreased fetal movement	HP:0001558
3737	KCNA2	Hypsarrhythmia	HP:0002521
3737	KCNA2	High forehead	HP:0000348
3737	KCNA2	EEG with multifocal slow activity	HP:0010844
3737	KCNA2	Hypodontia	HP:0000668
3737	KCNA2	Abnormal myelination	HP:0012447
3737	KCNA2	Intellectual disability	HP:0001249
3737	KCNA2	Short stature	HP:0004322
3737	KCNA2	Retinal degeneration	HP:0000546
3737	KCNA2	Seizures	HP:0001250
3737	KCNA2	Ataxia	HP:0001251
3737	KCNA2	Gastroesophageal reflux	HP:0002020
3737	KCNA2	Failure to thrive	HP:0001508
3737	KCNA2	Impulsivity	HP:0100710
3737	KCNA2	Spasticity	HP:0001257
3737	KCNA2	Attention deficit hyperactivity disorder	HP:0007018
3737	KCNA2	Downslanted palpebral fissures	HP:0000494
3737	KCNA2	Delayed speech and language development	HP:0000750
3737	KCNA2	Global developmental delay	HP:0001263
3737	KCNA2	Hyporeflexia	HP:0001265
3737	KCNA2	Difficulty walking	HP:0002355
3737	KCNA2	Mental deterioration	HP:0001268
3737	KCNA2	Poor head control	HP:0002421
3737	KCNA2	Dyskinesia	HP:0100660
3737	KCNA2	Myoclonus	HP:0001336
3737	KCNA2	Abnormality of vision	HP:0000504
3737	KCNA2	Tremor	HP:0001337
3737	KCNA2	Abnormal corpus callosum morphology	HP:0001273
3737	KCNA2	Microcephaly	HP:0000252
3737	KCNA2	Ptosis	HP:0000508
3737	KCNA2	Nystagmus	HP:0000639
3739	KCNA4	Spastic gait	HP:0002064
3739	KCNA4	Motor delay	HP:0001270
3739	KCNA4	Cogwheel rigidity	HP:0002396
3739	KCNA4	Dysarthria	HP:0001260
3739	KCNA4	Delayed speech and language development	HP:0000750
118429	ANTXR2	Macrocephaly	HP:0000256
118429	ANTXR2	Feeding difficulties	HP:0011968
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	Polycystic ovaries	HP:0000147
118429	ANTXR2	Aplasia/Hypoplasia of the thymus	HP:0010515
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	Muscular hypotonia	HP:0001252
118429	ANTXR2	Failure to thrive	HP:0001508
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	Joint stiffness	HP:0001387
118429	ANTXR2	Osteoporosis	HP:0000939
118429	ANTXR2	Abnormal diaphysis morphology	HP:0000940
118429	ANTXR2	Chronic diarrhea	HP:0002028
118429	ANTXR2	Lymphedema	HP:0001004
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	Abnormal hair morphology	HP:0001595
118429	ANTXR2	Osteomalacia	HP:0002749
3741	KCNA5	Prolonged QTc interval	HP:0005184
3741	KCNA5	Paroxysmal atrial fibrillation	HP:0004757
3741	KCNA5	Autosomal dominant inheritance	HP:0000006
3741	KCNA5	Prolonged PR interval	HP:0012248
3741	KCNA5	Palpitations	HP:0001962
3745	KCNB1	Feeding difficulties	HP:0011968
3745	KCNB1	Absent speech	HP:0001344
3745	KCNB1	Epileptic encephalopathy	HP:0200134
3745	KCNB1	Autosomal dominant inheritance	HP:0000006
3745	KCNB1	Optic atrophy	HP:0000648
3745	KCNB1	Developmental regression	HP:0002376
3745	KCNB1	Infantile onset	HP:0003593
3745	KCNB1	Generalized hypotonia	HP:0001290
3745	KCNB1	Cerebral atrophy	HP:0002059
3745	KCNB1	Limb hypertonia	HP:0002509
3745	KCNB1	Autism	HP:0000717
3745	KCNB1	Unsteady gait	HP:0002317
3745	KCNB1	Rigidity	HP:0002063
3745	KCNB1	Encephalopathy	HP:0001298
3745	KCNB1	Status epilepticus	HP:0002133
3745	KCNB1	Decreased fetal movement	HP:0001558
3745	KCNB1	Hypsarrhythmia	HP:0002521
3745	KCNB1	High forehead	HP:0000348
3745	KCNB1	EEG with multifocal slow activity	HP:0010844
3745	KCNB1	Hypodontia	HP:0000668
3745	KCNB1	Abnormal myelination	HP:0012447
3745	KCNB1	Intellectual disability	HP:0001249
3745	KCNB1	Short stature	HP:0004322
3745	KCNB1	Retinal degeneration	HP:0000546
3745	KCNB1	Seizures	HP:0001250
3745	KCNB1	Ataxia	HP:0001251
3745	KCNB1	Gastroesophageal reflux	HP:0002020
3745	KCNB1	Failure to thrive	HP:0001508
3745	KCNB1	Impulsivity	HP:0100710
3745	KCNB1	Spasticity	HP:0001257
3745	KCNB1	Attention deficit hyperactivity disorder	HP:0007018
3745	KCNB1	Downslanted palpebral fissures	HP:0000494
3745	KCNB1	Delayed speech and language development	HP:0000750
3745	KCNB1	Global developmental delay	HP:0001263
3745	KCNB1	Hyporeflexia	HP:0001265
3745	KCNB1	Difficulty walking	HP:0002355
3745	KCNB1	Mental deterioration	HP:0001268
3745	KCNB1	Poor head control	HP:0002421
3745	KCNB1	Dyskinesia	HP:0100660
3745	KCNB1	Myoclonus	HP:0001336
3745	KCNB1	Abnormality of vision	HP:0000504
3745	KCNB1	Tremor	HP:0001337
3745	KCNB1	Abnormal corpus callosum morphology	HP:0001273
3745	KCNB1	Microcephaly	HP:0000252
3745	KCNB1	Ptosis	HP:0000508
3745	KCNB1	Nystagmus	HP:0000639
3746	KCNC1	Seizures	HP:0001250
3746	KCNC1	Ataxia	HP:0001251
3746	KCNC1	Mental deterioration	HP:0001268
3746	KCNC1	Autosomal dominant inheritance	HP:0000006
3746	KCNC1	Myoclonus	HP:0001336
3746	KCNC1	Cerebellar atrophy	HP:0001272
3746	KCNC1	Tremor	HP:0001337
3746	KCNC1	Progressive	HP:0003676
3748	KCNC3	Hyperreflexia	HP:0001347
3748	KCNC3	Jerky ocular pursuit movements	HP:0008003
3748	KCNC3	Autosomal dominant inheritance	HP:0000006
3748	KCNC3	Optic atrophy	HP:0000648
3748	KCNC3	Clumsiness	HP:0002312
3748	KCNC3	Generalized hypotonia	HP:0001290
3748	KCNC3	Urinary urgency	HP:0000012
3748	KCNC3	Morphological abnormality of the pyramidal tract	HP:0002062
3748	KCNC3	Abnormal facial shape	HP:0001999
3748	KCNC3	Hyperactive deep tendon reflexes	HP:0006801
3748	KCNC3	Gait ataxia	HP:0002066
3748	KCNC3	Bradykinesia	HP:0002067
3748	KCNC3	Urinary incontinence	HP:0000020
3748	KCNC3	Limb ataxia	HP:0002070
3748	KCNC3	Difficulty running	HP:0009046
3748	KCNC3	Abnormal pyramidal sign	HP:0007256
3748	KCNC3	Progressive cerebellar ataxia	HP:0002073
3748	KCNC3	Torticollis	HP:0000473
3748	KCNC3	Slow progression	HP:0003677
3748	KCNC3	Optic disc pallor	HP:0000543
3748	KCNC3	Dysphagia	HP:0002015
3748	KCNC3	Intellectual disability	HP:0001249
3748	KCNC3	Short stature	HP:0004322
3748	KCNC3	Seizures	HP:0001250
3748	KCNC3	Muscular hypotonia	HP:0001252
3748	KCNC3	Limb dysmetria	HP:0002406
3748	KCNC3	Impaired distal vibration sensation	HP:0006886
3748	KCNC3	Intellectual disability, mild	HP:0001256
3748	KCNC3	Impaired visuospatial constructive cognition	HP:0010794
3748	KCNC3	Titubation	HP:0030187
3748	KCNC3	Dysarthria	HP:0001260
3748	KCNC3	Hearing impairment	HP:0000365
3748	KCNC3	Global developmental delay	HP:0001263
3748	KCNC3	Difficulty walking	HP:0002355
3748	KCNC3	Upgaze palsy	HP:0025331
3748	KCNC3	Motor delay	HP:0001270
3748	KCNC3	Cerebellar atrophy	HP:0001272
3748	KCNC3	Myoclonus	HP:0001336
3748	KCNC3	Postural instability	HP:0002172
3748	KCNC3	Nystagmus	HP:0000639
3752	KCND3	Poor coordination	HP:0002370
3752	KCND3	Hyperreflexia	HP:0001347
3752	KCND3	Autosomal dominant inheritance	HP:0000006
3752	KCND3	Slurred speech	HP:0001350
3752	KCND3	Intermittent microsaccadic pursuits	HP:0007944
3752	KCND3	Diplopia	HP:0000651
3752	KCND3	Gait ataxia	HP:0002066
3752	KCND3	Urinary incontinence	HP:0000020
3752	KCND3	Limb ataxia	HP:0002070
3752	KCND3	Broad-based gait	HP:0002136
3752	KCND3	Progressive cerebellar ataxia	HP:0002073
3752	KCND3	Impaired vibration sensation at ankles	HP:0006938
3752	KCND3	Ophthalmoplegia	HP:0000602
3752	KCND3	ST segment elevation	HP:0012251
3752	KCND3	Impaired smooth pursuit	HP:0007772
3752	KCND3	Cogwheel rigidity	HP:0002396
3752	KCND3	Slow progression	HP:0003677
3752	KCND3	Truncal ataxia	HP:0002078
3752	KCND3	Dysphagia	HP:0002015
3752	KCND3	Presyncope	HP:0031972
3752	KCND3	Palpitations	HP:0001962
3752	KCND3	Gaze-evoked horizontal nystagmus	HP:0007979
3752	KCND3	Dysarthria	HP:0001260
3752	KCND3	Hyporeflexia	HP:0001265
3752	KCND3	Difficulty walking	HP:0002355
3752	KCND3	Cerebellar atrophy	HP:0001272
3752	KCND3	Myoclonus	HP:0001336
3752	KCND3	Postural instability	HP:0002172
3752	KCND3	Postural tremor	HP:0002174
3752	KCND3	Cognitive impairment	HP:0100543
3752	KCND3	Nystagmus	HP:0000639
3753	KCNE1	Torsade de pointes	HP:0001664
3753	KCNE1	Heterogeneous	HP:0001425
3753	KCNE1	Autosomal dominant inheritance	HP:0000006
3753	KCNE1	Autosomal recessive inheritance	HP:0000007
3753	KCNE1	Prolonged QT interval	HP:0001657
3753	KCNE1	Sudden cardiac death	HP:0001645
3753	KCNE1	Congenital sensorineural hearing impairment	HP:0008527
3753	KCNE1	Syncope	HP:0001279
3753	KCNE1	Ventricular fibrillation	HP:0001663
3756	KCNH1	Small nail	HP:0001792
3756	KCNH1	Umbilical hernia	HP:0001537
3756	KCNH1	Autosomal dominant inheritance	HP:0000006
3756	KCNH1	Cataract	HP:0000518
3756	KCNH1	Autosomal recessive inheritance	HP:0000007
3756	KCNH1	Hypoplastic thumbnail	HP:0012553
3756	KCNH1	Infantile onset	HP:0003593
3756	KCNH1	Myopathic facies	HP:0002058
3756	KCNH1	Generalized hypotonia	HP:0001290
3756	KCNH1	Absent nail of hallux	HP:0012555
3756	KCNH1	Hypoplastic fingernail	HP:0001804
3756	KCNH1	Anterior open-bite malocclusion	HP:0009102
3756	KCNH1	Long eyelashes	HP:0000527
3756	KCNH1	Generalized hyperpigmentation	HP:0007440
3756	KCNH1	Nephrolithiasis	HP:0000787
3756	KCNH1	Sensorineural hearing impairment	HP:0000407
3756	KCNH1	Coarse facial features	HP:0000280
3756	KCNH1	Synophrys	HP:0000664
3756	KCNH1	Absent fingernail	HP:0001817
3756	KCNH1	Downturned corners of mouth	HP:0002714
3756	KCNH1	Wide mouth	HP:0000154
3756	KCNH1	Short distal phalanx of finger	HP:0009882
3756	KCNH1	Hypodontia	HP:0000668
3756	KCNH1	Adducted thumb	HP:0001181
3756	KCNH1	Epicanthus	HP:0000286
3756	KCNH1	Macroglossia	HP:0000158
3756	KCNH1	Bulbous nose	HP:0000414
3756	KCNH1	Hallux valgus	HP:0001822
3756	KCNH1	Depressed nasal bridge	HP:0005280
3756	KCNH1	Myopia	HP:0000545
3756	KCNH1	Hyperextensibility of the finger joints	HP:0001187
3756	KCNH1	Thickened ears	HP:0009894
3756	KCNH1	Broad thumb	HP:0011304
3756	KCNH1	Long penis	HP:0000040
3756	KCNH1	Gingival fibromatosis	HP:0000169
3756	KCNH1	Abnormal external genitalia	HP:0000811
3756	KCNH1	Facial hypertrichosis	HP:0002219
3756	KCNH1	Delayed eruption of teeth	HP:0000684
3756	KCNH1	Wide nasal bridge	HP:0000431
3756	KCNH1	Mandibular prognathia	HP:0000303
3756	KCNH1	Deep palmar crease	HP:0006191
3756	KCNH1	Cleft palate	HP:0000175
3756	KCNH1	Thick lower lip vermilion	HP:0000179
3756	KCNH1	Thick vermilion border	HP:0012471
3756	KCNH1	Aortic root aneurysm	HP:0002616
3756	KCNH1	Hypertelorism	HP:0000316
3756	KCNH1	Wide nose	HP:0000445
3756	KCNH1	Increased number of teeth	HP:0011069
3756	KCNH1	Thick eyebrow	HP:0000574
3756	KCNH1	Hepatomegaly	HP:0002240
3756	KCNH1	Short distal phalanx of toe	HP:0001857
3756	KCNH1	Bifid uvula	HP:0000193
3756	KCNH1	Broad hallux	HP:0010055
3756	KCNH1	Thick nasal alae	HP:0009928
3756	KCNH1	Flat forehead	HP:0004425
3756	KCNH1	Generalized hypertrichosis	HP:0004554
3756	KCNH1	Deep plantar creases	HP:0001869
3756	KCNH1	Splenomegaly	HP:0001744
3756	KCNH1	Soft skin	HP:0000977
3756	KCNH1	Gingival overgrowth	HP:0000212
3756	KCNH1	Short neck	HP:0000470
3756	KCNH1	Long philtrum	HP:0000343
3756	KCNH1	Abnormality of cardiovascular system morphology	HP:0030680
3756	KCNH1	Large fleshy ears	HP:0002265
3756	KCNH1	High palate	HP:0000218
3756	KCNH1	Scoliosis	HP:0002650
3756	KCNH1	Micrognathia	HP:0000347
3756	KCNH1	Pseudoepiphysis of the thumb	HP:0009693
3756	KCNH1	Intellectual disability	HP:0001249
3756	KCNH1	Pes cavus	HP:0001761
3756	KCNH1	Seizures	HP:0001250
3756	KCNH1	Spina bifida occulta	HP:0003298
3756	KCNH1	Growth abnormality	HP:0001507
3756	KCNH1	Pes planus	HP:0001763
3756	KCNH1	Muscular hypotonia	HP:0001252
3756	KCNH1	Cardiomyopathy	HP:0001638
3756	KCNH1	Posteriorly rotated ears	HP:0000358
3756	KCNH1	Joint hypermobility	HP:0001382
3756	KCNH1	Growth delay	HP:0001510
3756	KCNH1	Intellectual disability, progressive	HP:0006887
3756	KCNH1	Patent ductus arteriosus	HP:0001643
3756	KCNH1	Hearing impairment	HP:0000365
3756	KCNH1	Downslanted palpebral fissures	HP:0000494
3756	KCNH1	Global developmental delay	HP:0001263
3756	KCNH1	Hirsutism	HP:0001007
3756	KCNH1	Intellectual disability, severe	HP:0010864
3756	KCNH1	Infantile muscular hypotonia	HP:0008947
3756	KCNH1	Overtubulated long bones	HP:0006391
3756	KCNH1	Aortic arch aneurysm	HP:0005113
3756	KCNH1	Telecanthus	HP:0000506
3757	KCNH2	Torsade de pointes	HP:0001664
3757	KCNH2	Autosomal dominant inheritance	HP:0000006
3757	KCNH2	Shortened QT interval	HP:0012232
3757	KCNH2	Palpitations	HP:0001962
3757	KCNH2	Sudden cardiac death	HP:0001645
3757	KCNH2	Atrioventricular block	HP:0001678
3757	KCNH2	Heterogeneous	HP:0001425
3757	KCNH2	Atrial fibrillation	HP:0005110
3757	KCNH2	Prolonged QT interval	HP:0001657
3757	KCNH2	Bradycardia	HP:0001662
3757	KCNH2	Syncope	HP:0001279
3757	KCNH2	Ventricular fibrillation	HP:0001663
3757	KCNH2	Cardiac arrest	HP:0001695
3758	KCNJ1	Renal potassium wasting	HP:0000128
3758	KCNJ1	Macrocephaly	HP:0000256
3758	KCNJ1	Tetany	HP:0001281
3758	KCNJ1	Autosomal recessive inheritance	HP:0000007
3758	KCNJ1	Increased urinary potassium	HP:0003081
3758	KCNJ1	Macrotia	HP:0000400
3758	KCNJ1	Heterogeneous	HP:0001425
3758	KCNJ1	Dehydration	HP:0001944
3758	KCNJ1	Fever	HP:0001945
3758	KCNJ1	Polyhydramnios	HP:0001561
3758	KCNJ1	Fetal polyuria	HP:0001563
3758	KCNJ1	Chondrocalcinosis	HP:0000934
3758	KCNJ1	Polydipsia	HP:0001959
3758	KCNJ1	Hypokalemic metabolic alkalosis	HP:0001960
3758	KCNJ1	Hypochloremia	HP:0003113
3758	KCNJ1	Osteopenia	HP:0000938
3758	KCNJ1	Muscle spasm	HP:0003394
3758	KCNJ1	Abnormally large globe	HP:0001090
3758	KCNJ1	Triangular face	HP:0000325
3758	KCNJ1	Hyperprostaglandinuria	HP:0003527
3758	KCNJ1	Low-to-normal blood pressure	HP:0002632
3758	KCNJ1	Hyperactive renin-angiotensin system	HP:0000841
3758	KCNJ1	Paresthesia	HP:0003401
3758	KCNJ1	Increased circulating renin level	HP:0000848
3758	KCNJ1	Impaired platelet aggregation	HP:0003540
3758	KCNJ1	Prominent forehead	HP:0011220
3758	KCNJ1	Hypokalemia	HP:0002900
3758	KCNJ1	Premature birth	HP:0001622
3758	KCNJ1	Hyposthenuria	HP:0003158
3758	KCNJ1	Frontal bossing	HP:0002007
3758	KCNJ1	Hyperaldosteronism	HP:0000859
3758	KCNJ1	Vomiting	HP:0002013
3758	KCNJ1	Diarrhea	HP:0002014
3758	KCNJ1	Intellectual disability	HP:0001249
3758	KCNJ1	Hyperchloriduria	HP:0002914
3758	KCNJ1	Short stature	HP:0004322
3758	KCNJ1	Seizures	HP:0001250
3758	KCNJ1	Constipation	HP:0002019
3758	KCNJ1	Failure to thrive	HP:0001508
3758	KCNJ1	Hypomagnesemia	HP:0002917
3758	KCNJ1	Hypercalciuria	HP:0002150
3758	KCNJ1	Polyuria	HP:0000103
3758	KCNJ1	Increased serum prostaglandin E2	HP:0003566
3758	KCNJ1	Small for gestational age	HP:0001518
3758	KCNJ1	Global developmental delay	HP:0001263
3758	KCNJ1	Renal juxtaglomerular cell hypertrophy/hyperplasia	HP:0000111
3758	KCNJ1	Nephrocalcinosis	HP:0000121
3758	KCNJ1	Generalized muscle weakness	HP:0003324
3758	KCNJ1	Renal salt wasting	HP:0000127
3759	KCNJ2	Brachydactyly	HP:0001156
3759	KCNJ2	Autosomal dominant inheritance	HP:0000006
3759	KCNJ2	Atrioventricular block	HP:0001678
3759	KCNJ2	Malar flattening	HP:0000272
3759	KCNJ2	Paroxysmal atrial fibrillation	HP:0004757
3759	KCNJ2	Hypoplasia of dental enamel	HP:0006297
3759	KCNJ2	Bidirectional ventricular ectopy	HP:0005147
3759	KCNJ2	Slender long bone	HP:0003100
3759	KCNJ2	Bulbous nose	HP:0000414
3759	KCNJ2	Oligodontia	HP:0000677
3759	KCNJ2	Palpitations	HP:0001962
3759	KCNJ2	Cleft palate	HP:0000175
3759	KCNJ2	Specific learning disability	HP:0001328
3759	KCNJ2	Short palm	HP:0004279
3759	KCNJ2	Delayed eruption of permanent teeth	HP:0000696
3759	KCNJ2	Hypertelorism	HP:0000316
3759	KCNJ2	Delayed skeletal maturation	HP:0002750
3759	KCNJ2	Persistence of primary teeth	HP:0006335
3759	KCNJ2	Short metacarpal	HP:0010049
3759	KCNJ2	Short mandibular rami	HP:0003778
3759	KCNJ2	Antegonial notching of mandible	HP:0003779
3759	KCNJ2	Facial asymmetry	HP:0000324
3759	KCNJ2	Blepharophimosis	HP:0000581
3759	KCNJ2	Triangular face	HP:0000325
3759	KCNJ2	Hypoplasia of the maxilla	HP:0000327
3759	KCNJ2	Shortened QT interval	HP:0012232
3759	KCNJ2	Clinodactyly of the 5th toe	HP:0001864
3759	KCNJ2	Short palpebral fissure	HP:0012745
3759	KCNJ2	Short phalanx of finger	HP:0009803
3759	KCNJ2	Depressivity	HP:0000716
3759	KCNJ2	Broad forehead	HP:0000337
3759	KCNJ2	Periodic hypokalemic paresis	HP:0008153
3759	KCNJ2	Scoliosis	HP:0002650
3759	KCNJ2	High palate	HP:0000218
3759	KCNJ2	Thin upper lip vermilion	HP:0000219
3759	KCNJ2	Growth abnormality	HP:0001507
3759	KCNJ2	Prominent frontal sinuses	HP:0005478
3759	KCNJ2	Toe syndactyly	HP:0001770
3759	KCNJ2	Scapular winging	HP:0003691
3759	KCNJ2	Joint laxity	HP:0001388
3759	KCNJ2	Sudden cardiac death	HP:0001645
3759	KCNJ2	Short foot	HP:0001773
3759	KCNJ2	Prominent U wave	HP:0025072
3759	KCNJ2	Tachycardia	HP:0001649
3759	KCNJ2	Clinodactyly of the 5th finger	HP:0004209
3759	KCNJ2	Low-set ears	HP:0000369
3759	KCNJ2	Preauricular pit	HP:0004467
3759	KCNJ2	Small hand	HP:0200055
3759	KCNJ2	Atrial fibrillation	HP:0005110
3759	KCNJ2	Short metatarsal	HP:0010743
3759	KCNJ2	Prolonged QT interval	HP:0001657
3759	KCNJ2	Microcephaly	HP:0000252
3759	KCNJ2	Bradycardia	HP:0001662
3759	KCNJ2	Syncope	HP:0001279
3759	KCNJ2	Ventricular fibrillation	HP:0001663
3762	KCNJ5	Autosomal dominant inheritance	HP:0000006
3762	KCNJ5	Headache	HP:0002315
3762	KCNJ5	Coronary artery atherosclerosis	HP:0001677
3762	KCNJ5	Atrioventricular block	HP:0001678
3762	KCNJ5	Abnormal circulating renin	HP:0040084
3762	KCNJ5	Hypokalemia	HP:0002900
3762	KCNJ5	Paroxysmal atrial fibrillation	HP:0004757
3762	KCNJ5	Metabolic acidosis	HP:0001942
3762	KCNJ5	Decreased circulating renin level	HP:0003351
3762	KCNJ5	Hyperaldosteronism	HP:0000859
3762	KCNJ5	Glucocortocoid-insensitive primary hyperaldosteronism	HP:0011740
3762	KCNJ5	Pulmonary embolism	HP:0002204
3762	KCNJ5	Adrenal hyperplasia	HP:0008221
3762	KCNJ5	Cardiac arrest	HP:0001695
3762	KCNJ5	Nausea	HP:0002018
3762	KCNJ5	Congestive heart failure	HP:0001635
3762	KCNJ5	Epistaxis	HP:0000421
3762	KCNJ5	Hypercalciuria	HP:0002150
3762	KCNJ5	Polydipsia	HP:0001959
3762	KCNJ5	Polyuria	HP:0000103
3762	KCNJ5	Tinnitus	HP:0000360
3762	KCNJ5	Muscle weakness	HP:0001324
3762	KCNJ5	Left ventricular hypertrophy	HP:0001712
3762	KCNJ5	Metabolic alkalosis	HP:0200114
3762	KCNJ5	Tachycardia	HP:0001649
3762	KCNJ5	Hypertension	HP:0000822
3762	KCNJ5	Atrial fibrillation	HP:0005110
3762	KCNJ5	Prolonged QT interval	HP:0001657
3762	KCNJ5	Intracranial hemorrhage	HP:0002170
3762	KCNJ5	Syncope	HP:0001279
3763	KCNJ6	Postnatal growth retardation	HP:0008897
3763	KCNJ6	Abnormally large globe	HP:0001090
3763	KCNJ6	Open mouth	HP:0000194
3763	KCNJ6	Short philtrum	HP:0000322
3763	KCNJ6	Hyperreflexia	HP:0001347
3763	KCNJ6	Opisthotonus	HP:0002179
3763	KCNJ6	Recurrent pneumonia	HP:0006532
3763	KCNJ6	Febrile seizures	HP:0002373
3763	KCNJ6	Spastic tetraparesis	HP:0001285
3763	KCNJ6	Autosomal dominant inheritance	HP:0000006
3763	KCNJ6	Premature skin wrinkling	HP:0100678
3763	KCNJ6	Proptosis	HP:0000520
3763	KCNJ6	Shallow orbits	HP:0000586
3763	KCNJ6	Intellectual disability, profound	HP:0002187
3763	KCNJ6	Narrow naris	HP:0009933
3763	KCNJ6	Progeroid facial appearance	HP:0005328
3763	KCNJ6	Severe global developmental delay	HP:0011344
3763	KCNJ6	High, narrow palate	HP:0002705
3763	KCNJ6	Gingival overgrowth	HP:0000212
3763	KCNJ6	Polyhydramnios	HP:0001561
3763	KCNJ6	Scoliosis	HP:0002650
3763	KCNJ6	Prominent nasal tip	HP:0005274
3763	KCNJ6	High palate	HP:0000218
3763	KCNJ6	Micrognathia	HP:0000347
3763	KCNJ6	Flexion contracture	HP:0001371
3763	KCNJ6	Upper airway obstruction	HP:0002781
3763	KCNJ6	Decreased testicular size	HP:0008734
3763	KCNJ6	Abnormality of the forehead	HP:0000290
3763	KCNJ6	Seizures	HP:0001250
3763	KCNJ6	Increased susceptibility to fractures	HP:0002659
3763	KCNJ6	Congenital generalized lipodystrophy	HP:0009059
3763	KCNJ6	Failure to thrive	HP:0001508
3763	KCNJ6	Loss of facial adipose tissue	HP:0000292
3763	KCNJ6	Generalized lipodystrophy	HP:0009064
3763	KCNJ6	Mask-like facies	HP:0000298
3763	KCNJ6	Respiratory insufficiency	HP:0002093
3763	KCNJ6	Underdeveloped nasal alae	HP:0000430
3763	KCNJ6	Dyspnea	HP:0002094
3763	KCNJ6	Intellectual disability, severe	HP:0010864
3763	KCNJ6	Abnormality of eye movement	HP:0000496
3763	KCNJ6	Tented upper lip vermilion	HP:0010804
3763	KCNJ6	Microcephaly	HP:0000252
3763	KCNJ6	Absence of subcutaneous fat	HP:0007485
3763	KCNJ6	Narrow nasal bridge	HP:0000446
3763	KCNJ6	Dimple chin	HP:0010751
3764	KCNJ8	Macrocephaly	HP:0000256
3764	KCNJ8	Umbilical hernia	HP:0001537
3764	KCNJ8	Narrow chest	HP:0000774
3764	KCNJ8	Broad hallux phalanx	HP:0010059
3764	KCNJ8	Deep plantar creases	HP:0001869
3764	KCNJ8	Anteverted nares	HP:0000463
3764	KCNJ8	Long eyelashes	HP:0000527
3764	KCNJ8	Prominent supraorbital ridges	HP:0000336
3764	KCNJ8	Finger syndactyly	HP:0006101
3764	KCNJ8	Short neck	HP:0000470
3764	KCNJ8	Long philtrum	HP:0000343
3764	KCNJ8	Coarse facial features	HP:0000280
3764	KCNJ8	Cuboid-shaped vertebral bodies	HP:0004634
3764	KCNJ8	Wide mouth	HP:0000154
3764	KCNJ8	Short distal phalanx of finger	HP:0009882
3764	KCNJ8	Skeletal dysplasia	HP:0002652
3764	KCNJ8	Platyspondyly	HP:0000926
3764	KCNJ8	Epicanthus	HP:0000286
3764	KCNJ8	Ovoid vertebral bodies	HP:0003300
3764	KCNJ8	Low anterior hairline	HP:0000294
3764	KCNJ8	Hypertrophic cardiomyopathy	HP:0001639
3764	KCNJ8	Intellectual disability, mild	HP:0001256
3764	KCNJ8	Cardiomegaly	HP:0001640
3764	KCNJ8	Osteoporosis	HP:0000939
3764	KCNJ8	Patent ductus arteriosus	HP:0001643
3764	KCNJ8	Wide nasal bridge	HP:0000431
3764	KCNJ8	Abnormality of the metaphysis	HP:0000944
3764	KCNJ8	Accelerated skeletal maturation	HP:0005616
3764	KCNJ8	Curly eyelashes	HP:0007665
3764	KCNJ8	Coxa valga	HP:0002673
3764	KCNJ8	Low posterior hairline	HP:0002162
3764	KCNJ8	Broad ribs	HP:0000885
3764	KCNJ8	Abnormal heart valve morphology	HP:0001654
3764	KCNJ8	Generalized hirsutism	HP:0002230
3764	KCNJ8	Thick vermilion border	HP:0012471
3764	KCNJ8	Short hallux	HP:0010109
3764	KCNJ8	Delayed skeletal maturation	HP:0002750
3764	KCNJ8	Thick eyebrow	HP:0000574
3766	KCNJ10	Renal potassium wasting	HP:0000128
3766	KCNJ10	Salt craving	HP:0030083
3766	KCNJ10	Autosomal recessive inheritance	HP:0000007
3766	KCNJ10	Infantile onset	HP:0003593
3766	KCNJ10	Generalized hypotonia	HP:0001290
3766	KCNJ10	Hypoplasia of the cochlea	HP:0008586
3766	KCNJ10	Peripheral hypomyelination	HP:0007182
3766	KCNJ10	Vertigo	HP:0002321
3766	KCNJ10	Abnormality of metabolism/homeostasis	HP:0001939
3766	KCNJ10	Sensorineural hearing impairment	HP:0000407
3766	KCNJ10	Dysdiadochokinesis	HP:0002075
3766	KCNJ10	Compensated hypothyroidism	HP:0008223
3766	KCNJ10	Intention tremor	HP:0002080
3766	KCNJ10	Enuresis	HP:0000805
3766	KCNJ10	Intellectual disability, moderate	HP:0002342
3766	KCNJ10	Polydipsia	HP:0001959
3766	KCNJ10	Hypokalemic metabolic alkalosis	HP:0001960
3766	KCNJ10	Respiratory insufficiency	HP:0002093
3766	KCNJ10	Hypothyroidism	HP:0000821
3766	KCNJ10	Hypocalciuria	HP:0003127
3766	KCNJ10	Renal sodium wasting	HP:0012606
3766	KCNJ10	Abnormality of the mitochondrion	HP:0012103
3766	KCNJ10	Thyroid carcinoma	HP:0002890
3766	KCNJ10	Hyperparathyroidism	HP:0000843
3766	KCNJ10	Congenital sensorineural hearing impairment	HP:0008527
3766	KCNJ10	Increased circulating renin level	HP:0000848
3766	KCNJ10	Hypokalemia	HP:0002900
3766	KCNJ10	Goiter	HP:0000853
3766	KCNJ10	Vestibular dysfunction	HP:0001751
3766	KCNJ10	Tracheal stenosis	HP:0002777
3766	KCNJ10	Hyperaldosteronism	HP:0000859
3766	KCNJ10	Abnormal renal tubule morphology	HP:0000091
3766	KCNJ10	Intellectual disability	HP:0001249
3766	KCNJ10	Seizures	HP:0001250
3766	KCNJ10	Short stature	HP:0004322
3766	KCNJ10	Chronic axonal neuropathy	HP:0007267
3766	KCNJ10	Ataxia	HP:0001251
3766	KCNJ10	Muscular hypotonia	HP:0001252
3766	KCNJ10	Failure to thrive	HP:0001508
3766	KCNJ10	Hypomagnesemia	HP:0002917
3766	KCNJ10	Polyuria	HP:0000103
3766	KCNJ10	Cochlear malformation	HP:0008554
3766	KCNJ10	Delayed speech and language development	HP:0000750
3766	KCNJ10	Global developmental delay	HP:0001263
3766	KCNJ10	Nephropathy	HP:0000112
3766	KCNJ10	Neurological speech impairment	HP:0002167
3766	KCNJ10	Incomplete partition of the cochlea type II	HP:0000376
3766	KCNJ10	Cerebellar atrophy	HP:0001272
3766	KCNJ10	Enlarged vestibular aqueduct	HP:0011387
3766	KCNJ10	Renal salt wasting	HP:0000127
3767	KCNJ11	Hyperglycemia	HP:0003074
3767	KCNJ11	Reduced pancreatic beta cells	HP:0006274
3767	KCNJ11	Clinodactyly	HP:0030084
3767	KCNJ11	Glycosuria	HP:0003076
3767	KCNJ11	Autosomal dominant inheritance	HP:0000006
3767	KCNJ11	Beta-cell dysfunction	HP:0006279
3767	KCNJ11	Autosomal recessive inheritance	HP:0000007
3767	KCNJ11	Abnormal circulating fatty-acid concentration	HP:0004359
3767	KCNJ11	Apraxia	HP:0002186
3767	KCNJ11	Steatorrhea	HP:0002570
3767	KCNJ11	Heterogeneous	HP:0001425
3767	KCNJ11	Generalized tonic-clonic seizures	HP:0002069
3767	KCNJ11	Peripheral axonal neuropathy	HP:0003477
3767	KCNJ11	Vitamin B1 deficiency	HP:0100503
3767	KCNJ11	Hypoglycemia	HP:0001943
3767	KCNJ11	Dehydration	HP:0001944
3767	KCNJ11	Elevated hemoglobin A1c	HP:0040217
3767	KCNJ11	Drowsiness	HP:0002329
3767	KCNJ11	Downturned corners of mouth	HP:0002714
3767	KCNJ11	Abnormality of the immune system	HP:0002715
3767	KCNJ11	Pancreatic islet-cell hyperplasia	HP:0004510
3767	KCNJ11	Weight loss	HP:0001824
3767	KCNJ11	Pancreatic hypoplasia	HP:0002594
3767	KCNJ11	Thickened ears	HP:0009894
3767	KCNJ11	Neonatal onset	HP:0003623
3767	KCNJ11	Maturity-onset diabetes of the young	HP:0004904
3767	KCNJ11	Progressive neurologic deterioration	HP:0002344
3767	KCNJ11	Muscle weakness	HP:0001324
3767	KCNJ11	Secondary growth hormone deficiency	HP:0008240
3767	KCNJ11	Limb joint contracture	HP:0003121
3767	KCNJ11	Microalbuminuria	HP:0012594
3767	KCNJ11	Diabetes mellitus	HP:0000819
3767	KCNJ11	Hyperinsulinemic hypoglycemia	HP:0000825
3767	KCNJ11	Transient neonatal diabetes mellitus	HP:0008255
3767	KCNJ11	Hepatomegaly	HP:0002240
3767	KCNJ11	Hypoketotic hypoglycemia	HP:0001985
3767	KCNJ11	Maternal diabetes	HP:0009800
3767	KCNJ11	Ketoacidosis	HP:0001993
3767	KCNJ11	Agitation	HP:0000713
3767	KCNJ11	Generalized myoclonic seizures	HP:0002123
3767	KCNJ11	Abnormality of the pancreatic islet cells	HP:0006476
3767	KCNJ11	Mild global developmental delay	HP:0011342
3767	KCNJ11	Neonatal hypoglycemia	HP:0001998
3767	KCNJ11	Anteverted nares	HP:0000463
3767	KCNJ11	Hyperhidrosis	HP:0000975
3767	KCNJ11	Bilateral ptosis	HP:0001488
3767	KCNJ11	Pallor	HP:0000980
3767	KCNJ11	Abnormality of the ear	HP:0000598
3767	KCNJ11	Long philtrum	HP:0000343
3767	KCNJ11	Clinodactyly of the 4th finger	HP:0040025
3767	KCNJ11	Hypsarrhythmia	HP:0002521
3767	KCNJ11	Neonatal insulin-dependent diabetes mellitus	HP:0000857
3767	KCNJ11	Abnormal heart morphology	HP:0001627
3767	KCNJ11	Vomiting	HP:0002013
3767	KCNJ11	Diarrhea	HP:0002014
3767	KCNJ11	Intellectual disability	HP:0001249
3767	KCNJ11	Seizures	HP:0001250
3767	KCNJ11	Hypovolemia	HP:0011106
3767	KCNJ11	Ataxia	HP:0001251
3767	KCNJ11	Decreased circulating cortisol level	HP:0008163
3767	KCNJ11	Failure to thrive	HP:0001508
3767	KCNJ11	Muscular hypotonia	HP:0001252
3767	KCNJ11	Peripheral neuropathy	HP:0009830
3767	KCNJ11	Lethargy	HP:0001254
3767	KCNJ11	Intrauterine growth retardation	HP:0001511
3767	KCNJ11	Ketonuria	HP:0002919
3767	KCNJ11	Muscular hypotonia of the trunk	HP:0008936
3767	KCNJ11	Retinopathy	HP:0000488
3767	KCNJ11	Coma	HP:0001259
3767	KCNJ11	Hearing impairment	HP:0000365
3767	KCNJ11	Small for gestational age	HP:0001518
3767	KCNJ11	Prominent metopic ridge	HP:0005487
3767	KCNJ11	Global developmental delay	HP:0001263
3767	KCNJ11	Intellectual disability, severe	HP:0010864
3767	KCNJ11	Large for gestational age	HP:0001520
3767	KCNJ11	Tachycardia	HP:0001649
3767	KCNJ11	Abnormal brain FDG positron emission tomography	HP:0012658
3767	KCNJ11	Arthrogryposis multiplex congenita	HP:0002804
3767	KCNJ11	Motor delay	HP:0001270
3767	KCNJ11	Contractures of the joints of the lower limbs	HP:0005750
3767	KCNJ11	Radial deviation of finger	HP:0009466
3767	KCNJ11	Short nose	HP:0003196
3767	KCNJ11	Ptosis	HP:0000508
3767	KCNJ11	Renal tubular dysfunction	HP:0000124
3767	KCNJ11	Microcephaly	HP:0000252
3769	KCNJ13	Abnormal electroretinogram	HP:0000512
3769	KCNJ13	Cataract	HP:0000518
3769	KCNJ13	Autosomal dominant inheritance	HP:0000006
3769	KCNJ13	Autosomal recessive inheritance	HP:0000007
3769	KCNJ13	Optically empty vitreous	HP:0030663
3769	KCNJ13	Nyctalopia	HP:0000662
3769	KCNJ13	Hemiplegia/hemiparesis	HP:0004374
3769	KCNJ13	Abnormality of retinal pigmentation	HP:0007703
3769	KCNJ13	Abnormality of neuronal migration	HP:0002269
3769	KCNJ13	Vitreoretinopathy	HP:0007773
3769	KCNJ13	Optic disc pallor	HP:0000543
3769	KCNJ13	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
3769	KCNJ13	Intellectual disability	HP:0001249
3769	KCNJ13	Seizures	HP:0001250
3769	KCNJ13	Encephalocele	HP:0002084
3769	KCNJ13	Muscular hypotonia	HP:0001252
3769	KCNJ13	Photophobia	HP:0000613
3769	KCNJ13	Strabismus	HP:0000486
3769	KCNJ13	Hearing impairment	HP:0000365
3769	KCNJ13	Reduced visual acuity	HP:0007663
3769	KCNJ13	Global developmental delay	HP:0001263
3769	KCNJ13	Keratoconus	HP:0000563
3769	KCNJ13	Severely reduced visual acuity	HP:0001141
3769	KCNJ13	Abnormality of the optic disc	HP:0012795
3769	KCNJ13	Nystagmus	HP:0000639
3777	KCNK3	Incomplete penetrance	HP:0003829
3777	KCNK3	Increased pulmonary vascular resistance	HP:0005317
3777	KCNK3	Autosomal dominant inheritance	HP:0000006
3777	KCNK3	Arrhythmia	HP:0011675
3777	KCNK3	Progressive	HP:0003676
3777	KCNK3	Pulmonary arterial hypertension	HP:0002092
3778	KCNMA1	Poor speech	HP:0002465
3778	KCNMA1	EEG with spike-wave complexes (>3.5 Hz)	HP:0010849
3778	KCNMA1	Generalized tonic-clonic seizures with focal onset	HP:0007334
3778	KCNMA1	Autosomal dominant inheritance	HP:0000006
3778	KCNMA1	Infantile onset	HP:0003593
3778	KCNMA1	Absence seizure	HP:0002121
3778	KCNMA1	Intellectual disability, borderline	HP:0006889
3778	KCNMA1	Generalized hypotonia	HP:0001290
3778	KCNMA1	Global developmental delay	HP:0001263
3778	KCNMA1	EEG abnormality	HP:0002353
3778	KCNMA1	Variable expressivity	HP:0003828
3778	KCNMA1	Generalized tonic-clonic seizures	HP:0002069
3778	KCNMA1	Esotropia	HP:0000565
3778	KCNMA1	Dyskinesia	HP:0100660
3778	KCNMA1	Cerebellar atrophy	HP:0001272
3778	KCNMA1	Chorea	HP:0002072
3778	KCNMA1	Paroxysmal dyskinesia	HP:0007166
3778	KCNMA1	Nystagmus	HP:0000639
3783	KCNN4	Splenomegaly	HP:0001744
3783	KCNN4	Hepatomegaly	HP:0002240
3783	KCNN4	Reticulocytosis	HP:0001923
3783	KCNN4	Autosomal dominant inheritance	HP:0000006
3783	KCNN4	Hemolytic anemia	HP:0001878
3783	KCNN4	Acanthocytosis	HP:0001927
3783	KCNN4	Anisopoikilocytosis	HP:0004823
3783	KCNN4	Jaundice	HP:0000952
3783	KCNN4	Hyperbilirubinemia	HP:0002904
3783	KCNN4	Increased mean corpuscular hemoglobin concentration	HP:0025548
3783	KCNN4	Increased mean corpuscular volume	HP:0005518
3784	KCNQ1	Torsade de pointes	HP:0001664
3784	KCNQ1	Omphalocele	HP:0001539
3784	KCNQ1	Diastasis recti	HP:0001540
3784	KCNQ1	Pancreatic hyperplasia	HP:0006277
3784	KCNQ1	Autosomal dominant inheritance	HP:0000006
3784	KCNQ1	Autosomal recessive inheritance	HP:0000007
3784	KCNQ1	Proptosis	HP:0000520
3784	KCNQ1	Overgrowth	HP:0001548
3784	KCNQ1	Prominent occiput	HP:0000269
3784	KCNQ1	Atrioventricular block	HP:0001678
3784	KCNQ1	Heterogeneous	HP:0001425
3784	KCNQ1	Stroke	HP:0001297
3784	KCNQ1	Nephrolithiasis	HP:0000787
3784	KCNQ1	Gonadoblastoma	HP:0000150
3784	KCNQ1	Coarse facial features	HP:0000280
3784	KCNQ1	Midface retrusion	HP:0011800
3784	KCNQ1	Dandy-Walker malformation	HP:0001305
3784	KCNQ1	Nevus flammeus	HP:0001052
3784	KCNQ1	Cryptorchidism	HP:0000028
3784	KCNQ1	Macroglossia	HP:0000158
3784	KCNQ1	Renal cortical cysts	HP:0000803
3784	KCNQ1	Palpitations	HP:0001962
3784	KCNQ1	Overgrowth of external genitalia	HP:0003247
3784	KCNQ1	Thromboembolic stroke	HP:0001727
3784	KCNQ1	Hepatomegaly	HP:0002240
3784	KCNQ1	Hepatoblastoma	HP:0002884
3784	KCNQ1	Shortened QT interval	HP:0012232
3784	KCNQ1	Posterior helix pit	HP:0008523
3784	KCNQ1	Vesicoureteral reflux	HP:0000076
3784	KCNQ1	Neonatal hypoglycemia	HP:0001998
3784	KCNQ1	Congenital sensorineural hearing impairment	HP:0008527
3784	KCNQ1	Abnormality of the ear	HP:0000598
3784	KCNQ1	Adrenocortical carcinoma	HP:0006744
3784	KCNQ1	Cardiomyopathy	HP:0001638
3784	KCNQ1	Cardiomegaly	HP:0001640
3784	KCNQ1	Enlarged kidney	HP:0000105
3784	KCNQ1	Nephroblastoma	HP:0002667
3784	KCNQ1	Sudden cardiac death	HP:0001645
3784	KCNQ1	Large fontanelles	HP:0000239
3784	KCNQ1	Prominent metopic ridge	HP:0005487
3784	KCNQ1	Accelerated skeletal maturation	HP:0005616
3784	KCNQ1	Tachycardia	HP:0001649
3784	KCNQ1	Atrial fibrillation	HP:0005110
3784	KCNQ1	Hemihypertrophy	HP:0001528
3784	KCNQ1	Prolonged QT interval	HP:0001657
3784	KCNQ1	Nephrocalcinosis	HP:0000121
3784	KCNQ1	Adrenocortical cytomegaly	HP:0008186
3784	KCNQ1	Bradycardia	HP:0001662
3784	KCNQ1	Syncope	HP:0001279
3784	KCNQ1	Ventricular fibrillation	HP:0001663
3785	KCNQ2	Profound global developmental delay	HP:0012736
3785	KCNQ2	Feeding difficulties	HP:0011968
3785	KCNQ2	Generalized tonic seizures	HP:0010818
3785	KCNQ2	Spastic tetraparesis	HP:0001285
3785	KCNQ2	Epileptic encephalopathy	HP:0200134
3785	KCNQ2	Febrile seizures	HP:0002373
3785	KCNQ2	Cerebral edema	HP:0002181
3785	KCNQ2	Autosomal dominant inheritance	HP:0000006
3785	KCNQ2	Autosomal recessive inheritance	HP:0000007
3785	KCNQ2	Infantile onset	HP:0003593
3785	KCNQ2	Generalized hypotonia	HP:0001290
3785	KCNQ2	Cerebral atrophy	HP:0002059
3785	KCNQ2	Heterogeneous	HP:0001425
3785	KCNQ2	Facial erythema	HP:0001041
3785	KCNQ2	Pallor	HP:0000980
3785	KCNQ2	Reduced consciousness/confusion	HP:0004372
3785	KCNQ2	Generalized tonic-clonic seizures	HP:0002069
3785	KCNQ2	Abnormal globus pallidus morphology	HP:0002453
3785	KCNQ2	Hypsarrhythmia	HP:0002521
3785	KCNQ2	Epileptic spasms	HP:0011097
3785	KCNQ2	Focal clonic seizures	HP:0002266
3785	KCNQ2	Fatigue	HP:0012378
3785	KCNQ2	Migraine	HP:0002076
3785	KCNQ2	Hypoplasia of the corpus callosum	HP:0002079
3785	KCNQ2	Intellectual disability	HP:0001249
3785	KCNQ2	Nausea and vomiting	HP:0002017
3785	KCNQ2	Seizures	HP:0001250
3785	KCNQ2	Hallucinations	HP:0000738
3785	KCNQ2	EEG with burst suppression	HP:0010851
3785	KCNQ2	Muscular hypotonia	HP:0001252
3785	KCNQ2	Neonatal onset	HP:0003623
3785	KCNQ2	Poor gross motor coordination	HP:0007015
3785	KCNQ2	Deeply set eye	HP:0000490
3785	KCNQ2	Myokymia	HP:0002411
3785	KCNQ2	Inability to walk	HP:0002540
3785	KCNQ2	Global developmental delay	HP:0001263
3785	KCNQ2	Choreoathetosis	HP:0001266
3785	KCNQ2	Memory impairment	HP:0002354
3785	KCNQ2	Dystonia	HP:0001332
3785	KCNQ2	Dyskinesia	HP:0100660
3785	KCNQ2	Dysphasia	HP:0002357
3785	KCNQ2	Motor delay	HP:0001270
3785	KCNQ2	Dysesthesia	HP:0012534
3785	KCNQ2	Apnea	HP:0002104
3785	KCNQ2	Abnormality of vision	HP:0000504
3785	KCNQ2	Myoclonus	HP:0001336
3785	KCNQ2	Hypertonia	HP:0001276
3785	KCNQ2	Cognitive impairment	HP:0100543
3786	KCNQ3	Febrile seizures	HP:0002373
3786	KCNQ3	Autosomal dominant inheritance	HP:0000006
3786	KCNQ3	Absence seizure	HP:0002121
3786	KCNQ3	Aggressive behavior	HP:0000718
3786	KCNQ3	Reduced consciousness/confusion	HP:0004372
3786	KCNQ3	Generalized tonic-clonic seizures	HP:0002069
3786	KCNQ3	Status epilepticus	HP:0002133
3786	KCNQ3	Morning myoclonic jerks	HP:0007000
3786	KCNQ3	EEG with polyspike wave complexes	HP:0002392
3786	KCNQ3	Abnormality of the mouth	HP:0000153
3786	KCNQ3	Focal clonic seizures	HP:0002266
3786	KCNQ3	Fatigue	HP:0012378
3786	KCNQ3	Migraine	HP:0002076
3786	KCNQ3	Nausea and vomiting	HP:0002017
3786	KCNQ3	Seizures	HP:0001250
3786	KCNQ3	Hallucinations	HP:0000738
3786	KCNQ3	Muscular hypotonia	HP:0001252
3786	KCNQ3	Photosensitive tonic-clonic seizures	HP:0007207
3786	KCNQ3	Deeply set eye	HP:0000490
3786	KCNQ3	Abnormality of eye movement	HP:0000496
3786	KCNQ3	Choreoathetosis	HP:0001266
3786	KCNQ3	Memory impairment	HP:0002354
3786	KCNQ3	Dyskinesia	HP:0100660
3786	KCNQ3	Dysphasia	HP:0002357
3786	KCNQ3	Dysesthesia	HP:0012534
3786	KCNQ3	Abnormality of vision	HP:0000504
3786	KCNQ3	Myoclonus	HP:0001336
3786	KCNQ3	Hypertonia	HP:0001276
3786	KCNQ3	Cognitive impairment	HP:0100543
3791	KDR	Autosomal dominant inheritance	HP:0000006
3791	KDR	Capillary hemangioma	HP:0005306
200403	VWA3B	Intention tremor	HP:0002080
200403	VWA3B	Intellectual disability	HP:0001249
200403	VWA3B	Hyperreflexia	HP:0001347
200403	VWA3B	Autosomal recessive inheritance	HP:0000007
200403	VWA3B	Dysarthria	HP:0001260
200403	VWA3B	Lower limb spasticity	HP:0002061
200403	VWA3B	Unsteady gait	HP:0002317
200403	VWA3B	Abnormal pyramidal sign	HP:0007256
200403	VWA3B	Cerebellar atrophy	HP:0001272
200403	VWA3B	Slow progression	HP:0003677
200403	VWA3B	Truncal ataxia	HP:0002078
200403	VWA3B	Dysmetria	HP:0001310
200403	VWA3B	Nystagmus	HP:0000639
200403	VWA3B	Hypoplasia of the corpus callosum	HP:0002079
3796	KIF2A	Seizures	HP:0001250
3796	KIF2A	Autosomal dominant inheritance	HP:0000006
3796	KIF2A	Pachygyria	HP:0001302
3796	KIF2A	Intrauterine growth retardation	HP:0001511
3796	KIF2A	Agyria	HP:0031882
3796	KIF2A	Gray matter heterotopia	HP:0002282
3796	KIF2A	Cortical dysplasia	HP:0002539
3796	KIF2A	Microcephaly	HP:0000252
3796	KIF2A	Spastic tetraplegia	HP:0002510
3796	KIF2A	Nystagmus	HP:0000639
3796	KIF2A	Hypoplasia of the corpus callosum	HP:0002079
3796	KIF2A	Global developmental delay	HP:0001263
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	Parkinsonism	HP:0001300
3798	KIF5A	Urinary incontinence	HP:0000020
3798	KIF5A	Pallor	HP:0000980
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	Babinski sign	HP:0003487
3798	KIF5A	Dysphagia	HP:0002015
3798	KIF5A	Delayed myelination	HP:0012448
3798	KIF5A	Pes cavus	HP:0001761
3798	KIF5A	Cerebral visual impairment	HP:0100704
3798	KIF5A	Seizures	HP:0001250
3798	KIF5A	Ataxia	HP:0001251
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	Distal sensory impairment	HP:0002936
3798	KIF5A	Ankle clonus	HP:0011448
3798	KIF5A	Myoclonus	HP:0001336
3798	KIF5A	Knee clonus	HP:0011449
3798	KIF5A	Congenital onset	HP:0003577
3798	KIF5A	Microcephaly	HP:0000252
3798	KIF5A	Ptosis	HP:0000508
3798	KIF5A	Nystagmus	HP:0000639
3800	KIF5C	Absent speech	HP:0001344
3800	KIF5C	Seizures	HP:0001250
3800	KIF5C	Fetal akinesia sequence	HP:0001989
3800	KIF5C	Autosomal dominant inheritance	HP:0000006
3800	KIF5C	Intrauterine growth retardation	HP:0001511
3800	KIF5C	Cortical dysplasia	HP:0002539
3800	KIF5C	Polymicrogyria	HP:0002126
3800	KIF5C	Spastic tetraplegia	HP:0002510
3800	KIF5C	Global developmental delay	HP:0001263
3800	KIF5C	Variable expressivity	HP:0003828
3800	KIF5C	Arthrogryposis multiplex congenita	HP:0002804
3800	KIF5C	Congenital onset	HP:0003577
3800	KIF5C	Microcephaly	HP:0000252
3800	KIF5C	Hypoplasia of the corpus callosum	HP:0002079
126695	KDF1	Hyperkeratosis	HP:0000962
126695	KDF1	Short philtrum	HP:0000322
126695	KDF1	Orthokeratosis	HP:0040162
126695	KDF1	Thin skin	HP:0000963
126695	KDF1	Eczema	HP:0000964
126695	KDF1	Hypohidrosis	HP:0000966
126695	KDF1	Autosomal dominant inheritance	HP:0000006
126695	KDF1	Abnormality of skin pigmentation	HP:0001000
126695	KDF1	Depressed nasal ridge	HP:0000457
126695	KDF1	Hypotrichosis	HP:0001006
126695	KDF1	Abnormal fingernail morphology	HP:0001231
126695	KDF1	Concave nasal ridge	HP:0011120
126695	KDF1	Abnormality of dental morphology	HP:0006482
126695	KDF1	Premature loss of primary teeth	HP:0006323
126695	KDF1	Prominent forehead	HP:0011220
126695	KDF1	Nail dystrophy	HP:0008404
126695	KDF1	Thick vermilion border	HP:0012471
126695	KDF1	Sparse body hair	HP:0002231
126695	KDF1	Natal tooth	HP:0000695
126695	KDF1	Keratosis pilaris	HP:0032152
126695	KDF1	Acne inversa	HP:0040154
126695	KDF1	Hypoplastic sweat glands	HP:0007387
126695	KDF1	Hypodontia	HP:0000668
126695	KDF1	Malignant hyperthermia	HP:0002047
3814	KISS1	Abnormality of body height	HP:0000002
3814	KISS1	Gynecomastia	HP:0000771
3814	KISS1	Increased female libido	HP:0030019
3814	KISS1	Absence of pubertal development	HP:0008197
3814	KISS1	Female hypogonadism	HP:0000134
3814	KISS1	Eunuchoid habitus	HP:0003782
3814	KISS1	Autosomal recessive inheritance	HP:0000007
3814	KISS1	Abnormality of the voice	HP:0001608
3814	KISS1	Generalized joint laxity	HP:0002761
3814	KISS1	Anosmia	HP:0000458
3814	KISS1	Depressivity	HP:0000716
3814	KISS1	Hypoplasia of the uterus	HP:0000013
3814	KISS1	Congenital sensorineural hearing impairment	HP:0008527
3814	KISS1	Wide intermamillary distance	HP:0006610
3814	KISS1	Primary amenorrhea	HP:0000786
3814	KISS1	Hypoplasia of the ovary	HP:0008724
3814	KISS1	Male hypogonadism	HP:0000026
3814	KISS1	Cryptorchidism	HP:0000028
3814	KISS1	Decreased testicular size	HP:0008734
3814	KISS1	Depressed nasal bridge	HP:0005280
3814	KISS1	Camptodactyly	HP:0012385
3814	KISS1	Impotence	HP:0000802
3814	KISS1	Anxiety	HP:0000739
3814	KISS1	Abnormality of the dentition	HP:0000164
3814	KISS1	Secondary amenorrhea	HP:0000869
3814	KISS1	Osteopenia	HP:0000938
3814	KISS1	Osteoporosis	HP:0000939
3814	KISS1	Decreased serum testosterone level	HP:0040171
3814	KISS1	Hypogonadotrophic hypogonadism	HP:0000044
3814	KISS1	Cleft palate	HP:0000175
3814	KISS1	Breast hypoplasia	HP:0003187
3814	KISS1	Micropenis	HP:0000054
3814	KISS1	Sparse body hair	HP:0002231
3814	KISS1	Delayed puberty	HP:0000823
3814	KISS1	Non-obstructive azoospermia	HP:0011961
3814	KISS1	Absence of secondary sex characteristics	HP:0008187
3814	KISS1	Hypertelorism	HP:0000316
3814	KISS1	Delayed skeletal maturation	HP:0002750
3815	KIT	Urticaria	HP:0001025
3815	KIT	Chronic myelogenous leukemia	HP:0005506
3815	KIT	Abnormal blistering of the skin	HP:0008066
3815	KIT	Neoplasm of the skin	HP:0008069
3815	KIT	Gonadal dysgenesis	HP:0000133
3815	KIT	Neoplasm of the rectum	HP:0100743
3815	KIT	Autosomal dominant inheritance	HP:0000006
3815	KIT	Hypermelanotic macule	HP:0001034
3815	KIT	Carcinoma	HP:0030731
3815	KIT	Headache	HP:0002315
3815	KIT	Mastocytosis	HP:0100495
3815	KIT	Esophageal neoplasm	HP:0100751
3815	KIT	Cardiorespiratory arrest	HP:0006543
3815	KIT	Sarcoma	HP:0100242
3815	KIT	Abnormality of metabolism/homeostasis	HP:0001939
3815	KIT	Partial albinism	HP:0007443
3815	KIT	Somatic mutation	HP:0001428
3815	KIT	Synophrys	HP:0000664
3815	KIT	Large hands	HP:0001176
3815	KIT	Azoospermia	HP:0000027
3815	KIT	Cryptorchidism	HP:0000028
3815	KIT	Hypopigmented skin patches	HP:0001053
3815	KIT	Erythema	HP:0010783
3815	KIT	Telangiectasia macularis eruptiva perstans	HP:0007583
3815	KIT	Sporadic	HP:0003745
3815	KIT	Choriocarcinoma	HP:0100768
3815	KIT	White forelock	HP:0002211
3815	KIT	Chronic myelomonocytic leukemia	HP:0012325
3815	KIT	Neurofibromas	HP:0001067
3815	KIT	Myelodysplasia	HP:0002863
3815	KIT	Wide nasal bridge	HP:0000431
3815	KIT	Neoplasm of the colon	HP:0100273
3815	KIT	Thickened skin	HP:0001072
3815	KIT	White eyebrow	HP:0002226
3815	KIT	White eyelashes	HP:0002227
3815	KIT	Hyperpigmentation of the skin	HP:0000953
3815	KIT	Macule	HP:0012733
3815	KIT	Gastrointestinal hemorrhage	HP:0002239
3815	KIT	Teratoma	HP:0009792
3815	KIT	Acute myeloid leukemia	HP:0004808
3815	KIT	Edema	HP:0000969
3815	KIT	Subcutaneous nodule	HP:0001482
3815	KIT	Aganglionic megacolon	HP:0002251
3815	KIT	Heterochromia iridis	HP:0001100
3815	KIT	Profuse pigmented skin lesions	HP:0005587
3815	KIT	Cutaneous mastocytosis	HP:0200151
3815	KIT	Abnormality of the ear	HP:0000598
3815	KIT	Long philtrum	HP:0000343
3815	KIT	Eosinophilia	HP:0001880
3815	KIT	Abnormality of calvarial morphology	HP:0002648
3815	KIT	Fatigue	HP:0012378
3815	KIT	Skin rash	HP:0000988
3815	KIT	Pruritus	HP:0000989
3815	KIT	Intestinal obstruction	HP:0005214
3815	KIT	Dysphagia	HP:0002015
3815	KIT	Neoplasm of the small intestine	HP:0100833
3815	KIT	Nausea and vomiting	HP:0002017
3815	KIT	Neoplasm of the stomach	HP:0006753
3815	KIT	Intellectual disability	HP:0001249
3815	KIT	Constipation	HP:0002019
3815	KIT	Ataxia	HP:0001251
3815	KIT	Muscular hypotonia	HP:0001252
3815	KIT	Irregular hyperpigmentation	HP:0007400
3815	KIT	Neoplasm	HP:0002664
3815	KIT	Abdominal pain	HP:0002027
3815	KIT	Hearing impairment	HP:0000365
3815	KIT	Anemia	HP:0001903
3815	KIT	Abnormality of the liver	HP:0001392
3815	KIT	Gastrointestinal stroma tumor	HP:0100723
3815	KIT	Absent pigmentation of the ventral chest	HP:0007542
3815	KIT	Piebaldism	HP:0007544
3815	KIT	Non-Hodgkin lymphoma	HP:0012539
3815	KIT	Erythroderma	HP:0001019
3815	KIT	Microcephaly	HP:0000252
3818	KLKB1	Autosomal recessive inheritance	HP:0000007
3818	KLKB1	Prolonged partial thromboplastin time	HP:0003645
3832	KIF11	Cataract	HP:0000518
3832	KIF11	Autosomal dominant inheritance	HP:0000006
3832	KIF11	Amblyopia	HP:0000646
3832	KIF11	Optic atrophy	HP:0000648
3832	KIF11	Rigidity	HP:0002063
3832	KIF11	Anophthalmia	HP:0000528
3832	KIF11	Corneal opacity	HP:0007957
3832	KIF11	Simplified gyral pattern	HP:0009879
3832	KIF11	Gangrene	HP:0100758
3832	KIF11	Abnormality of retinal pigmentation	HP:0007703
3832	KIF11	Protruding ear	HP:0000411
3832	KIF11	Hypermetropia	HP:0000540
3832	KIF11	Leukonychia	HP:0001820
3832	KIF11	Retinal detachment	HP:0000541
3832	KIF11	Epicanthus	HP:0000286
3832	KIF11	Erysipelas	HP:0001055
3832	KIF11	Depressed nasal bridge	HP:0005280
3832	KIF11	Myopia	HP:0000545
3832	KIF11	Underdeveloped supraorbital ridges	HP:0009891
3832	KIF11	Retinal dysplasia	HP:0007973
3832	KIF11	Melanonychia	HP:0100644
3832	KIF11	Full cheeks	HP:0000293
3832	KIF11	Retinal dystrophy	HP:0000556
3832	KIF11	Mandibular prognathia	HP:0000303
3832	KIF11	Wide nasal bridge	HP:0000431
3832	KIF11	Thickened skin	HP:0001072
3832	KIF11	Specific learning disability	HP:0001328
3832	KIF11	Chorioretinal lacunae	HP:0007858
3832	KIF11	Thick lower lip vermilion	HP:0000179
3832	KIF11	Chorioretinal dysplasia	HP:0007731
3832	KIF11	Pointed chin	HP:0000307
3832	KIF11	Cellulitis	HP:0100658
3832	KIF11	Severe short stature	HP:0003510
3832	KIF11	Thick vermilion border	HP:0012471
3832	KIF11	Sleep disturbance	HP:0002360
3832	KIF11	Microphthalmia	HP:0000568
3832	KIF11	Visual loss	HP:0000572
3832	KIF11	Wide nose	HP:0000445
3832	KIF11	Dry skin	HP:0000958
3832	KIF11	Abnormal toenail morphology	HP:0008388
3832	KIF11	Upslanted palpebral fissure	HP:0000582
3832	KIF11	Chylothorax	HP:0010310
3832	KIF11	Broad nasal tip	HP:0000455
3832	KIF11	Venous thrombosis	HP:0004936
3832	KIF11	Agitation	HP:0000713
3832	KIF11	Panniculitis	HP:0012490
3832	KIF11	Subcutaneous nodule	HP:0001482
3832	KIF11	Aggressive behavior	HP:0000718
3832	KIF11	Myopic astigmatism	HP:0500041
3832	KIF11	Anteverted nares	HP:0000463
3832	KIF11	Deep philtrum	HP:0002002
3832	KIF11	Sloping forehead	HP:0000340
3832	KIF11	Prominent forehead	HP:0011220
3832	KIF11	Status epilepticus	HP:0002133
3832	KIF11	Long philtrum	HP:0000343
3832	KIF11	Thin upper lip vermilion	HP:0000219
3832	KIF11	Flat occiput	HP:0005469
3832	KIF11	Atrial septal defect	HP:0001631
3832	KIF11	Muscle stiffness	HP:0003552
3832	KIF11	Intellectual disability	HP:0001249
3832	KIF11	Seizures	HP:0001250
3832	KIF11	Microcornea	HP:0000482
3832	KIF11	Muscular hypotonia	HP:0001252
3832	KIF11	Abnormal nasolacrimal system morphology	HP:0000614
3832	KIF11	Intellectual disability, mild	HP:0001256
3832	KIF11	Retinopathy	HP:0000488
3832	KIF11	Spasticity	HP:0001257
3832	KIF11	Lymphoma	HP:0002665
3832	KIF11	Skin ulcer	HP:0200042
3832	KIF11	Attention deficit hyperactivity disorder	HP:0007018
3832	KIF11	Blindness	HP:0000618
3832	KIF11	Lymphedema	HP:0001004
3832	KIF11	Downslanted palpebral fissures	HP:0000494
3832	KIF11	Reduced visual acuity	HP:0007663
3832	KIF11	Global developmental delay	HP:0001263
3832	KIF11	Abnormal eyelash morphology	HP:0000499
3832	KIF11	Retinal fold	HP:0008052
3832	KIF11	Variable expressivity	HP:0003828
3832	KIF11	Incomplete penetrance	HP:0003829
3832	KIF11	Glaucoma	HP:0000501
3832	KIF11	Leukemia	HP:0001909
3832	KIF11	Microcephaly	HP:0000252
3832	KIF11	Ptosis	HP:0000508
3832	KIF11	Scaling skin	HP:0040189
3832	KIF11	Nystagmus	HP:0000639
3835	KIF22	Delayed phalangeal epiphyseal ossification	HP:0006016
3835	KIF22	Macrocephaly	HP:0000256
3835	KIF22	Posterior scalloping of vertebral bodies	HP:0005121
3835	KIF22	Autosomal dominant inheritance	HP:0000006
3835	KIF22	Slender distal phalanx of finger	HP:0012296
3835	KIF22	Slender proximal phalanx of finger	HP:0012297
3835	KIF22	Caudal interpedicular narrowing	HP:0008457
3835	KIF22	Generalized hypotonia	HP:0001290
3835	KIF22	Dislocated radial head	HP:0003083
3835	KIF22	Long distal phalanx of finger	HP:0012299
3835	KIF22	Hip dislocation	HP:0002827
3835	KIF22	Malar flattening	HP:0000272
3835	KIF22	Large joint dislocations	HP:0005008
3835	KIF22	Enlarged thorax	HP:0100625
3835	KIF22	Hypoplasia of the capital femoral epiphysis	HP:0003090
3835	KIF22	Midface retrusion	HP:0011800
3835	KIF22	Genu varum	HP:0002970
3835	KIF22	Platyspondyly	HP:0000926
3835	KIF22	Depressed nasal bridge	HP:0005280
3835	KIF22	Micromelia	HP:0002983
3835	KIF22	Genu valgum	HP:0002857
3835	KIF22	Flat capital femoral epiphysis	HP:0003370
3835	KIF22	Laryngotracheomalacia	HP:0008755
3835	KIF22	Delayed patellar ossification	HP:0006454
3835	KIF22	Joint hyperflexibility	HP:0005692
3835	KIF22	Spinal dysraphism	HP:0010301
3835	KIF22	Wide nose	HP:0000445
3835	KIF22	Laryngeal stenosis	HP:0001602
3835	KIF22	Osteoarthritis	HP:0002758
3835	KIF22	Flared metaphysis	HP:0003015
3835	KIF22	Abnormal calcification of the carpal bones	HP:0009164
3835	KIF22	Anteverted nares	HP:0000463
3835	KIF22	Metaphyseal irregularity	HP:0003025
3835	KIF22	Soft skin	HP:0000977
3835	KIF22	Irregular epiphyses	HP:0010582
3835	KIF22	Short neck	HP:0000470
3835	KIF22	Frontal bossing	HP:0002007
3835	KIF22	Small epiphyses	HP:0010585
3835	KIF22	Scoliosis	HP:0002650
3835	KIF22	Carpal bone hypoplasia	HP:0001498
3835	KIF22	Spondyloepimetaphyseal dysplasia	HP:0002651
3835	KIF22	Skeletal dysplasia	HP:0002652
3835	KIF22	Slender metacarpals	HP:0006236
3835	KIF22	Congenital hip dislocation	HP:0001374
3835	KIF22	Short stature	HP:0004322
3835	KIF22	Pes planus	HP:0001763
3835	KIF22	Streaky metaphyseal sclerosis	HP:0005092
3835	KIF22	Muscular hypotonia	HP:0001252
3835	KIF22	Irregular vertebral endplates	HP:0003301
3835	KIF22	Abnormality of the patella	HP:0003045
3835	KIF22	Broad distal phalanx of finger	HP:0009836
3835	KIF22	Joint laxity	HP:0001388
3835	KIF22	Long proximal phalanx of finger	HP:0006127
3835	KIF22	Global developmental delay	HP:0001263
3835	KIF22	Low-set ears	HP:0000369
3835	KIF22	Narrow femoral neck	HP:0008819
3835	KIF22	Abnormal sacrum morphology	HP:0005107
3835	KIF22	Nail dysplasia	HP:0002164
3835	KIF22	Kyphosis	HP:0002808
3835	KIF22	Short nose	HP:0003196
3845	KRAS	Hemangioma	HP:0001028
3845	KRAS	Autosomal dominant inheritance	HP:0000006
3845	KRAS	Autosomal recessive inheritance	HP:0000007
3845	KRAS	Proptosis	HP:0000520
3845	KRAS	Overgrowth	HP:0001548
3845	KRAS	Abnormality of the bladder	HP:0000014
3845	KRAS	Rigidity	HP:0002063
3845	KRAS	Chronic atrophic gastritis	HP:0002582
3845	KRAS	Monocytosis	HP:0012311
3845	KRAS	Midface retrusion	HP:0011800
3845	KRAS	Cavernous hemangioma	HP:0001048
3845	KRAS	Polyhydramnios	HP:0001561
3845	KRAS	Cryptorchidism	HP:0000028
3845	KRAS	Migraine	HP:0002076
3845	KRAS	Nevus flammeus	HP:0001052
3845	KRAS	Myopia	HP:0000545
3845	KRAS	Urinary tract neoplasm	HP:0010786
3845	KRAS	Hyperphosphaturia	HP:0003109
3845	KRAS	Hemimegalencephaly	HP:0007206
3845	KRAS	Epispadias	HP:0000039
3845	KRAS	Hypogonadotrophic hypogonadism	HP:0000044
3845	KRAS	Pulmonary arterial hypertension	HP:0002092
3845	KRAS	Laryngeal hypoplasia	HP:0008749
3845	KRAS	Extrahepatic cholestasis	HP:0012334
3845	KRAS	Redundant skin	HP:0001582
3845	KRAS	Deep palmar crease	HP:0006191
3845	KRAS	Hypospadias	HP:0000047
3845	KRAS	Microphthalmia	HP:0000568
3845	KRAS	Joint hyperflexibility	HP:0005692
3845	KRAS	Alopecia	HP:0001596
3845	KRAS	Nevus sebaceous	HP:0010815
3845	KRAS	Linear nevus sebaceous	HP:0010817
3845	KRAS	Pancreatic adenocarcinoma	HP:0006725
3845	KRAS	Blepharophimosis	HP:0000581
3845	KRAS	Abnormality of the ureter	HP:0000069
3845	KRAS	Ventriculomegaly	HP:0002119
3845	KRAS	Cerebral cortical atrophy	HP:0002120
3845	KRAS	Coloboma	HP:0000589
3845	KRAS	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
3845	KRAS	Scaphocephaly	HP:0030799
3845	KRAS	Transitional cell carcinoma of the bladder	HP:0006740
3845	KRAS	Porencephalic cyst	HP:0002132
3845	KRAS	Horseshoe kidney	HP:0000085
3845	KRAS	Premature birth	HP:0001622
3845	KRAS	Abnormal pyramidal sign	HP:0007256
3845	KRAS	Scoliosis	HP:0002650
3845	KRAS	Ophthalmoplegia	HP:0000602
3845	KRAS	Fatigue	HP:0012378
3845	KRAS	Skeletal dysplasia	HP:0002652
3845	KRAS	Abnormal platelet function	HP:0011869
3845	KRAS	Ventricular septal defect	HP:0001629
3845	KRAS	Atrial septal defect	HP:0001631
3845	KRAS	Mitral valve prolapse	HP:0001634
3845	KRAS	Abnormal hair quantity	HP:0011362
3845	KRAS	Visual field defect	HP:0001123
3845	KRAS	Iris coloboma	HP:0000612
3845	KRAS	Abnormal nasolacrimal system morphology	HP:0000614
3845	KRAS	Hypertrophic cardiomyopathy	HP:0001639
3845	KRAS	Abnormal pulmonary valve morphology	HP:0001641
3845	KRAS	Lymphoma	HP:0002665
3845	KRAS	Pulmonic stenosis	HP:0001642
3845	KRAS	Patent ductus arteriosus	HP:0001643
3845	KRAS	Basal cell carcinoma	HP:0002671
3845	KRAS	Clinodactyly of the 5th finger	HP:0004209
3845	KRAS	Eyelid coloboma	HP:0000625
3845	KRAS	Low posterior hairline	HP:0002162
3845	KRAS	Aortic valve stenosis	HP:0001650
3845	KRAS	Limbal dermoid	HP:0001140
3845	KRAS	Aplasia of the semicircular canal	HP:0011381
3845	KRAS	Abnormal heart valve morphology	HP:0001654
3845	KRAS	Short nose	HP:0003196
3845	KRAS	Long palpebral fissure	HP:0000637
3845	KRAS	Hydronephrosis	HP:0000126
3845	KRAS	Nystagmus	HP:0000639
3845	KRAS	Functional intestinal obstruction	HP:0005249
3845	KRAS	Brachydactyly	HP:0001156
3845	KRAS	Optic atrophy	HP:0000648
3845	KRAS	Abnormality of finger	HP:0001167
3845	KRAS	Chronic fatigue	HP:0012432
3845	KRAS	Coarctation of aorta	HP:0001680
3845	KRAS	Lymphadenopathy	HP:0002716
3845	KRAS	Recurrent respiratory infections	HP:0002205
3845	KRAS	Coarse hair	HP:0002208
3845	KRAS	Depressed nasal bridge	HP:0005280
3845	KRAS	Sporadic	HP:0003745
3845	KRAS	Hypoplastic nasal bridge	HP:0005281
3845	KRAS	Underdeveloped supraorbital ridges	HP:0009891
3845	KRAS	Curly hair	HP:0002212
3845	KRAS	Fine hair	HP:0002213
3845	KRAS	Feeding difficulties in infancy	HP:0008872
3845	KRAS	Tricuspid valve prolapse	HP:0001704
3845	KRAS	Follicular hyperplasia	HP:0002729
3845	KRAS	Slow-growing hair	HP:0002217
3845	KRAS	Decreased lymphocyte apoptosis	HP:0002731
3845	KRAS	Absent eyebrow	HP:0002223
3845	KRAS	Cleft palate	HP:0000175
3845	KRAS	Submucous cleft hard palate	HP:0000176
3845	KRAS	Thick lower lip vermilion	HP:0000179
3845	KRAS	Short palm	HP:0004279
3845	KRAS	Capillary hemangioma	HP:0005306
3845	KRAS	Delayed skeletal maturation	HP:0002750
3845	KRAS	Neoplasm of the thyroid gland	HP:0100031
3845	KRAS	Kyphoscoliosis	HP:0002751
3845	KRAS	Gastrointestinal hemorrhage	HP:0002239
3845	KRAS	Hepatomegaly	HP:0002240
3845	KRAS	Aplasia/Hypoplasia of the cerebellum	HP:0007360
3845	KRAS	Feeding difficulties	HP:0011968
3845	KRAS	Recurrent fractures	HP:0002757
3845	KRAS	Dystrophic fingernails	HP:0008391
3845	KRAS	Acute myeloid leukemia	HP:0004808
3845	KRAS	Exocrine pancreatic insufficiency	HP:0001738
3845	KRAS	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
3845	KRAS	Asymmetric growth	HP:0100555
3845	KRAS	Aganglionic megacolon	HP:0002251
3845	KRAS	Abnormal cartilage morphology	HP:0002763
3845	KRAS	Cleft upper lip	HP:0000204
3845	KRAS	Depressivity	HP:0000716
3845	KRAS	Intermittent diarrhea	HP:0002254
3845	KRAS	Abnormality of the spleen	HP:0001743
3845	KRAS	Splenomegaly	HP:0001744
3845	KRAS	High palate	HP:0000218
3845	KRAS	Cardiac diverticulum	HP:0100571
3845	KRAS	Atrial septal dilatation	HP:0011995
3845	KRAS	Excessive wrinkled skin	HP:0007392
3845	KRAS	Intellectual disability	HP:0001249
3845	KRAS	Irritability	HP:0000737
3845	KRAS	Amaurosis fugax	HP:0100576
3845	KRAS	Short stature	HP:0004322
3845	KRAS	Seizures	HP:0001250
3845	KRAS	Hallucinations	HP:0000738
3845	KRAS	Anxiety	HP:0000739
3845	KRAS	Muscular hypotonia	HP:0001252
3845	KRAS	Ovarian carcinoma	HP:0025318
3845	KRAS	Irregular hyperpigmentation	HP:0007400
3845	KRAS	Spasticity	HP:0001257
3845	KRAS	Dysarthria	HP:0001260
3845	KRAS	Osteolysis	HP:0002797
3845	KRAS	Hydrocephalus	HP:0000238
3845	KRAS	Global developmental delay	HP:0001263
3845	KRAS	Peritoneal abscess	HP:0100592
3845	KRAS	Abnormality of toe	HP:0001780
3845	KRAS	Hemiparesis	HP:0001269
3845	KRAS	Agenesis of corpus callosum	HP:0001274
3845	KRAS	Brittle hair	HP:0002299
3845	KRAS	Hypertonia	HP:0001276
3845	KRAS	Osteochondrosis	HP:0040188
3845	KRAS	Mutism	HP:0002300
3845	KRAS	Hemiplegia	HP:0002301
3845	KRAS	Pectus excavatum	HP:0000767
3845	KRAS	Pectus carinatum	HP:0000768
3845	KRAS	Macrocephaly	HP:0000256
3845	KRAS	Genu recurvatum	HP:0002816
3845	KRAS	Death in early adulthood	HP:0100613
3845	KRAS	Ovarian neoplasm	HP:0100615
3845	KRAS	Gait disturbance	HP:0001288
3845	KRAS	Cranial asymmetry	HP:0000267
3845	KRAS	Prominent occiput	HP:0000269
3845	KRAS	Enlarged thorax	HP:0100625
3845	KRAS	Generalized hyperpigmentation	HP:0007440
3845	KRAS	Long face	HP:0000276
3845	KRAS	Corneal opacity	HP:0007957
3845	KRAS	Hemiplegia/hemiparesis	HP:0004374
3845	KRAS	Coarse facial features	HP:0000280
3845	KRAS	Dandy-Walker malformation	HP:0001305
3845	KRAS	Agnosia	HP:0010524
3845	KRAS	Epicanthus	HP:0000286
3845	KRAS	Dysgraphia	HP:0010526
3845	KRAS	Bone cyst	HP:0012062
3845	KRAS	Weight loss	HP:0001824
3845	KRAS	Echolalia	HP:0010529
3845	KRAS	Reduced tendon reflexes	HP:0001315
3845	KRAS	Intestinal pseudo-obstruction	HP:0004389
3845	KRAS	Full cheeks	HP:0000293
3845	KRAS	Genu valgum	HP:0002857
3845	KRAS	Poor appetite	HP:0004396
3845	KRAS	Muscle weakness	HP:0001324
3845	KRAS	Melanoma	HP:0002861
3845	KRAS	Hypophosphatemic rickets	HP:0004912
3845	KRAS	EEG abnormality	HP:0002353
3845	KRAS	Memory impairment	HP:0002354
3845	KRAS	Diabetes mellitus	HP:0000819
3845	KRAS	Absent septum pellucidum	HP:0001331
3845	KRAS	Abnormal dermatoglyphics	HP:0007477
3845	KRAS	Dyskinesia	HP:0100660
3845	KRAS	Dysphasia	HP:0002357
3845	KRAS	Precocious puberty	HP:0000826
3845	KRAS	Hypertelorism	HP:0000316
3845	KRAS	Pulmonary artery stenosis	HP:0004415
3845	KRAS	Abnormality of dental color	HP:0011073
3845	KRAS	Hyperreflexia	HP:0001347
3845	KRAS	Facial asymmetry	HP:0000324
3845	KRAS	Triangular face	HP:0000325
3845	KRAS	Biparietal narrowing	HP:0004422
3845	KRAS	Developmental regression	HP:0002376
3845	KRAS	Paresthesia	HP:0003401
3845	KRAS	Intestinal polyposis	HP:0200008
3845	KRAS	Plagiocephaly	HP:0001357
3845	KRAS	Pituitary adenoma	HP:0002893
3845	KRAS	Aphasia	HP:0002381
3845	KRAS	Neoplasm of the pancreas	HP:0002894
3845	KRAS	Neoplasm of the liver	HP:0002896
3845	KRAS	Broad forehead	HP:0000337
3845	KRAS	Abnormality of dental morphology	HP:0006482
3845	KRAS	Neutropenia	HP:0001875
3845	KRAS	Pancytopenia	HP:0001876
3845	KRAS	Hemolytic anemia	HP:0001878
3845	KRAS	Long philtrum	HP:0000343
3845	KRAS	Back pain	HP:0003418
3845	KRAS	Sagittal craniosynostosis	HP:0004442
3845	KRAS	Micrognathia	HP:0000347
3845	KRAS	Flexion contracture	HP:0001371
3845	KRAS	Interrupted aortic arch	HP:0011611
3845	KRAS	High forehead	HP:0000348
3845	KRAS	Elevated hepatic transaminase	HP:0002910
3845	KRAS	Stomach cancer	HP:0012126
3845	KRAS	Vertebral segmentation defect	HP:0003422
3845	KRAS	Abnormal bleeding	HP:0001892
3845	KRAS	Posteriorly rotated ears	HP:0000358
3845	KRAS	Cerebral arteriovenous malformation	HP:0002408
3845	KRAS	Attention deficit hyperactivity disorder	HP:0007018
3845	KRAS	Hearing impairment	HP:0000365
3845	KRAS	Low-set, posteriorly rotated ears	HP:0000368
3845	KRAS	Low-set ears	HP:0000369
3845	KRAS	Leukemia	HP:0001909
3845	KRAS	Alveolar cell carcinoma	HP:0006519
3845	KRAS	Hepatocellular carcinoma	HP:0001402
3845	KRAS	Subcortical cerebral atrophy	HP:0012157
3845	KRAS	Neoplasm of the skeletal system	HP:0010622
3845	KRAS	Ichthyosis	HP:0008064
3845	KRAS	Aplasia/Hypoplasia of the skin	HP:0008065
3845	KRAS	Sparse hair	HP:0008070
3845	KRAS	Neoplasm of the rectum	HP:0100743
3845	KRAS	Thickened helices	HP:0000391
3845	KRAS	Abnormality of coagulation	HP:0001928
3845	KRAS	Multiple cafe-au-lait spots	HP:0007565
3845	KRAS	Tetraplegia	HP:0002445
3845	KRAS	Craniofacial hyperostosis	HP:0004493
3845	KRAS	Glioblastoma multiforme	HP:0012174
3845	KRAS	Paralysis	HP:0003470
3845	KRAS	Macrotia	HP:0000400
3845	KRAS	Heterogeneous	HP:0001425
3845	KRAS	Lymphoproliferative disorder	HP:0005523
3845	KRAS	Somatic mutation	HP:0001428
3845	KRAS	Peripheral axonal neuropathy	HP:0003477
3845	KRAS	Sensorineural hearing impairment	HP:0000407
3845	KRAS	Cubitus valgus	HP:0002967
3845	KRAS	Visceral angiomatosis	HP:0100761
3845	KRAS	Hepatosplenomegaly	HP:0001433
3845	KRAS	Arrhythmia	HP:0011675
3845	KRAS	Radioulnar synostosis	HP:0002974
3845	KRAS	Somatic mosaicism	HP:0001442
3845	KRAS	Sparse or absent eyelashes	HP:0200102
3845	KRAS	Lipodystrophy	HP:0009125
3845	KRAS	Osteopenia	HP:0000938
3845	KRAS	Hypoplasia of the zygomatic bone	HP:0010669
3845	KRAS	Functional abnormality of the gastrointestinal tract	HP:0012719
3845	KRAS	Dysostosis multiplex	HP:0000943
3845	KRAS	Juvenile myelomonocytic leukemia	HP:0012209
3845	KRAS	Autoimmune thrombocytopenia	HP:0001973
3845	KRAS	Abnormality of the ulna	HP:0002997
3845	KRAS	Jaundice	HP:0000952
3845	KRAS	Breast carcinoma	HP:0003002
3845	KRAS	Colon cancer	HP:0003003
3845	KRAS	Dry skin	HP:0000958
3845	KRAS	Neuroblastoma	HP:0003006
3845	KRAS	Short palpebral fissure	HP:0012745
3845	KRAS	Subcutaneous nodule	HP:0001482
3845	KRAS	Increased antibody level in blood	HP:0010702
3845	KRAS	Hyperextensible skin	HP:0000974
3845	KRAS	Anteverted nares	HP:0000463
3845	KRAS	Abnormal facial shape	HP:0001999
3845	KRAS	Webbed neck	HP:0000465
3845	KRAS	Wide intermamillary distance	HP:0006610
3845	KRAS	Cerebral calcification	HP:0002514
3845	KRAS	Increased intracranial pressure	HP:0002516
3845	KRAS	Increased level of L-fucose in urine	HP:0410067
3845	KRAS	Short neck	HP:0000470
3845	KRAS	Palmoplantar keratoderma	HP:0000982
3845	KRAS	Frontal bossing	HP:0002007
3845	KRAS	Abnormality of cardiovascular system morphology	HP:0030680
3845	KRAS	Thickened nuchal skin fold	HP:0000474
3845	KRAS	Lymphocytosis	HP:0100827
3845	KRAS	Cystic hygroma	HP:0000476
3845	KRAS	Xanthomatosis	HP:0000991
3845	KRAS	Muscle stiffness	HP:0003552
3845	KRAS	Nausea and vomiting	HP:0002017
3845	KRAS	Benign neoplasm of the central nervous system	HP:0100835
3845	KRAS	Melanocytic nevus	HP:0000995
3845	KRAS	Constipation	HP:0002019
3845	KRAS	Failure to thrive	HP:0001508
3845	KRAS	Strabismus	HP:0000486
3845	KRAS	Growth delay	HP:0001510
3845	KRAS	Malabsorption	HP:0002024
3845	KRAS	Retinopathy	HP:0000488
3845	KRAS	Aplasia/Hypoplasia of the eyebrow	HP:0100840
3845	KRAS	Abdominal pain	HP:0002027
3845	KRAS	Multiple lentigines	HP:0001003
3845	KRAS	Lymphedema	HP:0001004
3845	KRAS	Downslanted palpebral fissures	HP:0000494
3845	KRAS	Hypopigmentation of the skin	HP:0001010
3845	KRAS	Death in infancy	HP:0001522
3845	KRAS	Abnormal eyelash morphology	HP:0000499
3845	KRAS	Multiple lipomas	HP:0001012
3845	KRAS	Anorexia	HP:0002039
3845	KRAS	Abnormality of vision	HP:0000504
3845	KRAS	Adenoma sebaceum	HP:0009720
3845	KRAS	Hemihypertrophy	HP:0001528
3845	KRAS	Telecanthus	HP:0000506
3845	KRAS	Failure to thrive in infancy	HP:0001531
3845	KRAS	Ptosis	HP:0000508
3848	KRT1	Ichthyosis	HP:0008064
3848	KRT1	Abnormal blistering of the skin	HP:0008066
3848	KRT1	Eczema	HP:0000964
3848	KRT1	Epidermal acanthosis	HP:0025092
3848	KRT1	Autosomal dominant inheritance	HP:0000006
3848	KRT1	Localized epidermolytic hyperkeratosis	HP:0007559
3848	KRT1	Autosomal recessive inheritance	HP:0000007
3848	KRT1	Diffuse palmoplantar keratoderma	HP:0007435
3848	KRT1	Palmoplantar hyperkeratosis	HP:0000972
3848	KRT1	Increased circulating total IgE level	HP:0003212
3848	KRT1	Hyperhidrosis	HP:0000975
3848	KRT1	Abnormal fingernail morphology	HP:0001231
3848	KRT1	Abnormality of metabolism/homeostasis	HP:0001939
3848	KRT1	Nail dystrophy	HP:0008404
3848	KRT1	Palmoplantar keratoderma	HP:0000982
3848	KRT1	Flexion contracture	HP:0001371
3848	KRT1	Erythema	HP:0010783
3848	KRT1	Cutaneous photosensitivity	HP:0000992
3848	KRT1	Weight loss	HP:0001824
3848	KRT1	Autoamputation of digits	HP:0007460
3848	KRT1	Verrucae	HP:0200043
3848	KRT1	Skin ulcer	HP:0200042
3848	KRT1	Nonepidermolytic palmoplantar keratoderma	HP:0007404
3848	KRT1	Poor appetite	HP:0004396
3848	KRT1	Recurrent skin infections	HP:0001581
3848	KRT1	Conjunctival hamartoma	HP:0100780
3848	KRT1	Bleeding with minor or no trauma	HP:0011889
3848	KRT1	Congenital bullous ichthyosiform erythroderma	HP:0007475
3848	KRT1	Abnormal hair morphology	HP:0001595
3848	KRT1	Erythroderma	HP:0001019
3848	KRT1	Abnormality of the nail	HP:0001597
3848	KRT1	Scaling skin	HP:0040189
3849	KRT2	Ichthyosis	HP:0008064
3849	KRT2	Abnormal blistering of the skin	HP:0008066
3849	KRT2	Congenital bullous ichthyosiform erythroderma	HP:0007475
3849	KRT2	Thin skin	HP:0000963
3849	KRT2	Autosomal dominant inheritance	HP:0000006
3849	KRT2	Palmoplantar keratoderma	HP:0000982
3849	KRT2	Acantholysis	HP:0100792
3849	KRT2	Edema	HP:0000969
3849	KRT2	Erythema	HP:0010783
167691	LCA5	Abnormal electroretinogram	HP:0000512
167691	LCA5	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
167691	LCA5	Intellectual disability	HP:0001249
167691	LCA5	Seizures	HP:0001250
167691	LCA5	Encephalocele	HP:0002084
167691	LCA5	Muscular hypotonia	HP:0001252
167691	LCA5	Undetectable electroretinogram	HP:0000550
167691	LCA5	Cataract	HP:0000518
167691	LCA5	Autosomal recessive inheritance	HP:0000007
167691	LCA5	Hearing impairment	HP:0000365
167691	LCA5	Global developmental delay	HP:0001263
167691	LCA5	Keratoconus	HP:0000563
167691	LCA5	Severely reduced visual acuity	HP:0001141
167691	LCA5	Hemiplegia/hemiparesis	HP:0004374
167691	LCA5	Abnormality of retinal pigmentation	HP:0007703
167691	LCA5	Visual impairment	HP:0000505
167691	LCA5	Abnormality of the optic disc	HP:0012795
167691	LCA5	Hypermetropia	HP:0000540
167691	LCA5	Abnormality of neuronal migration	HP:0002269
167691	LCA5	Nystagmus	HP:0000639
3850	KRT3	Nonprogressive	HP:0003680
3850	KRT3	Punctate opacification of the cornea	HP:0007856
3850	KRT3	Photophobia	HP:0000613
3850	KRT3	Epiphora	HP:0009926
3850	KRT3	Autosomal dominant inheritance	HP:0000006
3850	KRT3	Corneal dystrophy	HP:0001131
3850	KRT3	Reduced visual acuity	HP:0007663
3851	KRT4	Abnormality of metabolism/homeostasis	HP:0001939
3851	KRT4	Autosomal dominant inheritance	HP:0000006
3851	KRT4	Oral leukoplakia	HP:0002745
3852	KRT5	Abnormal blistering of the skin	HP:0008066
3852	KRT5	Reticulated skin pigmentation	HP:0007427
3852	KRT5	Autosomal dominant inheritance	HP:0000006
3852	KRT5	Autosomal recessive inheritance	HP:0000007
3852	KRT5	Onychogryposis	HP:0001805
3852	KRT5	Subcutaneous hemorrhage	HP:0001933
3852	KRT5	Mottled pigmentation of the trunk and proximal extremities	HP:0007438
3852	KRT5	Ridged nail	HP:0001807
3852	KRT5	Fatigable weakness	HP:0003473
3852	KRT5	Palmoplantar blistering	HP:0007446
3852	KRT5	Hypopigmented skin patches	HP:0001053
3852	KRT5	Erythema	HP:0010783
3852	KRT5	Progressive reticulate hyperpigmentation	HP:0007456
3852	KRT5	Milia	HP:0001056
3852	KRT5	Oral mucosal blisters	HP:0200097
3852	KRT5	Neonatal onset	HP:0003623
3852	KRT5	Abnormality of dental enamel	HP:0000682
3852	KRT5	Respiratory insufficiency	HP:0002093
3852	KRT5	Recurrent skin infections	HP:0001581
3852	KRT5	Atrophic scars	HP:0001075
3852	KRT5	Oral leukoplakia	HP:0002745
3852	KRT5	Hyperpigmentation of the skin	HP:0000953
3852	KRT5	Abnormality of the nail	HP:0001597
3852	KRT5	Feeding difficulties	HP:0011968
3852	KRT5	Hyperkeratosis	HP:0000962
3852	KRT5	Discrete 2 to 5-mm hyper- and hypopigmented macules	HP:0007494
3852	KRT5	Prematurely aged appearance	HP:0007495
3852	KRT5	Palmoplantar hyperkeratosis	HP:0000972
3852	KRT5	Hyperhidrosis	HP:0000975
3852	KRT5	Bruising susceptibility	HP:0000978
3852	KRT5	Squamous cell carcinoma of the skin	HP:0006739
3852	KRT5	Nail dystrophy	HP:0008404
3852	KRT5	Ophthalmoparesis	HP:0000597
3852	KRT5	Palmoplantar keratoderma	HP:0000982
3852	KRT5	Generalized hyperkeratosis	HP:0005595
3852	KRT5	Skin rash	HP:0000988
3852	KRT5	Constipation	HP:0002019
3852	KRT5	Failure to thrive	HP:0001508
3852	KRT5	Skin vesicle	HP:0200037
3852	KRT5	Growth delay	HP:0001510
3852	KRT5	Abnormality of skin pigmentation	HP:0001000
3852	KRT5	Abnormal pattern of respiration	HP:0002793
3852	KRT5	Punctate palmoplantar hyperkeratosis	HP:0007530
3852	KRT5	Dermal atrophy	HP:0004334
3852	KRT5	Hypopigmentation of the skin	HP:0001010
3852	KRT5	Variable expressivity	HP:0003828
3852	KRT5	Nail dysplasia	HP:0002164
3852	KRT5	Congenital onset	HP:0003577
3852	KRT5	Ptosis	HP:0000508
3853	KRT6A	Ichthyosis	HP:0008064
3853	KRT6A	Hepatomegaly	HP:0002240
3853	KRT6A	Laryngomalacia	HP:0001601
3853	KRT6A	Abnormal blistering of the skin	HP:0008066
3853	KRT6A	Plantar hyperkeratosis	HP:0007556
3853	KRT6A	Anonychia	HP:0001798
3853	KRT6A	Cataract	HP:0000518
3853	KRT6A	Onychogryposis	HP:0001805
3853	KRT6A	Palmar hyperkeratosis	HP:0010765
3853	KRT6A	Hyperhidrosis	HP:0000975
3853	KRT6A	Abnormal fingernail morphology	HP:0001231
3853	KRT6A	Onychogryposis of toenails	HP:0008401
3853	KRT6A	Nail dystrophy	HP:0008404
3853	KRT6A	Palmoplantar keratoderma	HP:0000982
3853	KRT6A	Furrowed tongue	HP:0000221
3853	KRT6A	Carious teeth	HP:0000670
3853	KRT6A	Skin plaque	HP:0200035
3853	KRT6A	Abnormality of nail color	HP:0100643
3853	KRT6A	Gingivitis	HP:0000230
3853	KRT6A	Corneal dystrophy	HP:0001131
3853	KRT6A	Epidermoid cyst	HP:0200040
3853	KRT6A	Respiratory insufficiency	HP:0002093
3853	KRT6A	Chapped lip	HP:0040181
3853	KRT6A	Oral leukoplakia	HP:0002745
3853	KRT6A	Alopecia	HP:0001596
3853	KRT6A	Cognitive impairment	HP:0100543
3854	KRT6B	Ichthyosis	HP:0008064
3854	KRT6B	Hepatomegaly	HP:0002240
3854	KRT6B	Skin plaque	HP:0200035
3854	KRT6B	Laryngomalacia	HP:0001601
3854	KRT6B	Abnormal blistering of the skin	HP:0008066
3854	KRT6B	Abnormality of nail color	HP:0100643
3854	KRT6B	Steatocystoma multiplex	HP:0012035
3854	KRT6B	Anonychia	HP:0001798
3854	KRT6B	Cataract	HP:0000518
3854	KRT6B	Autosomal dominant inheritance	HP:0000006
3854	KRT6B	Corneal dystrophy	HP:0001131
3854	KRT6B	Epidermoid cyst	HP:0200040
3854	KRT6B	Respiratory insufficiency	HP:0002093
3854	KRT6B	Onychogryposis	HP:0001805
3854	KRT6B	Hyperhidrosis	HP:0000975
3854	KRT6B	Abnormal fingernail morphology	HP:0001231
3854	KRT6B	Nail dystrophy	HP:0008404
3854	KRT6B	Palmoplantar keratoderma	HP:0000982
3854	KRT6B	Oral leukoplakia	HP:0002745
3854	KRT6B	Alopecia	HP:0001596
3854	KRT6B	Cognitive impairment	HP:0100543
3854	KRT6B	Carious teeth	HP:0000670
3857	KRT9	Eczema	HP:0000964
3857	KRT9	Autosomal dominant inheritance	HP:0000006
3857	KRT9	Palmoplantar keratoderma	HP:0000982
3857	KRT9	Localized epidermolytic hyperkeratosis	HP:0007559
3857	KRT9	Verrucae	HP:0200043
3857	KRT9	Palmoplantar hyperkeratosis	HP:0000972
3857	KRT9	Increased circulating total IgE level	HP:0003212
3857	KRT9	Hyperhidrosis	HP:0000975
3857	KRT9	Abnormal fingernail morphology	HP:0001231
3857	KRT9	Erythema	HP:0010783
3858	KRT10	Cutaneous photosensitivity	HP:0000992
3858	KRT10	Weight loss	HP:0001824
3858	KRT10	Clubbing	HP:0001217
3858	KRT10	Abnormal blistering of the skin	HP:0008066
3858	KRT10	Epidermal acanthosis	HP:0025092
3858	KRT10	Autosomal dominant inheritance	HP:0000006
3858	KRT10	Hypertrichosis	HP:0000998
3858	KRT10	Autosomal recessive inheritance	HP:0000007
3858	KRT10	Skin ulcer	HP:0200042
3858	KRT10	Palmoplantar hyperkeratosis	HP:0000972
3858	KRT10	Poor appetite	HP:0004396
3858	KRT10	Conjunctival hamartoma	HP:0100780
3858	KRT10	Congenital bullous ichthyosiform erythroderma	HP:0007475
3858	KRT10	Palmoplantar keratoderma	HP:0000982
3858	KRT10	Erythroderma	HP:0001019
3858	KRT10	Scaling skin	HP:0040189
3858	KRT10	Erythema	HP:0010783
3859	KRT12	Nonprogressive	HP:0003680
3859	KRT12	Punctate opacification of the cornea	HP:0007856
3859	KRT12	Photophobia	HP:0000613
3859	KRT12	Epiphora	HP:0009926
3859	KRT12	Autosomal dominant inheritance	HP:0000006
3859	KRT12	Corneal dystrophy	HP:0001131
3859	KRT12	Reduced visual acuity	HP:0007663
3860	KRT13	Epidermal acanthosis	HP:0025092
3860	KRT13	Autosomal dominant inheritance	HP:0000006
3860	KRT13	Edema	HP:0000969
3860	KRT13	Hyperparakeratosis	HP:0040009
3861	KRT14	Ichthyosis	HP:0008064
3861	KRT14	Abnormal blistering of the skin	HP:0008066
3861	KRT14	Reticulated skin pigmentation	HP:0007427
3861	KRT14	Autosomal dominant inheritance	HP:0000006
3861	KRT14	Autosomal recessive inheritance	HP:0000007
3861	KRT14	Diffuse palmoplantar keratoderma	HP:0007435
3861	KRT14	Onychogryposis	HP:0001805
3861	KRT14	Subcutaneous hemorrhage	HP:0001933
3861	KRT14	Ridged nail	HP:0001807
3861	KRT14	Fragile nails	HP:0001808
3861	KRT14	Fatigable weakness	HP:0003473
3861	KRT14	Dystrophic toenail	HP:0001810
3861	KRT14	Palmoplantar blistering	HP:0007446
3861	KRT14	Hypoplasia of dental enamel	HP:0006297
3861	KRT14	Hypopigmented skin patches	HP:0001053
3861	KRT14	Carious teeth	HP:0000670
3861	KRT14	Adermatoglyphia	HP:0007455
3861	KRT14	Milia	HP:0001056
3861	KRT14	Oral mucosal blisters	HP:0200097
3861	KRT14	Reticular hyperpigmentation	HP:0007588
3861	KRT14	Neonatal onset	HP:0003623
3861	KRT14	Abnormality of dental enamel	HP:0000682
3861	KRT14	Respiratory insufficiency	HP:0002093
3861	KRT14	Recurrent skin infections	HP:0001581
3861	KRT14	Atrophic scars	HP:0001075
3861	KRT14	Oral leukoplakia	HP:0002745
3861	KRT14	Hyperpigmentation of the skin	HP:0000953
3861	KRT14	Abnormality of the nail	HP:0001597
3861	KRT14	Feeding difficulties	HP:0011968
3861	KRT14	Hyperkeratosis	HP:0000962
3861	KRT14	Hypohidrosis	HP:0000966
3861	KRT14	Prematurely aged appearance	HP:0007495
3861	KRT14	Dystrophic fingernails	HP:0008391
3861	KRT14	Ectodermal dysplasia	HP:0000968
3861	KRT14	Palmoplantar hyperkeratosis	HP:0000972
3861	KRT14	Hyperhidrosis	HP:0000975
3861	KRT14	Premature loss of teeth	HP:0006480
3861	KRT14	Bruising susceptibility	HP:0000978
3861	KRT14	Squamous cell carcinoma of the skin	HP:0006739
3861	KRT14	Nail dystrophy	HP:0008404
3861	KRT14	Ophthalmoparesis	HP:0000597
3861	KRT14	Palmoplantar keratoderma	HP:0000982
3861	KRT14	Generalized hyperkeratosis	HP:0005595
3861	KRT14	Constipation	HP:0002019
3861	KRT14	Failure to thrive	HP:0001508
3861	KRT14	Growth delay	HP:0001510
3861	KRT14	Skin vesicle	HP:0200037
3861	KRT14	Abnormal pattern of respiration	HP:0002793
3861	KRT14	Dermal atrophy	HP:0004334
3861	KRT14	Anemia	HP:0001903
3861	KRT14	Hypopigmentation of the skin	HP:0001010
3861	KRT14	Reticulate pigmentation of oral mucosa	HP:0012788
3861	KRT14	Variable expressivity	HP:0003828
3861	KRT14	Nail dysplasia	HP:0002164
3861	KRT14	Alopecia of scalp	HP:0002293
3861	KRT14	Abnormal conjunctiva morphology	HP:0000502
3861	KRT14	Congenital onset	HP:0003577
3861	KRT14	Ptosis	HP:0000508
3861	KRT14	Heat intolerance	HP:0002046
3861	KRT14	Hypohidrosis or hyperhidrosis	HP:0007550
3868	KRT16	Ichthyosis	HP:0008064
3868	KRT16	Hepatomegaly	HP:0002240
3868	KRT16	Laryngomalacia	HP:0001601
3868	KRT16	Abnormal blistering of the skin	HP:0008066
3868	KRT16	Eczema	HP:0000964
3868	KRT16	Anonychia	HP:0001798
3868	KRT16	Cataract	HP:0000518
3868	KRT16	Autosomal dominant inheritance	HP:0000006
3868	KRT16	Localized epidermolytic hyperkeratosis	HP:0007559
3868	KRT16	Palmoplantar hyperkeratosis	HP:0000972
3868	KRT16	Onychogryposis	HP:0001805
3868	KRT16	Follicular hyperkeratosis	HP:0007502
3868	KRT16	Hyperhidrosis	HP:0000975
3868	KRT16	Abnormal fingernail morphology	HP:0001231
3868	KRT16	Heterogeneous	HP:0001425
3868	KRT16	Nail dystrophy	HP:0008404
3868	KRT16	Palmoplantar keratoderma	HP:0000982
3868	KRT16	Carious teeth	HP:0000670
3868	KRT16	Erythema	HP:0010783
3868	KRT16	Skin plaque	HP:0200035
3868	KRT16	Abnormality of nail color	HP:0100643
3868	KRT16	Verrucae	HP:0200043
3868	KRT16	Corneal dystrophy	HP:0001131
3868	KRT16	Epidermoid cyst	HP:0200040
3868	KRT16	Respiratory insufficiency	HP:0002093
3868	KRT16	Oral leukoplakia	HP:0002745
3868	KRT16	Alopecia	HP:0001596
3868	KRT16	Cognitive impairment	HP:0100543
3872	KRT17	Ichthyosis	HP:0008064
3872	KRT17	Hepatomegaly	HP:0002240
3872	KRT17	Laryngomalacia	HP:0001601
3872	KRT17	Abnormal blistering of the skin	HP:0008066
3872	KRT17	Steatocystoma multiplex	HP:0012035
3872	KRT17	Anonychia	HP:0001798
3872	KRT17	Cataract	HP:0000518
3872	KRT17	Autosomal dominant inheritance	HP:0000006
3872	KRT17	Subungual hyperkeratosis	HP:0008392
3872	KRT17	Hoarse voice	HP:0001609
3872	KRT17	Palmoplantar hyperkeratosis	HP:0000972
3872	KRT17	Onychogryposis	HP:0001805
3872	KRT17	Hyperhidrosis	HP:0000975
3872	KRT17	Abnormal fingernail morphology	HP:0001231
3872	KRT17	Heterogeneous	HP:0001425
3872	KRT17	Nephrolithiasis	HP:0000787
3872	KRT17	Nail dystrophy	HP:0008404
3872	KRT17	Palmoplantar keratoderma	HP:0000982
3872	KRT17	Sparse and thin eyebrow	HP:0000535
3872	KRT17	Carious teeth	HP:0000670
3872	KRT17	Dry hair	HP:0011359
3872	KRT17	Skin plaque	HP:0200035
3872	KRT17	Sparse scalp hair	HP:0002209
3872	KRT17	Abnormality of nail color	HP:0100643
3872	KRT17	Corneal dystrophy	HP:0001131
3872	KRT17	Epidermoid cyst	HP:0200040
3872	KRT17	Respiratory insufficiency	HP:0002093
3872	KRT17	Palmoplantar hyperhidrosis	HP:0007410
3872	KRT17	Nail dysplasia	HP:0002164
3872	KRT17	Natal tooth	HP:0000695
3872	KRT17	Adenoma sebaceum	HP:0009720
3872	KRT17	Oral leukoplakia	HP:0002745
3872	KRT17	Alopecia	HP:0001596
3872	KRT17	Folliculitis	HP:0025084
3872	KRT17	Cognitive impairment	HP:0100543
3875	KRT18	Micronodular cirrhosis	HP:0001413
3875	KRT18	Abdominal distention	HP:0003270
3875	KRT18	Lethargy	HP:0001254
3875	KRT18	Autosomal dominant inheritance	HP:0000006
3875	KRT18	Autosomal recessive inheritance	HP:0000007
3875	KRT18	Pulmonary arterial hypertension	HP:0002092
3875	KRT18	Increased antibody level in blood	HP:0010702
3875	KRT18	Cirrhosis	HP:0001394
3875	KRT18	Increased level of propylene glycol in blood	HP:0410069
3875	KRT18	Increased level of L-fucose in urine	HP:0410067
3875	KRT18	Hypertension	HP:0000822
3875	KRT18	Jaundice	HP:0000952
3875	KRT18	Esophageal varix	HP:0002040
3875	KRT18	Fever	HP:0001945
3875	KRT18	Chronic active hepatitis	HP:0200120
93986	FOXP2	Incomprehensible speech	HP:0002546
93986	FOXP2	Oromotor apraxia	HP:0007301
93986	FOXP2	Autosomal dominant inheritance	HP:0000006
93986	FOXP2	Abnormality of the basal ganglia	HP:0002134
93986	FOXP2	Delayed speech and language development	HP:0000750
93986	FOXP2	Abnormality of the face	HP:0000271
3887	KRT81	Intellectual disability	HP:0001249
3887	KRT81	Abnormality of the dentition	HP:0000164
3887	KRT81	Fine hair	HP:0002213
3887	KRT81	Cataract	HP:0000518
3887	KRT81	Autosomal dominant inheritance	HP:0000006
3887	KRT81	Slow-growing hair	HP:0002217
3887	KRT81	Infantile onset	HP:0003593
3887	KRT81	Perifollicular hyperkeratosis	HP:0007468
3887	KRT81	Follicular hyperkeratosis	HP:0007502
3887	KRT81	Hypotrichosis	HP:0001006
3887	KRT81	Schizophrenia	HP:0100753
3887	KRT81	Heterogeneous	HP:0001425
3887	KRT81	Abnormal eyelash morphology	HP:0000499
3887	KRT81	Nail dystrophy	HP:0008404
3887	KRT81	Nail dysplasia	HP:0002164
3887	KRT81	Variable expressivity	HP:0003828
3887	KRT81	Abnormal eyebrow morphology	HP:0000534
3887	KRT81	Patchy alopecia	HP:0002232
3887	KRT81	Keratosis pilaris	HP:0032152
3887	KRT81	Brittle hair	HP:0002299
3887	KRT81	Alopecia	HP:0001596
3887	KRT81	Abnormality of the nail	HP:0001597
3887	KRT81	Cognitive impairment	HP:0100543
3889	KRT83	Cataract	HP:0000518
3889	KRT83	Autosomal dominant inheritance	HP:0000006
3889	KRT83	Infantile onset	HP:0003593
3889	KRT83	Palmoplantar hyperkeratosis	HP:0000972
3889	KRT83	Follicular hyperkeratosis	HP:0007502
3889	KRT83	Schizophrenia	HP:0100753
3889	KRT83	Heterogeneous	HP:0001425
3889	KRT83	Nail dystrophy	HP:0008404
3889	KRT83	Abnormal eyebrow morphology	HP:0000534
3889	KRT83	Palmoplantar keratoderma	HP:0000982
3889	KRT83	Keratosis pilaris	HP:0032152
3889	KRT83	Erythema	HP:0010783
3889	KRT83	Skin plaque	HP:0200035
3889	KRT83	Intellectual disability	HP:0001249
3889	KRT83	Abnormality of the dentition	HP:0000164
3889	KRT83	Fine hair	HP:0002213
3889	KRT83	Slow-growing hair	HP:0002217
3889	KRT83	Perifollicular hyperkeratosis	HP:0007468
3889	KRT83	Hypotrichosis	HP:0001006
3889	KRT83	Abnormal eyelash morphology	HP:0000499
3889	KRT83	Nail dysplasia	HP:0002164
3889	KRT83	Variable expressivity	HP:0003828
3889	KRT83	Patchy alopecia	HP:0002232
3889	KRT83	Brittle hair	HP:0002299
3889	KRT83	Alopecia	HP:0001596
3889	KRT83	Abnormality of the nail	HP:0001597
3889	KRT83	Cognitive impairment	HP:0100543
3891	KRT85	Pili torti	HP:0003777
3891	KRT85	Autosomal dominant inheritance	HP:0000006
3891	KRT85	Autosomal recessive inheritance	HP:0000007
3891	KRT85	Congenital onychodystrophy	HP:0008394
3891	KRT85	Hair-nail ectodermal dysplasia	HP:0007436
3891	KRT85	Temporal hypotrichosis	HP:0004524
3891	KRT85	Onycholysis	HP:0001806
3891	KRT85	Absent eyebrow	HP:0002223
3891	KRT85	Absent eyelashes	HP:0000561
3891	KRT85	Nail dystrophy	HP:0008404
3891	KRT85	Sparse body hair	HP:0002231
3891	KRT85	Brittle hair	HP:0002299
3891	KRT85	Alopecia	HP:0001596
3892	KRT86	Intellectual disability	HP:0001249
3892	KRT86	Abnormality of the dentition	HP:0000164
3892	KRT86	Fine hair	HP:0002213
3892	KRT86	Cataract	HP:0000518
3892	KRT86	Autosomal dominant inheritance	HP:0000006
3892	KRT86	Slow-growing hair	HP:0002217
3892	KRT86	Infantile onset	HP:0003593
3892	KRT86	Perifollicular hyperkeratosis	HP:0007468
3892	KRT86	Follicular hyperkeratosis	HP:0007502
3892	KRT86	Hypotrichosis	HP:0001006
3892	KRT86	Schizophrenia	HP:0100753
3892	KRT86	Heterogeneous	HP:0001425
3892	KRT86	Abnormal eyelash morphology	HP:0000499
3892	KRT86	Nail dystrophy	HP:0008404
3892	KRT86	Nail dysplasia	HP:0002164
3892	KRT86	Variable expressivity	HP:0003828
3892	KRT86	Abnormal eyebrow morphology	HP:0000534
3892	KRT86	Patchy alopecia	HP:0002232
3892	KRT86	Keratosis pilaris	HP:0032152
3892	KRT86	Brittle hair	HP:0002299
3892	KRT86	Alopecia	HP:0001596
3892	KRT86	Abnormality of the nail	HP:0001597
3892	KRT86	Cognitive impairment	HP:0100543
94005	PIGS	Pectus carinatum	HP:0000768
94005	PIGS	Hepatomegaly	HP:0002240
94005	PIGS	Preauricular skin tag	HP:0000384
94005	PIGS	Feeding difficulties	HP:0011968
94005	PIGS	Brachydactyly	HP:0001156
94005	PIGS	Fetal akinesia sequence	HP:0001989
94005	PIGS	Thickened helices	HP:0000391
94005	PIGS	Autosomal recessive inheritance	HP:0000007
94005	PIGS	Cerebral cortical atrophy	HP:0002120
94005	PIGS	Gait disturbance	HP:0001288
94005	PIGS	Generalized hypotonia	HP:0001290
94005	PIGS	Short chin	HP:0000331
94005	PIGS	Multiple joint contractures	HP:0002828
94005	PIGS	Short fourth metatarsal	HP:0004689
94005	PIGS	Deep philtrum	HP:0002002
94005	PIGS	Low alkaline phosphatase	HP:0003282
94005	PIGS	Elevated alkaline phosphatase	HP:0003155
94005	PIGS	Gingival overgrowth	HP:0000212
94005	PIGS	Vertical forehead creases	HP:0011221
94005	PIGS	Inguinal hernia	HP:0000023
94005	PIGS	Coarse facial features	HP:0000280
94005	PIGS	Short distal phalanx of finger	HP:0009882
94005	PIGS	Scoliosis	HP:0002650
94005	PIGS	Cryptorchidism	HP:0000028
94005	PIGS	Cystic hygroma	HP:0000476
94005	PIGS	Macroglossia	HP:0000158
94005	PIGS	Cerebral visual impairment	HP:0100704
94005	PIGS	Seizures	HP:0001250
94005	PIGS	Ataxia	HP:0001251
94005	PIGS	Constipation	HP:0002019
94005	PIGS	Posteriorly rotated ears	HP:0000358
94005	PIGS	Cardiomegaly	HP:0001640
94005	PIGS	Inability to walk	HP:0002540
94005	PIGS	Joint laxity	HP:0001388
94005	PIGS	Hearing impairment	HP:0000365
94005	PIGS	Widely spaced teeth	HP:0000687
94005	PIGS	Global developmental delay	HP:0001263
94005	PIGS	Clinodactyly of the 5th finger	HP:0004209
94005	PIGS	Variable expressivity	HP:0003828
94005	PIGS	Arthrogryposis multiplex congenita	HP:0002804
94005	PIGS	Cerebellar atrophy	HP:0001272
94005	PIGS	Highly arched eyebrow	HP:0002553
94005	PIGS	Single transverse palmar crease	HP:0000954
94005	PIGS	Short 4th metacarpal	HP:0010044
94005	PIGS	Microcephaly	HP:0000252
94005	PIGS	Nystagmus	HP:0000639
3897	L1CAM	Macrocephaly	HP:0000256
3897	L1CAM	Flexion contracture of thumb	HP:0009600
3897	L1CAM	Hyperreflexia	HP:0001347
3897	L1CAM	Ventriculomegaly	HP:0002119
3897	L1CAM	Gait disturbance	HP:0001288
3897	L1CAM	X-linked inheritance	HP:0001417
3897	L1CAM	Aganglionic megacolon	HP:0002251
3897	L1CAM	Camptodactyly of finger	HP:0100490
3897	L1CAM	X-linked recessive inheritance	HP:0001419
3897	L1CAM	Aphasia	HP:0002381
3897	L1CAM	Abnormal facial shape	HP:0001999
3897	L1CAM	Holoprosencephaly	HP:0001360
3897	L1CAM	Increased intracranial pressure	HP:0002516
3897	L1CAM	Hemiplegia/hemiparesis	HP:0004374
3897	L1CAM	Coarse facial features	HP:0000280
3897	L1CAM	Inferior vermis hypoplasia	HP:0007068
3897	L1CAM	Adducted thumb	HP:0001181
3897	L1CAM	Intellectual disability	HP:0001249
3897	L1CAM	Pes cavus	HP:0001761
3897	L1CAM	Seizures	HP:0001250
3897	L1CAM	Short stature	HP:0004322
3897	L1CAM	Talipes equinovarus	HP:0001762
3897	L1CAM	Hand clenching	HP:0001188
3897	L1CAM	Strabismus	HP:0000486
3897	L1CAM	Corticospinal tract hypoplasia	HP:0007016
3897	L1CAM	Cerebellar hypoplasia	HP:0001321
3897	L1CAM	Spasticity	HP:0001257
3897	L1CAM	Spastic paraplegia	HP:0001258
3897	L1CAM	Aqueductal stenosis	HP:0002410
3897	L1CAM	Joint stiffness	HP:0001387
3897	L1CAM	Hyperlordosis	HP:0003307
3897	L1CAM	Muscle weakness	HP:0001324
3897	L1CAM	Delayed speech and language development	HP:0000750
3897	L1CAM	Hydrocephalus	HP:0000238
3897	L1CAM	Intellectual disability, severe	HP:0010864
3897	L1CAM	Clinodactyly of the 5th finger	HP:0004209
3897	L1CAM	Absent septum pellucidum	HP:0001331
3897	L1CAM	Kyphosis	HP:0002808
3897	L1CAM	Agenesis of corpus callosum	HP:0001274
3897	L1CAM	Shuffling gait	HP:0002362
3897	L1CAM	Partial agenesis of the corpus callosum	HP:0001338
3897	L1CAM	Microcephaly	HP:0000252
3897	L1CAM	Nystagmus	HP:0000639
3908	LAMA2	EMG abnormality	HP:0003457
3908	LAMA2	Abnormality of the temporomandibular joint	HP:0010754
3908	LAMA2	Areflexia	HP:0001284
3908	LAMA2	Facial palsy	HP:0010628
3908	LAMA2	Cerebral edema	HP:0002181
3908	LAMA2	Autosomal recessive inheritance	HP:0000007
3908	LAMA2	Myositis	HP:0100614
3908	LAMA2	Gait disturbance	HP:0001288
3908	LAMA2	Abnormality of visual evoked potentials	HP:0000649
3908	LAMA2	Generalized hypotonia	HP:0001290
3908	LAMA2	Myopathic facies	HP:0002058
3908	LAMA2	Absent muscle fiber merosin	HP:0030091
3908	LAMA2	Intercostal muscle weakness	HP:0004878
3908	LAMA2	Astrocytosis	HP:0002446
3908	LAMA2	Atelectasis	HP:0100750
3908	LAMA2	Aspiration	HP:0002835
3908	LAMA2	Calf muscle hypertrophy	HP:0008981
3908	LAMA2	Pachygyria	HP:0001302
3908	LAMA2	Highly elevated creatine kinase	HP:0030234
3908	LAMA2	Arrhythmia	HP:0011675
3908	LAMA2	Congenital muscular dystrophy	HP:0003741
3908	LAMA2	Macroglossia	HP:0000158
3908	LAMA2	Reduced tendon reflexes	HP:0001315
3908	LAMA2	Elevated serum creatine kinase	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	Respiratory insufficiency due to muscle weakness	HP:0002747
3908	LAMA2	Cognitive impairment	HP:0100543
3908	LAMA2	Respiratory failure	HP:0002878
3908	LAMA2	Gowers sign	HP:0003391
3908	LAMA2	Hypointensity of cerebral white matter on MRI	HP:0007103
3908	LAMA2	Kyphoscoliosis	HP:0002751
3908	LAMA2	Focal-onset seizure	HP:0007359
3908	LAMA2	Increased connective tissue	HP:0009025
3908	LAMA2	Muscle spasm	HP:0003394
3908	LAMA2	Open mouth	HP:0000194
3908	LAMA2	Muscle fiber atrophy	HP:0100295
3908	LAMA2	Hypokinesia	HP:0002375
3908	LAMA2	Increased endomysial connective tissue	HP:0100297
3908	LAMA2	Absence seizure	HP:0002121
3908	LAMA2	Abnormal brainstem MRI signal intensity	HP:0012747
3908	LAMA2	Weak cry	HP:0001612
3908	LAMA2	Ophthalmoplegia	HP:0000602
3908	LAMA2	Scoliosis	HP:0002650
3908	LAMA2	Flexion contracture	HP:0001371
3908	LAMA2	Slow progression	HP:0003677
3908	LAMA2	Difficulty climbing stairs	HP:0003551
3908	LAMA2	Pontocerebellar atrophy	HP:0006879
3908	LAMA2	Dysphagia	HP:0002015
3908	LAMA2	Recurrent lower respiratory tract infections	HP:0002783
3908	LAMA2	Impaired mastication	HP:0005216
3908	LAMA2	Intellectual disability	HP:0001249
3908	LAMA2	Seizures	HP:0001250
3908	LAMA2	Muscular hypotonia	HP:0001252
3908	LAMA2	Gastroesophageal reflux	HP:0002020
3908	LAMA2	Decreased body weight	HP:0004325
3908	LAMA2	Sensorimotor neuropathy	HP:0007141
3908	LAMA2	Cardiomyopathy	HP:0001638
3908	LAMA2	Hypoventilation	HP:0002791
3908	LAMA2	Muscular dystrophy	HP:0003560
3908	LAMA2	Abnormal cortical gyration	HP:0002536
3908	LAMA2	Hyperlordosis	HP:0003307
3908	LAMA2	Inability to walk	HP:0002540
3908	LAMA2	Variable expressivity	HP:0003828
3908	LAMA2	Motor delay	HP:0001270
3908	LAMA2	Reduced ejection fraction	HP:0012664
3908	LAMA2	Congenital onset	HP:0003577
3909	LAMA3	Abnormal blistering of the skin	HP:0008066
3909	LAMA3	Plantar hyperkeratosis	HP:0007556
3909	LAMA3	Anonychia	HP:0001798
3909	LAMA3	Autosomal recessive inheritance	HP:0000007
3909	LAMA3	Infantile onset	HP:0003593
3909	LAMA3	Camptodactyly of finger	HP:0100490
3909	LAMA3	Junctional split	HP:0003341
3909	LAMA3	Onycholysis	HP:0001806
3909	LAMA3	Fragile nails	HP:0001808
3909	LAMA3	Heterogeneous	HP:0001425
3909	LAMA3	Dehydration	HP:0001944
3909	LAMA3	Hypoplasia of dental enamel	HP:0006297
3909	LAMA3	Paronychia	HP:0001818
3909	LAMA3	Hypodontia	HP:0000668
3909	LAMA3	Carious teeth	HP:0000670
3909	LAMA3	Milia	HP:0001056
3909	LAMA3	Narrow mouth	HP:0000160
3909	LAMA3	Aplasia cutis congenita	HP:0001057
3909	LAMA3	Oral mucosal blisters	HP:0200097
3909	LAMA3	Osteoporosis	HP:0000939
3909	LAMA3	Recurrent skin infections	HP:0001581
3909	LAMA3	Dyspnea	HP:0002094
3909	LAMA3	Atrophic scars	HP:0001075
3909	LAMA3	Sparse body hair	HP:0002231
3909	LAMA3	Ankyloglossia	HP:0010296
3909	LAMA3	Alopecia	HP:0001596
3909	LAMA3	Respiratory failure	HP:0002878
3909	LAMA3	Feeding difficulties	HP:0011968
3909	LAMA3	Amelogenesis imperfecta	HP:0000705
3909	LAMA3	Laryngeal stenosis	HP:0001602
3909	LAMA3	Recurrent loss of toenails and fingernails	HP:0008390
3909	LAMA3	Scarring alopecia of scalp	HP:0004552
3909	LAMA3	Palmar hyperhidrosis	HP:0006089
3909	LAMA3	Hoarse voice	HP:0001609
3909	LAMA3	Weak cry	HP:0001612
3909	LAMA3	Hoarse cry	HP:0001615
3909	LAMA3	Squamous cell carcinoma of the skin	HP:0006739
3909	LAMA3	Nail dystrophy	HP:0008404
3909	LAMA3	Palmoplantar keratoderma	HP:0000982
3909	LAMA3	Congenital localized absence of skin	HP:0007383
3909	LAMA3	Mitten deformity	HP:0004057
3909	LAMA3	Abnormality of the eye	HP:0000478
3909	LAMA3	Failure to thrive	HP:0001508
3909	LAMA3	Pyloric stenosis	HP:0002021
3909	LAMA3	Growth delay	HP:0001510
3909	LAMA3	Abnormality of skin pigmentation	HP:0001000
3909	LAMA3	Skin ulcer	HP:0200042
3909	LAMA3	Skin erosion	HP:0200041
3909	LAMA3	Dilated cardiomyopathy	HP:0001644
3909	LAMA3	Anemia	HP:0001903
3909	LAMA3	Laryngeal stridor	HP:0006511
3909	LAMA3	Death in infancy	HP:0001522
3909	LAMA3	Nail dysplasia	HP:0002164
3909	LAMA3	Congenital onset	HP:0003577
3909	LAMA3	Esophageal stricture	HP:0002043
3910	LAMA4	EMG abnormality	HP:0003457
3910	LAMA4	Abnormality of neutrophils	HP:0001874
3910	LAMA4	Lipoatrophy	HP:0100578
3910	LAMA4	Elevated serum creatine kinase	HP:0003236
3910	LAMA4	Palmoplantar keratoderma	HP:0000982
3910	LAMA4	Autosomal dominant inheritance	HP:0000006
3910	LAMA4	Sensorineural hearing impairment	HP:0000407
3910	LAMA4	Dilated cardiomyopathy	HP:0001644
3910	LAMA4	Myopathy	HP:0003198
3912	LAMB1	Macrocephaly	HP:0000256
3912	LAMB1	Intellectual disability	HP:0001249
3912	LAMB1	Seizures	HP:0001250
3912	LAMB1	Abnormality of the cerebral white matter	HP:0002500
3912	LAMB1	Occipital encephalocele	HP:0002085
3912	LAMB1	Cataract	HP:0000518
3912	LAMB1	Autosomal recessive inheritance	HP:0000007
3912	LAMB1	Optic atrophy	HP:0000648
3912	LAMB1	Cerebellar hypoplasia	HP:0001321
3912	LAMB1	Gray matter heterotopia	HP:0002282
3912	LAMB1	Spastic paraplegia	HP:0001258
3912	LAMB1	Generalized hypotonia	HP:0001290
3912	LAMB1	Psychomotor retardation	HP:0025356
3912	LAMB1	Hearing impairment	HP:0000365
3912	LAMB1	Hydrocephalus	HP:0000238
3912	LAMB1	Leukoencephalopathy	HP:0002352
3912	LAMB1	Severe global developmental delay	HP:0011344
3912	LAMB1	Variable expressivity	HP:0003828
3912	LAMB1	Porencephalic cyst	HP:0002132
3912	LAMB1	Progressive	HP:0003676
3912	LAMB1	Type II lissencephaly	HP:0007260
3912	LAMB1	Hypoplasia of the brainstem	HP:0002365
126792	B3GALT6	Macrocephaly	HP:0000256
126792	B3GALT6	Short femoral neck	HP:0100864
126792	B3GALT6	Soft, doughy skin	HP:0001027
126792	B3GALT6	Short iliac bones	HP:0100866
126792	B3GALT6	Fragile skin	HP:0001030
126792	B3GALT6	Short nail	HP:0001799
126792	B3GALT6	Autosomal recessive inheritance	HP:0000007
126792	B3GALT6	Proptosis	HP:0000520
126792	B3GALT6	Generalized hypotonia	HP:0001290
126792	B3GALT6	Dislocated radial head	HP:0003083
126792	B3GALT6	Hip dislocation	HP:0002827
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	Cryptorchidism	HP:0000028
126792	B3GALT6	Slender long bone	HP:0003100
126792	B3GALT6	Epicanthus	HP:0000286
126792	B3GALT6	Hallux valgus	HP:0001822
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	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	Flexion contracture	HP:0001371
126792	B3GALT6	Spondyloepimetaphyseal dysplasia	HP:0002651
126792	B3GALT6	Hip subluxation	HP:0030043
126792	B3GALT6	Micrognathia	HP:0000347
126792	B3GALT6	Skeletal dysplasia	HP:0002652
126792	B3GALT6	Ventricular septal defect	HP:0001629
126792	B3GALT6	Atrial septal defect	HP:0001631
126792	B3GALT6	Epiphyseal dysplasia	HP:0002656
126792	B3GALT6	Pulmonic stenosis	HP:0001642
126792	B3GALT6	Joint laxity	HP:0001388
126792	B3GALT6	Broad distal phalanx of finger	HP:0009836
126792	B3GALT6	11 pairs of ribs	HP:0000878
126792	B3GALT6	Bicuspid aortic valve	HP:0001647
126792	B3GALT6	Coxa valga	HP:0002673
126792	B3GALT6	Aortic valve stenosis	HP:0001650
126792	B3GALT6	Large iliac wings	HP:0008818
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	Osteopenia	HP:0000938
126792	B3GALT6	Radial bowing	HP:0002986
126792	B3GALT6	Osteoporosis	HP:0000939
126792	B3GALT6	Wide nasal bridge	HP:0000431
126792	B3GALT6	Cleft palate	HP:0000175
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	Metaphyseal widening	HP:0003016
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	Short stature	HP:0004322
126792	B3GALT6	Talipes equinovarus	HP:0001762
126792	B3GALT6	Elbow dislocation	HP:0003042
126792	B3GALT6	Pes planus	HP:0001763
126792	B3GALT6	Muscular hypotonia	HP:0001252
126792	B3GALT6	Ovoid vertebral bodies	HP:0003300
126792	B3GALT6	Irregular vertebral endplates	HP:0003301
126792	B3GALT6	Decreased body weight	HP:0004325
126792	B3GALT6	Gingivitis	HP:0000230
126792	B3GALT6	Carpal synostosis	HP:0009702
126792	B3GALT6	Abnormality of skin pigmentation	HP:0001000
126792	B3GALT6	Radial head subluxation	HP:0003048
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
3913	LAMB2	Skeletal muscle atrophy	HP:0003202
3913	LAMB2	Right ventricular hypertrophy	HP:0001667
3913	LAMB2	Slow pupillary light response	HP:0030211
3913	LAMB2	Hypoproteinemia	HP:0003075
3913	LAMB2	Areflexia	HP:0001284
3913	LAMB2	Facial palsy	HP:0010628
3913	LAMB2	Limited extraocular movements	HP:0007941
3913	LAMB2	Autosomal recessive inheritance	HP:0000007
3913	LAMB2	Generalized hypotonia	HP:0001290
3913	LAMB2	Microcoria	HP:0025492
3913	LAMB2	Distal muscle weakness	HP:0002460
3913	LAMB2	Hand muscle weakness	HP:0030237
3913	LAMB2	Myopia	HP:0000545
3913	LAMB2	Sleep apnea	HP:0010535
3913	LAMB2	Neonatal onset	HP:0003623
3913	LAMB2	Pulmonary arterial hypertension	HP:0002092
3913	LAMB2	Mandibular prognathia	HP:0000303
3913	LAMB2	Diffuse mesangial sclerosis	HP:0001967
3913	LAMB2	Respiratory distress	HP:0002098
3913	LAMB2	Frequent falls	HP:0002359
3913	LAMB2	Exertional dyspnea	HP:0002875
3913	LAMB2	Easy fatigability	HP:0003388
3913	LAMB2	Stage 5 chronic kidney disease	HP:0003774
3913	LAMB2	Edema	HP:0000969
3913	LAMB2	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
3913	LAMB2	Weak cry	HP:0001612
3913	LAMB2	Abnormal facial shape	HP:0001999
3913	LAMB2	Triangular mouth	HP:0000207
3913	LAMB2	Bilateral ptosis	HP:0001488
3913	LAMB2	Neonatal respiratory distress	HP:0002643
3913	LAMB2	Neck muscle weakness	HP:0000467
3913	LAMB2	Waddling gait	HP:0002515
3913	LAMB2	Ophthalmoparesis	HP:0000597
3913	LAMB2	Scoliosis	HP:0002650
3913	LAMB2	High palate	HP:0000218
3913	LAMB2	Abnormal enzyme/coenzyme activity	HP:0012379
3913	LAMB2	Type 1 muscle fiber predominance	HP:0003803
3913	LAMB2	Proteinuria	HP:0000093
3913	LAMB2	Hypoplasia of the ciliary body	HP:0007774
3913	LAMB2	Recurrent lower respiratory tract infections	HP:0002783
3913	LAMB2	Dysphagia	HP:0002015
3913	LAMB2	Impaired mastication	HP:0005216
3913	LAMB2	Intellectual disability	HP:0001249
3913	LAMB2	Type 2 muscle fiber atrophy	HP:0003554
3913	LAMB2	Talipes equinovarus	HP:0001762
3913	LAMB2	Muscular hypotonia	HP:0001252
3913	LAMB2	Nephrotic syndrome	HP:0000100
3913	LAMB2	Strabismus	HP:0000486
3913	LAMB2	Hypoventilation	HP:0002791
3913	LAMB2	Blindness	HP:0000618
3913	LAMB2	Scapular winging	HP:0003691
3913	LAMB2	Limited wrist extension	HP:0006251
3913	LAMB2	Prolonged miniature endplate currents	HP:0003436
3913	LAMB2	Posterior lenticonus	HP:0011502
3913	LAMB2	Global developmental delay	HP:0001263
3913	LAMB2	Poor suck	HP:0002033
3913	LAMB2	Hyporeflexia	HP:0001265
3913	LAMB2	Decreased size of nerve terminals	HP:0003443
3913	LAMB2	Proximal muscle weakness	HP:0003701
3913	LAMB2	Poor head control	HP:0002421
3913	LAMB2	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	HP:0030203
3913	LAMB2	Generalized muscle weakness	HP:0003324
3913	LAMB2	Hypoplasia of the iris	HP:0007676
3913	LAMB2	Myopathy	HP:0003198
3913	LAMB2	Axial muscle weakness	HP:0003327
3913	LAMB2	Abnormality of the knee	HP:0002815
3913	LAMB2	Nystagmus	HP:0000639
3914	LAMB3	Abnormal blistering of the skin	HP:0008066
3914	LAMB3	Plantar hyperkeratosis	HP:0007556
3914	LAMB3	Anonychia	HP:0001798
3914	LAMB3	Autosomal dominant inheritance	HP:0000006
3914	LAMB3	Autosomal recessive inheritance	HP:0000007
3914	LAMB3	Camptodactyly of finger	HP:0100490
3914	LAMB3	Junctional split	HP:0003341
3914	LAMB3	Onycholysis	HP:0001806
3914	LAMB3	Fragile nails	HP:0001808
3914	LAMB3	Heterogeneous	HP:0001425
3914	LAMB3	Dehydration	HP:0001944
3914	LAMB3	Hypoplasia of dental enamel	HP:0006297
3914	LAMB3	Paronychia	HP:0001818
3914	LAMB3	Hypodontia	HP:0000668
3914	LAMB3	Carious teeth	HP:0000670
3914	LAMB3	Milia	HP:0001056
3914	LAMB3	Narrow mouth	HP:0000160
3914	LAMB3	Aplasia cutis congenita	HP:0001057
3914	LAMB3	Oral mucosal blisters	HP:0200097
3914	LAMB3	Taurodontia	HP:0000679
3914	LAMB3	Generalized microdontia	HP:0006311
3914	LAMB3	Osteoporosis	HP:0000939
3914	LAMB3	Recurrent skin infections	HP:0001581
3914	LAMB3	Dyspnea	HP:0002094
3914	LAMB3	Atrophic scars	HP:0001075
3914	LAMB3	Sparse body hair	HP:0002231
3914	LAMB3	Ankyloglossia	HP:0010296
3914	LAMB3	Alopecia	HP:0001596
3914	LAMB3	Respiratory failure	HP:0002878
3914	LAMB3	Feeding difficulties	HP:0011968
3914	LAMB3	Amelogenesis imperfecta	HP:0000705
3914	LAMB3	Laryngeal stenosis	HP:0001602
3914	LAMB3	Scarring alopecia of scalp	HP:0004552
3914	LAMB3	Palmar hyperhidrosis	HP:0006089
3914	LAMB3	Hoarse voice	HP:0001609
3914	LAMB3	Squamous cell carcinoma of the skin	HP:0006739
3914	LAMB3	Nail dystrophy	HP:0008404
3914	LAMB3	Palmoplantar keratoderma	HP:0000982
3914	LAMB3	Congenital localized absence of skin	HP:0007383
3914	LAMB3	Mitten deformity	HP:0004057
3914	LAMB3	Failure to thrive	HP:0001508
3914	LAMB3	Pyloric stenosis	HP:0002021
3914	LAMB3	Growth delay	HP:0001510
3914	LAMB3	Abnormality of skin pigmentation	HP:0001000
3914	LAMB3	Skin erosion	HP:0200041
3914	LAMB3	Dilated cardiomyopathy	HP:0001644
3914	LAMB3	Anemia	HP:0001903
3914	LAMB3	Laryngeal stridor	HP:0006511
3914	LAMB3	Death in infancy	HP:0001522
3914	LAMB3	Nail dysplasia	HP:0002164
3914	LAMB3	Congenital onset	HP:0003577
3914	LAMB3	Esophageal stricture	HP:0002043
3918	LAMC2	Feeding difficulties	HP:0011968
3918	LAMC2	Abnormal blistering of the skin	HP:0008066
3918	LAMC2	Laryngeal stenosis	HP:0001602
3918	LAMC2	Plantar hyperkeratosis	HP:0007556
3918	LAMC2	Anonychia	HP:0001798
3918	LAMC2	Autosomal recessive inheritance	HP:0000007
3918	LAMC2	Scarring alopecia of scalp	HP:0004552
3918	LAMC2	Palmar hyperhidrosis	HP:0006089
3918	LAMC2	Hoarse voice	HP:0001609
3918	LAMC2	Camptodactyly of finger	HP:0100490
3918	LAMC2	Junctional split	HP:0003341
3918	LAMC2	Onycholysis	HP:0001806
3918	LAMC2	Fragile nails	HP:0001808
3918	LAMC2	Heterogeneous	HP:0001425
3918	LAMC2	Squamous cell carcinoma of the skin	HP:0006739
3918	LAMC2	Nail dystrophy	HP:0008404
3918	LAMC2	Palmoplantar keratoderma	HP:0000982
3918	LAMC2	Congenital localized absence of skin	HP:0007383
3918	LAMC2	Dehydration	HP:0001944
3918	LAMC2	Hypoplasia of dental enamel	HP:0006297
3918	LAMC2	Mitten deformity	HP:0004057
3918	LAMC2	Paronychia	HP:0001818
3918	LAMC2	Hypodontia	HP:0000668
3918	LAMC2	Carious teeth	HP:0000670
3918	LAMC2	Milia	HP:0001056
3918	LAMC2	Narrow mouth	HP:0000160
3918	LAMC2	Aplasia cutis congenita	HP:0001057
3918	LAMC2	Oral mucosal blisters	HP:0200097
3918	LAMC2	Failure to thrive	HP:0001508
3918	LAMC2	Pyloric stenosis	HP:0002021
3918	LAMC2	Growth delay	HP:0001510
3918	LAMC2	Abnormality of skin pigmentation	HP:0001000
3918	LAMC2	Skin erosion	HP:0200041
3918	LAMC2	Osteoporosis	HP:0000939
3918	LAMC2	Dilated cardiomyopathy	HP:0001644
3918	LAMC2	Recurrent skin infections	HP:0001581
3918	LAMC2	Dyspnea	HP:0002094
3918	LAMC2	Anemia	HP:0001903
3918	LAMC2	Laryngeal stridor	HP:0006511
3918	LAMC2	Death in infancy	HP:0001522
3918	LAMC2	Atrophic scars	HP:0001075
3918	LAMC2	Nail dysplasia	HP:0002164
3918	LAMC2	Sparse body hair	HP:0002231
3918	LAMC2	Ankyloglossia	HP:0010296
3918	LAMC2	Congenital onset	HP:0003577
3918	LAMC2	Esophageal stricture	HP:0002043
3918	LAMC2	Alopecia	HP:0001596
3918	LAMC2	Respiratory failure	HP:0002878
388939	PCARE	Abnormal electroretinogram	HP:0000512
388939	PCARE	Hyperreflexia	HP:0001347
388939	PCARE	Cataract	HP:0000518
388939	PCARE	Hypogonadism	HP:0000135
388939	PCARE	Autosomal recessive inheritance	HP:0000007
388939	PCARE	Optic atrophy	HP:0000648
388939	PCARE	Hyperinsulinemia	HP:0000842
388939	PCARE	Fundus atrophy	HP:0001099
388939	PCARE	Anteverted nares	HP:0000463
388939	PCARE	Conductive hearing impairment	HP:0000405
388939	PCARE	Nyctalopia	HP:0000662
388939	PCARE	Sensorineural hearing impairment	HP:0000407
388939	PCARE	Abnormality of retinal pigmentation	HP:0007703
388939	PCARE	Ophthalmoplegia	HP:0000602
388939	PCARE	Type II diabetes mellitus	HP:0005978
388939	PCARE	Atypical scarring of skin	HP:0000987
388939	PCARE	Hypoplasia of penis	HP:0008736
388939	PCARE	Intellectual disability	HP:0001249
388939	PCARE	Abnormal testis morphology	HP:0000035
388939	PCARE	Attenuation of retinal blood vessels	HP:0007843
388939	PCARE	Photophobia	HP:0000613
388939	PCARE	Obesity	HP:0001513
388939	PCARE	Blindness	HP:0000618
388939	PCARE	Abnormal retinal vascular morphology	HP:0008046
388939	PCARE	Wide nasal bridge	HP:0000431
388939	PCARE	Keratoconus	HP:0000563
388939	PCARE	Glaucoma	HP:0000501
388939	PCARE	Bone spicule pigmentation of the retina	HP:0007737
388939	PCARE	Visual impairment	HP:0000505
388939	PCARE	Progressive night blindness	HP:0007675
388939	PCARE	Rod-cone dystrophy	HP:0000510
388939	PCARE	Nystagmus	HP:0000639
3920	LAMP2	Intellectual disability	HP:0001249
3920	LAMP2	Pes cavus	HP:0001761
3920	LAMP2	EMG: myopathic abnormalities	HP:0003458
3920	LAMP2	Elevated serum creatine kinase	HP:0003236
3920	LAMP2	Myocardial necrosis	HP:0001700
3920	LAMP2	Hypertrophic cardiomyopathy	HP:0001639
3920	LAMP2	Hypokinesia	HP:0002375
3920	LAMP2	Gait disturbance	HP:0001288
3920	LAMP2	Cardiomegaly	HP:0001640
3920	LAMP2	Dilated cardiomyopathy	HP:0001644
3920	LAMP2	Cardiorespiratory arrest	HP:0006543
3920	LAMP2	X-linked dominant inheritance	HP:0001423
3920	LAMP2	Global developmental delay	HP:0001263
3920	LAMP2	Muscle flaccidity	HP:0010547
3920	LAMP2	Generalized amyotrophy	HP:0003700
3920	LAMP2	Wolff-Parkinson-White syndrome	HP:0001716
3920	LAMP2	Proximal muscle weakness	HP:0003701
3920	LAMP2	Myocardial fibrosis	HP:0001685
3920	LAMP2	Visual impairment	HP:0000505
3920	LAMP2	Exercise intolerance	HP:0003546
3920	LAMP2	Arrhythmia	HP:0011675
3920	LAMP2	Exercise-induced muscle cramps	HP:0003710
3920	LAMP2	Cognitive impairment	HP:0100543
3921	RPSA	Asplenia	HP:0001746
3921	RPSA	Abnormality of metabolism/homeostasis	HP:0001939
3921	RPSA	Autosomal dominant inheritance	HP:0000006
3921	RPSA	Thrombocytosis	HP:0001894
3921	RPSA	Autosomal recessive inheritance	HP:0000007
3921	RPSA	Infantile onset	HP:0003593
3921	RPSA	Abnormality of abdomen morphology	HP:0001438
3930	LBR	Macrocephaly	HP:0000256
3930	LBR	Umbilical hernia	HP:0001537
3930	LBR	Omphalocele	HP:0001539
3930	LBR	Palmar telangiectasia	HP:0100869
3930	LBR	Short ribs	HP:0000773
3930	LBR	Ascites	HP:0001541
3930	LBR	Narrow chest	HP:0000774
3930	LBR	Autosomal dominant inheritance	HP:0000006
3930	LBR	Intestinal malrotation	HP:0002566
3930	LBR	Autosomal recessive inheritance	HP:0000007
3930	LBR	Steatorrhea	HP:0002570
3930	LBR	Absent toenail	HP:0001802
3930	LBR	Hypoplastic fingernail	HP:0001804
3930	LBR	Abnormality of the scapula	HP:0000782
3930	LBR	Ulnar deviation of the hand	HP:0009487
3930	LBR	Malar flattening	HP:0000272
3930	LBR	Barrel-shaped chest	HP:0001552
3930	LBR	Generalized tonic-clonic seizures	HP:0002069
3930	LBR	Midface retrusion	HP:0011800
3930	LBR	Polyhydramnios	HP:0001561
3930	LBR	Hypoplastic vertebral bodies	HP:0008479
3930	LBR	Abnormal circulating cholesterol concentration	HP:0003107
3930	LBR	Postaxial foot polydactyly	HP:0001830
3930	LBR	Pulmonary hypoplasia	HP:0002089
3930	LBR	Respiratory insufficiency	HP:0002093
3930	LBR	Laryngeal calcification	HP:0008754
3930	LBR	Biliary cirrhosis	HP:0002613
3930	LBR	Abnormal lung lobation	HP:0002101
3930	LBR	Short 3rd metacarpal	HP:0010041
3930	LBR	Abnormality of the orbital region	HP:0000315
3930	LBR	Hypertelorism	HP:0000316
3930	LBR	Short 4th metacarpal	HP:0010044
3930	LBR	Sandal gap	HP:0001852
3930	LBR	Sclerodactyly	HP:0011838
3930	LBR	Short 5th metacarpal	HP:0010047
3930	LBR	Foot dorsiflexor weakness	HP:0009027
3930	LBR	Abnormality of the vertebral spinous processes	HP:0008516
3930	LBR	Hypoplasia of the maxilla	HP:0000327
3930	LBR	Keratoconjunctivitis sicca	HP:0001097
3930	LBR	Short phalanx of finger	HP:0009803
3930	LBR	Encephalitis	HP:0002383
3930	LBR	Thrombocytopenia	HP:0001873
3930	LBR	Calvarial skull defect	HP:0001362
3930	LBR	Neutropenia	HP:0001875
3930	LBR	Elevated alkaline phosphatase	HP:0003155
3930	LBR	Lethal skeletal dysplasia	HP:0005716
3930	LBR	Bowing of the long bones	HP:0006487
3930	LBR	Abnormal joint morphology	HP:0001367
3930	LBR	Hyperbilirubinemia	HP:0002904
3930	LBR	Abnormal leukocyte morphology	HP:0001881
3930	LBR	Arthritis	HP:0001369
3930	LBR	Fatigue	HP:0012378
3930	LBR	Micrognathia	HP:0000347
3930	LBR	Lower limb hyperreflexia	HP:0002395
3930	LBR	High forehead	HP:0000348
3930	LBR	Ventricular septal defect	HP:0001629
3930	LBR	Elevated hepatic transaminase	HP:0002910
3930	LBR	Upper limb undergrowth	HP:0009824
3930	LBR	Abnormality of chromosome segregation	HP:0002916
3930	LBR	Cardiomegaly	HP:0001640
3930	LBR	Skin ulcer	HP:0200042
3930	LBR	Giant platelets	HP:0001902
3930	LBR	11 pairs of ribs	HP:0000878
3930	LBR	Horizontal sacrum	HP:0003440
3930	LBR	Low-set ears	HP:0000369
3930	LBR	Cirrhosis	HP:0001394
3930	LBR	Lichenification	HP:0100725
3930	LBR	Long clavicles	HP:0000890
3930	LBR	Brachydactyly	HP:0001156
3930	LBR	Sclerosis of skull base	HP:0002694
3930	LBR	Postaxial hand polydactyly	HP:0001162
3930	LBR	Median cleft palate	HP:0009099
3930	LBR	Broad palm	HP:0001169
3930	LBR	Abnormal pelvis bone ossification	HP:0009106
3930	LBR	Recurrent otitis media	HP:0000403
3930	LBR	Abnormal ossification involving the femoral head and neck	HP:0009107
3930	LBR	Bone marrow hypocellularity	HP:0005528
3930	LBR	Hepatosplenomegaly	HP:0001433
3930	LBR	Fever	HP:0001945
3930	LBR	Pleural effusion	HP:0002202
3930	LBR	Diaphyseal thickening	HP:0005019
3930	LBR	Platyspondyly	HP:0000926
3930	LBR	Pancreatic islet-cell hyperplasia	HP:0004510
3930	LBR	Epiphyseal stippling	HP:0010655
3930	LBR	Hepatic calcification	HP:0006559
3930	LBR	Depressed nasal bridge	HP:0005280
3930	LBR	Raynaud phenomenon	HP:0030880
3930	LBR	Patchy variation in bone mineral density	HP:0010659
3930	LBR	Abnormality of the dentition	HP:0000164
3930	LBR	Micromelia	HP:0002983
3930	LBR	Disproportionate short-limb short stature	HP:0008873
3930	LBR	Abnormality of the calcaneus	HP:0008364
3930	LBR	Short diaphyses	HP:0000941
3930	LBR	Mild short stature	HP:0003502
3930	LBR	Calcinosis cutis	HP:0025520
3930	LBR	Calcinosis	HP:0003761
3930	LBR	Abnormal foot bone ossification	HP:0010675
3930	LBR	Misalignment of teeth	HP:0000692
3930	LBR	Hyposegmentation of neutrophil nuclei	HP:0011447
3930	LBR	Jaundice	HP:0000952
3930	LBR	Severe short-limb dwarfism	HP:0008890
3930	LBR	Extramedullary hematopoiesis	HP:0001978
3930	LBR	Gastrointestinal hemorrhage	HP:0002239
3930	LBR	Hepatomegaly	HP:0002240
3930	LBR	Eczema	HP:0000964
3930	LBR	Flared metaphysis	HP:0003015
3930	LBR	Abnormality of the gastric mucosa	HP:0004295
3930	LBR	Rhizomelia	HP:0008905
3930	LBR	Polydactyly	HP:0010442
3930	LBR	Metaphyseal cupping	HP:0003021
3930	LBR	Splenomegaly	HP:0001744
3930	LBR	Mesomelia	HP:0003027
3930	LBR	Prominent forehead	HP:0011220
3930	LBR	Gingival overgrowth	HP:0000212
3930	LBR	Lip telangiectasia	HP:0000214
3930	LBR	Frontal bossing	HP:0002007
3930	LBR	Abnormally ossified vertebrae	HP:0100569
3930	LBR	Xerostomia	HP:0000217
3930	LBR	Anterior rib punctate calcifications	HP:0006619
3930	LBR	Cystic hygroma	HP:0000476
3930	LBR	Skin rash	HP:0000988
3930	LBR	Pruritus	HP:0000989
3930	LBR	Multiple prenatal fractures	HP:0005855
3930	LBR	Dysphagia	HP:0002015
3930	LBR	Pes cavus	HP:0001761
3930	LBR	Intellectual disability	HP:0001249
3930	LBR	Mucosal telangiectasiae	HP:0100579
3930	LBR	Neonatal death	HP:0003811
3930	LBR	Tracheal calcification	HP:0002787
3930	LBR	Failure to thrive	HP:0001508
3930	LBR	Punctate vertebral calcifications	HP:0008420
3930	LBR	Gastroesophageal reflux	HP:0002020
3930	LBR	Scleroderma	HP:0100324
3930	LBR	Strabismus	HP:0000486
3930	LBR	Telangiectasia of the skin	HP:0100585
3930	LBR	Irregular hyperpigmentation	HP:0007400
3930	LBR	Decreased skull ossification	HP:0004331
3930	LBR	Severe hydrops fetalis	HP:0005099
3930	LBR	Lymphedema	HP:0001004
3930	LBR	Sternal punctate calcifications	HP:0006637
3930	LBR	Lower limb hypertonia	HP:0006895
3930	LBR	Global developmental delay	HP:0001263
3930	LBR	Stillbirth	HP:0003826
3930	LBR	Supernumerary vertebral ossification centers	HP:0004598
3930	LBR	Absent or minimally ossified vertebral bodies	HP:0004599
3930	LBR	Kyphosis	HP:0002808
3930	LBR	Preeclampsia	HP:0100602
3930	LBR	Nonimmune hydrops fetalis	HP:0001790
3930	LBR	Myalgia	HP:0003326
3931	LCAT	Hepatomegaly	HP:0002240
3931	LCAT	Decreased HDL cholesterol concentration	HP:0003233
3931	LCAT	Increased VLDL cholesterol concentration	HP:0003362
3931	LCAT	Foam cells	HP:0003651
3931	LCAT	Increased LDL cholesterol concentration	HP:0003141
3931	LCAT	Autosomal recessive inheritance	HP:0000007
3931	LCAT	Normochromic anemia	HP:0001895
3931	LCAT	Hypertriglyceridemia	HP:0002155
3931	LCAT	Opacification of the corneal stroma	HP:0007759
3931	LCAT	Splenomegaly	HP:0001744
3931	LCAT	Angina pectoris	HP:0001681
3931	LCAT	Renal insufficiency	HP:0000083
3931	LCAT	Corneal opacity	HP:0007957
3931	LCAT	Hemolytic anemia	HP:0001878
3931	LCAT	Visual impairment	HP:0000505
3931	LCAT	Lymphadenopathy	HP:0002716
3931	LCAT	Proteinuria	HP:0000093
3931	LCAT	Atherosclerosis	HP:0002621
3932	LCK	Autoimmunity	HP:0002960
3932	LCK	Immunodeficiency	HP:0002721
3932	LCK	Failure to thrive	HP:0001508
3932	LCK	Autosomal recessive inheritance	HP:0000007
3932	LCK	Infantile onset	HP:0003593
3932	LCK	Panniculitis	HP:0012490
3932	LCK	Recurrent respiratory infections	HP:0002205
3932	LCK	Diarrhea	HP:0002014
3932	LCK	Decreased proportion of CD4-positive T cells	HP:0005407
28514	DLL1	Short philtrum	HP:0000322
28514	DLL1	EMG: myopathic abnormalities	HP:0003458
28514	DLL1	Hemangioma	HP:0001028
28514	DLL1	Choanal atresia	HP:0000453
28514	DLL1	Duodenal atresia	HP:0002247
28514	DLL1	Maternal diabetes	HP:0009800
28514	DLL1	Anteverted nares	HP:0000463
28514	DLL1	Holoprosencephaly	HP:0001360
28514	DLL1	Midnasal stenosis	HP:0010644
28514	DLL1	Premature birth	HP:0001622
28514	DLL1	Hypotelorism	HP:0000601
28514	DLL1	Scoliosis	HP:0002650
28514	DLL1	Hypoplasia of penis	HP:0008736
28514	DLL1	Intellectual disability	HP:0001249
28514	DLL1	Short stature	HP:0004322
28514	DLL1	Seizures	HP:0001250
28514	DLL1	Iris coloboma	HP:0000612
28514	DLL1	Tetralogy of Fallot	HP:0001636
28514	DLL1	Strabismus	HP:0000486
28514	DLL1	Panhypopituitarism	HP:0000871
28514	DLL1	Intrauterine growth retardation	HP:0001511
28514	DLL1	Renal agenesis	HP:0000104
28514	DLL1	Single median maxillary incisor	HP:0006315
28514	DLL1	Cleft palate	HP:0000175
28514	DLL1	Asthma	HP:0002099
28514	DLL1	Tented upper lip vermilion	HP:0010804
28514	DLL1	Hypothyroidism	HP:0000821
28514	DLL1	Cyclopia	HP:0009914
28514	DLL1	Agenesis of corpus callosum	HP:0001274
28514	DLL1	Short nose	HP:0003196
28514	DLL1	Microcephaly	HP:0000252
28514	DLL1	Narrow nasal bridge	HP:0000446
28514	DLL1	Ambiguous genitalia	HP:0000062
3938	LCT	Lactose intolerance	HP:0004789
3938	LCT	Metabolic acidosis	HP:0001942
3938	LCT	Autosomal recessive inheritance	HP:0000007
3938	LCT	Dehydration	HP:0001944
3938	LCT	Decreased small intestinal mucosa lactase activity	HP:0025130
3938	LCT	Diarrhea	HP:0002014
3939	LDHA	Muscle stiffness	HP:0003552
3939	LDHA	Myoglobinuria	HP:0002913
3939	LDHA	Rhabdomyolysis	HP:0003201
3939	LDHA	Muscle spasm	HP:0003394
3939	LDHA	Elevated serum creatine kinase	HP:0003236
3939	LDHA	Juvenile onset	HP:0003621
3939	LDHA	Autosomal recessive inheritance	HP:0000007
3939	LDHA	Increased serum lactate	HP:0002151
3939	LDHA	Rigidity	HP:0002063
3939	LDHA	Renal insufficiency	HP:0000083
3939	LDHA	Increased serum pyruvate	HP:0003542
3939	LDHA	Exercise intolerance	HP:0003546
3939	LDHA	Myalgia	HP:0003326
388962	BOLA3	Hepatomegaly	HP:0002240
388962	BOLA3	Seizures	HP:0001250
388962	BOLA3	Ataxia	HP:0001251
388962	BOLA3	Epileptic encephalopathy	HP:0200134
388962	BOLA3	Lethargy	HP:0001254
388962	BOLA3	Hypertrophic cardiomyopathy	HP:0001639
388962	BOLA3	Autosomal recessive inheritance	HP:0000007
388962	BOLA3	Developmental regression	HP:0002376
388962	BOLA3	Optic atrophy	HP:0000648
388962	BOLA3	Infantile onset	HP:0003593
388962	BOLA3	Spasticity	HP:0001257
388962	BOLA3	Generalized hypotonia	HP:0001290
388962	BOLA3	Dilated cardiomyopathy	HP:0001644
388962	BOLA3	Decreased activity of mitochondrial respiratory chain	HP:0008972
388962	BOLA3	Global developmental delay	HP:0001263
388962	BOLA3	Leukodystrophy	HP:0002415
388962	BOLA3	Death in infancy	HP:0001522
388962	BOLA3	Poor head control	HP:0002421
388962	BOLA3	Abnormality of extrapyramidal motor function	HP:0002071
388962	BOLA3	Lactic acidosis	HP:0003128
388962	BOLA3	Myoclonus	HP:0001336
388962	BOLA3	Visual impairment	HP:0000505
388962	BOLA3	Vomiting	HP:0002013
388962	BOLA3	Respiratory failure	HP:0002878
3949	LDLR	Precocious atherosclerosis	HP:0004416
3949	LDLR	Renal artery stenosis	HP:0001920
3949	LDLR	Heart murmur	HP:0030148
3949	LDLR	Increased LDL cholesterol concentration	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 dysfunction	HP:0005162
3949	LDLR	Sudden cardiac death	HP:0001645
3949	LDLR	Aortic atherosclerotic lesion	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	Myocardial infarction	HP:0001658
3949	LDLR	Tendon xanthomatosis	HP:0010874
3949	LDLR	Corneal arcus	HP:0001084
3949	LDLR	Premature coronary artery atherosclerosis	HP:0005181
3952	LEP	Abnormal eating behavior	HP:0100738
3952	LEP	Gynecomastia	HP:0000771
3952	LEP	Recurrent pneumonia	HP:0006532
3952	LEP	Autosomal recessive inheritance	HP:0000007
3952	LEP	Hypogonadism	HP:0000135
3952	LEP	Hyperinsulinemia	HP:0000842
3952	LEP	Primary amenorrhea	HP:0000786
3952	LEP	Hypoplasia of the ovary	HP:0008724
3952	LEP	Decreased serum estradiol	HP:0008214
3952	LEP	Decreased serum leptin	HP:0003292
3952	LEP	Decreased testicular size	HP:0008734
3952	LEP	Polyphagia	HP:0002591
3952	LEP	Decreased proportion of CD4-positive T cells	HP:0005407
3952	LEP	Recurrent ear infections	HP:0410018
3952	LEP	Recurrent upper respiratory tract infections	HP:0002788
3952	LEP	Obesity	HP:0001513
3952	LEP	Decreased T cell activation	HP:0005419
3952	LEP	Decreased serum testosterone level	HP:0040171
3952	LEP	Hypertriglyceridemia	HP:0002155
3952	LEP	Hypergonadotropic hypogonadism	HP:0000815
3952	LEP	Accelerated skeletal maturation	HP:0005616
3952	LEP	Pituitary hypothyroidism	HP:0008245
3952	LEP	Micropenis	HP:0000054
3952	LEP	Absence of secondary sex characteristics	HP:0008187
3952	LEP	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
3952	LEP	Insulin-resistant diabetes mellitus	HP:0000831
339829	CCDC39	Situs inversus totalis	HP:0001696
339829	CCDC39	Absent inner dynein arms	HP:0012257
339829	CCDC39	Abnormal axonemal organization of respiratory motile cilia	HP:0012258
339829	CCDC39	Otitis media	HP:0000388
339829	CCDC39	Polysplenia	HP:0001748
339829	CCDC39	Infertility	HP:0000789
339829	CCDC39	Chronic sinusitis	HP:0011109
339829	CCDC39	Abnormal ciliary motility	HP:0012262
339829	CCDC39	Autosomal recessive inheritance	HP:0000007
339829	CCDC39	Ciliary dyskinesia	HP:0012265
339829	CCDC39	Recurrent respiratory infections	HP:0002205
339829	CCDC39	Bronchiectasis	HP:0002110
3953	LEPR	Gynecomastia	HP:0000771
3953	LEPR	Emotional lability	HP:0000712
3953	LEPR	Hyperinsulinemia	HP:0000842
3953	LEPR	Immune dysregulation	HP:0002958
3953	LEPR	Aggressive behavior	HP:0000718
3953	LEPR	Primary amenorrhea	HP:0000786
3953	LEPR	Hypoplasia of the ovary	HP:0008724
3953	LEPR	Decreased serum estradiol	HP:0008214
3953	LEPR	Decreased serum leptin	HP:0003292
3953	LEPR	Decreased testicular size	HP:0008734
3953	LEPR	Polyphagia	HP:0002591
3953	LEPR	Decreased proportion of CD4-positive T cells	HP:0005407
3953	LEPR	Recurrent upper respiratory tract infections	HP:0002788
3953	LEPR	Obesity	HP:0001513
3953	LEPR	Decreased serum testosterone level	HP:0040171
3953	LEPR	Decreased T cell activation	HP:0005419
3953	LEPR	Hypertriglyceridemia	HP:0002155
3953	LEPR	Hypergonadotropic hypogonadism	HP:0000815
3953	LEPR	Accelerated skeletal maturation	HP:0005616
3953	LEPR	Pituitary hypothyroidism	HP:0008245
3953	LEPR	Delayed puberty	HP:0000823
3953	LEPR	Growth hormone deficiency	HP:0000824
3953	LEPR	Absence of secondary sex characteristics	HP:0008187
3953	LEPR	Abnormal hypothalamus morphology	HP:0012286
3953	LEPR	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
3953	LEPR	Insulin-resistant diabetes mellitus	HP:0000831
3954	LETM1	Hemangioma	HP:0001028
3954	LETM1	Autosomal dominant inheritance	HP:0000006
3954	LETM1	Congenital diaphragmatic hernia	HP:0000776
3954	LETM1	Proptosis	HP:0000520
3954	LETM1	Prominent glabella	HP:0002057
3954	LETM1	Generalized hypotonia	HP:0001290
3954	LETM1	Hip dislocation	HP:0002827
3954	LETM1	Dolichocephaly	HP:0000268
3954	LETM1	Hyperconvex fingernails	HP:0001812
3954	LETM1	Decreased fetal movement	HP:0001558
3954	LETM1	Cryptorchidism	HP:0000028
3954	LETM1	Epicanthus	HP:0000286
3954	LETM1	Abdominal situs inversus	HP:0003363
3954	LETM1	Rieger anomaly	HP:0000558
3954	LETM1	Hypospadias	HP:0000047
3954	LETM1	Aplasia/Hypoplasia of the lungs	HP:0006703
3954	LETM1	Metatarsus adductus	HP:0001840
3954	LETM1	EEG abnormality	HP:0002353
3954	LETM1	Preaxial foot polydactyly	HP:0001841
3954	LETM1	Short thumb	HP:0009778
3954	LETM1	Absent septum pellucidum	HP:0001331
3954	LETM1	Aplasia/Hypoplasia of the nipples	HP:0006709
3954	LETM1	Biliary tract abnormality	HP:0001080
3954	LETM1	Precocious puberty	HP:0000826
3954	LETM1	Hypertelorism	HP:0000316
3954	LETM1	Short philtrum	HP:0000322
3954	LETM1	Ventriculomegaly	HP:0002119
3954	LETM1	Abnormality of the kidney	HP:0000077
3954	LETM1	Calvarial skull defect	HP:0001362
3954	LETM1	Cavum septum pellucidum	HP:0002389
3954	LETM1	Abnormal sternal ossification	HP:0011863
3954	LETM1	Scoliosis	HP:0002650
3954	LETM1	Micrognathia	HP:0000347
3954	LETM1	High forehead	HP:0000348
3954	LETM1	Ventricular septal defect	HP:0001629
3954	LETM1	Atrial septal defect	HP:0001631
3954	LETM1	Tethered cord	HP:0002144
3954	LETM1	Iris coloboma	HP:0000612
3954	LETM1	Microtia	HP:0008551
3954	LETM1	Hip dysplasia	HP:0001385
3954	LETM1	Hearing impairment	HP:0000365
3954	LETM1	Low-set, posteriorly rotated ears	HP:0000368
3954	LETM1	Intellectual disability, severe	HP:0010864
3954	LETM1	Low posterior hairline	HP:0002162
3954	LETM1	Preauricular pit	HP:0004467
3954	LETM1	Abnormal heart valve morphology	HP:0001654
3954	LETM1	Abnormality of the pinna	HP:0000377
3954	LETM1	Short hallux	HP:0010109
3954	LETM1	Hypoplastic pubic rami	HP:0008830
3954	LETM1	Nystagmus	HP:0000639
3954	LETM1	Decreased muscle mass	HP:0003199
3954	LETM1	Preauricular skin tag	HP:0000384
3954	LETM1	Craniofacial asymmetry	HP:0004484
3954	LETM1	Vertebral fusion	HP:0002948
3954	LETM1	Chronic otitis media	HP:0000389
3954	LETM1	Rib fusion	HP:0000902
3954	LETM1	Sclerocornea	HP:0000647
3954	LETM1	Optic atrophy	HP:0000648
3954	LETM1	Arachnodactyly	HP:0001166
3954	LETM1	Abnormality of the gallbladder	HP:0005264
3954	LETM1	Severe postnatal growth retardation	HP:0008850
3954	LETM1	Stenosis of the external auditory canal	HP:0000402
3954	LETM1	Split hand	HP:0001171
3954	LETM1	Conductive hearing impairment	HP:0000405
3954	LETM1	Aplasia of the uterus	HP:0000151
3954	LETM1	Sensorineural hearing impairment	HP:0000407
3954	LETM1	Preaxial hand polydactyly	HP:0001177
3954	LETM1	Downturned corners of mouth	HP:0002714
3954	LETM1	Hypodontia	HP:0000668
3954	LETM1	Recurrent respiratory infections	HP:0002205
3954	LETM1	Radioulnar synostosis	HP:0002974
3954	LETM1	Sporadic	HP:0003745
3954	LETM1	Immunodeficiency	HP:0002721
3954	LETM1	High anterior hairline	HP:0009890
3954	LETM1	Osteoporosis	HP:0000939
3954	LETM1	Wide nasal bridge	HP:0000431
3954	LETM1	Cleft palate	HP:0000175
3954	LETM1	Abnormality of movement	HP:0100022
3954	LETM1	Single transverse palmar crease	HP:0000954
3954	LETM1	Malrotation of small bowel	HP:0004794
3954	LETM1	Short upper lip	HP:0000188
3954	LETM1	Convex nasal ridge	HP:0000444
3954	LETM1	Delayed skeletal maturation	HP:0002750
3954	LETM1	Ectopia pupillae	HP:0009918
3954	LETM1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
3954	LETM1	Sacral dimple	HP:0000960
3954	LETM1	Periventricular cysts	HP:0007109
3954	LETM1	Cleft upper lip	HP:0000204
3954	LETM1	Webbed neck	HP:0000465
3954	LETM1	Accessory spleen	HP:0001747
3954	LETM1	Frontal bossing	HP:0002007
3954	LETM1	Aplasia cutis congenita of scalp	HP:0007385
3954	LETM1	Stereotypy	HP:0000733
3954	LETM1	Talipes equinovarus	HP:0001762
3954	LETM1	Seizures	HP:0001250
3954	LETM1	Short stature	HP:0004322
3954	LETM1	Ataxia	HP:0001251
3954	LETM1	Failure to thrive	HP:0001508
3954	LETM1	Muscular hypotonia	HP:0001252
3954	LETM1	Gastroesophageal reflux	HP:0002020
3954	LETM1	Megalocornea	HP:0000485
3954	LETM1	Strabismus	HP:0000486
3954	LETM1	Intrauterine growth retardation	HP:0001511
3954	LETM1	Retinopathy	HP:0000488
3954	LETM1	Pseudoepiphyses of the metacarpals	HP:0009193
3954	LETM1	Downslanted palpebral fissures	HP:0000494
3954	LETM1	Hydrocephalus	HP:0000238
3954	LETM1	Small for gestational age	HP:0001518
3954	LETM1	Disproportionate tall stature	HP:0001519
3954	LETM1	Global developmental delay	HP:0001263
3954	LETM1	Abnormal form of the vertebral bodies	HP:0003312
3954	LETM1	Kyphosis	HP:0002808
3954	LETM1	Highly arched eyebrow	HP:0002553
3954	LETM1	Agenesis of corpus callosum	HP:0001274
3954	LETM1	Ptosis	HP:0000508
3954	LETM1	Microcephaly	HP:0000252
3954	LETM1	Rib segmentation abnormalities	HP:0006655
3955	LFNG	Macrocephaly	HP:0000256
3955	LFNG	Umbilical hernia	HP:0001537
3955	LFNG	Short thorax	HP:0010306
3955	LFNG	Meningocele	HP:0002435
3955	LFNG	Abnormality of the ureter	HP:0000069
3955	LFNG	Rib fusion	HP:0000902
3955	LFNG	Autosomal recessive inheritance	HP:0000007
3955	LFNG	Abnormality of female internal genitalia	HP:0000008
3955	LFNG	Congenital diaphragmatic hernia	HP:0000776
3955	LFNG	Camptodactyly of finger	HP:0100490
3955	LFNG	Prominent occiput	HP:0000269
3955	LFNG	Anteverted nares	HP:0000463
3955	LFNG	Broad forehead	HP:0000337
3955	LFNG	Anomalous pulmonary venous return	HP:0010772
3955	LFNG	Finger syndactyly	HP:0006101
3955	LFNG	Slender finger	HP:0001238
3955	LFNG	Short neck	HP:0000470
3955	LFNG	Inguinal hernia	HP:0000023
3955	LFNG	Long philtrum	HP:0000343
3955	LFNG	Scoliosis	HP:0002650
3955	LFNG	Cryptorchidism	HP:0000028
3955	LFNG	Vertebral segmentation defect	HP:0003422
3955	LFNG	Depressed nasal bridge	HP:0005280
3955	LFNG	Intellectual disability	HP:0001249
3955	LFNG	Short stature	HP:0004322
3955	LFNG	Spina bifida occulta	HP:0003298
3955	LFNG	Abnormality of immune system physiology	HP:0010978
3955	LFNG	Intrauterine growth retardation	HP:0001511
3955	LFNG	Urogenital fistula	HP:0100589
3955	LFNG	Respiratory insufficiency	HP:0002093
3955	LFNG	Cleft palate	HP:0000175
3955	LFNG	Hypospadias	HP:0000047
3955	LFNG	Abnormal form of the vertebral bodies	HP:0003312
3955	LFNG	Low-set, posteriorly rotated ears	HP:0000368
3955	LFNG	Abnormality of the intervertebral disk	HP:0005108
3955	LFNG	Supernumerary vertebral ossification centers	HP:0004598
3955	LFNG	Kyphosis	HP:0002808
3955	LFNG	Microcephaly	HP:0000252
3955	LFNG	Rib segmentation abnormalities	HP:0006655
200576	PIKFYVE	Photophobia	HP:0000613
200576	PIKFYVE	Autosomal dominant inheritance	HP:0000006
200576	PIKFYVE	Speckled corneal dystrophy	HP:0007962
3972	LHB	Androgen insufficiency	HP:0008226
3972	LHB	Gynecomastia	HP:0000771
3972	LHB	Abnormality of the Leydig cells	HP:0010789
3972	LHB	Secondary amenorrhea	HP:0000869
3972	LHB	Sparse axillary hair	HP:0002215
3972	LHB	Autosomal recessive inheritance	HP:0000007
3972	LHB	Decreased circulating luteinizing hormone level	HP:0030344
3972	LHB	Ovarian cyst	HP:0000138
3972	LHB	Decreased serum testosterone level	HP:0040171
3972	LHB	Oligomenorrhea	HP:0000876
3972	LHB	Hypogonadotrophic hypogonadism	HP:0000044
3972	LHB	Sparse pubic hair	HP:0002225
3972	LHB	Abnormality of metabolism/homeostasis	HP:0001939
3972	LHB	Micropenis	HP:0000054
3972	LHB	Testicular microlithiasis	HP:0012215
3972	LHB	Abnormal spermatogenesis	HP:0008669
3973	LHCGR	Tall stature	HP:0000098
3973	LHCGR	Acne	HP:0001061
3973	LHCGR	Increased circulating gonadotropin level	HP:0000837
3973	LHCGR	Autosomal recessive inheritance	HP:0000007
3973	LHCGR	Long penis	HP:0000040
3973	LHCGR	Attention deficit hyperactivity disorder	HP:0007018
3973	LHCGR	Hypergonadotropic hypogonadism	HP:0000815
3973	LHCGR	Accelerated skeletal maturation	HP:0005616
3973	LHCGR	Male infertility	HP:0003251
3973	LHCGR	Macroorchidism	HP:0000053
3973	LHCGR	Precocious puberty in males	HP:0008185
3973	LHCGR	Precocious puberty	HP:0000826
3973	LHCGR	Abnormal hair morphology	HP:0001595
3973	LHCGR	Oligospermia	HP:0000798
3973	LHCGR	Decreased testicular size	HP:0008734
3973	LHCGR	Sex-limited autosomal dominant	HP:0001470
3975	LHX1	Pancreatic aplasia	HP:0100801
3975	LHX1	Feeding difficulties	HP:0011968
3975	LHX1	Intellectual disability	HP:0001249
3975	LHX1	Seizures	HP:0001250
3975	LHX1	Short stature	HP:0004322
3975	LHX1	Multicystic kidney dysplasia	HP:0000003
3975	LHX1	Renal hypoplasia/aplasia	HP:0008678
3975	LHX1	Ureterocele	HP:0000070
3975	LHX1	Cerebral atrophy	HP:0002059
3975	LHX1	Hearing impairment	HP:0000365
3975	LHX1	Autism	HP:0000717
3975	LHX1	Large fontanelles	HP:0000239
3975	LHX1	Global developmental delay	HP:0001263
3975	LHX1	Shawl scrotum	HP:0000049
3975	LHX1	Diabetes mellitus	HP:0000819
3975	LHX1	Renal insufficiency	HP:0000083
3975	LHX1	Oligohydramnios	HP:0001562
3975	LHX1	Cryptorchidism	HP:0000028
3975	LHX1	Subcortical cerebral atrophy	HP:0012157
3975	LHX1	Elevated hepatic transaminase	HP:0002910
3975	LHX1	Language impairment	HP:0002463
3977	LIFR	Broad ischia	HP:0100865
3977	LIFR	Autosomal recessive inheritance	HP:0000007
3977	LIFR	Wide nasal base	HP:0012810
3977	LIFR	Generalized hypotonia	HP:0001290
3977	LIFR	Camptodactyly of finger	HP:0100490
3977	LIFR	Malar flattening	HP:0000272
3977	LIFR	Midface retrusion	HP:0011800
3977	LIFR	Oligohydramnios	HP:0001562
3977	LIFR	Adducted thumb	HP:0001181
3977	LIFR	Impaired pain sensation	HP:0007328
3977	LIFR	Recurrent fever	HP:0001954
3977	LIFR	Femoral bowing	HP:0002980
3977	LIFR	Abnormality of the dentition	HP:0000164
3977	LIFR	Tibial bowing	HP:0002982
3977	LIFR	Thickened cortex of long bones	HP:0000935
3977	LIFR	Micromelia	HP:0002983
3977	LIFR	Feeding difficulties in infancy	HP:0008872
3977	LIFR	Pulmonary hypoplasia	HP:0002089
3977	LIFR	Genu valgum	HP:0002857
3977	LIFR	Abnormality of dental enamel	HP:0000682
3977	LIFR	Osteopenia	HP:0000938
3977	LIFR	Elbow flexion contracture	HP:0002987
3977	LIFR	Osteoporosis	HP:0000939
3977	LIFR	Abnormal autonomic nervous system physiology	HP:0012332
3977	LIFR	Pulmonary arterial hypertension	HP:0002092
3977	LIFR	Respiratory insufficiency	HP:0002093
3977	LIFR	Respiratory distress	HP:0002098
3977	LIFR	Asthma	HP:0002099
3977	LIFR	Hypothyroidism	HP:0000821
3977	LIFR	Myotonia	HP:0002486
3977	LIFR	Apnea	HP:0002104
3977	LIFR	Single transverse palmar crease	HP:0000954
3977	LIFR	Blotching pigmentation of the skin	HP:0007610
3977	LIFR	Smooth tongue	HP:0010298
3977	LIFR	Absent patellar reflexes	HP:0006844
3977	LIFR	Ectopic thyroid	HP:0100028
3977	LIFR	Feeding difficulties	HP:0011968
3977	LIFR	Decreased corneal reflex	HP:0008000
3977	LIFR	Sacral dimple	HP:0000960
3977	LIFR	Square face	HP:0000321
3977	LIFR	Thin skin	HP:0000963
3977	LIFR	Pathologic fracture	HP:0002756
3977	LIFR	Recurrent fractures	HP:0002757
3977	LIFR	Flexion contracture of toe	HP:0005830
3977	LIFR	Hypohidrosis	HP:0000966
3977	LIFR	Flared metaphysis	HP:0003015
3977	LIFR	Metaphyseal widening	HP:0003016
3977	LIFR	Short palpebral fissure	HP:0012745
3977	LIFR	Hoarse voice	HP:0001609
3977	LIFR	Paresthesia	HP:0003401
3977	LIFR	Nasal speech	HP:0001611
3977	LIFR	Short phalanx of finger	HP:0009803
3977	LIFR	Talipes valgus	HP:0004684
3977	LIFR	Pursed lips	HP:0000205
3977	LIFR	Opacification of the corneal stroma	HP:0007759
3977	LIFR	Hyperhidrosis	HP:0000975
3977	LIFR	Trismus	HP:0000211
3977	LIFR	Short neck	HP:0000470
3977	LIFR	Frontal bossing	HP:0002007
3977	LIFR	Scoliosis	HP:0002650
3977	LIFR	Talipes	HP:0001883
3977	LIFR	Micrognathia	HP:0000347
3977	LIFR	Skeletal dysplasia	HP:0002652
3977	LIFR	Enlarged joints	HP:0003037
3977	LIFR	Dysphagia	HP:0002015
3977	LIFR	Abnormal metaphyseal trabeculation	HP:0005089
3977	LIFR	Contracture of the proximal interphalangeal joint of the 5th finger	HP:0009185
3977	LIFR	Short stature	HP:0004322
3977	LIFR	Talipes equinovarus	HP:0001762
3977	LIFR	Muscular hypotonia	HP:0001252
3977	LIFR	Pulmonary arterial medial hypertrophy	HP:0004964
3977	LIFR	Intrauterine growth retardation	HP:0001511
3977	LIFR	Short tibia	HP:0005736
3977	LIFR	Knee flexion contracture	HP:0006380
3977	LIFR	Low-set ears	HP:0000369
3977	LIFR	Thin ribs	HP:0000883
3977	LIFR	Metaphyseal rarefaction	HP:0004980
3977	LIFR	Hypoplastic iliac body	HP:0008824
3977	LIFR	Lacrimation abnormality	HP:0000632
3977	LIFR	Abnormality of vision	HP:0000504
3977	LIFR	Ulnar deviation of finger	HP:0009465
3977	LIFR	Short nose	HP:0003196
339855	KY	Skeletal muscle atrophy	HP:0003202
339855	KY	Muscle spasm	HP:0003394
339855	KY	Facial palsy	HP:0010628
339855	KY	Autosomal recessive inheritance	HP:0000007
339855	KY	Delayed gross motor development	HP:0002194
339855	KY	Toe walking	HP:0040083
339855	KY	Difficulty running	HP:0009046
339855	KY	Lower limb hyperreflexia	HP:0002395
339855	KY	Slow progression	HP:0003677
339855	KY	Babinski sign	HP:0003487
339855	KY	Dysphagia	HP:0002015
339855	KY	Intellectual disability	HP:0001249
339855	KY	Talipes equinovarus	HP:0001762
339855	KY	Elevated serum creatine kinase	HP:0003236
339855	KY	Proximal muscle weakness in upper limbs	HP:0008997
339855	KY	Upper limb amyotrophy	HP:0009129
339855	KY	Spinal rigidity	HP:0003306
339855	KY	Lower limb amyotrophy	HP:0007210
339855	KY	Elbow flexion contracture	HP:0002987
339855	KY	Achilles tendon contracture	HP:0001771
339855	KY	Hyperlordosis	HP:0003307
339855	KY	Inability to walk	HP:0002540
339855	KY	Knee flexion contracture	HP:0006380
339855	KY	Progressive spastic paraplegia	HP:0007020
339855	KY	Hyporeflexia	HP:0001265
339855	KY	Difficulty standing	HP:0003698
339855	KY	Difficulty walking	HP:0002355
339855	KY	Pain	HP:0012531
339855	KY	Kyphosis	HP:0002808
339855	KY	Tongue atrophy	HP:0012473
339855	KY	Kyphoscoliosis	HP:0002751
3981	LIG4	Wide anterior fontanel	HP:0000260
3981	LIG4	Cataract	HP:0000518
3981	LIG4	Hypoplastic toenails	HP:0001800
3981	LIG4	Abnormality of the antihelix	HP:0009738
3981	LIG4	Delayed cranial suture closure	HP:0000270
3981	LIG4	Narrow face	HP:0000275
3981	LIG4	Cryptorchidism	HP:0000028
3981	LIG4	Epicanthus	HP:0000286
3981	LIG4	Erythema	HP:0010783
3981	LIG4	Hypoplasia of penis	HP:0008736
3981	LIG4	Myopia	HP:0000545
3981	LIG4	Low anterior hairline	HP:0000294
3981	LIG4	Thyroiditis	HP:0100646
3981	LIG4	Short toe	HP:0001831
3981	LIG4	Broad thumb	HP:0011304
3981	LIG4	Pneumonia	HP:0002090
3981	LIG4	Respiratory insufficiency	HP:0002093
3981	LIG4	Myelodysplasia	HP:0002863
3981	LIG4	Hypospadias	HP:0000047
3981	LIG4	Thickened skin	HP:0001072
3981	LIG4	Metatarsus adductus	HP:0001840
3981	LIG4	Asthma	HP:0002099
3981	LIG4	Hypothyroidism	HP:0000821
3981	LIG4	Abnormality of female external genitalia	HP:0000055
3981	LIG4	Alopecia	HP:0001596
3981	LIG4	Sandal gap	HP:0001852
3981	LIG4	Hypertelorism	HP:0000316
3981	LIG4	Joint hyperflexibility	HP:0005692
3981	LIG4	Hypoparathyroidism	HP:0000829
3981	LIG4	Bird-like facies	HP:0000320
3981	LIG4	Acute lymphoblastic leukemia	HP:0006721
3981	LIG4	Blepharophimosis	HP:0000581
3981	LIG4	Biparietal narrowing	HP:0004422
3981	LIG4	Upslanted palpebral fissure	HP:0000582
3981	LIG4	Severe combined immunodeficiency	HP:0004430
3981	LIG4	Thrombocytopenia	HP:0001873
3981	LIG4	Abnormality of neutrophils	HP:0001874
3981	LIG4	Craniosynostosis	HP:0001363
3981	LIG4	Pancytopenia	HP:0001876
3981	LIG4	Sloping forehead	HP:0000340
3981	LIG4	Eosinophilia	HP:0001880
3981	LIG4	Scoliosis	HP:0002650
3981	LIG4	Type II diabetes mellitus	HP:0005978
3981	LIG4	Micrognathia	HP:0000347
3981	LIG4	Large beaked nose	HP:0003683
3981	LIG4	Nephrotic syndrome	HP:0000100
3981	LIG4	Lymphoma	HP:0002665
3981	LIG4	Attention deficit hyperactivity disorder	HP:0007018
3981	LIG4	Hearing impairment	HP:0000365
3981	LIG4	Anemia	HP:0001903
3981	LIG4	Low-set, posteriorly rotated ears	HP:0000368
3981	LIG4	Clinodactyly of the 5th finger	HP:0004209
3981	LIG4	Small hand	HP:0200055
3981	LIG4	Desquamation of skin soon after birth	HP:0007549
3981	LIG4	Hydronephrosis	HP:0000126
3981	LIG4	Nystagmus	HP:0000639
3981	LIG4	Aplasia/Hypoplasia of the thumb	HP:0009601
3981	LIG4	Brachydactyly	HP:0001156
3981	LIG4	Autoimmunity	HP:0002960
3981	LIG4	Abnormality of chromosome stability	HP:0003220
3981	LIG4	Fever	HP:0001945
3981	LIG4	Wide mouth	HP:0000154
3981	LIG4	Protruding ear	HP:0000411
3981	LIG4	Lymphadenopathy	HP:0002716
3981	LIG4	Recurrent infections	HP:0002719
3981	LIG4	Depressed nasal bridge	HP:0005280
3981	LIG4	Sparse scalp hair	HP:0002209
3981	LIG4	Underdeveloped supraorbital ridges	HP:0009891
3981	LIG4	Fine hair	HP:0002213
3981	LIG4	Delayed eruption of teeth	HP:0000684
3981	LIG4	Wide nasal bridge	HP:0000431
3981	LIG4	Abnormality of the metaphysis	HP:0000944
3981	LIG4	Submucous cleft hard palate	HP:0000176
3981	LIG4	Psoriasiform dermatitis	HP:0003765
3981	LIG4	Leukocytosis	HP:0001974
3981	LIG4	Acute leukemia	HP:0002488
3981	LIG4	Dry skin	HP:0000958
3981	LIG4	Delayed skeletal maturation	HP:0002750
3981	LIG4	Hepatomegaly	HP:0002240
3981	LIG4	Sacral dimple	HP:0000960
3981	LIG4	Postnatal growth retardation	HP:0008897
3981	LIG4	Eczema	HP:0000964
3981	LIG4	Cutis marmorata	HP:0000965
3981	LIG4	Sepsis	HP:0100806
3981	LIG4	Edema	HP:0000969
3981	LIG4	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
3981	LIG4	Abnormal fingernail morphology	HP:0001231
3981	LIG4	Splenomegaly	HP:0001744
3981	LIG4	Abnormality of cardiovascular system morphology	HP:0030680
3981	LIG4	Sparse lateral eyebrow	HP:0005338
3981	LIG4	High palate	HP:0000218
3981	LIG4	Pruritus	HP:0000989
3981	LIG4	Cutaneous photosensitivity	HP:0000992
3981	LIG4	Intellectual disability	HP:0001249
3981	LIG4	Seizures	HP:0001250
3981	LIG4	Short stature	HP:0004322
3981	LIG4	Spina bifida occulta	HP:0003298
3981	LIG4	Failure to thrive	HP:0001508
3981	LIG4	Strabismus	HP:0000486
3981	LIG4	Growth delay	HP:0001510
3981	LIG4	Intrauterine growth retardation	HP:0001511
3981	LIG4	Malabsorption	HP:0002024
3981	LIG4	Abnormality of skin pigmentation	HP:0001000
3981	LIG4	Telangiectasia of the skin	HP:0100585
3981	LIG4	Aplasia/Hypoplasia of the eyebrow	HP:0100840
3981	LIG4	Anal stenosis	HP:0002025
3981	LIG4	Thin vermilion border	HP:0000233
3981	LIG4	Toe syndactyly	HP:0001770
3981	LIG4	Abnormal lymphocyte morphology	HP:0004332
3981	LIG4	Chronic diarrhea	HP:0002028
3981	LIG4	Short foot	HP:0001773
3981	LIG4	Delayed speech and language development	HP:0000750
3981	LIG4	Hydrocephalus	HP:0000238
3981	LIG4	Global developmental delay	HP:0001263
3981	LIG4	Telangiectasia	HP:0001009
3981	LIG4	Rectal prolapse	HP:0002035
3981	LIG4	Brachycephaly	HP:0000248
3981	LIG4	Telecanthus	HP:0000506
3981	LIG4	Erythroderma	HP:0001019
3981	LIG4	Ptosis	HP:0000508
3981	LIG4	Microcephaly	HP:0000252
3981	LIG4	Pectus excavatum	HP:0000767
3982	LIM2	Cortical pulverulent cataract	HP:0007780
3982	LIM2	Amblyopia	HP:0000646
3982	LIM2	Autosomal recessive inheritance	HP:0000007
3982	LIM2	Nystagmus	HP:0000639
3984	LIMK1	Hypercalcemia	HP:0003072
3984	LIMK1	Umbilical hernia	HP:0001537
3984	LIMK1	Arnold-Chiari malformation	HP:0002308
3984	LIMK1	Death in early adulthood	HP:0100613
3984	LIMK1	Cataract	HP:0000518
3984	LIMK1	Hypoplastic toenails	HP:0001800
3984	LIMK1	Recurrent urinary tract infections	HP:0000010
3984	LIMK1	Arthralgia	HP:0002829
3984	LIMK1	Bladder diverticulum	HP:0000015
3984	LIMK1	Tracheoesophageal fistula	HP:0002575
3984	LIMK1	Stroke	HP:0001297
3984	LIMK1	Nephrolithiasis	HP:0000787
3984	LIMK1	Narrow face	HP:0000275
3984	LIMK1	Corneal opacity	HP:0007957
3984	LIMK1	Inguinal hernia	HP:0000023
3984	LIMK1	Abnormality of extrapyramidal motor function	HP:0002071
3984	LIMK1	Coarse facial features	HP:0000280
3984	LIMK1	Functional abnormality of male internal genitalia	HP:0000025
3984	LIMK1	Nevus flammeus	HP:0001052
3984	LIMK1	Hyperacusis	HP:0010780
3984	LIMK1	Cryptorchidism	HP:0000028
3984	LIMK1	Supravalvular aortic stenosis	HP:0004381
3984	LIMK1	Hallux valgus	HP:0001822
3984	LIMK1	Dysgraphia	HP:0010526
3984	LIMK1	Epicanthus	HP:0000286
3984	LIMK1	Dysmetria	HP:0001310
3984	LIMK1	Hypoplasia of penis	HP:0008736
3984	LIMK1	Myopia	HP:0000545
3984	LIMK1	Flat cornea	HP:0007720
3984	LIMK1	Genu valgum	HP:0002857
3984	LIMK1	Hypogonadotrophic hypogonadism	HP:0000044
3984	LIMK1	Redundant skin	HP:0001582
3984	LIMK1	Peptic ulcer	HP:0004398
3984	LIMK1	Abnormal circulating lipid concentration	HP:0003119
3984	LIMK1	High hypermetropia	HP:0008499
3984	LIMK1	Pointed chin	HP:0000307
3984	LIMK1	Abnormal dermatoglyphics	HP:0007477
3984	LIMK1	Hypothyroidism	HP:0000821
3984	LIMK1	Open bite	HP:0010807
3984	LIMK1	Cholelithiasis	HP:0001081
3984	LIMK1	Tremor	HP:0001337
3984	LIMK1	Precocious puberty	HP:0000826
3984	LIMK1	Joint hyperflexibility	HP:0005692
3984	LIMK1	Overriding aorta	HP:0002623
3984	LIMK1	Hyperreflexia	HP:0001347
3984	LIMK1	Blepharophimosis	HP:0000581
3984	LIMK1	Prematurely aged appearance	HP:0007495
3984	LIMK1	Cerebral cortical atrophy	HP:0002120
3984	LIMK1	Developmental regression	HP:0002376
3984	LIMK1	Hoarse voice	HP:0001609
3984	LIMK1	Renal duplication	HP:0000075
3984	LIMK1	Vesicoureteral reflux	HP:0000076
3984	LIMK1	Elfin facies	HP:0004428
3984	LIMK1	Cerebral ischemia	HP:0002637
3984	LIMK1	Broad forehead	HP:0000337
3984	LIMK1	Nystagmus-induced head nodding	HP:0001361
3984	LIMK1	Dysphonia	HP:0001618
3984	LIMK1	Renal insufficiency	HP:0000083
3984	LIMK1	Abnormality of pelvic girdle bone morphology	HP:0002644
3984	LIMK1	Down-sloping shoulders	HP:0200021
3984	LIMK1	Long philtrum	HP:0000343
3984	LIMK1	Renal hypoplasia	HP:0000089
3984	LIMK1	Scoliosis	HP:0002650
3984	LIMK1	Type II diabetes mellitus	HP:0005978
3984	LIMK1	Micrognathia	HP:0000347
3984	LIMK1	High forehead	HP:0000348
3984	LIMK1	Gait imbalance	HP:0002141
3984	LIMK1	Ventricular septal defect	HP:0001629
3984	LIMK1	Proteinuria	HP:0000093
3984	LIMK1	Vertebral segmentation defect	HP:0003422
3984	LIMK1	Atrial septal defect	HP:0001631
3984	LIMK1	Mitral valve prolapse	HP:0001634
3984	LIMK1	Congestive heart failure	HP:0001635
3984	LIMK1	Tetralogy of Fallot	HP:0001636
3984	LIMK1	Hypercalciuria	HP:0002150
3984	LIMK1	Hypertrophic cardiomyopathy	HP:0001639
3984	LIMK1	Cardiomegaly	HP:0001640
3984	LIMK1	Peripheral pulmonary artery stenosis	HP:0004969
3984	LIMK1	Attention deficit hyperactivity disorder	HP:0007018
3984	LIMK1	Pulmonic stenosis	HP:0001642
3984	LIMK1	Patent ductus arteriosus	HP:0001643
3984	LIMK1	Joint stiffness	HP:0001387
3984	LIMK1	Joint laxity	HP:0001388
3984	LIMK1	Sudden cardiac death	HP:0001645
3984	LIMK1	Bicuspid aortic valve	HP:0001647
3984	LIMK1	Low-set, posteriorly rotated ears	HP:0000368
3984	LIMK1	Retinal arteriolar tortuosity	HP:0001136
3984	LIMK1	Clinodactyly of the 5th finger	HP:0004209
3984	LIMK1	Posterior embryotoxon	HP:0000627
3984	LIMK1	Mitral regurgitation	HP:0001653
3984	LIMK1	Aplasia/Hypoplasia of the iris	HP:0008053
3984	LIMK1	Lacrimation abnormality	HP:0000632
3984	LIMK1	Nephrocalcinosis	HP:0000121
3984	LIMK1	Myocardial infarction	HP:0001658
3984	LIMK1	Blue irides	HP:0000635
3984	LIMK1	Short nose	HP:0003196
3984	LIMK1	Pelvic kidney	HP:0000125
3984	LIMK1	Myopathy	HP:0003198
3984	LIMK1	Increased nuchal translucency	HP:0010880
3984	LIMK1	Chronic otitis media	HP:0000389
3984	LIMK1	Phonophobia	HP:0002183
3984	LIMK1	Macrotia	HP:0000400
3984	LIMK1	Polycystic ovaries	HP:0000147
3984	LIMK1	Sensorineural hearing impairment	HP:0000407
3984	LIMK1	Wide mouth	HP:0000154
3984	LIMK1	Protruding ear	HP:0000411
3984	LIMK1	Hypodontia	HP:0000668
3984	LIMK1	Adducted thumb	HP:0001181
3984	LIMK1	Recurrent respiratory infections	HP:0002205
3984	LIMK1	Macroglossia	HP:0000158
3984	LIMK1	Carious teeth	HP:0000670
3984	LIMK1	Radioulnar synostosis	HP:0002974
3984	LIMK1	Elevated serum creatine kinase	HP:0003236
3984	LIMK1	Abnormality of the diencephalon	HP:0010662
3984	LIMK1	Abnormality of dental enamel	HP:0000682
3984	LIMK1	Osteopenia	HP:0000938
3984	LIMK1	Osteoporosis	HP:0000939
3984	LIMK1	Hypoplasia of the zygomatic bone	HP:0010669
3984	LIMK1	Wide nasal bridge	HP:0000431
3984	LIMK1	Insomnia	HP:0100785
3984	LIMK1	Tubulointerstitial abnormality	HP:0001969
3984	LIMK1	Dental malocclusion	HP:0000689
3984	LIMK1	Microdontia	HP:0000691
3984	LIMK1	Thick lower lip vermilion	HP:0000179
3984	LIMK1	Patellar dislocation	HP:0002999
3984	LIMK1	Overfriendliness	HP:0100025
3984	LIMK1	Periorbital edema	HP:0100539
3984	LIMK1	Multiple renal cysts	HP:0005562
3984	LIMK1	Delayed skeletal maturation	HP:0002750
3984	LIMK1	Sacral dimple	HP:0000960
3984	LIMK1	Abnormality of the gastric mucosa	HP:0004295
3984	LIMK1	Atrophy/Degeneration involving the corticospinal tracts	HP:0007372
3984	LIMK1	Depressivity	HP:0000716
3984	LIMK1	Colonic diverticula	HP:0002253
3984	LIMK1	Autism	HP:0000717
3984	LIMK1	Abnormal fingernail morphology	HP:0001231
3984	LIMK1	Abnormality of the neck	HP:0000464
3984	LIMK1	Renovascular hypertension	HP:0100817
3984	LIMK1	Abnormal endocardium morphology	HP:0004306
3984	LIMK1	Obsessive-compulsive behavior	HP:0000722
3984	LIMK1	Gingival overgrowth	HP:0000212
3984	LIMK1	Abnormality of the ankles	HP:0003028
3984	LIMK1	Urethral stenosis	HP:0008661
3984	LIMK1	Abnormal carotid artery morphology	HP:0005344
3984	LIMK1	Nausea and vomiting	HP:0002017
3984	LIMK1	Intellectual disability	HP:0001249
3984	LIMK1	Spina bifida occulta	HP:0003298
3984	LIMK1	Short stature	HP:0004322
3984	LIMK1	Constipation	HP:0002019
3984	LIMK1	Anxiety	HP:0000739
3984	LIMK1	Pes planus	HP:0001763
3984	LIMK1	Gastroesophageal reflux	HP:0002020
3984	LIMK1	Muscular hypotonia	HP:0001252
3984	LIMK1	Megalocornea	HP:0000485
3984	LIMK1	Strabismus	HP:0000486
3984	LIMK1	Malabsorption	HP:0002024
3984	LIMK1	Everted lower lip vermilion	HP:0000232
3984	LIMK1	Obesity	HP:0001513
3984	LIMK1	Spasticity	HP:0001257
3984	LIMK1	Hyperlordosis	HP:0003307
3984	LIMK1	Abdominal pain	HP:0002027
3984	LIMK1	Dysarthria	HP:0001260
3984	LIMK1	Abnormal form of the vertebral bodies	HP:0003312
3984	LIMK1	Rectal prolapse	HP:0002035
3984	LIMK1	Glaucoma	HP:0000501
3984	LIMK1	Kyphosis	HP:0002808
3984	LIMK1	Aortic arch aneurysm	HP:0005113
3984	LIMK1	Visual impairment	HP:0000505
3984	LIMK1	Increased bone mineral density	HP:0011001
3984	LIMK1	Failure to thrive in infancy	HP:0001531
3984	LIMK1	Microcephaly	HP:0000252
3984	LIMK1	Pectus excavatum	HP:0000767
3988	LIPA	Hepatomegaly	HP:0002240
3988	LIPA	Protuberant abdomen	HP:0001538
3988	LIPA	Vacuolated lymphocytes	HP:0001922
3988	LIPA	Ascites	HP:0001541
3988	LIPA	Abdominal distention	HP:0003270
3988	LIPA	Autosomal recessive inheritance	HP:0000007
3988	LIPA	Steatorrhea	HP:0002570
3988	LIPA	Arteriosclerosis	HP:0002634
3988	LIPA	Adrenal insufficiency	HP:0000846
3988	LIPA	Splenomegaly	HP:0001744
3988	LIPA	Adrenal calcification	HP:0010512
3988	LIPA	Hepatosplenomegaly	HP:0001433
3988	LIPA	Fever	HP:0001945
3988	LIPA	Vomiting	HP:0002013
3988	LIPA	Pruritus	HP:0000989
3988	LIPA	Diarrhea	HP:0002014
3988	LIPA	Nausea and vomiting	HP:0002017
3988	LIPA	Failure to thrive	HP:0001508
3988	LIPA	Growth delay	HP:0001510
3988	LIPA	Cachexia	HP:0004326
3988	LIPA	Hypertriglyceridemia	HP:0002155
3988	LIPA	Malnutrition	HP:0004395
3988	LIPA	Pulmonary arterial hypertension	HP:0002092
3988	LIPA	Bone-marrow foam cells	HP:0004333
3988	LIPA	Global developmental delay	HP:0001263
3988	LIPA	Anemia	HP:0001903
3988	LIPA	Cirrhosis	HP:0001394
3988	LIPA	Death in infancy	HP:0001522
3988	LIPA	Hepatic fibrosis	HP:0001395
3988	LIPA	Hypercholesterolemia	HP:0003124
3988	LIPA	Hepatic steatosis	HP:0001397
3988	LIPA	Hepatic failure	HP:0001399
3988	LIPA	Esophageal varix	HP:0002040
3988	LIPA	Jaundice	HP:0000952
3990	LIPC	Angina pectoris	HP:0001681
3990	LIPC	Eruptive xanthomas	HP:0001013
3990	LIPC	Autosomal recessive inheritance	HP:0000007
3990	LIPC	Increased HDL cholesterol concentration	HP:0012184
3990	LIPC	Hypertriglyceridemia	HP:0002155
3990	LIPC	Premature coronary artery atherosclerosis	HP:0005181
3991	LIPE	Hepatomegaly	HP:0002240
3991	LIPE	Autosomal recessive inheritance	HP:0000007
3991	LIPE	Abdominal obesity	HP:0012743
3991	LIPE	Abnormality of the labia majora	HP:0012881
3991	LIPE	Marked muscular hypertrophy	HP:0009042
3991	LIPE	Polycystic ovaries	HP:0000147
3991	LIPE	Increased adipose tissue around the neck	HP:0000468
3991	LIPE	Insulin resistance	HP:0000855
3991	LIPE	Decreased serum leptin	HP:0003292
3991	LIPE	Decreased adiponectin level	HP:0030685
3991	LIPE	Increased intraabdominal fat	HP:0008993
3991	LIPE	Proximal muscle weakness in lower limbs	HP:0008994
3991	LIPE	Elevated serum creatine kinase	HP:0003236
3991	LIPE	Lipodystrophy	HP:0009125
3991	LIPE	Proximal muscle weakness in upper limbs	HP:0008997
3991	LIPE	Muscular dystrophy	HP:0003560
3991	LIPE	Hypertriglyceridemia	HP:0002155
3991	LIPE	Oligomenorrhea	HP:0000876
3991	LIPE	Abnormal circulating lipid concentration	HP:0003119
3991	LIPE	Diabetes mellitus	HP:0000819
3991	LIPE	Loss of subcutaneous adipose tissue in limbs	HP:0003635
3991	LIPE	Proximal muscle weakness	HP:0003701
3991	LIPE	Hepatic steatosis	HP:0001397
3991	LIPE	Loss of gluteal subcutaneous adipose tissue	HP:0009017
3991	LIPE	Acanthosis nigricans	HP:0000956
3991	LIPE	Insulin-resistant diabetes mellitus	HP:0000831
3998	LMAN1	Abnormal bleeding	HP:0001892
3998	LMAN1	Reduced factor VIII activity	HP:0003125
3998	LMAN1	Autosomal recessive inheritance	HP:0000007
3998	LMAN1	Reduced coagulation factor V activity	HP:0003225
4000	LMNA	Hyperglycemia	HP:0003074
4000	LMNA	Glycosuria	HP:0003076
4000	LMNA	Hyperlipidemia	HP:0003077
4000	LMNA	Absence of pubertal development	HP:0008197
4000	LMNA	Autosomal dominant inheritance	HP:0000006
4000	LMNA	Autosomal recessive inheritance	HP:0000007
4000	LMNA	Aplasia of the phalanges of the 3rd toe	HP:0100362
4000	LMNA	Premature ovarian insufficiency	HP:0008209
4000	LMNA	Sparse eyebrow	HP:0045075
4000	LMNA	Prominent scalp veins	HP:0001043
4000	LMNA	Decreased serum estradiol	HP:0008214
4000	LMNA	Abnormal atrioventricular conduction	HP:0005150
4000	LMNA	Ventricular escape rhythm	HP:0005155
4000	LMNA	Abnormal testis morphology	HP:0000035
4000	LMNA	Pulmonary hypoplasia	HP:0002089
4000	LMNA	Hypogonadotrophic hypogonadism	HP:0000044
4000	LMNA	Respiratory insufficiency	HP:0002093
4000	LMNA	Mottled pigmentation	HP:0001070
4000	LMNA	Hypospadias	HP:0000047
4000	LMNA	Emphysema	HP:0002097
4000	LMNA	Congenital adrenal hypoplasia	HP:0008244
4000	LMNA	Hypercholesterolemia	HP:0003124
4000	LMNA	Premature arteriosclerosis	HP:0005177
4000	LMNA	Premature coronary artery atherosclerosis	HP:0005181
4000	LMNA	Increased LDL cholesterol concentration	HP:0003141
4000	LMNA	Ureteral duplication	HP:0000073
4000	LMNA	Keratoconjunctivitis sicca	HP:0001097
4000	LMNA	Tapering pointed ends of distal finger phalanges	HP:0006224
4000	LMNA	Finger clinodactyly	HP:0040019
4000	LMNA	Broad-based gait	HP:0002136
4000	LMNA	Fasting hyperinsulinemia	HP:0008283
4000	LMNA	Regional abnormality of skin	HP:0011356
4000	LMNA	Hypertriglyceridemia	HP:0002155
4000	LMNA	Aortic atherosclerotic lesion	HP:0012397
4000	LMNA	Nail dysplasia	HP:0002164
4000	LMNA	Small placenta	HP:0006266
4000	LMNA	Intracranial hemorrhage	HP:0002170
4000	LMNA	Large placenta	HP:0006267
4000	LMNA	Myopathy	HP:0003198
4000	LMNA	Skeletal muscle atrophy	HP:0003202
4000	LMNA	Brachydactyly	HP:0001156
4000	LMNA	Increased anterioposterior diameter of thorax	HP:0005253
4000	LMNA	Hypogonadism	HP:0000135
4000	LMNA	Syndactyly	HP:0001159
4000	LMNA	Camptodactyly of finger	HP:0100490
4000	LMNA	Decreased fertility	HP:0000144
4000	LMNA	Advanced eruption of teeth	HP:0006288
4000	LMNA	Toe walking	HP:0040083
4000	LMNA	Premature delivery because of cervical insufficiency or membrane fragility	HP:0005267
4000	LMNA	Polycystic ovaries	HP:0000147
4000	LMNA	Hydropic placenta	HP:0011414
4000	LMNA	Narrow mouth	HP:0000160
4000	LMNA	Sparse scalp hair	HP:0002209
4000	LMNA	Decreased HDL cholesterol concentration	HP:0003233
4000	LMNA	White forelock	HP:0002211
4000	LMNA	Elevated serum creatine kinase	HP:0003236
4000	LMNA	Abnormality of the dentition	HP:0000164
4000	LMNA	Premature graying of hair	HP:0002216
4000	LMNA	Short umbilical cord	HP:0001196
4000	LMNA	Neoplasm of the lung	HP:0100526
4000	LMNA	Absent eyebrow	HP:0002223
4000	LMNA	Submucous cleft hard palate	HP:0000176
4000	LMNA	Generalized hirsutism	HP:0002230
4000	LMNA	Short palm	HP:0004279
4000	LMNA	Sparse body hair	HP:0002231
4000	LMNA	Temporomandibular joint ankylosis	HP:0012478
4000	LMNA	Hepatomegaly	HP:0002240
4000	LMNA	Carotid artery stenosis	HP:0100546
4000	LMNA	Progeroid facial appearance	HP:0005328
4000	LMNA	Ventricular arrhythmia	HP:0004308
4000	LMNA	High palate	HP:0000218
4000	LMNA	Abnormality of complement system	HP:0005339
4000	LMNA	Decreased serum leptin	HP:0003292
4000	LMNA	Generalized osteoporosis	HP:0040160
4000	LMNA	Intellectual disability	HP:0001249
4000	LMNA	Short stature	HP:0004322
4000	LMNA	Seizures	HP:0001250
4000	LMNA	Prominent superficial blood vessels	HP:0007394
4000	LMNA	Lipoatrophy	HP:0100578
4000	LMNA	Intervertebral disc degeneration	HP:0008419
4000	LMNA	Muscular hypotonia	HP:0001252
4000	LMNA	Ovoid vertebral bodies	HP:0003300
4000	LMNA	Cachexia	HP:0004326
4000	LMNA	Telangiectasia of the skin	HP:0100585
4000	LMNA	Thin vermilion border	HP:0000233
4000	LMNA	Spinal rigidity	HP:0003306
4000	LMNA	Hyperlordosis	HP:0003307
4000	LMNA	Decreased skull ossification	HP:0004331
4000	LMNA	Decreased serum testosterone level	HP:0040171
4000	LMNA	Dermal atrophy	HP:0004334
4000	LMNA	Global developmental delay	HP:0001263
4000	LMNA	Large fontanelles	HP:0000239
4000	LMNA	Hyporeflexia	HP:0001265
4000	LMNA	Alopecia universalis	HP:0002289
4000	LMNA	Motor delay	HP:0001270
4000	LMNA	Overtubulated long bones	HP:0006391
4000	LMNA	Eclampsia	HP:0100601
4000	LMNA	Scaling skin	HP:0040189
4000	LMNA	Limb-girdle muscle weakness	HP:0003325
4000	LMNA	Myalgia	HP:0003326
4000	LMNA	Dysmenorrhea	HP:0100607
4000	LMNA	Axial muscle weakness	HP:0003327
4000	LMNA	Syncope	HP:0001279
4000	LMNA	Reticulated skin pigmentation	HP:0007427
4000	LMNA	Areflexia	HP:0001284
4000	LMNA	Ovarian neoplasm	HP:0100615
4000	LMNA	Gait disturbance	HP:0001288
4000	LMNA	Abnormality of circulating leptin level	HP:0004361
4000	LMNA	Generalized hypotonia	HP:0001290
4000	LMNA	Delayed cranial suture closure	HP:0000270
4000	LMNA	Malar flattening	HP:0000272
4000	LMNA	Narrow face	HP:0000275
4000	LMNA	Transient ischemic attack	HP:0002326
4000	LMNA	Retrognathia	HP:0000278
4000	LMNA	Aminoaciduria	HP:0003355
4000	LMNA	Aortic valve calcification	HP:0004380
4000	LMNA	Mitral valve calcification	HP:0004382
4000	LMNA	Increased facial adipose tissue	HP:0000287
4000	LMNA	Reduced tendon reflexes	HP:0001315
4000	LMNA	Microcolon	HP:0004388
4000	LMNA	Full cheeks	HP:0000293
4000	LMNA	Ankylosis	HP:0031013
4000	LMNA	Neonatal hypotonia	HP:0001319
4000	LMNA	Neoplasm of the oral cavity	HP:0100649
4000	LMNA	Muscle weakness	HP:0001324
4000	LMNA	Steppage gait	HP:0003376
4000	LMNA	Axonal degeneration/regeneration	HP:0003378
4000	LMNA	Abnormality of the cerebral vasculature	HP:0100659
4000	LMNA	Difficulty walking	HP:0002355
4000	LMNA	Cellulitis	HP:0100658
4000	LMNA	Decreased number of peripheral myelinated nerve fibers	HP:0003380
4000	LMNA	Onion bulb formation	HP:0003383
4000	LMNA	Round face	HP:0000311
4000	LMNA	Peripheral axonal atrophy	HP:0003384
4000	LMNA	Hypertelorism	HP:0000316
4000	LMNA	Absence of subcutaneous fat	HP:0007485
4000	LMNA	Abnormal trabecular bone morphology	HP:0100671
4000	LMNA	Abnormality of the pulmonary artery	HP:0004414
4000	LMNA	Bird-like facies	HP:0000320
4000	LMNA	Precocious atherosclerosis	HP:0004416
4000	LMNA	Intermittent claudication	HP:0004417
4000	LMNA	Lack of skin elasticity	HP:0100679
4000	LMNA	Premature skin wrinkling	HP:0100678
4000	LMNA	Proximal upper limb muscle hypertrophy	HP:0040266
4000	LMNA	Premature loss of teeth	HP:0006480
4000	LMNA	Craniofacial disproportion	HP:0005461
4000	LMNA	Patchy hypo- and hyperpigmentation	HP:0007509
4000	LMNA	Down-sloping shoulders	HP:0200021
4000	LMNA	Back pain	HP:0003418
4000	LMNA	Flexion contracture	HP:0001371
4000	LMNA	Micrognathia	HP:0000347
4000	LMNA	Limitation of joint mobility	HP:0001376
4000	LMNA	Decreased calvarial ossification	HP:0005474
4000	LMNA	Stiff skin	HP:0030053
4000	LMNA	Enlarged peripheral nerve	HP:0012645
4000	LMNA	Decreased motor nerve conduction velocity	HP:0003431
4000	LMNA	Hip dysplasia	HP:0001385
4000	LMNA	Skin ulcer	HP:0200042
4000	LMNA	Skin erosion	HP:0200041
4000	LMNA	Joint stiffness	HP:0001387
4000	LMNA	Hearing impairment	HP:0000365
4000	LMNA	Low-set ears	HP:0000369
4000	LMNA	Poor head control	HP:0002421
4000	LMNA	Hepatic steatosis	HP:0001397
4000	LMNA	Epidermal hyperkeratosis	HP:0007543
4000	LMNA	Abnormality of the pinna	HP:0000377
4000	LMNA	EMG abnormality	HP:0003457
4000	LMNA	EMG: myopathic abnormalities	HP:0003458
4000	LMNA	Clinodactyly	HP:0030084
4000	LMNA	Widely patent fontanelles and sutures	HP:0004492
4000	LMNA	Macrotia	HP:0000400
4000	LMNA	Heterogeneous	HP:0001425
4000	LMNA	Sensorineural hearing impairment	HP:0000407
4000	LMNA	Dermal translucency	HP:0010648
4000	LMNA	Arrhythmia	HP:0011675
4000	LMNA	Distal muscle weakness	HP:0002460
4000	LMNA	Upper limb muscle weakness	HP:0003484
4000	LMNA	Narrow nasal ridge	HP:0000418
4000	LMNA	Absent muscle fiber emerin	HP:0030117
4000	LMNA	Sparse or absent eyelashes	HP:0200102
4000	LMNA	Aplasia/Hypoplastia of the eccrine sweat glands	HP:0007592
4000	LMNA	Bilateral coxa valga	HP:0010665
4000	LMNA	Breast aplasia	HP:0100783
4000	LMNA	Wide nasal bridge	HP:0000431
4000	LMNA	Abnormal electrophysiology of sinoatrial node origin	HP:0011702
4000	LMNA	Myotonia	HP:0002486
4000	LMNA	Sinus tachycardia	HP:0011703
4000	LMNA	Congenital pseudoarthrosis of the clavicle	HP:0006585
4000	LMNA	Convex nasal ridge	HP:0000444
4000	LMNA	Subcutaneous calcification	HP:0007618
4000	LMNA	Choanal atresia	HP:0000453
4000	LMNA	Short palpebral fissure	HP:0012745
4000	LMNA	Peroneal muscle weakness	HP:0011727
4000	LMNA	Webbed neck	HP:0000465
4000	LMNA	Waddling gait	HP:0002515
4000	LMNA	Neck muscle weakness	HP:0000467
4000	LMNA	Increased adipose tissue around the neck	HP:0000468
4000	LMNA	Glomerulopathy	HP:0100820
4000	LMNA	Generalized hyperkeratosis	HP:0005595
4000	LMNA	Neoplasm of the small intestine	HP:0100833
4000	LMNA	Abnormal hair whorl	HP:0010721
4000	LMNA	Failure to thrive	HP:0001508
4000	LMNA	Growth delay	HP:0001510
4000	LMNA	Intrauterine growth retardation	HP:0001511
4000	LMNA	Muscular dystrophy	HP:0003560
4000	LMNA	Obesity	HP:0001513
4000	LMNA	Aplasia/Hypoplasia of the eyebrow	HP:0100840
4000	LMNA	Downslanted palpebral fissures	HP:0000494
4000	LMNA	Death in infancy	HP:0001522
4000	LMNA	Thin clavicles	HP:0006645
4000	LMNA	Fatiguable weakness of proximal limb muscles	HP:0030200
4000	LMNA	Telecanthus	HP:0000506
4000	LMNA	Ptosis	HP:0000508
4000	LMNA	Hypoplastic nipples	HP:0002557
4000	LMNA	Renal neoplasm	HP:0009726
4000	LMNA	Aplastic clavicle	HP:0006660
4000	LMNA	Cataract	HP:0000518
4000	LMNA	Developmental cataract	HP:0000519
4000	LMNA	Proptosis	HP:0000520
4000	LMNA	Decreased fetal movement	HP:0001558
4000	LMNA	Abnormal eyebrow morphology	HP:0000534
4000	LMNA	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0004631
4000	LMNA	Sparse and thin eyebrow	HP:0000535
4000	LMNA	Abnormality of retinal pigmentation	HP:0007703
4000	LMNA	Midface retrusion	HP:0011800
4000	LMNA	Polyhydramnios	HP:0001561
4000	LMNA	Thoracic kyphoscoliosis	HP:0005659
4000	LMNA	Hypermetropia	HP:0000540
4000	LMNA	Type 1 muscle fiber atrophy	HP:0011807
4000	LMNA	Retinal degeneration	HP:0000546
4000	LMNA	Labial pseudohypertrophy	HP:0008739
4000	LMNA	Juvenile onset	HP:0003621
4000	LMNA	Hyporeflexia of lower limbs	HP:0002600
4000	LMNA	Osteolytic defects of the phalanges of the hand	HP:0009771
4000	LMNA	Absent eyelashes	HP:0000561
4000	LMNA	Loss of subcutaneous adipose tissue in limbs	HP:0003635
4000	LMNA	Aplasia/Hypoplasia of the clavicles	HP:0006710
4000	LMNA	Narrow nasal tip	HP:0011832
4000	LMNA	Aortic root aneurysm	HP:0002616
4000	LMNA	Joint hyperflexibility	HP:0005692
4000	LMNA	Alopecia	HP:0001596
4000	LMNA	Abnormality of the nail	HP:0001597
4000	LMNA	Atherosclerosis	HP:0002621
4000	LMNA	Laryngomalacia	HP:0001601
4000	LMNA	Vocal cord paralysis	HP:0001605
4000	LMNA	Blepharophimosis	HP:0000581
4000	LMNA	Abnormality of the voice	HP:0001608
4000	LMNA	Nasal speech	HP:0001611
4000	LMNA	Squamous cell carcinoma of the skin	HP:0006739
4000	LMNA	High pitched voice	HP:0001620
4000	LMNA	Wormian bones	HP:0002645
4000	LMNA	Premature birth	HP:0001622
4000	LMNA	Scoliosis	HP:0002650
4000	LMNA	Onset	HP:0003674
4000	LMNA	Progressive	HP:0003676
4000	LMNA	Slow progression	HP:0003677
4000	LMNA	Atrial septal defect	HP:0001631
4000	LMNA	Mitral valve prolapse	HP:0001634
4000	LMNA	Congestive heart failure	HP:0001635
4000	LMNA	Hypertrophic cardiomyopathy	HP:0001639
4000	LMNA	Scapular winging	HP:0003691
4000	LMNA	Patent ductus arteriosus	HP:0001643
4000	LMNA	Dilated cardiomyopathy	HP:0001644
4000	LMNA	Sudden cardiac death	HP:0001645
4000	LMNA	Entropion	HP:0000621
4000	LMNA	Distal amyotrophy	HP:0003693
4000	LMNA	Osteosarcoma	HP:0002669
4000	LMNA	Papillary renal cell carcinoma	HP:0006766
4000	LMNA	Osteolytic defects of the distal phalanges of the hand	HP:0009839
4000	LMNA	Basal cell carcinoma	HP:0002671
4000	LMNA	Aortic valve stenosis	HP:0001650
4000	LMNA	Dextrocardia	HP:0001651
4000	LMNA	Generalized amyotrophy	HP:0003700
4000	LMNA	Proximal muscle weakness	HP:0003701
4000	LMNA	Mitral regurgitation	HP:0001653
4000	LMNA	Prolonged QT interval	HP:0001657
4000	LMNA	Myocardial infarction	HP:0001658
4000	LMNA	Bradycardia	HP:0001662
4000	LMNA	Skeletal muscle hypertrophy	HP:0003712
4000	LMNA	Limb-girdle muscular dystrophy	HP:0006785
4000	LMNA	Hypoplastic facial bones	HP:0002692
4000	LMNA	Transposition of the great arteries	HP:0001669
4000	LMNA	Minimal subcutaneous fat	HP:0003717
4000	LMNA	Coronary artery atherosclerosis	HP:0001677
4000	LMNA	Atrial flutter	HP:0004749
4000	LMNA	Sparse eyelashes	HP:0000653
4000	LMNA	Atrioventricular block	HP:0001678
4000	LMNA	Angina pectoris	HP:0001681
4000	LMNA	Exercise-induced myalgia	HP:0003738
4000	LMNA	Short distal phalanx of finger	HP:0009882
4000	LMNA	Hypodontia	HP:0000668
4000	LMNA	Congenital muscular dystrophy	HP:0003741
4000	LMNA	Pericardial effusion	HP:0001698
4000	LMNA	Dental crowding	HP:0000678
4000	LMNA	Cranial nerve paralysis	HP:0006824
4000	LMNA	Delayed eruption of teeth	HP:0000684
4000	LMNA	Neoplasm of the breast	HP:0100013
4000	LMNA	Hypoplasia of teeth	HP:0000685
4000	LMNA	Severe muscular hypotonia	HP:0006829
4000	LMNA	Reduced subcutaneous adipose tissue	HP:0003758
4000	LMNA	Left ventricular hypertrophy	HP:0001712
4000	LMNA	Calcinosis	HP:0003761
4000	LMNA	Aplasia/Hypoplasia of the earlobes	HP:0009906
4000	LMNA	Ventricular hypertrophy	HP:0001714
4000	LMNA	Natal tooth	HP:0000695
4000	LMNA	Adipose tissue loss	HP:0008887
4000	LMNA	Respiratory insufficiency due to muscle weakness	HP:0002747
4000	LMNA	Neoplasm of the thyroid gland	HP:0100031
4000	LMNA	Kyphoscoliosis	HP:0002751
4000	LMNA	Feeding difficulties	HP:0011968
4000	LMNA	Postnatal growth retardation	HP:0008897
4000	LMNA	Thin bony cortex	HP:0002753
4000	LMNA	Pili torti	HP:0003777
4000	LMNA	Aplasia/Hypoplasia involving the nose	HP:0009924
4000	LMNA	Pancreatitis	HP:0001733
4000	LMNA	Osteoarthritis	HP:0002758
4000	LMNA	Acute pancreatitis	HP:0001735
4000	LMNA	Splenomegaly	HP:0001744
4000	LMNA	Limb-girdle muscle atrophy	HP:0003797
4000	LMNA	Rimmed vacuoles	HP:0003805
4000	LMNA	Abnormality of the foot	HP:0001760
4000	LMNA	Pes cavus	HP:0001761
4000	LMNA	Pes planus	HP:0001763
4000	LMNA	Achilles tendon contracture	HP:0001771
4000	LMNA	Pulmonary carcinoid tumor	HP:0030445
4000	LMNA	Osteolysis	HP:0002797
4000	LMNA	Distal lower limb amyotrophy	HP:0008944
4000	LMNA	Stillbirth	HP:0003826
4000	LMNA	Proximal upper limb amyotrophy	HP:0008948
4000	LMNA	Arthrogryposis multiplex congenita	HP:0002804
4000	LMNA	Variable expressivity	HP:0003828
4000	LMNA	Kyphosis	HP:0002808
4000	LMNA	Proximal lower limb amyotrophy	HP:0008956
4000	LMNA	Premature rupture of membranes	HP:0001788
4000	LMNA	Pectus excavatum	HP:0000767
4000	LMNA	Narrow chest	HP:0000774
4000	LMNA	Short nail	HP:0001799
4000	LMNA	Muscle hypertrophy of the lower extremities	HP:0008968
4000	LMNA	Abnormal cellular phenotype	HP:0025354
4000	LMNA	Hip dislocation	HP:0002827
4000	LMNA	Multiple joint contractures	HP:0002828
4000	LMNA	Arthralgia	HP:0002829
4000	LMNA	Fragile nails	HP:0001808
4000	LMNA	Infertility	HP:0000789
4000	LMNA	Calf muscle hypertrophy	HP:0008981
4000	LMNA	Thin nail	HP:0001816
4000	LMNA	Increased intramuscular fat	HP:0008985
4000	LMNA	Abnormality of the intrahepatic bile duct	HP:0011040
4000	LMNA	Increased intraabdominal fat	HP:0008993
4000	LMNA	Proximal muscle weakness in lower limbs	HP:0008994
4000	LMNA	Proximal muscle weakness in upper limbs	HP:0008997
4000	LMNA	Meningioma	HP:0002858
4000	LMNA	Loss of truncal subcutaneous adipose tissue	HP:0009002
4000	LMNA	Rocker bottom foot	HP:0001838
4000	LMNA	Hypergonadotropic hypogonadism	HP:0000815
4000	LMNA	Diabetes mellitus	HP:0000819
4000	LMNA	Abnormality of skeletal muscle fiber size	HP:0012084
4000	LMNA	Hypertension	HP:0000822
4000	LMNA	Delayed puberty	HP:0000823
4000	LMNA	Precocious puberty	HP:0000826
4000	LMNA	Insulin-resistant diabetes mellitus	HP:0000831
4000	LMNA	Arteriosclerosis of small cerebral arteries	HP:0004931
4000	LMNA	Foot dorsiflexor weakness	HP:0009027
4000	LMNA	Adrenal hypoplasia	HP:0000835
4000	LMNA	Hyperinsulinemia	HP:0000842
4000	LMNA	Acroosteolysis of distal phalanges (feet)	HP:0001870
4000	LMNA	Accelerated atherosclerosis	HP:0004943
4000	LMNA	Peripheral arterial stenosis	HP:0004950
4000	LMNA	Difficulty running	HP:0009046
4000	LMNA	Insulin resistance	HP:0000855
4000	LMNA	Hyperphosphatemia	HP:0002905
4000	LMNA	Peroneal muscle atrophy	HP:0009049
4000	LMNA	Type II diabetes mellitus	HP:0005978
4000	LMNA	Talipes	HP:0001883
4000	LMNA	Secondary amenorrhea	HP:0000869
4000	LMNA	Thrombocytosis	HP:0001894
4000	LMNA	Generalized lipodystrophy	HP:0009064
4000	LMNA	Ascending tubular aorta aneurysm	HP:0004970
4000	LMNA	Insulin-resistant diabetes mellitus at puberty	HP:0000877
4000	LMNA	Restricted neck movement due to contractures	HP:0005997
4000	LMNA	Thin ribs	HP:0000883
4000	LMNA	Distal sensory impairment	HP:0002936
4000	LMNA	Short clavicles	HP:0000894
4000	LMNA	Ichthyosis	HP:0008064
4000	LMNA	Neoplasm of the skin	HP:0008069
4000	LMNA	Sparse hair	HP:0008070
4000	LMNA	Progressive clavicular acroosteolysis	HP:0000905
4000	LMNA	Sprengel anomaly	HP:0000912
4000	LMNA	Lipodystrophy	HP:0009125
4000	LMNA	Chondrocalcinosis	HP:0000934
4000	LMNA	Osteopenia	HP:0000938
4000	LMNA	Elbow flexion contracture	HP:0002987
4000	LMNA	Osteoporosis	HP:0000939
4000	LMNA	Hyperpigmentation of the skin	HP:0000953
4000	LMNA	Acanthosis nigricans	HP:0000956
4000	LMNA	Cyanosis	HP:0000961
4000	LMNA	Hyperkeratosis	HP:0000962
4000	LMNA	Thin skin	HP:0000963
4000	LMNA	Hypohidrosis	HP:0000966
4000	LMNA	Metaphyseal widening	HP:0003016
4000	LMNA	Prominent forehead	HP:0011220
4000	LMNA	Sclerosis of hand bone	HP:0004054
4000	LMNA	Prolonged prothrombin time	HP:0008151
4000	LMNA	Decreased adiponectin level	HP:0030685
4000	LMNA	Xanthomatosis	HP:0000991
4000	LMNA	Scleroderma	HP:0100324
4000	LMNA	Structural foot deformity	HP:0010219
4000	LMNA	Hypotrichosis	HP:0001006
4000	LMNA	Hirsutism	HP:0001007
4000	LMNA	Mildly elevated creatine kinase	HP:0008180
4000	LMNA	Abnormality of the Achilles tendon	HP:0005109
4000	LMNA	Atrial fibrillation	HP:0005110
4000	LMNA	Prominent superficial veins	HP:0001015
4000	LMNA	Supraventricular arrhythmia	HP:0005115
4000	LMNA	Aplasia of the middle phalanx of the hand	HP:0010239
4001	LMNB1	Hyperreflexia	HP:0001347
4001	LMNB1	Hypohidrosis	HP:0000966
4001	LMNB1	Autosomal dominant inheritance	HP:0000006
4001	LMNB1	Gait disturbance	HP:0001288
4001	LMNB1	Cerebral cortical atrophy	HP:0002120
4001	LMNB1	Corpus callosum atrophy	HP:0007371
4001	LMNB1	Dilatation of the bladder	HP:0010955
4001	LMNB1	Urinary urgency	HP:0000012
4001	LMNB1	Depressivity	HP:0000716
4001	LMNB1	Autonomic erectile dysfunction	HP:0008652
4001	LMNB1	Abnormality of the urinary system	HP:0000079
4001	LMNB1	Diffuse leukoencephalopathy	HP:0006994
4001	LMNB1	Abnormal pyramidal sign	HP:0007256
4001	LMNB1	Progressive	HP:0003676
4001	LMNB1	Autonomic bladder dysfunction	HP:0005341
4001	LMNB1	Symmetric peripheral demyelination	HP:0007262
4001	LMNB1	Dysphagia	HP:0002015
4001	LMNB1	Babinski sign	HP:0003487
4001	LMNB1	Tetraparesis	HP:0002273
4001	LMNB1	Impotence	HP:0000802
4001	LMNB1	Ataxia	HP:0001251
4001	LMNB1	Constipation	HP:0002019
4001	LMNB1	Abnormal cerebellum morphology	HP:0001317
4001	LMNB1	Intellectual disability, mild	HP:0001256
4001	LMNB1	Progressive neurologic deterioration	HP:0002344
4001	LMNB1	Spasticity	HP:0001257
4001	LMNB1	Atrophy of the spinal cord	HP:0006827
4001	LMNB1	Dysarthria	HP:0001260
4001	LMNB1	Hearing impairment	HP:0000365
4001	LMNB1	Global developmental delay	HP:0001263
4001	LMNB1	Leukodystrophy	HP:0002415
4001	LMNB1	Personality changes	HP:0000751
4001	LMNB1	Pseudobulbar paralysis	HP:0007024
4001	LMNB1	Hypotension	HP:0002615
4001	LMNB1	Decreased sweating due to autonomic dysfunction	HP:0007480
4001	LMNB1	Tremor	HP:0001337
4001	LMNB1	Gliosis	HP:0002171
4001	LMNB1	Visual loss	HP:0000572
4001	LMNB1	Adult onset	HP:0003581
4001	LMNB1	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
4001	LMNB1	Nystagmus	HP:0000639
4004	LMO1	Neoplasm of the nervous system	HP:0004375
4004	LMO1	Elevated urinary catecholamines	HP:0011976
4010	LMX1B	Hypoplasia of first ribs	HP:0006657
4010	LMX1B	Autosomal dominant inheritance	HP:0000006
4010	LMX1B	Cataract	HP:0000518
4010	LMX1B	Anonychia	HP:0001798
4010	LMX1B	Absence of pectoralis minor muscle	HP:0005255
4010	LMX1B	Absent distal interphalangeal creases	HP:0001032
4010	LMX1B	Hypoplastic toenails	HP:0001800
4010	LMX1B	Ridged nail	HP:0001807
4010	LMX1B	Hematuria	HP:0000790
4010	LMX1B	Sensorineural hearing impairment	HP:0000407
4010	LMX1B	Cubitus valgus	HP:0002967
4010	LMX1B	Elongated radius	HP:0006424
4010	LMX1B	Hypoplastic radial head	HP:0003997
4010	LMX1B	Antecubital pterygium	HP:0009760
4010	LMX1B	Disproportionate prominence of the femoral medial condyle	HP:0006437
4010	LMX1B	Exostoses	HP:0100777
4010	LMX1B	Patellar aplasia	HP:0006443
4010	LMX1B	Cleft palate	HP:0000175
4010	LMX1B	Keratoconus	HP:0000563
4010	LMX1B	Iliac horns	HP:0009780
4010	LMX1B	Lester's sign	HP:0009781
4010	LMX1B	Hypertension	HP:0000822
4010	LMX1B	Patellar dislocation	HP:0002999
4010	LMX1B	Biceps aplasia	HP:0009783
4010	LMX1B	Triceps aplasia	HP:0009785
4010	LMX1B	Quadriceps aplasia	HP:0009788
4010	LMX1B	Joint hyperflexibility	HP:0005692
4010	LMX1B	Concave nail	HP:0001598
4010	LMX1B	Osteoarthritis	HP:0002758
4010	LMX1B	Vasculitis	HP:0002633
4010	LMX1B	Cleft upper lip	HP:0000204
4010	LMX1B	Abnormal fingernail morphology	HP:0001231
4010	LMX1B	Renal insufficiency	HP:0000083
4010	LMX1B	Glomerulopathy	HP:0100820
4010	LMX1B	Microphakia	HP:0012376
4010	LMX1B	Scoliosis	HP:0002650
4010	LMX1B	Microscopic hematuria	HP:0002907
4010	LMX1B	Skeletal dysplasia	HP:0002652
4010	LMX1B	Proteinuria	HP:0000093
4010	LMX1B	Limited elbow extension	HP:0001377
4010	LMX1B	Microcornea	HP:0000482
4010	LMX1B	Talipes equinovarus	HP:0001762
4010	LMX1B	Short stature	HP:0004322
4010	LMX1B	Aplasia/Hypoplasia of the patella	HP:0006498
4010	LMX1B	Glomerulonephritis	HP:0000099
4010	LMX1B	Pes planus	HP:0001763
4010	LMX1B	Nephrotic syndrome	HP:0000100
4010	LMX1B	Glenoid fossa hypoplasia	HP:0006633
4010	LMX1B	Joint swelling	HP:0001386
4010	LMX1B	Joint stiffness	HP:0001387
4010	LMX1B	Hearing impairment	HP:0000365
4010	LMX1B	Spina bifida	HP:0002414
4010	LMX1B	Nephropathy	HP:0000112
4010	LMX1B	Clinodactyly of the 5th finger	HP:0004209
4010	LMX1B	Glaucoma	HP:0000501
4010	LMX1B	Lumbar hyperlordosis	HP:0002938
4010	LMX1B	Thickening of the lateral border of the scapula	HP:0006650
4010	LMX1B	Ptosis	HP:0000508
4010	LMX1B	Pectus excavatum	HP:0000767
4014	LOR	Skin plaque	HP:0200035
4014	LOR	Hyperkeratosis	HP:0000962
4014	LOR	Orthokeratosis	HP:0040162
4014	LOR	Autosomal dominant inheritance	HP:0000006
4014	LOR	Honeycomb palmoplantar keratoderma	HP:0007465
4014	LOR	Parakeratosis	HP:0001036
4014	LOR	Onychogryposis	HP:0001805
4014	LOR	Amniotic constriction ring	HP:0009775
4014	LOR	Nail dystrophy	HP:0008404
4014	LOR	Palmoplantar keratoderma	HP:0000982
4014	LOR	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
4014	LOR	Sensorineural hearing impairment	HP:0000407
4014	LOR	Hypergranulosis	HP:0025114
4014	LOR	Erythema	HP:0010783
4015	LOX	Carotid artery dilatation	HP:0012163
4015	LOX	Ascending aortic dissection	HP:0004933
4015	LOX	Cutis marmorata	HP:0000965
4015	LOX	Autosomal dominant inheritance	HP:0000006
4015	LOX	Chest pain	HP:0100749
4015	LOX	Coronary artery atherosclerosis	HP:0001677
4015	LOX	Abnormality iris morphology	HP:0000525
4015	LOX	Arachnodactyly	HP:0001166
4015	LOX	Dilatation of the cerebral artery	HP:0004944
4015	LOX	High, narrow palate	HP:0002705
4015	LOX	Mucoid extracellular matrix accumulation	HP:0200146
4015	LOX	Bruising susceptibility	HP:0000978
4015	LOX	Descending aortic dissection	HP:0012499
4015	LOX	Peripheral arterial stenosis	HP:0004950
4015	LOX	Transient ischemic attack	HP:0002326
4015	LOX	Retrognathia	HP:0000278
4015	LOX	Inguinal hernia	HP:0000023
4015	LOX	High palate	HP:0000218
4015	LOX	Scoliosis	HP:0002650
4015	LOX	Subarachnoid hemorrhage	HP:0002138
4015	LOX	Paroxysmal dyspnea	HP:0012763
4015	LOX	Ischemic stroke	HP:0002140
4015	LOX	Descending thoracic aorta aneurysm	HP:0004959
4015	LOX	Myopia	HP:0000545
4015	LOX	Hypovolemia	HP:0011106
4015	LOX	Tall stature	HP:0000098
4015	LOX	Pes planus	HP:0001763
4015	LOX	Joint hypermobility	HP:0001382
4015	LOX	Dural ectasia	HP:0100775
4015	LOX	Dental crowding	HP:0000678
4015	LOX	Cardiomegaly	HP:0001640
4015	LOX	Left ventricular dysfunction	HP:0005162
4015	LOX	Patent ductus arteriosus	HP:0001643
4015	LOX	Bicuspid aortic valve	HP:0001647
4015	LOX	Disproportionate tall stature	HP:0001519
4015	LOX	Mitral regurgitation	HP:0001653
4015	LOX	Hypertension	HP:0000822
4015	LOX	Aortic root aneurysm	HP:0002616
4015	LOX	Abdominal aortic aneurysm	HP:0005112
4015	LOX	Aortic arch aneurysm	HP:0005113
4015	LOX	Hemoptysis	HP:0002105
4015	LOX	Pneumothorax	HP:0002107
4015	LOX	Exertional dyspnea	HP:0002875
4015	LOX	Aortic regurgitation	HP:0001659
4015	LOX	Hypertelorism	HP:0000316
4015	LOX	Prenatal maternal abnormality	HP:0002686
4015	LOX	Abnormality of the sternum	HP:0000766
4023	LPL	Nausea	HP:0002018
4023	LPL	Increased VLDL cholesterol concentration	HP:0003362
4023	LPL	Pancreatitis	HP:0001733
4023	LPL	Hyperlipidemia	HP:0003077
4023	LPL	Increased LDL cholesterol concentration	HP:0003141
4023	LPL	Autosomal dominant inheritance	HP:0000006
4023	LPL	Autosomal recessive inheritance	HP:0000007
4023	LPL	Increased circulating chylomicron concentration	HP:0012238
4023	LPL	Episodic abdominal pain	HP:0002574
4023	LPL	Splenomegaly	HP:0001744
4023	LPL	Lactescent serum	HP:0031028
4023	LPL	Lipemia retinalis	HP:0000660
4023	LPL	Hypercholesterolemia	HP:0003124
4023	LPL	Eruptive xanthomas	HP:0001013
4023	LPL	Elevated apolipoprotein B level	HP:0031798
4023	LPL	Jaundice	HP:0000952
4023	LPL	Elevated apolipoprotein A-II level	HP:0031800
4023	LPL	Hepatosplenomegaly	HP:0001433
4023	LPL	Myocardial infarction	HP:0001658
4023	LPL	Xanthelasma	HP:0001114
4023	LPL	Vomiting	HP:0002013
94137	RP1L1	Abnormal multifocal electroretinogram	HP:0030468
94137	RP1L1	Slow decrease in visual acuity	HP:0007924
94137	RP1L1	Autosomal dominant inheritance	HP:0000006
94137	RP1L1	Macular dystrophy	HP:0007754
4026	LPP	Somatic mutation	HP:0001428
4026	LPP	Autosomal dominant inheritance	HP:0000006
4026	LPP	Acute myeloid leukemia	HP:0004808
4035	LRP1	Comedo	HP:0025249
4035	LRP1	Absent eyelashes	HP:0000561
4035	LRP1	Papule	HP:0200034
4035	LRP1	Sunken cheeks	HP:0009938
4035	LRP1	Sparse eyebrow	HP:0045075
4035	LRP1	Abnormal perifollicular morphology	HP:0031285
4035	LRP1	Epiphora	HP:0009926
4035	LRP1	Autosomal recessive inheritance	HP:0000007
4035	LRP1	Erythema	HP:0010783
4036	LRP2	Macrocephaly	HP:0000256
4036	LRP2	Umbilical hernia	HP:0001537
4036	LRP2	Omphalocele	HP:0001539
4036	LRP2	Wide anterior fontanel	HP:0000260
4036	LRP2	Intestinal malrotation	HP:0002566
4036	LRP2	Cataract	HP:0000518
4036	LRP2	Non-acidotic proximal tubulopathy	HP:0005574
4036	LRP2	Broad nasal tip	HP:0000455
4036	LRP2	Autosomal recessive inheritance	HP:0000007
4036	LRP2	Congenital diaphragmatic hernia	HP:0000776
4036	LRP2	Proptosis	HP:0000520
4036	LRP2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
4036	LRP2	Infra-orbital crease	HP:0100876
4036	LRP2	Malar flattening	HP:0000272
4036	LRP2	Progressive visual loss	HP:0000529
4036	LRP2	Broad forehead	HP:0000337
4036	LRP2	Diaphragmatic eventration	HP:0009110
4036	LRP2	Sensorineural hearing impairment	HP:0000407
4036	LRP2	Midface retrusion	HP:0011800
4036	LRP2	Ventricular septal defect	HP:0001629
4036	LRP2	Retinal detachment	HP:0000541
4036	LRP2	Proteinuria	HP:0000093
4036	LRP2	Widow's peak	HP:0000349
4036	LRP2	Depressed nasal bridge	HP:0005280
4036	LRP2	Intellectual disability	HP:0001249
4036	LRP2	Myopia	HP:0000545
4036	LRP2	Seizures	HP:0001250
4036	LRP2	Iris coloboma	HP:0000612
4036	LRP2	Posteriorly rotated ears	HP:0000358
4036	LRP2	Retinal dystrophy	HP:0000556
4036	LRP2	Bicornuate uterus	HP:0000813
4036	LRP2	Downslanted palpebral fissures	HP:0000494
4036	LRP2	Global developmental delay	HP:0001263
4036	LRP2	Low-set ears	HP:0000369
4036	LRP2	Low-molecular-weight proteinuria	HP:0003126
4036	LRP2	Partial agenesis of the corpus callosum	HP:0001338
4036	LRP2	High myopia	HP:0011003
4036	LRP2	Hypertelorism	HP:0000316
4036	LRP2	Hypoplasia of the iris	HP:0007676
4036	LRP2	Short nose	HP:0003196
4038	LRP4	Macrocephaly	HP:0000256
4038	LRP4	Abnormality of the ribs	HP:0000772
4038	LRP4	Cataract	HP:0000518
4038	LRP4	Autosomal dominant inheritance	HP:0000006
4038	LRP4	Autosomal recessive inheritance	HP:0000007
4038	LRP4	Proptosis	HP:0000520
4038	LRP4	Absent toenail	HP:0001802
4038	LRP4	Hip dislocation	HP:0002827
4038	LRP4	Malar flattening	HP:0000272
4038	LRP4	Absent fingernail	HP:0001817
4038	LRP4	Drowsiness	HP:0002329
4038	LRP4	Thoracic kyphoscoliosis	HP:0005659
4038	LRP4	Abnormal cortical bone morphology	HP:0003103
4038	LRP4	Reduced tendon reflexes	HP:0001315
4038	LRP4	Restrictive ventilatory defect	HP:0002091
4038	LRP4	Muscle weakness	HP:0001324
4038	LRP4	Weakness of the intrinsic hand muscles	HP:0009005
4038	LRP4	Mandibular prognathia	HP:0000303
4038	LRP4	Short thumb	HP:0009778
4038	LRP4	Difficulty walking	HP:0002355
4038	LRP4	Hypothyroidism	HP:0000821
4038	LRP4	Abnormal dermatoglyphics	HP:0007477
4038	LRP4	Foot oligodactyly	HP:0001849
4038	LRP4	Cutaneous finger syndactyly	HP:0010554
4038	LRP4	Exertional dyspnea	HP:0002875
4038	LRP4	Hypertelorism	HP:0000316
4038	LRP4	Easy fatigability	HP:0003388
4038	LRP4	Respiratory failure	HP:0002878
4038	LRP4	Laryngomalacia	HP:0001601
4038	LRP4	Short philtrum	HP:0000322
4038	LRP4	Facial asymmetry	HP:0000324
4038	LRP4	Decreased miniature endplate potentials	HP:0003402
4038	LRP4	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
4038	LRP4	Ophthalmoparesis	HP:0000597
4038	LRP4	Renal hypoplasia	HP:0000089
4038	LRP4	Scoliosis	HP:0002650
4038	LRP4	Micrognathia	HP:0000347
4038	LRP4	Tall stature	HP:0000098
4038	LRP4	Renal agenesis	HP:0000104
4038	LRP4	Hearing impairment	HP:0000365
4038	LRP4	Abnormality of the nose	HP:0000366
4038	LRP4	Curved distal phalanges of the hand	HP:0009838
4038	LRP4	Decreased size of nerve terminals	HP:0003443
4038	LRP4	Nail dysplasia	HP:0002164
4038	LRP4	Weakness of long finger extensor muscles	HP:0009077
4038	LRP4	Short nose	HP:0003196
4038	LRP4	Nystagmus	HP:0000639
4038	LRP4	Crossed fused renal ectopia	HP:0004736
4038	LRP4	Skeletal muscle atrophy	HP:0003202
4038	LRP4	EMG: myopathic abnormalities	HP:0003458
4038	LRP4	Facial palsy	HP:0010628
4038	LRP4	Triceps weakness	HP:0031108
4038	LRP4	Syndactyly	HP:0001159
4038	LRP4	Optic atrophy	HP:0000648
4038	LRP4	Neck flexor weakness	HP:0003722
4038	LRP4	Abnormality of the metacarpal bones	HP:0001163
4038	LRP4	Diplopia	HP:0000651
4038	LRP4	Craniofacial hyperostosis	HP:0004493
4038	LRP4	Ankle weakness	HP:0031374
4038	LRP4	Ectropion	HP:0000656
4038	LRP4	High, narrow palate	HP:0002705
4038	LRP4	Delayed gross motor development	HP:0002194
4038	LRP4	Sensorineural hearing impairment	HP:0000407
4038	LRP4	Diaphyseal thickening	HP:0005019
4038	LRP4	Protruding ear	HP:0000411
4038	LRP4	Hypodontia	HP:0000668
4038	LRP4	Abnormality of masticatory muscle	HP:0410011
4038	LRP4	Radioulnar synostosis	HP:0002974
4038	LRP4	Short finger	HP:0009381
4038	LRP4	Micromelia	HP:0002983
4038	LRP4	Hypoplasia of the radius	HP:0002984
4038	LRP4	Abnormality of dental enamel	HP:0000682
4038	LRP4	Synostosis of carpal bones	HP:0005048
4038	LRP4	Convex nasal ridge	HP:0000444
4038	LRP4	Fingernail dysplasia	HP:0100798
4038	LRP4	Feeding difficulties	HP:0011968
4038	LRP4	Cyanosis	HP:0000961
4038	LRP4	Hypoplasia of the ulna	HP:0003022
4038	LRP4	2-3 finger syndactyly	HP:0001233
4038	LRP4	Prominent forehead	HP:0011220
4038	LRP4	Finger syndactyly	HP:0006101
4038	LRP4	Frontal bossing	HP:0002007
4038	LRP4	High palate	HP:0000218
4038	LRP4	Type 1 muscle fiber predominance	HP:0003803
4038	LRP4	Shoulder girdle muscle weakness	HP:0003547
4038	LRP4	Orthopnea	HP:0012764
4038	LRP4	Tetraparesis	HP:0002273
4038	LRP4	Elbow dislocation	HP:0003042
4038	LRP4	Hip flexor weakness	HP:0012515
4038	LRP4	Renal hypoplasia/aplasia	HP:0008678
4038	LRP4	Reduced vital capacity	HP:0002792
4038	LRP4	Toe syndactyly	HP:0001770
4038	LRP4	Downslanted palpebral fissures	HP:0000494
4038	LRP4	Abnormal form of the vertebral bodies	HP:0003312
4038	LRP4	Hyporeflexia	HP:0001265
4038	LRP4	Fatigable weakness of respiratory muscles	HP:0030196
4038	LRP4	Fatigable weakness of neck muscles	HP:0030199
4038	LRP4	Increased bone mineral density	HP:0011001
4038	LRP4	Congenital onset	HP:0003577
4038	LRP4	Ptosis	HP:0000508
4040	LRP6	Microdontia	HP:0000691
4040	LRP6	Oligodontia	HP:0000677
4040	LRP6	Autosomal dominant inheritance	HP:0000006
4040	LRP6	Taurodontia	HP:0000679
4040	LRP6	Hypoplasia of the maxilla	HP:0000327
4040	LRP6	Micrognathia	HP:0000347
4040	LRP6	Agenesis of permanent teeth	HP:0006349
4041	LRP5	Macrocephaly	HP:0000256
4041	LRP5	Broad jaw	HP:0012802
4041	LRP5	Abnormality of the ribs	HP:0000772
4041	LRP5	Peripheral retinal avascularization	HP:0007685
4041	LRP5	Glioma	HP:0009733
4041	LRP5	Autosomal dominant inheritance	HP:0000006
4041	LRP5	Cataract	HP:0000518
4041	LRP5	Autosomal recessive inheritance	HP:0000007
4041	LRP5	Infantile onset	HP:0003593
4041	LRP5	Generalized hypotonia	HP:0001290
4041	LRP5	Subcapsular cataract	HP:0000523
4041	LRP5	Headache	HP:0002315
4041	LRP5	Barrel-shaped chest	HP:0001552
4041	LRP5	Low serum calcitriol	HP:0012052
4041	LRP5	Corneal opacity	HP:0007957
4041	LRP5	Congenital nystagmus	HP:0006934
4041	LRP5	Exudative vitreoretinopathy	HP:0030490
4041	LRP5	Retinal detachment	HP:0000541
4041	LRP5	Metacarpal diaphyseal endosteal sclerosis	HP:0006174
4041	LRP5	Abnormal cortical bone morphology	HP:0003103
4041	LRP5	Abnormality of the femoral neck or head region	HP:0003366
4041	LRP5	Isosexual precocious puberty	HP:0008236
4041	LRP5	Loss of ability to walk	HP:0006957
4041	LRP5	Respiratory insufficiency	HP:0002093
4041	LRP5	Mandibular prognathia	HP:0000303
4041	LRP5	Moderately reduced visual acuity	HP:0030515
4041	LRP5	Microphthalmia	HP:0000568
4041	LRP5	Dilatation	HP:0002617
4041	LRP5	Clavicular sclerosis	HP:0100923
4041	LRP5	Hypertelorism	HP:0000316
4041	LRP5	Iris atrophy	HP:0001089
4041	LRP5	Flat forehead	HP:0004425
4041	LRP5	Angle closure glaucoma	HP:0012109
4041	LRP5	Mild global developmental delay	HP:0011342
4041	LRP5	Abnormal macular morphology	HP:0001103
4041	LRP5	Blue sclerae	HP:0000592
4041	LRP5	Broad forehead	HP:0000337
4041	LRP5	Craniosynostosis	HP:0001363
4041	LRP5	Abnormality of pelvic girdle bone morphology	HP:0002644
4041	LRP5	Wormian bones	HP:0002645
4041	LRP5	Cranial hyperostosis	HP:0004437
4041	LRP5	Premature birth	HP:0001622
4041	LRP5	Visual acuity light perception with projection	HP:0030551
4041	LRP5	Back pain	HP:0003418
4041	LRP5	High forehead	HP:0000348
4041	LRP5	Slow progression	HP:0003677
4041	LRP5	Ventricular septal defect	HP:0001629
4041	LRP5	Vitreoretinopathy	HP:0007773
4041	LRP5	Increased susceptibility to fractures	HP:0002659
4041	LRP5	Absent anterior chamber of the eye	HP:0008037
4041	LRP5	Joint hypermobility	HP:0001382
4041	LRP5	Blindness	HP:0000618
4041	LRP5	Renal cyst	HP:0000107
4041	LRP5	Joint laxity	HP:0001388
4041	LRP5	Hearing impairment	HP:0000365
4041	LRP5	Retinal arteriolar tortuosity	HP:0001136
4041	LRP5	Severely reduced visual acuity	HP:0001141
4041	LRP5	Abnormality of the clavicle	HP:0000889
4041	LRP5	Retinal exudate	HP:0001147
4041	LRP5	Thickened calvaria	HP:0002684
4041	LRP5	Nystagmus	HP:0000639
4041	LRP5	Hepatic cysts	HP:0001407
4041	LRP5	Preauricular skin tag	HP:0000384
4041	LRP5	Horizontal pendular nystagmus	HP:0007811
4041	LRP5	Facial palsy	HP:0010628
4041	LRP5	Optic atrophy	HP:0000648
4041	LRP5	Craniofacial hyperostosis	HP:0004493
4041	LRP5	Heterogeneous	HP:0001425
4041	LRP5	Delayed gross motor development	HP:0002194
4041	LRP5	Conductive hearing impairment	HP:0000405
4041	LRP5	Sensorineural hearing impairment	HP:0000407
4041	LRP5	Diaphyseal thickening	HP:0005019
4041	LRP5	Phthisis bulbi	HP:0000667
4041	LRP5	Generalized osteosclerosis	HP:0005789
4041	LRP5	Polycystic liver disease	HP:0006557
4041	LRP5	Abnormality of the vertebral column	HP:0000925
4041	LRP5	Platyspondyly	HP:0000926
4041	LRP5	Thickened cortex of long bones	HP:0000935
4041	LRP5	Hyperostosis	HP:0100774
4041	LRP5	Feeding difficulties in infancy	HP:0008872
4041	LRP5	Osteopenia	HP:0000938
4041	LRP5	Osteoporosis	HP:0000939
4041	LRP5	Dental malocclusion	HP:0000689
4041	LRP5	Metatarsal diaphyseal endosteal sclerosis	HP:0008114
4041	LRP5	Torus palatinus	HP:0100789
4041	LRP5	Multiple renal cysts	HP:0005562
4041	LRP5	Kyphoscoliosis	HP:0002751
4041	LRP5	Gastrointestinal hemorrhage	HP:0002239
4041	LRP5	Hepatomegaly	HP:0002240
4041	LRP5	Congenital blindness	HP:0007875
4041	LRP5	Pathologic fracture	HP:0002756
4041	LRP5	Abnormality of the pancreas	HP:0001732
4041	LRP5	Recurrent fractures	HP:0002757
4041	LRP5	Abdominal distention	HP:0003270
4041	LRP5	Metaphyseal widening	HP:0003016
4041	LRP5	Retinal neovascularization	HP:0030666
4041	LRP5	Posterior vitreous detachment	HP:0001489
4041	LRP5	Waddling gait	HP:0002515
4041	LRP5	Increased intracranial pressure	HP:0002516
4041	LRP5	Falciform retinal fold	HP:0001493
4041	LRP5	Frontal bossing	HP:0002007
4041	LRP5	Abnormality of cardiovascular system morphology	HP:0030680
4041	LRP5	Exudative retinopathy	HP:0007898
4041	LRP5	Vitreous hemorrhage	HP:0007902
4041	LRP5	Crumpled long bones	HP:0006367
4041	LRP5	Short stature	HP:0004322
4041	LRP5	Growth abnormality	HP:0001507
4041	LRP5	Muscular hypotonia	HP:0001252
4041	LRP5	Gastroesophageal reflux	HP:0002020
4041	LRP5	Intellectual disability, mild	HP:0001256
4041	LRP5	Abdominal pain	HP:0002027
4041	LRP5	Tractional retinal detachment	HP:0007917
4041	LRP5	Delayed speech and language development	HP:0000750
4041	LRP5	Small for gestational age	HP:0001518
4041	LRP5	Global developmental delay	HP:0001263
4041	LRP5	Reduced visual acuity	HP:0007663
4041	LRP5	Abnormal form of the vertebral bodies	HP:0003312
4041	LRP5	Infantile muscular hypotonia	HP:0008947
4041	LRP5	Incomplete penetrance	HP:0003829
4041	LRP5	Increased total bilirubin	HP:0003573
4041	LRP5	Brachycephaly	HP:0000248
4041	LRP5	Increased bone mineral density	HP:0011001
4041	LRP5	Visual impairment	HP:0000505
4041	LRP5	Osteopetrosis	HP:0011002
4041	LRP5	Sclerotic vertebral body	HP:0100861
4041	LRP5	Microcephaly	HP:0000252
4043	LRPAP1	Autosomal recessive inheritance	HP:0000007
4043	LRPAP1	Increased axial length of the globe	HP:0007800
4043	LRPAP1	Visual impairment	HP:0000505
4043	LRPAP1	High myopia	HP:0011003
4043	LRPAP1	Reduced visual acuity	HP:0007663
4047	LSS	Sparse and thin eyebrow	HP:0000535
4047	LSS	Sparse body hair	HP:0002231
4047	LSS	Developmental cataract	HP:0000519
4047	LSS	Autosomal recessive inheritance	HP:0000007
4047	LSS	Alopecia	HP:0001596
4047	LSS	Visual loss	HP:0000572
4047	LSS	Sparse eyelashes	HP:0000653
4047	LSS	Hypotrichosis of the scalp	HP:0004782
4047	LSS	Hypotrichosis	HP:0001006
4053	LTBP2	Brachydactyly	HP:0001156
4053	LTBP2	Cataract	HP:0000518
4053	LTBP2	Autosomal recessive inheritance	HP:0000007
4053	LTBP2	Primary congenital glaucoma	HP:0008007
4053	LTBP2	Shallow anterior chamber	HP:0000594
4053	LTBP2	Iridodonesis	HP:0100693
4053	LTBP2	Corneal opacity	HP:0007957
4053	LTBP2	Deep anterior chamber	HP:0007765
4053	LTBP2	High palate	HP:0000218
4053	LTBP2	Nevus flammeus	HP:0001052
4053	LTBP2	Hypermetropia	HP:0000540
4053	LTBP2	Retinal detachment	HP:0000541
4053	LTBP2	Ventricular septal defect	HP:0001629
4053	LTBP2	Limitation of joint mobility	HP:0001376
4053	LTBP2	Myopia	HP:0000545
4053	LTBP2	Short stature	HP:0004322
4053	LTBP2	Ocular hypertension	HP:0007906
4053	LTBP2	Photophobia	HP:0000613
4053	LTBP2	Megalocornea	HP:0000485
4053	LTBP2	Intellectual disability, mild	HP:0001256
4053	LTBP2	Pulmonic stenosis	HP:0001642
4053	LTBP2	Joint stiffness	HP:0001387
4053	LTBP2	Thickened skin	HP:0001072
4053	LTBP2	Microspherophakia	HP:0030961
4053	LTBP2	Aortic valve stenosis	HP:0001650
4053	LTBP2	Short thumb	HP:0009778
4053	LTBP2	Glaucoma	HP:0000501
4053	LTBP2	Mitral regurgitation	HP:0001653
4053	LTBP2	Ectopia lentis	HP:0001083
4053	LTBP2	High myopia	HP:0011003
4053	LTBP2	Visual loss	HP:0000572
4053	LTBP2	Pectus excavatum	HP:0000767
4054	LTBP3	Short metacarpal	HP:0010049
4054	LTBP3	Intervertebral space narrowing	HP:0002945
4054	LTBP3	Amelogenesis imperfecta	HP:0000705
4054	LTBP3	Narrow vertebral interpedicular distance	HP:0008450
4054	LTBP3	Brachydactyly	HP:0001156
4054	LTBP3	Abnormality of femur morphology	HP:0002823
4054	LTBP3	Autosomal recessive inheritance	HP:0000007
4054	LTBP3	Hypoplasia of the maxilla	HP:0000327
4054	LTBP3	Hoarse voice	HP:0001609
4054	LTBP3	Fifth metacarpal with ulnar notch	HP:0005900
4054	LTBP3	Long eyelashes	HP:0000527
4054	LTBP3	Anteverted nares	HP:0000463
4054	LTBP3	Abnormal eyebrow morphology	HP:0000534
4054	LTBP3	Long philtrum	HP:0000343
4054	LTBP3	Bulbous nose	HP:0000414
4054	LTBP3	Platyspondyly	HP:0000926
4054	LTBP3	Narrow mouth	HP:0000160
4054	LTBP3	Depressed nasal bridge	HP:0005280
4054	LTBP3	Epiphyseal dysplasia	HP:0002656
4054	LTBP3	Limb undergrowth	HP:0009826
4054	LTBP3	Mitral valve prolapse	HP:0001634
4054	LTBP3	Short stature	HP:0004322
4054	LTBP3	Ovoid vertebral bodies	HP:0003300
4054	LTBP3	Oligodontia	HP:0000677
4054	LTBP3	Hypertrichosis	HP:0000998
4054	LTBP3	Abnormality of epiphysis morphology	HP:0005930
4054	LTBP3	Pneumonia	HP:0002090
4054	LTBP3	Joint stiffness	HP:0001387
4054	LTBP3	Wide nasal bridge	HP:0000431
4054	LTBP3	Mandibular prognathia	HP:0000303
4054	LTBP3	Widely spaced teeth	HP:0000687
4054	LTBP3	Thick lower lip vermilion	HP:0000179
4054	LTBP3	Microdontia	HP:0000691
4054	LTBP3	Small hand	HP:0200055
4054	LTBP3	Severe short stature	HP:0003510
4054	LTBP3	Short palm	HP:0004279
4054	LTBP3	Round face	HP:0000311
4054	LTBP3	Herniation of intervertebral nuclei	HP:0008441
4054	LTBP3	Decreased nerve conduction velocity	HP:0000762
4054	LTBP3	Short nose	HP:0003196
4054	LTBP3	Delayed skeletal maturation	HP:0002750
4054	LTBP3	Respiratory failure	HP:0002878
4056	LTC4S	Death in infancy	HP:0001522
4056	LTC4S	Muscular hypotonia	HP:0001252
4056	LTC4S	Reduced circulating leukotriene C4 concentration	HP:0030390
4056	LTC4S	Autosomal recessive inheritance	HP:0000007
4056	LTC4S	Failure to thrive in infancy	HP:0001531
4056	LTC4S	Microcephaly	HP:0000252
4056	LTC4S	Global developmental delay	HP:0001263
4068	SH2D1A	Hepatomegaly	HP:0002240
4068	SH2D1A	Immunodeficiency	HP:0002721
4068	SH2D1A	Meningitis	HP:0001287
4068	SH2D1A	Increased circulating IgM level	HP:0003496
4068	SH2D1A	Lymphoma	HP:0002665
4068	SH2D1A	Recurrent pharyngitis	HP:0100776
4068	SH2D1A	X-linked recessive inheritance	HP:0001419
4068	SH2D1A	Anemia	HP:0001903
4068	SH2D1A	Encephalitis	HP:0002383
4068	SH2D1A	Splenomegaly	HP:0001744
4068	SH2D1A	Hepatic encephalopathy	HP:0002480
4068	SH2D1A	Thrombocytopenia	HP:0001873
4068	SH2D1A	Reduced natural killer cell activity	HP:0012178
4068	SH2D1A	Fulminant hepatitis	HP:0004787
4068	SH2D1A	Pancytopenia	HP:0001876
4068	SH2D1A	Decreased antibody level in blood	HP:0004313
4068	SH2D1A	Lymphocytosis	HP:0100827
4068	SH2D1A	Decreased circulating IgG level	HP:0004315
4068	SH2D1A	Lymphadenopathy	HP:0002716
4068	SH2D1A	Cellular immunodeficiency	HP:0005374
4069	LYZ	Nephropathy	HP:0000112
4069	LYZ	Hepatomegaly	HP:0002240
4069	LYZ	Generalized amyloid deposition	HP:0003216
4069	LYZ	Splenomegaly	HP:0001744
4069	LYZ	Cholestasis	HP:0001396
4069	LYZ	Nephrotic syndrome	HP:0000100
4069	LYZ	Hypertension	HP:0000822
4069	LYZ	Hematuria	HP:0000790
4069	LYZ	Autosomal dominant inheritance	HP:0000006
4069	LYZ	Edema	HP:0000969
4069	LYZ	Skin rash	HP:0000988
4069	LYZ	Proteinuria	HP:0000093
4070	TACSTD2	Photophobia	HP:0000613
4070	TACSTD2	Autosomal recessive inheritance	HP:0000007
4070	TACSTD2	Childhood onset	HP:0011463
4070	TACSTD2	Corneal dystrophy	HP:0001131
4070	TACSTD2	Blurred vision	HP:0000622
4070	TACSTD2	Reduced visual acuity	HP:0007663
4072	EPCAM	Death in early adulthood	HP:0100613
4072	EPCAM	Ovarian neoplasm	HP:0100615
4072	EPCAM	Neoplasm of the rectum	HP:0100743
4072	EPCAM	Autosomal recessive inheritance	HP:0000007
4072	EPCAM	Gait disturbance	HP:0001288
4072	EPCAM	Glioblastoma multiforme	HP:0012174
4072	EPCAM	Hemiplegia/hemiparesis	HP:0004374
4072	EPCAM	Agnosia	HP:0010524
4072	EPCAM	Migraine	HP:0002076
4072	EPCAM	Dysgraphia	HP:0010526
4072	EPCAM	Weight loss	HP:0001824
4072	EPCAM	Urinary tract neoplasm	HP:0010786
4072	EPCAM	Memory impairment	HP:0002354
4072	EPCAM	Dyskinesia	HP:0100660
4072	EPCAM	Colon cancer	HP:0003003
4072	EPCAM	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
4072	EPCAM	Neuroblastoma	HP:0003006
4072	EPCAM	Neoplasm of the thyroid gland	HP:0100031
4072	EPCAM	Gastrointestinal hemorrhage	HP:0002239
4072	EPCAM	Pancreatic adenocarcinoma	HP:0006725
4072	EPCAM	Developmental regression	HP:0002376
4072	EPCAM	Paresthesia	HP:0003401
4072	EPCAM	Intestinal polyposis	HP:0200008
4072	EPCAM	Depressivity	HP:0000716
4072	EPCAM	Pituitary adenoma	HP:0002893
4072	EPCAM	Villous atrophy	HP:0011473
4072	EPCAM	Increased intracranial pressure	HP:0002516
4072	EPCAM	Abnormal pyramidal sign	HP:0007256
4072	EPCAM	Arthritis	HP:0001369
4072	EPCAM	Cardiac diverticulum	HP:0100571
4072	EPCAM	Fatigue	HP:0012378
4072	EPCAM	Flexion contracture	HP:0001371
4072	EPCAM	Nausea and vomiting	HP:0002017
4072	EPCAM	Irritability	HP:0000737
4072	EPCAM	Amaurosis fugax	HP:0100576
4072	EPCAM	Hallucinations	HP:0000738
4072	EPCAM	Seizures	HP:0001250
4072	EPCAM	Benign neoplasm of the central nervous system	HP:0100835
4072	EPCAM	Visual field defect	HP:0001123
4072	EPCAM	Anxiety	HP:0000739
4072	EPCAM	Constipation	HP:0002019
4072	EPCAM	Failure to thrive	HP:0001508
4072	EPCAM	Muscular hypotonia	HP:0001252
4072	EPCAM	Malabsorption	HP:0002024
4072	EPCAM	Attention deficit hyperactivity disorder	HP:0007018
4072	EPCAM	Abdominal pain	HP:0002027
4072	EPCAM	Dysarthria	HP:0001260
4072	EPCAM	Small for gestational age	HP:0001518
4072	EPCAM	Basal cell carcinoma	HP:0002671
4072	EPCAM	Death in infancy	HP:0001522
4072	EPCAM	Intractable diarrhea	HP:0002041
4072	EPCAM	Hepatocellular carcinoma	HP:0001402
4072	EPCAM	Hypertonia	HP:0001276
4072	EPCAM	Neoplasm of the skeletal system	HP:0010622
4088	SMAD3	Pectus carinatum	HP:0000768
4088	SMAD3	Umbilical hernia	HP:0001537
4088	SMAD3	Carotid artery dilatation	HP:0012163
4088	SMAD3	Osteochondritis Dissecans	HP:0010886
4088	SMAD3	Autosomal dominant inheritance	HP:0000006
4088	SMAD3	Cataract	HP:0000518
4088	SMAD3	Proptosis	HP:0000520
4088	SMAD3	Uterine prolapse	HP:0000139
4088	SMAD3	Camptodactyly of finger	HP:0100490
4088	SMAD3	Hip osteoarthritis	HP:0008843
4088	SMAD3	Chest pain	HP:0100749
4088	SMAD3	Dolichocephaly	HP:0000268
4088	SMAD3	Coronary artery atherosclerosis	HP:0001677
4088	SMAD3	Abnormality iris morphology	HP:0000525
4088	SMAD3	Arachnodactyly	HP:0001166
4088	SMAD3	Abnormality of bladder morphology	HP:0025487
4088	SMAD3	Malar flattening	HP:0000272
4088	SMAD3	Chronic fatigue	HP:0012432
4088	SMAD3	High, narrow palate	HP:0002705
4088	SMAD3	Long face	HP:0000276
4088	SMAD3	Retrognathia	HP:0000278
4088	SMAD3	Transient ischemic attack	HP:0002326
4088	SMAD3	Cervical spine instability	HP:0010646
4088	SMAD3	Inguinal hernia	HP:0000023
4088	SMAD3	Dermal translucency	HP:0010648
4088	SMAD3	Migraine	HP:0002076
4088	SMAD3	Aortic tortuosity	HP:0006687
4088	SMAD3	Eosinophilic infiltration of the esophagus	HP:0410151
4088	SMAD3	Sudden death	HP:0001699
4088	SMAD3	Dural ectasia	HP:0100775
4088	SMAD3	Striae distensae	HP:0001065
4088	SMAD3	Left ventricular dysfunction	HP:0005162
4088	SMAD3	Osteoporosis	HP:0000939
4088	SMAD3	Osteoarthritis of the small joints of the hand	HP:0004268
4088	SMAD3	Arterial dissection	HP:0005294
4088	SMAD3	Cleft palate	HP:0000175
4088	SMAD3	Left ventricular hypertrophy	HP:0001712
4088	SMAD3	Dental malocclusion	HP:0000689
4088	SMAD3	Atrophic scars	HP:0001075
4088	SMAD3	Hypertension	HP:0000822
4088	SMAD3	Aortic root aneurysm	HP:0002616
4088	SMAD3	Hemoptysis	HP:0002105
4088	SMAD3	Pneumothorax	HP:0002107
4088	SMAD3	Exertional dyspnea	HP:0002875
4088	SMAD3	Varicose veins	HP:0002619
4088	SMAD3	Hypertelorism	HP:0000316
4088	SMAD3	Bifid uvula	HP:0000193
4088	SMAD3	Exotropia	HP:0000577
4088	SMAD3	Ascending aortic dissection	HP:0004933
4088	SMAD3	Cutis marmorata	HP:0000965
4088	SMAD3	Dilatation of the cerebral artery	HP:0004944
4088	SMAD3	Mucoid extracellular matrix accumulation	HP:0200146
4088	SMAD3	Soft skin	HP:0000977
4088	SMAD3	Bruising susceptibility	HP:0000978
4088	SMAD3	Descending aortic dissection	HP:0012499
4088	SMAD3	Craniosynostosis	HP:0001363
4088	SMAD3	Peripheral arterial stenosis	HP:0004950
4088	SMAD3	Aortic dissection	HP:0002647
4088	SMAD3	Scoliosis	HP:0002650
4088	SMAD3	High palate	HP:0000218
4088	SMAD3	Subarachnoid hemorrhage	HP:0002138
4088	SMAD3	Atypical scarring of skin	HP:0000987
4088	SMAD3	Paroxysmal dyspnea	HP:0012763
4088	SMAD3	High forehead	HP:0000348
4088	SMAD3	Ischemic stroke	HP:0002140
4088	SMAD3	Knee osteoarthritis	HP:0005086
4088	SMAD3	Descending thoracic aorta aneurysm	HP:0004959
4088	SMAD3	Camptodactyly	HP:0012385
4088	SMAD3	Hypovolemia	HP:0011106
4088	SMAD3	Tall stature	HP:0000098
4088	SMAD3	Talipes equinovarus	HP:0001762
4088	SMAD3	Mitral valve prolapse	HP:0001634
4088	SMAD3	Intervertebral disc degeneration	HP:0008419
4088	SMAD3	Pes planus	HP:0001763
4088	SMAD3	Spondylolisthesis	HP:0003302
4088	SMAD3	Cardiomegaly	HP:0001640
4088	SMAD3	Pulmonic stenosis	HP:0001642
4088	SMAD3	Patent ductus arteriosus	HP:0001643
4088	SMAD3	Protrusio acetabuli	HP:0003179
4088	SMAD3	Joint laxity	HP:0001388
4088	SMAD3	Disproportionate tall stature	HP:0001519
4088	SMAD3	Bicuspid aortic valve	HP:0001647
4088	SMAD3	Mitral regurgitation	HP:0001653
4088	SMAD3	Atrial fibrillation	HP:0005110
4088	SMAD3	Abdominal aortic aneurysm	HP:0005112
4088	SMAD3	Aortic regurgitation	HP:0001659
4088	SMAD3	Arterial tortuosity	HP:0005116
4088	SMAD3	Dilatation of the sinus of Valsalva	HP:0011645
4088	SMAD3	Prenatal maternal abnormality	HP:0002686
4088	SMAD3	Abnormality of the sternum	HP:0000766
4088	SMAD3	Pectus excavatum	HP:0000767
4089	SMAD4	Macrocephaly	HP:0000256
4089	SMAD4	Hypoalbuminemia	HP:0003073
4089	SMAD4	Abnormality of the ribs	HP:0000772
4089	SMAD4	Autosomal dominant inheritance	HP:0000006
4089	SMAD4	Cataract	HP:0000518
4089	SMAD4	Conjunctival telangiectasia	HP:0000524
4089	SMAD4	Hematochezia	HP:0002573
4089	SMAD4	Enlarged vertebral pedicles	HP:0004621
4089	SMAD4	Intussusception	HP:0002576
4089	SMAD4	Malar flattening	HP:0000272
4089	SMAD4	Stroke	HP:0001297
4089	SMAD4	Nephrolithiasis	HP:0000787
4089	SMAD4	Hematuria	HP:0000790
4089	SMAD4	Transient ischemic attack	HP:0002326
4089	SMAD4	Inguinal hernia	HP:0000023
4089	SMAD4	Midface retrusion	HP:0011800
4089	SMAD4	Cavernous hemangioma	HP:0001048
4089	SMAD4	Cryptorchidism	HP:0000028
4089	SMAD4	Migraine	HP:0002076
4089	SMAD4	Hypermetropia	HP:0000540
4089	SMAD4	Laryngotracheal stenosis	HP:0004894
4089	SMAD4	Weight loss	HP:0001824
4089	SMAD4	Intestinal pseudo-obstruction	HP:0004389
4089	SMAD4	Hamartomatous polyposis	HP:0004390
4089	SMAD4	Epispadias	HP:0000039
4089	SMAD4	Short toe	HP:0001831
4089	SMAD4	Multiple gastric polyps	HP:0004394
4089	SMAD4	Abnormality of epiphysis morphology	HP:0005930
4089	SMAD4	Poor appetite	HP:0004396
4089	SMAD4	Pulmonary arterial hypertension	HP:0002092
4089	SMAD4	Melanoma	HP:0002861
4089	SMAD4	Extrahepatic cholestasis	HP:0012334
4089	SMAD4	Mandibular prognathia	HP:0000303
4089	SMAD4	Hypospadias	HP:0000047
4089	SMAD4	Specific learning disability	HP:0001328
4089	SMAD4	Thickened skin	HP:0001072
4089	SMAD4	Hypoplastic iliac wing	HP:0002866
4089	SMAD4	High hypermetropia	HP:0008499
4089	SMAD4	Diabetes mellitus	HP:0000819
4089	SMAD4	Overlapping toe	HP:0001845
4089	SMAD4	Hypertension	HP:0000822
4089	SMAD4	Microphthalmia	HP:0000568
4089	SMAD4	Cholelithiasis	HP:0001081
4089	SMAD4	Hemoptysis	HP:0002105
4089	SMAD4	Precocious puberty	HP:0000826
4089	SMAD4	Cholecystitis	HP:0001082
4089	SMAD4	Hypertelorism	HP:0000316
4089	SMAD4	Cerebral hemorrhage	HP:0001342
4089	SMAD4	Thick eyebrow	HP:0000574
4089	SMAD4	Respiratory failure	HP:0002878
4089	SMAD4	Short philtrum	HP:0000322
4089	SMAD4	Blepharophimosis	HP:0000581
4089	SMAD4	Pancreatic adenocarcinoma	HP:0006725
4089	SMAD4	Hypoplasia of the maxilla	HP:0000327
4089	SMAD4	Venous thrombosis	HP:0004936
4089	SMAD4	Abnormality of the voice	HP:0001608
4089	SMAD4	Intestinal polyposis	HP:0200008
4089	SMAD4	Neoplasm of the pancreas	HP:0002894
4089	SMAD4	Aortic aneurysm	HP:0004942
4089	SMAD4	Neoplasm of the liver	HP:0002896
4089	SMAD4	Retinal telangiectasia	HP:0007763
4089	SMAD4	Cone-shaped epiphysis	HP:0010579
4089	SMAD4	2-3 toe syndactyly	HP:0004691
4089	SMAD4	Hypokalemia	HP:0002900
4089	SMAD4	Aortic dissection	HP:0002647
4089	SMAD4	Back pain	HP:0003418
4089	SMAD4	Subarachnoid hemorrhage	HP:0002138
4089	SMAD4	Ventricular septal defect	HP:0001629
4089	SMAD4	Elevated hepatic transaminase	HP:0002910
4089	SMAD4	Atrial septal defect	HP:0001631
4089	SMAD4	Limitation of joint mobility	HP:0001376
4089	SMAD4	Camptodactyly	HP:0012385
4089	SMAD4	Mitral valve prolapse	HP:0001634
4089	SMAD4	Congestive heart failure	HP:0001635
4089	SMAD4	Abnormality of the pubic bone	HP:0003172
4089	SMAD4	Stiff skin	HP:0030053
4089	SMAD4	Microtia	HP:0008551
4089	SMAD4	Cerebral arteriovenous malformation	HP:0002408
4089	SMAD4	Joint stiffness	HP:0001387
4089	SMAD4	Patent ductus arteriosus	HP:0001643
4089	SMAD4	Hearing impairment	HP:0000365
4089	SMAD4	Anemia	HP:0001903
4089	SMAD4	Gastrointestinal carcinoma	HP:0002672
4089	SMAD4	Low-set ears	HP:0000369
4089	SMAD4	Large iliac wings	HP:0008818
4089	SMAD4	Cirrhosis	HP:0001394
4089	SMAD4	Aortic valve stenosis	HP:0001650
4089	SMAD4	Duodenal adenocarcinoma	HP:0006771
4089	SMAD4	Mitral regurgitation	HP:0001653
4089	SMAD4	Broad ribs	HP:0000885
4089	SMAD4	Hepatic failure	HP:0001399
4089	SMAD4	Thickened calvaria	HP:0002684
4089	SMAD4	Skeletal muscle hypertrophy	HP:0003712
4089	SMAD4	EMG abnormality	HP:0003457
4089	SMAD4	Functional intestinal obstruction	HP:0005249
4089	SMAD4	Portal hypertension	HP:0001409
4089	SMAD4	Brachydactyly	HP:0001156
4089	SMAD4	Vertebral fusion	HP:0002948
4089	SMAD4	Clinodactyly	HP:0030084
4089	SMAD4	Amblyopia	HP:0000646
4089	SMAD4	Sparse hair	HP:0008070
4089	SMAD4	Abnormal cardiac septum morphology	HP:0001671
4089	SMAD4	Hypogonadism	HP:0000135
4089	SMAD4	Generalized muscle hypertrophy	HP:0003720
4089	SMAD4	Craniofacial hyperostosis	HP:0004493
4089	SMAD4	Microcytic anemia	HP:0001935
4089	SMAD4	Chronic fatigue	HP:0012432
4089	SMAD4	Coarctation of aorta	HP:0001680
4089	SMAD4	Somatic mutation	HP:0001428
4089	SMAD4	Pulmonary arteriovenous malformation	HP:0006548
4089	SMAD4	Visceral angiomatosis	HP:0100761
4089	SMAD4	Hepatosplenomegaly	HP:0001433
4089	SMAD4	Lymphadenopathy	HP:0002716
4089	SMAD4	Pulmonary embolism	HP:0002204
4089	SMAD4	Platyspondyly	HP:0000926
4089	SMAD4	Narrow mouth	HP:0000160
4089	SMAD4	Pericardial effusion	HP:0001698
4089	SMAD4	Epistaxis	HP:0000421
4089	SMAD4	Short finger	HP:0009381
4089	SMAD4	Fine hair	HP:0002213
4089	SMAD4	Cleft lip	HP:0410030
4089	SMAD4	External genital hypoplasia	HP:0003241
4089	SMAD4	Prominent nasal bridge	HP:0000426
4089	SMAD4	Hepatic arteriovenous malformation	HP:0006574
4089	SMAD4	Cleft palate	HP:0000175
4089	SMAD4	Submucous cleft hard palate	HP:0000176
4089	SMAD4	Abnormality of the metaphysis	HP:0000944
4089	SMAD4	Juvenile gastrointestinal polyposis	HP:0004784
4089	SMAD4	Peripheral arteriovenous fistula	HP:0100784
4089	SMAD4	Severe short stature	HP:0003510
4089	SMAD4	Short palm	HP:0004279
4089	SMAD4	Jaundice	HP:0000952
4089	SMAD4	Breast carcinoma	HP:0003002
4089	SMAD4	Colon cancer	HP:0003003
4089	SMAD4	Femoral hernia	HP:0100541
4089	SMAD4	Gastrointestinal hemorrhage	HP:0002239
4089	SMAD4	Clubbing	HP:0001217
4089	SMAD4	Bifid uvula	HP:0000193
4089	SMAD4	Behavioral abnormality	HP:0000708
4089	SMAD4	Short palpebral fissure	HP:0012745
4089	SMAD4	Exocrine pancreatic insufficiency	HP:0001738
4089	SMAD4	Autism	HP:0000717
4089	SMAD4	Intermittent diarrhea	HP:0002254
4089	SMAD4	Short long bone	HP:0003026
4089	SMAD4	Increased level of L-fucose in urine	HP:0410067
4089	SMAD4	Short neck	HP:0000470
4089	SMAD4	Thin upper lip vermilion	HP:0000219
4089	SMAD4	Intellectual disability	HP:0001249
4089	SMAD4	Nausea and vomiting	HP:0002017
4089	SMAD4	Narrow palpebral fissure	HP:0045025
4089	SMAD4	Gingival cleft	HP:0030690
4089	SMAD4	Seizures	HP:0001250
4089	SMAD4	Short stature	HP:0004322
4089	SMAD4	Ataxia	HP:0001251
4089	SMAD4	Failure to thrive	HP:0001508
4089	SMAD4	Ovarian carcinoma	HP:0025318
4089	SMAD4	Strabismus	HP:0000486
4089	SMAD4	Intrauterine growth retardation	HP:0001511
4089	SMAD4	Telangiectasia of the skin	HP:0100585
4089	SMAD4	Thin vermilion border	HP:0000233
4089	SMAD4	Birth length less than 3rd percentile	HP:0003561
4089	SMAD4	Obesity	HP:0001513
4089	SMAD4	Deeply set eye	HP:0000490
4089	SMAD4	Abdominal pain	HP:0002027
4089	SMAD4	Unilateral cleft lip	HP:0100333
4089	SMAD4	Small for gestational age	HP:0001518
4089	SMAD4	Global developmental delay	HP:0001263
4089	SMAD4	Telangiectasia	HP:0001009
4089	SMAD4	Peritoneal abscess	HP:0100592
4089	SMAD4	Rectal prolapse	HP:0002035
4089	SMAD4	Anorexia	HP:0002039
4089	SMAD4	Esophageal varix	HP:0002040
4089	SMAD4	Radial deviation of finger	HP:0009466
4089	SMAD4	Ptosis	HP:0000508
4089	SMAD4	Spontaneous hematomas	HP:0007420
4089	SMAD4	Microcephaly	HP:0000252
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	Abnormal left ventricular outflow tract morphology	HP:0011103
4091	SMAD6	Hypoplastic left heart	HP:0004383
4093	SMAD9	Increased pulmonary vascular resistance	HP:0005317
4093	SMAD9	Incomplete penetrance	HP:0003829
4093	SMAD9	Autosomal dominant inheritance	HP:0000006
4093	SMAD9	Progressive	HP:0003676
4093	SMAD9	Pulmonary arterial hypertension	HP:0002092
4094	MAF	Brachydactyly	HP:0001156
4094	MAF	Craniofacial asymmetry	HP:0004484
4094	MAF	Autosomal dominant inheritance	HP:0000006
4094	MAF	Cataract	HP:0000518
4094	MAF	Developmental cataract	HP:0000519
4094	MAF	Cerebral atrophy	HP:0002059
4094	MAF	Delayed cranial suture closure	HP:0000270
4094	MAF	Malar flattening	HP:0000272
4094	MAF	Corneal opacity	HP:0007957
4094	MAF	Sensorineural hearing impairment	HP:0000407
4094	MAF	Midface retrusion	HP:0011800
4094	MAF	Retinal detachment	HP:0000541
4094	MAF	Radioulnar synostosis	HP:0002974
4094	MAF	Tapered finger	HP:0001182
4094	MAF	Narrow mouth	HP:0000160
4094	MAF	Depressed nasal bridge	HP:0005280
4094	MAF	Sparse scalp hair	HP:0002209
4094	MAF	Broad philtrum	HP:0000289
4094	MAF	Myopia	HP:0000545
4094	MAF	Abnormality of the dentition	HP:0000164
4094	MAF	Pericarditis	HP:0001701
4094	MAF	Cerulean cataract	HP:0007976
4094	MAF	Mandibular prognathia	HP:0000303
4094	MAF	Wide nasal bridge	HP:0000431
4094	MAF	Arnold-Chiari type I malformation	HP:0007099
4094	MAF	Hypertelorism	HP:0000316
4094	MAF	Smooth philtrum	HP:0000319
4094	MAF	Upslanted palpebral fissure	HP:0000582
4094	MAF	Macular hypoplasia	HP:0001104
4094	MAF	Flat face	HP:0012368
4094	MAF	Nail dystrophy	HP:0008404
4094	MAF	Long philtrum	HP:0000343
4094	MAF	Thin upper lip vermilion	HP:0000219
4094	MAF	High forehead	HP:0000348
4094	MAF	Broad eyebrow	HP:0011229
4094	MAF	Intellectual disability	HP:0001249
4094	MAF	Camptodactyly	HP:0012385
4094	MAF	Microcornea	HP:0000482
4094	MAF	Seizures	HP:0001250
4094	MAF	Short stature	HP:0004322
4094	MAF	Cortical pulverulent cataract	HP:0007780
4094	MAF	Iris coloboma	HP:0000612
4094	MAF	Posteriorly rotated ears	HP:0000358
4094	MAF	Microtia	HP:0008551
4094	MAF	Corneal dystrophy	HP:0001131
4094	MAF	Hearing impairment	HP:0000365
4094	MAF	Downslanted palpebral fissures	HP:0000494
4094	MAF	Low-set ears	HP:0000369
4094	MAF	Brachycephaly	HP:0000248
4094	MAF	Ptosis	HP:0000508
4094	MAF	Short nose	HP:0003196
4094	MAF	Pectus excavatum	HP:0000767
4094	MAF	Nystagmus	HP:0000639
4099	MAG	Ventriculomegaly	HP:0002119
4099	MAG	Autosomal recessive inheritance	HP:0000007
4099	MAG	Optic atrophy	HP:0000648
4099	MAG	Spastic paraparesis	HP:0002313
4099	MAG	Generalized hypotonia	HP:0001290
4099	MAG	Corpus callosum atrophy	HP:0007371
4099	MAG	Areflexia of lower limbs	HP:0002522
4099	MAG	Hypermetropia	HP:0000540
4099	MAG	Slow progression	HP:0003677
4099	MAG	Dysmetria	HP:0001310
4099	MAG	Babinski sign	HP:0003487
4099	MAG	Temporal optic disc pallor	HP:0012511
4099	MAG	Spastic dysarthria	HP:0002464
4099	MAG	Intellectual disability	HP:0001249
4099	MAG	Astigmatism	HP:0000483
4099	MAG	Peripheral neuropathy	HP:0009830
4099	MAG	Neonatal hypotonia	HP:0001319
4099	MAG	Hyporeflexia of lower limbs	HP:0002600
4099	MAG	Spastic paraplegia	HP:0001258
4099	MAG	Titubation	HP:0030187
4099	MAG	Global developmental delay	HP:0001263
4099	MAG	Reduced visual acuity	HP:0007663
4099	MAG	Distal lower limb amyotrophy	HP:0008944
4099	MAG	Hyporeflexia	HP:0001265
4099	MAG	Glaucoma	HP:0000501
4099	MAG	Cerebellar atrophy	HP:0001272
4099	MAG	Cognitive impairment	HP:0100543
4099	MAG	Nystagmus	HP:0000639
4099	MAG	Impaired vibratory sensation	HP:0002495
339983	NAT8L	Short attention span	HP:0000736
339983	NAT8L	Short stature	HP:0004322
339983	NAT8L	Seizures	HP:0001250
339983	NAT8L	Decreased body weight	HP:0004325
339983	NAT8L	Self-mutilation	HP:0000742
339983	NAT8L	Autosomal recessive inheritance	HP:0000007
339983	NAT8L	Generalized hypotonia	HP:0001290
339983	NAT8L	Unsteady gait	HP:0002317
339983	NAT8L	Global developmental delay	HP:0001263
339983	NAT8L	Inguinal hernia	HP:0000023
339983	NAT8L	Microcephaly	HP:0000252
339983	NAT8L	Stereotypy	HP:0000733
339983	NAT8L	Truncal ataxia	HP:0002078
348180	CTU2	Postaxial polydactyly	HP:0100259
348180	CTU2	Seizures	HP:0001250
348180	CTU2	Preaxial polydactyly	HP:0100258
348180	CTU2	Upslanted palpebral fissure	HP:0000582
348180	CTU2	Generalized hypotonia	HP:0001290
348180	CTU2	Patent ductus arteriosus	HP:0001643
348180	CTU2	Macrotia	HP:0000400
348180	CTU2	Bilateral talipes equinovarus	HP:0001776
348180	CTU2	Low-set ears	HP:0000369
348180	CTU2	Narrow forehead	HP:0000341
348180	CTU2	Retrognathia	HP:0000278
348180	CTU2	Micropenis	HP:0000054
348180	CTU2	Brachycephaly	HP:0000248
348180	CTU2	Highly arched eyebrow	HP:0002553
348180	CTU2	Unilateral renal agenesis	HP:0000122
348180	CTU2	Lissencephaly	HP:0001339
348180	CTU2	Micrognathia	HP:0000347
348180	CTU2	Hypertelorism	HP:0000316
348180	CTU2	Microcephaly	HP:0000252
348180	CTU2	Overlapping fingers	HP:0010557
348180	CTU2	Ventricular septal defect	HP:0001629
348180	CTU2	Ambiguous genitalia	HP:0000062
348180	CTU2	Atrial septal defect	HP:0001631
348180	CTU2	Dimple chin	HP:0010751
4117	MAK	Abnormal electroretinogram	HP:0000512
4117	MAK	Hyperreflexia	HP:0001347
4117	MAK	Cataract	HP:0000518
4117	MAK	Hypogonadism	HP:0000135
4117	MAK	Autosomal recessive inheritance	HP:0000007
4117	MAK	Optic atrophy	HP:0000648
4117	MAK	Hyperinsulinemia	HP:0000842
4117	MAK	Anteverted nares	HP:0000463
4117	MAK	Conductive hearing impairment	HP:0000405
4117	MAK	Nyctalopia	HP:0000662
4117	MAK	Sensorineural hearing impairment	HP:0000407
4117	MAK	Abnormality of retinal pigmentation	HP:0007703
4117	MAK	Ophthalmoplegia	HP:0000602
4117	MAK	Type II diabetes mellitus	HP:0005978
4117	MAK	Atypical scarring of skin	HP:0000987
4117	MAK	Optic disc pallor	HP:0000543
4117	MAK	Hypoplasia of penis	HP:0008736
4117	MAK	Intellectual disability	HP:0001249
4117	MAK	Abnormal testis morphology	HP:0000035
4117	MAK	Visual field defect	HP:0001123
4117	MAK	Photophobia	HP:0000613
4117	MAK	Obesity	HP:0001513
4117	MAK	Blindness	HP:0000618
4117	MAK	Abnormal retinal vascular morphology	HP:0008046
4117	MAK	Wide nasal bridge	HP:0000431
4117	MAK	Keratoconus	HP:0000563
4117	MAK	Glaucoma	HP:0000501
4117	MAK	Progressive night blindness	HP:0007675
4117	MAK	Rod-cone dystrophy	HP:0000510
4117	MAK	Nystagmus	HP:0000639
118813	ZFYVE27	Spastic gait	HP:0002064
118813	ZFYVE27	Talipes equinovarus	HP:0001762
118813	ZFYVE27	Autosomal dominant inheritance	HP:0000006
118813	ZFYVE27	Ankle clonus	HP:0011448
118813	ZFYVE27	Spastic paraplegia	HP:0001258
118813	ZFYVE27	Lower limb muscle weakness	HP:0007340
118813	ZFYVE27	Lower limb spasticity	HP:0002061
118813	ZFYVE27	Babinski sign	HP:0003487
4125	MAN2B1	Macrocephaly	HP:0000256
4125	MAN2B1	Pectus carinatum	HP:0000768
4125	MAN2B1	Vacuolated lymphocytes	HP:0001922
4125	MAN2B1	Autosomal recessive inheritance	HP:0000007
4125	MAN2B1	Generalized hypotonia	HP:0001290
4125	MAN2B1	Cerebral atrophy	HP:0002059
4125	MAN2B1	Abnormality of the rib cage	HP:0001547
4125	MAN2B1	Malar flattening	HP:0000272
4125	MAN2B1	Macrotia	HP:0000400
4125	MAN2B1	Gait ataxia	HP:0002066
4125	MAN2B1	Limb ataxia	HP:0002070
4125	MAN2B1	Inguinal hernia	HP:0000023
4125	MAN2B1	Sensorineural hearing impairment	HP:0000407
4125	MAN2B1	Midface retrusion	HP:0011800
4125	MAN2B1	Coarse facial features	HP:0000280
4125	MAN2B1	Epicanthus	HP:0000286
4125	MAN2B1	Macroglossia	HP:0000158
4125	MAN2B1	Recurrent bacterial infections	HP:0002718
4125	MAN2B1	Babinski sign	HP:0003487
4125	MAN2B1	Delayed myelination	HP:0012448
4125	MAN2B1	Retinal degeneration	HP:0000546
4125	MAN2B1	Femoral bowing	HP:0002980
4125	MAN2B1	Low anterior hairline	HP:0000294
4125	MAN2B1	Widely spaced teeth	HP:0000687
4125	MAN2B1	Dysostosis multiplex	HP:0000943
4125	MAN2B1	Mandibular prognathia	HP:0000303
4125	MAN2B1	Thick eyebrow	HP:0000574
4125	MAN2B1	Hepatomegaly	HP:0002240
4125	MAN2B1	Spinocerebellar tract disease in lower limbs	HP:0007232
4125	MAN2B1	Hyperreflexia	HP:0001347
4125	MAN2B1	Depressed nasal ridge	HP:0000457
4125	MAN2B1	Splenomegaly	HP:0001744
4125	MAN2B1	Broad forehead	HP:0000337
4125	MAN2B1	Gingival overgrowth	HP:0000212
4125	MAN2B1	Frontal bossing	HP:0002007
4125	MAN2B1	Decreased antibody level in blood	HP:0004313
4125	MAN2B1	Increased vertebral height	HP:0004570
4125	MAN2B1	Impaired smooth pursuit	HP:0007772
4125	MAN2B1	Flat occiput	HP:0005469
4125	MAN2B1	Intellectual disability	HP:0001249
4125	MAN2B1	Muscular hypotonia	HP:0001252
4125	MAN2B1	Hypertrichosis	HP:0000998
4125	MAN2B1	Growth delay	HP:0001510
4125	MAN2B1	Spondylolisthesis	HP:0003302
4125	MAN2B1	Spasticity	HP:0001257
4125	MAN2B1	Dysarthria	HP:0001260
4125	MAN2B1	Global developmental delay	HP:0001263
4125	MAN2B1	Thoracolumbar kyphosis	HP:0005619
4125	MAN2B1	Cerebellar atrophy	HP:0001272
4125	MAN2B1	Gliosis	HP:0002171
4125	MAN2B1	Thickened calvaria	HP:0002684
4125	MAN2B1	Nystagmus	HP:0000639
4126	MANBA	Intellectual disability	HP:0001249
4126	MANBA	Increased urinary disaccharide excretion	HP:0012066
4126	MANBA	Seizures	HP:0001250
4126	MANBA	Demyelinating peripheral neuropathy	HP:0007108
4126	MANBA	Autosomal recessive inheritance	HP:0000007
4126	MANBA	Generalized hypotonia	HP:0001290
4126	MANBA	Hearing impairment	HP:0000365
4126	MANBA	Aggressive behavior	HP:0000718
4126	MANBA	Abnormal facial shape	HP:0001999
4126	MANBA	Hyperactivity	HP:0000752
4126	MANBA	Abnormality of metabolism/homeostasis	HP:0001939
4126	MANBA	Angiokeratoma	HP:0001014
4126	MANBA	Tortuosity of conjunctival vessels	HP:0000503
4126	MANBA	Neurological speech impairment	HP:0002167
4126	MANBA	Recurrent respiratory infections	HP:0002205
4126	MANBA	Recurrent infections	HP:0002719
4126	MANBA	Hypoplasia of the abdominal wall musculature	HP:0005247
4128	MAOA	Intellectual disability	HP:0001249
4128	MAOA	Behavioral abnormality	HP:0000708
4128	MAOA	Motor delay	HP:0001270
4128	MAOA	Impulsivity	HP:0100710
4128	MAOA	Low frustration tolerance	HP:0000744
4128	MAOA	Kinetic tremor	HP:0030186
4128	MAOA	Headache	HP:0002315
4128	MAOA	X-linked recessive inheritance	HP:0001419
4128	MAOA	Self-injurious behavior	HP:0100716
4128	MAOA	Autism	HP:0000717
4128	MAOA	Cognitive impairment	HP:0100543
4128	MAOA	Aggressive behavior	HP:0000718
4137	MAPT	Akinesia	HP:0002304
4137	MAPT	Collectionism	HP:0030212
4137	MAPT	Emotional blunting	HP:0030213
4137	MAPT	Autosomal dominant inheritance	HP:0000006
4137	MAPT	Autosomal recessive inheritance	HP:0000007
4137	MAPT	Frontolimbic dementia	HP:0002439
4137	MAPT	Gait disturbance	HP:0001288
4137	MAPT	Neurofibrillary tangles	HP:0002185
4137	MAPT	Dyscalculia	HP:0002442
4137	MAPT	Apraxia	HP:0002186
4137	MAPT	Diplopia	HP:0000651
4137	MAPT	Visual agnosia	HP:0030222
4137	MAPT	Astrocytosis	HP:0002446
4137	MAPT	Morphological abnormality of the pyramidal tract	HP:0002062
4137	MAPT	Perseveration	HP:0030223
4137	MAPT	Rigidity	HP:0002063
4137	MAPT	Heterogeneous	HP:0001425
4137	MAPT	Eyelid apraxia	HP:0000658
4137	MAPT	Bradykinesia	HP:0002067
4137	MAPT	Limb dystonia	HP:0002451
4137	MAPT	Parkinsonism	HP:0001300
4137	MAPT	Generalized tonic-clonic seizures	HP:0002069
4137	MAPT	Abnormality of extrapyramidal motor function	HP:0002071
4137	MAPT	Dyslexia	HP:0010522
4137	MAPT	Alexia	HP:0010523
4137	MAPT	Brain atrophy	HP:0012444
4137	MAPT	Dysgraphia	HP:0010526
4137	MAPT	Language impairment	HP:0002463
4137	MAPT	Polyphagia	HP:0002591
4137	MAPT	Echolalia	HP:0010529
4137	MAPT	Sporadic	HP:0003745
4137	MAPT	Poor speech	HP:0002465
4137	MAPT	Senile plaques	HP:0100256
4137	MAPT	Primitive reflex	HP:0002476
4137	MAPT	Memory impairment	HP:0002354
4137	MAPT	Dysphasia	HP:0002357
4137	MAPT	Spoken Word Recognition Deficit	HP:0030391
4137	MAPT	Tremor	HP:0001337
4137	MAPT	Amyotrophic lateral sclerosis	HP:0007354
4137	MAPT	Upper motor neuron dysfunction	HP:0002493
4137	MAPT	Abnormal lower motor neuron morphology	HP:0002366
4137	MAPT	Kyphoscoliosis	HP:0002751
4137	MAPT	Anomia	HP:0030784
4137	MAPT	Inappropriate sexual behavior	HP:0008768
4137	MAPT	Grammar-specific speech disorder	HP:0006977
4137	MAPT	Loss of speech	HP:0002371
4137	MAPT	Hyperreflexia	HP:0001347
4137	MAPT	EEG with continuous slow activity	HP:0011204
4137	MAPT	Abnormality of the cerebral white matter	HP:0002500
4137	MAPT	Psychosis	HP:0000709
4137	MAPT	Hyperorality	HP:0000710
4137	MAPT	Restlessness	HP:0000711
4137	MAPT	Temporal cortical atrophy	HP:0007112
4137	MAPT	Fasciculations	HP:0002380
4137	MAPT	Depressivity	HP:0000716
4137	MAPT	Aphasia	HP:0002381
4137	MAPT	Aggressive behavior	HP:0000718
4137	MAPT	Inappropriate behavior	HP:0000719
4137	MAPT	Neuronal loss in basal ganglia	HP:0200147
4137	MAPT	Restrictive behavior	HP:0000723
4137	MAPT	Ophthalmoparesis	HP:0000597
4137	MAPT	Dementia	HP:0000726
4137	MAPT	Frontal lobe dementia	HP:0000727
4137	MAPT	Abnormal pyramidal sign	HP:0007256
4137	MAPT	Thickened nuchal skin fold	HP:0000474
4137	MAPT	Stereotypy	HP:0000733
4137	MAPT	Supranuclear gaze palsy	HP:0000605
4137	MAPT	Gait imbalance	HP:0002141
4137	MAPT	Disinhibition	HP:0000734
4137	MAPT	Dysphagia	HP:0002015
4137	MAPT	Falls	HP:0002527
4137	MAPT	Granulovacuolar degeneration	HP:0002528
4137	MAPT	Frontotemporal dementia	HP:0002145
4137	MAPT	Irritability	HP:0000737
4137	MAPT	Neuronal loss in central nervous system	HP:0002529
4137	MAPT	Axial dystonia	HP:0002530
4137	MAPT	Anxiety	HP:0000739
4137	MAPT	Apathy	HP:0000741
4137	MAPT	Photophobia	HP:0000613
4137	MAPT	Frontal release signs	HP:0000743
4137	MAPT	Inappropriate laughter	HP:0000748
4137	MAPT	Frontotemporal cerebral atrophy	HP:0006892
4137	MAPT	Dysarthria	HP:0001260
4137	MAPT	Blurred vision	HP:0000622
4137	MAPT	Personality changes	HP:0000751
4137	MAPT	Retrocollis	HP:0002544
4137	MAPT	Abnormal brain FDG positron emission tomography	HP:0012658
4137	MAPT	Lack of insight	HP:0000757
4137	MAPT	Gliosis	HP:0002171
4137	MAPT	Motor aphasia	HP:0002427
4137	MAPT	Mutism	HP:0002300
4137	MAPT	Adult onset	HP:0003581
4137	MAPT	Abulia	HP:0012671
4140	MARK3	Flat cornea	HP:0007720
4140	MARK3	Hypermetropia	HP:0000540
4140	MARK3	Ptosis	HP:0000508
4140	MARK3	Reduced visual acuity	HP:0007663
4141	MARS	Hepatomegaly	HP:0002240
4141	MARS	Clubbing	HP:0001217
4141	MARS	Interstitial pulmonary abnormality	HP:0006530
4141	MARS	Decreased liver function	HP:0001410
4141	MARS	Foot dorsiflexor weakness	HP:0009027
4141	MARS	Areflexia	HP:0001284
4141	MARS	Autosomal dominant inheritance	HP:0000006
4141	MARS	Autosomal recessive inheritance	HP:0000007
4141	MARS	Hand tremor	HP:0002378
4141	MARS	Acidosis	HP:0001941
4141	MARS	Peripheral axonal neuropathy	HP:0003477
4141	MARS	Aminoaciduria	HP:0003355
4141	MARS	Progressive	HP:0003676
4141	MARS	Slow progression	HP:0003677
4141	MARS	Elevated hepatic transaminase	HP:0002910
4141	MARS	Abnormal myelination	HP:0012447
4141	MARS	Failure to thrive	HP:0001508
4141	MARS	Nephrotic syndrome	HP:0000100
4141	MARS	Peripheral neuropathy	HP:0009830
4141	MARS	Intellectual disability, mild	HP:0001256
4141	MARS	Progressive spastic paraplegia	HP:0007020
4141	MARS	Respiratory insufficiency	HP:0002093
4141	MARS	Dyspnea	HP:0002094
4141	MARS	Anemia	HP:0001903
4141	MARS	Global developmental delay	HP:0001263
4141	MARS	Steppage gait	HP:0003376
4141	MARS	Cirrhosis	HP:0001394
4141	MARS	Variable expressivity	HP:0003828
4141	MARS	Hypothyroidism	HP:0000821
4141	MARS	Alveolar proteinosis	HP:0006517
4141	MARS	Hepatic steatosis	HP:0001397
4141	MARS	Distal sensory impairment	HP:0002936
4141	MARS	Cough	HP:0012735
4143	MAT1A	Intellectual disability	HP:0001249
4143	MAT1A	Hypermethioninemia	HP:0003235
4143	MAT1A	Hyperreflexia	HP:0001347
4143	MAT1A	Dystonia	HP:0001332
4143	MAT1A	Autosomal dominant inheritance	HP:0000006
4143	MAT1A	Autosomal recessive inheritance	HP:0000007
4143	MAT1A	Peripheral demyelination	HP:0011096
4143	MAT1A	CNS demyelination	HP:0007305
4144	MAT2A	Carotid artery dilatation	HP:0012163
4144	MAT2A	Ascending aortic dissection	HP:0004933
4144	MAT2A	Cutis marmorata	HP:0000965
4144	MAT2A	Chest pain	HP:0100749
4144	MAT2A	Coronary artery atherosclerosis	HP:0001677
4144	MAT2A	Abnormality iris morphology	HP:0000525
4144	MAT2A	Arachnodactyly	HP:0001166
4144	MAT2A	Dilatation of the cerebral artery	HP:0004944
4144	MAT2A	High, narrow palate	HP:0002705
4144	MAT2A	Mucoid extracellular matrix accumulation	HP:0200146
4144	MAT2A	Bruising susceptibility	HP:0000978
4144	MAT2A	Descending aortic dissection	HP:0012499
4144	MAT2A	Peripheral arterial stenosis	HP:0004950
4144	MAT2A	Transient ischemic attack	HP:0002326
4144	MAT2A	Retrognathia	HP:0000278
4144	MAT2A	Inguinal hernia	HP:0000023
4144	MAT2A	Subarachnoid hemorrhage	HP:0002138
4144	MAT2A	Scoliosis	HP:0002650
4144	MAT2A	Paroxysmal dyspnea	HP:0012763
4144	MAT2A	Ischemic stroke	HP:0002140
4144	MAT2A	Descending thoracic aorta aneurysm	HP:0004959
4144	MAT2A	Hypovolemia	HP:0011106
4144	MAT2A	Tall stature	HP:0000098
4144	MAT2A	Pes planus	HP:0001763
4144	MAT2A	Dural ectasia	HP:0100775
4144	MAT2A	Cardiomegaly	HP:0001640
4144	MAT2A	Left ventricular dysfunction	HP:0005162
4144	MAT2A	Patent ductus arteriosus	HP:0001643
4144	MAT2A	Bicuspid aortic valve	HP:0001647
4144	MAT2A	Hypertension	HP:0000822
4144	MAT2A	Aortic root aneurysm	HP:0002616
4144	MAT2A	Abdominal aortic aneurysm	HP:0005112
4144	MAT2A	Hemoptysis	HP:0002105
4144	MAT2A	Pneumothorax	HP:0002107
4144	MAT2A	Exertional dyspnea	HP:0002875
4144	MAT2A	Aortic regurgitation	HP:0001659
4144	MAT2A	Hypertelorism	HP:0000316
4144	MAT2A	Prenatal maternal abnormality	HP:0002686
4144	MAT2A	Abnormality of the sternum	HP:0000766
4148	MATN3	Delayed ossification of carpal bones	HP:0001216
4148	MATN3	Short femoral neck	HP:0100864
4148	MATN3	Autosomal dominant inheritance	HP:0000006
4148	MATN3	Osteoarthritis	HP:0002758
4148	MATN3	Autosomal recessive inheritance	HP:0000007
4148	MATN3	Gait disturbance	HP:0001288
4148	MATN3	Metaphyseal widening	HP:0003016
4148	MATN3	Thoracic hypoplasia	HP:0005257
4148	MATN3	Arthralgia	HP:0002829
4148	MATN3	Flat face	HP:0012368
4148	MATN3	Premature osteoarthritis	HP:0003088
4148	MATN3	Heterogeneous	HP:0001425
4148	MATN3	Metaphyseal irregularity	HP:0003025
4148	MATN3	Hypoplasia of the capital femoral epiphysis	HP:0003090
4148	MATN3	Short long bone	HP:0003026
4148	MATN3	Waddling gait	HP:0002515
4148	MATN3	Irregular epiphyses	HP:0010582
4148	MATN3	Small epiphyses	HP:0010585
4148	MATN3	Genu varum	HP:0002970
4148	MATN3	Dysplastic iliac wings	HP:0008794
4148	MATN3	Posterior rib cupping	HP:0000922
4148	MATN3	Spondyloepimetaphyseal dysplasia	HP:0002651
4148	MATN3	Enlarged joints	HP:0003037
4148	MATN3	Broad femoral neck	HP:0006429
4148	MATN3	Multiple epiphyseal dysplasia	HP:0002654
4148	MATN3	Platyspondyly	HP:0000926
4148	MATN3	Epiphyseal dysplasia	HP:0002656
4148	MATN3	Limited elbow extension	HP:0001377
4148	MATN3	Limb undergrowth	HP:0009826
4148	MATN3	Bowing of the legs	HP:0002979
4148	MATN3	Ovoid vertebral bodies	HP:0003300
4148	MATN3	Arthralgia of the hip	HP:0003365
4148	MATN3	Hypoplastic pubic bone	HP:0003173
4148	MATN3	Delayed tarsal ossification	HP:0008103
4148	MATN3	Micromelia	HP:0002983
4148	MATN3	Disproportionate short-limb short stature	HP:0008873
4148	MATN3	Genu valgum	HP:0002857
4148	MATN3	Hip dysplasia	HP:0001385
4148	MATN3	Joint stiffness	HP:0001387
4148	MATN3	Flat acetabular roof	HP:0003180
4148	MATN3	Narrow iliac wings	HP:0002868
4148	MATN3	Lumbar hyperlordosis	HP:0002938
4148	MATN3	Coxa vara	HP:0002812
4148	MATN3	Metaphyseal spurs	HP:0005054
4148	MATN3	Pectus excavatum	HP:0000767
4149	MAX	Hypercalcemia	HP:0003072
4149	MAX	Vocal cord paralysis	HP:0001605
4149	MAX	Hypertensive retinopathy	HP:0001095
4149	MAX	Elevated calcitonin	HP:0003528
4149	MAX	Elevated urinary dopamine	HP:0011979
4149	MAX	Chest pain	HP:0100749
4149	MAX	Cranial nerve compression	HP:0001293
4149	MAX	Aniridia	HP:0000526
4149	MAX	Episodic abdominal pain	HP:0002574
4149	MAX	Renal cell carcinoma	HP:0005584
4149	MAX	Elevated urinary norepinephrine	HP:0003345
4149	MAX	Extraadrenal pheochromocytoma	HP:0006737
4149	MAX	Dysphonia	HP:0001618
4149	MAX	Pallor	HP:0000980
4149	MAX	Conductive hearing impairment	HP:0000405
4149	MAX	Hematuria	HP:0000790
4149	MAX	Fatigue	HP:0012378
4149	MAX	Recurrent paroxysmal headache	HP:0002331
4149	MAX	Adrenal pheochromocytoma	HP:0006748
4149	MAX	Proteinuria	HP:0000093
4149	MAX	Weight loss	HP:0001824
4149	MAX	Glomerulosclerosis	HP:0000096
4149	MAX	Nausea	HP:0002018
4149	MAX	Congestive heart failure	HP:0001635
4149	MAX	Paroxysmal vertigo	HP:0010532
4149	MAX	Episodic paroxysmal anxiety	HP:0000740
4149	MAX	Palpitations	HP:0001962
4149	MAX	Episodic hyperhidrosis	HP:0001069
4149	MAX	Retinal capillary hemangioma	HP:0009711
4149	MAX	Paraganglioma of head and neck	HP:0002864
4149	MAX	Flushing	HP:0031284
4149	MAX	Panic attack	HP:0025269
4149	MAX	Pulsatile tinnitus	HP:0008629
4149	MAX	Positive regitine blocking test	HP:0003574
4149	MAX	Sinus tachycardia	HP:0011703
4149	MAX	Elevated urinary epinephrine	HP:0003639
4149	MAX	Tremor	HP:0001337
4149	MAX	Cerebral hemorrhage	HP:0001342
4149	MAX	Arachnoid hemangiomatosis	HP:0012222
4157	MC1R	Freckling	HP:0001480
4157	MC1R	Subcutaneous nodule	HP:0001482
4157	MC1R	Abnormality of the optic nerve	HP:0000587
4157	MC1R	Neoplasm of the pancreas	HP:0002894
4157	MC1R	Squamous cell carcinoma of the skin	HP:0006739
4157	MC1R	Abnormality of extrapyramidal motor function	HP:0002071
4157	MC1R	Cutaneous melanoma	HP:0012056
4157	MC1R	Abnormality of the lymphatic system	HP:0100763
4157	MC1R	Hypopigmented skin patches	HP:0001053
4157	MC1R	Pruritus	HP:0000989
4157	MC1R	Congenital giant melanocytic nevus	HP:0005600
4157	MC1R	Neoplasm of the stomach	HP:0006753
4157	MC1R	Seizures	HP:0001250
4157	MC1R	Photophobia	HP:0000613
4157	MC1R	Strabismus	HP:0000486
4157	MC1R	Retinopathy	HP:0000488
4157	MC1R	Rhabdomyosarcoma	HP:0002859
4157	MC1R	Neoplasm of the breast	HP:0100013
4157	MC1R	Melanoma	HP:0002861
4157	MC1R	Hydrocephalus	HP:0000238
4157	MC1R	Basal cell carcinoma	HP:0002671
4157	MC1R	Iris hypopigmentation	HP:0007730
4157	MC1R	Nevus	HP:0003764
4157	MC1R	Generalized hirsutism	HP:0002230
4157	MC1R	Visual impairment	HP:0000505
4157	MC1R	Abnormal hair morphology	HP:0001595
4157	MC1R	Dry skin	HP:0000958
4157	MC1R	Albinism	HP:0001022
4157	MC1R	Nystagmus	HP:0000639
340024	SLC6A19	Prolinuria	HP:0003137
340024	SLC6A19	Abnormal blistering of the skin	HP:0008066
340024	SLC6A19	Hyperreflexia	HP:0001347
340024	SLC6A19	Psychosis	HP:0000709
340024	SLC6A19	Autosomal dominant inheritance	HP:0000006
340024	SLC6A19	Autosomal recessive inheritance	HP:0000007
340024	SLC6A19	Hydroxyprolinuria	HP:0003080
340024	SLC6A19	Emotional lability	HP:0000712
340024	SLC6A19	Glossitis	HP:0000206
340024	SLC6A19	Encephalitis	HP:0002383
340024	SLC6A19	Episodic ataxia	HP:0002131
340024	SLC6A19	Migraine	HP:0002076
340024	SLC6A19	Skin rash	HP:0000988
340024	SLC6A19	Hypopigmented skin patches	HP:0001053
340024	SLC6A19	Abnormality of the eye	HP:0000478
340024	SLC6A19	Calcium oxalate nephrolithiasis	HP:0008672
340024	SLC6A19	Cutaneous photosensitivity	HP:0000992
340024	SLC6A19	Intellectual disability	HP:0001249
340024	SLC6A19	Neutral hyperaminoaciduria	HP:0008353
340024	SLC6A19	Hallucinations	HP:0000738
340024	SLC6A19	Short stature	HP:0004322
340024	SLC6A19	Seizures	HP:0001250
340024	SLC6A19	Ataxia	HP:0001251
340024	SLC6A19	Anxiety	HP:0000739
340024	SLC6A19	Hyperglycinuria	HP:0003108
340024	SLC6A19	Muscular hypotonia	HP:0001252
340024	SLC6A19	Photophobia	HP:0000613
340024	SLC6A19	Gingivitis	HP:0000230
340024	SLC6A19	Strabismus	HP:0000486
340024	SLC6A19	Irregular hyperpigmentation	HP:0007400
340024	SLC6A19	Malabsorption	HP:0002024
340024	SLC6A19	Global developmental delay	HP:0001263
340024	SLC6A19	EEG abnormality	HP:0002353
340024	SLC6A19	Abnormal urinary color	HP:0012086
340024	SLC6A19	Hypertonia	HP:0001276
340024	SLC6A19	Nystagmus	HP:0000639
4158	MC2R	Accelerated skeletal maturation	HP:0005616
4158	MC2R	Seizures	HP:0001250
4158	MC2R	Increased circulating ACTH level	HP:0003154
4158	MC2R	Tall stature	HP:0000098
4158	MC2R	Decreased circulating cortisol level	HP:0008163
4158	MC2R	Failure to thrive	HP:0001508
4158	MC2R	Recurrent hypoglycemia	HP:0001988
4158	MC2R	Autosomal recessive inheritance	HP:0000007
4158	MC2R	Hyperpigmentation of the skin	HP:0000953
4158	MC2R	Coma	HP:0001259
4158	MC2R	Recurrent infections	HP:0002719
4160	MC4R	Increased adipose tissue	HP:0009126
4160	MC4R	Autosomal dominant inheritance	HP:0000006
4160	MC4R	Polygenic inheritance	HP:0010982
4160	MC4R	Autosomal recessive inheritance	HP:0000007
4160	MC4R	Obesity	HP:0001513
4160	MC4R	Hyperinsulinemia	HP:0000842
4160	MC4R	Hypertriglyceridemia	HP:0002155
4160	MC4R	Increased waist to hip ratio	HP:0031819
4160	MC4R	Childhood-onset truncal obesity	HP:0008915
4160	MC4R	Decreased resting energy expenditure	HP:0012340
4160	MC4R	Hypertension	HP:0000822
4160	MC4R	Type II diabetes mellitus	HP:0005978
4160	MC4R	Acanthosis nigricans	HP:0000956
4160	MC4R	Polyphagia	HP:0002591
4166	CHST6	Punctate opacification of the cornea	HP:0007856
4166	CHST6	Abnormality of metabolism/homeostasis	HP:0001939
4166	CHST6	Photophobia	HP:0000613
4166	CHST6	Juvenile onset	HP:0003621
4166	CHST6	Autosomal recessive inheritance	HP:0000007
4166	CHST6	Macular dystrophy	HP:0007754
4166	CHST6	Corneal dystrophy	HP:0001131
4166	CHST6	Recurrent corneal erosions	HP:0000495
118856	MMP21	Situs inversus totalis	HP:0001696
118856	MMP21	Heterotaxy	HP:0030853
118856	MMP21	Transposition of the great arteries	HP:0001669
118856	MMP21	Abnormal tricuspid valve morphology	HP:0001702
118856	MMP21	Intestinal malrotation	HP:0002566
118856	MMP21	Pulmonary artery atresia	HP:0004935
118856	MMP21	Atrioventricular canal defect	HP:0006695
118856	MMP21	Autosomal recessive inheritance	HP:0000007
118856	MMP21	Mitral atresia	HP:0011560
118856	MMP21	Total anomalous pulmonary venous return	HP:0005160
118856	MMP21	Pulmonary artery hypoplasia	HP:0004971
118856	MMP21	Common atrium	HP:0011565
118856	MMP21	Abnormal aortic valve morphology	HP:0001646
118856	MMP21	Polysplenia	HP:0001748
118856	MMP21	Right aortic arch	HP:0012020
118856	MMP21	Interrupted inferior vena cava with azygous continuation	HP:0011671
118856	MMP21	Hypoplasia of right ventricle	HP:0004762
118856	MMP21	Interrupted aortic arch	HP:0011611
118856	MMP21	Atrial septal defect	HP:0001631
4171	MCM2	Variable expressivity	HP:0003828
4171	MCM2	Autosomal dominant inheritance	HP:0000006
4171	MCM2	Progressive sensorineural hearing impairment	HP:0000408
4171	MCM2	Slow progression	HP:0003677
4173	MCM4	Hepatomegaly	HP:0002240
4173	MCM4	Postnatal growth retardation	HP:0008897
4173	MCM4	Autosomal recessive inheritance	HP:0000007
4173	MCM4	Intrauterine growth retardation	HP:0001511
4173	MCM4	Recurrent viral infections	HP:0004429
4173	MCM4	Adrenal insufficiency	HP:0000846
4173	MCM4	Global developmental delay	HP:0001263
4173	MCM4	Splenomegaly	HP:0001744
4173	MCM4	Lymphoproliferative disorder	HP:0005523
4173	MCM4	Lymphadenopathy	HP:0002716
4173	MCM4	Microcephaly	HP:0000252
4173	MCM4	Recurrent respiratory infections	HP:0002205
4173	MCM4	Respiratory failure	HP:0002878
4174	MCM5	Narrow mouth	HP:0000160
4174	MCM5	Low-set ears	HP:0000369
4174	MCM5	Microtia	HP:0008551
4174	MCM5	Thick vermilion border	HP:0012471
4174	MCM5	Renal hypoplasia	HP:0000089
4174	MCM5	Ptosis	HP:0000508
4175	MCM6	Abnormality of metabolism/homeostasis	HP:0001939
4175	MCM6	Lactose intolerance	HP:0004789
4175	MCM6	Autosomal dominant inheritance	HP:0000006
4175	MCM6	Autosomal recessive inheritance	HP:0000007
4175	MCM6	Decreased small intestinal mucosa lactase activity	HP:0025130
4175	MCM6	Abdominal pain	HP:0002027
4175	MCM6	Diarrhea	HP:0002014
389207	GRXCR1	Autosomal recessive inheritance	HP:0000007
389207	GRXCR1	Progressive sensorineural hearing impairment	HP:0000408
28755	TRAC	Autoimmunity	HP:0002960
28755	TRAC	Failure to thrive	HP:0001508
28755	TRAC	Autosomal recessive inheritance	HP:0000007
28755	TRAC	Infantile onset	HP:0003593
28755	TRAC	Lymphadenopathy	HP:0002716
28755	TRAC	Hypereosinophilia	HP:0032061
28755	TRAC	Recurrent infections	HP:0002719
53335	BCL11A	Intellectual disability	HP:0001249
53335	BCL11A	Joint hypermobility	HP:0001382
53335	BCL11A	Autosomal dominant inheritance	HP:0000006
53335	BCL11A	Strabismus	HP:0000486
53335	BCL11A	Everted lower lip vermilion	HP:0000232
53335	BCL11A	Overfolded helix	HP:0000396
53335	BCL11A	Downslanted palpebral fissures	HP:0000494
53335	BCL11A	Global developmental delay	HP:0001263
53335	BCL11A	Blue sclerae	HP:0000592
53335	BCL11A	Low-set ears	HP:0000369
53335	BCL11A	Retrognathia	HP:0000278
53335	BCL11A	Midface retrusion	HP:0011800
53335	BCL11A	Cerebellar atrophy	HP:0001272
53335	BCL11A	Congenital onset	HP:0003577
53335	BCL11A	Cupped ear	HP:0000378
53335	BCL11A	Thin upper lip vermilion	HP:0000219
53335	BCL11A	Microcephaly	HP:0000252
53335	BCL11A	Epicanthus	HP:0000286
340061	TMEM173	Interstitial pulmonary abnormality	HP:0006530
340061	TMEM173	Cutis marmorata	HP:0000965
340061	TMEM173	Autosomal dominant inheritance	HP:0000006
340061	TMEM173	Myositis	HP:0100614
340061	TMEM173	Arthralgia	HP:0002829
340061	TMEM173	Increased antibody level in blood	HP:0010702
340061	TMEM173	Malar rash	HP:0025300
340061	TMEM173	Nail dystrophy	HP:0008404
340061	TMEM173	Fever	HP:0001945
340061	TMEM173	Leukopenia	HP:0001882
340061	TMEM173	Recurrent respiratory infections	HP:0002205
340061	TMEM173	Erythema	HP:0010783
340061	TMEM173	Raynaud phenomenon	HP:0030880
340061	TMEM173	Failure to thrive	HP:0001508
340061	TMEM173	Pustule	HP:0200039
340061	TMEM173	Thrombocytosis	HP:0001894
340061	TMEM173	Growth delay	HP:0001510
340061	TMEM173	Neonatal onset	HP:0003623
340061	TMEM173	Follicular hyperplasia	HP:0002729
340061	TMEM173	Joint stiffness	HP:0001387
340061	TMEM173	Elevated erythrocyte sedimentation rate	HP:0003565
340061	TMEM173	Anemia	HP:0001903
340061	TMEM173	Telangiectasia	HP:0001009
340061	TMEM173	Variable expressivity	HP:0003828
340061	TMEM173	Myalgia	HP:0003326
4191	MDH2	Hypercalcemia	HP:0003072
4191	MDH2	Skeletal muscle atrophy	HP:0003202
4191	MDH2	Autosomal recessive inheritance	HP:0000007
4191	MDH2	Chest pain	HP:0100749
4191	MDH2	Cranial nerve compression	HP:0001293
4191	MDH2	Aniridia	HP:0000526
4191	MDH2	Episodic abdominal pain	HP:0002574
4191	MDH2	Elevated urinary norepinephrine	HP:0003345
4191	MDH2	Conductive hearing impairment	HP:0000405
4191	MDH2	Hematuria	HP:0000790
4191	MDH2	Recurrent paroxysmal headache	HP:0002331
4191	MDH2	Babinski sign	HP:0003487
4191	MDH2	Hypoplasia of the corpus callosum	HP:0002079
4191	MDH2	Delayed myelination	HP:0012448
4191	MDH2	Weight loss	HP:0001824
4191	MDH2	Paroxysmal vertigo	HP:0010532
4191	MDH2	Palpitations	HP:0001962
4191	MDH2	Episodic hyperhidrosis	HP:0001069
4191	MDH2	Paraganglioma of head and neck	HP:0002864
4191	MDH2	Dystonia	HP:0001332
4191	MDH2	Flushing	HP:0031284
4191	MDH2	Panic attack	HP:0025269
4191	MDH2	Pulsatile tinnitus	HP:0008629
4191	MDH2	Sinus tachycardia	HP:0011703
4191	MDH2	Elevated urinary epinephrine	HP:0003639
4191	MDH2	Tremor	HP:0001337
4191	MDH2	Increased CSF lactate	HP:0002490
4191	MDH2	Cerebral hemorrhage	HP:0001342
4191	MDH2	Arachnoid hemangiomatosis	HP:0012222
4191	MDH2	Feeding difficulties	HP:0011968
4191	MDH2	Absent speech	HP:0001344
4191	MDH2	Epileptic encephalopathy	HP:0200134
4191	MDH2	Vocal cord paralysis	HP:0001605
4191	MDH2	Hypertensive retinopathy	HP:0001095
4191	MDH2	Elevated calcitonin	HP:0003528
4191	MDH2	Elevated urinary dopamine	HP:0011979
4191	MDH2	Renal cell carcinoma	HP:0005584
4191	MDH2	Extraadrenal pheochromocytoma	HP:0006737
4191	MDH2	Dysphonia	HP:0001618
4191	MDH2	Pallor	HP:0000980
4191	MDH2	Fatigue	HP:0012378
4191	MDH2	Adrenal pheochromocytoma	HP:0006748
4191	MDH2	Proteinuria	HP:0000093
4191	MDH2	Glomerulosclerosis	HP:0000096
4191	MDH2	Seizures	HP:0001250
4191	MDH2	Nausea	HP:0002018
4191	MDH2	Constipation	HP:0002019
4191	MDH2	Congestive heart failure	HP:0001635
4191	MDH2	Failure to thrive	HP:0001508
4191	MDH2	Episodic paroxysmal anxiety	HP:0000740
4191	MDH2	Strabismus	HP:0000486
4191	MDH2	Increased serum lactate	HP:0002151
4191	MDH2	Inability to walk	HP:0002540
4191	MDH2	Global developmental delay	HP:0001263
4191	MDH2	Retinal capillary hemangioma	HP:0009711
4191	MDH2	Hyporeflexia	HP:0001265
4191	MDH2	Poor head control	HP:0002421
4191	MDH2	Positive regitine blocking test	HP:0003574
4191	MDH2	Cerebellar atrophy	HP:0001272
4191	MDH2	Rod-cone dystrophy	HP:0000510
4191	MDH2	Supernumerary nipple	HP:0002558
4193	MDM2	Neoplasm of the adrenal cortex	HP:0100641
4193	MDM2	Neoplasm of the skin	HP:0008069
4193	MDM2	Lymphoma	HP:0002665
4193	MDM2	Subcutaneous nodule	HP:0001482
4193	MDM2	Osteosarcoma	HP:0002669
4193	MDM2	Melanoma	HP:0002861
4193	MDM2	Neoplasm of the pancreas	HP:0002894
4193	MDM2	Progressive encephalopathy	HP:0002448
4193	MDM2	Neoplasm of the colon	HP:0100273
4193	MDM2	Abnormal renal physiology	HP:0012211
4193	MDM2	Gastrointestinal dysmotility	HP:0002579
4193	MDM2	Neoplasm of the nervous system	HP:0004375
4193	MDM2	Breast carcinoma	HP:0003002
151648	SGO1	Failure to thrive	HP:0001508
151648	SGO1	Mitral regurgitation	HP:0001653
151648	SGO1	Atrial fibrillation	HP:0005110
151648	SGO1	Autosomal recessive inheritance	HP:0000007
151648	SGO1	Sick sinus syndrome	HP:0011704
151648	SGO1	Pulmonic stenosis	HP:0001642
151648	SGO1	Atrial flutter	HP:0004749
151648	SGO1	Bradycardia	HP:0001662
151648	SGO1	Bicuspid aortic valve	HP:0001647
4204	MECP2	Macrocephaly	HP:0000256
4204	MECP2	Drooling	HP:0002307
4204	MECP2	Arnold-Chiari malformation	HP:0002308
4204	MECP2	Gait disturbance	HP:0001288
4204	MECP2	Abnormality of the antihelix	HP:0009738
4204	MECP2	Rigidity	HP:0002063
4204	MECP2	Abnormal T-wave	HP:0005135
4204	MECP2	Intermittent hyperventilation	HP:0004879
4204	MECP2	Spastic gait	HP:0002064
4204	MECP2	Malar flattening	HP:0000272
4204	MECP2	Encephalopathy	HP:0001298
4204	MECP2	Gait ataxia	HP:0002066
4204	MECP2	Nephrolithiasis	HP:0000787
4204	MECP2	Parkinsonism	HP:0001300
4204	MECP2	Hemiplegia/hemiparesis	HP:0004374
4204	MECP2	Midface retrusion	HP:0011800
4204	MECP2	Chorea	HP:0002072
4204	MECP2	Gait apraxia	HP:0010521
4204	MECP2	Cryptorchidism	HP:0000028
4204	MECP2	Motor deterioration	HP:0002333
4204	MECP2	Epicanthus	HP:0000286
4204	MECP2	Truncal ataxia	HP:0002078
4204	MECP2	Acrocyanosis	HP:0001063
4204	MECP2	Facial hypotonia	HP:0000297
4204	MECP2	Muscle weakness	HP:0001324
4204	MECP2	Respiratory insufficiency	HP:0002093
4204	MECP2	Hypospadias	HP:0000047
4204	MECP2	EEG abnormality	HP:0002353
4204	MECP2	Poor eye contact	HP:0000817
4204	MECP2	Tented upper lip vermilion	HP:0010804
4204	MECP2	Dystonia	HP:0001332
4204	MECP2	Macroorchidism	HP:0000053
4204	MECP2	Dysphasia	HP:0002357
4204	MECP2	Myoclonus	HP:0001336
4204	MECP2	Apnea	HP:0002104
4204	MECP2	Tremor	HP:0001337
4204	MECP2	Shuffling gait	HP:0002362
4204	MECP2	Prolonged QTc interval	HP:0005184
4204	MECP2	Absent speech	HP:0001344
4204	MECP2	Hyperreflexia	HP:0001347
4204	MECP2	Blepharophimosis	HP:0000581
4204	MECP2	Ventriculomegaly	HP:0002119
4204	MECP2	Cerebral cortical atrophy	HP:0002120
4204	MECP2	Developmental regression	HP:0002376
4204	MECP2	Polymicrogyria	HP:0002126
4204	MECP2	Severe global developmental delay	HP:0011344
4204	MECP2	Long philtrum	HP:0000343
4204	MECP2	Scoliosis	HP:0002650
4204	MECP2	Micrognathia	HP:0000347
4204	MECP2	Progressive	HP:0003676
4204	MECP2	Slow progression	HP:0003677
4204	MECP2	Abnormality of chromosome segregation	HP:0002916
4204	MECP2	Joint stiffness	HP:0001387
4204	MECP2	Postnatal microcephaly	HP:0005484
4204	MECP2	Hearing impairment	HP:0000365
4204	MECP2	Self-injurious behavior	HP:0100716
4204	MECP2	Intellectual disability, severe	HP:0010864
4204	MECP2	Clinodactyly of the 5th finger	HP:0004209
4204	MECP2	Low-set ears	HP:0000369
4204	MECP2	Neurological speech impairment	HP:0002167
4204	MECP2	Decreased muscle mass	HP:0003199
4204	MECP2	Skeletal muscle atrophy	HP:0003202
4204	MECP2	Apraxia	HP:0002186
4204	MECP2	Camptodactyly of finger	HP:0100490
4204	MECP2	Abnormality of the metacarpal bones	HP:0001163
4204	MECP2	X-linked recessive inheritance	HP:0001419
4204	MECP2	Intellectual disability, profound	HP:0002187
4204	MECP2	Tetraplegia	HP:0002445
4204	MECP2	X-linked dominant inheritance	HP:0001423
4204	MECP2	Progressive spasticity	HP:0002191
4204	MECP2	Macrotia	HP:0000400
4204	MECP2	Abnormality of metabolism/homeostasis	HP:0001939
4204	MECP2	Wide mouth	HP:0000154
4204	MECP2	Arrhythmia	HP:0011675
4204	MECP2	Recurrent respiratory infections	HP:0002205
4204	MECP2	Babinski sign	HP:0003487
4204	MECP2	Narrow mouth	HP:0000160
4204	MECP2	Depressed nasal bridge	HP:0005280
4204	MECP2	Abnormality of the dentition	HP:0000164
4204	MECP2	Fine hair	HP:0002213
4204	MECP2	Abnormality of the antitragus	HP:0009896
4204	MECP2	Feeding difficulties in infancy	HP:0008872
4204	MECP2	Underdeveloped nasal alae	HP:0000430
4204	MECP2	Bruxism	HP:0003763
4204	MECP2	Thick vermilion border	HP:0012471
4204	MECP2	Abnormality of movement	HP:0100022
4204	MECP2	Wide nose	HP:0000445
4204	MECP2	Delayed skeletal maturation	HP:0002750
4204	MECP2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4204	MECP2	Hepatomegaly	HP:0002240
4204	MECP2	Psychosis	HP:0000709
4204	MECP2	Excessive salivation	HP:0003781
4204	MECP2	Central hypoventilation	HP:0007110
4204	MECP2	Thin fingernail	HP:0012742
4204	MECP2	Hernia of the abdominal wall	HP:0004299
4204	MECP2	Depressivity	HP:0000716
4204	MECP2	Autism	HP:0000717
4204	MECP2	Abnormal fingernail morphology	HP:0001231
4204	MECP2	Short neck	HP:0000470
4204	MECP2	Dementia	HP:0000726
4204	MECP2	Autistic behavior	HP:0000729
4204	MECP2	High palate	HP:0000218
4204	MECP2	Stereotypy	HP:0000733
4204	MECP2	Dysphagia	HP:0002015
4204	MECP2	Intellectual disability	HP:0001249
4204	MECP2	Pes cavus	HP:0001761
4204	MECP2	Seizures	HP:0001250
4204	MECP2	Short stature	HP:0004322
4204	MECP2	Ataxia	HP:0001251
4204	MECP2	Constipation	HP:0002019
4204	MECP2	Anxiety	HP:0000739
4204	MECP2	Gastroesophageal reflux	HP:0002020
4204	MECP2	Failure to thrive	HP:0001508
4204	MECP2	Cachexia	HP:0004326
4204	MECP2	Intellectual disability, progressive	HP:0006887
4204	MECP2	Intellectual disability, mild	HP:0001256
4204	MECP2	Everted lower lip vermilion	HP:0000232
4204	MECP2	Muscular hypotonia of the trunk	HP:0008936
4204	MECP2	Spasticity	HP:0001257
4204	MECP2	Short foot	HP:0001773
4204	MECP2	Delayed speech and language development	HP:0000750
4204	MECP2	Global developmental delay	HP:0001263
4204	MECP2	Hostility	HP:0031473
4204	MECP2	Choreoathetosis	HP:0001266
4204	MECP2	Infantile muscular hypotonia	HP:0008947
4204	MECP2	Arthrogryposis multiplex congenita	HP:0002804
4204	MECP2	Kyphosis	HP:0002808
4204	MECP2	Brachycephaly	HP:0000248
4204	MECP2	Congenital onset	HP:0003577
4204	MECP2	Narrow foot	HP:0001786
4204	MECP2	Microcephaly	HP:0000252
4204	MECP2	Ptosis	HP:0000508
4204	MECP2	Progressive microcephaly	HP:0000253
4204	MECP2	Pectus excavatum	HP:0000767
340075	ARSI	Colpocephaly	HP:0030048
340075	ARSI	Intellectual disability	HP:0001249
340075	ARSI	Talipes equinovarus	HP:0001762
340075	ARSI	Areflexia	HP:0001284
340075	ARSI	Cerebellar hypoplasia	HP:0001321
340075	ARSI	Lower limb amyotrophy	HP:0007210
340075	ARSI	Progressive spastic paraplegia	HP:0007020
340075	ARSI	Limb hypertonia	HP:0002509
340075	ARSI	Spastic gait	HP:0002064
340075	ARSI	Difficulty walking	HP:0002355
340075	ARSI	Chronic sensorineural polyneuropathy	HP:0001301
340075	ARSI	Impaired vibration sensation in the lower limbs	HP:0002166
340075	ARSI	Hypoplasia of the corpus callosum	HP:0002079
4208	MEF2C	Feeding difficulties	HP:0011968
4208	MEF2C	Frontal cortical atrophy	HP:0006913
4208	MEF2C	Short philtrum	HP:0000322
4208	MEF2C	Open mouth	HP:0000194
4208	MEF2C	Epileptic encephalopathy	HP:0200134
4208	MEF2C	Upslanted palpebral fissure	HP:0000582
4208	MEF2C	Autosomal dominant inheritance	HP:0000006
4208	MEF2C	Ventriculomegaly	HP:0002119
4208	MEF2C	Generalized hypotonia	HP:0001290
4208	MEF2C	Short chin	HP:0000331
4208	MEF2C	Anteverted nares	HP:0000463
4208	MEF2C	Broad forehead	HP:0000337
4208	MEF2C	Abnormality of the periventricular white matter	HP:0002518
4208	MEF2C	Autistic behavior	HP:0000729
4208	MEF2C	Downturned corners of mouth	HP:0002714
4208	MEF2C	High forehead	HP:0000348
4208	MEF2C	Stereotypy	HP:0000733
4208	MEF2C	Agenesis of cerebellar vermis	HP:0002335
4208	MEF2C	Hypoplasia of the corpus callosum	HP:0002079
4208	MEF2C	Depressed nasal bridge	HP:0005280
4208	MEF2C	Optic nerve hypoplasia	HP:0000609
4208	MEF2C	Sporadic	HP:0003745
4208	MEF2C	Seizures	HP:0001250
4208	MEF2C	Muscular hypotonia	HP:0001252
4208	MEF2C	Strabismus	HP:0000486
4208	MEF2C	Deeply set eye	HP:0000490
4208	MEF2C	Toe syndactyly	HP:0001770
4208	MEF2C	Inability to walk	HP:0002540
4208	MEF2C	Delayed speech and language development	HP:0000750
4208	MEF2C	Intellectual disability, severe	HP:0010864
4208	MEF2C	Poor eye contact	HP:0000817
4208	MEF2C	Low-set ears	HP:0000369
4208	MEF2C	Motor delay	HP:0001270
4208	MEF2C	Short nose	HP:0003196
4208	MEF2C	Hypertelorism	HP:0000316
4208	MEF2C	Thick eyebrow	HP:0000574
4210	MEFV	Abnormal blistering of the skin	HP:0008066
4210	MEFV	Polyarticular arthritis	HP:0005764
4210	MEFV	Ascites	HP:0001541
4210	MEFV	Avascular necrosis	HP:0010885
4210	MEFV	Autosomal dominant inheritance	HP:0000006
4210	MEFV	Cataract	HP:0000518
4210	MEFV	Autosomal recessive inheritance	HP:0000007
4210	MEFV	Meningitis	HP:0001287
4210	MEFV	Myositis	HP:0100614
4210	MEFV	Gait disturbance	HP:0001288
4210	MEFV	Confusion	HP:0001289
4210	MEFV	Chest pain	HP:0100749
4210	MEFV	Arthralgia	HP:0002829
4210	MEFV	Vertigo	HP:0002321
4210	MEFV	Gangrene	HP:0100758
4210	MEFV	Fever	HP:0001945
4210	MEFV	Peritonitis	HP:0002586
4210	MEFV	Acute hepatic failure	HP:0006554
4210	MEFV	Pleural effusion	HP:0002202
4210	MEFV	Arrhythmia	HP:0011675
4210	MEFV	Oral ulcer	HP:0000155
4210	MEFV	Lymphadenopathy	HP:0002716
4210	MEFV	Pulmonary embolism	HP:0002204
4210	MEFV	Migraine	HP:0002076
4210	MEFV	Erythema	HP:0010783
4210	MEFV	Erysipelas	HP:0001055
4210	MEFV	Weight loss	HP:0001824
4210	MEFV	Recurrent fever	HP:0001954
4210	MEFV	Pericarditis	HP:0001701
4210	MEFV	Juvenile onset	HP:0003621
4210	MEFV	Acne	HP:0001061
4210	MEFV	Cranial nerve paralysis	HP:0006824
4210	MEFV	Retrobulbar optic neuritis	HP:0100654
4210	MEFV	Memory impairment	HP:0002354
4210	MEFV	Pleuritis	HP:0002102
4210	MEFV	Leukocytosis	HP:0001974
4210	MEFV	Oral leukoplakia	HP:0002745
4210	MEFV	Hemoptysis	HP:0002105
4210	MEFV	Orchitis	HP:0100796
4210	MEFV	Gastrointestinal hemorrhage	HP:0002239
4210	MEFV	Hepatomegaly	HP:0002240
4210	MEFV	Pulmonary infiltrates	HP:0002113
4210	MEFV	Hyperreflexia	HP:0001347
4210	MEFV	Arterial thrombosis	HP:0004420
4210	MEFV	Pancreatitis	HP:0001733
4210	MEFV	Osteoarthritis	HP:0002758
4210	MEFV	Venous thrombosis	HP:0004936
4210	MEFV	Developmental regression	HP:0002376
4210	MEFV	Vasculitis	HP:0002633
4210	MEFV	Paresthesia	HP:0003401
4210	MEFV	Keratoconjunctivitis sicca	HP:0001097
4210	MEFV	Subcutaneous nodule	HP:0001482
4210	MEFV	Cerebral ischemia	HP:0002637
4210	MEFV	Encephalitis	HP:0002383
4210	MEFV	Splenomegaly	HP:0001744
4210	MEFV	Renal insufficiency	HP:0000083
4210	MEFV	Increased intracranial pressure	HP:0002516
4210	MEFV	Glomerulopathy	HP:0100820
4210	MEFV	Abnormal pyramidal sign	HP:0007256
4210	MEFV	Arthritis	HP:0001369
4210	MEFV	Fatigue	HP:0012378
4210	MEFV	Skin rash	HP:0000988
4210	MEFV	Proteinuria	HP:0000093
4210	MEFV	Diarrhea	HP:0002014
4210	MEFV	Intestinal obstruction	HP:0005214
4210	MEFV	Nausea and vomiting	HP:0002017
4210	MEFV	Irritability	HP:0000737
4210	MEFV	Papule	HP:0200034
4210	MEFV	Seizures	HP:0001250
4210	MEFV	Constipation	HP:0002019
4210	MEFV	Recurrent aphthous stomatitis	HP:0011107
4210	MEFV	Ataxia	HP:0001251
4210	MEFV	Nephrotic syndrome	HP:0000100
4210	MEFV	Abnormal myocardium morphology	HP:0001637
4210	MEFV	Photophobia	HP:0000613
4210	MEFV	Immunologic hypersensitivity	HP:0100326
4210	MEFV	Malabsorption	HP:0002024
4210	MEFV	Retinopathy	HP:0000488
4210	MEFV	Endocarditis	HP:0100584
4210	MEFV	Blindness	HP:0000618
4210	MEFV	Abdominal pain	HP:0002027
4210	MEFV	Elevated erythrocyte sedimentation rate	HP:0003565
4210	MEFV	Nephropathy	HP:0000112
4210	MEFV	Pedal edema	HP:0010741
4210	MEFV	Mitral regurgitation	HP:0001653
4210	MEFV	Hemiparesis	HP:0001269
4210	MEFV	Anorexia	HP:0002039
4210	MEFV	Nephrocalcinosis	HP:0000121
4210	MEFV	Myocardial infarction	HP:0001658
4210	MEFV	Aortic regurgitation	HP:0001659
4210	MEFV	Gastrointestinal infarctions	HP:0005244
4210	MEFV	Renal amyloidosis	HP:0001917
4210	MEFV	Myalgia	HP:0003326
4212	MEIS2	Short 2nd finger	HP:0009536
4212	MEIS2	Laryngomalacia	HP:0001601
4212	MEIS2	Short philtrum	HP:0000322
4212	MEIS2	Biparietal narrowing	HP:0004422
4212	MEIS2	Autosomal dominant inheritance	HP:0000006
4212	MEIS2	Upslanted palpebral fissure	HP:0000582
4212	MEIS2	Broad hallux	HP:0010055
4212	MEIS2	Psychomotor retardation	HP:0025356
4212	MEIS2	Cleft upper lip	HP:0000204
4212	MEIS2	Autism	HP:0000717
4212	MEIS2	Coarctation of aorta	HP:0001680
4212	MEIS2	Large forehead	HP:0002003
4212	MEIS2	2-3 toe syndactyly	HP:0004691
4212	MEIS2	Sparse eyebrow	HP:0045075
4212	MEIS2	Long face	HP:0000276
4212	MEIS2	Narrow forehead	HP:0000341
4212	MEIS2	Short 5th finger	HP:0009237
4212	MEIS2	Long philtrum	HP:0000343
4212	MEIS2	Inguinal hernia	HP:0000023
4212	MEIS2	Autistic behavior	HP:0000729
4212	MEIS2	Scoliosis	HP:0002650
4212	MEIS2	Ventricular septal defect	HP:0001629
4212	MEIS2	Laterally extended eyebrow	HP:0011230
4212	MEIS2	Atrial septal defect	HP:0001631
4212	MEIS2	Intellectual disability	HP:0001249
4212	MEIS2	Immunodeficiency	HP:0002721
4212	MEIS2	Short stature	HP:0004322
4212	MEIS2	Seizures	HP:0001250
4212	MEIS2	High anterior hairline	HP:0009890
4212	MEIS2	Abnormality of the dentition	HP:0000164
4212	MEIS2	Gastroesophageal reflux	HP:0002020
4212	MEIS2	Acne	HP:0001061
4212	MEIS2	Broad thumb	HP:0011304
4212	MEIS2	Deeply set eye	HP:0000490
4212	MEIS2	Prominent nasal bridge	HP:0000426
4212	MEIS2	Delayed speech and language development	HP:0000750
4212	MEIS2	Cleft palate	HP:0000175
4212	MEIS2	Global developmental delay	HP:0001263
4212	MEIS2	Low-set ears	HP:0000369
4212	MEIS2	Pointed chin	HP:0000307
4212	MEIS2	Tented upper lip vermilion	HP:0010804
4212	MEIS2	Cutaneous syndactyly	HP:0012725
4212	MEIS2	Kyphosis	HP:0002808
4212	MEIS2	Highly arched eyebrow	HP:0002553
4212	MEIS2	Convex nasal ridge	HP:0000444
4212	MEIS2	Microcephaly	HP:0000252
4212	MEIS2	Sandal gap	HP:0001852
4212	MEIS2	Smooth philtrum	HP:0000319
4214	MAP3K1	Elevated circulating luteinizing hormone level	HP:0011969
4214	MAP3K1	Primary gonadal insufficiency	HP:0008193
4214	MAP3K1	Gynecomastia	HP:0000771
4214	MAP3K1	Gonadal dysgenesis	HP:0000133
4214	MAP3K1	Autosomal dominant inheritance	HP:0000006
4214	MAP3K1	Vanishing testis	HP:0012870
4214	MAP3K1	Testicular dysgenesis	HP:0008715
4214	MAP3K1	Dysgerminoma	HP:0100621
4214	MAP3K1	Adrenal insufficiency	HP:0000846
4214	MAP3K1	Primary amenorrhea	HP:0000786
4214	MAP3K1	Polycystic ovaries	HP:0000147
4214	MAP3K1	Abnormal sex determination	HP:0012244
4214	MAP3K1	Sex reversal	HP:0012245
4214	MAP3K1	Ovarian gonadoblastoma	HP:0000149
4214	MAP3K1	Gonadoblastoma	HP:0000150
4214	MAP3K1	Hypoplasia of the vagina	HP:0008726
4214	MAP3K1	Decreased serum estradiol	HP:0008214
4214	MAP3K1	Abnormality of cardiovascular system morphology	HP:0030680
4214	MAP3K1	Clitoral hypertrophy	HP:0008665
4214	MAP3K1	Female external genitalia in individual with 46,XY karyotype	HP:0008730
4214	MAP3K1	Azoospermia	HP:0000027
4214	MAP3K1	Cryptorchidism	HP:0000028
4214	MAP3K1	Decreased testicular size	HP:0008734
4214	MAP3K1	Testicular gonadoblastoma	HP:0000030
4214	MAP3K1	Streak ovary	HP:0010464
4214	MAP3K1	Decreased fertility in females	HP:0000868
4214	MAP3K1	Nephrotic syndrome	HP:0000100
4214	MAP3K1	Male pseudohermaphroditism	HP:0000037
4214	MAP3K1	Sparse axillary hair	HP:0002215
4214	MAP3K1	Elevated circulating follicle stimulating hormone level	HP:0008232
4214	MAP3K1	Chordee	HP:0000041
4214	MAP3K1	Urogenital sinus anomaly	HP:0100779
4214	MAP3K1	Nephroblastoma	HP:0002667
4214	MAP3K1	Osteoporosis	HP:0000939
4214	MAP3K1	Decreased serum testosterone level	HP:0040171
4214	MAP3K1	Hypogonadotrophic hypogonadism	HP:0000044
4214	MAP3K1	Abnormality of the scrotum	HP:0000045
4214	MAP3K1	Hypospadias	HP:0000047
4214	MAP3K1	Hirsutism	HP:0001007
4214	MAP3K1	Hypergonadotropic hypogonadism	HP:0000815
4214	MAP3K1	Sparse pubic hair	HP:0002225
4214	MAP3K1	Male infertility	HP:0003251
4214	MAP3K1	Micropenis	HP:0000054
4214	MAP3K1	Delayed puberty	HP:0000823
4214	MAP3K1	Abnormality of the labia	HP:0000058
4214	MAP3K1	Absence of secondary sex characteristics	HP:0008187
4214	MAP3K1	Ambiguous genitalia	HP:0000062
4214	MAP3K1	Delayed skeletal maturation	HP:0002750
4221	MEN1	Hypercalcemia	HP:0003072
4221	MEN1	Gynecomastia	HP:0000771
4221	MEN1	Autosomal dominant inheritance	HP:0000006
4221	MEN1	Internal ophthalmoplegia	HP:0007942
4221	MEN1	Subcutaneous lipoma	HP:0001031
4221	MEN1	Primary hyperparathyroidism	HP:0008200
4221	MEN1	Decreased fertility in males	HP:0012041
4221	MEN1	Headache	HP:0002315
4221	MEN1	Episodic abdominal pain	HP:0002574
4221	MEN1	Parathyroid hyperplasia	HP:0008208
4221	MEN1	Vertigo	HP:0002321
4221	MEN1	Progressive visual loss	HP:0000529
4221	MEN1	Reactive hypoglycemia	HP:0012051
4221	MEN1	Neoplasm of the adrenal gland	HP:0100631
4221	MEN1	Esophagitis	HP:0100633
4221	MEN1	Confetti-like hypopigmented macules	HP:0007449
4221	MEN1	Male hypogonadism	HP:0000026
4221	MEN1	Neuroendocrine neoplasm	HP:0100634
4221	MEN1	Polyphagia	HP:0002591
4221	MEN1	Erythema	HP:0010783
4221	MEN1	Impotence	HP:0000802
4221	MEN1	Hyperphosphaturia	HP:0003109
4221	MEN1	Transient global amnesia	HP:0010534
4221	MEN1	Hypogonadotrophic hypogonadism	HP:0000044
4221	MEN1	Peptic ulcer	HP:0004398
4221	MEN1	Increased circulating cortisol level	HP:0003118
4221	MEN1	Extrahepatic cholestasis	HP:0012334
4221	MEN1	Secondary growth hormone deficiency	HP:0008240
4221	MEN1	Abnormality of the thyroid gland	HP:0000820
4221	MEN1	Pituitary hypothyroidism	HP:0008245
4221	MEN1	Delayed puberty	HP:0000823
4221	MEN1	Hypotension	HP:0002615
4221	MEN1	Bitemporal hemianopia	HP:0030521
4221	MEN1	Tremor	HP:0001337
4221	MEN1	Hyperinsulinemic hypoglycemia	HP:0000825
4221	MEN1	Infantile hypercalcemia	HP:0008250
4221	MEN1	Easy fatigability	HP:0003388
4221	MEN1	Adrenocortical adenoma	HP:0008256
4221	MEN1	Dyspareunia	HP:0030016
4221	MEN1	Decreased female libido	HP:0030018
4221	MEN1	Pancreatic islet cell adenoma	HP:0008261
4221	MEN1	Paresthesia	HP:0003401
4221	MEN1	Hyperparathyroidism	HP:0000843
4221	MEN1	Abnormality of the pancreatic islet cells	HP:0006476
4221	MEN1	Pituitary adenoma	HP:0002893
4221	MEN1	Growth hormone excess	HP:0000845
4221	MEN1	Abnormality of pain sensation	HP:0010832
4221	MEN1	Parathyroid adenoma	HP:0002897
4221	MEN1	Renal insufficiency	HP:0000083
4221	MEN1	Prolactinoma	HP:0040278
4221	MEN1	Thyroid adenoma	HP:0000854
4221	MEN1	Adrenocortical carcinoma	HP:0006744
4221	MEN1	Fatigue	HP:0012378
4221	MEN1	Fasting hyperinsulinemia	HP:0008283
4221	MEN1	Elevated circulating parathyroid hormone level	HP:0003165
4221	MEN1	Sudden loss of visual acuity	HP:0001117
4221	MEN1	Abnormality of hair density	HP:0011357
4221	MEN1	Fourth cranial nerve palsy	HP:0007011
4221	MEN1	Pituitary corticotropic cell adenoma	HP:0008291
4221	MEN1	Hypophosphatemia	HP:0002148
4221	MEN1	Decreased fertility in females	HP:0000868
4221	MEN1	Hypercalciuria	HP:0002150
4221	MEN1	Decreased circulating ACTH level	HP:0002920
4221	MEN1	Blindness	HP:0000618
4221	MEN1	Hearing abnormality	HP:0000364
4221	MEN1	Pituitary prolactin cell adenoma	HP:0006767
4221	MEN1	Angiofibromas	HP:0010615
4221	MEN1	Nephrocalcinosis	HP:0000121
4221	MEN1	Female hypogonadism	HP:0000134
4221	MEN1	Diplopia	HP:0000651
4221	MEN1	Amenorrhea	HP:0000141
4221	MEN1	Hypoglycemia	HP:0001943
4221	MEN1	Insulinoma	HP:0012197
4221	MEN1	Chondrocalcinosis	HP:0000934
4221	MEN1	Nonketotic hypoglycemia	HP:0001958
4221	MEN1	Osteopenia	HP:0000938
4221	MEN1	Palpitations	HP:0001962
4221	MEN1	Osteoporosis	HP:0000939
4221	MEN1	Thymoma	HP:0100522
4221	MEN1	Insomnia	HP:0100785
4221	MEN1	Cafe-au-lait spot	HP:0000957
4221	MEN1	Abnormal rapid eye movement sleep	HP:0002494
4221	MEN1	Abdominal symptom	HP:0011458
4221	MEN1	Glucagonoma	HP:0030404
4221	MEN1	Recurrent hypoglycemia	HP:0001988
4221	MEN1	Hyperhidrosis	HP:0000975
4221	MEN1	Pallor	HP:0000980
4221	MEN1	Oculomotor nerve palsy	HP:0012246
4221	MEN1	Adrenocorticotropin deficient adrenal insufficiency	HP:0011735
4221	MEN1	Carcinoid tumor	HP:0100570
4221	MEN1	Galactorrhea	HP:0100829
4221	MEN1	Vomiting	HP:0002013
4221	MEN1	Diarrhea	HP:0002014
4221	MEN1	Generalized osteoporosis	HP:0040160
4221	MEN1	Increased glucagon level	HP:0030688
4221	MEN1	Seizures	HP:0001250
4221	MEN1	Anxiety	HP:0000739
4221	MEN1	Adrenocorticotropic hormone deficiency	HP:0011748
4221	MEN1	Increased body weight	HP:0004324
4221	MEN1	Lethargy	HP:0001254
4221	MEN1	Coma	HP:0001259
4221	MEN1	Pituitary growth hormone cell adenoma	HP:0011760
4221	MEN1	Cranial nerve VI palsy	HP:0006897
4221	MEN1	Pituitary null cell adenoma	HP:0011761
4221	MEN1	Fluctuations in consciousness	HP:0007159
4221	MEN1	Adenoma sebaceum	HP:0009720
4221	MEN1	Abnormality of vision	HP:0000504
4221	MEN1	Zollinger-Ellison syndrome	HP:0002044
4221	MEN1	Ptosis	HP:0000508
4221	MEN1	Generalized muscle weakness	HP:0003324
4221	MEN1	Increased urinary cortisol level	HP:0012030
4222	MEOX1	Facial asymmetry	HP:0000324
4222	MEOX1	Abnormality of the ribs	HP:0000772
4222	MEOX1	Fused cervical vertebrae	HP:0002949
4222	MEOX1	Autosomal recessive inheritance	HP:0000007
4222	MEOX1	Abnormal vertebral segmentation and fusion	HP:0005640
4222	MEOX1	Abnormal cranial nerve morphology	HP:0001291
4222	MEOX1	Cleft upper lip	HP:0000204
4222	MEOX1	Sprengel anomaly	HP:0000912
4222	MEOX1	Webbed neck	HP:0000465
4222	MEOX1	Limited neck range of motion	HP:0000466
4222	MEOX1	Conductive hearing impairment	HP:0000405
4222	MEOX1	Hemiplegia/hemiparesis	HP:0004374
4222	MEOX1	Short neck	HP:0000470
4222	MEOX1	Sensorineural hearing impairment	HP:0000407
4222	MEOX1	Scoliosis	HP:0002650
4222	MEOX1	Ventricular septal defect	HP:0001629
4222	MEOX1	Abnormality of the shoulder	HP:0003043
4222	MEOX1	Congenital muscular torticollis	HP:0005988
4222	MEOX1	Renal hypoplasia/aplasia	HP:0008678
4222	MEOX1	Anal atresia	HP:0002023
4222	MEOX1	Hearing impairment	HP:0000365
4222	MEOX1	Ectopic anus	HP:0004397
4222	MEOX1	Spina bifida	HP:0002414
4222	MEOX1	Cleft palate	HP:0000175
4222	MEOX1	Low posterior hairline	HP:0002162
4222	MEOX1	Abnormal sacrum morphology	HP:0005107
4222	MEOX1	Abnormality of the pinna	HP:0000377
4222	MEOX1	Cervical C2/C3 vertebral fusion	HP:0004602
4222	MEOX1	Cognitive impairment	HP:0100543
4233	MET	Hepatomegaly	HP:0002240
4233	MET	Portal vein thrombosis	HP:0030242
4233	MET	Micronodular cirrhosis	HP:0001413
4233	MET	Epigastric pain	HP:0410019
4233	MET	Autosomal dominant inheritance	HP:0000006
4233	MET	Autosomal recessive inheritance	HP:0000007
4233	MET	Abdominal pain	HP:0002027
4233	MET	Subacute progressive viral hepatitis	HP:0006572
4233	MET	Hepatic necrosis	HP:0002605
4233	MET	Papillary renal cell carcinoma	HP:0006766
4233	MET	Elevated alpha-fetoprotein	HP:0006254
4233	MET	Heterogeneous	HP:0001425
4233	MET	Hepatic fibrosis	HP:0001395
4233	MET	Somatic mutation	HP:0001428
4233	MET	Incomplete penetrance	HP:0003829
4233	MET	Sensorineural hearing impairment	HP:0000407
4233	MET	Hepatocellular carcinoma	HP:0001402
4233	MET	Fatigue	HP:0012378
4233	MET	Vomiting	HP:0002013
643226	GRXCR2	Autosomal recessive inheritance	HP:0000007
643226	GRXCR2	Bilateral sensorineural hearing impairment	HP:0008619
4247	MGAT2	Macrocephaly	HP:0000256
4247	MGAT2	Sparse hair	HP:0008070
4247	MGAT2	Autosomal recessive inheritance	HP:0000007
4247	MGAT2	Reduced factor XI activity	HP:0001929
4247	MGAT2	Generalized hypotonia	HP:0001290
4247	MGAT2	Abnormality of the rib cage	HP:0001547
4247	MGAT2	Unsteady gait	HP:0002317
4247	MGAT2	Type II transferrin isoform profile	HP:0012301
4247	MGAT2	Long eyelashes	HP:0000527
4247	MGAT2	Macrotia	HP:0000400
4247	MGAT2	Retrognathia	HP:0000278
4247	MGAT2	Proximal placement of thumb	HP:0009623
4247	MGAT2	Sensorineural hearing impairment	HP:0000407
4247	MGAT2	Wide mouth	HP:0000154
4247	MGAT2	Slender long bone	HP:0003100
4247	MGAT2	Macrodontia	HP:0001572
4247	MGAT2	Abnormality of the dentition	HP:0000164
4247	MGAT2	Low hanging columella	HP:0009765
4247	MGAT2	Prominent nasal bridge	HP:0000426
4247	MGAT2	Midfrontal capillary hemangioma	HP:0007466
4247	MGAT2	Osteopenia	HP:0000938
4247	MGAT2	Protruding tongue	HP:0010808
4247	MGAT2	Reduced antithrombin III activity	HP:0001976
4247	MGAT2	Diastema	HP:0000699
4247	MGAT2	Thick eyebrow	HP:0000574
4247	MGAT2	Postnatal growth retardation	HP:0008897
4247	MGAT2	Open mouth	HP:0000194
4247	MGAT2	Aggressive behavior	HP:0000718
4247	MGAT2	Reduced factor IX activity	HP:0011858
4247	MGAT2	Gingival overgrowth	HP:0000212
4247	MGAT2	Short neck	HP:0000470
4247	MGAT2	Abnormal isoelectric focusing of serum transferrin	HP:0003160
4247	MGAT2	Stereotypy	HP:0000733
4247	MGAT2	Ventricular septal defect	HP:0001629
4247	MGAT2	Thoracolumbar kyphoscoliosis	HP:0003423
4247	MGAT2	Short stature	HP:0004322
4247	MGAT2	Seizures	HP:0001250
4247	MGAT2	Tall stature	HP:0000098
4247	MGAT2	Pes planus	HP:0001763
4247	MGAT2	Failure to thrive	HP:0001508
4247	MGAT2	Posteriorly rotated ears	HP:0000358
4247	MGAT2	Self-mutilation	HP:0000742
4247	MGAT2	Intellectual disability, progressive	HP:0006887
4247	MGAT2	Everted lower lip vermilion	HP:0000232
4247	MGAT2	Reduced factor XII activity	HP:0004841
4247	MGAT2	Thin vermilion border	HP:0000233
4247	MGAT2	Downslanted palpebral fissures	HP:0000494
4247	MGAT2	Hirsutism	HP:0001007
4247	MGAT2	Intellectual disability, severe	HP:0010864
4247	MGAT2	Coxa valga	HP:0002673
4247	MGAT2	Brachycephaly	HP:0000248
4247	MGAT2	Hypertonia	HP:0001276
4247	MGAT2	Microcephaly	HP:0000252
4247	MGAT2	Pectus excavatum	HP:0000767
53405	CLIC5	Sensorineural hearing impairment	HP:0000407
53405	CLIC5	Autosomal recessive inheritance	HP:0000007
53405	CLIC5	Vestibular areflexia	HP:0008568
53405	CLIC5	Infantile onset	HP:0003593
4254	KITLG	Hyperkeratosis	HP:0000962
4254	KITLG	White forelock	HP:0002211
4254	KITLG	Autosomal dominant inheritance	HP:0000006
4254	KITLG	Premature graying of hair	HP:0002216
4254	KITLG	Infantile onset	HP:0003593
4254	KITLG	Multiple lentigines	HP:0001003
4254	KITLG	Aganglionic megacolon	HP:0002251
4254	KITLG	Heterochromia iridis	HP:0001100
4254	KITLG	Abnormality of the kidney	HP:0000077
4254	KITLG	Progressive hyperpigmentation	HP:0007505
4254	KITLG	Vitiligo	HP:0001045
4254	KITLG	Sensorineural hearing impairment	HP:0000407
4254	KITLG	Telecanthus	HP:0000506
4254	KITLG	Ptosis	HP:0000508
4254	KITLG	Cafe-au-lait spot	HP:0000957
4254	KITLG	Hypopigmented skin patches	HP:0001053
4254	KITLG	Abnormality of the pulmonary artery	HP:0004414
4255	MGMT	Neoplasm of the stomach	HP:0006753
4255	MGMT	Nevus	HP:0003764
4255	MGMT	Abnormality of extrapyramidal motor function	HP:0002071
4255	MGMT	Retinopathy	HP:0000488
4255	MGMT	Freckling	HP:0001480
4255	MGMT	Abnormality of the lymphatic system	HP:0100763
4255	MGMT	Abnormal hair morphology	HP:0001595
4255	MGMT	Neoplasm of the breast	HP:0100013
4255	MGMT	Melanoma	HP:0002861
4255	MGMT	Neoplasm of the pancreas	HP:0002894
4255	MGMT	Dry skin	HP:0000958
4256	MGP	Soft, doughy skin	HP:0001027
4256	MGP	Autosomal recessive inheritance	HP:0000007
4256	MGP	Obstructive lung disease	HP:0006536
4256	MGP	Optic atrophy	HP:0000648
4256	MGP	Nasal speech	HP:0001611
4256	MGP	Tracheal atresia	HP:0100682
4256	MGP	Macrotia	HP:0000400
4256	MGP	Malar flattening	HP:0000272
4256	MGP	Cerebral calcification	HP:0002514
4256	MGP	Deep philtrum	HP:0002002
4256	MGP	Recurrent otitis media	HP:0000403
4256	MGP	Long face	HP:0000276
4256	MGP	Spontaneous abortion	HP:0005268
4256	MGP	Sloping forehead	HP:0000340
4256	MGP	Recurrent bronchitis	HP:0002837
4256	MGP	Midface retrusion	HP:0011800
4256	MGP	Short distal phalanx of finger	HP:0009882
4256	MGP	Cartilaginous ossification of nose	HP:0005275
4256	MGP	Ventricular septal defect	HP:0001629
4256	MGP	Epiphyseal stippling	HP:0010655
4256	MGP	Depressed nasal bridge	HP:0005280
4256	MGP	Seizures	HP:0001250
4256	MGP	Short stature	HP:0004322
4256	MGP	Growth abnormality	HP:0001507
4256	MGP	Recurrent sinusitis	HP:0011108
4256	MGP	Chronic sinusitis	HP:0011109
4256	MGP	Intellectual disability, mild	HP:0001256
4256	MGP	Peripheral pulmonary artery stenosis	HP:0004969
4256	MGP	Pulmonic stenosis	HP:0001642
4256	MGP	Cartilaginous ossification of larynx	HP:0008747
4256	MGP	Pulmonary artery hypoplasia	HP:0004971
4256	MGP	Pulmonary arterial hypertension	HP:0002092
4256	MGP	Hearing impairment	HP:0000365
4256	MGP	Underdeveloped nasal alae	HP:0000430
4256	MGP	Dermal atrophy	HP:0004334
4256	MGP	Calcification of the auricular cartilage	HP:0005103
4256	MGP	Global developmental delay	HP:0001263
4256	MGP	Calcification of cartilage	HP:0100593
4256	MGP	Emphysema	HP:0002097
4256	MGP	Short thumb	HP:0009778
4256	MGP	Hypertension	HP:0000822
4256	MGP	Sinusitis	HP:0000246
4256	MGP	Costal cartilage calcification	HP:0006646
4256	MGP	Premature fusion of phalangeal epiphyses	HP:0006140
4256	MGP	Alopecia	HP:0001596
4256	MGP	Short hallux	HP:0010109
4256	MGP	Wide nose	HP:0000445
4256	MGP	Pulmonary artery stenosis	HP:0004415
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	Cholangitis	HP:0030151
4261	CIITA	Chronic mucocutaneous candidiasis	HP:0002728
4261	CIITA	Malabsorption	HP:0002024
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	Recurrent fungal infections	HP:0002841
4261	CIITA	Recurrent bacterial infections	HP:0002718
4261	CIITA	Recurrent lower respiratory tract infections	HP:0002783
200879	LIPH	Comedo	HP:0025249
200879	LIPH	Fine hair	HP:0002213
200879	LIPH	Strabismus	HP:0000486
200879	LIPH	Cataract	HP:0000518
200879	LIPH	Autosomal recessive inheritance	HP:0000007
200879	LIPH	Abnormal pupil morphology	HP:0000615
200879	LIPH	Slow-growing hair	HP:0002217
200879	LIPH	Sparse eyelashes	HP:0000653
200879	LIPH	Hypotrichosis of the scalp	HP:0004782
200879	LIPH	Hypotrichosis	HP:0001006
200879	LIPH	Woolly hair	HP:0002224
200879	LIPH	Sparse and thin eyebrow	HP:0000535
200879	LIPH	Sparse body hair	HP:0002231
200879	LIPH	Sparse lateral eyebrow	HP:0005338
200879	LIPH	Brittle hair	HP:0002299
200879	LIPH	Alopecia	HP:0001596
200879	LIPH	Hypopigmentation of hair	HP:0005599
200879	LIPH	Abnormal retinal morphology	HP:0000479
4281	MID1	Abnormality of the nasopharynx	HP:0001739
4281	MID1	X-linked recessive inheritance	HP:0001419
4281	MID1	Cleft upper lip	HP:0000204
4281	MID1	Anteverted nares	HP:0000463
4281	MID1	Heterogeneous	HP:0001425
4281	MID1	Aspiration	HP:0002835
4281	MID1	Prominent forehead	HP:0011220
4281	MID1	Frontal bossing	HP:0002007
4281	MID1	Abnormality of cardiovascular system morphology	HP:0030680
4281	MID1	High palate	HP:0000218
4281	MID1	Thin upper lip vermilion	HP:0000219
4281	MID1	Abnormal heart morphology	HP:0001627
4281	MID1	Cryptorchidism	HP:0000028
4281	MID1	Widow's peak	HP:0000349
4281	MID1	Dysphagia	HP:0002015
4281	MID1	Gastroesophageal reflux	HP:0002020
4281	MID1	Anal atresia	HP:0002023
4281	MID1	Cleft palate	HP:0000175
4281	MID1	Hypospadias	HP:0000047
4281	MID1	Global developmental delay	HP:0001263
4281	MID1	Wide nasal bridge	HP:0000431
4281	MID1	Agenesis of corpus callosum	HP:0001274
4281	MID1	Telecanthus	HP:0000506
4281	MID1	Hypertelorism	HP:0000316
4281	MID1	Posterior pharyngeal cleft	HP:0006783
4281	MID1	Smooth philtrum	HP:0000319
4282	MIF	Hepatomegaly	HP:0002240
4282	MIF	Pericarditis	HP:0001701
4282	MIF	Joint swelling	HP:0001386
4282	MIF	Abdominal pain	HP:0002027
4282	MIF	Arthralgia	HP:0002829
4282	MIF	Elevated erythrocyte sedimentation rate	HP:0003565
4282	MIF	Splenomegaly	HP:0001744
4282	MIF	Autoimmunity	HP:0002960
4282	MIF	Juvenile rheumatoid arthritis	HP:0005681
4282	MIF	Fever	HP:0001945
4282	MIF	Anterior uveitis	HP:0012122
4282	MIF	Pleural effusion	HP:0002202
4282	MIF	Elevated C-reactive protein level	HP:0011227
4282	MIF	Skin rash	HP:0000988
4282	MIF	Lymphadenopathy	HP:0002716
4284	MIP	Cortical cataract	HP:0100019
4284	MIP	Lamellar cataract	HP:0007971
4284	MIP	Nuclear cataract	HP:0100018
4284	MIP	Autosomal dominant inheritance	HP:0000006
4284	MIP	Cataract	HP:0000518
4284	MIP	Developmental cataract	HP:0000519
4285	MIPEP	Feeding difficulties	HP:0011968
4285	MIPEP	Seizures	HP:0001250
4285	MIPEP	Failure to thrive	HP:0001508
4285	MIPEP	Cataract	HP:0000518
4285	MIPEP	Increased serum lactate	HP:0002151
4285	MIPEP	Hypertrophic cardiomyopathy	HP:0001639
4285	MIPEP	Autosomal recessive inheritance	HP:0000007
4285	MIPEP	Infantile onset	HP:0003593
4285	MIPEP	Generalized hypotonia	HP:0001290
4285	MIPEP	Global developmental delay	HP:0001263
4285	MIPEP	Hyperalaninemia	HP:0003348
4285	MIPEP	Lactic acidosis	HP:0003128
4285	MIPEP	Left ventricular noncompaction	HP:0030682
4285	MIPEP	Hypertonia	HP:0001276
4285	MIPEP	Microcephaly	HP:0000252
282809	POC1B	Cone/cone-rod dystrophy	HP:0000548
282809	POC1B	Photophobia	HP:0000613
282809	POC1B	Nyctalopia	HP:0000662
282809	POC1B	Color vision defect	HP:0000551
282809	POC1B	Abnormality of retinal pigmentation	HP:0007703
282809	POC1B	Autosomal recessive inheritance	HP:0000007
282809	POC1B	Visual impairment	HP:0000505
282809	POC1B	Central scotoma	HP:0000603
282809	POC1B	Constriction of peripheral visual field	HP:0001133
282809	POC1B	Reduced visual acuity	HP:0007663
282809	POC1B	Nystagmus	HP:0000639
200894	ARL13B	Pigmentary retinopathy	HP:0000580
200894	ARL13B	Biparietal narrowing	HP:0004422
200894	ARL13B	Autosomal recessive inheritance	HP:0000007
200894	ARL13B	Gait disturbance	HP:0001288
200894	ARL13B	Hand polydactyly	HP:0001161
200894	ARL13B	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
200894	ARL13B	Oral cleft	HP:0000202
200894	ARL13B	Generalized hypotonia	HP:0001290
200894	ARL13B	Aganglionic megacolon	HP:0002251
200894	ARL13B	Polymicrogyria	HP:0002126
200894	ARL13B	Anteverted nares	HP:0000463
200894	ARL13B	Oculomotor apraxia	HP:0000657
200894	ARL13B	Long face	HP:0000276
200894	ARL13B	Scoliosis	HP:0002650
200894	ARL13B	Optic disc pallor	HP:0000543
200894	ARL13B	Abnormality of the hypothalamus-pituitary axis	HP:0000864
200894	ARL13B	Situs inversus totalis	HP:0001696
200894	ARL13B	Intellectual disability	HP:0001249
200894	ARL13B	Seizures	HP:0001250
200894	ARL13B	Ataxia	HP:0001251
200894	ARL13B	Iris coloboma	HP:0000612
200894	ARL13B	Muscular hypotonia	HP:0001252
200894	ARL13B	Encephalocele	HP:0002084
200894	ARL13B	Foot polydactyly	HP:0001829
200894	ARL13B	Occipital encephalocele	HP:0002085
200894	ARL13B	Strabismus	HP:0000486
200894	ARL13B	Cerebellar vermis hypoplasia	HP:0001320
200894	ARL13B	Feeding difficulties in infancy	HP:0008872
200894	ARL13B	Obesity	HP:0001513
200894	ARL13B	Prominent nasal bridge	HP:0000426
200894	ARL13B	Hydrocephalus	HP:0000238
200894	ARL13B	Global developmental delay	HP:0001263
200894	ARL13B	Abnormal form of the vertebral bodies	HP:0003312
200894	ARL13B	Low-set ears	HP:0000369
200894	ARL13B	Molar tooth sign on MRI	HP:0002419
200894	ARL13B	Apnea	HP:0002104
200894	ARL13B	Highly arched eyebrow	HP:0002553
200894	ARL13B	Tremor	HP:0001337
200894	ARL13B	Ptosis	HP:0000508
200894	ARL13B	Episodic tachypnea	HP:0002876
200894	ARL13B	Nystagmus	HP:0000639
4286	MITF	Macrocephaly	HP:0000256
4286	MITF	Autosomal dominant inheritance	HP:0000006
4286	MITF	Autosomal recessive inheritance	HP:0000007
4286	MITF	X-linked inheritance	HP:0001417
4286	MITF	Generalized hypotonia	HP:0001290
4286	MITF	Heterogeneous	HP:0001425
4286	MITF	Partial albinism	HP:0007443
4286	MITF	Abnormality of extrapyramidal motor function	HP:0002071
4286	MITF	Sensorineural hearing impairment	HP:0000407
4286	MITF	Synophrys	HP:0000664
4286	MITF	Abnormality of the lymphatic system	HP:0100763
4286	MITF	Hypermetropia	HP:0000540
4286	MITF	Hypopigmented skin patches	HP:0001053
4286	MITF	White forelock	HP:0002211
4286	MITF	Premature graying of hair	HP:0002216
4286	MITF	Bilateral sensorineural hearing impairment	HP:0008619
4286	MITF	Neoplasm of the breast	HP:0100013
4286	MITF	Melanoma	HP:0002861
4286	MITF	Underdeveloped nasal alae	HP:0000430
4286	MITF	Wide nasal bridge	HP:0000431
4286	MITF	White eyebrow	HP:0002226
4286	MITF	White eyelashes	HP:0002227
4286	MITF	Nevus	HP:0003764
4286	MITF	Hypoplastic iris stroma	HP:0007990
4286	MITF	Microphthalmia	HP:0000568
4286	MITF	Abnormal hair morphology	HP:0001595
4286	MITF	Dry skin	HP:0000958
4286	MITF	Abnormality of the pulmonary artery	HP:0004414
4286	MITF	Optic nerve dysplasia	HP:0001093
4286	MITF	Hypoplasia of the fovea	HP:0007750
4286	MITF	Freckling	HP:0001480
4286	MITF	Shallow orbits	HP:0000586
4286	MITF	Aganglionic megacolon	HP:0002251
4286	MITF	Heterochromia iridis	HP:0001100
4286	MITF	Coloboma	HP:0000589
4286	MITF	Abnormality of the kidney	HP:0000077
4286	MITF	Neoplasm of the pancreas	HP:0002894
4286	MITF	Congenital sensorineural hearing impairment	HP:0008527
4286	MITF	Abnormal anterior chamber morphology	HP:0000593
4286	MITF	Ocular albinism	HP:0001107
4286	MITF	Hypopigmentation of the fundus	HP:0007894
4286	MITF	Frontal bossing	HP:0002007
4286	MITF	Giant melanosomes in melanocytes	HP:0005592
4286	MITF	Generalized hypopigmentation	HP:0007513
4286	MITF	Micrognathia	HP:0000347
4286	MITF	Vestibular hypofunction	HP:0001756
4286	MITF	Hypopigmentation of hair	HP:0005599
4286	MITF	Neoplasm of the stomach	HP:0006753
4286	MITF	Photophobia	HP:0000613
4286	MITF	Posteriorly rotated ears	HP:0000358
4286	MITF	Strabismus	HP:0000486
4286	MITF	Retinopathy	HP:0000488
4286	MITF	Multiple lentigines	HP:0001003
4286	MITF	Hearing impairment	HP:0000365
4286	MITF	Reduced visual acuity	HP:0007663
4286	MITF	Hypopigmentation of the skin	HP:0001010
4286	MITF	Preauricular pit	HP:0004467
4286	MITF	Variable expressivity	HP:0003828
4286	MITF	Visual impairment	HP:0000505
4286	MITF	Osteopetrosis	HP:0011002
4286	MITF	Telecanthus	HP:0000506
4286	MITF	Blue irides	HP:0000635
4286	MITF	Ptosis	HP:0000508
4286	MITF	Albinism	HP:0001022
4286	MITF	Nystagmus	HP:0000639
4287	ATXN3	Gaze-evoked nystagmus	HP:0000640
4287	ATXN3	Dysmetric saccades	HP:0000641
4287	ATXN3	EMG abnormality	HP:0003457
4287	ATXN3	Autosomal dominant inheritance	HP:0000006
4287	ATXN3	Proptosis	HP:0000520
4287	ATXN3	Clumsiness	HP:0002312
4287	ATXN3	Diplopia	HP:0000651
4287	ATXN3	Neurogenic bladder	HP:0000011
4287	ATXN3	Rigidity	HP:0002063
4287	ATXN3	Abnormality of temperature regulation	HP:0004370
4287	ATXN3	Bradykinesia	HP:0002067
4287	ATXN3	Parkinsonism	HP:0001300
4287	ATXN3	Peripheral axonal neuropathy	HP:0003477
4287	ATXN3	Dilated fourth ventricle	HP:0002198
4287	ATXN3	Limb ataxia	HP:0002070
4287	ATXN3	Urinary bladder sphincter dysfunction	HP:0002839
4287	ATXN3	Abnormality of extrapyramidal motor function	HP:0002071
4287	ATXN3	Progressive cerebellar ataxia	HP:0002073
4287	ATXN3	Distal muscle weakness	HP:0002460
4287	ATXN3	Truncal ataxia	HP:0002078
4287	ATXN3	Genetic anticipation	HP:0003743
4287	ATXN3	Babinski sign	HP:0003487
4287	ATXN3	External ophthalmoplegia	HP:0000544
4287	ATXN3	Abnormal autonomic nervous system physiology	HP:0012332
4287	ATXN3	Facial-lingual fasciculations	HP:0007089
4287	ATXN3	Memory impairment	HP:0002354
4287	ATXN3	Dystonia	HP:0001332
4287	ATXN3	Substantia nigra gliosis	HP:0011960
4287	ATXN3	Sleep disturbance	HP:0002360
4287	ATXN3	Abnormal lower motor neuron morphology	HP:0002366
4287	ATXN3	Impaired vibratory sensation	HP:0002495
4287	ATXN3	Muscle spasm	HP:0003394
4287	ATXN3	Hyperreflexia	HP:0001347
4287	ATXN3	Vocal cord paralysis	HP:0001605
4287	ATXN3	Spinocerebellar tract degeneration	HP:0002503
4287	ATXN3	Progressive gait ataxia	HP:0007240
4287	ATXN3	Fasciculations	HP:0002380
4287	ATXN3	Degeneration of the striatum	HP:0040140
4287	ATXN3	Progressive external ophthalmoplegia	HP:0000590
4287	ATXN3	Dementia	HP:0000726
4287	ATXN3	Vestibular dysfunction	HP:0001751
4287	ATXN3	Progressive	HP:0003676
4287	ATXN3	Degeneration of anterior horn cells	HP:0002398
4287	ATXN3	Dysphagia	HP:0002015
4287	ATXN3	Ataxia	HP:0001251
4287	ATXN3	Peripheral neuropathy	HP:0009830
4287	ATXN3	Spasticity	HP:0001257
4287	ATXN3	Dysarthria	HP:0001260
4287	ATXN3	Distal amyotrophy	HP:0003693
4287	ATXN3	Absent Achilles reflex	HP:0003438
4287	ATXN3	Delayed speech and language development	HP:0000750
4287	ATXN3	Supranuclear ophthalmoplegia	HP:0000623
4287	ATXN3	Distal lower limb amyotrophy	HP:0008944
4287	ATXN3	Chronic pain	HP:0012532
4287	ATXN3	Abnormal electrooculogram	HP:0030454
4287	ATXN3	Cerebellar atrophy	HP:0001272
4287	ATXN3	Gliosis	HP:0002171
4287	ATXN3	Postural instability	HP:0002172
4287	ATXN3	Ptosis	HP:0000508
4287	ATXN3	Impaired horizontal smooth pursuit	HP:0001151
4291	MLF1	Somatic mutation	HP:0001428
4291	MLF1	Autosomal dominant inheritance	HP:0000006
4291	MLF1	Acute myeloid leukemia	HP:0004808
4292	MLH1	Death in early adulthood	HP:0100613
4292	MLH1	Autosomal dominant inheritance	HP:0000006
4292	MLH1	Ovarian neoplasm	HP:0100615
4292	MLH1	Neoplasm of the rectum	HP:0100743
4292	MLH1	Autosomal recessive inheritance	HP:0000007
4292	MLH1	Gait disturbance	HP:0001288
4292	MLH1	Hypermelanotic macule	HP:0001034
4292	MLH1	Carcinoma	HP:0030731
4292	MLH1	Glioblastoma multiforme	HP:0012174
4292	MLH1	Hemiplegia/hemiparesis	HP:0004374
4292	MLH1	Hematological neoplasm	HP:0004377
4292	MLH1	Agnosia	HP:0010524
4292	MLH1	Migraine	HP:0002076
4292	MLH1	Abnormality of abdomen morphology	HP:0001438
4292	MLH1	Dysgraphia	HP:0010526
4292	MLH1	Weight loss	HP:0001824
4292	MLH1	Urinary tract neoplasm	HP:0010786
4292	MLH1	Rhabdomyosarcoma	HP:0002859
4292	MLH1	Memory impairment	HP:0002354
4292	MLH1	Dyskinesia	HP:0100660
4292	MLH1	Breast carcinoma	HP:0003002
4292	MLH1	Colon cancer	HP:0003003
4292	MLH1	Cafe-au-lait spot	HP:0000957
4292	MLH1	Neuroblastoma	HP:0003006
4292	MLH1	Neoplasm of the thyroid gland	HP:0100031
4292	MLH1	Benign gastrointestinal tract tumors	HP:0006719
4292	MLH1	Gastrointestinal hemorrhage	HP:0002239
4292	MLH1	Medulloblastoma	HP:0002885
4292	MLH1	Pancreatic adenocarcinoma	HP:0006725
4292	MLH1	Ependymoma	HP:0002888
4292	MLH1	Developmental regression	HP:0002376
4292	MLH1	Paresthesia	HP:0003401
4292	MLH1	Sebaceous gland carcinoma	HP:0030410
4292	MLH1	Intestinal polyposis	HP:0200008
4292	MLH1	Depressivity	HP:0000716
4292	MLH1	Colonic diverticula	HP:0002253
4292	MLH1	Salivary gland neoplasm	HP:0100684
4292	MLH1	Pituitary adenoma	HP:0002893
4292	MLH1	Neoplasm of the liver	HP:0002896
4292	MLH1	Endometrial carcinoma	HP:0012114
4292	MLH1	Increased intracranial pressure	HP:0002516
4292	MLH1	Laryngeal carcinoma	HP:0012118
4292	MLH1	Abnormal pyramidal sign	HP:0007256
4292	MLH1	Cardiac diverticulum	HP:0100571
4292	MLH1	Fatigue	HP:0012378
4292	MLH1	Flexion contracture	HP:0001371
4292	MLH1	Neoplasm of the stomach	HP:0006753
4292	MLH1	Nausea and vomiting	HP:0002017
4292	MLH1	Irritability	HP:0000737
4292	MLH1	Amaurosis fugax	HP:0100576
4292	MLH1	Hallucinations	HP:0000738
4292	MLH1	Seizures	HP:0001250
4292	MLH1	Benign neoplasm of the central nervous system	HP:0100835
4292	MLH1	Visual field defect	HP:0001123
4292	MLH1	Anxiety	HP:0000739
4292	MLH1	Constipation	HP:0002019
4292	MLH1	Muscular hypotonia	HP:0001252
4292	MLH1	Axillary freckling	HP:0000997
4292	MLH1	Malignant genitourinary tract tumor	HP:0006758
4292	MLH1	Malabsorption	HP:0002024
4292	MLH1	Lymphoma	HP:0002665
4292	MLH1	Attention deficit hyperactivity disorder	HP:0007018
4292	MLH1	Abdominal pain	HP:0002027
4292	MLH1	Dysarthria	HP:0001260
4292	MLH1	Basal cell carcinoma	HP:0002671
4292	MLH1	Death in infancy	HP:0001522
4292	MLH1	Duodenal adenocarcinoma	HP:0006771
4292	MLH1	Leukemia	HP:0001909
4292	MLH1	Astrocytoma	HP:0009592
4292	MLH1	Adenoma sebaceum	HP:0009720
4292	MLH1	Agenesis of corpus callosum	HP:0001274
4292	MLH1	Benign genitourinary tract neoplasm	HP:0006778
4292	MLH1	Hepatocellular carcinoma	HP:0001402
4292	MLH1	Hypertonia	HP:0001276
4292	MLH1	Renal neoplasm	HP:0009726
4292	MLH1	Neoplasm of the skeletal system	HP:0010622
4297	KMT2A	Multicystic kidney dysplasia	HP:0000003
4297	KMT2A	Cataract	HP:0000518
4297	KMT2A	Intestinal malrotation	HP:0002566
4297	KMT2A	Autosomal dominant inheritance	HP:0000006
4297	KMT2A	Congenital diaphragmatic hernia	HP:0000776
4297	KMT2A	Generalized hypotonia	HP:0001290
4297	KMT2A	Hip dislocation	HP:0002827
4297	KMT2A	Dolichocephaly	HP:0000268
4297	KMT2A	Long eyelashes	HP:0000527
4297	KMT2A	Primary amenorrhea	HP:0000786
4297	KMT2A	Volvulus	HP:0002580
4297	KMT2A	Prenatal movement abnormality	HP:0001557
4297	KMT2A	Cryptorchidism	HP:0000028
4297	KMT2A	Epicanthus	HP:0000286
4297	KMT2A	Hypoplasia of penis	HP:0008736
4297	KMT2A	Myopia	HP:0000545
4297	KMT2A	Low anterior hairline	HP:0000294
4297	KMT2A	Short toe	HP:0001831
4297	KMT2A	Hypospadias	HP:0000047
4297	KMT2A	Short 1st metacarpal	HP:0010034
4297	KMT2A	Delayed puberty	HP:0000823
4297	KMT2A	Round face	HP:0000311
4297	KMT2A	Sleep disturbance	HP:0002360
4297	KMT2A	Aplasia/Hypoplasia of the ribs	HP:0006712
4297	KMT2A	Growth hormone deficiency	HP:0000824
4297	KMT2A	Psychomotor deterioration	HP:0002361
4297	KMT2A	Hypoplastic labia majora	HP:0000059
4297	KMT2A	Abnormally low-pitched voice	HP:0010300
4297	KMT2A	Hypertelorism	HP:0000316
4297	KMT2A	Thick eyebrow	HP:0000574
4297	KMT2A	Facial asymmetry	HP:0000324
4297	KMT2A	Blepharophimosis	HP:0000581
4297	KMT2A	Ventriculomegaly	HP:0002119
4297	KMT2A	Cerebral cortical atrophy	HP:0002120
4297	KMT2A	Vesicoureteral reflux	HP:0000076
4297	KMT2A	Flat face	HP:0012368
4297	KMT2A	Renal insufficiency	HP:0000083
4297	KMT2A	Abnormality of the elbow	HP:0009811
4297	KMT2A	Premature birth	HP:0001622
4297	KMT2A	Long philtrum	HP:0000343
4297	KMT2A	Broad-based gait	HP:0002136
4297	KMT2A	Micrognathia	HP:0000347
4297	KMT2A	Talipes	HP:0001883
4297	KMT2A	High forehead	HP:0000348
4297	KMT2A	Ventricular septal defect	HP:0001629
4297	KMT2A	Atrial septal defect	HP:0001631
4297	KMT2A	Peripheral neuropathy	HP:0009830
4297	KMT2A	Hip dysplasia	HP:0001385
4297	KMT2A	Attention deficit hyperactivity disorder	HP:0007018
4297	KMT2A	Joint stiffness	HP:0001387
4297	KMT2A	Intellectual disability, severe	HP:0010864
4297	KMT2A	Low-set, posteriorly rotated ears	HP:0000368
4297	KMT2A	Clinodactyly of the 5th finger	HP:0004209
4297	KMT2A	Low-set ears	HP:0000369
4297	KMT2A	Low posterior hairline	HP:0002162
4297	KMT2A	Small hand	HP:0200055
4297	KMT2A	Neurological speech impairment	HP:0002167
4297	KMT2A	Short nose	HP:0003196
4297	KMT2A	Nystagmus	HP:0000639
4297	KMT2A	Increased nuchal translucency	HP:0010880
4297	KMT2A	Abnormality of the uterus	HP:0000130
4297	KMT2A	Oligodactyly	HP:0012165
4297	KMT2A	Macrotia	HP:0000400
4297	KMT2A	Severe postnatal growth retardation	HP:0008850
4297	KMT2A	Delayed gross motor development	HP:0002194
4297	KMT2A	Conductive hearing impairment	HP:0000405
4297	KMT2A	Sensorineural hearing impairment	HP:0000407
4297	KMT2A	Proximal placement of thumb	HP:0009623
4297	KMT2A	Synophrys	HP:0000664
4297	KMT2A	Downturned corners of mouth	HP:0002714
4297	KMT2A	Phthisis bulbi	HP:0000667
4297	KMT2A	Atresia of the external auditory canal	HP:0000413
4297	KMT2A	Radioulnar synostosis	HP:0002974
4297	KMT2A	Tapered finger	HP:0001182
4297	KMT2A	Depressed nasal bridge	HP:0005280
4297	KMT2A	Truncal obesity	HP:0001956
4297	KMT2A	Micromelia	HP:0002983
4297	KMT2A	Feeding difficulties in infancy	HP:0008872
4297	KMT2A	Delayed eruption of teeth	HP:0000684
4297	KMT2A	Bilateral single transverse palmar creases	HP:0007598
4297	KMT2A	Cleft palate	HP:0000175
4297	KMT2A	Widely spaced teeth	HP:0000687
4297	KMT2A	Wide nasal bridge	HP:0000431
4297	KMT2A	Depressed nasal tip	HP:0000437
4297	KMT2A	Generalized hirsutism	HP:0002230
4297	KMT2A	Short middle phalanx of finger	HP:0005819
4297	KMT2A	Congenital, generalized hypertrichosis	HP:0004540
4297	KMT2A	Wide nose	HP:0000445
4297	KMT2A	Delayed skeletal maturation	HP:0002750
4297	KMT2A	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4297	KMT2A	Sacral dimple	HP:0000960
4297	KMT2A	Feeding difficulties	HP:0011968
4297	KMT2A	Postnatal growth retardation	HP:0008897
4297	KMT2A	Cutis marmorata	HP:0000965
4297	KMT2A	Choanal atresia	HP:0000453
4297	KMT2A	Rhizomelia	HP:0008905
4297	KMT2A	Short palpebral fissure	HP:0012745
4297	KMT2A	Autism	HP:0000717
4297	KMT2A	Aggressive behavior	HP:0000718
4297	KMT2A	Anteverted nares	HP:0000463
4297	KMT2A	Webbed neck	HP:0000465
4297	KMT2A	Obsessive-compulsive behavior	HP:0000722
4297	KMT2A	Short neck	HP:0000470
4297	KMT2A	High palate	HP:0000218
4297	KMT2A	Thin upper lip vermilion	HP:0000219
4297	KMT2A	Stereotypy	HP:0000733
4297	KMT2A	Dysphagia	HP:0002015
4297	KMT2A	Short attention span	HP:0000736
4297	KMT2A	Intellectual disability	HP:0001249
4297	KMT2A	Narrow palpebral fissure	HP:0045025
4297	KMT2A	Elbow dislocation	HP:0003042
4297	KMT2A	Microcornea	HP:0000482
4297	KMT2A	Short stature	HP:0004322
4297	KMT2A	Seizures	HP:0001250
4297	KMT2A	Anxiety	HP:0000739
4297	KMT2A	Constipation	HP:0002019
4297	KMT2A	Muscular hypotonia	HP:0001252
4297	KMT2A	Gastroesophageal reflux	HP:0002020
4297	KMT2A	Failure to thrive	HP:0001508
4297	KMT2A	Dilatation of renal calices	HP:0100581
4297	KMT2A	Pyloric stenosis	HP:0002021
4297	KMT2A	Strabismus	HP:0000486
4297	KMT2A	Intrauterine growth retardation	HP:0001511
4297	KMT2A	Low frustration tolerance	HP:0000744
4297	KMT2A	Thin vermilion border	HP:0000233
4297	KMT2A	Toe syndactyly	HP:0001770
4297	KMT2A	Short foot	HP:0001773
4297	KMT2A	Downslanted palpebral fissures	HP:0000494
4297	KMT2A	Delayed speech and language development	HP:0000750
4297	KMT2A	Global developmental delay	HP:0001263
4297	KMT2A	Hyperactivity	HP:0000752
4297	KMT2A	Accelerated skeletal maturation	HP:0005616
4297	KMT2A	Curly eyelashes	HP:0007665
4297	KMT2A	Blepharitis	HP:0000498
4297	KMT2A	Glaucoma	HP:0000501
4297	KMT2A	Hyperextensibility at elbow	HP:0010485
4297	KMT2A	Brachycephaly	HP:0000248
4297	KMT2A	Highly arched eyebrow	HP:0002553
4297	KMT2A	Abnormal corpus callosum morphology	HP:0001273
4297	KMT2A	Telecanthus	HP:0000506
4297	KMT2A	Hypertonia	HP:0001276
4297	KMT2A	Microcephaly	HP:0000252
4297	KMT2A	Ptosis	HP:0000508
4297	KMT2A	Hypoplastic nipples	HP:0002557
4297	KMT2A	Pectus excavatum	HP:0000767
4306	NR3C2	Feeding difficulties	HP:0011968
4306	NR3C2	Failure to thrive	HP:0001508
4306	NR3C2	Autosomal dominant inheritance	HP:0000006
4306	NR3C2	Maternal hypertension	HP:0008071
4306	NR3C2	Infantile onset	HP:0003593
4306	NR3C2	Hyperactive renin-angiotensin system	HP:0000841
4306	NR3C2	Hyperkalemia	HP:0002153
4306	NR3C2	Increased circulating renin level	HP:0000848
4306	NR3C2	Pseudohypoaldosteronism	HP:0008242
4306	NR3C2	Hyponatremia	HP:0002902
4306	NR3C2	Metabolic acidosis	HP:0001942
4306	NR3C2	Hypertension	HP:0000822
4306	NR3C2	Hypotension	HP:0002615
4306	NR3C2	Decreased circulating renin level	HP:0003351
4306	NR3C2	Dehydration	HP:0001944
4306	NR3C2	Hyperaldosteronism	HP:0000859
4306	NR3C2	Vomiting	HP:0002013
4306	NR3C2	Diarrhea	HP:0002014
4306	NR3C2	Decreased circulating aldosterone level	HP:0004319
4308	TRPM1	Abnormal electroretinogram	HP:0000512
4308	TRPM1	Myopia	HP:0000545
4308	TRPM1	Abnormality of macular pigmentation	HP:0008002
4308	TRPM1	Eczema	HP:0000964
4308	TRPM1	Strabismus	HP:0000486
4308	TRPM1	Autosomal recessive inheritance	HP:0000007
4308	TRPM1	Reduced visual acuity	HP:0007663
4308	TRPM1	Optic disc hypoplasia	HP:0007766
4308	TRPM1	Nyctalopia	HP:0000662
4308	TRPM1	Congenital stationary night blindness	HP:0007642
4308	TRPM1	High myopia	HP:0011003
4308	TRPM1	Dry skin	HP:0000958
4308	TRPM1	Nystagmus	HP:0000639
4311	MME	Pectus carinatum	HP:0000768
4311	MME	Foot dorsiflexor weakness	HP:0009027
4311	MME	Areflexia	HP:0001284
4311	MME	Autosomal dominant inheritance	HP:0000006
4311	MME	Cerebellar vermis atrophy	HP:0006855
4311	MME	Autosomal recessive inheritance	HP:0000007
4311	MME	Unsteady gait	HP:0002317
4311	MME	Rigidity	HP:0002063
4311	MME	Gait ataxia	HP:0002066
4311	MME	Peripheral axonal neuropathy	HP:0003477
4311	MME	Limb ataxia	HP:0002070
4311	MME	Progressive cerebellar ataxia	HP:0002073
4311	MME	Cogwheel rigidity	HP:0002396
4311	MME	Distal lower limb muscle weakness	HP:0009053
4311	MME	Slow progression	HP:0003677
4311	MME	Pes cavus	HP:0001761
4311	MME	Limb pain	HP:0009763
4311	MME	Sensorimotor neuropathy	HP:0007141
4311	MME	Dysarthria	HP:0001260
4311	MME	Distal amyotrophy	HP:0003693
4311	MME	Hyporeflexia	HP:0001265
4311	MME	Pain	HP:0012531
4311	MME	Distal sensory impairment	HP:0002936
4311	MME	Cerebellar atrophy	HP:0001272
4311	MME	Tremor	HP:0001337
4311	MME	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
4311	MME	Hypometric saccades	HP:0000571
4311	MME	Adult onset	HP:0003581
4311	MME	Distal upper limb muscle weakness	HP:0008959
4311	MME	Nystagmus	HP:0000639
4312	MMP1	Refractory anemia	HP:0005505
4312	MMP1	Hypoalbuminemia	HP:0003073
4312	MMP1	Loss of eyelashes	HP:0011457
4312	MMP1	Abnormal blistering of the skin	HP:0008066
4312	MMP1	Scarring alopecia of scalp	HP:0004552
4312	MMP1	Absent toenail	HP:0001802
4312	MMP1	Ectropion	HP:0000656
4312	MMP1	Progressive visual loss	HP:0000529
4312	MMP1	Squamous cell carcinoma of the skin	HP:0006739
4312	MMP1	Corneal erosion	HP:0200020
4312	MMP1	Mitten deformity	HP:0004057
4312	MMP1	Absent fingernail	HP:0001817
4312	MMP1	Abnormality of the anus	HP:0004378
4312	MMP1	Flexion contracture	HP:0001371
4312	MMP1	Pruritus	HP:0000989
4312	MMP1	Carious teeth	HP:0000670
4312	MMP1	Dysphagia	HP:0002015
4312	MMP1	Narrow mouth	HP:0000160
4312	MMP1	Milia	HP:0001056
4312	MMP1	Constipation	HP:0002019
4312	MMP1	Osteopenia	HP:0000938
4312	MMP1	Osteoporosis	HP:0000939
4312	MMP1	Dilated cardiomyopathy	HP:0001644
4312	MMP1	Dermal atrophy	HP:0004334
4312	MMP1	Chronic obstructive pulmonary disease	HP:0006510
4312	MMP1	Blepharitis	HP:0000498
4312	MMP1	Delayed puberty	HP:0000823
4312	MMP1	Ankyloglossia	HP:0010296
4312	MMP1	Esophageal stricture	HP:0002043
4313	MMP2	Autosomal recessive inheritance	HP:0000007
4313	MMP2	Proptosis	HP:0000520
4313	MMP2	Gait disturbance	HP:0001288
4313	MMP2	Infantile onset	HP:0003593
4313	MMP2	Vertebral compression fractures	HP:0002953
4313	MMP2	Hypermelanotic macule	HP:0001034
4313	MMP2	Arthralgia	HP:0002829
4313	MMP2	Thin metatarsal cortices	HP:0008078
4313	MMP2	Split hand	HP:0001171
4313	MMP2	Coarse facial features	HP:0000280
4313	MMP2	Ankylosis of feet small joints	HP:0008090
4313	MMP2	Bulbous nose	HP:0000414
4313	MMP2	Juvenile onset	HP:0003621
4313	MMP2	Antinuclear antibody positivity	HP:0003493
4313	MMP2	Osteopenia	HP:0000938
4313	MMP2	Osteoporosis	HP:0000939
4313	MMP2	Finger swelling	HP:0025131
4313	MMP2	Delayed eruption of teeth	HP:0000684
4313	MMP2	Camptodactyly of toe	HP:0001836
4313	MMP2	Thickened skin	HP:0001072
4313	MMP2	Hypertelorism	HP:0000316
4313	MMP2	Narrow nasal bridge	HP:0000446
4313	MMP2	Kyphoscoliosis	HP:0002751
4313	MMP2	Metatarsal osteolysis	HP:0001473
4313	MMP2	Sclerotic cranial sutures	HP:0005441
4313	MMP2	Ankle contracture	HP:0006466
4313	MMP2	Interphalangeal joint contracture of finger	HP:0001220
4313	MMP2	Delayed closure of the anterior fontanelle	HP:0001476
4313	MMP2	Distal tapering of metatarsals	HP:0008133
4313	MMP2	Thin metacarpal cortices	HP:0006086
4313	MMP2	Hypoplasia of the maxilla	HP:0000327
4313	MMP2	Metaphyseal widening	HP:0003016
4313	MMP2	Hip contracture	HP:0003273
4313	MMP2	Subcutaneous nodule	HP:0001482
4313	MMP2	Peripheral opacification of the cornea	HP:0008011
4313	MMP2	Gingival overgrowth	HP:0000212
4313	MMP2	Abnormality of the ear	HP:0000598
4313	MMP2	Wrist flexion contracture	HP:0001239
4313	MMP2	Frontal bossing	HP:0002007
4313	MMP2	Carpal osteolysis	HP:0001495
4313	MMP2	Osteolysis involving tarsal bones	HP:0006234
4313	MMP2	Micrognathia	HP:0000347
4313	MMP2	Metacarpal osteolysis	HP:0001504
4313	MMP2	Pes cavus	HP:0001761
4313	MMP2	Short stature	HP:0004322
4313	MMP2	Pes planus	HP:0001763
4313	MMP2	Protrusio acetabuli	HP:0003179
4313	MMP2	Interphalangeal joint erosions	HP:0006252
4313	MMP2	Hirsutism	HP:0001007
4313	MMP2	Broad metatarsal	HP:0001783
4313	MMP2	Brachycephaly	HP:0000248
4313	MMP2	C1-C2 subluxation	HP:0003320
4313	MMP2	Widened metacarpal shaft	HP:0006012
4313	MMP2	Abnormality of the thorax	HP:0000765
4318	MMP9	Metaphyseal irregularity	HP:0003025
4318	MMP9	Short femoral neck	HP:0100864
4318	MMP9	Short stature	HP:0004322
4318	MMP9	Bowing of the legs	HP:0002979
4318	MMP9	Aplasia/Hypoplasia of the radius	HP:0006501
4318	MMP9	Autosomal recessive inheritance	HP:0000007
4318	MMP9	Abnormality of ulnar metaphysis	HP:0004039
4318	MMP9	Bowing of the long bones	HP:0006487
4318	MMP9	Metaphyseal widening	HP:0003016
4318	MMP9	Abnormality of epiphysis morphology	HP:0005930
4318	MMP9	Joint stiffness	HP:0001387
4318	MMP9	Abnormality of the lower limb	HP:0002814
4322	MMP13	Autosomal dominant inheritance	HP:0000006
4322	MMP13	Osteoarthritis	HP:0002758
4322	MMP13	Flared metaphysis	HP:0003015
4322	MMP13	Autosomal recessive inheritance	HP:0000007
4322	MMP13	Abnormality of ulnar metaphysis	HP:0004039
4322	MMP13	Metaphyseal widening	HP:0003016
4322	MMP13	Gait disturbance	HP:0001288
4322	MMP13	Rhizomelia	HP:0008905
4322	MMP13	Progressive leg bowing	HP:0006409
4322	MMP13	Flared, irregular rib ends	HP:0006603
4322	MMP13	Metaphyseal cupping	HP:0003021
4322	MMP13	Waddling gait	HP:0002515
4322	MMP13	Pear-shaped vertebrae	HP:0004566
4322	MMP13	Ulnar bowing	HP:0003031
4322	MMP13	Bowing of the long bones	HP:0006487
4322	MMP13	Small epiphyses	HP:0010585
4322	MMP13	Genu varum	HP:0002970
4322	MMP13	Scoliosis	HP:0002650
4322	MMP13	Spondyloepimetaphyseal dysplasia	HP:0002651
4322	MMP13	Irregular sclerotic endplates	HP:0008476
4322	MMP13	Platyspondyly	HP:0000926
4322	MMP13	Carious teeth	HP:0000670
4322	MMP13	Limitation of joint mobility	HP:0001376
4322	MMP13	Limited elbow extension	HP:0001377
4322	MMP13	Short stature	HP:0004322
4322	MMP13	Femoral bowing	HP:0002980
4322	MMP13	Aplasia/Hypoplasia of the radius	HP:0006501
4322	MMP13	Tibial bowing	HP:0002982
4322	MMP13	Genu valgum	HP:0002857
4322	MMP13	Hip dysplasia	HP:0001385
4322	MMP13	Radial bowing	HP:0002986
4322	MMP13	Abnormality of the head	HP:0000234
4322	MMP13	Disproportionate short stature	HP:0003498
4322	MMP13	Abnormality of epiphysis morphology	HP:0005930
4322	MMP13	Joint stiffness	HP:0001387
4322	MMP13	Hyperlordosis	HP:0003307
4322	MMP13	Metaphyseal chondrodysplasia	HP:0005871
4322	MMP13	Abnormality of the metaphysis	HP:0000944
4322	MMP13	Short lower limbs	HP:0006385
4322	MMP13	Metaphyseal sclerosis	HP:0004979
4322	MMP13	Flared iliac wings	HP:0002869
4322	MMP13	Motor delay	HP:0001270
4322	MMP13	Coxa vara	HP:0002812
4322	MMP13	Reduced bone mineral density	HP:0004349
4322	MMP13	Delayed skeletal maturation	HP:0002750
4322	MMP13	Abnormality of the lower limb	HP:0002814
4322	MMP13	Flattened epiphysis	HP:0003071
4323	MMP14	Arthropathy	HP:0003040
4323	MMP14	Generalized osteoporosis	HP:0040160
4323	MMP14	Gingival overgrowth	HP:0000212
4323	MMP14	Corneal opacity	HP:0007957
4323	MMP14	Coarse facial features	HP:0000280
4323	MMP14	Osteolysis involving bones of the feet	HP:0009134
4323	MMP14	Osteolysis involving bones of the upper limbs	HP:0045039
4327	MMP19	Peripapillary atrophy	HP:0500087
4327	MMP19	Visual field defect	HP:0001123
4327	MMP19	Nyctalopia	HP:0000662
4327	MMP19	Autosomal dominant inheritance	HP:0000006
4327	MMP19	Reduced visual acuity	HP:0007663
4329	ALDH6A1	Depressed nasal bridge	HP:0005280
4329	ALDH6A1	Delayed myelination	HP:0012448
4329	ALDH6A1	Feeding difficulties	HP:0011968
4329	ALDH6A1	Cataract	HP:0000518
4329	ALDH6A1	Autosomal recessive inheritance	HP:0000007
4329	ALDH6A1	Generalized hypotonia	HP:0001290
4329	ALDH6A1	Downslanted palpebral fissures	HP:0000494
4329	ALDH6A1	Abnormal facial shape	HP:0001999
4329	ALDH6A1	Global developmental delay	HP:0001263
4329	ALDH6A1	Tented upper lip vermilion	HP:0010804
4329	ALDH6A1	Dystonia	HP:0001332
4329	ALDH6A1	Metabolic acidosis	HP:0001942
4329	ALDH6A1	Long philtrum	HP:0000343
4329	ALDH6A1	Frontal bossing	HP:0002007
4329	ALDH6A1	Microphthalmia	HP:0000568
4329	ALDH6A1	High palate	HP:0000218
4329	ALDH6A1	High forehead	HP:0000348
4329	ALDH6A1	Short nose	HP:0003196
4329	ALDH6A1	Microcephaly	HP:0000252
4329	ALDH6A1	Hypertelorism	HP:0000316
4329	ALDH6A1	Epicanthus	HP:0000286
4329	ALDH6A1	Bulbous nose	HP:0000414
4329	ALDH6A1	Hypoplasia of the corpus callosum	HP:0002079
4330	MN1	Incomplete penetrance	HP:0003829
4330	MN1	Autosomal dominant inheritance	HP:0000006
4330	MN1	Meningioma	HP:0002858
4330	MN1	Adult onset	HP:0003581
4337	MOCS1	Macrocephaly	HP:0000256
4337	MOCS1	Opisthotonus	HP:0002179
4337	MOCS1	Spastic tetraparesis	HP:0001285
4337	MOCS1	Ventriculomegaly	HP:0002119
4337	MOCS1	Autosomal recessive inheritance	HP:0000007
4337	MOCS1	Cerebral atrophy	HP:0002059
4337	MOCS1	Spastic tetraplegia	HP:0002510
4337	MOCS1	Reduced xanthine dehydrogenase activity	HP:0003534
4337	MOCS1	Hypouricemia	HP:0003537
4337	MOCS1	Long face	HP:0000276
4337	MOCS1	Absent urinary urothione	HP:0003606
4337	MOCS1	Long philtrum	HP:0000343
4337	MOCS1	Frontal bossing	HP:0002007
4337	MOCS1	Peripheral demyelination	HP:0011096
4337	MOCS1	Myoclonic spasms	HP:0003739
4337	MOCS1	Progressive	HP:0003676
4337	MOCS1	Increased urinary taurine	HP:0003166
4337	MOCS1	Decreased urinary urate	HP:0011935
4337	MOCS1	Hypoplasia of the corpus callosum	HP:0002079
4337	MOCS1	Decreased urinary sulfate	HP:0003359
4337	MOCS1	Intellectual disability	HP:0001249
4337	MOCS1	Seizures	HP:0001250
4337	MOCS1	Xanthine nephrolithiasis	HP:0000804
4337	MOCS1	Full cheeks	HP:0000293
4337	MOCS1	Increased urinary sulfite	HP:0011942
4337	MOCS1	Growth delay	HP:0001510
4337	MOCS1	Increased urinary hypoxanthine	HP:0011814
4337	MOCS1	Increased urinary thiosulfate	HP:0011943
4337	MOCS1	Feeding difficulties in infancy	HP:0008872
4337	MOCS1	Molybdenum cofactor deficiency	HP:0003570
4337	MOCS1	Lens luxation	HP:0012019
4337	MOCS1	Aldehyde oxidase deficiency	HP:0002932
4337	MOCS1	Xanthinuria	HP:0010934
4337	MOCS1	Thick vermilion border	HP:0012471
4337	MOCS1	Axonal loss	HP:0003447
4337	MOCS1	Sulfite oxidase deficiency	HP:0003643
4337	MOCS1	Gliosis	HP:0002171
4337	MOCS1	Microcephaly	HP:0000252
4337	MOCS1	Short nose	HP:0003196
4337	MOCS1	Hypertelorism	HP:0000316
4337	MOCS1	Nystagmus	HP:0000639
4338	MOCS2	Macrocephaly	HP:0000256
4338	MOCS2	Feeding difficulties	HP:0011968
4338	MOCS2	Opisthotonus	HP:0002179
4338	MOCS2	Ventriculomegaly	HP:0002119
4338	MOCS2	Autosomal recessive inheritance	HP:0000007
4338	MOCS2	Cerebral atrophy	HP:0002059
4338	MOCS2	Spastic tetraplegia	HP:0002510
4338	MOCS2	Hypouricemia	HP:0003537
4338	MOCS2	Long face	HP:0000276
4338	MOCS2	Long philtrum	HP:0000343
4338	MOCS2	Frontal bossing	HP:0002007
4338	MOCS2	Peripheral demyelination	HP:0011096
4338	MOCS2	Myoclonic spasms	HP:0003739
4338	MOCS2	Progressive	HP:0003676
4338	MOCS2	Increased urinary taurine	HP:0003166
4338	MOCS2	Hypoplasia of the corpus callosum	HP:0002079
4338	MOCS2	Seizures	HP:0001250
4338	MOCS2	Xanthine nephrolithiasis	HP:0000804
4338	MOCS2	Full cheeks	HP:0000293
4338	MOCS2	Growth delay	HP:0001510
4338	MOCS2	Increased urinary hypoxanthine	HP:0011814
4338	MOCS2	Molybdenum cofactor deficiency	HP:0003570
4338	MOCS2	Lens luxation	HP:0012019
4338	MOCS2	Xanthinuria	HP:0010934
4338	MOCS2	Axonal loss	HP:0003447
4338	MOCS2	Thick vermilion border	HP:0012471
4338	MOCS2	Gliosis	HP:0002171
4338	MOCS2	Ectopia lentis	HP:0001083
4338	MOCS2	Hypertelorism	HP:0000316
4338	MOCS2	Short nose	HP:0003196
4338	MOCS2	Microcephaly	HP:0000252
4338	MOCS2	Nystagmus	HP:0000639
4340	MOG	Hallucinations	HP:0000738
4340	MOG	Narcolepsy	HP:0030050
4340	MOG	Transient global amnesia	HP:0010534
4340	MOG	Slurred speech	HP:0001350
4340	MOG	Autosomal dominant inheritance	HP:0000006
4340	MOG	Abnormality of vision	HP:0000504
4340	MOG	Obesity	HP:0001513
4340	MOG	Cataplexy	HP:0002524
4340	MOG	Excessive daytime sleepiness	HP:0002189
4340	MOG	Abnormal rapid eye movement sleep	HP:0002494
4340	MOG	Syncope	HP:0001279
4351	MPI	Hepatomegaly	HP:0002240
4351	MPI	Hypoalbuminemia	HP:0003073
4351	MPI	Lymphangiectasis	HP:0031842
4351	MPI	Protein-losing enteropathy	HP:0002243
4351	MPI	Muscular hypotonia	HP:0001252
4351	MPI	Abnormal bleeding	HP:0001892
4351	MPI	Failure to thrive	HP:0001508
4351	MPI	Autosomal recessive inheritance	HP:0000007
4351	MPI	Malabsorption	HP:0002024
4351	MPI	Reduced factor XI activity	HP:0001929
4351	MPI	Generalized hypotonia	HP:0001290
4351	MPI	Lymphedema	HP:0001004
4351	MPI	Villous atrophy	HP:0011473
4351	MPI	Cirrhosis	HP:0001394
4351	MPI	Hepatic fibrosis	HP:0001395
4351	MPI	Congenital hepatic fibrosis	HP:0002612
4351	MPI	Hepatic failure	HP:0001399
4351	MPI	Hypoglycemia	HP:0001943
4351	MPI	Reduced antithrombin III activity	HP:0001976
4351	MPI	Abnormal thrombosis	HP:0001977
4351	MPI	Hyperinsulinemic hypoglycemia	HP:0000825
4351	MPI	Type I transferrin isoform profile	HP:0003642
4351	MPI	Vomiting	HP:0002013
4351	MPI	Diarrhea	HP:0002014
405753	DUOXA2	Intellectual disability	HP:0001249
405753	DUOXA2	Umbilical hernia	HP:0001537
405753	DUOXA2	Short stature	HP:0004322
405753	DUOXA2	Constipation	HP:0002019
405753	DUOXA2	Muscular hypotonia	HP:0001252
405753	DUOXA2	Growth delay	HP:0001510
405753	DUOXA2	Abdominal distention	HP:0003270
405753	DUOXA2	Autosomal recessive inheritance	HP:0000007
405753	DUOXA2	Large fontanelles	HP:0000239
405753	DUOXA2	Global developmental delay	HP:0001263
405753	DUOXA2	Abnormality of metabolism/homeostasis	HP:0001939
405753	DUOXA2	Hypersomnia	HP:0100786
405753	DUOXA2	Hypothyroidism	HP:0000821
405753	DUOXA2	Goiter	HP:0000853
405753	DUOXA2	Coarse facial features	HP:0000280
405753	DUOXA2	Jaundice	HP:0000952
405753	DUOXA2	Fatigue	HP:0012378
405753	DUOXA2	Macroglossia	HP:0000158
4352	MPL	Portal hypertension	HP:0001409
4352	MPL	Chronic myelogenous leukemia	HP:0005506
4352	MPL	Autosomal dominant inheritance	HP:0000006
4352	MPL	Abnormal cardiac septum morphology	HP:0001671
4352	MPL	Autosomal recessive inheritance	HP:0000007
4352	MPL	Increased megakaryocyte count	HP:0005513
4352	MPL	Headache	HP:0002315
4352	MPL	Chest pain	HP:0100749
4352	MPL	Arthralgia	HP:0002829
4352	MPL	Vertigo	HP:0002321
4352	MPL	Angina pectoris	HP:0001681
4352	MPL	Stroke	HP:0001297
4352	MPL	Somatic mutation	HP:0001428
4352	MPL	Spontaneous abortion	HP:0005268
4352	MPL	Transient ischemic attack	HP:0002326
4352	MPL	Coarse facial features	HP:0000280
4352	MPL	Fever	HP:0001945
4352	MPL	Pulmonary embolism	HP:0002204
4352	MPL	Weight loss	HP:0001824
4352	MPL	Portal vein thrombosis	HP:0030242
4352	MPL	Epistaxis	HP:0000421
4352	MPL	Cerebellar vermis hypoplasia	HP:0001320
4352	MPL	Myeloproliferative disorder	HP:0005547
4352	MPL	Megakaryocytopenia	HP:0005548
4352	MPL	Pulmonary arterial hypertension	HP:0002092
4352	MPL	Respiratory insufficiency	HP:0002093
4352	MPL	Myelodysplasia	HP:0002863
4352	MPL	Hypertension	HP:0000822
4352	MPL	Acute leukemia	HP:0002488
4352	MPL	Gastrointestinal hemorrhage	HP:0002239
4352	MPL	Hepatomegaly	HP:0002240
4352	MPL	Intermittent claudication	HP:0004417
4352	MPL	Prolonged bleeding time	HP:0003010
4352	MPL	Arterial thrombosis	HP:0004420
4352	MPL	Myelofibrosis	HP:0011974
4352	MPL	Venous thrombosis	HP:0004936
4352	MPL	Acute myeloid leukemia	HP:0004808
4352	MPL	Paresthesia	HP:0003401
4352	MPL	Hyperhidrosis	HP:0000975
4352	MPL	Budd-Chiari syndrome	HP:0002639
4352	MPL	Splenomegaly	HP:0001744
4352	MPL	Thrombocytopenia	HP:0001873
4352	MPL	Bruising susceptibility	HP:0000978
4352	MPL	Purpura	HP:0000979
4352	MPL	Pallor	HP:0000980
4352	MPL	Pancytopenia	HP:0001876
4352	MPL	Short neck	HP:0000470
4352	MPL	Peripheral arterial stenosis	HP:0004950
4352	MPL	Scoliosis	HP:0002650
4352	MPL	Fatigue	HP:0012378
4352	MPL	Pruritus	HP:0000989
4352	MPL	Amaurosis fugax	HP:0100576
4352	MPL	Gingival bleeding	HP:0000225
4352	MPL	Short stature	HP:0004322
4352	MPL	Seizures	HP:0001250
4352	MPL	Abnormal platelet morphology	HP:0011875
4352	MPL	Melanocytic nevus	HP:0000995
4352	MPL	Visual field defect	HP:0001123
4352	MPL	Abnormal bleeding	HP:0001892
4352	MPL	Thrombocytosis	HP:0001894
4352	MPL	Tinnitus	HP:0000360
4352	MPL	Decreased skull ossification	HP:0004331
4352	MPL	Abdominal pain	HP:0002027
4352	MPL	Dysarthria	HP:0001260
4352	MPL	Anemia	HP:0001903
4352	MPL	Abnormal form of the vertebral bodies	HP:0003312
4352	MPL	Myocardial infarction	HP:0001658
4352	MPL	Amegakaryocytic thrombocytopenia	HP:0004859
4352	MPL	Abnormal hemoglobin	HP:0011902
4352	MPL	Syncope	HP:0001279
4353	MPO	Abnormality of metabolism/homeostasis	HP:0001939
4353	MPO	Autosomal recessive inheritance	HP:0000007
4353	MPO	Abnormality of the immune system	HP:0002715
4353	MPO	Abnormality of blood and blood-forming tissues	HP:0001871
4358	MPV17	Hepatomegaly	HP:0002240
4358	MPV17	Areflexia	HP:0001284
4358	MPV17	Microvesicular hepatic steatosis	HP:0001414
4358	MPV17	Autosomal recessive inheritance	HP:0000007
4358	MPV17	Infantile onset	HP:0003593
4358	MPV17	Generalized hypotonia	HP:0001290
4358	MPV17	Osteomyelitis leading to amputation due to slow healing fractures	HP:0005010
4358	MPV17	Hypoglycemia	HP:0001943
4358	MPV17	Acute hepatic failure	HP:0006554
4358	MPV17	Abnormality of the immune system	HP:0002715
4358	MPV17	Progressive	HP:0003676
4358	MPV17	Distal muscle weakness	HP:0002460
4358	MPV17	Vomiting	HP:0002013
4358	MPV17	Diarrhea	HP:0002014
4358	MPV17	Elevated hepatic transaminase	HP:0002910
4358	MPV17	Short stature	HP:0004322
4358	MPV17	Ataxia	HP:0001251
4358	MPV17	Increased susceptibility to fractures	HP:0002659
4358	MPV17	Failure to thrive	HP:0001508
4358	MPV17	Painless fractures due to injury	HP:0002661
4358	MPV17	Sensorimotor neuropathy	HP:0007141
4358	MPV17	Acral ulceration	HP:0006121
4358	MPV17	Pain insensitivity	HP:0007021
4358	MPV17	Global developmental delay	HP:0001263
4358	MPV17	Recurrent corneal erosions	HP:0000495
4358	MPV17	Hyporeflexia	HP:0001265
4358	MPV17	Cirrhosis	HP:0001394
4358	MPV17	Prolonged neonatal jaundice	HP:0006579
4358	MPV17	Dystonia	HP:0001332
4358	MPV17	Decreased number of peripheral myelinated nerve fibers	HP:0003380
4358	MPV17	Reye syndrome-like episodes	HP:0006582
4358	MPV17	Lactic acidosis	HP:0003128
4358	MPV17	Macrovesicular hepatic steatosis	HP:0001403
4358	MPV17	Nystagmus	HP:0000639
4359	MPZ	Skeletal muscle hypertrophy	HP:0003712
4359	MPZ	Skeletal muscle atrophy	HP:0003202
4359	MPZ	Insidious onset	HP:0003587
4359	MPZ	Areflexia	HP:0001284
4359	MPZ	Autosomal dominant inheritance	HP:0000006
4359	MPZ	Autosomal recessive inheritance	HP:0000007
4359	MPZ	Gait disturbance	HP:0001288
4359	MPZ	Infantile onset	HP:0003593
4359	MPZ	Generalized hypotonia	HP:0001290
4359	MPZ	Peripheral dysmyelination	HP:0003469
4359	MPZ	Heterogeneous	HP:0001425
4359	MPZ	Sensory impairment	HP:0003474
4359	MPZ	Gait ataxia	HP:0002066
4359	MPZ	Split hand	HP:0001171
4359	MPZ	Peripheral axonal neuropathy	HP:0003477
4359	MPZ	Sensorineural hearing impairment	HP:0000407
4359	MPZ	Progressive sensorineural hearing impairment	HP:0000408
4359	MPZ	Segmental peripheral demyelination/remyelination	HP:0003481
4359	MPZ	Ulnar claw	HP:0001178
4359	MPZ	Abnormality of the immune system	HP:0002715
4359	MPZ	Upper limb muscle weakness	HP:0003484
4359	MPZ	Distal muscle weakness	HP:0002460
4359	MPZ	Elevated serum creatine kinase	HP:0003236
4359	MPZ	Juvenile onset	HP:0003621
4359	MPZ	Abnormality of the respiratory system	HP:0002086
4359	MPZ	Tonic pupil	HP:0012074
4359	MPZ	Muscle weakness	HP:0001324
4359	MPZ	Severe muscular hypotonia	HP:0006829
4359	MPZ	Steppage gait	HP:0003376
4359	MPZ	Axonal degeneration/regeneration	HP:0003378
4359	MPZ	Decreased number of peripheral myelinated nerve fibers	HP:0003380
4359	MPZ	Hypertrophic nerve changes	HP:0003382
4359	MPZ	Onion bulb formation	HP:0003383
4359	MPZ	Upper limb postural tremor	HP:0007351
4359	MPZ	Kyphoscoliosis	HP:0002751
4359	MPZ	Delayed ability to walk	HP:0031936
4359	MPZ	Foot dorsiflexor weakness	HP:0009027
4359	MPZ	Hypokinesia	HP:0002375
4359	MPZ	Peripheral demyelination	HP:0011096
4359	MPZ	Scoliosis	HP:0002650
4359	MPZ	Slow progression	HP:0003677
4359	MPZ	Abnormality of the eye	HP:0000478
4359	MPZ	Dysphagia	HP:0002015
4359	MPZ	Pes cavus	HP:0001761
4359	MPZ	Muscular hypotonia	HP:0001252
4359	MPZ	Hammertoe	HP:0001765
4359	MPZ	Peripheral neuropathy	HP:0009830
4359	MPZ	Decreased motor nerve conduction velocity	HP:0003431
4359	MPZ	Abnormal pupil morphology	HP:0000615
4359	MPZ	Increased CSF protein	HP:0002922
4359	MPZ	Limb muscle weakness	HP:0003690
4359	MPZ	Inability to walk	HP:0002540
4359	MPZ	Distal amyotrophy	HP:0003693
4359	MPZ	Hearing impairment	HP:0000365
4359	MPZ	Myelin outfoldings	HP:0004336
4359	MPZ	Hyporeflexia	HP:0001265
4359	MPZ	Variable expressivity	HP:0003828
4359	MPZ	Poor head control	HP:0002421
4359	MPZ	Motor delay	HP:0001270
4359	MPZ	Sensory ataxia	HP:0010871
4359	MPZ	Distal sensory impairment	HP:0002936
4359	MPZ	Cold-induced muscle cramps	HP:0003449
4359	MPZ	Decreased nerve conduction velocity	HP:0000762
4359	MPZ	Nystagmus	HP:0000639
4361	MRE11	Gaze-evoked nystagmus	HP:0000640
4361	MRE11	Dysmetric saccades	HP:0000641
4361	MRE11	Slow saccadic eye movements	HP:0000514
4361	MRE11	Drooling	HP:0002307
4361	MRE11	Ovarian neoplasm	HP:0100615
4361	MRE11	Orofacial dyskinesia	HP:0002310
4361	MRE11	Autosomal recessive inheritance	HP:0000007
4361	MRE11	Generalized hypotonia	HP:0001290
4361	MRE11	Lower limb spasticity	HP:0002061
4361	MRE11	Oculomotor apraxia	HP:0000657
4361	MRE11	Hyperactive deep tendon reflexes	HP:0006801
4361	MRE11	Gait ataxia	HP:0002066
4361	MRE11	Abnormality of the fallopian tube	HP:0011027
4361	MRE11	Dilated fourth ventricle	HP:0002198
4361	MRE11	Chorea	HP:0002072
4361	MRE11	Dysdiadochokinesis	HP:0002075
4361	MRE11	Dysmetria	HP:0001310
4361	MRE11	Intention tremor	HP:0002080
4361	MRE11	Cerebellar vermis hypoplasia	HP:0001320
4361	MRE11	Mask-like facies	HP:0000298
4361	MRE11	Melanoma	HP:0002861
4361	MRE11	Hypergonadotropic hypogonadism	HP:0000815
4361	MRE11	Vertical nystagmus	HP:0010544
4361	MRE11	Dystonia	HP:0001332
4361	MRE11	Frequent falls	HP:0002359
4361	MRE11	Myoclonus	HP:0001336
4361	MRE11	Breast carcinoma	HP:0003002
4361	MRE11	Hypometric saccades	HP:0000571
4361	MRE11	Primary peritoneal carcinoma	HP:0030406
4361	MRE11	Small posterior fossa	HP:0040010
4361	MRE11	Neoplasm of the pancreas	HP:0002894
4361	MRE11	Enlarged interhemispheric fissure	HP:0100953
4361	MRE11	Progressive	HP:0003676
4361	MRE11	Impaired smooth pursuit	HP:0007772
4361	MRE11	Prostate cancer	HP:0012125
4361	MRE11	Pes cavus	HP:0001761
4361	MRE11	Short stature	HP:0004322
4361	MRE11	Sensorimotor neuropathy	HP:0007141
4361	MRE11	Abnormality of ocular smooth pursuit	HP:0000617
4361	MRE11	Dysarthria	HP:0001260
4361	MRE11	Joint laxity	HP:0001388
4361	MRE11	Distal amyotrophy	HP:0003693
4361	MRE11	Delayed speech and language development	HP:0000750
4361	MRE11	Absent Achilles reflex	HP:0003438
4361	MRE11	Hyporeflexia	HP:0001265
4361	MRE11	Telangiectasia	HP:0001009
4361	MRE11	Variable expressivity	HP:0003828
4361	MRE11	Cerebellar atrophy	HP:0001272
4361	MRE11	Increased sensitivity to ionizing radiation	HP:0011133
28952	CCDC22	Macrocephaly	HP:0000256
28952	CCDC22	Preauricular skin tag	HP:0000384
28952	CCDC22	Brachydactyly	HP:0001156
28952	CCDC22	Clinodactyly	HP:0030084
28952	CCDC22	Intestinal malrotation	HP:0002566
28952	CCDC22	Syndactyly	HP:0001159
28952	CCDC22	Optic atrophy	HP:0000648
28952	CCDC22	Hand polydactyly	HP:0001161
28952	CCDC22	Generalized hypotonia	HP:0001290
28952	CCDC22	X-linked recessive inheritance	HP:0001419
28952	CCDC22	Hypoplastic fingernail	HP:0001804
28952	CCDC22	Prominent occiput	HP:0000269
28952	CCDC22	High, narrow palate	HP:0002705
28952	CCDC22	Inguinal hernia	HP:0000023
28952	CCDC22	Dandy-Walker malformation	HP:0001305
28952	CCDC22	Missing ribs	HP:0000921
28952	CCDC22	Short distal phalanx of finger	HP:0009882
28952	CCDC22	Cryptorchidism	HP:0000028
28952	CCDC22	Recurrent respiratory infections	HP:0002205
28952	CCDC22	Hypoplastic left heart	HP:0004383
28952	CCDC22	Depressed nasal bridge	HP:0005280
28952	CCDC22	Hypoplasia of penis	HP:0008736
28952	CCDC22	Poor speech	HP:0002465
28952	CCDC22	Abnormal tricuspid valve morphology	HP:0001702
28952	CCDC22	Atrioventricular canal defect	HP:0006695
28952	CCDC22	Feeding difficulties in infancy	HP:0008872
28952	CCDC22	Cerebellar hypoplasia	HP:0001321
28952	CCDC22	Single umbilical artery	HP:0001195
28952	CCDC22	Ectopic anus	HP:0004397
28952	CCDC22	Wide nasal bridge	HP:0000431
28952	CCDC22	Cleft palate	HP:0000175
28952	CCDC22	Hypospadias	HP:0000047
28952	CCDC22	Aplasia/Hypoplasia of the nipples	HP:0006709
28952	CCDC22	Overlapping toe	HP:0001845
28952	CCDC22	Chorioretinal coloboma	HP:0000567
28952	CCDC22	Protruding tongue	HP:0010808
28952	CCDC22	Hypertelorism	HP:0000316
28952	CCDC22	Aplasia/Hypoplasia of the cerebellum	HP:0007360
28952	CCDC22	Postnatal growth retardation	HP:0008897
28952	CCDC22	Short philtrum	HP:0000322
28952	CCDC22	Adrenal hypoplasia	HP:0000835
28952	CCDC22	Upslanted palpebral fissure	HP:0000582
28952	CCDC22	Broad hallux	HP:0010055
28952	CCDC22	Abnormality of the hip bone	HP:0003272
28952	CCDC22	Facial hemangioma	HP:0000329
28952	CCDC22	Broad forehead	HP:0000337
28952	CCDC22	Finger syndactyly	HP:0006101
28952	CCDC22	Short neck	HP:0000470
28952	CCDC22	Frontal bossing	HP:0002007
28952	CCDC22	Scoliosis	HP:0002650
28952	CCDC22	Micrognathia	HP:0000347
28952	CCDC22	Broad neck	HP:0000475
28952	CCDC22	Abnormality of neuronal migration	HP:0002269
28952	CCDC22	Ventricular septal defect	HP:0001629
28952	CCDC22	Atrial septal defect	HP:0001631
28952	CCDC22	Abnormal mitral valve morphology	HP:0001633
28952	CCDC22	Intellectual disability	HP:0001249
28952	CCDC22	Camptodactyly	HP:0012385
28952	CCDC22	Short stature	HP:0004322
28952	CCDC22	Tetralogy of Fallot	HP:0001636
28952	CCDC22	Muscular hypotonia	HP:0001252
28952	CCDC22	Iris coloboma	HP:0000612
28952	CCDC22	Gastroesophageal reflux	HP:0002020
28952	CCDC22	Anal atresia	HP:0002023
28952	CCDC22	Pulmonic stenosis	HP:0001642
28952	CCDC22	Abnormality of the fontanelles or cranial sutures	HP:0000235
28952	CCDC22	Patent ductus arteriosus	HP:0001643
28952	CCDC22	Downslanted palpebral fissures	HP:0000494
28952	CCDC22	Hydrocephalus	HP:0000238
28952	CCDC22	Global developmental delay	HP:0001263
28952	CCDC22	Low-set ears	HP:0000369
28952	CCDC22	Death in infancy	HP:0001522
28952	CCDC22	Aortic valve stenosis	HP:0001650
28952	CCDC22	Low posterior hairline	HP:0002162
28952	CCDC22	Glaucoma	HP:0000501
28952	CCDC22	Neurological speech impairment	HP:0002167
28952	CCDC22	Kyphosis	HP:0002808
28952	CCDC22	Hemivertebrae	HP:0002937
28952	CCDC22	Short nose	HP:0003196
28952	CCDC22	Hydronephrosis	HP:0000126
28956	LAMTOR2	Immunodeficiency	HP:0002721
28956	LAMTOR2	Short stature	HP:0004322
28956	LAMTOR2	Hypopigmentation of the skin	HP:0001010
28956	LAMTOR2	Decreased circulating total IgM	HP:0002850
28956	LAMTOR2	Partial albinism	HP:0007443
28956	LAMTOR2	Neutropenia	HP:0001875
28956	LAMTOR2	Autosomal recessive inheritance	HP:0000007
28956	LAMTOR2	Coarse facial features	HP:0000280
28956	LAMTOR2	Recurrent bronchopulmonary infections	HP:0006538
28956	LAMTOR2	Hypopigmentation of hair	HP:0005599
28960	DCPS	Narrow mouth	HP:0000160
28960	DCPS	Absent speech	HP:0001344
28960	DCPS	Brachydactyly	HP:0001156
28960	DCPS	Autosomal recessive inheritance	HP:0000007
28960	DCPS	Deeply set eye	HP:0000490
28960	DCPS	Generalized hypotonia	HP:0001290
28960	DCPS	Joint laxity	HP:0001388
28960	DCPS	Inability to walk	HP:0002540
28960	DCPS	Unsteady gait	HP:0002317
28960	DCPS	Global developmental delay	HP:0001263
28960	DCPS	Flat face	HP:0012368
28960	DCPS	Low-set ears	HP:0000369
28960	DCPS	Hypopigmentation of the skin	HP:0001010
28960	DCPS	Congenital onset	HP:0003577
28960	DCPS	Thin upper lip vermilion	HP:0000219
28960	DCPS	Microcephaly	HP:0000252
28960	DCPS	Short nose	HP:0003196
28960	DCPS	Sandal gap	HP:0001852
28962	OSTM1	Hepatomegaly	HP:0002240
28962	OSTM1	Ascites	HP:0001541
28962	OSTM1	Autosomal recessive inheritance	HP:0000007
28962	OSTM1	Flared metaphysis	HP:0003015
28962	OSTM1	Optic atrophy	HP:0000648
28962	OSTM1	Generalized hypotonia	HP:0001290
28962	OSTM1	Cerebral atrophy	HP:0002059
28962	OSTM1	Spastic tetraplegia	HP:0002510
28962	OSTM1	Thrombocytopenia	HP:0001873
28962	OSTM1	Pancytopenia	HP:0001876
28962	OSTM1	Hypocalcemia	HP:0002901
28962	OSTM1	Generalized-onset seizure	HP:0002197
28962	OSTM1	Hyperbilirubinemia	HP:0002904
28962	OSTM1	Micrognathia	HP:0000347
28962	OSTM1	Optic disc pallor	HP:0000543
28962	OSTM1	Muscular hypotonia of the trunk	HP:0008936
28962	OSTM1	Hydrocephalus	HP:0000238
28962	OSTM1	Anemia	HP:0001903
28962	OSTM1	Stillbirth	HP:0003826
28962	OSTM1	Hepatic failure	HP:0001399
28962	OSTM1	Abnormality of the coagulation cascade	HP:0003256
28962	OSTM1	Decreased osteoclast count	HP:0030328
28962	OSTM1	Clonus	HP:0002169
28962	OSTM1	Visual impairment	HP:0000505
28962	OSTM1	Extramedullary hematopoiesis	HP:0001978
28962	OSTM1	Osteopetrosis	HP:0011002
28962	OSTM1	Absence of renal corticomedullary differentiation	HP:0005564
28962	OSTM1	Microcephaly	HP:0000252
389421	LIN28B	Neoplasm of the nervous system	HP:0004375
389421	LIN28B	Elevated urinary catecholamines	HP:0011976
28976	ACAD9	EMG: myopathic abnormalities	HP:0003458
28976	ACAD9	Hyperammonemia	HP:0001987
28976	ACAD9	Cerebral edema	HP:0002181
28976	ACAD9	Microvesicular hepatic steatosis	HP:0001414
28976	ACAD9	Autosomal recessive inheritance	HP:0000007
28976	ACAD9	Generalized hypotonia	HP:0001290
28976	ACAD9	Elevated creatine kinase after exercise	HP:0008331
28976	ACAD9	Dicarboxylic aciduria	HP:0003215
28976	ACAD9	Fatigable weakness	HP:0003473
28976	ACAD9	Thrombocytopenia	HP:0001873
28976	ACAD9	Stroke	HP:0001297
28976	ACAD9	Encephalopathy	HP:0001298
28976	ACAD9	Decreased activity of mitochondrial complex I	HP:0011923
28976	ACAD9	Prolonged prothrombin time	HP:0008151
28976	ACAD9	Hypoglycemia	HP:0001943
28976	ACAD9	Acute hepatic failure	HP:0006554
28976	ACAD9	Exercise intolerance	HP:0003546
28976	ACAD9	Increased lactate dehydrogenase activity	HP:0025435
28976	ACAD9	Elevated hepatic transaminase	HP:0002910
28976	ACAD9	Decreased plasma carnitine	HP:0003234
28976	ACAD9	Congestive heart failure	HP:0001635
28976	ACAD9	Failure to thrive	HP:0001508
28976	ACAD9	Nonketotic hypoglycemia	HP:0001958
28976	ACAD9	Increased serum lactate	HP:0002151
28976	ACAD9	Hypertrophic cardiomyopathy	HP:0001639
28976	ACAD9	Dilated cardiomyopathy	HP:0001644
28976	ACAD9	Muscle weakness	HP:0001324
28976	ACAD9	Sudden cardiac death	HP:0001645
28976	ACAD9	Cerebellar hemorrhage	HP:0011695
28976	ACAD9	Elevated plasma acylcarnitine levels	HP:0045045
28976	ACAD9	Hepatic steatosis	HP:0001397
28976	ACAD9	Hepatic failure	HP:0001399
28976	ACAD9	Lactic acidosis	HP:0003128
28976	ACAD9	Generalized muscle weakness	HP:0003324
28976	ACAD9	Myalgia	HP:0003326
28981	IFT81	Relative macrocephaly	HP:0004482
28981	IFT81	Postaxial polydactyly	HP:0100259
28981	IFT81	Brachydactyly	HP:0001156
28981	IFT81	Short ribs	HP:0000773
28981	IFT81	Narrow chest	HP:0000774
28981	IFT81	Micromelia	HP:0002983
28981	IFT81	Autosomal recessive inheritance	HP:0000007
28981	IFT81	Syndactyly	HP:0001159
28981	IFT81	Hypoplasia of the radius	HP:0002984
28981	IFT81	Thoracic hypoplasia	HP:0005257
28981	IFT81	Pulmonary hypoplasia	HP:0002089
28981	IFT81	Generalized hypotonia	HP:0001290
28981	IFT81	Dolichocephaly	HP:0000268
28981	IFT81	Prominent occiput	HP:0000269
28981	IFT81	Low-set ears	HP:0000369
28981	IFT81	Hypoplastic ilia	HP:0000946
28981	IFT81	Respiratory distress	HP:0002098
28981	IFT81	Prominent forehead	HP:0011220
28981	IFT81	Long philtrum	HP:0000343
28981	IFT81	Midface retrusion	HP:0011800
28981	IFT81	Horizontal ribs	HP:0000888
28981	IFT81	Ventricular septal defect	HP:0001629
28981	IFT81	Respiratory failure	HP:0002878
28981	IFT81	Lateral clavicle hook	HP:0000895
28982	FLVCR1	Delayed ability to walk	HP:0031936
28982	FLVCR1	Joint contracture of the hand	HP:0009473
28982	FLVCR1	Ring scotoma	HP:0030529
28982	FLVCR1	Skeletal muscle atrophy	HP:0003202
28982	FLVCR1	Muscle spasm	HP:0003394
28982	FLVCR1	Osteomyelitis	HP:0002754
28982	FLVCR1	Truncal titubation	HP:0030147
28982	FLVCR1	Areflexia	HP:0001284
28982	FLVCR1	Abnormal sensory nerve conduction velocity	HP:0040132
28982	FLVCR1	Cataract	HP:0000518
28982	FLVCR1	Childhood onset	HP:0011463
28982	FLVCR1	Autosomal recessive inheritance	HP:0000007
28982	FLVCR1	Optic atrophy	HP:0000648
28982	FLVCR1	Recurrent urinary tract infections	HP:0000010
28982	FLVCR1	Generalized hypotonia	HP:0001290
28982	FLVCR1	Achalasia	HP:0002571
28982	FLVCR1	Axonal degeneration	HP:0040078
28982	FLVCR1	Delayed gross motor development	HP:0002194
28982	FLVCR1	Gait ataxia	HP:0002066
28982	FLVCR1	Gastrointestinal dysmotility	HP:0002579
28982	FLVCR1	Urinary incontinence	HP:0000020
28982	FLVCR1	Nyctalopia	HP:0000662
28982	FLVCR1	Broad-based gait	HP:0002136
28982	FLVCR1	Scoliosis	HP:0002650
28982	FLVCR1	Distal muscle weakness	HP:0002460
28982	FLVCR1	Slow progression	HP:0003677
28982	FLVCR1	Abnormality of the spinal cord	HP:0002143
28982	FLVCR1	Intellectual disability	HP:0001249
28982	FLVCR1	Camptodactyly	HP:0012385
28982	FLVCR1	Seizures	HP:0001250
28982	FLVCR1	Ataxia	HP:0001251
28982	FLVCR1	Positive Romberg sign	HP:0002403
28982	FLVCR1	Undetectable electroretinogram	HP:0000550
28982	FLVCR1	Blindness	HP:0000618
28982	FLVCR1	Bowel incontinence	HP:0002607
28982	FLVCR1	Flexion contracture of finger	HP:0012785
28982	FLVCR1	Chronic pain	HP:0012532
28982	FLVCR1	Impaired vibration sensation in the lower limbs	HP:0002166
28982	FLVCR1	Sensory ataxia	HP:0010871
28982	FLVCR1	Decreased sensory nerve conduction velocity	HP:0003448
28982	FLVCR1	Kyphosis	HP:0002808
28982	FLVCR1	Bone spicule pigmentation of the retina	HP:0007737
28982	FLVCR1	Visual loss	HP:0000572
28982	FLVCR1	Rod-cone dystrophy	HP:0000510
28982	FLVCR1	Scotoma	HP:0000575
389434	IYD	Intellectual disability	HP:0001249
389434	IYD	Umbilical hernia	HP:0001537
389434	IYD	Short stature	HP:0004322
389434	IYD	Constipation	HP:0002019
389434	IYD	Muscular hypotonia	HP:0001252
389434	IYD	Growth delay	HP:0001510
389434	IYD	Abdominal distention	HP:0003270
389434	IYD	Autosomal recessive inheritance	HP:0000007
389434	IYD	Large fontanelles	HP:0000239
389434	IYD	Global developmental delay	HP:0001263
389434	IYD	Hypersomnia	HP:0100786
389434	IYD	Hypothyroidism	HP:0000821
389434	IYD	Goiter	HP:0000853
389434	IYD	Coarse facial features	HP:0000280
389434	IYD	Jaundice	HP:0000952
389434	IYD	Fatigue	HP:0012378
389434	IYD	Macroglossia	HP:0000158
643418	LIPN	Ichthyosis	HP:0008064
643418	LIPN	Hyperkeratosis	HP:0000962
643418	LIPN	Epidermal acanthosis	HP:0025092
643418	LIPN	Chronic otitis media	HP:0000389
643418	LIPN	Lack of skin elasticity	HP:0100679
643418	LIPN	Sparse hair	HP:0008070
643418	LIPN	Sepsis	HP:0100806
643418	LIPN	Congenital ichthyosiform erythroderma	HP:0007431
643418	LIPN	Autosomal recessive inheritance	HP:0000007
643418	LIPN	Ectropion	HP:0000656
643418	LIPN	Renal insufficiency	HP:0000083
643418	LIPN	Gangrene	HP:0100758
643418	LIPN	Dehydration	HP:0001944
643418	LIPN	Hypergranulosis	HP:0025114
643418	LIPN	Pruritus	HP:0000989
643418	LIPN	Recurrent respiratory infections	HP:0002205
643418	LIPN	Abnormality of the helix	HP:0011039
643418	LIPN	Erythema	HP:0010783
643418	LIPN	Short stature	HP:0004322
643418	LIPN	Orthokeratosis	HP:0040162
643418	LIPN	Abnormality of the dentition	HP:0000164
643418	LIPN	Everted lower lip vermilion	HP:0000232
643418	LIPN	Aplasia/Hypoplasia of the eyebrow	HP:0100840
643418	LIPN	Hypotrichosis	HP:0001006
643418	LIPN	Erythroderma	HP:0001019
643418	LIPN	Abnormality of the nail	HP:0001597
643418	LIPN	Dry skin	HP:0000958
643418	LIPN	Cognitive impairment	HP:0100543
4436	MSH2	Death in early adulthood	HP:0100613
4436	MSH2	Autosomal dominant inheritance	HP:0000006
4436	MSH2	Ovarian neoplasm	HP:0100615
4436	MSH2	Neoplasm of the rectum	HP:0100743
4436	MSH2	Autosomal recessive inheritance	HP:0000007
4436	MSH2	Gait disturbance	HP:0001288
4436	MSH2	Hypermelanotic macule	HP:0001034
4436	MSH2	Carcinoma	HP:0030731
4436	MSH2	Glioblastoma multiforme	HP:0012174
4436	MSH2	Hemiplegia/hemiparesis	HP:0004374
4436	MSH2	Hematological neoplasm	HP:0004377
4436	MSH2	Agnosia	HP:0010524
4436	MSH2	Migraine	HP:0002076
4436	MSH2	Abnormality of abdomen morphology	HP:0001438
4436	MSH2	Dysgraphia	HP:0010526
4436	MSH2	Weight loss	HP:0001824
4436	MSH2	Urinary tract neoplasm	HP:0010786
4436	MSH2	Rhabdomyosarcoma	HP:0002859
4436	MSH2	Memory impairment	HP:0002354
4436	MSH2	Dyskinesia	HP:0100660
4436	MSH2	Breast carcinoma	HP:0003002
4436	MSH2	Colon cancer	HP:0003003
4436	MSH2	Cafe-au-lait spot	HP:0000957
4436	MSH2	Neuroblastoma	HP:0003006
4436	MSH2	Neoplasm of the thyroid gland	HP:0100031
4436	MSH2	Benign gastrointestinal tract tumors	HP:0006719
4436	MSH2	Gastrointestinal hemorrhage	HP:0002239
4436	MSH2	Medulloblastoma	HP:0002885
4436	MSH2	Pancreatic adenocarcinoma	HP:0006725
4436	MSH2	Ependymoma	HP:0002888
4436	MSH2	Developmental regression	HP:0002376
4436	MSH2	Paresthesia	HP:0003401
4436	MSH2	Sebaceous gland carcinoma	HP:0030410
4436	MSH2	Intestinal polyposis	HP:0200008
4436	MSH2	Depressivity	HP:0000716
4436	MSH2	Colonic diverticula	HP:0002253
4436	MSH2	Salivary gland neoplasm	HP:0100684
4436	MSH2	Pituitary adenoma	HP:0002893
4436	MSH2	Neoplasm of the liver	HP:0002896
4436	MSH2	Endometrial carcinoma	HP:0012114
4436	MSH2	Increased intracranial pressure	HP:0002516
4436	MSH2	Laryngeal carcinoma	HP:0012118
4436	MSH2	Abnormal pyramidal sign	HP:0007256
4436	MSH2	Cardiac diverticulum	HP:0100571
4436	MSH2	Fatigue	HP:0012378
4436	MSH2	Flexion contracture	HP:0001371
4436	MSH2	Neoplasm of the stomach	HP:0006753
4436	MSH2	Nausea and vomiting	HP:0002017
4436	MSH2	Irritability	HP:0000737
4436	MSH2	Amaurosis fugax	HP:0100576
4436	MSH2	Hallucinations	HP:0000738
4436	MSH2	Seizures	HP:0001250
4436	MSH2	Benign neoplasm of the central nervous system	HP:0100835
4436	MSH2	Visual field defect	HP:0001123
4436	MSH2	Anxiety	HP:0000739
4436	MSH2	Constipation	HP:0002019
4436	MSH2	Muscular hypotonia	HP:0001252
4436	MSH2	Axillary freckling	HP:0000997
4436	MSH2	Malignant genitourinary tract tumor	HP:0006758
4436	MSH2	Malabsorption	HP:0002024
4436	MSH2	Lymphoma	HP:0002665
4436	MSH2	Attention deficit hyperactivity disorder	HP:0007018
4436	MSH2	Abdominal pain	HP:0002027
4436	MSH2	Dysarthria	HP:0001260
4436	MSH2	Basal cell carcinoma	HP:0002671
4436	MSH2	Death in infancy	HP:0001522
4436	MSH2	Duodenal adenocarcinoma	HP:0006771
4436	MSH2	Leukemia	HP:0001909
4436	MSH2	Astrocytoma	HP:0009592
4436	MSH2	Adenoma sebaceum	HP:0009720
4436	MSH2	Agenesis of corpus callosum	HP:0001274
4436	MSH2	Benign genitourinary tract neoplasm	HP:0006778
4436	MSH2	Hepatocellular carcinoma	HP:0001402
4436	MSH2	Hypertonia	HP:0001276
4436	MSH2	Renal neoplasm	HP:0009726
4436	MSH2	Neoplasm of the skeletal system	HP:0010622
4437	MSH3	Uterine leiomyoma	HP:0000131
4437	MSH3	Papilloma	HP:0012740
4437	MSH3	Autosomal recessive inheritance	HP:0000007
4437	MSH3	Multiple gastric polyps	HP:0004394
4437	MSH3	Adenomatous colonic polyposis	HP:0005227
4437	MSH3	Renal cyst	HP:0000107
4437	MSH3	Juvenile gastrointestinal polyposis	HP:0004784
4437	MSH3	Endometrial carcinoma	HP:0012114
4437	MSH3	Somatic mutation	HP:0001428
4437	MSH3	Thyroid adenoma	HP:0000854
4437	MSH3	Astrocytoma	HP:0009592
4437	MSH3	Ovarian dermoid cyst	HP:0025274
4437	MSH3	Colon cancer	HP:0003003
4437	MSH3	Colorectal polyposis	HP:0200063
4437	MSH3	Stomach cancer	HP:0012126
4439	MSH5	Autosomal recessive inheritance	HP:0000007
4439	MSH5	Oligomenorrhea	HP:0000876
53616	ADAM22	Open mouth	HP:0000194
53616	ADAM22	Seizures	HP:0001250
53616	ADAM22	Epileptic encephalopathy	HP:0200134
53616	ADAM22	Thick vermilion border	HP:0012471
53616	ADAM22	Infantile onset	HP:0003593
53616	ADAM22	Spasticity	HP:0001257
53616	ADAM22	High palate	HP:0000218
53616	ADAM22	Intellectual disability, profound	HP:0002187
282996	RBM20	EMG abnormality	HP:0003457
282996	RBM20	Abnormality of neutrophils	HP:0001874
282996	RBM20	Lipoatrophy	HP:0100578
282996	RBM20	Congestive heart failure	HP:0001635
282996	RBM20	Elevated serum creatine kinase	HP:0003236
282996	RBM20	Palmoplantar keratoderma	HP:0000982
282996	RBM20	Autosomal dominant inheritance	HP:0000006
282996	RBM20	Sensorineural hearing impairment	HP:0000407
282996	RBM20	Dilated cardiomyopathy	HP:0001644
282996	RBM20	Sudden cardiac death	HP:0001645
282996	RBM20	Myopathy	HP:0003198
53630	BCO1	Autosomal dominant inheritance	HP:0000006
53630	BCO1	Abnormality of the skin	HP:0000951
53630	BCO1	Vitamin A deficiency	HP:0004905
4478	MSN	Lymphopenia	HP:0001888
4478	MSN	Neutropenia	HP:0001875
4478	MSN	Eczema	HP:0000964
4478	MSN	Decreased antibody level in blood	HP:0004313
4478	MSN	Recurrent urinary tract infections	HP:0000010
4478	MSN	X-linked recessive inheritance	HP:0001419
4478	MSN	Recurrent respiratory infections	HP:0002205
4481	MSR1	Esophageal carcinoma	HP:0011459
4481	MSR1	Somatic mutation	HP:0001428
4481	MSR1	Gastroesophageal reflux	HP:0002020
4481	MSR1	Barrett esophagus	HP:0100580
4481	MSR1	Esophageal ulceration	HP:0004791
4485	MST1	Hypoalbuminemia	HP:0003073
4485	MST1	Portal hypertension	HP:0001409
4485	MST1	Polyclonal elevation of IgM	HP:0003459
4485	MST1	Palmar telangiectasia	HP:0100869
4485	MST1	Ascites	HP:0001541
4485	MST1	Elevated alkaline phosphatase of hepatic origin	HP:0010638
4485	MST1	Autoimmunity	HP:0002960
4485	MST1	Encephalopathy	HP:0001298
4485	MST1	Chronic hepatic failure	HP:0100626
4485	MST1	Fever	HP:0001945
4485	MST1	Hepatosplenomegaly	HP:0001433
4485	MST1	Pleural effusion	HP:0002202
4485	MST1	Acute hepatic failure	HP:0006554
4485	MST1	Abnormal large intestine physiology	HP:0012700
4485	MST1	Vitamin E deficiency	HP:0100513
4485	MST1	Weight loss	HP:0001824
4485	MST1	Vitamin D deficiency	HP:0100512
4485	MST1	Thyroiditis	HP:0100646
4485	MST1	Vitamin A deficiency	HP:0004905
4485	MST1	Type I diabetes mellitus	HP:0100651
4485	MST1	Uveitis	HP:0000554
4485	MST1	Osteopenia	HP:0000938
4485	MST1	Osteoporosis	HP:0000939
4485	MST1	Celiac disease	HP:0002608
4485	MST1	Ulcerative colitis	HP:0100279
4485	MST1	Jaundice	HP:0000952
4485	MST1	Cholelithiasis	HP:0001081
4485	MST1	Hepatomegaly	HP:0002240
4485	MST1	Pancreatitis	HP:0001733
4485	MST1	Cholangiocarcinoma	HP:0030153
4485	MST1	Depressivity	HP:0000716
4485	MST1	Splenomegaly	HP:0001744
4485	MST1	Adenocarcinoma of the large intestine	HP:0040275
4485	MST1	Hepatitis	HP:0012115
4485	MST1	Renal insufficiency	HP:0000083
4485	MST1	Prolonged prothrombin time	HP:0008151
4485	MST1	Dilated superficial abdominal veins	HP:0030168
4485	MST1	Fatigue	HP:0012378
4485	MST1	Pruritus	HP:0000989
4485	MST1	Neoplasm of the gallbladder	HP:0100575
4485	MST1	Elevated hepatic transaminase	HP:0002910
4485	MST1	Congestive heart failure	HP:0001635
4485	MST1	Spider hemangioma	HP:0012522
4485	MST1	Abdominal pain	HP:0002027
4485	MST1	Cirrhosis	HP:0001394
4485	MST1	Hepatic fibrosis	HP:0001395
4485	MST1	Vitamin K deficiency	HP:0011892
4485	MST1	Generalized amyotrophy	HP:0003700
4485	MST1	Hepatocellular carcinoma	HP:0001402
4487	MSX1	Small nail	HP:0001792
4487	MSX1	Autosomal dominant inheritance	HP:0000006
4487	MSX1	Sparse hair	HP:0008070
4487	MSX1	Hypoplasia of the maxilla	HP:0000327
4487	MSX1	Hypoplastic toenails	HP:0001800
4487	MSX1	Thin toenail	HP:0012746
4487	MSX1	Nail pits	HP:0001803
4487	MSX1	Microdontia of primary teeth	HP:0006347
4487	MSX1	Hypoplastic fingernail	HP:0001804
4487	MSX1	Cleft upper lip	HP:0000204
4487	MSX1	Agenesis of permanent teeth	HP:0006349
4487	MSX1	Ridged nail	HP:0001807
4487	MSX1	Fragile nails	HP:0001808
4487	MSX1	Ridged fingernail	HP:0008402
4487	MSX1	Polycystic ovaries	HP:0000147
4487	MSX1	Micrognathia	HP:0000347
4487	MSX1	Hypodontia	HP:0000668
4487	MSX1	Fine hair	HP:0002213
4487	MSX1	Oligodontia	HP:0000677
4487	MSX1	Everted lower lip vermilion	HP:0000232
4487	MSX1	Delayed eruption of teeth	HP:0000684
4487	MSX1	Cleft palate	HP:0000175
4487	MSX1	Microdontia	HP:0000691
4487	MSX1	Conical tooth	HP:0000698
4487	MSX1	Concave nail	HP:0001598
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	Hypotelorism	HP:0000601
4488	MSX2	Aplasia cutis congenita of scalp	HP:0007385
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	Triphalangeal thumb	HP:0001199
4488	MSX2	Cleft palate	HP:0000175
4488	MSX2	Unicoronal synostosis	HP:0011315
4488	MSX2	Trigonocephaly	HP:0000243
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	Somatic mutation	HP:0001428
29071	C1GALT1C1	Abnormal erythrocyte morphology	HP:0001877
29072	SETD2	Macrocephaly	HP:0000256
29072	SETD2	Arnold-Chiari malformation	HP:0002308
29072	SETD2	Autosomal dominant inheritance	HP:0000006
29072	SETD2	Abnormal cardiac septum morphology	HP:0001671
29072	SETD2	Advanced ossification of carpal bones	HP:0004233
29072	SETD2	Generalized hypotonia	HP:0001290
29072	SETD2	Dolichocephaly	HP:0000268
29072	SETD2	Overgrowth	HP:0001548
29072	SETD2	Advanced eruption of teeth	HP:0006288
29072	SETD2	Macrotia	HP:0000400
29072	SETD2	Sacrococcygeal teratoma	HP:0030736
29072	SETD2	Malar flattening	HP:0000272
29072	SETD2	Polycystic ovaries	HP:0000147
29072	SETD2	Recurrent otitis media	HP:0000403
29072	SETD2	Long face	HP:0000276
29072	SETD2	Conductive hearing impairment	HP:0000405
29072	SETD2	Neoplasm of the nervous system	HP:0004375
29072	SETD2	Hypoglycemia	HP:0001943
29072	SETD2	Coarse facial features	HP:0000280
29072	SETD2	Genu varum	HP:0002970
29072	SETD2	Cryptorchidism	HP:0000028
29072	SETD2	Polyphagia	HP:0002591
29072	SETD2	High anterior hairline	HP:0009890
29072	SETD2	Feeding difficulties in infancy	HP:0008872
29072	SETD2	Genu valgum	HP:0002857
29072	SETD2	Long foot	HP:0001833
29072	SETD2	Mandibular prognathia	HP:0000303
29072	SETD2	Hypospadias	HP:0000047
29072	SETD2	EEG abnormality	HP:0002353
29072	SETD2	Pointed chin	HP:0000307
29072	SETD2	Precocious puberty	HP:0000826
29072	SETD2	Multiple renal cysts	HP:0005562
29072	SETD2	Hypertelorism	HP:0000316
29072	SETD2	Hyperreflexia	HP:0001347
29072	SETD2	Behavioral abnormality	HP:0000708
29072	SETD2	Syringomyelia	HP:0003396
29072	SETD2	Slurred speech	HP:0001350
29072	SETD2	Ventriculomegaly	HP:0002119
29072	SETD2	Depressed nasal ridge	HP:0000457
29072	SETD2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
29072	SETD2	Renal duplication	HP:0000075
29072	SETD2	Vesicoureteral reflux	HP:0000076
29072	SETD2	Aggressive behavior	HP:0000718
29072	SETD2	Anteverted nares	HP:0000463
29072	SETD2	Abnormal fingernail morphology	HP:0001231
29072	SETD2	Craniosynostosis	HP:0001363
29072	SETD2	Prominent forehead	HP:0011220
29072	SETD2	Frontal bossing	HP:0002007
29072	SETD2	Autistic behavior	HP:0000729
29072	SETD2	High palate	HP:0000218
29072	SETD2	Scoliosis	HP:0002650
29072	SETD2	Menstrual irregularities	HP:0000858
29072	SETD2	Micrognathia	HP:0000347
29072	SETD2	High forehead	HP:0000348
29072	SETD2	Congenital hip dislocation	HP:0001374
29072	SETD2	Intellectual disability	HP:0001249
29072	SETD2	Seizures	HP:0001250
29072	SETD2	Abnormality of immune system physiology	HP:0010978
29072	SETD2	Tall stature	HP:0000098
29072	SETD2	Short stature	HP:0004322
29072	SETD2	Anxiety	HP:0000739
29072	SETD2	Shyness	HP:0100962
29072	SETD2	Muscular hypotonia	HP:0001252
29072	SETD2	Strabismus	HP:0000486
29072	SETD2	Obesity	HP:0001513
29072	SETD2	Patent ductus arteriosus	HP:0001643
29072	SETD2	Downslanted palpebral fissures	HP:0000494
29072	SETD2	Delayed speech and language development	HP:0000750
29072	SETD2	Global developmental delay	HP:0001263
29072	SETD2	Hirsutism	HP:0001007
29072	SETD2	Accelerated skeletal maturation	HP:0005616
29072	SETD2	Long nose	HP:0003189
29078	NDUFAF4	Irritability	HP:0000737
29078	NDUFAF4	Seizures	HP:0001250
29078	NDUFAF4	Hyperreflexia	HP:0001347
29078	NDUFAF4	Failure to thrive	HP:0001508
29078	NDUFAF4	Intrauterine growth retardation	HP:0001511
29078	NDUFAF4	Neonatal onset	HP:0003623
29078	NDUFAF4	Optic atrophy	HP:0000648
29078	NDUFAF4	Generalized hypotonia	HP:0001290
29078	NDUFAF4	Spastic tetraplegia	HP:0002510
29078	NDUFAF4	Poor eye contact	HP:0000817
29078	NDUFAF4	Encephalopathy	HP:0001298
29078	NDUFAF4	Dystonia	HP:0001332
29078	NDUFAF4	Peripheral demyelination	HP:0011096
29078	NDUFAF4	Flexion contracture	HP:0001371
29078	NDUFAF4	Abnormal mitochondria in muscle tissue	HP:0008316
29078	NDUFAF4	Myopathy	HP:0003198
29078	NDUFAF4	Nystagmus	HP:0000639
4507	MTAP	Skeletal muscle atrophy	HP:0003202
4507	MTAP	Thin skin	HP:0000963
4507	MTAP	Bowing of the legs	HP:0002979
4507	MTAP	Pathologic fracture	HP:0002756
4507	MTAP	Autosomal dominant inheritance	HP:0000006
4507	MTAP	Metaphyseal striations	HP:0031367
4507	MTAP	Premature graying of hair	HP:0002216
4507	MTAP	Limb muscle weakness	HP:0003690
4507	MTAP	Osteopenia	HP:0000938
4507	MTAP	Presenile cataracts	HP:0007819
4507	MTAP	Fractures of the long bones	HP:0003084
4507	MTAP	Osteosarcoma	HP:0002669
4507	MTAP	Soft skin	HP:0000977
4507	MTAP	Osteomyelitis leading to amputation due to slow healing fractures	HP:0005010
4507	MTAP	Bruising susceptibility	HP:0000978
4507	MTAP	Proximal muscle weakness	HP:0003701
4507	MTAP	Fibrosarcoma	HP:0100244
4507	MTAP	Diaphyseal cortical sclerosis	HP:0005045
4507	MTAP	Patchy osteosclerosis	HP:0005686
4507	MTAP	Histiocytoma	HP:0012315
4507	MTAP	Progressive	HP:0003676
4507	MTAP	Limb-girdle muscle weakness	HP:0003325
4507	MTAP	Myopathy	HP:0003198
4507	MTAP	Stenosis of the medullary cavity of the long bones	HP:0100254
4508	ATP6	Horizontal pendular nystagmus	HP:0007811
4508	ATP6	Spastic tetraparesis	HP:0001285
4508	ATP6	Retinal pigment epithelial mottling	HP:0007814
4508	ATP6	Optic atrophy	HP:0000648
4508	ATP6	Undetectable light- and dark-adapted electroretinogram	HP:0007688
4508	ATP6	Leg muscle stiffness	HP:0008969
4508	ATP6	Headache	HP:0002315
4508	ATP6	Astrocytosis	HP:0002446
4508	ATP6	Basal ganglia cysts	HP:0006799
4508	ATP6	Heterogeneous	HP:0001425
4508	ATP6	Gait ataxia	HP:0002066
4508	ATP6	Mitochondrial inheritance	HP:0001427
4508	ATP6	Peripheral axonal neuropathy	HP:0003477
4508	ATP6	Small basal ganglia	HP:0012697
4508	ATP6	Mitochondrial myopathy	HP:0003737
4508	ATP6	Arrhythmia	HP:0011675
4508	ATP6	Myoclonic spasms	HP:0003739
4508	ATP6	Upper limb muscle weakness	HP:0003484
4508	ATP6	Babinski sign	HP:0003487
4508	ATP6	Optic disc pallor	HP:0000543
4508	ATP6	Abnormal cerebellum morphology	HP:0001317
4508	ATP6	Retinal vascular tortuosity	HP:0012841
4508	ATP6	Lower limb muscle weakness	HP:0007340
4508	ATP6	Loss of ability to walk	HP:0006957
4508	ATP6	Diabetes mellitus	HP:0000819
4508	ATP6	Difficulty walking	HP:0002355
4508	ATP6	Dystonia	HP:0001332
4508	ATP6	Frequent falls	HP:0002359
4508	ATP6	Myoclonus	HP:0001336
4508	ATP6	Visual loss	HP:0000572
4508	ATP6	Mitochondrial respiratory chain defects	HP:0200125
4508	ATP6	Centrocecal scotoma	HP:0000576
4508	ATP6	Muscle spasm	HP:0003394
4508	ATP6	Hyperreflexia	HP:0001347
4508	ATP6	Ventriculomegaly	HP:0002119
4508	ATP6	Developmental regression	HP:0002376
4508	ATP6	Cerebral cortical atrophy	HP:0002120
4508	ATP6	Progressive gait ataxia	HP:0007240
4508	ATP6	Corticospinal tract atrophy	HP:0007117
4508	ATP6	Atrophy/Degeneration involving the caudate nucleus	HP:0007374
4508	ATP6	Abnormal basal ganglia MRI signal intensity	HP:0012751
4508	ATP6	Retinal telangiectasia	HP:0007763
4508	ATP6	Ventricular preexcitation	HP:0004309
4508	ATP6	Dementia	HP:0000726
4508	ATP6	Basal ganglia gliosis	HP:0006999
4508	ATP6	Central retinal vessel vascular tortuosity	HP:0007768
4508	ATP6	Leber optic atrophy	HP:0001112
4508	ATP6	Central scotoma	HP:0000603
4508	ATP6	Cogwheel rigidity	HP:0002396
4508	ATP6	Distal lower limb muscle weakness	HP:0009053
4508	ATP6	Dysphagia	HP:0002015
4508	ATP6	Tetraparesis	HP:0002273
4508	ATP6	Irritability	HP:0000737
4508	ATP6	Short stature	HP:0004322
4508	ATP6	Seizures	HP:0001250
4508	ATP6	Lower limb pain	HP:0012514
4508	ATP6	Ataxia	HP:0001251
4508	ATP6	Gastroesophageal reflux	HP:0002020
4508	ATP6	Failure to thrive	HP:0001508
4508	ATP6	Peripheral neuropathy	HP:0009830
4508	ATP6	Cardiomyopathy	HP:0001638
4508	ATP6	Intellectual disability, mild	HP:0001256
4508	ATP6	Retinopathy	HP:0000488
4508	ATP6	Blindness	HP:0000618
4508	ATP6	Dysarthria	HP:0001260
4508	ATP6	Progressive spastic paraplegia	HP:0007020
4508	ATP6	Constriction of peripheral visual field	HP:0001133
4508	ATP6	Hearing impairment	HP:0000365
4508	ATP6	Blurred vision	HP:0000622
4508	ATP6	Delayed speech and language development	HP:0000750
4508	ATP6	Global developmental delay	HP:0001263
4508	ATP6	Retinal arteriolar tortuosity	HP:0001136
4508	ATP6	Intellectual disability, severe	HP:0010864
4508	ATP6	Optic neuropathy	HP:0001138
4508	ATP6	Choreoathetosis	HP:0001266
4508	ATP6	Infantile muscular hypotonia	HP:0008947
4508	ATP6	Slow decrease in visual acuity	HP:0007924
4508	ATP6	Incomplete penetrance	HP:0003829
4508	ATP6	Proximal muscle weakness	HP:0003701
4508	ATP6	Impaired vibration sensation in the lower limbs	HP:0002166
4508	ATP6	Polyneuropathy	HP:0001271
4508	ATP6	Sensory neuropathy	HP:0000763
4508	ATP6	Supraventricular arrhythmia	HP:0005115
4508	ATP6	Abnormal visual field test	HP:0030588
4508	ATP6	Myopathy	HP:0003198
4508	ATP6	Postural tremor	HP:0002174
4508	ATP6	Rod-cone dystrophy	HP:0000510
4508	ATP6	Nystagmus	HP:0000639
4509	ATP8	Ragged-red muscle fibers	HP:0003200
4509	ATP8	EMG abnormality	HP:0003457
4509	ATP8	Skeletal muscle atrophy	HP:0003202
4509	ATP8	Reduced tendon reflexes	HP:0001315
4509	ATP8	Ataxia	HP:0001251
4509	ATP8	Muscular hypotonia	HP:0001252
4509	ATP8	Third degree atrioventricular block	HP:0001709
4509	ATP8	Hearing impairment	HP:0000365
4509	ATP8	Progressive intervertebral space narrowing	HP:0004622
4509	ATP8	Progressive external ophthalmoplegia	HP:0000590
4509	ATP8	Hemiplegia/hemiparesis	HP:0004374
4509	ATP8	Abnormality of retinal pigmentation	HP:0007703
4509	ATP8	Anterior hypopituitarism	HP:0000830
4509	ATP8	Delayed skeletal maturation	HP:0002750
4511	TRNC	Ragged-red muscle fibers	HP:0003200
4511	TRNC	Developmental cataract	HP:0000519
4511	TRNC	Episodic vomiting	HP:0002572
4511	TRNC	Encephalopathy	HP:0001298
4511	TRNC	Mitochondrial inheritance	HP:0001427
4511	TRNC	Generalized tonic-clonic seizures	HP:0002069
4511	TRNC	Dementia	HP:0000726
4511	TRNC	Progressive sensorineural hearing impairment	HP:0000408
4511	TRNC	Mitochondrial myopathy	HP:0003737
4511	TRNC	Hemianopia	HP:0012377
4511	TRNC	Ophthalmoplegia	HP:0000602
4511	TRNC	Migraine	HP:0002076
4511	TRNC	Stroke-like episode	HP:0002401
4511	TRNC	Cerebral visual impairment	HP:0100704
4511	TRNC	Growth abnormality	HP:0001507
4511	TRNC	Congestive heart failure	HP:0001635
4511	TRNC	Left ventricular dysfunction	HP:0005162
4511	TRNC	Bilateral sensorineural hearing impairment	HP:0008619
4511	TRNC	Left ventricular hypertrophy	HP:0001712
4511	TRNC	Diabetes mellitus	HP:0000819
4511	TRNC	Wolff-Parkinson-White syndrome	HP:0001716
4511	TRNC	Variable expressivity	HP:0003828
4511	TRNC	Hemiparesis	HP:0001269
4511	TRNC	Hypertension	HP:0000822
4511	TRNC	Lactic acidosis	HP:0003128
4511	TRNC	Myopathy	HP:0003198
4512	COX1	Death in early adulthood	HP:0100613
4512	COX1	Cataract	HP:0000518
4512	COX1	Developmental cataract	HP:0000519
4512	COX1	Episodic vomiting	HP:0002572
4512	COX1	Primary adrenal insufficiency	HP:0008207
4512	COX1	Encephalopathy	HP:0001298
4512	COX1	Gastroparesis	HP:0002578
4512	COX1	Reduced consciousness/confusion	HP:0004372
4512	COX1	Generalized tonic-clonic seizures	HP:0002069
4512	COX1	Abnormality of retinal pigmentation	HP:0007703
4512	COX1	Migraine	HP:0002076
4512	COX1	Hypopigmented skin patches	HP:0001053
4512	COX1	Reduced tendon reflexes	HP:0001315
4512	COX1	Thyroiditis	HP:0100646
4512	COX1	Retinal vascular tortuosity	HP:0012841
4512	COX1	Left ventricular dysfunction	HP:0005162
4512	COX1	Type I diabetes mellitus	HP:0100651
4512	COX1	Mask-like facies	HP:0000298
4512	COX1	Pulmonary arterial hypertension	HP:0002092
4512	COX1	Muscle weakness	HP:0001324
4512	COX1	Respiratory insufficiency	HP:0002093
4512	COX1	EEG abnormality	HP:0002353
4512	COX1	Memory impairment	HP:0002354
4512	COX1	Diabetes mellitus	HP:0000819
4512	COX1	Dystonia	HP:0001332
4512	COX1	Hypothyroidism	HP:0000821
4512	COX1	Hypertension	HP:0000822
4512	COX1	Delayed puberty	HP:0000823
4512	COX1	Lactic acidosis	HP:0003128
4512	COX1	Apnea	HP:0002104
4512	COX1	Tremor	HP:0001337
4512	COX1	Hypertelorism	HP:0000316
4512	COX1	Hypoparathyroidism	HP:0000829
4512	COX1	Anterior hypopituitarism	HP:0000830
4512	COX1	Centrocecal scotoma	HP:0000576
4512	COX1	Hyperthyroidism	HP:0000836
4512	COX1	Ventriculomegaly	HP:0002119
4512	COX1	Developmental regression	HP:0002376
4512	COX1	Cerebral cortical atrophy	HP:0002120
4512	COX1	Paresthesia	HP:0003401
4512	COX1	Aphasia	HP:0002381
4512	COX1	Cerebral ischemia	HP:0002637
4512	COX1	Aortic aneurysm	HP:0004942
4512	COX1	Abnormal macular morphology	HP:0001103
4512	COX1	Retinal telangiectasia	HP:0007763
4512	COX1	Renal insufficiency	HP:0000083
4512	COX1	Ophthalmoparesis	HP:0000597
4512	COX1	Goiter	HP:0000853
4512	COX1	Aortic dissection	HP:0002647
4512	COX1	Hemianopia	HP:0012377
4512	COX1	Ophthalmoplegia	HP:0000602
4512	COX1	Type II diabetes mellitus	HP:0005978
4512	COX1	Fatigue	HP:0012378
4512	COX1	Central scotoma	HP:0000603
4512	COX1	Proteinuria	HP:0000093
4512	COX1	Intestinal obstruction	HP:0005214
4512	COX1	Stroke-like episode	HP:0002401
4512	COX1	Cerebral visual impairment	HP:0100704
4512	COX1	Congestive heart failure	HP:0001635
4512	COX1	Nephrotic syndrome	HP:0000100
4512	COX1	Peripheral neuropathy	HP:0009830
4512	COX1	Hypercalciuria	HP:0002150
4512	COX1	Hypertrophic cardiomyopathy	HP:0001639
4512	COX1	Increased serum lactate	HP:0002151
4512	COX1	Attention deficit hyperactivity disorder	HP:0007018
4512	COX1	Sudden cardiac death	HP:0001645
4512	COX1	Blurred vision	HP:0000622
4512	COX1	Clonus	HP:0002169
4512	COX1	Myopathy	HP:0003198
4512	COX1	Postural tremor	HP:0002174
4512	COX1	Ragged-red muscle fibers	HP:0003200
4512	COX1	Ichthyosis	HP:0008064
4512	COX1	EMG abnormality	HP:0003457
4512	COX1	Skeletal muscle atrophy	HP:0003202
4512	COX1	Optic atrophy	HP:0000648
4512	COX1	Abnormality of visual evoked potentials	HP:0000649
4512	COX1	Mitochondrial inheritance	HP:0001427
4512	COX1	Nyctalopia	HP:0000662
4512	COX1	Sensorineural hearing impairment	HP:0000407
4512	COX1	Progressive sensorineural hearing impairment	HP:0000408
4512	COX1	Mitochondrial myopathy	HP:0003737
4512	COX1	Fever	HP:0001945
4512	COX1	Protruding ear	HP:0000411
4512	COX1	Pulmonary embolism	HP:0002204
4512	COX1	Carious teeth	HP:0000670
4512	COX1	Elevated serum creatine kinase	HP:0003236
4512	COX1	Feeding difficulties in infancy	HP:0008872
4512	COX1	Bilateral sensorineural hearing impairment	HP:0008619
4512	COX1	Left ventricular hypertrophy	HP:0001712
4512	COX1	Tubulointerstitial abnormality	HP:0001969
4512	COX1	Heart block	HP:0012722
4512	COX1	Wolff-Parkinson-White syndrome	HP:0001716
4512	COX1	Generalized hirsutism	HP:0002230
4512	COX1	Mitochondrial respiratory chain defects	HP:0200125
4512	COX1	Delayed skeletal maturation	HP:0002750
4512	COX1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4512	COX1	Pancreatitis	HP:0001733
4512	COX1	Depressivity	HP:0000716
4512	COX1	Autism	HP:0000717
4512	COX1	Cerebral calcification	HP:0002514
4512	COX1	Gingival overgrowth	HP:0000212
4512	COX1	Ventricular preexcitation	HP:0004309
4512	COX1	Glomerulopathy	HP:0100820
4512	COX1	Psychotic episodes	HP:0000725
4512	COX1	Dementia	HP:0000726
4512	COX1	Abnormality of mitochondrial metabolism	HP:0003287
4512	COX1	Abnormality of neuronal migration	HP:0002269
4512	COX1	Amaurosis fugax	HP:0100576
4512	COX1	Nausea and vomiting	HP:0002017
4512	COX1	Short stature	HP:0004322
4512	COX1	Hallucinations	HP:0000738
4512	COX1	Growth abnormality	HP:0001507
4512	COX1	Ataxia	HP:0001251
4512	COX1	Constipation	HP:0002019
4512	COX1	Anxiety	HP:0000739
4512	COX1	Muscular hypotonia	HP:0001252
4512	COX1	Cachexia	HP:0004326
4512	COX1	Malabsorption	HP:0002024
4512	COX1	Abdominal pain	HP:0002027
4512	COX1	Dysarthria	HP:0001260
4512	COX1	Variable expressivity	HP:0003828
4512	COX1	Slow decrease in visual acuity	HP:0007924
4512	COX1	Arthrogryposis multiplex congenita	HP:0002804
4512	COX1	Multiple lipomas	HP:0001012
4512	COX1	Hemiparesis	HP:0001269
4512	COX1	Anorexia	HP:0002039
4512	COX1	Decreased nerve conduction velocity	HP:0000762
4512	COX1	Spontaneous hematomas	HP:0007420
4512	COX1	Microcephaly	HP:0000252
4512	COX1	Ptosis	HP:0000508
4512	COX1	Myalgia	HP:0003326
4513	COX2	Death in early adulthood	HP:0100613
4513	COX2	Cataract	HP:0000518
4513	COX2	Developmental cataract	HP:0000519
4513	COX2	Episodic vomiting	HP:0002572
4513	COX2	Primary adrenal insufficiency	HP:0008207
4513	COX2	Encephalopathy	HP:0001298
4513	COX2	Gastroparesis	HP:0002578
4513	COX2	Reduced consciousness/confusion	HP:0004372
4513	COX2	Generalized tonic-clonic seizures	HP:0002069
4513	COX2	Abnormality of retinal pigmentation	HP:0007703
4513	COX2	Migraine	HP:0002076
4513	COX2	Hypopigmented skin patches	HP:0001053
4513	COX2	Reduced tendon reflexes	HP:0001315
4513	COX2	Thyroiditis	HP:0100646
4513	COX2	Left ventricular dysfunction	HP:0005162
4513	COX2	Type I diabetes mellitus	HP:0100651
4513	COX2	Mask-like facies	HP:0000298
4513	COX2	Pulmonary arterial hypertension	HP:0002092
4513	COX2	Muscle weakness	HP:0001324
4513	COX2	Respiratory insufficiency	HP:0002093
4513	COX2	EEG abnormality	HP:0002353
4513	COX2	Memory impairment	HP:0002354
4513	COX2	Diabetes mellitus	HP:0000819
4513	COX2	Dystonia	HP:0001332
4513	COX2	Hypothyroidism	HP:0000821
4513	COX2	Hypertension	HP:0000822
4513	COX2	Delayed puberty	HP:0000823
4513	COX2	Lactic acidosis	HP:0003128
4513	COX2	Apnea	HP:0002104
4513	COX2	Tremor	HP:0001337
4513	COX2	Hypertelorism	HP:0000316
4513	COX2	Hypoparathyroidism	HP:0000829
4513	COX2	Anterior hypopituitarism	HP:0000830
4513	COX2	Hyperthyroidism	HP:0000836
4513	COX2	Ventriculomegaly	HP:0002119
4513	COX2	Developmental regression	HP:0002376
4513	COX2	Cerebral cortical atrophy	HP:0002120
4513	COX2	Paresthesia	HP:0003401
4513	COX2	Aphasia	HP:0002381
4513	COX2	Cerebral ischemia	HP:0002637
4513	COX2	Aortic aneurysm	HP:0004942
4513	COX2	Abnormal macular morphology	HP:0001103
4513	COX2	Renal insufficiency	HP:0000083
4513	COX2	Ophthalmoparesis	HP:0000597
4513	COX2	Goiter	HP:0000853
4513	COX2	Aortic dissection	HP:0002647
4513	COX2	Hemianopia	HP:0012377
4513	COX2	Ophthalmoplegia	HP:0000602
4513	COX2	Type II diabetes mellitus	HP:0005978
4513	COX2	Fatigue	HP:0012378
4513	COX2	Proteinuria	HP:0000093
4513	COX2	Intestinal obstruction	HP:0005214
4513	COX2	Stroke-like episode	HP:0002401
4513	COX2	Cerebral visual impairment	HP:0100704
4513	COX2	Congestive heart failure	HP:0001635
4513	COX2	Nephrotic syndrome	HP:0000100
4513	COX2	Hypercalciuria	HP:0002150
4513	COX2	Hypertrophic cardiomyopathy	HP:0001639
4513	COX2	Increased serum lactate	HP:0002151
4513	COX2	Attention deficit hyperactivity disorder	HP:0007018
4513	COX2	Sudden cardiac death	HP:0001645
4513	COX2	Clonus	HP:0002169
4513	COX2	Myopathy	HP:0003198
4513	COX2	Ragged-red muscle fibers	HP:0003200
4513	COX2	Ichthyosis	HP:0008064
4513	COX2	EMG abnormality	HP:0003457
4513	COX2	Skeletal muscle atrophy	HP:0003202
4513	COX2	Optic atrophy	HP:0000648
4513	COX2	Abnormality of visual evoked potentials	HP:0000649
4513	COX2	Mitochondrial inheritance	HP:0001427
4513	COX2	Nyctalopia	HP:0000662
4513	COX2	Sensorineural hearing impairment	HP:0000407
4513	COX2	Progressive sensorineural hearing impairment	HP:0000408
4513	COX2	Mitochondrial myopathy	HP:0003737
4513	COX2	Fever	HP:0001945
4513	COX2	Protruding ear	HP:0000411
4513	COX2	Pulmonary embolism	HP:0002204
4513	COX2	Carious teeth	HP:0000670
4513	COX2	Elevated serum creatine kinase	HP:0003236
4513	COX2	Feeding difficulties in infancy	HP:0008872
4513	COX2	Bilateral sensorineural hearing impairment	HP:0008619
4513	COX2	Left ventricular hypertrophy	HP:0001712
4513	COX2	Tubulointerstitial abnormality	HP:0001969
4513	COX2	Heart block	HP:0012722
4513	COX2	Wolff-Parkinson-White syndrome	HP:0001716
4513	COX2	Generalized hirsutism	HP:0002230
4513	COX2	Delayed skeletal maturation	HP:0002750
4513	COX2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4513	COX2	Pancreatitis	HP:0001733
4513	COX2	Depressivity	HP:0000716
4513	COX2	Autism	HP:0000717
4513	COX2	Cerebral calcification	HP:0002514
4513	COX2	Gingival overgrowth	HP:0000212
4513	COX2	Glomerulopathy	HP:0100820
4513	COX2	Psychotic episodes	HP:0000725
4513	COX2	Dementia	HP:0000726
4513	COX2	Abnormality of mitochondrial metabolism	HP:0003287
4513	COX2	Abnormality of neuronal migration	HP:0002269
4513	COX2	Amaurosis fugax	HP:0100576
4513	COX2	Nausea and vomiting	HP:0002017
4513	COX2	Short stature	HP:0004322
4513	COX2	Hallucinations	HP:0000738
4513	COX2	Growth abnormality	HP:0001507
4513	COX2	Constipation	HP:0002019
4513	COX2	Anxiety	HP:0000739
4513	COX2	Ataxia	HP:0001251
4513	COX2	Muscular hypotonia	HP:0001252
4513	COX2	Cachexia	HP:0004326
4513	COX2	Malabsorption	HP:0002024
4513	COX2	Abdominal pain	HP:0002027
4513	COX2	Dysarthria	HP:0001260
4513	COX2	Variable expressivity	HP:0003828
4513	COX2	Arthrogryposis multiplex congenita	HP:0002804
4513	COX2	Multiple lipomas	HP:0001012
4513	COX2	Hemiparesis	HP:0001269
4513	COX2	Anorexia	HP:0002039
4513	COX2	Decreased nerve conduction velocity	HP:0000762
4513	COX2	Spontaneous hematomas	HP:0007420
4513	COX2	Microcephaly	HP:0000252
4513	COX2	Ptosis	HP:0000508
4513	COX2	Myalgia	HP:0003326
29089	UBE2T	Umbilical hernia	HP:0001537
29089	UBE2T	Duodenal stenosis	HP:0100867
29089	UBE2T	Cataract	HP:0000518
29089	UBE2T	Autosomal recessive inheritance	HP:0000007
29089	UBE2T	Hypogonadism	HP:0000135
29089	UBE2T	Abnormality of femur morphology	HP:0002823
29089	UBE2T	Proptosis	HP:0000520
29089	UBE2T	Decreased fertility in males	HP:0012041
29089	UBE2T	Recurrent urinary tract infections	HP:0000010
29089	UBE2T	Hip dislocation	HP:0002827
29089	UBE2T	Dolichocephaly	HP:0000268
29089	UBE2T	Multiple cafe-au-lait spots	HP:0007565
29089	UBE2T	Tracheoesophageal fistula	HP:0002575
29089	UBE2T	Abnormal aortic morphology	HP:0001679
29089	UBE2T	Pyridoxine-responsive sideroblastic anemia	HP:0005522
29089	UBE2T	Abnormality of chromosome stability	HP:0003220
29089	UBE2T	Bone marrow hypocellularity	HP:0005528
29089	UBE2T	Clubbing of toes	HP:0100760
29089	UBE2T	Oligohydramnios	HP:0001562
29089	UBE2T	Azoospermia	HP:0000027
29089	UBE2T	Cryptorchidism	HP:0000028
29089	UBE2T	Hypopigmented skin patches	HP:0001053
29089	UBE2T	Epicanthus	HP:0000286
29089	UBE2T	Weight loss	HP:0001824
29089	UBE2T	Cranial nerve paralysis	HP:0006824
29089	UBE2T	Bicornuate uterus	HP:0000813
29089	UBE2T	Myelodysplasia	HP:0002863
29089	UBE2T	Cleft palate	HP:0000175
29089	UBE2T	Triphalangeal thumb	HP:0001199
29089	UBE2T	Hypospadias	HP:0000047
29089	UBE2T	Short thumb	HP:0009778
29089	UBE2T	Aplasia/Hypoplasia of the uvula	HP:0010293
29089	UBE2T	Microphthalmia	HP:0000568
29089	UBE2T	Arteriovenous malformation	HP:0100026
29089	UBE2T	Hypertelorism	HP:0000316
29089	UBE2T	Abnormal localization of kidney	HP:0100542
29089	UBE2T	Almond-shaped palpebral fissure	HP:0007874
29089	UBE2T	Hyperreflexia	HP:0001347
29089	UBE2T	Facial asymmetry	HP:0000324
29089	UBE2T	Meckel diverticulum	HP:0002245
29089	UBE2T	Choanal atresia	HP:0000453
29089	UBE2T	Upslanted palpebral fissure	HP:0000582
29089	UBE2T	Ventriculomegaly	HP:0002119
29089	UBE2T	Hydroureter	HP:0000072
29089	UBE2T	Short palpebral fissure	HP:0012745
29089	UBE2T	Aganglionic megacolon	HP:0002251
29089	UBE2T	Hypoplasia of the ulna	HP:0003022
29089	UBE2T	Thrombocytopenia	HP:0001873
29089	UBE2T	Renal insufficiency	HP:0000083
29089	UBE2T	Pancytopenia	HP:0001876
29089	UBE2T	Sloping forehead	HP:0000340
29089	UBE2T	Finger syndactyly	HP:0006101
29089	UBE2T	Duplication of thumb phalanx	HP:0009942
29089	UBE2T	Frontal bossing	HP:0002007
29089	UBE2T	Scoliosis	HP:0002650
29089	UBE2T	Leukopenia	HP:0001882
29089	UBE2T	High palate	HP:0000218
29089	UBE2T	Micrognathia	HP:0000347
29089	UBE2T	Atrial septal defect	HP:0001631
29089	UBE2T	Abnormal carotid artery morphology	HP:0005344
29089	UBE2T	Abnormality of the hypothalamus-pituitary axis	HP:0000864
29089	UBE2T	Intellectual disability	HP:0001249
29089	UBE2T	Short stature	HP:0004322
29089	UBE2T	Pes planus	HP:0001763
29089	UBE2T	Astigmatism	HP:0000483
29089	UBE2T	Tetralogy of Fallot	HP:0001636
29089	UBE2T	Absent testis	HP:0010469
29089	UBE2T	Aplasia/Hypoplasia of the radius	HP:0006501
29089	UBE2T	Renal hypoplasia/aplasia	HP:0008678
29089	UBE2T	Strabismus	HP:0000486
29089	UBE2T	Anal atresia	HP:0002023
29089	UBE2T	Intrauterine growth retardation	HP:0001511
29089	UBE2T	Hypertrophic cardiomyopathy	HP:0001639
29089	UBE2T	Irregular hyperpigmentation	HP:0007400
29089	UBE2T	Toe syndactyly	HP:0001770
29089	UBE2T	Abnormality of the preputium	HP:0100587
29089	UBE2T	Patent ductus arteriosus	HP:0001643
29089	UBE2T	Hearing impairment	HP:0000365
29089	UBE2T	Abnormal aortic valve morphology	HP:0001646
29089	UBE2T	Spina bifida	HP:0002414
29089	UBE2T	Hydrocephalus	HP:0000238
29089	UBE2T	Anemia	HP:0001903
29089	UBE2T	Global developmental delay	HP:0001263
29089	UBE2T	Abnormality of the liver	HP:0001392
29089	UBE2T	Clinodactyly of the 5th finger	HP:0004209
29089	UBE2T	Aplasia/Hypoplasia of the iris	HP:0008053
29089	UBE2T	Visual impairment	HP:0000505
29089	UBE2T	Aplasia/Hypoplasia of fingers	HP:0006265
29089	UBE2T	Microcephaly	HP:0000252
29089	UBE2T	Ptosis	HP:0000508
29089	UBE2T	External ear malformation	HP:0008572
29089	UBE2T	Reduced bone mineral density	HP:0004349
29089	UBE2T	Nystagmus	HP:0000639
4514	COX3	Death in early adulthood	HP:0100613
4514	COX3	Cataract	HP:0000518
4514	COX3	Developmental cataract	HP:0000519
4514	COX3	Episodic vomiting	HP:0002572
4514	COX3	Primary adrenal insufficiency	HP:0008207
4514	COX3	Encephalopathy	HP:0001298
4514	COX3	Gastroparesis	HP:0002578
4514	COX3	Reduced consciousness/confusion	HP:0004372
4514	COX3	Generalized tonic-clonic seizures	HP:0002069
4514	COX3	Abnormality of retinal pigmentation	HP:0007703
4514	COX3	Migraine	HP:0002076
4514	COX3	Hypopigmented skin patches	HP:0001053
4514	COX3	Reduced tendon reflexes	HP:0001315
4514	COX3	Thyroiditis	HP:0100646
4514	COX3	Retinal vascular tortuosity	HP:0012841
4514	COX3	Left ventricular dysfunction	HP:0005162
4514	COX3	Type I diabetes mellitus	HP:0100651
4514	COX3	Mask-like facies	HP:0000298
4514	COX3	Pulmonary arterial hypertension	HP:0002092
4514	COX3	Muscle weakness	HP:0001324
4514	COX3	Respiratory insufficiency	HP:0002093
4514	COX3	EEG abnormality	HP:0002353
4514	COX3	Memory impairment	HP:0002354
4514	COX3	Diabetes mellitus	HP:0000819
4514	COX3	Dystonia	HP:0001332
4514	COX3	Hypothyroidism	HP:0000821
4514	COX3	Hypertension	HP:0000822
4514	COX3	Delayed puberty	HP:0000823
4514	COX3	Lactic acidosis	HP:0003128
4514	COX3	Apnea	HP:0002104
4514	COX3	Tremor	HP:0001337
4514	COX3	Visual loss	HP:0000572
4514	COX3	Hypertelorism	HP:0000316
4514	COX3	Hypoparathyroidism	HP:0000829
4514	COX3	Anterior hypopituitarism	HP:0000830
4514	COX3	Centrocecal scotoma	HP:0000576
4514	COX3	Hyperthyroidism	HP:0000836
4514	COX3	Ventriculomegaly	HP:0002119
4514	COX3	Developmental regression	HP:0002376
4514	COX3	Cerebral cortical atrophy	HP:0002120
4514	COX3	Paresthesia	HP:0003401
4514	COX3	Aphasia	HP:0002381
4514	COX3	Cerebral ischemia	HP:0002637
4514	COX3	Aortic aneurysm	HP:0004942
4514	COX3	Abnormal macular morphology	HP:0001103
4514	COX3	Retinal telangiectasia	HP:0007763
4514	COX3	Renal insufficiency	HP:0000083
4514	COX3	Ophthalmoparesis	HP:0000597
4514	COX3	Goiter	HP:0000853
4514	COX3	Aortic dissection	HP:0002647
4514	COX3	Central retinal vessel vascular tortuosity	HP:0007768
4514	COX3	Leber optic atrophy	HP:0001112
4514	COX3	Hemianopia	HP:0012377
4514	COX3	Ophthalmoplegia	HP:0000602
4514	COX3	Type II diabetes mellitus	HP:0005978
4514	COX3	Fatigue	HP:0012378
4514	COX3	Central scotoma	HP:0000603
4514	COX3	Proteinuria	HP:0000093
4514	COX3	Intestinal obstruction	HP:0005214
4514	COX3	Stroke-like episode	HP:0002401
4514	COX3	Cerebral visual impairment	HP:0100704
4514	COX3	Congestive heart failure	HP:0001635
4514	COX3	Nephrotic syndrome	HP:0000100
4514	COX3	Peripheral neuropathy	HP:0009830
4514	COX3	Hypercalciuria	HP:0002150
4514	COX3	Hypertrophic cardiomyopathy	HP:0001639
4514	COX3	Increased serum lactate	HP:0002151
4514	COX3	Attention deficit hyperactivity disorder	HP:0007018
4514	COX3	Sudden cardiac death	HP:0001645
4514	COX3	Blurred vision	HP:0000622
4514	COX3	Optic neuropathy	HP:0001138
4514	COX3	Clonus	HP:0002169
4514	COX3	Myopathy	HP:0003198
4514	COX3	Postural tremor	HP:0002174
4514	COX3	Ragged-red muscle fibers	HP:0003200
4514	COX3	Ichthyosis	HP:0008064
4514	COX3	EMG abnormality	HP:0003457
4514	COX3	Skeletal muscle atrophy	HP:0003202
4514	COX3	Optic atrophy	HP:0000648
4514	COX3	Abnormality of visual evoked potentials	HP:0000649
4514	COX3	Heterogeneous	HP:0001425
4514	COX3	Mitochondrial inheritance	HP:0001427
4514	COX3	Nyctalopia	HP:0000662
4514	COX3	Sensorineural hearing impairment	HP:0000407
4514	COX3	Progressive sensorineural hearing impairment	HP:0000408
4514	COX3	Mitochondrial myopathy	HP:0003737
4514	COX3	Fever	HP:0001945
4514	COX3	Arrhythmia	HP:0011675
4514	COX3	Protruding ear	HP:0000411
4514	COX3	Pulmonary embolism	HP:0002204
4514	COX3	Carious teeth	HP:0000670
4514	COX3	Elevated serum creatine kinase	HP:0003236
4514	COX3	Feeding difficulties in infancy	HP:0008872
4514	COX3	Bilateral sensorineural hearing impairment	HP:0008619
4514	COX3	Left ventricular hypertrophy	HP:0001712
4514	COX3	Tubulointerstitial abnormality	HP:0001969
4514	COX3	Heart block	HP:0012722
4514	COX3	Wolff-Parkinson-White syndrome	HP:0001716
4514	COX3	Generalized hirsutism	HP:0002230
4514	COX3	Mitochondrial respiratory chain defects	HP:0200125
4514	COX3	Delayed skeletal maturation	HP:0002750
4514	COX3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4514	COX3	Pancreatitis	HP:0001733
4514	COX3	Depressivity	HP:0000716
4514	COX3	Autism	HP:0000717
4514	COX3	Cerebral calcification	HP:0002514
4514	COX3	Gingival overgrowth	HP:0000212
4514	COX3	Ventricular preexcitation	HP:0004309
4514	COX3	Glomerulopathy	HP:0100820
4514	COX3	Psychotic episodes	HP:0000725
4514	COX3	Dementia	HP:0000726
4514	COX3	Abnormality of mitochondrial metabolism	HP:0003287
4514	COX3	Abnormality of neuronal migration	HP:0002269
4514	COX3	Amaurosis fugax	HP:0100576
4514	COX3	Nausea and vomiting	HP:0002017
4514	COX3	Short stature	HP:0004322
4514	COX3	Hallucinations	HP:0000738
4514	COX3	Ataxia	HP:0001251
4514	COX3	Growth abnormality	HP:0001507
4514	COX3	Constipation	HP:0002019
4514	COX3	Anxiety	HP:0000739
4514	COX3	Muscular hypotonia	HP:0001252
4514	COX3	Cachexia	HP:0004326
4514	COX3	Malabsorption	HP:0002024
4514	COX3	Abdominal pain	HP:0002027
4514	COX3	Dysarthria	HP:0001260
4514	COX3	Variable expressivity	HP:0003828
4514	COX3	Slow decrease in visual acuity	HP:0007924
4514	COX3	Arthrogryposis multiplex congenita	HP:0002804
4514	COX3	Multiple lipomas	HP:0001012
4514	COX3	Incomplete penetrance	HP:0003829
4514	COX3	Hemiparesis	HP:0001269
4514	COX3	Polyneuropathy	HP:0001271
4514	COX3	Anorexia	HP:0002039
4514	COX3	Decreased nerve conduction velocity	HP:0000762
4514	COX3	Spontaneous hematomas	HP:0007420
4514	COX3	Microcephaly	HP:0000252
4514	COX3	Ptosis	HP:0000508
4514	COX3	Myalgia	HP:0003326
4519	CYTB	Centrocecal scotoma	HP:0000576
4519	CYTB	Ragged-red muscle fibers	HP:0003200
4519	CYTB	Developmental cataract	HP:0000519
4519	CYTB	Optic atrophy	HP:0000648
4519	CYTB	Episodic vomiting	HP:0002572
4519	CYTB	Heterogeneous	HP:0001425
4519	CYTB	Encephalopathy	HP:0001298
4519	CYTB	Mitochondrial inheritance	HP:0001427
4519	CYTB	Retinal telangiectasia	HP:0007763
4519	CYTB	Generalized tonic-clonic seizures	HP:0002069
4519	CYTB	Ventricular preexcitation	HP:0004309
4519	CYTB	Dementia	HP:0000726
4519	CYTB	Central retinal vessel vascular tortuosity	HP:0007768
4519	CYTB	Leber optic atrophy	HP:0001112
4519	CYTB	Progressive sensorineural hearing impairment	HP:0000408
4519	CYTB	Mitochondrial myopathy	HP:0003737
4519	CYTB	Hemianopia	HP:0012377
4519	CYTB	Ophthalmoplegia	HP:0000602
4519	CYTB	Arrhythmia	HP:0011675
4519	CYTB	Central scotoma	HP:0000603
4519	CYTB	Migraine	HP:0002076
4519	CYTB	Stroke-like episode	HP:0002401
4519	CYTB	Cerebral visual impairment	HP:0100704
4519	CYTB	Ataxia	HP:0001251
4519	CYTB	Growth abnormality	HP:0001507
4519	CYTB	Congestive heart failure	HP:0001635
4519	CYTB	Peripheral neuropathy	HP:0009830
4519	CYTB	Retinal vascular tortuosity	HP:0012841
4519	CYTB	Left ventricular dysfunction	HP:0005162
4519	CYTB	Bilateral sensorineural hearing impairment	HP:0008619
4519	CYTB	Blurred vision	HP:0000622
4519	CYTB	Left ventricular hypertrophy	HP:0001712
4519	CYTB	Optic neuropathy	HP:0001138
4519	CYTB	Diabetes mellitus	HP:0000819
4519	CYTB	Dystonia	HP:0001332
4519	CYTB	Wolff-Parkinson-White syndrome	HP:0001716
4519	CYTB	Variable expressivity	HP:0003828
4519	CYTB	Slow decrease in visual acuity	HP:0007924
4519	CYTB	Incomplete penetrance	HP:0003829
4519	CYTB	Hemiparesis	HP:0001269
4519	CYTB	Hypertension	HP:0000822
4519	CYTB	Polyneuropathy	HP:0001271
4519	CYTB	Lactic acidosis	HP:0003128
4519	CYTB	Visual loss	HP:0000572
4519	CYTB	Myopathy	HP:0003198
4519	CYTB	Postural tremor	HP:0002174
4519	CYTB	Mitochondrial respiratory chain defects	HP:0200125
790955	UQCC3	Feeding difficulties	HP:0011968
790955	UQCC3	Growth delay	HP:0001510
790955	UQCC3	Increased serum lactate	HP:0002151
790955	UQCC3	Hypoglycemia	HP:0001943
790955	UQCC3	Autosomal recessive inheritance	HP:0000007
790955	UQCC3	Lactic acidosis	HP:0003128
790955	UQCC3	Congenital onset	HP:0003577
790955	UQCC3	Generalized hypotonia	HP:0001290
790955	UQCC3	Global developmental delay	HP:0001263
389549	FEZF1	Dyspareunia	HP:0030016
389549	FEZF1	Ichthyosis	HP:0008064
389549	FEZF1	Gynecomastia	HP:0000771
389549	FEZF1	Recurrent fractures	HP:0002757
389549	FEZF1	Autosomal dominant inheritance	HP:0000006
389549	FEZF1	Autosomal recessive inheritance	HP:0000007
389549	FEZF1	Hypogonadism	HP:0000135
389549	FEZF1	Gait disturbance	HP:0001288
389549	FEZF1	Abnormality of the voice	HP:0001608
389549	FEZF1	Anosmia	HP:0000458
389549	FEZF1	Reduced number of teeth	HP:0009804
389549	FEZF1	Decreased fertility	HP:0000144
389549	FEZF1	Primary amenorrhea	HP:0000786
389549	FEZF1	Infertility	HP:0000789
389549	FEZF1	Sensorineural hearing impairment	HP:0000407
389549	FEZF1	Abnormality of cardiovascular system morphology	HP:0030680
389549	FEZF1	Cryptorchidism	HP:0000028
389549	FEZF1	Skeletal dysplasia	HP:0002652
389549	FEZF1	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
389549	FEZF1	Decreased testicular size	HP:0008734
389549	FEZF1	Erectile abnormalities	HP:0100639
389549	FEZF1	Pes cavus	HP:0001761
389549	FEZF1	Seizures	HP:0001250
389549	FEZF1	Ataxia	HP:0001251
389549	FEZF1	Pes planus	HP:0001763
389549	FEZF1	Muscular hypotonia	HP:0001252
389549	FEZF1	Sparse axillary hair	HP:0002215
389549	FEZF1	Color vision defect	HP:0000551
389549	FEZF1	Renal agenesis	HP:0000104
389549	FEZF1	Obesity	HP:0001513
389549	FEZF1	Hypogonadotrophic hypogonadism	HP:0000044
389549	FEZF1	Dysarthria	HP:0001260
389549	FEZF1	Muscle weakness	HP:0001324
389549	FEZF1	Cleft palate	HP:0000175
389549	FEZF1	Sparse pubic hair	HP:0002225
389549	FEZF1	Breast hypoplasia	HP:0003187
389549	FEZF1	Micropenis	HP:0000054
389549	FEZF1	Paraplegia	HP:0010550
389549	FEZF1	Delayed puberty	HP:0000823
389549	FEZF1	Bimanual synkinesia	HP:0001335
389549	FEZF1	Tremor	HP:0001337
389549	FEZF1	Hyposmia	HP:0004409
389549	FEZF1	Visual impairment	HP:0000505
389549	FEZF1	Ptosis	HP:0000508
389549	FEZF1	Reduced bone mineral density	HP:0004349
389549	FEZF1	Delayed skeletal maturation	HP:0002750
389549	FEZF1	Anterior hypopituitarism	HP:0000830
389549	FEZF1	Nystagmus	HP:0000639
4522	MTHFD1	Lymphopenia	HP:0001888
4522	MTHFD1	Autoimmunity	HP:0002960
4522	MTHFD1	Megaloblastic anemia	HP:0001889
4522	MTHFD1	Seizures	HP:0001250
4522	MTHFD1	Pancytopenia	HP:0001876
4522	MTHFD1	Thrombocytosis	HP:0001894
4522	MTHFD1	Decreased methylcobalamin	HP:0003223
4522	MTHFD1	Intellectual disability, mild	HP:0001256
4522	MTHFD1	Decreased antibody level in blood	HP:0004313
4522	MTHFD1	Severe combined immunodeficiency	HP:0004430
4522	MTHFD1	Recurrent infections	HP:0002719
4524	MTHFR	Seizures	HP:0001250
4524	MTHFR	Behavioral abnormality	HP:0000708
4524	MTHFR	Autosomal recessive inheritance	HP:0000007
4524	MTHFR	Incoordination	HP:0002311
4524	MTHFR	Gait disturbance	HP:0001288
4524	MTHFR	Paresthesia	HP:0003401
4524	MTHFR	Homocystinuria	HP:0002156
4524	MTHFR	Muscle weakness	HP:0001324
4524	MTHFR	Primary adrenal insufficiency	HP:0008207
4524	MTHFR	Global developmental delay	HP:0001263
4524	MTHFR	Hyperhomocystinemia	HP:0002160
4524	MTHFR	Stroke	HP:0001297
4524	MTHFR	Anencephaly	HP:0002323
4524	MTHFR	Microcephaly	HP:0000252
29110	TBK1	Skeletal muscle atrophy	HP:0003202
29110	TBK1	Abnormal mitochondrial morphology	HP:0008322
29110	TBK1	Bulbar palsy	HP:0001283
29110	TBK1	Neurodegeneration	HP:0002180
29110	TBK1	Autosomal dominant inheritance	HP:0000006
29110	TBK1	Apraxia	HP:0002186
29110	TBK1	Dyscalculia	HP:0002442
29110	TBK1	Degeneration of the lateral corticospinal tracts	HP:0002314
29110	TBK1	Paralysis	HP:0003470
29110	TBK1	Perseveration	HP:0030223
29110	TBK1	Parkinsonism	HP:0001300
29110	TBK1	Neuronal loss in the cerebral cortex	HP:0007190
29110	TBK1	Progressive cerebellar ataxia	HP:0002073
29110	TBK1	Distal muscle weakness	HP:0002460
29110	TBK1	Language impairment	HP:0002463
29110	TBK1	Babinski sign	HP:0003487
29110	TBK1	Bilateral sensorineural hearing impairment	HP:0008619
29110	TBK1	Dyspnea	HP:0002094
29110	TBK1	Amyotrophic lateral sclerosis	HP:0007354
29110	TBK1	Abnormal lower motor neuron morphology	HP:0002366
29110	TBK1	Respiratory failure	HP:0002878
29110	TBK1	Muscle spasm	HP:0003394
29110	TBK1	Hyperreflexia	HP:0001347
29110	TBK1	Cerebral cortical atrophy	HP:0002120
29110	TBK1	Emotional lability	HP:0000712
29110	TBK1	Agitation	HP:0000713
29110	TBK1	Fasciculations	HP:0002380
29110	TBK1	Depressivity	HP:0000716
29110	TBK1	Abnormal upper motor neuron morphology	HP:0002127
29110	TBK1	Laryngospasm	HP:0025425
29110	TBK1	Paraparesis	HP:0002385
29110	TBK1	Xerostomia	HP:0000217
29110	TBK1	Fatigue	HP:0012378
29110	TBK1	Progressive	HP:0003676
29110	TBK1	Supranuclear gaze palsy	HP:0000605
29110	TBK1	Disinhibition	HP:0000734
29110	TBK1	Dysphagia	HP:0002015
29110	TBK1	Frontotemporal dementia	HP:0002145
29110	TBK1	Nausea and vomiting	HP:0002017
29110	TBK1	Tetraparesis	HP:0002273
29110	TBK1	Hallucinations	HP:0000738
29110	TBK1	Anxiety	HP:0000739
29110	TBK1	Apathy	HP:0000741
29110	TBK1	Spasticity	HP:0001257
29110	TBK1	Global brain atrophy	HP:0002283
29110	TBK1	Dysarthria	HP:0001260
29110	TBK1	Personality changes	HP:0000751
29110	TBK1	Hyporeflexia	HP:0001265
29110	TBK1	Fatigable weakness of swallowing muscles	HP:0030195
29110	TBK1	Pain	HP:0012531
29110	TBK1	Fatigable weakness of respiratory muscles	HP:0030196
29110	TBK1	Generalized amyotrophy	HP:0003700
29110	TBK1	Proximal muscle weakness	HP:0003701
29110	TBK1	Gliosis	HP:0002171
29110	TBK1	Mutism	HP:0002300
29110	TBK1	Generalized muscle weakness	HP:0003324
29110	TBK1	Ptosis	HP:0000508
29110	TBK1	Adult onset	HP:0003581
4534	MTM1	Macrocephaly	HP:0000256
4534	MTM1	EMG abnormality	HP:0003457
4534	MTM1	Skeletal muscle atrophy	HP:0003202
4534	MTM1	Decreased liver function	HP:0001410
4534	MTM1	Areflexia	HP:0001284
4534	MTM1	Facial palsy	HP:0010628
4534	MTM1	Hypokinesia	HP:0002375
4534	MTM1	Gait disturbance	HP:0001288
4534	MTM1	X-linked recessive inheritance	HP:0001419
4534	MTM1	Atrioventricular block	HP:0001678
4534	MTM1	Arachnodactyly	HP:0001166
4534	MTM1	Neonatal respiratory distress	HP:0002643
4534	MTM1	Narrow face	HP:0000275
4534	MTM1	Neck muscle weakness	HP:0000467
4534	MTM1	Long face	HP:0000276
4534	MTM1	Diaphragmatic eventration	HP:0009110
4534	MTM1	Decreased fetal movement	HP:0001558
4534	MTM1	Respiratory failure requiring assisted ventilation	HP:0004887
4534	MTM1	Cavernous hemangioma	HP:0001048
4534	MTM1	Polyhydramnios	HP:0001561
4534	MTM1	Scoliosis	HP:0002650
4534	MTM1	High palate	HP:0000218
4534	MTM1	Flexion contracture	HP:0001371
4534	MTM1	Cryptorchidism	HP:0000028
4534	MTM1	External ophthalmoplegia	HP:0000544
4534	MTM1	Seizures	HP:0001250
4534	MTM1	Muscular hypotonia	HP:0001252
4534	MTM1	Pyloric stenosis	HP:0002021
4534	MTM1	Head tremor	HP:0002346
4534	MTM1	Mask-like facies	HP:0000298
4534	MTM1	Slender toe	HP:0011308
4534	MTM1	Severe muscular hypotonia	HP:0006829
4534	MTM1	Hydrocephalus	HP:0000238
4534	MTM1	Ptosis	HP:0000508
4534	MTM1	Generalized muscle weakness	HP:0003324
4534	MTM1	Birth length greater than 97th percentile	HP:0003517
4534	MTM1	Respiratory failure	HP:0002878
4535	ND1	Death in early adulthood	HP:0100613
4535	ND1	Cataract	HP:0000518
4535	ND1	Developmental cataract	HP:0000519
4535	ND1	Episodic vomiting	HP:0002572
4535	ND1	Primary adrenal insufficiency	HP:0008207
4535	ND1	Encephalopathy	HP:0001298
4535	ND1	Gastroparesis	HP:0002578
4535	ND1	Reduced consciousness/confusion	HP:0004372
4535	ND1	Generalized tonic-clonic seizures	HP:0002069
4535	ND1	Abnormality of retinal pigmentation	HP:0007703
4535	ND1	Migraine	HP:0002076
4535	ND1	Hypopigmented skin patches	HP:0001053
4535	ND1	Reduced tendon reflexes	HP:0001315
4535	ND1	Thyroiditis	HP:0100646
4535	ND1	Retinal vascular tortuosity	HP:0012841
4535	ND1	Left ventricular dysfunction	HP:0005162
4535	ND1	Type I diabetes mellitus	HP:0100651
4535	ND1	Mask-like facies	HP:0000298
4535	ND1	Pulmonary arterial hypertension	HP:0002092
4535	ND1	Muscle weakness	HP:0001324
4535	ND1	Respiratory insufficiency	HP:0002093
4535	ND1	EEG abnormality	HP:0002353
4535	ND1	Memory impairment	HP:0002354
4535	ND1	Diabetes mellitus	HP:0000819
4535	ND1	Dystonia	HP:0001332
4535	ND1	Hypothyroidism	HP:0000821
4535	ND1	Hypertension	HP:0000822
4535	ND1	Delayed puberty	HP:0000823
4535	ND1	Lactic acidosis	HP:0003128
4535	ND1	Apnea	HP:0002104
4535	ND1	Tremor	HP:0001337
4535	ND1	Visual loss	HP:0000572
4535	ND1	Hypertelorism	HP:0000316
4535	ND1	Hypoparathyroidism	HP:0000829
4535	ND1	Anterior hypopituitarism	HP:0000830
4535	ND1	Centrocecal scotoma	HP:0000576
4535	ND1	Hyperthyroidism	HP:0000836
4535	ND1	Ventriculomegaly	HP:0002119
4535	ND1	Developmental regression	HP:0002376
4535	ND1	Cerebral cortical atrophy	HP:0002120
4535	ND1	Paresthesia	HP:0003401
4535	ND1	Aphasia	HP:0002381
4535	ND1	Cerebral ischemia	HP:0002637
4535	ND1	Aortic aneurysm	HP:0004942
4535	ND1	Abnormal macular morphology	HP:0001103
4535	ND1	Retinal telangiectasia	HP:0007763
4535	ND1	Renal insufficiency	HP:0000083
4535	ND1	Ophthalmoparesis	HP:0000597
4535	ND1	Goiter	HP:0000853
4535	ND1	Aortic dissection	HP:0002647
4535	ND1	Central retinal vessel vascular tortuosity	HP:0007768
4535	ND1	Leber optic atrophy	HP:0001112
4535	ND1	Hemianopia	HP:0012377
4535	ND1	Ophthalmoplegia	HP:0000602
4535	ND1	Type II diabetes mellitus	HP:0005978
4535	ND1	Fatigue	HP:0012378
4535	ND1	Central scotoma	HP:0000603
4535	ND1	Proteinuria	HP:0000093
4535	ND1	Intestinal obstruction	HP:0005214
4535	ND1	Stroke-like episode	HP:0002401
4535	ND1	Cerebral visual impairment	HP:0100704
4535	ND1	Congestive heart failure	HP:0001635
4535	ND1	Nephrotic syndrome	HP:0000100
4535	ND1	Peripheral neuropathy	HP:0009830
4535	ND1	Hypercalciuria	HP:0002150
4535	ND1	Hypertrophic cardiomyopathy	HP:0001639
4535	ND1	Increased serum lactate	HP:0002151
4535	ND1	Attention deficit hyperactivity disorder	HP:0007018
4535	ND1	Sudden cardiac death	HP:0001645
4535	ND1	Blurred vision	HP:0000622
4535	ND1	Optic neuropathy	HP:0001138
4535	ND1	Clonus	HP:0002169
4535	ND1	Abnormal mitochondria in muscle tissue	HP:0008316
4535	ND1	Myopathy	HP:0003198
4535	ND1	Postural tremor	HP:0002174
4535	ND1	Ragged-red muscle fibers	HP:0003200
4535	ND1	Ichthyosis	HP:0008064
4535	ND1	EMG abnormality	HP:0003457
4535	ND1	Skeletal muscle atrophy	HP:0003202
4535	ND1	Optic atrophy	HP:0000648
4535	ND1	Abnormality of visual evoked potentials	HP:0000649
4535	ND1	Heterogeneous	HP:0001425
4535	ND1	Mitochondrial inheritance	HP:0001427
4535	ND1	Nyctalopia	HP:0000662
4535	ND1	Sensorineural hearing impairment	HP:0000407
4535	ND1	Progressive sensorineural hearing impairment	HP:0000408
4535	ND1	Mitochondrial myopathy	HP:0003737
4535	ND1	Fever	HP:0001945
4535	ND1	Arrhythmia	HP:0011675
4535	ND1	Protruding ear	HP:0000411
4535	ND1	Pulmonary embolism	HP:0002204
4535	ND1	Carious teeth	HP:0000670
4535	ND1	Elevated serum creatine kinase	HP:0003236
4535	ND1	Feeding difficulties in infancy	HP:0008872
4535	ND1	Bilateral sensorineural hearing impairment	HP:0008619
4535	ND1	Left ventricular hypertrophy	HP:0001712
4535	ND1	Tubulointerstitial abnormality	HP:0001969
4535	ND1	Heart block	HP:0012722
4535	ND1	Wolff-Parkinson-White syndrome	HP:0001716
4535	ND1	Generalized hirsutism	HP:0002230
4535	ND1	Mitochondrial respiratory chain defects	HP:0200125
4535	ND1	Delayed skeletal maturation	HP:0002750
4535	ND1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4535	ND1	Pancreatitis	HP:0001733
4535	ND1	Depressivity	HP:0000716
4535	ND1	Autism	HP:0000717
4535	ND1	Cerebral calcification	HP:0002514
4535	ND1	Gingival overgrowth	HP:0000212
4535	ND1	Ventricular preexcitation	HP:0004309
4535	ND1	Glomerulopathy	HP:0100820
4535	ND1	Psychotic episodes	HP:0000725
4535	ND1	Dementia	HP:0000726
4535	ND1	Abnormality of mitochondrial metabolism	HP:0003287
4535	ND1	Abnormality of neuronal migration	HP:0002269
4535	ND1	Amaurosis fugax	HP:0100576
4535	ND1	Nausea and vomiting	HP:0002017
4535	ND1	Short stature	HP:0004322
4535	ND1	Hallucinations	HP:0000738
4535	ND1	Ataxia	HP:0001251
4535	ND1	Growth abnormality	HP:0001507
4535	ND1	Constipation	HP:0002019
4535	ND1	Anxiety	HP:0000739
4535	ND1	Muscular hypotonia	HP:0001252
4535	ND1	Cachexia	HP:0004326
4535	ND1	Malabsorption	HP:0002024
4535	ND1	Abdominal pain	HP:0002027
4535	ND1	Dysarthria	HP:0001260
4535	ND1	Variable expressivity	HP:0003828
4535	ND1	Slow decrease in visual acuity	HP:0007924
4535	ND1	Arthrogryposis multiplex congenita	HP:0002804
4535	ND1	Multiple lipomas	HP:0001012
4535	ND1	Incomplete penetrance	HP:0003829
4535	ND1	Hemiparesis	HP:0001269
4535	ND1	Polyneuropathy	HP:0001271
4535	ND1	Anorexia	HP:0002039
4535	ND1	Decreased nerve conduction velocity	HP:0000762
4535	ND1	Spontaneous hematomas	HP:0007420
4535	ND1	Microcephaly	HP:0000252
4535	ND1	Ptosis	HP:0000508
4535	ND1	Myalgia	HP:0003326
4536	ND2	Centrocecal scotoma	HP:0000576
4536	ND2	Ataxia	HP:0001251
4536	ND2	Peripheral neuropathy	HP:0009830
4536	ND2	Optic atrophy	HP:0000648
4536	ND2	Retinal vascular tortuosity	HP:0012841
4536	ND2	Blurred vision	HP:0000622
4536	ND2	Heterogeneous	HP:0001425
4536	ND2	Optic neuropathy	HP:0001138
4536	ND2	Mitochondrial inheritance	HP:0001427
4536	ND2	Retinal telangiectasia	HP:0007763
4536	ND2	Dystonia	HP:0001332
4536	ND2	Slow decrease in visual acuity	HP:0007924
4536	ND2	Incomplete penetrance	HP:0003829
4536	ND2	Ventricular preexcitation	HP:0004309
4536	ND2	Polyneuropathy	HP:0001271
4536	ND2	Central retinal vessel vascular tortuosity	HP:0007768
4536	ND2	Leber optic atrophy	HP:0001112
4536	ND2	Arrhythmia	HP:0011675
4536	ND2	Central scotoma	HP:0000603
4536	ND2	Visual loss	HP:0000572
4536	ND2	Abnormal mitochondria in muscle tissue	HP:0008316
4536	ND2	Myopathy	HP:0003198
4536	ND2	Postural tremor	HP:0002174
4536	ND2	Mitochondrial respiratory chain defects	HP:0200125
4537	ND3	Abnormal mitochondria in muscle tissue	HP:0008316
4538	ND4	Death in early adulthood	HP:0100613
4538	ND4	Cataract	HP:0000518
4538	ND4	Primary adrenal insufficiency	HP:0008207
4538	ND4	Gastroparesis	HP:0002578
4538	ND4	Reduced consciousness/confusion	HP:0004372
4538	ND4	Generalized tonic-clonic seizures	HP:0002069
4538	ND4	Abnormality of retinal pigmentation	HP:0007703
4538	ND4	Migraine	HP:0002076
4538	ND4	Hypopigmented skin patches	HP:0001053
4538	ND4	Reduced tendon reflexes	HP:0001315
4538	ND4	Thyroiditis	HP:0100646
4538	ND4	Retinal vascular tortuosity	HP:0012841
4538	ND4	Type I diabetes mellitus	HP:0100651
4538	ND4	Mask-like facies	HP:0000298
4538	ND4	Pulmonary arterial hypertension	HP:0002092
4538	ND4	Muscle weakness	HP:0001324
4538	ND4	Respiratory insufficiency	HP:0002093
4538	ND4	EEG abnormality	HP:0002353
4538	ND4	Memory impairment	HP:0002354
4538	ND4	Dystonia	HP:0001332
4538	ND4	Hypothyroidism	HP:0000821
4538	ND4	Hypertension	HP:0000822
4538	ND4	Delayed puberty	HP:0000823
4538	ND4	Lactic acidosis	HP:0003128
4538	ND4	Apnea	HP:0002104
4538	ND4	Tremor	HP:0001337
4538	ND4	Visual loss	HP:0000572
4538	ND4	Hypertelorism	HP:0000316
4538	ND4	Hypoparathyroidism	HP:0000829
4538	ND4	Anterior hypopituitarism	HP:0000830
4538	ND4	Centrocecal scotoma	HP:0000576
4538	ND4	Hyperthyroidism	HP:0000836
4538	ND4	Ventriculomegaly	HP:0002119
4538	ND4	Developmental regression	HP:0002376
4538	ND4	Cerebral cortical atrophy	HP:0002120
4538	ND4	Paresthesia	HP:0003401
4538	ND4	Aphasia	HP:0002381
4538	ND4	Cerebral ischemia	HP:0002637
4538	ND4	Aortic aneurysm	HP:0004942
4538	ND4	Abnormal macular morphology	HP:0001103
4538	ND4	Retinal telangiectasia	HP:0007763
4538	ND4	Renal insufficiency	HP:0000083
4538	ND4	Ophthalmoparesis	HP:0000597
4538	ND4	Goiter	HP:0000853
4538	ND4	Aortic dissection	HP:0002647
4538	ND4	Central retinal vessel vascular tortuosity	HP:0007768
4538	ND4	Leber optic atrophy	HP:0001112
4538	ND4	Hemianopia	HP:0012377
4538	ND4	Type II diabetes mellitus	HP:0005978
4538	ND4	Fatigue	HP:0012378
4538	ND4	Central scotoma	HP:0000603
4538	ND4	Proteinuria	HP:0000093
4538	ND4	Intestinal obstruction	HP:0005214
4538	ND4	Stroke-like episode	HP:0002401
4538	ND4	Congestive heart failure	HP:0001635
4538	ND4	Nephrotic syndrome	HP:0000100
4538	ND4	Peripheral neuropathy	HP:0009830
4538	ND4	Hypercalciuria	HP:0002150
4538	ND4	Hypertrophic cardiomyopathy	HP:0001639
4538	ND4	Increased serum lactate	HP:0002151
4538	ND4	Attention deficit hyperactivity disorder	HP:0007018
4538	ND4	Sudden cardiac death	HP:0001645
4538	ND4	Blurred vision	HP:0000622
4538	ND4	Optic neuropathy	HP:0001138
4538	ND4	Clonus	HP:0002169
4538	ND4	Myopathy	HP:0003198
4538	ND4	Postural tremor	HP:0002174
4538	ND4	Ragged-red muscle fibers	HP:0003200
4538	ND4	Ichthyosis	HP:0008064
4538	ND4	EMG abnormality	HP:0003457
4538	ND4	Skeletal muscle atrophy	HP:0003202
4538	ND4	Optic atrophy	HP:0000648
4538	ND4	Abnormality of visual evoked potentials	HP:0000649
4538	ND4	Heterogeneous	HP:0001425
4538	ND4	Mitochondrial inheritance	HP:0001427
4538	ND4	Nyctalopia	HP:0000662
4538	ND4	Sensorineural hearing impairment	HP:0000407
4538	ND4	Fever	HP:0001945
4538	ND4	Mitochondrial myopathy	HP:0003737
4538	ND4	Arrhythmia	HP:0011675
4538	ND4	Protruding ear	HP:0000411
4538	ND4	Pulmonary embolism	HP:0002204
4538	ND4	Carious teeth	HP:0000670
4538	ND4	Elevated serum creatine kinase	HP:0003236
4538	ND4	Feeding difficulties in infancy	HP:0008872
4538	ND4	Tubulointerstitial abnormality	HP:0001969
4538	ND4	Heart block	HP:0012722
4538	ND4	Wolff-Parkinson-White syndrome	HP:0001716
4538	ND4	Generalized hirsutism	HP:0002230
4538	ND4	Mitochondrial respiratory chain defects	HP:0200125
4538	ND4	Delayed skeletal maturation	HP:0002750
4538	ND4	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4538	ND4	Pancreatitis	HP:0001733
4538	ND4	Depressivity	HP:0000716
4538	ND4	Autism	HP:0000717
4538	ND4	Cerebral calcification	HP:0002514
4538	ND4	Gingival overgrowth	HP:0000212
4538	ND4	Ventricular preexcitation	HP:0004309
4538	ND4	Glomerulopathy	HP:0100820
4538	ND4	Psychotic episodes	HP:0000725
4538	ND4	Abnormality of mitochondrial metabolism	HP:0003287
4538	ND4	Abnormality of neuronal migration	HP:0002269
4538	ND4	Amaurosis fugax	HP:0100576
4538	ND4	Nausea and vomiting	HP:0002017
4538	ND4	Short stature	HP:0004322
4538	ND4	Hallucinations	HP:0000738
4538	ND4	Ataxia	HP:0001251
4538	ND4	Constipation	HP:0002019
4538	ND4	Anxiety	HP:0000739
4538	ND4	Muscular hypotonia	HP:0001252
4538	ND4	Cachexia	HP:0004326
4538	ND4	Malabsorption	HP:0002024
4538	ND4	Abdominal pain	HP:0002027
4538	ND4	Dysarthria	HP:0001260
4538	ND4	Slow decrease in visual acuity	HP:0007924
4538	ND4	Arthrogryposis multiplex congenita	HP:0002804
4538	ND4	Multiple lipomas	HP:0001012
4538	ND4	Incomplete penetrance	HP:0003829
4538	ND4	Polyneuropathy	HP:0001271
4538	ND4	Anorexia	HP:0002039
4538	ND4	Decreased nerve conduction velocity	HP:0000762
4538	ND4	Spontaneous hematomas	HP:0007420
4538	ND4	Microcephaly	HP:0000252
4538	ND4	Ptosis	HP:0000508
4538	ND4	Myalgia	HP:0003326
4539	ND4L	Centrocecal scotoma	HP:0000576
4539	ND4L	Ataxia	HP:0001251
4539	ND4L	Peripheral neuropathy	HP:0009830
4539	ND4L	Optic atrophy	HP:0000648
4539	ND4L	Retinal vascular tortuosity	HP:0012841
4539	ND4L	Blurred vision	HP:0000622
4539	ND4L	Heterogeneous	HP:0001425
4539	ND4L	Optic neuropathy	HP:0001138
4539	ND4L	Mitochondrial inheritance	HP:0001427
4539	ND4L	Retinal telangiectasia	HP:0007763
4539	ND4L	Dystonia	HP:0001332
4539	ND4L	Slow decrease in visual acuity	HP:0007924
4539	ND4L	Incomplete penetrance	HP:0003829
4539	ND4L	Ventricular preexcitation	HP:0004309
4539	ND4L	Polyneuropathy	HP:0001271
4539	ND4L	Central retinal vessel vascular tortuosity	HP:0007768
4539	ND4L	Leber optic atrophy	HP:0001112
4539	ND4L	Arrhythmia	HP:0011675
4539	ND4L	Central scotoma	HP:0000603
4539	ND4L	Visual loss	HP:0000572
4539	ND4L	Myopathy	HP:0003198
4539	ND4L	Postural tremor	HP:0002174
4539	ND4L	Mitochondrial respiratory chain defects	HP:0200125
4540	ND5	Death in early adulthood	HP:0100613
4540	ND5	Cataract	HP:0000518
4540	ND5	Developmental cataract	HP:0000519
4540	ND5	Episodic vomiting	HP:0002572
4540	ND5	Primary adrenal insufficiency	HP:0008207
4540	ND5	Encephalopathy	HP:0001298
4540	ND5	Gastroparesis	HP:0002578
4540	ND5	Reduced consciousness/confusion	HP:0004372
4540	ND5	Generalized tonic-clonic seizures	HP:0002069
4540	ND5	Abnormality of retinal pigmentation	HP:0007703
4540	ND5	Migraine	HP:0002076
4540	ND5	Hypopigmented skin patches	HP:0001053
4540	ND5	Reduced tendon reflexes	HP:0001315
4540	ND5	Thyroiditis	HP:0100646
4540	ND5	Retinal vascular tortuosity	HP:0012841
4540	ND5	Left ventricular dysfunction	HP:0005162
4540	ND5	Type I diabetes mellitus	HP:0100651
4540	ND5	Mask-like facies	HP:0000298
4540	ND5	Pulmonary arterial hypertension	HP:0002092
4540	ND5	Muscle weakness	HP:0001324
4540	ND5	Respiratory insufficiency	HP:0002093
4540	ND5	EEG abnormality	HP:0002353
4540	ND5	Memory impairment	HP:0002354
4540	ND5	Diabetes mellitus	HP:0000819
4540	ND5	Dystonia	HP:0001332
4540	ND5	Hypothyroidism	HP:0000821
4540	ND5	Hypertension	HP:0000822
4540	ND5	Delayed puberty	HP:0000823
4540	ND5	Lactic acidosis	HP:0003128
4540	ND5	Apnea	HP:0002104
4540	ND5	Tremor	HP:0001337
4540	ND5	Visual loss	HP:0000572
4540	ND5	Hypertelorism	HP:0000316
4540	ND5	Hypoparathyroidism	HP:0000829
4540	ND5	Anterior hypopituitarism	HP:0000830
4540	ND5	Centrocecal scotoma	HP:0000576
4540	ND5	Hyperthyroidism	HP:0000836
4540	ND5	Ventriculomegaly	HP:0002119
4540	ND5	Developmental regression	HP:0002376
4540	ND5	Cerebral cortical atrophy	HP:0002120
4540	ND5	Paresthesia	HP:0003401
4540	ND5	Generalized myoclonic seizures	HP:0002123
4540	ND5	Aphasia	HP:0002381
4540	ND5	Cerebral ischemia	HP:0002637
4540	ND5	Aortic aneurysm	HP:0004942
4540	ND5	Abnormal macular morphology	HP:0001103
4540	ND5	Retinal telangiectasia	HP:0007763
4540	ND5	Renal insufficiency	HP:0000083
4540	ND5	Ophthalmoparesis	HP:0000597
4540	ND5	Goiter	HP:0000853
4540	ND5	Aortic dissection	HP:0002647
4540	ND5	Central retinal vessel vascular tortuosity	HP:0007768
4540	ND5	Leber optic atrophy	HP:0001112
4540	ND5	Hemianopia	HP:0012377
4540	ND5	Ophthalmoplegia	HP:0000602
4540	ND5	Type II diabetes mellitus	HP:0005978
4540	ND5	Fatigue	HP:0012378
4540	ND5	Central scotoma	HP:0000603
4540	ND5	Proteinuria	HP:0000093
4540	ND5	Intestinal obstruction	HP:0005214
4540	ND5	Stroke-like episode	HP:0002401
4540	ND5	Cerebral visual impairment	HP:0100704
4540	ND5	Congestive heart failure	HP:0001635
4540	ND5	Nephrotic syndrome	HP:0000100
4540	ND5	Peripheral neuropathy	HP:0009830
4540	ND5	Hypercalciuria	HP:0002150
4540	ND5	Hypertrophic cardiomyopathy	HP:0001639
4540	ND5	Increased serum lactate	HP:0002151
4540	ND5	Attention deficit hyperactivity disorder	HP:0007018
4540	ND5	Sudden cardiac death	HP:0001645
4540	ND5	Blurred vision	HP:0000622
4540	ND5	Optic neuropathy	HP:0001138
4540	ND5	Clonus	HP:0002169
4540	ND5	Myopathy	HP:0003198
4540	ND5	Postural tremor	HP:0002174
4540	ND5	Ragged-red muscle fibers	HP:0003200
4540	ND5	Ichthyosis	HP:0008064
4540	ND5	EMG abnormality	HP:0003457
4540	ND5	Skeletal muscle atrophy	HP:0003202
4540	ND5	Optic atrophy	HP:0000648
4540	ND5	Abnormality of visual evoked potentials	HP:0000649
4540	ND5	Heterogeneous	HP:0001425
4540	ND5	Mitochondrial inheritance	HP:0001427
4540	ND5	Nyctalopia	HP:0000662
4540	ND5	Sensorineural hearing impairment	HP:0000407
4540	ND5	Progressive sensorineural hearing impairment	HP:0000408
4540	ND5	Mitochondrial myopathy	HP:0003737
4540	ND5	Fever	HP:0001945
4540	ND5	Arrhythmia	HP:0011675
4540	ND5	Protruding ear	HP:0000411
4540	ND5	Pulmonary embolism	HP:0002204
4540	ND5	Carious teeth	HP:0000670
4540	ND5	Elevated serum creatine kinase	HP:0003236
4540	ND5	Feeding difficulties in infancy	HP:0008872
4540	ND5	Bilateral sensorineural hearing impairment	HP:0008619
4540	ND5	Left ventricular hypertrophy	HP:0001712
4540	ND5	Tubulointerstitial abnormality	HP:0001969
4540	ND5	Heart block	HP:0012722
4540	ND5	Wolff-Parkinson-White syndrome	HP:0001716
4540	ND5	Generalized hirsutism	HP:0002230
4540	ND5	Abnormality of movement	HP:0100022
4540	ND5	Mitochondrial respiratory chain defects	HP:0200125
4540	ND5	Cognitive impairment	HP:0100543
4540	ND5	Delayed skeletal maturation	HP:0002750
4540	ND5	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4540	ND5	Pancreatitis	HP:0001733
4540	ND5	Depressivity	HP:0000716
4540	ND5	Autism	HP:0000717
4540	ND5	Cerebral calcification	HP:0002514
4540	ND5	Gingival overgrowth	HP:0000212
4540	ND5	Ventricular preexcitation	HP:0004309
4540	ND5	Glomerulopathy	HP:0100820
4540	ND5	Psychotic episodes	HP:0000725
4540	ND5	Dementia	HP:0000726
4540	ND5	Abnormality of mitochondrial metabolism	HP:0003287
4540	ND5	Abnormality of neuronal migration	HP:0002269
4540	ND5	Amaurosis fugax	HP:0100576
4540	ND5	Nausea and vomiting	HP:0002017
4540	ND5	Short stature	HP:0004322
4540	ND5	Hallucinations	HP:0000738
4540	ND5	Ataxia	HP:0001251
4540	ND5	Growth abnormality	HP:0001507
4540	ND5	Constipation	HP:0002019
4540	ND5	Anxiety	HP:0000739
4540	ND5	Muscular hypotonia	HP:0001252
4540	ND5	Cachexia	HP:0004326
4540	ND5	Malabsorption	HP:0002024
4540	ND5	Abdominal pain	HP:0002027
4540	ND5	Dysarthria	HP:0001260
4540	ND5	Variable expressivity	HP:0003828
4540	ND5	Slow decrease in visual acuity	HP:0007924
4540	ND5	Multiple lipomas	HP:0001012
4540	ND5	Arthrogryposis multiplex congenita	HP:0002804
4540	ND5	Incomplete penetrance	HP:0003829
4540	ND5	Hemiparesis	HP:0001269
4540	ND5	Polyneuropathy	HP:0001271
4540	ND5	Anorexia	HP:0002039
4540	ND5	Decreased nerve conduction velocity	HP:0000762
4540	ND5	Spontaneous hematomas	HP:0007420
4540	ND5	Microcephaly	HP:0000252
4540	ND5	Ptosis	HP:0000508
4540	ND5	Myalgia	HP:0003326
4541	ND6	Death in early adulthood	HP:0100613
4541	ND6	Cataract	HP:0000518
4541	ND6	Developmental cataract	HP:0000519
4541	ND6	Episodic vomiting	HP:0002572
4541	ND6	Primary adrenal insufficiency	HP:0008207
4541	ND6	Encephalopathy	HP:0001298
4541	ND6	Gastroparesis	HP:0002578
4541	ND6	Reduced consciousness/confusion	HP:0004372
4541	ND6	Generalized tonic-clonic seizures	HP:0002069
4541	ND6	Abnormality of retinal pigmentation	HP:0007703
4541	ND6	Migraine	HP:0002076
4541	ND6	Hypopigmented skin patches	HP:0001053
4541	ND6	Reduced tendon reflexes	HP:0001315
4541	ND6	Thyroiditis	HP:0100646
4541	ND6	Retinal vascular tortuosity	HP:0012841
4541	ND6	Left ventricular dysfunction	HP:0005162
4541	ND6	Type I diabetes mellitus	HP:0100651
4541	ND6	Mask-like facies	HP:0000298
4541	ND6	Pulmonary arterial hypertension	HP:0002092
4541	ND6	Muscle weakness	HP:0001324
4541	ND6	Respiratory insufficiency	HP:0002093
4541	ND6	EEG abnormality	HP:0002353
4541	ND6	Memory impairment	HP:0002354
4541	ND6	Diabetes mellitus	HP:0000819
4541	ND6	Dystonia	HP:0001332
4541	ND6	Hypothyroidism	HP:0000821
4541	ND6	Hypertension	HP:0000822
4541	ND6	Delayed puberty	HP:0000823
4541	ND6	Lactic acidosis	HP:0003128
4541	ND6	Apnea	HP:0002104
4541	ND6	Tremor	HP:0001337
4541	ND6	Visual loss	HP:0000572
4541	ND6	Hypertelorism	HP:0000316
4541	ND6	Hypoparathyroidism	HP:0000829
4541	ND6	Anterior hypopituitarism	HP:0000830
4541	ND6	Centrocecal scotoma	HP:0000576
4541	ND6	Hyperthyroidism	HP:0000836
4541	ND6	Ventriculomegaly	HP:0002119
4541	ND6	Developmental regression	HP:0002376
4541	ND6	Cerebral cortical atrophy	HP:0002120
4541	ND6	Paresthesia	HP:0003401
4541	ND6	Aphasia	HP:0002381
4541	ND6	Cerebral ischemia	HP:0002637
4541	ND6	Aortic aneurysm	HP:0004942
4541	ND6	Abnormal macular morphology	HP:0001103
4541	ND6	Retinal telangiectasia	HP:0007763
4541	ND6	Renal insufficiency	HP:0000083
4541	ND6	Ophthalmoparesis	HP:0000597
4541	ND6	Goiter	HP:0000853
4541	ND6	Aortic dissection	HP:0002647
4541	ND6	Central retinal vessel vascular tortuosity	HP:0007768
4541	ND6	Leber optic atrophy	HP:0001112
4541	ND6	Hemianopia	HP:0012377
4541	ND6	Ophthalmoplegia	HP:0000602
4541	ND6	Type II diabetes mellitus	HP:0005978
4541	ND6	Fatigue	HP:0012378
4541	ND6	Central scotoma	HP:0000603
4541	ND6	Proteinuria	HP:0000093
4541	ND6	Intestinal obstruction	HP:0005214
4541	ND6	Stroke-like episode	HP:0002401
4541	ND6	Cerebral visual impairment	HP:0100704
4541	ND6	Congestive heart failure	HP:0001635
4541	ND6	Nephrotic syndrome	HP:0000100
4541	ND6	Peripheral neuropathy	HP:0009830
4541	ND6	Hypercalciuria	HP:0002150
4541	ND6	Hypertrophic cardiomyopathy	HP:0001639
4541	ND6	Increased serum lactate	HP:0002151
4541	ND6	Attention deficit hyperactivity disorder	HP:0007018
4541	ND6	Sudden cardiac death	HP:0001645
4541	ND6	Blurred vision	HP:0000622
4541	ND6	Optic neuropathy	HP:0001138
4541	ND6	Clonus	HP:0002169
4541	ND6	Myopathy	HP:0003198
4541	ND6	Postural tremor	HP:0002174
4541	ND6	Ragged-red muscle fibers	HP:0003200
4541	ND6	Ichthyosis	HP:0008064
4541	ND6	EMG abnormality	HP:0003457
4541	ND6	Skeletal muscle atrophy	HP:0003202
4541	ND6	Optic atrophy	HP:0000648
4541	ND6	Abnormality of visual evoked potentials	HP:0000649
4541	ND6	Heterogeneous	HP:0001425
4541	ND6	Mitochondrial inheritance	HP:0001427
4541	ND6	Nyctalopia	HP:0000662
4541	ND6	Sensorineural hearing impairment	HP:0000407
4541	ND6	Progressive sensorineural hearing impairment	HP:0000408
4541	ND6	Mitochondrial myopathy	HP:0003737
4541	ND6	Fever	HP:0001945
4541	ND6	Arrhythmia	HP:0011675
4541	ND6	Protruding ear	HP:0000411
4541	ND6	Pulmonary embolism	HP:0002204
4541	ND6	Carious teeth	HP:0000670
4541	ND6	Elevated serum creatine kinase	HP:0003236
4541	ND6	Feeding difficulties in infancy	HP:0008872
4541	ND6	Bilateral sensorineural hearing impairment	HP:0008619
4541	ND6	Left ventricular hypertrophy	HP:0001712
4541	ND6	Tubulointerstitial abnormality	HP:0001969
4541	ND6	Heart block	HP:0012722
4541	ND6	Wolff-Parkinson-White syndrome	HP:0001716
4541	ND6	Generalized hirsutism	HP:0002230
4541	ND6	Mitochondrial respiratory chain defects	HP:0200125
4541	ND6	Delayed skeletal maturation	HP:0002750
4541	ND6	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4541	ND6	Pancreatitis	HP:0001733
4541	ND6	Depressivity	HP:0000716
4541	ND6	Autism	HP:0000717
4541	ND6	Cerebral calcification	HP:0002514
4541	ND6	Gingival overgrowth	HP:0000212
4541	ND6	Ventricular preexcitation	HP:0004309
4541	ND6	Glomerulopathy	HP:0100820
4541	ND6	Psychotic episodes	HP:0000725
4541	ND6	Dementia	HP:0000726
4541	ND6	Abnormality of mitochondrial metabolism	HP:0003287
4541	ND6	Abnormality of neuronal migration	HP:0002269
4541	ND6	Amaurosis fugax	HP:0100576
4541	ND6	Nausea and vomiting	HP:0002017
4541	ND6	Short stature	HP:0004322
4541	ND6	Hallucinations	HP:0000738
4541	ND6	Ataxia	HP:0001251
4541	ND6	Growth abnormality	HP:0001507
4541	ND6	Constipation	HP:0002019
4541	ND6	Anxiety	HP:0000739
4541	ND6	Muscular hypotonia	HP:0001252
4541	ND6	Cachexia	HP:0004326
4541	ND6	Malabsorption	HP:0002024
4541	ND6	Abdominal pain	HP:0002027
4541	ND6	Dysarthria	HP:0001260
4541	ND6	Variable expressivity	HP:0003828
4541	ND6	Slow decrease in visual acuity	HP:0007924
4541	ND6	Arthrogryposis multiplex congenita	HP:0002804
4541	ND6	Multiple lipomas	HP:0001012
4541	ND6	Incomplete penetrance	HP:0003829
4541	ND6	Hemiparesis	HP:0001269
4541	ND6	Polyneuropathy	HP:0001271
4541	ND6	Anorexia	HP:0002039
4541	ND6	Decreased nerve conduction velocity	HP:0000762
4541	ND6	Spontaneous hematomas	HP:0007420
4541	ND6	Microcephaly	HP:0000252
4541	ND6	Ptosis	HP:0000508
4541	ND6	Myalgia	HP:0003326
29119	CTNNA3	Ventricular tachycardia	HP:0004756
29119	CTNNA3	Autosomal dominant inheritance	HP:0000006
29119	CTNNA3	Bundle branch block	HP:0011710
29123	ANKRD11	Preauricular skin tag	HP:0000384
29123	ANKRD11	Vertebral fusion	HP:0002948
29123	ANKRD11	Clinodactyly	HP:0030084
29123	ANKRD11	Chronic otitis media	HP:0000389
29123	ANKRD11	Autosomal dominant inheritance	HP:0000006
29123	ANKRD11	Rib fusion	HP:0000902
29123	ANKRD11	Syndactyly	HP:0001159
29123	ANKRD11	Increased mean corpuscular volume	HP:0005518
29123	ANKRD11	Macrotia	HP:0000400
29123	ANKRD11	Long face	HP:0000276
29123	ANKRD11	Proximal placement of thumb	HP:0009623
29123	ANKRD11	Synophrys	HP:0000664
29123	ANKRD11	Wide mouth	HP:0000154
29123	ANKRD11	Protruding ear	HP:0000411
29123	ANKRD11	Cryptorchidism	HP:0000028
29123	ANKRD11	Widely-spaced maxillary central incisors	HP:0001566
29123	ANKRD11	Hypoplasia of the corpus callosum	HP:0002079
29123	ANKRD11	Myopia	HP:0000545
29123	ANKRD11	Macrodontia	HP:0001572
29123	ANKRD11	Oligodontia	HP:0000677
29123	ANKRD11	Intellectual disability, moderate	HP:0002342
29123	ANKRD11	Low anterior hairline	HP:0000294
29123	ANKRD11	Prominent nasal bridge	HP:0000426
29123	ANKRD11	Single median maxillary incisor	HP:0006315
29123	ANKRD11	Underdeveloped nasal alae	HP:0000430
29123	ANKRD11	Cleft palate	HP:0000175
29123	ANKRD11	EEG abnormality	HP:0002353
29123	ANKRD11	Pointed chin	HP:0000307
29123	ANKRD11	Cutaneous syndactyly	HP:0012725
29123	ANKRD11	Round face	HP:0000311
29123	ANKRD11	Thick vermilion border	HP:0012471
29123	ANKRD11	Single transverse palmar crease	HP:0000954
29123	ANKRD11	Hypertelorism	HP:0000316
29123	ANKRD11	Thick eyebrow	HP:0000574
29123	ANKRD11	Delayed skeletal maturation	HP:0002750
29123	ANKRD11	Smooth philtrum	HP:0000319
29123	ANKRD11	Feeding difficulties	HP:0011968
29123	ANKRD11	Bilateral conductive hearing impairment	HP:0008513
29123	ANKRD11	Triangular face	HP:0000325
29123	ANKRD11	Upslanted palpebral fissure	HP:0000582
29123	ANKRD11	Biparietal narrowing	HP:0004422
29123	ANKRD11	Ventriculomegaly	HP:0002119
29123	ANKRD11	Autism	HP:0000717
29123	ANKRD11	Anteverted nares	HP:0000463
29123	ANKRD11	Webbed neck	HP:0000465
29123	ANKRD11	Thrombocytopenia	HP:0001873
29123	ANKRD11	Finger clinodactyly	HP:0040019
29123	ANKRD11	Short neck	HP:0000470
29123	ANKRD11	Long philtrum	HP:0000343
29123	ANKRD11	Frontal bossing	HP:0002007
29123	ANKRD11	Congenital malformation of the left heart	HP:0045017
29123	ANKRD11	Scoliosis	HP:0002650
29123	ANKRD11	High palate	HP:0000218
29123	ANKRD11	Thin upper lip vermilion	HP:0000219
29123	ANKRD11	Micrognathia	HP:0000347
29123	ANKRD11	High forehead	HP:0000348
29123	ANKRD11	Ventricular septal defect	HP:0001629
29123	ANKRD11	Dysphagia	HP:0002015
29123	ANKRD11	Abnormal hair pattern	HP:0010720
29123	ANKRD11	Colpocephaly	HP:0030048
29123	ANKRD11	Optic nerve hypoplasia	HP:0000609
29123	ANKRD11	Intellectual disability	HP:0001249
29123	ANKRD11	Seizures	HP:0001250
29123	ANKRD11	Short stature	HP:0004322
29123	ANKRD11	Astigmatism	HP:0000483
29123	ANKRD11	Strabismus	HP:0000486
29123	ANKRD11	Hip dysplasia	HP:0001385
29123	ANKRD11	Dilated cardiomyopathy	HP:0001644
29123	ANKRD11	Hearing impairment	HP:0000365
29123	ANKRD11	Delayed speech and language development	HP:0000750
29123	ANKRD11	Global developmental delay	HP:0001263
29123	ANKRD11	Low posterior hairline	HP:0002162
29123	ANKRD11	Mitral regurgitation	HP:0001653
29123	ANKRD11	Vertebral arch anomaly	HP:0008438
29123	ANKRD11	Kyphosis	HP:0002808
29123	ANKRD11	Visual impairment	HP:0000505
29123	ANKRD11	Highly arched eyebrow	HP:0002553
29123	ANKRD11	Persistent open anterior fontanelle	HP:0004474
29123	ANKRD11	Telecanthus	HP:0000506
29123	ANKRD11	Radial deviation of finger	HP:0009466
29123	ANKRD11	Cervical ribs	HP:0000891
29123	ANKRD11	Microcephaly	HP:0000252
29123	ANKRD11	Long palpebral fissure	HP:0000637
29123	ANKRD11	Periventricular heterotopia	HP:0007165
29123	ANKRD11	Thoracic kyphosis	HP:0002942
29123	ANKRD11	Nystagmus	HP:0000639
4547	MTTP	Retinal degeneration	HP:0000546
4547	MTTP	Ataxia	HP:0001251
4547	MTTP	Reduced tendon reflexes	HP:0001315
4547	MTTP	Muscular hypotonia	HP:0001252
4547	MTTP	Fat malabsorption	HP:0002630
4547	MTTP	Acanthocytosis	HP:0001927
4547	MTTP	Autosomal recessive inheritance	HP:0000007
4547	MTTP	Retinopathy	HP:0000488
4547	MTTP	Malabsorption	HP:0002024
4547	MTTP	CNS demyelination	HP:0007305
4547	MTTP	Abetalipoproteinemia	HP:0008181
4547	MTTP	Abnormality of retinal pigmentation	HP:0007703
4547	MTTP	Peripheral demyelination	HP:0011096
4547	MTTP	Visual impairment	HP:0000505
4548	MTR	Intellectual disability	HP:0001249
4548	MTR	Megaloblastic anemia	HP:0001889
4548	MTR	Seizures	HP:0001250
4548	MTR	Poor coordination	HP:0002370
4548	MTR	Failure to thrive	HP:0001508
4548	MTR	Decreased methionine synthase activity	HP:0003524
4548	MTR	Autosomal recessive inheritance	HP:0000007
4548	MTR	Feeding difficulties in infancy	HP:0008872
4548	MTR	Gait disturbance	HP:0001288
4548	MTR	Infantile onset	HP:0003593
4548	MTR	Generalized hypotonia	HP:0001290
4548	MTR	Hypomethioninemia	HP:0003658
4548	MTR	Blindness	HP:0000618
4548	MTR	Cerebral atrophy	HP:0002059
4548	MTR	Homocystinuria	HP:0002156
4548	MTR	Global developmental delay	HP:0001263
4548	MTR	Hyperhomocystinemia	HP:0002160
4548	MTR	Decreased methylcobalamin	HP:0003223
4548	MTR	Nystagmus	HP:0000639
4549	RNR1	Ragged-red muscle fibers	HP:0003200
4549	RNR1	EMG abnormality	HP:0003457
4549	RNR1	Short stature	HP:0004322
4549	RNR1	Ataxia	HP:0001251
4549	RNR1	Multiple lipomas	HP:0001012
4549	RNR1	Sensorineural hearing impairment	HP:0000407
4549	RNR1	Abnormality of movement	HP:0100022
4549	RNR1	Optic atrophy	HP:0000648
4549	RNR1	Generalized myoclonic seizures	HP:0002123
4549	RNR1	Cognitive impairment	HP:0100543
4549	RNR1	Myopathy	HP:0003198
340419	RSPO2	Abnormality of the larynx	HP:0001600
340419	RSPO2	Multicystic kidney dysplasia	HP:0000003
340419	RSPO2	Aplasia/Hypoplasia involving the nose	HP:0009924
340419	RSPO2	Cataract	HP:0000518
340419	RSPO2	Optic atrophy	HP:0000648
340419	RSPO2	Prominent glabella	HP:0002057
340419	RSPO2	Oral cleft	HP:0000202
340419	RSPO2	Aplasia/Hypoplasia involving the pelvis	HP:0009103
340419	RSPO2	Vaginal atresia	HP:0000148
340419	RSPO2	Retrognathia	HP:0000278
340419	RSPO2	Abnormally ossified vertebrae	HP:0100569
340419	RSPO2	Missing ribs	HP:0000921
340419	RSPO2	Tracheal stenosis	HP:0002777
340419	RSPO2	Polyhydramnios	HP:0001561
340419	RSPO2	Micrognathia	HP:0000347
340419	RSPO2	Cryptorchidism	HP:0000028
340419	RSPO2	Ventricular septal defect	HP:0001629
340419	RSPO2	Narrow mouth	HP:0000160
340419	RSPO2	Glossoptosis	HP:0000162
340419	RSPO2	Microcornea	HP:0000482
340419	RSPO2	Iris coloboma	HP:0000612
340419	RSPO2	Microtia	HP:0008551
340419	RSPO2	Anal atresia	HP:0002023
340419	RSPO2	Septo-optic dysplasia	HP:0100842
340419	RSPO2	Hydrocephalus	HP:0000238
340419	RSPO2	Aplasia/Hypoplasia of the lungs	HP:0006703
340419	RSPO2	Bilateral talipes equinovarus	HP:0001776
340419	RSPO2	Low-set ears	HP:0000369
340419	RSPO2	Tetraamelia	HP:0003057
340419	RSPO2	Absent thumb	HP:0009777
340419	RSPO2	Hypoplastic scapulae	HP:0000882
340419	RSPO2	Microretrognathia	HP:0000308
340419	RSPO2	Abnormal lung lobation	HP:0002101
340419	RSPO2	Aplasia/Hypoplasia of the nipples	HP:0006709
340419	RSPO2	Micropenis	HP:0000054
340419	RSPO2	Hypoplastic pulmonary veins	HP:0005304
340419	RSPO2	Ankyloglossia	HP:0010296
340419	RSPO2	Microphthalmia	HP:0000568
340419	RSPO2	Agenesis of corpus callosum	HP:0001274
340419	RSPO2	Short clavicles	HP:0000894
4552	MTRR	Megaloblastic anemia	HP:0001889
4552	MTRR	Seizures	HP:0001250
4552	MTRR	Muscular hypotonia	HP:0001252
4552	MTRR	Decreased methionine synthase activity	HP:0003524
4552	MTRR	Failure to thrive	HP:0001508
4552	MTRR	Lethargy	HP:0001254
4552	MTRR	Intellectual disability, progressive	HP:0006887
4552	MTRR	Autosomal recessive inheritance	HP:0000007
4552	MTRR	Cerebral cortical atrophy	HP:0002120
4552	MTRR	Gait disturbance	HP:0001288
4552	MTRR	Infantile onset	HP:0003593
4552	MTRR	Blindness	HP:0000618
4552	MTRR	Hypomethioninemia	HP:0003658
4552	MTRR	Generalized hypotonia	HP:0001290
4552	MTRR	Cerebral atrophy	HP:0002059
4552	MTRR	Homocystinuria	HP:0002156
4552	MTRR	Respiratory insufficiency	HP:0002093
4552	MTRR	Anemia	HP:0001903
4552	MTRR	Global developmental delay	HP:0001263
4552	MTRR	Hyperhomocystinemia	HP:0002160
4552	MTRR	Decreased methylcobalamin	HP:0003223
4552	MTRR	Decreased nerve conduction velocity	HP:0000762
4552	MTRR	Nystagmus	HP:0000639
201163	FLCN	Autosomal dominant inheritance	HP:0000006
201163	FLCN	Generalized hypotonia	HP:0001290
201163	FLCN	Somatic mutation	HP:0001428
201163	FLCN	Abnormality of retinal pigmentation	HP:0007703
201163	FLCN	Pulmonary sequestration	HP:0100632
201163	FLCN	Prominent nasal tip	HP:0005274
201163	FLCN	Wide mouth	HP:0000154
201163	FLCN	Hypermetropia	HP:0000540
201163	FLCN	Language impairment	HP:0002463
201163	FLCN	Hypoplasia of the corpus callosum	HP:0002079
201163	FLCN	Delayed myelination	HP:0012448
201163	FLCN	Echolalia	HP:0010529
201163	FLCN	Sporadic	HP:0003745
201163	FLCN	Dental crowding	HP:0000678
201163	FLCN	Sleep apnea	HP:0010535
201163	FLCN	Feeding difficulties in infancy	HP:0008872
201163	FLCN	Expressive language delay	HP:0002474
201163	FLCN	Mandibular prognathia	HP:0000303
201163	FLCN	Large intestinal polyposis	HP:0030255
201163	FLCN	EEG abnormality	HP:0002353
201163	FLCN	Dental malocclusion	HP:0000689
201163	FLCN	Poor eye contact	HP:0000817
201163	FLCN	Emphysema	HP:0002097
201163	FLCN	Medullary thyroid carcinoma	HP:0002865
201163	FLCN	Abnormal renal morphology	HP:0012210
201163	FLCN	Dysphasia	HP:0002357
201163	FLCN	Hypothyroidism	HP:0000821
201163	FLCN	Abnormality of the pleura	HP:0002103
201163	FLCN	Pneumothorax	HP:0002107
201163	FLCN	Colon cancer	HP:0003003
201163	FLCN	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
201163	FLCN	Hypertelorism	HP:0000316
201163	FLCN	Spontaneous pneumothorax	HP:0002108
201163	FLCN	Smooth philtrum	HP:0000319
201163	FLCN	Cutaneous leiomyoma	HP:0007620
201163	FLCN	Triangular face	HP:0000325
201163	FLCN	Hypocholesterolemia	HP:0003146
201163	FLCN	Uterine leiomyosarcoma	HP:0002891
201163	FLCN	Oral-pharyngeal dysphagia	HP:0200136
201163	FLCN	Autism	HP:0000717
201163	FLCN	Renal cell carcinoma	HP:0005584
201163	FLCN	Broad forehead	HP:0000337
201163	FLCN	Parathyroid adenoma	HP:0002897
201163	FLCN	Transitional cell carcinoma of the bladder	HP:0006740
201163	FLCN	Abnormality of the cardiovascular system	HP:0001626
201163	FLCN	Scoliosis	HP:0002650
201163	FLCN	High palate	HP:0000218
201163	FLCN	Micrognathia	HP:0000347
201163	FLCN	Stereotypy	HP:0000733
201163	FLCN	Neoplasm of the stomach	HP:0006753
201163	FLCN	Papule	HP:0200034
201163	FLCN	Seizures	HP:0001250
201163	FLCN	Short stature	HP:0004322
201163	FLCN	Cutaneous leiomyosarcoma	HP:0006755
201163	FLCN	Sebaceous hyperplasia	HP:0032227
201163	FLCN	Failure to thrive	HP:0001508
201163	FLCN	Gastroesophageal reflux	HP:0002020
201163	FLCN	Trichodiscoma	HP:0032228
201163	FLCN	Fibrofolliculoma	HP:0030436
201163	FLCN	Intellectual disability, mild	HP:0001256
201163	FLCN	Renal cyst	HP:0000107
201163	FLCN	Hearing impairment	HP:0000365
201163	FLCN	Downslanted palpebral fissures	HP:0000494
201163	FLCN	Small for gestational age	HP:0001518
201163	FLCN	Receptive language delay	HP:0010863
201163	FLCN	Global developmental delay	HP:0001263
201163	FLCN	Hyperactivity	HP:0000752
201163	FLCN	Skin tags	HP:0010609
201163	FLCN	Trigonocephaly	HP:0000243
201163	FLCN	Multiple lipomas	HP:0001012
201163	FLCN	Incomplete penetrance	HP:0003829
201163	FLCN	Patent foramen ovale	HP:0001655
201163	FLCN	Microcephaly	HP:0000252
201163	FLCN	Renal neoplasm	HP:0009726
4556	TRNE	Ragged-red muscle fibers	HP:0003200
4556	TRNE	Sternocleidomastoid amyotrophy	HP:0012036
4556	TRNE	Cataract	HP:0000518
4556	TRNE	Generalized hypotonia	HP:0001290
4556	TRNE	Schizophrenia	HP:0100753
4556	TRNE	Delayed gross motor development	HP:0002194
4556	TRNE	Decreased activity of mitochondrial complex I	HP:0011923
4556	TRNE	Abnormal chorioretinal morphology	HP:0000532
4556	TRNE	Peripheral axonal neuropathy	HP:0003477
4556	TRNE	Sensorineural hearing impairment	HP:0000407
4556	TRNE	Progressive cerebellar ataxia	HP:0002073
4556	TRNE	Delirium	HP:0031258
4556	TRNE	Arrhythmia	HP:0011675
4556	TRNE	Macroglossia	HP:0000158
4556	TRNE	Babinski sign	HP:0003487
4556	TRNE	External ophthalmoplegia	HP:0000544
4556	TRNE	Decreased plasma carnitine	HP:0003234
4556	TRNE	Severe lactic acidosis	HP:0004900
4556	TRNE	Pelvic girdle muscle weakness	HP:0003749
4556	TRNE	Intellectual disability, moderate	HP:0002342
4556	TRNE	Neonatal hypotonia	HP:0001319
4556	TRNE	Type I diabetes mellitus	HP:0100651
4556	TRNE	Skeletal myopathy	HP:0003756
4556	TRNE	Muscle weakness	HP:0001324
4556	TRNE	Abnormal circulating lipid concentration	HP:0003119
4556	TRNE	Respiratory distress	HP:0002098
4556	TRNE	Hypertension	HP:0000822
4556	TRNE	Frequent falls	HP:0002359
4556	TRNE	Ventilator dependence with inability to wean	HP:0005946
4556	TRNE	Impaired vibratory sensation	HP:0002495
4556	TRNE	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4556	TRNE	Hepatomegaly	HP:0002240
4556	TRNE	Macular dystrophy	HP:0007754
4556	TRNE	Nasogastric tube feeding in infancy	HP:0011470
4556	TRNE	Renal insufficiency	HP:0000083
4556	TRNE	Glomerulopathy	HP:0100820
4556	TRNE	Difficulty running	HP:0009046
4556	TRNE	Dementia	HP:0000726
4556	TRNE	Proximal amyotrophy	HP:0007126
4556	TRNE	Exercise intolerance	HP:0003546
4556	TRNE	Type II diabetes mellitus	HP:0005978
4556	TRNE	Abnormality of the cardiovascular system	HP:0001626
4556	TRNE	High palate	HP:0000218
4556	TRNE	Shoulder girdle muscle weakness	HP:0003547
4556	TRNE	Lower limb hyperreflexia	HP:0002395
4556	TRNE	Weakness of orbicularis oculi muscle	HP:0012507
4556	TRNE	Increased muscle glycogen content	HP:0009051
4556	TRNE	Proteinuria	HP:0000093
4556	TRNE	Difficulty climbing stairs	HP:0003551
4556	TRNE	Increased muscle lipid content	HP:0009058
4556	TRNE	Tip-toe gait	HP:0030051
4556	TRNE	Constipation	HP:0002019
4556	TRNE	Congestive heart failure	HP:0001635
4556	TRNE	Ataxia	HP:0001251
4556	TRNE	Hyporeflexia of upper limbs	HP:0012391
4556	TRNE	Hypertrophic cardiomyopathy	HP:0001639
4556	TRNE	Malabsorption	HP:0002024
4556	TRNE	Retinopathy	HP:0000488
4556	TRNE	Cytochrome C oxidase-negative muscle fibers	HP:0003688
4556	TRNE	Achilles tendon contracture	HP:0001771
4556	TRNE	Inability to walk	HP:0002540
4556	TRNE	Dysarthria	HP:0001260
4556	TRNE	Distal lower limb amyotrophy	HP:0008944
4556	TRNE	Progressive proximal muscle weakness	HP:0009073
4556	TRNE	Hyporeflexia	HP:0001265
4556	TRNE	Poor suck	HP:0002033
4556	TRNE	Mildly elevated creatine kinase	HP:0008180
4556	TRNE	Visual impairment	HP:0000505
4556	TRNE	Myalgia	HP:0003326
4556	TRNE	Myopathy	HP:0003198
4558	TRNF	Death in early adulthood	HP:0100613
4558	TRNF	Cataract	HP:0000518
4558	TRNF	Developmental cataract	HP:0000519
4558	TRNF	Episodic vomiting	HP:0002572
4558	TRNF	Primary adrenal insufficiency	HP:0008207
4558	TRNF	Encephalopathy	HP:0001298
4558	TRNF	Gastroparesis	HP:0002578
4558	TRNF	Reduced consciousness/confusion	HP:0004372
4558	TRNF	Generalized tonic-clonic seizures	HP:0002069
4558	TRNF	Abnormality of retinal pigmentation	HP:0007703
4558	TRNF	Migraine	HP:0002076
4558	TRNF	Hypopigmented skin patches	HP:0001053
4558	TRNF	Reduced tendon reflexes	HP:0001315
4558	TRNF	Thyroiditis	HP:0100646
4558	TRNF	Left ventricular dysfunction	HP:0005162
4558	TRNF	Type I diabetes mellitus	HP:0100651
4558	TRNF	Mask-like facies	HP:0000298
4558	TRNF	Muscle weakness	HP:0001324
4558	TRNF	Pulmonary arterial hypertension	HP:0002092
4558	TRNF	Respiratory insufficiency	HP:0002093
4558	TRNF	EEG abnormality	HP:0002353
4558	TRNF	Memory impairment	HP:0002354
4558	TRNF	Diabetes mellitus	HP:0000819
4558	TRNF	Dystonia	HP:0001332
4558	TRNF	Hypothyroidism	HP:0000821
4558	TRNF	Hypertension	HP:0000822
4558	TRNF	Delayed puberty	HP:0000823
4558	TRNF	Lactic acidosis	HP:0003128
4558	TRNF	Myoclonus	HP:0001336
4558	TRNF	Apnea	HP:0002104
4558	TRNF	Tremor	HP:0001337
4558	TRNF	Hypertelorism	HP:0000316
4558	TRNF	Hypoparathyroidism	HP:0000829
4558	TRNF	Anterior hypopituitarism	HP:0000830
4558	TRNF	Hyperthyroidism	HP:0000836
4558	TRNF	Ventriculomegaly	HP:0002119
4558	TRNF	Developmental regression	HP:0002376
4558	TRNF	Cerebral cortical atrophy	HP:0002120
4558	TRNF	Paresthesia	HP:0003401
4558	TRNF	Generalized myoclonic seizures	HP:0002123
4558	TRNF	Aphasia	HP:0002381
4558	TRNF	Cerebral ischemia	HP:0002637
4558	TRNF	Aortic aneurysm	HP:0004942
4558	TRNF	Abnormal macular morphology	HP:0001103
4558	TRNF	Renal insufficiency	HP:0000083
4558	TRNF	Ophthalmoparesis	HP:0000597
4558	TRNF	Goiter	HP:0000853
4558	TRNF	Aortic dissection	HP:0002647
4558	TRNF	Hemianopia	HP:0012377
4558	TRNF	Ophthalmoplegia	HP:0000602
4558	TRNF	Type II diabetes mellitus	HP:0005978
4558	TRNF	Fatigue	HP:0012378
4558	TRNF	Proteinuria	HP:0000093
4558	TRNF	Intestinal obstruction	HP:0005214
4558	TRNF	Stroke-like episode	HP:0002401
4558	TRNF	Cerebral visual impairment	HP:0100704
4558	TRNF	Congestive heart failure	HP:0001635
4558	TRNF	Nephrotic syndrome	HP:0000100
4558	TRNF	Hypercalciuria	HP:0002150
4558	TRNF	Increased serum lactate	HP:0002151
4558	TRNF	Hypertrophic cardiomyopathy	HP:0001639
4558	TRNF	Attention deficit hyperactivity disorder	HP:0007018
4558	TRNF	Sudden cardiac death	HP:0001645
4558	TRNF	Clonus	HP:0002169
4558	TRNF	Myopathy	HP:0003198
4558	TRNF	Ragged-red muscle fibers	HP:0003200
4558	TRNF	Ichthyosis	HP:0008064
4558	TRNF	EMG abnormality	HP:0003457
4558	TRNF	Skeletal muscle atrophy	HP:0003202
4558	TRNF	Optic atrophy	HP:0000648
4558	TRNF	Abnormality of visual evoked potentials	HP:0000649
4558	TRNF	Mitochondrial inheritance	HP:0001427
4558	TRNF	Nyctalopia	HP:0000662
4558	TRNF	Sensorineural hearing impairment	HP:0000407
4558	TRNF	Progressive sensorineural hearing impairment	HP:0000408
4558	TRNF	Mitochondrial myopathy	HP:0003737
4558	TRNF	Fever	HP:0001945
4558	TRNF	Protruding ear	HP:0000411
4558	TRNF	Pulmonary embolism	HP:0002204
4558	TRNF	Carious teeth	HP:0000670
4558	TRNF	Elevated serum creatine kinase	HP:0003236
4558	TRNF	Feeding difficulties in infancy	HP:0008872
4558	TRNF	Bilateral sensorineural hearing impairment	HP:0008619
4558	TRNF	Left ventricular hypertrophy	HP:0001712
4558	TRNF	Tubulointerstitial abnormality	HP:0001969
4558	TRNF	Heart block	HP:0012722
4558	TRNF	Wolff-Parkinson-White syndrome	HP:0001716
4558	TRNF	Generalized hirsutism	HP:0002230
4558	TRNF	Abnormality of movement	HP:0100022
4558	TRNF	Cognitive impairment	HP:0100543
4558	TRNF	Delayed skeletal maturation	HP:0002750
4558	TRNF	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4558	TRNF	Pancreatitis	HP:0001733
4558	TRNF	Depressivity	HP:0000716
4558	TRNF	Autism	HP:0000717
4558	TRNF	Cerebral calcification	HP:0002514
4558	TRNF	Gingival overgrowth	HP:0000212
4558	TRNF	Glomerulopathy	HP:0100820
4558	TRNF	Psychotic episodes	HP:0000725
4558	TRNF	Dementia	HP:0000726
4558	TRNF	Increased serum pyruvate	HP:0003542
4558	TRNF	Abnormality of mitochondrial metabolism	HP:0003287
4558	TRNF	Abnormality of neuronal migration	HP:0002269
4558	TRNF	Amaurosis fugax	HP:0100576
4558	TRNF	Nausea and vomiting	HP:0002017
4558	TRNF	Short stature	HP:0004322
4558	TRNF	Seizures	HP:0001250
4558	TRNF	Hallucinations	HP:0000738
4558	TRNF	Growth abnormality	HP:0001507
4558	TRNF	Ataxia	HP:0001251
4558	TRNF	Constipation	HP:0002019
4558	TRNF	Anxiety	HP:0000739
4558	TRNF	Muscular hypotonia	HP:0001252
4558	TRNF	Cachexia	HP:0004326
4558	TRNF	Malabsorption	HP:0002024
4558	TRNF	Spasticity	HP:0001257
4558	TRNF	Abdominal pain	HP:0002027
4558	TRNF	Dysarthria	HP:0001260
4558	TRNF	Variable expressivity	HP:0003828
4558	TRNF	Multiple lipomas	HP:0001012
4558	TRNF	Arthrogryposis multiplex congenita	HP:0002804
4558	TRNF	Hemiparesis	HP:0001269
4558	TRNF	Anorexia	HP:0002039
4558	TRNF	Decreased nerve conduction velocity	HP:0000762
4558	TRNF	Spontaneous hematomas	HP:0007420
4558	TRNF	Microcephaly	HP:0000252
4558	TRNF	Ptosis	HP:0000508
4558	TRNF	Myalgia	HP:0003326
4564	TRNH	Death in early adulthood	HP:0100613
4564	TRNH	Cataract	HP:0000518
4564	TRNH	Primary adrenal insufficiency	HP:0008207
4564	TRNH	Gastroparesis	HP:0002578
4564	TRNH	Reduced consciousness/confusion	HP:0004372
4564	TRNH	Generalized tonic-clonic seizures	HP:0002069
4564	TRNH	Abnormality of retinal pigmentation	HP:0007703
4564	TRNH	Migraine	HP:0002076
4564	TRNH	Hypopigmented skin patches	HP:0001053
4564	TRNH	Reduced tendon reflexes	HP:0001315
4564	TRNH	Thyroiditis	HP:0100646
4564	TRNH	Type I diabetes mellitus	HP:0100651
4564	TRNH	Mask-like facies	HP:0000298
4564	TRNH	Pulmonary arterial hypertension	HP:0002092
4564	TRNH	Muscle weakness	HP:0001324
4564	TRNH	Respiratory insufficiency	HP:0002093
4564	TRNH	EEG abnormality	HP:0002353
4564	TRNH	Memory impairment	HP:0002354
4564	TRNH	Dystonia	HP:0001332
4564	TRNH	Hypothyroidism	HP:0000821
4564	TRNH	Hypertension	HP:0000822
4564	TRNH	Delayed puberty	HP:0000823
4564	TRNH	Lactic acidosis	HP:0003128
4564	TRNH	Apnea	HP:0002104
4564	TRNH	Tremor	HP:0001337
4564	TRNH	Hypertelorism	HP:0000316
4564	TRNH	Hypoparathyroidism	HP:0000829
4564	TRNH	Anterior hypopituitarism	HP:0000830
4564	TRNH	Hyperthyroidism	HP:0000836
4564	TRNH	Ventriculomegaly	HP:0002119
4564	TRNH	Developmental regression	HP:0002376
4564	TRNH	Cerebral cortical atrophy	HP:0002120
4564	TRNH	Paresthesia	HP:0003401
4564	TRNH	Generalized myoclonic seizures	HP:0002123
4564	TRNH	Aphasia	HP:0002381
4564	TRNH	Cerebral ischemia	HP:0002637
4564	TRNH	Aortic aneurysm	HP:0004942
4564	TRNH	Abnormal macular morphology	HP:0001103
4564	TRNH	Renal insufficiency	HP:0000083
4564	TRNH	Ophthalmoparesis	HP:0000597
4564	TRNH	Goiter	HP:0000853
4564	TRNH	Aortic dissection	HP:0002647
4564	TRNH	Hemianopia	HP:0012377
4564	TRNH	Type II diabetes mellitus	HP:0005978
4564	TRNH	Fatigue	HP:0012378
4564	TRNH	Proteinuria	HP:0000093
4564	TRNH	Intestinal obstruction	HP:0005214
4564	TRNH	Stroke-like episode	HP:0002401
4564	TRNH	Congestive heart failure	HP:0001635
4564	TRNH	Nephrotic syndrome	HP:0000100
4564	TRNH	Hypercalciuria	HP:0002150
4564	TRNH	Hypertrophic cardiomyopathy	HP:0001639
4564	TRNH	Increased serum lactate	HP:0002151
4564	TRNH	Attention deficit hyperactivity disorder	HP:0007018
4564	TRNH	Sudden cardiac death	HP:0001645
4564	TRNH	Clonus	HP:0002169
4564	TRNH	Myopathy	HP:0003198
4564	TRNH	Ragged-red muscle fibers	HP:0003200
4564	TRNH	Ichthyosis	HP:0008064
4564	TRNH	EMG abnormality	HP:0003457
4564	TRNH	Skeletal muscle atrophy	HP:0003202
4564	TRNH	Optic atrophy	HP:0000648
4564	TRNH	Abnormality of visual evoked potentials	HP:0000649
4564	TRNH	Nyctalopia	HP:0000662
4564	TRNH	Sensorineural hearing impairment	HP:0000407
4564	TRNH	Fever	HP:0001945
4564	TRNH	Mitochondrial myopathy	HP:0003737
4564	TRNH	Protruding ear	HP:0000411
4564	TRNH	Pulmonary embolism	HP:0002204
4564	TRNH	Carious teeth	HP:0000670
4564	TRNH	Elevated serum creatine kinase	HP:0003236
4564	TRNH	Feeding difficulties in infancy	HP:0008872
4564	TRNH	Tubulointerstitial abnormality	HP:0001969
4564	TRNH	Heart block	HP:0012722
4564	TRNH	Wolff-Parkinson-White syndrome	HP:0001716
4564	TRNH	Generalized hirsutism	HP:0002230
4564	TRNH	Abnormality of movement	HP:0100022
4564	TRNH	Cognitive impairment	HP:0100543
4564	TRNH	Delayed skeletal maturation	HP:0002750
4564	TRNH	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4564	TRNH	Pancreatitis	HP:0001733
4564	TRNH	Depressivity	HP:0000716
4564	TRNH	Autism	HP:0000717
4564	TRNH	Cerebral calcification	HP:0002514
4564	TRNH	Gingival overgrowth	HP:0000212
4564	TRNH	Glomerulopathy	HP:0100820
4564	TRNH	Psychotic episodes	HP:0000725
4564	TRNH	Abnormality of mitochondrial metabolism	HP:0003287
4564	TRNH	Abnormality of neuronal migration	HP:0002269
4564	TRNH	Amaurosis fugax	HP:0100576
4564	TRNH	Nausea and vomiting	HP:0002017
4564	TRNH	Short stature	HP:0004322
4564	TRNH	Hallucinations	HP:0000738
4564	TRNH	Ataxia	HP:0001251
4564	TRNH	Constipation	HP:0002019
4564	TRNH	Anxiety	HP:0000739
4564	TRNH	Muscular hypotonia	HP:0001252
4564	TRNH	Cachexia	HP:0004326
4564	TRNH	Malabsorption	HP:0002024
4564	TRNH	Abdominal pain	HP:0002027
4564	TRNH	Dysarthria	HP:0001260
4564	TRNH	Multiple lipomas	HP:0001012
4564	TRNH	Arthrogryposis multiplex congenita	HP:0002804
4564	TRNH	Anorexia	HP:0002039
4564	TRNH	Decreased nerve conduction velocity	HP:0000762
4564	TRNH	Spontaneous hematomas	HP:0007420
4564	TRNH	Microcephaly	HP:0000252
4564	TRNH	Ptosis	HP:0000508
4564	TRNH	Myalgia	HP:0003326
4565	TRNI	Ragged-red muscle fibers	HP:0003200
4565	TRNI	Seizures	HP:0001250
4565	TRNI	Mitochondrial inheritance	HP:0001427
4565	TRNI	Ataxia	HP:0001251
4565	TRNI	Increased serum pyruvate	HP:0003542
4565	TRNI	Sensorineural hearing impairment	HP:0000407
4565	TRNI	Increased serum lactate	HP:0002151
4565	TRNI	Myoclonus	HP:0001336
4565	TRNI	Spasticity	HP:0001257
4565	TRNI	Generalized myoclonic seizures	HP:0002123
4565	TRNI	Muscle weakness	HP:0001324
4565	TRNI	Myopathy	HP:0003198
4566	TRNK	Ragged-red muscle fibers	HP:0003200
4566	TRNK	EMG abnormality	HP:0003457
4566	TRNK	Cataract	HP:0000518
4566	TRNK	Developmental cataract	HP:0000519
4566	TRNK	Gait disturbance	HP:0001288
4566	TRNK	Optic atrophy	HP:0000648
4566	TRNK	Episodic vomiting	HP:0002572
4566	TRNK	Chest pain	HP:0100749
4566	TRNK	Encephalopathy	HP:0001298
4566	TRNK	Mitochondrial inheritance	HP:0001427
4566	TRNK	Abnormal chorioretinal morphology	HP:0000532
4566	TRNK	Generalized tonic-clonic seizures	HP:0002069
4566	TRNK	Sensorineural hearing impairment	HP:0000407
4566	TRNK	Progressive sensorineural hearing impairment	HP:0000408
4566	TRNK	Mitochondrial myopathy	HP:0003737
4566	TRNK	Arrhythmia	HP:0011675
4566	TRNK	Migraine	HP:0002076
4566	TRNK	External ophthalmoplegia	HP:0000544
4566	TRNK	Increased adipose tissue	HP:0009126
4566	TRNK	Left ventricular dysfunction	HP:0005162
4566	TRNK	Bilateral sensorineural hearing impairment	HP:0008619
4566	TRNK	Muscle weakness	HP:0001324
4566	TRNK	Dyspnea	HP:0002094
4566	TRNK	Abnormal circulating lipid concentration	HP:0003119
4566	TRNK	Left ventricular hypertrophy	HP:0001712
4566	TRNK	Diabetes mellitus	HP:0000819
4566	TRNK	Wolff-Parkinson-White syndrome	HP:0001716
4566	TRNK	Hypertension	HP:0000822
4566	TRNK	Abnormality of movement	HP:0100022
4566	TRNK	Lactic acidosis	HP:0003128
4566	TRNK	Myoclonus	HP:0001336
4566	TRNK	Cognitive impairment	HP:0100543
4566	TRNK	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4566	TRNK	Hyperreflexia	HP:0001347
4566	TRNK	Febrile seizures	HP:0002373
4566	TRNK	Slurred speech	HP:0001350
4566	TRNK	Macular dystrophy	HP:0007754
4566	TRNK	Generalized myoclonic seizures	HP:0002123
4566	TRNK	Progressive external ophthalmoplegia	HP:0000590
4566	TRNK	Mild global developmental delay	HP:0011342
4566	TRNK	Renal insufficiency	HP:0000083
4566	TRNK	Glomerulopathy	HP:0100820
4566	TRNK	Dementia	HP:0000726
4566	TRNK	Increased serum pyruvate	HP:0003542
4566	TRNK	Hemianopia	HP:0012377
4566	TRNK	Ophthalmoplegia	HP:0000602
4566	TRNK	Exercise intolerance	HP:0003546
4566	TRNK	Fatigue	HP:0012378
4566	TRNK	Type II diabetes mellitus	HP:0005978
4566	TRNK	Proteinuria	HP:0000093
4566	TRNK	Stroke-like episode	HP:0002401
4566	TRNK	Cerebral visual impairment	HP:0100704
4566	TRNK	Lower limb pain	HP:0012514
4566	TRNK	Short stature	HP:0004322
4566	TRNK	Seizures	HP:0001250
4566	TRNK	Growth abnormality	HP:0001507
4566	TRNK	Congestive heart failure	HP:0001635
4566	TRNK	Ataxia	HP:0001251
4566	TRNK	Constipation	HP:0002019
4566	TRNK	Peripheral neuropathy	HP:0009830
4566	TRNK	Increased serum lactate	HP:0002151
4566	TRNK	Hypertrophic cardiomyopathy	HP:0001639
4566	TRNK	Malabsorption	HP:0002024
4566	TRNK	Retinopathy	HP:0000488
4566	TRNK	Spasticity	HP:0001257
4566	TRNK	Dilated cardiomyopathy	HP:0001644
4566	TRNK	Variable expressivity	HP:0003828
4566	TRNK	Multiple lipomas	HP:0001012
4566	TRNK	Mental deterioration	HP:0001268
4566	TRNK	Hemiparesis	HP:0001269
4566	TRNK	Visual impairment	HP:0000505
4566	TRNK	Myopathy	HP:0003198
4566	TRNK	Myalgia	HP:0003326
4567	TRNL1	Death in early adulthood	HP:0100613
4567	TRNL1	Cataract	HP:0000518
4567	TRNL1	Developmental cataract	HP:0000519
4567	TRNL1	Episodic vomiting	HP:0002572
4567	TRNL1	Progressive intervertebral space narrowing	HP:0004622
4567	TRNL1	Primary adrenal insufficiency	HP:0008207
4567	TRNL1	Encephalopathy	HP:0001298
4567	TRNL1	Gastroparesis	HP:0002578
4567	TRNL1	Abnormal chorioretinal morphology	HP:0000532
4567	TRNL1	Reduced consciousness/confusion	HP:0004372
4567	TRNL1	Generalized tonic-clonic seizures	HP:0002069
4567	TRNL1	Hemiplegia/hemiparesis	HP:0004374
4567	TRNL1	Abnormality of retinal pigmentation	HP:0007703
4567	TRNL1	Migraine	HP:0002076
4567	TRNL1	Hypopigmented skin patches	HP:0001053
4567	TRNL1	External ophthalmoplegia	HP:0000544
4567	TRNL1	Reduced tendon reflexes	HP:0001315
4567	TRNL1	Thyroiditis	HP:0100646
4567	TRNL1	Left ventricular dysfunction	HP:0005162
4567	TRNL1	Type I diabetes mellitus	HP:0100651
4567	TRNL1	Mask-like facies	HP:0000298
4567	TRNL1	Muscle weakness	HP:0001324
4567	TRNL1	Pulmonary arterial hypertension	HP:0002092
4567	TRNL1	Respiratory insufficiency	HP:0002093
4567	TRNL1	Abnormal circulating lipid concentration	HP:0003119
4567	TRNL1	EEG abnormality	HP:0002353
4567	TRNL1	Memory impairment	HP:0002354
4567	TRNL1	Diabetes mellitus	HP:0000819
4567	TRNL1	Dystonia	HP:0001332
4567	TRNL1	Hypothyroidism	HP:0000821
4567	TRNL1	Hypertension	HP:0000822
4567	TRNL1	Delayed puberty	HP:0000823
4567	TRNL1	Lactic acidosis	HP:0003128
4567	TRNL1	Myoclonus	HP:0001336
4567	TRNL1	Apnea	HP:0002104
4567	TRNL1	Tremor	HP:0001337
4567	TRNL1	Hypertelorism	HP:0000316
4567	TRNL1	Hypoparathyroidism	HP:0000829
4567	TRNL1	Anterior hypopituitarism	HP:0000830
4567	TRNL1	Restrictive deficit on pulmonary function testing	HP:0002111
4567	TRNL1	Brisk reflexes	HP:0001348
4567	TRNL1	Hyperthyroidism	HP:0000836
4567	TRNL1	Ventriculomegaly	HP:0002119
4567	TRNL1	Developmental regression	HP:0002376
4567	TRNL1	Cerebral cortical atrophy	HP:0002120
4567	TRNL1	Paresthesia	HP:0003401
4567	TRNL1	Macular dystrophy	HP:0007754
4567	TRNL1	Generalized myoclonic seizures	HP:0002123
4567	TRNL1	Aphasia	HP:0002381
4567	TRNL1	Cerebral ischemia	HP:0002637
4567	TRNL1	Progressive external ophthalmoplegia	HP:0000590
4567	TRNL1	Aortic aneurysm	HP:0004942
4567	TRNL1	Abnormal macular morphology	HP:0001103
4567	TRNL1	Renal insufficiency	HP:0000083
4567	TRNL1	Ophthalmoparesis	HP:0000597
4567	TRNL1	Goiter	HP:0000853
4567	TRNL1	Aortic dissection	HP:0002647
4567	TRNL1	Hemianopia	HP:0012377
4567	TRNL1	Ophthalmoplegia	HP:0000602
4567	TRNL1	Type II diabetes mellitus	HP:0005978
4567	TRNL1	Fatigue	HP:0012378
4567	TRNL1	Proteinuria	HP:0000093
4567	TRNL1	Intestinal obstruction	HP:0005214
4567	TRNL1	Stroke-like episode	HP:0002401
4567	TRNL1	Cerebral visual impairment	HP:0100704
4567	TRNL1	Congestive heart failure	HP:0001635
4567	TRNL1	Nephrotic syndrome	HP:0000100
4567	TRNL1	Hypercalciuria	HP:0002150
4567	TRNL1	Hypertrophic cardiomyopathy	HP:0001639
4567	TRNL1	Increased serum lactate	HP:0002151
4567	TRNL1	Attention deficit hyperactivity disorder	HP:0007018
4567	TRNL1	Sudden cardiac death	HP:0001645
4567	TRNL1	Hearing impairment	HP:0000365
4567	TRNL1	Progressive proximal muscle weakness	HP:0009073
4567	TRNL1	Clonus	HP:0002169
4567	TRNL1	Abnormal mitochondria in muscle tissue	HP:0008316
4567	TRNL1	Myopathy	HP:0003198
4567	TRNL1	Ragged-red muscle fibers	HP:0003200
4567	TRNL1	Ichthyosis	HP:0008064
4567	TRNL1	EMG abnormality	HP:0003457
4567	TRNL1	Skeletal muscle atrophy	HP:0003202
4567	TRNL1	Optic atrophy	HP:0000648
4567	TRNL1	Abnormality of visual evoked potentials	HP:0000649
4567	TRNL1	Mitochondrial inheritance	HP:0001427
4567	TRNL1	Nyctalopia	HP:0000662
4567	TRNL1	Sensorineural hearing impairment	HP:0000407
4567	TRNL1	Progressive sensorineural hearing impairment	HP:0000408
4567	TRNL1	Mitochondrial myopathy	HP:0003737
4567	TRNL1	Fever	HP:0001945
4567	TRNL1	Arrhythmia	HP:0011675
4567	TRNL1	Protruding ear	HP:0000411
4567	TRNL1	Pulmonary embolism	HP:0002204
4567	TRNL1	Carious teeth	HP:0000670
4567	TRNL1	Elevated serum creatine kinase	HP:0003236
4567	TRNL1	Feeding difficulties in infancy	HP:0008872
4567	TRNL1	Bilateral sensorineural hearing impairment	HP:0008619
4567	TRNL1	Third degree atrioventricular block	HP:0001709
4567	TRNL1	Left ventricular hypertrophy	HP:0001712
4567	TRNL1	Tubulointerstitial abnormality	HP:0001969
4567	TRNL1	Heart block	HP:0012722
4567	TRNL1	Wolff-Parkinson-White syndrome	HP:0001716
4567	TRNL1	Generalized hirsutism	HP:0002230
4567	TRNL1	Abnormality of movement	HP:0100022
4567	TRNL1	Respiratory insufficiency due to muscle weakness	HP:0002747
4567	TRNL1	Cognitive impairment	HP:0100543
4567	TRNL1	Delayed skeletal maturation	HP:0002750
4567	TRNL1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4567	TRNL1	Pancreatitis	HP:0001733
4567	TRNL1	Depressivity	HP:0000716
4567	TRNL1	Autism	HP:0000717
4567	TRNL1	Cerebral calcification	HP:0002514
4567	TRNL1	Gingival overgrowth	HP:0000212
4567	TRNL1	Glomerulopathy	HP:0100820
4567	TRNL1	Psychotic episodes	HP:0000725
4567	TRNL1	Dementia	HP:0000726
4567	TRNL1	Increased serum pyruvate	HP:0003542
4567	TRNL1	Abnormality of mitochondrial metabolism	HP:0003287
4567	TRNL1	Muscle abnormality related to mitochondrial dysfunction	HP:0003800
4567	TRNL1	Abnormality of neuronal migration	HP:0002269
4567	TRNL1	Amaurosis fugax	HP:0100576
4567	TRNL1	Nausea and vomiting	HP:0002017
4567	TRNL1	Short stature	HP:0004322
4567	TRNL1	Seizures	HP:0001250
4567	TRNL1	Hallucinations	HP:0000738
4567	TRNL1	Growth abnormality	HP:0001507
4567	TRNL1	Constipation	HP:0002019
4567	TRNL1	Ataxia	HP:0001251
4567	TRNL1	Anxiety	HP:0000739
4567	TRNL1	Muscular hypotonia	HP:0001252
4567	TRNL1	Cachexia	HP:0004326
4567	TRNL1	Malabsorption	HP:0002024
4567	TRNL1	Retinopathy	HP:0000488
4567	TRNL1	Intellectual disability, mild	HP:0001256
4567	TRNL1	Spasticity	HP:0001257
4567	TRNL1	Abdominal pain	HP:0002027
4567	TRNL1	Dysarthria	HP:0001260
4567	TRNL1	Variable expressivity	HP:0003828
4567	TRNL1	Multiple lipomas	HP:0001012
4567	TRNL1	Mildly elevated creatine kinase	HP:0008180
4567	TRNL1	Arthrogryposis multiplex congenita	HP:0002804
4567	TRNL1	Hemiparesis	HP:0001269
4567	TRNL1	Anorexia	HP:0002039
4567	TRNL1	Visual impairment	HP:0000505
4567	TRNL1	Decreased nerve conduction velocity	HP:0000762
4567	TRNL1	Ptosis	HP:0000508
4567	TRNL1	Spontaneous hematomas	HP:0007420
4567	TRNL1	Microcephaly	HP:0000252
4567	TRNL1	Myalgia	HP:0003326
4567	TRNL1	Axial muscle weakness	HP:0003327
4568	TRNL2	Ragged-red muscle fibers	HP:0003200
4568	TRNL2	EMG abnormality	HP:0003457
4568	TRNL2	Brisk reflexes	HP:0001348
4568	TRNL2	Increased serum lactate	HP:0002151
4568	TRNL2	Intellectual disability, mild	HP:0001256
4568	TRNL2	Depressivity	HP:0000716
4568	TRNL2	Progressive external ophthalmoplegia	HP:0000590
4568	TRNL2	Progressive proximal muscle weakness	HP:0009073
4568	TRNL2	Mildly elevated creatine kinase	HP:0008180
4568	TRNL2	Hypothyroidism	HP:0000821
4568	TRNL2	Muscle abnormality related to mitochondrial dysfunction	HP:0003800
4568	TRNL2	Respiratory insufficiency due to muscle weakness	HP:0002747
4568	TRNL2	Abnormal mitochondria in muscle tissue	HP:0008316
4568	TRNL2	Ptosis	HP:0000508
4568	TRNL2	Axial muscle weakness	HP:0003327
4568	TRNL2	Restrictive deficit on pulmonary function testing	HP:0002111
4570	TRNN	Ragged-red muscle fibers	HP:0003200
4570	TRNN	EMG abnormality	HP:0003457
4570	TRNN	Decreased liver function	HP:0001410
4570	TRNN	Glycosuria	HP:0003076
4570	TRNN	Autosomal recessive inheritance	HP:0000007
4570	TRNN	Optic atrophy	HP:0000648
4570	TRNN	Generalized hypotonia	HP:0001290
4570	TRNN	Heterogeneous	HP:0001425
4570	TRNN	Mitochondrial inheritance	HP:0001427
4570	TRNN	Sensorineural hearing impairment	HP:0000407
4570	TRNN	Aminoaciduria	HP:0003355
4570	TRNN	Increased hepatocellular lipid droplets	HP:0006565
4570	TRNN	Hyperphosphaturia	HP:0003109
4570	TRNN	Leukoencephalopathy	HP:0002352
4570	TRNN	Respiratory distress	HP:0002098
4570	TRNN	Hypothyroidism	HP:0000821
4570	TRNN	Lactic acidosis	HP:0003128
4570	TRNN	Increased CSF lactate	HP:0002490
4570	TRNN	Respiratory insufficiency due to muscle weakness	HP:0002747
4570	TRNN	Exertional dyspnea	HP:0002875
4570	TRNN	Restrictive deficit on pulmonary function testing	HP:0002111
4570	TRNN	Hepatomegaly	HP:0002240
4570	TRNN	Brisk reflexes	HP:0001348
4570	TRNN	Pigmentary retinopathy	HP:0000580
4570	TRNN	Renal Fanconi syndrome	HP:0001994
4570	TRNN	Depressivity	HP:0000716
4570	TRNN	Progressive external ophthalmoplegia	HP:0000590
4570	TRNN	Increased intramyocellular lipid droplets	HP:0012240
4570	TRNN	Muscle abnormality related to mitochondrial dysfunction	HP:0003800
4570	TRNN	Exercise intolerance	HP:0003546
4570	TRNN	Proteinuria	HP:0000093
4570	TRNN	Intellectual disability	HP:0001249
4570	TRNN	Seizures	HP:0001250
4570	TRNN	Ataxia	HP:0001251
4570	TRNN	Failure to thrive	HP:0001508
4570	TRNN	Muscular hypotonia	HP:0001252
4570	TRNN	Increased serum lactate	HP:0002151
4570	TRNN	Hypertrophic cardiomyopathy	HP:0001639
4570	TRNN	Intellectual disability, mild	HP:0001256
4570	TRNN	Cytochrome C oxidase-negative muscle fibers	HP:0003688
4570	TRNN	Global developmental delay	HP:0001263
4570	TRNN	Anemia	HP:0001903
4570	TRNN	Progressive proximal muscle weakness	HP:0009073
4570	TRNN	Mildly elevated creatine kinase	HP:0008180
4570	TRNN	Motor delay	HP:0001270
4570	TRNN	Abnormal mitochondria in muscle tissue	HP:0008316
4570	TRNN	Ptosis	HP:0000508
4570	TRNN	Renal tubular dysfunction	HP:0000124
4570	TRNN	Axial muscle weakness	HP:0003327
4571	TRNP	Ragged-red muscle fibers	HP:0003200
4571	TRNP	EMG abnormality	HP:0003457
4571	TRNP	Short stature	HP:0004322
4571	TRNP	Seizures	HP:0001250
4571	TRNP	Ataxia	HP:0001251
4571	TRNP	Increased serum lactate	HP:0002151
4571	TRNP	Optic atrophy	HP:0000648
4571	TRNP	Spasticity	HP:0001257
4571	TRNP	Generalized myoclonic seizures	HP:0002123
4571	TRNP	Muscle weakness	HP:0001324
4571	TRNP	Mitochondrial inheritance	HP:0001427
4571	TRNP	Multiple lipomas	HP:0001012
4571	TRNP	Increased serum pyruvate	HP:0003542
4571	TRNP	Sensorineural hearing impairment	HP:0000407
4571	TRNP	Abnormality of movement	HP:0100022
4571	TRNP	Myoclonus	HP:0001336
4571	TRNP	Cognitive impairment	HP:0100543
4571	TRNP	Myopathy	HP:0003198
4572	TRNQ	Death in early adulthood	HP:0100613
4572	TRNQ	Cataract	HP:0000518
4572	TRNQ	Developmental cataract	HP:0000519
4572	TRNQ	Episodic vomiting	HP:0002572
4572	TRNQ	Primary adrenal insufficiency	HP:0008207
4572	TRNQ	Encephalopathy	HP:0001298
4572	TRNQ	Gastroparesis	HP:0002578
4572	TRNQ	Reduced consciousness/confusion	HP:0004372
4572	TRNQ	Generalized tonic-clonic seizures	HP:0002069
4572	TRNQ	Abnormality of retinal pigmentation	HP:0007703
4572	TRNQ	Migraine	HP:0002076
4572	TRNQ	Hypopigmented skin patches	HP:0001053
4572	TRNQ	Reduced tendon reflexes	HP:0001315
4572	TRNQ	Thyroiditis	HP:0100646
4572	TRNQ	Left ventricular dysfunction	HP:0005162
4572	TRNQ	Type I diabetes mellitus	HP:0100651
4572	TRNQ	Mask-like facies	HP:0000298
4572	TRNQ	Pulmonary arterial hypertension	HP:0002092
4572	TRNQ	Muscle weakness	HP:0001324
4572	TRNQ	Respiratory insufficiency	HP:0002093
4572	TRNQ	EEG abnormality	HP:0002353
4572	TRNQ	Memory impairment	HP:0002354
4572	TRNQ	Diabetes mellitus	HP:0000819
4572	TRNQ	Dystonia	HP:0001332
4572	TRNQ	Hypothyroidism	HP:0000821
4572	TRNQ	Hypertension	HP:0000822
4572	TRNQ	Delayed puberty	HP:0000823
4572	TRNQ	Lactic acidosis	HP:0003128
4572	TRNQ	Apnea	HP:0002104
4572	TRNQ	Tremor	HP:0001337
4572	TRNQ	Hypertelorism	HP:0000316
4572	TRNQ	Hypoparathyroidism	HP:0000829
4572	TRNQ	Anterior hypopituitarism	HP:0000830
4572	TRNQ	Hyperthyroidism	HP:0000836
4572	TRNQ	Ventriculomegaly	HP:0002119
4572	TRNQ	Developmental regression	HP:0002376
4572	TRNQ	Cerebral cortical atrophy	HP:0002120
4572	TRNQ	Paresthesia	HP:0003401
4572	TRNQ	Generalized myoclonic seizures	HP:0002123
4572	TRNQ	Aphasia	HP:0002381
4572	TRNQ	Cerebral ischemia	HP:0002637
4572	TRNQ	Aortic aneurysm	HP:0004942
4572	TRNQ	Abnormal macular morphology	HP:0001103
4572	TRNQ	Renal insufficiency	HP:0000083
4572	TRNQ	Ophthalmoparesis	HP:0000597
4572	TRNQ	Goiter	HP:0000853
4572	TRNQ	Aortic dissection	HP:0002647
4572	TRNQ	Hemianopia	HP:0012377
4572	TRNQ	Ophthalmoplegia	HP:0000602
4572	TRNQ	Type II diabetes mellitus	HP:0005978
4572	TRNQ	Fatigue	HP:0012378
4572	TRNQ	Proteinuria	HP:0000093
4572	TRNQ	Intestinal obstruction	HP:0005214
4572	TRNQ	Stroke-like episode	HP:0002401
4572	TRNQ	Cerebral visual impairment	HP:0100704
4572	TRNQ	Congestive heart failure	HP:0001635
4572	TRNQ	Nephrotic syndrome	HP:0000100
4572	TRNQ	Hypercalciuria	HP:0002150
4572	TRNQ	Hypertrophic cardiomyopathy	HP:0001639
4572	TRNQ	Increased serum lactate	HP:0002151
4572	TRNQ	Attention deficit hyperactivity disorder	HP:0007018
4572	TRNQ	Sudden cardiac death	HP:0001645
4572	TRNQ	Clonus	HP:0002169
4572	TRNQ	Myopathy	HP:0003198
4572	TRNQ	Ragged-red muscle fibers	HP:0003200
4572	TRNQ	Ichthyosis	HP:0008064
4572	TRNQ	EMG abnormality	HP:0003457
4572	TRNQ	Skeletal muscle atrophy	HP:0003202
4572	TRNQ	Optic atrophy	HP:0000648
4572	TRNQ	Abnormality of visual evoked potentials	HP:0000649
4572	TRNQ	Mitochondrial inheritance	HP:0001427
4572	TRNQ	Nyctalopia	HP:0000662
4572	TRNQ	Sensorineural hearing impairment	HP:0000407
4572	TRNQ	Progressive sensorineural hearing impairment	HP:0000408
4572	TRNQ	Mitochondrial myopathy	HP:0003737
4572	TRNQ	Fever	HP:0001945
4572	TRNQ	Protruding ear	HP:0000411
4572	TRNQ	Pulmonary embolism	HP:0002204
4572	TRNQ	Carious teeth	HP:0000670
4572	TRNQ	Elevated serum creatine kinase	HP:0003236
4572	TRNQ	Feeding difficulties in infancy	HP:0008872
4572	TRNQ	Bilateral sensorineural hearing impairment	HP:0008619
4572	TRNQ	Left ventricular hypertrophy	HP:0001712
4572	TRNQ	Tubulointerstitial abnormality	HP:0001969
4572	TRNQ	Heart block	HP:0012722
4572	TRNQ	Wolff-Parkinson-White syndrome	HP:0001716
4572	TRNQ	Generalized hirsutism	HP:0002230
4572	TRNQ	Abnormality of movement	HP:0100022
4572	TRNQ	Cognitive impairment	HP:0100543
4572	TRNQ	Delayed skeletal maturation	HP:0002750
4572	TRNQ	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4572	TRNQ	Pancreatitis	HP:0001733
4572	TRNQ	Depressivity	HP:0000716
4572	TRNQ	Autism	HP:0000717
4572	TRNQ	Cerebral calcification	HP:0002514
4572	TRNQ	Gingival overgrowth	HP:0000212
4572	TRNQ	Glomerulopathy	HP:0100820
4572	TRNQ	Psychotic episodes	HP:0000725
4572	TRNQ	Dementia	HP:0000726
4572	TRNQ	Abnormality of mitochondrial metabolism	HP:0003287
4572	TRNQ	Abnormality of neuronal migration	HP:0002269
4572	TRNQ	Amaurosis fugax	HP:0100576
4572	TRNQ	Nausea and vomiting	HP:0002017
4572	TRNQ	Short stature	HP:0004322
4572	TRNQ	Hallucinations	HP:0000738
4572	TRNQ	Growth abnormality	HP:0001507
4572	TRNQ	Ataxia	HP:0001251
4572	TRNQ	Constipation	HP:0002019
4572	TRNQ	Anxiety	HP:0000739
4572	TRNQ	Muscular hypotonia	HP:0001252
4572	TRNQ	Cachexia	HP:0004326
4572	TRNQ	Malabsorption	HP:0002024
4572	TRNQ	Abdominal pain	HP:0002027
4572	TRNQ	Dysarthria	HP:0001260
4572	TRNQ	Variable expressivity	HP:0003828
4572	TRNQ	Multiple lipomas	HP:0001012
4572	TRNQ	Arthrogryposis multiplex congenita	HP:0002804
4572	TRNQ	Hemiparesis	HP:0001269
4572	TRNQ	Anorexia	HP:0002039
4572	TRNQ	Decreased nerve conduction velocity	HP:0000762
4572	TRNQ	Spontaneous hematomas	HP:0007420
4572	TRNQ	Microcephaly	HP:0000252
4572	TRNQ	Ptosis	HP:0000508
4572	TRNQ	Myalgia	HP:0003326
4574	TRNS1	Death in early adulthood	HP:0100613
4574	TRNS1	Glycosuria	HP:0003076
4574	TRNS1	Cataract	HP:0000518
4574	TRNS1	Developmental cataract	HP:0000519
4574	TRNS1	Autosomal recessive inheritance	HP:0000007
4574	TRNS1	Generalized hypotonia	HP:0001290
4574	TRNS1	Episodic vomiting	HP:0002572
4574	TRNS1	Primary adrenal insufficiency	HP:0008207
4574	TRNS1	Encephalopathy	HP:0001298
4574	TRNS1	Gastroparesis	HP:0002578
4574	TRNS1	Reduced consciousness/confusion	HP:0004372
4574	TRNS1	Generalized tonic-clonic seizures	HP:0002069
4574	TRNS1	Abnormality of retinal pigmentation	HP:0007703
4574	TRNS1	Aminoaciduria	HP:0003355
4574	TRNS1	Migraine	HP:0002076
4574	TRNS1	Hypopigmented skin patches	HP:0001053
4574	TRNS1	Reduced tendon reflexes	HP:0001315
4574	TRNS1	Hyperphosphaturia	HP:0003109
4574	TRNS1	Thyroiditis	HP:0100646
4574	TRNS1	Left ventricular dysfunction	HP:0005162
4574	TRNS1	Type I diabetes mellitus	HP:0100651
4574	TRNS1	Mask-like facies	HP:0000298
4574	TRNS1	Pulmonary arterial hypertension	HP:0002092
4574	TRNS1	Muscle weakness	HP:0001324
4574	TRNS1	Respiratory insufficiency	HP:0002093
4574	TRNS1	Leukoencephalopathy	HP:0002352
4574	TRNS1	EEG abnormality	HP:0002353
4574	TRNS1	Memory impairment	HP:0002354
4574	TRNS1	Respiratory distress	HP:0002098
4574	TRNS1	Diabetes mellitus	HP:0000819
4574	TRNS1	Dystonia	HP:0001332
4574	TRNS1	Hypothyroidism	HP:0000821
4574	TRNS1	Hypertension	HP:0000822
4574	TRNS1	Delayed puberty	HP:0000823
4574	TRNS1	Lactic acidosis	HP:0003128
4574	TRNS1	Apnea	HP:0002104
4574	TRNS1	Tremor	HP:0001337
4574	TRNS1	Exertional dyspnea	HP:0002875
4574	TRNS1	Hypertelorism	HP:0000316
4574	TRNS1	Hypoparathyroidism	HP:0000829
4574	TRNS1	Anterior hypopituitarism	HP:0000830
4574	TRNS1	Restrictive deficit on pulmonary function testing	HP:0002111
4574	TRNS1	Brisk reflexes	HP:0001348
4574	TRNS1	Hyperthyroidism	HP:0000836
4574	TRNS1	Pigmentary retinopathy	HP:0000580
4574	TRNS1	Ventriculomegaly	HP:0002119
4574	TRNS1	Developmental regression	HP:0002376
4574	TRNS1	Cerebral cortical atrophy	HP:0002120
4574	TRNS1	Paresthesia	HP:0003401
4574	TRNS1	Generalized myoclonic seizures	HP:0002123
4574	TRNS1	Aphasia	HP:0002381
4574	TRNS1	Cerebral ischemia	HP:0002637
4574	TRNS1	Progressive external ophthalmoplegia	HP:0000590
4574	TRNS1	Aortic aneurysm	HP:0004942
4574	TRNS1	Abnormal macular morphology	HP:0001103
4574	TRNS1	Renal insufficiency	HP:0000083
4574	TRNS1	Ophthalmoparesis	HP:0000597
4574	TRNS1	Goiter	HP:0000853
4574	TRNS1	Aortic dissection	HP:0002647
4574	TRNS1	Hemianopia	HP:0012377
4574	TRNS1	Ophthalmoplegia	HP:0000602
4574	TRNS1	Type II diabetes mellitus	HP:0005978
4574	TRNS1	Fatigue	HP:0012378
4574	TRNS1	Proteinuria	HP:0000093
4574	TRNS1	Intestinal obstruction	HP:0005214
4574	TRNS1	Stroke-like episode	HP:0002401
4574	TRNS1	Cerebral visual impairment	HP:0100704
4574	TRNS1	Congestive heart failure	HP:0001635
4574	TRNS1	Nephrotic syndrome	HP:0000100
4574	TRNS1	Hypercalciuria	HP:0002150
4574	TRNS1	Increased serum lactate	HP:0002151
4574	TRNS1	Hypertrophic cardiomyopathy	HP:0001639
4574	TRNS1	Cytochrome C oxidase-negative muscle fibers	HP:0003688
4574	TRNS1	Attention deficit hyperactivity disorder	HP:0007018
4574	TRNS1	Sudden cardiac death	HP:0001645
4574	TRNS1	Anemia	HP:0001903
4574	TRNS1	Progressive proximal muscle weakness	HP:0009073
4574	TRNS1	Clonus	HP:0002169
4574	TRNS1	Abnormal mitochondria in muscle tissue	HP:0008316
4574	TRNS1	Renal tubular dysfunction	HP:0000124
4574	TRNS1	Myopathy	HP:0003198
4574	TRNS1	Ragged-red muscle fibers	HP:0003200
4574	TRNS1	Ichthyosis	HP:0008064
4574	TRNS1	EMG abnormality	HP:0003457
4574	TRNS1	Skeletal muscle atrophy	HP:0003202
4574	TRNS1	Decreased liver function	HP:0001410
4574	TRNS1	Optic atrophy	HP:0000648
4574	TRNS1	Abnormality of visual evoked potentials	HP:0000649
4574	TRNS1	Heterogeneous	HP:0001425
4574	TRNS1	Mitochondrial inheritance	HP:0001427
4574	TRNS1	Nyctalopia	HP:0000662
4574	TRNS1	Sensorineural hearing impairment	HP:0000407
4574	TRNS1	Progressive sensorineural hearing impairment	HP:0000408
4574	TRNS1	Mitochondrial myopathy	HP:0003737
4574	TRNS1	Fever	HP:0001945
4574	TRNS1	Protruding ear	HP:0000411
4574	TRNS1	Pulmonary embolism	HP:0002204
4574	TRNS1	Carious teeth	HP:0000670
4574	TRNS1	Elevated serum creatine kinase	HP:0003236
4574	TRNS1	Increased hepatocellular lipid droplets	HP:0006565
4574	TRNS1	Feeding difficulties in infancy	HP:0008872
4574	TRNS1	Bilateral sensorineural hearing impairment	HP:0008619
4574	TRNS1	Left ventricular hypertrophy	HP:0001712
4574	TRNS1	Tubulointerstitial abnormality	HP:0001969
4574	TRNS1	Heart block	HP:0012722
4574	TRNS1	Wolff-Parkinson-White syndrome	HP:0001716
4574	TRNS1	Generalized hirsutism	HP:0002230
4574	TRNS1	Abnormality of movement	HP:0100022
4574	TRNS1	Increased CSF lactate	HP:0002490
4574	TRNS1	Respiratory insufficiency due to muscle weakness	HP:0002747
4574	TRNS1	Cognitive impairment	HP:0100543
4574	TRNS1	Delayed skeletal maturation	HP:0002750
4574	TRNS1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4574	TRNS1	Hepatomegaly	HP:0002240
4574	TRNS1	Pancreatitis	HP:0001733
4574	TRNS1	Aminoglycoside-induced hearing loss	HP:0011975
4574	TRNS1	Renal Fanconi syndrome	HP:0001994
4574	TRNS1	Depressivity	HP:0000716
4574	TRNS1	Autism	HP:0000717
4574	TRNS1	Increased intramyocellular lipid droplets	HP:0012240
4574	TRNS1	Cerebral calcification	HP:0002514
4574	TRNS1	Gingival overgrowth	HP:0000212
4574	TRNS1	Glomerulopathy	HP:0100820
4574	TRNS1	Psychotic episodes	HP:0000725
4574	TRNS1	Dementia	HP:0000726
4574	TRNS1	Palmoplantar keratoderma	HP:0000982
4574	TRNS1	Abnormality of mitochondrial metabolism	HP:0003287
4574	TRNS1	Muscle abnormality related to mitochondrial dysfunction	HP:0003800
4574	TRNS1	Exercise intolerance	HP:0003546
4574	TRNS1	Abnormality of neuronal migration	HP:0002269
4574	TRNS1	Amaurosis fugax	HP:0100576
4574	TRNS1	Nausea and vomiting	HP:0002017
4574	TRNS1	Intellectual disability	HP:0001249
4574	TRNS1	Short stature	HP:0004322
4574	TRNS1	Hallucinations	HP:0000738
4574	TRNS1	Seizures	HP:0001250
4574	TRNS1	Growth abnormality	HP:0001507
4574	TRNS1	Ataxia	HP:0001251
4574	TRNS1	Constipation	HP:0002019
4574	TRNS1	Anxiety	HP:0000739
4574	TRNS1	Muscular hypotonia	HP:0001252
4574	TRNS1	Failure to thrive	HP:0001508
4574	TRNS1	Cachexia	HP:0004326
4574	TRNS1	Intellectual disability, mild	HP:0001256
4574	TRNS1	Malabsorption	HP:0002024
4574	TRNS1	Abdominal pain	HP:0002027
4574	TRNS1	Dysarthria	HP:0001260
4574	TRNS1	Global developmental delay	HP:0001263
4574	TRNS1	Variable expressivity	HP:0003828
4574	TRNS1	Multiple lipomas	HP:0001012
4574	TRNS1	Mildly elevated creatine kinase	HP:0008180
4574	TRNS1	Arthrogryposis multiplex congenita	HP:0002804
4574	TRNS1	Hemiparesis	HP:0001269
4574	TRNS1	Motor delay	HP:0001270
4574	TRNS1	Anorexia	HP:0002039
4574	TRNS1	Decreased nerve conduction velocity	HP:0000762
4574	TRNS1	Ptosis	HP:0000508
4574	TRNS1	Spontaneous hematomas	HP:0007420
4574	TRNS1	Microcephaly	HP:0000252
4574	TRNS1	Myalgia	HP:0003326
4574	TRNS1	Axial muscle weakness	HP:0003327
4575	TRNS2	Abnormal electroretinogram	HP:0000512
4575	TRNS2	Death in early adulthood	HP:0100613
4575	TRNS2	Cataract	HP:0000518
4575	TRNS2	Developmental cataract	HP:0000519
4575	TRNS2	Episodic vomiting	HP:0002572
4575	TRNS2	Primary adrenal insufficiency	HP:0008207
4575	TRNS2	Encephalopathy	HP:0001298
4575	TRNS2	Gastroparesis	HP:0002578
4575	TRNS2	Reduced consciousness/confusion	HP:0004372
4575	TRNS2	Generalized tonic-clonic seizures	HP:0002069
4575	TRNS2	Abnormality of retinal pigmentation	HP:0007703
4575	TRNS2	Migraine	HP:0002076
4575	TRNS2	Hypopigmented skin patches	HP:0001053
4575	TRNS2	Reduced tendon reflexes	HP:0001315
4575	TRNS2	Thyroiditis	HP:0100646
4575	TRNS2	Left ventricular dysfunction	HP:0005162
4575	TRNS2	Type I diabetes mellitus	HP:0100651
4575	TRNS2	Mask-like facies	HP:0000298
4575	TRNS2	Pulmonary arterial hypertension	HP:0002092
4575	TRNS2	Muscle weakness	HP:0001324
4575	TRNS2	Respiratory insufficiency	HP:0002093
4575	TRNS2	EEG abnormality	HP:0002353
4575	TRNS2	Iris hypopigmentation	HP:0007730
4575	TRNS2	Memory impairment	HP:0002354
4575	TRNS2	Diabetes mellitus	HP:0000819
4575	TRNS2	High hypermetropia	HP:0008499
4575	TRNS2	Dystonia	HP:0001332
4575	TRNS2	Hypothyroidism	HP:0000821
4575	TRNS2	Hypertension	HP:0000822
4575	TRNS2	Delayed puberty	HP:0000823
4575	TRNS2	Lactic acidosis	HP:0003128
4575	TRNS2	Apnea	HP:0002104
4575	TRNS2	Tremor	HP:0001337
4575	TRNS2	Visual loss	HP:0000572
4575	TRNS2	Hypertelorism	HP:0000316
4575	TRNS2	Hypoparathyroidism	HP:0000829
4575	TRNS2	Anterior hypopituitarism	HP:0000830
4575	TRNS2	Scotoma	HP:0000575
4575	TRNS2	Hyperthyroidism	HP:0000836
4575	TRNS2	Ventriculomegaly	HP:0002119
4575	TRNS2	Developmental regression	HP:0002376
4575	TRNS2	Cerebral cortical atrophy	HP:0002120
4575	TRNS2	Paresthesia	HP:0003401
4575	TRNS2	Generalized myoclonic seizures	HP:0002123
4575	TRNS2	Aphasia	HP:0002381
4575	TRNS2	Cerebral ischemia	HP:0002637
4575	TRNS2	Aortic aneurysm	HP:0004942
4575	TRNS2	Abnormal macular morphology	HP:0001103
4575	TRNS2	Renal insufficiency	HP:0000083
4575	TRNS2	Ophthalmoparesis	HP:0000597
4575	TRNS2	Goiter	HP:0000853
4575	TRNS2	Aortic dissection	HP:0002647
4575	TRNS2	Hemianopia	HP:0012377
4575	TRNS2	Ophthalmoplegia	HP:0000602
4575	TRNS2	Type II diabetes mellitus	HP:0005978
4575	TRNS2	Fatigue	HP:0012378
4575	TRNS2	Proteinuria	HP:0000093
4575	TRNS2	Intestinal obstruction	HP:0005214
4575	TRNS2	Stroke-like episode	HP:0002401
4575	TRNS2	Cerebral visual impairment	HP:0100704
4575	TRNS2	Congestive heart failure	HP:0001635
4575	TRNS2	Nephrotic syndrome	HP:0000100
4575	TRNS2	Hypercalciuria	HP:0002150
4575	TRNS2	Hypertrophic cardiomyopathy	HP:0001639
4575	TRNS2	Increased serum lactate	HP:0002151
4575	TRNS2	Attention deficit hyperactivity disorder	HP:0007018
4575	TRNS2	Sudden cardiac death	HP:0001645
4575	TRNS2	Abnormal cochlea morphology	HP:0000375
4575	TRNS2	Clonus	HP:0002169
4575	TRNS2	Myopathy	HP:0003198
4575	TRNS2	Ragged-red muscle fibers	HP:0003200
4575	TRNS2	Ichthyosis	HP:0008064
4575	TRNS2	EMG abnormality	HP:0003457
4575	TRNS2	Skeletal muscle atrophy	HP:0003202
4575	TRNS2	Optic atrophy	HP:0000648
4575	TRNS2	Abnormality of visual evoked potentials	HP:0000649
4575	TRNS2	Schizophrenia	HP:0100753
4575	TRNS2	Mitochondrial inheritance	HP:0001427
4575	TRNS2	Nyctalopia	HP:0000662
4575	TRNS2	Sensorineural hearing impairment	HP:0000407
4575	TRNS2	Progressive sensorineural hearing impairment	HP:0000408
4575	TRNS2	Mitochondrial myopathy	HP:0003737
4575	TRNS2	Fever	HP:0001945
4575	TRNS2	Protruding ear	HP:0000411
4575	TRNS2	Pulmonary embolism	HP:0002204
4575	TRNS2	Carious teeth	HP:0000670
4575	TRNS2	Elevated serum creatine kinase	HP:0003236
4575	TRNS2	Feeding difficulties in infancy	HP:0008872
4575	TRNS2	Bilateral sensorineural hearing impairment	HP:0008619
4575	TRNS2	Left ventricular hypertrophy	HP:0001712
4575	TRNS2	Tubulointerstitial abnormality	HP:0001969
4575	TRNS2	Heart block	HP:0012722
4575	TRNS2	Wolff-Parkinson-White syndrome	HP:0001716
4575	TRNS2	Generalized hirsutism	HP:0002230
4575	TRNS2	Abnormality of movement	HP:0100022
4575	TRNS2	Cognitive impairment	HP:0100543
4575	TRNS2	Delayed skeletal maturation	HP:0002750
4575	TRNS2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4575	TRNS2	Pancreatitis	HP:0001733
4575	TRNS2	Depressivity	HP:0000716
4575	TRNS2	Autism	HP:0000717
4575	TRNS2	Cerebral calcification	HP:0002514
4575	TRNS2	Gingival overgrowth	HP:0000212
4575	TRNS2	Glomerulopathy	HP:0100820
4575	TRNS2	Psychotic episodes	HP:0000725
4575	TRNS2	Dementia	HP:0000726
4575	TRNS2	Abnormality of mitochondrial metabolism	HP:0003287
4575	TRNS2	Vestibular hypofunction	HP:0001756
4575	TRNS2	Abnormality of neuronal migration	HP:0002269
4575	TRNS2	Amaurosis fugax	HP:0100576
4575	TRNS2	Nausea and vomiting	HP:0002017
4575	TRNS2	Short stature	HP:0004322
4575	TRNS2	Hallucinations	HP:0000738
4575	TRNS2	Growth abnormality	HP:0001507
4575	TRNS2	Ataxia	HP:0001251
4575	TRNS2	Astigmatism	HP:0000483
4575	TRNS2	Anxiety	HP:0000739
4575	TRNS2	Constipation	HP:0002019
4575	TRNS2	Muscular hypotonia	HP:0001252
4575	TRNS2	Cachexia	HP:0004326
4575	TRNS2	Malabsorption	HP:0002024
4575	TRNS2	Abdominal pain	HP:0002027
4575	TRNS2	Dysarthria	HP:0001260
4575	TRNS2	Variable expressivity	HP:0003828
4575	TRNS2	Multiple lipomas	HP:0001012
4575	TRNS2	Arthrogryposis multiplex congenita	HP:0002804
4575	TRNS2	Hemiparesis	HP:0001269
4575	TRNS2	Anorexia	HP:0002039
4575	TRNS2	Decreased nerve conduction velocity	HP:0000762
4575	TRNS2	Spontaneous hematomas	HP:0007420
4575	TRNS2	Microcephaly	HP:0000252
4575	TRNS2	Ptosis	HP:0000508
4575	TRNS2	Myalgia	HP:0003326
4576	TRNT	Seizures	HP:0001250
4576	TRNT	Severe lactic acidosis	HP:0004900
4576	TRNT	Areflexia	HP:0001284
4576	TRNT	Cardiomyopathy	HP:0001638
4576	TRNT	Lethargy	HP:0001254
4576	TRNT	Generalized neonatal hypotonia	HP:0008935
4576	TRNT	Lethal infantile mitochondrial myopathy	HP:0009069
4576	TRNT	Progressive external ophthalmoplegia	HP:0000590
4576	TRNT	Severe global developmental delay	HP:0011344
4576	TRNT	Mitochondrial inheritance	HP:0001427
4576	TRNT	Neonatal respiratory distress	HP:0002643
4576	TRNT	Renal insufficiency	HP:0000083
4576	TRNT	Fatal liver failure in infancy	HP:0006583
4576	TRNT	Lactic acidosis	HP:0003128
4576	TRNT	Myopathy	HP:0003198
4577	TRNV	Ragged-red muscle fibers	HP:0003200
4577	TRNV	Developmental cataract	HP:0000519
4577	TRNV	Episodic vomiting	HP:0002572
4577	TRNV	Encephalopathy	HP:0001298
4577	TRNV	Mitochondrial inheritance	HP:0001427
4577	TRNV	Generalized tonic-clonic seizures	HP:0002069
4577	TRNV	Dementia	HP:0000726
4577	TRNV	Progressive sensorineural hearing impairment	HP:0000408
4577	TRNV	Mitochondrial myopathy	HP:0003737
4577	TRNV	Hemianopia	HP:0012377
4577	TRNV	Ophthalmoplegia	HP:0000602
4577	TRNV	Migraine	HP:0002076
4577	TRNV	Stroke-like episode	HP:0002401
4577	TRNV	Cerebral visual impairment	HP:0100704
4577	TRNV	Growth abnormality	HP:0001507
4577	TRNV	Congestive heart failure	HP:0001635
4577	TRNV	Left ventricular dysfunction	HP:0005162
4577	TRNV	Bilateral sensorineural hearing impairment	HP:0008619
4577	TRNV	Left ventricular hypertrophy	HP:0001712
4577	TRNV	Diabetes mellitus	HP:0000819
4577	TRNV	Wolff-Parkinson-White syndrome	HP:0001716
4577	TRNV	Variable expressivity	HP:0003828
4577	TRNV	Hemiparesis	HP:0001269
4577	TRNV	Hypertension	HP:0000822
4577	TRNV	Lactic acidosis	HP:0003128
4577	TRNV	Myopathy	HP:0003198
4578	TRNW	Death in early adulthood	HP:0100613
4578	TRNW	Autosomal dominant inheritance	HP:0000006
4578	TRNW	Cataract	HP:0000518
4578	TRNW	Developmental cataract	HP:0000519
4578	TRNW	Autosomal recessive inheritance	HP:0000007
4578	TRNW	Generalized hypotonia	HP:0001290
4578	TRNW	Episodic vomiting	HP:0002572
4578	TRNW	Primary adrenal insufficiency	HP:0008207
4578	TRNW	Encephalopathy	HP:0001298
4578	TRNW	Gastroparesis	HP:0002578
4578	TRNW	Reduced consciousness/confusion	HP:0004372
4578	TRNW	Generalized tonic-clonic seizures	HP:0002069
4578	TRNW	Abnormality of retinal pigmentation	HP:0007703
4578	TRNW	Migraine	HP:0002076
4578	TRNW	Hypopigmented skin patches	HP:0001053
4578	TRNW	Reduced tendon reflexes	HP:0001315
4578	TRNW	Thyroiditis	HP:0100646
4578	TRNW	Left ventricular dysfunction	HP:0005162
4578	TRNW	Type I diabetes mellitus	HP:0100651
4578	TRNW	Mask-like facies	HP:0000298
4578	TRNW	Muscle weakness	HP:0001324
4578	TRNW	Pulmonary arterial hypertension	HP:0002092
4578	TRNW	Respiratory insufficiency	HP:0002093
4578	TRNW	EEG abnormality	HP:0002353
4578	TRNW	Memory impairment	HP:0002354
4578	TRNW	Diabetes mellitus	HP:0000819
4578	TRNW	Dystonia	HP:0001332
4578	TRNW	Hypothyroidism	HP:0000821
4578	TRNW	Hypertension	HP:0000822
4578	TRNW	Delayed puberty	HP:0000823
4578	TRNW	Lactic acidosis	HP:0003128
4578	TRNW	Apnea	HP:0002104
4578	TRNW	Tremor	HP:0001337
4578	TRNW	Hypertelorism	HP:0000316
4578	TRNW	Hypoparathyroidism	HP:0000829
4578	TRNW	Anterior hypopituitarism	HP:0000830
4578	TRNW	Hyperthyroidism	HP:0000836
4578	TRNW	Ventriculomegaly	HP:0002119
4578	TRNW	Developmental regression	HP:0002376
4578	TRNW	Cerebral cortical atrophy	HP:0002120
4578	TRNW	Paresthesia	HP:0003401
4578	TRNW	Aphasia	HP:0002381
4578	TRNW	Cerebral ischemia	HP:0002637
4578	TRNW	Aortic aneurysm	HP:0004942
4578	TRNW	Abnormal macular morphology	HP:0001103
4578	TRNW	Renal insufficiency	HP:0000083
4578	TRNW	Ophthalmoparesis	HP:0000597
4578	TRNW	Goiter	HP:0000853
4578	TRNW	Aortic dissection	HP:0002647
4578	TRNW	Hemianopia	HP:0012377
4578	TRNW	Ophthalmoplegia	HP:0000602
4578	TRNW	Type II diabetes mellitus	HP:0005978
4578	TRNW	Fatigue	HP:0012378
4578	TRNW	Proteinuria	HP:0000093
4578	TRNW	Intestinal obstruction	HP:0005214
4578	TRNW	Stroke-like episode	HP:0002401
4578	TRNW	Cerebral visual impairment	HP:0100704
4578	TRNW	Congestive heart failure	HP:0001635
4578	TRNW	Nephrotic syndrome	HP:0000100
4578	TRNW	Hypercalciuria	HP:0002150
4578	TRNW	Hypertrophic cardiomyopathy	HP:0001639
4578	TRNW	Increased serum lactate	HP:0002151
4578	TRNW	Attention deficit hyperactivity disorder	HP:0007018
4578	TRNW	Sudden cardiac death	HP:0001645
4578	TRNW	Clonus	HP:0002169
4578	TRNW	Myopathy	HP:0003198
4578	TRNW	Ragged-red muscle fibers	HP:0003200
4578	TRNW	Ichthyosis	HP:0008064
4578	TRNW	EMG abnormality	HP:0003457
4578	TRNW	Skeletal muscle atrophy	HP:0003202
4578	TRNW	Optic atrophy	HP:0000648
4578	TRNW	Abnormality of visual evoked potentials	HP:0000649
4578	TRNW	Mitochondrial inheritance	HP:0001427
4578	TRNW	Abnormality of metabolism/homeostasis	HP:0001939
4578	TRNW	Nyctalopia	HP:0000662
4578	TRNW	Sensorineural hearing impairment	HP:0000407
4578	TRNW	Progressive sensorineural hearing impairment	HP:0000408
4578	TRNW	Mitochondrial myopathy	HP:0003737
4578	TRNW	Fever	HP:0001945
4578	TRNW	Protruding ear	HP:0000411
4578	TRNW	Pulmonary embolism	HP:0002204
4578	TRNW	Macroglossia	HP:0000158
4578	TRNW	Carious teeth	HP:0000670
4578	TRNW	Elevated serum creatine kinase	HP:0003236
4578	TRNW	Feeding difficulties in infancy	HP:0008872
4578	TRNW	Bilateral sensorineural hearing impairment	HP:0008619
4578	TRNW	Left ventricular hypertrophy	HP:0001712
4578	TRNW	Tubulointerstitial abnormality	HP:0001969
4578	TRNW	Heart block	HP:0012722
4578	TRNW	Wolff-Parkinson-White syndrome	HP:0001716
4578	TRNW	Generalized hirsutism	HP:0002230
4578	TRNW	Delayed skeletal maturation	HP:0002750
4578	TRNW	Hepatomegaly	HP:0002240
4578	TRNW	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4578	TRNW	Pancreatitis	HP:0001733
4578	TRNW	Depressivity	HP:0000716
4578	TRNW	Autism	HP:0000717
4578	TRNW	Cerebral calcification	HP:0002514
4578	TRNW	Gingival overgrowth	HP:0000212
4578	TRNW	Glomerulopathy	HP:0100820
4578	TRNW	Psychotic episodes	HP:0000725
4578	TRNW	Dementia	HP:0000726
4578	TRNW	Abnormality of mitochondrial metabolism	HP:0003287
4578	TRNW	Abnormality of neuronal migration	HP:0002269
4578	TRNW	Amaurosis fugax	HP:0100576
4578	TRNW	Nausea and vomiting	HP:0002017
4578	TRNW	Short stature	HP:0004322
4578	TRNW	Hallucinations	HP:0000738
4578	TRNW	Growth abnormality	HP:0001507
4578	TRNW	Constipation	HP:0002019
4578	TRNW	Anxiety	HP:0000739
4578	TRNW	Ataxia	HP:0001251
4578	TRNW	Muscular hypotonia	HP:0001252
4578	TRNW	Cachexia	HP:0004326
4578	TRNW	Malabsorption	HP:0002024
4578	TRNW	Abdominal pain	HP:0002027
4578	TRNW	Dysarthria	HP:0001260
4578	TRNW	Hyporeflexia	HP:0001265
4578	TRNW	Variable expressivity	HP:0003828
4578	TRNW	Arthrogryposis multiplex congenita	HP:0002804
4578	TRNW	Multiple lipomas	HP:0001012
4578	TRNW	Hemiparesis	HP:0001269
4578	TRNW	Motor delay	HP:0001270
4578	TRNW	Anorexia	HP:0002039
4578	TRNW	Decreased nerve conduction velocity	HP:0000762
4578	TRNW	Spontaneous hematomas	HP:0007420
4578	TRNW	Microcephaly	HP:0000252
4578	TRNW	Ptosis	HP:0000508
4578	TRNW	Myalgia	HP:0003326
4582	MUC1	Renal cortical atrophy	HP:0002048
4582	MUC1	Glomerulosclerosis	HP:0000096
4582	MUC1	Hyperuricemia	HP:0002149
4582	MUC1	Autosomal dominant inheritance	HP:0000006
4582	MUC1	Tubulointerstitial fibrosis	HP:0005576
4582	MUC1	Renal corticomedullary cysts	HP:0000108
4582	MUC1	Gout	HP:0001997
4582	MUC1	Anemia	HP:0001903
4582	MUC1	Tubular basement membrane disintegration	HP:0005583
4582	MUC1	Tubulointerstitial nephritis	HP:0001970
4582	MUC1	Decreased glomerular filtration rate	HP:0012213
4582	MUC1	Hypertension	HP:0000822
4582	MUC1	Hypotension	HP:0002615
4582	MUC1	Renal hypoplasia	HP:0000089
4582	MUC1	Elevated serum creatinine	HP:0003259
4582	MUC1	Impaired renal uric acid clearance	HP:0004732
4582	MUC1	Tubular atrophy	HP:0000092
4582	MUC1	Adult onset	HP:0003581
4582	MUC1	Stage 5 chronic kidney disease	HP:0003774
4582	MUC1	Renal salt wasting	HP:0000127
4591	TRIM37	Hepatomegaly	HP:0002240
4591	TRIM37	Absent frontal sinuses	HP:0002688
4591	TRIM37	Macrocephaly	HP:0000256
4591	TRIM37	Pigmentary retinopathy	HP:0000580
4591	TRIM37	Triangular face	HP:0000325
4591	TRIM37	Autosomal recessive inheritance	HP:0000007
4591	TRIM37	Ventriculomegaly	HP:0002119
4591	TRIM37	Pericardial constriction	HP:0005132
4591	TRIM37	Dolichocephaly	HP:0000268
4591	TRIM37	High pitched voice	HP:0001620
4591	TRIM37	Myocardial fibrosis	HP:0001685
4591	TRIM37	Weak voice	HP:0001621
4591	TRIM37	Frontal bossing	HP:0002007
4591	TRIM37	Hypodontia	HP:0000668
4591	TRIM37	Depressed nasal bridge	HP:0005280
4591	TRIM37	Short stature	HP:0004322
4591	TRIM37	Astigmatism	HP:0000483
4591	TRIM37	Congestive heart failure	HP:0001635
4591	TRIM37	Reduced tendon reflexes	HP:0001315
4591	TRIM37	Muscular hypotonia	HP:0001252
4591	TRIM37	Dental crowding	HP:0000678
4591	TRIM37	Strabismus	HP:0000486
4591	TRIM37	Cachexia	HP:0004326
4591	TRIM37	Intrauterine growth retardation	HP:0001511
4591	TRIM37	Nephroblastoma	HP:0002667
4591	TRIM37	Microglossia	HP:0000171
4591	TRIM37	Dysarthria	HP:0001260
4591	TRIM37	Wide nasal bridge	HP:0000431
4591	TRIM37	Hypoplastic frontal sinuses	HP:0002738
4591	TRIM37	Nevus	HP:0003764
4591	TRIM37	J-shaped sella turcica	HP:0002680
4591	TRIM37	Hypertelorism	HP:0000316
4593	MUSK	Akinesia	HP:0002304
4593	MUSK	Skeletal muscle atrophy	HP:0003202
4593	MUSK	EMG: myopathic abnormalities	HP:0003458
4593	MUSK	Facial palsy	HP:0010628
4593	MUSK	Triceps weakness	HP:0031108
4593	MUSK	Autosomal recessive inheritance	HP:0000007
4593	MUSK	Proptosis	HP:0000520
4593	MUSK	Infantile onset	HP:0003593
4593	MUSK	Thoracic hypoplasia	HP:0005257
4593	MUSK	Neck flexor weakness	HP:0003722
4593	MUSK	Camptodactyly of finger	HP:0100490
4593	MUSK	Diplopia	HP:0000651
4593	MUSK	Multiple joint contractures	HP:0002828
4593	MUSK	Ankle weakness	HP:0031374
4593	MUSK	Ulnar deviation of the hand	HP:0009487
4593	MUSK	High, narrow palate	HP:0002705
4593	MUSK	Delayed gross motor development	HP:0002194
4593	MUSK	Dandy-Walker malformation	HP:0001305
4593	MUSK	Polyhydramnios	HP:0001561
4593	MUSK	Drowsiness	HP:0002329
4593	MUSK	Thoracic kyphoscoliosis	HP:0005659
4593	MUSK	Cryptorchidism	HP:0000028
4593	MUSK	Slender long bone	HP:0003100
4593	MUSK	Abnormality of masticatory muscle	HP:0410011
4593	MUSK	Abnormality of abdomen morphology	HP:0001438
4593	MUSK	Depressed nasal bridge	HP:0005280
4593	MUSK	Narrow mouth	HP:0000160
4593	MUSK	Pterygium	HP:0001059
4593	MUSK	Reduced tendon reflexes	HP:0001315
4593	MUSK	Neonatal hypotonia	HP:0001319
4593	MUSK	Pulmonary hypoplasia	HP:0002089
4593	MUSK	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
4593	MUSK	Cerebellar hypoplasia	HP:0001321
4593	MUSK	Restrictive ventilatory defect	HP:0002091
4593	MUSK	Short umbilical cord	HP:0001196
4593	MUSK	Respiratory insufficiency	HP:0002093
4593	MUSK	Weakness of the intrinsic hand muscles	HP:0009005
4593	MUSK	Rocker bottom foot	HP:0001838
4593	MUSK	Cleft palate	HP:0000175
4593	MUSK	Absent septum pellucidum	HP:0001331
4593	MUSK	Depressed nasal tip	HP:0000437
4593	MUSK	Exertional dyspnea	HP:0002875
4593	MUSK	Easy fatigability	HP:0003388
4593	MUSK	Hypertelorism	HP:0000316
4593	MUSK	Respiratory failure	HP:0002878
4593	MUSK	Gowers sign	HP:0003391
4593	MUSK	Cyanosis	HP:0000961
4593	MUSK	Fetal akinesia sequence	HP:0001989
4593	MUSK	Blepharophimosis	HP:0000581
4593	MUSK	Hypokinesia	HP:0002375
4593	MUSK	Short palpebral fissure	HP:0012745
4593	MUSK	Decreased miniature endplate potentials	HP:0003402
4593	MUSK	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
4593	MUSK	Neck muscle weakness	HP:0000467
4593	MUSK	Abnormality of pelvic girdle bone morphology	HP:0002644
4593	MUSK	Cavum septum pellucidum	HP:0002389
4593	MUSK	Ophthalmoparesis	HP:0000597
4593	MUSK	Short neck	HP:0000470
4593	MUSK	Premature birth	HP:0001622
4593	MUSK	Long philtrum	HP:0000343
4593	MUSK	Ophthalmoplegia	HP:0000602
4593	MUSK	Scoliosis	HP:0002650
4593	MUSK	High palate	HP:0000218
4593	MUSK	Micrognathia	HP:0000347
4593	MUSK	Type 1 muscle fiber predominance	HP:0003803
4593	MUSK	Shoulder girdle muscle weakness	HP:0003547
4593	MUSK	Cystic hygroma	HP:0000476
4593	MUSK	Orthopnea	HP:0012764
4593	MUSK	Talipes equinovarus	HP:0001762
4593	MUSK	Hip flexor weakness	HP:0012515
4593	MUSK	Posteriorly rotated ears	HP:0000358
4593	MUSK	Intrauterine growth retardation	HP:0001511
4593	MUSK	Reduced vital capacity	HP:0002792
4593	MUSK	Excessive daytime somnolence	HP:0001262
4593	MUSK	Hydrocephalus	HP:0000238
4593	MUSK	Small for gestational age	HP:0001518
4593	MUSK	Stillbirth	HP:0003826
4593	MUSK	Thin ribs	HP:0000883
4593	MUSK	Decreased size of nerve terminals	HP:0003443
4593	MUSK	Arthrogryposis multiplex congenita	HP:0002804
4593	MUSK	Generalized amyotrophy	HP:0003700
4593	MUSK	Fatigable weakness of respiratory muscles	HP:0030196
4593	MUSK	Weakness of long finger extensor muscles	HP:0009077
4593	MUSK	Fatigable weakness of neck muscles	HP:0030199
4593	MUSK	Absent palmar crease	HP:0010489
4593	MUSK	Telecanthus	HP:0000506
4593	MUSK	Small placenta	HP:0006266
4593	MUSK	Ptosis	HP:0000508
4593	MUSK	Intestinal hypoplasia	HP:0005245
4593	MUSK	Elbow ankylosis	HP:0003070
4594	MMUT	Hepatomegaly	HP:0002240
4594	MMUT	Feeding difficulties	HP:0011968
4594	MMUT	Hyperammonemia	HP:0001987
4594	MMUT	Pancreatitis	HP:0001733
4594	MMUT	Sepsis	HP:0100806
4594	MMUT	Autosomal recessive inheritance	HP:0000007
4594	MMUT	Optic atrophy	HP:0000648
4594	MMUT	Generalized hypotonia	HP:0001290
4594	MMUT	Delayed CNS myelination	HP:0002188
4594	MMUT	Splenomegaly	HP:0001744
4594	MMUT	Thrombocytopenia	HP:0001873
4594	MMUT	Stroke	HP:0001297
4594	MMUT	Renal insufficiency	HP:0000083
4594	MMUT	Neutropenia	HP:0001875
4594	MMUT	Abnormal globus pallidus morphology	HP:0002453
4594	MMUT	Hemiplegia/hemiparesis	HP:0004374
4594	MMUT	Dehydration	HP:0001944
4594	MMUT	Methylmalonic aciduria	HP:0012120
4594	MMUT	Leukopenia	HP:0001882
4594	MMUT	Metabolic ketoacidosis	HP:0005979
4594	MMUT	Vomiting	HP:0002013
4594	MMUT	Methylmalonic acidemia	HP:0002912
4594	MMUT	Intellectual disability	HP:0001249
4594	MMUT	Nausea and vomiting	HP:0002017
4594	MMUT	Immunodeficiency	HP:0002721
4594	MMUT	Seizures	HP:0001250
4594	MMUT	Muscular hypotonia	HP:0001252
4594	MMUT	Failure to thrive	HP:0001508
4594	MMUT	Lethargy	HP:0001254
4594	MMUT	Growth delay	HP:0001510
4594	MMUT	Cardiomyopathy	HP:0001638
4594	MMUT	Hyperglycinemia	HP:0002154
4594	MMUT	Coma	HP:0001259
4594	MMUT	Abdominal pain	HP:0002027
4594	MMUT	Dysarthria	HP:0001260
4594	MMUT	Anemia	HP:0001903
4594	MMUT	Global developmental delay	HP:0001263
4594	MMUT	Cerebellar hemorrhage	HP:0011695
4594	MMUT	Respiratory distress	HP:0002098
4594	MMUT	Choreoathetosis	HP:0001266
4594	MMUT	Tubulointerstitial nephritis	HP:0001970
4594	MMUT	Dystonia	HP:0001332
4594	MMUT	Anorexia	HP:0002039
4594	MMUT	Renal tubular dysfunction	HP:0000124
4594	MMUT	Stage 5 chronic kidney disease	HP:0003774
4595	MUTYH	Congenital hypertrophy of retinal pigment epithelium	HP:0007649
4595	MUTYH	Rectal polyposis	HP:0100896
4595	MUTYH	Pilomatrixoma	HP:0030434
4595	MUTYH	Neoplasm of the skin	HP:0008069
4595	MUTYH	Autosomal dominant inheritance	HP:0000006
4595	MUTYH	Autosomal recessive inheritance	HP:0000007
4595	MUTYH	Adenomatous colonic polyposis	HP:0005227
4595	MUTYH	Somatic mutation	HP:0001428
4595	MUTYH	Adenocarcinoma of the colon	HP:0040276
4595	MUTYH	Increased level of L-fucose in urine	HP:0410067
4595	MUTYH	Colon cancer	HP:0003003
4595	MUTYH	Colorectal polyposis	HP:0200063
4595	MUTYH	Stomach cancer	HP:0012126
283120	H19	Omphalocele	HP:0001539
283120	H19	Short distal phalanx of the 5th finger	HP:0004227
283120	H19	Diastasis recti	HP:0001540
283120	H19	Pancreatic hyperplasia	HP:0006277
283120	H19	Autosomal dominant inheritance	HP:0000006
283120	H19	Syndactyly	HP:0001159
283120	H19	Proptosis	HP:0000520
283120	H19	Testicular seminoma	HP:0100617
283120	H19	Overgrowth	HP:0001548
283120	H19	Prominent occiput	HP:0000269
283120	H19	Aniridia	HP:0000526
283120	H19	Delayed cranial suture closure	HP:0000270
283120	H19	Heterogeneous	HP:0001425
283120	H19	Nephrolithiasis	HP:0000787
283120	H19	Asymmetry of the thorax	HP:0001555
283120	H19	Somatic mutation	HP:0001428
283120	H19	Gonadoblastoma	HP:0000150
283120	H19	Hematuria	HP:0000790
283120	H19	Inguinal hernia	HP:0000023
283120	H19	Coarse facial features	HP:0000280
283120	H19	Midface retrusion	HP:0011800
283120	H19	Dandy-Walker malformation	HP:0001305
283120	H19	Fever	HP:0001945
283120	H19	Downturned corners of mouth	HP:0002714
283120	H19	Nevus flammeus	HP:0001052
283120	H19	Cryptorchidism	HP:0000028
283120	H19	Lymphadenopathy	HP:0002716
283120	H19	Macroglossia	HP:0000158
283120	H19	Weight loss	HP:0001824
283120	H19	Impaired pain sensation	HP:0007328
283120	H19	Sporadic	HP:0003745
283120	H19	Renal cortical cysts	HP:0000803
283120	H19	Abnormality of the dentition	HP:0000164
283120	H19	Myelomeningocele	HP:0002475
283120	H19	Overgrowth of external genitalia	HP:0003247
283120	H19	Neoplasm of the lung	HP:0100526
283120	H19	Hypospadias	HP:0000047
283120	H19	Hypertension	HP:0000822
283120	H19	Growth hormone deficiency	HP:0000824
283120	H19	Cafe-au-lait spot	HP:0000957
283120	H19	Delayed skeletal maturation	HP:0002750
283120	H19	Hepatomegaly	HP:0002240
283120	H19	Hepatoblastoma	HP:0002884
283120	H19	Facial asymmetry	HP:0000324
283120	H19	Abnormality of the ureter	HP:0000069
283120	H19	Triangular face	HP:0000325
283120	H19	Posterior helix pit	HP:0008523
283120	H19	Vesicoureteral reflux	HP:0000076
283120	H19	Congenital posterior urethral valve	HP:0010957
283120	H19	Neonatal hypoglycemia	HP:0001998
283120	H19	Neoplasm of the liver	HP:0002896
283120	H19	Blue sclerae	HP:0000592
283120	H19	Craniofacial disproportion	HP:0005461
283120	H19	Frontal bossing	HP:0002007
283120	H19	Adrenocortical carcinoma	HP:0006744
283120	H19	Abnormality of cardiovascular system morphology	HP:0030680
283120	H19	Scoliosis	HP:0002650
283120	H19	Fasting hypoglycemia	HP:0003162
283120	H19	Abnormality of the cardiovascular system	HP:0001626
283120	H19	Micrognathia	HP:0000347
283120	H19	Abnormality of the foot	HP:0001760
283120	H19	Cardiomyopathy	HP:0001638
283120	H19	Intrauterine growth retardation	HP:0001511
283120	H19	Cardiomegaly	HP:0001640
283120	H19	Intellectual disability, mild	HP:0001256
283120	H19	Enlarged kidney	HP:0000105
283120	H19	Nephroblastoma	HP:0002667
283120	H19	Abdominal pain	HP:0002027
283120	H19	Small for gestational age	HP:0001518
283120	H19	Craniopharyngioma	HP:0030062
283120	H19	Large fontanelles	HP:0000239
283120	H19	Prominent metopic ridge	HP:0005487
283120	H19	Global developmental delay	HP:0001263
283120	H19	Accelerated skeletal maturation	HP:0005616
283120	H19	Clinodactyly of the 5th finger	HP:0004209
283120	H19	Urethral valve	HP:0010481
283120	H19	Hemihypertrophy	HP:0001528
283120	H19	Nephrocalcinosis	HP:0000121
283120	H19	Adrenocortical cytomegaly	HP:0008186
283120	H19	Hepatocellular carcinoma	HP:0001402
283120	H19	Short middle phalanx of the 5th finger	HP:0004220
4597	MVD	Cutaneous photosensitivity	HP:0000992
4597	MVD	Autosomal dominant inheritance	HP:0000006
4597	MVD	Squamous cell carcinoma	HP:0002860
4597	MVD	Parakeratosis	HP:0001036
4597	MVD	Pruritus	HP:0000989
4597	MVD	Porokeratosis	HP:0200044
4598	MVK	Aplasia/Hypoplasia of the skin	HP:0008065
4598	MVK	Urticaria	HP:0001025
4598	MVK	Cataract	HP:0000518
4598	MVK	Autosomal dominant inheritance	HP:0000006
4598	MVK	Autosomal recessive inheritance	HP:0000007
4598	MVK	Hypermelanotic macule	HP:0001034
4598	MVK	Generalized hypotonia	HP:0001290
4598	MVK	Headache	HP:0002315
4598	MVK	Cerebral atrophy	HP:0002059
4598	MVK	Dolichocephaly	HP:0000268
4598	MVK	Psychomotor retardation	HP:0025356
4598	MVK	Parakeratosis	HP:0001036
4598	MVK	Arthralgia	HP:0002829
4598	MVK	Vertigo	HP:0002321
4598	MVK	Nyctalopia	HP:0000662
4598	MVK	Progressive cerebellar ataxia	HP:0002073
4598	MVK	Peritonitis	HP:0002586
4598	MVK	Lymphadenopathy	HP:0002716
4598	MVK	Migraine	HP:0002076
4598	MVK	Optic disc pallor	HP:0000543
4598	MVK	Erythema	HP:0010783
4598	MVK	Agenesis of cerebellar vermis	HP:0002335
4598	MVK	Recurrent fever	HP:0001954
4598	MVK	Elevated serum creatine kinase	HP:0003236
4598	MVK	Fluctuating hepatomegaly	HP:0006564
4598	MVK	Acrocyanosis	HP:0001063
4598	MVK	Aciduria	HP:0012072
4598	MVK	Squamous cell carcinoma	HP:0002860
4598	MVK	Leukocytosis	HP:0001974
4598	MVK	Increased circulating IgA level	HP:0003261
4598	MVK	Delayed skeletal maturation	HP:0002750
4598	MVK	Gastrointestinal hemorrhage	HP:0002239
4598	MVK	Kyphoscoliosis	HP:0002751
4598	MVK	Hepatomegaly	HP:0002240
4598	MVK	Hyperkeratosis	HP:0000962
4598	MVK	Triangular face	HP:0000325
4598	MVK	Cerebral cortical atrophy	HP:0002120
4598	MVK	Vasculitis	HP:0002633
4598	MVK	Edema	HP:0000969
4598	MVK	Splenomegaly	HP:0001744
4598	MVK	Blue sclerae	HP:0000592
4598	MVK	Thrombocytopenia	HP:0001873
4598	MVK	Purpura	HP:0000979
4598	MVK	Normocytic hypoplastic anemia	HP:0004819
4598	MVK	Nail dystrophy	HP:0008404
4598	MVK	Arthritis	HP:0001369
4598	MVK	Skin rash	HP:0000988
4598	MVK	Pruritus	HP:0000989
4598	MVK	Vomiting	HP:0002013
4598	MVK	Diarrhea	HP:0002014
4598	MVK	Intestinal obstruction	HP:0005214
4598	MVK	Elevated hepatic transaminase	HP:0002910
4598	MVK	Cutaneous photosensitivity	HP:0000992
4598	MVK	Limitation of joint mobility	HP:0001376
4598	MVK	Intellectual disability	HP:0001249
4598	MVK	Papule	HP:0200034
4598	MVK	Short stature	HP:0004322
4598	MVK	Seizures	HP:0001250
4598	MVK	Ataxia	HP:0001251
4598	MVK	Recurrent aphthous stomatitis	HP:0011107
4598	MVK	Muscular hypotonia	HP:0001252
4598	MVK	Failure to thrive	HP:0001508
4598	MVK	Growth delay	HP:0001510
4598	MVK	Posteriorly rotated ears	HP:0000358
4598	MVK	Abdominal pain	HP:0002027
4598	MVK	Elevated erythrocyte sedimentation rate	HP:0003565
4598	MVK	Downslanted palpebral fissures	HP:0000494
4598	MVK	Large fontanelles	HP:0000239
4598	MVK	Global developmental delay	HP:0001263
4598	MVK	Porokeratosis	HP:0200044
4598	MVK	Low-set, posteriorly rotated ears	HP:0000368
4598	MVK	Low-set ears	HP:0000369
4598	MVK	Cerebellar atrophy	HP:0001272
4598	MVK	Neutrophilia	HP:0011897
4598	MVK	Morbilliform rash	HP:0012282
4598	MVK	Microcephaly	HP:0000252
4598	MVK	Fluctuating splenomegaly	HP:0006268
4598	MVK	Rod-cone dystrophy	HP:0000510
4598	MVK	Myalgia	HP:0003326
4598	MVK	Nystagmus	HP:0000639
4601	MXI1	Somatic mutation	HP:0001428
4601	MXI1	Autosomal dominant inheritance	HP:0000006
4601	MXI1	Prostate cancer	HP:0012125
4604	MYBPC1	Narrow mouth	HP:0000160
4604	MYBPC1	Joint contracture of the hand	HP:0009473
4604	MYBPC1	Camptodactyly	HP:0012385
4604	MYBPC1	Talipes equinovarus	HP:0001762
4604	MYBPC1	Skeletal muscle atrophy	HP:0003202
4604	MYBPC1	Autosomal dominant inheritance	HP:0000006
4604	MYBPC1	Autosomal recessive inheritance	HP:0000007
4604	MYBPC1	Abnormality of the hip bone	HP:0003272
4604	MYBPC1	Joint stiffness	HP:0001387
4604	MYBPC1	Camptodactyly of finger	HP:0100490
4604	MYBPC1	Rocker bottom foot	HP:0001838
4604	MYBPC1	Contractures involving the joints of the feet	HP:0008366
4604	MYBPC1	Distal arthrogryposis	HP:0005684
4604	MYBPC1	Arthrogryposis multiplex congenita	HP:0002804
4604	MYBPC1	Ulnar deviation of finger	HP:0009465
4604	MYBPC1	Talipes	HP:0001883
4604	MYBPC1	Overlapping fingers	HP:0010557
4604	MYBPC1	Adducted thumb	HP:0001181
4607	MYBPC3	EMG abnormality	HP:0003457
4607	MYBPC3	Abnormality of neutrophils	HP:0001874
4607	MYBPC3	Lipoatrophy	HP:0100578
4607	MYBPC3	Elevated serum creatine kinase	HP:0003236
4607	MYBPC3	Palmoplantar keratoderma	HP:0000982
4607	MYBPC3	Autosomal dominant inheritance	HP:0000006
4607	MYBPC3	Sensorineural hearing impairment	HP:0000407
4607	MYBPC3	Hypertrophic cardiomyopathy	HP:0001639
4607	MYBPC3	Left ventricular noncompaction	HP:0030682
4607	MYBPC3	Dilated cardiomyopathy	HP:0001644
4607	MYBPC3	Myopathy	HP:0003198
4609	MYC	Burkitt lymphoma	HP:0030080
4609	MYC	Immunodeficiency	HP:0002721
4609	MYC	Sporadic	HP:0003745
4609	MYC	Nausea and vomiting	HP:0002017
4609	MYC	Abnormality of the pancreas	HP:0001732
4609	MYC	Hyperuricemia	HP:0002149
4609	MYC	Neoplasm of the oral cavity	HP:0100649
4609	MYC	Abnormality of the ovary	HP:0000137
4609	MYC	Abdominal pain	HP:0002027
4609	MYC	Abnormality of the lymph nodes	HP:0002733
4609	MYC	Abnormality of the spleen	HP:0001743
4609	MYC	Abnormality of the liver	HP:0001392
4609	MYC	Abnormality of bone marrow cell morphology	HP:0005561
4609	MYC	Increased lactate dehydrogenase activity	HP:0025435
4609	MYC	Intestinal obstruction	HP:0005214
4609	MYC	Gastrointestinal hemorrhage	HP:0002239
4609	MYC	Decreased proportion of CD4-positive T cells	HP:0005407
4613	MYCN	Facial asymmetry	HP:0000324
4613	MYCN	Blepharophimosis	HP:0000581
4613	MYCN	Vocal cord paralysis	HP:0001605
4613	MYCN	Triangular face	HP:0000325
4613	MYCN	Annular pancreas	HP:0001734
4613	MYCN	Autosomal dominant inheritance	HP:0000006
4613	MYCN	Upslanted palpebral fissure	HP:0000582
4613	MYCN	Duodenal atresia	HP:0002247
4613	MYCN	Elevated urinary catecholamines	HP:0011976
4613	MYCN	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	HP:0009161
4613	MYCN	Short palpebral fissure	HP:0012745
4613	MYCN	Prominent occiput	HP:0000269
4613	MYCN	Anteverted nares	HP:0000463
4613	MYCN	Tracheoesophageal fistula	HP:0002575
4613	MYCN	Asplenia	HP:0001746
4613	MYCN	Accessory spleen	HP:0001747
4613	MYCN	2-3 toe syndactyly	HP:0004691
4613	MYCN	4-5 toe syndactyly	HP:0004692
4613	MYCN	Polysplenia	HP:0001748
4613	MYCN	Decreased fetal movement	HP:0001558
4613	MYCN	Neoplasm of the nervous system	HP:0004375
4613	MYCN	Polyhydramnios	HP:0001561
4613	MYCN	High palate	HP:0000218
4613	MYCN	Micrognathia	HP:0000347
4613	MYCN	Epicanthus	HP:0000286
4613	MYCN	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	HP:0009568
4613	MYCN	Narrow palpebral fissure	HP:0045025
4613	MYCN	Intellectual disability	HP:0001249
4613	MYCN	Posteriorly rotated ears	HP:0000358
4613	MYCN	Short toe	HP:0001831
4613	MYCN	Everted lower lip vermilion	HP:0000232
4613	MYCN	Patent ductus arteriosus	HP:0001643
4613	MYCN	Small anterior fontanelle	HP:0000237
4613	MYCN	Hearing impairment	HP:0000365
4613	MYCN	Wide nasal bridge	HP:0000431
4613	MYCN	Esophageal atresia	HP:0002032
4613	MYCN	Specific learning disability	HP:0001328
4613	MYCN	Low-set ears	HP:0000369
4613	MYCN	Depressed nasal tip	HP:0000437
4613	MYCN	Thick vermilion border	HP:0012471
4613	MYCN	Microcephaly	HP:0000252
4615	MYD88	Urticaria	HP:0001025
4615	MYD88	Polyclonal elevation of IgM	HP:0003459
4615	MYD88	Monoclonal immunoglobulin M proteinemia	HP:0005508
4615	MYD88	Autosomal dominant inheritance	HP:0000006
4615	MYD88	Proptosis	HP:0000520
4615	MYD88	Stroke	HP:0001297
4615	MYD88	Vertigo	HP:0002321
4615	MYD88	Impaired lymphocyte transformation with phytohemagglutinin	HP:0003347
4615	MYD88	Reduced consciousness/confusion	HP:0004372
4615	MYD88	Fever	HP:0001945
4615	MYD88	Pleural effusion	HP:0002202
4615	MYD88	Lymphadenopathy	HP:0002716
4615	MYD88	Migraine	HP:0002076
4615	MYD88	Recurrent bacterial skin infections	HP:0005406
4615	MYD88	Recurrent infections	HP:0002719
4615	MYD88	Immunodeficiency	HP:0002721
4615	MYD88	Epistaxis	HP:0000421
4615	MYD88	Cranial nerve paralysis	HP:0006824
4615	MYD88	Cryoglobulinemia	HP:0100778
4615	MYD88	Respiratory insufficiency	HP:0002093
4615	MYD88	Memory impairment	HP:0002354
4615	MYD88	Periorbital edema	HP:0100539
4615	MYD88	Retinal hemorrhage	HP:0000573
4615	MYD88	Gastrointestinal hemorrhage	HP:0002239
4615	MYD88	Hepatomegaly	HP:0002240
4615	MYD88	Pulmonary infiltrates	HP:0002113
4615	MYD88	Cutis marmorata	HP:0000965
4615	MYD88	Vasculitis	HP:0002633
4615	MYD88	Splenomegaly	HP:0001744
4615	MYD88	Abnormality of neutrophils	HP:0001874
4615	MYD88	Purpura	HP:0000979
4615	MYD88	Renal insufficiency	HP:0000083
4615	MYD88	Pallor	HP:0000980
4615	MYD88	Multifocal epileptiform discharges	HP:0010841
4615	MYD88	Fatigue	HP:0012378
4615	MYD88	Diarrhea	HP:0002014
4615	MYD88	Gingival bleeding	HP:0000225
4615	MYD88	Ataxia	HP:0001251
4615	MYD88	Congestive heart failure	HP:0001635
4615	MYD88	Peripheral neuropathy	HP:0009830
4615	MYD88	Malabsorption	HP:0002024
4615	MYD88	Lymphoma	HP:0002665
4615	MYD88	Normocytic anemia	HP:0001897
4615	MYD88	Hearing impairment	HP:0000365
4615	MYD88	Elevated erythrocyte sedimentation rate	HP:0003565
4615	MYD88	Abnormal retinal vascular morphology	HP:0008046
4615	MYD88	Hypercoagulability	HP:0100724
4615	MYD88	Leukemia	HP:0001909
4615	MYD88	Pedal edema	HP:0010741
4615	MYD88	Anorexia	HP:0002039
4615	MYD88	Polyneuropathy	HP:0001271
4617	MYF5	External ophthalmoplegia	HP:0000544
4617	MYF5	Hypotropia	HP:0025584
4617	MYF5	Exotropia	HP:0000577
4617	MYF5	Short ribs	HP:0000773
4617	MYF5	Pseudoarthrosis	HP:0005864
4617	MYF5	Missing ribs	HP:0000921
4617	MYF5	Scoliosis	HP:0002650
4617	MYF5	Ptosis	HP:0000508
4617	MYF5	Basilar invagination	HP:0012366
4618	MYF6	EMG: myopathic abnormalities	HP:0003458
4618	MYF6	Macrocephaly at birth	HP:0004488
4618	MYF6	Generalized hypotonia	HP:0001290
4618	MYF6	Delayed gross motor development	HP:0002194
4618	MYF6	Urinary incontinence	HP:0000020
4618	MYF6	Spontaneous abortion	HP:0005268
4618	MYF6	Peripheral axonal neuropathy	HP:0003477
4618	MYF6	Calf muscle hypertrophy	HP:0008981
4618	MYF6	Decreased fetal movement	HP:0001558
4618	MYF6	Cavernous hemangioma	HP:0001048
4618	MYF6	Polyhydramnios	HP:0001561
4618	MYF6	Areflexia of lower limbs	HP:0002522
4618	MYF6	Exercise-induced myalgia	HP:0003738
4618	MYF6	Type 1 muscle fiber predominance	HP:0003803
4618	MYF6	Cryptorchidism	HP:0000028
4618	MYF6	Abnormality of the foot musculature	HP:0001436
4618	MYF6	Neonatal asphyxia	HP:0012768
4618	MYF6	External ophthalmoplegia	HP:0000544
4618	MYF6	Proximal muscle weakness in lower limbs	HP:0008994
4618	MYF6	Pyloric stenosis	HP:0002021
4618	MYF6	Proximal muscle weakness in upper limbs	HP:0008997
4618	MYF6	Centrally nucleated skeletal muscle fibers	HP:0003687
4618	MYF6	Large for gestational age	HP:0001520
4618	MYF6	Muscle fibrillation	HP:0010546
4618	MYF6	Thin ribs	HP:0000883
4618	MYF6	Difficulty walking	HP:0002355
4618	MYF6	Mildly elevated creatine kinase	HP:0008180
4618	MYF6	Respiratory insufficiency due to muscle weakness	HP:0002747
4618	MYF6	Ptosis	HP:0000508
4618	MYF6	Malignant hyperthermia	HP:0002047
4620	MYH2	Autosomal dominant inheritance	HP:0000006
4620	MYH2	Autosomal recessive inheritance	HP:0000007
4620	MYH2	Muscle fiber inclusion bodies	HP:0100299
4620	MYH2	Myopathic facies	HP:0002058
4620	MYH2	Scapular winging	HP:0003691
4620	MYH2	Neck muscle weakness	HP:0000467
4620	MYH2	Waddling gait	HP:0002515
4620	MYH2	Congenital contracture	HP:0002803
4620	MYH2	Variable expressivity	HP:0003828
4620	MYH2	Proximal muscle weakness	HP:0003701
4620	MYH2	Ophthalmoplegia	HP:0000602
4620	MYH2	High palate	HP:0000218
4620	MYH2	Scoliosis	HP:0002650
4620	MYH2	Generalized muscle weakness	HP:0003324
4620	MYH2	Distal muscle weakness	HP:0002460
4620	MYH2	Ptosis	HP:0000508
4620	MYH2	Myopathy	HP:0003198
4621	MYH3	Joint contracture of the hand	HP:0009473
4621	MYH3	Autosomal dominant inheritance	HP:0000006
4621	MYH3	Hip dislocation	HP:0002827
4621	MYH3	Arthralgia	HP:0002829
4621	MYH3	Multiple pterygia	HP:0001040
4621	MYH3	Malar flattening	HP:0000272
4621	MYH3	Narrow face	HP:0000275
4621	MYH3	Prenatal movement abnormality	HP:0001557
4621	MYH3	Decreased fetal movement	HP:0001558
4621	MYH3	Inguinal hernia	HP:0000023
4621	MYH3	Polyhydramnios	HP:0001561
4621	MYH3	Oligohydramnios	HP:0001562
4621	MYH3	Cryptorchidism	HP:0000028
4621	MYH3	Epicanthus	HP:0000286
4621	MYH3	Mask-like facies	HP:0000298
4621	MYH3	Muscle weakness	HP:0001324
4621	MYH3	Rocker bottom foot	HP:0001838
4621	MYH3	Abnormal auditory evoked potentials	HP:0006958
4621	MYH3	Mandibular prognathia	HP:0000303
4621	MYH3	Metatarsus adductus	HP:0001840
4621	MYH3	Chin with H-shaped crease	HP:0011824
4621	MYH3	Distal arthrogryposis	HP:0005684
4621	MYH3	Calcaneovalgus deformity	HP:0001848
4621	MYH3	Hypertelorism	HP:0000316
4621	MYH3	Overlapping fingers	HP:0010557
4621	MYH3	Hypoplasia of the brainstem	HP:0002365
4621	MYH3	Triangular face	HP:0000325
4621	MYH3	Blepharophimosis	HP:0000581
4621	MYH3	Nasal speech	HP:0001611
4621	MYH3	Flat face	HP:0012368
4621	MYH3	Craniosynostosis	HP:0001363
4621	MYH3	Abnormality of the ear	HP:0000598
4621	MYH3	Long philtrum	HP:0000343
4621	MYH3	Breech presentation	HP:0001623
4621	MYH3	Scoliosis	HP:0002650
4621	MYH3	Whistling appearance	HP:0000346
4621	MYH3	Micrognathia	HP:0000347
4621	MYH3	Talipes	HP:0001883
4621	MYH3	Joint dislocation	HP:0001373
4621	MYH3	Vertebral segmentation defect	HP:0003422
4621	MYH3	Camptodactyly	HP:0012385
4621	MYH3	Aplasia/Hypoplasia of the radius	HP:0006501
4621	MYH3	Joint stiffness	HP:0001387
4621	MYH3	Hearing impairment	HP:0000365
4621	MYH3	Restricted neck movement due to contractures	HP:0005997
4621	MYH3	Low-set, posteriorly rotated ears	HP:0000368
4621	MYH3	Neurological speech impairment	HP:0002167
4621	MYH3	Hemivertebrae	HP:0002937
4621	MYH3	Short nose	HP:0003196
4621	MYH3	Vertebral fusion	HP:0002948
4621	MYH3	Camptodactyly of finger	HP:0100490
4621	MYH3	Prominent nasolabial fold	HP:0005272
4621	MYH3	Protruding ear	HP:0000411
4621	MYH3	Adducted thumb	HP:0001181
4621	MYH3	Recurrent respiratory infections	HP:0002205
4621	MYH3	Narrow mouth	HP:0000160
4621	MYH3	Abnormality of the dentition	HP:0000164
4621	MYH3	Dental crowding	HP:0000678
4621	MYH3	Feeding difficulties in infancy	HP:0008872
4621	MYH3	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
4621	MYH3	Elbow flexion contracture	HP:0002987
4621	MYH3	Underdeveloped nasal alae	HP:0000430
4621	MYH3	Bilateral single transverse palmar creases	HP:0007598
4621	MYH3	Wide nasal bridge	HP:0000431
4621	MYH3	Cleft palate	HP:0000175
4621	MYH3	Tarsal synostosis	HP:0008368
4621	MYH3	Hernia	HP:0100790
4621	MYH3	Abnormality of the skin	HP:0000951
4621	MYH3	Kyphoscoliosis	HP:0002751
4621	MYH3	Postnatal growth retardation	HP:0008897
4621	MYH3	Recurrent fractures	HP:0002757
4621	MYH3	Flexion contracture of toe	HP:0005830
4621	MYH3	Abnormality of the hip bone	HP:0003272
4621	MYH3	Hip contracture	HP:0003273
4621	MYH3	Depressed nasal ridge	HP:0000457
4621	MYH3	Webbed neck	HP:0000465
4621	MYH3	Prominent forehead	HP:0011220
4621	MYH3	Short neck	HP:0000470
4621	MYH3	Wrist flexion contracture	HP:0001239
4621	MYH3	High palate	HP:0000218
4621	MYH3	Absent phalangeal crease	HP:0006109
4621	MYH3	Round ear	HP:0100830
4621	MYH3	Intellectual disability	HP:0001249
4621	MYH3	Short stature	HP:0004322
4621	MYH3	Talipes equinovarus	HP:0001762
4621	MYH3	Seizures	HP:0001250
4621	MYH3	Spina bifida occulta	HP:0003298
4621	MYH3	Shoulder flexion contracture	HP:0003044
4621	MYH3	Failure to thrive	HP:0001508
4621	MYH3	Spondylolisthesis	HP:0003302
4621	MYH3	Strabismus	HP:0000486
4621	MYH3	Ulnar deviation of the wrist	HP:0003049
4621	MYH3	Deeply set eye	HP:0000490
4621	MYH3	Knee flexion contracture	HP:0006380
4621	MYH3	Downslanted palpebral fissures	HP:0000494
4621	MYH3	Small for gestational age	HP:0001518
4621	MYH3	Flexion contracture of finger	HP:0012785
4621	MYH3	Arthrogryposis multiplex congenita	HP:0002804
4621	MYH3	Motor delay	HP:0001270
4621	MYH3	Cerebellar atrophy	HP:0001272
4621	MYH3	Ulnar deviation of finger	HP:0009465
4621	MYH3	Absent palmar crease	HP:0010489
4621	MYH3	Telecanthus	HP:0000506
4621	MYH3	Ptosis	HP:0000508
4621	MYH3	Microcephaly	HP:0000252
4621	MYH3	Malignant hyperthermia	HP:0002047
4621	MYH3	Dimple chin	HP:0010751
4624	MYH6	EMG abnormality	HP:0003457
4624	MYH6	Lipoatrophy	HP:0100578
4624	MYH6	Sudden death	HP:0001699
4624	MYH6	Congestive heart failure	HP:0001635
4624	MYH6	Elevated serum creatine kinase	HP:0003236
4624	MYH6	Autosomal dominant inheritance	HP:0000006
4624	MYH6	Asymmetric septal hypertrophy	HP:0001670
4624	MYH6	Hypertrophic cardiomyopathy	HP:0001639
4624	MYH6	Dilated cardiomyopathy	HP:0001644
4624	MYH6	Abnormality of neutrophils	HP:0001874
4624	MYH6	Subvalvular aortic stenosis	HP:0001682
4624	MYH6	Abnormality of metabolism/homeostasis	HP:0001939
4624	MYH6	Secundum atrial septal defect	HP:0001684
4624	MYH6	Palmoplantar keratoderma	HP:0000982
4624	MYH6	Sensorineural hearing impairment	HP:0000407
4624	MYH6	Arrhythmia	HP:0011675
4624	MYH6	Myopathy	HP:0003198
4625	MYH7	Bulbar palsy	HP:0001283
4625	MYH7	Tibialis muscle weakness	HP:0008963
4625	MYH7	Autosomal dominant inheritance	HP:0000006
4625	MYH7	Autosomal recessive inheritance	HP:0000007
4625	MYH7	Gait disturbance	HP:0001288
4625	MYH7	Infantile onset	HP:0003593
4625	MYH7	Limitation of movement at ankles	HP:0010505
4625	MYH7	Generalized hypotonia	HP:0001290
4625	MYH7	Myopathic facies	HP:0002058
4625	MYH7	Multiple joint contractures	HP:0002828
4625	MYH7	Narrow face	HP:0000275
4625	MYH7	Long face	HP:0000276
4625	MYH7	Decreased fetal movement	HP:0001558
4625	MYH7	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
4625	MYH7	Hand muscle weakness	HP:0030237
4625	MYH7	Decreased patellar reflex	HP:0011808
4625	MYH7	Proximal muscle weakness in lower limbs	HP:0008994
4625	MYH7	Neonatal hypotonia	HP:0001319
4625	MYH7	Left ventricular dysfunction	HP:0005162
4625	MYH7	Respiratory insufficiency	HP:0002093
4625	MYH7	Mandibular prognathia	HP:0000303
4625	MYH7	Steppage gait	HP:0003376
4625	MYH7	Limb joint contracture	HP:0003121
4625	MYH7	Difficulty walking	HP:0002355
4625	MYH7	Microretrognathia	HP:0000308
4625	MYH7	Hypertension	HP:0000822
4625	MYH7	Imperforate tricuspid valve	HP:0011575
4625	MYH7	Tricuspid regurgitation	HP:0005180
4625	MYH7	Nocturnal hypoventilation	HP:0002877
4625	MYH7	Restrictive deficit on pulmonary function testing	HP:0002111
4625	MYH7	Muscle spasm	HP:0003394
4625	MYH7	Foot dorsiflexor weakness	HP:0009027
4625	MYH7	Limited shoulder movement	HP:0006467
4625	MYH7	Arterial thrombosis	HP:0004420
4625	MYH7	Amyotrophy of ankle musculature	HP:0009031
4625	MYH7	Ebstein anomaly of the tricuspid valve	HP:0010316
4625	MYH7	Weak cry	HP:0001612
4625	MYH7	Cerebral ischemia	HP:0002637
4625	MYH7	Abnormality of neutrophils	HP:0001874
4625	MYH7	High pitched voice	HP:0001620
4625	MYH7	Premature birth	HP:0001622
4625	MYH7	Talipes cavus equinovarus	HP:0004696
4625	MYH7	Fatigue	HP:0012378
4625	MYH7	Scoliosis	HP:0002650
4625	MYH7	Ophthalmoplegia	HP:0000602
4625	MYH7	Abnormality of the cardiovascular system	HP:0001626
4625	MYH7	Onset	HP:0003674
4625	MYH7	Slow progression	HP:0003677
4625	MYH7	Congenital hip dislocation	HP:0001374
4625	MYH7	Scapuloperoneal myopathy	HP:0009054
4625	MYH7	Atrial septal defect	HP:0001631
4625	MYH7	Generalized limb muscle atrophy	HP:0009055
4625	MYH7	Limited hip movement	HP:0008800
4625	MYH7	Mitral valve prolapse	HP:0001634
4625	MYH7	Increased muscle lipid content	HP:0009058
4625	MYH7	Congestive heart failure	HP:0001635
4625	MYH7	Centrally nucleated skeletal muscle fibers	HP:0003687
4625	MYH7	Limited neck flexion	HP:0005991
4625	MYH7	Hypertrophic cardiomyopathy	HP:0001639
4625	MYH7	Hip dysplasia	HP:0001385
4625	MYH7	Patent ductus arteriosus	HP:0001643
4625	MYH7	Pulmonary artery hypoplasia	HP:0004971
4625	MYH7	Scapular winging	HP:0003691
4625	MYH7	Limited wrist extension	HP:0006251
4625	MYH7	Dilated cardiomyopathy	HP:0001644
4625	MYH7	Sudden cardiac death	HP:0001645
4625	MYH7	Chronic obstructive pulmonary disease	HP:0006510
4625	MYH7	Bicuspid aortic valve	HP:0001647
4625	MYH7	Weakness of facial musculature	HP:0030319
4625	MYH7	Decreased Achilles reflex	HP:0009072
4625	MYH7	Scapuloperoneal amyotrophy	HP:0003697
4625	MYH7	Generalized amyotrophy	HP:0003700
4625	MYH7	Proximal muscle weakness	HP:0003701
4625	MYH7	Poor head control	HP:0002421
4625	MYH7	Weakness of long finger extensor muscles	HP:0009077
4625	MYH7	EMG: neuropathic changes	HP:0003445
4625	MYH7	Scapuloperoneal weakness	HP:0003704
4625	MYH7	Lumbar hyperlordosis	HP:0002938
4625	MYH7	Calf muscle pseudohypertrophy	HP:0003707
4625	MYH7	Abnormal mitochondria in muscle tissue	HP:0008316
4625	MYH7	Myopathy	HP:0003198
4625	MYH7	Ragged-red muscle fibers	HP:0003200
4625	MYH7	EMG abnormality	HP:0003457
4625	MYH7	EMG: myopathic abnormalities	HP:0003458
4625	MYH7	Right ventricular hypertrophy	HP:0001667
4625	MYH7	Facial palsy	HP:0010628
4625	MYH7	Triceps weakness	HP:0031108
4625	MYH7	Asymmetric septal hypertrophy	HP:0001670
4625	MYH7	Abnormal cardiac septum morphology	HP:0001671
4625	MYH7	Chest pain	HP:0100749
4625	MYH7	Toe extensor amyotrophy	HP:0011916
4625	MYH7	Shoulder girdle muscle atrophy	HP:0003724
4625	MYH7	Coarctation of aorta	HP:0001680
4625	MYH7	Heterogeneous	HP:0001425
4625	MYH7	Delayed gross motor development	HP:0002194
4625	MYH7	Subvalvular aortic stenosis	HP:0001682
4625	MYH7	Abnormality of metabolism/homeostasis	HP:0001939
4625	MYH7	Abnormality of the calf musculature	HP:0001430
4625	MYH7	Sensorineural hearing impairment	HP:0000407
4625	MYH7	Arrhythmia	HP:0011675
4625	MYH7	Distal muscle weakness	HP:0002460
4625	MYH7	Congenital muscular dystrophy	HP:0003741
4625	MYH7	Sudden death	HP:0001699
4625	MYH7	Elevated serum creatine kinase	HP:0003236
4625	MYH7	Upper limb amyotrophy	HP:0009129
4625	MYH7	Type 1 fibers relatively smaller than type 2 fibers	HP:0003755
4625	MYH7	Right ventricular failure	HP:0001708
4625	MYH7	Respiratory insufficiency due to muscle weakness	HP:0002747
4625	MYH7	Left anterior fascicular block	HP:0011711
4625	MYH7	Right bundle branch block	HP:0011712
4625	MYH7	Feeding difficulties	HP:0011968
4625	MYH7	Heart murmur	HP:0030148
4625	MYH7	Muscle fiber atrophy	HP:0100295
4625	MYH7	Childhood onset	HP:0011463
4625	MYH7	Beevor's sign	HP:0030664
4625	MYH7	Increased endomysial connective tissue	HP:0100297
4625	MYH7	Minicore myopathy	HP:0003789
4625	MYH7	Abnormal endocardium morphology	HP:0004306
4625	MYH7	Neck muscle weakness	HP:0000467
4625	MYH7	Waddling gait	HP:0002515
4625	MYH7	Ventricular arrhythmia	HP:0004308
4625	MYH7	Enlargement of the ankles	HP:0003029
4625	MYH7	Palmoplantar keratoderma	HP:0000982
4625	MYH7	High palate	HP:0000218
4625	MYH7	Left ventricular noncompaction	HP:0030682
4625	MYH7	Type 1 muscle fiber predominance	HP:0003803
4625	MYH7	Weakness of orbicularis oculi muscle	HP:0012507
4625	MYH7	Shoulder girdle muscle weakness	HP:0003547
4625	MYH7	Rimmed vacuoles	HP:0003805
4625	MYH7	Dysphagia	HP:0002015
4625	MYH7	Pes cavus	HP:0001761
4625	MYH7	Intellectual disability	HP:0001249
4625	MYH7	Short stature	HP:0004322
4625	MYH7	Lipoatrophy	HP:0100578
4625	MYH7	Pes planus	HP:0001763
4625	MYH7	Muscle fiber splitting	HP:0003555
4625	MYH7	Failure to thrive	HP:0001508
4625	MYH7	Increased variability in muscle fiber diameter	HP:0003557
4625	MYH7	Reduced vital capacity	HP:0002792
4625	MYH7	Spinal rigidity	HP:0003306
4625	MYH7	Hyperlordosis	HP:0003307
4625	MYH7	Mildly elevated creatine kinase	HP:0008180
4625	MYH7	Variable expressivity	HP:0003828
4625	MYH7	Atrial fibrillation	HP:0005110
4625	MYH7	Congenital onset	HP:0003577
4625	MYH7	Progressive muscle weakness	HP:0003323
4625	MYH7	Ptosis	HP:0000508
4625	MYH7	Generalized muscle weakness	HP:0003324
4625	MYH7	Proximal lower limb amyotrophy	HP:0008956
4625	MYH7	Myalgia	HP:0003326
4625	MYH7	Axial muscle weakness	HP:0003327
4626	MYH8	Macrocephaly	HP:0000256
4626	MYH8	Feeding difficulties	HP:0011968
4626	MYH8	Limitation of joint mobility	HP:0001376
4626	MYH8	Short stature	HP:0004322
4626	MYH8	Talipes equinovarus	HP:0001762
4626	MYH8	Abnormality of the musculature	HP:0003011
4626	MYH8	Facial asymmetry	HP:0000324
4626	MYH8	Hammertoe	HP:0001765
4626	MYH8	Autosomal dominant inheritance	HP:0000006
4626	MYH8	Tall chin	HP:0400000
4626	MYH8	Hip dislocation	HP:0002827
4626	MYH8	Symphalangism affecting the phalanges of the hand	HP:0009773
4626	MYH8	Mandibular prognathia	HP:0000303
4626	MYH8	Metatarsus adductus	HP:0001840
4626	MYH8	Deep philtrum	HP:0002002
4626	MYH8	Trismus	HP:0000211
4626	MYH8	Arthrogryposis multiplex congenita	HP:0002804
4626	MYH8	Distal arthrogryposis	HP:0005684
4626	MYH8	Cardiac myxoma	HP:0011672
4626	MYH8	Micrognathia	HP:0000347
4626	MYH8	Ptosis	HP:0000508
4626	MYH8	Cutaneous syndactyly of toes	HP:0010621
4626	MYH8	Dysphagia	HP:0002015
4627	MYH9	Thrombocytopenia	HP:0001873
4627	MYH9	Bruising susceptibility	HP:0000978
4627	MYH9	Prolonged bleeding time	HP:0003010
4627	MYH9	Menorrhagia	HP:0000132
4627	MYH9	Epistaxis	HP:0000421
4627	MYH9	Juvenile onset	HP:0003621
4627	MYH9	Autosomal dominant inheritance	HP:0000006
4627	MYH9	Abnormal thrombosis	HP:0001977
4627	MYH9	Myocardial infarction	HP:0001658
4627	MYH9	Leukocyte inclusion bodies	HP:0040235
4627	MYH9	High-frequency hearing impairment	HP:0005101
4627	MYH9	Giant platelets	HP:0001902
4629	MYH11	Umbilical hernia	HP:0001537
4629	MYH11	Multicystic kidney dysplasia	HP:0000003
4629	MYH11	Omphalocele	HP:0001539
4629	MYH11	Carotid artery dilatation	HP:0012163
4629	MYH11	Intestinal malrotation	HP:0002566
4629	MYH11	Autosomal dominant inheritance	HP:0000006
4629	MYH11	Chest pain	HP:0100749
4629	MYH11	Coronary artery atherosclerosis	HP:0001677
4629	MYH11	Abnormality iris morphology	HP:0000525
4629	MYH11	Arachnodactyly	HP:0001166
4629	MYH11	High, narrow palate	HP:0002705
4629	MYH11	Stroke	HP:0001297
4629	MYH11	Cystic medial necrosis	HP:0012180
4629	MYH11	Megacystis	HP:0000021
4629	MYH11	Transient ischemic attack	HP:0002326
4629	MYH11	Retrognathia	HP:0000278
4629	MYH11	Inguinal hernia	HP:0000023
4629	MYH11	Polyhydramnios	HP:0001561
4629	MYH11	Cryptorchidism	HP:0000028
4629	MYH11	Hypoperistalsis	HP:0100771
4629	MYH11	Microcolon	HP:0004388
4629	MYH11	Dural ectasia	HP:0100775
4629	MYH11	Left ventricular dysfunction	HP:0005162
4629	MYH11	Hypertension	HP:0000822
4629	MYH11	Aortic root aneurysm	HP:0002616
4629	MYH11	Hemoptysis	HP:0002105
4629	MYH11	Pneumothorax	HP:0002107
4629	MYH11	Exertional dyspnea	HP:0002875
4629	MYH11	Hypertelorism	HP:0000316
4629	MYH11	Neoplasm of the heart	HP:0100544
4629	MYH11	Ascending aortic dissection	HP:0004933
4629	MYH11	Cutis marmorata	HP:0000965
4629	MYH11	Abdominal distention	HP:0003270
4629	MYH11	Sepsis	HP:0100806
4629	MYH11	Hydroureter	HP:0000072
4629	MYH11	Aortic aneurysm	HP:0004942
4629	MYH11	Dilatation of the cerebral artery	HP:0004944
4629	MYH11	Mucoid extracellular matrix accumulation	HP:0200146
4629	MYH11	Bruising susceptibility	HP:0000978
4629	MYH11	Descending aortic dissection	HP:0012499
4629	MYH11	Peripheral arterial stenosis	HP:0004950
4629	MYH11	Subarachnoid hemorrhage	HP:0002138
4629	MYH11	Scoliosis	HP:0002650
4629	MYH11	Paroxysmal dyspnea	HP:0012763
4629	MYH11	Ischemic stroke	HP:0002140
4629	MYH11	Descending thoracic aorta aneurysm	HP:0004959
4629	MYH11	Nausea and vomiting	HP:0002017
4629	MYH11	Hypovolemia	HP:0011106
4629	MYH11	Tall stature	HP:0000098
4629	MYH11	Abnormal iris pigmentation	HP:0008034
4629	MYH11	Pes planus	HP:0001763
4629	MYH11	Cardiomegaly	HP:0001640
4629	MYH11	Patent ductus arteriosus	HP:0001643
4629	MYH11	Bicuspid aortic valve	HP:0001647
4629	MYH11	Death in infancy	HP:0001522
4629	MYH11	Abdominal aortic aneurysm	HP:0005112
4629	MYH11	Aortic regurgitation	HP:0001659
4629	MYH11	Prenatal maternal abnormality	HP:0002686
4629	MYH11	Abnormality of the sternum	HP:0000766
4633	MYL2	EMG: myopathic abnormalities	HP:0003458
4633	MYL2	Asymmetric septal hypertrophy	HP:0001670
4633	MYL2	Autosomal dominant inheritance	HP:0000006
4633	MYL2	Chest pain	HP:0100749
4633	MYL2	Vertigo	HP:0002321
4633	MYL2	Supraventricular tachycardia	HP:0004755
4633	MYL2	Ventricular tachycardia	HP:0004756
4633	MYL2	Long face	HP:0000276
4633	MYL2	Calf muscle hypertrophy	HP:0008981
4633	MYL2	Decreased fetal movement	HP:0001558
4633	MYL2	Ventricular septal hypertrophy	HP:0005144
4633	MYL2	Polyhydramnios	HP:0001561
4633	MYL2	Cryptorchidism	HP:0000028
4633	MYL2	Recurrent respiratory infections	HP:0002205
4633	MYL2	Type 1 muscle fiber atrophy	HP:0011807
4633	MYL2	Reduced tendon reflexes	HP:0001315
4633	MYL2	Pulmonary hypoplasia	HP:0002089
4633	MYL2	Palpitations	HP:0001962
4633	MYL2	Elbow flexion contracture	HP:0002987
4633	MYL2	Dyspnea	HP:0002094
4633	MYL2	Left ventricular hypertrophy	HP:0001712
4633	MYL2	Tented upper lip vermilion	HP:0010804
4633	MYL2	Respiratory insufficiency due to muscle weakness	HP:0002747
4633	MYL2	Kyphoscoliosis	HP:0002751
4633	MYL2	Ankle contracture	HP:0006466
4633	MYL2	Hip contracture	HP:0003273
4633	MYL2	Weak cry	HP:0001612
4633	MYL2	Waddling gait	HP:0002515
4633	MYL2	Ophthalmoplegia	HP:0000602
4633	MYL2	High palate	HP:0000218
4633	MYL2	Micrognathia	HP:0000347
4633	MYL2	Congenital hip dislocation	HP:0001374
4633	MYL2	Intellectual disability	HP:0001249
4633	MYL2	Short stature	HP:0004322
4633	MYL2	Talipes equinovarus	HP:0001762
4633	MYL2	Failure to thrive	HP:0001508
4633	MYL2	Muscular hypotonia	HP:0001252
4633	MYL2	Reduced vital capacity	HP:0002792
4633	MYL2	Scapular winging	HP:0003691
4633	MYL2	Hyperlordosis	HP:0003307
4633	MYL2	Knee flexion contracture	HP:0006380
4633	MYL2	Joint laxity	HP:0001388
4633	MYL2	Dilated cardiomyopathy	HP:0001644
4633	MYL2	Sudden cardiac death	HP:0001645
4633	MYL2	Fatigable weakness of bulbar muscles	HP:0030192
4633	MYL2	Poor suck	HP:0002033
4633	MYL2	Flexion contracture of finger	HP:0012785
4633	MYL2	Mildly elevated creatine kinase	HP:0008180
4633	MYL2	Motor delay	HP:0001270
4633	MYL2	T-wave inversion	HP:0010872
4633	MYL2	Ptosis	HP:0000508
4633	MYL2	Generalized muscle weakness	HP:0003324
4633	MYL2	Ventricular fibrillation	HP:0001663
4633	MYL2	Pectus excavatum	HP:0000767
4634	MYL3	Congestive heart failure	HP:0001635
4634	MYL3	Autosomal dominant inheritance	HP:0000006
4634	MYL3	Autosomal recessive inheritance	HP:0000007
4634	MYL3	Hypertrophic cardiomyopathy	HP:0001639
4634	MYL3	Palpitations	HP:0001962
4634	MYL3	Sudden cardiac death	HP:0001645
4634	MYL3	Left ventricular hypertrophy	HP:0001712
4634	MYL3	T-wave inversion	HP:0010872
4634	MYL3	Exertional dyspnea	HP:0002875
4634	MYL3	Restrictive cardiomyopathy	HP:0001723
4634	MYL3	Endocardial fibrosis	HP:0006685
4634	MYL3	Ventricular fibrillation	HP:0001663
4634	MYL3	Left atrial enlargement	HP:0031295
4635	MYL4	Permanent atrial fibrillation	HP:0004754
4635	MYL4	Paroxysmal atrial fibrillation	HP:0004757
4635	MYL4	Autosomal dominant inheritance	HP:0000006
4635	MYL4	Palpitations	HP:0001962
4635	MYL4	Bradycardia	HP:0001662
4638	MYLK	Umbilical hernia	HP:0001537
4638	MYLK	Multicystic kidney dysplasia	HP:0000003
4638	MYLK	Omphalocele	HP:0001539
4638	MYLK	Carotid artery dilatation	HP:0012163
4638	MYLK	Intestinal malrotation	HP:0002566
4638	MYLK	Autosomal dominant inheritance	HP:0000006
4638	MYLK	Chest pain	HP:0100749
4638	MYLK	Coronary artery atherosclerosis	HP:0001677
4638	MYLK	Abnormality iris morphology	HP:0000525
4638	MYLK	Arachnodactyly	HP:0001166
4638	MYLK	High, narrow palate	HP:0002705
4638	MYLK	Megacystis	HP:0000021
4638	MYLK	Transient ischemic attack	HP:0002326
4638	MYLK	Retrognathia	HP:0000278
4638	MYLK	Inguinal hernia	HP:0000023
4638	MYLK	Polyhydramnios	HP:0001561
4638	MYLK	Cryptorchidism	HP:0000028
4638	MYLK	Hypoperistalsis	HP:0100771
4638	MYLK	Microcolon	HP:0004388
4638	MYLK	Dural ectasia	HP:0100775
4638	MYLK	Left ventricular dysfunction	HP:0005162
4638	MYLK	Hypertension	HP:0000822
4638	MYLK	Aortic root aneurysm	HP:0002616
4638	MYLK	Hemoptysis	HP:0002105
4638	MYLK	Pneumothorax	HP:0002107
4638	MYLK	Exertional dyspnea	HP:0002875
4638	MYLK	Hypertelorism	HP:0000316
4638	MYLK	Neoplasm of the heart	HP:0100544
4638	MYLK	Ascending aortic dissection	HP:0004933
4638	MYLK	Cutis marmorata	HP:0000965
4638	MYLK	Abdominal distention	HP:0003270
4638	MYLK	Sepsis	HP:0100806
4638	MYLK	Hydroureter	HP:0000072
4638	MYLK	Aortic aneurysm	HP:0004942
4638	MYLK	Dilatation of the cerebral artery	HP:0004944
4638	MYLK	Mucoid extracellular matrix accumulation	HP:0200146
4638	MYLK	Bruising susceptibility	HP:0000978
4638	MYLK	Descending aortic dissection	HP:0012499
4638	MYLK	Peripheral arterial stenosis	HP:0004950
4638	MYLK	Aortic dissection	HP:0002647
4638	MYLK	Subarachnoid hemorrhage	HP:0002138
4638	MYLK	Scoliosis	HP:0002650
4638	MYLK	Paroxysmal dyspnea	HP:0012763
4638	MYLK	Ischemic stroke	HP:0002140
4638	MYLK	Descending thoracic aorta aneurysm	HP:0004959
4638	MYLK	Nausea and vomiting	HP:0002017
4638	MYLK	Hypovolemia	HP:0011106
4638	MYLK	Tall stature	HP:0000098
4638	MYLK	Pes planus	HP:0001763
4638	MYLK	Cardiomegaly	HP:0001640
4638	MYLK	Patent ductus arteriosus	HP:0001643
4638	MYLK	Bicuspid aortic valve	HP:0001647
4638	MYLK	Death in infancy	HP:0001522
4638	MYLK	Abdominal aortic aneurysm	HP:0005112
4638	MYLK	Aortic regurgitation	HP:0001659
4638	MYLK	Prenatal maternal abnormality	HP:0002686
4638	MYLK	Abnormality of the sternum	HP:0000766
4643	MYO1E	Hypoalbuminemia	HP:0003073
4643	MYO1E	Focal segmental glomerulosclerosis	HP:0000097
4643	MYO1E	Nephrotic syndrome	HP:0000100
4643	MYO1E	Hematuria	HP:0000790
4643	MYO1E	Autosomal recessive inheritance	HP:0000007
4643	MYO1E	Edema	HP:0000969
4643	MYO1E	Progressive	HP:0003676
4643	MYO1E	Tubular atrophy	HP:0000092
4643	MYO1E	Proteinuria	HP:0000093
4643	MYO1E	Chronic kidney disease	HP:0012622
4644	MYO5A	Hyperlipidemia	HP:0003077
4644	MYO5A	Autosomal recessive inheritance	HP:0000007
4644	MYO5A	Optic atrophy	HP:0000648
4644	MYO5A	Infantile onset	HP:0003593
4644	MYO5A	Macular dystrophy	HP:0007754
4644	MYO5A	Generalized hypotonia	HP:0001290
4644	MYO5A	Diplopia	HP:0000651
4644	MYO5A	Rigidity	HP:0002063
4644	MYO5A	Generalized hyperpigmentation	HP:0007440
4644	MYO5A	Cerebral calcification	HP:0002514
4644	MYO5A	Partial albinism	HP:0007443
4644	MYO5A	Cerebral cortical hemiatrophy	HP:0100308
4644	MYO5A	Recurrent respiratory infections	HP:0002205
4644	MYO5A	Abnormality of the cerebellar vermis	HP:0002334
4644	MYO5A	Hypopigmentation of hair	HP:0005599
4644	MYO5A	Muscle stiffness	HP:0003552
4644	MYO5A	Myopia	HP:0000545
4644	MYO5A	Intellectual disability	HP:0001249
4644	MYO5A	Seizures	HP:0001250
4644	MYO5A	Ataxia	HP:0001251
4644	MYO5A	Muscular hypotonia	HP:0001252
4644	MYO5A	White hair	HP:0011364
4644	MYO5A	Strabismus	HP:0000486
4644	MYO5A	Premature graying of hair	HP:0002216
4644	MYO5A	Retinopathy	HP:0000488
4644	MYO5A	Spasticity	HP:0001257
4644	MYO5A	Cerebellar hypoplasia	HP:0001321
4644	MYO5A	Silver-gray hair	HP:0002218
4644	MYO5A	Melanin pigment aggregation in hair shafts	HP:0002220
4644	MYO5A	Global developmental delay	HP:0001263
4644	MYO5A	Specific learning disability	HP:0001328
4644	MYO5A	Accumulation of melanosomes in melanocytes	HP:0001008
4644	MYO5A	Hypopigmentation of the skin	HP:0001010
4644	MYO5A	Iris hypopigmentation	HP:0007730
4644	MYO5A	Abnormality of movement	HP:0100022
4644	MYO5A	Tremor	HP:0001337
4644	MYO5A	Aplasia/Hypoplasia of the macula	HP:0008059
4644	MYO5A	Hypertonia	HP:0001276
4644	MYO5A	Subcortical cerebral atrophy	HP:0012157
4644	MYO5A	Nystagmus	HP:0000639
4645	MYO5B	Protracted diarrhea	HP:0004385
4645	MYO5B	Hypovolemia	HP:0011106
4645	MYO5B	Abdominal distention	HP:0003270
4645	MYO5B	Growth delay	HP:0001510
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
4647	MYO7A	Abnormal electroretinogram	HP:0000512
4647	MYO7A	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4647	MYO7A	Abnormality of dental color	HP:0011073
4647	MYO7A	Autosomal dominant inheritance	HP:0000006
4647	MYO7A	Cataract	HP:0000518
4647	MYO7A	Autosomal recessive inheritance	HP:0000007
4647	MYO7A	Cerebral cortical atrophy	HP:0002120
4647	MYO7A	Depressivity	HP:0000716
4647	MYO7A	Schizophrenia	HP:0100753
4647	MYO7A	Heterogeneous	HP:0001425
4647	MYO7A	Vertigo	HP:0002321
4647	MYO7A	Nyctalopia	HP:0000662
4647	MYO7A	Sensorineural hearing impairment	HP:0000407
4647	MYO7A	Hemianopia	HP:0012377
4647	MYO7A	Vestibular hypofunction	HP:0001756
4647	MYO7A	Carious teeth	HP:0000670
4647	MYO7A	Intellectual disability	HP:0001249
4647	MYO7A	Myopia	HP:0000545
4647	MYO7A	Hallucinations	HP:0000738
4647	MYO7A	Ataxia	HP:0001251
4647	MYO7A	Anxiety	HP:0000739
4647	MYO7A	Undetectable electroretinogram	HP:0000550
4647	MYO7A	Abnormality of dental enamel	HP:0000682
4647	MYO7A	Absent vestibular function	HP:0008555
4647	MYO7A	Bilateral sensorineural hearing impairment	HP:0008619
4647	MYO7A	Global developmental delay	HP:0001263
4647	MYO7A	Iris hypopigmentation	HP:0007730
4647	MYO7A	High hypermetropia	HP:0008499
4647	MYO7A	Microdontia	HP:0000691
4647	MYO7A	Motor delay	HP:0001270
4647	MYO7A	Abnormal cochlea morphology	HP:0000375
4647	MYO7A	Congenital onset	HP:0003577
4647	MYO7A	Visual loss	HP:0000572
4647	MYO7A	Subcortical cerebral atrophy	HP:0012157
4647	MYO7A	Rod-cone dystrophy	HP:0000510
4647	MYO7A	Scotoma	HP:0000575
4647	MYO7A	Nystagmus	HP:0000639
4649	MYO9A	Pectus carinatum	HP:0000768
4649	MYO9A	Narrow jaw	HP:0012801
4649	MYO9A	EMG: myopathic abnormalities	HP:0003458
4649	MYO9A	Bulbar palsy	HP:0001283
4649	MYO9A	Areflexia	HP:0001284
4649	MYO9A	Central hypotonia	HP:0011398
4649	MYO9A	Motor polyneuropathy	HP:0007178
4649	MYO9A	Diplopia	HP:0000651
4649	MYO9A	Oculomotor apraxia	HP:0000657
4649	MYO9A	Fatigable weakness	HP:0003473
4649	MYO9A	Toe walking	HP:0040083
4649	MYO9A	Long face	HP:0000276
4649	MYO9A	Episodic respiratory distress	HP:0004885
4649	MYO9A	Decreased fetal movement	HP:0001558
4649	MYO9A	Sensorineural hearing impairment	HP:0000407
4649	MYO9A	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
4649	MYO9A	Polyhydramnios	HP:0001561
4649	MYO9A	Recurrent respiratory infections	HP:0002205
4649	MYO9A	Central sleep apnea	HP:0010536
4649	MYO9A	Muscle weakness	HP:0001324
4649	MYO9A	Respiratory insufficiency	HP:0002093
4649	MYO9A	Difficulty walking	HP:0002355
4649	MYO9A	Microretrognathia	HP:0000308
4649	MYO9A	Esotropia	HP:0000565
4649	MYO9A	Frontalis muscle weakness	HP:0004661
4649	MYO9A	Obstructive sleep apnea	HP:0002870
4649	MYO9A	Respiratory arrest	HP:0005943
4649	MYO9A	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
4649	MYO9A	Staring gaze	HP:0025401
4649	MYO9A	Easy fatigability	HP:0003388
4649	MYO9A	EMG: impaired neuromuscular transmission	HP:0100285
4649	MYO9A	Kyphoscoliosis	HP:0002751
4649	MYO9A	Delayed ability to walk	HP:0031936
4649	MYO9A	Feeding difficulties	HP:0011968
4649	MYO9A	Cyanosis	HP:0000961
4649	MYO9A	Sudden episodic apnea	HP:0002882
4649	MYO9A	Stridor	HP:0010307
4649	MYO9A	Muscle fiber atrophy	HP:0100295
4649	MYO9A	Nasal speech	HP:0001611
4649	MYO9A	Weak cry	HP:0001612
4649	MYO9A	Nasal regurgitation	HP:0011469
4649	MYO9A	Dysphonia	HP:0001618
4649	MYO9A	Neck muscle weakness	HP:0000467
4649	MYO9A	Waddling gait	HP:0002515
4649	MYO9A	EEG with polyspike wave complexes	HP:0002392
4649	MYO9A	Ophthalmoplegia	HP:0000602
4649	MYO9A	High palate	HP:0000218
4649	MYO9A	Distal lower limb muscle weakness	HP:0009053
4649	MYO9A	Congenital hip dislocation	HP:0001374
4649	MYO9A	Dysphagia	HP:0002015
4649	MYO9A	Camptodactyly	HP:0012385
4649	MYO9A	Pes cavus	HP:0001761
4649	MYO9A	Intellectual disability	HP:0001249
4649	MYO9A	Seizures	HP:0001250
4649	MYO9A	Ataxia	HP:0001251
4649	MYO9A	Gastroesophageal reflux	HP:0002020
4649	MYO9A	Spinal rigidity	HP:0003306
4649	MYO9A	Joint laxity	HP:0001388
4649	MYO9A	Distal amyotrophy	HP:0003693
4649	MYO9A	Delayed speech and language development	HP:0000750
4649	MYO9A	Low-set ears	HP:0000369
4649	MYO9A	Poor suck	HP:0002033
4649	MYO9A	Hyporeflexia	HP:0001265
4649	MYO9A	Arthrogryposis multiplex congenita	HP:0002804
4649	MYO9A	Proximal muscle weakness	HP:0003701
4649	MYO9A	Poor head control	HP:0002421
4649	MYO9A	Motor delay	HP:0001270
4649	MYO9A	Choking episodes	HP:0030842
4649	MYO9A	Spinal deformities	HP:0008443
4649	MYO9A	Ptosis	HP:0000508
4649	MYO9A	Generalized muscle weakness	HP:0003324
4649	MYO9A	Limb-girdle muscle weakness	HP:0003325
4649	MYO9A	Nystagmus	HP:0000639
4653	MYOC	Abnormal iris vasculature	HP:0007905
4653	MYOC	Myopia	HP:0000545
4653	MYOC	Glaucoma	HP:0000501
4653	MYOC	Autosomal dominant inheritance	HP:0000006
4653	MYOC	Visual loss	HP:0000572
4653	MYOC	Nevus flammeus	HP:0001052
4653	MYOC	Retinal detachment	HP:0000541
4654	MYOD1	Akinesia	HP:0002304
4654	MYOD1	Depressed nasal bridge	HP:0005280
4654	MYOD1	Pterygium	HP:0001059
4654	MYOD1	Fetal akinesia sequence	HP:0001989
4654	MYOD1	Posteriorly rotated ears	HP:0000358
4654	MYOD1	Intrauterine growth retardation	HP:0001511
4654	MYOD1	Hypokinesia	HP:0002375
4654	MYOD1	Pulmonary hypoplasia	HP:0002089
4654	MYOD1	Camptodactyly of finger	HP:0100490
4654	MYOD1	Multiple joint contractures	HP:0002828
4654	MYOD1	Respiratory insufficiency	HP:0002093
4654	MYOD1	Excessive daytime somnolence	HP:0001262
4654	MYOD1	Cleft palate	HP:0000175
4654	MYOD1	Arthrogryposis multiplex congenita	HP:0002804
4654	MYOD1	Generalized amyotrophy	HP:0003700
4654	MYOD1	Dandy-Walker malformation	HP:0001305
4654	MYOD1	Polyhydramnios	HP:0001561
4654	MYOD1	Absent palmar crease	HP:0010489
4654	MYOD1	Scoliosis	HP:0002650
4654	MYOD1	Micrognathia	HP:0000347
4654	MYOD1	Hypertelorism	HP:0000316
4654	MYOD1	Cystic hygroma	HP:0000476
4654	MYOD1	Cryptorchidism	HP:0000028
4654	MYOD1	Intestinal hypoplasia	HP:0005245
127534	GJB4	Abnormal blistering of the skin	HP:0008066
127534	GJB4	Brachydactyly	HP:0001156
127534	GJB4	Neoplasm of the skin	HP:0008069
127534	GJB4	Cataract	HP:0000518
127534	GJB4	Hypermelanotic macule	HP:0001034
127534	GJB4	Patchy palmoplantar keratoderma	HP:0005588
127534	GJB4	Corneal opacity	HP:0007957
127534	GJB4	Palmoplantar keratoderma	HP:0000982
127534	GJB4	Abnormality of cardiovascular system morphology	HP:0030680
127534	GJB4	Protruding ear	HP:0000411
127534	GJB4	Skin rash	HP:0000988
127534	GJB4	Tapered finger	HP:0001182
127534	GJB4	Erythema	HP:0010783
127534	GJB4	Weight loss	HP:0001824
127534	GJB4	Cutaneous photosensitivity	HP:0000992
127534	GJB4	Intellectual disability	HP:0001249
127534	GJB4	Short stature	HP:0004322
127534	GJB4	Abnormal testis morphology	HP:0000035
127534	GJB4	Hearing impairment	HP:0000365
127534	GJB4	Diabetes mellitus	HP:0000819
127534	GJB4	Glaucoma	HP:0000501
127534	GJB4	Generalized hirsutism	HP:0002230
127534	GJB4	Microcephaly	HP:0000252
127534	GJB4	Alopecia	HP:0001596
127534	GJB4	Abnormality of the nail	HP:0001597
127534	GJB4	Dry skin	HP:0000958
340533	NEXMIF	Absent speech	HP:0001344
340533	NEXMIF	Feeding difficulties	HP:0011968
340533	NEXMIF	Short philtrum	HP:0000322
340533	NEXMIF	Ventriculomegaly	HP:0002119
340533	NEXMIF	Cerebral cortical atrophy	HP:0002120
340533	NEXMIF	Absence seizure	HP:0002121
340533	NEXMIF	Generalized myoclonic seizures	HP:0002123
340533	NEXMIF	X-linked recessive inheritance	HP:0001419
340533	NEXMIF	Anteverted nares	HP:0000463
340533	NEXMIF	Severe global developmental delay	HP:0011344
340533	NEXMIF	Urinary incontinence	HP:0000020
340533	NEXMIF	Narrow forehead	HP:0000341
340533	NEXMIF	Status epilepticus	HP:0002133
340533	NEXMIF	Autistic behavior	HP:0000729
340533	NEXMIF	Hypsarrhythmia	HP:0002521
340533	NEXMIF	Stereotypy	HP:0000733
340533	NEXMIF	Hypoplasia of the corpus callosum	HP:0002079
340533	NEXMIF	Intellectual disability	HP:0001249
340533	NEXMIF	Tetraparesis	HP:0002273
340533	NEXMIF	Seizures	HP:0001250
340533	NEXMIF	Ataxia	HP:0001251
340533	NEXMIF	Gastroesophageal reflux	HP:0002020
340533	NEXMIF	Failure to thrive	HP:0001508
340533	NEXMIF	Growth delay	HP:0001510
340533	NEXMIF	Neonatal hypotonia	HP:0001319
340533	NEXMIF	Muscular hypotonia of the trunk	HP:0008936
340533	NEXMIF	Spasticity	HP:0001257
340533	NEXMIF	Prominent nasal bridge	HP:0000426
340533	NEXMIF	Postnatal microcephaly	HP:0005484
340533	NEXMIF	Underdeveloped nasal alae	HP:0000430
340533	NEXMIF	Global developmental delay	HP:0001263
340533	NEXMIF	Hyperactivity	HP:0000752
340533	NEXMIF	Shawl scrotum	HP:0000049
340533	NEXMIF	Poor eye contact	HP:0000817
340533	NEXMIF	Tented upper lip vermilion	HP:0010804
340533	NEXMIF	Esotropia	HP:0000565
340533	NEXMIF	Incomplete penetrance	HP:0003829
340533	NEXMIF	Round face	HP:0000311
340533	NEXMIF	Congenital onset	HP:0003577
340533	NEXMIF	Short nose	HP:0003196
389692	MAFA	Multiple pancreatic beta-cell adenomas	HP:0008194
389692	MAFA	Diabetes mellitus	HP:0000819
389692	MAFA	Autosomal dominant inheritance	HP:0000006
389692	MAFA	Developmental cataract	HP:0000519
389692	MAFA	Hyperinsulinemic hypoglycemia	HP:0000825
389692	MAFA	Developmental glaucoma	HP:0001087
168507	PKD1L1	Atrial situs ambiguous	HP:0011539
168507	PKD1L1	Abdominal situs inversus	HP:0003363
168507	PKD1L1	Pulmonary artery atresia	HP:0004935
168507	PKD1L1	Double outlet right ventricle	HP:0001719
168507	PKD1L1	Autosomal recessive inheritance	HP:0000007
168507	PKD1L1	Unbalanced atrioventricular canal defect	HP:0011579
168507	PKD1L1	Ventricular septal defect	HP:0001629
168507	PKD1L1	Hypoplastic left heart	HP:0004383
4668	NAGA	Telangiectasia of the oral mucosa	HP:0007428
4668	NAGA	Increased urinary O-linked sialopeptides	HP:0003461
4668	NAGA	Cataract	HP:0000518
4668	NAGA	Autosomal recessive inheritance	HP:0000007
4668	NAGA	Optic atrophy	HP:0000648
4668	NAGA	Infantile onset	HP:0003593
4668	NAGA	Generalized hypotonia	HP:0001290
4668	NAGA	Cerebral atrophy	HP:0002059
4668	NAGA	Axonal degeneration	HP:0040078
4668	NAGA	Vertigo	HP:0002321
4668	NAGA	Peripheral axonal neuropathy	HP:0003477
4668	NAGA	Hemiplegia/hemiparesis	HP:0004374
4668	NAGA	Abnormality of extrapyramidal motor function	HP:0002071
4668	NAGA	Sensorineural hearing impairment	HP:0000407
4668	NAGA	Coarse facial features	HP:0000280
4668	NAGA	Aminoaciduria	HP:0003355
4668	NAGA	White mater abnormalities in the posterior periventricular region	HP:0006812
4668	NAGA	Distal muscle weakness	HP:0002460
4668	NAGA	Depressed nasal bridge	HP:0005280
4668	NAGA	Osteopenia	HP:0000938
4668	NAGA	Muscle weakness	HP:0001324
4668	NAGA	Angiokeratoma corporis diffusum	HP:0001071
4668	NAGA	Thick lower lip vermilion	HP:0000179
4668	NAGA	Thick vermilion border	HP:0012471
4668	NAGA	Myoclonus	HP:0001336
4668	NAGA	Abnormality of brainstem morphology	HP:0002363
4668	NAGA	Cognitive impairment	HP:0100543
4668	NAGA	Dry skin	HP:0000958
4668	NAGA	Hepatomegaly	HP:0002240
4668	NAGA	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4668	NAGA	Hyperkeratosis	HP:0000962
4668	NAGA	Hyperreflexia	HP:0001347
4668	NAGA	Developmental regression	HP:0002376
4668	NAGA	Paresthesia	HP:0003401
4668	NAGA	Subcutaneous nodule	HP:0001482
4668	NAGA	Autism	HP:0000717
4668	NAGA	Opacification of the corneal stroma	HP:0007759
4668	NAGA	Distal sensory impairment of all modalities	HP:0003409
4668	NAGA	Lip telangiectasia	HP:0000214
4668	NAGA	Abnormal pyramidal sign	HP:0007256
4668	NAGA	Abnormality of the eye	HP:0000478
4668	NAGA	Intellectual disability	HP:0001249
4668	NAGA	Cerebral visual impairment	HP:0100704
4668	NAGA	Papule	HP:0200034
4668	NAGA	Seizures	HP:0001250
4668	NAGA	Muscular hypotonia	HP:0001252
4668	NAGA	Strabismus	HP:0000486
4668	NAGA	Peripheral neuropathy	HP:0009830
4668	NAGA	Hypertrophic cardiomyopathy	HP:0001639
4668	NAGA	Telangiectasia of the skin	HP:0100585
4668	NAGA	Tinnitus	HP:0000360
4668	NAGA	Cardiomegaly	HP:0001640
4668	NAGA	Intellectual disability, mild	HP:0001256
4668	NAGA	Spasticity	HP:0001257
4668	NAGA	Lymphedema	HP:0001004
4668	NAGA	Hearing impairment	HP:0000365
4668	NAGA	Global developmental delay	HP:0001263
4668	NAGA	Intellectual disability, severe	HP:0010864
4668	NAGA	Generalized amyotrophy	HP:0003700
4668	NAGA	Distal sensory impairment	HP:0002936
4668	NAGA	Adult onset	HP:0003581
4668	NAGA	Nystagmus	HP:0000639
4669	NAGLU	Hepatomegaly	HP:0002240
4669	NAGLU	Thickened ribs	HP:0000900
4669	NAGLU	Asymmetric septal hypertrophy	HP:0001670
4669	NAGLU	Autosomal dominant inheritance	HP:0000006
4669	NAGLU	Autosomal recessive inheritance	HP:0000007
4669	NAGLU	Paresthesia	HP:0003401
4669	NAGLU	Aggressive behavior	HP:0000718
4669	NAGLU	Splenomegaly	HP:0001744
4669	NAGLU	Coarse facial features	HP:0000280
4669	NAGLU	Synophrys	HP:0000664
4669	NAGLU	Progressive	HP:0003676
4669	NAGLU	Diarrhea	HP:0002014
4669	NAGLU	Coarse hair	HP:0002208
4669	NAGLU	Intellectual disability	HP:0001249
4669	NAGLU	Seizures	HP:0001250
4669	NAGLU	Recurrent upper respiratory tract infections	HP:0002788
4669	NAGLU	Juvenile onset	HP:0003621
4669	NAGLU	Cardiomegaly	HP:0001640
4669	NAGLU	Progressive neurologic deterioration	HP:0002344
4669	NAGLU	Joint stiffness	HP:0001387
4669	NAGLU	Hearing impairment	HP:0000365
4669	NAGLU	Ovoid thoracolumbar vertebrae	HP:0003309
4669	NAGLU	Heparan sulfate excretion in urine	HP:0002159
4669	NAGLU	Dysostosis multiplex	HP:0000943
4669	NAGLU	Hirsutism	HP:0001007
4669	NAGLU	Hyperactivity	HP:0000752
4669	NAGLU	Hyporeflexia	HP:0001265
4669	NAGLU	Sensory ataxia	HP:0010871
4669	NAGLU	Sleep disturbance	HP:0002360
4669	NAGLU	Distal sensory impairment	HP:0002936
4669	NAGLU	Dense calvaria	HP:0000250
791114	PWRN1	Clinodactyly	HP:0030084
791114	PWRN1	Acromicria	HP:0031878
791114	PWRN1	Syndactyly	HP:0001159
791114	PWRN1	Generalized hypotonia	HP:0001290
791114	PWRN1	Dolichocephaly	HP:0000268
791114	PWRN1	Primary amenorrhea	HP:0000786
791114	PWRN1	Infertility	HP:0000789
791114	PWRN1	Decreased fetal movement	HP:0001558
791114	PWRN1	Downturned corners of mouth	HP:0002714
791114	PWRN1	Cryptorchidism	HP:0000028
791114	PWRN1	Hypermetropia	HP:0000540
791114	PWRN1	Recurrent respiratory infections	HP:0002205
791114	PWRN1	Carious teeth	HP:0000670
791114	PWRN1	Polyphagia	HP:0002591
791114	PWRN1	Impaired pain sensation	HP:0007328
791114	PWRN1	Sporadic	HP:0003745
791114	PWRN1	Myopia	HP:0000545
791114	PWRN1	Sleep apnea	HP:0010535
791114	PWRN1	Neonatal hypotonia	HP:0001319
791114	PWRN1	Genu valgum	HP:0002857
791114	PWRN1	Osteopenia	HP:0000938
791114	PWRN1	Osteoporosis	HP:0000939
791114	PWRN1	Hypogonadotrophic hypogonadism	HP:0000044
791114	PWRN1	Scrotal hypoplasia	HP:0000046
791114	PWRN1	Specific learning disability	HP:0001328
791114	PWRN1	Iris hypopigmentation	HP:0007730
791114	PWRN1	Esotropia	HP:0000565
791114	PWRN1	Micropenis	HP:0000054
791114	PWRN1	Delayed puberty	HP:0000823
791114	PWRN1	Short palm	HP:0004279
791114	PWRN1	Growth hormone deficiency	HP:0000824
791114	PWRN1	Precocious puberty	HP:0000826
791114	PWRN1	Narrow palm	HP:0004283
791114	PWRN1	Frontal upsweep of hair	HP:0002236
791114	PWRN1	Clitoral hypoplasia	HP:0000060
791114	PWRN1	Narrow nasal bridge	HP:0000446
791114	PWRN1	Hypoplastic labia minora	HP:0000064
791114	PWRN1	Almond-shaped palpebral fissure	HP:0007874
791114	PWRN1	Psychosis	HP:0000709
791114	PWRN1	Upslanted palpebral fissure	HP:0000582
791114	PWRN1	Ventriculomegaly	HP:0002119
791114	PWRN1	Abdominal obesity	HP:0012743
791114	PWRN1	Hyperinsulinemia	HP:0000842
791114	PWRN1	Nasal speech	HP:0001611
791114	PWRN1	Autism	HP:0000717
791114	PWRN1	Adrenal insufficiency	HP:0000846
791114	PWRN1	Temperature instability	HP:0005968
791114	PWRN1	Narrow forehead	HP:0000341
791114	PWRN1	Generalized hypopigmentation	HP:0007513
791114	PWRN1	Type II diabetes mellitus	HP:0005978
791114	PWRN1	Scoliosis	HP:0002650
791114	PWRN1	Thin upper lip vermilion	HP:0000219
791114	PWRN1	Hypopigmentation of hair	HP:0005599
791114	PWRN1	Cutaneous photosensitivity	HP:0000992
791114	PWRN1	Seizures	HP:0001250
791114	PWRN1	Short stature	HP:0004322
791114	PWRN1	Poor fine motor coordination	HP:0007010
791114	PWRN1	Poor gross motor coordination	HP:0007015
791114	PWRN1	Hypoventilation	HP:0002791
791114	PWRN1	Hip dysplasia	HP:0001385
791114	PWRN1	Attention deficit hyperactivity disorder	HP:0007018
791114	PWRN1	Oligomenorrhea	HP:0000876
791114	PWRN1	Short foot	HP:0001773
791114	PWRN1	Delayed speech and language development	HP:0000750
791114	PWRN1	Global developmental delay	HP:0001263
791114	PWRN1	Poor suck	HP:0002033
791114	PWRN1	Small hand	HP:0200055
791114	PWRN1	Motor delay	HP:0001270
791114	PWRN1	Kyphosis	HP:0002808
791114	PWRN1	Radial deviation of finger	HP:0009466
791114	PWRN1	Failure to thrive in infancy	HP:0001531
791114	PWRN1	Decreased muscle mass	HP:0003199
53834	FGFRL1	Preauricular skin tag	HP:0000384
53834	FGFRL1	Craniofacial asymmetry	HP:0004484
53834	FGFRL1	Hemangioma	HP:0001028
53834	FGFRL1	Vertebral fusion	HP:0002948
53834	FGFRL1	Autosomal dominant inheritance	HP:0000006
53834	FGFRL1	Rib fusion	HP:0000902
53834	FGFRL1	Proptosis	HP:0000520
53834	FGFRL1	Prominent glabella	HP:0002057
53834	FGFRL1	Generalized hypotonia	HP:0001290
53834	FGFRL1	Hip dislocation	HP:0002827
53834	FGFRL1	Severe postnatal growth retardation	HP:0008850
53834	FGFRL1	Stenosis of the external auditory canal	HP:0000402
53834	FGFRL1	Split hand	HP:0001171
53834	FGFRL1	Hyperconvex fingernails	HP:0001812
53834	FGFRL1	Conductive hearing impairment	HP:0000405
53834	FGFRL1	Decreased fetal movement	HP:0001558
53834	FGFRL1	Aplasia of the uterus	HP:0000151
53834	FGFRL1	Sensorineural hearing impairment	HP:0000407
53834	FGFRL1	Preaxial hand polydactyly	HP:0001177
53834	FGFRL1	Downturned corners of mouth	HP:0002714
53834	FGFRL1	Cryptorchidism	HP:0000028
53834	FGFRL1	Hypodontia	HP:0000668
53834	FGFRL1	Epicanthus	HP:0000286
53834	FGFRL1	Radioulnar synostosis	HP:0002974
53834	FGFRL1	Sporadic	HP:0003745
53834	FGFRL1	Immunodeficiency	HP:0002721
53834	FGFRL1	Rieger anomaly	HP:0000558
53834	FGFRL1	Wide nasal bridge	HP:0000431
53834	FGFRL1	Cleft palate	HP:0000175
53834	FGFRL1	Hypospadias	HP:0000047
53834	FGFRL1	Metatarsus adductus	HP:0001840
53834	FGFRL1	EEG abnormality	HP:0002353
53834	FGFRL1	Preaxial foot polydactyly	HP:0001841
53834	FGFRL1	Short thumb	HP:0009778
53834	FGFRL1	Absent septum pellucidum	HP:0001331
53834	FGFRL1	Biliary tract abnormality	HP:0001080
53834	FGFRL1	Single transverse palmar crease	HP:0000954
53834	FGFRL1	Malrotation of small bowel	HP:0004794
53834	FGFRL1	Precocious puberty	HP:0000826
53834	FGFRL1	Short upper lip	HP:0000188
53834	FGFRL1	Hypertelorism	HP:0000316
53834	FGFRL1	Convex nasal ridge	HP:0000444
53834	FGFRL1	Ectopia pupillae	HP:0009918
53834	FGFRL1	Delayed skeletal maturation	HP:0002750
53834	FGFRL1	Sacral dimple	HP:0000960
53834	FGFRL1	Short philtrum	HP:0000322
53834	FGFRL1	Periventricular cysts	HP:0007109
53834	FGFRL1	Ventriculomegaly	HP:0002119
53834	FGFRL1	Cleft upper lip	HP:0000204
53834	FGFRL1	Webbed neck	HP:0000465
53834	FGFRL1	Accessory spleen	HP:0001747
53834	FGFRL1	Cavum septum pellucidum	HP:0002389
53834	FGFRL1	Abnormal sternal ossification	HP:0011863
53834	FGFRL1	Aplasia cutis congenita of scalp	HP:0007385
53834	FGFRL1	Scoliosis	HP:0002650
53834	FGFRL1	Micrognathia	HP:0000347
53834	FGFRL1	High forehead	HP:0000348
53834	FGFRL1	Stereotypy	HP:0000733
53834	FGFRL1	Ventricular septal defect	HP:0001629
53834	FGFRL1	Atrial septal defect	HP:0001631
53834	FGFRL1	Tethered cord	HP:0002144
53834	FGFRL1	Seizures	HP:0001250
53834	FGFRL1	Talipes equinovarus	HP:0001762
53834	FGFRL1	Short stature	HP:0004322
53834	FGFRL1	Iris coloboma	HP:0000612
53834	FGFRL1	Failure to thrive	HP:0001508
53834	FGFRL1	Gastroesophageal reflux	HP:0002020
53834	FGFRL1	Strabismus	HP:0000486
53834	FGFRL1	Intrauterine growth retardation	HP:0001511
53834	FGFRL1	Hip dysplasia	HP:0001385
53834	FGFRL1	Pseudoepiphyses of the metacarpals	HP:0009193
53834	FGFRL1	Hydrocephalus	HP:0000238
53834	FGFRL1	Small for gestational age	HP:0001518
53834	FGFRL1	Global developmental delay	HP:0001263
53834	FGFRL1	Intellectual disability, severe	HP:0010864
53834	FGFRL1	Abnormal form of the vertebral bodies	HP:0003312
53834	FGFRL1	Low posterior hairline	HP:0002162
53834	FGFRL1	Preauricular pit	HP:0004467
53834	FGFRL1	Kyphosis	HP:0002808
53834	FGFRL1	Highly arched eyebrow	HP:0002553
53834	FGFRL1	Abnormality of the pinna	HP:0000377
53834	FGFRL1	Agenesis of corpus callosum	HP:0001274
53834	FGFRL1	Ptosis	HP:0000508
53834	FGFRL1	Microcephaly	HP:0000252
53834	FGFRL1	Short hallux	HP:0010109
53834	FGFRL1	Nystagmus	HP:0000639
53834	FGFRL1	Rib segmentation abnormalities	HP:0006655
53834	FGFRL1	Decreased muscle mass	HP:0003199
4683	NBN	Skeletal muscle atrophy	HP:0003202
4683	NBN	Recurrent pneumonia	HP:0006532
4683	NBN	Neurodegeneration	HP:0002180
4683	NBN	Otitis media	HP:0000388
4683	NBN	Glioma	HP:0009733
4683	NBN	Ovarian neoplasm	HP:0100615
4683	NBN	Autosomal recessive inheritance	HP:0000007
4683	NBN	Mastoiditis	HP:0000265
4683	NBN	Recurrent urinary tract infections	HP:0000010
4683	NBN	Macrotia	HP:0000400
4683	NBN	Premature ovarian insufficiency	HP:0008209
4683	NBN	Dysgammaglobulinemia	HP:0002961
4683	NBN	Abnormality of the fallopian tube	HP:0011027
4683	NBN	Abnormality of chromosome stability	HP:0003220
4683	NBN	Recurrent bronchitis	HP:0002837
4683	NBN	Retrognathia	HP:0000278
4683	NBN	Bone marrow hypocellularity	HP:0005528
4683	NBN	Decrease in T cell count	HP:0005403
4683	NBN	T-cell lymphoma	HP:0012190
4683	NBN	B-cell lymphoma	HP:0012191
4683	NBN	Depressed nasal bridge	HP:0005280
4683	NBN	Pollakisuria	HP:0100515
4683	NBN	Low anterior hairline	HP:0000294
4683	NBN	Prominent nasal bridge	HP:0000426
4683	NBN	Rhabdomyosarcoma	HP:0002859
4683	NBN	Muscle weakness	HP:0001324
4683	NBN	Melanoma	HP:0002861
4683	NBN	Cleft palate	HP:0000175
4683	NBN	Recurrent sinopulmonary infections	HP:0005425
4683	NBN	Acute leukemia	HP:0002488
4683	NBN	Breast carcinoma	HP:0003002
4683	NBN	Convex nasal ridge	HP:0000444
4683	NBN	Cafe-au-lait spot	HP:0000957
4683	NBN	Respiratory failure	HP:0002878
4683	NBN	Recurrent infection of the gastrointestinal tract	HP:0004798
4683	NBN	Bronchiectasis	HP:0002110
4683	NBN	Prominent nose	HP:0000448
4683	NBN	Acute lymphoblastic leukemia	HP:0006721
4683	NBN	Medulloblastoma	HP:0002885
4683	NBN	Choanal atresia	HP:0000453
4683	NBN	Upslanted palpebral fissure	HP:0000582
4683	NBN	Primary peritoneal carcinoma	HP:0030406
4683	NBN	Freckling	HP:0001480
4683	NBN	Cleft upper lip	HP:0000204
4683	NBN	Neoplasm of the pancreas	HP:0002894
4683	NBN	Thrombocytopenia	HP:0001873
4683	NBN	Deep philtrum	HP:0002002
4683	NBN	Sloping forehead	HP:0000340
4683	NBN	Short neck	HP:0000470
4683	NBN	Micrognathia	HP:0000347
4683	NBN	Abnormality of neuronal migration	HP:0002269
4683	NBN	Prostate cancer	HP:0012125
4683	NBN	Diarrhea	HP:0002014
4683	NBN	Cutaneous photosensitivity	HP:0000992
4683	NBN	B lymphocytopenia	HP:0010976
4683	NBN	Intellectual disability	HP:0001249
4683	NBN	Autoimmune hemolytic anemia	HP:0001890
4683	NBN	Short stature	HP:0004322
4683	NBN	Abnormal hair quantity	HP:0011362
4683	NBN	Progressive vitiligo	HP:0005602
4683	NBN	Cachexia	HP:0004326
4683	NBN	Polygenic inheritance	HP:0010982
4683	NBN	Anal atresia	HP:0002023
4683	NBN	Intrauterine growth retardation	HP:0001511
4683	NBN	Anal stenosis	HP:0002025
4683	NBN	Lymphoma	HP:0002665
4683	NBN	Attention deficit hyperactivity disorder	HP:0007018
4683	NBN	Chronic diarrhea	HP:0002028
4683	NBN	Hearing abnormality	HP:0000364
4683	NBN	Non-midline cleft lip	HP:0100335
4683	NBN	Hyperactivity	HP:0000752
4683	NBN	Mental deterioration	HP:0001268
4683	NBN	Long nose	HP:0003189
4683	NBN	Sinusitis	HP:0000246
4683	NBN	Aplastic anemia	HP:0001915
4683	NBN	Microcephaly	HP:0000252
4683	NBN	Malar prominence	HP:0010620
4683	NBN	Hydronephrosis	HP:0000126
152137	CCDC50	Autosomal dominant inheritance	HP:0000006
152137	CCDC50	Sensorineural hearing impairment	HP:0000407
201294	UNC13D	Reduced natural killer cell activity	HP:0012178
201294	UNC13D	Autosomal recessive inheritance	HP:0000007
201294	UNC13D	Fever	HP:0001945
201294	UNC13D	Hepatosplenomegaly	HP:0001433
201294	UNC13D	Granulocytopenia	HP:0001913
201294	UNC13D	Hypertriglyceridemia	HP:0002155
201294	UNC13D	Hemophagocytosis	HP:0012156
201294	UNC13D	Hypofibrinogenemia	HP:0011900
201294	UNC13D	Anemia	HP:0001903
4688	NCF2	Hepatomegaly	HP:0002240
4688	NCF2	Osteomyelitis	HP:0002754
4688	NCF2	Impaired oxidative burst	HP:0003203
4688	NCF2	Recurrent pneumonia	HP:0006532
4688	NCF2	Eczema	HP:0000964
4688	NCF2	Otitis media	HP:0000388
4688	NCF2	Decreased activity of NADPH oxidase	HP:0003206
4688	NCF2	Autosomal recessive inheritance	HP:0000007
4688	NCF2	Sepsis	HP:0100806
4688	NCF2	Meningitis	HP:0001287
4688	NCF2	Hypermelanotic macule	HP:0001034
4688	NCF2	Granulomatosis	HP:0002955
4688	NCF2	Tracheoesophageal fistula	HP:0002575
4688	NCF2	Splenomegaly	HP:0001744
4688	NCF2	Eczematoid dermatitis	HP:0000976
4688	NCF2	Abnormality of neutrophils	HP:0001874
4688	NCF2	Lymphadenitis	HP:0002840
4688	NCF2	Fever	HP:0001945
4688	NCF2	Recurrent Burkholderia cepacia infections	HP:0002842
4688	NCF2	Lymphadenopathy	HP:0002716
4688	NCF2	Recurrent respiratory infections	HP:0002205
4688	NCF2	Recurrent bacterial skin infections	HP:0005406
4688	NCF2	Cutaneous photosensitivity	HP:0000992
4688	NCF2	Immunodeficiency	HP:0002721
4688	NCF2	Absence of bactericidal oxidative respiratory burst in phagocytes	HP:0002723
4688	NCF2	Recurrent Aspergillus infections	HP:0002724
4688	NCF2	Juvenile onset	HP:0003621
4688	NCF2	Pyloric stenosis	HP:0002021
4688	NCF2	Recurrent Staphylococcus aureus infections	HP:0002726
4688	NCF2	Gingivitis	HP:0000230
4688	NCF2	Rectal abscess	HP:0005224
4688	NCF2	Malabsorption	HP:0002024
4688	NCF2	Skin ulcer	HP:0200042
4688	NCF2	Liver abscess	HP:0100523
4688	NCF2	Chronic obstructive pulmonary disease	HP:0006510
4688	NCF2	Mediastinal lymphadenopathy	HP:0100721
4688	NCF2	Cellulitis	HP:0100658
4688	NCF2	Recurrent E. coli infections	HP:0002740
4688	NCF2	Inflammatory abnormality of the eye	HP:0100533
4688	NCF2	Recurrent Serratia marcescens infections	HP:0002741
4688	NCF2	Recurrent Klebsiella infections	HP:0002742
4688	NCF2	Sinusitis	HP:0000246
4688	NCF2	Discoid lupus rash	HP:0007417
4689	NCF4	Hepatomegaly	HP:0002240
4689	NCF4	Eczema	HP:0000964
4689	NCF4	Otitis media	HP:0000388
4689	NCF4	Autosomal recessive inheritance	HP:0000007
4689	NCF4	Sepsis	HP:0100806
4689	NCF4	Meningitis	HP:0001287
4689	NCF4	Hypermelanotic macule	HP:0001034
4689	NCF4	Tracheoesophageal fistula	HP:0002575
4689	NCF4	Splenomegaly	HP:0001744
4689	NCF4	Abnormality of neutrophils	HP:0001874
4689	NCF4	Colitis	HP:0002583
4689	NCF4	Fever	HP:0001945
4689	NCF4	Recurrent respiratory infections	HP:0002205
4689	NCF4	Diarrhea	HP:0002014
4689	NCF4	Cutaneous photosensitivity	HP:0000992
4689	NCF4	Recurrent aphthous stomatitis	HP:0011107
4689	NCF4	Recurrent sinusitis	HP:0011108
4689	NCF4	Pyloric stenosis	HP:0002021
4689	NCF4	Gingivitis	HP:0000230
4689	NCF4	Malabsorption	HP:0002024
4689	NCF4	Skin ulcer	HP:0200042
4689	NCF4	Liver abscess	HP:0100523
4689	NCF4	Chronic obstructive pulmonary disease	HP:0006510
4689	NCF4	Mediastinal lymphadenopathy	HP:0100721
4689	NCF4	Inflammatory abnormality of the eye	HP:0100533
4689	NCF4	Sinusitis	HP:0000246
4689	NCF4	Perioral eczema	HP:0011127
4692	NDN	Clinodactyly	HP:0030084
4692	NDN	Acromicria	HP:0031878
4692	NDN	Syndactyly	HP:0001159
4692	NDN	Generalized hypotonia	HP:0001290
4692	NDN	Dolichocephaly	HP:0000268
4692	NDN	Primary amenorrhea	HP:0000786
4692	NDN	Infertility	HP:0000789
4692	NDN	Decreased fetal movement	HP:0001558
4692	NDN	Downturned corners of mouth	HP:0002714
4692	NDN	Cryptorchidism	HP:0000028
4692	NDN	Hypermetropia	HP:0000540
4692	NDN	Recurrent respiratory infections	HP:0002205
4692	NDN	Carious teeth	HP:0000670
4692	NDN	Polyphagia	HP:0002591
4692	NDN	Impaired pain sensation	HP:0007328
4692	NDN	Sporadic	HP:0003745
4692	NDN	Myopia	HP:0000545
4692	NDN	Sleep apnea	HP:0010535
4692	NDN	Neonatal hypotonia	HP:0001319
4692	NDN	Genu valgum	HP:0002857
4692	NDN	Osteopenia	HP:0000938
4692	NDN	Osteoporosis	HP:0000939
4692	NDN	Hypogonadotrophic hypogonadism	HP:0000044
4692	NDN	Scrotal hypoplasia	HP:0000046
4692	NDN	Specific learning disability	HP:0001328
4692	NDN	Iris hypopigmentation	HP:0007730
4692	NDN	Esotropia	HP:0000565
4692	NDN	Micropenis	HP:0000054
4692	NDN	Delayed puberty	HP:0000823
4692	NDN	Short palm	HP:0004279
4692	NDN	Growth hormone deficiency	HP:0000824
4692	NDN	Precocious puberty	HP:0000826
4692	NDN	Narrow palm	HP:0004283
4692	NDN	Frontal upsweep of hair	HP:0002236
4692	NDN	Clitoral hypoplasia	HP:0000060
4692	NDN	Narrow nasal bridge	HP:0000446
4692	NDN	Hypoplastic labia minora	HP:0000064
4692	NDN	Almond-shaped palpebral fissure	HP:0007874
4692	NDN	Psychosis	HP:0000709
4692	NDN	Upslanted palpebral fissure	HP:0000582
4692	NDN	Ventriculomegaly	HP:0002119
4692	NDN	Abdominal obesity	HP:0012743
4692	NDN	Hyperinsulinemia	HP:0000842
4692	NDN	Nasal speech	HP:0001611
4692	NDN	Autism	HP:0000717
4692	NDN	Adrenal insufficiency	HP:0000846
4692	NDN	Temperature instability	HP:0005968
4692	NDN	Narrow forehead	HP:0000341
4692	NDN	Generalized hypopigmentation	HP:0007513
4692	NDN	Type II diabetes mellitus	HP:0005978
4692	NDN	Scoliosis	HP:0002650
4692	NDN	Thin upper lip vermilion	HP:0000219
4692	NDN	Hypopigmentation of hair	HP:0005599
4692	NDN	Cutaneous photosensitivity	HP:0000992
4692	NDN	Seizures	HP:0001250
4692	NDN	Short stature	HP:0004322
4692	NDN	Poor fine motor coordination	HP:0007010
4692	NDN	Poor gross motor coordination	HP:0007015
4692	NDN	Hypoventilation	HP:0002791
4692	NDN	Hip dysplasia	HP:0001385
4692	NDN	Attention deficit hyperactivity disorder	HP:0007018
4692	NDN	Oligomenorrhea	HP:0000876
4692	NDN	Short foot	HP:0001773
4692	NDN	Delayed speech and language development	HP:0000750
4692	NDN	Global developmental delay	HP:0001263
4692	NDN	Poor suck	HP:0002033
4692	NDN	Small hand	HP:0200055
4692	NDN	Motor delay	HP:0001270
4692	NDN	Kyphosis	HP:0002808
4692	NDN	Radial deviation of finger	HP:0009466
4692	NDN	Failure to thrive in infancy	HP:0001531
4692	NDN	Decreased muscle mass	HP:0003199
4693	NDP	Cataract	HP:0000518
4693	NDP	Sclerocornea	HP:0000647
4693	NDP	Vascular neoplasm	HP:0100742
4693	NDP	Optic atrophy	HP:0000648
4693	NDP	Retinal hole	HP:0011530
4693	NDP	X-linked recessive inheritance	HP:0001419
4693	NDP	Subretinal exudate	HP:0011532
4693	NDP	Malar flattening	HP:0000272
4693	NDP	Macrotia	HP:0000400
4693	NDP	Abnormal chorioretinal morphology	HP:0000532
4693	NDP	Sensorineural hearing impairment	HP:0000407
4693	NDP	Anterior chamber synechiae	HP:0007833
4693	NDP	Exudative vitreoretinopathy	HP:0030490
4693	NDP	Protruding ear	HP:0000411
4693	NDP	Cryptorchidism	HP:0000028
4693	NDP	Migraine	HP:0002076
4693	NDP	Retinal detachment	HP:0000541
4693	NDP	Erectile abnormalities	HP:0100639
4693	NDP	Peripheral vitreous opacities	HP:0007710
4693	NDP	Abnormality of the helix	HP:0011039
4693	NDP	Remnants of the hyaloid vascular system	HP:0007968
4693	NDP	Retinal dysplasia	HP:0007973
4693	NDP	Abnormality of the diencephalon	HP:0010662
4693	NDP	Retinal vascular tortuosity	HP:0012841
4693	NDP	Muscle weakness	HP:0001324
4693	NDP	Venous insufficiency	HP:0005293
4693	NDP	Neoplasm of the eye	HP:0100012
4693	NDP	EEG abnormality	HP:0002353
4693	NDP	Diabetes mellitus	HP:0000819
4693	NDP	Intraretinal exudate	HP:0007989
4693	NDP	Delayed puberty	HP:0000823
4693	NDP	Sleep disturbance	HP:0002360
4693	NDP	Microphthalmia	HP:0000568
4693	NDP	Ectopia lentis	HP:0001083
4693	NDP	Narrow nasal bridge	HP:0000446
4693	NDP	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4693	NDP	Psychosis	HP:0000709
4693	NDP	Cerebral cortical atrophy	HP:0002120
4693	NDP	Developmental regression	HP:0002376
4693	NDP	Retinal neovascularization	HP:0030666
4693	NDP	Autism	HP:0000717
4693	NDP	Aggressive behavior	HP:0000718
4693	NDP	Abnormal macular morphology	HP:0001103
4693	NDP	Opacification of the corneal stroma	HP:0007759
4693	NDP	Abnormal anterior chamber morphology	HP:0000593
4693	NDP	Shallow anterior chamber	HP:0000594
4693	NDP	Falciform retinal fold	HP:0001493
4693	NDP	Dementia	HP:0000726
4693	NDP	Premature birth	HP:0001622
4693	NDP	Hypotelorism	HP:0000601
4693	NDP	Scoliosis	HP:0002650
4693	NDP	Stereotypy	HP:0000733
4693	NDP	Vitreous hemorrhage	HP:0007902
4693	NDP	Irritability	HP:0000737
4693	NDP	Hallucinations	HP:0000738
4693	NDP	Seizures	HP:0001250
4693	NDP	Abnormality of immune system physiology	HP:0010978
4693	NDP	Anxiety	HP:0000739
4693	NDP	Failure to thrive	HP:0001508
4693	NDP	Muscular hypotonia	HP:0001252
4693	NDP	Cachexia	HP:0004326
4693	NDP	Strabismus	HP:0000486
4693	NDP	Intellectual disability, progressive	HP:0006887
4693	NDP	Abnormal pupil morphology	HP:0000615
4693	NDP	Thin vermilion border	HP:0000233
4693	NDP	Deeply set eye	HP:0000490
4693	NDP	Blindness	HP:0000618
4693	NDP	Attention deficit hyperactivity disorder	HP:0007018
4693	NDP	Self-injurious behavior	HP:0100716
4693	NDP	Tractional retinal detachment	HP:0007917
4693	NDP	Abnormal retinal vascular morphology	HP:0008046
4693	NDP	Small for gestational age	HP:0001518
4693	NDP	Uterine rupture	HP:0100718
4693	NDP	Reduced visual acuity	HP:0007663
4693	NDP	Retinal arteriolar tortuosity	HP:0001136
4693	NDP	Retinal fold	HP:0008052
4693	NDP	Glaucoma	HP:0000501
4693	NDP	Aplasia/Hypoplasia of the iris	HP:0008053
4693	NDP	Abnormal cochlea morphology	HP:0000375
4693	NDP	Clonus	HP:0002169
4693	NDP	Hypoplasia of the iris	HP:0007676
4693	NDP	Microcephaly	HP:0000252
4693	NDP	Hypertonia	HP:0001276
4693	NDP	Nystagmus	HP:0000639
4693	NDP	Aplasia/Hypoplasia of the lens	HP:0008063
4694	NDUFA1	Delayed ability to walk	HP:0031936
4694	NDUFA1	Choreoathetosis	HP:0001266
4694	NDUFA1	Variable expressivity	HP:0003828
4694	NDUFA1	Abnormality of extrapyramidal motor function	HP:0002071
4694	NDUFA1	Increased serum lactate	HP:0002151
4694	NDUFA1	Cerebellar atrophy	HP:0001272
4694	NDUFA1	Generalized myoclonic seizures	HP:0002123
4694	NDUFA1	Abnormal mitochondria in muscle tissue	HP:0008316
4694	NDUFA1	Global developmental delay	HP:0001263
4695	NDUFA2	Hyperreflexia	HP:0001347
4695	NDUFA2	Pigmentary retinopathy	HP:0000580
4695	NDUFA2	Optic atrophy	HP:0000648
4695	NDUFA2	Emotional lability	HP:0000712
4695	NDUFA2	Decreased activity of mitochondrial respiratory chain	HP:0008972
4695	NDUFA2	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4695	NDUFA2	Progressive cerebellar ataxia	HP:0002073
4695	NDUFA2	Ophthalmoplegia	HP:0000602
4695	NDUFA2	Ventricular septal defect	HP:0001629
4695	NDUFA2	Hypoplasia of the corpus callosum	HP:0002079
4695	NDUFA2	Seizures	HP:0001250
4695	NDUFA2	Failure to thrive	HP:0001508
4695	NDUFA2	Muscular hypotonia	HP:0001252
4695	NDUFA2	Strabismus	HP:0000486
4695	NDUFA2	Hypertrichosis	HP:0000998
4695	NDUFA2	Peripheral neuropathy	HP:0009830
4695	NDUFA2	Increased serum lactate	HP:0002151
4695	NDUFA2	Hypertrophic cardiomyopathy	HP:0001639
4695	NDUFA2	Progressive spastic paraplegia	HP:0007020
4695	NDUFA2	Dysarthria	HP:0001260
4695	NDUFA2	Hearing impairment	HP:0000365
4695	NDUFA2	Global developmental delay	HP:0001263
4695	NDUFA2	Anemia	HP:0001903
4695	NDUFA2	Leukodystrophy	HP:0002415
4695	NDUFA2	Intellectual disability, severe	HP:0010864
4695	NDUFA2	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4695	NDUFA2	Death in infancy	HP:0001522
4695	NDUFA2	Dystonia	HP:0001332
4695	NDUFA2	Apnea	HP:0002104
4695	NDUFA2	Congenital onset	HP:0003577
4695	NDUFA2	Increased CSF lactate	HP:0002490
4695	NDUFA2	Ptosis	HP:0000508
4695	NDUFA2	Nystagmus	HP:0000639
86614	HSFY1	Y-linked inheritance	HP:0001450
86614	HSFY1	Azoospermia	HP:0000027
4697	NDUFA4	Hyperreflexia	HP:0001347
4697	NDUFA4	Pigmentary retinopathy	HP:0000580
4697	NDUFA4	Optic atrophy	HP:0000648
4697	NDUFA4	Emotional lability	HP:0000712
4697	NDUFA4	Decreased activity of mitochondrial respiratory chain	HP:0008972
4697	NDUFA4	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4697	NDUFA4	Progressive cerebellar ataxia	HP:0002073
4697	NDUFA4	Ophthalmoplegia	HP:0000602
4697	NDUFA4	Ventricular septal defect	HP:0001629
4697	NDUFA4	Seizures	HP:0001250
4697	NDUFA4	Failure to thrive	HP:0001508
4697	NDUFA4	Muscular hypotonia	HP:0001252
4697	NDUFA4	Strabismus	HP:0000486
4697	NDUFA4	Hypertrichosis	HP:0000998
4697	NDUFA4	Peripheral neuropathy	HP:0009830
4697	NDUFA4	Increased serum lactate	HP:0002151
4697	NDUFA4	Hypertrophic cardiomyopathy	HP:0001639
4697	NDUFA4	Progressive spastic paraplegia	HP:0007020
4697	NDUFA4	Dysarthria	HP:0001260
4697	NDUFA4	Hearing impairment	HP:0000365
4697	NDUFA4	Anemia	HP:0001903
4697	NDUFA4	Global developmental delay	HP:0001263
4697	NDUFA4	Leukodystrophy	HP:0002415
4697	NDUFA4	Intellectual disability, severe	HP:0010864
4697	NDUFA4	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4697	NDUFA4	Dystonia	HP:0001332
4697	NDUFA4	Apnea	HP:0002104
4697	NDUFA4	Increased CSF lactate	HP:0002490
4697	NDUFA4	Ptosis	HP:0000508
4697	NDUFA4	Nystagmus	HP:0000639
4700	NDUFA6	Poor speech	HP:0002465
4700	NDUFA6	Hyperammonemia	HP:0001987
4700	NDUFA6	Abnormality of the cerebral white matter	HP:0002500
4700	NDUFA6	Ventriculomegaly	HP:0002119
4700	NDUFA6	Progressive neurologic deterioration	HP:0002344
4700	NDUFA6	Spasticity	HP:0001257
4700	NDUFA6	Cerebellar hypoplasia	HP:0001321
4700	NDUFA6	Global developmental delay	HP:0001263
4700	NDUFA6	Encephalopathy	HP:0001298
4700	NDUFA6	Metabolic acidosis	HP:0001942
4700	NDUFA6	Hypoglycemia	HP:0001943
4700	NDUFA6	Abnormal mitochondria in muscle tissue	HP:0008316
4700	NDUFA6	Mutism	HP:0002300
4700	NDUFA6	Dysphagia	HP:0002015
4703	NEB	Bulbar palsy	HP:0001283
4703	NEB	Fatty replacement of skeletal muscle	HP:0012548
4703	NEB	Sternocleidomastoid amyotrophy	HP:0012036
4703	NEB	Areflexia	HP:0001284
4703	NEB	Narrow chest	HP:0000774
4703	NEB	Abnormality of the diaphragm	HP:0000775
4703	NEB	Autosomal recessive inheritance	HP:0000007
4703	NEB	Clumsiness	HP:0002312
4703	NEB	Infantile onset	HP:0003593
4703	NEB	Myopathic facies	HP:0002058
4703	NEB	Generalized hypotonia	HP:0001290
4703	NEB	Abnormality of the rib cage	HP:0001547
4703	NEB	Hip dislocation	HP:0002827
4703	NEB	Bradykinesia	HP:0002067
4703	NEB	Narrow face	HP:0000275
4703	NEB	Neuromuscular dysphagia	HP:0002068
4703	NEB	Long face	HP:0000276
4703	NEB	Decreased fetal movement	HP:0001558
4703	NEB	Polyhydramnios	HP:0001561
4703	NEB	Neonatal hypotonia	HP:0001319
4703	NEB	Pulmonary hypoplasia	HP:0002089
4703	NEB	Genu valgum	HP:0002857
4703	NEB	Weakness of the intrinsic hand muscles	HP:0009005
4703	NEB	Respiratory insufficiency	HP:0002093
4703	NEB	Hypospadias	HP:0000047
4703	NEB	Difficulty walking	HP:0002355
4703	NEB	Micropenis	HP:0000054
4703	NEB	Frequent falls	HP:0002359
4703	NEB	Apnea	HP:0002104
4703	NEB	Exertional dyspnea	HP:0002875
4703	NEB	Hypertelorism	HP:0000316
4703	NEB	Nocturnal hypoventilation	HP:0002877
4703	NEB	Respiratory failure	HP:0002878
4703	NEB	Increased connective tissue	HP:0009025
4703	NEB	Ankle contracture	HP:0006466
4703	NEB	Foot dorsiflexor weakness	HP:0009027
4703	NEB	Facial diplegia	HP:0001349
4703	NEB	Hypokinesia	HP:0002375
4703	NEB	Premature birth	HP:0001622
4703	NEB	Breech presentation	HP:0001623
4703	NEB	Long philtrum	HP:0000343
4703	NEB	Edema of the dorsum of hands	HP:0007514
4703	NEB	Ophthalmoplegia	HP:0000602
4703	NEB	Scoliosis	HP:0002650
4703	NEB	Flexion contracture	HP:0001371
4703	NEB	Micrognathia	HP:0000347
4703	NEB	Generalized limb muscle atrophy	HP:0009055
4703	NEB	Increased muscle lipid content	HP:0009058
4703	NEB	Cardiomyopathy	HP:0001638
4703	NEB	Progressive distal muscle weakness	HP:0009063
4703	NEB	Limb muscle weakness	HP:0003690
4703	NEB	Mitochondrial depletion	HP:0030059
4703	NEB	Scapular winging	HP:0003691
4703	NEB	Weakness of facial musculature	HP:0030319
4703	NEB	Progressive proximal muscle weakness	HP:0009073
4703	NEB	Low-set ears	HP:0000369
4703	NEB	Thin ribs	HP:0000883
4703	NEB	Weakness of long finger extensor muscles	HP:0009077
4703	NEB	Proximal muscle weakness	HP:0003701
4703	NEB	EMG: neuropathic changes	HP:0003445
4703	NEB	Myopathy	HP:0003198
4703	NEB	EMG: myopathic abnormalities	HP:0003458
4703	NEB	Skeletal muscle atrophy	HP:0003202
4703	NEB	Facial palsy	HP:0010628
4703	NEB	Neck flexor weakness	HP:0003722
4703	NEB	Heterogeneous	HP:0001425
4703	NEB	High, narrow palate	HP:0002705
4703	NEB	Genu varum	HP:0002970
4703	NEB	Adducted thumb	HP:0001181
4703	NEB	Elevated serum creatine kinase	HP:0003236
4703	NEB	Severe muscular hypotonia	HP:0006829
4703	NEB	Cleft palate	HP:0000175
4703	NEB	Bulbar signs	HP:0002483
4703	NEB	Respiratory insufficiency due to muscle weakness	HP:0002747
4703	NEB	Feeding difficulties	HP:0011968
4703	NEB	Fetal akinesia sequence	HP:0001989
4703	NEB	Waddling gait	HP:0002515
4703	NEB	Neck muscle weakness	HP:0000467
4703	NEB	Nemaline bodies	HP:0003798
4703	NEB	Short neck	HP:0000470
4703	NEB	High palate	HP:0000218
4703	NEB	Exercise intolerance	HP:0003546
4703	NEB	Type 1 muscle fiber predominance	HP:0003803
4703	NEB	Abnormality of the eye	HP:0000478
4703	NEB	Multiple prenatal fractures	HP:0005855
4703	NEB	Dysphagia	HP:0002015
4703	NEB	Muscle stiffness	HP:0003552
4703	NEB	Pes cavus	HP:0001761
4703	NEB	Late-onset distal muscle weakness	HP:0003810
4703	NEB	Increased variability in muscle fiber diameter	HP:0003557
4703	NEB	Reduced vital capacity	HP:0002792
4703	NEB	Spinal rigidity	HP:0003306
4703	NEB	Hyperlordosis	HP:0003307
4703	NEB	Inability to walk	HP:0002540
4703	NEB	Large fontanelles	HP:0000239
4703	NEB	Fatigable weakness of bulbar muscles	HP:0030192
4703	NEB	Hyporeflexia	HP:0001265
4703	NEB	Arthrogryposis multiplex congenita	HP:0002804
4703	NEB	Mildly elevated creatine kinase	HP:0008180
4703	NEB	Fatigable weakness of respiratory muscles	HP:0030196
4703	NEB	Motor delay	HP:0001270
4703	NEB	Fatigable weakness of distal limb muscles	HP:0030198
4703	NEB	Kyphosis	HP:0002808
4703	NEB	Fatiguable weakness of proximal limb muscles	HP:0030200
4703	NEB	Generalized muscle weakness	HP:0003324
4703	NEB	Ptosis	HP:0000508
4703	NEB	Slender build	HP:0001533
4703	NEB	Limb-girdle muscle weakness	HP:0003325
4703	NEB	Abnormality of the thorax	HP:0000765
4703	NEB	Axial muscle weakness	HP:0003327
4703	NEB	Pectus excavatum	HP:0000767
4704	NDUFA9	Hyperreflexia	HP:0001347
4704	NDUFA9	Pigmentary retinopathy	HP:0000580
4704	NDUFA9	Optic atrophy	HP:0000648
4704	NDUFA9	Emotional lability	HP:0000712
4704	NDUFA9	Cerebral atrophy	HP:0002059
4704	NDUFA9	Decreased activity of mitochondrial respiratory chain	HP:0008972
4704	NDUFA9	Limb hypertonia	HP:0002509
4704	NDUFA9	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4704	NDUFA9	Progressive cerebellar ataxia	HP:0002073
4704	NDUFA9	Ophthalmoplegia	HP:0000602
4704	NDUFA9	Ventricular septal defect	HP:0001629
4704	NDUFA9	Seizures	HP:0001250
4704	NDUFA9	Failure to thrive	HP:0001508
4704	NDUFA9	Muscular hypotonia	HP:0001252
4704	NDUFA9	Strabismus	HP:0000486
4704	NDUFA9	Hypertrichosis	HP:0000998
4704	NDUFA9	Peripheral neuropathy	HP:0009830
4704	NDUFA9	Increased serum lactate	HP:0002151
4704	NDUFA9	Hypertrophic cardiomyopathy	HP:0001639
4704	NDUFA9	Progressive spastic paraplegia	HP:0007020
4704	NDUFA9	Dysarthria	HP:0001260
4704	NDUFA9	Hearing impairment	HP:0000365
4704	NDUFA9	Distal amyotrophy	HP:0003693
4704	NDUFA9	Anemia	HP:0001903
4704	NDUFA9	Global developmental delay	HP:0001263
4704	NDUFA9	Leukodystrophy	HP:0002415
4704	NDUFA9	Intellectual disability, severe	HP:0010864
4704	NDUFA9	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4704	NDUFA9	Hyporeflexia	HP:0001265
4704	NDUFA9	EEG abnormality	HP:0002353
4704	NDUFA9	Choreoathetosis	HP:0001266
4704	NDUFA9	Dystonia	HP:0001332
4704	NDUFA9	Apnea	HP:0002104
4704	NDUFA9	Cerebellar atrophy	HP:0001272
4704	NDUFA9	Increased CSF lactate	HP:0002490
4704	NDUFA9	Ptosis	HP:0000508
4704	NDUFA9	Nystagmus	HP:0000639
4705	NDUFA10	Hyperreflexia	HP:0001347
4705	NDUFA10	Pigmentary retinopathy	HP:0000580
4705	NDUFA10	Optic atrophy	HP:0000648
4705	NDUFA10	Emotional lability	HP:0000712
4705	NDUFA10	Infantile onset	HP:0003593
4705	NDUFA10	Decreased activity of mitochondrial respiratory chain	HP:0008972
4705	NDUFA10	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4705	NDUFA10	Progressive cerebellar ataxia	HP:0002073
4705	NDUFA10	Ophthalmoplegia	HP:0000602
4705	NDUFA10	Ventricular septal defect	HP:0001629
4705	NDUFA10	Seizures	HP:0001250
4705	NDUFA10	Failure to thrive	HP:0001508
4705	NDUFA10	Muscular hypotonia	HP:0001252
4705	NDUFA10	Strabismus	HP:0000486
4705	NDUFA10	Hypertrichosis	HP:0000998
4705	NDUFA10	Peripheral neuropathy	HP:0009830
4705	NDUFA10	Increased serum lactate	HP:0002151
4705	NDUFA10	Hypertrophic cardiomyopathy	HP:0001639
4705	NDUFA10	Progressive spastic paraplegia	HP:0007020
4705	NDUFA10	Dysarthria	HP:0001260
4705	NDUFA10	Hearing impairment	HP:0000365
4705	NDUFA10	Global developmental delay	HP:0001263
4705	NDUFA10	Anemia	HP:0001903
4705	NDUFA10	Leukodystrophy	HP:0002415
4705	NDUFA10	Intellectual disability, severe	HP:0010864
4705	NDUFA10	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4705	NDUFA10	Dystonia	HP:0001332
4705	NDUFA10	Poor head control	HP:0002421
4705	NDUFA10	Apnea	HP:0002104
4705	NDUFA10	Increased CSF lactate	HP:0002490
4705	NDUFA10	Ptosis	HP:0000508
4705	NDUFA10	Nystagmus	HP:0000639
4709	NDUFB3	Encephalopathy	HP:0001298
4709	NDUFB3	Failure to thrive	HP:0001508
4709	NDUFB3	Nemaline bodies	HP:0003798
4709	NDUFB3	Intrauterine growth retardation	HP:0001511
4709	NDUFB3	Generalized hypotonia	HP:0001290
4709	NDUFB3	Abnormal mitochondria in muscle tissue	HP:0008316
4709	NDUFB3	Myopathy	HP:0003198
4709	NDUFB3	Global developmental delay	HP:0001263
4714	NDUFB8	Seizures	HP:0001250
4714	NDUFB8	Increased serum lactate	HP:0002151
4714	NDUFB8	Infantile onset	HP:0003593
4714	NDUFB8	Increased CSF lactate	HP:0002490
4715	NDUFB9	Increased serum lactate	HP:0002151
4715	NDUFB9	Infantile onset	HP:0003593
4715	NDUFB9	Abnormal mitochondria in muscle tissue	HP:0008316
4715	NDUFB9	Progressive	HP:0003676
4716	NDUFB10	Abnormal mitochondria in muscle tissue	HP:0008316
4719	NDUFS1	Hyperreflexia	HP:0001347
4719	NDUFS1	Pigmentary retinopathy	HP:0000580
4719	NDUFS1	Optic atrophy	HP:0000648
4719	NDUFS1	Emotional lability	HP:0000712
4719	NDUFS1	Developmental regression	HP:0002376
4719	NDUFS1	Infantile onset	HP:0003593
4719	NDUFS1	Decreased activity of mitochondrial respiratory chain	HP:0008972
4719	NDUFS1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4719	NDUFS1	Progressive cerebellar ataxia	HP:0002073
4719	NDUFS1	Ophthalmoplegia	HP:0000602
4719	NDUFS1	Brain atrophy	HP:0012444
4719	NDUFS1	Progressive	HP:0003676
4719	NDUFS1	Ventricular septal defect	HP:0001629
4719	NDUFS1	Vomiting	HP:0002013
4719	NDUFS1	Dysphagia	HP:0002015
4719	NDUFS1	Babinski sign	HP:0003487
4719	NDUFS1	Poor speech	HP:0002465
4719	NDUFS1	Irritability	HP:0000737
4719	NDUFS1	Seizures	HP:0001250
4719	NDUFS1	Ataxia	HP:0001251
4719	NDUFS1	Failure to thrive	HP:0001508
4719	NDUFS1	Muscular hypotonia	HP:0001252
4719	NDUFS1	Strabismus	HP:0000486
4719	NDUFS1	Hypertrichosis	HP:0000998
4719	NDUFS1	Peripheral neuropathy	HP:0009830
4719	NDUFS1	Lethargy	HP:0001254
4719	NDUFS1	Increased serum lactate	HP:0002151
4719	NDUFS1	Hypertrophic cardiomyopathy	HP:0001639
4719	NDUFS1	Progressive spastic paraplegia	HP:0007020
4719	NDUFS1	Dysarthria	HP:0001260
4719	NDUFS1	Hearing impairment	HP:0000365
4719	NDUFS1	Respiratory insufficiency	HP:0002093
4719	NDUFS1	Anemia	HP:0001903
4719	NDUFS1	Global developmental delay	HP:0001263
4719	NDUFS1	Leukodystrophy	HP:0002415
4719	NDUFS1	Intellectual disability, severe	HP:0010864
4719	NDUFS1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4719	NDUFS1	Leukoencephalopathy	HP:0002352
4719	NDUFS1	Dystonia	HP:0001332
4719	NDUFS1	Apnea	HP:0002104
4719	NDUFS1	Cerebellar atrophy	HP:0001272
4719	NDUFS1	Increased CSF lactate	HP:0002490
4719	NDUFS1	Abnormal mitochondria in muscle tissue	HP:0008316
4719	NDUFS1	Ptosis	HP:0000508
4719	NDUFS1	Nystagmus	HP:0000639
4720	NDUFS2	Optic atrophy	HP:0000648
4720	NDUFS2	Infantile onset	HP:0003593
4720	NDUFS2	Decreased activity of mitochondrial respiratory chain	HP:0008972
4720	NDUFS2	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4720	NDUFS2	Progressive cerebellar ataxia	HP:0002073
4720	NDUFS2	Brain atrophy	HP:0012444
4720	NDUFS2	Retinal vascular tortuosity	HP:0012841
4720	NDUFS2	Dystonia	HP:0001332
4720	NDUFS2	Apnea	HP:0002104
4720	NDUFS2	Increased CSF lactate	HP:0002490
4720	NDUFS2	Mitochondrial respiratory chain defects	HP:0200125
4720	NDUFS2	Centrocecal scotoma	HP:0000576
4720	NDUFS2	Hyperreflexia	HP:0001347
4720	NDUFS2	Pigmentary retinopathy	HP:0000580
4720	NDUFS2	Ventriculomegaly	HP:0002119
4720	NDUFS2	Developmental regression	HP:0002376
4720	NDUFS2	Emotional lability	HP:0000712
4720	NDUFS2	Retinal telangiectasia	HP:0007763
4720	NDUFS2	Ventricular preexcitation	HP:0004309
4720	NDUFS2	Abnormal pyramidal sign	HP:0007256
4720	NDUFS2	Ophthalmoplegia	HP:0000602
4720	NDUFS2	Central scotoma	HP:0000603
4720	NDUFS2	Ventricular septal defect	HP:0001629
4720	NDUFS2	Seizures	HP:0001250
4720	NDUFS2	Ataxia	HP:0001251
4720	NDUFS2	Failure to thrive	HP:0001508
4720	NDUFS2	Muscular hypotonia	HP:0001252
4720	NDUFS2	Lethargy	HP:0001254
4720	NDUFS2	Peripheral neuropathy	HP:0009830
4720	NDUFS2	Strabismus	HP:0000486
4720	NDUFS2	Hypertrichosis	HP:0000998
4720	NDUFS2	Increased serum lactate	HP:0002151
4720	NDUFS2	Hypertrophic cardiomyopathy	HP:0001639
4720	NDUFS2	Muscular hypotonia of the trunk	HP:0008936
4720	NDUFS2	Progressive spastic paraplegia	HP:0007020
4720	NDUFS2	Dysarthria	HP:0001260
4720	NDUFS2	Hearing impairment	HP:0000365
4720	NDUFS2	Blurred vision	HP:0000622
4720	NDUFS2	Anemia	HP:0001903
4720	NDUFS2	Global developmental delay	HP:0001263
4720	NDUFS2	Leukodystrophy	HP:0002415
4720	NDUFS2	Intellectual disability, severe	HP:0010864
4720	NDUFS2	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4720	NDUFS2	Slow decrease in visual acuity	HP:0007924
4720	NDUFS2	Abnormal mitochondria in muscle tissue	HP:0008316
4720	NDUFS2	Ptosis	HP:0000508
4720	NDUFS2	Postural tremor	HP:0002174
4720	NDUFS2	Myopathy	HP:0003198
4720	NDUFS2	Nystagmus	HP:0000639
4722	NDUFS3	Hyperreflexia	HP:0001347
4722	NDUFS3	Pigmentary retinopathy	HP:0000580
4722	NDUFS3	Optic atrophy	HP:0000648
4722	NDUFS3	Emotional lability	HP:0000712
4722	NDUFS3	Decreased activity of mitochondrial respiratory chain	HP:0008972
4722	NDUFS3	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4722	NDUFS3	Encephalopathy	HP:0001298
4722	NDUFS3	Progressive cerebellar ataxia	HP:0002073
4722	NDUFS3	Ophthalmoplegia	HP:0000602
4722	NDUFS3	Ventricular septal defect	HP:0001629
4722	NDUFS3	Tetraparesis	HP:0002273
4722	NDUFS3	Seizures	HP:0001250
4722	NDUFS3	Failure to thrive	HP:0001508
4722	NDUFS3	Muscular hypotonia	HP:0001252
4722	NDUFS3	Strabismus	HP:0000486
4722	NDUFS3	Hypertrichosis	HP:0000998
4722	NDUFS3	Peripheral neuropathy	HP:0009830
4722	NDUFS3	Increased serum lactate	HP:0002151
4722	NDUFS3	Hypertrophic cardiomyopathy	HP:0001639
4722	NDUFS3	Progressive spastic paraplegia	HP:0007020
4722	NDUFS3	Dysarthria	HP:0001260
4722	NDUFS3	Hearing impairment	HP:0000365
4722	NDUFS3	Anemia	HP:0001903
4722	NDUFS3	Global developmental delay	HP:0001263
4722	NDUFS3	Leukodystrophy	HP:0002415
4722	NDUFS3	Intellectual disability, severe	HP:0010864
4722	NDUFS3	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4722	NDUFS3	Dystonia	HP:0001332
4722	NDUFS3	Apnea	HP:0002104
4722	NDUFS3	Increased CSF lactate	HP:0002490
4722	NDUFS3	Abnormal mitochondria in muscle tissue	HP:0008316
4722	NDUFS3	Ptosis	HP:0000508
4722	NDUFS3	Nystagmus	HP:0000639
4723	NDUFV1	Hyperreflexia	HP:0001347
4723	NDUFV1	Pigmentary retinopathy	HP:0000580
4723	NDUFV1	Developmental regression	HP:0002376
4723	NDUFV1	Optic atrophy	HP:0000648
4723	NDUFV1	Emotional lability	HP:0000712
4723	NDUFV1	Infantile onset	HP:0003593
4723	NDUFV1	Decreased activity of mitochondrial respiratory chain	HP:0008972
4723	NDUFV1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4723	NDUFV1	Progressive cerebellar ataxia	HP:0002073
4723	NDUFV1	Ophthalmoplegia	HP:0000602
4723	NDUFV1	Brain atrophy	HP:0012444
4723	NDUFV1	Ventricular septal defect	HP:0001629
4723	NDUFV1	Seizures	HP:0001250
4723	NDUFV1	Ataxia	HP:0001251
4723	NDUFV1	Failure to thrive	HP:0001508
4723	NDUFV1	Muscular hypotonia	HP:0001252
4723	NDUFV1	Strabismus	HP:0000486
4723	NDUFV1	Lethargy	HP:0001254
4723	NDUFV1	Hypertrichosis	HP:0000998
4723	NDUFV1	Peripheral neuropathy	HP:0009830
4723	NDUFV1	Increased serum lactate	HP:0002151
4723	NDUFV1	Hypertrophic cardiomyopathy	HP:0001639
4723	NDUFV1	Progressive spastic paraplegia	HP:0007020
4723	NDUFV1	Dysarthria	HP:0001260
4723	NDUFV1	Hearing impairment	HP:0000365
4723	NDUFV1	Global developmental delay	HP:0001263
4723	NDUFV1	Anemia	HP:0001903
4723	NDUFV1	Leukodystrophy	HP:0002415
4723	NDUFV1	Intellectual disability, severe	HP:0010864
4723	NDUFV1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4723	NDUFV1	Dystonia	HP:0001332
4723	NDUFV1	Myoclonus	HP:0001336
4723	NDUFV1	Apnea	HP:0002104
4723	NDUFV1	Increased CSF lactate	HP:0002490
4723	NDUFV1	Abnormal mitochondria in muscle tissue	HP:0008316
4723	NDUFV1	Ptosis	HP:0000508
4723	NDUFV1	Nystagmus	HP:0000639
4724	NDUFS4	Progressive macrocephaly	HP:0004481
4724	NDUFS4	Skeletal muscle atrophy	HP:0003202
4724	NDUFS4	Cerebral edema	HP:0002181
4724	NDUFS4	Autosomal recessive inheritance	HP:0000007
4724	NDUFS4	Optic atrophy	HP:0000648
4724	NDUFS4	Infantile onset	HP:0003593
4724	NDUFS4	Generalized hypotonia	HP:0001290
4724	NDUFS4	Decreased activity of mitochondrial respiratory chain	HP:0008972
4724	NDUFS4	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4724	NDUFS4	X-linked dominant inheritance	HP:0001423
4724	NDUFS4	Mitochondrial inheritance	HP:0001427
4724	NDUFS4	Sensorineural hearing impairment	HP:0000407
4724	NDUFS4	Hypoglycemia	HP:0001943
4724	NDUFS4	Progressive cerebellar ataxia	HP:0002073
4724	NDUFS4	Optic disc pallor	HP:0000543
4724	NDUFS4	Babinski sign	HP:0003487
4724	NDUFS4	Feeding difficulties in infancy	HP:0008872
4724	NDUFS4	Respiratory insufficiency	HP:0002093
4724	NDUFS4	Leukoencephalopathy	HP:0002352
4724	NDUFS4	Poor eye contact	HP:0000817
4724	NDUFS4	Dystonia	HP:0001332
4724	NDUFS4	Dyskinesia	HP:0100660
4724	NDUFS4	Acute necrotizing encephalopathy	HP:0006965
4724	NDUFS4	Apnea	HP:0002104
4724	NDUFS4	Lactic acidosis	HP:0003128
4724	NDUFS4	Increased CSF lactate	HP:0002490
4724	NDUFS4	Respiratory failure	HP:0002878
4724	NDUFS4	Hyperreflexia	HP:0001347
4724	NDUFS4	Pigmentary retinopathy	HP:0000580
4724	NDUFS4	Emotional lability	HP:0000712
4724	NDUFS4	Developmental regression	HP:0002376
4724	NDUFS4	Ophthalmoplegia	HP:0000602
4724	NDUFS4	Exercise intolerance	HP:0003546
4724	NDUFS4	Ventricular septal defect	HP:0001629
4724	NDUFS4	Vomiting	HP:0002013
4724	NDUFS4	Seizures	HP:0001250
4724	NDUFS4	Ataxia	HP:0001251
4724	NDUFS4	Failure to thrive	HP:0001508
4724	NDUFS4	Muscular hypotonia	HP:0001252
4724	NDUFS4	Strabismus	HP:0000486
4724	NDUFS4	Hypertrichosis	HP:0000998
4724	NDUFS4	Peripheral neuropathy	HP:0009830
4724	NDUFS4	Growth delay	HP:0001510
4724	NDUFS4	Lethargy	HP:0001254
4724	NDUFS4	Increased serum lactate	HP:0002151
4724	NDUFS4	Hypertrophic cardiomyopathy	HP:0001639
4724	NDUFS4	Spasticity	HP:0001257
4724	NDUFS4	Blindness	HP:0000618
4724	NDUFS4	Coma	HP:0001259
4724	NDUFS4	Progressive spastic paraplegia	HP:0007020
4724	NDUFS4	Dysarthria	HP:0001260
4724	NDUFS4	Hearing impairment	HP:0000365
4724	NDUFS4	Anemia	HP:0001903
4724	NDUFS4	Global developmental delay	HP:0001263
4724	NDUFS4	Leukodystrophy	HP:0002415
4724	NDUFS4	Intellectual disability, severe	HP:0010864
4724	NDUFS4	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4724	NDUFS4	Hyporeflexia	HP:0001265
4724	NDUFS4	Optic neuropathy	HP:0001138
4724	NDUFS4	Poor head control	HP:0002421
4724	NDUFS4	Hepatic failure	HP:0001399
4724	NDUFS4	Cerebellar atrophy	HP:0001272
4724	NDUFS4	Abnormal mitochondria in muscle tissue	HP:0008316
4724	NDUFS4	Ptosis	HP:0000508
4724	NDUFS4	Nystagmus	HP:0000639
4726	NDUFS6	Seizures	HP:0001250
4726	NDUFS6	Encephalopathy	HP:0001298
4726	NDUFS6	Breathing dysregulation	HP:0005957
4726	NDUFS6	Lethargy	HP:0001254
4726	NDUFS6	Hypoventilation	HP:0002791
4726	NDUFS6	Abnormal mitochondria in muscle tissue	HP:0008316
4726	NDUFS6	Nystagmus	HP:0000639
4728	NDUFS8	Hyperreflexia	HP:0001347
4728	NDUFS8	Pigmentary retinopathy	HP:0000580
4728	NDUFS8	Optic atrophy	HP:0000648
4728	NDUFS8	Emotional lability	HP:0000712
4728	NDUFS8	Decreased activity of mitochondrial respiratory chain	HP:0008972
4728	NDUFS8	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4728	NDUFS8	Progressive cerebellar ataxia	HP:0002073
4728	NDUFS8	Ophthalmoplegia	HP:0000602
4728	NDUFS8	Ventricular septal defect	HP:0001629
4728	NDUFS8	Seizures	HP:0001250
4728	NDUFS8	Failure to thrive	HP:0001508
4728	NDUFS8	Muscular hypotonia	HP:0001252
4728	NDUFS8	Strabismus	HP:0000486
4728	NDUFS8	Hypertrichosis	HP:0000998
4728	NDUFS8	Peripheral neuropathy	HP:0009830
4728	NDUFS8	Increased serum lactate	HP:0002151
4728	NDUFS8	Hypertrophic cardiomyopathy	HP:0001639
4728	NDUFS8	Dysarthria	HP:0001260
4728	NDUFS8	Progressive spastic paraplegia	HP:0007020
4728	NDUFS8	Respiratory insufficiency	HP:0002093
4728	NDUFS8	Hearing impairment	HP:0000365
4728	NDUFS8	Global developmental delay	HP:0001263
4728	NDUFS8	Anemia	HP:0001903
4728	NDUFS8	Leukodystrophy	HP:0002415
4728	NDUFS8	Intellectual disability, severe	HP:0010864
4728	NDUFS8	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4728	NDUFS8	Difficulty walking	HP:0002355
4728	NDUFS8	Dystonia	HP:0001332
4728	NDUFS8	Variable expressivity	HP:0003828
4728	NDUFS8	Dyskinesia	HP:0100660
4728	NDUFS8	Apnea	HP:0002104
4728	NDUFS8	Increased CSF lactate	HP:0002490
4728	NDUFS8	Abnormal mitochondria in muscle tissue	HP:0008316
4728	NDUFS8	Ptosis	HP:0000508
4728	NDUFS8	Nystagmus	HP:0000639
4729	NDUFV2	Hyperreflexia	HP:0001347
4729	NDUFV2	Pigmentary retinopathy	HP:0000580
4729	NDUFV2	Developmental regression	HP:0002376
4729	NDUFV2	Optic atrophy	HP:0000648
4729	NDUFV2	Emotional lability	HP:0000712
4729	NDUFV2	Infantile onset	HP:0003593
4729	NDUFV2	Generalized hypotonia	HP:0001290
4729	NDUFV2	Decreased activity of mitochondrial respiratory chain	HP:0008972
4729	NDUFV2	Focal T2 hyperintense basal ganglia lesion	HP:0007183
4729	NDUFV2	Encephalopathy	HP:0001298
4729	NDUFV2	Progressive cerebellar ataxia	HP:0002073
4729	NDUFV2	Ophthalmoplegia	HP:0000602
4729	NDUFV2	Brain atrophy	HP:0012444
4729	NDUFV2	Ventricular septal defect	HP:0001629
4729	NDUFV2	Seizures	HP:0001250
4729	NDUFV2	Failure to thrive	HP:0001508
4729	NDUFV2	Muscular hypotonia	HP:0001252
4729	NDUFV2	Strabismus	HP:0000486
4729	NDUFV2	Hypertrichosis	HP:0000998
4729	NDUFV2	Peripheral neuropathy	HP:0009830
4729	NDUFV2	Increased serum lactate	HP:0002151
4729	NDUFV2	Hypertrophic cardiomyopathy	HP:0001639
4729	NDUFV2	Spasticity	HP:0001257
4729	NDUFV2	Progressive spastic paraplegia	HP:0007020
4729	NDUFV2	Dysarthria	HP:0001260
4729	NDUFV2	Hearing impairment	HP:0000365
4729	NDUFV2	Anemia	HP:0001903
4729	NDUFV2	Global developmental delay	HP:0001263
4729	NDUFV2	Leukodystrophy	HP:0002415
4729	NDUFV2	Intellectual disability, severe	HP:0010864
4729	NDUFV2	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
4729	NDUFV2	Dystonia	HP:0001332
4729	NDUFV2	Apnea	HP:0002104
4729	NDUFV2	Increased CSF lactate	HP:0002490
4729	NDUFV2	Abnormal mitochondria in muscle tissue	HP:0008316
4729	NDUFV2	Ptosis	HP:0000508
4729	NDUFV2	Nystagmus	HP:0000639
4744	NEFH	Ragged-red muscle fibers	HP:0003200
4744	NEFH	Skeletal muscle atrophy	HP:0003202
4744	NEFH	Muscle spasm	HP:0003394
4744	NEFH	Neurodegeneration	HP:0002180
4744	NEFH	Autosomal dominant inheritance	HP:0000006
4744	NEFH	Emotional lability	HP:0000712
4744	NEFH	Agitation	HP:0000713
4744	NEFH	Depressivity	HP:0000716
4744	NEFH	Paralysis	HP:0003470
4744	NEFH	Laryngospasm	HP:0025425
4744	NEFH	Waddling gait	HP:0002515
4744	NEFH	Xerostomia	HP:0000217
4744	NEFH	Fatigue	HP:0012378
4744	NEFH	Progressive	HP:0003676
4744	NEFH	Upper limb muscle weakness	HP:0003484
4744	NEFH	Rimmed vacuoles	HP:0003805
4744	NEFH	Babinski sign	HP:0003487
4744	NEFH	Nausea and vomiting	HP:0002017
4744	NEFH	Pes cavus	HP:0001761
4744	NEFH	Anxiety	HP:0000739
4744	NEFH	Muscle fiber splitting	HP:0003555
4744	NEFH	Elevated serum creatine kinase	HP:0003236
4744	NEFH	Pyloric stenosis	HP:0002021
4744	NEFH	Sensorimotor neuropathy	HP:0007141
4744	NEFH	Increased variability in muscle fiber diameter	HP:0003557
4744	NEFH	Spasticity	HP:0001257
4744	NEFH	Upper limb amyotrophy	HP:0009129
4744	NEFH	Lower limb amyotrophy	HP:0007210
4744	NEFH	Lower limb muscle weakness	HP:0007340
4744	NEFH	Dyspnea	HP:0002094
4744	NEFH	Hyporeflexia	HP:0001265
4744	NEFH	Fatigable weakness of swallowing muscles	HP:0030195
4744	NEFH	Pain	HP:0012531
4744	NEFH	Fatigable weakness of respiratory muscles	HP:0030196
4744	NEFH	Variable expressivity	HP:0003828
4744	NEFH	Proximal muscle weakness	HP:0003701
4744	NEFH	EMG: neuropathic changes	HP:0003445
4744	NEFH	Frequent falls	HP:0002359
4744	NEFH	Distal sensory impairment	HP:0002936
4744	NEFH	Amyotrophic lateral sclerosis	HP:0007354
4744	NEFH	Generalized muscle weakness	HP:0003324
4744	NEFH	Respiratory failure	HP:0002878
4744	NEFH	Myopathy	HP:0003198
4744	NEFH	Sensory axonal neuropathy	HP:0003390
4744	NEFH	Impaired vibratory sensation	HP:0002495
4747	NEFL	Increased connective tissue	HP:0009025
4747	NEFL	Clusters of axonal regeneration	HP:0007233
4747	NEFL	Foot dorsiflexor weakness	HP:0009027
4747	NEFL	Facial palsy	HP:0010628
4747	NEFL	Areflexia	HP:0001284
4747	NEFL	Autosomal dominant inheritance	HP:0000006
4747	NEFL	Autosomal recessive inheritance	HP:0000007
4747	NEFL	Heterogeneous	HP:0001425
4747	NEFL	Split hand	HP:0001171
4747	NEFL	Waddling gait	HP:0002515
4747	NEFL	Nemaline bodies	HP:0003798
4747	NEFL	Segmental peripheral demyelination/remyelination	HP:0003481
4747	NEFL	High palate	HP:0000218
4747	NEFL	Ulnar claw	HP:0001178
4747	NEFL	Scoliosis	HP:0002650
4747	NEFL	Flexion contracture	HP:0001371
4747	NEFL	Distal muscle weakness	HP:0002460
4747	NEFL	Slow progression	HP:0003677
4747	NEFL	Babinski sign	HP:0003487
4747	NEFL	Pes cavus	HP:0001761
4747	NEFL	Ataxia	HP:0001251
4747	NEFL	Hammertoe	HP:0001765
4747	NEFL	Juvenile onset	HP:0003621
4747	NEFL	Sensorimotor neuropathy	HP:0007141
4747	NEFL	Decreased motor nerve conduction velocity	HP:0003431
4747	NEFL	Spasticity	HP:0001257
4747	NEFL	Distal amyotrophy	HP:0003693
4747	NEFL	Steppage gait	HP:0003376
4747	NEFL	Myelin outfoldings	HP:0004336
4747	NEFL	Hyporeflexia	HP:0001265
4747	NEFL	Variable expressivity	HP:0003828
4747	NEFL	Decreased number of peripheral myelinated nerve fibers	HP:0003380
4747	NEFL	Hypotrophy of the small hand muscles	HP:0006006
4747	NEFL	Motor delay	HP:0001270
4747	NEFL	Onion bulb formation	HP:0003383
4747	NEFL	Distal sensory impairment	HP:0002936
4747	NEFL	Ptosis	HP:0000508
4747	NEFL	Gowers sign	HP:0003391
4747	NEFL	Nystagmus	HP:0000639
4750	NEK1	Pectus carinatum	HP:0000768
4750	NEK1	Short ribs	HP:0000773
4750	NEK1	Narrow chest	HP:0000774
4750	NEK1	Intestinal malrotation	HP:0002566
4750	NEK1	Autosomal recessive inheritance	HP:0000007
4750	NEK1	Thick hair	HP:0100874
4750	NEK1	Generalized tonic-clonic seizures	HP:0002069
4750	NEK1	Pachygyria	HP:0001302
4750	NEK1	Hamartoma of tongue	HP:0011802
4750	NEK1	Hypermetropia	HP:0000540
4750	NEK1	Shortening of the tibia	HP:0006436
4750	NEK1	Atrioventricular canal defect	HP:0006695
4750	NEK1	Cerebellar vermis hypoplasia	HP:0001320
4750	NEK1	Pulmonary hypoplasia	HP:0002089
4750	NEK1	Submucous cleft soft palate	HP:0011819
4750	NEK1	Retinal dystrophy	HP:0000556
4750	NEK1	Dilation of lateral ventricles	HP:0006956
4750	NEK1	Dyspnea	HP:0002094
4750	NEK1	Adactyly	HP:0009776
4750	NEK1	Hypoplastic male external genitalia	HP:0000050
4750	NEK1	Micropenis	HP:0000054
4750	NEK1	Apnea	HP:0002104
4750	NEK1	Bifid tongue	HP:0010297
4750	NEK1	Tricuspid regurgitation	HP:0005180
4750	NEK1	Ambiguous genitalia	HP:0000062
4750	NEK1	Respiratory failure	HP:0002878
4750	NEK1	Muscle spasm	HP:0003394
4750	NEK1	Broad hallux	HP:0010055
4750	NEK1	Talon cusp	HP:0011087
4750	NEK1	Laryngospasm	HP:0025425
4750	NEK1	Finger clinodactyly	HP:0040019
4750	NEK1	Broad first metatarsal	HP:0010068
4750	NEK1	Central retinal vessel vascular tortuosity	HP:0007768
4750	NEK1	Fatigue	HP:0012378
4750	NEK1	Micrognathia	HP:0000347
4750	NEK1	Ventricular septal defect	HP:0001629
4750	NEK1	Atrial septal defect	HP:0001631
4750	NEK1	Arachnoid cyst	HP:0100702
4750	NEK1	Polycystic kidney dysplasia	HP:0000113
4750	NEK1	Hepatic fibrosis	HP:0001395
4750	NEK1	Complete duplication of hallux phalanx	HP:0010100
4750	NEK1	Horizontal ribs	HP:0000888
4750	NEK1	Mesomelic leg shortening	HP:0004987
4750	NEK1	Pancreatic fibrosis	HP:0100732
4750	NEK1	Lateral clavicle hook	HP:0000895
4750	NEK1	Skeletal muscle atrophy	HP:0003202
4750	NEK1	Brachydactyly	HP:0001156
4750	NEK1	Neurodegeneration	HP:0002180
4750	NEK1	Disproportionate shortening of the tibia	HP:0005766
4750	NEK1	Postaxial hand polydactyly	HP:0001162
4750	NEK1	Paralysis	HP:0003470
4750	NEK1	Agenesis of central incisor	HP:0006289
4750	NEK1	Conductive hearing impairment	HP:0000405
4750	NEK1	Preaxial hand polydactyly	HP:0001177
4750	NEK1	Y-shaped metacarpals	HP:0006042
4750	NEK1	Protruding ear	HP:0000411
4750	NEK1	Median cleft lip	HP:0000161
4750	NEK1	Taurodontia	HP:0000679
4750	NEK1	Microglossia	HP:0000171
4750	NEK1	Hypoplasia of teeth	HP:0000685
4750	NEK1	Cleft palate	HP:0000175
4750	NEK1	Wide nasal bridge	HP:0000431
4750	NEK1	Unilateral alveolar cleft of maxilla	HP:0410033
4750	NEK1	Natal tooth	HP:0000695
4750	NEK1	Postaxial polysyndactyly of foot	HP:0005817
4750	NEK1	Amyotrophic lateral sclerosis	HP:0007354
4750	NEK1	Abnormal oral frenulum morphology	HP:0000190
4750	NEK1	Peg-shaped maxillary lateral incisors	HP:0006342
4750	NEK1	Tongue nodules	HP:0000199
4750	NEK1	Emotional lability	HP:0000712
4750	NEK1	Agitation	HP:0000713
4750	NEK1	Depressivity	HP:0000716
4750	NEK1	Mesomelia	HP:0003027
4750	NEK1	Finger syndactyly	HP:0006101
4750	NEK1	Xerostomia	HP:0000217
4750	NEK1	High palate	HP:0000218
4750	NEK1	Velopharyngeal insufficiency	HP:0000220
4750	NEK1	Nausea and vomiting	HP:0002017
4750	NEK1	Short stature	HP:0004322
4750	NEK1	Anxiety	HP:0000739
4750	NEK1	Hypoplasia of the epiglottis	HP:0005349
4750	NEK1	Tachypnea	HP:0002789
4750	NEK1	Digenic inheritance	HP:0010984
4750	NEK1	Spasticity	HP:0001257
4750	NEK1	Delayed speech and language development	HP:0000750
4750	NEK1	Global developmental delay	HP:0001263
4750	NEK1	Polysyndactyly of hallux	HP:0005873
4750	NEK1	Fatigable weakness of swallowing muscles	HP:0030195
4750	NEK1	Pain	HP:0012531
4750	NEK1	Infantile muscular hypotonia	HP:0008947
4750	NEK1	Thoracic dysplasia	HP:0006644
4750	NEK1	Fatigable weakness of respiratory muscles	HP:0030196
4750	NEK1	Motor delay	HP:0001270
4750	NEK1	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
4750	NEK1	Brachycephaly	HP:0000248
4750	NEK1	Telecanthus	HP:0000506
4750	NEK1	Generalized muscle weakness	HP:0003324
4750	NEK1	Hydrops fetalis	HP:0001789
4751	NEK2	Abnormal electroretinogram	HP:0000512
4751	NEK2	Hyperreflexia	HP:0001347
4751	NEK2	Cataract	HP:0000518
4751	NEK2	Autosomal recessive inheritance	HP:0000007
4751	NEK2	Hypogonadism	HP:0000135
4751	NEK2	Optic atrophy	HP:0000648
4751	NEK2	Hyperinsulinemia	HP:0000842
4751	NEK2	Anteverted nares	HP:0000463
4751	NEK2	Conductive hearing impairment	HP:0000405
4751	NEK2	Sensorineural hearing impairment	HP:0000407
4751	NEK2	Abnormality of retinal pigmentation	HP:0007703
4751	NEK2	Ophthalmoplegia	HP:0000602
4751	NEK2	Type II diabetes mellitus	HP:0005978
4751	NEK2	Atypical scarring of skin	HP:0000987
4751	NEK2	Hypoplasia of penis	HP:0008736
4751	NEK2	Intellectual disability	HP:0001249
4751	NEK2	Abnormal testis morphology	HP:0000035
4751	NEK2	Photophobia	HP:0000613
4751	NEK2	Obesity	HP:0001513
4751	NEK2	Blindness	HP:0000618
4751	NEK2	Abnormal retinal vascular morphology	HP:0008046
4751	NEK2	Wide nasal bridge	HP:0000431
4751	NEK2	Keratoconus	HP:0000563
4751	NEK2	Glaucoma	HP:0000501
4751	NEK2	Progressive night blindness	HP:0007675
4751	NEK2	Rod-cone dystrophy	HP:0000510
4751	NEK2	Nystagmus	HP:0000639
53904	MYO3A	Progressive hearing impairment	HP:0001730
53904	MYO3A	Autosomal recessive inheritance	HP:0000007
53904	MYO3A	Progressive sensorineural hearing impairment	HP:0000408
4758	NEU1	Pectus carinatum	HP:0000768
4758	NEU1	Skeletal muscle atrophy	HP:0003202
4758	NEU1	Vacuolated lymphocytes	HP:0001922
4758	NEU1	Increased urinary O-linked sialopeptides	HP:0003461
4758	NEU1	Ascites	HP:0001541
4758	NEU1	Cataract	HP:0000518
4758	NEU1	Autosomal recessive inheritance	HP:0000007
4758	NEU1	Gait disturbance	HP:0001288
4758	NEU1	Generalized hypotonia	HP:0001290
4758	NEU1	Vascular skin abnormality	HP:0011276
4758	NEU1	Progressive visual loss	HP:0000529
4758	NEU1	Corneal opacity	HP:0007957
4758	NEU1	Inguinal hernia	HP:0000023
4758	NEU1	Sensorineural hearing impairment	HP:0000407
4758	NEU1	Coarse facial features	HP:0000280
4758	NEU1	Facial edema	HP:0000282
4758	NEU1	Aminoaciduria	HP:0003355
4758	NEU1	Urinary excretion of sialylated oligosaccharides	HP:0012061
4758	NEU1	Dysmetria	HP:0001310
4758	NEU1	Epiphyseal stippling	HP:0010655
4758	NEU1	Muscle weakness	HP:0001324
4758	NEU1	Dysostosis multiplex	HP:0000943
4758	NEU1	Wide nasal bridge	HP:0000431
4758	NEU1	EEG abnormality	HP:0002353
4758	NEU1	Thick lower lip vermilion	HP:0000179
4758	NEU1	Hernia	HP:0100790
4758	NEU1	Myoclonus	HP:0001336
4758	NEU1	Tremor	HP:0001337
4758	NEU1	Delayed skeletal maturation	HP:0002750
4758	NEU1	Hepatomegaly	HP:0002240
4758	NEU1	Hyperkeratosis	HP:0000962
4758	NEU1	Short thorax	HP:0010306
4758	NEU1	Hyperreflexia	HP:0001347
4758	NEU1	Slurred speech	HP:0001350
4758	NEU1	Splenomegaly	HP:0001744
4758	NEU1	Frontal bossing	HP:0002007
4758	NEU1	Scoliosis	HP:0002650
4758	NEU1	Skeletal dysplasia	HP:0002652
4758	NEU1	Proteinuria	HP:0000093
4758	NEU1	Intellectual disability	HP:0001249
4758	NEU1	Short stature	HP:0004322
4758	NEU1	Seizures	HP:0001250
4758	NEU1	Ataxia	HP:0001251
4758	NEU1	Muscular hypotonia	HP:0001252
4758	NEU1	Cardiomyopathy	HP:0001638
4758	NEU1	Cardiomegaly	HP:0001640
4758	NEU1	Retinopathy	HP:0000488
4758	NEU1	Cherry red spot of the macula	HP:0010729
4758	NEU1	Bone-marrow foam cells	HP:0004333
4758	NEU1	Abnormal form of the vertebral bodies	HP:0003312
4758	NEU1	Neurological speech impairment	HP:0002167
4758	NEU1	Kyphosis	HP:0002808
4758	NEU1	Decreased nerve conduction velocity	HP:0000762
4758	NEU1	Hydrops fetalis	HP:0001789
4758	NEU1	Nystagmus	HP:0000639
4760	NEUROD1	Autosomal dominant inheritance	HP:0000006
4760	NEUROD1	Maturity-onset diabetes of the young	HP:0004904
4763	NF1	Macrocephaly	HP:0000256
4763	NF1	Renal artery stenosis	HP:0001920
4763	NF1	Relative macrocephaly	HP:0004482
4763	NF1	Plexiform neurofibroma	HP:0009732
4763	NF1	Optic nerve glioma	HP:0009734
4763	NF1	Autosomal dominant inheritance	HP:0000006
4763	NF1	Spinal neurofibromas	HP:0009735
4763	NF1	Tibial pseudoarthrosis	HP:0009736
4763	NF1	Lisch nodules	HP:0009737
4763	NF1	Overgrowth	HP:0001548
4763	NF1	Multiple cafe-au-lait spots	HP:0007565
4763	NF1	Sparse eyelashes	HP:0000653
4763	NF1	Malar flattening	HP:0000272
4763	NF1	Pectus excavatum of inferior sternum	HP:0000915
4763	NF1	Secundum atrial septal defect	HP:0001684
4763	NF1	Somatic mutation	HP:0001428
4763	NF1	Superior pectus carinatum	HP:0000917
4763	NF1	Cubitus valgus	HP:0002967
4763	NF1	Sparse and thin eyebrow	HP:0000535
4763	NF1	Prominent nasolabial fold	HP:0005272
4763	NF1	Midface retrusion	HP:0011800
4763	NF1	Hypoplasia of dental enamel	HP:0006297
4763	NF1	Abnormality of the lymphatic system	HP:0100763
4763	NF1	Bifid nose	HP:0011803
4763	NF1	Cryptorchidism	HP:0000028
4763	NF1	Epicanthus	HP:0000286
4763	NF1	Abnormality of the helix	HP:0011039
4763	NF1	Depressed nasal bridge	HP:0005280
4763	NF1	Genu valgum	HP:0002857
4763	NF1	Meningioma	HP:0002858
4763	NF1	Rhabdomyosarcoma	HP:0002859
4763	NF1	Neurofibromas	HP:0001067
4763	NF1	Muscle weakness	HP:0001324
4763	NF1	Lower limb muscle weakness	HP:0007340
4763	NF1	Specific learning disability	HP:0001328
4763	NF1	Juvenile myelomonocytic leukemia	HP:0012209
4763	NF1	Macroorchidism	HP:0000053
4763	NF1	Hypertension	HP:0000822
4763	NF1	Thick vermilion border	HP:0012471
4763	NF1	Deviated nasal septum	HP:0004411
4763	NF1	Hypertelorism	HP:0000316
4763	NF1	Cafe-au-lait spot	HP:0000957
4763	NF1	Neuroblastoma	HP:0003006
4763	NF1	Spinal cord tumor	HP:0010302
4763	NF1	Abdominal wall muscle weakness	HP:0009023
4763	NF1	Prolonged bleeding time	HP:0003010
4763	NF1	Symmetric spinal nerve root neurofibromas	HP:0006851
4763	NF1	Thick nasal alae	HP:0009928
4763	NF1	Freckling	HP:0001480
4763	NF1	Parathyroid adenoma	HP:0002897
4763	NF1	Webbed neck	HP:0000465
4763	NF1	Paraparesis	HP:0002385
4763	NF1	Short neck	HP:0000470
4763	NF1	Neurofibrosarcoma	HP:0100697
4763	NF1	Hypsarrhythmia	HP:0002521
4763	NF1	Scoliosis	HP:0002650
4763	NF1	Abnormality of the cardiovascular system	HP:0001626
4763	NF1	Dysphagia	HP:0002015
4763	NF1	Intellectual disability	HP:0001249
4763	NF1	Seizures	HP:0001250
4763	NF1	Short stature	HP:0004322
4763	NF1	Inguinal freckling	HP:0030052
4763	NF1	Axillary freckling	HP:0000997
4763	NF1	Posteriorly rotated ears	HP:0000358
4763	NF1	Hypertrophic cardiomyopathy	HP:0001639
4763	NF1	Intellectual disability, mild	HP:0001256
4763	NF1	Thin vermilion border	HP:0000233
4763	NF1	Aqueductal stenosis	HP:0002410
4763	NF1	Pheochromocytoma	HP:0002666
4763	NF1	Pulmonic stenosis	HP:0001642
4763	NF1	Hydrocephalus	HP:0000238
4763	NF1	Spina bifida	HP:0002414
4763	NF1	Delayed speech and language development	HP:0000750
4763	NF1	Downslanted palpebral fissures	HP:0000494
4763	NF1	Global developmental delay	HP:0001263
4763	NF1	Low-set, posteriorly rotated ears	HP:0000368
4763	NF1	Low-set ears	HP:0000369
4763	NF1	Low posterior hairline	HP:0002162
4763	NF1	Glaucoma	HP:0000501
4763	NF1	Astrocytoma	HP:0009592
4763	NF1	Ptosis	HP:0000508
4763	NF1	Microcephaly	HP:0000252
4763	NF1	Abnormality of the thorax	HP:0000765
4763	NF1	Pectus excavatum	HP:0000767
160418	TMTC3	Delayed ability to walk	HP:0031936
160418	TMTC3	Absent speech	HP:0001344
160418	TMTC3	Intellectual disability	HP:0001249
160418	TMTC3	Seizures	HP:0001250
160418	TMTC3	Talipes equinovarus	HP:0001762
160418	TMTC3	Elevated serum creatine kinase	HP:0003236
160418	TMTC3	Occipital encephalocele	HP:0002085
160418	TMTC3	Cataract	HP:0000518
160418	TMTC3	Ventriculomegaly	HP:0002119
160418	TMTC3	Autosomal recessive inheritance	HP:0000007
160418	TMTC3	Muscular hypotonia of the trunk	HP:0008936
160418	TMTC3	Optic atrophy	HP:0000648
160418	TMTC3	Infantile onset	HP:0003593
160418	TMTC3	Spasticity	HP:0001257
160418	TMTC3	Polymicrogyria	HP:0002126
160418	TMTC3	Global developmental delay	HP:0001263
160418	TMTC3	Lissencephaly	HP:0001339
160418	TMTC3	Microcephaly	HP:0000252
160418	TMTC3	Hypoplasia of the brainstem	HP:0002365
160418	TMTC3	Abnormal myelination	HP:0012447
160418	TMTC3	Hypoplasia of the corpus callosum	HP:0002079
4771	NF2	Facial palsy	HP:0010628
4771	NF2	Cataract	HP:0000518
4771	NF2	Autosomal dominant inheritance	HP:0000006
4771	NF2	Gait disturbance	HP:0001288
4771	NF2	Ependymoma	HP:0002888
4771	NF2	Subcutaneous nodule	HP:0001482
4771	NF2	Headache	HP:0002315
4771	NF2	Multiple cafe-au-lait spots	HP:0007565
4771	NF2	Vertigo	HP:0002321
4771	NF2	Increased intracranial pressure	HP:0002516
4771	NF2	Somatic mutation	HP:0001428
4771	NF2	Corneal opacity	HP:0007957
4771	NF2	Sensorineural hearing impairment	HP:0000407
4771	NF2	Migraine	HP:0002076
4771	NF2	Abnormality of the vertebral column	HP:0000925
4771	NF2	Dysgraphia	HP:0010526
4771	NF2	Papule	HP:0200034
4771	NF2	Seizures	HP:0001250
4771	NF2	Ataxia	HP:0001251
4771	NF2	Peripheral neuropathy	HP:0009830
4771	NF2	Tinnitus	HP:0000360
4771	NF2	Pseudoepiphyses of the metacarpals	HP:0009193
4771	NF2	Schwannoma	HP:0100008
4771	NF2	Meningioma	HP:0002858
4771	NF2	Hearing impairment	HP:0000365
4771	NF2	Abnormal retinal vascular morphology	HP:0008046
4771	NF2	Epiretinal membrane	HP:0100014
4771	NF2	Cortical cataract	HP:0100019
4771	NF2	Variable expressivity	HP:0003828
4771	NF2	Bilateral vestibular Schwannoma	HP:0009589
4771	NF2	Incomplete penetrance	HP:0003829
4771	NF2	Unilateral vestibular Schwannoma	HP:0009590
4771	NF2	Abnormality of the skin	HP:0000951
4771	NF2	Astrocytoma	HP:0009592
4771	NF2	Visual impairment	HP:0000505
4771	NF2	Peripheral Schwannoma	HP:0009593
4771	NF2	Retinal hamartoma	HP:0009594
4771	NF2	Sensory neuropathy	HP:0000763
4771	NF2	Occasional neurofibromas	HP:0009595
4771	NF2	Cafe-au-lait spot	HP:0000957
4771	NF2	Adult onset	HP:0003581
4771	NF2	Spinal cord tumor	HP:0010302
4771	NF2	Juvenile posterior subcapsular lenticular opacities	HP:0007935
4774	NFIA	Macrocephaly	HP:0000256
4774	NFIA	Syringomyelia	HP:0003396
4774	NFIA	Cutis marmorata	HP:0000965
4774	NFIA	Ventriculomegaly	HP:0002119
4774	NFIA	Generalized hypotonia	HP:0001290
4774	NFIA	Short chin	HP:0000331
4774	NFIA	Vesicoureteral reflux	HP:0000076
4774	NFIA	Anteverted nares	HP:0000463
4774	NFIA	Broad forehead	HP:0000337
4774	NFIA	Inguinal hernia	HP:0000023
4774	NFIA	Renal hypoplasia	HP:0000089
4774	NFIA	Broad face	HP:0000283
4774	NFIA	Thin upper lip vermilion	HP:0000219
4774	NFIA	Hypoplasia of the corpus callosum	HP:0002079
4774	NFIA	Narrow mouth	HP:0000160
4774	NFIA	Intellectual disability	HP:0001249
4774	NFIA	Sporadic	HP:0003745
4774	NFIA	Seizures	HP:0001250
4774	NFIA	Global developmental delay	HP:0001263
4774	NFIA	Low-set ears	HP:0000369
4774	NFIA	Agenesis of corpus callosum	HP:0001274
4774	NFIA	Arnold-Chiari type I malformation	HP:0007099
4774	NFIA	Short nose	HP:0003196
4774	NFIA	Cognitive impairment	HP:0100543
4774	NFIA	Hydronephrosis	HP:0000126
283310	OTOGL	Autosomal recessive inheritance	HP:0000007
283310	OTOGL	Vestibular hypofunction	HP:0001756
283310	OTOGL	Hearing impairment	HP:0000365
4780	NFE2L2	Leukoencephalopathy	HP:0002352
4780	NFE2L2	Immunodeficiency	HP:0002721
4780	NFE2L2	Failure to thrive	HP:0001508
4780	NFE2L2	Growth delay	HP:0001510
4780	NFE2L2	Intellectual disability, mild	HP:0001256
4780	NFE2L2	Decreased antibody level in blood	HP:0004313
4780	NFE2L2	Infantile onset	HP:0003593
4780	NFE2L2	Delayed speech and language development	HP:0000750
4780	NFE2L2	Global developmental delay	HP:0001263
4780	NFE2L2	Atrial septal defect	HP:0001631
4780	NFE2L2	Recurrent infections	HP:0002719
4781	NFIB	Sparse eyebrow	HP:0045075
4781	NFIB	Anxiety	HP:0000739
4781	NFIB	Long face	HP:0000276
4781	NFIB	Blepharophimosis	HP:0000581
4781	NFIB	Long philtrum	HP:0000343
4781	NFIB	High forehead	HP:0000348
4781	NFIB	Autism	HP:0000717
4781	NFIB	Narrow nasal bridge	HP:0000446
4781	NFIB	Aggressive behavior	HP:0000718
4781	NFIB	Downslanted palpebral fissures	HP:0000494
4781	NFIB	Anteverted nares	HP:0000463
4784	NFIX	Macrocephaly	HP:0000256
4784	NFIX	Umbilical hernia	HP:0001537
4784	NFIX	Omphalocele	HP:0001539
4784	NFIX	Autosomal dominant inheritance	HP:0000006
4784	NFIX	Prominence of the premaxilla	HP:0010759
4784	NFIX	Optic atrophy	HP:0000648
4784	NFIX	Proptosis	HP:0000520
4784	NFIX	Generalized hypotonia	HP:0001290
4784	NFIX	Cerebral atrophy	HP:0002059
4784	NFIX	Overgrowth	HP:0001548
4784	NFIX	Overfolded helix	HP:0000396
4784	NFIX	Irregular dentition	HP:0040079
4784	NFIX	Advanced eruption of teeth	HP:0006288
4784	NFIX	Malar flattening	HP:0000272
4784	NFIX	Narrow face	HP:0000275
4784	NFIX	Long face	HP:0000276
4784	NFIX	Conductive hearing impairment	HP:0000405
4784	NFIX	Retrognathia	HP:0000278
4784	NFIX	Synophrys	HP:0000664
4784	NFIX	Midface retrusion	HP:0011800
4784	NFIX	Short distal phalanx of finger	HP:0009882
4784	NFIX	Hypermetropia	HP:0000540
4784	NFIX	Slender long bone	HP:0003100
4784	NFIX	Narrow mouth	HP:0000160
4784	NFIX	Depressed nasal bridge	HP:0005280
4784	NFIX	Distal widening of metacarpals	HP:0006048
4784	NFIX	Sporadic	HP:0003745
4784	NFIX	Glossoptosis	HP:0000162
4784	NFIX	Cerebellar hypoplasia	HP:0001321
4784	NFIX	Pulmonary arterial hypertension	HP:0002092
4784	NFIX	Mandibular prognathia	HP:0000303
4784	NFIX	Recurrent aspiration pneumonia	HP:0002100
4784	NFIX	Generalized hirsutism	HP:0002230
4784	NFIX	Hypertension	HP:0000822
4784	NFIX	Obstructive sleep apnea	HP:0002870
4784	NFIX	Protruding tongue	HP:0010808
4784	NFIX	Eclabion	HP:0012472
4784	NFIX	Apnea	HP:0002104
4784	NFIX	Macrogyria	HP:0007227
4784	NFIX	Joint hyperflexibility	HP:0005692
4784	NFIX	Hypertelorism	HP:0000316
4784	NFIX	Thick eyebrow	HP:0000574
4784	NFIX	Laryngomalacia	HP:0001601
4784	NFIX	Open mouth	HP:0000194
4784	NFIX	Short mandibular rami	HP:0003778
4784	NFIX	Short philtrum	HP:0000322
4784	NFIX	Thin skin	HP:0000963
4784	NFIX	Choanal stenosis	HP:0000452
4784	NFIX	Cutis marmorata	HP:0000965
4784	NFIX	Choanal atresia	HP:0000453
4784	NFIX	Long fingers	HP:0100807
4784	NFIX	Ventriculomegaly	HP:0002119
4784	NFIX	Shallow orbits	HP:0000586
4784	NFIX	Anteverted nares	HP:0000463
4784	NFIX	Blue sclerae	HP:0000592
4784	NFIX	Bruising susceptibility	HP:0000978
4784	NFIX	Craniosynostosis	HP:0001363
4784	NFIX	Prominent forehead	HP:0011220
4784	NFIX	Gingival overgrowth	HP:0000212
4784	NFIX	Atlantoaxial dislocation	HP:0003414
4784	NFIX	Bowing of the long bones	HP:0006487
4784	NFIX	Frontal bossing	HP:0002007
4784	NFIX	Abnormality of cardiovascular system morphology	HP:0030680
4784	NFIX	Scoliosis	HP:0002650
4784	NFIX	High forehead	HP:0000348
4784	NFIX	Atrial septal defect	HP:0001631
4784	NFIX	Intellectual disability	HP:0001249
4784	NFIX	Tall stature	HP:0000098
4784	NFIX	Astigmatism	HP:0000483
4784	NFIX	Anxiety	HP:0000739
4784	NFIX	Increased susceptibility to fractures	HP:0002659
4784	NFIX	Failure to thrive	HP:0001508
4784	NFIX	Muscular hypotonia	HP:0001252
4784	NFIX	Decreased body weight	HP:0004325
4784	NFIX	Strabismus	HP:0000486
4784	NFIX	Everted lower lip vermilion	HP:0000232
4784	NFIX	Patent ductus arteriosus	HP:0001643
4784	NFIX	Death in childhood	HP:0003819
4784	NFIX	Hearing impairment	HP:0000365
4784	NFIX	Delayed speech and language development	HP:0000750
4784	NFIX	Downslanted palpebral fissures	HP:0000494
4784	NFIX	Short sternum	HP:0000879
4784	NFIX	Hypoplasia of the odontoid process	HP:0003311
4784	NFIX	Accelerated skeletal maturation	HP:0005616
4784	NFIX	Coxa valga	HP:0002673
4784	NFIX	Low-set ears	HP:0000369
4784	NFIX	Large sternal ossification centers	HP:0006642
4784	NFIX	Bullet-shaped middle phalanges of the hand	HP:0009845
4784	NFIX	Motor delay	HP:0001270
4784	NFIX	Agenesis of corpus callosum	HP:0001274
4784	NFIX	Short nose	HP:0003196
4784	NFIX	Reduced bone mineral density	HP:0004349
4784	NFIX	Nystagmus	HP:0000639
4784	NFIX	Pectus excavatum	HP:0000767
4790	NFKB1	Chronic otitis media	HP:0000389
4790	NFKB1	Autosomal dominant inheritance	HP:0000006
4790	NFKB1	Vasculitis	HP:0002633
4790	NFKB1	Arthralgia	HP:0002829
4790	NFKB1	Splenomegaly	HP:0001744
4790	NFKB1	Thrombocytopenia	HP:0001873
4790	NFKB1	Purpura	HP:0000979
4790	NFKB1	Recurrent bronchitis	HP:0002837
4790	NFKB1	Hemolytic anemia	HP:0001878
4790	NFKB1	Decreased antibody level in blood	HP:0004313
4790	NFKB1	Lymphadenopathy	HP:0002716
4790	NFKB1	Elevated hepatic transaminase	HP:0002910
4790	NFKB1	Lymphopenia	HP:0001888
4790	NFKB1	Immunodeficiency	HP:0002721
4790	NFKB1	Anal atresia	HP:0002023
4790	NFKB1	Lymphoma	HP:0002665
4790	NFKB1	Pneumonia	HP:0002090
4790	NFKB1	Restrictive ventilatory defect	HP:0002091
4790	NFKB1	Recurrent skin infections	HP:0001581
4790	NFKB1	Chronic obstructive pulmonary disease	HP:0006510
4790	NFKB1	Recurrent sinopulmonary infections	HP:0005425
4790	NFKB1	Emphysema	HP:0002097
4790	NFKB1	Gastrointestinal stroma tumor	HP:0100723
4790	NFKB1	Variable expressivity	HP:0003828
4790	NFKB1	Autoimmune thrombocytopenia	HP:0001973
4790	NFKB1	Brachycephaly	HP:0000248
4790	NFKB1	Failure to thrive in infancy	HP:0001531
4790	NFKB1	Alopecia	HP:0001596
4790	NFKB1	Bronchiectasis	HP:0002110
4790	NFKB1	Posterior pharyngeal cleft	HP:0006783
4791	NFKB2	Recurrent pneumonia	HP:0006532
4791	NFKB2	Chronic otitis media	HP:0000389
4791	NFKB2	Autosomal dominant inheritance	HP:0000006
4791	NFKB2	Diplopia	HP:0000651
4791	NFKB2	Decreased circulating androgen level	HP:0030349
4791	NFKB2	Arthralgia	HP:0002829
4791	NFKB2	Decreased serum insulin-like growth factor 1	HP:0030353
4791	NFKB2	Recurrent otitis media	HP:0000403
4791	NFKB2	Recurrent bronchitis	HP:0002837
4791	NFKB2	Hypoglycemia	HP:0001943
4791	NFKB2	Lymphadenopathy	HP:0002716
4791	NFKB2	Recurrent respiratory infections	HP:0002205
4791	NFKB2	Immunodeficiency	HP:0002721
4791	NFKB2	Recurrent pharyngitis	HP:0100776
4791	NFKB2	Pneumonia	HP:0002090
4791	NFKB2	Restrictive ventilatory defect	HP:0002091
4791	NFKB2	Hypoglycemic coma	HP:0001325
4791	NFKB2	Emphysema	HP:0002097
4791	NFKB2	Asthma	HP:0002099
4791	NFKB2	Psoriasiform dermatitis	HP:0003765
4791	NFKB2	Autoimmune thrombocytopenia	HP:0001973
4791	NFKB2	Hypotension	HP:0002615
4791	NFKB2	Growth hormone deficiency	HP:0000824
4791	NFKB2	Alopecia	HP:0001596
4791	NFKB2	Bronchiectasis	HP:0002110
4791	NFKB2	Abnormality of the periungual region	HP:0100803
4791	NFKB2	Recurrent hypoglycemia	HP:0001988
4791	NFKB2	Sepsis	HP:0100806
4791	NFKB2	Absence seizure	HP:0002121
4791	NFKB2	Vasculitis	HP:0002633
4791	NFKB2	Recurrent viral infections	HP:0004429
4791	NFKB2	Splenomegaly	HP:0001744
4791	NFKB2	Purpura	HP:0000979
4791	NFKB2	Nail dystrophy	HP:0008404
4791	NFKB2	Trachyonychia	HP:0030804
4791	NFKB2	Hyponatremia	HP:0002902
4791	NFKB2	Central adrenal insufficiency	HP:0011734
4791	NFKB2	Hemolytic anemia	HP:0001878
4791	NFKB2	Adrenocorticotropin deficient adrenal insufficiency	HP:0011735
4791	NFKB2	Abnormal size of pituitary gland	HP:0012504
4791	NFKB2	Decreased antibody level in blood	HP:0004313
4791	NFKB2	Fatigue	HP:0012378
4791	NFKB2	Elevated hepatic transaminase	HP:0002910
4791	NFKB2	Lymphopenia	HP:0001888
4791	NFKB2	Decreased circulating cortisol level	HP:0008163
4791	NFKB2	Recurrent sinusitis	HP:0011108
4791	NFKB2	Failure to thrive	HP:0001508
4791	NFKB2	Anal atresia	HP:0002023
4791	NFKB2	Decreased circulating ACTH level	HP:0002920
4791	NFKB2	Lymphoma	HP:0002665
4791	NFKB2	Global developmental delay	HP:0001263
4791	NFKB2	Gastrointestinal stroma tumor	HP:0100723
4791	NFKB2	Variable expressivity	HP:0003828
4791	NFKB2	Severe B lymphocytopenia	HP:0005365
4791	NFKB2	Brachycephaly	HP:0000248
4791	NFKB2	Alopecia totalis	HP:0007418
4791	NFKB2	Failure to thrive in infancy	HP:0001531
4791	NFKB2	Posterior pharyngeal cleft	HP:0006783
4792	NFKBIA	Aplasia of the sweat glands	HP:0011136
4792	NFKBIA	Autosomal dominant inheritance	HP:0000006
4792	NFKBIA	Hypohidrosis	HP:0000966
4792	NFKBIA	Sparse hair	HP:0008070
4792	NFKBIA	Infantile onset	HP:0003593
4792	NFKBIA	Defective production of NFKB1-dependent cytokines	HP:0011114
4792	NFKBIA	Anhidrosis	HP:0000970
4792	NFKBIA	Concave nasal ridge	HP:0011120
4792	NFKBIA	Anhidrotic ectodermal dysplasia	HP:0007476
4792	NFKBIA	Frontal bossing	HP:0002007
4792	NFKBIA	Conical tooth	HP:0000698
4792	NFKBIA	Hypodontia	HP:0000668
4792	NFKBIA	Recurrent respiratory infections	HP:0002205
4792	NFKBIA	Recurrent infection of the gastrointestinal tract	HP:0004798
4792	NFKBIA	Heat intolerance	HP:0002046
53947	A4GALT	Autosomal dominant inheritance	HP:0000006
53947	A4GALT	Blood group antigen abnormality	HP:0010970
340665	CYP26C1	Abnormal blistering of the skin	HP:0008066
340665	CYP26C1	Hemangioma	HP:0001028
340665	CYP26C1	Autosomal recessive inheritance	HP:0000007
340665	CYP26C1	Short chin	HP:0000331
340665	CYP26C1	Cleft upper lip	HP:0000204
340665	CYP26C1	Hydrocephalus	HP:0000238
340665	CYP26C1	Fragmented elastic fibers in the dermis	HP:0025167
340665	CYP26C1	Abnormal mast cell morphology	HP:0100494
340665	CYP26C1	Cleft palate	HP:0000175
340665	CYP26C1	Abnormality of epidermal morphology	HP:0011124
340665	CYP26C1	Nevus	HP:0003764
340665	CYP26C1	Hemiparesis	HP:0001269
340665	CYP26C1	Intracranial hemorrhage	HP:0002170
340665	CYP26C1	Scarring	HP:0100699
340665	CYP26C1	Microcephaly	HP:0000252
340665	CYP26C1	Abnormality of buccal mucosa	HP:3000019
340665	CYP26C1	Focal-onset seizure	HP:0007359
4803	NGF	Impaired pain sensation	HP:0007328
4803	NGF	Recurrent fever	HP:0001954
4803	NGF	Osteomyelitis	HP:0002754
4803	NGF	Poor wound healing	HP:0001058
4803	NGF	Abnormality of the dentition	HP:0000164
4803	NGF	Painless fractures due to injury	HP:0002661
4803	NGF	Autosomal recessive inheritance	HP:0000007
4803	NGF	Intellectual disability, mild	HP:0001256
4803	NGF	Abnormality of the gingiva	HP:0000168
4803	NGF	Infantile onset	HP:0003593
4803	NGF	Acral ulceration	HP:0006121
4803	NGF	Anhidrosis	HP:0000970
4803	NGF	Deeply set eye	HP:0000490
4803	NGF	Pain insensitivity	HP:0007021
4803	NGF	Impaired temperature sensation	HP:0010829
4803	NGF	Malar flattening	HP:0000272
4803	NGF	Decreased number of small peripheral myelinated nerve fibers	HP:0007249
389827	MYMK	Macrocephaly	HP:0000256
389827	MYMK	Skeletal muscle atrophy	HP:0003202
389827	MYMK	Brachydactyly	HP:0001156
389827	MYMK	Facial palsy	HP:0010628
389827	MYMK	Cataract	HP:0000518
389827	MYMK	Abnormal cardiac septum morphology	HP:0001671
389827	MYMK	Autosomal recessive inheritance	HP:0000007
389827	MYMK	Infantile onset	HP:0003593
389827	MYMK	Generalized hypotonia	HP:0001290
389827	MYMK	Retrognathia	HP:0000278
389827	MYMK	Decreased fetal movement	HP:0001558
389827	MYMK	Aplasia of the pectoralis major muscle	HP:0009751
389827	MYMK	Epicanthus	HP:0000286
389827	MYMK	Tapered finger	HP:0001182
389827	MYMK	Depressed nasal bridge	HP:0005280
389827	MYMK	Glossoptosis	HP:0000162
389827	MYMK	Glandular hypospadias	HP:0000807
389827	MYMK	Microglossia	HP:0000171
389827	MYMK	Severe muscular hypotonia	HP:0006829
389827	MYMK	Respiratory insufficiency	HP:0002093
389827	MYMK	Cleft palate	HP:0000175
389827	MYMK	Aplasia/Hypoplasia of the tongue	HP:0010295
389827	MYMK	Hypoplasia of the brainstem	HP:0002365
389827	MYMK	Aplasia/Hypoplasia of the cerebellum	HP:0007360
389827	MYMK	Feeding difficulties	HP:0011968
389827	MYMK	Laryngeal stenosis	HP:0001602
389827	MYMK	Ventriculomegaly	HP:0002119
389827	MYMK	Broad nasal tip	HP:0000455
389827	MYMK	Pierre-Robin sequence	HP:0000201
389827	MYMK	Plagiocephaly	HP:0001357
389827	MYMK	Anteverted nares	HP:0000463
389827	MYMK	Cerebral calcification	HP:0002514
389827	MYMK	Trismus	HP:0000211
389827	MYMK	Oculomotor nerve palsy	HP:0012246
389827	MYMK	Long philtrum	HP:0000343
389827	MYMK	Scoliosis	HP:0002650
389827	MYMK	High palate	HP:0000218
389827	MYMK	Ophthalmoplegia	HP:0000602
389827	MYMK	Micrognathia	HP:0000347
389827	MYMK	Flexion contracture	HP:0001371
389827	MYMK	Slow progression	HP:0003677
389827	MYMK	Dysphagia	HP:0002015
389827	MYMK	Intellectual disability	HP:0001249
389827	MYMK	Talipes equinovarus	HP:0001762
389827	MYMK	Short stature	HP:0004322
389827	MYMK	Muscular hypotonia	HP:0001252
389827	MYMK	Gastroesophageal reflux	HP:0002020
389827	MYMK	Failure to thrive	HP:0001508
389827	MYMK	Growth delay	HP:0001510
389827	MYMK	Thin vermilion border	HP:0000233
389827	MYMK	Downslanted palpebral fissures	HP:0000494
389827	MYMK	Global developmental delay	HP:0001263
389827	MYMK	Glaucoma	HP:0000501
389827	MYMK	Motor delay	HP:0001270
389827	MYMK	Ulnar deviation of finger	HP:0009465
389827	MYMK	Impaired ocular abduction	HP:0000634
389827	MYMK	Short nose	HP:0003196
389827	MYMK	Microcephaly	HP:0000252
389827	MYMK	Ptosis	HP:0000508
389827	MYMK	Hydronephrosis	HP:0000126
389827	MYMK	Myopathy	HP:0003198
389827	MYMK	Hypertensive crisis	HP:0100735
4810	NHS	Prominent nose	HP:0000448
4810	NHS	Short metacarpal	HP:0010049
4810	NHS	Behavioral abnormality	HP:0000708
4810	NHS	Cataract	HP:0000518
4810	NHS	Sutural cataract	HP:0010695
4810	NHS	Developmental cataract	HP:0000519
4810	NHS	X-linked inheritance	HP:0001417
4810	NHS	Screwdriver-shaped incisors	HP:0006346
4810	NHS	Short phalanx of finger	HP:0009803
4810	NHS	Autism	HP:0000717
4810	NHS	X-linked dominant inheritance	HP:0001423
4810	NHS	Macrotia	HP:0000400
4810	NHS	Narrow face	HP:0000275
4810	NHS	Long face	HP:0000276
4810	NHS	Mulberry molar	HP:0011092
4810	NHS	Protruding ear	HP:0000411
4810	NHS	Broad finger	HP:0001500
4810	NHS	Retinal detachment	HP:0000541
4810	NHS	Posterior Y-sutural cataract	HP:0008031
4810	NHS	Intellectual disability	HP:0001249
4810	NHS	Microcornea	HP:0000482
4810	NHS	Strabismus	HP:0000486
4810	NHS	Intellectual disability, moderate	HP:0002342
4810	NHS	Prominent nasal bridge	HP:0000426
4810	NHS	Mandibular prognathia	HP:0000303
4810	NHS	Nuclear cataract	HP:0100018
4810	NHS	Glaucoma	HP:0000501
4810	NHS	Severely reduced visual acuity	HP:0001141
4810	NHS	Microphthalmia	HP:0000568
4810	NHS	Diastema	HP:0000699
4810	NHS	Visual loss	HP:0000572
4810	NHS	Supernumerary maxillary incisor	HP:0006332
4810	NHS	Increased number of teeth	HP:0011069
4810	NHS	Nystagmus	HP:0000639
168667	BMPER	Increased nuchal translucency	HP:0010880
168667	BMPER	Disproportionate short-trunk short stature	HP:0003521
168667	BMPER	Short thorax	HP:0010306
168667	BMPER	Protuberant abdomen	HP:0001538
168667	BMPER	Nephroblastomatosis	HP:0008643
168667	BMPER	Lumbosacral meningocele	HP:0200133
168667	BMPER	Autosomal recessive inheritance	HP:0000007
168667	BMPER	Abnormal vertebral segmentation and fusion	HP:0005640
168667	BMPER	Depressed nasal ridge	HP:0000457
168667	BMPER	Thoracic hypoplasia	HP:0005257
168667	BMPER	Generalized hypotonia	HP:0001290
168667	BMPER	Narrow pelvis bone	HP:0003275
168667	BMPER	Hypoplastic fingernail	HP:0001804
168667	BMPER	Polymicrogyria	HP:0002126
168667	BMPER	Enlarged thorax	HP:0100625
168667	BMPER	Nephrogenic rest	HP:0100880
168667	BMPER	Abnormal liver lobulation	HP:0100752
168667	BMPER	Webbed neck	HP:0000465
168667	BMPER	Unossified sacrum	HP:0030290
168667	BMPER	Short neck	HP:0000470
168667	BMPER	Inguinal hernia	HP:0000023
168667	BMPER	Absent in utero rib ossification	HP:0006615
168667	BMPER	Missing ribs	HP:0000921
168667	BMPER	Oligohydramnios	HP:0001562
168667	BMPER	Tracheomalacia	HP:0002779
168667	BMPER	Micrognathia	HP:0000347
168667	BMPER	Vertebral segmentation defect	HP:0003422
168667	BMPER	Epicanthus	HP:0000286
168667	BMPER	Depressed nasal bridge	HP:0005280
168667	BMPER	Cystic renal dysplasia	HP:0000800
168667	BMPER	Talipes equinovarus	HP:0001762
168667	BMPER	Hammertoe	HP:0001765
168667	BMPER	Intrauterine growth retardation	HP:0001511
168667	BMPER	Enlarged kidney	HP:0000105
168667	BMPER	Pulmonary hypoplasia	HP:0002089
168667	BMPER	Myelomeningocele	HP:0002475
168667	BMPER	Respiratory insufficiency	HP:0002093
168667	BMPER	Cleft palate	HP:0000175
168667	BMPER	Global developmental delay	HP:0001263
168667	BMPER	Large fontanelles	HP:0000239
168667	BMPER	Low-set ears	HP:0000369
168667	BMPER	Respiratory distress	HP:0002098
168667	BMPER	Absent in utero ossification of vertebral bodies	HP:0008435
168667	BMPER	Absent or minimally ossified vertebral bodies	HP:0004599
168667	BMPER	Bell-shaped thorax	HP:0001591
168667	BMPER	Multiple renal cysts	HP:0005562
168667	BMPER	Short nose	HP:0003196
168667	BMPER	Hypertelorism	HP:0000316
4830	NME1	Spinal cord compression	HP:0002176
4830	NME1	Autosomal dominant inheritance	HP:0000006
4830	NME1	Elevated urinary homovanillic acid	HP:0011977
4830	NME1	Elevated urinary vanillylmandelic acid	HP:0011978
4830	NME1	Elevated urinary dopamine	HP:0011979
4830	NME1	Abdominal mass	HP:0031500
4830	NME1	Heterogeneous	HP:0001425
4830	NME1	Fever	HP:0001945
4830	NME1	Ganglioneuroblastoma	HP:0006747
4830	NME1	Bone pain	HP:0002653
4830	NME1	Diarrhea	HP:0002014
4830	NME1	Weight loss	HP:0001824
4830	NME1	Sporadic	HP:0003745
4830	NME1	Ataxia	HP:0001251
4830	NME1	Failure to thrive	HP:0001508
4830	NME1	Horner syndrome	HP:0002277
4830	NME1	Skin nodule	HP:0200036
4830	NME1	Abdominal pain	HP:0002027
4830	NME1	Opsoclonus	HP:0010543
4830	NME1	Anemia	HP:0001903
4830	NME1	Incomplete penetrance	HP:0003829
4830	NME1	Hypertension	HP:0000822
4830	NME1	Myoclonus	HP:0001336
4830	NME1	Ganglioneuroma	HP:0003005
4830	NME1	Abnormality of the thorax	HP:0000765
4830	NME1	Neuroblastoma	HP:0003006
389856	USP27X	Absent speech	HP:0001344
389856	USP27X	Intellectual disability	HP:0001249
389856	USP27X	Behavioral abnormality	HP:0000708
389856	USP27X	X-linked recessive inheritance	HP:0001419
4838	NODAL	Short philtrum	HP:0000322
4838	NODAL	EMG: myopathic abnormalities	HP:0003458
4838	NODAL	Hemangioma	HP:0001028
4838	NODAL	Choanal atresia	HP:0000453
4838	NODAL	Transposition of the great arteries	HP:0001669
4838	NODAL	Autosomal dominant inheritance	HP:0000006
4838	NODAL	Duodenal atresia	HP:0002247
4838	NODAL	Autosomal recessive inheritance	HP:0000007
4838	NODAL	Maternal diabetes	HP:0009800
4838	NODAL	Anteverted nares	HP:0000463
4838	NODAL	Holoprosencephaly	HP:0001360
4838	NODAL	Midnasal stenosis	HP:0010644
4838	NODAL	Premature birth	HP:0001622
4838	NODAL	Hypotelorism	HP:0000601
4838	NODAL	Scoliosis	HP:0002650
4838	NODAL	Ventricular septal defect	HP:0001629
4838	NODAL	Atrial septal defect	HP:0001631
4838	NODAL	Hypoplasia of penis	HP:0008736
4838	NODAL	Intellectual disability	HP:0001249
4838	NODAL	Short stature	HP:0004322
4838	NODAL	Seizures	HP:0001250
4838	NODAL	Abdominal situs inversus	HP:0003363
4838	NODAL	Iris coloboma	HP:0000612
4838	NODAL	Tetralogy of Fallot	HP:0001636
4838	NODAL	Strabismus	HP:0000486
4838	NODAL	Abnormality of the respiratory system	HP:0002086
4838	NODAL	Panhypopituitarism	HP:0000871
4838	NODAL	Intrauterine growth retardation	HP:0001511
4838	NODAL	Renal agenesis	HP:0000104
4838	NODAL	Single median maxillary incisor	HP:0006315
4838	NODAL	Cleft palate	HP:0000175
4838	NODAL	Asthma	HP:0002099
4838	NODAL	Dextrocardia	HP:0001651
4838	NODAL	Tented upper lip vermilion	HP:0010804
4838	NODAL	Hypothyroidism	HP:0000821
4838	NODAL	Cyclopia	HP:0009914
4838	NODAL	Agenesis of corpus callosum	HP:0001274
4838	NODAL	Short nose	HP:0003196
4838	NODAL	Microcephaly	HP:0000252
4838	NODAL	Narrow nasal bridge	HP:0000446
4838	NODAL	Ambiguous genitalia	HP:0000062
4841	NONO	Macrocephaly	HP:0000256
4841	NONO	Prominent nose	HP:0000448
4841	NONO	Increased head circumference	HP:0040194
4841	NONO	Open mouth	HP:0000194
4841	NONO	Right ventricular hypertrophy	HP:0001667
4841	NONO	Upslanted palpebral fissure	HP:0000582
4841	NONO	Generalized hypotonia	HP:0001290
4841	NONO	Nasal speech	HP:0001611
4841	NONO	X-linked recessive inheritance	HP:0001419
4841	NONO	Aggressive behavior	HP:0000718
4841	NONO	Mild global developmental delay	HP:0011342
4841	NONO	Perseveration	HP:0030223
4841	NONO	Malar flattening	HP:0000272
4841	NONO	High, narrow palate	HP:0002705
4841	NONO	Long face	HP:0000276
4841	NONO	Frontal bossing	HP:0002007
4841	NONO	Left ventricular noncompaction	HP:0030682
4841	NONO	Scoliosis	HP:0002650
4841	NONO	Wide mouth	HP:0000154
4841	NONO	Cryptorchidism	HP:0000028
4841	NONO	Ventricular septal defect	HP:0001629
4841	NONO	Hallux valgus	HP:0001822
4841	NONO	Narrow mouth	HP:0000160
4841	NONO	Myopia	HP:0000545
4841	NONO	Intellectual disability	HP:0001249
4841	NONO	Seizures	HP:0001250
4841	NONO	Ataxia	HP:0001251
4841	NONO	Pes planus	HP:0001763
4841	NONO	Gastroesophageal reflux	HP:0002020
4841	NONO	Strabismus	HP:0000486
4841	NONO	Dental crowding	HP:0000678
4841	NONO	Neonatal hypotonia	HP:0001319
4841	NONO	Cerebellar hypoplasia	HP:0001321
4841	NONO	Patent ductus arteriosus	HP:0001643
4841	NONO	Joint laxity	HP:0001388
4841	NONO	Widely spaced teeth	HP:0000687
4841	NONO	Motor delay	HP:0001270
4841	NONO	Patent foramen ovale	HP:0001655
4841	NONO	Delayed puberty	HP:0000823
4841	NONO	Kyphosis	HP:0002808
4841	NONO	Tremor	HP:0001337
4841	NONO	Deviated nasal septum	HP:0004411
4841	NONO	Thickened calvaria	HP:0002684
4841	NONO	Slender build	HP:0001533
340719	NANOS1	Sperm tail anomaly	HP:0012868
340719	NANOS1	Infertility	HP:0000789
340719	NANOS1	Increased circulating gonadotropin level	HP:0000837
340719	NANOS1	Autosomal dominant inheritance	HP:0000006
340719	NANOS1	Non-obstructive azoospermia	HP:0011961
340719	NANOS1	Obstructive azoospermia	HP:0011962
340719	NANOS1	Azoospermia	HP:0000027
340719	NANOS1	Globozoospermia	HP:0012205
340719	NANOS1	Decreased testicular size	HP:0008734
340719	NANOS1	Abnormal male germ cell morphology	HP:0012863
4842	NOS1	Achalasia	HP:0002571
283375	SLC39A5	Myopia	HP:0000545
283375	SLC39A5	Autosomal dominant inheritance	HP:0000006
4851	NOTCH1	Aplastic/hypoplastic toenail	HP:0010624
4851	NOTCH1	Umbilical hernia	HP:0001537
4851	NOTCH1	Portal hypertension	HP:0001409
4851	NOTCH1	Right ventricular hypertrophy	HP:0001667
4851	NOTCH1	Brachydactyly	HP:0001156
4851	NOTCH1	Ascites	HP:0001541
4851	NOTCH1	Autosomal dominant inheritance	HP:0000006
4851	NOTCH1	Cataract	HP:0000518
4851	NOTCH1	Sparse hair	HP:0008070
4851	NOTCH1	Syndactyly	HP:0001159
4851	NOTCH1	Absent toe	HP:0010760
4851	NOTCH1	Abnormality of the metacarpal bones	HP:0001163
4851	NOTCH1	Hypoplastic fingernail	HP:0001804
4851	NOTCH1	Coarctation of aorta	HP:0001680
4851	NOTCH1	Dystrophic toenail	HP:0001810
4851	NOTCH1	Cutis marmorata telangiectatica congenita	HP:0025107
4851	NOTCH1	Split hand	HP:0001171
4851	NOTCH1	Inguinal hernia	HP:0000023
4851	NOTCH1	Cavernous hemangioma	HP:0001048
4851	NOTCH1	Absent fingernail	HP:0001817
4851	NOTCH1	Short distal phalanx of finger	HP:0009882
4851	NOTCH1	Aortic valve calcification	HP:0004380
4851	NOTCH1	Hypoplastic left heart	HP:0004383
4851	NOTCH1	Aplasia cutis congenita	HP:0001057
4851	NOTCH1	Portal vein thrombosis	HP:0030242
4851	NOTCH1	Encephalocele	HP:0002084
4851	NOTCH1	Pulmonary arterial hypertension	HP:0002092
4851	NOTCH1	EEG abnormality	HP:0002353
4851	NOTCH1	Hypersplenism	HP:0001971
4851	NOTCH1	Congenital hepatic fibrosis	HP:0002612
4851	NOTCH1	Hypertension	HP:0000822
4851	NOTCH1	Microphthalmia	HP:0000568
4851	NOTCH1	Periventricular leukomalacia	HP:0006970
4851	NOTCH1	Arteriovenous malformation	HP:0100026
4851	NOTCH1	Alopecia	HP:0001596
4851	NOTCH1	Gastrointestinal hemorrhage	HP:0002239
4851	NOTCH1	Heart murmur	HP:0030148
4851	NOTCH1	Ascending aortic dissection	HP:0004933
4851	NOTCH1	Cutis marmorata	HP:0000965
4851	NOTCH1	Pulmonary artery atresia	HP:0004935
4851	NOTCH1	Splenomegaly	HP:0001744
4851	NOTCH1	Thrombocytopenia	HP:0001873
4851	NOTCH1	Absent hand	HP:0004050
4851	NOTCH1	Calvarial skull defect	HP:0001362
4851	NOTCH1	Porencephalic cyst	HP:0002132
4851	NOTCH1	Finger syndactyly	HP:0006101
4851	NOTCH1	Premature birth	HP:0001622
4851	NOTCH1	Leukopenia	HP:0001882
4851	NOTCH1	Talipes	HP:0001883
4851	NOTCH1	Abnormal left ventricular outflow tract morphology	HP:0011103
4851	NOTCH1	Intellectual disability	HP:0001249
4851	NOTCH1	Seizures	HP:0001250
4851	NOTCH1	Thoracic aorta calcification	HP:0004962
4851	NOTCH1	Tetralogy of Fallot	HP:0001636
4851	NOTCH1	Failure to thrive	HP:0001508
4851	NOTCH1	Strabismus	HP:0000486
4851	NOTCH1	Abnormal pulmonary valve morphology	HP:0001641
4851	NOTCH1	Pulmonic stenosis	HP:0001642
4851	NOTCH1	Hydrocephalus	HP:0000238
4851	NOTCH1	Bicuspid aortic valve	HP:0001647
4851	NOTCH1	Aortic valve stenosis	HP:0001650
4851	NOTCH1	Cirrhosis	HP:0001394
4851	NOTCH1	Hemiparesis	HP:0001269
4851	NOTCH1	Patent foramen ovale	HP:0001655
4851	NOTCH1	Esophageal varix	HP:0002040
4851	NOTCH1	Aortic arch aneurysm	HP:0005113
4851	NOTCH1	Aortic regurgitation	HP:0001659
4851	NOTCH1	Hypertonia	HP:0001276
4851	NOTCH1	Right atrial enlargement	HP:0030718
4853	NOTCH2	Macrocephaly	HP:0000256
4853	NOTCH2	Pectus carinatum	HP:0000768
4853	NOTCH2	Umbilical hernia	HP:0001537
4853	NOTCH2	Arnold-Chiari malformation	HP:0002308
4853	NOTCH2	Autosomal dominant inheritance	HP:0000006
4853	NOTCH2	Intestinal malrotation	HP:0002566
4853	NOTCH2	Cataract	HP:0000518
4853	NOTCH2	Short nail	HP:0001799
4853	NOTCH2	Dislocated radial head	HP:0003083
4853	NOTCH2	Headache	HP:0002315
4853	NOTCH2	Dolichocephaly	HP:0000268
4853	NOTCH2	Prominent occiput	HP:0000269
4853	NOTCH2	Arthralgia	HP:0002829
4853	NOTCH2	Cervical instability	HP:0008462
4853	NOTCH2	Long eyelashes	HP:0000527
4853	NOTCH2	Large earlobe	HP:0009748
4853	NOTCH2	Hematuria	HP:0000790
4853	NOTCH2	Inguinal hernia	HP:0000023
4853	NOTCH2	Coarse facial features	HP:0000280
4853	NOTCH2	Cryptorchidism	HP:0000028
4853	NOTCH2	Epicanthus	HP:0000286
4853	NOTCH2	Myopia	HP:0000545
4853	NOTCH2	Crowded carpal bones	HP:0006180
4853	NOTCH2	Full cheeks	HP:0000293
4853	NOTCH2	Low anterior hairline	HP:0000294
4853	NOTCH2	Short toe	HP:0001831
4853	NOTCH2	Genu valgum	HP:0002857
4853	NOTCH2	Partial absence of toe	HP:0011305
4853	NOTCH2	Osteolytic defects of the phalanges of the hand	HP:0009771
4853	NOTCH2	Hypospadias	HP:0000047
4853	NOTCH2	Thickened skin	HP:0001072
4853	NOTCH2	Foot acroosteolysis	HP:0001842
4853	NOTCH2	Cholestatic liver disease	HP:0002611
4853	NOTCH2	Pointed chin	HP:0000307
4853	NOTCH2	Hypertension	HP:0000822
4853	NOTCH2	Open bite	HP:0010807
4853	NOTCH2	Delayed puberty	HP:0000823
4853	NOTCH2	Hypertelorism	HP:0000316
4853	NOTCH2	Joint hyperflexibility	HP:0005692
4853	NOTCH2	Thick eyebrow	HP:0000574
4853	NOTCH2	Rough bone trabeculation	HP:0100670
4853	NOTCH2	Syringomyelia	HP:0003396
4853	NOTCH2	Triangular face	HP:0000325
4853	NOTCH2	Abnormality of the voice	HP:0001608
4853	NOTCH2	Premature loss of teeth	HP:0006480
4853	NOTCH2	Broad forehead	HP:0000337
4853	NOTCH2	Renal insufficiency	HP:0000083
4853	NOTCH2	Wormian bones	HP:0002645
4853	NOTCH2	Long philtrum	HP:0000343
4853	NOTCH2	Elongated sella turcica	HP:0005463
4853	NOTCH2	Bowing of the long bones	HP:0006487
4853	NOTCH2	Renal hypoplasia	HP:0000089
4853	NOTCH2	Scoliosis	HP:0002650
4853	NOTCH2	Micrognathia	HP:0000347
4853	NOTCH2	Skeletal dysplasia	HP:0002652
4853	NOTCH2	Proteinuria	HP:0000093
4853	NOTCH2	Ventricular septal defect	HP:0001629
4853	NOTCH2	Bone pain	HP:0002653
4853	NOTCH2	Atrial septal defect	HP:0001631
4853	NOTCH2	Tetralogy of Fallot	HP:0001636
4853	NOTCH2	Iris coloboma	HP:0000612
4853	NOTCH2	Peripheral neuropathy	HP:0009830
4853	NOTCH2	Peripheral pulmonary artery stenosis	HP:0004969
4853	NOTCH2	Skin ulcer	HP:0200042
4853	NOTCH2	Pulmonic stenosis	HP:0001642
4853	NOTCH2	Renal cyst	HP:0000107
4853	NOTCH2	Patent ductus arteriosus	HP:0001643
4853	NOTCH2	Joint laxity	HP:0001388
4853	NOTCH2	Hearing impairment	HP:0000365
4853	NOTCH2	Low-set ears	HP:0000369
4853	NOTCH2	Aortic valve stenosis	HP:0001650
4853	NOTCH2	Posterior embryotoxon	HP:0000627
4853	NOTCH2	Long nose	HP:0003189
4853	NOTCH2	Basilar impression	HP:0005758
4853	NOTCH2	Absent frontal sinuses	HP:0002688
4853	NOTCH2	Platybasia	HP:0002691
4853	NOTCH2	Brachydactyly	HP:0001156
4853	NOTCH2	Abnormal cardiac septum morphology	HP:0001671
4853	NOTCH2	Vertebral compression fractures	HP:0002953
4853	NOTCH2	Conductive hearing impairment	HP:0000405
4853	NOTCH2	Synophrys	HP:0000664
4853	NOTCH2	Downturned corners of mouth	HP:0002714
4853	NOTCH2	Short distal phalanx of finger	HP:0009882
4853	NOTCH2	Renal tubular acidosis	HP:0001947
4853	NOTCH2	Recurrent respiratory infections	HP:0002205
4853	NOTCH2	Narrow mouth	HP:0000160
4853	NOTCH2	Coarse hair	HP:0002208
4853	NOTCH2	Osteopenia	HP:0000938
4853	NOTCH2	Osteoporosis	HP:0000939
4853	NOTCH2	Hypoplasia of the zygomatic bone	HP:0010669
4853	NOTCH2	Cleft palate	HP:0000175
4853	NOTCH2	Wide nasal bridge	HP:0000431
4853	NOTCH2	Dental malocclusion	HP:0000689
4853	NOTCH2	Mitral stenosis	HP:0001718
4853	NOTCH2	Generalized hirsutism	HP:0002230
4853	NOTCH2	Patellar dislocation	HP:0002999
4853	NOTCH2	Multiple renal cysts	HP:0005562
4853	NOTCH2	Wide nose	HP:0000445
4853	NOTCH2	Dry skin	HP:0000958
4853	NOTCH2	Kyphoscoliosis	HP:0002751
4853	NOTCH2	Hepatomegaly	HP:0002240
4853	NOTCH2	Periodontitis	HP:0000704
4853	NOTCH2	Pathologic fracture	HP:0002756
4853	NOTCH2	Recurrent fractures	HP:0002757
4853	NOTCH2	Anteverted nares	HP:0000463
4853	NOTCH2	Abnormal fingernail morphology	HP:0001231
4853	NOTCH2	Splenomegaly	HP:0001744
4853	NOTCH2	Short neck	HP:0000470
4853	NOTCH2	High palate	HP:0000218
4853	NOTCH2	Short stature	HP:0004322
4853	NOTCH2	Failure to thrive	HP:0001508
4853	NOTCH2	Tall lumbar vertebral bodies	HP:0008421
4853	NOTCH2	Hypoplastic 5th lumbar vertebrae	HP:0008424
4853	NOTCH2	Thin vermilion border	HP:0000233
4853	NOTCH2	Biconcave vertebral bodies	HP:0004586
4853	NOTCH2	Decreased skull ossification	HP:0004331
4853	NOTCH2	Osteolysis	HP:0002797
4853	NOTCH2	Downslanted palpebral fissures	HP:0000494
4853	NOTCH2	Hydrocephalus	HP:0000238
4853	NOTCH2	Hirsutism	HP:0001007
4853	NOTCH2	Kyphosis	HP:0002808
4853	NOTCH2	Telecanthus	HP:0000506
4854	NOTCH3	Abnormal electroretinogram	HP:0000512
4854	NOTCH3	Hypercalcemia	HP:0003072
4854	NOTCH3	Umbilical hernia	HP:0001537
4854	NOTCH3	Arnold-Chiari malformation	HP:0002308
4854	NOTCH3	Autosomal dominant inheritance	HP:0000006
4854	NOTCH3	Proptosis	HP:0000520
4854	NOTCH3	Gait disturbance	HP:0001288
4854	NOTCH3	Confusion	HP:0001289
4854	NOTCH3	Generalized hypotonia	HP:0001290
4854	NOTCH3	Abnormality of the rib cage	HP:0001547
4854	NOTCH3	Dolichocephaly	HP:0000268
4854	NOTCH3	Tracheoesophageal fistula	HP:0002575
4854	NOTCH3	Malar flattening	HP:0000272
4854	NOTCH3	Stroke	HP:0001297
4854	NOTCH3	Narrow face	HP:0000275
4854	NOTCH3	Urinary incontinence	HP:0000020
4854	NOTCH3	Hemiplegia/hemiparesis	HP:0004374
4854	NOTCH3	Inguinal hernia	HP:0000023
4854	NOTCH3	Abnormality of extrapyramidal motor function	HP:0002071
4854	NOTCH3	Cryptorchidism	HP:0000028
4854	NOTCH3	Migraine	HP:0002076
4854	NOTCH3	Epicanthus	HP:0000286
4854	NOTCH3	Bone cyst	HP:0012062
4854	NOTCH3	Leukoencephalopathy	HP:0002352
4854	NOTCH3	EEG abnormality	HP:0002353
4854	NOTCH3	Memory impairment	HP:0002354
4854	NOTCH3	Hypertension	HP:0000822
4854	NOTCH3	Varicose veins	HP:0002619
4854	NOTCH3	Abnormal hair morphology	HP:0001595
4854	NOTCH3	Hypertelorism	HP:0000316
4854	NOTCH3	Joint hyperflexibility	HP:0005692
4854	NOTCH3	Visual loss	HP:0000572
4854	NOTCH3	Atherosclerosis	HP:0002621
4854	NOTCH3	Smooth philtrum	HP:0000319
4854	NOTCH3	Syringomyelia	HP:0003396
4854	NOTCH3	Recurrent subcortical infarcts	HP:0007236
4854	NOTCH3	Developmental regression	HP:0002376
4854	NOTCH3	Cerebral cortical atrophy	HP:0002120
4854	NOTCH3	Abnormality of the kidney	HP:0000077
4854	NOTCH3	Cerebral ischemia	HP:0002637
4854	NOTCH3	Aphasia	HP:0002381
4854	NOTCH3	Neoplasm of the pancreas	HP:0002894
4854	NOTCH3	Wormian bones	HP:0002645
4854	NOTCH3	Long philtrum	HP:0000343
4854	NOTCH3	Scoliosis	HP:0002650
4854	NOTCH3	Micrognathia	HP:0000347
4854	NOTCH3	Ventricular septal defect	HP:0001629
4854	NOTCH3	Intestinal obstruction	HP:0005214
4854	NOTCH3	Arachnoid cyst	HP:0100702
4854	NOTCH3	Limitation of joint mobility	HP:0001376
4854	NOTCH3	Abnormality of the middle ear ossicles	HP:0004452
4854	NOTCH3	Iris coloboma	HP:0000612
4854	NOTCH3	Posteriorly rotated ears	HP:0000358
4854	NOTCH3	Peripheral neuropathy	HP:0009830
4854	NOTCH3	Joint hypermobility	HP:0001382
4854	NOTCH3	Skin ulcer	HP:0200042
4854	NOTCH3	Patent ductus arteriosus	HP:0001643
4854	NOTCH3	Prominent metopic ridge	HP:0005487
4854	NOTCH3	Bicuspid aortic valve	HP:0001647
4854	NOTCH3	Pseudobulbar paralysis	HP:0007024
4854	NOTCH3	Retinal arteriolar tortuosity	HP:0001136
4854	NOTCH3	Low-set ears	HP:0000369
4854	NOTCH3	Low posterior hairline	HP:0002162
4854	NOTCH3	Short nasal bridge	HP:0003194
4854	NOTCH3	Meningocele	HP:0002435
4854	NOTCH3	Platybasia	HP:0002691
4854	NOTCH3	Vertebral fusion	HP:0002948
4854	NOTCH3	Recurrent pneumonia	HP:0006532
4854	NOTCH3	Neoplasm of the skin	HP:0008069
4854	NOTCH3	Sclerosis of skull base	HP:0002694
4854	NOTCH3	Abnormality of visual evoked potentials	HP:0000649
4854	NOTCH3	Craniofacial hyperostosis	HP:0004493
4854	NOTCH3	Subcutaneous hemorrhage	HP:0001933
4854	NOTCH3	High, narrow palate	HP:0002705
4854	NOTCH3	Conductive hearing impairment	HP:0000405
4854	NOTCH3	Sensorineural hearing impairment	HP:0000407
4854	NOTCH3	Hypoglycemia	HP:0001943
4854	NOTCH3	Fever	HP:0001945
4854	NOTCH3	Atresia of the external auditory canal	HP:0000413
4854	NOTCH3	Coarse hair	HP:0002208
4854	NOTCH3	Impaired pain sensation	HP:0007328
4854	NOTCH3	Abnormality of the skull	HP:0000929
4854	NOTCH3	Elevated serum creatine kinase	HP:0003236
4854	NOTCH3	Dental crowding	HP:0000678
4854	NOTCH3	Dural ectasia	HP:0100775
4854	NOTCH3	Chondrocalcinosis	HP:0000934
4854	NOTCH3	Cranial nerve paralysis	HP:0006824
4854	NOTCH3	Gingival fibromatosis	HP:0000169
4854	NOTCH3	Neoplasm of the lung	HP:0100526
4854	NOTCH3	Abnormality of the metaphysis	HP:0000944
4854	NOTCH3	Abnormality of the skin	HP:0000951
4854	NOTCH3	Arnold-Chiari type I malformation	HP:0007099
4854	NOTCH3	Abnormality of the musculature	HP:0003011
4854	NOTCH3	Behavioral abnormality	HP:0000708
4854	NOTCH3	Subcutaneous nodule	HP:0001482
4854	NOTCH3	Depressivity	HP:0000716
4854	NOTCH3	Nonarteritic anterior ischemic optic neuropathy	HP:0007634
4854	NOTCH3	Subcortical dementia	HP:0007123
4854	NOTCH3	Subdural hemorrhage	HP:0100309
4854	NOTCH3	Short neck	HP:0000470
4854	NOTCH3	Dementia	HP:0000726
4854	NOTCH3	High palate	HP:0000218
4854	NOTCH3	Abnormality of the eye	HP:0000478
4854	NOTCH3	Amaurosis fugax	HP:0100576
4854	NOTCH3	Seizures	HP:0001250
4854	NOTCH3	Benign neoplasm of the central nervous system	HP:0100835
4854	NOTCH3	Short stature	HP:0004322
4854	NOTCH3	Muscular hypotonia	HP:0001252
4854	NOTCH3	Irregular hyperpigmentation	HP:0007400
4854	NOTCH3	Spasticity	HP:0001257
4854	NOTCH3	Biconcave vertebral bodies	HP:0004586
4854	NOTCH3	Hyperlordosis	HP:0003307
4854	NOTCH3	Coma	HP:0001259
4854	NOTCH3	Osteolysis	HP:0002797
4854	NOTCH3	Downslanted palpebral fissures	HP:0000494
4854	NOTCH3	Global developmental delay	HP:0001263
4854	NOTCH3	Abnormal form of the vertebral bodies	HP:0003312
4854	NOTCH3	Abnormal sacrum morphology	HP:0005107
4854	NOTCH3	Motor delay	HP:0001270
4854	NOTCH3	Kyphosis	HP:0002808
4854	NOTCH3	Visual impairment	HP:0000505
4854	NOTCH3	Sensory neuropathy	HP:0000763
4854	NOTCH3	Ptosis	HP:0000508
4854	NOTCH3	Adult onset	HP:0003581
4854	NOTCH3	Abnormality of the thorax	HP:0000765
4854	NOTCH3	Hemiplegia	HP:0002301
4854	NOTCH3	Pectus excavatum	HP:0000767
4860	PNP	Otitis media	HP:0000388
4860	PNP	Behavioral abnormality	HP:0000708
4860	PNP	Cerebral vasculitis	HP:0005318
4860	PNP	Autosomal recessive inheritance	HP:0000007
4860	PNP	Recurrent urinary tract infections	HP:0000010
4860	PNP	Generalized hypotonia	HP:0001290
4860	PNP	Recurrent viral infections	HP:0004429
4860	PNP	Recurrent opportunistic infections	HP:0005390
4860	PNP	Splenomegaly	HP:0001744
4860	PNP	Hypouricemia	HP:0003537
4860	PNP	Recurrent bacterial infections	HP:0002718
4860	PNP	Recurrent lower respiratory tract infections	HP:0002783
4860	PNP	Lymphopenia	HP:0001888
4860	PNP	Intellectual disability	HP:0001249
4860	PNP	Tetraparesis	HP:0002273
4860	PNP	Autoimmune hemolytic anemia	HP:0001890
4860	PNP	Ataxia	HP:0001251
4860	PNP	Recurrent upper respiratory tract infections	HP:0002788
4860	PNP	Muscular hypotonia	HP:0001252
4860	PNP	Failure to thrive	HP:0001508
4860	PNP	Lymphoma	HP:0002665
4860	PNP	Pneumonia	HP:0002090
4860	PNP	Lymph node hypoplasia	HP:0002732
4860	PNP	Spastic diplegia	HP:0001264
4860	PNP	Neutropenia in presence of anti-neutropil antibodies	HP:0001904
4860	PNP	Autoimmune thrombocytopenia	HP:0001973
4860	PNP	Sinusitis	HP:0000246
4860	PNP	Motor delay	HP:0001270
4860	PNP	Tremor	HP:0001337
4860	PNP	Impaired T cell function	HP:0005435
4860	PNP	Abnormality of B cell physiology	HP:0005372
135935	NOBOX	Premature ovarian insufficiency	HP:0008209
135935	NOBOX	Primary amenorrhea	HP:0000786
135935	NOBOX	Secondary amenorrhea	HP:0000869
135935	NOBOX	Autosomal dominant inheritance	HP:0000006
4864	NPC1	Hepatomegaly	HP:0002240
4864	NPC1	Loss of speech	HP:0002371
4864	NPC1	Psychosis	HP:0000709
4864	NPC1	Autosomal recessive inheritance	HP:0000007
4864	NPC1	Neurofibrillary tangles	HP:0002185
4864	NPC1	Generalized hypotonia	HP:0001290
4864	NPC1	Splenomegaly	HP:0001744
4864	NPC1	Heterogeneous	HP:0001425
4864	NPC1	Low cholesterol esterification rate	HP:0003349
4864	NPC1	Dementia	HP:0000726
4864	NPC1	Onset	HP:0003674
4864	NPC1	Cataplexy	HP:0002524
4864	NPC1	Dysphagia	HP:0002015
4864	NPC1	Intellectual disability	HP:0001249
4864	NPC1	Neuronal loss in central nervous system	HP:0002529
4864	NPC1	Seizures	HP:0001250
4864	NPC1	Ataxia	HP:0001251
4864	NPC1	Muscular hypotonia	HP:0001252
4864	NPC1	Spasticity	HP:0001257
4864	NPC1	Dysarthria	HP:0001260
4864	NPC1	Bone-marrow foam cells	HP:0004333
4864	NPC1	Global developmental delay	HP:0001263
4864	NPC1	Prolonged neonatal jaundice	HP:0006579
4864	NPC1	Dystonia	HP:0001332
4864	NPC1	Fatal liver failure in infancy	HP:0006583
4864	NPC1	Foam cells in visceral organs and CNS	HP:0003640
4864	NPC1	Sea-blue histiocytosis	HP:0001982
4864	NPC1	Fetal ascites	HP:0001791
4864	NPC1	Vertical supranuclear gaze palsy	HP:0000511
4867	NPHP1	Abnormal electroretinogram	HP:0000512
4867	NPHP1	Skeletal muscle atrophy	HP:0003202
4867	NPHP1	Multicystic kidney dysplasia	HP:0000003
4867	NPHP1	Cataract	HP:0000518
4867	NPHP1	Autosomal recessive inheritance	HP:0000007
4867	NPHP1	Hypogonadism	HP:0000135
4867	NPHP1	Gait disturbance	HP:0001288
4867	NPHP1	Hand polydactyly	HP:0001161
4867	NPHP1	Generalized hypotonia	HP:0001290
4867	NPHP1	Postaxial hand polydactyly	HP:0001162
4867	NPHP1	Heterogeneous	HP:0001425
4867	NPHP1	Premature ovarian insufficiency	HP:0008209
4867	NPHP1	Progressive visual loss	HP:0000529
4867	NPHP1	Oculomotor apraxia	HP:0000657
4867	NPHP1	Delayed gross motor development	HP:0002194
4867	NPHP1	Long face	HP:0000276
4867	NPHP1	Hypoplasia of the ovary	HP:0008724
4867	NPHP1	Abnormality of retinal pigmentation	HP:0007703
4867	NPHP1	Cryptorchidism	HP:0000028
4867	NPHP1	Elongated superior cerebellar peduncle	HP:0011933
4867	NPHP1	Hypoplasia of penis	HP:0008736
4867	NPHP1	Encephalocele	HP:0002084
4867	NPHP1	Polydipsia	HP:0001959
4867	NPHP1	Cerebellar vermis hypoplasia	HP:0001320
4867	NPHP1	Prominent nasal bridge	HP:0000426
4867	NPHP1	Retinal dystrophy	HP:0000556
4867	NPHP1	Cleft palate	HP:0000175
4867	NPHP1	Congenital hepatic fibrosis	HP:0002612
4867	NPHP1	Hypertension	HP:0000822
4867	NPHP1	Generalized hirsutism	HP:0002230
4867	NPHP1	Apnea	HP:0002104
4867	NPHP1	Tremor	HP:0001337
4867	NPHP1	Hypometric saccades	HP:0000571
4867	NPHP1	Stage 5 chronic kidney disease	HP:0003774
4867	NPHP1	Cognitive impairment	HP:0100543
4867	NPHP1	Feeding difficulties	HP:0011968
4867	NPHP1	Pigmentary retinopathy	HP:0000580
4867	NPHP1	Biparietal narrowing	HP:0004422
4867	NPHP1	Tubulointerstitial fibrosis	HP:0005576
4867	NPHP1	Aganglionic megacolon	HP:0002251
4867	NPHP1	Polymicrogyria	HP:0002126
4867	NPHP1	Tubular basement membrane disintegration	HP:0005583
4867	NPHP1	Anteverted nares	HP:0000463
4867	NPHP1	Cone-shaped epiphysis	HP:0010579
4867	NPHP1	Renal insufficiency	HP:0000083
4867	NPHP1	Finger syndactyly	HP:0006101
4867	NPHP1	Hyposthenuria	HP:0003158
4867	NPHP1	Short neck	HP:0000470
4867	NPHP1	Abnormality of cardiovascular system morphology	HP:0030680
4867	NPHP1	Nephronophthisis	HP:0000090
4867	NPHP1	Scoliosis	HP:0002650
4867	NPHP1	Tubular atrophy	HP:0000092
4867	NPHP1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
4867	NPHP1	Intellectual disability	HP:0001249
4867	NPHP1	Short stature	HP:0004322
4867	NPHP1	Seizures	HP:0001250
4867	NPHP1	Ataxia	HP:0001251
4867	NPHP1	Thickened superior cerebellar peduncle	HP:0002404
4867	NPHP1	Iris coloboma	HP:0000612
4867	NPHP1	Muscular hypotonia	HP:0001252
4867	NPHP1	Nephrotic syndrome	HP:0000100
4867	NPHP1	Growth delay	HP:0001510
4867	NPHP1	Strabismus	HP:0000486
4867	NPHP1	Polyuria	HP:0000103
4867	NPHP1	Obesity	HP:0001513
4867	NPHP1	Renal corticomedullary cysts	HP:0000108
4867	NPHP1	Hearing impairment	HP:0000365
4867	NPHP1	Hydrocephalus	HP:0000238
4867	NPHP1	Downslanted palpebral fissures	HP:0000494
4867	NPHP1	Anemia	HP:0001903
4867	NPHP1	Global developmental delay	HP:0001263
4867	NPHP1	Nephropathy	HP:0000112
4867	NPHP1	Low-set, posteriorly rotated ears	HP:0000368
4867	NPHP1	Molar tooth sign on MRI	HP:0002419
4867	NPHP1	Hepatic fibrosis	HP:0001395
4867	NPHP1	Neurological speech impairment	HP:0002167
4867	NPHP1	Highly arched eyebrow	HP:0002553
4867	NPHP1	Agenesis of corpus callosum	HP:0001274
4867	NPHP1	Medial flaring of the eyebrow	HP:0010747
4867	NPHP1	Abnormality of bone mineral density	HP:0004348
4867	NPHP1	Ptosis	HP:0000508
4867	NPHP1	Rod-cone dystrophy	HP:0000510
4867	NPHP1	Nystagmus	HP:0000639
4868	NPHS1	Hypoalbuminemia	HP:0003073
4868	NPHS1	Hypoproteinemia	HP:0003075
4868	NPHS1	Hyperlipidemia	HP:0003077
4868	NPHS1	Abdominal distention	HP:0003270
4868	NPHS1	Autosomal recessive inheritance	HP:0000007
4868	NPHS1	Edema	HP:0000969
4868	NPHS1	Neonatal respiratory distress	HP:0002643
4868	NPHS1	Renal insufficiency	HP:0000083
4868	NPHS1	Abnormal renal tubule morphology	HP:0000091
4868	NPHS1	Tubular atrophy	HP:0000092
4868	NPHS1	Proteinuria	HP:0000093
4868	NPHS1	Rapidly progressive	HP:0003678
4868	NPHS1	Recurrent infections	HP:0002719
4868	NPHS1	Elevated amniotic fluid alpha-fetoprotein	HP:0004639
4868	NPHS1	Glomerulosclerosis	HP:0000096
4868	NPHS1	Gastroesophageal reflux	HP:0002020
4868	NPHS1	Nephrotic syndrome	HP:0000100
4868	NPHS1	Pyloric stenosis	HP:0002021
4868	NPHS1	Congenital nephrotic syndrome	HP:0008677
4868	NPHS1	Growth delay	HP:0001510
4868	NPHS1	Small for gestational age	HP:0001518
4868	NPHS1	Diffuse mesangial sclerosis	HP:0001967
4868	NPHS1	Hypothyroidism	HP:0000821
4868	NPHS1	Delayed eruption of permanent teeth	HP:0000696
4868	NPHS1	Congenital onset	HP:0003577
4869	NPM1	Somatic mutation	HP:0001428
4869	NPM1	Autosomal dominant inheritance	HP:0000006
4869	NPM1	Acute myeloid leukemia	HP:0004808
119559	SFXN4	Skeletal muscle atrophy	HP:0003202
119559	SFXN4	Intrauterine growth retardation	HP:0001511
119559	SFXN4	Increased serum lactate	HP:0002151
119559	SFXN4	Autosomal recessive inheritance	HP:0000007
119559	SFXN4	Intellectual disability, mild	HP:0001256
119559	SFXN4	Generalized hypotonia	HP:0001290
119559	SFXN4	Delayed speech and language development	HP:0000750
119559	SFXN4	Variable expressivity	HP:0003828
119559	SFXN4	Macrocytic anemia	HP:0001972
119559	SFXN4	Lactic acidosis	HP:0003128
119559	SFXN4	Visual impairment	HP:0000505
119559	SFXN4	Tremor	HP:0001337
119559	SFXN4	Dysmetria	HP:0001310
267010	RNU12	Intention tremor	HP:0002080
267010	RNU12	Poor fine motor coordination	HP:0007010
267010	RNU12	Decreased liver function	HP:0001410
267010	RNU12	Febrile seizures	HP:0002373
267010	RNU12	Infantile axial hypotonia	HP:0009062
267010	RNU12	Cerebellar vermis atrophy	HP:0006855
267010	RNU12	Dysarthria	HP:0001260
267010	RNU12	Gait ataxia	HP:0002066
267010	RNU12	Delayed gross motor development	HP:0002194
267010	RNU12	Difficulty walking	HP:0002355
267010	RNU12	Frequent falls	HP:0002359
267010	RNU12	Cerebellar atrophy	HP:0001272
267010	RNU12	Broad-based gait	HP:0002136
267010	RNU12	Nystagmus	HP:0000639
4878	NPPA	Hyperpepsinogenemia I	HP:0003238
4878	NPPA	Cardiomyopathy	HP:0001638
4878	NPPA	Atrial standstill	HP:0025478
4878	NPPA	Autosomal dominant inheritance	HP:0000006
4878	NPPA	Autosomal recessive inheritance	HP:0000007
4878	NPPA	Dilatation of the ventricular cavity	HP:0006698
4878	NPPA	Palpitations	HP:0001962
4878	NPPA	Dyspnea	HP:0002094
4878	NPPA	Stroke	HP:0001297
4878	NPPA	Atrial fibrillation	HP:0005110
4878	NPPA	Scarring	HP:0100699
4878	NPPA	Atrial cardiomyopathy	HP:0200127
4878	NPPA	Atrial arrhythmia	HP:0001692
4878	NPPA	Bradycardia	HP:0001662
348938	NIPAL4	Ichthyosis	HP:0008064
348938	NIPAL4	Hyperkeratosis	HP:0000962
348938	NIPAL4	Epidermal acanthosis	HP:0025092
348938	NIPAL4	Chronic otitis media	HP:0000389
348938	NIPAL4	Hypohidrosis	HP:0000966
348938	NIPAL4	Lack of skin elasticity	HP:0100679
348938	NIPAL4	Sparse hair	HP:0008070
348938	NIPAL4	Autosomal recessive inheritance	HP:0000007
348938	NIPAL4	Sepsis	HP:0100806
348938	NIPAL4	Parakeratosis	HP:0001036
348938	NIPAL4	Ectropion	HP:0000656
348938	NIPAL4	Renal insufficiency	HP:0000083
348938	NIPAL4	Palmoplantar keratoderma	HP:0000982
348938	NIPAL4	Corneal erosion	HP:0200020
348938	NIPAL4	Gangrene	HP:0100758
348938	NIPAL4	Dehydration	HP:0001944
348938	NIPAL4	Pruritus	HP:0000989
348938	NIPAL4	Recurrent respiratory infections	HP:0002205
348938	NIPAL4	Abnormality of the helix	HP:0011039
348938	NIPAL4	Short stature	HP:0004322
348938	NIPAL4	Failure to thrive	HP:0001508
348938	NIPAL4	Abnormality of the dentition	HP:0000164
348938	NIPAL4	Everted lower lip vermilion	HP:0000232
348938	NIPAL4	Aplasia/Hypoplasia of the eyebrow	HP:0100840
348938	NIPAL4	Keratitis	HP:0000491
348938	NIPAL4	Hearing impairment	HP:0000365
348938	NIPAL4	Hypotrichosis	HP:0001006
348938	NIPAL4	Congenital nonbullous ichthyosiform erythroderma	HP:0007479
348938	NIPAL4	Erythroderma	HP:0001019
348938	NIPAL4	Alopecia	HP:0001596
348938	NIPAL4	Abnormality of the nail	HP:0001597
348938	NIPAL4	Dry skin	HP:0000958
348938	NIPAL4	Cognitive impairment	HP:0100543
4882	NPR2	Short metacarpal	HP:0010049
4882	NPR2	Brachydactyly	HP:0001156
4882	NPR2	Autosomal dominant inheritance	HP:0000006
4882	NPR2	Broad hallux	HP:0010055
4882	NPR2	Flared metaphysis	HP:0003015
4882	NPR2	Autosomal recessive inheritance	HP:0000007
4882	NPR2	Short nail	HP:0001799
4882	NPR2	Short phalanx of finger	HP:0009803
4882	NPR2	Dolichocephaly	HP:0000268
4882	NPR2	Arachnodactyly	HP:0001166
4882	NPR2	Acromesomelia	HP:0003086
4882	NPR2	Broad metacarpals	HP:0001230
4882	NPR2	Sprengel anomaly	HP:0000912
4882	NPR2	Finger clinodactyly	HP:0040019
4882	NPR2	Prominent forehead	HP:0011220
4882	NPR2	Bowing of the long bones	HP:0006487
4882	NPR2	Frontal bossing	HP:0002007
4882	NPR2	Beaking of vertebral bodies	HP:0004568
4882	NPR2	Lower thoracic kyphosis	HP:0004633
4882	NPR2	Scoliosis	HP:0002650
4882	NPR2	Redundant skin on fingers	HP:0007516
4882	NPR2	Broad finger	HP:0001500
4882	NPR2	Depressed nasal bridge	HP:0005280
4882	NPR2	Limited elbow extension	HP:0001377
4882	NPR2	Tall stature	HP:0000098
4882	NPR2	Ovoid vertebral bodies	HP:0003300
4882	NPR2	Thoracolumbar interpediculate narrowness	HP:0008484
4882	NPR2	Vertebral wedging	HP:0008422
4882	NPR2	Short toe	HP:0001831
4882	NPR2	Hypoplasia of the radius	HP:0002984
4882	NPR2	Osteopenia	HP:0000938
4882	NPR2	Disproportionate short stature	HP:0003498
4882	NPR2	Radial bowing	HP:0002986
4882	NPR2	Joint stiffness	HP:0001387
4882	NPR2	Hyperlordosis	HP:0003307
4882	NPR2	Joint laxity	HP:0001388
4882	NPR2	Thoracolumbar kyphosis	HP:0005619
4882	NPR2	Proportionate short stature	HP:0003508
4882	NPR2	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
4882	NPR2	Long hallux	HP:0001847
4882	NPR2	Broad metatarsal	HP:0001783
4882	NPR2	Short metatarsal	HP:0010743
4882	NPR2	Kyphosis	HP:0002808
4882	NPR2	Broad phalanx	HP:0006009
4882	NPR2	Lumbar hyperlordosis	HP:0002938
4882	NPR2	Joint hyperflexibility	HP:0005692
4882	NPR2	Short nose	HP:0003196
4882	NPR2	Delayed skeletal maturation	HP:0002750
4891	SLC11A2	Abnormality of the liver	HP:0001392
4891	SLC11A2	Abnormality of metabolism/homeostasis	HP:0001939
4891	SLC11A2	Hypochromia	HP:0032231
4891	SLC11A2	Autosomal recessive inheritance	HP:0000007
4891	SLC11A2	Decreased mean corpuscular volume	HP:0025066
4893	NRAS	Macrocephaly	HP:0000256
4893	NRAS	Pectus carinatum	HP:0000768
4893	NRAS	Genu recurvatum	HP:0002816
4893	NRAS	Hemangioma	HP:0001028
4893	NRAS	Autosomal dominant inheritance	HP:0000006
4893	NRAS	Non-medullary thyroid carcinoma	HP:0040198
4893	NRAS	Prominence of the premaxilla	HP:0010759
4893	NRAS	Proptosis	HP:0000520
4893	NRAS	Generalized hypotonia	HP:0001290
4893	NRAS	Cranial asymmetry	HP:0000267
4893	NRAS	Overgrowth	HP:0001548
4893	NRAS	Prominent occiput	HP:0000269
4893	NRAS	Enlarged thorax	HP:0100625
4893	NRAS	Asymmetry of the thorax	HP:0001555
4893	NRAS	Corneal opacity	HP:0007957
4893	NRAS	Monocytosis	HP:0012311
4893	NRAS	Cutaneous melanoma	HP:0012056
4893	NRAS	Midface retrusion	HP:0011800
4893	NRAS	Cavernous hemangioma	HP:0001048
4893	NRAS	Dandy-Walker malformation	HP:0001305
4893	NRAS	Cryptorchidism	HP:0000028
4893	NRAS	Hypopigmented skin patches	HP:0001053
4893	NRAS	Epicanthus	HP:0000286
4893	NRAS	Numerous nevi	HP:0001054
4893	NRAS	Myopia	HP:0000545
4893	NRAS	Reduced tendon reflexes	HP:0001315
4893	NRAS	Full cheeks	HP:0000293
4893	NRAS	Hyperphosphaturia	HP:0003109
4893	NRAS	Hemimegalencephaly	HP:0007206
4893	NRAS	Meningioma	HP:0002858
4893	NRAS	Rhabdomyosarcoma	HP:0002859
4893	NRAS	Hypogonadotrophic hypogonadism	HP:0000044
4893	NRAS	Muscle weakness	HP:0001324
4893	NRAS	Melanoma	HP:0002861
4893	NRAS	Hypophosphatemic rickets	HP:0004912
4893	NRAS	EEG abnormality	HP:0002353
4893	NRAS	Abnormal dermatoglyphics	HP:0007477
4893	NRAS	Round face	HP:0000311
4893	NRAS	Microphthalmia	HP:0000568
4893	NRAS	Precocious puberty	HP:0000826
4893	NRAS	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
4893	NRAS	Hypertelorism	HP:0000316
4893	NRAS	Joint hyperflexibility	HP:0005692
4893	NRAS	Alopecia	HP:0001596
4893	NRAS	Pulmonary artery stenosis	HP:0004415
4893	NRAS	Nevus sebaceous	HP:0010815
4893	NRAS	Linear nevus sebaceous	HP:0010817
4893	NRAS	Abnormality of dental color	HP:0011073
4893	NRAS	Hyperreflexia	HP:0001347
4893	NRAS	Syringomyelia	HP:0003396
4893	NRAS	Facial asymmetry	HP:0000324
4893	NRAS	Triangular face	HP:0000325
4893	NRAS	Biparietal narrowing	HP:0004422
4893	NRAS	Uterine leiomyosarcoma	HP:0002891
4893	NRAS	Follicular thyroid carcinoma	HP:0006731
4893	NRAS	Plagiocephaly	HP:0001357
4893	NRAS	Coloboma	HP:0000589
4893	NRAS	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
4893	NRAS	Broad forehead	HP:0000337
4893	NRAS	Abnormality of dental morphology	HP:0006482
4893	NRAS	Neutropenia	HP:0001875
4893	NRAS	Transitional cell carcinoma of the bladder	HP:0006740
4893	NRAS	Pancytopenia	HP:0001876
4893	NRAS	Porencephalic cyst	HP:0002132
4893	NRAS	Choroid plexus papilloma	HP:0200022
4893	NRAS	Horseshoe kidney	HP:0000085
4893	NRAS	Hemolytic anemia	HP:0001878
4893	NRAS	Long philtrum	HP:0000343
4893	NRAS	Scoliosis	HP:0002650
4893	NRAS	Ophthalmoplegia	HP:0000602
4893	NRAS	Micrognathia	HP:0000347
4893	NRAS	High forehead	HP:0000348
4893	NRAS	Abnormal platelet function	HP:0011869
4893	NRAS	Vertebral segmentation defect	HP:0003422
4893	NRAS	Arachnoid cyst	HP:0100702
4893	NRAS	Neoplasm of the stomach	HP:0006753
4893	NRAS	Abnormal hair quantity	HP:0011362
4893	NRAS	Abnormal bleeding	HP:0001892
4893	NRAS	Iris coloboma	HP:0000612
4893	NRAS	Hypertrophic cardiomyopathy	HP:0001639
4893	NRAS	Abnormal pulmonary valve morphology	HP:0001641
4893	NRAS	Lymphoma	HP:0002665
4893	NRAS	Pulmonic stenosis	HP:0001642
4893	NRAS	Basal cell carcinoma	HP:0002671
4893	NRAS	Low-set, posteriorly rotated ears	HP:0000368
4893	NRAS	Low-set ears	HP:0000369
4893	NRAS	Clinodactyly of the 5th finger	HP:0004209
4893	NRAS	Low posterior hairline	HP:0002162
4893	NRAS	Periorbital fullness	HP:0000629
4893	NRAS	Aplasia of the semicircular canal	HP:0011381
4893	NRAS	Leukemia	HP:0001909
4893	NRAS	Short nose	HP:0003196
4893	NRAS	Nystagmus	HP:0000639
4893	NRAS	Ichthyosis	HP:0008064
4893	NRAS	Brachydactyly	HP:0001156
4893	NRAS	Sparse hair	HP:0008070
4893	NRAS	Thickened helices	HP:0000391
4893	NRAS	Abnormality of coagulation	HP:0001928
4893	NRAS	Abnormality of finger	HP:0001167
4893	NRAS	Coarctation of aorta	HP:0001680
4893	NRAS	Lymphoproliferative disorder	HP:0005523
4893	NRAS	Abnormality of metabolism/homeostasis	HP:0001939
4893	NRAS	Somatic mutation	HP:0001428
4893	NRAS	Sensorineural hearing impairment	HP:0000407
4893	NRAS	Keratosis pilaris	HP:0032152
4893	NRAS	Arrhythmia	HP:0011675
4893	NRAS	Recurrent respiratory infections	HP:0002205
4893	NRAS	Radioulnar synostosis	HP:0002974
4893	NRAS	Depressed nasal bridge	HP:0005280
4893	NRAS	Coarse hair	HP:0002208
4893	NRAS	Sporadic	HP:0003745
4893	NRAS	Narrow nasal ridge	HP:0000418
4893	NRAS	Somatic mosaicism	HP:0001442
4893	NRAS	Curly hair	HP:0002212
4893	NRAS	Feeding difficulties in infancy	HP:0008872
4893	NRAS	Cranial nerve paralysis	HP:0006824
4893	NRAS	Follicular hyperplasia	HP:0002729
4893	NRAS	Osteopenia	HP:0000938
4893	NRAS	Long eyebrows	HP:0004523
4893	NRAS	Decreased lymphocyte apoptosis	HP:0002731
4893	NRAS	Wide nasal bridge	HP:0000431
4893	NRAS	Thick lower lip vermilion	HP:0000179
4893	NRAS	Autoimmune thrombocytopenia	HP:0001973
4893	NRAS	Generalized hirsutism	HP:0002230
4893	NRAS	Cafe-au-lait spot	HP:0000957
4893	NRAS	Delayed skeletal maturation	HP:0002750
4893	NRAS	Kyphoscoliosis	HP:0002751
4893	NRAS	Hepatomegaly	HP:0002240
4893	NRAS	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4893	NRAS	Open mouth	HP:0000194
4893	NRAS	Hyperkeratosis	HP:0000962
4893	NRAS	Recurrent fractures	HP:0002757
4893	NRAS	Broad nasal tip	HP:0000455
4893	NRAS	Edema	HP:0000969
4893	NRAS	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
4893	NRAS	Asymmetric growth	HP:0100555
4893	NRAS	Subcutaneous nodule	HP:0001482
4893	NRAS	Increased antibody level in blood	HP:0010702
4893	NRAS	Abnormality of the spleen	HP:0001743
4893	NRAS	Renal cell carcinoma	HP:0005584
4893	NRAS	Splenomegaly	HP:0001744
4893	NRAS	Webbed neck	HP:0000465
4893	NRAS	Deep philtrum	HP:0002002
4893	NRAS	Wide intermamillary distance	HP:0006610
4893	NRAS	Cerebral calcification	HP:0002514
4893	NRAS	Prominent forehead	HP:0011220
4893	NRAS	Frontal bossing	HP:0002007
4893	NRAS	Thickened nuchal skin fold	HP:0000474
4893	NRAS	High palate	HP:0000218
4893	NRAS	Lymphocytosis	HP:0100827
4893	NRAS	Cystic hygroma	HP:0000476
4893	NRAS	Pruritus	HP:0000989
4893	NRAS	Congenital giant melanocytic nevus	HP:0005600
4893	NRAS	Intellectual disability	HP:0001249
4893	NRAS	Short stature	HP:0004322
4893	NRAS	Seizures	HP:0001250
4893	NRAS	Melanocytic nevus	HP:0000995
4893	NRAS	Numerous congenital melanocytic nevi	HP:0005603
4893	NRAS	Muscular hypotonia	HP:0001252
4893	NRAS	Strabismus	HP:0000486
4893	NRAS	Growth delay	HP:0001510
4893	NRAS	Everted lower lip vermilion	HP:0000232
4893	NRAS	Intellectual disability, mild	HP:0001256
4893	NRAS	Irregular hyperpigmentation	HP:0007400
4893	NRAS	Dysarthria	HP:0001260
4893	NRAS	Lymphedema	HP:0001004
4893	NRAS	Downslanted palpebral fissures	HP:0000494
4893	NRAS	Delayed speech and language development	HP:0000750
4893	NRAS	Hydrocephalus	HP:0000238
4893	NRAS	Global developmental delay	HP:0001263
4893	NRAS	Death in infancy	HP:0001522
4893	NRAS	Hypopigmentation of the skin	HP:0001010
4893	NRAS	Mental deterioration	HP:0001268
4893	NRAS	Abnormality of toe	HP:0001780
4893	NRAS	Motor delay	HP:0001270
4893	NRAS	Abnormality of vision	HP:0000504
4893	NRAS	Adenoma sebaceum	HP:0009720
4893	NRAS	Hemihypertrophy	HP:0001528
4893	NRAS	Congenital onset	HP:0003577
4893	NRAS	Telecanthus	HP:0000506
4893	NRAS	Ptosis	HP:0000508
4893	NRAS	Pectus excavatum	HP:0000767
283417	DPY19L2	Autosomal recessive inheritance	HP:0000007
283417	DPY19L2	Globozoospermia	HP:0012205
4901	NRL	Abnormal electroretinogram	HP:0000512
4901	NRL	Hyperreflexia	HP:0001347
4901	NRL	Cataract	HP:0000518
4901	NRL	Autosomal dominant inheritance	HP:0000006
4901	NRL	Hypogonadism	HP:0000135
4901	NRL	Optic atrophy	HP:0000648
4901	NRL	Hyperinsulinemia	HP:0000842
4901	NRL	Peripapillary chorioretinal atrophy	HP:0007950
4901	NRL	Anteverted nares	HP:0000463
4901	NRL	Pallor	HP:0000980
4901	NRL	Conductive hearing impairment	HP:0000405
4901	NRL	Nyctalopia	HP:0000662
4901	NRL	Sensorineural hearing impairment	HP:0000407
4901	NRL	Abnormality of retinal pigmentation	HP:0007703
4901	NRL	Ophthalmoplegia	HP:0000602
4901	NRL	Type II diabetes mellitus	HP:0005978
4901	NRL	Atypical scarring of skin	HP:0000987
4901	NRL	Hypoplasia of penis	HP:0008736
4901	NRL	Intellectual disability	HP:0001249
4901	NRL	Abnormal testis morphology	HP:0000035
4901	NRL	Photophobia	HP:0000613
4901	NRL	Undetectable electroretinogram	HP:0000550
4901	NRL	Obesity	HP:0001513
4901	NRL	Macular atrophy	HP:0007401
4901	NRL	Blindness	HP:0000618
4901	NRL	Abnormal retinal vascular morphology	HP:0008046
4901	NRL	Wide nasal bridge	HP:0000431
4901	NRL	Macular edema	HP:0040049
4901	NRL	Keratoconus	HP:0000563
4901	NRL	Glaucoma	HP:0000501
4901	NRL	Visual impairment	HP:0000505
4901	NRL	Progressive night blindness	HP:0007675
4901	NRL	Rod-cone dystrophy	HP:0000510
4901	NRL	Nystagmus	HP:0000639
4902	NRTN	Weight loss	HP:0001824
4902	NRTN	Intellectual disability	HP:0001249
4902	NRTN	Nausea and vomiting	HP:0002017
4902	NRTN	Short stature	HP:0004322
4902	NRTN	Constipation	HP:0002019
4902	NRTN	Sepsis	HP:0100806
4902	NRTN	Abdominal pain	HP:0002027
4902	NRTN	Aganglionic megacolon	HP:0002251
4902	NRTN	Intestinal polyposis	HP:0200008
4902	NRTN	Sensorineural hearing impairment	HP:0000407
4902	NRTN	Failure to thrive in infancy	HP:0001531
4902	NRTN	Adducted thumb	HP:0001181
4902	NRTN	Diarrhea	HP:0002014
4902	NRTN	Intestinal obstruction	HP:0005214
4902	NRTN	Neoplasm of the thyroid gland	HP:0100031
144165	PRICKLE1	Cutaneous photosensitivity	HP:0000992
144165	PRICKLE1	Intention tremor	HP:0002080
144165	PRICKLE1	Intellectual disability	HP:0001249
144165	PRICKLE1	Atonic seizures	HP:0010819
144165	PRICKLE1	Autosomal recessive inheritance	HP:0000007
144165	PRICKLE1	Generalized myoclonic seizures	HP:0002123
144165	PRICKLE1	Dysarthria	HP:0001260
144165	PRICKLE1	Dementia	HP:0000726
144165	PRICKLE1	Limb ataxia	HP:0002070
144165	PRICKLE1	EEG with polyspike wave complexes	HP:0002392
144165	PRICKLE1	Morning myoclonic jerks	HP:0007000
144165	PRICKLE1	Tremor	HP:0001337
144165	PRICKLE1	Progressive	HP:0003676
144165	PRICKLE1	Sensory axonal neuropathy	HP:0003390
144165	PRICKLE1	Dysmetria	HP:0001310
144165	PRICKLE1	Babinski sign	HP:0003487
4907	NT5E	Ectopic ossification	HP:0011986
4907	NT5E	Periarticular calcification	HP:0025477
4907	NT5E	Decreased serum creatinine	HP:0012101
4907	NT5E	Coronary artery calcification	HP:0001717
4907	NT5E	Autosomal recessive inheritance	HP:0000007
4907	NT5E	Arterial calcification	HP:0003207
4907	NT5E	Abnormal joint morphology	HP:0001367
4907	NT5E	Arterial tortuosity	HP:0005116
4907	NT5E	Arterial occlusion	HP:0025324
4907	NT5E	Abnormality of the vertebral column	HP:0000925
4909	NTF4	Open angle glaucoma	HP:0012108
348980	HCN1	Feeding difficulties	HP:0011968
348980	HCN1	Behavioral abnormality	HP:0000708
348980	HCN1	Febrile seizures	HP:0002373
348980	HCN1	Epileptic encephalopathy	HP:0200134
348980	HCN1	Autosomal dominant inheritance	HP:0000006
348980	HCN1	Optic atrophy	HP:0000648
348980	HCN1	Developmental regression	HP:0002376
348980	HCN1	Generalized hypotonia	HP:0001290
348980	HCN1	Cerebral atrophy	HP:0002059
348980	HCN1	Limb hypertonia	HP:0002509
348980	HCN1	Autism	HP:0000717
348980	HCN1	Unsteady gait	HP:0002317
348980	HCN1	Rigidity	HP:0002063
348980	HCN1	Encephalopathy	HP:0001298
348980	HCN1	Status epilepticus	HP:0002133
348980	HCN1	Decreased fetal movement	HP:0001558
348980	HCN1	Hypsarrhythmia	HP:0002521
348980	HCN1	High forehead	HP:0000348
348980	HCN1	EEG with multifocal slow activity	HP:0010844
348980	HCN1	Hypodontia	HP:0000668
348980	HCN1	Abnormal myelination	HP:0012447
348980	HCN1	Intellectual disability	HP:0001249
348980	HCN1	Short stature	HP:0004322
348980	HCN1	Retinal degeneration	HP:0000546
348980	HCN1	Ataxia	HP:0001251
348980	HCN1	Gastroesophageal reflux	HP:0002020
348980	HCN1	Failure to thrive	HP:0001508
348980	HCN1	Impulsivity	HP:0100710
348980	HCN1	Spasticity	HP:0001257
348980	HCN1	Attention deficit hyperactivity disorder	HP:0007018
348980	HCN1	Downslanted palpebral fissures	HP:0000494
348980	HCN1	Delayed speech and language development	HP:0000750
348980	HCN1	Global developmental delay	HP:0001263
348980	HCN1	Hyporeflexia	HP:0001265
348980	HCN1	Difficulty walking	HP:0002355
348980	HCN1	Mental deterioration	HP:0001268
348980	HCN1	Poor head control	HP:0002421
348980	HCN1	Dyskinesia	HP:0100660
348980	HCN1	Myoclonus	HP:0001336
348980	HCN1	Abnormality of vision	HP:0000504
348980	HCN1	Tremor	HP:0001337
348980	HCN1	Abnormal corpus callosum morphology	HP:0001273
348980	HCN1	Microcephaly	HP:0000252
348980	HCN1	Ptosis	HP:0000508
348980	HCN1	Nystagmus	HP:0000639
4913	NTHL1	Neoplasm of the skin	HP:0008069
4913	NTHL1	Pancreatic adenocarcinoma	HP:0006725
4913	NTHL1	Neoplasm of the rectum	HP:0100743
4913	NTHL1	Autosomal recessive inheritance	HP:0000007
4913	NTHL1	Meningioma	HP:0002858
4913	NTHL1	Ovarian cyst	HP:0000138
4913	NTHL1	Adenomatous colonic polyposis	HP:0005227
4913	NTHL1	Squamous cell carcinoma	HP:0002860
4913	NTHL1	Basal cell carcinoma	HP:0002671
4913	NTHL1	Endometrial carcinoma	HP:0012114
4913	NTHL1	Duodenal adenocarcinoma	HP:0006771
4913	NTHL1	Seborrheic keratosis	HP:0031287
4913	NTHL1	Breast carcinoma	HP:0003002
4913	NTHL1	Colon cancer	HP:0003003
4913	NTHL1	Non-Hodgkin lymphoma	HP:0012539
4913	NTHL1	Bladder neoplasm	HP:0009725
283446	MYO1H	Seizures	HP:0001250
283446	MYO1H	Muscular hypotonia	HP:0001252
283446	MYO1H	Ganglioneuroblastoma	HP:0006747
283446	MYO1H	Aganglionic megacolon	HP:0002251
283446	MYO1H	Ganglioneuroma	HP:0003005
283446	MYO1H	Respiratory insufficiency	HP:0002093
283446	MYO1H	Cognitive impairment	HP:0100543
4914	NTRK1	Abnormality of dental color	HP:0011073
4914	NTRK1	Osteomyelitis	HP:0002754
4914	NTRK1	Corneal ulceration	HP:0012804
4914	NTRK1	Neuropathic arthropathy	HP:0002821
4914	NTRK1	Autosomal dominant inheritance	HP:0000006
4914	NTRK1	Lack of skin elasticity	HP:0100679
4914	NTRK1	Autosomal recessive inheritance	HP:0000007
4914	NTRK1	Emotional lability	HP:0000712
4914	NTRK1	Infantile onset	HP:0003593
4914	NTRK1	Anhidrosis	HP:0000970
4914	NTRK1	Impaired temperature sensation	HP:0010829
4914	NTRK1	Opacification of the corneal stroma	HP:0007759
4914	NTRK1	Malar flattening	HP:0000272
4914	NTRK1	Decreased number of small peripheral myelinated nerve fibers	HP:0007249
4914	NTRK1	Nail dystrophy	HP:0008404
4914	NTRK1	Impaired pain sensation	HP:0007328
4914	NTRK1	Intellectual disability	HP:0001249
4914	NTRK1	Irritability	HP:0000737
4914	NTRK1	Poor wound healing	HP:0001058
4914	NTRK1	Recurrent fever	HP:0001954
4914	NTRK1	Autoamputation of digits	HP:0007460
4914	NTRK1	Abnormality of the dentition	HP:0000164
4914	NTRK1	Painless fractures due to injury	HP:0002661
4914	NTRK1	Self-mutilation	HP:0000742
4914	NTRK1	Intellectual disability, mild	HP:0001256
4914	NTRK1	Abnormality of the gingiva	HP:0000168
4914	NTRK1	Acral ulceration	HP:0006121
4914	NTRK1	Skin ulcer	HP:0200042
4914	NTRK1	Deeply set eye	HP:0000490
4914	NTRK1	Keratitis	HP:0000491
4914	NTRK1	Pain insensitivity	HP:0007021
4914	NTRK1	Self-injurious behavior	HP:0100716
4914	NTRK1	Hypotrichosis of the scalp	HP:0004782
4914	NTRK1	Corneal scarring	HP:0000559
4914	NTRK1	Global developmental delay	HP:0001263
4914	NTRK1	Recurrent corneal erosions	HP:0000495
4914	NTRK1	Hyperactivity	HP:0000752
4914	NTRK1	Thickened skin	HP:0001072
4914	NTRK1	Medullary thyroid carcinoma	HP:0002865
4914	NTRK1	Nail dysplasia	HP:0002164
4914	NTRK1	Lichenification	HP:0100725
4914	NTRK1	Postural hypotension with compensatory tachycardia	HP:0005307
4915	NTRK2	Autosomal dominant inheritance	HP:0000006
4915	NTRK2	Optic atrophy	HP:0000648
4915	NTRK2	Generalized hypotonia	HP:0001290
4915	NTRK2	Cerebral atrophy	HP:0002059
4915	NTRK2	Unsteady gait	HP:0002317
4915	NTRK2	Rigidity	HP:0002063
4915	NTRK2	Encephalopathy	HP:0001298
4915	NTRK2	Decreased fetal movement	HP:0001558
4915	NTRK2	Hypodontia	HP:0000668
4915	NTRK2	Abnormal myelination	HP:0012447
4915	NTRK2	Polyphagia	HP:0002591
4915	NTRK2	Delayed myelination	HP:0012448
4915	NTRK2	Retinal degeneration	HP:0000546
4915	NTRK2	Difficulty walking	HP:0002355
4915	NTRK2	Dyskinesia	HP:0100660
4915	NTRK2	Infantile spasms	HP:0012469
4915	NTRK2	Myoclonus	HP:0001336
4915	NTRK2	Tremor	HP:0001337
4915	NTRK2	Feeding difficulties	HP:0011968
4915	NTRK2	Absent speech	HP:0001344
4915	NTRK2	Hyperreflexia	HP:0001347
4915	NTRK2	Facial asymmetry	HP:0000324
4915	NTRK2	Epileptic encephalopathy	HP:0200134
4915	NTRK2	Developmental regression	HP:0002376
4915	NTRK2	Limb hypertonia	HP:0002509
4915	NTRK2	Autism	HP:0000717
4915	NTRK2	Severe global developmental delay	HP:0011344
4915	NTRK2	Status epilepticus	HP:0002133
4915	NTRK2	Hypsarrhythmia	HP:0002521
4915	NTRK2	Autistic behavior	HP:0000729
4915	NTRK2	High forehead	HP:0000348
4915	NTRK2	EEG with multifocal slow activity	HP:0010844
4915	NTRK2	Stereotypy	HP:0000733
4915	NTRK2	Intellectual disability	HP:0001249
4915	NTRK2	Short stature	HP:0004322
4915	NTRK2	Seizures	HP:0001250
4915	NTRK2	Ataxia	HP:0001251
4915	NTRK2	Gastroesophageal reflux	HP:0002020
4915	NTRK2	Failure to thrive	HP:0001508
4915	NTRK2	Impulsivity	HP:0100710
4915	NTRK2	Spasticity	HP:0001257
4915	NTRK2	Obesity	HP:0001513
4915	NTRK2	Attention deficit hyperactivity disorder	HP:0007018
4915	NTRK2	Inability to walk	HP:0002540
4915	NTRK2	Downslanted palpebral fissures	HP:0000494
4915	NTRK2	Delayed speech and language development	HP:0000750
4915	NTRK2	Global developmental delay	HP:0001263
4915	NTRK2	Spastic diplegia	HP:0001264
4915	NTRK2	Intellectual disability, severe	HP:0010864
4915	NTRK2	Hyporeflexia	HP:0001265
4915	NTRK2	Abnormality of skin morphology	HP:0011121
4915	NTRK2	Mental deterioration	HP:0001268
4915	NTRK2	Poor head control	HP:0002421
4915	NTRK2	Abnormality of vision	HP:0000504
4915	NTRK2	Abnormal corpus callosum morphology	HP:0001273
4915	NTRK2	Visual impairment	HP:0000505
4915	NTRK2	Microcephaly	HP:0000252
4915	NTRK2	Ptosis	HP:0000508
4915	NTRK2	Nystagmus	HP:0000639
4919	ROR1	Autosomal recessive inheritance	HP:0000007
4919	ROR1	Infantile onset	HP:0003593
4920	ROR2	Macrocephaly	HP:0000256
4920	ROR2	Pectus carinatum	HP:0000768
4920	ROR2	Joint contracture of the hand	HP:0009473
4920	ROR2	Umbilical hernia	HP:0001537
4920	ROR2	Multicystic kidney dysplasia	HP:0000003
4920	ROR2	Wide anterior fontanel	HP:0000260
4920	ROR2	Anonychia	HP:0001798
4920	ROR2	Autosomal dominant inheritance	HP:0000006
4920	ROR2	Autosomal recessive inheritance	HP:0000007
4920	ROR2	Proptosis	HP:0000520
4920	ROR2	Hypoplastic fingernail	HP:0001804
4920	ROR2	Delayed cranial suture closure	HP:0000270
4920	ROR2	Long eyelashes	HP:0000527
4920	ROR2	Hypoplastic female external genitalia	HP:0012815
4920	ROR2	Malar flattening	HP:0000272
4920	ROR2	Thoracic hemivertebrae	HP:0008467
4920	ROR2	Retrognathia	HP:0000278
4920	ROR2	Inguinal hernia	HP:0000023
4920	ROR2	Midface retrusion	HP:0011800
4920	ROR2	Absent fingernail	HP:0001817
4920	ROR2	Aplasia/Hypoplasia involving the metacarpal bones	HP:0005914
4920	ROR2	Cryptorchidism	HP:0000028
4920	ROR2	Nevus flammeus	HP:0001052
4920	ROR2	Epicanthus	HP:0000286
4920	ROR2	Hypoplasia of penis	HP:0008736
4920	ROR2	Broad thumb	HP:0011304
4920	ROR2	Broad toe	HP:0001837
4920	ROR2	Ectopic anus	HP:0004397
4920	ROR2	Symphalangism affecting the phalanges of the hand	HP:0009773
4920	ROR2	Absent uvula	HP:0010292
4920	ROR2	Tented upper lip vermilion	HP:0010804
4920	ROR2	Micropenis	HP:0000054
4920	ROR2	Open bite	HP:0010807
4920	ROR2	Ankyloglossia	HP:0010296
4920	ROR2	Bifid tongue	HP:0010297
4920	ROR2	Cutaneous finger syndactyly	HP:0010554
4920	ROR2	Hypoplastic labia majora	HP:0000059
4920	ROR2	Clitoral hypoplasia	HP:0000060
4920	ROR2	Hypertelorism	HP:0000316
4920	ROR2	Alopecia	HP:0001596
4920	ROR2	Sandal gap	HP:0001852
4920	ROR2	Bifid distal phalanx of toe	HP:0001853
4920	ROR2	Increased number of teeth	HP:0011069
4920	ROR2	Short metacarpal	HP:0010049
4920	ROR2	Short philtrum	HP:0000322
4920	ROR2	Upslanted palpebral fissure	HP:0000582
4920	ROR2	Renal duplication	HP:0000075
4920	ROR2	Broad hallux phalanx	HP:0010059
4920	ROR2	Flat face	HP:0012368
4920	ROR2	Blue sclerae	HP:0000592
4920	ROR2	Long philtrum	HP:0000343
4920	ROR2	Scoliosis	HP:0002650
4920	ROR2	Micrognathia	HP:0000347
4920	ROR2	Ventricular septal defect	HP:0001629
4920	ROR2	Vertebral segmentation defect	HP:0003422
4920	ROR2	Atrial septal defect	HP:0001631
4920	ROR2	Camptodactyly	HP:0012385
4920	ROR2	Tetralogy of Fallot	HP:0001636
4920	ROR2	Posteriorly rotated ears	HP:0000358
4920	ROR2	Abnormal pulmonary valve morphology	HP:0001641
4920	ROR2	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0009835
4920	ROR2	Hearing impairment	HP:0000365
4920	ROR2	Low-set, posteriorly rotated ears	HP:0000368
4920	ROR2	Low-set ears	HP:0000369
4920	ROR2	Clinodactyly of the 5th finger	HP:0004209
4920	ROR2	Small hand	HP:0200055
4920	ROR2	Nail dysplasia	HP:0002164
4920	ROR2	Hemivertebrae	HP:0002937
4920	ROR2	Short nose	HP:0003196
4920	ROR2	Short middle phalanx of the 5th finger	HP:0004220
4920	ROR2	Long palpebral fissure	HP:0000637
4920	ROR2	Hydronephrosis	HP:0000126
4920	ROR2	Thoracolumbar scoliosis	HP:0002944
4920	ROR2	Vertebral fusion	HP:0002948
4920	ROR2	Brachydactyly	HP:0001156
4920	ROR2	Clinodactyly	HP:0030084
4920	ROR2	Chronic otitis media	HP:0000389
4920	ROR2	Rib fusion	HP:0000902
4920	ROR2	Syndactyly	HP:0001159
4920	ROR2	Camptodactyly of finger	HP:0100490
4920	ROR2	Abnormal aortic morphology	HP:0001679
4920	ROR2	Split hand	HP:0001171
4920	ROR2	2nd-5th toe middle phalangeal hypoplasia	HP:0008083
4920	ROR2	Missing ribs	HP:0000921
4920	ROR2	Downturned corners of mouth	HP:0002714
4920	ROR2	Short distal phalanx of finger	HP:0009882
4920	ROR2	Wide mouth	HP:0000154
4920	ROR2	Duplication of the distal phalanx of hand	HP:0009883
4920	ROR2	Hypodontia	HP:0000668
4920	ROR2	Recurrent respiratory infections	HP:0002205
4920	ROR2	Macroglossia	HP:0000158
4920	ROR2	Depressed nasal bridge	HP:0005280
4920	ROR2	Dental crowding	HP:0000678
4920	ROR2	Abnormal tricuspid valve morphology	HP:0001702
4920	ROR2	Right ventricular outlet tract obstruction	HP:0001705
4920	ROR2	Disproportionate short-limb short stature	HP:0008873
4920	ROR2	Abnormal palate morphology	HP:0000174
4920	ROR2	Bilateral single transverse palmar creases	HP:0007598
4920	ROR2	Wide nasal bridge	HP:0000431
4920	ROR2	Short palm	HP:0004279
4920	ROR2	Delayed eruption of permanent teeth	HP:0000696
4920	ROR2	Synostosis of carpal bones	HP:0005048
4920	ROR2	Short middle phalanx of finger	HP:0005819
4920	ROR2	Delayed skeletal maturation	HP:0002750
4920	ROR2	Fingernail dysplasia	HP:0100798
4920	ROR2	Sacral dimple	HP:0000960
4920	ROR2	Type B brachydactyly	HP:0005831
4920	ROR2	Abnormality of the hip bone	HP:0003272
4920	ROR2	Aplasia/Hypoplasia of the distal phalanges of the toes	HP:0010185
4920	ROR2	Oral cleft	HP:0000202
4920	ROR2	Anteverted nares	HP:0000463
4920	ROR2	Triangular mouth	HP:0000207
4920	ROR2	Short long bone	HP:0003026
4920	ROR2	Mesomelia	HP:0003027
4920	ROR2	Gingival overgrowth	HP:0000212
4920	ROR2	Finger syndactyly	HP:0006101
4920	ROR2	Short neck	HP:0000470
4920	ROR2	Frontal bossing	HP:0002007
4920	ROR2	Exaggerated cupid's bow	HP:0002263
4920	ROR2	Thin upper lip vermilion	HP:0000219
4920	ROR2	Intellectual disability	HP:0001249
4920	ROR2	Short stature	HP:0004322
4920	ROR2	Elbow dislocation	HP:0003042
4920	ROR2	Strabismus	HP:0000486
4920	ROR2	Toe syndactyly	HP:0001770
4920	ROR2	Short foot	HP:0001773
4920	ROR2	Hypoplastic sacrum	HP:0004590
4920	ROR2	Downslanted palpebral fissures	HP:0000494
4920	ROR2	Global developmental delay	HP:0001263
4920	ROR2	Death in infancy	HP:0001522
4920	ROR2	Kyphosis	HP:0002808
4920	ROR2	Radial deviation of finger	HP:0009466
4920	ROR2	Ptosis	HP:0000508
4920	ROR2	Pectus excavatum	HP:0000767
4921	DDR2	Spinal cord compression	HP:0002176
4921	DDR2	Recurrent pneumonia	HP:0006532
4921	DDR2	Short ribs	HP:0000773
4921	DDR2	Autosomal recessive inheritance	HP:0000007
4921	DDR2	Proptosis	HP:0000520
4921	DDR2	Thoracic hypoplasia	HP:0005257
4921	DDR2	Generalized hypotonia	HP:0001290
4921	DDR2	Anterior rib cupping	HP:0000907
4921	DDR2	Atlantoaxial instability	HP:0003467
4921	DDR2	Long fibula	HP:0003085
4921	DDR2	Malar flattening	HP:0000272
4921	DDR2	Triangular shaped distal phalanges of the hand	HP:0009875
4921	DDR2	Midface retrusion	HP:0011800
4921	DDR2	Posterior rib cupping	HP:0000922
4921	DDR2	Platyspondyly	HP:0000926
4921	DDR2	Epiphyseal stippling	HP:0010655
4921	DDR2	Depressed nasal bridge	HP:0005280
4921	DDR2	Bowing of the legs	HP:0002979
4921	DDR2	Micromelia	HP:0002983
4921	DDR2	Disproportionate short-limb short stature	HP:0008873
4921	DDR2	Restrictive ventilatory defect	HP:0002091
4921	DDR2	Elbow flexion contracture	HP:0002987
4921	DDR2	Metatarsus adductus	HP:0001840
4921	DDR2	Flared iliac wings	HP:0002869
4921	DDR2	Bell-shaped thorax	HP:0001591
4921	DDR2	Hypertelorism	HP:0000316
4921	DDR2	Short metacarpal	HP:0010049
4921	DDR2	Syringomyelia	HP:0003396
4921	DDR2	Flared metaphysis	HP:0003015
4921	DDR2	Progressive calcification of costochondral cartilage	HP:0006600
4921	DDR2	Short phalanx of finger	HP:0009803
4921	DDR2	Abnormal calcification of the carpal bones	HP:0009164
4921	DDR2	Broad metacarpals	HP:0001230
4921	DDR2	Abnormality of the neck	HP:0000464
4921	DDR2	Short long bone	HP:0003026
4921	DDR2	Calcification of falx cerebri	HP:0005462
4921	DDR2	Frontal bossing	HP:0002007
4921	DDR2	Scoliosis	HP:0002650
4921	DDR2	High palate	HP:0000218
4921	DDR2	Spondyloepimetaphyseal dysplasia	HP:0002651
4921	DDR2	Micrognathia	HP:0000347
4921	DDR2	Hip subluxation	HP:0030043
4921	DDR2	Tracheal calcification	HP:0002787
4921	DDR2	Knee flexion contracture	HP:0006380
4921	DDR2	Hypoplasia of the odontoid process	HP:0003311
4921	DDR2	Global developmental delay	HP:0001263
4921	DDR2	C1-C2 subluxation	HP:0003320
4921	DDR2	Broad phalanx	HP:0006009
4921	DDR2	Short nose	HP:0003196
4921	DDR2	Pectus excavatum	HP:0000767
4926	NUMA1	Acute promyelocytic leukemia	HP:0004836
4926	NUMA1	Somatic mutation	HP:0001428
4926	NUMA1	Abnormal granulocytopoietic cell morphology	HP:0012135
4929	NR4A2	Insidious onset	HP:0003587
4929	NR4A2	Urinary urgency	HP:0000012
4929	NR4A2	Depressivity	HP:0000716
4929	NR4A2	Rigidity	HP:0002063
4929	NR4A2	Short stepped shuffling gait	HP:0007311
4929	NR4A2	Resting tremor	HP:0002322
4929	NR4A2	Bradykinesia	HP:0002067
4929	NR4A2	Parkinsonism	HP:0001300
4929	NR4A2	Weak voice	HP:0001621
4929	NR4A2	Dementia	HP:0000726
4929	NR4A2	Lewy bodies	HP:0100315
4929	NR4A2	Progressive	HP:0003676
4929	NR4A2	Dysphagia	HP:0002015
4929	NR4A2	Sporadic	HP:0003745
4929	NR4A2	Neuronal loss in central nervous system	HP:0002529
4929	NR4A2	Hallucinations	HP:0000738
4929	NR4A2	Constipation	HP:0002019
4929	NR4A2	Micrographia	HP:0031908
4929	NR4A2	Mask-like facies	HP:0000298
4929	NR4A2	Dysarthria	HP:0001260
4929	NR4A2	Abnormal autonomic nervous system physiology	HP:0012332
4929	NR4A2	Personality changes	HP:0000751
4929	NR4A2	Dystonia	HP:0001332
4929	NR4A2	Sleep disturbance	HP:0002360
4929	NR4A2	Substantia nigra gliosis	HP:0011960
4929	NR4A2	Tremor	HP:0001337
4929	NR4A2	Postural instability	HP:0002172
54084	TSPEAR	Hypohidrosis	HP:0000966
54084	TSPEAR	Sensorineural hearing impairment	HP:0000407
54084	TSPEAR	Autosomal recessive inheritance	HP:0000007
54084	TSPEAR	Conical tooth	HP:0000698
54084	TSPEAR	Hypodontia	HP:0000668
4935	GPR143	Depigmented fundus	HP:0007680
4935	GPR143	Myopia	HP:0000545
4935	GPR143	Astigmatism	HP:0000483
4935	GPR143	Hyperopic astigmatism	HP:0000484
4935	GPR143	Photophobia	HP:0000613
4935	GPR143	Neoplasm of the skin	HP:0008069
4935	GPR143	Amblyopia	HP:0000646
4935	GPR143	Strabismus	HP:0000486
4935	GPR143	Hypoplasia of the fovea	HP:0007750
4935	GPR143	Abnormal pupil morphology	HP:0000615
4935	GPR143	Freckling	HP:0001480
4935	GPR143	X-linked inheritance	HP:0001417
4935	GPR143	Nystagmus-induced head nodding	HP:0001361
4935	GPR143	Ocular albinism	HP:0001107
4935	GPR143	Giant melanosomes in melanocytes	HP:0005592
4935	GPR143	Visual impairment	HP:0000505
4935	GPR143	Horizontal nystagmus	HP:0000666
4935	GPR143	Nystagmus	HP:0000639
4938	OAS1	Hypoxemia	HP:0012418
4938	OAS1	Foam cells	HP:0003651
4938	OAS1	Tachypnea	HP:0002789
4938	OAS1	Autoimmune antibody positivity	HP:0030057
4938	OAS1	Restrictive ventilatory defect	HP:0002091
4938	OAS1	Acute infectious pneumonia	HP:0011949
4938	OAS1	Crackles	HP:0030830
4938	OAS1	Crazy paving pattern on pulmonary HRCT	HP:0025391
4938	OAS1	Tachycardia	HP:0001649
4938	OAS1	Respiratory distress	HP:0002098
4938	OAS1	Elevated carcinoembryonic antigen level	HP:0031029
4938	OAS1	Respiratory failure requiring assisted ventilation	HP:0004887
4938	OAS1	Failure to thrive in infancy	HP:0001531
4938	OAS1	Cough	HP:0012735
4942	OAT	Myopia	HP:0000545
4942	OAT	EMG abnormality	HP:0003457
4942	OAT	Abnormality of metabolism/homeostasis	HP:0001939
4942	OAT	Chorioretinal atrophy	HP:0000533
4942	OAT	Proximal muscle weakness	HP:0003701
4942	OAT	Nyctalopia	HP:0000662
4942	OAT	Autosomal recessive inheritance	HP:0000007
4942	OAT	Blindness	HP:0000618
4942	OAT	Posterior subcapsular cataract	HP:0007787
4948	OCA2	Exotropia	HP:0000577
4948	OCA2	Myopia	HP:0000545
4948	OCA2	Photophobia	HP:0000613
4948	OCA2	Strabismus	HP:0000486
4948	OCA2	Hypoplasia of the fovea	HP:0007750
4948	OCA2	Autosomal recessive inheritance	HP:0000007
4948	OCA2	Freckling	HP:0001480
4948	OCA2	Abnormality of the optic nerve	HP:0000587
4948	OCA2	Melanoma	HP:0002861
4948	OCA2	Basal cell carcinoma	HP:0002671
4948	OCA2	Reduced visual acuity	HP:0007663
4948	OCA2	Iris hypopigmentation	HP:0007730
4948	OCA2	Squamous cell carcinoma of the skin	HP:0006739
4948	OCA2	Freckles in sun-exposed areas	HP:0007603
4948	OCA2	Hypopigmentation of the fundus	HP:0007894
4948	OCA2	Visual impairment	HP:0000505
4948	OCA2	Red hair	HP:0002297
4948	OCA2	Blue irides	HP:0000635
4948	OCA2	Albinism	HP:0001022
4948	OCA2	Nystagmus	HP:0000639
54101	RIPK4	Small nail	HP:0001792
54101	RIPK4	Anonychia	HP:0001798
54101	RIPK4	Autosomal recessive inheritance	HP:0000007
54101	RIPK4	Syndactyly	HP:0001159
54101	RIPK4	Hypoplastic toenails	HP:0001800
54101	RIPK4	Atelectasis	HP:0100750
54101	RIPK4	Synostosis of joints	HP:0100240
54101	RIPK4	Corneal opacity	HP:0007957
54101	RIPK4	Commissural lip pit	HP:0002710
54101	RIPK4	Ankyloblepharon	HP:0009755
54101	RIPK4	Popliteal pterygium	HP:0009756
54101	RIPK4	Depressed nasal bridge	HP:0005280
54101	RIPK4	Narrow mouth	HP:0000160
54101	RIPK4	Median cleft lip	HP:0000161
54101	RIPK4	Curly hair	HP:0002212
54101	RIPK4	Axillary pterygium	HP:0001060
54101	RIPK4	Sparse or absent eyelashes	HP:0200102
54101	RIPK4	Underdeveloped nasal alae	HP:0000430
54101	RIPK4	Cleft palate	HP:0000175
54101	RIPK4	Absent eyebrow	HP:0002223
54101	RIPK4	Absent thumb	HP:0009777
54101	RIPK4	Absent eyelashes	HP:0000561
54101	RIPK4	Hypoplastic male external genitalia	HP:0000050
54101	RIPK4	Microphthalmia	HP:0000568
54101	RIPK4	Bifid tongue	HP:0010297
54101	RIPK4	Imperforate hymen	HP:0030011
54101	RIPK4	Hypoplastic labia majora	HP:0000059
54101	RIPK4	Hypertelorism	HP:0000316
54101	RIPK4	Dry skin	HP:0000958
54101	RIPK4	Abnormal oral frenulum morphology	HP:0000190
54101	RIPK4	Ambiguous genitalia	HP:0000062
54101	RIPK4	Hypohidrosis	HP:0000966
54101	RIPK4	Hypoplasia of the maxilla	HP:0000327
54101	RIPK4	Hydroureter	HP:0000072
54101	RIPK4	Aplasia/Hypoplasia of the distal phalanges of the toes	HP:0010185
54101	RIPK4	Short phalanx of finger	HP:0009803
54101	RIPK4	Cleft upper lip	HP:0000204
54101	RIPK4	Agenesis of permanent teeth	HP:0006349
54101	RIPK4	Opacification of the corneal stroma	HP:0007759
54101	RIPK4	Wide intermamillary distance	HP:0006610
54101	RIPK4	Finger syndactyly	HP:0006101
54101	RIPK4	Facial cleft	HP:0002006
54101	RIPK4	Abnormality of cardiovascular system morphology	HP:0030680
54101	RIPK4	Talipes	HP:0001883
54101	RIPK4	Micrognathia	HP:0000347
54101	RIPK4	Short fifth metatarsal	HP:0004704
54101	RIPK4	Intellectual disability	HP:0001249
54101	RIPK4	Agenesis of maxillary incisor	HP:0200160
54101	RIPK4	Ataxia	HP:0001251
54101	RIPK4	Renal hypoplasia/aplasia	HP:0008678
54101	RIPK4	Intrauterine growth retardation	HP:0001511
54101	RIPK4	Aplasia/Hypoplasia of the eyebrow	HP:0100840
54101	RIPK4	Anal stenosis	HP:0002025
54101	RIPK4	Toe syndactyly	HP:0001770
54101	RIPK4	Eyelid coloboma	HP:0000625
54101	RIPK4	Bilateral cryptorchidism	HP:0008689
54101	RIPK4	Skin tags	HP:0010609
54101	RIPK4	Low-set ears	HP:0000369
54101	RIPK4	Hypoplastic scapulae	HP:0000882
54101	RIPK4	Nail dysplasia	HP:0002164
54101	RIPK4	Alopecia totalis	HP:0007418
54101	RIPK4	Cupped ear	HP:0000378
54101	RIPK4	Microcephaly	HP:0000252
54101	RIPK4	Short nose	HP:0003196
4952	OCRL	Proximal renal tubular acidosis	HP:0002049
4952	OCRL	Umbilical hernia	HP:0001537
4952	OCRL	Joint contracture of the hand	HP:0009473
4952	OCRL	Areflexia	HP:0001284
4952	OCRL	Abnormality of the ribs	HP:0000772
4952	OCRL	Odontogenic neoplasm	HP:0100612
4952	OCRL	Cataract	HP:0000518
4952	OCRL	Lentiglobus	HP:0011527
4952	OCRL	Developmental cataract	HP:0000519
4952	OCRL	Hip dislocation	HP:0002827
4952	OCRL	Dense posterior cortical cataract	HP:0007948
4952	OCRL	Nephrolithiasis	HP:0000787
4952	OCRL	Long face	HP:0000276
4952	OCRL	Corneal opacity	HP:0007957
4952	OCRL	Hematuria	HP:0000790
4952	OCRL	Inguinal hernia	HP:0000023
4952	OCRL	Azoospermia	HP:0000027
4952	OCRL	Aminoaciduria	HP:0003355
4952	OCRL	Cryptorchidism	HP:0000028
4952	OCRL	Elevated amniotic fluid alpha-fetoprotein	HP:0004639
4952	OCRL	Full cheeks	HP:0000293
4952	OCRL	Hyperphosphaturia	HP:0003109
4952	OCRL	Neonatal hypotonia	HP:0001319
4952	OCRL	Genu valgum	HP:0002857
4952	OCRL	Abnormality of epiphysis morphology	HP:0005930
4952	OCRL	Finger swelling	HP:0025131
4952	OCRL	Buphthalmos	HP:0000557
4952	OCRL	Respiratory insufficiency	HP:0002093
4952	OCRL	Mandibular prognathia	HP:0000303
4952	OCRL	EEG abnormality	HP:0002353
4952	OCRL	Chorioretinal dysplasia	HP:0007731
4952	OCRL	Hypercholesterolemia	HP:0003124
4952	OCRL	Dysphasia	HP:0002357
4952	OCRL	Low-molecular-weight proteinuria	HP:0003126
4952	OCRL	Open bite	HP:0010807
4952	OCRL	Delayed puberty	HP:0000823
4952	OCRL	Microphthalmia	HP:0000568
4952	OCRL	Joint hyperflexibility	HP:0005692
4952	OCRL	Bicarbonaturia	HP:0003646
4952	OCRL	Upslanted palpebral fissure	HP:0000582
4952	OCRL	Ventriculomegaly	HP:0002119
4952	OCRL	Abnormality of the voice	HP:0001608
4952	OCRL	Hyperparathyroidism	HP:0000843
4952	OCRL	Reduced number of teeth	HP:0009804
4952	OCRL	Elevated serum acid phosphatase	HP:0003148
4952	OCRL	Chronic kidney disease	HP:0012622
4952	OCRL	Thrombocytopenia	HP:0001873
4952	OCRL	Renal insufficiency	HP:0000083
4952	OCRL	Hypokalemia	HP:0002900
4952	OCRL	Hyponatremia	HP:0002902
4952	OCRL	Long philtrum	HP:0000343
4952	OCRL	Arthritis	HP:0001369
4952	OCRL	Generalized hypopigmentation	HP:0007513
4952	OCRL	Scoliosis	HP:0002650
4952	OCRL	Micrognathia	HP:0000347
4952	OCRL	Abnormal renal tubule morphology	HP:0000091
4952	OCRL	Hyperaldosteronism	HP:0000859
4952	OCRL	Flat occiput	HP:0005469
4952	OCRL	Proteinuria	HP:0000093
4952	OCRL	Elevated maternal serum alpha-fetoprotein	HP:0005984
4952	OCRL	Hypophosphatemia	HP:0002148
4952	OCRL	Hypercalciuria	HP:0002150
4952	OCRL	Joint hypermobility	HP:0001382
4952	OCRL	Increased serum lactate	HP:0002151
4952	OCRL	Abnormal pupil morphology	HP:0000615
4952	OCRL	Diabetes insipidus	HP:0000873
4952	OCRL	Skin ulcer	HP:0200042
4952	OCRL	Attention deficit hyperactivity disorder	HP:0007018
4952	OCRL	Joint swelling	HP:0001386
4952	OCRL	Joint stiffness	HP:0001387
4952	OCRL	Self-injurious behavior	HP:0100716
4952	OCRL	Anemia	HP:0001903
4952	OCRL	Low-set, posteriorly rotated ears	HP:0000368
4952	OCRL	Proximal tubulopathy	HP:0000114
4952	OCRL	Lacrimation abnormality	HP:0000632
4952	OCRL	Clonus	HP:0002169
4952	OCRL	Nephrocalcinosis	HP:0000121
4952	OCRL	Nystagmus	HP:0000639
4952	OCRL	Neoplasm of the skin	HP:0008069
4952	OCRL	Chronic otitis media	HP:0000389
4952	OCRL	Amblyopia	HP:0000646
4952	OCRL	X-linked recessive inheritance	HP:0001419
4952	OCRL	Camptodactyly of finger	HP:0100490
4952	OCRL	Hypoammonemia	HP:0100493
4952	OCRL	Atelectasis	HP:0100750
4952	OCRL	Dehydration	HP:0001944
4952	OCRL	Hypoplasia of dental enamel	HP:0006297
4952	OCRL	Protruding ear	HP:0000411
4952	OCRL	Recurrent respiratory infections	HP:0002205
4952	OCRL	Carious teeth	HP:0000670
4952	OCRL	Platyspondyly	HP:0000926
4952	OCRL	Vitamin D deficiency	HP:0100512
4952	OCRL	Sparse scalp hair	HP:0002209
4952	OCRL	Elevated serum creatine kinase	HP:0003236
4952	OCRL	Fine hair	HP:0002213
4952	OCRL	Dental crowding	HP:0000678
4952	OCRL	Taurodontia	HP:0000679
4952	OCRL	Feeding difficulties in infancy	HP:0008872
4952	OCRL	Abnormality of dental enamel	HP:0000682
4952	OCRL	Delayed eruption of teeth	HP:0000684
4952	OCRL	Abnormality of the metaphysis	HP:0000944
4952	OCRL	Abnormal calcium-phosphate regulating hormone level	HP:0100530
4952	OCRL	Patellar dislocation	HP:0002999
4952	OCRL	Multiple renal cysts	HP:0005562
4952	OCRL	Rickets	HP:0002748
4952	OCRL	Osteomalacia	HP:0002749
4952	OCRL	Narrow palate	HP:0000189
4952	OCRL	Cognitive impairment	HP:0100543
4952	OCRL	Periodontitis	HP:0000704
4952	OCRL	Open mouth	HP:0000194
4952	OCRL	Pathologic fracture	HP:0002756
4952	OCRL	Recurrent fractures	HP:0002757
4952	OCRL	Periventricular cysts	HP:0007109
4952	OCRL	Childhood onset	HP:0011463
4952	OCRL	Wrist swelling	HP:0001225
4952	OCRL	Subcutaneous nodule	HP:0001482
4952	OCRL	Renal Fanconi syndrome	HP:0001994
4952	OCRL	Depressivity	HP:0000716
4952	OCRL	Aggressive behavior	HP:0000718
4952	OCRL	Obsessive-compulsive behavior	HP:0000722
4952	OCRL	Deep philtrum	HP:0002002
4952	OCRL	Glomerulopathy	HP:0100820
4952	OCRL	Frontal bossing	HP:0002007
4952	OCRL	Cheilitis	HP:0100825
4952	OCRL	Thin upper lip vermilion	HP:0000219
4952	OCRL	Atypical scarring of skin	HP:0000987
4952	OCRL	Stereotypy	HP:0000733
4952	OCRL	Intellectual disability	HP:0001249
4952	OCRL	Short stature	HP:0004322
4952	OCRL	Benign neoplasm of the central nervous system	HP:0100835
4952	OCRL	Seizures	HP:0001250
4952	OCRL	Anxiety	HP:0000739
4952	OCRL	Constipation	HP:0002019
4952	OCRL	Gastroesophageal reflux	HP:0002020
4952	OCRL	Failure to thrive	HP:0001508
4952	OCRL	Strabismus	HP:0000486
4952	OCRL	Gingivitis	HP:0000230
4952	OCRL	Oligosacchariduria	HP:0010471
4952	OCRL	Everted lower lip vermilion	HP:0000232
4952	OCRL	Malabsorption	HP:0002024
4952	OCRL	Deeply set eye	HP:0000490
4952	OCRL	Urogenital fistula	HP:0100589
4952	OCRL	Global developmental delay	HP:0001263
4952	OCRL	Reduced visual acuity	HP:0007663
4952	OCRL	Death in infancy	HP:0001522
4952	OCRL	Glaucoma	HP:0000501
4952	OCRL	Kyphosis	HP:0002808
4952	OCRL	Visual impairment	HP:0000505
127833	SYT2	Pectus carinatum	HP:0000768
127833	SYT2	Narrow jaw	HP:0012801
127833	SYT2	Skeletal muscle atrophy	HP:0003202
127833	SYT2	EMG: myopathic abnormalities	HP:0003458
127833	SYT2	Bulbar palsy	HP:0001283
127833	SYT2	Areflexia	HP:0001284
127833	SYT2	Autosomal dominant inheritance	HP:0000006
127833	SYT2	Central hypotonia	HP:0011398
127833	SYT2	Gait disturbance	HP:0001288
127833	SYT2	Motor polyneuropathy	HP:0007178
127833	SYT2	Diplopia	HP:0000651
127833	SYT2	Fatigable weakness	HP:0003473
127833	SYT2	Toe walking	HP:0040083
127833	SYT2	Long face	HP:0000276
127833	SYT2	Episodic respiratory distress	HP:0004885
127833	SYT2	Decreased fetal movement	HP:0001558
127833	SYT2	Sensorineural hearing impairment	HP:0000407
127833	SYT2	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
127833	SYT2	Polyhydramnios	HP:0001561
127833	SYT2	Distal muscle weakness	HP:0002460
127833	SYT2	Recurrent respiratory infections	HP:0002205
127833	SYT2	Central sleep apnea	HP:0010536
127833	SYT2	Difficulty walking	HP:0002355
127833	SYT2	Microretrognathia	HP:0000308
127833	SYT2	Esotropia	HP:0000565
127833	SYT2	Frontalis muscle weakness	HP:0004661
127833	SYT2	Obstructive sleep apnea	HP:0002870
127833	SYT2	Respiratory arrest	HP:0005943
127833	SYT2	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
127833	SYT2	Staring gaze	HP:0025401
127833	SYT2	Easy fatigability	HP:0003388
127833	SYT2	EMG: impaired neuromuscular transmission	HP:0100285
127833	SYT2	Kyphoscoliosis	HP:0002751
127833	SYT2	Cyanosis	HP:0000961
127833	SYT2	Sudden episodic apnea	HP:0002882
127833	SYT2	Stridor	HP:0010307
127833	SYT2	Muscle fiber atrophy	HP:0100295
127833	SYT2	Nasal speech	HP:0001611
127833	SYT2	Weak cry	HP:0001612
127833	SYT2	Nasal regurgitation	HP:0011469
127833	SYT2	Dysphonia	HP:0001618
127833	SYT2	Neck muscle weakness	HP:0000467
127833	SYT2	Waddling gait	HP:0002515
127833	SYT2	EEG with polyspike wave complexes	HP:0002392
127833	SYT2	High palate	HP:0000218
127833	SYT2	Ophthalmoplegia	HP:0000602
127833	SYT2	Distal lower limb muscle weakness	HP:0009053
127833	SYT2	Congenital hip dislocation	HP:0001374
127833	SYT2	Dysphagia	HP:0002015
127833	SYT2	Pes cavus	HP:0001761
127833	SYT2	Intellectual disability	HP:0001249
127833	SYT2	Seizures	HP:0001250
127833	SYT2	Ataxia	HP:0001251
127833	SYT2	Gastroesophageal reflux	HP:0002020
127833	SYT2	Hammertoe	HP:0001765
127833	SYT2	Spinal rigidity	HP:0003306
127833	SYT2	Joint laxity	HP:0001388
127833	SYT2	Hearing impairment	HP:0000365
127833	SYT2	Distal amyotrophy	HP:0003693
127833	SYT2	Hyporeflexia	HP:0001265
127833	SYT2	Low-set ears	HP:0000369
127833	SYT2	Poor suck	HP:0002033
127833	SYT2	Arthrogryposis multiplex congenita	HP:0002804
127833	SYT2	Proximal muscle weakness	HP:0003701
127833	SYT2	Poor head control	HP:0002421
127833	SYT2	Motor delay	HP:0001270
127833	SYT2	Choking episodes	HP:0030842
127833	SYT2	Spinal deformities	HP:0008443
127833	SYT2	Generalized muscle weakness	HP:0003324
127833	SYT2	Ptosis	HP:0000508
127833	SYT2	Limb-girdle muscle weakness	HP:0003325
127833	SYT2	Nystagmus	HP:0000639
54112	GPR88	Intellectual disability	HP:0001249
54112	GPR88	Poor speech	HP:0002465
54112	GPR88	Autosomal recessive inheritance	HP:0000007
54112	GPR88	Chorea	HP:0002072
54112	GPR88	Abnormal head movements	HP:0002457
54112	GPR88	Global developmental delay	HP:0001263
283489	CHAMP1	Absent speech	HP:0001344
283489	CHAMP1	Feeding difficulties	HP:0011968
283489	CHAMP1	Open mouth	HP:0000194
283489	CHAMP1	Short philtrum	HP:0000322
283489	CHAMP1	Upslanted palpebral fissure	HP:0000582
283489	CHAMP1	Autosomal dominant inheritance	HP:0000006
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	Recurrent respiratory infections	HP:0002205
283489	CHAMP1	Stereotypy	HP:0000733
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
4967	OGDH	Short stature	HP:0004322
4967	OGDH	Skeletal muscle atrophy	HP:0003202
4967	OGDH	Ataxia	HP:0001251
4967	OGDH	Muscular hypotonia	HP:0001252
4967	OGDH	Congenital lactic acidosis	HP:0004902
4967	OGDH	Increased serum lactate	HP:0002151
4967	OGDH	Autosomal recessive inheritance	HP:0000007
4967	OGDH	Generalized hypotonia	HP:0001290
4967	OGDH	Death in childhood	HP:0003819
4967	OGDH	Abnormal salivary gland morphology	HP:0010286
4967	OGDH	Hydrocephalus	HP:0000238
4967	OGDH	Global developmental delay	HP:0001263
4967	OGDH	Abnormality of Krebs cycle metabolism	HP:0000816
4967	OGDH	Abnormal urine alpha-ketoglutarate concentration	HP:0012401
4967	OGDH	Metabolic acidosis	HP:0001942
4967	OGDH	Abnormality of movement	HP:0100022
4967	OGDH	Hypertonia	HP:0001276
4968	OGG1	Renal cell carcinoma	HP:0005584
4968	OGG1	Sporadic	HP:0003745
4976	OPA1	Skeletal muscle atrophy	HP:0003202
4976	OPA1	Red-green dyschromatopsia	HP:0000642
4976	OPA1	Opisthotonus	HP:0002179
4976	OPA1	Insidious onset	HP:0003587
4976	OPA1	Autosomal dominant inheritance	HP:0000006
4976	OPA1	Autosomal recessive inheritance	HP:0000007
4976	OPA1	Optic atrophy	HP:0000648
4976	OPA1	Gait disturbance	HP:0001288
4976	OPA1	Abnormality of visual evoked potentials	HP:0000649
4976	OPA1	Abnormal amplitude of pattern reversal visual evoked potentials	HP:0000650
4976	OPA1	Progressive spasticity	HP:0002191
4976	OPA1	Progressive visual loss	HP:0000529
4976	OPA1	Hamstring contractures	HP:0003089
4976	OPA1	Caesarian section	HP:0011410
4976	OPA1	Sensorineural hearing impairment	HP:0000407
4976	OPA1	Progressive sensorineural hearing impairment	HP:0000408
4976	OPA1	Horizontal nystagmus	HP:0000666
4976	OPA1	Dysmetria	HP:0001310
4976	OPA1	Babinski sign	HP:0003487
4976	OPA1	Impaired pain sensation	HP:0007328
4976	OPA1	Retinal degeneration	HP:0000546
4976	OPA1	Reduced tendon reflexes	HP:0001315
4976	OPA1	Color vision defect	HP:0000551
4976	OPA1	Feeding difficulties in infancy	HP:0008872
4976	OPA1	Tritanomaly	HP:0000552
4976	OPA1	Abnormal auditory evoked potentials	HP:0006958
4976	OPA1	Apnea	HP:0002104
4976	OPA1	Tremor	HP:0001337
4976	OPA1	Profound global developmental delay	HP:0012736
4976	OPA1	Centrocecal scotoma	HP:0000576
4976	OPA1	Hyperreflexia	HP:0001347
4976	OPA1	Weak cry	HP:0001612
4976	OPA1	Progressive external ophthalmoplegia	HP:0000590
4976	OPA1	Pallor	HP:0000980
4976	OPA1	Breech presentation	HP:0001623
4976	OPA1	Ophthalmoplegia	HP:0000602
4976	OPA1	Central scotoma	HP:0000603
4976	OPA1	Progressive	HP:0003676
4976	OPA1	Adductor longus contractures	HP:0006366
4976	OPA1	Intellectual disability	HP:0001249
4976	OPA1	Ataxia	HP:0001251
4976	OPA1	Increased variability in muscle fiber diameter	HP:0003557
4976	OPA1	Strabismus	HP:0000486
4976	OPA1	Peripheral neuropathy	HP:0009830
4976	OPA1	Hypertrophic cardiomyopathy	HP:0001639
4976	OPA1	Muscular hypotonia of the trunk	HP:0008936
4976	OPA1	Spasticity	HP:0001257
4976	OPA1	Achilles tendon contracture	HP:0001771
4976	OPA1	Reduced visual acuity	HP:0007663
4976	OPA1	Proximal muscle weakness	HP:0003701
4976	OPA1	Incomplete penetrance	HP:0003829
4976	OPA1	Motor delay	HP:0001270
4976	OPA1	Cerebellar atrophy	HP:0001272
4976	OPA1	Visual impairment	HP:0000505
4976	OPA1	Decreased nerve conduction velocity	HP:0000762
4976	OPA1	Ptosis	HP:0000508
4976	OPA1	Myopathy	HP:0003198
4976	OPA1	Nystagmus	HP:0000639
4978	OPCML	Abnormality of metabolism/homeostasis	HP:0001939
4978	OPCML	Ovarian papillary adenocarcinoma	HP:0006774
4978	OPCML	Autosomal dominant inheritance	HP:0000006
4978	OPCML	Breast carcinoma	HP:0003002
4978	OPCML	Dysgerminoma	HP:0100621
4982	TNFRSF11B	Macrocephaly	HP:0000256
4982	TNFRSF11B	Pectus carinatum	HP:0000768
4982	TNFRSF11B	Recurrent fractures	HP:0002757
4982	TNFRSF11B	Autosomal recessive inheritance	HP:0000007
4982	TNFRSF11B	Optic atrophy	HP:0000648
4982	TNFRSF11B	Hydroxyprolinuria	HP:0003080
4982	TNFRSF11B	Subcutaneous nodule	HP:0001482
4982	TNFRSF11B	Elevated serum acid phosphatase	HP:0003148
4982	TNFRSF11B	Angioid streaks of the fundus	HP:0001102
4982	TNFRSF11B	Premature loss of teeth	HP:0006480
4982	TNFRSF11B	Barrel-shaped chest	HP:0001552
4982	TNFRSF11B	Elevated alkaline phosphatase	HP:0003155
4982	TNFRSF11B	Cranial hyperostosis	HP:0004437
4982	TNFRSF11B	Bowing of the long bones	HP:0006487
4982	TNFRSF11B	Abnormality of retinal pigmentation	HP:0007703
4982	TNFRSF11B	Sensorineural hearing impairment	HP:0000407
4982	TNFRSF11B	Hyperphosphatemia	HP:0002905
4982	TNFRSF11B	Progressive	HP:0003676
4982	TNFRSF11B	Short stature	HP:0004322
4982	TNFRSF11B	Melanocytic nevus	HP:0000995
4982	TNFRSF11B	Abnormality of the dentition	HP:0000164
4982	TNFRSF11B	Hyperuricemia	HP:0002149
4982	TNFRSF11B	Ankylosis	HP:0031013
4982	TNFRSF11B	Retinopathy	HP:0000488
4982	TNFRSF11B	Osteoporosis	HP:0000939
4982	TNFRSF11B	Muscle weakness	HP:0001324
4982	TNFRSF11B	Hearing impairment	HP:0000365
4982	TNFRSF11B	Variable expressivity	HP:0003828
4982	TNFRSF11B	Hypertension	HP:0000822
4982	TNFRSF11B	Motor delay	HP:0001270
4982	TNFRSF11B	Kyphosis	HP:0002808
4982	TNFRSF11B	Abnormality of the clavicle	HP:0000889
4982	TNFRSF11B	Increased bone mineral density	HP:0011001
4982	TNFRSF11B	Macular scar	HP:0200056
4982	TNFRSF11B	Thickened calvaria	HP:0002684
4982	TNFRSF11B	Hydroxyprolinemia	HP:0003260
4982	TNFRSF11B	Rough bone trabeculation	HP:0100670
4983	OPHN1	Macrocephaly	HP:0000256
4983	OPHN1	Short philtrum	HP:0000322
4983	OPHN1	Ventriculomegaly	HP:0002119
4983	OPHN1	Cerebral cortical atrophy	HP:0002120
4983	OPHN1	Infantile onset	HP:0003593
4983	OPHN1	Generalized hypotonia	HP:0001290
4983	OPHN1	X-linked recessive inheritance	HP:0001419
4983	OPHN1	Autism	HP:0000717
4983	OPHN1	Macrotia	HP:0000400
4983	OPHN1	Prominent supraorbital ridges	HP:0000336
4983	OPHN1	Gait ataxia	HP:0002066
4983	OPHN1	Long face	HP:0000276
4983	OPHN1	Prominent forehead	HP:0011220
4983	OPHN1	Frontal bossing	HP:0002007
4983	OPHN1	Disorganization of the anterior cerebellar vermis	HP:0007065
4983	OPHN1	Hypotelorism	HP:0000601
4983	OPHN1	Thin upper lip vermilion	HP:0000219
4983	OPHN1	Cryptorchidism	HP:0000028
4983	OPHN1	Dysmetria	HP:0001310
4983	OPHN1	Abnormality of the philtrum	HP:0000288
4983	OPHN1	Intellectual disability	HP:0001249
4983	OPHN1	Seizures	HP:0001250
4983	OPHN1	Muscular hypotonia	HP:0001252
4983	OPHN1	Strabismus	HP:0000486
4983	OPHN1	Retrocerebellar cyst	HP:0006951
4983	OPHN1	Enlarged cisterna magna	HP:0002280
4983	OPHN1	Cerebellar hypoplasia	HP:0001321
4983	OPHN1	Spasticity	HP:0001257
4983	OPHN1	Attention deficit hyperactivity disorder	HP:0007018
4983	OPHN1	Deeply set eye	HP:0000490
4983	OPHN1	Delayed speech and language development	HP:0000750
4983	OPHN1	Scrotal hypoplasia	HP:0000046
4983	OPHN1	Global developmental delay	HP:0001263
4983	OPHN1	Mandibular prognathia	HP:0000303
4983	OPHN1	Hyperactivity	HP:0000752
4983	OPHN1	Microphallus	HP:0030260
4983	OPHN1	Long nose	HP:0003189
4983	OPHN1	Micropenis	HP:0000054
4983	OPHN1	Neurological speech impairment	HP:0002167
4983	OPHN1	Nystagmus	HP:0000639
201595	STT3B	Feeding difficulties	HP:0011968
201595	STT3B	Intellectual disability	HP:0001249
201595	STT3B	Seizures	HP:0001250
201595	STT3B	Decreased liver function	HP:0001410
201595	STT3B	Failure to thrive	HP:0001508
201595	STT3B	Intrauterine growth retardation	HP:0001511
201595	STT3B	Autosomal recessive inheritance	HP:0000007
201595	STT3B	Optic atrophy	HP:0000648
201595	STT3B	Generalized hypotonia	HP:0001290
201595	STT3B	Death in childhood	HP:0003819
201595	STT3B	Scrotal hypoplasia	HP:0000046
201595	STT3B	Global developmental delay	HP:0001263
201595	STT3B	Thrombocytopenia	HP:0001873
201595	STT3B	Respiratory distress	HP:0002098
201595	STT3B	Micropenis	HP:0000054
201595	STT3B	Cerebellar atrophy	HP:0001272
201595	STT3B	Abnormal glycosylation	HP:0012345
201595	STT3B	Congenital onset	HP:0003577
201595	STT3B	Microcephaly	HP:0000252
201595	STT3B	Cryptorchidism	HP:0000028
4990	SIX6	Postnatal growth retardation	HP:0008897
4990	SIX6	Anterior pituitary hypoplasia	HP:0010627
4990	SIX6	Vertebral fusion	HP:0002948
4990	SIX6	Cataract	HP:0000518
4990	SIX6	Autosomal dominant inheritance	HP:0000006
4990	SIX6	Rib fusion	HP:0000902
4990	SIX6	Autosomal recessive inheritance	HP:0000007
4990	SIX6	Generalized hypotonia	HP:0001290
4990	SIX6	Hypothalamic hamartoma	HP:0002444
4990	SIX6	Coloboma	HP:0000589
4990	SIX6	Spastic tetraplegia	HP:0002510
4990	SIX6	Anophthalmia	HP:0000528
4990	SIX6	Frontal bossing	HP:0002007
4990	SIX6	Sensorineural hearing impairment	HP:0000407
4990	SIX6	Missing ribs	HP:0000921
4990	SIX6	Horizontal nystagmus	HP:0000666
4990	SIX6	Cryptorchidism	HP:0000028
4990	SIX6	Retinal detachment	HP:0000541
4990	SIX6	Ventricular septal defect	HP:0001629
4990	SIX6	Hypoplasia of the corpus callosum	HP:0002079
4990	SIX6	Optic nerve hypoplasia	HP:0000609
4990	SIX6	Vertebral hypoplasia	HP:0008417
4990	SIX6	Short stature	HP:0004322
4990	SIX6	Iris coloboma	HP:0000612
4990	SIX6	Muscular hypotonia	HP:0001252
4990	SIX6	Miosis	HP:0000616
4990	SIX6	Macular atrophy	HP:0007401
4990	SIX6	Patent ductus arteriosus	HP:0001643
4990	SIX6	Retinal dystrophy	HP:0000556
4990	SIX6	Hypogonadotrophic hypogonadism	HP:0000044
4990	SIX6	Hypospadias	HP:0000047
4990	SIX6	Global developmental delay	HP:0001263
4990	SIX6	Esophageal atresia	HP:0002032
4990	SIX6	Specific learning disability	HP:0001328
4990	SIX6	Spastic diplegia	HP:0001264
4990	SIX6	Butterfly vertebrae	HP:0003316
4990	SIX6	Glaucoma	HP:0000501
4990	SIX6	Micropenis	HP:0000054
4990	SIX6	Chorioretinal coloboma	HP:0000567
4990	SIX6	Supernumerary ribs	HP:0005815
4990	SIX6	Microphthalmia	HP:0000568
4990	SIX6	Hemivertebrae	HP:0002937
4990	SIX6	Agenesis of corpus callosum	HP:0001274
4990	SIX6	Microcephaly	HP:0000252
4990	SIX6	Nystagmus	HP:0000639
4998	ORC1	Pectus carinatum	HP:0000768
4998	ORC1	Joint contracture of the hand	HP:0009473
4998	ORC1	Microtia, third degree	HP:0011267
4998	ORC1	Hyperconvex nail	HP:0001795
4998	ORC1	Aplastic clavicle	HP:0006660
4998	ORC1	Abnormality of the ribs	HP:0000772
4998	ORC1	Short ribs	HP:0000773
4998	ORC1	Osteochondritis Dissecans	HP:0010886
4998	ORC1	Autosomal recessive inheritance	HP:0000007
4998	ORC1	Camptodactyly of finger	HP:0100490
4998	ORC1	Flat glenoid fossa	HP:0000911
4998	ORC1	Long eyelashes	HP:0000527
4998	ORC1	High, narrow palate	HP:0002705
4998	ORC1	Heterogeneous	HP:0001425
4998	ORC1	Retrognathia	HP:0000278
4998	ORC1	Genu varum	HP:0002970
4998	ORC1	Slender long bone	HP:0003100
4998	ORC1	Cryptorchidism	HP:0000028
4998	ORC1	Atresia of the external auditory canal	HP:0000413
4998	ORC1	Hypoplasia of penis	HP:0008736
4998	ORC1	Narrow mouth	HP:0000160
4998	ORC1	Anotia	HP:0009892
4998	ORC1	Epispadias	HP:0000039
4998	ORC1	Feeding difficulties in infancy	HP:0008872
4998	ORC1	Genu valgum	HP:0002857
4998	ORC1	Abnormality of epiphysis morphology	HP:0005930
4998	ORC1	Patellar aplasia	HP:0006443
4998	ORC1	Breast aplasia	HP:0100783
4998	ORC1	Hypospadias	HP:0000047
4998	ORC1	Cleft palate	HP:0000175
4998	ORC1	Specific learning disability	HP:0001328
4998	ORC1	Submucous cleft hard palate	HP:0000176
4998	ORC1	Shawl scrotum	HP:0000049
4998	ORC1	Respiratory distress	HP:0002098
4998	ORC1	Microdontia	HP:0000691
4998	ORC1	Thick lower lip vermilion	HP:0000179
4998	ORC1	Severe short stature	HP:0003510
4998	ORC1	Micropenis	HP:0000054
4998	ORC1	Thick vermilion border	HP:0012471
4998	ORC1	Short palm	HP:0004279
4998	ORC1	Cutaneous finger syndactyly	HP:0010554
4998	ORC1	Hypoplastic labia majora	HP:0000059
4998	ORC1	Clitoral hypoplasia	HP:0000060
4998	ORC1	Joint hyperflexibility	HP:0005692
4998	ORC1	Respiratory failure	HP:0002878
4998	ORC1	Delayed skeletal maturation	HP:0002750
4998	ORC1	Absent glenoid fossa	HP:0006591
4998	ORC1	Hypoplastic labia minora	HP:0000064
4998	ORC1	Feeding difficulties	HP:0011968
4998	ORC1	Bifid uvula	HP:0000193
4998	ORC1	Thin skin	HP:0000963
4998	ORC1	Blepharophimosis	HP:0000581
4998	ORC1	Hypoplasia of the maxilla	HP:0000327
4998	ORC1	Short palpebral fissure	HP:0012745
4998	ORC1	Mandibular aplasia	HP:0009939
4998	ORC1	Craniosynostosis	HP:0001363
4998	ORC1	Abnormality of pelvic girdle bone morphology	HP:0002644
4998	ORC1	Frontal bossing	HP:0002007
4998	ORC1	Breech presentation	HP:0001623
4998	ORC1	Clitoral hypertrophy	HP:0008665
4998	ORC1	High palate	HP:0000218
4998	ORC1	Micrognathia	HP:0000347
4998	ORC1	Intellectual disability	HP:0001249
4998	ORC1	Camptodactyly	HP:0012385
4998	ORC1	Elbow dislocation	HP:0003042
4998	ORC1	Talipes equinovarus	HP:0001762
4998	ORC1	Aplasia/Hypoplasia of the patella	HP:0006498
4998	ORC1	Failure to thrive	HP:0001508
4998	ORC1	Gastroesophageal reflux	HP:0002020
4998	ORC1	Absent sternal ossification	HP:0006628
4998	ORC1	Posteriorly rotated ears	HP:0000358
4998	ORC1	Strabismus	HP:0000486
4998	ORC1	Intrauterine growth retardation	HP:0001511
4998	ORC1	Microtia	HP:0008551
4998	ORC1	Birth length less than 3rd percentile	HP:0003561
4998	ORC1	Joint laxity	HP:0001388
4998	ORC1	Hearing impairment	HP:0000365
4998	ORC1	Small anterior fontanelle	HP:0000237
4998	ORC1	Small for gestational age	HP:0001518
4998	ORC1	Global developmental delay	HP:0001263
4998	ORC1	Clinodactyly of the 5th finger	HP:0004209
4998	ORC1	Low-set ears	HP:0000369
4998	ORC1	Coxa valga	HP:0002673
4998	ORC1	Thin ribs	HP:0000883
4998	ORC1	Breast hypoplasia	HP:0003187
4998	ORC1	Small hand	HP:0200055
4998	ORC1	Incomplete partition of the cochlea type II	HP:0000376
4998	ORC1	Hemivertebrae	HP:0002937
4998	ORC1	Microcephaly	HP:0000252
4998	ORC1	Lateral clavicle hook	HP:0000895
5000	ORC4	Microtia, third degree	HP:0011267
5000	ORC4	Aplastic clavicle	HP:0006660
5000	ORC4	Abnormality of the ribs	HP:0000772
5000	ORC4	Autosomal recessive inheritance	HP:0000007
5000	ORC4	Camptodactyly of finger	HP:0100490
5000	ORC4	Dolichocephaly	HP:0000268
5000	ORC4	High, narrow palate	HP:0002705
5000	ORC4	Retrognathia	HP:0000278
5000	ORC4	Slender long bone	HP:0003100
5000	ORC4	Cryptorchidism	HP:0000028
5000	ORC4	Atresia of the external auditory canal	HP:0000413
5000	ORC4	Hypoplasia of penis	HP:0008736
5000	ORC4	Narrow mouth	HP:0000160
5000	ORC4	Anotia	HP:0009892
5000	ORC4	Epispadias	HP:0000039
5000	ORC4	Abnormality of epiphysis morphology	HP:0005930
5000	ORC4	Patellar aplasia	HP:0006443
5000	ORC4	Breast aplasia	HP:0100783
5000	ORC4	Underdeveloped nasal alae	HP:0000430
5000	ORC4	Hypospadias	HP:0000047
5000	ORC4	Specific learning disability	HP:0001328
5000	ORC4	Submucous cleft hard palate	HP:0000176
5000	ORC4	Respiratory distress	HP:0002098
5000	ORC4	Severe short stature	HP:0003510
5000	ORC4	Thick vermilion border	HP:0012471
5000	ORC4	Hypoplastic labia majora	HP:0000059
5000	ORC4	Clitoral hypoplasia	HP:0000060
5000	ORC4	Joint hyperflexibility	HP:0005692
5000	ORC4	Respiratory failure	HP:0002878
5000	ORC4	Delayed skeletal maturation	HP:0002750
5000	ORC4	Smooth philtrum	HP:0000319
5000	ORC4	Hypoplastic labia minora	HP:0000064
5000	ORC4	Feeding difficulties	HP:0011968
5000	ORC4	Bifid uvula	HP:0000193
5000	ORC4	Hypoplasia of the maxilla	HP:0000327
5000	ORC4	Mandibular aplasia	HP:0009939
5000	ORC4	Craniosynostosis	HP:0001363
5000	ORC4	High pitched voice	HP:0001620
5000	ORC4	Clitoral hypertrophy	HP:0008665
5000	ORC4	Micrognathia	HP:0000347
5000	ORC4	Tracheomalacia	HP:0002779
5000	ORC4	Bronchomalacia	HP:0002780
5000	ORC4	Intellectual disability	HP:0001249
5000	ORC4	Camptodactyly	HP:0012385
5000	ORC4	Elbow dislocation	HP:0003042
5000	ORC4	Aplasia/Hypoplasia of the patella	HP:0006498
5000	ORC4	Failure to thrive	HP:0001508
5000	ORC4	Gastroesophageal reflux	HP:0002020
5000	ORC4	Posteriorly rotated ears	HP:0000358
5000	ORC4	Joint hypermobility	HP:0001382
5000	ORC4	Intrauterine growth retardation	HP:0001511
5000	ORC4	Microtia	HP:0008551
5000	ORC4	Birth length less than 3rd percentile	HP:0003561
5000	ORC4	Hearing impairment	HP:0000365
5000	ORC4	Global developmental delay	HP:0001263
5000	ORC4	Clinodactyly of the 5th finger	HP:0004209
5000	ORC4	Low-set ears	HP:0000369
5000	ORC4	Breast hypoplasia	HP:0003187
5000	ORC4	Microcephaly	HP:0000252
5002	SLC22A18	Heterogeneous	HP:0001425
5002	SLC22A18	Somatic mutation	HP:0001428
5002	SLC22A18	Autosomal dominant inheritance	HP:0000006
5002	SLC22A18	Alveolar cell carcinoma	HP:0006519
5002	SLC22A18	Autosomal recessive inheritance	HP:0000007
5002	SLC22A18	Embryonal rhabdomyosarcoma	HP:0006743
5002	SLC22A18	Breast carcinoma	HP:0003002
5009	OTC	Irritability	HP:0000737
5009	OTC	Intellectual disability	HP:0001249
5009	OTC	Seizures	HP:0001250
5009	OTC	Hyperammonemia	HP:0001987
5009	OTC	Ataxia	HP:0001251
5009	OTC	Failure to thrive	HP:0001508
5009	OTC	Pyloric stenosis	HP:0002021
5009	OTC	Cerebral edema	HP:0002181
5009	OTC	Lethargy	HP:0001254
5009	OTC	Coma	HP:0001259
5009	OTC	X-linked recessive inheritance	HP:0001419
5009	OTC	Global developmental delay	HP:0001263
5009	OTC	Splenomegaly	HP:0001744
5009	OTC	Hyperglutaminemia	HP:0003217
5009	OTC	Stroke	HP:0001297
5009	OTC	Episodic ataxia	HP:0002131
5009	OTC	Low plasma citrulline	HP:0003572
5009	OTC	Protein avoidance	HP:0002038
5009	OTC	Hypoglycemia	HP:0001943
5009	OTC	Hepatic failure	HP:0001399
5009	OTC	Aminoaciduria	HP:0003355
5009	OTC	Vomiting	HP:0002013
5009	OTC	Respiratory alkalosis	HP:0001950
5009	OTC	Episodic ammonia intoxication	HP:0001951
100144748	KLLN	Lipoma	HP:0012032
100144748	KLLN	Macrocephaly	HP:0000256
100144748	KLLN	Gynecomastia	HP:0000771
100144748	KLLN	Brachydactyly	HP:0001156
100144748	KLLN	Cataract	HP:0000518
100144748	KLLN	Multiple cafe-au-lait spots	HP:0007565
100144748	KLLN	Cavernous hemangioma	HP:0001048
100144748	KLLN	Hypopigmented skin patches	HP:0001053
100144748	KLLN	Bone cyst	HP:0012062
100144748	KLLN	Macroglossia	HP:0000158
100144748	KLLN	Myopia	HP:0000545
100144748	KLLN	Abnormality of the penis	HP:0000036
100144748	KLLN	Abnormal cerebellum morphology	HP:0001317
100144748	KLLN	Hamartomatous polyposis	HP:0004390
100144748	KLLN	Abnormality of the gingiva	HP:0000168
100144748	KLLN	Meningioma	HP:0002858
100144748	KLLN	Trichilemmoma	HP:0012844
100144748	KLLN	Conjunctival hamartoma	HP:0100780
100144748	KLLN	Melanoma	HP:0002861
100144748	KLLN	Breast carcinoma	HP:0003002
100144748	KLLN	Macule	HP:0012733
100144748	KLLN	Cognitive impairment	HP:0100543
100144748	KLLN	Papilloma	HP:0012740
100144748	KLLN	Hamartoma	HP:0010566
100144748	KLLN	Subcutaneous nodule	HP:0001482
100144748	KLLN	Follicular thyroid carcinoma	HP:0006731
100144748	KLLN	Autism	HP:0000717
100144748	KLLN	Renal cell carcinoma	HP:0005584
100144748	KLLN	Endometrial carcinoma	HP:0012114
100144748	KLLN	Increased intracranial pressure	HP:0002516
100144748	KLLN	Goiter	HP:0000853
100144748	KLLN	Palmoplantar keratoderma	HP:0000982
100144748	KLLN	High palate	HP:0000218
100144748	KLLN	Scoliosis	HP:0002650
100144748	KLLN	Generalized hyperkeratosis	HP:0005595
100144748	KLLN	Furrowed tongue	HP:0000221
100144748	KLLN	Papule	HP:0200034
100144748	KLLN	Intellectual disability	HP:0001249
100144748	KLLN	Short stature	HP:0004322
100144748	KLLN	Seizures	HP:0001250
100144748	KLLN	Mucosal telangiectasiae	HP:0100579
100144748	KLLN	Melanocytic nevus	HP:0000995
100144748	KLLN	Enlarged polycystic ovaries	HP:0008675
100144748	KLLN	Ataxia	HP:0001251
100144748	KLLN	Failure to thrive	HP:0001508
100144748	KLLN	Hearing impairment	HP:0000365
100144748	KLLN	Global developmental delay	HP:0001263
100144748	KLLN	Adenoma sebaceum	HP:0009720
100144748	KLLN	Kyphosis	HP:0002808
100144748	KLLN	Colorectal polyposis	HP:0200063
100144748	KLLN	Cellular immunodeficiency	HP:0005374
100144748	KLLN	Renal neoplasm	HP:0009726
100144748	KLLN	Abnormality of buccal mucosa	HP:3000019
100144748	KLLN	Pectus excavatum	HP:0000767
5015	OTX2	Anterior pituitary agenesis	HP:0010626
5015	OTX2	Anterior pituitary hypoplasia	HP:0010627
5015	OTX2	Autosomal dominant inheritance	HP:0000006
5015	OTX2	Cataract	HP:0000518
5015	OTX2	Generalized hypotonia	HP:0001290
5015	OTX2	Abnormal cranial nerve morphology	HP:0001291
5015	OTX2	Amenorrhea	HP:0000141
5015	OTX2	Tracheoesophageal fistula	HP:0002575
5015	OTX2	Anophthalmia	HP:0000528
5015	OTX2	Infertility	HP:0000789
5015	OTX2	Hemiplegia/hemiparesis	HP:0004374
5015	OTX2	Abnormal prolactin level	HP:0040086
5015	OTX2	Sensorineural hearing impairment	HP:0000407
5015	OTX2	Hypoglycemia	HP:0001943
5015	OTX2	Polyhydramnios	HP:0001561
5015	OTX2	Cryptorchidism	HP:0000028
5015	OTX2	Decreased cervical spine mobility	HP:0004637
5015	OTX2	Decreased testicular size	HP:0008734
5015	OTX2	Hypoplasia of penis	HP:0008736
5015	OTX2	Abnormality of secondary sexual hair	HP:0009888
5015	OTX2	Situs inversus totalis	HP:0001696
5015	OTX2	Narrow mouth	HP:0000160
5015	OTX2	Polydipsia	HP:0001959
5015	OTX2	Osteopenia	HP:0000938
5015	OTX2	Microglossia	HP:0000171
5015	OTX2	Hypogonadotrophic hypogonadism	HP:0000044
5015	OTX2	Retinal dystrophy	HP:0000556
5015	OTX2	Cleft palate	HP:0000175
5015	OTX2	Respiratory distress	HP:0002098
5015	OTX2	Pituitary hypothyroidism	HP:0008245
5015	OTX2	Median cleft lip and palate	HP:0008501
5015	OTX2	Synotia	HP:0100663
5015	OTX2	Micropenis	HP:0000054
5015	OTX2	Delayed puberty	HP:0000823
5015	OTX2	Hypotension	HP:0002615
5015	OTX2	Sleep disturbance	HP:0002360
5015	OTX2	Microphthalmia	HP:0000568
5015	OTX2	Cyclopia	HP:0009914
5015	OTX2	Ectopic anterior pituitary gland	HP:0012731
5015	OTX2	Dry skin	HP:0000958
5015	OTX2	Delayed skeletal maturation	HP:0002750
5015	OTX2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
5015	OTX2	Aplasia/Hypoplasia involving the nose	HP:0009924
5015	OTX2	Hypohidrosis	HP:0000966
5015	OTX2	Aplasia/Hypoplasia of the breasts	HP:0010311
5015	OTX2	Pituitary dwarfism	HP:0000839
5015	OTX2	Maternal diabetes	HP:0009800
5015	OTX2	Depressed nasal ridge	HP:0000457
5015	OTX2	Anosmia	HP:0000458
5015	OTX2	Polydactyly	HP:0010442
5015	OTX2	Autism	HP:0000717
5015	OTX2	Coloboma	HP:0000589
5015	OTX2	Holoprosencephaly	HP:0001360
5015	OTX2	Severe global developmental delay	HP:0011344
5015	OTX2	Mandibular aplasia	HP:0009939
5015	OTX2	Abnormality of cardiovascular system morphology	HP:0030680
5015	OTX2	Fatigue	HP:0012378
5015	OTX2	Intellectual disability	HP:0001249
5015	OTX2	Optic nerve hypoplasia	HP:0000609
5015	OTX2	Short stature	HP:0004322
5015	OTX2	Seizures	HP:0001250
5015	OTX2	Microcornea	HP:0000482
5015	OTX2	Constipation	HP:0002019
5015	OTX2	Strabismus	HP:0000486
5015	OTX2	Decreased circulating ACTH level	HP:0002920
5015	OTX2	Obesity	HP:0001513
5015	OTX2	Diabetes insipidus	HP:0000873
5015	OTX2	Aplasia/Hypoplasia of the eyebrow	HP:0100840
5015	OTX2	Ectopic posterior pituitary	HP:0011755
5015	OTX2	Septo-optic dysplasia	HP:0100842
5015	OTX2	Joint laxity	HP:0001388
5015	OTX2	Global developmental delay	HP:0001263
5015	OTX2	Esophageal atresia	HP:0002032
5015	OTX2	Low-set, posteriorly rotated ears	HP:0000368
5015	OTX2	Absent nares	HP:0100596
5015	OTX2	Visual impairment	HP:0000505
5015	OTX2	Osteoporosis of vertebrae	HP:0005625
5015	OTX2	Agenesis of corpus callosum	HP:0001274
5015	OTX2	Narrow internal auditory canal	HP:0011386
5015	OTX2	Absence of secondary sex characteristics	HP:0008187
5015	OTX2	Nystagmus	HP:0000639
5019	OXCT1	Tachypnea	HP:0002789
5019	OXCT1	Episodic ketoacidosis	HP:0005974
5019	OXCT1	Ketonuria	HP:0002919
5019	OXCT1	Autosomal recessive inheritance	HP:0000007
5019	OXCT1	Vomiting	HP:0002013
5032	P2RY11	Hallucinations	HP:0000738
5032	P2RY11	Transient global amnesia	HP:0010534
5032	P2RY11	Slurred speech	HP:0001350
5032	P2RY11	Abnormality of vision	HP:0000504
5032	P2RY11	Obesity	HP:0001513
5032	P2RY11	Cataplexy	HP:0002524
5032	P2RY11	Excessive daytime sleepiness	HP:0002189
5032	P2RY11	Abnormal rapid eye movement sleep	HP:0002494
5032	P2RY11	Syncope	HP:0001279
5034	P4HB	Abnormality of the ribs	HP:0000772
5034	P4HB	Recurrent fractures	HP:0002757
5034	P4HB	Turricephaly	HP:0000262
5034	P4HB	Autosomal dominant inheritance	HP:0000006
5034	P4HB	Abnormality of the voice	HP:0001608
5034	P4HB	Proptosis	HP:0000520
5034	P4HB	Vertebral compression fractures	HP:0002953
5034	P4HB	Shallow orbits	HP:0000586
5034	P4HB	Blue sclerae	HP:0000592
5034	P4HB	High pitched voice	HP:0001620
5034	P4HB	Wormian bones	HP:0002645
5034	P4HB	Frontal bossing	HP:0002007
5034	P4HB	Bowing of the long bones	HP:0006487
5034	P4HB	Midface retrusion	HP:0011800
5034	P4HB	Coronal craniosynostosis	HP:0004440
5034	P4HB	Scoliosis	HP:0002650
5034	P4HB	Micrognathia	HP:0000347
5034	P4HB	Skeletal dysplasia	HP:0002652
5034	P4HB	Crumpled long bones	HP:0006367
5034	P4HB	Orbital craniosynostosis	HP:0005472
5034	P4HB	Short stature	HP:0004322
5034	P4HB	Muscular hypotonia	HP:0001252
5034	P4HB	Intrauterine growth retardation	HP:0001511
5034	P4HB	Abnormality of dental enamel	HP:0000682
5034	P4HB	Osteopenia	HP:0000938
5034	P4HB	Delayed eruption of teeth	HP:0000684
5034	P4HB	Downslanted palpebral fissures	HP:0000494
5034	P4HB	Hydrocephalus	HP:0000238
5034	P4HB	Global developmental delay	HP:0001263
5034	P4HB	Abnormality of the metaphysis	HP:0000944
5034	P4HB	Abnormal form of the vertebral bodies	HP:0003312
5034	P4HB	Microdontia	HP:0000691
5034	P4HB	Communicating hydrocephalus	HP:0001334
5034	P4HB	Kyphosis	HP:0002808
5034	P4HB	Joint hyperflexibility	HP:0005692
54187	NANS	Posterior scalloping of vertebral bodies	HP:0005121
54187	NANS	Short femoral neck	HP:0100864
54187	NANS	Autosomal recessive inheritance	HP:0000007
54187	NANS	Flared metaphysis	HP:0003015
54187	NANS	Ventriculomegaly	HP:0002119
54187	NANS	Generalized hypotonia	HP:0001290
54187	NANS	Cerebral atrophy	HP:0002059
54187	NANS	Long fibula	HP:0003085
54187	NANS	Metaphyseal irregularity	HP:0003025
54187	NANS	Prominent forehead	HP:0011220
54187	NANS	Short neck	HP:0000470
54187	NANS	Irregular epiphyses	HP:0010582
54187	NANS	Synophrys	HP:0000664
54187	NANS	Coarse facial features	HP:0000280
54187	NANS	Small basal ganglia	HP:0012697
54187	NANS	Small epiphyses	HP:0010585
54187	NANS	Carpal bone hypoplasia	HP:0001498
54187	NANS	Spondyloepimetaphyseal dysplasia	HP:0002651
54187	NANS	Platyspondyly	HP:0000926
54187	NANS	Epicanthus	HP:0000286
54187	NANS	Hypoplasia of the corpus callosum	HP:0002079
54187	NANS	Intellectual disability	HP:0001249
54187	NANS	Seizures	HP:0001250
54187	NANS	Ataxia	HP:0001251
54187	NANS	Muscular hypotonia	HP:0001252
54187	NANS	Irregular vertebral endplates	HP:0003301
54187	NANS	Strabismus	HP:0000486
54187	NANS	Low anterior hairline	HP:0000294
54187	NANS	Joint laxity	HP:0001388
54187	NANS	Flat acetabular roof	HP:0003180
54187	NANS	Hirsutism	HP:0001007
54187	NANS	Intellectual disability, severe	HP:0010864
54187	NANS	Low posterior hairline	HP:0002162
54187	NANS	Thick lower lip vermilion	HP:0000179
54187	NANS	Narrow iliac wings	HP:0002868
54187	NANS	Abnormality of the skin	HP:0000951
54187	NANS	Brachycephaly	HP:0000248
54187	NANS	Abnormality of the pinna	HP:0000377
54187	NANS	Microcephaly	HP:0000252
54187	NANS	Wide nose	HP:0000445
54187	NANS	Nystagmus	HP:0000639
5048	PAFAH1B1	Sacral dimple	HP:0000960
5048	PAFAH1B1	Omphalocele	HP:0001539
5048	PAFAH1B1	Abnormality of the cerebral white matter	HP:0002500
5048	PAFAH1B1	Spastic tetraparesis	HP:0001285
5048	PAFAH1B1	Ventriculomegaly	HP:0002119
5048	PAFAH1B1	Cerebral cortical atrophy	HP:0002120
5048	PAFAH1B1	Agyria	HP:0031882
5048	PAFAH1B1	Anteverted nares	HP:0000463
5048	PAFAH1B1	Pachygyria	HP:0001302
5048	PAFAH1B1	Short neck	HP:0000470
5048	PAFAH1B1	Frontal bossing	HP:0002007
5048	PAFAH1B1	Inguinal hernia	HP:0000023
5048	PAFAH1B1	Polyhydramnios	HP:0001561
5048	PAFAH1B1	Abnormality of the cardiovascular system	HP:0001626
5048	PAFAH1B1	High palate	HP:0000218
5048	PAFAH1B1	High forehead	HP:0000348
5048	PAFAH1B1	Epicanthus	HP:0000286
5048	PAFAH1B1	Congenital hip dislocation	HP:0001374
5048	PAFAH1B1	Hypoplasia of the corpus callosum	HP:0002079
5048	PAFAH1B1	Hypoplasia of penis	HP:0008736
5048	PAFAH1B1	Narrow mouth	HP:0000160
5048	PAFAH1B1	Sporadic	HP:0003745
5048	PAFAH1B1	Intellectual disability	HP:0001249
5048	PAFAH1B1	Seizures	HP:0001250
5048	PAFAH1B1	Tall stature	HP:0000098
5048	PAFAH1B1	Ataxia	HP:0001251
5048	PAFAH1B1	Muscular hypotonia	HP:0001252
5048	PAFAH1B1	Growth delay	HP:0001510
5048	PAFAH1B1	Perivascular spaces	HP:0012520
5048	PAFAH1B1	Muscular hypotonia of the trunk	HP:0008936
5048	PAFAH1B1	Cerebellar hypoplasia	HP:0001321
5048	PAFAH1B1	Gray matter heterotopia	HP:0002282
5048	PAFAH1B1	Postnatal microcephaly	HP:0005484
5048	PAFAH1B1	Downslanted palpebral fissures	HP:0000494
5048	PAFAH1B1	Global developmental delay	HP:0001263
5048	PAFAH1B1	Nephropathy	HP:0000112
5048	PAFAH1B1	Clinodactyly of the 5th finger	HP:0004209
5048	PAFAH1B1	EEG abnormality	HP:0002353
5048	PAFAH1B1	Abnormality of upper lip	HP:0000177
5048	PAFAH1B1	Low-set ears	HP:0000369
5048	PAFAH1B1	Variable expressivity	HP:0003828
5048	PAFAH1B1	Lissencephaly	HP:0001339
5048	PAFAH1B1	Short nose	HP:0003196
5048	PAFAH1B1	Hypertelorism	HP:0000316
5048	PAFAH1B1	Hypoplasia of the brainstem	HP:0002365
5048	PAFAH1B1	Wide nose	HP:0000445
5052	PRDX1	Decreased methionine synthase activity	HP:0003524
5052	PRDX1	Pigmentary retinopathy	HP:0000580
5052	PRDX1	Autosomal recessive inheritance	HP:0000007
5052	PRDX1	Hemolytic-uremic syndrome	HP:0005575
5052	PRDX1	Cerebral cortical atrophy	HP:0002120
5052	PRDX1	Decreased adenosylcobalamin	HP:0003145
5052	PRDX1	Infantile onset	HP:0003593
5052	PRDX1	Hypomethioninemia	HP:0003658
5052	PRDX1	Generalized hypotonia	HP:0001290
5052	PRDX1	Decreased methylmalonyl-CoA mutase activity	HP:0003210
5052	PRDX1	Macrotia	HP:0000400
5052	PRDX1	Cystathioninuria	HP:0003153
5052	PRDX1	Thrombocytopenia	HP:0001873
5052	PRDX1	Renal insufficiency	HP:0000083
5052	PRDX1	Neutropenia	HP:0001875
5052	PRDX1	Long face	HP:0000276
5052	PRDX1	Hematuria	HP:0000790
5052	PRDX1	Dementia	HP:0000726
5052	PRDX1	Cystathioninemia	HP:0003286
5052	PRDX1	Metabolic acidosis	HP:0001942
5052	PRDX1	Abnormality of extrapyramidal motor function	HP:0002071
5052	PRDX1	Decreased methylcobalamin	HP:0003223
5052	PRDX1	Methylmalonic aciduria	HP:0012120
5052	PRDX1	Delirium	HP:0031258
5052	PRDX1	High forehead	HP:0000348
5052	PRDX1	Proteinuria	HP:0000093
5052	PRDX1	Methylmalonic acidemia	HP:0002912
5052	PRDX1	Megaloblastic anemia	HP:0001889
5052	PRDX1	Intellectual disability	HP:0001249
5052	PRDX1	Seizures	HP:0001250
5052	PRDX1	Muscular hypotonia	HP:0001252
5052	PRDX1	Failure to thrive	HP:0001508
5052	PRDX1	Lethargy	HP:0001254
5052	PRDX1	Feeding difficulties in infancy	HP:0008872
5052	PRDX1	Homocystinuria	HP:0002156
5052	PRDX1	Hydrocephalus	HP:0000238
5052	PRDX1	Global developmental delay	HP:0001263
5052	PRDX1	Reduced visual acuity	HP:0007663
5052	PRDX1	Hyperhomocystinemia	HP:0002160
5052	PRDX1	Nephropathy	HP:0000112
5052	PRDX1	Low-set ears	HP:0000369
5052	PRDX1	Thromboembolism	HP:0001907
5052	PRDX1	Visual impairment	HP:0000505
5052	PRDX1	Tremor	HP:0001337
5052	PRDX1	Microcephaly	HP:0000252
5052	PRDX1	Smooth philtrum	HP:0000319
5052	PRDX1	Nystagmus	HP:0000639
54205	CYCS	Thrombocytopenia	HP:0001873
54205	CYCS	Autosomal dominant inheritance	HP:0000006
5053	PAH	Maternal hyperphenylalaninemia	HP:0100610
5053	PAH	Clinodactyly	HP:0030084
5053	PAH	Brachydactyly	HP:0001156
5053	PAH	Cataract	HP:0000518
5053	PAH	Autosomal recessive inheritance	HP:0000007
5053	PAH	Bifid distal phalanx of the thumb	HP:0009611
5053	PAH	Hypoplastic helices	HP:0008589
5053	PAH	Coarctation of aorta	HP:0001680
5053	PAH	Bladder exstrophy	HP:0002836
5053	PAH	Motor deterioration	HP:0002333
5053	PAH	Epicanthus	HP:0000286
5053	PAH	Hypoplastic left heart	HP:0004383
5053	PAH	Hypoplasia of the corpus callosum	HP:0002079
5053	PAH	Wide nasal bridge	HP:0000431
5053	PAH	Abnormal renal morphology	HP:0012210
5053	PAH	Memory impairment	HP:0002354
5053	PAH	Paraplegia	HP:0010550
5053	PAH	Double outlet right ventricle	HP:0001719
5053	PAH	Phenylpyruvic acidemia	HP:0004920
5053	PAH	Tremor	HP:0001337
5053	PAH	Hyperphenylalaninemia	HP:0004923
5053	PAH	Deviated nasal septum	HP:0004411
5053	PAH	Dry skin	HP:0000958
5053	PAH	Hyperreflexia	HP:0001347
5053	PAH	Eczema	HP:0000964
5053	PAH	Psychosis	HP:0000709
5053	PAH	Lack of skin elasticity	HP:0100679
5053	PAH	Depressivity	HP:0000716
5053	PAH	Autism	HP:0000717
5053	PAH	Aggressive behavior	HP:0000718
5053	PAH	Abnormal facial shape	HP:0001999
5053	PAH	Anteverted nares	HP:0000463
5053	PAH	Bilateral ptosis	HP:0001488
5053	PAH	Cerebral calcification	HP:0002514
5053	PAH	Obsessive-compulsive behavior	HP:0000722
5053	PAH	Increased level of hippuric acid in urine	HP:0410066
5053	PAH	Sloping forehead	HP:0000340
5053	PAH	Long philtrum	HP:0000343
5053	PAH	Generalized hypopigmentation	HP:0007513
5053	PAH	Hypotelorism	HP:0000601
5053	PAH	High palate	HP:0000218
5053	PAH	Micrognathia	HP:0000347
5053	PAH	Ventricular septal defect	HP:0001629
5053	PAH	Reduced phenylalanine hydroxylase activity	HP:0005982
5053	PAH	Hypopigmentation of hair	HP:0005599
5053	PAH	Intellectual disability	HP:0001249
5053	PAH	Irritability	HP:0000737
5053	PAH	Nausea and vomiting	HP:0002017
5053	PAH	Seizures	HP:0001250
5053	PAH	Anxiety	HP:0000739
5053	PAH	Tetralogy of Fallot	HP:0001636
5053	PAH	Scleroderma	HP:0100324
5053	PAH	Self-mutilation	HP:0000742
5053	PAH	Strabismus	HP:0000486
5053	PAH	Growth delay	HP:0001510
5053	PAH	Intrauterine growth retardation	HP:0001511
5053	PAH	Attention deficit hyperactivity disorder	HP:0007018
5053	PAH	Self-injurious behavior	HP:0100716
5053	PAH	Fair hair	HP:0002286
5053	PAH	Global developmental delay	HP:0001263
5053	PAH	Esophageal atresia	HP:0002032
5053	PAH	Hyperactivity	HP:0000752
5053	PAH	Intellectual disability, severe	HP:0010864
5053	PAH	Hypopigmentation of the skin	HP:0001010
5053	PAH	Blue irides	HP:0000635
5053	PAH	Microcephaly	HP:0000252
5053	PAH	Hypertonia	HP:0001276
5053	PAH	Hemiplegia	HP:0002301
5053	PAH	Prenatal maternal abnormality	HP:0002686
5054	SERPINE1	Menorrhagia	HP:0000132
5054	SERPINE1	Autosomal dominant inheritance	HP:0000006
5054	SERPINE1	Autosomal recessive inheritance	HP:0000007
5054	SERPINE1	Congenital onset	HP:0003577
54209	TREM2	Collectionism	HP:0030212
54209	TREM2	Emotional blunting	HP:0030213
54209	TREM2	Gait disturbance	HP:0001288
54209	TREM2	Confusion	HP:0001289
54209	TREM2	Semantic dementia	HP:0030219
54209	TREM2	Arthralgia	HP:0002829
54209	TREM2	Visual agnosia	HP:0030222
54209	TREM2	Perseveration	HP:0030223
54209	TREM2	Parkinsonism	HP:0001300
54209	TREM2	Generalized tonic-clonic seizures	HP:0002069
54209	TREM2	Abnormality of extrapyramidal motor function	HP:0002071
54209	TREM2	Chorea	HP:0002072
54209	TREM2	Dyslexia	HP:0010522
54209	TREM2	Alexia	HP:0010523
54209	TREM2	Agnosia	HP:0010524
54209	TREM2	Finger agnosia	HP:0010525
54209	TREM2	Dysgraphia	HP:0010526
54209	TREM2	Bone cyst	HP:0012062
54209	TREM2	Echolalia	HP:0010529
54209	TREM2	Abnormality of epiphysis morphology	HP:0005930
54209	TREM2	Dyspnea	HP:0002094
54209	TREM2	Memory impairment	HP:0002354
54209	TREM2	Dysphasia	HP:0002357
54209	TREM2	Myoclonus	HP:0001336
54209	TREM2	Abnormal lower motor neuron morphology	HP:0002366
54209	TREM2	Respiratory failure	HP:0002878
54209	TREM2	Anomia	HP:0030784
54209	TREM2	Grammar-specific speech disorder	HP:0006977
54209	TREM2	Muscle spasm	HP:0003394
54209	TREM2	Loss of speech	HP:0002371
54209	TREM2	Hyperreflexia	HP:0001347
54209	TREM2	Ventriculomegaly	HP:0002119
54209	TREM2	Cerebral cortical atrophy	HP:0002120
54209	TREM2	Developmental regression	HP:0002376
54209	TREM2	Fasciculations	HP:0002380
54209	TREM2	Aphasia	HP:0002381
54209	TREM2	Laryngospasm	HP:0025425
54209	TREM2	Fatigue	HP:0012378
54209	TREM2	Skeletal dysplasia	HP:0002652
54209	TREM2	Bone pain	HP:0002653
54209	TREM2	Limitation of joint mobility	HP:0001376
54209	TREM2	Frontotemporal dementia	HP:0002145
54209	TREM2	Abnormal brain FDG positron emission tomography	HP:0012658
54209	TREM2	Neurological speech impairment	HP:0002167
54209	TREM2	Motor aphasia	HP:0002427
54209	TREM2	Abulia	HP:0012671
54209	TREM2	Skeletal muscle atrophy	HP:0003202
54209	TREM2	Neurodegeneration	HP:0002180
54209	TREM2	Neurofibrillary tangles	HP:0002185
54209	TREM2	Dyscalculia	HP:0002442
54209	TREM2	Apraxia	HP:0002186
54209	TREM2	Astrocytosis	HP:0002446
54209	TREM2	Paralysis	HP:0003470
54209	TREM2	Abnormal social behavior	HP:0012433
54209	TREM2	Oculomotor apraxia	HP:0000657
54209	TREM2	Brain atrophy	HP:0012444
54209	TREM2	Language impairment	HP:0002463
54209	TREM2	Poor speech	HP:0002465
54209	TREM2	Senile plaques	HP:0100256
54209	TREM2	Abnormal adipose tissue morphology	HP:0009124
54209	TREM2	Functional abnormality of the gastrointestinal tract	HP:0012719
54209	TREM2	Spoken Word Recognition Deficit	HP:0030391
54209	TREM2	Acute leukemia	HP:0002488
54209	TREM2	Amyotrophic lateral sclerosis	HP:0007354
54209	TREM2	Upper motor neuron dysfunction	HP:0002493
54209	TREM2	EEG with continuous slow activity	HP:0011204
54209	TREM2	Abnormality of the cerebral white matter	HP:0002500
54209	TREM2	Psychosis	HP:0000709
54209	TREM2	Hyperorality	HP:0000710
54209	TREM2	Restlessness	HP:0000711
54209	TREM2	Temporal cortical atrophy	HP:0007112
54209	TREM2	Emotional lability	HP:0000712
54209	TREM2	Agitation	HP:0000713
54209	TREM2	Depressivity	HP:0000716
54209	TREM2	Aggressive behavior	HP:0000718
54209	TREM2	Deposits immunoreactive to beta-amyloid protein	HP:0003791
54209	TREM2	Inappropriate behavior	HP:0000719
54209	TREM2	Cerebral calcification	HP:0002514
54209	TREM2	Restrictive behavior	HP:0000723
54209	TREM2	Dementia	HP:0000726
54209	TREM2	Frontal lobe dementia	HP:0000727
54209	TREM2	Xerostomia	HP:0000217
54209	TREM2	Thickened nuchal skin fold	HP:0000474
54209	TREM2	Stereotypy	HP:0000733
54209	TREM2	Disinhibition	HP:0000734
54209	TREM2	Intellectual disability	HP:0001249
54209	TREM2	Irritability	HP:0000737
54209	TREM2	Nausea and vomiting	HP:0002017
54209	TREM2	Hallucinations	HP:0000738
54209	TREM2	Seizures	HP:0001250
54209	TREM2	Ataxia	HP:0001251
54209	TREM2	Anxiety	HP:0000739
54209	TREM2	Apathy	HP:0000741
54209	TREM2	Spasticity	HP:0001257
54209	TREM2	Frontotemporal cerebral atrophy	HP:0006892
54209	TREM2	Hydrocephalus	HP:0000238
54209	TREM2	Personality changes	HP:0000751
54209	TREM2	Fatigable weakness of swallowing muscles	HP:0030195
54209	TREM2	Pain	HP:0012531
54209	TREM2	Fatigable weakness of respiratory muscles	HP:0030196
54209	TREM2	Lack of insight	HP:0000757
54209	TREM2	Abnormality of vision	HP:0000504
54209	TREM2	Hypertonia	HP:0001276
54209	TREM2	Mutism	HP:0002300
54209	TREM2	Generalized muscle weakness	HP:0003324
54209	TREM2	Reduced bone mineral density	HP:0004349
5058	PAK1	Delayed myelination	HP:0012448
5058	PAK1	Delayed ability to walk	HP:0031936
5058	PAK1	Poor speech	HP:0002465
5058	PAK1	Seizures	HP:0001250
5058	PAK1	Gastroesophageal reflux	HP:0002020
5058	PAK1	Recurrent hypoglycemia	HP:0001988
5058	PAK1	Autosomal dominant inheritance	HP:0000006
5058	PAK1	Infantile onset	HP:0003593
5058	PAK1	Deeply set eye	HP:0000490
5058	PAK1	Periventricular white matter hyperdensities	HP:0030891
5058	PAK1	Unsteady gait	HP:0002317
5058	PAK1	Esodeviation	HP:0020045
5058	PAK1	Global developmental delay	HP:0001263
5058	PAK1	Receptive language delay	HP:0010863
5058	PAK1	Intellectual disability, severe	HP:0010864
5058	PAK1	Broad forehead	HP:0000337
5058	PAK1	Gait ataxia	HP:0002066
5058	PAK1	Long face	HP:0000276
5058	PAK1	Motor delay	HP:0001270
5058	PAK1	Frontal bossing	HP:0002007
5063	PAK3	Short attention span	HP:0000736
5063	PAK3	Intellectual disability	HP:0001249
5063	PAK3	Open mouth	HP:0000194
5063	PAK3	Seizures	HP:0001250
5063	PAK3	Anxiety	HP:0000739
5063	PAK3	Drooling	HP:0002307
5063	PAK3	Psychosis	HP:0000709
5063	PAK3	Restlessness	HP:0000711
5063	PAK3	Agitation	HP:0000713
5063	PAK3	X-linked recessive inheritance	HP:0001419
5063	PAK3	Aggressive behavior	HP:0000718
5063	PAK3	Delayed speech and language development	HP:0000750
5063	PAK3	Anteverted nares	HP:0000463
5063	PAK3	Macrotia	HP:0000400
5063	PAK3	Hyperactivity	HP:0000752
5063	PAK3	Flat face	HP:0012368
5063	PAK3	Delayed gross motor development	HP:0002194
5063	PAK3	Variable expressivity	HP:0003828
5063	PAK3	High palate	HP:0000218
5063	PAK3	Thin upper lip vermilion	HP:0000219
5063	PAK3	Microcephaly	HP:0000252
5063	PAK3	Short nose	HP:0003196
5071	PRKN	Hyperreflexia	HP:0001347
5071	PRKN	Autosomal dominant inheritance	HP:0000006
5071	PRKN	Autosomal recessive inheritance	HP:0000007
5071	PRKN	Gait disturbance	HP:0001288
5071	PRKN	Dysgerminoma	HP:0100621
5071	PRKN	Rigidity	HP:0002063
5071	PRKN	Bradykinesia	HP:0002067
5071	PRKN	Abnormality of metabolism/homeostasis	HP:0001939
5071	PRKN	Somatic mutation	HP:0001428
5071	PRKN	Dystonia	HP:0001332
5071	PRKN	Parkinsonism	HP:0001300
5071	PRKN	Ovarian papillary adenocarcinoma	HP:0006774
5071	PRKN	Alveolar cell carcinoma	HP:0006519
5071	PRKN	Substantia nigra gliosis	HP:0011960
5071	PRKN	Tremor	HP:0001337
5071	PRKN	Breast carcinoma	HP:0003002
5071	PRKN	Postural instability	HP:0002172
5071	PRKN	Adult onset	HP:0003581
5073	PARN	Aplastic/hypoplastic toenail	HP:0010624
5073	PARN	Aplasia/Hypoplasia of the skin	HP:0008065
5073	PARN	Abnormal blistering of the skin	HP:0008066
5073	PARN	Avascular necrosis	HP:0010885
5073	PARN	Autosomal dominant inheritance	HP:0000006
5073	PARN	Cataract	HP:0000518
5073	PARN	Sparse hair	HP:0008070
5073	PARN	Autosomal recessive inheritance	HP:0000007
5073	PARN	Abnormality of coagulation	HP:0001928
5073	PARN	Abnormality of female internal genitalia	HP:0000008
5073	PARN	Infantile onset	HP:0003593
5073	PARN	Hypermelanotic macule	HP:0001034
5073	PARN	Tracheoesophageal fistula	HP:0002575
5073	PARN	Generalized hyperpigmentation	HP:0007440
5073	PARN	Displacement of the urethral meatus	HP:0100627
5073	PARN	Clubbing of fingers	HP:0100759
5073	PARN	Abnormal eyebrow morphology	HP:0000534
5073	PARN	Bone marrow hypocellularity	HP:0005528
5073	PARN	Hypodontia	HP:0000668
5073	PARN	Recurrent respiratory infections	HP:0002205
5073	PARN	Hypopigmented skin patches	HP:0001053
5073	PARN	Pulmonary fibrosis	HP:0002206
5073	PARN	Carious teeth	HP:0000670
5073	PARN	Immunodeficiency	HP:0002721
5073	PARN	Sparse scalp hair	HP:0002209
5073	PARN	Abnormal testis morphology	HP:0000035
5073	PARN	Taurodontia	HP:0000679
5073	PARN	Premature graying of hair	HP:0002216
5073	PARN	Cerebellar hypoplasia	HP:0001321
5073	PARN	Osteoporosis	HP:0000939
5073	PARN	Reticular pattern on pulmonary HRCT	HP:0025390
5073	PARN	Diabetes mellitus	HP:0000819
5073	PARN	Oral leukoplakia	HP:0002745
5073	PARN	Exertional dyspnea	HP:0002875
5073	PARN	Anorectal anomaly	HP:0012732
5073	PARN	Alopecia	HP:0001596
5073	PARN	Bronchiectasis	HP:0002110
5073	PARN	Cough	HP:0012735
5073	PARN	Rough bone trabeculation	HP:0100670
5073	PARN	Hepatomegaly	HP:0002240
5073	PARN	Periodontitis	HP:0000704
5073	PARN	Recurrent fractures	HP:0002757
5073	PARN	Ventriculomegaly	HP:0002119
5073	PARN	Hypoplasia of the maxilla	HP:0000327
5073	PARN	Cerebral cortical atrophy	HP:0002120
5073	PARN	Pulmonary insufficiency	HP:0010444
5073	PARN	Neoplasm of the pancreas	HP:0002894
5073	PARN	Abnormal fingernail morphology	HP:0001231
5073	PARN	Hyperhidrosis	HP:0000975
5073	PARN	Splenomegaly	HP:0001744
5073	PARN	Thrombocytopenia	HP:0001873
5073	PARN	Cerebral calcification	HP:0002514
5073	PARN	Esophageal stenosis	HP:0010450
5073	PARN	Abnormality of neutrophils	HP:0001874
5073	PARN	Nail dystrophy	HP:0008404
5073	PARN	Urethral stenosis	HP:0008661
5073	PARN	Palmoplantar keratoderma	HP:0000982
5073	PARN	Honeycomb lung	HP:0025175
5073	PARN	Abnormality of the pharynx	HP:0000600
5073	PARN	Abnormal leukocyte morphology	HP:0001881
5073	PARN	Scoliosis	HP:0002650
5073	PARN	Ground-glass opacification on pulmonary HRCT	HP:0025179
5073	PARN	Generalized hypopigmentation of hair	HP:0011358
5073	PARN	Excessive wrinkled skin	HP:0007392
5073	PARN	Intellectual disability	HP:0001249
5073	PARN	Short stature	HP:0004322
5073	PARN	Ataxia	HP:0001251
5073	PARN	Failure to thrive	HP:0001508
5073	PARN	Gastroesophageal reflux	HP:0002020
5073	PARN	White hair	HP:0011364
5073	PARN	Skin vesicle	HP:0200037
5073	PARN	Intrauterine growth retardation	HP:0001511
5073	PARN	Neoplasm	HP:0002664
5073	PARN	Malabsorption	HP:0002024
5073	PARN	Telangiectasia of the skin	HP:0100585
5073	PARN	Abnormality of skin pigmentation	HP:0001000
5073	PARN	Skin ulcer	HP:0200042
5073	PARN	Lymphoma	HP:0002665
5073	PARN	Hearing impairment	HP:0000365
5073	PARN	Dermal atrophy	HP:0004334
5073	PARN	Crackles	HP:0030830
5073	PARN	Anemia	HP:0001903
5073	PARN	Global developmental delay	HP:0001263
5073	PARN	Hyporeflexia	HP:0001265
5073	PARN	Blepharitis	HP:0000498
5073	PARN	Cirrhosis	HP:0001394
5073	PARN	Abnormal eyelash morphology	HP:0000499
5073	PARN	Variable expressivity	HP:0003828
5073	PARN	Incomplete penetrance	HP:0003829
5073	PARN	Hepatic failure	HP:0001399
5073	PARN	Hypertonia	HP:0001276
5073	PARN	Microcephaly	HP:0000252
5073	PARN	Adult onset	HP:0003581
5073	PARN	Cellular immunodeficiency	HP:0005374
5075	PAX1	Hyperreflexia	HP:0001347
5075	PAX1	Facial asymmetry	HP:0000324
5075	PAX1	Clinodactyly	HP:0030084
5075	PAX1	Autosomal recessive inheritance	HP:0000007
5075	PAX1	Mastoiditis	HP:0000265
5075	PAX1	Abnormality of the antihelix	HP:0009738
5075	PAX1	Alacrima	HP:0000522
5075	PAX1	Anteverted nares	HP:0000463
5075	PAX1	Macrotia	HP:0000400
5075	PAX1	Blue sclerae	HP:0000592
5075	PAX1	Conductive hearing impairment	HP:0000405
5075	PAX1	Down-sloping shoulders	HP:0200021
5075	PAX1	High palate	HP:0000218
5075	PAX1	Mixed hearing impairment	HP:0000410
5075	PAX1	Protruding ear	HP:0000411
5075	PAX1	Atresia of the external auditory canal	HP:0000413
5075	PAX1	Tapered finger	HP:0001182
5075	PAX1	Carious teeth	HP:0000670
5075	PAX1	Depressed nasal bridge	HP:0005280
5075	PAX1	Intellectual disability	HP:0001249
5075	PAX1	Short stature	HP:0004322
5075	PAX1	Full cheeks	HP:0000293
5075	PAX1	Renal hypoplasia/aplasia	HP:0008678
5075	PAX1	Intellectual disability, moderate	HP:0002342
5075	PAX1	Scapular winging	HP:0003691
5075	PAX1	Global developmental delay	HP:0001263
5075	PAX1	Low-set ears	HP:0000369
5075	PAX1	Dental malocclusion	HP:0000689
5075	PAX1	Preauricular pit	HP:0004467
5075	PAX1	Microretrognathia	HP:0000308
5075	PAX1	Abnormal dermatoglyphics	HP:0007477
5075	PAX1	Neurological speech impairment	HP:0002167
5075	PAX1	Abnormality of the clavicle	HP:0000889
5075	PAX1	Hypertonia	HP:0001276
5075	PAX1	Delayed skeletal maturation	HP:0002750
5075	PAX1	Lacrimal duct stenosis	HP:0007678
5076	PAX2	Multicystic kidney dysplasia	HP:0000003
5076	PAX2	Optic nerve dysplasia	HP:0001093
5076	PAX2	Autosomal dominant inheritance	HP:0000006
5076	PAX2	Cataract	HP:0000518
5076	PAX2	Edema	HP:0000969
5076	PAX2	Infantile onset	HP:0003593
5076	PAX2	Vesicoureteral reflux	HP:0000076
5076	PAX2	Optic nerve coloboma	HP:0000588
5076	PAX2	Hyperextensible skin	HP:0000974
5076	PAX2	Soft skin	HP:0000977
5076	PAX2	Nephrolithiasis	HP:0000787
5076	PAX2	Renal insufficiency	HP:0000083
5076	PAX2	Chorioretinal atrophy	HP:0000533
5076	PAX2	Horseshoe kidney	HP:0000085
5076	PAX2	Sensorineural hearing impairment	HP:0000407
5076	PAX2	Renal hypoplasia	HP:0000089
5076	PAX2	Proteinuria	HP:0000093
5076	PAX2	Retinal detachment	HP:0000541
5076	PAX2	Retinal coloboma	HP:0000480
5076	PAX2	Macular degeneration	HP:0000608
5076	PAX2	Intellectual disability	HP:0001249
5076	PAX2	Myopia	HP:0000545
5076	PAX2	Focal segmental glomerulosclerosis	HP:0000097
5076	PAX2	Seizures	HP:0001250
5076	PAX2	Nephrotic syndrome	HP:0000100
5076	PAX2	Strabismus	HP:0000486
5076	PAX2	Renal malrotation	HP:0004712
5076	PAX2	Morning glory anomaly	HP:0025514
5076	PAX2	Joint laxity	HP:0001388
5076	PAX2	Hearing impairment	HP:0000365
5076	PAX2	Renal dysplasia	HP:0000110
5076	PAX2	Lens luxation	HP:0012019
5076	PAX2	Variable expressivity	HP:0003828
5076	PAX2	Macular hyperpigmentation	HP:0011509
5076	PAX2	Incomplete penetrance	HP:0003829
5076	PAX2	Orbital cyst	HP:0001144
5076	PAX2	Microphthalmia	HP:0000568
5076	PAX2	Visual impairment	HP:0000505
5076	PAX2	Gliosis	HP:0002171
5076	PAX2	Arnold-Chiari type I malformation	HP:0007099
5076	PAX2	Joint hyperflexibility	HP:0005692
5076	PAX2	Stage 5 chronic kidney disease	HP:0003774
5076	PAX2	Nystagmus	HP:0000639
5077	PAX3	Joint contracture of the hand	HP:0009473
5077	PAX3	Supernumerary vertebrae	HP:0002946
5077	PAX3	Meningocele	HP:0002435
5077	PAX3	Clinodactyly	HP:0030084
5077	PAX3	Brachydactyly	HP:0001156
5077	PAX3	Autosomal dominant inheritance	HP:0000006
5077	PAX3	Autosomal recessive inheritance	HP:0000007
5077	PAX3	Camptodactyly of finger	HP:0100490
5077	PAX3	Atelectasis	HP:0100750
5077	PAX3	Ulnar deviation of the hand	HP:0009487
5077	PAX3	Sprengel anomaly	HP:0000912
5077	PAX3	Malar flattening	HP:0000272
5077	PAX3	Narrow face	HP:0000275
5077	PAX3	Partial albinism	HP:0007443
5077	PAX3	Sensorineural hearing impairment	HP:0000407
5077	PAX3	Synophrys	HP:0000664
5077	PAX3	Hypopigmented skin patches	HP:0001053
5077	PAX3	Depressed nasal bridge	HP:0005280
5077	PAX3	Narrow mouth	HP:0000160
5077	PAX3	White forelock	HP:0002211
5077	PAX3	Acrocyanosis	HP:0001063
5077	PAX3	Premature graying of hair	HP:0002216
5077	PAX3	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
5077	PAX3	Prominent nasal bridge	HP:0000426
5077	PAX3	Myelomeningocele	HP:0002475
5077	PAX3	Autosomal dominant contiguous gene syndrome	HP:0001452
5077	PAX3	Underdeveloped nasal alae	HP:0000430
5077	PAX3	Mandibular prognathia	HP:0000303
5077	PAX3	Wide nasal bridge	HP:0000431
5077	PAX3	Cleft palate	HP:0000175
5077	PAX3	White eyebrow	HP:0002226
5077	PAX3	Aplasia of the vagina	HP:0003250
5077	PAX3	White eyelashes	HP:0002227
5077	PAX3	Tented upper lip vermilion	HP:0010804
5077	PAX3	Lacrimal duct atresia	HP:0000564
5077	PAX3	Hypoplastic iris stroma	HP:0007990
5077	PAX3	Supernumerary ribs	HP:0005815
5077	PAX3	Synostosis of carpal bones	HP:0005048
5077	PAX3	Cutaneous finger syndactyly	HP:0010554
5077	PAX3	Hypertelorism	HP:0000316
5077	PAX3	Thick eyebrow	HP:0000574
5077	PAX3	Narrow nasal bridge	HP:0000446
5077	PAX3	Smooth philtrum	HP:0000319
5077	PAX3	Aplasia/Hypoplasia involving the nose	HP:0009924
5077	PAX3	Blepharophimosis	HP:0000581
5077	PAX3	Hypoplasia of the maxilla	HP:0000327
5077	PAX3	Depressed nasal ridge	HP:0000457
5077	PAX3	Oral cleft	HP:0000202
5077	PAX3	Aganglionic megacolon	HP:0002251
5077	PAX3	Heterochromia iridis	HP:0001100
5077	PAX3	Cleft upper lip	HP:0000204
5077	PAX3	Congenital sensorineural hearing impairment	HP:0008527
5077	PAX3	Flat face	HP:0012368
5077	PAX3	Hypopigmentation of the fundus	HP:0007894
5077	PAX3	Abnormality of cardiovascular system morphology	HP:0030680
5077	PAX3	Scoliosis	HP:0002650
5077	PAX3	Tracheomalacia	HP:0002779
5077	PAX3	Atrial septal defect	HP:0001631
5077	PAX3	Intellectual disability	HP:0001249
5077	PAX3	White hair	HP:0011364
5077	PAX3	Carpal synostosis	HP:0009702
5077	PAX3	Strabismus	HP:0000486
5077	PAX3	Ulnar deviation of the wrist	HP:0003049
5077	PAX3	Spastic paraplegia	HP:0001258
5077	PAX3	Joint stiffness	HP:0001387
5077	PAX3	Scapular winging	HP:0003691
5077	PAX3	Hearing impairment	HP:0000365
5077	PAX3	Downslanted palpebral fissures	HP:0000494
5077	PAX3	Spina bifida	HP:0002414
5077	PAX3	Variable expressivity	HP:0003828
5077	PAX3	Lacrimation abnormality	HP:0000632
5077	PAX3	Abnormality of vision	HP:0000504
5077	PAX3	Ulnar deviation of finger	HP:0009465
5077	PAX3	Telecanthus	HP:0000506
5077	PAX3	Blue irides	HP:0000635
5077	PAX3	Alveolar rhabdomyosarcoma	HP:0006779
5077	PAX3	Microcephaly	HP:0000252
5077	PAX3	Short nose	HP:0003196
5077	PAX3	Ptosis	HP:0000508
5078	PAX4	Late onset	HP:0003584
5078	PAX4	Autosomal dominant inheritance	HP:0000006
5078	PAX4	Insulin resistance	HP:0000855
5078	PAX4	Maturity-onset diabetes of the young	HP:0004904
5078	PAX4	Type II diabetes mellitus	HP:0005978
5078	PAX4	Decreased waist to hip ratio	HP:0031820
5080	PAX6	Abnormality of the uterus	HP:0000130
5080	PAX6	Abnormal involuntary eye movements	HP:0012547
5080	PAX6	Dysfunction of lateral corticospinal tracts	HP:0007299
5080	PAX6	Autosomal dominant inheritance	HP:0000006
5080	PAX6	Cataract	HP:0000518
5080	PAX6	Amblyopia	HP:0000646
5080	PAX6	Autosomal recessive inheritance	HP:0000007
5080	PAX6	Optic atrophy	HP:0000648
5080	PAX6	Increased proinsulin:insulin ratio	HP:0031883
5080	PAX6	Presenile cataracts	HP:0007819
5080	PAX6	Subcapsular cataract	HP:0000523
5080	PAX6	Aniridia	HP:0000526
5080	PAX6	Abnormal vagina morphology	HP:0000142
5080	PAX6	Generalized hyperpigmentation	HP:0007440
5080	PAX6	Displacement of the urethral meatus	HP:0100627
5080	PAX6	Peters anomaly	HP:0000659
5080	PAX6	Somatic mutation	HP:0001428
5080	PAX6	Corneal opacity	HP:0007957
5080	PAX6	Congenital nystagmus	HP:0006934
5080	PAX6	Gonadoblastoma	HP:0000150
5080	PAX6	Abnormality of retinal pigmentation	HP:0007703
5080	PAX6	Pseudopapilledema	HP:0000538
5080	PAX6	Cryptorchidism	HP:0000028
5080	PAX6	Retinal detachment	HP:0000541
5080	PAX6	Peripheral vitreous opacities	HP:0007710
5080	PAX6	Hypoplasia of the corpus callosum	HP:0002079
5080	PAX6	Glucose intolerance	HP:0001952
5080	PAX6	Remnants of the hyaloid vascular system	HP:0007968
5080	PAX6	Morning glory anomaly	HP:0025514
5080	PAX6	Mask-like facies	HP:0000298
5080	PAX6	Hypospadias	HP:0000047
5080	PAX6	EEG abnormality	HP:0002353
5080	PAX6	Chorioretinal coloboma	HP:0000567
5080	PAX6	Thinning of Descemet membrane	HP:0031159
5080	PAX6	Abnormality of movement	HP:0100022
5080	PAX6	Microphthalmia	HP:0000568
5080	PAX6	Contiguous gene syndrome	HP:0001466
5080	PAX6	Visual loss	HP:0000572
5080	PAX6	Ambiguous genitalia	HP:0000062
5080	PAX6	Abnormality of the pulmonary artery	HP:0004414
5080	PAX6	Developmental glaucoma	HP:0001087
5080	PAX6	Hypoplasia of the fovea	HP:0007750
5080	PAX6	Abnormal best corrected visual acuity test	HP:0030534
5080	PAX6	Ventriculomegaly	HP:0002119
5080	PAX6	Optic nerve coloboma	HP:0000588
5080	PAX6	Vesicoureteral reflux	HP:0000076
5080	PAX6	Polymicrogyria	HP:0002126
5080	PAX6	Opacification of the corneal stroma	HP:0007759
5080	PAX6	Renal insufficiency	HP:0000083
5080	PAX6	Neurodevelopmental delay	HP:0012758
5080	PAX6	Optic disc hypoplasia	HP:0007766
5080	PAX6	Unilateral microphthalmos	HP:0011480
5080	PAX6	Scoliosis	HP:0002650
5080	PAX6	Anterior synechiae of the anterior chamber	HP:0011483
5080	PAX6	Micrognathia	HP:0000347
5080	PAX6	Streak ovary	HP:0010464
5080	PAX6	Optic nerve hypoplasia	HP:0000609
5080	PAX6	Intellectual disability	HP:0001249
5080	PAX6	Short stature	HP:0004322
5080	PAX6	Ataxia	HP:0001251
5080	PAX6	Muscular hypotonia	HP:0001252
5080	PAX6	Central opacification of the cornea	HP:0011493
5080	PAX6	Strabismus	HP:0000486
5080	PAX6	Growth delay	HP:0001510
5080	PAX6	Everted lower lip vermilion	HP:0000232
5080	PAX6	Obesity	HP:0001513
5080	PAX6	Optic nerve aplasia	HP:0012521
5080	PAX6	Nephroblastoma	HP:0002667
5080	PAX6	Keratitis	HP:0000491
5080	PAX6	Hearing abnormality	HP:0000364
5080	PAX6	Reduced visual acuity	HP:0007663
5080	PAX6	Global developmental delay	HP:0001263
5080	PAX6	Nephropathy	HP:0000112
5080	PAX6	Glaucoma	HP:0000501
5080	PAX6	Aplasia/Hypoplasia of the iris	HP:0008053
5080	PAX6	Abnormality of vision	HP:0000504
5080	PAX6	Scanning speech	HP:0002168
5080	PAX6	Visual impairment	HP:0000505
5080	PAX6	Aplasia/Hypoplasia of the macula	HP:0008059
5080	PAX6	Abnormality of the optic disc	HP:0012795
5080	PAX6	Microcephaly	HP:0000252
5080	PAX6	Ptosis	HP:0000508
5080	PAX6	Nystagmus	HP:0000639
5081	PAX7	Autosomal recessive inheritance	HP:0000007
5081	PAX7	Alveolar rhabdomyosarcoma	HP:0006779
5083	PAX9	Microdontia	HP:0000691
5083	PAX9	Oligodontia	HP:0000677
5083	PAX9	Autosomal dominant inheritance	HP:0000006
5083	PAX9	Hypoplasia of the maxilla	HP:0000327
5083	PAX9	Micrognathia	HP:0000347
5087	PBX1	Thickened helices	HP:0000391
5087	PBX1	Hypoplastic helices	HP:0008589
5087	PBX1	Anteverted nares	HP:0000463
5087	PBX1	Anteverted ears	HP:0040080
5087	PBX1	Deep philtrum	HP:0002002
5087	PBX1	Renal insufficiency	HP:0000083
5087	PBX1	Narrow face	HP:0000275
5087	PBX1	Long face	HP:0000276
5087	PBX1	Bifid ureter	HP:0030037
5087	PBX1	Horseshoe kidney	HP:0000085
5087	PBX1	Ectopic kidney	HP:0000086
5087	PBX1	Renal hypoplasia	HP:0000089
5087	PBX1	Cryptorchidism	HP:0000028
5087	PBX1	Epicanthus	HP:0000286
5087	PBX1	Strabismus	HP:0000486
5087	PBX1	Microtia	HP:0008551
5087	PBX1	Renal agenesis	HP:0000104
5087	PBX1	Hearing impairment	HP:0000365
5087	PBX1	Renal dysplasia	HP:0000110
5087	PBX1	Delayed speech and language development	HP:0000750
5087	PBX1	Wide nasal bridge	HP:0000431
5087	PBX1	Global developmental delay	HP:0001263
5087	PBX1	Hyperechogenic kidneys	HP:0004719
5087	PBX1	Low-set ears	HP:0000369
5087	PBX1	Variable expressivity	HP:0003828
5087	PBX1	Motor delay	HP:0001270
5087	PBX1	Micropenis	HP:0000054
5087	PBX1	Dilatation	HP:0002617
5087	PBX1	Decreased numbers of nephrons	HP:0005563
5087	PBX1	Ambiguous genitalia	HP:0000062
5091	PC	Hepatomegaly	HP:0002240
5091	PC	Proximal renal tubular acidosis	HP:0002049
5091	PC	Intellectual disability	HP:0001249
5091	PC	Seizures	HP:0001250
5091	PC	Muscular hypotonia	HP:0001252
5091	PC	Autosomal recessive inheritance	HP:0000007
5091	PC	Increased serum lactate	HP:0002151
5091	PC	Generalized hypotonia	HP:0001290
5091	PC	Psychomotor retardation	HP:0025356
5091	PC	Leukodystrophy	HP:0002415
5091	PC	Global developmental delay	HP:0001263
5091	PC	Hyperalaninemia	HP:0003348
5091	PC	Increased serum pyruvate	HP:0003542
5091	PC	Neuronal loss in the cerebral cortex	HP:0007190
5091	PC	Hypoglycemia	HP:0001943
5091	PC	Lactic acidosis	HP:0003128
5091	PC	Clonus	HP:0002169
5091	PC	Congenital onset	HP:0003577
5091	PC	Periventricular leukomalacia	HP:0006970
5092	PCBD1	Muscular hypotonia	HP:0001252
5092	PCBD1	Motor delay	HP:0001270
5092	PCBD1	Autosomal recessive inheritance	HP:0000007
5092	PCBD1	Tremor	HP:0001337
5092	PCBD1	Transient hyperphenylalaninemia	HP:0008297
5092	PCBD1	Generalized hypotonia	HP:0001290
5092	PCBD1	Hyperphenylalaninemia	HP:0004923
5092	PCBD1	Hypertonia	HP:0001276
5095	PCCA	Hepatomegaly	HP:0002240
5095	PCCA	Hyperammonemia	HP:0001987
5095	PCCA	Eczema	HP:0000964
5095	PCCA	Pancreatitis	HP:0001733
5095	PCCA	Autosomal recessive inheritance	HP:0000007
5095	PCCA	Organic aciduria	HP:0001992
5095	PCCA	Cerebral atrophy	HP:0002059
5095	PCCA	Psychomotor retardation	HP:0025356
5095	PCCA	Limb hypertonia	HP:0002509
5095	PCCA	Thrombocytopenia	HP:0001873
5095	PCCA	Neutropenia	HP:0001875
5095	PCCA	Pancytopenia	HP:0001876
5095	PCCA	Increased level of hippuric acid in urine	HP:0410066
5095	PCCA	Metabolic acidosis	HP:0001942
5095	PCCA	Hypoglycemia	HP:0001943
5095	PCCA	Dehydration	HP:0001944
5095	PCCA	Propionyl-CoA carboxylase deficiency	HP:0003353
5095	PCCA	Arrhythmia	HP:0011675
5095	PCCA	Vomiting	HP:0002013
5095	PCCA	Intellectual disability	HP:0001249
5095	PCCA	Seizures	HP:0001250
5095	PCCA	Short stature	HP:0004322
5095	PCCA	Abnormality of immune system physiology	HP:0010978
5095	PCCA	Constipation	HP:0002019
5095	PCCA	Failure to thrive	HP:0001508
5095	PCCA	Hyperglycinuria	HP:0003108
5095	PCCA	Tachypnea	HP:0002789
5095	PCCA	Cardiomyopathy	HP:0001638
5095	PCCA	Lethargy	HP:0001254
5095	PCCA	Muscular hypotonia of the trunk	HP:0008936
5095	PCCA	Feeding difficulties in infancy	HP:0008872
5095	PCCA	Hyperglycinemia	HP:0002154
5095	PCCA	Coma	HP:0001259
5095	PCCA	Osteoporosis	HP:0000939
5095	PCCA	Poor appetite	HP:0004396
5095	PCCA	Anemia	HP:0001903
5095	PCCA	Global developmental delay	HP:0001263
5095	PCCA	Cerebellar hemorrhage	HP:0011695
5095	PCCA	Dystonia	HP:0001332
5095	PCCA	Lactic acidosis	HP:0003128
5095	PCCA	Apnea	HP:0002104
5095	PCCA	Acute encephalopathy	HP:0006846
5096	PCCB	Hepatomegaly	HP:0002240
5096	PCCB	Hyperammonemia	HP:0001987
5096	PCCB	Eczema	HP:0000964
5096	PCCB	Pancreatitis	HP:0001733
5096	PCCB	Autosomal recessive inheritance	HP:0000007
5096	PCCB	Organic aciduria	HP:0001992
5096	PCCB	Cerebral atrophy	HP:0002059
5096	PCCB	Psychomotor retardation	HP:0025356
5096	PCCB	Limb hypertonia	HP:0002509
5096	PCCB	Thrombocytopenia	HP:0001873
5096	PCCB	Neutropenia	HP:0001875
5096	PCCB	Pancytopenia	HP:0001876
5096	PCCB	Increased level of hippuric acid in urine	HP:0410066
5096	PCCB	Metabolic acidosis	HP:0001942
5096	PCCB	Hypoglycemia	HP:0001943
5096	PCCB	Dehydration	HP:0001944
5096	PCCB	Propionyl-CoA carboxylase deficiency	HP:0003353
5096	PCCB	Arrhythmia	HP:0011675
5096	PCCB	Vomiting	HP:0002013
5096	PCCB	Intellectual disability	HP:0001249
5096	PCCB	Seizures	HP:0001250
5096	PCCB	Short stature	HP:0004322
5096	PCCB	Abnormality of immune system physiology	HP:0010978
5096	PCCB	Constipation	HP:0002019
5096	PCCB	Failure to thrive	HP:0001508
5096	PCCB	Hyperglycinuria	HP:0003108
5096	PCCB	Tachypnea	HP:0002789
5096	PCCB	Cardiomyopathy	HP:0001638
5096	PCCB	Lethargy	HP:0001254
5096	PCCB	Muscular hypotonia of the trunk	HP:0008936
5096	PCCB	Feeding difficulties in infancy	HP:0008872
5096	PCCB	Hyperglycinemia	HP:0002154
5096	PCCB	Coma	HP:0001259
5096	PCCB	Osteoporosis	HP:0000939
5096	PCCB	Poor appetite	HP:0004396
5096	PCCB	Anemia	HP:0001903
5096	PCCB	Global developmental delay	HP:0001263
5096	PCCB	Cerebellar hemorrhage	HP:0011695
5096	PCCB	Dystonia	HP:0001332
5096	PCCB	Lactic acidosis	HP:0003128
5096	PCCB	Apnea	HP:0002104
5096	PCCB	Acute encephalopathy	HP:0006846
5105	PCK1	Hepatomegaly	HP:0002240
5105	PCK1	Cyanosis	HP:0000961
5105	PCK1	Seizures	HP:0001250
5105	PCK1	Autosomal recessive inheritance	HP:0000007
5105	PCK1	Ketonuria	HP:0002919
5105	PCK1	Impaired gluconeogenesis	HP:0005959
5105	PCK1	Optic atrophy	HP:0000648
5105	PCK1	Infantile onset	HP:0003593
5105	PCK1	Cerebral atrophy	HP:0002059
5105	PCK1	Global developmental delay	HP:0001263
5105	PCK1	Hepatic encephalopathy	HP:0002480
5105	PCK1	EEG abnormality	HP:0002353
5105	PCK1	Low plasma citrulline	HP:0003572
5105	PCK1	Hepatic steatosis	HP:0001397
5105	PCK1	Hepatic failure	HP:0001399
5105	PCK1	Hypoglycemia	HP:0001943
5105	PCK1	Lactic acidosis	HP:0003128
5105	PCK1	Apnea	HP:0002104
5105	PCK1	Fasting hypoglycemia	HP:0003162
5105	PCK1	Renal steatosis	HP:0000799
5106	PCK2	Hepatic steatosis	HP:0001397
5106	PCK2	Impaired gluconeogenesis	HP:0005959
5106	PCK2	Hypoglycemia	HP:0001943
5106	PCK2	Autosomal recessive inheritance	HP:0000007
5106	PCK2	Hepatic failure	HP:0001399
5106	PCK2	Renal steatosis	HP:0000799
5111	PCNA	Cutaneous photosensitivity	HP:0000992
5111	PCNA	Pes cavus	HP:0001761
5111	PCNA	Short stature	HP:0004322
5111	PCNA	Ataxia	HP:0001251
5111	PCNA	Neurodegeneration	HP:0002180
5111	PCNA	Photophobia	HP:0000613
5111	PCNA	Autosomal recessive inheritance	HP:0000007
5111	PCNA	Dysarthria	HP:0001260
5111	PCNA	Conjunctival telangiectasia	HP:0000524
5111	PCNA	Unsteady gait	HP:0002317
5111	PCNA	Global developmental delay	HP:0001263
5111	PCNA	Cerebellar atrophy	HP:0001272
5111	PCNA	Progressive muscle weakness	HP:0003323
5111	PCNA	Flexion contracture	HP:0001371
5111	PCNA	Microcephaly	HP:0000252
5111	PCNA	Progressive	HP:0003676
5111	PCNA	Dysphagia	HP:0002015
340990	OTOG	Hyporeflexia	HP:0001265
340990	OTOG	Autosomal recessive inheritance	HP:0000007
340990	OTOG	Hearing impairment	HP:0000365
5116	PCNT	Narrow chest	HP:0000774
5116	PCNT	Autosomal recessive inheritance	HP:0000007
5116	PCNT	Stroke	HP:0001297
5116	PCNT	Narrow face	HP:0000275
5116	PCNT	Retrognathia	HP:0000278
5116	PCNT	Slender long bone	HP:0003100
5116	PCNT	Hypermetropia	HP:0000540
5116	PCNT	Hypopigmented skin patches	HP:0001053
5116	PCNT	Hypoplasia of the corpus callosum	HP:0002079
5116	PCNT	Full cheeks	HP:0000293
5116	PCNT	Abnormality of epiphysis morphology	HP:0005930
5116	PCNT	Hypospadias	HP:0000047
5116	PCNT	Hypoplastic iliac wing	HP:0002866
5116	PCNT	Short 1st metacarpal	HP:0010034
5116	PCNT	Abnormality of female external genitalia	HP:0000055
5116	PCNT	Dilatation	HP:0002617
5116	PCNT	Precocious puberty	HP:0000826
5116	PCNT	Moyamoya phenomenon	HP:0011834
5116	PCNT	Sandal gap	HP:0001852
5116	PCNT	Joint hyperflexibility	HP:0005692
5116	PCNT	Proximal femoral epiphysiolysis	HP:0006461
5116	PCNT	Laryngomalacia	HP:0001601
5116	PCNT	Upslanted palpebral fissure	HP:0000582
5116	PCNT	Prematurely aged appearance	HP:0007495
5116	PCNT	Ventriculomegaly	HP:0002119
5116	PCNT	Nasal speech	HP:0001611
5116	PCNT	Reduced number of teeth	HP:0009804
5116	PCNT	Mild global developmental delay	HP:0011342
5116	PCNT	Dilatation of the cerebral artery	HP:0004944
5116	PCNT	Craniosynostosis	HP:0001363
5116	PCNT	Cone-shaped epiphysis	HP:0010579
5116	PCNT	Sloping forehead	HP:0000340
5116	PCNT	High pitched voice	HP:0001620
5116	PCNT	Ivory epiphyses	HP:0010583
5116	PCNT	Scoliosis	HP:0002650
5116	PCNT	Type II diabetes mellitus	HP:0005978
5116	PCNT	Micrognathia	HP:0000347
5116	PCNT	Atrial septal defect	HP:0001631
5116	PCNT	Limited elbow extension	HP:0001377
5116	PCNT	Microtia	HP:0008551
5116	PCNT	Hip dysplasia	HP:0001385
5116	PCNT	Attention deficit hyperactivity disorder	HP:0007018
5116	PCNT	Patent ductus arteriosus	HP:0001643
5116	PCNT	Anemia	HP:0001903
5116	PCNT	Clinodactyly of the 5th finger	HP:0004209
5116	PCNT	Low-set ears	HP:0000369
5116	PCNT	Hypoplastic scapulae	HP:0000882
5116	PCNT	Long clavicles	HP:0000890
5116	PCNT	Large sella turcica	HP:0002690
5116	PCNT	Absent earlobe	HP:0000387
5116	PCNT	Brachydactyly	HP:0001156
5116	PCNT	Multiple cafe-au-lait spots	HP:0007565
5116	PCNT	Sensorineural hearing impairment	HP:0000407
5116	PCNT	Hypoplasia of dental enamel	HP:0006297
5116	PCNT	Short distal phalanx of finger	HP:0009882
5116	PCNT	Recurrent respiratory infections	HP:0002205
5116	PCNT	Sparse scalp hair	HP:0002209
5116	PCNT	Truncal obesity	HP:0001956
5116	PCNT	Fine hair	HP:0002213
5116	PCNT	Distal symphalangism	HP:0100263
5116	PCNT	Tibial bowing	HP:0002982
5116	PCNT	Micromelia	HP:0002983
5116	PCNT	Abnormality of dental enamel	HP:0000682
5116	PCNT	Radial bowing	HP:0002986
5116	PCNT	Disproportionate short stature	HP:0003498
5116	PCNT	Prominent nasal bridge	HP:0000426
5116	PCNT	Underdeveloped nasal alae	HP:0000430
5116	PCNT	Wide nasal bridge	HP:0000431
5116	PCNT	Abnormality of the metaphysis	HP:0000944
5116	PCNT	Aplasia/Hypoplasia of the earlobes	HP:0009906
5116	PCNT	Microdontia	HP:0000691
5116	PCNT	Straight clavicles	HP:0006587
5116	PCNT	Short middle phalanx of finger	HP:0005819
5116	PCNT	Convex nasal ridge	HP:0000444
5116	PCNT	Cafe-au-lait spot	HP:0000957
5116	PCNT	Delayed skeletal maturation	HP:0002750
5116	PCNT	Cognitive impairment	HP:0100543
5116	PCNT	Dry skin	HP:0000958
5116	PCNT	Prominent nose	HP:0000448
5116	PCNT	Arterial stenosis	HP:0100545
5116	PCNT	Postnatal growth retardation	HP:0008897
5116	PCNT	Flared metaphysis	HP:0003015
5116	PCNT	Narrow pelvis bone	HP:0003275
5116	PCNT	Ulnar bowing	HP:0003031
5116	PCNT	Tracheal stenosis	HP:0002777
5116	PCNT	Intellectual disability	HP:0001249
5116	PCNT	Narrow palpebral fissure	HP:0045025
5116	PCNT	Short stature	HP:0004322
5116	PCNT	Seizures	HP:0001250
5116	PCNT	Cachexia	HP:0004326
5116	PCNT	Intrauterine growth retardation	HP:0001511
5116	PCNT	Pseudoepiphyses of the metacarpals	HP:0009193
5116	PCNT	Aplasia/Hypoplasia of the eyebrow	HP:0100840
5116	PCNT	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines	HP:0007402
5116	PCNT	Downslanted palpebral fissures	HP:0000494
5116	PCNT	Global developmental delay	HP:0001263
5116	PCNT	Glaucoma	HP:0000501
5116	PCNT	Thin clavicles	HP:0006645
5116	PCNT	Microcephaly	HP:0000252
5116	PCNT	Coxa vara	HP:0002812
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	Intellectual disability	HP:0001249
5119	CHMP1A	Myopia	HP:0000545
5119	CHMP1A	Pes cavus	HP:0001761
5119	CHMP1A	Poor speech	HP:0002465
5119	CHMP1A	Cerebral visual impairment	HP:0100704
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
283652	SLC24A5	Abnormal iris pigmentation	HP:0008034
283652	SLC24A5	Abnormal foveal morphology on macular OCT	HP:0030613
283652	SLC24A5	Photophobia	HP:0000613
283652	SLC24A5	Hypoplasia of the fovea	HP:0007750
283652	SLC24A5	Autosomal dominant inheritance	HP:0000006
283652	SLC24A5	Autosomal recessive inheritance	HP:0000007
283652	SLC24A5	Generalized hypopigmentation	HP:0007513
283652	SLC24A5	Aplasia/Hypoplasia of the macula	HP:0008059
283652	SLC24A5	Abnormal hair morphology	HP:0001595
283652	SLC24A5	Nystagmus	HP:0000639
283652	SLC24A5	Reduced visual acuity	HP:0007663
5122	PCSK1	Hyperinsulinemia	HP:0000842
5122	PCSK1	Villous atrophy	HP:0011473
5122	PCSK1	Primary amenorrhea	HP:0000786
5122	PCSK1	Reactive hypoglycemia	HP:0012051
5122	PCSK1	Childhood-onset truncal obesity	HP:0008915
5122	PCSK1	Gonadotropin deficiency	HP:0008213
5122	PCSK1	Central adrenal insufficiency	HP:0011734
5122	PCSK1	Diarrhea	HP:0002014
5122	PCSK1	Polyphagia	HP:0002591
5122	PCSK1	Sporadic	HP:0003745
5122	PCSK1	Decreased circulating cortisol level	HP:0008163
5122	PCSK1	Failure to thrive	HP:0001508
5122	PCSK1	Increased adipose tissue	HP:0009126
5122	PCSK1	Malabsorption	HP:0002024
5122	PCSK1	Obesity	HP:0001513
5122	PCSK1	Hypogonadotrophic hypogonadism	HP:0000044
5122	PCSK1	Hypopigmentation of the skin	HP:0001010
5122	PCSK1	Cholestasis	HP:0001396
5122	PCSK1	Pituitary hypothyroidism	HP:0008245
5122	PCSK1	Delayed puberty	HP:0000823
5122	PCSK1	Growth hormone deficiency	HP:0000824
5122	PCSK1	Red hair	HP:0002297
5122	PCSK1	Acanthosis nigricans	HP:0000956
5122	PCSK1	Hypoglycemic seizures	HP:0002173
5122	PCSK1	Delayed skeletal maturation	HP:0002750
644096	SDHAF1	Ragged-red muscle fibers	HP:0003200
644096	SDHAF1	Mild microcephaly	HP:0040196
644096	SDHAF1	Spastic tetraparesis	HP:0001285
644096	SDHAF1	Autosomal recessive inheritance	HP:0000007
644096	SDHAF1	Optic atrophy	HP:0000648
644096	SDHAF1	Infantile onset	HP:0003593
644096	SDHAF1	Spastic paraparesis	HP:0002313
644096	SDHAF1	Generalized hypotonia	HP:0001290
644096	SDHAF1	Noncompaction cardiomyopathy	HP:0012817
644096	SDHAF1	Hyperactive deep tendon reflexes	HP:0006801
644096	SDHAF1	Motor deterioration	HP:0002333
644096	SDHAF1	Abnormal atrioventricular conduction	HP:0005150
644096	SDHAF1	Babinski sign	HP:0003487
644096	SDHAF1	External ophthalmoplegia	HP:0000544
644096	SDHAF1	Weight loss	HP:0001824
644096	SDHAF1	Stress/infection-induced lactic acidosis	HP:0004897
644096	SDHAF1	Neonatal hypotonia	HP:0001319
644096	SDHAF1	Feeding difficulties in infancy	HP:0008872
644096	SDHAF1	Left ventricular dysfunction	HP:0005162
644096	SDHAF1	Expressive language delay	HP:0002474
644096	SDHAF1	Hyperactive patellar reflex	HP:0007083
644096	SDHAF1	Muscle weakness	HP:0001324
644096	SDHAF1	Skeletal myopathy	HP:0003756
644096	SDHAF1	Loss of ability to walk	HP:0006957
644096	SDHAF1	Left ventricular hypertrophy	HP:0001712
644096	SDHAF1	Dystonia	HP:0001332
644096	SDHAF1	Severe short stature	HP:0003510
644096	SDHAF1	Hyperreflexia in upper limbs	HP:0007350
644096	SDHAF1	Frequent falls	HP:0002359
644096	SDHAF1	Myoclonus	HP:0001336
644096	SDHAF1	Easy fatigability	HP:0003388
644096	SDHAF1	Cognitive impairment	HP:0100543
644096	SDHAF1	Hyperreflexia	HP:0001347
644096	SDHAF1	Progressive leukoencephalopathy	HP:0006980
644096	SDHAF1	Pigmentary retinopathy	HP:0000580
644096	SDHAF1	Developmental regression	HP:0002376
644096	SDHAF1	Generalized myoclonic seizures	HP:0002123
644096	SDHAF1	Vesicoureteral reflux	HP:0000076
644096	SDHAF1	Moderate global developmental delay	HP:0011343
644096	SDHAF1	Increased intramyocellular lipid droplets	HP:0012240
644096	SDHAF1	Dementia	HP:0000726
644096	SDHAF1	Ophthalmoplegia	HP:0000602
644096	SDHAF1	Exercise intolerance	HP:0003546
644096	SDHAF1	Left ventricular noncompaction	HP:0030682
644096	SDHAF1	Flexion contracture	HP:0001371
644096	SDHAF1	Irritability	HP:0000737
644096	SDHAF1	Short stature	HP:0004322
644096	SDHAF1	Seizures	HP:0001250
644096	SDHAF1	Ataxia	HP:0001251
644096	SDHAF1	Hypertrophic cardiomyopathy	HP:0001639
644096	SDHAF1	Increased serum lactate	HP:0002151
644096	SDHAF1	Intrauterine growth retardation	HP:0001511
644096	SDHAF1	Segmental myoclonic seizures	HP:0025191
644096	SDHAF1	Progressive psychomotor deterioration	HP:0007272
644096	SDHAF1	Spasticity	HP:0001257
644096	SDHAF1	Blindness	HP:0000618
644096	SDHAF1	Dilated cardiomyopathy	HP:0001644
644096	SDHAF1	Knee flexion contracture	HP:0006380
644096	SDHAF1	Distal amyotrophy	HP:0003693
644096	SDHAF1	Lower limb hypertonia	HP:0006895
644096	SDHAF1	Poor head control	HP:0002421
644096	SDHAF1	Proximal muscle weakness	HP:0003701
644096	SDHAF1	Motor delay	HP:0001270
644096	SDHAF1	Visual impairment	HP:0000505
644096	SDHAF1	Decreased activity of mitochondrial complex II	HP:0008314
644096	SDHAF1	Ptosis	HP:0000508
644096	SDHAF1	Abnormal mitochondria in muscle tissue	HP:0008316
644096	SDHAF1	Generalized muscle weakness	HP:0003324
644096	SDHAF1	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	Color vision defect	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	Severely reduced visual acuity	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
5137	PDE1C	Hearing impairment	HP:0000365
5139	PDE3A	Short metacarpal	HP:0010049
5139	PDE3A	Short stature	HP:0004322
5139	PDE3A	Cone-shaped epiphysis	HP:0010579
5139	PDE3A	Brachydactyly	HP:0001156
5139	PDE3A	Autosomal dominant inheritance	HP:0000006
5139	PDE3A	Hypertension	HP:0000822
5139	PDE3A	Short phalanx of finger	HP:0009803
144406	WDR66	Infertility	HP:0000789
5144	PDE4D	Narrow vertebral interpedicular distance	HP:0008450
5144	PDE4D	Brachydactyly	HP:0001156
5144	PDE4D	Autosomal dominant inheritance	HP:0000006
5144	PDE4D	Hypogonadism	HP:0000135
5144	PDE4D	Malar flattening	HP:0000272
5144	PDE4D	Midface retrusion	HP:0011800
5144	PDE4D	Cryptorchidism	HP:0000028
5144	PDE4D	Epicanthus	HP:0000286
5144	PDE4D	Hypoplastic vertebral bodies	HP:0008479
5144	PDE4D	Epiphyseal stippling	HP:0010655
5144	PDE4D	Depressed nasal bridge	HP:0005280
5144	PDE4D	Hypoplasia of the nasal bone	HP:0004646
5144	PDE4D	Short toe	HP:0001831
5144	PDE4D	Micromelia	HP:0002983
5144	PDE4D	Hypoplasia of the radius	HP:0002984
5144	PDE4D	Delayed eruption of teeth	HP:0000684
5144	PDE4D	Mild short stature	HP:0003502
5144	PDE4D	Hypospadias	HP:0000047
5144	PDE4D	Mandibular prognathia	HP:0000303
5144	PDE4D	Wide nasal bridge	HP:0000431
5144	PDE4D	Specific learning disability	HP:0001328
5144	PDE4D	Congenital craniofacial dysostosis	HP:0008497
5144	PDE4D	Diabetes mellitus	HP:0000819
5144	PDE4D	Round face	HP:0000311
5144	PDE4D	Abnormality of female external genitalia	HP:0000055
5144	PDE4D	Open bite	HP:0010807
5144	PDE4D	Growth hormone deficiency	HP:0000824
5144	PDE4D	Cerebral venous thrombosis	HP:0005305
5144	PDE4D	Hypertelorism	HP:0000316
5144	PDE4D	Abnormality of the nail	HP:0001597
5144	PDE4D	Short metacarpal	HP:0010049
5144	PDE4D	Open mouth	HP:0000194
5144	PDE4D	Hypoplasia of the maxilla	HP:0000327
5144	PDE4D	Elevated calcitonin	HP:0003528
5144	PDE4D	Depressed nasal ridge	HP:0000457
5144	PDE4D	Short phalanx of finger	HP:0009803
5144	PDE4D	Autism	HP:0000717
5144	PDE4D	Absent/hypoplastic paranasal sinuses	HP:0005453
5144	PDE4D	Hypoplasia of the ulna	HP:0003022
5144	PDE4D	Anteverted nares	HP:0000463
5144	PDE4D	Congenital hypothyroidism	HP:0000851
5144	PDE4D	Cone-shaped epiphysis	HP:0010579
5144	PDE4D	Pseudohypoparathyroidism	HP:0000852
5144	PDE4D	Increased intracranial pressure	HP:0002516
5144	PDE4D	Hypocalcemia	HP:0002901
5144	PDE4D	Spinal canal stenosis	HP:0003416
5144	PDE4D	Hyperphosphatemia	HP:0002905
5144	PDE4D	Scoliosis	HP:0002650
5144	PDE4D	Menstrual irregularities	HP:0000858
5144	PDE4D	Elevated circulating parathyroid hormone level	HP:0003165
5144	PDE4D	Intellectual disability	HP:0001249
5144	PDE4D	Abnormality of immune system physiology	HP:0010978
5144	PDE4D	Short stature	HP:0004322
5144	PDE4D	Melanocytic nevus	HP:0000995
5144	PDE4D	Peripheral neuropathy	HP:0009830
5144	PDE4D	Intrauterine growth retardation	HP:0001511
5144	PDE4D	Obesity	HP:0001513
5144	PDE4D	Hearing impairment	HP:0000365
5144	PDE4D	Fair hair	HP:0002286
5144	PDE4D	Delayed speech and language development	HP:0000750
5144	PDE4D	Global developmental delay	HP:0001263
5144	PDE4D	Hyperactivity	HP:0000752
5144	PDE4D	Accelerated skeletal maturation	HP:0005616
5144	PDE4D	Abnormal form of the vertebral bodies	HP:0003312
5144	PDE4D	Short metatarsal	HP:0010743
5144	PDE4D	Brachycephaly	HP:0000248
5144	PDE4D	Red hair	HP:0002297
5144	PDE4D	Congenital onset	HP:0003577
5144	PDE4D	Blue irides	HP:0000635
5144	PDE4D	Short nose	HP:0003196
5145	PDE6A	Abnormal electroretinogram	HP:0000512
5145	PDE6A	Hyperreflexia	HP:0001347
5145	PDE6A	Pigmentary retinopathy	HP:0000580
5145	PDE6A	Cataract	HP:0000518
5145	PDE6A	Hypogonadism	HP:0000135
5145	PDE6A	Autosomal recessive inheritance	HP:0000007
5145	PDE6A	Optic atrophy	HP:0000648
5145	PDE6A	Hyperinsulinemia	HP:0000842
5145	PDE6A	Anteverted nares	HP:0000463
5145	PDE6A	Conductive hearing impairment	HP:0000405
5145	PDE6A	Nyctalopia	HP:0000662
5145	PDE6A	Sensorineural hearing impairment	HP:0000407
5145	PDE6A	Abnormality of retinal pigmentation	HP:0007703
5145	PDE6A	Ophthalmoplegia	HP:0000602
5145	PDE6A	Type II diabetes mellitus	HP:0005978
5145	PDE6A	Atypical scarring of skin	HP:0000987
5145	PDE6A	Optic disc pallor	HP:0000543
5145	PDE6A	Hypoplasia of penis	HP:0008736
5145	PDE6A	Intellectual disability	HP:0001249
5145	PDE6A	Abnormal testis morphology	HP:0000035
5145	PDE6A	Attenuation of retinal blood vessels	HP:0007843
5145	PDE6A	Photophobia	HP:0000613
5145	PDE6A	Obesity	HP:0001513
5145	PDE6A	Blindness	HP:0000618
5145	PDE6A	Abnormal retinal vascular morphology	HP:0008046
5145	PDE6A	Wide nasal bridge	HP:0000431
5145	PDE6A	Keratoconus	HP:0000563
5145	PDE6A	Glaucoma	HP:0000501
5145	PDE6A	Peripheral visual field loss	HP:0007994
5145	PDE6A	Progressive night blindness	HP:0007675
5145	PDE6A	Rod-cone dystrophy	HP:0000510
5145	PDE6A	Nystagmus	HP:0000639
5146	PDE6C	Abnormal electroretinogram	HP:0000512
5146	PDE6C	Exotropia	HP:0000577
5146	PDE6C	Attenuation of retinal blood vessels	HP:0007843
5146	PDE6C	Blue cone monochromacy	HP:0007939
5146	PDE6C	Cone/cone-rod dystrophy	HP:0000548
5146	PDE6C	Photophobia	HP:0000613
5146	PDE6C	Hypoplasia of the fovea	HP:0007750
5146	PDE6C	Autosomal recessive inheritance	HP:0000007
5146	PDE6C	Color vision defect	HP:0000551
5146	PDE6C	Retinal pigment epithelial atrophy	HP:0007722
5146	PDE6C	Pendular nystagmus	HP:0012043
5146	PDE6C	Reduced visual acuity	HP:0007663
5146	PDE6C	Granular macular appearance	HP:0007793
5146	PDE6C	Abnormality of retinal pigmentation	HP:0007703
5146	PDE6C	Dyschromatopsia	HP:0007641
5146	PDE6C	Visual impairment	HP:0000505
5146	PDE6C	Central scotoma	HP:0000603
5146	PDE6C	Hypermetropia	HP:0000540
5146	PDE6C	Nystagmus	HP:0000639
5147	PDE6D	Central Y-shaped metacarpal	HP:0006145
5147	PDE6D	Brachydactyly	HP:0001156
5147	PDE6D	Autosomal recessive inheritance	HP:0000007
5147	PDE6D	Syndactyly	HP:0001159
5147	PDE6D	Gait disturbance	HP:0001288
5147	PDE6D	Hand polydactyly	HP:0001161
5147	PDE6D	Postaxial hand polydactyly	HP:0001162
5147	PDE6D	Generalized hypotonia	HP:0001290
5147	PDE6D	Hypothalamic hamartoma	HP:0002444
5147	PDE6D	Long face	HP:0000276
5147	PDE6D	Conductive hearing impairment	HP:0000405
5147	PDE6D	Hamartoma of tongue	HP:0011802
5147	PDE6D	Epicanthus	HP:0000286
5147	PDE6D	Preaxial polydactyly	HP:0100258
5147	PDE6D	Retinal dysplasia	HP:0007973
5147	PDE6D	Foot polydactyly	HP:0001829
5147	PDE6D	Mesoaxial polydactyly	HP:0100260
5147	PDE6D	Undetectable electroretinogram	HP:0000550
5147	PDE6D	Feeding difficulties in infancy	HP:0008872
5147	PDE6D	Cerebellar vermis hypoplasia	HP:0001320
5147	PDE6D	Prominent nasal bridge	HP:0000426
5147	PDE6D	Cleft palate	HP:0000175
5147	PDE6D	Lobulated tongue	HP:0000180
5147	PDE6D	Esotropia	HP:0000565
5147	PDE6D	Microphthalmia	HP:0000568
5147	PDE6D	Apnea	HP:0002104
5147	PDE6D	Tremor	HP:0001337
5147	PDE6D	Hypertelorism	HP:0000316
5147	PDE6D	Episodic tachypnea	HP:0002876
5147	PDE6D	Abnormal oral frenulum morphology	HP:0000190
5147	PDE6D	Biparietal narrowing	HP:0004422
5147	PDE6D	Tongue nodules	HP:0000199
5147	PDE6D	Broad nasal tip	HP:0000455
5147	PDE6D	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
5147	PDE6D	Coloboma	HP:0000589
5147	PDE6D	Abnormal facial shape	HP:0001999
5147	PDE6D	Finger clinodactyly	HP:0040019
5147	PDE6D	Frontal bossing	HP:0002007
5147	PDE6D	Renal hypoplasia	HP:0000089
5147	PDE6D	High palate	HP:0000218
5147	PDE6D	Micrognathia	HP:0000347
5147	PDE6D	Abnormal heart morphology	HP:0001627
5147	PDE6D	Abnormality of neuronal migration	HP:0002269
5147	PDE6D	Intellectual disability	HP:0001249
5147	PDE6D	Seizures	HP:0001250
5147	PDE6D	Short stature	HP:0004322
5147	PDE6D	Ataxia	HP:0001251
5147	PDE6D	Failure to thrive	HP:0001508
5147	PDE6D	Intrauterine growth retardation	HP:0001511
5147	PDE6D	Renal agenesis	HP:0000104
5147	PDE6D	Global developmental delay	HP:0001263
5147	PDE6D	Low-set, posteriorly rotated ears	HP:0000368
5147	PDE6D	Bilateral cryptorchidism	HP:0008689
5147	PDE6D	Molar tooth sign on MRI	HP:0002419
5147	PDE6D	Highly arched eyebrow	HP:0002553
5147	PDE6D	Midline notch of upper alveolar ridge	HP:0009084
5147	PDE6D	Hypoplasia of olfactory tract	HP:0007036
5147	PDE6D	Nystagmus	HP:0000639
5148	PDE6G	Abnormal electroretinogram	HP:0000512
5148	PDE6G	Hyperreflexia	HP:0001347
5148	PDE6G	Cataract	HP:0000518
5148	PDE6G	Autosomal dominant inheritance	HP:0000006
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	X-linked recessive inheritance	HP:0001419
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	Ophthalmoplegia	HP:0000602
5148	PDE6G	Type II diabetes mellitus	HP:0005978
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	Abnormal testis morphology	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	Abnormal retinal vascular morphology	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	Abnormality of fundus pigmentation	HP:0031605
5148	PDE6G	Progressive night blindness	HP:0007675
5148	PDE6G	Rod-cone dystrophy	HP:0000510
5148	PDE6G	Nystagmus	HP:0000639
5149	PDE6H	Abnormal electroretinogram	HP:0000512
5149	PDE6H	Exotropia	HP:0000577
5149	PDE6H	Attenuation of retinal blood vessels	HP:0007843
5149	PDE6H	Blue cone monochromacy	HP:0007939
5149	PDE6H	Cone/cone-rod dystrophy	HP:0000548
5149	PDE6H	Photophobia	HP:0000613
5149	PDE6H	Autosomal dominant inheritance	HP:0000006
5149	PDE6H	Hypoplasia of the fovea	HP:0007750
5149	PDE6H	Autosomal recessive inheritance	HP:0000007
5149	PDE6H	Retinal pigment epithelial atrophy	HP:0007722
5149	PDE6H	Pendular nystagmus	HP:0012043
5149	PDE6H	Reduced visual acuity	HP:0007663
5149	PDE6H	Granular macular appearance	HP:0007793
5149	PDE6H	Cone dystrophy	HP:0008020
5149	PDE6H	Nyctalopia	HP:0000662
5149	PDE6H	Dyschromatopsia	HP:0007641
5149	PDE6H	Central scotoma	HP:0000603
5149	PDE6H	Hypermetropia	HP:0000540
5149	PDE6H	Nystagmus	HP:0000639
5155	PDGFB	Athetosis	HP:0002305
5155	PDGFB	Neoplasm of the skin	HP:0008069
5155	PDGFB	Autosomal dominant inheritance	HP:0000006
5155	PDGFB	Gait disturbance	HP:0001288
5155	PDGFB	Subcutaneous hemorrhage	HP:0001933
5155	PDGFB	Rigidity	HP:0002063
5155	PDGFB	Vertigo	HP:0002321
5155	PDGFB	Bradykinesia	HP:0002067
5155	PDGFB	Parkinsonism	HP:0001300
5155	PDGFB	Urinary incontinence	HP:0000020
5155	PDGFB	Corneal opacity	HP:0007957
5155	PDGFB	Fibrosarcoma	HP:0100244
5155	PDGFB	Chorea	HP:0002072
5155	PDGFB	Dysdiadochokinesis	HP:0002075
5155	PDGFB	Migraine	HP:0002076
5155	PDGFB	Dense calcifications in the cerebellar dentate nucleus	HP:0002461
5155	PDGFB	Erythema	HP:0010783
5155	PDGFB	Micrographia	HP:0031908
5155	PDGFB	Meningioma	HP:0002858
5155	PDGFB	Mask-like facies	HP:0000298
5155	PDGFB	Thickened skin	HP:0001072
5155	PDGFB	Memory impairment	HP:0002354
5155	PDGFB	Dystonia	HP:0001332
5155	PDGFB	Dyskinesia	HP:0100660
5155	PDGFB	Tremor	HP:0001337
5155	PDGFB	Hepatomegaly	HP:0002240
5155	PDGFB	Motor tics	HP:0100034
5155	PDGFB	Hyperreflexia	HP:0001347
5155	PDGFB	Psychosis	HP:0000709
5155	PDGFB	Ventriculomegaly	HP:0002119
5155	PDGFB	Calcification of the small brain vessels	HP:0002504
5155	PDGFB	Subcutaneous nodule	HP:0001482
5155	PDGFB	Depressivity	HP:0000716
5155	PDGFB	Thrombocytopenia	HP:0001873
5155	PDGFB	Cerebral calcification	HP:0002514
5155	PDGFB	Dementia	HP:0000726
5155	PDGFB	Basal ganglia calcification	HP:0002135
5155	PDGFB	Abnormal pyramidal sign	HP:0007256
5155	PDGFB	Progressive	HP:0003676
5155	PDGFB	Abnormality of neuronal migration	HP:0002269
5155	PDGFB	Seizures	HP:0001250
5155	PDGFB	Anxiety	HP:0000739
5155	PDGFB	Apathy	HP:0000741
5155	PDGFB	Limb dysmetria	HP:0002406
5155	PDGFB	Intrauterine growth retardation	HP:0001511
5155	PDGFB	Skin ulcer	HP:0200042
5155	PDGFB	Dysarthria	HP:0001260
5155	PDGFB	Mental deterioration	HP:0001268
5155	PDGFB	Incomplete penetrance	HP:0003829
5155	PDGFB	Microcephaly	HP:0000252
5155	PDGFB	Postural instability	HP:0002172
5155	PDGFB	Adult onset	HP:0003581
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	Nausea and vomiting	HP:0002017
5156	PDGFRA	Neoplasm of the stomach	HP:0006753
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	Neoplasm of the colon	HP:0100273
5156	PDGFRA	Abnormality of the liver	HP:0001392
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
5157	PDGFRL	Heterogeneous	HP:0001425
5157	PDGFRL	Somatic mutation	HP:0001428
5157	PDGFRL	Micronodular cirrhosis	HP:0001413
5157	PDGFRL	Autosomal dominant inheritance	HP:0000006
5157	PDGFRL	Hepatocellular carcinoma	HP:0001402
5157	PDGFRL	Subacute progressive viral hepatitis	HP:0006572
5158	PDE6B	Abnormal electroretinogram	HP:0000512
5158	PDE6B	Abnormality of macular pigmentation	HP:0008002
5158	PDE6B	Abnormal light- and dark-adapted electroretinogram	HP:0008323
5158	PDE6B	Hyperreflexia	HP:0001347
5158	PDE6B	Autosomal dominant inheritance	HP:0000006
5158	PDE6B	Cataract	HP:0000518
5158	PDE6B	Autosomal recessive inheritance	HP:0000007
5158	PDE6B	Hypogonadism	HP:0000135
5158	PDE6B	Optic atrophy	HP:0000648
5158	PDE6B	Hyperinsulinemia	HP:0000842
5158	PDE6B	Anteverted nares	HP:0000463
5158	PDE6B	Conductive hearing impairment	HP:0000405
5158	PDE6B	Optic disc hypoplasia	HP:0007766
5158	PDE6B	Nyctalopia	HP:0000662
5158	PDE6B	Sensorineural hearing impairment	HP:0000407
5158	PDE6B	Abnormality of retinal pigmentation	HP:0007703
5158	PDE6B	Congenital stationary night blindness	HP:0007642
5158	PDE6B	Ophthalmoplegia	HP:0000602
5158	PDE6B	Type II diabetes mellitus	HP:0005978
5158	PDE6B	Atypical scarring of skin	HP:0000987
5158	PDE6B	Hypoplasia of penis	HP:0008736
5158	PDE6B	Intellectual disability	HP:0001249
5158	PDE6B	Abnormal testis morphology	HP:0000035
5158	PDE6B	Photophobia	HP:0000613
5158	PDE6B	Strabismus	HP:0000486
5158	PDE6B	Obesity	HP:0001513
5158	PDE6B	Blindness	HP:0000618
5158	PDE6B	Abnormal retinal vascular morphology	HP:0008046
5158	PDE6B	Wide nasal bridge	HP:0000431
5158	PDE6B	Reduced visual acuity	HP:0007663
5158	PDE6B	Keratoconus	HP:0000563
5158	PDE6B	Glaucoma	HP:0000501
5158	PDE6B	Progressive night blindness	HP:0007675
5158	PDE6B	High myopia	HP:0011003
5158	PDE6B	Rod-cone dystrophy	HP:0000510
5158	PDE6B	Nystagmus	HP:0000639
5159	PDGFRB	Hypercalcemia	HP:0003072
5159	PDGFRB	Athetosis	HP:0002305
5159	PDGFRB	Autosomal dominant inheritance	HP:0000006
5159	PDGFRB	Fragile skin	HP:0001030
5159	PDGFRB	Proptosis	HP:0000520
5159	PDGFRB	Gait disturbance	HP:0001288
5159	PDGFRB	Overgrowth	HP:0001548
5159	PDGFRB	Delayed cranial suture closure	HP:0000270
5159	PDGFRB	Tracheoesophageal fistula	HP:0002575
5159	PDGFRB	Rigidity	HP:0002063
5159	PDGFRB	Bradykinesia	HP:0002067
5159	PDGFRB	Parkinsonism	HP:0001300
5159	PDGFRB	Urinary incontinence	HP:0000020
5159	PDGFRB	Corneal opacity	HP:0007957
5159	PDGFRB	Hemiplegia/hemiparesis	HP:0004374
5159	PDGFRB	Midface retrusion	HP:0011800
5159	PDGFRB	Chorea	HP:0002072
5159	PDGFRB	Dysdiadochokinesis	HP:0002075
5159	PDGFRB	Hypermetropia	HP:0000540
5159	PDGFRB	Slender long bone	HP:0003100
5159	PDGFRB	Migraine	HP:0002076
5159	PDGFRB	Bone cyst	HP:0012062
5159	PDGFRB	Progressive neurologic deterioration	HP:0002344
5159	PDGFRB	Long foot	HP:0001833
5159	PDGFRB	Mask-like facies	HP:0000298
5159	PDGFRB	Osteolytic defects of the phalanges of the hand	HP:0009771
5159	PDGFRB	Thin calvarium	HP:0010539
5159	PDGFRB	Memory impairment	HP:0002354
5159	PDGFRB	Pointed chin	HP:0000307
5159	PDGFRB	Dystonia	HP:0001332
5159	PDGFRB	Tremor	HP:0001337
5159	PDGFRB	Abnormal hair morphology	HP:0001595
5159	PDGFRB	Hyperreflexia	HP:0001347
5159	PDGFRB	Hypoplasia of the maxilla	HP:0000327
5159	PDGFRB	Ventriculomegaly	HP:0002119
5159	PDGFRB	Abnormality of the kidney	HP:0000077
5159	PDGFRB	Neoplasm of the pancreas	HP:0002894
5159	PDGFRB	Prominent supraorbital ridges	HP:0000336
5159	PDGFRB	Thrombocytopenia	HP:0001873
5159	PDGFRB	Wormian bones	HP:0002645
5159	PDGFRB	Basal ganglia calcification	HP:0002135
5159	PDGFRB	Eosinophilia	HP:0001880
5159	PDGFRB	Abnormal pyramidal sign	HP:0007256
5159	PDGFRB	Scoliosis	HP:0002650
5159	PDGFRB	Micrognathia	HP:0000347
5159	PDGFRB	Progressive	HP:0003676
5159	PDGFRB	Intestinal obstruction	HP:0005214
5159	PDGFRB	Limitation of joint mobility	HP:0001376
5159	PDGFRB	Limb dysmetria	HP:0002406
5159	PDGFRB	Skin ulcer	HP:0200042
5159	PDGFRB	Increased thyroid-stimulating hormone level	HP:0002925
5159	PDGFRB	Fibroma	HP:0010614
5159	PDGFRB	Postural instability	HP:0002172
5159	PDGFRB	Malignant eosinophil proliferation	HP:0006782
5159	PDGFRB	Nystagmus	HP:0000639
5159	PDGFRB	Thoracolumbar scoliosis	HP:0002944
5159	PDGFRB	Brachydactyly	HP:0001156
5159	PDGFRB	Neoplasm of the skin	HP:0008069
5159	PDGFRB	Sparse hair	HP:0008070
5159	PDGFRB	Subcutaneous hemorrhage	HP:0001933
5159	PDGFRB	Sensorineural hearing impairment	HP:0000407
5159	PDGFRB	Dense calcifications in the cerebellar dentate nucleus	HP:0002461
5159	PDGFRB	Abnormality of the skull	HP:0000929
5159	PDGFRB	Micrographia	HP:0031908
5159	PDGFRB	Chondrocalcinosis	HP:0000934
5159	PDGFRB	Gingival fibromatosis	HP:0000169
5159	PDGFRB	Prominent nasal bridge	HP:0000426
5159	PDGFRB	Osteopenia	HP:0000938
5159	PDGFRB	Myeloproliferative disorder	HP:0005547
5159	PDGFRB	Delayed eruption of teeth	HP:0000684
5159	PDGFRB	Wide nasal bridge	HP:0000431
5159	PDGFRB	Neoplasm of the lung	HP:0100526
5159	PDGFRB	Abnormality of the metaphysis	HP:0000944
5159	PDGFRB	Abnormality of the skin	HP:0000951
5159	PDGFRB	Delayed skeletal maturation	HP:0002750
5159	PDGFRB	Hepatomegaly	HP:0002240
5159	PDGFRB	Hyperkeratosis	HP:0000962
5159	PDGFRB	Thin skin	HP:0000963
5159	PDGFRB	Abnormality of the musculature	HP:0003011
5159	PDGFRB	Psychosis	HP:0000709
5159	PDGFRB	Calcification of the small brain vessels	HP:0002504
5159	PDGFRB	Subcutaneous nodule	HP:0001482
5159	PDGFRB	Narrow nose	HP:0000460
5159	PDGFRB	Depressivity	HP:0000716
5159	PDGFRB	Hyperextensible skin	HP:0000974
5159	PDGFRB	Cerebral calcification	HP:0002514
5159	PDGFRB	Prominent forehead	HP:0011220
5159	PDGFRB	Dementia	HP:0000726
5159	PDGFRB	Thin upper lip vermilion	HP:0000219
5159	PDGFRB	Abnormality of neuronal migration	HP:0002269
5159	PDGFRB	Abnormality of connective tissue	HP:0003549
5159	PDGFRB	Abnormality of the eye	HP:0000478
5159	PDGFRB	Seizures	HP:0001250
5159	PDGFRB	Benign neoplasm of the central nervous system	HP:0100835
5159	PDGFRB	Growth abnormality	HP:0001507
5159	PDGFRB	Lipoatrophy	HP:0100578
5159	PDGFRB	Anxiety	HP:0000739
5159	PDGFRB	Intrauterine growth retardation	HP:0001511
5159	PDGFRB	Irregular hyperpigmentation	HP:0007400
5159	PDGFRB	Thin vermilion border	HP:0000233
5159	PDGFRB	Dysarthria	HP:0001260
5159	PDGFRB	Osteolysis	HP:0002797
5159	PDGFRB	Downslanted palpebral fissures	HP:0000494
5159	PDGFRB	Abnormal sacrum morphology	HP:0005107
5159	PDGFRB	Mental deterioration	HP:0001268
5159	PDGFRB	Microcephaly	HP:0000252
5159	PDGFRB	Ptosis	HP:0000508
5159	PDGFRB	Abnormality of the thorax	HP:0000765
5159	PDGFRB	Adult onset	HP:0003581
5160	PDHA1	Optic atrophy	HP:0000648
5160	PDHA1	Infantile onset	HP:0003593
5160	PDHA1	Generalized hypotonia	HP:0001290
5160	PDHA1	Cerebral atrophy	HP:0002059
5160	PDHA1	Psychomotor retardation	HP:0025356
5160	PDHA1	Decreased activity of mitochondrial respiratory chain	HP:0008972
5160	PDHA1	Basal ganglia cysts	HP:0006799
5160	PDHA1	X-linked dominant inheritance	HP:0001423
5160	PDHA1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
5160	PDHA1	Hyperalaninemia	HP:0003348
5160	PDHA1	Progressive cerebellar ataxia	HP:0002073
5160	PDHA1	Severe lactic acidosis	HP:0004900
5160	PDHA1	Wide nasal bridge	HP:0000431
5160	PDHA1	Dystonia	HP:0001332
5160	PDHA1	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
5160	PDHA1	Apnea	HP:0002104
5160	PDHA1	Increased CSF lactate	HP:0002490
5160	PDHA1	Chronic lactic acidosis	HP:0004925
5160	PDHA1	Hyperreflexia	HP:0001347
5160	PDHA1	Pigmentary retinopathy	HP:0000580
5160	PDHA1	Flared nostrils	HP:0000454
5160	PDHA1	Ventriculomegaly	HP:0002119
5160	PDHA1	Emotional lability	HP:0000712
5160	PDHA1	Abnormal facial shape	HP:0001999
5160	PDHA1	Anteverted nares	HP:0000463
5160	PDHA1	Episodic ataxia	HP:0002131
5160	PDHA1	Long philtrum	HP:0000343
5160	PDHA1	Frontal bossing	HP:0002007
5160	PDHA1	Ophthalmoplegia	HP:0000602
5160	PDHA1	Ventricular septal defect	HP:0001629
5160	PDHA1	Intellectual disability	HP:0001249
5160	PDHA1	Seizures	HP:0001250
5160	PDHA1	Muscular hypotonia	HP:0001252
5160	PDHA1	Failure to thrive	HP:0001508
5160	PDHA1	Lethargy	HP:0001254
5160	PDHA1	Strabismus	HP:0000486
5160	PDHA1	Hypertrichosis	HP:0000998
5160	PDHA1	Peripheral neuropathy	HP:0009830
5160	PDHA1	Increased serum lactate	HP:0002151
5160	PDHA1	Hypertrophic cardiomyopathy	HP:0001639
5160	PDHA1	Progressive spastic paraplegia	HP:0007020
5160	PDHA1	Dysarthria	HP:0001260
5160	PDHA1	Hearing impairment	HP:0000365
5160	PDHA1	Small for gestational age	HP:0001518
5160	PDHA1	Global developmental delay	HP:0001263
5160	PDHA1	Anemia	HP:0001903
5160	PDHA1	Leukodystrophy	HP:0002415
5160	PDHA1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
5160	PDHA1	Abnormality of eye movement	HP:0000496
5160	PDHA1	Intellectual disability, severe	HP:0010864
5160	PDHA1	Choreoathetosis	HP:0001266
5160	PDHA1	Agenesis of corpus callosum	HP:0001274
5160	PDHA1	Ptosis	HP:0000508
5160	PDHA1	Microcephaly	HP:0000252
5160	PDHA1	Nystagmus	HP:0000639
5162	PDHB	Autosomal recessive inheritance	HP:0000007
5162	PDHB	Lactic acidosis	HP:0003128
5162	PDHB	Generalized hypotonia	HP:0001290
5165	PDK3	Steppage gait	HP:0003376
5165	PDK3	Hyporeflexia	HP:0001265
5165	PDK3	Pes cavus	HP:0001761
5165	PDK3	Sensory impairment	HP:0003474
5165	PDK3	Sensorineural hearing impairment	HP:0000407
5165	PDK3	Polyneuropathy	HP:0001271
5165	PDK3	Hand tremor	HP:0002378
5165	PDK3	Hand muscle weakness	HP:0030237
5165	PDK3	Slow progression	HP:0003677
5165	PDK3	X-linked dominant inheritance	HP:0001423
5167	ENPP1	Epidermal acanthosis	HP:0025092
5167	ENPP1	Polyarticular arthritis	HP:0005764
5167	ENPP1	Periarticular calcification	HP:0025477
5167	ENPP1	Autosomal dominant inheritance	HP:0000006
5167	ENPP1	Autosomal recessive inheritance	HP:0000007
5167	ENPP1	Elevated alkaline phosphatase of bone origin	HP:0010639
5167	ENPP1	Angina pectoris	HP:0001681
5167	ENPP1	Low serum calcitriol	HP:0012052
5167	ENPP1	Hemiplegia/hemiparesis	HP:0004374
5167	ENPP1	Sensorineural hearing impairment	HP:0000407
5167	ENPP1	Hypergranulosis	HP:0025114
5167	ENPP1	Genu varum	HP:0002970
5167	ENPP1	Renal hypophosphatemia	HP:0008732
5167	ENPP1	Abnormality of renal excretion	HP:0011036
5167	ENPP1	Carious teeth	HP:0000670
5167	ENPP1	Myopia	HP:0000545
5167	ENPP1	Ankylosis	HP:0031013
5167	ENPP1	Acne	HP:0001061
5167	ENPP1	Hyperphosphaturia	HP:0003109
5167	ENPP1	Tooth abscess	HP:0030757
5167	ENPP1	Tibial bowing	HP:0002982
5167	ENPP1	Striae distensae	HP:0001065
5167	ENPP1	Genu valgum	HP:0002857
5167	ENPP1	Delayed eruption of teeth	HP:0000684
5167	ENPP1	Abnormality of the sacroiliac joint	HP:0100781
5167	ENPP1	Hypoplasia of teeth	HP:0000685
5167	ENPP1	Hypophosphatemic rickets	HP:0004912
5167	ENPP1	Abnormality of the cerebral vasculature	HP:0100659
5167	ENPP1	Coronary artery calcification	HP:0001717
5167	ENPP1	Hypothyroidism	HP:0000821
5167	ENPP1	Hypertension	HP:0000822
5167	ENPP1	Dilatation	HP:0002617
5167	ENPP1	Restrictive cardiomyopathy	HP:0001723
5167	ENPP1	Joint hyperflexibility	HP:0005692
5167	ENPP1	Retinal hemorrhage	HP:0000573
5167	ENPP1	Atherosclerosis	HP:0002621
5167	ENPP1	Osteomalacia	HP:0002749
5167	ENPP1	Abnormal trabecular bone morphology	HP:0100671
5167	ENPP1	Gastrointestinal hemorrhage	HP:0002239
5167	ENPP1	Rickets of the lower limbs	HP:0006463
5167	ENPP1	Arterial stenosis	HP:0100545
5167	ENPP1	Hyperkeratosis	HP:0000962
5167	ENPP1	Pseudo-fractures	HP:0100036
5167	ENPP1	Subcutaneous nodule	HP:0001482
5167	ENPP1	Generalized arterial calcification	HP:0004940
5167	ENPP1	Enlargement of the wrists	HP:0003020
5167	ENPP1	Hyperextensible skin	HP:0000974
5167	ENPP1	Angioid streaks of the fundus	HP:0001102
5167	ENPP1	Lower limb asymmetry	HP:0100559
5167	ENPP1	Enthesitis	HP:0100686
5167	ENPP1	Abnormal thrombocyte morphology	HP:0001872
5167	ENPP1	Blue sclerae	HP:0000592
5167	ENPP1	Abnormal endocardium morphology	HP:0004306
5167	ENPP1	Cerebral calcification	HP:0002514
5167	ENPP1	Bruising susceptibility	HP:0000978
5167	ENPP1	Craniosynostosis	HP:0001363
5167	ENPP1	Palmoplantar keratoderma	HP:0000982
5167	ENPP1	Spinal canal stenosis	HP:0003416
5167	ENPP1	Scoliosis	HP:0002650
5167	ENPP1	High palate	HP:0000218
5167	ENPP1	Thickened nuchal skin fold	HP:0000474
5167	ENPP1	Skin rash	HP:0000988
5167	ENPP1	Metamorphopsia	HP:0012508
5167	ENPP1	Skeletal dysplasia	HP:0002652
5167	ENPP1	Pruritus	HP:0000989
5167	ENPP1	Bone pain	HP:0002653
5167	ENPP1	Excessive wrinkled skin	HP:0007392
5167	ENPP1	Sclerotic vertebral endplates	HP:0004576
5167	ENPP1	Short stature	HP:0004322
5167	ENPP1	Mitral valve prolapse	HP:0001634
5167	ENPP1	Growth abnormality	HP:0001507
5167	ENPP1	Congestive heart failure	HP:0001635
5167	ENPP1	Retinopathy	HP:0000488
5167	ENPP1	Telangiectasia of the skin	HP:0100585
5167	ENPP1	Malabsorption	HP:0002024
5167	ENPP1	Distal femoral bowing	HP:0005096
5167	ENPP1	Pulmonic stenosis	HP:0001642
5167	ENPP1	Sudden cardiac death	HP:0001645
5167	ENPP1	Multiple lipomas	HP:0001012
5167	ENPP1	Renal phosphate wasting	HP:0000117
5167	ENPP1	Nephrocalcinosis	HP:0000121
5167	ENPP1	Visual impairment	HP:0000505
5167	ENPP1	Increased bone mineral density	HP:0011001
5167	ENPP1	Myocardial infarction	HP:0001658
5167	ENPP1	Postural instability	HP:0002172
5167	ENPP1	Coxa vara	HP:0002812
5167	ENPP1	Abnormality of the thorax	HP:0000765
5172	SLC26A4	Feeding difficulties	HP:0011968
5172	SLC26A4	Abdominal distention	HP:0003270
5172	SLC26A4	Autosomal recessive inheritance	HP:0000007
5172	SLC26A4	Thyroid carcinoma	HP:0002890
5172	SLC26A4	Hypoplasia of the cochlea	HP:0008586
5172	SLC26A4	Hyperparathyroidism	HP:0000843
5172	SLC26A4	Congenital sensorineural hearing impairment	HP:0008527
5172	SLC26A4	Vertigo	HP:0002321
5172	SLC26A4	Abnormality of metabolism/homeostasis	HP:0001939
5172	SLC26A4	Goiter	HP:0000853
5172	SLC26A4	Vestibular dysfunction	HP:0001751
5172	SLC26A4	Sensorineural hearing impairment	HP:0000407
5172	SLC26A4	Coarse facial features	HP:0000280
5172	SLC26A4	Tracheal stenosis	HP:0002777
5172	SLC26A4	Fatigue	HP:0012378
5172	SLC26A4	Macroglossia	HP:0000158
5172	SLC26A4	Compensated hypothyroidism	HP:0008223
5172	SLC26A4	Intellectual disability	HP:0001249
5172	SLC26A4	Short stature	HP:0004322
5172	SLC26A4	Constipation	HP:0002019
5172	SLC26A4	Ataxia	HP:0001251
5172	SLC26A4	Muscular hypotonia	HP:0001252
5172	SLC26A4	Thyroid hypoplasia	HP:0005990
5172	SLC26A4	Cochlear malformation	HP:0008554
5172	SLC26A4	Muscle weakness	HP:0001324
5172	SLC26A4	Respiratory insufficiency	HP:0002093
5172	SLC26A4	Large fontanelles	HP:0000239
5172	SLC26A4	Global developmental delay	HP:0001263
5172	SLC26A4	Intellectual disability, severe	HP:0010864
5172	SLC26A4	Nephropathy	HP:0000112
5172	SLC26A4	Hypersomnia	HP:0100786
5172	SLC26A4	Hypothyroidism	HP:0000821
5172	SLC26A4	Neurological speech impairment	HP:0002167
5172	SLC26A4	Incomplete partition of the cochlea type II	HP:0000376
5172	SLC26A4	Jaundice	HP:0000952
5172	SLC26A4	Enlarged vestibular aqueduct	HP:0011387
5172	SLC26A4	Thyroid agenesis	HP:0008191
5173	PDYN	Neuronal loss in central nervous system	HP:0002529
5173	PDYN	Slow saccadic eye movements	HP:0000514
5173	PDYN	Hyperreflexia	HP:0001347
5173	PDYN	Sensorimotor neuropathy	HP:0007141
5173	PDYN	Impaired distal vibration sensation	HP:0006886
5173	PDYN	Autosomal dominant inheritance	HP:0000006
5173	PDYN	CNS demyelination	HP:0007305
5173	PDYN	Dysarthria	HP:0001260
5173	PDYN	Impaired proprioception	HP:0010831
5173	PDYN	Gait ataxia	HP:0002066
5173	PDYN	Limb ataxia	HP:0002070
5173	PDYN	Impaired vibration sensation in the lower limbs	HP:0002166
5173	PDYN	Polyneuropathy	HP:0001271
5173	PDYN	Cerebellar atrophy	HP:0001272
5173	PDYN	Progressive cerebellar ataxia	HP:0002073
5173	PDYN	Tremor	HP:0001337
5173	PDYN	Agenesis of corpus callosum	HP:0001274
5173	PDYN	Slow progression	HP:0003677
5173	PDYN	Dysmetria	HP:0001310
5173	PDYN	Babinski sign	HP:0003487
5176	SERPINF1	Increased susceptibility to fractures	HP:0002659
5176	SERPINF1	Autosomal recessive inheritance	HP:0000007
5176	SERPINF1	Beaking of vertebral bodies	HP:0004568
5176	SERPINF1	Vertebral compression fractures	HP:0002953
5176	SERPINF1	Biconcave vertebral bodies	HP:0004586
5176	SERPINF1	Protrusio acetabuli	HP:0003179
5176	SERPINF1	Joint laxity	HP:0001388
5176	SERPINF1	Coxa vara	HP:0002812
54332	GDAP1	Foot dorsiflexor weakness	HP:0009027
54332	GDAP1	Inability to walk by childhood/adolescence	HP:0006915
54332	GDAP1	Areflexia	HP:0001284
54332	GDAP1	Vocal cord paresis	HP:0001604
54332	GDAP1	Autosomal dominant inheritance	HP:0000006
54332	GDAP1	Autosomal recessive inheritance	HP:0000007
54332	GDAP1	Childhood onset	HP:0011463
54332	GDAP1	Gait disturbance	HP:0001288
54332	GDAP1	Basal lamina onion bulb formation	HP:0003400
54332	GDAP1	Infantile onset	HP:0003593
54332	GDAP1	Peripheral hypomyelination	HP:0007182
54332	GDAP1	Axonal degeneration	HP:0040078
54332	GDAP1	Heterogeneous	HP:0001425
54332	GDAP1	Split hand	HP:0001171
54332	GDAP1	Peripheral demyelination	HP:0011096
54332	GDAP1	Scoliosis	HP:0002650
54332	GDAP1	Ulnar claw	HP:0001178
54332	GDAP1	Arrhythmia	HP:0011675
54332	GDAP1	Flexion contracture	HP:0001371
54332	GDAP1	Distal muscle weakness	HP:0002460
54332	GDAP1	Rapidly progressive	HP:0003678
54332	GDAP1	Pes cavus	HP:0001761
54332	GDAP1	Talipes equinovarus	HP:0001762
54332	GDAP1	Hammertoe	HP:0001765
54332	GDAP1	CNS hypomyelination	HP:0003429
54332	GDAP1	Peripheral neuropathy	HP:0009830
54332	GDAP1	Decreased motor nerve conduction velocity	HP:0003431
54332	GDAP1	Neonatal onset	HP:0003623
54332	GDAP1	Hand muscle atrophy	HP:0009130
54332	GDAP1	Limb muscle weakness	HP:0003690
54332	GDAP1	Distal amyotrophy	HP:0003693
54332	GDAP1	Steppage gait	HP:0003376
54332	GDAP1	Hyporeflexia	HP:0001265
54332	GDAP1	Axonal degeneration/regeneration	HP:0003378
54332	GDAP1	Decreased number of peripheral myelinated nerve fibers	HP:0003380
54332	GDAP1	Proximal muscle weakness	HP:0003701
54332	GDAP1	EMG: neuropathic changes	HP:0003445
54332	GDAP1	Motor delay	HP:0001270
54332	GDAP1	Hypertrophic nerve changes	HP:0003382
54332	GDAP1	Onion bulb formation	HP:0003383
54332	GDAP1	Distal sensory impairment	HP:0002936
54332	GDAP1	Decreased nerve conduction velocity	HP:0000762
54332	GDAP1	Axonal regeneration	HP:0003450
54332	GDAP1	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
54332	GDAP1	Spinal deformities	HP:0008443
54332	GDAP1	Peripheral axonal degeneration	HP:0000764
54332	GDAP1	Kyphoscoliosis	HP:0002751
5184	PEPD	Chronic lung disease	HP:0006528
5184	PEPD	Recurrent pneumonia	HP:0006532
5184	PEPD	Autosomal recessive inheritance	HP:0000007
5184	PEPD	Proptosis	HP:0000520
5184	PEPD	Arachnodactyly	HP:0001166
5184	PEPD	Abnormality of metabolism/homeostasis	HP:0001939
5184	PEPD	Abnormality of retinal pigmentation	HP:0007703
5184	PEPD	Recurrent respiratory infections	HP:0002205
5184	PEPD	Carious teeth	HP:0000670
5184	PEPD	Recurrent infections	HP:0002719
5184	PEPD	Erythema	HP:0010783
5184	PEPD	Depressed nasal bridge	HP:0005280
5184	PEPD	White forelock	HP:0002211
5184	PEPD	Systemic lupus erythematosus	HP:0002725
5184	PEPD	Low anterior hairline	HP:0000294
5184	PEPD	Genu valgum	HP:0002857
5184	PEPD	Hypoplasia of the zygomatic bone	HP:0010669
5184	PEPD	Bilateral single transverse palmar creases	HP:0007598
5184	PEPD	Crusting erythematous dermatitis	HP:0007473
5184	PEPD	Prolonged neonatal jaundice	HP:0006579
5184	PEPD	Asthma	HP:0002099
5184	PEPD	Generalized hirsutism	HP:0002230
5184	PEPD	Convex nasal ridge	HP:0000444
5184	PEPD	Hypertelorism	HP:0000316
5184	PEPD	Dry skin	HP:0000958
5184	PEPD	Hepatomegaly	HP:0002240
5184	PEPD	Diffuse telangiectasia	HP:0007489
5184	PEPD	Thin skin	HP:0000963
5184	PEPD	Petechiae	HP:0000967
5184	PEPD	Abnormality of the hip bone	HP:0003272
5184	PEPD	Depressed nasal ridge	HP:0000457
5184	PEPD	Abnormal facial shape	HP:0001999
5184	PEPD	Abnormal fingernail morphology	HP:0001231
5184	PEPD	Splenomegaly	HP:0001744
5184	PEPD	Thrombocytopenia	HP:0001873
5184	PEPD	Prominent forehead	HP:0011220
5184	PEPD	Palmoplantar keratoderma	HP:0000982
5184	PEPD	Micrognathia	HP:0000347
5184	PEPD	Pruritus	HP:0000989
5184	PEPD	Cutaneous photosensitivity	HP:0000992
5184	PEPD	Intellectual disability	HP:0001249
5184	PEPD	Papule	HP:0200034
5184	PEPD	Skin ulcer	HP:0200042
5184	PEPD	Hearing impairment	HP:0000365
5184	PEPD	Global developmental delay	HP:0001263
5184	PEPD	Anemia	HP:0001903
5184	PEPD	Low posterior hairline	HP:0002162
5184	PEPD	Abnormality of the middle ear	HP:0000370
5184	PEPD	Recurrent cystitis	HP:0012786
5184	PEPD	Visual impairment	HP:0000505
5184	PEPD	Ptosis	HP:0000508
5184	PEPD	Short nose	HP:0003196
5184	PEPD	Reduced bone mineral density	HP:0004349
29760	BLNK	Osteomyelitis	HP:0002754
29760	BLNK	Recurrent pneumonia	HP:0006532
29760	BLNK	Chronic otitis media	HP:0000389
29760	BLNK	Meningitis	HP:0001287
29760	BLNK	Sepsis	HP:0100806
29760	BLNK	Autosomal recessive inheritance	HP:0000007
29760	BLNK	Infantile onset	HP:0003593
29760	BLNK	Agammaglobulinemia	HP:0004432
29760	BLNK	Neutropenia	HP:0001875
29760	BLNK	Hepatitis	HP:0012115
29760	BLNK	Recurrent otitis media	HP:0000403
29760	BLNK	Dehydration	HP:0001944
29760	BLNK	Arthritis	HP:0001369
29760	BLNK	Fever	HP:0001945
29760	BLNK	High palate	HP:0000218
29760	BLNK	Fatigue	HP:0012378
29760	BLNK	Skin rash	HP:0000988
29760	BLNK	Recurrent respiratory infections	HP:0002205
29760	BLNK	Diarrhea	HP:0002014
29760	BLNK	Epicanthus	HP:0000286
29760	BLNK	Recurrent bacterial infections	HP:0002718
29760	BLNK	Immunodeficiency	HP:0002721
29760	BLNK	Failure to thrive	HP:0001508
29760	BLNK	Chronic sinusitis	HP:0011109
29760	BLNK	Malabsorption	HP:0002024
29760	BLNK	Verrucae	HP:0200043
29760	BLNK	Recurrent skin infections	HP:0001581
29760	BLNK	Cellulitis	HP:0100658
29760	BLNK	Sinusitis	HP:0000246
29760	BLNK	Hypertelorism	HP:0000316
29760	BLNK	External ear malformation	HP:0008572
29760	BLNK	Conjunctivitis	HP:0000509
29760	BLNK	Bronchiectasis	HP:0002110
29760	BLNK	Cough	HP:0012735
5189	PEX1	Abnormal electroretinogram	HP:0000512
5189	PEX1	Macrocephaly	HP:0000256
5189	PEX1	Multicystic kidney dysplasia	HP:0000003
5189	PEX1	Areflexia	HP:0001284
5189	PEX1	Wide anterior fontanel	HP:0000260
5189	PEX1	Cataract	HP:0000518
5189	PEX1	Autosomal recessive inheritance	HP:0000007
5189	PEX1	Generalized hypotonia	HP:0001290
5189	PEX1	Dolichocephaly	HP:0000268
5189	PEX1	Psychomotor retardation	HP:0025356
5189	PEX1	Ulnar deviation of the hand	HP:0009487
5189	PEX1	Primary adrenal insufficiency	HP:0008207
5189	PEX1	Malar flattening	HP:0000272
5189	PEX1	Thin eyebrow	HP:0045074
5189	PEX1	Primary amenorrhea	HP:0000786
5189	PEX1	Abnormal chorioretinal morphology	HP:0000532
5189	PEX1	Corneal opacity	HP:0007957
5189	PEX1	Abnormality of retinal pigmentation	HP:0007703
5189	PEX1	Midface retrusion	HP:0011800
5189	PEX1	Aminoaciduria	HP:0003355
5189	PEX1	Cryptorchidism	HP:0000028
5189	PEX1	Leukonychia	HP:0001820
5189	PEX1	Epicanthus	HP:0000286
5189	PEX1	Abnormality of the helix	HP:0011039
5189	PEX1	Optic disc pallor	HP:0000543
5189	PEX1	Abnormality of nail color	HP:0100643
5189	PEX1	Reduced tendon reflexes	HP:0001315
5189	PEX1	Neonatal hypotonia	HP:0001319
5189	PEX1	Pulmonary hypoplasia	HP:0002089
5189	PEX1	Abnormality of epiphysis morphology	HP:0005930
5189	PEX1	Respiratory insufficiency	HP:0002093
5189	PEX1	Rocker bottom foot	HP:0001838
5189	PEX1	Hypospadias	HP:0000047
5189	PEX1	Metatarsus adductus	HP:0001840
5189	PEX1	Albuminuria	HP:0012592
5189	PEX1	EEG abnormality	HP:0002353
5189	PEX1	Diabetes mellitus	HP:0000819
5189	PEX1	Muscle flaccidity	HP:0010547
5189	PEX1	Round face	HP:0000311
5189	PEX1	Bell-shaped thorax	HP:0001591
5189	PEX1	Protruding tongue	HP:0010808
5189	PEX1	Hypertelorism	HP:0000316
5189	PEX1	Brushfield spots	HP:0001088
5189	PEX1	Adrenal hypoplasia	HP:0000835
5189	PEX1	Hyperreflexia	HP:0001347
5189	PEX1	Pigmentary retinopathy	HP:0000580
5189	PEX1	Upslanted palpebral fissure	HP:0000582
5189	PEX1	Developmental regression	HP:0002376
5189	PEX1	Macular dystrophy	HP:0007754
5189	PEX1	Elevated levels of phytanic acid	HP:0010571
5189	PEX1	Polymicrogyria	HP:0002126
5189	PEX1	Opacification of the corneal stroma	HP:0007759
5189	PEX1	Flat face	HP:0012368
5189	PEX1	Severe global developmental delay	HP:0011344
5189	PEX1	Premature birth	HP:0001622
5189	PEX1	Breech presentation	HP:0001623
5189	PEX1	Hyperoxaluria	HP:0003159
5189	PEX1	Micrognathia	HP:0000347
5189	PEX1	High forehead	HP:0000348
5189	PEX1	Skeletal dysplasia	HP:0002652
5189	PEX1	Ventricular septal defect	HP:0001629
5189	PEX1	Flat occiput	HP:0005469
5189	PEX1	Abnormal hair quantity	HP:0011362
5189	PEX1	Redundant neck skin	HP:0005989
5189	PEX1	Posteriorly rotated ears	HP:0000358
5189	PEX1	Cardiomyopathy	HP:0001638
5189	PEX1	Abnormal nasolacrimal system morphology	HP:0000614
5189	PEX1	Patent ductus arteriosus	HP:0001643
5189	PEX1	Renal cyst	HP:0000107
5189	PEX1	Constriction of peripheral visual field	HP:0001133
5189	PEX1	Leukodystrophy	HP:0002415
5189	PEX1	Subependymal cysts	HP:0002416
5189	PEX1	Intellectual disability, severe	HP:0010864
5189	PEX1	Low-set, posteriorly rotated ears	HP:0000368
5189	PEX1	Abnormality of the liver	HP:0001392
5189	PEX1	Cirrhosis	HP:0001394
5189	PEX1	Posterior embryotoxon	HP:0000627
5189	PEX1	Hepatic fibrosis	HP:0001395
5189	PEX1	Hepatic failure	HP:0001399
5189	PEX1	Intrahepatic biliary dysgenesis	HP:0001401
5189	PEX1	External ear malformation	HP:0008572
5189	PEX1	Renal cortical microcysts	HP:0004734
5189	PEX1	Hydronephrosis	HP:0000126
5189	PEX1	Nystagmus	HP:0000639
5189	PEX1	Elevated circulating long chain fatty acid concentration	HP:0003455
5189	PEX1	Ichthyosis	HP:0008064
5189	PEX1	Facial palsy	HP:0010628
5189	PEX1	Hypogonadism	HP:0000135
5189	PEX1	Optic atrophy	HP:0000648
5189	PEX1	Abnormality of coagulation	HP:0001928
5189	PEX1	Camptodactyly of finger	HP:0100490
5189	PEX1	Widely patent fontanelles and sutures	HP:0004492
5189	PEX1	Heterogeneous	HP:0001425
5189	PEX1	High, narrow palate	HP:0002705
5189	PEX1	Abnormality of metabolism/homeostasis	HP:0001939
5189	PEX1	Nyctalopia	HP:0000662
5189	PEX1	Cubitus valgus	HP:0002967
5189	PEX1	Sensorineural hearing impairment	HP:0000407
5189	PEX1	Large hands	HP:0001176
5189	PEX1	Hypoplasia of dental enamel	HP:0006297
5189	PEX1	Arrhythmia	HP:0011675
5189	PEX1	Abnormality of the tongue	HP:0000157
5189	PEX1	Macroglossia	HP:0000158
5189	PEX1	Epiphyseal stippling	HP:0010655
5189	PEX1	Depressed nasal bridge	HP:0005280
5189	PEX1	High anterior hairline	HP:0009890
5189	PEX1	Underdeveloped supraorbital ridges	HP:0009891
5189	PEX1	Taurodontia	HP:0000679
5189	PEX1	Feeding difficulties in infancy	HP:0008872
5189	PEX1	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
5189	PEX1	External genital hypoplasia	HP:0003241
5189	PEX1	Abnormality of dental enamel	HP:0000682
5189	PEX1	Severe muscular hypotonia	HP:0006829
5189	PEX1	Abnormal palate morphology	HP:0000174
5189	PEX1	Bilateral single transverse palmar creases	HP:0007598
5189	PEX1	Wide nasal bridge	HP:0000431
5189	PEX1	Prolonged neonatal jaundice	HP:0006579
5189	PEX1	Jaundice	HP:0000952
5189	PEX1	Single transverse palmar crease	HP:0000954
5189	PEX1	Acanthosis nigricans	HP:0000956
5189	PEX1	Convex nasal ridge	HP:0000444
5189	PEX1	Delayed skeletal maturation	HP:0002750
5189	PEX1	Cognitive impairment	HP:0100543
5189	PEX1	Hepatomegaly	HP:0002240
5189	PEX1	Profound global developmental delay	HP:0012736
5189	PEX1	Amelogenesis imperfecta	HP:0000705
5189	PEX1	Pili torti	HP:0003777
5189	PEX1	Behavioral abnormality	HP:0000708
5189	PEX1	Abnormal toenail morphology	HP:0008388
5189	PEX1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
5189	PEX1	Anteverted nares	HP:0000463
5189	PEX1	Abnormal fingernail morphology	HP:0001231
5189	PEX1	Cerebral calcification	HP:0002514
5189	PEX1	Clitoral hypertrophy	HP:0008665
5189	PEX1	High palate	HP:0000218
5189	PEX1	Thickened nuchal skin fold	HP:0000474
5189	PEX1	Abnormality of neuronal migration	HP:0002269
5189	PEX1	Intellectual disability	HP:0001249
5189	PEX1	Talipes equinovarus	HP:0001762
5189	PEX1	Seizures	HP:0001250
5189	PEX1	Short stature	HP:0004322
5189	PEX1	Ataxia	HP:0001251
5189	PEX1	Muscular hypotonia	HP:0001252
5189	PEX1	Failure to thrive	HP:0001508
5189	PEX1	Pyloric stenosis	HP:0002021
5189	PEX1	Strabismus	HP:0000486
5189	PEX1	Intellectual disability, progressive	HP:0006887
5189	PEX1	Very long chain fatty acid accumulation	HP:0008167
5189	PEX1	Malabsorption	HP:0002024
5189	PEX1	Spasticity	HP:0001257
5189	PEX1	Gray matter heterotopia	HP:0002282
5189	PEX1	Abnormal eyelid morphology	HP:0000492
5189	PEX1	Hypoplastic olfactory lobes	HP:0006894
5189	PEX1	Delayed speech and language development	HP:0000750
5189	PEX1	Global developmental delay	HP:0001263
5189	PEX1	Hyporeflexia	HP:0001265
5189	PEX1	Death in infancy	HP:0001522
5189	PEX1	Brachyturricephaly	HP:0000244
5189	PEX1	Glaucoma	HP:0000501
5189	PEX1	Visual impairment	HP:0000505
5189	PEX1	Progressive muscle weakness	HP:0003323
5189	PEX1	Sensory neuropathy	HP:0000763
5189	PEX1	Microcephaly	HP:0000252
5189	PEX1	Ptosis	HP:0000508
5189	PEX1	Rod-cone dystrophy	HP:0000510
5190	PEX6	Macrocephaly	HP:0000256
5190	PEX6	Multicystic kidney dysplasia	HP:0000003
5190	PEX6	Wide anterior fontanel	HP:0000260
5190	PEX6	Autosomal dominant inheritance	HP:0000006
5190	PEX6	Cataract	HP:0000518
5190	PEX6	Autosomal recessive inheritance	HP:0000007
5190	PEX6	Gait disturbance	HP:0001288
5190	PEX6	Generalized hypotonia	HP:0001290
5190	PEX6	Dolichocephaly	HP:0000268
5190	PEX6	Conjunctival telangiectasia	HP:0000524
5190	PEX6	Primary adrenal insufficiency	HP:0008207
5190	PEX6	Gait ataxia	HP:0002066
5190	PEX6	Thin eyebrow	HP:0045074
5190	PEX6	Primary amenorrhea	HP:0000786
5190	PEX6	Abnormal chorioretinal morphology	HP:0000532
5190	PEX6	Corneal opacity	HP:0007957
5190	PEX6	Abnormality of retinal pigmentation	HP:0007703
5190	PEX6	Progressive cerebellar ataxia	HP:0002073
5190	PEX6	Epicanthus inversus	HP:0000537
5190	PEX6	Cryptorchidism	HP:0000028
5190	PEX6	Leukonychia	HP:0001820
5190	PEX6	Epicanthus	HP:0000286
5190	PEX6	Abnormality of nail color	HP:0100643
5190	PEX6	Reduced tendon reflexes	HP:0001315
5190	PEX6	Neonatal hypotonia	HP:0001319
5190	PEX6	Abnormality of epiphysis morphology	HP:0005930
5190	PEX6	Head tremor	HP:0002346
5190	PEX6	Respiratory insufficiency	HP:0002093
5190	PEX6	Hypospadias	HP:0000047
5190	PEX6	EEG abnormality	HP:0002353
5190	PEX6	Difficulty walking	HP:0002355
5190	PEX6	Diabetes mellitus	HP:0000819
5190	PEX6	Muscle flaccidity	HP:0010547
5190	PEX6	Round face	HP:0000311
5190	PEX6	Hypertelorism	HP:0000316
5190	PEX6	Respiratory failure	HP:0002878
5190	PEX6	Brushfield spots	HP:0001088
5190	PEX6	Hyperreflexia	HP:0001347
5190	PEX6	Ureterocele	HP:0000070
5190	PEX6	Upslanted palpebral fissure	HP:0000582
5190	PEX6	Developmental regression	HP:0002376
5190	PEX6	Elevated levels of phytanic acid	HP:0010571
5190	PEX6	Polymicrogyria	HP:0002126
5190	PEX6	Flat face	HP:0012368
5190	PEX6	Severe global developmental delay	HP:0011344
5190	PEX6	Premature birth	HP:0001622
5190	PEX6	Micrognathia	HP:0000347
5190	PEX6	Skeletal dysplasia	HP:0002652
5190	PEX6	High forehead	HP:0000348
5190	PEX6	Ventricular septal defect	HP:0001629
5190	PEX6	Flat occiput	HP:0005469
5190	PEX6	Spinocerebellar atrophy	HP:0007263
5190	PEX6	Abnormal hair quantity	HP:0011362
5190	PEX6	Cardiomyopathy	HP:0001638
5190	PEX6	Abnormal nasolacrimal system morphology	HP:0000614
5190	PEX6	Blindness	HP:0000618
5190	PEX6	Renal cyst	HP:0000107
5190	PEX6	Constriction of peripheral visual field	HP:0001133
5190	PEX6	Hearing impairment	HP:0000365
5190	PEX6	Elevated alpha-fetoprotein	HP:0006254
5190	PEX6	Low-set, posteriorly rotated ears	HP:0000368
5190	PEX6	Abnormality of the liver	HP:0001392
5190	PEX6	Posterior embryotoxon	HP:0000627
5190	PEX6	Impaired vibration sensation in the lower limbs	HP:0002166
5190	PEX6	Hepatic failure	HP:0001399
5190	PEX6	Short nose	HP:0003196
5190	PEX6	External ear malformation	HP:0008572
5190	PEX6	Hydronephrosis	HP:0000126
5190	PEX6	Nystagmus	HP:0000639
5190	PEX6	Ichthyosis	HP:0008064
5190	PEX6	Decreased liver function	HP:0001410
5190	PEX6	Facial palsy	HP:0010628
5190	PEX6	Hypogonadism	HP:0000135
5190	PEX6	Optic atrophy	HP:0000648
5190	PEX6	Abnormality of coagulation	HP:0001928
5190	PEX6	Camptodactyly of finger	HP:0100490
5190	PEX6	Abnormality of metabolism/homeostasis	HP:0001939
5190	PEX6	Nyctalopia	HP:0000662
5190	PEX6	Sensorineural hearing impairment	HP:0000407
5190	PEX6	Large hands	HP:0001176
5190	PEX6	Arrhythmia	HP:0011675
5190	PEX6	Abnormality of the tongue	HP:0000157
5190	PEX6	Epiphyseal stippling	HP:0010655
5190	PEX6	Depressed nasal bridge	HP:0005280
5190	PEX6	Spastic dysarthria	HP:0002464
5190	PEX6	High anterior hairline	HP:0009890
5190	PEX6	Underdeveloped supraorbital ridges	HP:0009891
5190	PEX6	Dental crowding	HP:0000678
5190	PEX6	Taurodontia	HP:0000679
5190	PEX6	Feeding difficulties in infancy	HP:0008872
5190	PEX6	External genital hypoplasia	HP:0003241
5190	PEX6	Abnormality of dental enamel	HP:0000682
5190	PEX6	Severe muscular hypotonia	HP:0006829
5190	PEX6	Abnormal palate morphology	HP:0000174
5190	PEX6	Bilateral single transverse palmar creases	HP:0007598
5190	PEX6	Wide nasal bridge	HP:0000431
5190	PEX6	Jaundice	HP:0000952
5190	PEX6	Single transverse palmar crease	HP:0000954
5190	PEX6	Acanthosis nigricans	HP:0000956
5190	PEX6	Cognitive impairment	HP:0100543
5190	PEX6	Delayed skeletal maturation	HP:0002750
5190	PEX6	Hepatomegaly	HP:0002240
5190	PEX6	Profound global developmental delay	HP:0012736
5190	PEX6	Pili torti	HP:0003777
5190	PEX6	Behavioral abnormality	HP:0000708
5190	PEX6	Abnormal toenail morphology	HP:0008388
5190	PEX6	Anteverted nares	HP:0000463
5190	PEX6	Abnormal fingernail morphology	HP:0001231
5190	PEX6	Cerebral calcification	HP:0002514
5190	PEX6	Proximal amyotrophy	HP:0007126
5190	PEX6	Clitoral hypertrophy	HP:0008665
5190	PEX6	Thickened nuchal skin fold	HP:0000474
5190	PEX6	High palate	HP:0000218
5190	PEX6	Abnormality of neuronal migration	HP:0002269
5190	PEX6	Intellectual disability	HP:0001249
5190	PEX6	Seizures	HP:0001250
5190	PEX6	Short stature	HP:0004322
5190	PEX6	Ataxia	HP:0001251
5190	PEX6	Pes planus	HP:0001763
5190	PEX6	Failure to thrive	HP:0001508
5190	PEX6	Muscular hypotonia	HP:0001252
5190	PEX6	Pyloric stenosis	HP:0002021
5190	PEX6	Sensorimotor neuropathy	HP:0007141
5190	PEX6	Strabismus	HP:0000486
5190	PEX6	Very long chain fatty acid accumulation	HP:0008167
5190	PEX6	Generalized neonatal hypotonia	HP:0008935
5190	PEX6	Malabsorption	HP:0002024
5190	PEX6	Spasticity	HP:0001257
5190	PEX6	Abnormal eyelid morphology	HP:0000492
5190	PEX6	Cochlear degeneration	HP:0005102
5190	PEX6	Global developmental delay	HP:0001263
5190	PEX6	Hyporeflexia	HP:0001265
5190	PEX6	Death in infancy	HP:0001522
5190	PEX6	Mildly elevated creatine kinase	HP:0008180
5190	PEX6	Glaucoma	HP:0000501
5190	PEX6	Visual impairment	HP:0000505
5190	PEX6	Decreased nerve conduction velocity	HP:0000762
5190	PEX6	Progressive muscle weakness	HP:0003323
5190	PEX6	Sensory neuropathy	HP:0000763
5190	PEX6	Microcephaly	HP:0000252
5190	PEX6	Ptosis	HP:0000508
5190	PEX6	Rod-cone dystrophy	HP:0000510
5191	PEX7	Ichthyosis	HP:0008064
5191	PEX7	Skeletal muscle atrophy	HP:0003202
5191	PEX7	Cataract	HP:0000518
5191	PEX7	Autosomal recessive inheritance	HP:0000007
5191	PEX7	Developmental cataract	HP:0000519
5191	PEX7	Delayed CNS myelination	HP:0002188
5191	PEX7	Malar flattening	HP:0000272
5191	PEX7	Progressive visual loss	HP:0000529
5191	PEX7	Sensory impairment	HP:0003474
5191	PEX7	Abnormality of metabolism/homeostasis	HP:0001939
5191	PEX7	Hemiplegia/hemiparesis	HP:0004374
5191	PEX7	Nyctalopia	HP:0000662
5191	PEX7	Abnormality of retinal pigmentation	HP:0007703
5191	PEX7	Sensorineural hearing impairment	HP:0000407
5191	PEX7	Arrhythmia	HP:0011675
5191	PEX7	Epiphyseal stippling	HP:0010655
5191	PEX7	Depressed nasal bridge	HP:0005280
5191	PEX7	Retinal degeneration	HP:0000546
5191	PEX7	Abnormality of epiphysis morphology	HP:0005930
5191	PEX7	Respiratory insufficiency	HP:0002093
5191	PEX7	Cleft palate	HP:0000175
5191	PEX7	Heart block	HP:0012722
5191	PEX7	Abnormal renal physiology	HP:0012211
5191	PEX7	Severe short stature	HP:0003510
5191	PEX7	Microphthalmia	HP:0000568
5191	PEX7	Alopecia	HP:0001596
5191	PEX7	Dry skin	HP:0000958
5191	PEX7	Kyphoscoliosis	HP:0002751
5191	PEX7	Short metacarpal	HP:0010049
5191	PEX7	Upslanted palpebral fissure	HP:0000582
5191	PEX7	Flared metaphysis	HP:0003015
5191	PEX7	Developmental regression	HP:0002376
5191	PEX7	Cerebral cortical atrophy	HP:0002120
5191	PEX7	Rhizomelia	HP:0008905
5191	PEX7	Anosmia	HP:0000458
5191	PEX7	Elevated levels of phytanic acid	HP:0010571
5191	PEX7	Splenomegaly	HP:0001744
5191	PEX7	Flat face	HP:0012368
5191	PEX7	Short fourth metatarsal	HP:0004689
5191	PEX7	Calcific stippling of infantile cartilaginous skeleton	HP:0005841
5191	PEX7	Renal insufficiency	HP:0000083
5191	PEX7	Frontal bossing	HP:0002007
5191	PEX7	Abnormal pyramidal sign	HP:0007256
5191	PEX7	Coronal cleft vertebrae	HP:0003417
5191	PEX7	Micrognathia	HP:0000347
5191	PEX7	Flexion contracture	HP:0001371
5191	PEX7	Skeletal dysplasia	HP:0002652
5191	PEX7	Multiple epiphyseal dysplasia	HP:0002654
5191	PEX7	Pes cavus	HP:0001761
5191	PEX7	Intellectual disability	HP:0001249
5191	PEX7	Seizures	HP:0001250
5191	PEX7	Ataxia	HP:0001251
5191	PEX7	Congestive heart failure	HP:0001635
5191	PEX7	Muscular hypotonia	HP:0001252
5191	PEX7	Hammertoe	HP:0001765
5191	PEX7	Sensorimotor neuropathy	HP:0007141
5191	PEX7	Peripheral neuropathy	HP:0009830
5191	PEX7	Cardiomyopathy	HP:0001638
5191	PEX7	Miosis	HP:0000616
5191	PEX7	Retinopathy	HP:0000488
5191	PEX7	Cardiomegaly	HP:0001640
5191	PEX7	Spasticity	HP:0001257
5191	PEX7	Limb muscle weakness	HP:0003690
5191	PEX7	Increased CSF protein	HP:0002922
5191	PEX7	Intellectual disability, severe	HP:0010864
5191	PEX7	Hyporeflexia	HP:0001265
5191	PEX7	Nail dysplasia	HP:0002164
5191	PEX7	Severe failure to thrive	HP:0001525
5191	PEX7	Ptosis	HP:0000508
5191	PEX7	Microcephaly	HP:0000252
5191	PEX7	Rod-cone dystrophy	HP:0000510
5191	PEX7	Nystagmus	HP:0000639
5192	PEX10	Macrocephaly	HP:0000256
5192	PEX10	Multicystic kidney dysplasia	HP:0000003
5192	PEX10	Wide anterior fontanel	HP:0000260
5192	PEX10	Cataract	HP:0000518
5192	PEX10	Autosomal recessive inheritance	HP:0000007
5192	PEX10	Generalized hypotonia	HP:0001290
5192	PEX10	Dolichocephaly	HP:0000268
5192	PEX10	Primary adrenal insufficiency	HP:0008207
5192	PEX10	Abnormal chorioretinal morphology	HP:0000532
5192	PEX10	Corneal opacity	HP:0007957
5192	PEX10	Pachygyria	HP:0001302
5192	PEX10	Limb ataxia	HP:0002070
5192	PEX10	Abnormality of retinal pigmentation	HP:0007703
5192	PEX10	Progressive cerebellar ataxia	HP:0002073
5192	PEX10	Cryptorchidism	HP:0000028
5192	PEX10	Epicanthus	HP:0000286
5192	PEX10	Truncal ataxia	HP:0002078
5192	PEX10	Intention tremor	HP:0002080
5192	PEX10	Reduced tendon reflexes	HP:0001315
5192	PEX10	Neonatal hypotonia	HP:0001319
5192	PEX10	Abnormality of epiphysis morphology	HP:0005930
5192	PEX10	Retinal dystrophy	HP:0000556
5192	PEX10	Respiratory insufficiency	HP:0002093
5192	PEX10	Hypospadias	HP:0000047
5192	PEX10	EEG abnormality	HP:0002353
5192	PEX10	Brushfield spots	HP:0001088
5192	PEX10	Hyperreflexia	HP:0001347
5192	PEX10	Upslanted palpebral fissure	HP:0000582
5192	PEX10	Developmental regression	HP:0002376
5192	PEX10	Progressive gait ataxia	HP:0007240
5192	PEX10	Elevated levels of phytanic acid	HP:0010571
5192	PEX10	Polymicrogyria	HP:0002126
5192	PEX10	Severe global developmental delay	HP:0011344
5192	PEX10	Flat face	HP:0012368
5192	PEX10	Premature birth	HP:0001622
5192	PEX10	Abnormal pyramidal sign	HP:0007256
5192	PEX10	Motor axonal neuropathy	HP:0007002
5192	PEX10	Type II diabetes mellitus	HP:0005978
5192	PEX10	Micrognathia	HP:0000347
5192	PEX10	Impaired smooth pursuit	HP:0007772
5192	PEX10	Skeletal dysplasia	HP:0002652
5192	PEX10	High forehead	HP:0000348
5192	PEX10	Slow progression	HP:0003677
5192	PEX10	Ventricular septal defect	HP:0001629
5192	PEX10	Flat occiput	HP:0005469
5192	PEX10	Rapidly progressive	HP:0003678
5192	PEX10	Colpocephaly	HP:0030048
5192	PEX10	Cardiomyopathy	HP:0001638
5192	PEX10	Distal amyotrophy	HP:0003693
5192	PEX10	Constriction of peripheral visual field	HP:0001133
5192	PEX10	Low-set, posteriorly rotated ears	HP:0000368
5192	PEX10	Abnormality of the liver	HP:0001392
5192	PEX10	Low-set ears	HP:0000369
5192	PEX10	Posterior embryotoxon	HP:0000627
5192	PEX10	Hepatic failure	HP:0001399
5192	PEX10	Distal sensory impairment	HP:0002936
5192	PEX10	External ear malformation	HP:0008572
5192	PEX10	Hydronephrosis	HP:0000126
5192	PEX10	Nystagmus	HP:0000639
5192	PEX10	Ichthyosis	HP:0008064
5192	PEX10	Dysmetric saccades	HP:0000641
5192	PEX10	Decreased liver function	HP:0001410
5192	PEX10	Facial palsy	HP:0010628
5192	PEX10	Optic atrophy	HP:0000648
5192	PEX10	Abnormality of coagulation	HP:0001928
5192	PEX10	Abnormality of metabolism/homeostasis	HP:0001939
5192	PEX10	Nyctalopia	HP:0000662
5192	PEX10	Sensorineural hearing impairment	HP:0000407
5192	PEX10	Abnormal head movements	HP:0002457
5192	PEX10	Arrhythmia	HP:0011675
5192	PEX10	Abnormality of the tongue	HP:0000157
5192	PEX10	Epiphyseal stippling	HP:0010655
5192	PEX10	Depressed nasal bridge	HP:0005280
5192	PEX10	Underdeveloped supraorbital ridges	HP:0009891
5192	PEX10	Feeding difficulties in infancy	HP:0008872
5192	PEX10	Severe muscular hypotonia	HP:0006829
5192	PEX10	Abnormal palate morphology	HP:0000174
5192	PEX10	Bilateral single transverse palmar creases	HP:0007598
5192	PEX10	Wide nasal bridge	HP:0000431
5192	PEX10	Diffuse cerebellar atrophy	HP:0100275
5192	PEX10	Jaundice	HP:0000952
5192	PEX10	Cognitive impairment	HP:0100543
5192	PEX10	Hepatomegaly	HP:0002240
5192	PEX10	Profound global developmental delay	HP:0012736
5192	PEX10	Abnormality of the cerebral white matter	HP:0002500
5192	PEX10	Behavioral abnormality	HP:0000708
5192	PEX10	Anteverted nares	HP:0000463
5192	PEX10	Abnormal circulating phytanic acid level	HP:0010965
5192	PEX10	Clitoral hypertrophy	HP:0008665
5192	PEX10	Thickened nuchal skin fold	HP:0000474
5192	PEX10	High palate	HP:0000218
5192	PEX10	Abnormality of neuronal migration	HP:0002269
5192	PEX10	Pes cavus	HP:0001761
5192	PEX10	Seizures	HP:0001250
5192	PEX10	Short stature	HP:0004322
5192	PEX10	Ataxia	HP:0001251
5192	PEX10	Failure to thrive	HP:0001508
5192	PEX10	Muscular hypotonia	HP:0001252
5192	PEX10	Pyloric stenosis	HP:0002021
5192	PEX10	Strabismus	HP:0000486
5192	PEX10	Generalized neonatal hypotonia	HP:0008935
5192	PEX10	Very long chain fatty acid accumulation	HP:0008167
5192	PEX10	Malabsorption	HP:0002024
5192	PEX10	Intellectual disability, mild	HP:0001256
5192	PEX10	Spasticity	HP:0001257
5192	PEX10	Mydriasis	HP:0011499
5192	PEX10	Dysarthria	HP:0001260
5192	PEX10	Global developmental delay	HP:0001263
5192	PEX10	Hyporeflexia	HP:0001265
5192	PEX10	Death in infancy	HP:0001522
5192	PEX10	Variable expressivity	HP:0003828
5192	PEX10	Glaucoma	HP:0000501
5192	PEX10	Cerebellar atrophy	HP:0001272
5192	PEX10	Visual impairment	HP:0000505
5192	PEX10	Progressive muscle weakness	HP:0003323
5192	PEX10	Microcephaly	HP:0000252
5192	PEX10	Ptosis	HP:0000508
5192	PEX10	Rod-cone dystrophy	HP:0000510
54344	DPM3	Stroke-like episode	HP:0002401
54344	DPM3	Pes planus	HP:0001763
54344	DPM3	Reduced tendon reflexes	HP:0001315
54344	DPM3	Elevated serum creatine kinase	HP:0003236
54344	DPM3	Increased variability in muscle fiber diameter	HP:0003557
54344	DPM3	Pelvic girdle muscle weakness	HP:0003749
54344	DPM3	Autosomal recessive inheritance	HP:0000007
54344	DPM3	Muscular dystrophy	HP:0003560
54344	DPM3	Elevated creatine kinase after exercise	HP:0008331
54344	DPM3	Decreased sialylation of O-linked protein glycosylation	HP:0012363
54344	DPM3	Intellectual disability, profound	HP:0002187
54344	DPM3	Muscle weakness	HP:0001324
54344	DPM3	Dilated cardiomyopathy	HP:0001644
54344	DPM3	Chest pain	HP:0100749
54344	DPM3	Unsteady gait	HP:0002317
54344	DPM3	Waddling gait	HP:0002515
54344	DPM3	Calf muscle hypertrophy	HP:0008981
54344	DPM3	Type I transferrin isoform profile	HP:0003642
54344	DPM3	Adult onset	HP:0003581
54344	DPM3	Rimmed vacuoles	HP:0003805
54344	DPM3	Elevated hepatic transaminase	HP:0002910
54344	DPM3	Gowers sign	HP:0003391
54344	DPM3	Babinski sign	HP:0003487
54345	SOX18	Thin skin	HP:0000963
54345	SOX18	Palmar telangiectasia	HP:0100869
54345	SOX18	Telangiectasia of extensor surfaces	HP:0007621
54345	SOX18	Ascites	HP:0001541
54345	SOX18	Cutis marmorata	HP:0000965
54345	SOX18	Autosomal dominant inheritance	HP:0000006
54345	SOX18	Plantar telangiectasia	HP:0100870
54345	SOX18	Autosomal recessive inheritance	HP:0000007
54345	SOX18	Freckling	HP:0001480
54345	SOX18	Sparse eyelashes	HP:0000653
54345	SOX18	Chronic kidney disease	HP:0012622
54345	SOX18	Sparse and thin eyebrow	HP:0000535
54345	SOX18	Membranoproliferative glomerulonephritis	HP:0000793
54345	SOX18	Pleural effusion	HP:0002202
54345	SOX18	Abnormality of the lymphatic system	HP:0100763
54345	SOX18	Progressive	HP:0003676
54345	SOX18	Facial telangiectasia in butterfly midface distribution	HP:0005598
54345	SOX18	Epicanthus	HP:0000286
54345	SOX18	Predominantly lower limb lymphedema	HP:0003550
54345	SOX18	Sparse scalp hair	HP:0002209
54345	SOX18	Hydrocele testis	HP:0000034
54345	SOX18	Abnormality of the dentition	HP:0000164
54345	SOX18	Prominent nasal bridge	HP:0000426
54345	SOX18	Lymphedema	HP:0001004
54345	SOX18	Oval face	HP:0000300
54345	SOX18	Reduced subcutaneous adipose tissue	HP:0003758
54345	SOX18	Hypotrichosis	HP:0001006
54345	SOX18	Dermal atrophy	HP:0004334
54345	SOX18	Global developmental delay	HP:0001263
54345	SOX18	Absent eyebrow	HP:0002223
54345	SOX18	Mandibular prognathia	HP:0000303
54345	SOX18	Wide nasal bridge	HP:0000431
54345	SOX18	Absent eyelashes	HP:0000561
54345	SOX18	Long nose	HP:0003189
54345	SOX18	Thick vermilion border	HP:0012471
54345	SOX18	Epidermal hyperkeratosis	HP:0007543
54345	SOX18	Sparse body hair	HP:0002231
54345	SOX18	Pulmonary lymphangiectasia	HP:0006521
54345	SOX18	Congenital onset	HP:0003577
54345	SOX18	Alopecia	HP:0001596
54345	SOX18	Palpebral edema	HP:0100540
54345	SOX18	Hydrops fetalis	HP:0001789
54345	SOX18	Abnormality of the nail	HP:0001597
54345	SOX18	Nonimmune hydrops fetalis	HP:0001790
5193	PEX12	Abnormal electroretinogram	HP:0000512
5193	PEX12	Macrocephaly	HP:0000256
5193	PEX12	Multicystic kidney dysplasia	HP:0000003
5193	PEX12	Wide anterior fontanel	HP:0000260
5193	PEX12	Areflexia	HP:0001284
5193	PEX12	Cataract	HP:0000518
5193	PEX12	Autosomal recessive inheritance	HP:0000007
5193	PEX12	Generalized hypotonia	HP:0001290
5193	PEX12	Steatorrhea	HP:0002570
5193	PEX12	Dolichocephaly	HP:0000268
5193	PEX12	Primary adrenal insufficiency	HP:0008207
5193	PEX12	Malar flattening	HP:0000272
5193	PEX12	Abnormal chorioretinal morphology	HP:0000532
5193	PEX12	Corneal opacity	HP:0007957
5193	PEX12	Abnormality of retinal pigmentation	HP:0007703
5193	PEX12	Cryptorchidism	HP:0000028
5193	PEX12	Epicanthus	HP:0000286
5193	PEX12	Reduced tendon reflexes	HP:0001315
5193	PEX12	Abnormality of epiphysis morphology	HP:0005930
5193	PEX12	Respiratory insufficiency	HP:0002093
5193	PEX12	Hypospadias	HP:0000047
5193	PEX12	EEG abnormality	HP:0002353
5193	PEX12	Dilatation	HP:0002617
5193	PEX12	Brushfield spots	HP:0001088
5193	PEX12	Hyperreflexia	HP:0001347
5193	PEX12	Upslanted palpebral fissure	HP:0000582
5193	PEX12	Developmental regression	HP:0002376
5193	PEX12	Hypocholesterolemia	HP:0003146
5193	PEX12	Elevated levels of phytanic acid	HP:0010571
5193	PEX12	Polymicrogyria	HP:0002126
5193	PEX12	Flat face	HP:0012368
5193	PEX12	Severe global developmental delay	HP:0011344
5193	PEX12	Premature birth	HP:0001622
5193	PEX12	Micrognathia	HP:0000347
5193	PEX12	Skeletal dysplasia	HP:0002652
5193	PEX12	High forehead	HP:0000348
5193	PEX12	Ventricular septal defect	HP:0001629
5193	PEX12	Flat occiput	HP:0005469
5193	PEX12	Abnormal bleeding	HP:0001892
5193	PEX12	Cardiomyopathy	HP:0001638
5193	PEX12	Constriction of peripheral visual field	HP:0001133
5193	PEX12	Low-set, posteriorly rotated ears	HP:0000368
5193	PEX12	Abnormality of the liver	HP:0001392
5193	PEX12	Polycystic kidney dysplasia	HP:0000113
5193	PEX12	Low-set ears	HP:0000369
5193	PEX12	Posterior embryotoxon	HP:0000627
5193	PEX12	Hepatic failure	HP:0001399
5193	PEX12	External ear malformation	HP:0008572
5193	PEX12	Hydronephrosis	HP:0000126
5193	PEX12	Nystagmus	HP:0000639
5193	PEX12	Ichthyosis	HP:0008064
5193	PEX12	Facial palsy	HP:0010628
5193	PEX12	Optic atrophy	HP:0000648
5193	PEX12	Abnormality of coagulation	HP:0001928
5193	PEX12	Abnormality of metabolism/homeostasis	HP:0001939
5193	PEX12	Nyctalopia	HP:0000662
5193	PEX12	Sensorineural hearing impairment	HP:0000407
5193	PEX12	Arrhythmia	HP:0011675
5193	PEX12	Abnormality of the tongue	HP:0000157
5193	PEX12	Epiphyseal stippling	HP:0010655
5193	PEX12	Depressed nasal bridge	HP:0005280
5193	PEX12	Underdeveloped supraorbital ridges	HP:0009891
5193	PEX12	Feeding difficulties in infancy	HP:0008872
5193	PEX12	Osteoporosis	HP:0000939
5193	PEX12	Severe muscular hypotonia	HP:0006829
5193	PEX12	Abnormal palate morphology	HP:0000174
5193	PEX12	Bilateral single transverse palmar creases	HP:0007598
5193	PEX12	Wide nasal bridge	HP:0000431
5193	PEX12	Jaundice	HP:0000952
5193	PEX12	Single transverse palmar crease	HP:0000954
5193	PEX12	Cognitive impairment	HP:0100543
5193	PEX12	Hepatomegaly	HP:0002240
5193	PEX12	Profound global developmental delay	HP:0012736
5193	PEX12	Behavioral abnormality	HP:0000708
5193	PEX12	Depressed nasal ridge	HP:0000457
5193	PEX12	Anteverted nares	HP:0000463
5193	PEX12	Clitoral hypertrophy	HP:0008665
5193	PEX12	Thickened nuchal skin fold	HP:0000474
5193	PEX12	High palate	HP:0000218
5193	PEX12	Abnormality of neuronal migration	HP:0002269
5193	PEX12	Intellectual disability	HP:0001249
5193	PEX12	Seizures	HP:0001250
5193	PEX12	Short stature	HP:0004322
5193	PEX12	Ataxia	HP:0001251
5193	PEX12	Failure to thrive	HP:0001508
5193	PEX12	Muscular hypotonia	HP:0001252
5193	PEX12	Pyloric stenosis	HP:0002021
5193	PEX12	Strabismus	HP:0000486
5193	PEX12	Very long chain fatty acid accumulation	HP:0008167
5193	PEX12	Generalized neonatal hypotonia	HP:0008935
5193	PEX12	Malabsorption	HP:0002024
5193	PEX12	Spasticity	HP:0001257
5193	PEX12	Global developmental delay	HP:0001263
5193	PEX12	Hyporeflexia	HP:0001265
5193	PEX12	Death in infancy	HP:0001522
5193	PEX12	Glaucoma	HP:0000501
5193	PEX12	Polyneuropathy	HP:0001271
5193	PEX12	Congenital onset	HP:0003577
5193	PEX12	Visual impairment	HP:0000505
5193	PEX12	Progressive muscle weakness	HP:0003323
5193	PEX12	Microcephaly	HP:0000252
5193	PEX12	Ptosis	HP:0000508
5193	PEX12	Rod-cone dystrophy	HP:0000510
5194	PEX13	Macrocephaly	HP:0000256
5194	PEX13	Multicystic kidney dysplasia	HP:0000003
5194	PEX13	Wide anterior fontanel	HP:0000260
5194	PEX13	Cataract	HP:0000518
5194	PEX13	Autosomal recessive inheritance	HP:0000007
5194	PEX13	Generalized hypotonia	HP:0001290
5194	PEX13	Dolichocephaly	HP:0000268
5194	PEX13	Primary adrenal insufficiency	HP:0008207
5194	PEX13	Abnormal chorioretinal morphology	HP:0000532
5194	PEX13	Corneal opacity	HP:0007957
5194	PEX13	Abnormality of retinal pigmentation	HP:0007703
5194	PEX13	Cryptorchidism	HP:0000028
5194	PEX13	Epicanthus	HP:0000286
5194	PEX13	Reduced tendon reflexes	HP:0001315
5194	PEX13	Abnormality of epiphysis morphology	HP:0005930
5194	PEX13	Muscle weakness	HP:0001324
5194	PEX13	Respiratory insufficiency	HP:0002093
5194	PEX13	Hypospadias	HP:0000047
5194	PEX13	EEG abnormality	HP:0002353
5194	PEX13	Apnea	HP:0002104
5194	PEX13	Lissencephaly	HP:0001339
5194	PEX13	Visual loss	HP:0000572
5194	PEX13	Brushfield spots	HP:0001088
5194	PEX13	Hyperreflexia	HP:0001347
5194	PEX13	Triangular face	HP:0000325
5194	PEX13	Upslanted palpebral fissure	HP:0000582
5194	PEX13	Developmental regression	HP:0002376
5194	PEX13	Elevated levels of phytanic acid	HP:0010571
5194	PEX13	Polymicrogyria	HP:0002126
5194	PEX13	Flat face	HP:0012368
5194	PEX13	Severe global developmental delay	HP:0011344
5194	PEX13	Premature birth	HP:0001622
5194	PEX13	Micrognathia	HP:0000347
5194	PEX13	High forehead	HP:0000348
5194	PEX13	Skeletal dysplasia	HP:0002652
5194	PEX13	Ventricular septal defect	HP:0001629
5194	PEX13	Flat occiput	HP:0005469
5194	PEX13	Elevated hepatic transaminase	HP:0002910
5194	PEX13	CNS hypomyelination	HP:0003429
5194	PEX13	Cardiomyopathy	HP:0001638
5194	PEX13	Renal cyst	HP:0000107
5194	PEX13	Hearing abnormality	HP:0000364
5194	PEX13	Constriction of peripheral visual field	HP:0001133
5194	PEX13	Hearing impairment	HP:0000365
5194	PEX13	Low-set, posteriorly rotated ears	HP:0000368
5194	PEX13	Abnormality of the liver	HP:0001392
5194	PEX13	Posterior embryotoxon	HP:0000627
5194	PEX13	Hepatic failure	HP:0001399
5194	PEX13	Large face	HP:0100729
5194	PEX13	External ear malformation	HP:0008572
5194	PEX13	Hydronephrosis	HP:0000126
5194	PEX13	Nystagmus	HP:0000639
5194	PEX13	Ichthyosis	HP:0008064
5194	PEX13	Decreased liver function	HP:0001410
5194	PEX13	Facial palsy	HP:0010628
5194	PEX13	Central hypotonia	HP:0011398
5194	PEX13	Optic atrophy	HP:0000648
5194	PEX13	Abnormality of coagulation	HP:0001928
5194	PEX13	Abnormality of metabolism/homeostasis	HP:0001939
5194	PEX13	Nyctalopia	HP:0000662
5194	PEX13	Sensorineural hearing impairment	HP:0000407
5194	PEX13	Arrhythmia	HP:0011675
5194	PEX13	Abnormality of the tongue	HP:0000157
5194	PEX13	Epiphyseal stippling	HP:0010655
5194	PEX13	Depressed nasal bridge	HP:0005280
5194	PEX13	Underdeveloped supraorbital ridges	HP:0009891
5194	PEX13	Feeding difficulties in infancy	HP:0008872
5194	PEX13	Respiratory tract infection	HP:0011947
5194	PEX13	Severe muscular hypotonia	HP:0006829
5194	PEX13	Abnormal palate morphology	HP:0000174
5194	PEX13	Bilateral single transverse palmar creases	HP:0007598
5194	PEX13	Wide nasal bridge	HP:0000431
5194	PEX13	Jaundice	HP:0000952
5194	PEX13	Multiple renal cysts	HP:0005562
5194	PEX13	Cognitive impairment	HP:0100543
5194	PEX13	Profound global developmental delay	HP:0012736
5194	PEX13	Hepatomegaly	HP:0002240
5194	PEX13	Feeding difficulties	HP:0011968
5194	PEX13	Behavioral abnormality	HP:0000708
5194	PEX13	Anteverted nares	HP:0000463
5194	PEX13	Clitoral hypertrophy	HP:0008665
5194	PEX13	Thickened nuchal skin fold	HP:0000474
5194	PEX13	High palate	HP:0000218
5194	PEX13	Abnormality of neuronal migration	HP:0002269
5194	PEX13	Seizures	HP:0001250
5194	PEX13	Short stature	HP:0004322
5194	PEX13	Ataxia	HP:0001251
5194	PEX13	Failure to thrive	HP:0001508
5194	PEX13	Muscular hypotonia	HP:0001252
5194	PEX13	Pyloric stenosis	HP:0002021
5194	PEX13	Strabismus	HP:0000486
5194	PEX13	Very long chain fatty acid accumulation	HP:0008167
5194	PEX13	Malabsorption	HP:0002024
5194	PEX13	Spasticity	HP:0001257
5194	PEX13	Global developmental delay	HP:0001263
5194	PEX13	Large fontanelles	HP:0000239
5194	PEX13	Death in infancy	HP:0001522
5194	PEX13	Infantile muscular hypotonia	HP:0008947
5194	PEX13	Glaucoma	HP:0000501
5194	PEX13	Visual impairment	HP:0000505
5194	PEX13	Progressive muscle weakness	HP:0003323
5194	PEX13	Microcephaly	HP:0000252
5194	PEX13	Ptosis	HP:0000508
5194	PEX13	Rod-cone dystrophy	HP:0000510
5195	PEX14	Macrocephaly	HP:0000256
5195	PEX14	Ichthyosis	HP:0008064
5195	PEX14	Multicystic kidney dysplasia	HP:0000003
5195	PEX14	Wide anterior fontanel	HP:0000260
5195	PEX14	Facial palsy	HP:0010628
5195	PEX14	Cataract	HP:0000518
5195	PEX14	Central hypotonia	HP:0011398
5195	PEX14	Autosomal recessive inheritance	HP:0000007
5195	PEX14	Optic atrophy	HP:0000648
5195	PEX14	Abnormality of coagulation	HP:0001928
5195	PEX14	Generalized hypotonia	HP:0001290
5195	PEX14	Dolichocephaly	HP:0000268
5195	PEX14	Primary adrenal insufficiency	HP:0008207
5195	PEX14	Abnormality of metabolism/homeostasis	HP:0001939
5195	PEX14	Abnormal chorioretinal morphology	HP:0000532
5195	PEX14	Corneal opacity	HP:0007957
5195	PEX14	Nyctalopia	HP:0000662
5195	PEX14	Sensorineural hearing impairment	HP:0000407
5195	PEX14	Abnormality of retinal pigmentation	HP:0007703
5195	PEX14	Arrhythmia	HP:0011675
5195	PEX14	Cryptorchidism	HP:0000028
5195	PEX14	Abnormality of the tongue	HP:0000157
5195	PEX14	Epicanthus	HP:0000286
5195	PEX14	Epiphyseal stippling	HP:0010655
5195	PEX14	Depressed nasal bridge	HP:0005280
5195	PEX14	Underdeveloped supraorbital ridges	HP:0009891
5195	PEX14	Reduced tendon reflexes	HP:0001315
5195	PEX14	Abnormality of the nasal bridge	HP:0000422
5195	PEX14	Feeding difficulties in infancy	HP:0008872
5195	PEX14	Abnormality of epiphysis morphology	HP:0005930
5195	PEX14	Respiratory insufficiency	HP:0002093
5195	PEX14	Severe muscular hypotonia	HP:0006829
5195	PEX14	Abnormal palate morphology	HP:0000174
5195	PEX14	Bilateral single transverse palmar creases	HP:0007598
5195	PEX14	Hypospadias	HP:0000047
5195	PEX14	Wide nasal bridge	HP:0000431
5195	PEX14	EEG abnormality	HP:0002353
5195	PEX14	Jaundice	HP:0000952
5195	PEX14	Cognitive impairment	HP:0100543
5195	PEX14	Profound global developmental delay	HP:0012736
5195	PEX14	Brushfield spots	HP:0001088
5195	PEX14	Hepatomegaly	HP:0002240
5195	PEX14	Feeding difficulties	HP:0011968
5195	PEX14	Hyperreflexia	HP:0001347
5195	PEX14	Behavioral abnormality	HP:0000708
5195	PEX14	Delayed closure of the anterior fontanelle	HP:0001476
5195	PEX14	Triangular face	HP:0000325
5195	PEX14	Upslanted palpebral fissure	HP:0000582
5195	PEX14	Developmental regression	HP:0002376
5195	PEX14	Elevated levels of phytanic acid	HP:0010571
5195	PEX14	Polymicrogyria	HP:0002126
5195	PEX14	Anteverted nares	HP:0000463
5195	PEX14	Flat face	HP:0012368
5195	PEX14	Severe global developmental delay	HP:0011344
5195	PEX14	Premature birth	HP:0001622
5195	PEX14	Clitoral hypertrophy	HP:0008665
5195	PEX14	Thickened nuchal skin fold	HP:0000474
5195	PEX14	High palate	HP:0000218
5195	PEX14	Micrognathia	HP:0000347
5195	PEX14	Skeletal dysplasia	HP:0002652
5195	PEX14	High forehead	HP:0000348
5195	PEX14	Ventricular septal defect	HP:0001629
5195	PEX14	Flat occiput	HP:0005469
5195	PEX14	Abnormality of neuronal migration	HP:0002269
5195	PEX14	Abnormality of the eye	HP:0000478
5195	PEX14	Seizures	HP:0001250
5195	PEX14	Short stature	HP:0004322
5195	PEX14	Ataxia	HP:0001251
5195	PEX14	Failure to thrive	HP:0001508
5195	PEX14	Muscular hypotonia	HP:0001252
5195	PEX14	Pyloric stenosis	HP:0002021
5195	PEX14	Cardiomyopathy	HP:0001638
5195	PEX14	Strabismus	HP:0000486
5195	PEX14	Very long chain fatty acid accumulation	HP:0008167
5195	PEX14	Malabsorption	HP:0002024
5195	PEX14	Spasticity	HP:0001257
5195	PEX14	Constriction of peripheral visual field	HP:0001133
5195	PEX14	Global developmental delay	HP:0001263
5195	PEX14	Large fontanelles	HP:0000239
5195	PEX14	Low-set, posteriorly rotated ears	HP:0000368
5195	PEX14	Abnormality of the liver	HP:0001392
5195	PEX14	Death in infancy	HP:0001522
5195	PEX14	Posterior embryotoxon	HP:0000627
5195	PEX14	Glaucoma	HP:0000501
5195	PEX14	Hepatic failure	HP:0001399
5195	PEX14	Visual impairment	HP:0000505
5195	PEX14	Progressive muscle weakness	HP:0003323
5195	PEX14	External ear malformation	HP:0008572
5195	PEX14	Microcephaly	HP:0000252
5195	PEX14	Ptosis	HP:0000508
5195	PEX14	Hydronephrosis	HP:0000126
5195	PEX14	Rod-cone dystrophy	HP:0000510
5195	PEX14	Nystagmus	HP:0000639
5199	CFP	Abnormality of metabolism/homeostasis	HP:0001939
5199	CFP	X-linked recessive inheritance	HP:0001419
5199	CFP	Dysfunctional alternative complement pathway	HP:0005423
5205	ATP8B1	Hepatomegaly	HP:0002240
5205	ATP8B1	Failure to thrive	HP:0001508
5205	ATP8B1	Pancreatitis	HP:0001733
5205	ATP8B1	Fat malabsorption	HP:0002630
5205	ATP8B1	Autosomal dominant inheritance	HP:0000006
5205	ATP8B1	Autosomal recessive inheritance	HP:0000007
5205	ATP8B1	Infantile onset	HP:0003593
5205	ATP8B1	Increased serum bile acid concentration	HP:0012202
5205	ATP8B1	Hearing impairment	HP:0000365
5205	ATP8B1	Intrahepatic cholestasis with episodic jaundice	HP:0006575
5205	ATP8B1	Splenomegaly	HP:0001744
5205	ATP8B1	Cirrhosis	HP:0001394
5205	ATP8B1	Increased serum bile acid concentration during pregnancy	HP:0200150
5205	ATP8B1	Severe short stature	HP:0003510
5205	ATP8B1	Premature birth	HP:0001622
5205	ATP8B1	Intermittent jaundice	HP:0001046
5205	ATP8B1	Abnormal liver function tests during pregnancy	HP:0200148
5205	ATP8B1	Jaundice	HP:0000952
5205	ATP8B1	Conjugated hyperbilirubinemia	HP:0002908
5205	ATP8B1	Fetal distress	HP:0025116
5205	ATP8B1	Pruritus	HP:0000989
5205	ATP8B1	Diarrhea	HP:0002014
5205	ATP8B1	Intrahepatic cholestasis	HP:0001406
5205	ATP8B1	Elevated hepatic transaminase	HP:0002910
54361	WNT4	Short philtrum	HP:0000322
54361	WNT4	Abnormality of the adrenal glands	HP:0000834
54361	WNT4	Brachydactyly	HP:0001156
54361	WNT4	Autosomal dominant inheritance	HP:0000006
54361	WNT4	Autosomal recessive inheritance	HP:0000007
54361	WNT4	Increased serum testosterone level	HP:0030088
54361	WNT4	Congenital diaphragmatic hernia	HP:0000776
54361	WNT4	Abnormality of the ovary	HP:0000137
54361	WNT4	Oral cleft	HP:0000202
54361	WNT4	Hypoplasia of the uterus	HP:0000013
54361	WNT4	Amenorrhea	HP:0000141
54361	WNT4	Abnormal vagina morphology	HP:0000142
54361	WNT4	Aplasia/Hypoplasia of the fallopian tube	HP:0008655
54361	WNT4	Facial hirsutism	HP:0009937
54361	WNT4	Primary amenorrhea	HP:0000786
54361	WNT4	Shield chest	HP:0000914
54361	WNT4	Sex reversal	HP:0012245
54361	WNT4	Short neck	HP:0000470
54361	WNT4	Cubitus valgus	HP:0002967
54361	WNT4	Aplasia of the uterus	HP:0000151
54361	WNT4	Synophrys	HP:0000664
54361	WNT4	Oligohydramnios	HP:0001562
54361	WNT4	Protruding ear	HP:0000411
54361	WNT4	Ventricular septal defect	HP:0001629
54361	WNT4	Hypoplasia of the bladder	HP:0005343
54361	WNT4	Adrenal gland agenesis	HP:0011743
54361	WNT4	Short stature	HP:0004322
54361	WNT4	High anterior hairline	HP:0009890
54361	WNT4	Acne	HP:0001061
54361	WNT4	Growth delay	HP:0001510
54361	WNT4	Intrauterine growth retardation	HP:0001511
54361	WNT4	Renal agenesis	HP:0000104
54361	WNT4	Cleft lip	HP:0410030
54361	WNT4	Obesity	HP:0001513
54361	WNT4	Pulmonary hypoplasia	HP:0002089
54361	WNT4	Pulmonic stenosis	HP:0001642
54361	WNT4	Cleft palate	HP:0000175
54361	WNT4	Hypospadias	HP:0000047
54361	WNT4	Hirsutism	HP:0001007
54361	WNT4	Low-set ears	HP:0000369
54361	WNT4	Aplasia of the vagina	HP:0003250
54361	WNT4	Frontal balding	HP:0002292
54361	WNT4	Bilateral lung agenesis	HP:0005944
54361	WNT4	Malrotation of small bowel	HP:0004794
54361	WNT4	Unilateral renal agenesis	HP:0000122
54361	WNT4	Ovotestis	HP:0012861
54361	WNT4	Thick eyebrow	HP:0000574
54361	WNT4	Pulmonary artery stenosis	HP:0004415
5213	PFKM	Skeletal muscle atrophy	HP:0003202
5213	PFKM	Reticulocytosis	HP:0001923
5213	PFKM	Hyperuricemia	HP:0002149
5213	PFKM	Autosomal recessive inheritance	HP:0000007
5213	PFKM	Muscle weakness	HP:0001324
5213	PFKM	Gout	HP:0001997
5213	PFKM	Anemia	HP:0001903
5213	PFKM	Exercise-induced myoglobinuria	HP:0008305
5213	PFKM	Variable expressivity	HP:0003828
5213	PFKM	Increased total bilirubin	HP:0003573
5213	PFKM	Hemolytic anemia	HP:0001878
5213	PFKM	Myotonia	HP:0002486
5213	PFKM	Jaundice	HP:0000952
5213	PFKM	Cholelithiasis	HP:0001081
5213	PFKM	Exercise intolerance	HP:0003546
5213	PFKM	Increased muscle glycogen content	HP:0009051
5213	PFKM	Exercise-induced muscle cramps	HP:0003710
5213	PFKM	Reduced erythrocyte 2,3-diphosphoglycerate concentration	HP:0030271
5216	PFN1	Skeletal muscle atrophy	HP:0003202
5216	PFN1	Muscle spasm	HP:0003394
5216	PFN1	Neurodegeneration	HP:0002180
5216	PFN1	Autosomal dominant inheritance	HP:0000006
5216	PFN1	Emotional lability	HP:0000712
5216	PFN1	Agitation	HP:0000713
5216	PFN1	Depressivity	HP:0000716
5216	PFN1	Fasciculations	HP:0002380
5216	PFN1	Paralysis	HP:0003470
5216	PFN1	Laryngospasm	HP:0025425
5216	PFN1	Xerostomia	HP:0000217
5216	PFN1	Fatigue	HP:0012378
5216	PFN1	Dysphagia	HP:0002015
5216	PFN1	Nausea and vomiting	HP:0002017
5216	PFN1	Anxiety	HP:0000739
5216	PFN1	Spasticity	HP:0001257
5216	PFN1	Dysarthria	HP:0001260
5216	PFN1	Muscle weakness	HP:0001324
5216	PFN1	Dyspnea	HP:0002094
5216	PFN1	Fatigable weakness of swallowing muscles	HP:0030195
5216	PFN1	Pain	HP:0012531
5216	PFN1	Fatigable weakness of respiratory muscles	HP:0030196
5216	PFN1	Amyotrophic lateral sclerosis	HP:0007354
5216	PFN1	Generalized muscle weakness	HP:0003324
5216	PFN1	Respiratory failure	HP:0002878
5224	PGAM2	Myoglobinuria	HP:0002913
5224	PGAM2	Rhabdomyolysis	HP:0003201
5224	PGAM2	Renal insufficiency	HP:0000083
5224	PGAM2	Elevated serum creatine kinase	HP:0003236
5224	PGAM2	Autosomal recessive inheritance	HP:0000007
5224	PGAM2	Exercise-induced myalgia	HP:0003738
5224	PGAM2	Exercise intolerance	HP:0003546
5224	PGAM2	Exercise-induced muscle cramps	HP:0003710
5224	PGAM2	Myopathy	HP:0003198
5230	PGK1	Intellectual disability	HP:0001249
5230	PGK1	Rhabdomyolysis	HP:0003201
5230	PGK1	Seizures	HP:0001250
5230	PGK1	Ataxia	HP:0001251
5230	PGK1	Reticulocytosis	HP:0001923
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
54386	TERF2IP	Neoplasm of the stomach	HP:0006753
54386	TERF2IP	Nevus	HP:0003764
54386	TERF2IP	Abnormality of extrapyramidal motor function	HP:0002071
54386	TERF2IP	Retinopathy	HP:0000488
54386	TERF2IP	Freckling	HP:0001480
54386	TERF2IP	Abnormality of the lymphatic system	HP:0100763
54386	TERF2IP	Abnormal hair morphology	HP:0001595
54386	TERF2IP	Neoplasm of the breast	HP:0100013
54386	TERF2IP	Melanoma	HP:0002861
54386	TERF2IP	Neoplasm of the pancreas	HP:0002894
54386	TERF2IP	Dry skin	HP:0000958
5236	PGM1	Rhabdomyolysis	HP:0003201
5236	PGM1	Bifid uvula	HP:0000193
5236	PGM1	Short stature	HP:0004322
5236	PGM1	Elevated serum creatine kinase	HP:0003236
5236	PGM1	Autosomal recessive inheritance	HP:0000007
5236	PGM1	Pierre-Robin sequence	HP:0000201
5236	PGM1	Dilated cardiomyopathy	HP:0001644
5236	PGM1	Muscle weakness	HP:0001324
5236	PGM1	Dyspnea	HP:0002094
5236	PGM1	Cleft palate	HP:0000175
5236	PGM1	Tachycardia	HP:0001649
5236	PGM1	Hepatitis	HP:0012115
5236	PGM1	Hepatic steatosis	HP:0001397
5236	PGM1	Delayed puberty	HP:0000823
5236	PGM1	Hypoglycemia	HP:0001943
5236	PGM1	Reduced antithrombin III activity	HP:0001976
5236	PGM1	Cerebral venous thrombosis	HP:0005305
5236	PGM1	Exercise intolerance	HP:0003546
5236	PGM1	Type I transferrin isoform profile	HP:0003642
5236	PGM1	Fatigue	HP:0012378
5236	PGM1	Micrognathia	HP:0000347
5236	PGM1	Elevated hepatic transaminase	HP:0002910
5238	PGM3	Eczema	HP:0000964
5238	PGM3	Autosomal recessive inheritance	HP:0000007
5238	PGM3	Generalized hypotonia	HP:0001290
5238	PGM3	Sensory impairment	HP:0003474
5238	PGM3	Neutropenia	HP:0001875
5238	PGM3	Cortical myoclonus	HP:0040148
5238	PGM3	Conductive hearing impairment	HP:0000405
5238	PGM3	Hemolytic anemia	HP:0001878
5238	PGM3	Sensorineural hearing impairment	HP:0000407
5238	PGM3	Membranoproliferative glomerulonephritis	HP:0000793
5238	PGM3	High palate	HP:0000218
5238	PGM3	Scoliosis	HP:0002650
5238	PGM3	Recurrent respiratory infections	HP:0002205
5238	PGM3	Vasculitis in the skin	HP:0200029
5238	PGM3	Erythema	HP:0010783
5238	PGM3	Lymphopenia	HP:0001888
5238	PGM3	Intellectual disability	HP:0001249
5238	PGM3	Immunodeficiency	HP:0002721
5238	PGM3	Ataxia	HP:0001251
5238	PGM3	Dysarthria	HP:0001260
5238	PGM3	Global developmental delay	HP:0001263
5238	PGM3	Hyporeflexia	HP:0001265
5238	PGM3	Asthma	HP:0002099
5238	PGM3	Allergic rhinitis	HP:0003193
5238	PGM3	Bronchiectasis	HP:0002110
5238	PGM3	Cognitive impairment	HP:0100543
5241	PGR	Abnormality of metabolism/homeostasis	HP:0001939
5241	PGR	Autosomal recessive inheritance	HP:0000007
5241	PGR	Female infertility	HP:0008222
100151683	RNU4ATAC	Absent knee epiphyses	HP:0006400
100151683	RNU4ATAC	Aplastic clavicle	HP:0006660
100151683	RNU4ATAC	Autosomal recessive inheritance	HP:0000007
100151683	RNU4ATAC	Proptosis	HP:0000520
100151683	RNU4ATAC	Cleft vertebral arch	HP:0004616
100151683	RNU4ATAC	Generalized hypotonia	HP:0001290
100151683	RNU4ATAC	Dislocated radial head	HP:0003083
100151683	RNU4ATAC	Hip dislocation	HP:0002827
100151683	RNU4ATAC	Dolichocephaly	HP:0000268
100151683	RNU4ATAC	Prominent occiput	HP:0000269
100151683	RNU4ATAC	Arthralgia	HP:0002829
100151683	RNU4ATAC	Rigidity	HP:0002063
100151683	RNU4ATAC	Malar flattening	HP:0000272
100151683	RNU4ATAC	Noncompaction cardiomyopathy	HP:0012817
100151683	RNU4ATAC	Biconvex vertebral bodies	HP:0004625
100151683	RNU4ATAC	Thin eyebrow	HP:0045074
100151683	RNU4ATAC	Retrognathia	HP:0000278
100151683	RNU4ATAC	Pachygyria	HP:0001302
100151683	RNU4ATAC	Abnormality of retinal pigmentation	HP:0007703
100151683	RNU4ATAC	Sparse and thin eyebrow	HP:0000535
100151683	RNU4ATAC	Bowed humerus	HP:0003865
100151683	RNU4ATAC	Short femur	HP:0003097
100151683	RNU4ATAC	Oligohydramnios	HP:0001562
100151683	RNU4ATAC	Cryptorchidism	HP:0000028
100151683	RNU4ATAC	Agenesis of cerebellar vermis	HP:0002335
100151683	RNU4ATAC	Abnormality of nail color	HP:0100643
100151683	RNU4ATAC	Short toe	HP:0001831
100151683	RNU4ATAC	Long foot	HP:0001833
100151683	RNU4ATAC	Retinal dystrophy	HP:0000556
100151683	RNU4ATAC	Dyspnea	HP:0002094
100151683	RNU4ATAC	Specific learning disability	HP:0001328
100151683	RNU4ATAC	Micropenis	HP:0000054
100151683	RNU4ATAC	Alopecia	HP:0001596
100151683	RNU4ATAC	Respiratory failure	HP:0002878
100151683	RNU4ATAC	Short metacarpal	HP:0010049
100151683	RNU4ATAC	Hydroureter	HP:0000072
100151683	RNU4ATAC	Absence seizure	HP:0002121
100151683	RNU4ATAC	Sloping forehead	HP:0000340
100151683	RNU4ATAC	Status epilepticus	HP:0002133
100151683	RNU4ATAC	Premature birth	HP:0001622
100151683	RNU4ATAC	Irregular epiphyses	HP:0010582
100151683	RNU4ATAC	Long philtrum	HP:0000343
100151683	RNU4ATAC	Eosinophilia	HP:0001880
100151683	RNU4ATAC	Epileptic spasms	HP:0011097
100151683	RNU4ATAC	Renal hypoplasia	HP:0000089
100151683	RNU4ATAC	Micrognathia	HP:0000347
100151683	RNU4ATAC	Ventricular septal defect	HP:0001629
100151683	RNU4ATAC	Spondyloepiphyseal dysplasia	HP:0002655
100151683	RNU4ATAC	Atrial septal defect	HP:0001631
100151683	RNU4ATAC	Epiphyseal dysplasia	HP:0002656
100151683	RNU4ATAC	Limb undergrowth	HP:0009826
100151683	RNU4ATAC	Abnormality of the pubic bone	HP:0003172
100151683	RNU4ATAC	Tetralogy of Fallot	HP:0001636
100151683	RNU4ATAC	Posteriorly rotated ears	HP:0000358
100151683	RNU4ATAC	Microtia	HP:0008551
100151683	RNU4ATAC	Joint stiffness	HP:0001387
100151683	RNU4ATAC	Renal cyst	HP:0000107
100151683	RNU4ATAC	Broad distal phalanx of finger	HP:0009836
100151683	RNU4ATAC	11 pairs of ribs	HP:0000878
100151683	RNU4ATAC	Clinodactyly of the 5th finger	HP:0004209
100151683	RNU4ATAC	Low-set ears	HP:0000369
100151683	RNU4ATAC	Large iliac wings	HP:0008818
100151683	RNU4ATAC	Long nose	HP:0003189
100151683	RNU4ATAC	Abnormality of the pinna	HP:0000377
100151683	RNU4ATAC	Long clavicles	HP:0000890
100151683	RNU4ATAC	Long palpebral fissure	HP:0000637
100151683	RNU4ATAC	Hydronephrosis	HP:0000126
100151683	RNU4ATAC	Nystagmus	HP:0000639
100151683	RNU4ATAC	Brachydactyly	HP:0001156
100151683	RNU4ATAC	Recurrent pneumonia	HP:0006532
100151683	RNU4ATAC	Abnormality of the metacarpal bones	HP:0001163
100151683	RNU4ATAC	Sparse eyelashes	HP:0000653
100151683	RNU4ATAC	Coarctation of aorta	HP:0001680
100151683	RNU4ATAC	Recurrent otitis media	HP:0000403
100151683	RNU4ATAC	Short digit	HP:0011927
100151683	RNU4ATAC	Large hands	HP:0001176
100151683	RNU4ATAC	Downturned corners of mouth	HP:0002714
100151683	RNU4ATAC	Lymphadenopathy	HP:0002716
100151683	RNU4ATAC	Bulbous nose	HP:0000414
100151683	RNU4ATAC	Platyspondyly	HP:0000926
100151683	RNU4ATAC	Short humerus	HP:0005792
100151683	RNU4ATAC	Sparse scalp hair	HP:0002209
100151683	RNU4ATAC	Femoral bowing	HP:0002980
100151683	RNU4ATAC	Hypoplasia of the frontal lobes	HP:0007333
100151683	RNU4ATAC	Micromelia	HP:0002983
100151683	RNU4ATAC	Osteopenia	HP:0000938
100151683	RNU4ATAC	Disproportionate short stature	HP:0003498
100151683	RNU4ATAC	Osteoporosis	HP:0000939
100151683	RNU4ATAC	Elbow flexion contracture	HP:0002987
100151683	RNU4ATAC	Bilateral single transverse palmar creases	HP:0007598
100151683	RNU4ATAC	Underdeveloped nasal alae	HP:0000430
100151683	RNU4ATAC	Abnormality of the metaphysis	HP:0000944
100151683	RNU4ATAC	Submucous cleft hard palate	HP:0000176
100151683	RNU4ATAC	Hypoplastic ilia	HP:0000946
100151683	RNU4ATAC	Abnormal calcium-phosphate regulating hormone level	HP:0100530
100151683	RNU4ATAC	Prolonged neonatal jaundice	HP:0006579
100151683	RNU4ATAC	Severe short stature	HP:0003510
100151683	RNU4ATAC	Short palm	HP:0004279
100151683	RNU4ATAC	Thick vermilion border	HP:0012471
100151683	RNU4ATAC	Patellar dislocation	HP:0002999
100151683	RNU4ATAC	Abnormality of the tragus	HP:0009912
100151683	RNU4ATAC	Single transverse palmar crease	HP:0000954
100151683	RNU4ATAC	Rickets	HP:0002748
100151683	RNU4ATAC	Osteomalacia	HP:0002749
100151683	RNU4ATAC	Delayed skeletal maturation	HP:0002750
100151683	RNU4ATAC	Dry skin	HP:0000958
100151683	RNU4ATAC	Prominent nose	HP:0000448
100151683	RNU4ATAC	Hepatomegaly	HP:0002240
100151683	RNU4ATAC	Bifid uvula	HP:0000193
100151683	RNU4ATAC	Loss of eyelashes	HP:0011457
100151683	RNU4ATAC	Postnatal growth retardation	HP:0008897
100151683	RNU4ATAC	Hyperkeratosis	HP:0000962
100151683	RNU4ATAC	Eczema	HP:0000964
100151683	RNU4ATAC	Hip contracture	HP:0003273
100151683	RNU4ATAC	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
100151683	RNU4ATAC	Bifid femur	HP:0010443
100151683	RNU4ATAC	Narrow nose	HP:0000460
100151683	RNU4ATAC	Anteverted nares	HP:0000463
100151683	RNU4ATAC	Splenomegaly	HP:0001744
100151683	RNU4ATAC	Short neck	HP:0000470
100151683	RNU4ATAC	Abnormally ossified vertebrae	HP:0100569
100151683	RNU4ATAC	Irregular femoral epiphysis	HP:0006361
100151683	RNU4ATAC	Thickened nuchal skin fold	HP:0000474
100151683	RNU4ATAC	Thin upper lip vermilion	HP:0000219
100151683	RNU4ATAC	Prominent eyelashes	HP:0011231
100151683	RNU4ATAC	Muscle stiffness	HP:0003552
100151683	RNU4ATAC	Intellectual disability	HP:0001249
100151683	RNU4ATAC	Short stature	HP:0004322
100151683	RNU4ATAC	Elbow dislocation	HP:0003042
100151683	RNU4ATAC	Seizures	HP:0001250
100151683	RNU4ATAC	Astigmatism	HP:0000483
100151683	RNU4ATAC	Muscular hypotonia	HP:0001252
100151683	RNU4ATAC	Shoulder flexion contracture	HP:0003044
100151683	RNU4ATAC	Failure to thrive	HP:0001508
100151683	RNU4ATAC	Irregular vertebral endplates	HP:0003301
100151683	RNU4ATAC	Intrauterine growth retardation	HP:0001511
100151683	RNU4ATAC	Intellectual disability, mild	HP:0001256
100151683	RNU4ATAC	Spasticity	HP:0001257
100151683	RNU4ATAC	Gray matter heterotopia	HP:0002282
100151683	RNU4ATAC	Enlarged metaphyses	HP:0003051
100151683	RNU4ATAC	Knee flexion contracture	HP:0006380
100151683	RNU4ATAC	Aplasia/hypoplasia of the femur	HP:0005613
100151683	RNU4ATAC	Small anterior fontanelle	HP:0000237
100151683	RNU4ATAC	Hypotrichosis	HP:0001006
100151683	RNU4ATAC	Downslanted palpebral fissures	HP:0000494
100151683	RNU4ATAC	Global developmental delay	HP:0001263
100151683	RNU4ATAC	Abnormal form of the vertebral bodies	HP:0003312
100151683	RNU4ATAC	Stillbirth	HP:0003826
100151683	RNU4ATAC	Abnormality of the intervertebral disk	HP:0005108
100151683	RNU4ATAC	Glaucoma	HP:0000501
100151683	RNU4ATAC	Visual impairment	HP:0000505
100151683	RNU4ATAC	Agenesis of corpus callosum	HP:0001274
100151683	RNU4ATAC	Microcephaly	HP:0000252
100151683	RNU4ATAC	Coxa vara	HP:0002812
5244	ABCB4	Bile duct proliferation	HP:0001408
5244	ABCB4	Hepatomegaly	HP:0002240
5244	ABCB4	Pancreatitis	HP:0001733
5244	ABCB4	Autosomal dominant inheritance	HP:0000006
5244	ABCB4	Autosomal recessive inheritance	HP:0000007
5244	ABCB4	Cholangitis	HP:0030151
5244	ABCB4	Infantile onset	HP:0003593
5244	ABCB4	Cholesterol gallstones	HP:0011980
5244	ABCB4	Splenomegaly	HP:0001744
5244	ABCB4	Heterogeneous	HP:0001425
5244	ABCB4	Elevated alkaline phosphatase	HP:0003155
5244	ABCB4	Increased serum bile acid concentration during pregnancy	HP:0200150
5244	ABCB4	Premature birth	HP:0001622
5244	ABCB4	Abnormal liver function tests during pregnancy	HP:0200148
5244	ABCB4	Fetal distress	HP:0025116
5244	ABCB4	Pruritus	HP:0000989
5244	ABCB4	Elevated hepatic transaminase	HP:0002910
5244	ABCB4	Diarrhea	HP:0002014
5244	ABCB4	Malabsorption	HP:0002024
5244	ABCB4	Cirrhosis	HP:0001394
5244	ABCB4	Hepatic fibrosis	HP:0001395
5244	ABCB4	Portal fibrosis	HP:0006580
5244	ABCB4	Jaundice	HP:0000952
5244	ABCB4	Cholelithiasis	HP:0001081
5244	ABCB4	Cholecystitis	HP:0001082
5244	ABCB4	Intrahepatic cholestasis	HP:0001406
5250	SLC25A3	Cyanosis	HP:0000961
5250	SLC25A3	Muscular hypotonia	HP:0001252
5250	SLC25A3	Failure to thrive	HP:0001508
5250	SLC25A3	Hypertrophic cardiomyopathy	HP:0001639
5250	SLC25A3	Autosomal recessive inheritance	HP:0000007
5250	SLC25A3	Increased serum lactate	HP:0002151
5250	SLC25A3	Abnormality of the mitochondrion	HP:0012103
5250	SLC25A3	Respiratory insufficiency	HP:0002093
5250	SLC25A3	Low-output congestive heart failure	HP:0009805
5250	SLC25A3	Respiratory distress	HP:0002098
5250	SLC25A3	Metabolic acidosis	HP:0001942
5250	SLC25A3	Abnormal mitochondrial shape	HP:0012087
5250	SLC25A3	Lactic acidosis	HP:0003128
5250	SLC25A3	Myopathy	HP:0003198
5251	PHEX	Spinal cord compression	HP:0002176
5251	PHEX	Rachitic rosary	HP:0000897
5251	PHEX	Recurrent fractures	HP:0002757
5251	PHEX	Osteoarthritis	HP:0002758
5251	PHEX	Fibular bowing	HP:0010502
5251	PHEX	Hypomineralization of enamel	HP:0006285
5251	PHEX	Arthralgia	HP:0002829
5251	PHEX	Enthesitis	HP:0100686
5251	PHEX	X-linked dominant inheritance	HP:0001423
5251	PHEX	Flattening of the talar dome	HP:0008144
5251	PHEX	Metaphyseal irregularity	HP:0003025
5251	PHEX	Craniosynostosis	HP:0001363
5251	PHEX	Elevated alkaline phosphatase	HP:0003155
5251	PHEX	Abnormality of pelvic girdle bone morphology	HP:0002644
5251	PHEX	Frontal bossing	HP:0002007
5251	PHEX	Spinal canal stenosis	HP:0003416
5251	PHEX	Genu varum	HP:0002970
5251	PHEX	Joint dislocation	HP:0001373
5251	PHEX	Bone pain	HP:0002653
5251	PHEX	Elevated circulating parathyroid hormone level	HP:0003165
5251	PHEX	Trapezoidal distal femoral condyles	HP:0006432
5251	PHEX	Short stature	HP:0004322
5251	PHEX	Bowing of the legs	HP:0002979
5251	PHEX	Hypophosphatemia	HP:0002148
5251	PHEX	Femoral bowing	HP:0002980
5251	PHEX	Tooth abscess	HP:0030757
5251	PHEX	Tibial bowing	HP:0002982
5251	PHEX	Abnormality of dental enamel	HP:0000682
5251	PHEX	Hearing impairment	HP:0000365
5251	PHEX	Abnormality of the metaphysis	HP:0000944
5251	PHEX	Hypophosphatemic rickets	HP:0004912
5251	PHEX	Shortening of the talar neck	HP:0008117
5251	PHEX	Renal phosphate wasting	HP:0000117
5251	PHEX	Rickets	HP:0002748
5251	PHEX	Renal tubular dysfunction	HP:0000124
5251	PHEX	Osteomalacia	HP:0002749
5255	PHKA1	Exercise-induced myoglobinuria	HP:0008305
5255	PHKA1	Skeletal muscle atrophy	HP:0003202
5255	PHKA1	Elevated serum creatine kinase	HP:0003236
5255	PHKA1	Exercise-induced muscle stiffness	HP:0008967
5255	PHKA1	Exercise intolerance	HP:0003546
5255	PHKA1	Exercise-induced myalgia	HP:0003738
5255	PHKA1	X-linked recessive inheritance	HP:0001419
5255	PHKA1	Muscle weakness	HP:0001324
5256	PHKA2	Hepatomegaly	HP:0002240
5256	PHKA2	Hypercholesterolemia	HP:0003124
5256	PHKA2	Motor delay	HP:0001270
5256	PHKA2	Growth delay	HP:0001510
5256	PHKA2	Hypoglycemia	HP:0001943
5256	PHKA2	Ketosis	HP:0001946
5256	PHKA2	Hypertriglyceridemia	HP:0002155
5256	PHKA2	X-linked recessive inheritance	HP:0001419
5256	PHKA2	Elevated hepatic transaminase	HP:0002910
5257	PHKB	Hepatomegaly	HP:0002240
5257	PHKB	Short stature	HP:0004322
5257	PHKB	Autosomal recessive inheritance	HP:0000007
5257	PHKB	Increased hepatic glycogen content	HP:0006568
5257	PHKB	Generalized hypotonia	HP:0001290
5257	PHKB	Increased muscle glycogen content	HP:0009051
5257	PHKB	Muscle weakness	HP:0001324
5257	PHKB	Diarrhea	HP:0002014
78987	CRELD1	Heterogeneous	HP:0001425
78987	CRELD1	Dextrocardia	HP:0001651
78987	CRELD1	Right aortic arch with mirror image branching	HP:0002627
78987	CRELD1	Incomplete penetrance	HP:0003829
78987	CRELD1	Autosomal dominant inheritance	HP:0000006
78987	CRELD1	Atrioventricular canal defect	HP:0006695
78987	CRELD1	Pulmonary artery atresia	HP:0004935
87178	PNPT1	Absent speech	HP:0001344
87178	PNPT1	Skeletal muscle atrophy	HP:0003202
87178	PNPT1	Cataract	HP:0000518
87178	PNPT1	Growth delay	HP:0001510
87178	PNPT1	Autosomal recessive inheritance	HP:0000007
87178	PNPT1	Hearing impairment	HP:0000365
87178	PNPT1	Severe muscular hypotonia	HP:0006829
87178	PNPT1	Leukodystrophy	HP:0002415
87178	PNPT1	Hyporeflexia	HP:0001265
87178	PNPT1	Choreoathetosis	HP:0001266
87178	PNPT1	Dystonia	HP:0001332
87178	PNPT1	Dyskinesia	HP:0100660
87178	PNPT1	Decreased nerve conduction velocity	HP:0000762
87178	PNPT1	Nystagmus	HP:0000639
78989	COLEC11	Umbilical hernia	HP:0001537
78989	COLEC11	Diastasis recti	HP:0001540
78989	COLEC11	Autosomal recessive inheritance	HP:0000007
78989	COLEC11	Prominence of the premaxilla	HP:0010759
78989	COLEC11	Caudal appendage	HP:0002825
78989	COLEC11	Hip dislocation	HP:0002827
78989	COLEC11	Abnormal vertebral morphology	HP:0003468
78989	COLEC11	Epicanthus inversus	HP:0000537
78989	COLEC11	Downturned corners of mouth	HP:0002714
78989	COLEC11	Cryptorchidism	HP:0000028
78989	COLEC11	Abnormality of the vertebral column	HP:0000925
78989	COLEC11	Radioulnar synostosis	HP:0002974
78989	COLEC11	Broad philtrum	HP:0000289
78989	COLEC11	Prominent nasal bridge	HP:0000426
78989	COLEC11	Hypoplasia of the musculature	HP:0009004
78989	COLEC11	Hypospadias	HP:0000047
78989	COLEC11	Cleft palate	HP:0000175
78989	COLEC11	Wide nasal bridge	HP:0000431
78989	COLEC11	Limited elbow movement	HP:0002996
78989	COLEC11	Depressed nasal tip	HP:0000437
78989	COLEC11	Hypertelorism	HP:0000316
78989	COLEC11	Postnatal growth retardation	HP:0008897
78989	COLEC11	Blepharophimosis	HP:0000581
78989	COLEC11	Oral cleft	HP:0000202
78989	COLEC11	Cleft upper lip	HP:0000204
78989	COLEC11	Prominent coccyx	HP:0040016
78989	COLEC11	Abnormal anterior chamber morphology	HP:0000593
78989	COLEC11	Broad forehead	HP:0000337
78989	COLEC11	Craniosynostosis	HP:0001363
78989	COLEC11	Horseshoe kidney	HP:0000085
78989	COLEC11	Large fleshy ears	HP:0002265
78989	COLEC11	Torticollis	HP:0000473
78989	COLEC11	Scoliosis	HP:0002650
78989	COLEC11	Intellectual disability	HP:0001249
78989	COLEC11	Spina bifida occulta	HP:0003298
78989	COLEC11	Strabismus	HP:0000486
78989	COLEC11	Joint hypermobility	HP:0001382
78989	COLEC11	Hyperlordosis	HP:0003307
78989	COLEC11	Hearing impairment	HP:0000365
78989	COLEC11	Downslanted palpebral fissures	HP:0000494
78989	COLEC11	Global developmental delay	HP:0001263
78989	COLEC11	Low-set ears	HP:0000369
78989	COLEC11	Abnormal nasal morphology	HP:0005105
78989	COLEC11	Bilateral cryptorchidism	HP:0008689
78989	COLEC11	Highly arched eyebrow	HP:0002553
78989	COLEC11	Telecanthus	HP:0000506
78989	COLEC11	Limited pronation/supination of forearm	HP:0006394
78989	COLEC11	Partial abdominal muscle agenesis	HP:0005243
78989	COLEC11	Ptosis	HP:0000508
78989	COLEC11	Supernumerary nipple	HP:0002558
5261	PHKG2	Hepatomegaly	HP:0002240
5261	PHKG2	Bile duct proliferation	HP:0001408
5261	PHKG2	Muscular hypotonia	HP:0001252
5261	PHKG2	Growth delay	HP:0001510
5261	PHKG2	Autosomal recessive inheritance	HP:0000007
5261	PHKG2	Infantile onset	HP:0003593
5261	PHKG2	Generalized hypotonia	HP:0001290
5261	PHKG2	Hypertriglyceridemia	HP:0002155
5261	PHKG2	Splenomegaly	HP:0001744
5261	PHKG2	Cirrhosis	HP:0001394
5261	PHKG2	Motor delay	HP:0001270
5261	PHKG2	Lactic acidosis	HP:0003128
5261	PHKG2	Ketosis	HP:0001946
5261	PHKG2	Fasting hypoglycemia	HP:0003162
5261	PHKG2	Elevated hepatic transaminase	HP:0002910
5264	PHYH	Ichthyosis	HP:0008064
5264	PHYH	Short metacarpal	HP:0010049
5264	PHYH	Skeletal muscle atrophy	HP:0003202
5264	PHYH	Cataract	HP:0000518
5264	PHYH	Autosomal recessive inheritance	HP:0000007
5264	PHYH	Developmental regression	HP:0002376
5264	PHYH	Anosmia	HP:0000458
5264	PHYH	Elevated levels of phytanic acid	HP:0010571
5264	PHYH	Splenomegaly	HP:0001744
5264	PHYH	Progressive visual loss	HP:0000529
5264	PHYH	Short fourth metatarsal	HP:0004689
5264	PHYH	Sensory impairment	HP:0003474
5264	PHYH	Renal insufficiency	HP:0000083
5264	PHYH	Abnormality of metabolism/homeostasis	HP:0001939
5264	PHYH	Hemiplegia/hemiparesis	HP:0004374
5264	PHYH	Nyctalopia	HP:0000662
5264	PHYH	Abnormality of retinal pigmentation	HP:0007703
5264	PHYH	Sensorineural hearing impairment	HP:0000407
5264	PHYH	Abnormal pyramidal sign	HP:0007256
5264	PHYH	Arrhythmia	HP:0011675
5264	PHYH	Skeletal dysplasia	HP:0002652
5264	PHYH	Multiple epiphyseal dysplasia	HP:0002654
5264	PHYH	Pes cavus	HP:0001761
5264	PHYH	Retinal degeneration	HP:0000546
5264	PHYH	Ataxia	HP:0001251
5264	PHYH	Congestive heart failure	HP:0001635
5264	PHYH	Muscular hypotonia	HP:0001252
5264	PHYH	Hammertoe	HP:0001765
5264	PHYH	Sensorimotor neuropathy	HP:0007141
5264	PHYH	Peripheral neuropathy	HP:0009830
5264	PHYH	Cardiomyopathy	HP:0001638
5264	PHYH	Miosis	HP:0000616
5264	PHYH	Retinopathy	HP:0000488
5264	PHYH	Cardiomegaly	HP:0001640
5264	PHYH	Abnormality of epiphysis morphology	HP:0005930
5264	PHYH	Limb muscle weakness	HP:0003690
5264	PHYH	Increased CSF protein	HP:0002922
5264	PHYH	Respiratory insufficiency	HP:0002093
5264	PHYH	Intellectual disability, severe	HP:0010864
5264	PHYH	Hyporeflexia	HP:0001265
5264	PHYH	Heart block	HP:0012722
5264	PHYH	Abnormal renal physiology	HP:0012211
5264	PHYH	Nail dysplasia	HP:0002164
5264	PHYH	Microphthalmia	HP:0000568
5264	PHYH	Ptosis	HP:0000508
5264	PHYH	Dry skin	HP:0000958
5264	PHYH	Rod-cone dystrophy	HP:0000510
5264	PHYH	Nystagmus	HP:0000639
5265	SERPINA1	Hepatomegaly	HP:0002240
5265	SERPINA1	Emphysema	HP:0002097
5265	SERPINA1	Cirrhosis	HP:0001394
5265	SERPINA1	Hepatitis	HP:0012115
5265	SERPINA1	Nephrotic syndrome	HP:0000100
5265	SERPINA1	Autosomal recessive inheritance	HP:0000007
5265	SERPINA1	Hepatic failure	HP:0001399
5265	SERPINA1	Jaundice	HP:0000952
5265	SERPINA1	Hepatocellular carcinoma	HP:0001402
5265	SERPINA1	Elevated hepatic transaminase	HP:0002910
5265	SERPINA1	Dyspnea	HP:0002094
5265	SERPINA1	Chronic obstructive pulmonary disease	HP:0006510
5269	SERPINB6	Progressive hearing impairment	HP:0001730
5269	SERPINB6	Autosomal recessive inheritance	HP:0000007
5271	SERPINB8	Hyperkeratosis	HP:0000962
5271	SERPINB8	Epidermal acanthosis	HP:0025092
5271	SERPINB8	Autosomal recessive inheritance	HP:0000007
79001	VKORC1	Reduced factor X activity	HP:0008321
79001	VKORC1	Reduced factor IX activity	HP:0011858
79001	VKORC1	Abnormality of metabolism/homeostasis	HP:0001939
79001	VKORC1	Abnormal bleeding	HP:0001892
79001	VKORC1	Autosomal dominant inheritance	HP:0000006
79001	VKORC1	Autosomal recessive inheritance	HP:0000007
79001	VKORC1	Reduced factor VII activity	HP:0008169
79001	VKORC1	Reduced prothrombin antigen	HP:0040250
79001	VKORC1	Abnormality of blood and blood-forming tissues	HP:0001871
5274	SERPINI1	Neuronal loss in central nervous system	HP:0002529
5274	SERPINI1	Seizures	HP:0001250
5274	SERPINI1	Autosomal dominant inheritance	HP:0000006
5274	SERPINI1	Diplopia	HP:0000651
5274	SERPINI1	Cerebral atrophy	HP:0002059
5274	SERPINI1	Dysarthria	HP:0001260
5274	SERPINI1	Encephalopathy	HP:0001298
5274	SERPINI1	Dementia	HP:0000726
5274	SERPINI1	Abnormality of extrapyramidal motor function	HP:0002071
5274	SERPINI1	Myoclonus	HP:0001336
5274	SERPINI1	Distal sensory impairment	HP:0002936
5274	SERPINI1	Gliosis	HP:0002171
5274	SERPINI1	Nystagmus	HP:0000639
29851	ICOS	Hepatomegaly	HP:0002240
29851	ICOS	Recurrent pneumonia	HP:0006532
29851	ICOS	Chronic otitis media	HP:0000389
29851	ICOS	Autosomal dominant inheritance	HP:0000006
29851	ICOS	Meningitis	HP:0001287
29851	ICOS	Autosomal recessive inheritance	HP:0000007
29851	ICOS	Vasculitis	HP:0002633
29851	ICOS	Arthralgia	HP:0002829
29851	ICOS	Autoimmunity	HP:0002960
29851	ICOS	Splenomegaly	HP:0001744
29851	ICOS	Recurrent otitis media	HP:0000403
29851	ICOS	Purpura	HP:0000979
29851	ICOS	Recurrent bronchitis	HP:0002837
29851	ICOS	Hemolytic anemia	HP:0001878
29851	ICOS	Decreased antibody level in blood	HP:0004313
29851	ICOS	Decreased circulating IgG level	HP:0004315
29851	ICOS	Lymphadenopathy	HP:0002716
29851	ICOS	Diarrhea	HP:0002014
29851	ICOS	Recurrent bacterial infections	HP:0002718
29851	ICOS	Elevated hepatic transaminase	HP:0002910
29851	ICOS	Decreased circulating IgA level	HP:0002720
29851	ICOS	B lymphocytopenia	HP:0010976
29851	ICOS	Lymphopenia	HP:0001888
29851	ICOS	Immunodeficiency	HP:0002721
29851	ICOS	Decreased circulating total IgM	HP:0002850
29851	ICOS	Recurrent sinusitis	HP:0011108
29851	ICOS	Anal atresia	HP:0002023
29851	ICOS	Neoplasm	HP:0002664
29851	ICOS	Lymphoma	HP:0002665
29851	ICOS	Follicular hyperplasia	HP:0002729
29851	ICOS	Pneumonia	HP:0002090
29851	ICOS	Restrictive ventilatory defect	HP:0002091
29851	ICOS	Neutropenia in presence of anti-neutropil antibodies	HP:0001904
29851	ICOS	Emphysema	HP:0002097
29851	ICOS	Gastrointestinal stroma tumor	HP:0100723
29851	ICOS	Autoimmune thrombocytopenia	HP:0001973
29851	ICOS	Brachycephaly	HP:0000248
29851	ICOS	Impaired T cell function	HP:0005435
29851	ICOS	Failure to thrive in infancy	HP:0001531
29851	ICOS	Conjunctivitis	HP:0000509
29851	ICOS	Bronchiectasis	HP:0002110
29851	ICOS	Posterior pharyngeal cleft	HP:0006783
5277	PIGA	Ichthyosis	HP:0008064
5277	PIGA	Small nail	HP:0001792
5277	PIGA	Macrocephaly	HP:0000256
5277	PIGA	Central hypotonia	HP:0011398
5277	PIGA	X-linked recessive inheritance	HP:0001419
5277	PIGA	Overfolded helix	HP:0000396
5277	PIGA	Overgrowth	HP:0001548
5277	PIGA	Prominent occiput	HP:0000269
5277	PIGA	Lower limb spasticity	HP:0002061
5277	PIGA	Malar flattening	HP:0000272
5277	PIGA	Angina pectoris	HP:0001681
5277	PIGA	Somatic mutation	HP:0001428
5277	PIGA	Transient ischemic attack	HP:0002326
5277	PIGA	Bone marrow hypocellularity	HP:0005528
5277	PIGA	Coarse facial features	HP:0000280
5277	PIGA	Polyhydramnios	HP:0001561
5277	PIGA	Downturned corners of mouth	HP:0002714
5277	PIGA	Seborrheic dermatitis	HP:0001051
5277	PIGA	Pulmonary embolism	HP:0002204
5277	PIGA	Hypoplasia of the corpus callosum	HP:0002079
5277	PIGA	Delayed myelination	HP:0012448
5277	PIGA	Narrow mouth	HP:0000160
5277	PIGA	Depressed nasal bridge	HP:0005280
5277	PIGA	Cerebellar hypoplasia	HP:0001321
5277	PIGA	Muscle weakness	HP:0001324
5277	PIGA	Pulmonary arterial hypertension	HP:0002092
5277	PIGA	Myelodysplasia	HP:0002863
5277	PIGA	Widely spaced teeth	HP:0000687
5277	PIGA	Elevated hepatic iron concentration	HP:0012465
5277	PIGA	Abnormal renal physiology	HP:0012211
5277	PIGA	Microdontia	HP:0000691
5277	PIGA	Absent septum pellucidum	HP:0001331
5277	PIGA	Infantile spasms	HP:0012469
5277	PIGA	Micropenis	HP:0000054
5277	PIGA	Myoclonus	HP:0001336
5277	PIGA	Hemoglobinuria	HP:0003641
5277	PIGA	Hypertelorism	HP:0000316
5277	PIGA	Olfactory lobe agenesis	HP:0001341
5277	PIGA	Birth length greater than 97th percentile	HP:0003517
5277	PIGA	Absent speech	HP:0001344
5277	PIGA	Hepatomegaly	HP:0002240
5277	PIGA	Abnormality of the pons	HP:0007361
5277	PIGA	Hyperreflexia	HP:0001347
5277	PIGA	Epileptic encephalopathy	HP:0200134
5277	PIGA	Upslanted palpebral fissure	HP:0000582
5277	PIGA	Acute myeloid leukemia	HP:0004808
5277	PIGA	Cerebral cortical atrophy	HP:0002120
5277	PIGA	Developmental regression	HP:0002376
5277	PIGA	Upper limb spasticity	HP:0006986
5277	PIGA	Generalized myoclonic seizures	HP:0002123
5277	PIGA	Cerebral artery stenosis	HP:0012492
5277	PIGA	Vesicoureteral reflux	HP:0000076
5277	PIGA	Anteverted nares	HP:0000463
5277	PIGA	Triangular mouth	HP:0000207
5277	PIGA	Duplicated collecting system	HP:0000081
5277	PIGA	Paroxysmal nocturnal hemoglobinuria	HP:0004818
5277	PIGA	Elevated alkaline phosphatase	HP:0003155
5277	PIGA	Pallor	HP:0000980
5277	PIGA	Gingival overgrowth	HP:0000212
5277	PIGA	Hemolytic anemia	HP:0001878
5277	PIGA	Short neck	HP:0000470
5277	PIGA	Hypsarrhythmia	HP:0002521
5277	PIGA	Fatigue	HP:0012378
5277	PIGA	High palate	HP:0000218
5277	PIGA	Flexion contracture	HP:0001371
5277	PIGA	Micrognathia	HP:0000347
5277	PIGA	Dysphagia	HP:0002015
5277	PIGA	Atrial septal defect	HP:0001631
5277	PIGA	Neuronal loss in central nervous system	HP:0002529
5277	PIGA	Cerebral visual impairment	HP:0100704
5277	PIGA	Abnormal bleeding	HP:0001892
5277	PIGA	Muscular hypotonia of the trunk	HP:0008936
5277	PIGA	Abnormality of skin pigmentation	HP:0001000
5277	PIGA	Spasticity	HP:0001257
5277	PIGA	Abdominal pain	HP:0002027
5277	PIGA	Postnatal microcephaly	HP:0005484
5277	PIGA	Hearing impairment	HP:0000365
5277	PIGA	Global developmental delay	HP:0001263
5277	PIGA	Large fontanelles	HP:0000239
5277	PIGA	Large for gestational age	HP:0001520
5277	PIGA	Abnormality of skin morphology	HP:0011121
5277	PIGA	Cirrhosis	HP:0001394
5277	PIGA	Death in infancy	HP:0001522
5277	PIGA	Thromboembolism	HP:0001907
5277	PIGA	Hypoplastic anemia	HP:0001908
5277	PIGA	Variable expressivity	HP:0003828
5277	PIGA	Hypercoagulability	HP:0100724
5277	PIGA	Myocardial infarction	HP:0001658
5277	PIGA	Aplastic anemia	HP:0001915
5277	PIGA	Gliosis	HP:0002171
5277	PIGA	Hydrops fetalis	HP:0001789
5279	PIGC	Delayed ability to walk	HP:0031936
5279	PIGC	Intellectual disability	HP:0001249
5279	PIGC	Poor speech	HP:0002465
5279	PIGC	Seizures	HP:0001250
5279	PIGC	Global developmental delay	HP:0001263
259232	NALCN	Pectus carinatum	HP:0000768
259232	NALCN	Umbilical hernia	HP:0001537
259232	NALCN	Skeletal muscle atrophy	HP:0003202
259232	NALCN	Autosomal dominant inheritance	HP:0000006
259232	NALCN	Autosomal recessive inheritance	HP:0000007
259232	NALCN	Optic atrophy	HP:0000648
259232	NALCN	Generalized hypotonia	HP:0001290
259232	NALCN	Camptodactyly of finger	HP:0100490
259232	NALCN	Cerebral atrophy	HP:0002059
259232	NALCN	Psychomotor retardation	HP:0025356
259232	NALCN	Macrotia	HP:0000400
259232	NALCN	Narrow face	HP:0000275
259232	NALCN	Prenatal movement abnormality	HP:0001557
259232	NALCN	Inguinal hernia	HP:0000023
259232	NALCN	Polyhydramnios	HP:0001561
259232	NALCN	Wide mouth	HP:0000154
259232	NALCN	Oligohydramnios	HP:0001562
259232	NALCN	Protruding ear	HP:0000411
259232	NALCN	Cryptorchidism	HP:0000028
259232	NALCN	Adducted thumb	HP:0001181
259232	NALCN	Narrow mouth	HP:0000160
259232	NALCN	Poor speech	HP:0002465
259232	NALCN	Slender nose	HP:0000417
259232	NALCN	Abnormality of the dentition	HP:0000164
259232	NALCN	Full cheeks	HP:0000293
259232	NALCN	Feeding difficulties in infancy	HP:0008872
259232	NALCN	Elbow flexion contracture	HP:0002987
259232	NALCN	Respiratory insufficiency	HP:0002093
259232	NALCN	Rocker bottom foot	HP:0001838
259232	NALCN	Underdeveloped nasal alae	HP:0000430
259232	NALCN	Bilateral single transverse palmar creases	HP:0007598
259232	NALCN	Wide nasal bridge	HP:0000431
259232	NALCN	Tarsal synostosis	HP:0008368
259232	NALCN	Poor eye contact	HP:0000817
259232	NALCN	Hernia	HP:0100790
259232	NALCN	Hypertelorism	HP:0000316
259232	NALCN	Overlapping fingers	HP:0010557
259232	NALCN	Smooth philtrum	HP:0000319
259232	NALCN	Feeding difficulties	HP:0011968
259232	NALCN	Postnatal growth retardation	HP:0008897
259232	NALCN	Hyperreflexia	HP:0001347
259232	NALCN	Triangular face	HP:0000325
259232	NALCN	Abnormality of the hip bone	HP:0003272
259232	NALCN	Depressed nasal ridge	HP:0000457
259232	NALCN	Hip contracture	HP:0003273
259232	NALCN	Nasal speech	HP:0001611
259232	NALCN	Enlarged naris	HP:0009931
259232	NALCN	Pursed lips	HP:0000205
259232	NALCN	Spastic tetraplegia	HP:0002510
259232	NALCN	Short columella	HP:0002000
259232	NALCN	Webbed neck	HP:0000465
259232	NALCN	Prominent forehead	HP:0011220
259232	NALCN	Short neck	HP:0000470
259232	NALCN	Long philtrum	HP:0000343
259232	NALCN	Abnormal pyramidal sign	HP:0007256
259232	NALCN	Scoliosis	HP:0002650
259232	NALCN	High palate	HP:0000218
259232	NALCN	Micrognathia	HP:0000347
259232	NALCN	Thin upper lip vermilion	HP:0000219
259232	NALCN	Talipes	HP:0001883
259232	NALCN	Progressive	HP:0003676
259232	NALCN	Vertebral segmentation defect	HP:0003422
259232	NALCN	Round ear	HP:0100830
259232	NALCN	Camptodactyly	HP:0012385
259232	NALCN	Seizures	HP:0001250
259232	NALCN	Talipes equinovarus	HP:0001762
259232	NALCN	Short stature	HP:0004322
259232	NALCN	Constipation	HP:0002019
259232	NALCN	Gastroesophageal reflux	HP:0002020
259232	NALCN	Failure to thrive	HP:0001508
259232	NALCN	Aplasia/Hypoplasia of the radius	HP:0006501
259232	NALCN	Strabismus	HP:0000486
259232	NALCN	Decreased motor nerve conduction velocity	HP:0003431
259232	NALCN	Muscular hypotonia of the trunk	HP:0008936
259232	NALCN	Ulnar deviation of the wrist	HP:0003049
259232	NALCN	Deeply set eye	HP:0000490
259232	NALCN	Joint stiffness	HP:0001387
259232	NALCN	Knee flexion contracture	HP:0006380
259232	NALCN	Hearing impairment	HP:0000365
259232	NALCN	Downslanted palpebral fissures	HP:0000494
259232	NALCN	Delayed speech and language development	HP:0000750
259232	NALCN	Global developmental delay	HP:0001263
259232	NALCN	Low-set ears	HP:0000369
259232	NALCN	Congenital contracture	HP:0002803
259232	NALCN	Neurological speech impairment	HP:0002167
259232	NALCN	Brachycephaly	HP:0000248
259232	NALCN	Cerebellar atrophy	HP:0001272
259232	NALCN	Ulnar deviation of finger	HP:0009465
259232	NALCN	Absent palmar crease	HP:0010489
259232	NALCN	Congenital onset	HP:0003577
259232	NALCN	Microcephaly	HP:0000252
259232	NALCN	Short nose	HP:0003196
259232	NALCN	Ptosis	HP:0000508
259232	NALCN	Nystagmus	HP:0000639
259232	NALCN	Malignant hyperthermia	HP:0002047
259232	NALCN	Dimple chin	HP:0010751
5283	PIGH	Poor speech	HP:0002465
5283	PIGH	Seizures	HP:0001250
5283	PIGH	Growth delay	HP:0001510
5283	PIGH	Clinodactyly of the 5th toe	HP:0001864
5283	PIGH	Generalized hypotonia	HP:0001290
5283	PIGH	Hypertriglyceridemia	HP:0002155
5283	PIGH	Dysplastic corpus callosum	HP:0006989
5283	PIGH	Aggressive behavior	HP:0000718
5283	PIGH	Global developmental delay	HP:0001263
5283	PIGH	Specific learning disability	HP:0001328
5283	PIGH	Clinodactyly of the 5th finger	HP:0004209
5283	PIGH	Variable expressivity	HP:0003828
5283	PIGH	Abnormal ear morphology	HP:0031703
5283	PIGH	Overfriendliness	HP:0100025
5283	PIGH	High palate	HP:0000218
5283	PIGH	Congenital microcephaly	HP:0011451
259236	TMIE	Autosomal recessive inheritance	HP:0000007
259236	TMIE	Hearing impairment	HP:0000365
5290	PIK3CA	Macrodactyly	HP:0004099
5290	PIK3CA	Autosomal dominant inheritance	HP:0000006
5290	PIK3CA	Cataract	HP:0000518
5290	PIK3CA	Autosomal recessive inheritance	HP:0000007
5290	PIK3CA	Subcutaneous lipoma	HP:0001031
5290	PIK3CA	Hypermelanotic macule	HP:0001034
5290	PIK3CA	Overgrowth	HP:0001548
5290	PIK3CA	Capillary malformation	HP:0025104
5290	PIK3CA	Large earlobe	HP:0009748
5290	PIK3CA	Cavernous hemangioma	HP:0001048
5290	PIK3CA	Seborrheic dermatitis	HP:0001051
5290	PIK3CA	Nevus flammeus	HP:0001052
5290	PIK3CA	Migraine	HP:0002076
5290	PIK3CA	Hypopigmented skin patches	HP:0001053
5290	PIK3CA	Numerous nevi	HP:0001054
5290	PIK3CA	Intention tremor	HP:0002080
5290	PIK3CA	Myopia	HP:0000545
5290	PIK3CA	Hydrocele testis	HP:0000034
5290	PIK3CA	Urinary tract neoplasm	HP:0010786
5290	PIK3CA	Abnormality of the penis	HP:0000036
5290	PIK3CA	Microphthalmia	HP:0000568
5290	PIK3CA	Varicose veins	HP:0002619
5290	PIK3CA	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
5290	PIK3CA	Joint hyperflexibility	HP:0005692
5290	PIK3CA	Spinal dysraphism	HP:0010301
5290	PIK3CA	Abnormal venous morphology	HP:0002624
5290	PIK3CA	Pancreatic adenocarcinoma	HP:0006725
5290	PIK3CA	Ventriculomegaly	HP:0002119
5290	PIK3CA	Varicocele	HP:0012871
5290	PIK3CA	Hyperparakeratosis	HP:0040009
5290	PIK3CA	Follicular thyroid carcinoma	HP:0006731
5290	PIK3CA	Cerebral ischemia	HP:0002637
5290	PIK3CA	Polymicrogyria	HP:0002126
5290	PIK3CA	Angioid streaks of the fundus	HP:0001102
5290	PIK3CA	Transitional cell carcinoma of the bladder	HP:0006740
5290	PIK3CA	Ovarian serous cystadenoma	HP:0012887
5290	PIK3CA	Abnormal pyramidal sign	HP:0007256
5290	PIK3CA	Scoliosis	HP:0002650
5290	PIK3CA	Abnormality of the cardiovascular system	HP:0001626
5290	PIK3CA	Fatigue	HP:0012378
5290	PIK3CA	Ventricular septal defect	HP:0001629
5290	PIK3CA	Tethered cord	HP:0002144
5290	PIK3CA	Neoplasm of the stomach	HP:0006753
5290	PIK3CA	Visual field defect	HP:0001123
5290	PIK3CA	Enlarged kidney	HP:0000105
5290	PIK3CA	Nephroblastoma	HP:0002667
5290	PIK3CA	Basal cell carcinoma	HP:0002671
5290	PIK3CA	Ovarian papillary adenocarcinoma	HP:0006774
5290	PIK3CA	Brachydactyly	HP:0001156
5290	PIK3CA	Syndactyly	HP:0001159
5290	PIK3CA	Optic atrophy	HP:0000648
5290	PIK3CA	Hand polydactyly	HP:0001161
5290	PIK3CA	Ovarian cyst	HP:0000138
5290	PIK3CA	Wide mouth	HP:0000154
5290	PIK3CA	Macroglossia	HP:0000158
5290	PIK3CA	Depressed nasal bridge	HP:0005280
5290	PIK3CA	Narrow mouth	HP:0000160
5290	PIK3CA	Sporadic	HP:0003745
5290	PIK3CA	Nevus	HP:0003764
5290	PIK3CA	Arteriovenous malformation	HP:0100026
5290	PIK3CA	Cognitive impairment	HP:0100543
5290	PIK3CA	Neoplasm of the thyroid gland	HP:0100031
5290	PIK3CA	Gastrointestinal hemorrhage	HP:0002239
5290	PIK3CA	Aplasia/Hypoplasia of the cerebellum	HP:0007360
5290	PIK3CA	Polydactyly	HP:0010442
5290	PIK3CA	Asymmetric growth	HP:0100555
5290	PIK3CA	Depressivity	HP:0000716
5290	PIK3CA	Autism	HP:0000717
5290	PIK3CA	Colonic diverticula	HP:0002253
5290	PIK3CA	Lower limb asymmetry	HP:0100559
5290	PIK3CA	Splenomegaly	HP:0001744
5290	PIK3CA	High palate	HP:0000218
5290	PIK3CA	Cardiac diverticulum	HP:0100571
5290	PIK3CA	Furrowed tongue	HP:0000221
5290	PIK3CA	Intellectual disability	HP:0001249
5290	PIK3CA	Irritability	HP:0000737
5290	PIK3CA	Amaurosis fugax	HP:0100576
5290	PIK3CA	Seizures	HP:0001250
5290	PIK3CA	Short stature	HP:0004322
5290	PIK3CA	Mucosal telangiectasiae	HP:0100579
5290	PIK3CA	Hallucinations	HP:0000738
5290	PIK3CA	Ataxia	HP:0001251
5290	PIK3CA	Lipoatrophy	HP:0100578
5290	PIK3CA	Anxiety	HP:0000739
5290	PIK3CA	Muscular hypotonia	HP:0001252
5290	PIK3CA	Telangiectasia of the skin	HP:0100585
5290	PIK3CA	Intellectual disability, mild	HP:0001256
5290	PIK3CA	Toe syndactyly	HP:0001770
5290	PIK3CA	Dysarthria	HP:0001260
5290	PIK3CA	Hydrocephalus	HP:0000238
5290	PIK3CA	Global developmental delay	HP:0001263
5290	PIK3CA	Kyphosis	HP:0002808
5290	PIK3CA	Hypertonia	HP:0001276
5290	PIK3CA	Cellular immunodeficiency	HP:0005374
5290	PIK3CA	Pectus excavatum	HP:0000767
5290	PIK3CA	Lipoma	HP:0012032
5290	PIK3CA	Macrocephaly	HP:0000256
5290	PIK3CA	Gynecomastia	HP:0000771
5290	PIK3CA	Arnold-Chiari malformation	HP:0002308
5290	PIK3CA	Death in early adulthood	HP:0100613
5290	PIK3CA	Ovarian neoplasm	HP:0100615
5290	PIK3CA	Gait disturbance	HP:0001288
5290	PIK3CA	Generalized hypotonia	HP:0001290
5290	PIK3CA	Dysgerminoma	HP:0100621
5290	PIK3CA	Hemiplegia/hemiparesis	HP:0004374
5290	PIK3CA	Agnosia	HP:0010524
5290	PIK3CA	Epicanthus	HP:0000286
5290	PIK3CA	Bone cyst	HP:0012062
5290	PIK3CA	Dysgraphia	HP:0010526
5290	PIK3CA	Weight loss	HP:0001824
5290	PIK3CA	Abnormal cerebellum morphology	HP:0001317
5290	PIK3CA	Foot polydactyly	HP:0001829
5290	PIK3CA	Full cheeks	HP:0000293
5290	PIK3CA	Hamartomatous polyposis	HP:0004390
5290	PIK3CA	Thyroiditis	HP:0100646
5290	PIK3CA	Meningioma	HP:0002858
5290	PIK3CA	Melanoma	HP:0002861
5290	PIK3CA	Abnormality of the cerebral vasculature	HP:0100659
5290	PIK3CA	Memory impairment	HP:0002354
5290	PIK3CA	Hypothyroidism	HP:0000821
5290	PIK3CA	Dyskinesia	HP:0100660
5290	PIK3CA	Hypertelorism	HP:0000316
5290	PIK3CA	Sandal gap	HP:0001852
5290	PIK3CA	Smooth philtrum	HP:0000319
5290	PIK3CA	Hyperthyroidism	HP:0000836
5290	PIK3CA	Facial asymmetry	HP:0000324
5290	PIK3CA	Hypoplasia of the maxilla	HP:0000327
5290	PIK3CA	Developmental regression	HP:0002376
5290	PIK3CA	Paresthesia	HP:0003401
5290	PIK3CA	Megalencephaly	HP:0001355
5290	PIK3CA	Uterine leiomyosarcoma	HP:0002891
5290	PIK3CA	Intestinal polyposis	HP:0200008
5290	PIK3CA	Pituitary adenoma	HP:0002893
5290	PIK3CA	Broad forehead	HP:0000337
5290	PIK3CA	Endometrial carcinoma	HP:0012114
5290	PIK3CA	Cavum septum pellucidum	HP:0002389
5290	PIK3CA	Goiter	HP:0000853
5290	PIK3CA	Cranial hyperostosis	HP:0004437
5290	PIK3CA	Thyroid adenoma	HP:0000854
5290	PIK3CA	Micrognathia	HP:0000347
5290	PIK3CA	Flexion contracture	HP:0001371
5290	PIK3CA	High forehead	HP:0000348
5290	PIK3CA	Stomach cancer	HP:0012126
5290	PIK3CA	Papule	HP:0200034
5290	PIK3CA	Microtia	HP:0008551
5290	PIK3CA	Verrucae	HP:0200043
5290	PIK3CA	Attention deficit hyperactivity disorder	HP:0007018
5290	PIK3CA	Joint laxity	HP:0001388
5290	PIK3CA	Hearing impairment	HP:0000365
5290	PIK3CA	Skin tags	HP:0010609
5290	PIK3CA	Leukemia	HP:0001909
5290	PIK3CA	Alveolar cell carcinoma	HP:0006519
5290	PIK3CA	Hepatocellular carcinoma	HP:0001402
5290	PIK3CA	Fibroadenoma of the breast	HP:0010619
5290	PIK3CA	Colorectal polyposis	HP:0200063
5290	PIK3CA	Neoplasm of the skeletal system	HP:0010622
5290	PIK3CA	Progressive macrocephaly	HP:0004481
5290	PIK3CA	Micronodular cirrhosis	HP:0001413
5290	PIK3CA	Neoplasm of the rectum	HP:0100743
5290	PIK3CA	Multiple cafe-au-lait spots	HP:0007565
5290	PIK3CA	Glioblastoma multiforme	HP:0012174
5290	PIK3CA	Heterogeneous	HP:0001425
5290	PIK3CA	Abnormality of metabolism/homeostasis	HP:0001939
5290	PIK3CA	Somatic mutation	HP:0001428
5290	PIK3CA	Visceral angiomatosis	HP:0100761
5290	PIK3CA	Abnormality of the lymphatic system	HP:0100763
5290	PIK3CA	Arrhythmia	HP:0011675
5290	PIK3CA	Subacute progressive viral hepatitis	HP:0006572
5290	PIK3CA	Conjunctival hamartoma	HP:0100780
5290	PIK3CA	Venous malformation	HP:0012721
5290	PIK3CA	Hernia	HP:0100790
5290	PIK3CA	Breast carcinoma	HP:0003002
5290	PIK3CA	Colon cancer	HP:0003003
5290	PIK3CA	Macule	HP:0012733
5290	PIK3CA	Neuroblastoma	HP:0003006
5290	PIK3CA	Papilloma	HP:0012740
5290	PIK3CA	Cutis marmorata	HP:0000965
5290	PIK3CA	Subcutaneous nodule	HP:0001482
5290	PIK3CA	Palmoplantar hyperkeratosis	HP:0000972
5290	PIK3CA	Renal cell carcinoma	HP:0005584
5290	PIK3CA	Increased intracranial pressure	HP:0002516
5290	PIK3CA	Increased level of L-fucose in urine	HP:0410067
5290	PIK3CA	Finger syndactyly	HP:0006101
5290	PIK3CA	Palmoplantar keratoderma	HP:0000982
5290	PIK3CA	Frontal bossing	HP:0002007
5290	PIK3CA	2-4 toe syndactyly	HP:0010714
5290	PIK3CA	Generalized hyperkeratosis	HP:0005595
5290	PIK3CA	Nausea and vomiting	HP:0002017
5290	PIK3CA	Benign neoplasm of the central nervous system	HP:0100835
5290	PIK3CA	Melanocytic nevus	HP:0000995
5290	PIK3CA	Enlarged polycystic ovaries	HP:0008675
5290	PIK3CA	Constipation	HP:0002019
5290	PIK3CA	Failure to thrive	HP:0001508
5290	PIK3CA	Renal hypoplasia/aplasia	HP:0008678
5290	PIK3CA	Malabsorption	HP:0002024
5290	PIK3CA	Deeply set eye	HP:0000490
5290	PIK3CA	Abdominal pain	HP:0002027
5290	PIK3CA	Lymphedema	HP:0001004
5290	PIK3CA	Downslanted palpebral fissures	HP:0000494
5290	PIK3CA	Death in infancy	HP:0001522
5290	PIK3CA	Multiple lipomas	HP:0001012
5290	PIK3CA	Adenoma sebaceum	HP:0009720
5290	PIK3CA	Hemihypertrophy	HP:0001528
5290	PIK3CA	Adult onset	HP:0003581
54443	ANLN	Focal segmental glomerulosclerosis	HP:0000097
54443	ANLN	Nephrotic syndrome	HP:0000100
54443	ANLN	Autosomal dominant inheritance	HP:0000006
54443	ANLN	Proteinuria	HP:0000093
54443	ANLN	Stage 5 chronic kidney disease	HP:0003774
5293	PIK3CD	Immunodeficiency	HP:0002721
5293	PIK3CD	Recurrent ear infections	HP:0410018
5293	PIK3CD	Autosomal dominant inheritance	HP:0000006
5293	PIK3CD	Increased circulating IgM level	HP:0003496
5293	PIK3CD	Increased proportion of transitional B cells	HP:0030381
5293	PIK3CD	Splenomegaly	HP:0001744
5293	PIK3CD	Recurrent sinopulmonary infections	HP:0005425
5293	PIK3CD	Cellulitis	HP:0100658
5293	PIK3CD	Decreased proportion of class-switched memory B cells	HP:0030388
5293	PIK3CD	Decrease in T cell count	HP:0005403
5293	PIK3CD	Lymphadenopathy	HP:0002716
5293	PIK3CD	Decreased circulating IgG2 level	HP:0008348
5293	PIK3CD	Specific pneumococcal antibody deficiency	HP:0012476
5293	PIK3CD	Bronchiectasis	HP:0002110
79023	NUP37	Cerebellar vermis hypoplasia	HP:0001320
79023	NUP37	Congenital onset	HP:0003577
5295	PIK3R1	Hyperglycemia	HP:0003074
5295	PIK3R1	Autosomal dominant inheritance	HP:0000006
5295	PIK3R1	Cataract	HP:0000518
5295	PIK3R1	Autosomal recessive inheritance	HP:0000007
5295	PIK3R1	Meningitis	HP:0001287
5295	PIK3R1	Infantile onset	HP:0003593
5295	PIK3R1	Malar flattening	HP:0000272
5295	PIK3R1	Corneal opacity	HP:0007957
5295	PIK3R1	Abnormality of the mandible	HP:0000277
5295	PIK3R1	Inguinal hernia	HP:0000023
5295	PIK3R1	Midface retrusion	HP:0011800
5295	PIK3R1	Epicanthus	HP:0000286
5295	PIK3R1	Weight loss	HP:0001824
5295	PIK3R1	Myopia	HP:0000545
5295	PIK3R1	Poor appetite	HP:0004396
5295	PIK3R1	Recurrent skin infections	HP:0001581
5295	PIK3R1	Rieger anomaly	HP:0000558
5295	PIK3R1	Diabetes mellitus	HP:0000819
5295	PIK3R1	Cellulitis	HP:0100658
5295	PIK3R1	Alopecia	HP:0001596
5295	PIK3R1	Joint hyperflexibility	HP:0005692
5295	PIK3R1	Hypertelorism	HP:0000316
5295	PIK3R1	Bronchiectasis	HP:0002110
5295	PIK3R1	Insulin-resistant diabetes mellitus	HP:0000831
5295	PIK3R1	Triangular face	HP:0000325
5295	PIK3R1	Premature skin wrinkling	HP:0100678
5295	PIK3R1	Prominent supraorbital ridges	HP:0000336
5295	PIK3R1	Agammaglobulinemia	HP:0004432
5295	PIK3R1	Abnormal anterior chamber morphology	HP:0000593
5295	PIK3R1	Neutropenia	HP:0001875
5295	PIK3R1	Hepatitis	HP:0012115
5295	PIK3R1	Enlarged epiphyses	HP:0010580
5295	PIK3R1	Insulin resistance	HP:0000855
5295	PIK3R1	Arthritis	HP:0001369
5295	PIK3R1	Fatigue	HP:0012378
5295	PIK3R1	Micrognathia	HP:0000347
5295	PIK3R1	Lymphopenia	HP:0001888
5295	PIK3R1	Abnormal pupil morphology	HP:0000615
5295	PIK3R1	Verrucae	HP:0200043
5295	PIK3R1	Joint laxity	HP:0001388
5295	PIK3R1	Posterior embryotoxon	HP:0000627
5295	PIK3R1	Neurological speech impairment	HP:0002167
5295	PIK3R1	External ear malformation	HP:0008572
5295	PIK3R1	Brachydactyly	HP:0001156
5295	PIK3R1	Clinodactyly	HP:0030084
5295	PIK3R1	Chronic otitis media	HP:0000389
5295	PIK3R1	Autoimmunity	HP:0002960
5295	PIK3R1	Macrotia	HP:0000400
5295	PIK3R1	Sensorineural hearing impairment	HP:0000407
5295	PIK3R1	Dehydration	HP:0001944
5295	PIK3R1	Fever	HP:0001945
5295	PIK3R1	Downturned corners of mouth	HP:0002714
5295	PIK3R1	Abnormality of the immune system	HP:0002715
5295	PIK3R1	Hypodontia	HP:0000668
5295	PIK3R1	Recurrent respiratory infections	HP:0002205
5295	PIK3R1	Recurrent bacterial infections	HP:0002718
5295	PIK3R1	B-cell lymphoma	HP:0012191
5295	PIK3R1	Immunodeficiency	HP:0002721
5295	PIK3R1	Lipodystrophy	HP:0009125
5295	PIK3R1	Abnormality of dental enamel	HP:0000682
5295	PIK3R1	Delayed eruption of teeth	HP:0000684
5295	PIK3R1	Chronic lymphatic leukemia	HP:0005550
5295	PIK3R1	Underdeveloped nasal alae	HP:0000430
5295	PIK3R1	Wide nasal bridge	HP:0000431
5295	PIK3R1	Dental malocclusion	HP:0000689
5295	PIK3R1	Microdontia	HP:0000691
5295	PIK3R1	Severe short stature	HP:0003510
5295	PIK3R1	Short palm	HP:0004279
5295	PIK3R1	Abnormality of the skin	HP:0000951
5295	PIK3R1	Delayed skeletal maturation	HP:0002750
5295	PIK3R1	Cough	HP:0012735
5295	PIK3R1	Osteomyelitis	HP:0002754
5295	PIK3R1	Thin skin	HP:0000963
5295	PIK3R1	Sepsis	HP:0100806
5295	PIK3R1	Prominent forehead	HP:0011220
5295	PIK3R1	Frontal bossing	HP:0002007
5295	PIK3R1	Decreased antibody level in blood	HP:0004313
5295	PIK3R1	High palate	HP:0000218
5295	PIK3R1	Skin rash	HP:0000988
5295	PIK3R1	Diarrhea	HP:0002014
5295	PIK3R1	Excessive wrinkled skin	HP:0007392
5295	PIK3R1	Lipoatrophy	HP:0100578
5295	PIK3R1	Failure to thrive	HP:0001508
5295	PIK3R1	Megalocornea	HP:0000485
5295	PIK3R1	Intrauterine growth retardation	HP:0001511
5295	PIK3R1	Malabsorption	HP:0002024
5295	PIK3R1	Birth length less than 3rd percentile	HP:0003561
5295	PIK3R1	Deeply set eye	HP:0000490
5295	PIK3R1	Hypotrichosis	HP:0001006
5295	PIK3R1	Small for gestational age	HP:0001518
5295	PIK3R1	Delayed speech and language development	HP:0000750
5295	PIK3R1	Glaucoma	HP:0000501
5295	PIK3R1	Sinusitis	HP:0000246
5295	PIK3R1	Telecanthus	HP:0000506
5295	PIK3R1	Radial deviation of finger	HP:0009466
5295	PIK3R1	Hypoplasia of the iris	HP:0007676
5295	PIK3R1	Conjunctivitis	HP:0000509
5295	PIK3R1	Dimple chin	HP:0010751
5296	PIK3R2	Macrocephaly	HP:0000256
5296	PIK3R2	Skeletal muscle atrophy	HP:0003202
5296	PIK3R2	Abnormally large globe	HP:0001090
5296	PIK3R2	Autosomal dominant inheritance	HP:0000006
5296	PIK3R2	Postaxial hand polydactyly	HP:0001162
5296	PIK3R2	Megalencephaly	HP:0001355
5296	PIK3R2	Intellectual disability, profound	HP:0002187
5296	PIK3R2	Polymicrogyria	HP:0002126
5296	PIK3R2	Pachygyria	HP:0001302
5296	PIK3R2	Vascular ring	HP:0010775
5296	PIK3R2	Frontal bossing	HP:0002007
5296	PIK3R2	High forehead	HP:0000348
5296	PIK3R2	Ventricular septal defect	HP:0001629
5296	PIK3R2	Atrial septal defect	HP:0001631
5296	PIK3R2	Hypoplasia of the corpus callosum	HP:0002079
5296	PIK3R2	Narrow mouth	HP:0000160
5296	PIK3R2	Depressed nasal bridge	HP:0005280
5296	PIK3R2	Seizures	HP:0001250
5296	PIK3R2	Postaxial polydactyly	HP:0100259
5296	PIK3R2	Thick corpus callosum	HP:0007074
5296	PIK3R2	Muscular hypotonia of the trunk	HP:0008936
5296	PIK3R2	Blindness	HP:0000618
5296	PIK3R2	Knee flexion contracture	HP:0006380
5296	PIK3R2	Hydrocephalus	HP:0000238
5296	PIK3R2	Global developmental delay	HP:0001263
5296	PIK3R2	Abnormal nasal morphology	HP:0005105
5296	PIK3R2	Mitral regurgitation	HP:0001653
5296	PIK3R2	Kyphosis	HP:0002808
5296	PIK3R2	Telecanthus	HP:0000506
5296	PIK3R2	Hypertelorism	HP:0000316
5296	PIK3R2	Ptosis	HP:0000508
5296	PIK3R2	Long palpebral fissure	HP:0000637
5296	PIK3R2	Abnormal localization of kidney	HP:0100542
5296	PIK3R2	Thoracic scoliosis	HP:0002943
136371	ASB10	Ocular hypertension	HP:0007906
136371	ASB10	Autosomal dominant inheritance	HP:0000006
136371	ASB10	Open angle glaucoma	HP:0012108
136371	ASB10	Increased cup-to-disc ratio	HP:0012796
136371	ASB10	Glaucomatous visual field defect	HP:0007854
5297	PI4KA	Talipes equinovarus	HP:0001762
5297	PI4KA	Arthrogryposis multiplex congenita	HP:0002804
5297	PI4KA	Autosomal recessive inheritance	HP:0000007
5297	PI4KA	Cerebellar dysplasia	HP:0007033
5297	PI4KA	Congenital onset	HP:0003577
5297	PI4KA	Cerebellar hypoplasia	HP:0001321
5297	PI4KA	Micrognathia	HP:0000347
5297	PI4KA	Dolichocephaly	HP:0000268
5297	PI4KA	Externally rotated hips	HP:0008796
5297	PI4KA	Overlapping fingers	HP:0010557
5297	PI4KA	Polymicrogyria	HP:0002126
128178	EDARADD	Absent nipple	HP:0002561
128178	EDARADD	Autosomal dominant inheritance	HP:0000006
128178	EDARADD	Sparse hair	HP:0008070
128178	EDARADD	Autosomal recessive inheritance	HP:0000007
128178	EDARADD	Sparse eyelashes	HP:0000653
128178	EDARADD	Heterogeneous	HP:0001425
128178	EDARADD	Sparse and thin eyebrow	HP:0000535
128178	EDARADD	Hypodontia	HP:0000668
128178	EDARADD	Recurrent respiratory infections	HP:0002205
128178	EDARADD	Depressed nasal bridge	HP:0005280
128178	EDARADD	Sparse scalp hair	HP:0002209
128178	EDARADD	Anodontia	HP:0000674
128178	EDARADD	Abnormality of the forehead	HP:0000290
128178	EDARADD	Fine hair	HP:0002213
128178	EDARADD	Oligodontia	HP:0000677
128178	EDARADD	Slow-growing hair	HP:0002217
128178	EDARADD	Hypoplasia of teeth	HP:0000685
128178	EDARADD	Premature loss of primary teeth	HP:0006323
128178	EDARADD	Microdontia	HP:0000691
128178	EDARADD	Everted upper lip vermilion	HP:0010803
128178	EDARADD	Thick vermilion border	HP:0012471
128178	EDARADD	Sparse body hair	HP:0002231
128178	EDARADD	Hypohidrotic ectodermal dysplasia	HP:0007607
128178	EDARADD	Conical tooth	HP:0000698
128178	EDARADD	Alopecia	HP:0001596
128178	EDARADD	Dry skin	HP:0000958
128178	EDARADD	Thin skin	HP:0000963
128178	EDARADD	Eczema	HP:0000964
128178	EDARADD	Abnormal toenail morphology	HP:0008388
128178	EDARADD	Hypohidrosis	HP:0000966
128178	EDARADD	Hypoplasia of the maxilla	HP:0000327
128178	EDARADD	Ectodermal dysplasia	HP:0000968
128178	EDARADD	Depressed nasal ridge	HP:0000457
128178	EDARADD	Anhidrosis	HP:0000970
128178	EDARADD	Abnormal fingernail morphology	HP:0001231
128178	EDARADD	Abnormality of dental morphology	HP:0006482
128178	EDARADD	Periorbital hyperpigmentation	HP:0001106
128178	EDARADD	Abnormal number of teeth	HP:0006483
128178	EDARADD	Prominent forehead	HP:0011220
128178	EDARADD	Frontal bossing	HP:0002007
128178	EDARADD	Xerostomia	HP:0000217
128178	EDARADD	Sparse lateral eyebrow	HP:0005338
128178	EDARADD	Micrognathia	HP:0000347
128178	EDARADD	Periorbital wrinkles	HP:0000607
128178	EDARADD	Rhinitis	HP:0012384
128178	EDARADD	Abnormality of skin pigmentation	HP:0001000
128178	EDARADD	Everted lower lip vermilion	HP:0000232
128178	EDARADD	Hypotrichosis	HP:0001006
128178	EDARADD	Nail dysplasia	HP:0002164
128178	EDARADD	Hypoplastic nipples	HP:0002557
128178	EDARADD	Heat intolerance	HP:0002046
128178	EDARADD	Malignant hyperthermia	HP:0002047
54453	RIN2	Ichthyosis	HP:0008064
54453	RIN2	Umbilical hernia	HP:0001537
54453	RIN2	Prolonged bleeding time	HP:0003010
54453	RIN2	Brachydactyly	HP:0001156
54453	RIN2	Sparse hair	HP:0008070
54453	RIN2	Autosomal recessive inheritance	HP:0000007
54453	RIN2	Hyperextensible skin	HP:0000974
54453	RIN2	Aortic aneurysm	HP:0004942
54453	RIN2	Irregular dentition	HP:0040079
54453	RIN2	Premature ovarian insufficiency	HP:0008209
54453	RIN2	Bruising susceptibility	HP:0000978
54453	RIN2	High pitched voice	HP:0001620
54453	RIN2	Gingival overgrowth	HP:0000212
54453	RIN2	Urethral stenosis	HP:0008661
54453	RIN2	Sparse and thin eyebrow	HP:0000535
54453	RIN2	Long philtrum	HP:0000343
54453	RIN2	Coarse facial features	HP:0000280
54453	RIN2	Scoliosis	HP:0002650
54453	RIN2	High palate	HP:0000218
54453	RIN2	Cryptorchidism	HP:0000028
54453	RIN2	Infra-orbital fold	HP:0011232
54453	RIN2	Sparse scalp hair	HP:0002209
54453	RIN2	Short stature	HP:0004322
54453	RIN2	Pes planus	HP:0001763
54453	RIN2	Increased susceptibility to fractures	HP:0002659
54453	RIN2	Muscular hypotonia	HP:0001252
54453	RIN2	Decreased body weight	HP:0004325
54453	RIN2	Joint hypermobility	HP:0001382
54453	RIN2	Osteoporosis	HP:0000939
54453	RIN2	Downslanted palpebral fissures	HP:0000494
54453	RIN2	Redundant skin	HP:0001582
54453	RIN2	Hypergonadotropic hypogonadism	HP:0000815
54453	RIN2	Hirsutism	HP:0001007
54453	RIN2	Thick lower lip vermilion	HP:0000179
54453	RIN2	Upper eyelid edema	HP:0012724
54453	RIN2	Eclabion	HP:0012472
54453	RIN2	Single transverse palmar crease	HP:0000954
54453	RIN2	High myopia	HP:0011003
54453	RIN2	Alopecia	HP:0001596
54453	RIN2	Palpebral edema	HP:0100540
54453	RIN2	Bronchiectasis	HP:0002110
54453	RIN2	Abnormality of the sternum	HP:0000766
54453	RIN2	Cognitive impairment	HP:0100543
144568	A2ML1	Pectus carinatum	HP:0000768
144568	A2ML1	Brachydactyly	HP:0001156
144568	A2ML1	Thickened helices	HP:0000391
144568	A2ML1	Proptosis	HP:0000520
144568	A2ML1	Abnormality of coagulation	HP:0001928
144568	A2ML1	Enlarged thorax	HP:0100625
144568	A2ML1	Sensorineural hearing impairment	HP:0000407
144568	A2ML1	Midface retrusion	HP:0011800
144568	A2ML1	Arrhythmia	HP:0011675
144568	A2ML1	Cryptorchidism	HP:0000028
144568	A2ML1	Radioulnar synostosis	HP:0002974
144568	A2ML1	Coarse hair	HP:0002208
144568	A2ML1	Feeding difficulties in infancy	HP:0008872
144568	A2ML1	Hypogonadotrophic hypogonadism	HP:0000044
144568	A2ML1	Muscle weakness	HP:0001324
144568	A2ML1	Thick lower lip vermilion	HP:0000179
144568	A2ML1	Abnormal dermatoglyphics	HP:0007477
144568	A2ML1	Hypertelorism	HP:0000316
144568	A2ML1	Joint hyperflexibility	HP:0005692
144568	A2ML1	Delayed skeletal maturation	HP:0002750
144568	A2ML1	Pulmonary artery stenosis	HP:0004415
144568	A2ML1	Hepatomegaly	HP:0002240
144568	A2ML1	Triangular face	HP:0000325
144568	A2ML1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
144568	A2ML1	Abnormality of the spleen	HP:0001743
144568	A2ML1	Webbed neck	HP:0000465
144568	A2ML1	Wide intermamillary distance	HP:0006610
144568	A2ML1	Scoliosis	HP:0002650
144568	A2ML1	Thickened nuchal skin fold	HP:0000474
144568	A2ML1	High palate	HP:0000218
144568	A2ML1	Micrognathia	HP:0000347
144568	A2ML1	Cystic hygroma	HP:0000476
144568	A2ML1	High forehead	HP:0000348
144568	A2ML1	Abnormal platelet function	HP:0011869
144568	A2ML1	Short stature	HP:0004322
144568	A2ML1	Abnormal hair quantity	HP:0011362
144568	A2ML1	Melanocytic nevus	HP:0000995
144568	A2ML1	Abnormal bleeding	HP:0001892
144568	A2ML1	Muscular hypotonia	HP:0001252
144568	A2ML1	Strabismus	HP:0000486
144568	A2ML1	Abnormal pulmonary valve morphology	HP:0001641
144568	A2ML1	Dysarthria	HP:0001260
144568	A2ML1	Lymphedema	HP:0001004
144568	A2ML1	Downslanted palpebral fissures	HP:0000494
144568	A2ML1	Low-set, posteriorly rotated ears	HP:0000368
144568	A2ML1	Clinodactyly of the 5th finger	HP:0004209
144568	A2ML1	Low posterior hairline	HP:0002162
144568	A2ML1	Aplasia of the semicircular canal	HP:0011381
144568	A2ML1	Ptosis	HP:0000508
144568	A2ML1	Pectus excavatum	HP:0000767
144568	A2ML1	Nystagmus	HP:0000639
5307	PITX1	Macrocephaly	HP:0000256
5307	PITX1	Elbow dislocation	HP:0003042
5307	PITX1	Talipes equinovarus	HP:0001762
5307	PITX1	Brachydactyly	HP:0001156
5307	PITX1	Aplasia/Hypoplasia of the radius	HP:0006501
5307	PITX1	Foot polydactyly	HP:0001829
5307	PITX1	Autosomal dominant inheritance	HP:0000006
5307	PITX1	Abnormality of the carpal bones	HP:0001191
5307	PITX1	Metaphyseal widening	HP:0003016
5307	PITX1	Abnormal distal phalanx morphology of finger	HP:0009832
5307	PITX1	Elbow flexion contracture	HP:0002987
5307	PITX1	Joint stiffness	HP:0001387
5307	PITX1	Radially deviated wrists	HP:0006190
5307	PITX1	Abnormal fingernail morphology	HP:0001231
5307	PITX1	2-3 finger syndactyly	HP:0001233
5307	PITX1	Clinodactyly of the 5th finger	HP:0004209
5307	PITX1	Abnormality of the ulna	HP:0002997
5307	PITX1	Incomplete penetrance	HP:0003829
5307	PITX1	Abnormality of the humerus	HP:0003063
5307	PITX1	Synostosis of carpal bones	HP:0005048
5307	PITX1	Patellar hypoplasia	HP:0003065
5307	PITX1	Joint contracture of the 5th finger	HP:0009183
5308	PITX2	Abnormality of the corneal limbus	HP:0025348
5308	PITX2	Autosomal dominant inheritance	HP:0000006
5308	PITX2	Amblyopia	HP:0000646
5308	PITX2	Subcapsular cataract	HP:0000523
5308	PITX2	Corneal astigmatism	HP:0025612
5308	PITX2	Aniridia	HP:0000526
5308	PITX2	Heterogeneous	HP:0001425
5308	PITX2	Peters anomaly	HP:0000659
5308	PITX2	Midface retrusion	HP:0011800
5308	PITX2	Hypodontia	HP:0000668
5308	PITX2	Depressed nasal bridge	HP:0005280
5308	PITX2	Abnormality of the dentition	HP:0000164
5308	PITX2	Redundant skin	HP:0001582
5308	PITX2	Rieger anomaly	HP:0000558
5308	PITX2	Hypospadias	HP:0000047
5308	PITX2	Wide nasal bridge	HP:0000431
5308	PITX2	Iris hypopigmentation	HP:0007730
5308	PITX2	Microdontia	HP:0000691
5308	PITX2	Hypoplastic iris stroma	HP:0007990
5308	PITX2	Thinning of Descemet membrane	HP:0031159
5308	PITX2	Growth hormone deficiency	HP:0000824
5308	PITX2	Hypertelorism	HP:0000316
5308	PITX2	Developmental glaucoma	HP:0001087
5308	PITX2	Abnormally prominent line of Schwalbe	HP:0007873
5308	PITX2	Short philtrum	HP:0000322
5308	PITX2	Hypoplasia of the maxilla	HP:0000327
5308	PITX2	Abnormality of the abdominal wall	HP:0004298
5308	PITX2	Abnormal facial shape	HP:0001999
5308	PITX2	Prominent supraorbital ridges	HP:0000336
5308	PITX2	Abnormal anterior chamber morphology	HP:0000593
5308	PITX2	Prominent forehead	HP:0011220
5308	PITX2	Abnormality of cardiovascular system morphology	HP:0030680
5308	PITX2	Anterior synechiae of the anterior chamber	HP:0011483
5308	PITX2	Thin upper lip vermilion	HP:0000219
5308	PITX2	Abnormality of the hypothalamus-pituitary axis	HP:0000864
5308	PITX2	Abnormal cornea morphology	HP:0000481
5308	PITX2	Conjunctival dermolipoma	HP:0500070
5308	PITX2	Microcornea	HP:0000482
5308	PITX2	Central opacification of the cornea	HP:0011493
5308	PITX2	Megalocornea	HP:0000485
5308	PITX2	Strabismus	HP:0000486
5308	PITX2	Growth delay	HP:0001510
5308	PITX2	Anal atresia	HP:0002023
5308	PITX2	Everted lower lip vermilion	HP:0000232
5308	PITX2	Anal stenosis	HP:0002025
5308	PITX2	Polycoria	HP:0011500
5308	PITX2	Hearing impairment	HP:0000365
5308	PITX2	Posterior embryotoxon	HP:0000627
5308	PITX2	Variable expressivity	HP:0003828
5308	PITX2	Glaucoma	HP:0000501
5308	PITX2	Aplasia/Hypoplasia of the iris	HP:0008053
5308	PITX2	Abnormal conjunctiva morphology	HP:0000502
5308	PITX2	Telecanthus	HP:0000506
5308	PITX2	Hypoplasia of the iris	HP:0007676
5308	PITX2	Nystagmus	HP:0000639
5309	PITX3	Umbilical hernia	HP:0001537
5309	PITX3	Autosomal dominant inheritance	HP:0000006
5309	PITX3	Cataract	HP:0000518
5309	PITX3	Autosomal recessive inheritance	HP:0000007
5309	PITX3	Keratoconjunctivitis sicca	HP:0001097
5309	PITX3	Short palpebral fissure	HP:0012745
5309	PITX3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
5309	PITX3	Optic nerve coloboma	HP:0000588
5309	PITX3	Abnormality of the genital system	HP:0000078
5309	PITX3	Opacification of the corneal stroma	HP:0007759
5309	PITX3	Macular hypoplasia	HP:0001104
5309	PITX3	Peters anomaly	HP:0000659
5309	PITX3	Ocular anterior segment dysgenesis	HP:0007700
5309	PITX3	Corneal erosion	HP:0200020
5309	PITX3	Sensorineural hearing impairment	HP:0000407
5309	PITX3	Chorea	HP:0002072
5309	PITX3	Posterior polar cataract	HP:0001115
5309	PITX3	Abnormality of the hypothalamus-pituitary axis	HP:0000864
5309	PITX3	Intellectual disability	HP:0001249
5309	PITX3	Optic nerve hypoplasia	HP:0000609
5309	PITX3	Microcornea	HP:0000482
5309	PITX3	Ocular hypertension	HP:0007906
5309	PITX3	Reduced tendon reflexes	HP:0001315
5309	PITX3	Abnormality of the dentition	HP:0000164
5309	PITX3	Photophobia	HP:0000613
5309	PITX3	Strabismus	HP:0000486
5309	PITX3	Corneal neovascularization	HP:0011496
5309	PITX3	Blindness	HP:0000618
5309	PITX3	Global developmental delay	HP:0001263
5309	PITX3	Iris hypopigmentation	HP:0007730
5309	PITX3	Keratoconus	HP:0000563
5309	PITX3	Macular hypopigmentation	HP:0007988
5309	PITX3	Aplasia/Hypoplasia of the iris	HP:0008053
5309	PITX3	Glaucoma	HP:0000501
5309	PITX3	Microphthalmia	HP:0000568
5309	PITX3	Abnormality of the sense of smell	HP:0004408
5309	PITX3	Visual impairment	HP:0000505
5309	PITX3	Ectopia lentis	HP:0001083
5309	PITX3	Hypertonia	HP:0001276
5309	PITX3	Ptosis	HP:0000508
5309	PITX3	Nystagmus	HP:0000639
5310	PKD1	Polycystic kidney dysplasia	HP:0000113
5310	PKD1	Mitral valve prolapse	HP:0001634
5310	PKD1	Renal insufficiency	HP:0000083
5310	PKD1	Mitral regurgitation	HP:0001653
5310	PKD1	Cerebral berry aneurysm	HP:0007029
5310	PKD1	Hypertension	HP:0000822
5310	PKD1	Autosomal dominant inheritance	HP:0000006
5310	PKD1	Colonic diverticula	HP:0002253
5310	PKD1	Hepatic cysts	HP:0001407
29887	SNX10	Macrocephaly	HP:0000256
29887	SNX10	Hepatomegaly	HP:0002240
29887	SNX10	Feeding difficulties	HP:0011968
29887	SNX10	Abnormal blistering of the skin	HP:0008066
29887	SNX10	Otitis media	HP:0000388
29887	SNX10	Abnormality of the ribs	HP:0000772
29887	SNX10	Facial palsy	HP:0010628
29887	SNX10	Recurrent fractures	HP:0002757
29887	SNX10	Narrow chest	HP:0000774
29887	SNX10	Autosomal recessive inheritance	HP:0000007
29887	SNX10	Optic atrophy	HP:0000648
29887	SNX10	Abnormality of visual evoked potentials	HP:0000649
29887	SNX10	Splenomegaly	HP:0001744
29887	SNX10	Chronic rhinitis	HP:0002257
29887	SNX10	Thrombocytopenia	HP:0001873
29887	SNX10	Bruising susceptibility	HP:0000978
29887	SNX10	Abnormality of temperature regulation	HP:0004370
29887	SNX10	Craniosynostosis	HP:0001363
29887	SNX10	Pallor	HP:0000980
29887	SNX10	Hypocalcemia	HP:0002901
29887	SNX10	Bowing of the long bones	HP:0006487
29887	SNX10	Frontal bossing	HP:0002007
29887	SNX10	Lymphadenopathy	HP:0002716
29887	SNX10	Bone pain	HP:0002653
29887	SNX10	Recurrent respiratory infections	HP:0002205
29887	SNX10	Abnormality of hair texture	HP:0010719
29887	SNX10	Hypophosphatemia	HP:0002148
29887	SNX10	Failure to thrive	HP:0001508
29887	SNX10	Growth delay	HP:0001510
29887	SNX10	Cranial nerve paralysis	HP:0006824
29887	SNX10	Abnormal pulmonary valve morphology	HP:0001641
29887	SNX10	Abnormality of epiphysis morphology	HP:0005930
29887	SNX10	Pulmonary arterial hypertension	HP:0002092
29887	SNX10	Delayed eruption of teeth	HP:0000684
29887	SNX10	Hearing impairment	HP:0000365
29887	SNX10	Hydrocephalus	HP:0000238
29887	SNX10	Opsoclonus	HP:0010543
29887	SNX10	Anemia	HP:0001903
29887	SNX10	Abnormality of the metaphysis	HP:0000944
29887	SNX10	Premature loss of primary teeth	HP:0006323
29887	SNX10	Apnea	HP:0002104
29887	SNX10	Visual impairment	HP:0000505
29887	SNX10	Tremor	HP:0001337
29887	SNX10	Osteopetrosis	HP:0011002
29887	SNX10	Reduced bone mineral density	HP:0004349
29887	SNX10	Nystagmus	HP:0000639
29887	SNX10	Pulmonary artery stenosis	HP:0004415
29887	SNX10	Optic nerve compression	HP:0007807
54463	RETREG1	Decreased corneal reflex	HP:0008000
54463	RETREG1	Osteomyelitis	HP:0002754
54463	RETREG1	Skeletal muscle atrophy	HP:0003202
54463	RETREG1	Areflexia	HP:0001284
54463	RETREG1	Autosomal recessive inheritance	HP:0000007
54463	RETREG1	Dystrophic fingernails	HP:0008391
54463	RETREG1	Abnormality of the hip bone	HP:0003272
54463	RETREG1	Infantile onset	HP:0003593
54463	RETREG1	Generalized hypotonia	HP:0001290
54463	RETREG1	Anhidrosis	HP:0000970
54463	RETREG1	Hyperhidrosis	HP:0000975
54463	RETREG1	Dystrophic toenail	HP:0001810
54463	RETREG1	Abnormality of metabolism/homeostasis	HP:0001939
54463	RETREG1	Urinary incontinence	HP:0000020
54463	RETREG1	Abnormality of the ankles	HP:0003028
54463	RETREG1	Peripheral axonal neuropathy	HP:0003477
54463	RETREG1	Wormian bones	HP:0002645
54463	RETREG1	Paronychia	HP:0001818
54463	RETREG1	Progressive	HP:0003676
54463	RETREG1	Slow progression	HP:0003677
54463	RETREG1	Tapered finger	HP:0001182
54463	RETREG1	Abnormal cortical bone morphology	HP:0003103
54463	RETREG1	Decreased taste sensation	HP:0000224
54463	RETREG1	Autoamputation of digits	HP:0007460
54463	RETREG1	Muscular hypotonia	HP:0001252
54463	RETREG1	Gastroesophageal reflux	HP:0002020
54463	RETREG1	Painless fractures due to injury	HP:0002661
54463	RETREG1	Juvenile onset	HP:0003621
54463	RETREG1	Peripheral neuropathy	HP:0009830
54463	RETREG1	Feeding difficulties in infancy	HP:0008872
54463	RETREG1	Acral ulceration	HP:0006121
54463	RETREG1	Spasticity	HP:0001257
54463	RETREG1	Abnormality of epiphysis morphology	HP:0005930
54463	RETREG1	Osteolytic defects of the phalanges of the hand	HP:0009771
54463	RETREG1	Hyperlordosis	HP:0003307
54463	RETREG1	Episodic hyperhidrosis	HP:0001069
54463	RETREG1	Hyporeflexia	HP:0001265
54463	RETREG1	Foot acroosteolysis	HP:0001842
54463	RETREG1	Decreased number of peripheral myelinated nerve fibers	HP:0003380
54463	RETREG1	Decreased sensory nerve conduction velocity	HP:0003448
54463	RETREG1	Decreased nerve conduction velocity	HP:0000762
54463	RETREG1	Reduced bone mineral density	HP:0004349
54463	RETREG1	Abnormality of the knee	HP:0002815
5311	PKD2	Situs inversus totalis	HP:0001696
5311	PKD2	Polycystic kidney dysplasia	HP:0000113
5311	PKD2	Facial asymmetry	HP:0000324
5311	PKD2	Incomplete penetrance	HP:0003829
5311	PKD2	Autosomal dominant inheritance	HP:0000006
5311	PKD2	Hypertension	HP:0000822
5311	PKD2	Midface retrusion	HP:0011800
5311	PKD2	Recurrent urinary tract infections	HP:0000010
5311	PKD2	Elevated serum creatinine	HP:0003259
5311	PKD2	Progressive	HP:0003676
5311	PKD2	Stage 5 chronic kidney disease	HP:0003774
5311	PKD2	Hepatic cysts	HP:0001407
5313	PKLR	Reticulocytosis	HP:0001923
5313	PKLR	Congenital hemolytic anemia	HP:0004804
5313	PKLR	Autosomal dominant inheritance	HP:0000006
5313	PKLR	Chronic hemolytic anemia	HP:0004870
5313	PKLR	Autosomal recessive inheritance	HP:0000007
5313	PKLR	Intrauterine growth retardation	HP:0001511
5313	PKLR	Anisocytosis	HP:0011273
5313	PKLR	Polycythemia	HP:0001901
5313	PKLR	Elevated transferrin saturation	HP:0012463
5313	PKLR	Splenomegaly	HP:0001744
5313	PKLR	Increased serum ferritin	HP:0003281
5313	PKLR	Prolonged neonatal jaundice	HP:0006579
5313	PKLR	Reduced red cell pyruvate kinase activity	HP:0025109
5313	PKLR	Abnormality of the amniotic fluid	HP:0001560
5313	PKLR	Jaundice	HP:0000952
5313	PKLR	Cholelithiasis	HP:0001081
5313	PKLR	Unconjugated hyperbilirubinemia	HP:0008282
5313	PKLR	Cholecystitis	HP:0001082
5313	PKLR	Increased serum iron	HP:0003452
5313	PKLR	Hydrops fetalis	HP:0001789
5313	PKLR	Nonimmune hydrops fetalis	HP:0001790
5313	PKLR	Increased red cell osmotic fragility	HP:0005502
5313	PKLR	Reduced erythrocyte 2,3-diphosphoglycerate concentration	HP:0030271
5313	PKLR	Poikilocytosis	HP:0004447
259266	ASPM	Hyperreflexia	HP:0001347
259266	ASPM	Upslanted palpebral fissure	HP:0000582
259266	ASPM	Ventriculomegaly	HP:0002119
259266	ASPM	Autosomal recessive inheritance	HP:0000007
259266	ASPM	Proptosis	HP:0000520
259266	ASPM	Vesicoureteral reflux	HP:0000076
259266	ASPM	Sloping forehead	HP:0000340
259266	ASPM	Narrow forehead	HP:0000341
259266	ASPM	Pachygyria	HP:0001302
259266	ASPM	Simplified gyral pattern	HP:0009879
259266	ASPM	Thin upper lip vermilion	HP:0000219
259266	ASPM	Abnormal cortical bone morphology	HP:0003103
259266	ASPM	Hypoplasia of the corpus callosum	HP:0002079
259266	ASPM	Intellectual disability	HP:0001249
259266	ASPM	Short stature	HP:0004322
259266	ASPM	Seizures	HP:0001250
259266	ASPM	Hypoplasia of the frontal lobes	HP:0007333
259266	ASPM	Small cerebral cortex	HP:0002472
259266	ASPM	Cerebellar hypoplasia	HP:0001321
259266	ASPM	Gray matter heterotopia	HP:0002282
259266	ASPM	Attention deficit hyperactivity disorder	HP:0007018
259266	ASPM	Cortical dysplasia	HP:0002539
259266	ASPM	Hearing impairment	HP:0000365
259266	ASPM	Delayed speech and language development	HP:0000750
259266	ASPM	Global developmental delay	HP:0001263
259266	ASPM	Intellectual disability, severe	HP:0010864
259266	ASPM	Motor delay	HP:0001270
259266	ASPM	Highly arched eyebrow	HP:0002553
259266	ASPM	Congenital onset	HP:0003577
259266	ASPM	Unilateral renal agenesis	HP:0000122
259266	ASPM	Agenesis of corpus callosum	HP:0001274
259266	ASPM	Microcephaly	HP:0000252
5314	PKHD1	Hepatomegaly	HP:0002240
5314	PKHD1	Portal hypertension	HP:0001409
5314	PKHD1	Autosomal recessive inheritance	HP:0000007
5314	PKHD1	Tubulointerstitial fibrosis	HP:0005576
5314	PKHD1	Pancreatic cysts	HP:0001737
5314	PKHD1	Depressed nasal ridge	HP:0000457
5314	PKHD1	Splenomegaly	HP:0001744
5314	PKHD1	Macrotia	HP:0000400
5314	PKHD1	Renal insufficiency	HP:0000083
5314	PKHD1	Dehydration	HP:0001944
5314	PKHD1	Potter facies	HP:0002009
5314	PKHD1	Oligohydramnios	HP:0001562
5314	PKHD1	Micrognathia	HP:0000347
5314	PKHD1	Neonatal death	HP:0003811
5314	PKHD1	Renal hypoplasia/aplasia	HP:0008678
5314	PKHD1	Enlarged kidney	HP:0000105
5314	PKHD1	Pulmonary hypoplasia	HP:0002089
5314	PKHD1	Renal cyst	HP:0000107
5314	PKHD1	Respiratory insufficiency	HP:0002093
5314	PKHD1	Low-set, posteriorly rotated ears	HP:0000368
5314	PKHD1	Polycystic kidney dysplasia	HP:0000113
5314	PKHD1	Hypoplasia of the ear cartilage	HP:0100720
5314	PKHD1	Congenital hepatic fibrosis	HP:0002612
5314	PKHD1	Esophageal varix	HP:0002040
5314	PKHD1	Biliary tract abnormality	HP:0001080
5314	PKHD1	Multiple renal cysts	HP:0005562
5314	PKHD1	Absence of renal corticomedullary differentiation	HP:0005564
5314	PKHD1	Periportal fibrosis	HP:0001405
5314	PKHD1	Hepatic cysts	HP:0001407
79042	TSEN34	Cerebellar hemisphere hypoplasia	HP:0100307
79042	TSEN34	Dystonia	HP:0001332
79042	TSEN34	Autosomal recessive inheritance	HP:0000007
79042	TSEN34	Chorea	HP:0002072
79042	TSEN34	Cerebellar vermis hypoplasia	HP:0001320
79042	TSEN34	Visual impairment	HP:0000505
79042	TSEN34	Microcephaly	HP:0000252
5317	PKP1	Immunodeficiency	HP:0002721
5317	PKP1	Failure to thrive	HP:0001508
5317	PKP1	Fragile skin	HP:0001030
5317	PKP1	Skin vesicle	HP:0200037
5317	PKP1	Ectodermal dysplasia	HP:0000968
5317	PKP1	Skin ulcer	HP:0200042
5317	PKP1	Chronic diarrhea	HP:0002028
5317	PKP1	Hypotrichosis	HP:0001006
5317	PKP1	Woolly hair	HP:0002224
5317	PKP1	Absent eyelashes	HP:0000561
5317	PKP1	Blepharitis	HP:0000498
5317	PKP1	Abnormal eyebrow morphology	HP:0000534
5317	PKP1	Palmoplantar keratoderma	HP:0000982
5317	PKP1	Alopecia	HP:0001596
5317	PKP1	Abnormality of the nail	HP:0001597
5317	PKP1	Pruritus	HP:0000989
5317	PKP1	Furrowed tongue	HP:0000221
5317	PKP1	Dry skin	HP:0000958
5317	PKP1	Erythema	HP:0010783
29893	PSMC3IP	Streak ovary	HP:0010464
29893	PSMC3IP	Short stature	HP:0004322
29893	PSMC3IP	Ataxia	HP:0001251
29893	PSMC3IP	Secondary amenorrhea	HP:0000869
29893	PSMC3IP	Increased circulating gonadotropin level	HP:0000837
29893	PSMC3IP	Gonadal dysgenesis	HP:0000133
29893	PSMC3IP	Autosomal recessive inheritance	HP:0000007
29893	PSMC3IP	Aplasia/Hypoplasia of the breasts	HP:0010311
29893	PSMC3IP	Osteopenia	HP:0000938
29893	PSMC3IP	Aplasia/hypoplasia of the uterus	HP:0008684
29893	PSMC3IP	Hearing impairment	HP:0000365
29893	PSMC3IP	Arachnodactyly	HP:0001166
29893	PSMC3IP	Decreased fertility	HP:0000144
29893	PSMC3IP	Premature ovarian insufficiency	HP:0008209
29893	PSMC3IP	Sparse pubic hair	HP:0002225
29893	PSMC3IP	Primary amenorrhea	HP:0000786
29893	PSMC3IP	Abnormality of metabolism/homeostasis	HP:0001939
29893	PSMC3IP	Decreased serum estradiol	HP:0008214
29893	PSMC3IP	Delayed puberty	HP:0000823
29893	PSMC3IP	Osteoporosis of vertebrae	HP:0005625
29893	PSMC3IP	Microcephaly	HP:0000252
29893	PSMC3IP	Pulmonary fibrosis	HP:0002206
29893	PSMC3IP	Delayed skeletal maturation	HP:0002750
5318	PKP2	Ventricular arrhythmia	HP:0004308
5318	PKP2	Autosomal dominant inheritance	HP:0000006
5318	PKP2	Dilatation	HP:0002617
5318	PKP2	Dilatation of the ventricular cavity	HP:0006698
5318	PKP2	Palpitations	HP:0001962
5318	PKP2	Sudden cardiac death	HP:0001645
5318	PKP2	Right ventricular cardiomyopathy	HP:0011663
5318	PKP2	Syncope	HP:0001279
79048	SECISBP2	Autosomal recessive inheritance	HP:0000007
79048	SECISBP2	Increased thyroid-stimulating hormone level	HP:0002925
79048	SECISBP2	Delayed skeletal maturation	HP:0002750
29899	GPSM2	Seizures	HP:0001250
29899	GPSM2	Autosomal recessive inheritance	HP:0000007
29899	GPSM2	Ventriculomegaly	HP:0002119
29899	GPSM2	Intellectual disability, mild	HP:0001256
29899	GPSM2	Cerebellar hypoplasia	HP:0001321
29899	GPSM2	Gray matter heterotopia	HP:0002282
29899	GPSM2	Large foramen magnum	HP:0002700
29899	GPSM2	Dysplastic corpus callosum	HP:0006989
29899	GPSM2	Hydrocephalus	HP:0000238
29899	GPSM2	Polymicrogyria	HP:0002126
29899	GPSM2	Severe sensorineural hearing impairment	HP:0008625
29899	GPSM2	Cerebellar dysplasia	HP:0007033
29899	GPSM2	Partial agenesis of the corpus callosum	HP:0001338
29899	GPSM2	Arachnoid cyst	HP:0100702
29899	GPSM2	Hypoplasia of the corpus callosum	HP:0002079
5324	PLAG1	Somatic mutation	HP:0001428
5324	PLAG1	Autosomal dominant inheritance	HP:0000006
5324	PLAG1	Salivary gland neoplasm	HP:0100684
54476	RNF216	Abnormal electroretinogram	HP:0000512
54476	RNF216	Gynecomastia	HP:0000771
54476	RNF216	Autosomal recessive inheritance	HP:0000007
54476	RNF216	Optic atrophy	HP:0000648
54476	RNF216	Cerebral atrophy	HP:0002059
54476	RNF216	Decreased fertility	HP:0000144
54476	RNF216	Abnormality of metabolism/homeostasis	HP:0001939
54476	RNF216	Infertility	HP:0000789
54476	RNF216	Dementia	HP:0000726
54476	RNF216	Hemiplegia/hemiparesis	HP:0004374
54476	RNF216	Abnormality of retinal pigmentation	HP:0007703
54476	RNF216	Abnormality of the skeletal system	HP:0000924
54476	RNF216	Abnormality of the hypothalamus-pituitary axis	HP:0000864
54476	RNF216	Short stature	HP:0004322
54476	RNF216	Ataxia	HP:0001251
54476	RNF216	Muscular hypotonia	HP:0001252
54476	RNF216	Oligomenorrhea	HP:0000876
54476	RNF216	Hypogonadotrophic hypogonadism	HP:0000044
54476	RNF216	Dysarthria	HP:0001260
54476	RNF216	Chorioretinal dystrophy	HP:0001135
54476	RNF216	Personality changes	HP:0000751
54476	RNF216	Clinodactyly of the 5th finger	HP:0004209
54476	RNF216	Neurological speech impairment	HP:0002167
54476	RNF216	Cerebellar atrophy	HP:0001272
54476	RNF216	Brachycephaly	HP:0000248
54476	RNF216	Supernumerary nipple	HP:0002558
54476	RNF216	Nystagmus	HP:0000639
79053	ALG8	Hepatomegaly	HP:0002240
79053	ALG8	Hypoalbuminemia	HP:0003073
79053	ALG8	Decreased liver function	HP:0001410
79053	ALG8	Protein-losing enteropathy	HP:0002243
79053	ALG8	Failure to thrive	HP:0001508
79053	ALG8	Ascites	HP:0001541
79053	ALG8	Cataract	HP:0000518
79053	ALG8	Intrauterine growth retardation	HP:0001511
79053	ALG8	Abnormal cardiac septum morphology	HP:0001671
79053	ALG8	Generalized hypotonia	HP:0001290
79053	ALG8	Patent ductus arteriosus	HP:0001643
79053	ALG8	Lymphedema	HP:0001004
79053	ALG8	Abnormal facial shape	HP:0001999
79053	ALG8	Anemia	HP:0001903
79053	ALG8	Thrombocytopenia	HP:0001873
79053	ALG8	Cholestasis	HP:0001396
79053	ALG8	Hepatic failure	HP:0001399
79053	ALG8	Long philtrum	HP:0000343
79053	ALG8	Abnormal isoelectric focusing of serum transferrin	HP:0003160
79053	ALG8	Abnormal renal tubule morphology	HP:0000091
79053	ALG8	Hypertelorism	HP:0000316
79053	ALG8	Vomiting	HP:0002013
79053	ALG8	Diarrhea	HP:0002014
5325	PLAGL1	Umbilical hernia	HP:0001537
5325	PLAGL1	Hyperglycemia	HP:0003074
5325	PLAGL1	Glycosuria	HP:0003076
5325	PLAGL1	Steatorrhea	HP:0002570
5325	PLAGL1	Apraxia	HP:0002186
5325	PLAGL1	Hypoplastic fingernail	HP:0001804
5325	PLAGL1	Prominent occiput	HP:0000269
5325	PLAGL1	Generalized tonic-clonic seizures	HP:0002069
5325	PLAGL1	Retrognathia	HP:0000278
5325	PLAGL1	Dehydration	HP:0001944
5325	PLAGL1	Oligohydramnios	HP:0001562
5325	PLAGL1	Downturned corners of mouth	HP:0002714
5325	PLAGL1	Cryptorchidism	HP:0000028
5325	PLAGL1	Abnormality of the placenta	HP:0100767
5325	PLAGL1	Macroglossia	HP:0000158
5325	PLAGL1	Weight loss	HP:0001824
5325	PLAGL1	Precocious puberty	HP:0000826
5325	PLAGL1	Transient neonatal diabetes mellitus	HP:0008255
5325	PLAGL1	Prominent nose	HP:0000448
5325	PLAGL1	Hepatomegaly	HP:0002240
5325	PLAGL1	Labial hypertrophy	HP:0000065
5325	PLAGL1	Postnatal growth retardation	HP:0008897
5325	PLAGL1	Shallow orbits	HP:0000586
5325	PLAGL1	Generalized myoclonic seizures	HP:0002123
5325	PLAGL1	Abnormality of the pancreatic islet cells	HP:0006476
5325	PLAGL1	Bilateral ptosis	HP:0001488
5325	PLAGL1	Neonatal respiratory distress	HP:0002643
5325	PLAGL1	Gingival overgrowth	HP:0000212
5325	PLAGL1	Neonatal insulin-dependent diabetes mellitus	HP:0000857
5325	PLAGL1	High palate	HP:0000218
5325	PLAGL1	Micrognathia	HP:0000347
5325	PLAGL1	Abnormal heart morphology	HP:0001627
5325	PLAGL1	Ventricular septal defect	HP:0001629
5325	PLAGL1	Intellectual disability	HP:0001249
5325	PLAGL1	Hypovolemia	HP:0011106
5325	PLAGL1	Failure to thrive	HP:0001508
5325	PLAGL1	Muscular hypotonia	HP:0001252
5325	PLAGL1	Intrauterine growth retardation	HP:0001511
5325	PLAGL1	Ketonuria	HP:0002919
5325	PLAGL1	Cardiomegaly	HP:0001640
5325	PLAGL1	Abnormality of earlobe	HP:0000363
5325	PLAGL1	Patent ductus arteriosus	HP:0001643
5325	PLAGL1	Coma	HP:0001259
5325	PLAGL1	Joint laxity	HP:0001388
5325	PLAGL1	Small anterior fontanelle	HP:0000237
5325	PLAGL1	Hearing impairment	HP:0000365
5325	PLAGL1	Prominent metopic ridge	HP:0005487
5325	PLAGL1	Global developmental delay	HP:0001263
5325	PLAGL1	Arthrogryposis multiplex congenita	HP:0002804
5325	PLAGL1	Motor delay	HP:0001270
5325	PLAGL1	Contractures of the joints of the lower limbs	HP:0005750
5325	PLAGL1	Renal tubular dysfunction	HP:0000124
5327	PLAT	Recurrent deep vein thrombosis	HP:0004850
5327	PLAT	Hypercoagulability	HP:0100724
5327	PLAT	Autosomal dominant inheritance	HP:0000006
5328	PLAU	Thrombocytopenia	HP:0001873
5328	PLAU	Bruising susceptibility	HP:0000978
5328	PLAU	Impaired epinephrine-induced platelet aggregation	HP:0008148
5328	PLAU	Menorrhagia	HP:0000132
5328	PLAU	Epistaxis	HP:0000421
5328	PLAU	Autosomal dominant inheritance	HP:0000006
5328	PLAU	Joint hemorrhage	HP:0005261
79058	ASPSCR1	Somatic mutation	HP:0001428
79058	ASPSCR1	Alveolar soft part sarcoma	HP:0012218
5332	PLCB4	Speech articulation difficulties	HP:0009088
5332	PLCB4	Macrocephaly	HP:0000256
5332	PLCB4	Preauricular skin tag	HP:0000384
5332	PLCB4	Feeding difficulties	HP:0011968
5332	PLCB4	Bifid uvula	HP:0000193
5332	PLCB4	Abnormality of the temporomandibular joint	HP:0010754
5332	PLCB4	Aplasia/Hypoplasia of the external ear	HP:0008772
5332	PLCB4	Facial asymmetry	HP:0000324
5332	PLCB4	Autosomal dominant inheritance	HP:0000006
5332	PLCB4	Question mark ear	HP:0030022
5332	PLCB4	Autosomal recessive inheritance	HP:0000007
5332	PLCB4	Generalized hypotonia	HP:0001290
5332	PLCB4	Mandibular condyle aplasia	HP:0007627
5332	PLCB4	Mandibular condyle hypoplasia	HP:0007628
5332	PLCB4	Cleft at the superior portion of the pinna	HP:0008537
5332	PLCB4	Hamartoma of tongue	HP:0011802
5332	PLCB4	Narrow mouth	HP:0000160
5332	PLCB4	Glossoptosis	HP:0000162
5332	PLCB4	Overfolding of the superior helices	HP:0004453
5332	PLCB4	Ankylosis	HP:0031013
5332	PLCB4	Full cheeks	HP:0000293
5332	PLCB4	Posteriorly rotated ears	HP:0000358
5332	PLCB4	Dental crowding	HP:0000678
5332	PLCB4	Abnormality of the crus of the helix	HP:0009895
5332	PLCB4	Microglossia	HP:0000171
5332	PLCB4	Hearing impairment	HP:0000365
5332	PLCB4	Cleft helix	HP:0009902
5332	PLCB4	Cleft palate	HP:0000175
5332	PLCB4	Hypoplastic superior helix	HP:0008559
5332	PLCB4	Global developmental delay	HP:0001263
5332	PLCB4	Low-set, posteriorly rotated ears	HP:0000368
5332	PLCB4	Low-set ears	HP:0000369
5332	PLCB4	Dental malocclusion	HP:0000689
5332	PLCB4	Respiratory distress	HP:0002098
5332	PLCB4	Snoring	HP:0025267
5332	PLCB4	Periauricular skin pits	HP:0100277
5332	PLCB4	Obstructive sleep apnea	HP:0002870
5332	PLCB4	Round face	HP:0000311
5332	PLCB4	Difficulty in tongue movements	HP:0000183
5332	PLCB4	Apnea	HP:0002104
5332	PLCB4	Vein of Galen aneurysmal malformation	HP:0030713
5332	PLCB4	External ear malformation	HP:0008572
5332	PLCB4	Ptosis	HP:0000508
5333	PLCD1	Blepharitis	HP:0000498
5333	PLCD1	Nephrolithiasis	HP:0000787
5333	PLCD1	Abnormal eyelash morphology	HP:0000499
5333	PLCD1	Abnormal toenail morphology	HP:0008388
5333	PLCD1	Photophobia	HP:0000613
5333	PLCD1	Autosomal dominant inheritance	HP:0000006
5333	PLCD1	Autosomal recessive inheritance	HP:0000007
5333	PLCD1	Adenoma sebaceum	HP:0009720
5333	PLCD1	Type II diabetes mellitus	HP:0005978
5333	PLCD1	Leukonychia	HP:0001820
5333	PLCD1	Concave nail	HP:0001598
5333	PLCD1	Abnormal fingernail morphology	HP:0001231
54487	DGCR8	Umbilical hernia	HP:0001537
54487	DGCR8	Open mouth	HP:0000194
54487	DGCR8	Abnormality of the hand	HP:0001155
54487	DGCR8	Right aortic arch with mirror image branching	HP:0002627
54487	DGCR8	Blepharophimosis	HP:0000581
54487	DGCR8	Autosomal dominant inheritance	HP:0000006
54487	DGCR8	Double aortic arch	HP:0011590
54487	DGCR8	Pulmonary artery atresia	HP:0004935
54487	DGCR8	Pierre-Robin sequence	HP:0000201
54487	DGCR8	Nasal speech	HP:0001611
54487	DGCR8	Aggressive behavior	HP:0000718
54487	DGCR8	Mood swings	HP:0000720
54487	DGCR8	Hypocalcemia	HP:0002901
54487	DGCR8	Unilateral primary pulmonary dysgenesis	HP:0006549
54487	DGCR8	Abnormality of the ear	HP:0000598
54487	DGCR8	Retrognathia	HP:0000278
54487	DGCR8	Inguinal hernia	HP:0000023
54487	DGCR8	Interrupted aortic arch	HP:0011611
54487	DGCR8	Talipes	HP:0001883
54487	DGCR8	Cryptorchidism	HP:0000028
54487	DGCR8	Velopharyngeal insufficiency	HP:0000220
54487	DGCR8	Ventricular septal defect	HP:0001629
54487	DGCR8	Bulbous nose	HP:0000414
54487	DGCR8	Paranoia	HP:0011999
54487	DGCR8	Recurrent infections	HP:0002719
54487	DGCR8	Intellectual disability	HP:0001249
54487	DGCR8	Narrow palpebral fissure	HP:0045025
54487	DGCR8	Short stature	HP:0004322
54487	DGCR8	Tetralogy of Fallot	HP:0001636
54487	DGCR8	Muscular hypotonia	HP:0001252
54487	DGCR8	Retinal vascular tortuosity	HP:0012841
54487	DGCR8	Underdeveloped nasal alae	HP:0000430
54487	DGCR8	Submucous cleft hard palate	HP:0000176
54487	DGCR8	Specific learning disability	HP:0001328
54487	DGCR8	Posterior embryotoxon	HP:0000627
54487	DGCR8	Impaired T cell function	HP:0005435
54487	DGCR8	Microcephaly	HP:0000252
54487	DGCR8	Hypoparathyroidism	HP:0000829
5336	PLCG2	Decreased circulating IgA level	HP:0002720
5336	PLCG2	Urticaria	HP:0001025
5336	PLCG2	Decreased circulating total IgM	HP:0002850
5336	PLCG2	Autosomal dominant inheritance	HP:0000006
5336	PLCG2	Cataract	HP:0000518
5336	PLCG2	Hashimoto thyroiditis	HP:0000872
5336	PLCG2	Infantile onset	HP:0003593
5336	PLCG2	Arthralgia	HP:0002829
5336	PLCG2	Immune dysregulation	HP:0002958
5336	PLCG2	Bronchiolitis	HP:0011950
5336	PLCG2	Asthma	HP:0002099
5336	PLCG2	Interstitial pneumonitis	HP:0006515
5336	PLCG2	Cellulitis	HP:0100658
5336	PLCG2	Vitiligo	HP:0001045
5336	PLCG2	Ulcerative colitis	HP:0100279
5336	PLCG2	Corneal erosion	HP:0200020
5336	PLCG2	Allergic rhinitis	HP:0003193
5336	PLCG2	Erythema	HP:0010783
5336	PLCG2	Recurrent infections	HP:0002719
5337	PLD1	Mitral valve prolapse	HP:0001634
5337	PLD1	Arteria lusoria	HP:0031014
5337	PLD1	Autosomal recessive inheritance	HP:0000007
5337	PLD1	Hydroureter	HP:0000072
5337	PLD1	Tricuspid valve prolapse	HP:0001704
5337	PLD1	Edema	HP:0000969
5337	PLD1	Tricuspid atresia	HP:0011662
5337	PLD1	Urethral diverticulum	HP:0008722
5337	PLD1	Mitral stenosis	HP:0001718
5337	PLD1	Patent foramen ovale	HP:0001655
5337	PLD1	Inguinal hernia	HP:0000023
5337	PLD1	Tricuspid regurgitation	HP:0005180
5337	PLD1	Hydrops fetalis	HP:0001789
5337	PLD1	Hydronephrosis	HP:0000126
29914	UBIAD1	Crystalline corneal dystrophy	HP:0007760
29914	UBIAD1	Autosomal dominant inheritance	HP:0000006
29914	UBIAD1	Corneal dystrophy	HP:0001131
5339	PLEC	Areflexia	HP:0001284
5339	PLEC	Fragile skin	HP:0001030
5339	PLEC	Anonychia	HP:0001798
5339	PLEC	Autosomal dominant inheritance	HP:0000006
5339	PLEC	Autosomal recessive inheritance	HP:0000007
5339	PLEC	Hypoplastic fingernail	HP:0001804
5339	PLEC	Onychogryposis	HP:0001805
5339	PLEC	Junctional split	HP:0003341
5339	PLEC	Abnormality of the stomach	HP:0002577
5339	PLEC	Hyperconvex fingernails	HP:0001812
5339	PLEC	Calf muscle hypertrophy	HP:0008981
5339	PLEC	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0004631
5339	PLEC	Polyhydramnios	HP:0001561
5339	PLEC	Milia	HP:0001056
5339	PLEC	Echolalia	HP:0010529
5339	PLEC	Aplasia cutis congenita	HP:0001057
5339	PLEC	Axillary pterygium	HP:0001060
5339	PLEC	Loss of ability to walk	HP:0006957
5339	PLEC	Congenital pyloric atresia	HP:0004399
5339	PLEC	Muscle flaccidity	HP:0010547
5339	PLEC	Atrophic scars	HP:0001075
5339	PLEC	Dysphasia	HP:0002357
5339	PLEC	Frequent falls	HP:0002359
5339	PLEC	Exertional dyspnea	HP:0002875
5339	PLEC	Alopecia	HP:0001596
5339	PLEC	Gowers sign	HP:0003391
5339	PLEC	Increased connective tissue	HP:0009025
5339	PLEC	Ureterocele	HP:0000070
5339	PLEC	Proximal upper limb muscle hypertrophy	HP:0040266
5339	PLEC	Nasal speech	HP:0001611
5339	PLEC	Aphasia	HP:0002381
5339	PLEC	Neonatal respiratory distress	HP:0002643
5339	PLEC	Punctate keratitis	HP:0011859
5339	PLEC	Premature birth	HP:0001622
5339	PLEC	Ophthalmoplegia	HP:0000602
5339	PLEC	Fatigue	HP:0012378
5339	PLEC	Flexion contracture	HP:0001371
5339	PLEC	Increased lactate dehydrogenase activity	HP:0025435
5339	PLEC	Distal lower limb muscle weakness	HP:0009053
5339	PLEC	Rapidly progressive	HP:0003678
5339	PLEC	Axial muscle atrophy	HP:0040287
5339	PLEC	Elevated maternal serum alpha-fetoprotein	HP:0005984
5339	PLEC	Limitation of joint mobility	HP:0001376
5339	PLEC	Glomerulosclerosis	HP:0000096
5339	PLEC	Papule	HP:0200034
5339	PLEC	Skin vesicle	HP:0200037
5339	PLEC	Microtia	HP:0008551
5339	PLEC	Skin erosion	HP:0200041
5339	PLEC	Renal dysplasia	HP:0000110
5339	PLEC	Anemia	HP:0001903
5339	PLEC	Progressive proximal muscle weakness	HP:0009073
5339	PLEC	Nail dysplasia	HP:0002164
5339	PLEC	Abnormality of the genitourinary system	HP:0000119
5339	PLEC	Lumbar hyperlordosis	HP:0002938
5339	PLEC	Myopathy	HP:0003198
5339	PLEC	Hydronephrosis	HP:0000126
5339	PLEC	Abnormal blistering of the skin	HP:0008066
5339	PLEC	Skeletal muscle atrophy	HP:0003202
5339	PLEC	EMG: myopathic abnormalities	HP:0003458
5339	PLEC	Plantar hyperkeratosis	HP:0007556
5339	PLEC	Atelectasis	HP:0100750
5339	PLEC	Ectropion	HP:0000656
5339	PLEC	Fatigable weakness	HP:0003473
5339	PLEC	Delayed gross motor development	HP:0002194
5339	PLEC	Dehydration	HP:0001944
5339	PLEC	Hypoplasia of dental enamel	HP:0006297
5339	PLEC	Carious teeth	HP:0000670
5339	PLEC	Pulmonary fibrosis	HP:0002206
5339	PLEC	Skin fragility with non-scarring blistering	HP:0007585
5339	PLEC	Oral mucosal blisters	HP:0200097
5339	PLEC	Elevated serum creatine kinase	HP:0003236
5339	PLEC	Pelvic girdle muscle weakness	HP:0003749
5339	PLEC	Abnormality of dental enamel	HP:0000682
5339	PLEC	Bronchiolitis	HP:0011950
5339	PLEC	Underdeveloped nasal alae	HP:0000430
5339	PLEC	Right bundle branch block	HP:0011712
5339	PLEC	Urethral stricture	HP:0012227
5339	PLEC	Sepsis	HP:0100806
5339	PLEC	Scarring alopecia of scalp	HP:0004552
5339	PLEC	Palmoplantar hyperkeratosis	HP:0000972
5339	PLEC	Bilateral facial palsy	HP:0430025
5339	PLEC	Bilateral ptosis	HP:0001488
5339	PLEC	Onychogryposis of toenails	HP:0008401
5339	PLEC	Bruising susceptibility	HP:0000978
5339	PLEC	Nail dystrophy	HP:0008404
5339	PLEC	Oculomotor nerve palsy	HP:0012246
5339	PLEC	Dysphagia	HP:0002015
5339	PLEC	Difficulty climbing stairs	HP:0003551
5339	PLEC	Short stature	HP:0004322
5339	PLEC	Failure to thrive	HP:0001508
5339	PLEC	Muscular dystrophy	HP:0003560
5339	PLEC	Deeply set eye	HP:0000490
5339	PLEC	Keratitis	HP:0000491
5339	PLEC	Achilles tendon contracture	HP:0001771
5339	PLEC	Aplasia of the bladder	HP:0010477
5339	PLEC	Dermal atrophy	HP:0004334
5339	PLEC	Global developmental delay	HP:0001263
5339	PLEC	Esophageal atresia	HP:0002032
5339	PLEC	Death in infancy	HP:0001522
5339	PLEC	Arthrogryposis multiplex congenita	HP:0002804
5339	PLEC	Motor delay	HP:0001270
5339	PLEC	Congenital onset	HP:0003577
5339	PLEC	Intractable diarrhea	HP:0002041
5339	PLEC	Ptosis	HP:0000508
5339	PLEC	Mutism	HP:0002300
5339	PLEC	Generalized muscle weakness	HP:0003324
5340	PLG	Periodontitis	HP:0000704
5340	PLG	Abnormality of the larynx	HP:0001600
5340	PLG	Macrocephaly	HP:0000256
5340	PLG	Abnormality of fontanelles	HP:0011328
5340	PLG	Hyperreflexia	HP:0001347
5340	PLG	Recurrent pneumonia	HP:0006532
5340	PLG	Epiphora	HP:0009926
5340	PLG	Autosomal recessive inheritance	HP:0000007
5340	PLG	Keratoconjunctivitis	HP:0001096
5340	PLG	Abnormality of the ovary	HP:0000137
5340	PLG	Infantile onset	HP:0003593
5340	PLG	Cervicitis	HP:0030160
5340	PLG	Premature loss of teeth	HP:0006480
5340	PLG	Abnormality of the gallbladder	HP:0005264
5340	PLG	Nephrolithiasis	HP:0000787
5340	PLG	Abnormality of the fallopian tube	HP:0011027
5340	PLG	Abnormality of metabolism/homeostasis	HP:0001939
5340	PLG	Recurrent otitis media	HP:0000403
5340	PLG	Gingival overgrowth	HP:0000212
5340	PLG	Recurrent bronchitis	HP:0002837
5340	PLG	Abnormality of the ear	HP:0000598
5340	PLG	Dandy-Walker malformation	HP:0001305
5340	PLG	Vaginitis	HP:0030683
5340	PLG	Duodenal ulcer	HP:0002588
5340	PLG	Papule	HP:0200034
5340	PLG	Poor wound healing	HP:0001058
5340	PLG	Gastrointestinal inflammation	HP:0004386
5340	PLG	Abnormality of the mediastinum	HP:0045026
5340	PLG	Decreased level of plasminogen	HP:0040228
5340	PLG	Recurrent upper respiratory tract infections	HP:0002788
5340	PLG	Chronic irritative conjunctivitis	HP:0007717
5340	PLG	Abnormality of the respiratory system	HP:0002086
5340	PLG	Gingivitis	HP:0000230
5340	PLG	Stomatitis	HP:0010280
5340	PLG	Cerebellar hypoplasia	HP:0001321
5340	PLG	Recurrent pharyngitis	HP:0100776
5340	PLG	Blindness	HP:0000618
5340	PLG	Hydrocephalus	HP:0000238
5340	PLG	Global developmental delay	HP:0001263
5340	PLG	Abnormality of the middle ear	HP:0000370
5340	PLG	Abnormality of the skin	HP:0000951
5340	PLG	Abnormality of vision	HP:0000504
5340	PLG	Nephritis	HP:0000123
5340	PLG	Conjunctivitis	HP:0000509
79068	FTO	Small nail	HP:0001792
79068	FTO	Bifid uvula	HP:0000193
79068	FTO	Umbilical hernia	HP:0001537
79068	FTO	Brachydactyly	HP:0001156
79068	FTO	Cutis marmorata	HP:0000965
79068	FTO	Autosomal recessive inheritance	HP:0000007
79068	FTO	Anteverted nares	HP:0000463
79068	FTO	Short neck	HP:0000470
79068	FTO	Retrognathia	HP:0000278
79068	FTO	Sensorineural hearing impairment	HP:0000407
79068	FTO	Coarse facial features	HP:0000280
79068	FTO	Dandy-Walker malformation	HP:0001305
79068	FTO	Cryptorchidism	HP:0000028
79068	FTO	Ventricular septal defect	HP:0001629
79068	FTO	Macroglossia	HP:0000158
79068	FTO	Seizures	HP:0001250
79068	FTO	Failure to thrive	HP:0001508
79068	FTO	Hypertrophic cardiomyopathy	HP:0001639
79068	FTO	Intrauterine growth retardation	HP:0001511
79068	FTO	Obesity	HP:0001513
79068	FTO	Patent ductus arteriosus	HP:0001643
79068	FTO	Hydrocephalus	HP:0000238
79068	FTO	Cleft palate	HP:0000175
79068	FTO	Global developmental delay	HP:0001263
79068	FTO	Skull asymmetry	HP:0002678
79068	FTO	Protruding tongue	HP:0010808
79068	FTO	Lissencephaly	HP:0001339
79068	FTO	Hypertonia	HP:0001276
79068	FTO	Microcephaly	HP:0000252
29920	PYCR2	Absent speech	HP:0001344
29920	PYCR2	Skeletal muscle atrophy	HP:0003202
29920	PYCR2	Hyperreflexia	HP:0001347
29920	PYCR2	Triangular face	HP:0000325
29920	PYCR2	Upslanted palpebral fissure	HP:0000582
29920	PYCR2	Autosomal recessive inheritance	HP:0000007
29920	PYCR2	Ventriculomegaly	HP:0002119
29920	PYCR2	Cerebral cortical atrophy	HP:0002120
29920	PYCR2	Vesicoureteral reflux	HP:0000076
29920	PYCR2	Arachnodactyly	HP:0001166
29920	PYCR2	Anteverted nares	HP:0000463
29920	PYCR2	Malar flattening	HP:0000272
29920	PYCR2	Sloping forehead	HP:0000340
29920	PYCR2	Narrow forehead	HP:0000341
29920	PYCR2	Pachygyria	HP:0001302
29920	PYCR2	Long philtrum	HP:0000343
29920	PYCR2	Thin upper lip vermilion	HP:0000219
29920	PYCR2	Progressive	HP:0003676
29920	PYCR2	Bulbous nose	HP:0000414
29920	PYCR2	Babinski sign	HP:0003487
29920	PYCR2	Hypoplasia of the corpus callosum	HP:0002079
29920	PYCR2	Abnormal cortical bone morphology	HP:0003103
29920	PYCR2	Seizures	HP:0001250
29920	PYCR2	Short stature	HP:0004322
29920	PYCR2	Failure to thrive	HP:0001508
29920	PYCR2	CNS hypomyelination	HP:0003429
29920	PYCR2	Hypoplasia of the frontal lobes	HP:0007333
29920	PYCR2	Muscular hypotonia of the trunk	HP:0008936
29920	PYCR2	Spasticity	HP:0001257
29920	PYCR2	Gray matter heterotopia	HP:0002282
29920	PYCR2	Inability to walk	HP:0002540
29920	PYCR2	Hearing impairment	HP:0000365
29920	PYCR2	Downslanted palpebral fissures	HP:0000494
29920	PYCR2	Global developmental delay	HP:0001263
29920	PYCR2	Leukodystrophy	HP:0002415
29920	PYCR2	Intellectual disability, severe	HP:0010864
29920	PYCR2	Low-set ears	HP:0000369
29920	PYCR2	Thick vermilion border	HP:0012471
29920	PYCR2	Unilateral renal agenesis	HP:0000122
29920	PYCR2	Agenesis of corpus callosum	HP:0001274
29920	PYCR2	Short nose	HP:0003196
29920	PYCR2	Microcephaly	HP:0000252
29920	PYCR2	Progressive microcephaly	HP:0000253
29920	PYCR2	Nystagmus	HP:0000639
29920	PYCR2	Smooth philtrum	HP:0000319
54496	PRMT7	Delayed ability to walk	HP:0031936
54496	PRMT7	Short metacarpal	HP:0010049
54496	PRMT7	Brachydactyly	HP:0001156
54496	PRMT7	Autosomal recessive inheritance	HP:0000007
54496	PRMT7	Broad nasal tip	HP:0000455
54496	PRMT7	Infantile onset	HP:0003593
54496	PRMT7	Short palpebral fissure	HP:0012745
54496	PRMT7	Generalized hypotonia	HP:0001290
54496	PRMT7	Malar flattening	HP:0000272
54496	PRMT7	Pseudohypoparathyroidism	HP:0000852
54496	PRMT7	Retrognathia	HP:0000278
54496	PRMT7	Short neck	HP:0000470
54496	PRMT7	Long philtrum	HP:0000343
54496	PRMT7	Frontal bossing	HP:0002007
54496	PRMT7	High palate	HP:0000218
54496	PRMT7	Epicanthus	HP:0000286
54496	PRMT7	Depressed nasal bridge	HP:0005280
54496	PRMT7	Delayed myelination	HP:0012448
54496	PRMT7	Intellectual disability	HP:0001249
54496	PRMT7	Short stature	HP:0004322
54496	PRMT7	Seizures	HP:0001250
54496	PRMT7	Underdeveloped supraorbital ridges	HP:0009891
54496	PRMT7	Astigmatism	HP:0000483
54496	PRMT7	Strabismus	HP:0000486
54496	PRMT7	Thin vermilion border	HP:0000233
54496	PRMT7	Obesity	HP:0001513
54496	PRMT7	Deeply set eye	HP:0000490
54496	PRMT7	Delayed speech and language development	HP:0000750
54496	PRMT7	Wide nasal bridge	HP:0000431
54496	PRMT7	Global developmental delay	HP:0001263
54496	PRMT7	Short metatarsal	HP:0010743
54496	PRMT7	Microcephaly	HP:0000252
5345	SERPINF2	Gingival bleeding	HP:0000225
5345	SERPINF2	Bruising susceptibility	HP:0000978
5345	SERPINF2	Hematuria	HP:0000790
5345	SERPINF2	Hemothorax	HP:0012151
5345	SERPINF2	Autosomal recessive inheritance	HP:0000007
5345	SERPINF2	Reduced euglobulin clot lysis time	HP:0040247
5345	SERPINF2	Intramuscular hematoma	HP:0012233
5345	SERPINF2	Intracranial hemorrhage	HP:0002170
5345	SERPINF2	Abnormal umbilical stump bleeding	HP:0011884
5345	SERPINF2	Joint hemorrhage	HP:0005261
5345	SERPINF2	Bone pain	HP:0002653
5345	SERPINF2	Persistent bleeding after trauma	HP:0001934
5346	PLIN1	Skeletal muscle hypertrophy	HP:0003712
5346	PLIN1	Lipoatrophy	HP:0100578
5346	PLIN1	Autosomal dominant inheritance	HP:0000006
5346	PLIN1	Hyperinsulinemia	HP:0000842
5346	PLIN1	Hypertriglyceridemia	HP:0002155
5346	PLIN1	Oligomenorrhea	HP:0000876
5346	PLIN1	Insulin-resistant diabetes mellitus at puberty	HP:0000877
5346	PLIN1	Reduced subcutaneous adipose tissue	HP:0003758
5346	PLIN1	Diabetes mellitus	HP:0000819
5346	PLIN1	Polycystic ovaries	HP:0000147
5346	PLIN1	Hepatic fibrosis	HP:0001395
5346	PLIN1	Loss of subcutaneous adipose tissue in limbs	HP:0003635
5346	PLIN1	Hepatic steatosis	HP:0001397
5346	PLIN1	Calf muscle hypertrophy	HP:0008981
5346	PLIN1	Infertility	HP:0000789
5346	PLIN1	Hypertension	HP:0000822
5346	PLIN1	Loss of gluteal subcutaneous adipose tissue	HP:0009017
5346	PLIN1	Acanthosis nigricans	HP:0000956
54499	TMCO1	Macrocephaly	HP:0000256
54499	TMCO1	Rib fusion	HP:0000902
54499	TMCO1	Narrow chest	HP:0000774
54499	TMCO1	Autosomal recessive inheritance	HP:0000007
54499	TMCO1	Postaxial hand polydactyly	HP:0001162
54499	TMCO1	Sparse eyelashes	HP:0000653
54499	TMCO1	Long eyelashes	HP:0000527
54499	TMCO1	Sprengel anomaly	HP:0000912
54499	TMCO1	Decreased fetal movement	HP:0001558
54499	TMCO1	Inguinal hernia	HP:0000023
54499	TMCO1	Sparse and thin eyebrow	HP:0000535
54499	TMCO1	Synophrys	HP:0000664
54499	TMCO1	Midface retrusion	HP:0011800
54499	TMCO1	Polyhydramnios	HP:0001561
54499	TMCO1	Wide mouth	HP:0000154
54499	TMCO1	Epicanthus	HP:0000286
54499	TMCO1	Hypoplasia of the corpus callosum	HP:0002079
54499	TMCO1	Coarse hair	HP:0002208
54499	TMCO1	Broad philtrum	HP:0000289
54499	TMCO1	Low anterior hairline	HP:0000294
54499	TMCO1	Neonatal hypotonia	HP:0001319
54499	TMCO1	Cerebellar vermis hypoplasia	HP:0001320
54499	TMCO1	Cleft palate	HP:0000175
54499	TMCO1	Shawl scrotum	HP:0000049
54499	TMCO1	Overlapping toe	HP:0001845
54499	TMCO1	Hernia	HP:0100790
54499	TMCO1	Growth hormone deficiency	HP:0000824
54499	TMCO1	Hypertelorism	HP:0000316
54499	TMCO1	Wide nose	HP:0000445
54499	TMCO1	Thick eyebrow	HP:0000574
54499	TMCO1	Feeding difficulties	HP:0011968
54499	TMCO1	Absent speech	HP:0001344
54499	TMCO1	Sacral dimple	HP:0000960
54499	TMCO1	Postnatal growth retardation	HP:0008897
54499	TMCO1	Upslanted palpebral fissure	HP:0000582
54499	TMCO1	Hypoplasia of the maxilla	HP:0000327
54499	TMCO1	Ventriculomegaly	HP:0002119
54499	TMCO1	Cerebral cortical atrophy	HP:0002120
54499	TMCO1	Microdontia of primary teeth	HP:0006347
54499	TMCO1	Cleft upper lip	HP:0000204
54499	TMCO1	Abnormality of the kidney	HP:0000077
54499	TMCO1	Flat face	HP:0012368
54499	TMCO1	Wide intermamillary distance	HP:0006610
54499	TMCO1	Craniosynostosis	HP:0001363
54499	TMCO1	Gingival overgrowth	HP:0000212
54499	TMCO1	Narrow forehead	HP:0000341
54499	TMCO1	Short neck	HP:0000470
54499	TMCO1	Beaking of vertebral bodies	HP:0004568
54499	TMCO1	Scoliosis	HP:0002650
54499	TMCO1	High palate	HP:0000218
54499	TMCO1	Micrognathia	HP:0000347
54499	TMCO1	Atrial septal defect	HP:0001631
54499	TMCO1	Intellectual disability	HP:0001249
54499	TMCO1	Talipes equinovarus	HP:0001762
54499	TMCO1	Short stature	HP:0004322
54499	TMCO1	Anxiety	HP:0000739
54499	TMCO1	Pes planus	HP:0001763
54499	TMCO1	Muscular hypotonia	HP:0001252
54499	TMCO1	Posteriorly rotated ears	HP:0000358
54499	TMCO1	Strabismus	HP:0000486
54499	TMCO1	Joint hypermobility	HP:0001382
54499	TMCO1	Self-mutilation	HP:0000742
54499	TMCO1	Attention deficit hyperactivity disorder	HP:0007018
54499	TMCO1	Patent ductus arteriosus	HP:0001643
54499	TMCO1	Downslanted palpebral fissures	HP:0000494
54499	TMCO1	Low-set, posteriorly rotated ears	HP:0000368
54499	TMCO1	Bull's eye maculopathy	HP:0011504
54499	TMCO1	Large for gestational age	HP:0001520
54499	TMCO1	Low-set ears	HP:0000369
54499	TMCO1	Poliosis	HP:0002290
54499	TMCO1	Low posterior hairline	HP:0002162
54499	TMCO1	Motor delay	HP:0001270
54499	TMCO1	Brachycephaly	HP:0000248
54499	TMCO1	Hemivertebrae	HP:0002937
54499	TMCO1	Highly arched eyebrow	HP:0002553
54499	TMCO1	Microcephaly	HP:0000252
54499	TMCO1	Ptosis	HP:0000508
54499	TMCO1	Short nose	HP:0003196
54499	TMCO1	Bifid ribs	HP:0000892
54499	TMCO1	Supernumerary nipple	HP:0002558
29925	GMPPB	Ragged-red muscle fibers	HP:0003200
29925	GMPPB	EMG abnormality	HP:0003457
29925	GMPPB	Meningocele	HP:0002435
29925	GMPPB	Areflexia	HP:0001284
29925	GMPPB	Facial palsy	HP:0010628
29925	GMPPB	Cataract	HP:0000518
29925	GMPPB	Autosomal recessive inheritance	HP:0000007
29925	GMPPB	Gait disturbance	HP:0001288
29925	GMPPB	Optic atrophy	HP:0000648
29925	GMPPB	Generalized hypotonia	HP:0001290
29925	GMPPB	Myopathic facies	HP:0002058
29925	GMPPB	Fatigable weakness	HP:0003473
29925	GMPPB	Hemiplegia/hemiparesis	HP:0004374
29925	GMPPB	Decreased fetal movement	HP:0001558
29925	GMPPB	Sensorineural hearing impairment	HP:0000407
29925	GMPPB	Oligohydramnios	HP:0001562
29925	GMPPB	Distal muscle weakness	HP:0002460
29925	GMPPB	Congenital muscular dystrophy	HP:0003741
29925	GMPPB	Myopia	HP:0000545
29925	GMPPB	Elevated serum creatine kinase	HP:0003236
29925	GMPPB	Proximal muscle weakness in upper limbs	HP:0008997
29925	GMPPB	Cerebellar hypoplasia	HP:0001321
29925	GMPPB	Dilatation of the ventricular cavity	HP:0006698
29925	GMPPB	Muscle weakness	HP:0001324
29925	GMPPB	Respiratory insufficiency	HP:0002093
29925	GMPPB	Cleft palate	HP:0000175
29925	GMPPB	EEG abnormality	HP:0002353
29925	GMPPB	Difficulty walking	HP:0002355
29925	GMPPB	Frequent falls	HP:0002359
29925	GMPPB	Easy fatigability	HP:0003388
29925	GMPPB	Cognitive impairment	HP:0100543
29925	GMPPB	Gowers sign	HP:0003391
29925	GMPPB	Aplasia/Hypoplasia of the cerebellum	HP:0007360
29925	GMPPB	Absent speech	HP:0001344
29925	GMPPB	Feeding difficulties	HP:0011968
29925	GMPPB	Muscle spasm	HP:0003394
29925	GMPPB	Generalized weakness of limb muscles	HP:0009028
29925	GMPPB	Abnormality of the voice	HP:0001608
29925	GMPPB	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
29925	GMPPB	Muscle fiber tubular inclusions	HP:0100301
29925	GMPPB	Hypoplasia of the pons	HP:0012110
29925	GMPPB	Holoprosencephaly	HP:0001360
29925	GMPPB	Neck muscle weakness	HP:0000467
29925	GMPPB	Waddling gait	HP:0002515
29925	GMPPB	Difficulty running	HP:0009046
29925	GMPPB	Exercise intolerance	HP:0003546
29925	GMPPB	High palate	HP:0000218
29925	GMPPB	Scoliosis	HP:0002650
29925	GMPPB	Flexion contracture	HP:0001371
29925	GMPPB	Type 1 muscle fiber predominance	HP:0003803
29925	GMPPB	Distal lower limb muscle weakness	HP:0009053
29925	GMPPB	Hypoglycosylation of alpha-dystroglycan	HP:0030046
29925	GMPPB	Difficulty climbing stairs	HP:0003551
29925	GMPPB	Generalized limb muscle atrophy	HP:0009055
29925	GMPPB	Intellectual disability	HP:0001249
29925	GMPPB	Seizures	HP:0001250
29925	GMPPB	Ataxia	HP:0001251
29925	GMPPB	Pes planus	HP:0001763
29925	GMPPB	Muscular hypotonia	HP:0001252
29925	GMPPB	Cardiomyopathy	HP:0001638
29925	GMPPB	Strabismus	HP:0000486
29925	GMPPB	Intellectual disability, mild	HP:0001256
29925	GMPPB	Muscular dystrophy	HP:0003560
29925	GMPPB	Scapular winging	HP:0003691
29925	GMPPB	Inability to walk	HP:0002540
29925	GMPPB	Knee flexion contracture	HP:0006380
29925	GMPPB	Joint laxity	HP:0001388
29925	GMPPB	Hydrocephalus	HP:0000238
29925	GMPPB	Global developmental delay	HP:0001263
29925	GMPPB	Fatigable weakness of bulbar muscles	HP:0030192
29925	GMPPB	Intellectual disability, severe	HP:0010864
29925	GMPPB	Variable expressivity	HP:0003828
29925	GMPPB	Proximal muscle weakness	HP:0003701
29925	GMPPB	Glaucoma	HP:0000501
29925	GMPPB	Poor head control	HP:0002421
29925	GMPPB	Motor delay	HP:0001270
29925	GMPPB	Neurological speech impairment	HP:0002167
29925	GMPPB	Visual impairment	HP:0000505
29925	GMPPB	Prolonged QT interval	HP:0001657
29925	GMPPB	Congenital onset	HP:0003577
29925	GMPPB	Lumbar hyperlordosis	HP:0002938
29925	GMPPB	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0030202
29925	GMPPB	Microcephaly	HP:0000252
29925	GMPPB	Hypertonia	HP:0001276
29925	GMPPB	Ptosis	HP:0000508
29925	GMPPB	Increased jitter at single fibre EMG	HP:0030205
29925	GMPPB	Limb-girdle muscle weakness	HP:0003325
29925	GMPPB	Myopathy	HP:0003198
29925	GMPPB	Nystagmus	HP:0000639
29925	GMPPB	Axial muscle weakness	HP:0003327
29925	GMPPB	Distal upper limb muscle weakness	HP:0008959
5350	PLN	EMG abnormality	HP:0003457
5350	PLN	Lipoatrophy	HP:0100578
5350	PLN	Congestive heart failure	HP:0001635
5350	PLN	Elevated serum creatine kinase	HP:0003236
5350	PLN	Autosomal dominant inheritance	HP:0000006
5350	PLN	Cardiomyopathy	HP:0001638
5350	PLN	Dilated cardiomyopathy	HP:0001644
5350	PLN	Chest pain	HP:0100749
5350	PLN	Left ventricular hypertrophy	HP:0001712
5350	PLN	Reduced systolic function	HP:0006673
5350	PLN	Abnormality of neutrophils	HP:0001874
5350	PLN	Ventricular arrhythmia	HP:0004308
5350	PLN	Palmoplantar keratoderma	HP:0000982
5350	PLN	Atrial fibrillation	HP:0005110
5350	PLN	Sensorineural hearing impairment	HP:0000407
5350	PLN	Myopathy	HP:0003198
29926	GMPPA	Feeding difficulties	HP:0011968
29926	GMPPA	Hyperkeratosis	HP:0000962
29926	GMPPA	Hyperreflexia	HP:0001347
29926	GMPPA	Plantar hyperkeratosis	HP:0007556
29926	GMPPA	Hypohidrosis	HP:0000966
29926	GMPPA	Autosomal recessive inheritance	HP:0000007
29926	GMPPA	Gait disturbance	HP:0001288
29926	GMPPA	Developmental regression	HP:0002376
29926	GMPPA	Optic atrophy	HP:0000648
29926	GMPPA	Alacrima	HP:0000522
29926	GMPPA	Generalized hypotonia	HP:0001290
29926	GMPPA	Achalasia	HP:0002571
29926	GMPPA	Nasal speech	HP:0001611
29926	GMPPA	Adrenal insufficiency	HP:0000846
29926	GMPPA	Generalized hyperpigmentation	HP:0007440
29926	GMPPA	Sensory impairment	HP:0003474
29926	GMPPA	Palmoplantar keratoderma	HP:0000982
29926	GMPPA	Abnormality of the calf musculature	HP:0001430
29926	GMPPA	Sensorineural hearing impairment	HP:0000407
29926	GMPPA	Motor axonal neuropathy	HP:0007002
29926	GMPPA	Dysphagia	HP:0002015
29926	GMPPA	Intellectual disability	HP:0001249
29926	GMPPA	Pes cavus	HP:0001761
29926	GMPPA	Seizures	HP:0001250
29926	GMPPA	Short stature	HP:0004322
29926	GMPPA	Ataxia	HP:0001251
29926	GMPPA	Muscular hypotonia	HP:0001252
29926	GMPPA	Iris coloboma	HP:0000612
29926	GMPPA	Strabismus	HP:0000486
29926	GMPPA	Hearing impairment	HP:0000365
29926	GMPPA	Respiratory insufficiency	HP:0002093
29926	GMPPA	Global developmental delay	HP:0001263
29926	GMPPA	Abnormality of the hypothenar eminence	HP:0010486
29926	GMPPA	Visual impairment	HP:0000505
29926	GMPPA	Anisocoria	HP:0009916
29926	GMPPA	Microcephaly	HP:0000252
29926	GMPPA	Orthostatic hypotension	HP:0001278
29926	GMPPA	Anterior hypopituitarism	HP:0000830
29926	GMPPA	Nystagmus	HP:0000639
29927	SEC61A1	Focal segmental glomerulosclerosis	HP:0000097
29927	SEC61A1	Short stature	HP:0004322
29927	SEC61A1	Hyperuricemia	HP:0002149
29927	SEC61A1	Autosomal dominant inheritance	HP:0000006
29927	SEC61A1	Intrauterine growth retardation	HP:0001511
29927	SEC61A1	Renal cyst	HP:0000107
29927	SEC61A1	Gout	HP:0001997
29927	SEC61A1	Chronic kidney disease	HP:0012622
29927	SEC61A1	Anemia	HP:0001903
29927	SEC61A1	Nephropathy	HP:0000112
29927	SEC61A1	Neutropenia	HP:0001875
29927	SEC61A1	Dilatation	HP:0002617
29927	SEC61A1	Progressive	HP:0003676
29927	SEC61A1	Cognitive impairment	HP:0100543
29927	SEC61A1	Recurrent infections	HP:0002719
5351	PLOD1	Recurrent pneumonia	HP:0006532
5351	PLOD1	Autosomal recessive inheritance	HP:0000007
5351	PLOD1	Gait disturbance	HP:0001288
5351	PLOD1	Progressive congenital scoliosis	HP:0008458
5351	PLOD1	Generalized hypotonia	HP:0001290
5351	PLOD1	Subcutaneous hemorrhage	HP:0001933
5351	PLOD1	Arachnodactyly	HP:0001166
5351	PLOD1	Bladder diverticulum	HP:0000015
5351	PLOD1	Abnormality of metabolism/homeostasis	HP:0001939
5351	PLOD1	Decreased fetal movement	HP:0001558
5351	PLOD1	Inguinal hernia	HP:0000023
5351	PLOD1	Retinal detachment	HP:0000541
5351	PLOD1	Epicanthus	HP:0000286
5351	PLOD1	Depressed nasal bridge	HP:0005280
5351	PLOD1	Myopia	HP:0000545
5351	PLOD1	Dental crowding	HP:0000678
5351	PLOD1	Neonatal hypotonia	HP:0001319
5351	PLOD1	Osteoporosis	HP:0000939
5351	PLOD1	Respiratory insufficiency	HP:0002093
5351	PLOD1	Arterial dissection	HP:0005294
5351	PLOD1	Keratoconus	HP:0000563
5351	PLOD1	Arterial rupture	HP:0025019
5351	PLOD1	Joint hyperflexibility	HP:0005692
5351	PLOD1	Gastrointestinal hemorrhage	HP:0002239
5351	PLOD1	Decreased pulmonary function	HP:0005952
5351	PLOD1	Thin skin	HP:0000963
5351	PLOD1	Abnormality of the hip bone	HP:0003272
5351	PLOD1	Generalized joint laxity	HP:0002761
5351	PLOD1	Hyperextensible skin	HP:0000974
5351	PLOD1	Blue sclerae	HP:0000592
5351	PLOD1	Soft skin	HP:0000977
5351	PLOD1	Bruising susceptibility	HP:0000978
5351	PLOD1	Aortic dissection	HP:0002647
5351	PLOD1	Scoliosis	HP:0002650
5351	PLOD1	Atypical scarring of skin	HP:0000987
5351	PLOD1	Palmoplantar cutis laxa	HP:0007517
5351	PLOD1	Joint dislocation	HP:0001373
5351	PLOD1	Molluscoid pseudotumors	HP:0000993
5351	PLOD1	Microcornea	HP:0000482
5351	PLOD1	Mitral valve prolapse	HP:0001634
5351	PLOD1	Talipes equinovarus	HP:0001762
5351	PLOD1	Tall stature	HP:0000098
5351	PLOD1	Pes planus	HP:0001763
5351	PLOD1	Congestive heart failure	HP:0001635
5351	PLOD1	Muscular hypotonia	HP:0001252
5351	PLOD1	Spontaneous rupture of the globe	HP:0010727
5351	PLOD1	Retinopathy	HP:0000488
5351	PLOD1	Blindness	HP:0000618
5351	PLOD1	Corneal dystrophy	HP:0001131
5351	PLOD1	Joint laxity	HP:0001388
5351	PLOD1	Disproportionate tall stature	HP:0001519
5351	PLOD1	Glaucoma	HP:0000501
5351	PLOD1	Motor delay	HP:0001270
5351	PLOD1	Kyphosis	HP:0002808
5351	PLOD1	Visual impairment	HP:0000505
5351	PLOD1	Premature rupture of membranes	HP:0001788
5352	PLOD2	Pectus carinatum	HP:0000768
5352	PLOD2	Short stature	HP:0004322
5352	PLOD2	Talipes equinovarus	HP:0001762
5352	PLOD2	Pterygium	HP:0001059
5352	PLOD2	Increased susceptibility to fractures	HP:0002659
5352	PLOD2	Femoral bowing	HP:0002980
5352	PLOD2	Recurrent fractures	HP:0002757
5352	PLOD2	Triangular face	HP:0000325
5352	PLOD2	Autosomal recessive inheritance	HP:0000007
5352	PLOD2	Hydroxyprolinuria	HP:0003080
5352	PLOD2	Osteopenia	HP:0000938
5352	PLOD2	Osteoporosis	HP:0000939
5352	PLOD2	Joint stiffness	HP:0001387
5352	PLOD2	Elbow flexion contracture	HP:0002987
5352	PLOD2	Knee flexion contracture	HP:0006380
5352	PLOD2	Respiratory insufficiency	HP:0002093
5352	PLOD2	Arthrogryposis multiplex congenita	HP:0002804
5352	PLOD2	Wormian bones	HP:0002645
5352	PLOD2	Bowing of the long bones	HP:0006487
5352	PLOD2	Inguinal hernia	HP:0000023
5352	PLOD2	Kyphosis	HP:0002808
5352	PLOD2	Scoliosis	HP:0002650
5352	PLOD2	Flexion contracture	HP:0001371
5352	PLOD2	Platyspondyly	HP:0000926
29929	ALG6	Seizures	HP:0001250
29929	ALG6	Ataxia	HP:0001251
29929	ALG6	Areflexia	HP:0001284
29929	ALG6	Muscular hypotonia	HP:0001252
29929	ALG6	Strabismus	HP:0000486
29929	ALG6	Autosomal recessive inheritance	HP:0000007
29929	ALG6	Muscular hypotonia of the trunk	HP:0008936
29929	ALG6	Reduced factor XI activity	HP:0001929
29929	ALG6	Psychomotor retardation	HP:0025356
29929	ALG6	Global developmental delay	HP:0001263
29929	ALG6	Elevated serum transaminases during infections	HP:0008150
29929	ALG6	Hepatic failure	HP:0001399
29929	ALG6	Reduced antithrombin III activity	HP:0001976
29929	ALG6	Type I transferrin isoform profile	HP:0003642
79083	MLPH	Heterogeneous	HP:0001425
79083	MLPH	Iris hypopigmentation	HP:0007730
79083	MLPH	White eyelashes	HP:0002227
79083	MLPH	Partial albinism	HP:0007443
79083	MLPH	Autosomal recessive inheritance	HP:0000007
79083	MLPH	Silver-gray hair	HP:0002218
79083	MLPH	Large clumps of pigment irregularly distributed along hair shaft	HP:0004527
79083	MLPH	Hypopigmentation of hair	HP:0005599
5354	PLP1	Skeletal muscle atrophy	HP:0003202
5354	PLP1	Optic atrophy	HP:0000648
5354	PLP1	Infantile onset	HP:0003593
5354	PLP1	Spastic paraparesis	HP:0002313
5354	PLP1	Generalized hypotonia	HP:0001290
5354	PLP1	Degeneration of the lateral corticospinal tracts	HP:0002314
5354	PLP1	X-linked recessive inheritance	HP:0001419
5354	PLP1	Lower limb spasticity	HP:0002061
5354	PLP1	Spastic gait	HP:0002064
5354	PLP1	Congenital laryngeal stridor	HP:0004886
5354	PLP1	Abnormality of extrapyramidal motor function	HP:0002071
5354	PLP1	Pulmonary embolism	HP:0002204
5354	PLP1	Recurrent respiratory infections	HP:0002205
5354	PLP1	Dysmetria	HP:0001310
5354	PLP1	Babinski sign	HP:0003487
5354	PLP1	Abnormal cerebellum morphology	HP:0001317
5354	PLP1	Juvenile onset	HP:0003621
5354	PLP1	Head titubation	HP:0002599
5354	PLP1	Lower limb muscle weakness	HP:0007340
5354	PLP1	Muscle weakness	HP:0001324
5354	PLP1	Progressive spastic quadriplegia	HP:0002478
5354	PLP1	Rotary nystagmus	HP:0001583
5354	PLP1	Bowel incontinence	HP:0002607
5354	PLP1	Dystonia	HP:0001332
5354	PLP1	Tremor	HP:0001337
5354	PLP1	Psychomotor deterioration	HP:0002361
5354	PLP1	Hyperreflexia	HP:0001347
5354	PLP1	Sudanophilic leukodystrophy	HP:0003269
5354	PLP1	Spinocerebellar tract degeneration	HP:0002503
5354	PLP1	Abnormal pyramidal sign	HP:0007256
5354	PLP1	Flexion contracture	HP:0001371
5354	PLP1	Spastic/hyperactive bladder	HP:0005340
5354	PLP1	Slow progression	HP:0003677
5354	PLP1	Dysphagia	HP:0002015
5354	PLP1	Limitation of joint mobility	HP:0001376
5354	PLP1	Intellectual disability	HP:0001249
5354	PLP1	Pes cavus	HP:0001761
5354	PLP1	Cerebral dysmyelination	HP:0007266
5354	PLP1	Short stature	HP:0004322
5354	PLP1	Seizures	HP:0001250
5354	PLP1	Ataxia	HP:0001251
5354	PLP1	Reduction of oligodendroglia	HP:0100709
5354	PLP1	Muscular hypotonia	HP:0001252
5354	PLP1	Failure to thrive	HP:0001508
5354	PLP1	Spastic paraplegia	HP:0001258
5354	PLP1	Dysarthria	HP:0001260
5354	PLP1	Hearing impairment	HP:0000365
5354	PLP1	Delayed speech and language development	HP:0000750
5354	PLP1	Global developmental delay	HP:0001263
5354	PLP1	Hyporeflexia	HP:0001265
5354	PLP1	Choreoathetosis	HP:0001266
5354	PLP1	Scanning speech	HP:0002168
5354	PLP1	Sensory neuropathy	HP:0000763
5354	PLP1	Microcephaly	HP:0000252
5354	PLP1	Nystagmus	HP:0000639
54507	ADAMTSL4	Cataract	HP:0000518
54507	ADAMTSL4	Amblyopia	HP:0000646
54507	ADAMTSL4	Autosomal recessive inheritance	HP:0000007
54507	ADAMTSL4	Joint stiffness	HP:0001387
54507	ADAMTSL4	Mandibular prognathia	HP:0000303
54507	ADAMTSL4	Malar flattening	HP:0000272
54507	ADAMTSL4	Hypertension	HP:0000822
54507	ADAMTSL4	Ectopia lentis	HP:0001083
54507	ADAMTSL4	High myopia	HP:0011003
54507	ADAMTSL4	Retinal detachment	HP:0000541
54507	ADAMTSL4	Persistent pupillary membrane	HP:0009917
54507	ADAMTSL4	Cognitive impairment	HP:0100543
54507	ADAMTSL4	Ectopia pupillae	HP:0009918
54507	ADAMTSL4	Nystagmus	HP:0000639
79087	ALG12	Feeding difficulties	HP:0011968
79087	ALG12	Short philtrum	HP:0000322
79087	ALG12	Rhizomelia	HP:0008905
79087	ALG12	Generalized hypotonia	HP:0001290
79087	ALG12	Psychomotor retardation	HP:0025356
79087	ALG12	Abnormality of the genital system	HP:0000078
79087	ALG12	Abnormal facial shape	HP:0001999
79087	ALG12	Hypocalcemia	HP:0002901
79087	ALG12	Sensorineural hearing impairment	HP:0000407
79087	ALG12	Midface retrusion	HP:0011800
79087	ALG12	Short femur	HP:0003097
79087	ALG12	Decreased antibody level in blood	HP:0004313
79087	ALG12	Recurrent respiratory infections	HP:0002205
79087	ALG12	Short humerus	HP:0005792
79087	ALG12	Talipes equinovarus	HP:0001762
79087	ALG12	Abnormality of immune system physiology	HP:0010978
79087	ALG12	Failure to thrive	HP:0001508
79087	ALG12	Muscular hypotonia	HP:0001252
79087	ALG12	Short tibia	HP:0005736
79087	ALG12	Hypoplasia of the radius	HP:0002984
79087	ALG12	Respiratory tract infection	HP:0011947
79087	ALG12	Scrotal hypoplasia	HP:0000046
79087	ALG12	Global developmental delay	HP:0001263
79087	ALG12	Hypospadias	HP:0000047
79087	ALG12	Butterfly vertebrae	HP:0003316
79087	ALG12	Micropenis	HP:0000054
79087	ALG12	Abnormality of the pinna	HP:0000377
79087	ALG12	Sandal gap	HP:0001852
79087	ALG12	Prolonged partial thromboplastin time	HP:0003645
79087	ALG12	Progressive microcephaly	HP:0000253
79087	ALG12	Cognitive impairment	HP:0100543
5358	PLS3	Vertebral compression fractures	HP:0002953
5358	PLS3	Osteopenia	HP:0000938
5358	PLS3	Osteoporosis	HP:0000939
5358	PLS3	X-linked dominant inheritance	HP:0001423
128240	NAXE	Tetraparesis	HP:0002273
128240	NAXE	Seizures	HP:0001250
128240	NAXE	Cerebellar edema	HP:0030915
128240	NAXE	Ataxia	HP:0001251
128240	NAXE	Cerebral edema	HP:0002181
128240	NAXE	Strabismus	HP:0000486
128240	NAXE	Increased serum lactate	HP:0002151
128240	NAXE	Autosomal recessive inheritance	HP:0000007
128240	NAXE	Developmental regression	HP:0002376
128240	NAXE	Skin erosion	HP:0200041
128240	NAXE	Generalized hypotonia	HP:0001290
128240	NAXE	Coma	HP:0001259
128240	NAXE	Leukoencephalopathy	HP:0002352
128240	NAXE	Death in infancy	HP:0001522
128240	NAXE	Encephalopathy	HP:0001298
128240	NAXE	Myelopathy	HP:0002196
128240	NAXE	Lactic acidosis	HP:0003128
128240	NAXE	Tremor	HP:0001337
128240	NAXE	Increased CSF lactate	HP:0002490
128240	NAXE	Brain atrophy	HP:0012444
128240	NAXE	Rapidly progressive	HP:0003678
128240	NAXE	Nystagmus	HP:0000639
152816	ODAPH	Amelogenesis imperfecta	HP:0000705
152816	ODAPH	Autosomal recessive inheritance	HP:0000007
152816	ODAPH	Hypoplasia of dental enamel	HP:0006297
152816	ODAPH	Hypomineralization of enamel	HP:0006285
29940	DSE	Autosomal recessive inheritance	HP:0000007
29940	DSE	Cerebral atrophy	HP:0002059
29940	DSE	Arthralgia	HP:0002829
29940	DSE	Arachnodactyly	HP:0001166
29940	DSE	Blue sclerae	HP:0000592
29940	DSE	Delayed gross motor development	HP:0002194
29940	DSE	Long philtrum	HP:0000343
29940	DSE	Frontal bossing	HP:0002007
29940	DSE	Inguinal hernia	HP:0000023
29940	DSE	Midface retrusion	HP:0011800
29940	DSE	High palate	HP:0000218
29940	DSE	Protruding ear	HP:0000411
29940	DSE	Adducted thumb	HP:0001181
29940	DSE	Narrow mouth	HP:0000160
29940	DSE	Camptodactyly	HP:0012385
29940	DSE	Mitral valve prolapse	HP:0001634
29940	DSE	Talipes equinovarus	HP:0001762
29940	DSE	Dental crowding	HP:0000678
29940	DSE	Facial hypotonia	HP:0000297
29940	DSE	Downslanted palpebral fissures	HP:0000494
29940	DSE	Mitral regurgitation	HP:0001653
29940	DSE	Patent foramen ovale	HP:0001655
29940	DSE	Brachycephaly	HP:0000248
29940	DSE	Telecanthus	HP:0000506
29940	DSE	Generalized muscle weakness	HP:0003324
29940	DSE	Hypertelorism	HP:0000316
29940	DSE	Myalgia	HP:0003326
79092	CARD14	Ichthyosis	HP:0008064
79092	CARD14	Papule	HP:0200034
79092	CARD14	Hyperkeratosis	HP:0000962
79092	CARD14	Orthokeratosis	HP:0040162
79092	CARD14	Abnormal oral cavity morphology	HP:0000163
79092	CARD14	Epidermal acanthosis	HP:0025092
79092	CARD14	Eczema	HP:0000964
79092	CARD14	Pustule	HP:0200039
79092	CARD14	Autosomal dominant inheritance	HP:0000006
79092	CARD14	Subungual hyperkeratosis	HP:0008392
79092	CARD14	Neoplasm	HP:0002664
79092	CARD14	Irregular hyperpigmentation	HP:0007400
79092	CARD14	Parakeratosis	HP:0001036
79092	CARD14	Ectropion	HP:0000656
79092	CARD14	Lichenification	HP:0100725
79092	CARD14	Psoriasiform dermatitis	HP:0003765
79092	CARD14	Palmoplantar keratoderma	HP:0000982
79092	CARD14	Hypergranulosis	HP:0025114
79092	CARD14	Erythroderma	HP:0001019
79092	CARD14	Scaling skin	HP:0040189
79092	CARD14	Pruritus	HP:0000989
201973	PRIMPOL	Myopia	HP:0000545
201973	PRIMPOL	Autosomal dominant inheritance	HP:0000006
201973	PRIMPOL	Reduced visual acuity	HP:0007663
5373	PMM2	Abnormal subcutaneous fat tissue distribution	HP:0007552
5373	PMM2	Hypoalbuminemia	HP:0003073
5373	PMM2	Autosomal recessive inheritance	HP:0000007
5373	PMM2	Reduced factor XI activity	HP:0001929
5373	PMM2	Generalized hypotonia	HP:0001290
5373	PMM2	Psychomotor retardation	HP:0025356
5373	PMM2	Macrotia	HP:0000400
5373	PMM2	Premature ovarian insufficiency	HP:0008209
5373	PMM2	Abnormality of the amniotic fluid	HP:0001560
5373	PMM2	Depressed nasal bridge	HP:0005280
5373	PMM2	Decreased circulating IgA level	HP:0002720
5373	PMM2	Pericardial effusion	HP:0001698
5373	PMM2	Feeding difficulties in infancy	HP:0008872
5373	PMM2	Osteopenia	HP:0000938
5373	PMM2	Olivopontocerebellar hypoplasia	HP:0006955
5373	PMM2	Muscle weakness	HP:0001324
5373	PMM2	Hypergonadotropic hypogonadism	HP:0000815
5373	PMM2	Esotropia	HP:0000565
5373	PMM2	Hypothyroidism	HP:0000821
5373	PMM2	Reduced antithrombin III activity	HP:0001976
5373	PMM2	Type I transferrin isoform profile	HP:0003642
5373	PMM2	Prolonged partial thromboplastin time	HP:0003645
5373	PMM2	Hepatomegaly	HP:0002240
5373	PMM2	Hypocholesterolemia	HP:0003146
5373	PMM2	Prominent forehead	HP:0011220
5373	PMM2	Prolonged prothrombin time	HP:0008151
5373	PMM2	Thin upper lip vermilion	HP:0000219
5373	PMM2	Flexion contracture	HP:0001371
5373	PMM2	Decreased circulating IgG level	HP:0004315
5373	PMM2	Proteinuria	HP:0000093
5373	PMM2	Vomiting	HP:0002013
5373	PMM2	Elevated hepatic transaminase	HP:0002910
5373	PMM2	Diarrhea	HP:0002014
5373	PMM2	Stroke-like episode	HP:0002401
5373	PMM2	Seizures	HP:0001250
5373	PMM2	Ataxia	HP:0001251
5373	PMM2	Failure to thrive	HP:0001508
5373	PMM2	Muscular hypotonia	HP:0001252
5373	PMM2	Nephrotic syndrome	HP:0000100
5373	PMM2	Thrombocytosis	HP:0001894
5373	PMM2	Cardiomyopathy	HP:0001638
5373	PMM2	Renal cyst	HP:0000107
5373	PMM2	Global developmental delay	HP:0001263
5373	PMM2	Hyporeflexia	HP:0001265
5373	PMM2	Inverted nipples	HP:0003186
5373	PMM2	Proximal tubulopathy	HP:0000114
5373	PMM2	Hepatic fibrosis	HP:0001395
5373	PMM2	Hepatic steatosis	HP:0001397
5373	PMM2	Polyneuropathy	HP:0001271
5373	PMM2	Kyphosis	HP:0002808
5373	PMM2	Microcephaly	HP:0000252
5373	PMM2	Rod-cone dystrophy	HP:0000510
5373	PMM2	Nonimmune hydrops fetalis	HP:0001790
5373	PMM2	Nystagmus	HP:0000639
5375	PMP2	Steppage gait	HP:0003376
5375	PMP2	Pes cavus	HP:0001761
5375	PMP2	Difficulty walking	HP:0002355
5375	PMP2	Onion bulb formation	HP:0003383
5375	PMP2	Frequent falls	HP:0002359
5375	PMP2	Slow progression	HP:0003677
5376	PMP22	Skeletal muscle atrophy	HP:0003202
5376	PMP22	Drooling	HP:0002307
5376	PMP22	Insidious onset	HP:0003587
5376	PMP22	Areflexia	HP:0001284
5376	PMP22	Autosomal dominant inheritance	HP:0000006
5376	PMP22	Autosomal recessive inheritance	HP:0000007
5376	PMP22	Gait disturbance	HP:0001288
5376	PMP22	Infantile onset	HP:0003593
5376	PMP22	Generalized hypotonia	HP:0001290
5376	PMP22	Unsteady gait	HP:0002317
5376	PMP22	Hyperactive deep tendon reflexes	HP:0006801
5376	PMP22	Heterogeneous	HP:0001425
5376	PMP22	Gait ataxia	HP:0002066
5376	PMP22	Split hand	HP:0001171
5376	PMP22	Calf muscle hypertrophy	HP:0008981
5376	PMP22	Sensorineural hearing impairment	HP:0000407
5376	PMP22	Diaphragmatic weakness	HP:0009113
5376	PMP22	Segmental peripheral demyelination/remyelination	HP:0003481
5376	PMP22	Ulnar claw	HP:0001178
5376	PMP22	Abnormality of the immune system	HP:0002715
5376	PMP22	Distal muscle weakness	HP:0002460
5376	PMP22	Recurrent fever	HP:0001954
5376	PMP22	Juvenile onset	HP:0003621
5376	PMP22	Cranial nerve paralysis	HP:0006824
5376	PMP22	Muscle weakness	HP:0001324
5376	PMP22	Respiratory insufficiency	HP:0002093
5376	PMP22	Steppage gait	HP:0003376
5376	PMP22	Decreased number of peripheral myelinated nerve fibers	HP:0003380
5376	PMP22	Hypertrophic nerve changes	HP:0003382
5376	PMP22	Onion bulb formation	HP:0003383
5376	PMP22	Upper limb postural tremor	HP:0007351
5376	PMP22	Impaired oropharyngeal swallow response	HP:0031162
5376	PMP22	Kyphoscoliosis	HP:0002751
5376	PMP22	Foot dorsiflexor weakness	HP:0009027
5376	PMP22	Vocal cord paralysis	HP:0001605
5376	PMP22	Childhood onset	HP:0011463
5376	PMP22	Paresthesia	HP:0003401
5376	PMP22	Spontaneous pain sensation	HP:0010833
5376	PMP22	Sleepy facial expression	HP:0005335
5376	PMP22	Scoliosis	HP:0002650
5376	PMP22	Acute demyelinating polyneuropathy	HP:0007131
5376	PMP22	Talipes calcaneovalgus	HP:0001884
5376	PMP22	Gait imbalance	HP:0002141
5376	PMP22	Distal lower limb muscle weakness	HP:0009053
5376	PMP22	Slow progression	HP:0003677
5376	PMP22	Pes cavus	HP:0001761
5376	PMP22	Muscular hypotonia	HP:0001252
5376	PMP22	Hammertoe	HP:0001765
5376	PMP22	Peripheral neuropathy	HP:0009830
5376	PMP22	Decreased motor nerve conduction velocity	HP:0003431
5376	PMP22	Limb muscle weakness	HP:0003690
5376	PMP22	Increased CSF protein	HP:0002922
5376	PMP22	Distal amyotrophy	HP:0003693
5376	PMP22	Hearing impairment	HP:0000365
5376	PMP22	Myelin outfoldings	HP:0004336
5376	PMP22	Hyporeflexia	HP:0001265
5376	PMP22	Shoulder pain	HP:0030834
5376	PMP22	Variable expressivity	HP:0003828
5376	PMP22	EMG: neuropathic changes	HP:0003445
5376	PMP22	Dysesthesia	HP:0012534
5376	PMP22	Motor delay	HP:0001270
5376	PMP22	Sensory ataxia	HP:0010871
5376	PMP22	Distal sensory impairment	HP:0002936
5376	PMP22	Decreased sensory nerve conduction velocity	HP:0003448
5376	PMP22	Cold-induced muscle cramps	HP:0003449
5376	PMP22	Nystagmus	HP:0000639
29954	POMT2	Macrocephaly	HP:0000256
29954	POMT2	Areflexia	HP:0001284
29954	POMT2	Cataract	HP:0000518
29954	POMT2	Autosomal recessive inheritance	HP:0000007
29954	POMT2	Gait disturbance	HP:0001288
29954	POMT2	Infantile onset	HP:0003593
29954	POMT2	Generalized hypotonia	HP:0001290
29954	POMT2	Hip dislocation	HP:0002827
29954	POMT2	Metatarsus valgus	HP:0010508
29954	POMT2	Anophthalmia	HP:0000528
29954	POMT2	Corneal opacity	HP:0007957
29954	POMT2	Hemiplegia/hemiparesis	HP:0004374
29954	POMT2	Pachygyria	HP:0001302
29954	POMT2	Dandy-Walker malformation	HP:0001305
29954	POMT2	Hypermetropia	HP:0000540
29954	POMT2	Cryptorchidism	HP:0000028
29954	POMT2	Retinal detachment	HP:0000541
29954	POMT2	Hypoplasia of the corpus callosum	HP:0002079
29954	POMT2	Hypoplasia of penis	HP:0008736
29954	POMT2	Myopia	HP:0000545
29954	POMT2	Encephalocele	HP:0002084
29954	POMT2	Occipital encephalocele	HP:0002085
29954	POMT2	Retinal dysplasia	HP:0007973
29954	POMT2	Cerebellar hypoplasia	HP:0001321
29954	POMT2	Retinal dystrophy	HP:0000556
29954	POMT2	Muscle weakness	HP:0001324
29954	POMT2	Buphthalmos	HP:0000557
29954	POMT2	Respiratory insufficiency	HP:0002093
29954	POMT2	Cerebellar cyst	HP:0002350
29954	POMT2	Specific learning disability	HP:0001328
29954	POMT2	EEG abnormality	HP:0002353
29954	POMT2	Hypoplastic male external genitalia	HP:0000050
29954	POMT2	Absent septum pellucidum	HP:0001331
29954	POMT2	Chorioretinal dysplasia	HP:0007731
29954	POMT2	Micropenis	HP:0000054
29954	POMT2	Microphthalmia	HP:0000568
29954	POMT2	Macrogyria	HP:0007227
29954	POMT2	Hypoplasia of the brainstem	HP:0002365
29954	POMT2	Pigmentary retinopathy	HP:0000580
29954	POMT2	Ventriculomegaly	HP:0002119
29954	POMT2	Abnormality of the voice	HP:0001608
29954	POMT2	Cerebral cortical atrophy	HP:0002120
29954	POMT2	Coloboma	HP:0000589
29954	POMT2	Polymicrogyria	HP:0002126
29954	POMT2	Holoprosencephaly	HP:0001360
29954	POMT2	Retinal atrophy	HP:0001105
29954	POMT2	Left ventricular systolic dysfunction	HP:0025169
29954	POMT2	Scoliosis	HP:0002650
29954	POMT2	Flexion contracture	HP:0001371
29954	POMT2	Type II lissencephaly	HP:0007260
29954	POMT2	Optic nerve hypoplasia	HP:0000609
29954	POMT2	Iris coloboma	HP:0000612
29954	POMT2	Posteriorly rotated ears	HP:0000358
29954	POMT2	Microtia	HP:0008551
29954	POMT2	Blindness	HP:0000618
29954	POMT2	Renal dysplasia	HP:0000110
29954	POMT2	Intellectual disability, severe	HP:0010864
29954	POMT2	Abnormal aldolase level	HP:0012400
29954	POMT2	Low-set ears	HP:0000369
29954	POMT2	Proximal muscle weakness	HP:0003701
29954	POMT2	Neurological speech impairment	HP:0002167
29954	POMT2	Cerebellar dysplasia	HP:0007033
29954	POMT2	Posterior fossa cyst	HP:0007291
29954	POMT2	Myopathy	HP:0003198
29954	POMT2	Skeletal muscle hypertrophy	HP:0003712
29954	POMT2	EMG abnormality	HP:0003457
29954	POMT2	Skeletal muscle atrophy	HP:0003202
29954	POMT2	Meningocele	HP:0002435
29954	POMT2	Facial palsy	HP:0010628
29954	POMT2	Optic atrophy	HP:0000648
29954	POMT2	Agyria	HP:0031882
29954	POMT2	Intellectual disability, profound	HP:0002187
29954	POMT2	Excessive daytime sleepiness	HP:0002189
29954	POMT2	Heterogeneous	HP:0001425
29954	POMT2	Abnormal circulating creatine kinase concentration	HP:0040081
29954	POMT2	Peters anomaly	HP:0000659
29954	POMT2	Protruding ear	HP:0000411
29954	POMT2	Atresia of the external auditory canal	HP:0000413
29954	POMT2	Congenital muscular dystrophy	HP:0003741
29954	POMT2	Macroglossia	HP:0000158
29954	POMT2	Elevated serum creatine kinase	HP:0003236
29954	POMT2	Severe muscular hypotonia	HP:0006829
29954	POMT2	Cleft palate	HP:0000175
29954	POMT2	Submucous cleft hard palate	HP:0000176
29954	POMT2	Left ventricular hypertrophy	HP:0001712
29954	POMT2	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
29954	POMT2	Persistent pupillary membrane	HP:0009917
29954	POMT2	Cognitive impairment	HP:0100543
29954	POMT2	Right bundle branch block	HP:0011712
29954	POMT2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
29954	POMT2	Bifid uvula	HP:0000193
29954	POMT2	Open mouth	HP:0000194
29954	POMT2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
29954	POMT2	Cleft upper lip	HP:0000204
29954	POMT2	Intellectual disability	HP:0001249
29954	POMT2	Seizures	HP:0001250
29954	POMT2	Microcornea	HP:0000482
29954	POMT2	Muscular hypotonia	HP:0001252
29954	POMT2	Megalocornea	HP:0000485
29954	POMT2	Strabismus	HP:0000486
29954	POMT2	Anal atresia	HP:0002023
29954	POMT2	Muscular dystrophy	HP:0003560
29954	POMT2	Meningoencephalocele	HP:0006888
29954	POMT2	Spinal rigidity	HP:0003306
29954	POMT2	Hyperlordosis	HP:0003307
29954	POMT2	Hydrocephalus	HP:0000238
29954	POMT2	Global developmental delay	HP:0001263
29954	POMT2	Abnormal lactate dehydrogenase activity	HP:0045040
29954	POMT2	Hyporeflexia	HP:0001265
29954	POMT2	Congenital contracture	HP:0002803
29954	POMT2	Variable expressivity	HP:0003828
29954	POMT2	Glaucoma	HP:0000501
29954	POMT2	Motor delay	HP:0001270
29954	POMT2	Visual impairment	HP:0000505
29954	POMT2	Agenesis of corpus callosum	HP:0001274
29954	POMT2	Hypertonia	HP:0001276
29954	POMT2	Microcephaly	HP:0000252
29954	POMT2	Generalized muscle weakness	HP:0003324
5378	PMS1	Death in early adulthood	HP:0100613
5378	PMS1	Pancreatic adenocarcinoma	HP:0006725
5378	PMS1	Autosomal dominant inheritance	HP:0000006
5378	PMS1	Ovarian neoplasm	HP:0100615
5378	PMS1	Neoplasm of the rectum	HP:0100743
5378	PMS1	Gait disturbance	HP:0001288
5378	PMS1	Developmental regression	HP:0002376
5378	PMS1	Paresthesia	HP:0003401
5378	PMS1	Intestinal polyposis	HP:0200008
5378	PMS1	Depressivity	HP:0000716
5378	PMS1	Pituitary adenoma	HP:0002893
5378	PMS1	Glioblastoma multiforme	HP:0012174
5378	PMS1	Increased intracranial pressure	HP:0002516
5378	PMS1	Hemiplegia/hemiparesis	HP:0004374
5378	PMS1	Abnormal pyramidal sign	HP:0007256
5378	PMS1	Cardiac diverticulum	HP:0100571
5378	PMS1	Fatigue	HP:0012378
5378	PMS1	Flexion contracture	HP:0001371
5378	PMS1	Agnosia	HP:0010524
5378	PMS1	Migraine	HP:0002076
5378	PMS1	Dysgraphia	HP:0010526
5378	PMS1	Weight loss	HP:0001824
5378	PMS1	Nausea and vomiting	HP:0002017
5378	PMS1	Irritability	HP:0000737
5378	PMS1	Amaurosis fugax	HP:0100576
5378	PMS1	Hallucinations	HP:0000738
5378	PMS1	Seizures	HP:0001250
5378	PMS1	Urinary tract neoplasm	HP:0010786
5378	PMS1	Benign neoplasm of the central nervous system	HP:0100835
5378	PMS1	Visual field defect	HP:0001123
5378	PMS1	Anxiety	HP:0000739
5378	PMS1	Constipation	HP:0002019
5378	PMS1	Muscular hypotonia	HP:0001252
5378	PMS1	Malabsorption	HP:0002024
5378	PMS1	Attention deficit hyperactivity disorder	HP:0007018
5378	PMS1	Abdominal pain	HP:0002027
5378	PMS1	Dysarthria	HP:0001260
5378	PMS1	Basal cell carcinoma	HP:0002671
5378	PMS1	Memory impairment	HP:0002354
5378	PMS1	Death in infancy	HP:0001522
5378	PMS1	Dyskinesia	HP:0100660
5378	PMS1	Hepatocellular carcinoma	HP:0001402
5378	PMS1	Colon cancer	HP:0003003
5378	PMS1	Hypertonia	HP:0001276
5378	PMS1	Neoplasm of the skeletal system	HP:0010622
5378	PMS1	Neuroblastoma	HP:0003006
5378	PMS1	Neoplasm of the thyroid gland	HP:0100031
5378	PMS1	Gastrointestinal hemorrhage	HP:0002239
29957	SLC25A24	Small nail	HP:0001792
29957	SLC25A24	Umbilical hernia	HP:0001537
29957	SLC25A24	Absent nipple	HP:0002561
29957	SLC25A24	Wide anterior fontanel	HP:0000260
29957	SLC25A24	Anonychia	HP:0001798
29957	SLC25A24	Turricephaly	HP:0000262
29957	SLC25A24	Autosomal dominant inheritance	HP:0000006
29957	SLC25A24	Proptosis	HP:0000520
29957	SLC25A24	Anteriorly placed anus	HP:0001545
29957	SLC25A24	Generalized hypotonia	HP:0001290
29957	SLC25A24	Retrognathia	HP:0000278
29957	SLC25A24	Midface retrusion	HP:0011800
29957	SLC25A24	Hypermetropia	HP:0000540
29957	SLC25A24	Epicanthus	HP:0000286
29957	SLC25A24	Hypoplasia of the corpus callosum	HP:0002079
29957	SLC25A24	Low anterior hairline	HP:0000294
29957	SLC25A24	Cerebellar vermis hypoplasia	HP:0001320
29957	SLC25A24	Cerebellar hypoplasia	HP:0001321
29957	SLC25A24	Pulmonary hypoplasia	HP:0002089
29957	SLC25A24	Muscle weakness	HP:0001324
29957	SLC25A24	Pulmonary arterial hypertension	HP:0002092
29957	SLC25A24	Respiratory insufficiency	HP:0002093
29957	SLC25A24	Redundant skin	HP:0001582
29957	SLC25A24	Scrotal hypoplasia	HP:0000046
29957	SLC25A24	Mandibular prognathia	HP:0000303
29957	SLC25A24	Deep palmar crease	HP:0006191
29957	SLC25A24	Congenital craniofacial dysostosis	HP:0008497
29957	SLC25A24	Recurrent aspiration pneumonia	HP:0002100
29957	SLC25A24	Abnormal dermatoglyphics	HP:0007477
29957	SLC25A24	Micropenis	HP:0000054
29957	SLC25A24	Microphthalmia	HP:0000568
29957	SLC25A24	Protruding tongue	HP:0010808
29957	SLC25A24	Pneumothorax	HP:0002107
29957	SLC25A24	Hypertelorism	HP:0000316
29957	SLC25A24	Tricuspid regurgitation	HP:0005180
29957	SLC25A24	Long eyelashes in irregular rows	HP:0007740
29957	SLC25A24	Abnormality of the nail	HP:0001597
29957	SLC25A24	Thick eyebrow	HP:0000574
29957	SLC25A24	Smooth philtrum	HP:0000319
29957	SLC25A24	Triangular face	HP:0000325
29957	SLC25A24	Premature skin wrinkling	HP:0100678
29957	SLC25A24	Hypoplasia of the maxilla	HP:0000327
29957	SLC25A24	Prematurely aged appearance	HP:0007495
29957	SLC25A24	Reduced number of teeth	HP:0009804
29957	SLC25A24	Aortic aneurysm	HP:0004942
29957	SLC25A24	Broad forehead	HP:0000337
29957	SLC25A24	Long philtrum	HP:0000343
29957	SLC25A24	Coronal craniosynostosis	HP:0004440
29957	SLC25A24	Scoliosis	HP:0002650
29957	SLC25A24	Abnormal heart morphology	HP:0001627
29957	SLC25A24	Micrognathia	HP:0000347
29957	SLC25A24	Atrial septal defect	HP:0001631
29957	SLC25A24	Aplastic/hypoplastic lacrimal glands	HP:0008038
29957	SLC25A24	Posteriorly rotated ears	HP:0000358
29957	SLC25A24	Patent ductus arteriosus	HP:0001643
29957	SLC25A24	Bicuspid aortic valve	HP:0001647
29957	SLC25A24	Low-set, posteriorly rotated ears	HP:0000368
29957	SLC25A24	Low-set ears	HP:0000369
29957	SLC25A24	Low posterior hairline	HP:0002162
29957	SLC25A24	Abnormality of the pinna	HP:0000377
29957	SLC25A24	Short nose	HP:0003196
29957	SLC25A24	Upper eyelid coloboma	HP:0000636
29957	SLC25A24	Hypoplasia of the abdominal wall musculature	HP:0005247
29957	SLC25A24	Nystagmus	HP:0000639
29957	SLC25A24	Sparse hair	HP:0008070
29957	SLC25A24	Syndactyly	HP:0001159
29957	SLC25A24	Sclerocornea	HP:0000647
29957	SLC25A24	Abnormality of the metacarpal bones	HP:0001163
29957	SLC25A24	High, narrow palate	HP:0002705
29957	SLC25A24	Conductive hearing impairment	HP:0000405
29957	SLC25A24	Synophrys	HP:0000664
29957	SLC25A24	Dermal translucency	HP:0010648
29957	SLC25A24	Short distal phalanx of finger	HP:0009882
29957	SLC25A24	Platyspondyly	HP:0000926
29957	SLC25A24	Depressed nasal bridge	HP:0005280
29957	SLC25A24	Coarse hair	HP:0002208
29957	SLC25A24	Narrow mouth	HP:0000160
29957	SLC25A24	Sparse scalp hair	HP:0002209
29957	SLC25A24	Underdeveloped supraorbital ridges	HP:0009891
29957	SLC25A24	Oligodontia	HP:0000677
29957	SLC25A24	Reduced subcutaneous adipose tissue	HP:0003758
29957	SLC25A24	Absent distal phalanges	HP:0005807
29957	SLC25A24	Left ventricular hypertrophy	HP:0001712
29957	SLC25A24	Microdontia	HP:0000691
29957	SLC25A24	Generalized hirsutism	HP:0002230
29957	SLC25A24	Convex nasal ridge	HP:0000444
29957	SLC25A24	Aplasia/Hypoplasia of the nasal bone	HP:0010940
29957	SLC25A24	Delayed skeletal maturation	HP:0002750
29957	SLC25A24	Feeding difficulties	HP:0011968
29957	SLC25A24	Short palpebral fissure	HP:0012745
29957	SLC25A24	Thin upper lip vermilion	HP:0000219
29957	SLC25A24	Abnormality of the foot	HP:0001760
29957	SLC25A24	Short stature	HP:0004322
29957	SLC25A24	Astigmatism	HP:0000483
29957	SLC25A24	Lipoatrophy	HP:0100578
29957	SLC25A24	Gastroesophageal reflux	HP:0002020
29957	SLC25A24	Failure to thrive	HP:0001508
29957	SLC25A24	Hypertrichosis	HP:0000998
29957	SLC25A24	Strabismus	HP:0000486
29957	SLC25A24	Intrauterine growth retardation	HP:0001511
29957	SLC25A24	Everted lower lip vermilion	HP:0000232
29957	SLC25A24	Intellectual disability, mild	HP:0001256
29957	SLC25A24	Gray matter heterotopia	HP:0002282
29957	SLC25A24	Decreased skull ossification	HP:0004331
29957	SLC25A24	Downslanted palpebral fissures	HP:0000494
29957	SLC25A24	Hydrocephalus	HP:0000238
29957	SLC25A24	Brachycephaly	HP:0000248
29957	SLC25A24	Abnormality of vision	HP:0000504
29957	SLC25A24	Congenital onset	HP:0003577
29957	SLC25A24	Shagreen patch	HP:0009721
29957	SLC25A24	Brittle hair	HP:0002299
29957	SLC25A24	Microcephaly	HP:0000252
29957	SLC25A24	Hypoplastic nipples	HP:0002557
29958	DMGDH	Fish odor	HP:0410020
29958	DMGDH	Elevated serum creatine kinase	HP:0003236
29958	DMGDH	Increased muscle fatiguability	HP:0003750
29958	DMGDH	Autosomal recessive inheritance	HP:0000007
29958	DMGDH	Elevated N,N-dimethylglycine level	HP:0031945
29958	DMGDH	Elevated urinary N,N-dimethylglycine level	HP:0031946
29958	DMGDH	Abnormal enzyme/coenzyme activity	HP:0012379
54539	NDUFB11	Cleft earlobe	HP:0011265
54539	NDUFB11	Cataract	HP:0000518
54539	NDUFB11	Congenital diaphragmatic hernia	HP:0000776
54539	NDUFB11	Anteriorly placed anus	HP:0001545
54539	NDUFB11	Vitritis	HP:0011531
54539	NDUFB11	Hypoplasia of the uterus	HP:0000013
54539	NDUFB11	Anophthalmia	HP:0000528
54539	NDUFB11	Abnormality of the fallopian tube	HP:0011027
54539	NDUFB11	Retrognathia	HP:0000278
54539	NDUFB11	Abnormality of retinal pigmentation	HP:0007703
54539	NDUFB11	Midface retrusion	HP:0011800
54539	NDUFB11	Abnormality of the anus	HP:0004378
54539	NDUFB11	Hypopigmented skin patches	HP:0001053
54539	NDUFB11	Erythema	HP:0010783
54539	NDUFB11	Histiocytoid cardiomyopathy	HP:0005152
54539	NDUFB11	Echolalia	HP:0010529
54539	NDUFB11	Myopia	HP:0000545
54539	NDUFB11	Abnormal testis morphology	HP:0000035
54539	NDUFB11	Retinal dysplasia	HP:0007973
54539	NDUFB11	Male pseudohermaphroditism	HP:0000037
54539	NDUFB11	Epispadias	HP:0000039
54539	NDUFB11	Chordee	HP:0000041
54539	NDUFB11	Retinal dystrophy	HP:0000556
54539	NDUFB11	Dilation of lateral ventricles	HP:0006956
54539	NDUFB11	Hypospadias	HP:0000047
54539	NDUFB11	Specific learning disability	HP:0001328
54539	NDUFB11	Respiratory distress	HP:0002098
54539	NDUFB11	Absent septum pellucidum	HP:0001331
54539	NDUFB11	Chorioretinal dysplasia	HP:0007731
54539	NDUFB11	Lacrimal duct atresia	HP:0000564
54539	NDUFB11	Dysphasia	HP:0002357
54539	NDUFB11	Micropenis	HP:0000054
54539	NDUFB11	Microphthalmia	HP:0000568
54539	NDUFB11	Visual loss	HP:0000572
54539	NDUFB11	Tricuspid regurgitation	HP:0005180
54539	NDUFB11	Ovotestis	HP:0012861
54539	NDUFB11	Abnormality of the nail	HP:0001597
54539	NDUFB11	Ambiguous genitalia	HP:0000062
54539	NDUFB11	Respiratory failure	HP:0002878
54539	NDUFB11	Overriding aorta	HP:0002623
54539	NDUFB11	Pigmentary retinopathy	HP:0000580
54539	NDUFB11	Aphasia	HP:0002381
54539	NDUFB11	Status epilepticus	HP:0002133
54539	NDUFB11	Micrognathia	HP:0000347
54539	NDUFB11	Ventricular septal defect	HP:0001629
54539	NDUFB11	Atrial septal defect	HP:0001631
54539	NDUFB11	Colpocephaly	HP:0030048
54539	NDUFB11	Mitral valve prolapse	HP:0001634
54539	NDUFB11	Iris coloboma	HP:0000612
54539	NDUFB11	Abnormal nasolacrimal system morphology	HP:0000614
54539	NDUFB11	Hypertrophic cardiomyopathy	HP:0001639
54539	NDUFB11	Blindness	HP:0000618
54539	NDUFB11	Dilated cardiomyopathy	HP:0001644
54539	NDUFB11	Hearing impairment	HP:0000365
54539	NDUFB11	Posterior embryotoxon	HP:0000627
54539	NDUFB11	Mitral regurgitation	HP:0001653
54539	NDUFB11	Abnormal mitochondria in muscle tissue	HP:0008316
54539	NDUFB11	Ventricular fibrillation	HP:0001663
54539	NDUFB11	Nystagmus	HP:0000639
54539	NDUFB11	Amblyopia	HP:0000646
54539	NDUFB11	Sclerocornea	HP:0000647
54539	NDUFB11	Abnormal cardiac septum morphology	HP:0001671
54539	NDUFB11	X-linked dominant inheritance	HP:0001423
54539	NDUFB11	Abnormality of metabolism/homeostasis	HP:0001939
54539	NDUFB11	Ventricular tachycardia	HP:0004756
54539	NDUFB11	Hyperpigmented streaks	HP:0007572
54539	NDUFB11	Arrhythmia	HP:0011675
54539	NDUFB11	Cardiac arrest	HP:0001695
54539	NDUFB11	Tricuspid valve prolapse	HP:0001704
54539	NDUFB11	Abnormality of dental enamel	HP:0000682
54539	NDUFB11	Wide nasal bridge	HP:0000431
54539	NDUFB11	Severe short stature	HP:0003510
54539	NDUFB11	Hyperpigmentation of the skin	HP:0000953
54539	NDUFB11	Wide nose	HP:0000445
54539	NDUFB11	Feeding difficulties	HP:0011968
54539	NDUFB11	Sacral dimple	HP:0000960
54539	NDUFB11	Functional motor deficit	HP:0004302
54539	NDUFB11	Abnormal facial shape	HP:0001999
54539	NDUFB11	Mandibular aplasia	HP:0009939
54539	NDUFB11	Clitoral hypertrophy	HP:0008665
54539	NDUFB11	Intellectual disability	HP:0001249
54539	NDUFB11	Short stature	HP:0004322
54539	NDUFB11	Seizures	HP:0001250
54539	NDUFB11	Neonatal death	HP:0003811
54539	NDUFB11	Failure to thrive	HP:0001508
54539	NDUFB11	Asymmetric, linear skin defects	HP:0007398
54539	NDUFB11	Strabismus	HP:0000486
54539	NDUFB11	Intellectual disability, progressive	HP:0006887
54539	NDUFB11	Anal atresia	HP:0002023
54539	NDUFB11	Muscular hypotonia of the trunk	HP:0008936
54539	NDUFB11	Hydrocephalus	HP:0000238
54539	NDUFB11	Dermal atrophy	HP:0004334
54539	NDUFB11	Global developmental delay	HP:0001263
54539	NDUFB11	Abnormality of the rectum	HP:0002034
54539	NDUFB11	Abnormal eyelash morphology	HP:0000499
54539	NDUFB11	Glaucoma	HP:0000501
54539	NDUFB11	Congenital onset	HP:0003577
54539	NDUFB11	Agenesis of corpus callosum	HP:0001274
54539	NDUFB11	Microcephaly	HP:0000252
54539	NDUFB11	Mutism	HP:0002300
29968	PSAT1	Ichthyosis	HP:0008064
29968	PSAT1	Skeletal muscle atrophy	HP:0003202
29968	PSAT1	Opisthotonus	HP:0002179
29968	PSAT1	Cataract	HP:0000518
29968	PSAT1	Hypogonadism	HP:0000135
29968	PSAT1	Autosomal recessive inheritance	HP:0000007
29968	PSAT1	Proptosis	HP:0000520
29968	PSAT1	Infantile onset	HP:0003593
29968	PSAT1	Psychomotor retardation	HP:0025356
29968	PSAT1	Prominent occiput	HP:0000269
29968	PSAT1	Macrotia	HP:0000400
29968	PSAT1	Decreased fetal movement	HP:0001558
29968	PSAT1	Retrognathia	HP:0000278
29968	PSAT1	Pachygyria	HP:0001302
29968	PSAT1	Large hands	HP:0001176
29968	PSAT1	Polyhydramnios	HP:0001561
29968	PSAT1	Dandy-Walker malformation	HP:0001305
29968	PSAT1	Abnormality of the philtrum	HP:0000288
29968	PSAT1	Pterygium	HP:0001059
29968	PSAT1	Micromelia	HP:0002983
29968	PSAT1	Feeding difficulties in infancy	HP:0008872
29968	PSAT1	Cerebellar vermis hypoplasia	HP:0001320
29968	PSAT1	Pulmonary hypoplasia	HP:0002089
29968	PSAT1	External genital hypoplasia	HP:0003241
29968	PSAT1	Cerebellar hypoplasia	HP:0001321
29968	PSAT1	Osteopenia	HP:0000938
29968	PSAT1	Osteoporosis	HP:0000939
29968	PSAT1	Rocker bottom foot	HP:0001838
29968	PSAT1	Cleft palate	HP:0000175
29968	PSAT1	Submucous cleft hard palate	HP:0000176
29968	PSAT1	Absent septum pellucidum	HP:0001331
29968	PSAT1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
29968	PSAT1	Thick vermilion border	HP:0012471
29968	PSAT1	Macrogyria	HP:0007227
29968	PSAT1	Hypertelorism	HP:0000316
29968	PSAT1	Rickets	HP:0002748
29968	PSAT1	Osteomalacia	HP:0002749
29968	PSAT1	Ambiguous genitalia	HP:0000062
29968	PSAT1	Bifid uvula	HP:0000193
29968	PSAT1	Muscle spasm	HP:0003394
29968	PSAT1	Lack of skin elasticity	HP:0100679
29968	PSAT1	Depressed nasal ridge	HP:0000457
29968	PSAT1	Polymicrogyria	HP:0002126
29968	PSAT1	Cerebral calcification	HP:0002514
29968	PSAT1	Trismus	HP:0000211
29968	PSAT1	Sloping forehead	HP:0000340
29968	PSAT1	Short neck	HP:0000470
29968	PSAT1	Abnormality of cardiovascular system morphology	HP:0030680
29968	PSAT1	Scoliosis	HP:0002650
29968	PSAT1	High palate	HP:0000218
29968	PSAT1	Micrognathia	HP:0000347
29968	PSAT1	Seizures	HP:0001250
29968	PSAT1	Abnormal nasolacrimal system morphology	HP:0000614
29968	PSAT1	Intrauterine growth retardation	HP:0001511
29968	PSAT1	Everted lower lip vermilion	HP:0000232
29968	PSAT1	Muscular dystrophy	HP:0003560
29968	PSAT1	Broad foot	HP:0001769
29968	PSAT1	Postnatal microcephaly	HP:0005484
29968	PSAT1	Spina bifida	HP:0002414
29968	PSAT1	Global developmental delay	HP:0001263
29968	PSAT1	Low-set ears	HP:0000369
29968	PSAT1	Abnormal eyelash morphology	HP:0000499
29968	PSAT1	Arthrogryposis multiplex congenita	HP:0002804
29968	PSAT1	Hypoglycinemia	HP:0012277
29968	PSAT1	Hyposerinemia	HP:0012279
29968	PSAT1	Congenital onset	HP:0003577
29968	PSAT1	Abnormality of the pinna	HP:0000377
29968	PSAT1	Microcephaly	HP:0000252
29968	PSAT1	Hypertonia	HP:0001276
5393	EXOSC9	Feeding difficulties	HP:0011968
5393	EXOSC9	Seizures	HP:0001250
5393	EXOSC9	Hyperreflexia	HP:0001347
5393	EXOSC9	Failure to thrive	HP:0001508
5393	EXOSC9	Intrauterine growth retardation	HP:0001511
5393	EXOSC9	Spasticity	HP:0001257
5393	EXOSC9	Generalized hypotonia	HP:0001290
5393	EXOSC9	Oral-pharyngeal dysphagia	HP:0200136
5393	EXOSC9	Cerebral atrophy	HP:0002059
5393	EXOSC9	Fasciculations	HP:0002380
5393	EXOSC9	Respiratory insufficiency	HP:0002093
5393	EXOSC9	Global developmental delay	HP:0001263
5393	EXOSC9	Hyporeflexia	HP:0001265
5393	EXOSC9	Poor head control	HP:0002421
5393	EXOSC9	Cerebellar atrophy	HP:0001272
5393	EXOSC9	Flexion contracture	HP:0001371
5393	EXOSC9	Hypertelorism	HP:0000316
5393	EXOSC9	Microcephaly	HP:0000252
5393	EXOSC9	Progressive	HP:0003676
5393	EXOSC9	Adducted thumb	HP:0001181
5393	EXOSC9	Recurrent respiratory infections	HP:0002205
5393	EXOSC9	Epicanthus	HP:0000286
5393	EXOSC9	Nystagmus	HP:0000639
5395	PMS2	Death in early adulthood	HP:0100613
5395	PMS2	Ovarian neoplasm	HP:0100615
5395	PMS2	Autosomal dominant inheritance	HP:0000006
5395	PMS2	Neoplasm of the rectum	HP:0100743
5395	PMS2	Autosomal recessive inheritance	HP:0000007
5395	PMS2	Gait disturbance	HP:0001288
5395	PMS2	Hypermelanotic macule	HP:0001034
5395	PMS2	Glioblastoma multiforme	HP:0012174
5395	PMS2	Hemiplegia/hemiparesis	HP:0004374
5395	PMS2	Agnosia	HP:0010524
5395	PMS2	Migraine	HP:0002076
5395	PMS2	Abnormality of abdomen morphology	HP:0001438
5395	PMS2	Dysgraphia	HP:0010526
5395	PMS2	Weight loss	HP:0001824
5395	PMS2	Urinary tract neoplasm	HP:0010786
5395	PMS2	Rhabdomyosarcoma	HP:0002859
5395	PMS2	Memory impairment	HP:0002354
5395	PMS2	Dyskinesia	HP:0100660
5395	PMS2	Colon cancer	HP:0003003
5395	PMS2	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
5395	PMS2	Cafe-au-lait spot	HP:0000957
5395	PMS2	Neuroblastoma	HP:0003006
5395	PMS2	Neoplasm of the thyroid gland	HP:0100031
5395	PMS2	Gastrointestinal hemorrhage	HP:0002239
5395	PMS2	Medulloblastoma	HP:0002885
5395	PMS2	Pancreatic adenocarcinoma	HP:0006725
5395	PMS2	Ependymoma	HP:0002888
5395	PMS2	Developmental regression	HP:0002376
5395	PMS2	Paresthesia	HP:0003401
5395	PMS2	Intestinal polyposis	HP:0200008
5395	PMS2	Depressivity	HP:0000716
5395	PMS2	Pituitary adenoma	HP:0002893
5395	PMS2	Endometrial carcinoma	HP:0012114
5395	PMS2	Increased intracranial pressure	HP:0002516
5395	PMS2	Abnormal pyramidal sign	HP:0007256
5395	PMS2	Cardiac diverticulum	HP:0100571
5395	PMS2	Fatigue	HP:0012378
5395	PMS2	Flexion contracture	HP:0001371
5395	PMS2	Nausea and vomiting	HP:0002017
5395	PMS2	Irritability	HP:0000737
5395	PMS2	Amaurosis fugax	HP:0100576
5395	PMS2	Hallucinations	HP:0000738
5395	PMS2	Seizures	HP:0001250
5395	PMS2	Benign neoplasm of the central nervous system	HP:0100835
5395	PMS2	Visual field defect	HP:0001123
5395	PMS2	Anxiety	HP:0000739
5395	PMS2	Constipation	HP:0002019
5395	PMS2	Muscular hypotonia	HP:0001252
5395	PMS2	Axillary freckling	HP:0000997
5395	PMS2	Malabsorption	HP:0002024
5395	PMS2	Lymphoma	HP:0002665
5395	PMS2	Attention deficit hyperactivity disorder	HP:0007018
5395	PMS2	Abdominal pain	HP:0002027
5395	PMS2	Dysarthria	HP:0001260
5395	PMS2	Basal cell carcinoma	HP:0002671
5395	PMS2	Death in infancy	HP:0001522
5395	PMS2	Leukemia	HP:0001909
5395	PMS2	Astrocytoma	HP:0009592
5395	PMS2	Agenesis of corpus callosum	HP:0001274
5395	PMS2	Hepatocellular carcinoma	HP:0001402
5395	PMS2	Hypertonia	HP:0001276
5395	PMS2	Neoplasm of the skeletal system	HP:0010622
5396	PRRX1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
5396	PRRX1	Aplasia/Hypoplasia involving the nose	HP:0009924
5396	PRRX1	Autosomal dominant inheritance	HP:0000006
5396	PRRX1	Autosomal recessive inheritance	HP:0000007
5396	PRRX1	Abnormal cranial nerve morphology	HP:0001291
5396	PRRX1	Holoprosencephaly	HP:0001360
5396	PRRX1	Mandibular aplasia	HP:0009939
5396	PRRX1	Conductive hearing impairment	HP:0000405
5396	PRRX1	Polyhydramnios	HP:0001561
5396	PRRX1	Tracheomalacia	HP:0002779
5396	PRRX1	Micrognathia	HP:0000347
5396	PRRX1	Abnormality of the eye	HP:0000478
5396	PRRX1	Narrow mouth	HP:0000160
5396	PRRX1	Situs inversus totalis	HP:0001696
5396	PRRX1	Hypoplasia of penis	HP:0008736
5396	PRRX1	Abnormality of the outer ear	HP:0000356
5396	PRRX1	Hypoplasia of the epiglottis	HP:0005349
5396	PRRX1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
5396	PRRX1	Microglossia	HP:0000171
5396	PRRX1	Laryngeal hypoplasia	HP:0008749
5396	PRRX1	Downslanted palpebral fissures	HP:0000494
5396	PRRX1	Cleft palate	HP:0000175
5396	PRRX1	Low-set, posteriorly rotated ears	HP:0000368
5396	PRRX1	Respiratory distress	HP:0002098
5396	PRRX1	Absent nares	HP:0100596
5396	PRRX1	Synotia	HP:0100663
5396	PRRX1	Agenesis of corpus callosum	HP:0001274
5396	PRRX1	Aglossia	HP:0012730
5396	PRRX1	Cyclopia	HP:0009914
5396	PRRX1	Narrow internal auditory canal	HP:0011386
54551	MAGEL2	Autosomal dominant inheritance	HP:0000006
54551	MAGEL2	Infantile onset	HP:0003593
54551	MAGEL2	Generalized hypotonia	HP:0001290
54551	MAGEL2	Dolichocephaly	HP:0000268
54551	MAGEL2	Primary amenorrhea	HP:0000786
54551	MAGEL2	Infertility	HP:0000789
54551	MAGEL2	Decreased fetal movement	HP:0001558
54551	MAGEL2	Retrognathia	HP:0000278
54551	MAGEL2	Coarse facial features	HP:0000280
54551	MAGEL2	Cryptorchidism	HP:0000028
54551	MAGEL2	Hypermetropia	HP:0000540
54551	MAGEL2	Polyphagia	HP:0002591
54551	MAGEL2	Abnormality of the philtrum	HP:0000288
54551	MAGEL2	Myopia	HP:0000545
54551	MAGEL2	Sleep apnea	HP:0010535
54551	MAGEL2	Neonatal hypotonia	HP:0001319
54551	MAGEL2	Genu valgum	HP:0002857
54551	MAGEL2	Hypogonadotrophic hypogonadism	HP:0000044
54551	MAGEL2	Scrotal hypoplasia	HP:0000046
54551	MAGEL2	Rocker bottom foot	HP:0001838
54551	MAGEL2	Mandibular prognathia	HP:0000303
54551	MAGEL2	Specific learning disability	HP:0001328
54551	MAGEL2	Iris hypopigmentation	HP:0007730
54551	MAGEL2	Esotropia	HP:0000565
54551	MAGEL2	Micropenis	HP:0000054
54551	MAGEL2	Delayed puberty	HP:0000823
54551	MAGEL2	Growth hormone deficiency	HP:0000824
54551	MAGEL2	Precocious puberty	HP:0000826
54551	MAGEL2	Clitoral hypoplasia	HP:0000060
54551	MAGEL2	Thick eyebrow	HP:0000574
54551	MAGEL2	Hypoplastic labia minora	HP:0000064
54551	MAGEL2	Absent speech	HP:0001344
54551	MAGEL2	Upslanted palpebral fissure	HP:0000582
54551	MAGEL2	Ventriculomegaly	HP:0002119
54551	MAGEL2	Hyperinsulinemia	HP:0000842
54551	MAGEL2	Nasal speech	HP:0001611
54551	MAGEL2	Adrenal insufficiency	HP:0000846
54551	MAGEL2	Temperature instability	HP:0005968
54551	MAGEL2	Narrow forehead	HP:0000341
54551	MAGEL2	Generalized hypopigmentation	HP:0007513
54551	MAGEL2	Type II diabetes mellitus	HP:0005978
54551	MAGEL2	Scoliosis	HP:0002650
54551	MAGEL2	Flexion contracture	HP:0001371
54551	MAGEL2	Camptodactyly	HP:0012385
54551	MAGEL2	Poor fine motor coordination	HP:0007010
54551	MAGEL2	Poor gross motor coordination	HP:0007015
54551	MAGEL2	Impulsivity	HP:0100710
54551	MAGEL2	Hip dysplasia	HP:0001385
54551	MAGEL2	Attention deficit hyperactivity disorder	HP:0007018
54551	MAGEL2	Oligomenorrhea	HP:0000876
54551	MAGEL2	Small hand	HP:0200055
54551	MAGEL2	Decreased muscle mass	HP:0003199
54551	MAGEL2	Clinodactyly	HP:0030084
54551	MAGEL2	Brachydactyly	HP:0001156
54551	MAGEL2	Acromicria	HP:0031878
54551	MAGEL2	Syndactyly	HP:0001159
54551	MAGEL2	Hypogonadism	HP:0000135
54551	MAGEL2	Downturned corners of mouth	HP:0002714
54551	MAGEL2	Recurrent respiratory infections	HP:0002205
54551	MAGEL2	Carious teeth	HP:0000670
54551	MAGEL2	Tapered finger	HP:0001182
54551	MAGEL2	Impaired pain sensation	HP:0007328
54551	MAGEL2	Sporadic	HP:0003745
54551	MAGEL2	Osteopenia	HP:0000938
54551	MAGEL2	Osteoporosis	HP:0000939
54551	MAGEL2	Short palm	HP:0004279
54551	MAGEL2	Narrow palm	HP:0004283
54551	MAGEL2	Frontal upsweep of hair	HP:0002236
54551	MAGEL2	Narrow nasal bridge	HP:0000446
54551	MAGEL2	Delayed ability to walk	HP:0031936
54551	MAGEL2	Feeding difficulties	HP:0011968
54551	MAGEL2	Almond-shaped palpebral fissure	HP:0007874
54551	MAGEL2	Open mouth	HP:0000194
54551	MAGEL2	Psychosis	HP:0000709
54551	MAGEL2	Fetal akinesia sequence	HP:0001989
54551	MAGEL2	Abdominal obesity	HP:0012743
54551	MAGEL2	Short palpebral fissure	HP:0012745
54551	MAGEL2	Autism	HP:0000717
54551	MAGEL2	Frontal bossing	HP:0002007
54551	MAGEL2	Thin upper lip vermilion	HP:0000219
54551	MAGEL2	Hypopigmentation of hair	HP:0005599
54551	MAGEL2	Cutaneous photosensitivity	HP:0000992
54551	MAGEL2	Intellectual disability	HP:0001249
54551	MAGEL2	Seizures	HP:0001250
54551	MAGEL2	Short stature	HP:0004322
54551	MAGEL2	Constipation	HP:0002019
54551	MAGEL2	Gastroesophageal reflux	HP:0002020
54551	MAGEL2	Hypoventilation	HP:0002791
54551	MAGEL2	Obesity	HP:0001513
54551	MAGEL2	Inability to walk	HP:0002540
54551	MAGEL2	Short foot	HP:0001773
54551	MAGEL2	Delayed speech and language development	HP:0000750
54551	MAGEL2	Global developmental delay	HP:0001263
54551	MAGEL2	Poor suck	HP:0002033
54551	MAGEL2	Arthrogryposis multiplex congenita	HP:0002804
54551	MAGEL2	Motor delay	HP:0001270
54551	MAGEL2	Kyphosis	HP:0002808
54551	MAGEL2	Radial deviation of finger	HP:0009466
54551	MAGEL2	Failure to thrive in infancy	HP:0001531
29978	UBQLN2	Athetosis	HP:0002305
29978	UBQLN2	Skeletal muscle atrophy	HP:0003202
29978	UBQLN2	Muscle spasm	HP:0003394
29978	UBQLN2	Neurodegeneration	HP:0002180
29978	UBQLN2	Emotional lability	HP:0000712
29978	UBQLN2	Agitation	HP:0000713
29978	UBQLN2	Depressivity	HP:0000716
29978	UBQLN2	Paralysis	HP:0003470
29978	UBQLN2	X-linked dominant inheritance	HP:0001423
29978	UBQLN2	Laryngospasm	HP:0025425
29978	UBQLN2	Xerostomia	HP:0000217
29978	UBQLN2	Fatigue	HP:0012378
29978	UBQLN2	Progressive	HP:0003676
29978	UBQLN2	Dysphagia	HP:0002015
29978	UBQLN2	Frontotemporal dementia	HP:0002145
29978	UBQLN2	Nausea and vomiting	HP:0002017
29978	UBQLN2	Anxiety	HP:0000739
29978	UBQLN2	Spasticity	HP:0001257
29978	UBQLN2	Dysarthria	HP:0001260
29978	UBQLN2	Dyspnea	HP:0002094
29978	UBQLN2	Fatigable weakness of swallowing muscles	HP:0030195
29978	UBQLN2	Pain	HP:0012531
29978	UBQLN2	Dystonia	HP:0001332
29978	UBQLN2	Fatigable weakness of respiratory muscles	HP:0030196
29978	UBQLN2	Axonal loss	HP:0003447
29978	UBQLN2	Amyotrophic lateral sclerosis	HP:0007354
29978	UBQLN2	Gliosis	HP:0002171
29978	UBQLN2	Generalized muscle weakness	HP:0003324
29978	UBQLN2	Adult onset	HP:0003581
29978	UBQLN2	Respiratory failure	HP:0002878
29980	DONSON	Short metacarpal	HP:0010049
29980	DONSON	Abnormality of the hand	HP:0001155
29980	DONSON	Brachydactyly	HP:0001156
29980	DONSON	Oligodactyly	HP:0012165
29980	DONSON	Absent radius	HP:0003974
29980	DONSON	Autosomal recessive inheritance	HP:0000007
29980	DONSON	Short palpebral fissure	HP:0012745
29980	DONSON	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
29980	DONSON	Dislocated radial head	HP:0003083
29980	DONSON	Mesomelia	HP:0003027
29980	DONSON	Simplified gyral pattern	HP:0009879
29980	DONSON	Oligohydramnios	HP:0001562
29980	DONSON	Cystic hygroma	HP:0000476
29980	DONSON	Forearm undergrowth	HP:0009821
29980	DONSON	Radioulnar synostosis	HP:0002974
29980	DONSON	Narrow mouth	HP:0000160
29980	DONSON	Humeroradial synostosis	HP:0003041
29980	DONSON	Talipes equinovarus	HP:0001762
29980	DONSON	Intrauterine growth retardation	HP:0001511
29980	DONSON	Micromelia	HP:0002983
29980	DONSON	Short tibia	HP:0005736
29980	DONSON	Hypoplasia of the radius	HP:0002984
29980	DONSON	Intellectual disability, mild	HP:0001256
29980	DONSON	Patellar aplasia	HP:0006443
29980	DONSON	Cleft palate	HP:0000175
29980	DONSON	Global developmental delay	HP:0001263
29980	DONSON	Clinodactyly of the 5th finger	HP:0004209
29980	DONSON	Microphthalmia	HP:0000568
29980	DONSON	Congenital onset	HP:0003577
29980	DONSON	Convex nasal ridge	HP:0000444
29980	DONSON	Microcephaly	HP:0000252
29980	DONSON	Wide nose	HP:0000445
79133	NDUFAF5	Hyperreflexia	HP:0001347
79133	NDUFAF5	Pigmentary retinopathy	HP:0000580
79133	NDUFAF5	Optic atrophy	HP:0000648
79133	NDUFAF5	Emotional lability	HP:0000712
79133	NDUFAF5	Decreased activity of mitochondrial respiratory chain	HP:0008972
79133	NDUFAF5	Focal T2 hyperintense basal ganglia lesion	HP:0007183
79133	NDUFAF5	Abnormality of extrapyramidal motor function	HP:0002071
79133	NDUFAF5	Progressive cerebellar ataxia	HP:0002073
79133	NDUFAF5	Ophthalmoplegia	HP:0000602
79133	NDUFAF5	Ventricular septal defect	HP:0001629
79133	NDUFAF5	Seizures	HP:0001250
79133	NDUFAF5	Failure to thrive	HP:0001508
79133	NDUFAF5	Muscular hypotonia	HP:0001252
79133	NDUFAF5	Strabismus	HP:0000486
79133	NDUFAF5	Hypertrichosis	HP:0000998
79133	NDUFAF5	Peripheral neuropathy	HP:0009830
79133	NDUFAF5	Increased serum lactate	HP:0002151
79133	NDUFAF5	Hypertrophic cardiomyopathy	HP:0001639
79133	NDUFAF5	Intrauterine growth retardation	HP:0001511
79133	NDUFAF5	Spasticity	HP:0001257
79133	NDUFAF5	Progressive spastic paraplegia	HP:0007020
79133	NDUFAF5	Dysarthria	HP:0001260
79133	NDUFAF5	Hearing impairment	HP:0000365
79133	NDUFAF5	Anemia	HP:0001903
79133	NDUFAF5	Global developmental delay	HP:0001263
79133	NDUFAF5	Leukodystrophy	HP:0002415
79133	NDUFAF5	Intellectual disability, severe	HP:0010864
79133	NDUFAF5	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
79133	NDUFAF5	Choreoathetosis	HP:0001266
79133	NDUFAF5	Dystonia	HP:0001332
79133	NDUFAF5	Apnea	HP:0002104
79133	NDUFAF5	Increased CSF lactate	HP:0002490
79133	NDUFAF5	Agenesis of corpus callosum	HP:0001274
79133	NDUFAF5	Abnormal mitochondria in muscle tissue	HP:0008316
79133	NDUFAF5	Ptosis	HP:0000508
79133	NDUFAF5	Nystagmus	HP:0000639
5406	PNLIP	Hypolipidemia	HP:0045014
5406	PNLIP	Autosomal recessive inheritance	HP:0000007
5406	PNLIP	Steatorrhea	HP:0002570
202018	TAPT1	Decreased fibular diameter	HP:0031107
202018	TAPT1	Short ribs	HP:0000773
202018	TAPT1	Ascites	HP:0001541
202018	TAPT1	Autosomal recessive inheritance	HP:0000007
202018	TAPT1	Thoracic hypoplasia	HP:0005257
202018	TAPT1	Fractured radius	HP:0003978
202018	TAPT1	Short femur	HP:0003097
202018	TAPT1	Polyhydramnios	HP:0001561
202018	TAPT1	Pleural effusion	HP:0002202
202018	TAPT1	Beaded ribs	HP:0000923
202018	TAPT1	Adducted thumb	HP:0001181
202018	TAPT1	Platyspondyly	HP:0000926
202018	TAPT1	Cerebellar hypoplasia	HP:0001321
202018	TAPT1	Pulmonary hypoplasia	HP:0002089
202018	TAPT1	Osteopenia	HP:0000938
202018	TAPT1	Single umbilical artery	HP:0001195
202018	TAPT1	Wide nasal bridge	HP:0000431
202018	TAPT1	Hypospadias	HP:0000047
202018	TAPT1	Cleft palate	HP:0000175
202018	TAPT1	Micropenis	HP:0000054
202018	TAPT1	Hypertelorism	HP:0000316
202018	TAPT1	Flared metaphysis	HP:0003015
202018	TAPT1	Ventriculomegaly	HP:0002119
202018	TAPT1	Anteverted nares	HP:0000463
202018	TAPT1	Flat face	HP:0012368
202018	TAPT1	Webbed neck	HP:0000465
202018	TAPT1	Prominent forehead	HP:0011220
202018	TAPT1	Wormian bones	HP:0002645
202018	TAPT1	Short neck	HP:0000470
202018	TAPT1	Large fleshy ears	HP:0002265
202018	TAPT1	Micrognathia	HP:0000347
202018	TAPT1	Flexion contracture	HP:0001371
202018	TAPT1	Ventricular septal defect	HP:0001629
202018	TAPT1	Multiple prenatal fractures	HP:0005855
202018	TAPT1	Limb undergrowth	HP:0009826
202018	TAPT1	Posteriorly rotated ears	HP:0000358
202018	TAPT1	Hypertrophic cardiomyopathy	HP:0001639
202018	TAPT1	Intrauterine growth retardation	HP:0001511
202018	TAPT1	Cardiomegaly	HP:0001640
202018	TAPT1	Decreased skull ossification	HP:0004331
202018	TAPT1	Unilateral cleft lip	HP:0100333
202018	TAPT1	Small for gestational age	HP:0001518
202018	TAPT1	Multiple rib fractures	HP:0006640
202018	TAPT1	Low-set ears	HP:0000369
202018	TAPT1	Brachycephaly	HP:0000248
202018	TAPT1	Telecanthus	HP:0000506
202018	TAPT1	Short nose	HP:0003196
202018	TAPT1	Microcephaly	HP:0000252
202018	TAPT1	Hydrops fetalis	HP:0001789
202018	TAPT1	Hydronephrosis	HP:0000126
79143	MBOAT7	Absent speech	HP:0001344
79143	MBOAT7	Delayed ability to walk	HP:0031936
79143	MBOAT7	Intellectual disability	HP:0001249
79143	MBOAT7	Hyperreflexia	HP:0001347
79143	MBOAT7	Febrile seizures	HP:0002373
79143	MBOAT7	Autosomal recessive inheritance	HP:0000007
79143	MBOAT7	Muscular hypotonia of the trunk	HP:0008936
79143	MBOAT7	Generalized hypotonia	HP:0001290
79143	MBOAT7	Generalized myoclonic seizures	HP:0002123
79143	MBOAT7	Inability to walk	HP:0002540
79143	MBOAT7	Polymicrogyria	HP:0002126
79143	MBOAT7	Global developmental delay	HP:0001263
79143	MBOAT7	Autistic behavior	HP:0000729
79143	MBOAT7	Congenital onset	HP:0003577
79143	MBOAT7	Microcephaly	HP:0000252
79143	MBOAT7	Hypertonia	HP:0001276
79143	MBOAT7	Focal-onset seizure	HP:0007359
54567	DLL4	Aplastic/hypoplastic toenail	HP:0010624
54567	DLL4	Portal hypertension	HP:0001409
54567	DLL4	Facial palsy	HP:0010628
54567	DLL4	Brachydactyly	HP:0001156
54567	DLL4	Ascites	HP:0001541
54567	DLL4	Autosomal dominant inheritance	HP:0000006
54567	DLL4	Cataract	HP:0000518
54567	DLL4	Sparse hair	HP:0008070
54567	DLL4	Syndactyly	HP:0001159
54567	DLL4	Hypoplastic toenails	HP:0001800
54567	DLL4	Absent toe	HP:0010760
54567	DLL4	Abnormality of the metacarpal bones	HP:0001163
54567	DLL4	Hypoplastic fingernail	HP:0001804
54567	DLL4	Split hand	HP:0001171
54567	DLL4	Absent fingernail	HP:0001817
54567	DLL4	Short distal phalanx of finger	HP:0009882
54567	DLL4	Aplasia cutis congenita	HP:0001057
54567	DLL4	Encephalocele	HP:0002084
54567	DLL4	Pulmonary arterial hypertension	HP:0002092
54567	DLL4	EEG abnormality	HP:0002353
54567	DLL4	Congenital hepatic fibrosis	HP:0002612
54567	DLL4	Microphthalmia	HP:0000568
54567	DLL4	Foot oligodactyly	HP:0001849
54567	DLL4	Periventricular leukomalacia	HP:0006970
54567	DLL4	Arteriovenous malformation	HP:0100026
54567	DLL4	Tricuspid regurgitation	HP:0005180
54567	DLL4	Alopecia	HP:0001596
54567	DLL4	Spinal dysraphism	HP:0010301
54567	DLL4	Gastrointestinal hemorrhage	HP:0002239
54567	DLL4	Prolonged bleeding time	HP:0003010
54567	DLL4	Cutis marmorata	HP:0000965
54567	DLL4	Pulmonary artery atresia	HP:0004935
54567	DLL4	Thrombocytopenia	HP:0001873
54567	DLL4	Calvarial skull defect	HP:0001362
54567	DLL4	Absent hand	HP:0004050
54567	DLL4	Porencephalic cyst	HP:0002132
54567	DLL4	Finger syndactyly	HP:0006101
54567	DLL4	Premature birth	HP:0001622
54567	DLL4	Congenital localized absence of skin	HP:0007383
54567	DLL4	Renal hypoplasia	HP:0000089
54567	DLL4	Aplasia cutis congenita of scalp	HP:0007385
54567	DLL4	Leukopenia	HP:0001882
54567	DLL4	Talipes	HP:0001883
54567	DLL4	Ventricular septal defect	HP:0001629
54567	DLL4	Intellectual disability	HP:0001249
54567	DLL4	Seizures	HP:0001250
54567	DLL4	Tetralogy of Fallot	HP:0001636
54567	DLL4	Failure to thrive	HP:0001508
54567	DLL4	Strabismus	HP:0000486
54567	DLL4	Skin ulcer	HP:0200042
54567	DLL4	Abnormal pulmonary valve morphology	HP:0001641
54567	DLL4	Hydrocephalus	HP:0000238
54567	DLL4	Cirrhosis	HP:0001394
54567	DLL4	Hepatic fibrosis	HP:0001395
54567	DLL4	Hemiparesis	HP:0001269
54567	DLL4	Aplasia cutis congenita over the scalp vertex	HP:0004471
54567	DLL4	Esophageal varix	HP:0002040
54567	DLL4	Abnormality of bone mineral density	HP:0004348
54567	DLL4	Truncus arteriosus	HP:0001660
54567	DLL4	Hypertonia	HP:0001276
79147	FKRP	Macrocephaly	HP:0000256
79147	FKRP	Fatty replacement of skeletal muscle	HP:0012548
79147	FKRP	Areflexia	HP:0001284
79147	FKRP	Cataract	HP:0000518
79147	FKRP	Autosomal recessive inheritance	HP:0000007
79147	FKRP	Gait disturbance	HP:0001288
79147	FKRP	Generalized hypotonia	HP:0001290
79147	FKRP	Metatarsus valgus	HP:0010508
79147	FKRP	Anophthalmia	HP:0000528
79147	FKRP	Corneal opacity	HP:0007957
79147	FKRP	Calf muscle hypertrophy	HP:0008981
79147	FKRP	Pachygyria	HP:0001302
79147	FKRP	Hemiplegia/hemiparesis	HP:0004374
79147	FKRP	Dandy-Walker malformation	HP:0001305
79147	FKRP	Cryptorchidism	HP:0000028
79147	FKRP	Retinal detachment	HP:0000541
79147	FKRP	Hypoplasia of the corpus callosum	HP:0002079
79147	FKRP	Hypoplasia of penis	HP:0008736
79147	FKRP	Myopia	HP:0000545
79147	FKRP	Occipital encephalocele	HP:0002085
79147	FKRP	Retinal dysplasia	HP:0007973
79147	FKRP	Neonatal hypotonia	HP:0001319
79147	FKRP	Cerebellar hypoplasia	HP:0001321
79147	FKRP	Left ventricular dysfunction	HP:0005162
79147	FKRP	Retinal dystrophy	HP:0000556
79147	FKRP	Muscle weakness	HP:0001324
79147	FKRP	Respiratory insufficiency	HP:0002093
79147	FKRP	Buphthalmos	HP:0000557
79147	FKRP	Cerebellar cyst	HP:0002350
79147	FKRP	Specific learning disability	HP:0001328
79147	FKRP	EEG abnormality	HP:0002353
79147	FKRP	Hypoplastic male external genitalia	HP:0000050
79147	FKRP	Difficulty walking	HP:0002355
79147	FKRP	Absent septum pellucidum	HP:0001331
79147	FKRP	Chorioretinal dysplasia	HP:0007731
79147	FKRP	Frequent falls	HP:0002359
79147	FKRP	Microphthalmia	HP:0000568
79147	FKRP	Macrogyria	HP:0007227
79147	FKRP	Hypoplasia of the brainstem	HP:0002365
79147	FKRP	Nocturnal hypoventilation	HP:0002877
79147	FKRP	Restrictive deficit on pulmonary function testing	HP:0002111
79147	FKRP	Muscle spasm	HP:0003394
79147	FKRP	Facial diplegia	HP:0001349
79147	FKRP	Ventriculomegaly	HP:0002119
79147	FKRP	Abnormality of the voice	HP:0001608
79147	FKRP	Coloboma	HP:0000589
79147	FKRP	Hypoplasia of the pons	HP:0012110
79147	FKRP	Polymicrogyria	HP:0002126
79147	FKRP	Holoprosencephaly	HP:0001360
79147	FKRP	Retinal atrophy	HP:0001105
79147	FKRP	Difficulty running	HP:0009046
79147	FKRP	Scoliosis	HP:0002650
79147	FKRP	Type II lissencephaly	HP:0007260
79147	FKRP	Optic nerve hypoplasia	HP:0000609
79147	FKRP	Iris coloboma	HP:0000612
79147	FKRP	Posteriorly rotated ears	HP:0000358
79147	FKRP	Microtia	HP:0008551
79147	FKRP	Blindness	HP:0000618
79147	FKRP	Dilated cardiomyopathy	HP:0001644
79147	FKRP	Renal dysplasia	HP:0000110
79147	FKRP	Intellectual disability, severe	HP:0010864
79147	FKRP	Abnormal aldolase level	HP:0012400
79147	FKRP	Low-set ears	HP:0000369
79147	FKRP	Exercise-induced myoglobinuria	HP:0008305
79147	FKRP	Proximal muscle weakness	HP:0003701
79147	FKRP	Neurological speech impairment	HP:0002167
79147	FKRP	Cerebellar dysplasia	HP:0007033
79147	FKRP	Posterior fossa cyst	HP:0007291
79147	FKRP	Myopathy	HP:0003198
79147	FKRP	EMG abnormality	HP:0003457
79147	FKRP	EMG: myopathic abnormalities	HP:0003458
79147	FKRP	Skeletal muscle atrophy	HP:0003202
79147	FKRP	Meningocele	HP:0002435
79147	FKRP	Vertebral fusion	HP:0002948
79147	FKRP	Facial palsy	HP:0010628
79147	FKRP	Optic atrophy	HP:0000648
79147	FKRP	Agyria	HP:0031882
79147	FKRP	Intellectual disability, profound	HP:0002187
79147	FKRP	Shoulder girdle muscle atrophy	HP:0003724
79147	FKRP	Reduced muscle fiber merosin	HP:0030092
79147	FKRP	Excessive daytime sleepiness	HP:0002189
79147	FKRP	Heterogeneous	HP:0001425
79147	FKRP	Abnormal circulating creatine kinase concentration	HP:0040081
79147	FKRP	Delayed gross motor development	HP:0002194
79147	FKRP	Toe walking	HP:0040083
79147	FKRP	Reduced muscle fiber alpha dystroglycan	HP:0030099
79147	FKRP	Peters anomaly	HP:0000659
79147	FKRP	Thigh hypertrophy	HP:0003733
79147	FKRP	Protruding ear	HP:0000411
79147	FKRP	Congenital muscular dystrophy	HP:0003741
79147	FKRP	Atresia of the external auditory canal	HP:0000413
79147	FKRP	Macroglossia	HP:0000158
79147	FKRP	Elevated serum creatine kinase	HP:0003236
79147	FKRP	Pelvic girdle muscle weakness	HP:0003749
79147	FKRP	Feeding difficulties in infancy	HP:0008872
79147	FKRP	Severe muscular hypotonia	HP:0006829
79147	FKRP	Cleft palate	HP:0000175
79147	FKRP	Left ventricular hypertrophy	HP:0001712
79147	FKRP	Submucous cleft hard palate	HP:0000176
79147	FKRP	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
79147	FKRP	Cognitive impairment	HP:0100543
79147	FKRP	Kyphoscoliosis	HP:0002751
79147	FKRP	Aplasia/Hypoplasia of the cerebellum	HP:0007360
79147	FKRP	Bifid uvula	HP:0000193
79147	FKRP	Abnormality of the cerebral white matter	HP:0002500
79147	FKRP	Cleft upper lip	HP:0000204
79147	FKRP	Waddling gait	HP:0002515
79147	FKRP	Limb-girdle muscle atrophy	HP:0003797
79147	FKRP	Proximal amyotrophy	HP:0007126
79147	FKRP	Shoulder girdle muscle weakness	HP:0003547
79147	FKRP	Difficulty climbing stairs	HP:0003551
79147	FKRP	Intellectual disability	HP:0001249
79147	FKRP	Seizures	HP:0001250
79147	FKRP	Microcornea	HP:0000482
79147	FKRP	Muscular hypotonia	HP:0001252
79147	FKRP	Megalocornea	HP:0000485
79147	FKRP	Strabismus	HP:0000486
79147	FKRP	Anal atresia	HP:0002023
79147	FKRP	Muscular dystrophy	HP:0003560
79147	FKRP	Meningoencephalocele	HP:0006888
79147	FKRP	Gray matter heterotopia	HP:0002282
79147	FKRP	Death in childhood	HP:0003819
79147	FKRP	Achilles tendon contracture	HP:0001771
79147	FKRP	Hyperlordosis	HP:0003307
79147	FKRP	Hydrocephalus	HP:0000238
79147	FKRP	Global developmental delay	HP:0001263
79147	FKRP	Abnormal lactate dehydrogenase activity	HP:0045040
79147	FKRP	Hyporeflexia	HP:0001265
79147	FKRP	Congenital contracture	HP:0002803
79147	FKRP	Variable expressivity	HP:0003828
79147	FKRP	Mildly elevated creatine kinase	HP:0008180
79147	FKRP	Glaucoma	HP:0000501
79147	FKRP	Abnormality of the Achilles tendon	HP:0005109
79147	FKRP	Motor delay	HP:0001270
79147	FKRP	Cerebellar atrophy	HP:0001272
79147	FKRP	Kyphosis	HP:0002808
79147	FKRP	Congenital onset	HP:0003577
79147	FKRP	Visual impairment	HP:0000505
79147	FKRP	Agenesis of corpus callosum	HP:0001274
79147	FKRP	Hypertonia	HP:0001276
79147	FKRP	Generalized muscle weakness	HP:0003324
79147	FKRP	Microcephaly	HP:0000252
79147	FKRP	Myalgia	HP:0003326
5420	PODXL	Akinesia	HP:0002304
5420	PODXL	Intellectual disability	HP:0001249
5420	PODXL	Pes cavus	HP:0001761
5420	PODXL	Seizures	HP:0001250
5420	PODXL	Leg muscle stiffness	HP:0008969
5420	PODXL	Inability to walk	HP:0002540
5420	PODXL	Short stepped shuffling gait	HP:0007311
5420	PODXL	Rigidity	HP:0002063
5420	PODXL	Hyporeflexia	HP:0001265
5420	PODXL	Gait ataxia	HP:0002066
5420	PODXL	Resting tremor	HP:0002322
5420	PODXL	Hypomimic face	HP:0000338
5420	PODXL	Bradykinesia	HP:0002067
5420	PODXL	Dystonia	HP:0001332
5420	PODXL	Weak voice	HP:0001621
5420	PODXL	Myoclonus	HP:0001336
5420	PODXL	Abnormal pyramidal sign	HP:0007256
5420	PODXL	Anarthria	HP:0002425
5420	PODXL	Scoliosis	HP:0002650
5420	PODXL	Fatigue	HP:0012378
5420	PODXL	Brain atrophy	HP:0012444
5420	PODXL	Postural instability	HP:0002172
5420	PODXL	Slowed slurred speech	HP:0007164
5422	POLA1	Intellectual disability	HP:0001249
5422	POLA1	Hyperkeratosis	HP:0000962
5422	POLA1	Seizures	HP:0001250
5422	POLA1	Urethral stricture	HP:0012227
5422	POLA1	Recurrent pneumonia	HP:0006532
5422	POLA1	Photophobia	HP:0000613
5422	POLA1	Hypohidrosis	HP:0000966
5422	POLA1	X-linked inheritance	HP:0001417
5422	POLA1	X-linked recessive inheritance	HP:0001419
5422	POLA1	Corneal scarring	HP:0000559
5422	POLA1	Opacification of the corneal stroma	HP:0007759
5422	POLA1	Generalized reticulate brown pigmentation	HP:0007599
5422	POLA1	Global developmental delay	HP:0001263
5422	POLA1	Abnormality of metabolism/homeostasis	HP:0001939
5422	POLA1	Inguinal hernia	HP:0000023
5422	POLA1	Colitis	HP:0002583
5422	POLA1	Visual impairment	HP:0000505
5422	POLA1	Amyloidosis	HP:0011034
5422	POLA1	Failure to thrive in infancy	HP:0001531
5422	POLA1	Visual loss	HP:0000572
5422	POLA1	Hemiplegia	HP:0002301
5422	POLA1	Broad eyebrow	HP:0011229
5422	POLA1	Recurrent infection of the gastrointestinal tract	HP:0004798
5422	POLA1	Diarrhea	HP:0002014
5424	POLD1	Hepatomegaly	HP:0002240
5424	POLD1	Autosomal dominant inheritance	HP:0000006
5424	POLD1	Lack of skin elasticity	HP:0100679
5424	POLD1	Hypogonadism	HP:0000135
5424	POLD1	Proptosis	HP:0000520
5424	POLD1	Endometrial carcinoma	HP:0012114
5424	POLD1	High pitched voice	HP:0001620
5424	POLD1	Adenocarcinoma of the colon	HP:0040276
5424	POLD1	Sensorineural hearing impairment	HP:0000407
5424	POLD1	Insulin resistance	HP:0000855
5424	POLD1	Scoliosis	HP:0002650
5424	POLD1	Micrognathia	HP:0000347
5424	POLD1	Flexion contracture	HP:0001371
5424	POLD1	Cryptorchidism	HP:0000028
5424	POLD1	Elevated hepatic transaminase	HP:0002910
5424	POLD1	Narrow mouth	HP:0000160
5424	POLD1	Brain neoplasm	HP:0030692
5424	POLD1	Scleroderma	HP:0100324
5424	POLD1	Lipodystrophy	HP:0009125
5424	POLD1	Dental crowding	HP:0000678
5424	POLD1	Osteoporosis	HP:0000939
5424	POLD1	Hypertriglyceridemia	HP:0002155
5424	POLD1	Adenomatous colonic polyposis	HP:0005227
5424	POLD1	Dermal atrophy	HP:0004334
5424	POLD1	Telangiectasia	HP:0001009
5424	POLD1	Diabetes mellitus	HP:0000819
5424	POLD1	Hepatic steatosis	HP:0001397
5424	POLD1	Kyphosis	HP:0002808
5424	POLD1	Breast carcinoma	HP:0003002
5424	POLD1	Convex nasal ridge	HP:0000444
5424	POLD1	Colorectal polyposis	HP:0200063
79152	FA2H	Dysmyelinating leukodystrophy	HP:0006978
79152	FA2H	Foot dorsiflexor weakness	HP:0009027
79152	FA2H	Neurodegeneration	HP:0002180
79152	FA2H	Spastic tetraparesis	HP:0001285
79152	FA2H	Iron accumulation in globus pallidus	HP:0012677
79152	FA2H	Atrophy/Degeneration affecting the brainstem	HP:0007366
79152	FA2H	Autosomal recessive inheritance	HP:0000007
79152	FA2H	Optic atrophy	HP:0000648
79152	FA2H	Cerebral cortical atrophy	HP:0002120
79152	FA2H	Spastic paraparesis	HP:0002313
79152	FA2H	Corpus callosum atrophy	HP:0007371
79152	FA2H	Urinary urgency	HP:0000012
79152	FA2H	Lower limb spasticity	HP:0002061
79152	FA2H	Oculomotor apraxia	HP:0000657
79152	FA2H	Neck muscle weakness	HP:0000467
79152	FA2H	Urinary incontinence	HP:0000020
79152	FA2H	Abnormality of the periventricular white matter	HP:0002518
79152	FA2H	Positional foot deformity	HP:0005656
79152	FA2H	Peripheral demyelination	HP:0011096
79152	FA2H	Ophthalmoplegia	HP:0000602
79152	FA2H	Dysdiadochokinesis	HP:0002075
79152	FA2H	Progressive	HP:0003676
79152	FA2H	Generalized dystonia	HP:0007325
79152	FA2H	Dysmetria	HP:0001310
79152	FA2H	Babinski sign	HP:0003487
79152	FA2H	Hypoplasia of the corpus callosum	HP:0002079
79152	FA2H	Pontocerebellar atrophy	HP:0006879
79152	FA2H	External ophthalmoplegia	HP:0000544
79152	FA2H	Intellectual disability	HP:0001249
79152	FA2H	Seizures	HP:0001250
79152	FA2H	Pollakisuria	HP:0100515
79152	FA2H	Strabismus	HP:0000486
79152	FA2H	Spastic paraplegia	HP:0001258
79152	FA2H	Mask-like facies	HP:0000298
79152	FA2H	Dysarthria	HP:0001260
79152	FA2H	Bowel incontinence	HP:0002607
79152	FA2H	Lower limb hypertonia	HP:0006895
79152	FA2H	Difficulty walking	HP:0002355
79152	FA2H	Mental deterioration	HP:0001268
79152	FA2H	Dystonia	HP:0001332
79152	FA2H	Enuresis nocturna	HP:0010677
79152	FA2H	Frequent falls	HP:0002359
79152	FA2H	Cerebellar atrophy	HP:0001272
79152	FA2H	Ankle clonus	HP:0011448
79152	FA2H	Kyphosis	HP:0002808
79152	FA2H	Nystagmus	HP:0000639
5426	POLE	Immunodeficiency	HP:0002721
5426	POLE	Short stature	HP:0004322
5426	POLE	Relative macrocephaly	HP:0004482
5426	POLE	Brain neoplasm	HP:0030692
5426	POLE	Autosomal recessive inheritance	HP:0000007
5426	POLE	Adenomatous colonic polyposis	HP:0005227
5426	POLE	Abnormal facial shape	HP:0001999
5426	POLE	Malar flattening	HP:0000272
5426	POLE	Broad forehead	HP:0000337
5426	POLE	Endometrial carcinoma	HP:0012114
5426	POLE	Adenocarcinoma of the colon	HP:0040276
5426	POLE	Congenital onset	HP:0003577
5426	POLE	Breast carcinoma	HP:0003002
5426	POLE	Colorectal polyposis	HP:0200063
5426	POLE	Recurrent respiratory infections	HP:0002205
5426	POLE	Bone pain	HP:0002653
5426	POLE	Telangiectases of the cheeks	HP:0007421
5428	POLG	Cataract	HP:0000518
5428	POLG	Autosomal dominant inheritance	HP:0000006
5428	POLG	Autosomal recessive inheritance	HP:0000007
5428	POLG	Infantile onset	HP:0003593
5428	POLG	Cerebral atrophy	HP:0002059
5428	POLG	Rigidity	HP:0002063
5428	POLG	Premature ovarian insufficiency	HP:0008209
5428	POLG	Nocturia	HP:0000017
5428	POLG	Gastroparesis	HP:0002578
5428	POLG	Gait ataxia	HP:0002066
5428	POLG	Bradykinesia	HP:0002067
5428	POLG	Gastrointestinal dysmotility	HP:0002579
5428	POLG	Generalized tonic-clonic seizures	HP:0002069
5428	POLG	Limb ataxia	HP:0002070
5428	POLG	Migraine	HP:0002076
5428	POLG	Testicular atrophy	HP:0000029
5428	POLG	Hand muscle weakness	HP:0030237
5428	POLG	External ophthalmoplegia	HP:0000544
5428	POLG	Hypogonadotrophic hypogonadism	HP:0000044
5428	POLG	Respiratory insufficiency	HP:0002093
5428	POLG	Epilepsia partialis continua	HP:0012847
5428	POLG	Small intestinal dysmotility	HP:0012850
5428	POLG	Lactic acidosis	HP:0003128
5428	POLG	Visual loss	HP:0000572
5428	POLG	Atrophic muscularis propria	HP:0025149
5428	POLG	Progressive gait ataxia	HP:0007240
5428	POLG	Progressive external ophthalmoplegia	HP:0000590
5428	POLG	Dysphonia	HP:0001618
5428	POLG	Status epilepticus	HP:0002133
5428	POLG	Weak voice	HP:0001621
5428	POLG	Ophthalmoparesis	HP:0000597
5428	POLG	Fatigue	HP:0012378
5428	POLG	Ophthalmoplegia	HP:0000602
5428	POLG	Progressive	HP:0003676
5428	POLG	Rapidly progressive	HP:0003678
5428	POLG	Mitral valve prolapse	HP:0001634
5428	POLG	Cardiomyopathy	HP:0001638
5428	POLG	Increased serum lactate	HP:0002151
5428	POLG	Cytochrome C oxidase-negative muscle fibers	HP:0003688
5428	POLG	Multiple mitochondrial DNA deletions	HP:0003689
5428	POLG	Limb muscle weakness	HP:0003690
5428	POLG	Blindness	HP:0000618
5428	POLG	Scapular winging	HP:0003691
5428	POLG	Dilated cardiomyopathy	HP:0001644
5428	POLG	Distal amyotrophy	HP:0003693
5428	POLG	Generalized amyotrophy	HP:0003700
5428	POLG	Proximal muscle weakness	HP:0003701
5428	POLG	Mitral regurgitation	HP:0001653
5428	POLG	Gliosis	HP:0002171
5428	POLG	Myopathy	HP:0003198
5428	POLG	Nystagmus	HP:0000639
5428	POLG	Decreased muscle mass	HP:0003199
5428	POLG	Ragged-red muscle fibers	HP:0003200
5428	POLG	Muscle fiber necrosis	HP:0003713
5428	POLG	Rhabdomyolysis	HP:0003201
5428	POLG	Skeletal muscle atrophy	HP:0003202
5428	POLG	Abnormality of the hand	HP:0001155
5428	POLG	Bipolar affective disorder	HP:0007302
5428	POLG	Optic atrophy	HP:0000648
5428	POLG	Intestinal perforation	HP:0031368
5428	POLG	Abnormality of visual evoked potentials	HP:0000649
5428	POLG	Progressive spasticity	HP:0002191
5428	POLG	Ethylmalonic aciduria	HP:0003219
5428	POLG	Quadriceps muscle weakness	HP:0003731
5428	POLG	Mitochondrial myopathy	HP:0003737
5428	POLG	Elevated serum creatine kinase	HP:0003236
5428	POLG	Atrophy/Degeneration involving the spinal cord	HP:0007344
5428	POLG	Left ventricular hypertrophy	HP:0001712
5428	POLG	Respiratory insufficiency due to muscle weakness	HP:0002747
5428	POLG	Cognitive impairment	HP:0100543
5428	POLG	Abnormal morphology of the cerebellar cortex	HP:0031422
5428	POLG	Focal-onset seizure	HP:0007359
5428	POLG	Hepatomegaly	HP:0002240
5428	POLG	Behavioral abnormality	HP:0000708
5428	POLG	Abdominal distention	HP:0003270
5428	POLG	Emotional lability	HP:0000712
5428	POLG	Impaired distal proprioception	HP:0006858
5428	POLG	Depressivity	HP:0000716
5428	POLG	Intermittent diarrhea	HP:0002254
5428	POLG	Ventricular arrhythmia	HP:0004308
5428	POLG	Dementia	HP:0000726
5428	POLG	Vestibular dysfunction	HP:0001751
5428	POLG	Pes cavus	HP:0001761
5428	POLG	Intellectual disability	HP:0001249
5428	POLG	Seizures	HP:0001250
5428	POLG	Ataxia	HP:0001251
5428	POLG	Anxiety	HP:0000739
5428	POLG	Muscular hypotonia	HP:0001252
5428	POLG	Impaired distal vibration sensation	HP:0006886
5428	POLG	Cachexia	HP:0004326
5428	POLG	Lethargy	HP:0001254
5428	POLG	Coma	HP:0001259
5428	POLG	Dysarthria	HP:0001260
5428	POLG	Global developmental delay	HP:0001263
5428	POLG	Hyporeflexia	HP:0001265
5428	POLG	Choreoathetosis	HP:0001266
5428	POLG	Diminished ability to concentrate	HP:0031987
5428	POLG	Upgaze palsy	HP:0025331
5428	POLG	Variable expressivity	HP:0003828
5428	POLG	Cerebellar atrophy	HP:0001272
5428	POLG	Progressive muscle weakness	HP:0003323
5428	POLG	Hypertonia	HP:0001276
5428	POLG	Microcephaly	HP:0000252
5428	POLG	Generalized muscle weakness	HP:0003324
5428	POLG	Myalgia	HP:0003326
5428	POLG	Areflexia	HP:0001284
5428	POLG	Death in early adulthood	HP:0100613
5428	POLG	Gait disturbance	HP:0001288
5428	POLG	Spastic paraparesis	HP:0002313
5428	POLG	Generalized hypotonia	HP:0001290
5428	POLG	Headache	HP:0002315
5428	POLG	Primary amenorrhea	HP:0000786
5428	POLG	Resting tremor	HP:0002322
5428	POLG	Hyperalaninemia	HP:0003348
5428	POLG	Parkinsonism	HP:0001300
5428	POLG	Intestinal pseudo-obstruction	HP:0004389
5428	POLG	Action tremor	HP:0002345
5428	POLG	Mask-like facies	HP:0000298
5428	POLG	Malnutrition	HP:0004395
5428	POLG	Optic neuritis	HP:0100653
5428	POLG	Poor appetite	HP:0004396
5428	POLG	Hypergonadotropic hypogonadism	HP:0000815
5428	POLG	Abnormality of central motor conduction	HP:0012079
5428	POLG	Leukoencephalopathy	HP:0002352
5428	POLG	Steppage gait	HP:0003376
5428	POLG	Memory impairment	HP:0002354
5428	POLG	Diabetes mellitus	HP:0000819
5428	POLG	Cerebral cortical neurodegeneration	HP:0006964
5428	POLG	Hypothyroidism	HP:0000821
5428	POLG	Frequent falls	HP:0002359
5428	POLG	Myoclonus	HP:0001336
5428	POLG	Shuffling gait	HP:0002362
5428	POLG	Stooped posture	HP:0025403
5428	POLG	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
5428	POLG	Exertional dyspnea	HP:0002875
5428	POLG	Easy fatigability	HP:0003388
5428	POLG	Sensory axonal neuropathy	HP:0003390
5428	POLG	Muscle spasm	HP:0003394
5428	POLG	Foot dorsiflexor weakness	HP:0009027
5428	POLG	Hyperthyroidism	HP:0000836
5428	POLG	Facial diplegia	HP:0001349
5428	POLG	Abnormality of the mitochondrion	HP:0012103
5428	POLG	Hypokinesia	HP:0002375
5428	POLG	Developmental regression	HP:0002376
5428	POLG	Paresthesia	HP:0003401
5428	POLG	Hypomimic face	HP:0000338
5428	POLG	Goiter	HP:0000853
5428	POLG	Cogwheel rigidity	HP:0002396
5428	POLG	Elevated hepatic transaminase	HP:0002910
5428	POLG	Cerebral visual impairment	HP:0100704
5428	POLG	Positive Romberg sign	HP:0002403
5428	POLG	Secondary amenorrhea	HP:0000869
5428	POLG	Limb dysmetria	HP:0002406
5428	POLG	Decreased motor nerve conduction velocity	HP:0003431
5428	POLG	Hashimoto thyroiditis	HP:0000872
5428	POLG	Abnormality of the cerebrospinal fluid	HP:0002921
5428	POLG	Increased CSF protein	HP:0002922
5428	POLG	Sensory ataxic neuropathy	HP:0003434
5428	POLG	Hearing impairment	HP:0000365
5428	POLG	Absent Achilles reflex	HP:0003438
5428	POLG	Anemia	HP:0001903
5428	POLG	Abnormality of the extraocular muscles	HP:0008049
5428	POLG	Cirrhosis	HP:0001394
5428	POLG	Abnormal cell morphology	HP:0025461
5428	POLG	Hepatic failure	HP:0001399
5428	POLG	Distal sensory impairment	HP:0002936
5428	POLG	Decreased sensory nerve conduction velocity	HP:0003448
5428	POLG	Reduced ejection fraction	HP:0012664
5428	POLG	Macrovesicular hepatic steatosis	HP:0001403
5428	POLG	Bile duct proliferation	HP:0001408
5428	POLG	EMG: myopathic abnormalities	HP:0003458
5428	POLG	Focal white matter lesions	HP:0007042
5428	POLG	Facial palsy	HP:0010628
5428	POLG	Micronodular cirrhosis	HP:0001413
5428	POLG	Microvesicular hepatic steatosis	HP:0001414
5428	POLG	Paralysis	HP:0003470
5428	POLG	Astrocytosis	HP:0002446
5428	POLG	Heterogeneous	HP:0001425
5428	POLG	Peripheral axonal neuropathy	HP:0003477
5428	POLG	Sensorineural hearing impairment	HP:0000407
5428	POLG	Abnormal thalamic MRI signal intensity	HP:0012696
5428	POLG	Ketosis	HP:0001946
5428	POLG	Distal muscle weakness	HP:0002460
5428	POLG	Palpitations	HP:0001962
5428	POLG	Bilateral sensorineural hearing impairment	HP:0008619
5428	POLG	Osteoporosis	HP:0000939
5428	POLG	Impaired vibratory sensation	HP:0002495
5428	POLG	Hypointensity of cerebral white matter on MRI	HP:0007103
5428	POLG	Abnormality of the cerebral white matter	HP:0002500
5428	POLG	Demyelinating peripheral neuropathy	HP:0007108
5428	POLG	Muscle fiber atrophy	HP:0100295
5428	POLG	Edema	HP:0000969
5428	POLG	3-Methylglutaconic aciduria	HP:0003535
5428	POLG	Increased serum pyruvate	HP:0003542
5428	POLG	Dyschromatopsia	HP:0007641
5428	POLG	Exercise intolerance	HP:0003546
5428	POLG	Shoulder girdle muscle weakness	HP:0003547
5428	POLG	ST segment elevation	HP:0012251
5428	POLG	Subsarcolemmal accumulations of abnormally shaped mitochondria	HP:0003548
5428	POLG	Vomiting	HP:0002013
5428	POLG	Diarrhea	HP:0002014
5428	POLG	Dysphagia	HP:0002015
5428	POLG	Abnormal retinal morphology	HP:0000479
5428	POLG	Difficulty climbing stairs	HP:0003551
5428	POLG	Muscle stiffness	HP:0003552
5428	POLG	Neuronal loss in central nervous system	HP:0002529
5428	POLG	Nausea	HP:0002018
5428	POLG	Constipation	HP:0002019
5428	POLG	Failure to thrive	HP:0001508
5428	POLG	Gastroesophageal reflux	HP:0002020
5428	POLG	Increased variability in muscle fiber diameter	HP:0003557
5428	POLG	Sensorimotor neuropathy	HP:0007141
5428	POLG	Malabsorption	HP:0002024
5428	POLG	Abdominal pain	HP:0002027
5428	POLG	Mildly elevated creatine kinase	HP:0008180
5428	POLG	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
5428	POLG	Atrial fibrillation	HP:0005110
5428	POLG	Visual impairment	HP:0000505
5428	POLG	Ptosis	HP:0000508
5428	POLG	Adult onset	HP:0003581
5428	POLG	Slender build	HP:0001533
5429	POLH	Cutaneous photosensitivity	HP:0000992
5429	POLH	Poikiloderma	HP:0001029
5429	POLH	Photophobia	HP:0000613
5429	POLH	Autosomal recessive inheritance	HP:0000007
5429	POLH	Keratitis	HP:0000491
5429	POLH	Squamous cell carcinoma	HP:0002860
5429	POLH	Entropion	HP:0000621
5429	POLH	Melanoma	HP:0002861
5429	POLH	Dermal atrophy	HP:0004334
5429	POLH	Basal cell carcinoma	HP:0002671
5429	POLH	Ectropion	HP:0000656
5429	POLH	Telangiectasia	HP:0001009
5429	POLH	Hypopigmentation of the skin	HP:0001010
5429	POLH	Freckles in sun-exposed areas	HP:0007603
5429	POLH	Cutaneous melanoma	HP:0012056
5429	POLH	Conjunctivitis	HP:0000509
5429	POLH	Dry skin	HP:0000958
79158	GNPTAB	Umbilical hernia	HP:0001537
79158	GNPTAB	Protuberant abdomen	HP:0001538
79158	GNPTAB	Large sella turcica	HP:0002690
79158	GNPTAB	Recurrent pneumonia	HP:0006532
79158	GNPTAB	Progressive alveolar ridge hypertropy	HP:0009092
79158	GNPTAB	Diastasis recti	HP:0001540
79158	GNPTAB	Short ribs	HP:0000773
79158	GNPTAB	Increased serum beta-hexosaminidase	HP:0003333
79158	GNPTAB	Autosomal recessive inheritance	HP:0000007
79158	GNPTAB	Abnormality of the rib cage	HP:0001547
79158	GNPTAB	Hip dislocation	HP:0002827
79158	GNPTAB	Irregular carpal bones	HP:0004236
79158	GNPTAB	Soft tissue swelling of interphalangeal joints	HP:0006162
79158	GNPTAB	Severe postnatal growth retardation	HP:0008850
79158	GNPTAB	Split hand	HP:0001171
79158	GNPTAB	Recurrent otitis media	HP:0000403
79158	GNPTAB	Myelopathy	HP:0002196
79158	GNPTAB	Recurrent bronchitis	HP:0002837
79158	GNPTAB	Lower thoracic interpediculate narrowness	HP:0008470
79158	GNPTAB	Sparse and thin eyebrow	HP:0000535
79158	GNPTAB	Inguinal hernia	HP:0000023
79158	GNPTAB	Coarse facial features	HP:0000280
79158	GNPTAB	Cavernous hemangioma	HP:0001048
79158	GNPTAB	Constrictive median neuropathy	HP:0012185
79158	GNPTAB	Recurrent respiratory infections	HP:0002205
79158	GNPTAB	Macroglossia	HP:0000158
79158	GNPTAB	Epicanthus	HP:0000286
79158	GNPTAB	Depressed nasal bridge	HP:0005280
79158	GNPTAB	Weight loss	HP:0001824
79158	GNPTAB	Retinal degeneration	HP:0000546
79158	GNPTAB	Neonatal hypotonia	HP:0001319
79158	GNPTAB	Bullet-shaped phalanges of the hand	HP:0009769
79158	GNPTAB	Osteopenia	HP:0000938
79158	GNPTAB	Dysostosis multiplex	HP:0000943
79158	GNPTAB	Mandibular prognathia	HP:0000303
79158	GNPTAB	Thickened skin	HP:0001072
79158	GNPTAB	Specific learning disability	HP:0001328
79158	GNPTAB	Flared iliac wings	HP:0002869
79158	GNPTAB	Generalized hirsutism	HP:0002230
79158	GNPTAB	Hernia	HP:0100790
79158	GNPTAB	Broad alveolar ridges	HP:0000187
79158	GNPTAB	Palpebral edema	HP:0100540
79158	GNPTAB	Deficiency of N-acetylglucosamine-1-phosphotransferase	HP:0003264
79158	GNPTAB	Hepatomegaly	HP:0002240
79158	GNPTAB	Thin skin	HP:0000963
79158	GNPTAB	Pathologic fracture	HP:0002756
79158	GNPTAB	Heart murmur	HP:0030148
79158	GNPTAB	Lack of skin elasticity	HP:0100679
79158	GNPTAB	Metaphyseal widening	HP:0003016
79158	GNPTAB	Hoarse voice	HP:0001609
79158	GNPTAB	Opacification of the corneal stroma	HP:0007759
79158	GNPTAB	Anteverted nares	HP:0000463
79158	GNPTAB	Severe global developmental delay	HP:0011344
79158	GNPTAB	Splenomegaly	HP:0001744
79158	GNPTAB	Increased serum iduronate sulfatase activity	HP:0003538
79158	GNPTAB	Short long bone	HP:0003026
79158	GNPTAB	Wide intermamillary distance	HP:0006610
79158	GNPTAB	Beaking of vertebral bodies T12-L3	HP:0004562
79158	GNPTAB	Craniosynostosis	HP:0001363
79158	GNPTAB	Narrow forehead	HP:0000341
79158	GNPTAB	Atlantoaxial dislocation	HP:0003414
79158	GNPTAB	Long philtrum	HP:0000343
79158	GNPTAB	Corneal erosion	HP:0200020
79158	GNPTAB	Carpal bone hypoplasia	HP:0001498
79158	GNPTAB	Scoliosis	HP:0002650
79158	GNPTAB	Varus deformity of humeral neck	HP:0006362
79158	GNPTAB	Mucopolysacchariduria	HP:0008155
79158	GNPTAB	High forehead	HP:0000348
79158	GNPTAB	Thoracolumbar kyphoscoliosis	HP:0003423
79158	GNPTAB	Abnormality of nervous system morphology	HP:0012639
79158	GNPTAB	Intellectual disability	HP:0001249
79158	GNPTAB	Short stature	HP:0004322
79158	GNPTAB	Talipes equinovarus	HP:0001762
79158	GNPTAB	Congestive heart failure	HP:0001635
79158	GNPTAB	Hyperopic astigmatism	HP:0000484
79158	GNPTAB	Ovoid vertebral bodies	HP:0003300
79158	GNPTAB	Failure to thrive	HP:0001508
79158	GNPTAB	Megalocornea	HP:0000485
79158	GNPTAB	Hypertrophic cardiomyopathy	HP:0001639
79158	GNPTAB	Retinopathy	HP:0000488
79158	GNPTAB	Cardiomegaly	HP:0001640
79158	GNPTAB	Death in childhood	HP:0003819
79158	GNPTAB	Corneal dystrophy	HP:0001131
79158	GNPTAB	Flat acetabular roof	HP:0003180
79158	GNPTAB	Shallow acetabular fossae	HP:0003182
79158	GNPTAB	Global developmental delay	HP:0001263
79158	GNPTAB	Hypoplasia of the odontoid process	HP:0003311
79158	GNPTAB	Hypoplastic scapulae	HP:0000882
79158	GNPTAB	Broad ribs	HP:0000885
79158	GNPTAB	Abnormal heart valve morphology	HP:0001654
79158	GNPTAB	J-shaped sella turcica	HP:0002680
79158	GNPTAB	Kyphosis	HP:0002808
79158	GNPTAB	Aortic regurgitation	HP:0001659
79158	GNPTAB	Thickened calvaria	HP:0002684
79158	GNPTAB	Abnormality of the thorax	HP:0000765
54583	EGLN1	Autosomal dominant inheritance	HP:0000006
54583	EGLN1	Increased red blood cell mass	HP:0001898
54583	EGLN1	Increased hematocrit	HP:0001899
54583	EGLN1	Increased hemoglobin	HP:0001900
30008	EFEMP2	Autosomal recessive inheritance	HP:0000007
30008	EFEMP2	Prominence of the premaxilla	HP:0010759
30008	EFEMP2	Proptosis	HP:0000520
30008	EFEMP2	Congenital diaphragmatic hernia	HP:0000776
30008	EFEMP2	Generalized hypotonia	HP:0001290
30008	EFEMP2	Recurrent urinary tract infections	HP:0000010
30008	EFEMP2	Overgrowth	HP:0001548
30008	EFEMP2	Renal diverticulum	HP:0100877
30008	EFEMP2	Arachnodactyly	HP:0001166
30008	EFEMP2	Delayed cranial suture closure	HP:0000270
30008	EFEMP2	Bladder diverticulum	HP:0000015
30008	EFEMP2	Atelectasis	HP:0100750
30008	EFEMP2	Inguinal hernia	HP:0000023
30008	EFEMP2	Oligohydramnios	HP:0001562
30008	EFEMP2	Arrhythmia	HP:0011675
30008	EFEMP2	Bulbous nose	HP:0000414
30008	EFEMP2	Depressed nasal bridge	HP:0005280
30008	EFEMP2	Ileus	HP:0002595
30008	EFEMP2	Full cheeks	HP:0000293
30008	EFEMP2	Osteoporosis	HP:0000939
30008	EFEMP2	Redundant skin	HP:0001582
30008	EFEMP2	Emphysema	HP:0002097
30008	EFEMP2	Respiratory distress	HP:0002098
30008	EFEMP2	Hypothyroidism	HP:0000821
30008	EFEMP2	Convex nasal ridge	HP:0000444
30008	EFEMP2	Hypertelorism	HP:0000316
30008	EFEMP2	Joint hyperflexibility	HP:0005692
30008	EFEMP2	Arterial stenosis	HP:0100545
30008	EFEMP2	Arterial fibromuscular dysplasia	HP:0005313
30008	EFEMP2	Recurrent fractures	HP:0002757
30008	EFEMP2	Premature skin wrinkling	HP:0100678
30008	EFEMP2	Pulmonary artery aneurysm	HP:0004937
30008	EFEMP2	Pulmonary insufficiency	HP:0010444
30008	EFEMP2	Vesicoureteral reflux	HP:0000076
30008	EFEMP2	Cutis laxa	HP:0000973
30008	EFEMP2	Aortic aneurysm	HP:0004942
30008	EFEMP2	Soft skin	HP:0000977
30008	EFEMP2	Prominent forehead	HP:0011220
30008	EFEMP2	Wormian bones	HP:0002645
30008	EFEMP2	High palate	HP:0000218
30008	EFEMP2	Generalized arterial tortuosity	HP:0004955
30008	EFEMP2	Micrognathia	HP:0000347
30008	EFEMP2	Narrow palpebral fissure	HP:0045025
30008	EFEMP2	Congestive heart failure	HP:0001635
30008	EFEMP2	Joint hypermobility	HP:0001382
30008	EFEMP2	Bowel diverticulosis	HP:0005222
30008	EFEMP2	Pulmonic stenosis	HP:0001642
30008	EFEMP2	Downslanted palpebral fissures	HP:0000494
30008	EFEMP2	Low-set ears	HP:0000369
30008	EFEMP2	Abnormality of the pinna	HP:0000377
30008	EFEMP2	Microcephaly	HP:0000252
30008	EFEMP2	Ptosis	HP:0000508
30008	EFEMP2	Bradycardia	HP:0001662
30008	EFEMP2	Pectus excavatum	HP:0000767
54585	LZTFL1	Abnormal electroretinogram	HP:0000512
54585	LZTFL1	Skeletal muscle atrophy	HP:0003202
54585	LZTFL1	Multicystic kidney dysplasia	HP:0000003
54585	LZTFL1	Brachydactyly	HP:0001156
54585	LZTFL1	Pigmentary retinopathy	HP:0000580
54585	LZTFL1	Hypogonadism	HP:0000135
54585	LZTFL1	Autosomal recessive inheritance	HP:0000007
54585	LZTFL1	Postaxial hand polydactyly	HP:0001162
54585	LZTFL1	Hypoplasia of the ovary	HP:0008724
54585	LZTFL1	Finger syndactyly	HP:0006101
54585	LZTFL1	Short neck	HP:0000470
54585	LZTFL1	Cryptorchidism	HP:0000028
54585	LZTFL1	Situs inversus totalis	HP:0001696
54585	LZTFL1	Hypoplasia of penis	HP:0008736
54585	LZTFL1	Intellectual disability	HP:0001249
54585	LZTFL1	Retinal degeneration	HP:0000546
54585	LZTFL1	Short stature	HP:0004322
54585	LZTFL1	Cone/cone-rod dystrophy	HP:0000548
54585	LZTFL1	Nephrotic syndrome	HP:0000100
54585	LZTFL1	Mesoaxial polydactyly	HP:0100260
54585	LZTFL1	External genital hypoplasia	HP:0003241
54585	LZTFL1	Obesity	HP:0001513
54585	LZTFL1	Prominent nasal bridge	HP:0000426
54585	LZTFL1	Renal cyst	HP:0000107
54585	LZTFL1	Hearing impairment	HP:0000365
54585	LZTFL1	Downslanted palpebral fissures	HP:0000494
54585	LZTFL1	Global developmental delay	HP:0001263
54585	LZTFL1	Low-set, posteriorly rotated ears	HP:0000368
54585	LZTFL1	Hepatic fibrosis	HP:0001395
54585	LZTFL1	Hypertension	HP:0000822
54585	LZTFL1	Generalized hirsutism	HP:0002230
54585	LZTFL1	Neurological speech impairment	HP:0002167
54585	LZTFL1	Medial flaring of the eyebrow	HP:0010747
54585	LZTFL1	Stage 5 chronic kidney disease	HP:0003774
54585	LZTFL1	Cognitive impairment	HP:0100543
54585	LZTFL1	Nystagmus	HP:0000639
30009	TBX21	Asthma	HP:0002099
30009	TBX21	Nasal polyposis	HP:0100582
30009	TBX21	Autosomal recessive inheritance	HP:0000007
30009	TBX21	Aspirin-induced asthma	HP:0012042
5443	POMC	Adrenal hypoplasia	HP:0000835
5443	POMC	Adrenocorticotropic hormone deficiency	HP:0011748
5443	POMC	Failure to thrive	HP:0001508
5443	POMC	Increased adipose tissue	HP:0009126
5443	POMC	Autosomal recessive inheritance	HP:0000007
5443	POMC	Obesity	HP:0001513
5443	POMC	Infantile onset	HP:0003593
5443	POMC	Hyperinsulinemia	HP:0000842
5443	POMC	Adrenal insufficiency	HP:0000846
5443	POMC	Hypopigmentation of the skin	HP:0001010
5443	POMC	Childhood-onset truncal obesity	HP:0008915
5443	POMC	Cholestasis	HP:0001396
5443	POMC	Gonadotropin deficiency	HP:0008213
5443	POMC	Pituitary hypothyroidism	HP:0008245
5443	POMC	Central adrenal insufficiency	HP:0011734
5443	POMC	Delayed puberty	HP:0000823
5443	POMC	Growth hormone deficiency	HP:0000824
5443	POMC	Hyperbilirubinemia	HP:0002904
5443	POMC	Red hair	HP:0002297
5443	POMC	Acanthosis nigricans	HP:0000956
5443	POMC	Hypoglycemic seizures	HP:0002173
5443	POMC	Delayed skeletal maturation	HP:0002750
5443	POMC	Polyphagia	HP:0002591
5444	PON1	Nausea and vomiting	HP:0002017
5444	PON1	Skeletal muscle atrophy	HP:0003202
5444	PON1	Muscle spasm	HP:0003394
5444	PON1	Anxiety	HP:0000739
5444	PON1	Neurodegeneration	HP:0002180
5444	PON1	Emotional lability	HP:0000712
5444	PON1	Spasticity	HP:0001257
5444	PON1	Agitation	HP:0000713
5444	PON1	Depressivity	HP:0000716
5444	PON1	Paralysis	HP:0003470
5444	PON1	Dyspnea	HP:0002094
5444	PON1	Laryngospasm	HP:0025425
5444	PON1	Fatigable weakness of swallowing muscles	HP:0030195
5444	PON1	Pain	HP:0012531
5444	PON1	Fatigable weakness of respiratory muscles	HP:0030196
5444	PON1	Xerostomia	HP:0000217
5444	PON1	Amyotrophic lateral sclerosis	HP:0007354
5444	PON1	Fatigue	HP:0012378
5444	PON1	Generalized muscle weakness	HP:0003324
5444	PON1	Respiratory failure	HP:0002878
5445	PON2	Nausea and vomiting	HP:0002017
5445	PON2	Skeletal muscle atrophy	HP:0003202
5445	PON2	Muscle spasm	HP:0003394
5445	PON2	Anxiety	HP:0000739
5445	PON2	Neurodegeneration	HP:0002180
5445	PON2	Emotional lability	HP:0000712
5445	PON2	Spasticity	HP:0001257
5445	PON2	Agitation	HP:0000713
5445	PON2	Depressivity	HP:0000716
5445	PON2	Paralysis	HP:0003470
5445	PON2	Dyspnea	HP:0002094
5445	PON2	Laryngospasm	HP:0025425
5445	PON2	Fatigable weakness of swallowing muscles	HP:0030195
5445	PON2	Pain	HP:0012531
5445	PON2	Fatigable weakness of respiratory muscles	HP:0030196
5445	PON2	Xerostomia	HP:0000217
5445	PON2	Amyotrophic lateral sclerosis	HP:0007354
5445	PON2	Fatigue	HP:0012378
5445	PON2	Generalized muscle weakness	HP:0003324
5445	PON2	Respiratory failure	HP:0002878
5446	PON3	Nausea and vomiting	HP:0002017
5446	PON3	Skeletal muscle atrophy	HP:0003202
5446	PON3	Muscle spasm	HP:0003394
5446	PON3	Anxiety	HP:0000739
5446	PON3	Neurodegeneration	HP:0002180
5446	PON3	Emotional lability	HP:0000712
5446	PON3	Spasticity	HP:0001257
5446	PON3	Agitation	HP:0000713
5446	PON3	Depressivity	HP:0000716
5446	PON3	Paralysis	HP:0003470
5446	PON3	Dyspnea	HP:0002094
5446	PON3	Laryngospasm	HP:0025425
5446	PON3	Fatigable weakness of swallowing muscles	HP:0030195
5446	PON3	Pain	HP:0012531
5446	PON3	Fatigable weakness of respiratory muscles	HP:0030196
5446	PON3	Xerostomia	HP:0000217
5446	PON3	Amyotrophic lateral sclerosis	HP:0007354
5446	PON3	Fatigue	HP:0012378
5446	PON3	Generalized muscle weakness	HP:0003324
5446	PON3	Respiratory failure	HP:0002878
5447	POR	Joint contracture of the hand	HP:0009473
5447	POR	Arnold-Chiari malformation	HP:0002308
5447	POR	Wide anterior fontanel	HP:0000260
5447	POR	Narrow chest	HP:0000774
5447	POR	Autosomal recessive inheritance	HP:0000007
5447	POR	Proptosis	HP:0000520
5447	POR	Decreased fertility in males	HP:0012041
5447	POR	Generalized hyperpigmentation	HP:0007440
5447	POR	Malar flattening	HP:0000272
5447	POR	Decreased serum estradiol	HP:0008214
5447	POR	Hypoplasia of the vagina	HP:0008726
5447	POR	Midface retrusion	HP:0011800
5447	POR	Female external genitalia in individual with 46,XY karyotype	HP:0008730
5447	POR	Oligohydramnios	HP:0001562
5447	POR	Cryptorchidism	HP:0000028
5447	POR	Decreased testicular size	HP:0008734
5447	POR	Ambiguous genitalia, male	HP:0000033
5447	POR	Androgen insufficiency	HP:0008226
5447	POR	Acne	HP:0001061
5447	POR	Male pseudohermaphroditism	HP:0000037
5447	POR	Chordee	HP:0000041
5447	POR	Rocker bottom foot	HP:0001838
5447	POR	Scrotal hypoplasia	HP:0000046
5447	POR	Hypospadias	HP:0000047
5447	POR	Bifid scrotum	HP:0000048
5447	POR	Hyperpigmented genitalia	HP:0030258
5447	POR	Abnormality of the endocrine system	HP:0000818
5447	POR	Vesicovaginal fistula	HP:0001586
5447	POR	Perineal hypospadias	HP:0000051
5447	POR	Hypertension	HP:0000822
5447	POR	Micropenis	HP:0000054
5447	POR	Delayed puberty	HP:0000823
5447	POR	Aortic root aneurysm	HP:0002616
5447	POR	Hypoplastic labia majora	HP:0000059
5447	POR	Hypertelorism	HP:0000316
5447	POR	Ambiguous genitalia, female	HP:0000061
5447	POR	Female sexual dysfunction	HP:0030014
5447	POR	Ambiguous genitalia	HP:0000062
5447	POR	Fused labia minora	HP:0000063
5447	POR	Laryngomalacia	HP:0001601
5447	POR	Congenital adrenal hyperplasia	HP:0008258
5447	POR	Labial hypoplasia	HP:0000066
5447	POR	Adrenogenital syndrome	HP:0000840
5447	POR	Abnormality of the labia majora	HP:0012881
5447	POR	Increased circulating ACTH level	HP:0003154
5447	POR	Craniosynostosis	HP:0001363
5447	POR	Horseshoe kidney	HP:0000085
5447	POR	Long philtrum	HP:0000343
5447	POR	Coronal craniosynostosis	HP:0004440
5447	POR	Scoliosis	HP:0002650
5447	POR	Flexion contracture	HP:0001371
5447	POR	Lambdoidal craniosynostosis	HP:0004443
5447	POR	Atrial septal defect	HP:0001631
5447	POR	Camptodactyly	HP:0012385
5447	POR	Tall stature	HP:0000098
5447	POR	Decreased fertility in females	HP:0000868
5447	POR	Low-set ears	HP:0000369
5447	POR	Cloverleaf skull	HP:0002676
5447	POR	Hemivertebrae	HP:0002937
5447	POR	Abnormality of the pinna	HP:0000377
5447	POR	Premature adrenarche	HP:0012412
5447	POR	Clinodactyly	HP:0030084
5447	POR	Maternal virilization in pregnancy	HP:0008072
5447	POR	Increased serum testosterone level	HP:0030088
5447	POR	Low maternal serum estriol	HP:0008073
5447	POR	Abnormality of the menstrual cycle	HP:0000140
5447	POR	Arachnodactyly	HP:0001166
5447	POR	Stenosis of the external auditory canal	HP:0000402
5447	POR	Polycystic ovaries	HP:0000147
5447	POR	Abnormality of metabolism/homeostasis	HP:0001939
5447	POR	Vaginal atresia	HP:0000148
5447	POR	Conductive hearing impairment	HP:0000405
5447	POR	Radioulnar synostosis	HP:0002974
5447	POR	Abnormality of abdomen morphology	HP:0001438
5447	POR	Depressed nasal bridge	HP:0005280
5447	POR	Femoral bowing	HP:0002980
5447	POR	Urogenital sinus anomaly	HP:0100779
5447	POR	Abnormalities of placenta or umbilical cord	HP:0001194
5447	POR	Osteoporosis	HP:0000939
5447	POR	Tarsal synostosis	HP:0008368
5447	POR	Abnormal renal morphology	HP:0012210
5447	POR	Delayed skeletal maturation	HP:0002750
5447	POR	Pear-shaped nose	HP:0000447
5447	POR	Choanal stenosis	HP:0000452
5447	POR	Choanal atresia	HP:0000453
5447	POR	Narrow pelvis bone	HP:0003275
5447	POR	Abnormal sex determination	HP:0012244
5447	POR	Ulnar bowing	HP:0003031
5447	POR	Frontal bossing	HP:0002007
5447	POR	Clitoral hypertrophy	HP:0008665
5447	POR	Bronchomalacia	HP:0002780
5447	POR	Upper airway obstruction	HP:0002781
5447	POR	Ectopic adrenal gland	HP:0011742
5447	POR	Humeroradial synostosis	HP:0003041
5447	POR	Intellectual disability	HP:0001249
5447	POR	Short stature	HP:0004322
5447	POR	Enlarged polycystic ovaries	HP:0008675
5447	POR	Decreased circulating cortisol level	HP:0008163
5447	POR	Adrenocorticotropic hormone excess	HP:0011749
5447	POR	Carpal synostosis	HP:0009702
5447	POR	Decreased serum testosterone level	HP:0040171
5447	POR	Small for gestational age	HP:0001518
5447	POR	Hydrocephalus	HP:0000238
5447	POR	Hirsutism	HP:0001007
5447	POR	Accelerated skeletal maturation	HP:0005616
5447	POR	Brachycephaly	HP:0000248
5447	POR	Absence of secondary sex characteristics	HP:0008187
5447	POR	Microcephaly	HP:0000252
5449	POU1F1	Umbilical hernia	HP:0001537
5449	POU1F1	Anterior pituitary agenesis	HP:0010626
5449	POU1F1	Anterior pituitary hypoplasia	HP:0010627
5449	POU1F1	Autosomal dominant inheritance	HP:0000006
5449	POU1F1	Autosomal recessive inheritance	HP:0000007
5449	POU1F1	Generalized hypotonia	HP:0001290
5449	POU1F1	Central hypothyroidism	HP:0011787
5449	POU1F1	Amenorrhea	HP:0000141
5449	POU1F1	Delayed cranial suture closure	HP:0000270
5449	POU1F1	Malar flattening	HP:0000272
5449	POU1F1	Severe postnatal growth retardation	HP:0008850
5449	POU1F1	Infertility	HP:0000789
5449	POU1F1	Abnormal prolactin level	HP:0040086
5449	POU1F1	Hypoglycemia	HP:0001943
5449	POU1F1	Coarse facial features	HP:0000280
5449	POU1F1	Midface retrusion	HP:0011800
5449	POU1F1	Decreased cervical spine mobility	HP:0004637
5449	POU1F1	Decreased testicular size	HP:0008734
5449	POU1F1	Macroglossia	HP:0000158
5449	POU1F1	Abnormality of secondary sexual hair	HP:0009888
5449	POU1F1	Depressed nasal bridge	HP:0005280
5449	POU1F1	Osteopenia	HP:0000938
5449	POU1F1	Hypogonadotrophic hypogonadism	HP:0000044
5449	POU1F1	Prolonged neonatal jaundice	HP:0006579
5449	POU1F1	Pituitary hypothyroidism	HP:0008245
5449	POU1F1	Median cleft lip and palate	HP:0008501
5449	POU1F1	Hypothyroidism	HP:0000821
5449	POU1F1	Delayed puberty	HP:0000823
5449	POU1F1	Hypotension	HP:0002615
5449	POU1F1	Sleep disturbance	HP:0002360
5449	POU1F1	Jaundice	HP:0000952
5449	POU1F1	Ectopic anterior pituitary gland	HP:0012731
5449	POU1F1	Delayed skeletal maturation	HP:0002750
5449	POU1F1	Feeding difficulties	HP:0011968
5449	POU1F1	Abdominal distention	HP:0003270
5449	POU1F1	Aplasia/Hypoplasia of the breasts	HP:0010311
5449	POU1F1	Pituitary dwarfism	HP:0000839
5449	POU1F1	Depressed nasal ridge	HP:0000457
5449	POU1F1	Oral cleft	HP:0000202
5449	POU1F1	Polydactyly	HP:0010442
5449	POU1F1	Anteverted nares	HP:0000463
5449	POU1F1	Holoprosencephaly	HP:0001360
5449	POU1F1	Severe global developmental delay	HP:0011344
5449	POU1F1	Prominent forehead	HP:0011220
5449	POU1F1	Frontal bossing	HP:0002007
5449	POU1F1	Fatigue	HP:0012378
5449	POU1F1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
5449	POU1F1	Intellectual disability	HP:0001249
5449	POU1F1	Short stature	HP:0004322
5449	POU1F1	Seizures	HP:0001250
5449	POU1F1	Constipation	HP:0002019
5449	POU1F1	Muscular hypotonia	HP:0001252
5449	POU1F1	Decreased circulating ACTH level	HP:0002920
5449	POU1F1	Deeply set eye	HP:0000490
5449	POU1F1	Septo-optic dysplasia	HP:0100842
5449	POU1F1	Ectopic posterior pituitary	HP:0011755
5449	POU1F1	Global developmental delay	HP:0001263
5449	POU1F1	Large fontanelles	HP:0000239
5449	POU1F1	Osteoporosis of vertebrae	HP:0005625
5449	POU1F1	Agenesis of corpus callosum	HP:0001274
5449	POU1F1	Absence of secondary sex characteristics	HP:0008187
5449	POU1F1	Short nose	HP:0003196
5450	POU2AF1	Hypoalbuminemia	HP:0003073
5450	POU2AF1	Portal hypertension	HP:0001409
5450	POU2AF1	Dermatographic urticaria	HP:0011971
5450	POU2AF1	Ascites	HP:0001541
5450	POU2AF1	Abdominal distention	HP:0003270
5450	POU2AF1	Elevated alkaline phosphatase	HP:0003155
5450	POU2AF1	Hepatitis	HP:0012115
5450	POU2AF1	Fatigue	HP:0012378
5450	POU2AF1	Conjugated hyperbilirubinemia	HP:0002908
5450	POU2AF1	Pruritus	HP:0000989
5450	POU2AF1	Abnormality of the intrahepatic bile duct	HP:0011040
5450	POU2AF1	Gastrointestinal inflammation	HP:0004386
5450	POU2AF1	Antinuclear antibody positivity	HP:0003493
5450	POU2AF1	Increased circulating IgM level	HP:0003496
5450	POU2AF1	Osteoporosis	HP:0000939
5450	POU2AF1	Onychomycosis	HP:0012203
5450	POU2AF1	Excessive daytime somnolence	HP:0001262
5450	POU2AF1	Abnormal circulating lipid concentration	HP:0003119
5450	POU2AF1	Celiac disease	HP:0002608
5450	POU2AF1	Cirrhosis	HP:0001394
5450	POU2AF1	Hepatic fibrosis	HP:0001395
5450	POU2AF1	Abnormality of the thyroid gland	HP:0000820
5450	POU2AF1	Biliary cirrhosis	HP:0002613
5450	POU2AF1	Hepatic failure	HP:0001399
5450	POU2AF1	Jaundice	HP:0000952
5450	POU2AF1	Hyperpigmentation of the skin	HP:0000953
5450	POU2AF1	Hepatocellular carcinoma	HP:0001402
5450	POU2AF1	Increased circulating IgA level	HP:0003261
5450	POU2AF1	Orthostatic hypotension	HP:0001278
5456	POU3F4	Chorioretinal degeneration	HP:0200065
5456	POU3F4	Choroideremia	HP:0001139
5456	POU3F4	Conductive hearing impairment	HP:0000405
5456	POU3F4	Strabismus	HP:0000486
5456	POU3F4	Sensorineural hearing impairment	HP:0000407
5456	POU3F4	Progressive sensorineural hearing impairment	HP:0000408
5456	POU3F4	Obesity	HP:0001513
5456	POU3F4	Dilatated internal auditory canal	HP:0004458
5456	POU3F4	X-linked recessive inheritance	HP:0001419
5456	POU3F4	Stapes ankylosis	HP:0000381
283989	TSEN54	Infantile encephalopathy	HP:0007105
283989	TSEN54	Opisthotonus	HP:0002179
283989	TSEN54	Restlessness	HP:0000711
283989	TSEN54	Autosomal recessive inheritance	HP:0000007
283989	TSEN54	Cerebral cortical atrophy	HP:0002120
283989	TSEN54	Extrapyramidal dyskinesia	HP:0007308
283989	TSEN54	Hypoplasia of the pons	HP:0012110
283989	TSEN54	Severe global developmental delay	HP:0011344
283989	TSEN54	Abnormality of metabolism/homeostasis	HP:0001939
283989	TSEN54	Abnormality of the periventricular white matter	HP:0002518
283989	TSEN54	Loss of Purkinje cells in the cerebellar vermis	HP:0007001
283989	TSEN54	Polyhydramnios	HP:0001561
283989	TSEN54	Impaired smooth pursuit	HP:0007772
283989	TSEN54	Seizures	HP:0001250
283989	TSEN54	Feeding difficulties in infancy	HP:0008872
283989	TSEN54	Cerebellar hypoplasia	HP:0001321
283989	TSEN54	Spasticity	HP:0001257
283989	TSEN54	Death in childhood	HP:0003819
283989	TSEN54	Olivopontocerebellar hypoplasia	HP:0006955
283989	TSEN54	Poor suck	HP:0002033
283989	TSEN54	Death in infancy	HP:0001522
283989	TSEN54	Congenital contracture	HP:0002803
283989	TSEN54	Myoclonus	HP:0001336
283989	TSEN54	Congenital onset	HP:0003577
283989	TSEN54	Visual impairment	HP:0000505
283989	TSEN54	Gliosis	HP:0002171
283989	TSEN54	Microcephaly	HP:0000252
283989	TSEN54	Progressive microcephaly	HP:0000253
283989	TSEN54	Hypoplasia of the brainstem	HP:0002365
283989	TSEN54	Respiratory failure	HP:0002878
5459	POU4F3	Autosomal dominant inheritance	HP:0000006
5459	POU4F3	Hearing impairment	HP:0000365
128338	DRAM2	Photophobia	HP:0000613
128338	DRAM2	Nyctalopia	HP:0000662
128338	DRAM2	Color vision defect	HP:0000551
128338	DRAM2	Abnormality of retinal pigmentation	HP:0007703
128338	DRAM2	Autosomal recessive inheritance	HP:0000007
128338	DRAM2	Visual impairment	HP:0000505
128338	DRAM2	Macular atrophy	HP:0007401
128338	DRAM2	Retinal dystrophy	HP:0000556
128338	DRAM2	Reduced visual acuity	HP:0007663
79188	TMEM43	Ichthyosis	HP:0008064
79188	TMEM43	Limb-girdle muscular dystrophy	HP:0006785
79188	TMEM43	EMG: myopathic abnormalities	HP:0003458
79188	TMEM43	Autosomal dominant inheritance	HP:0000006
79188	TMEM43	Chest pain	HP:0100749
79188	TMEM43	Atrioventricular block	HP:0001678
79188	TMEM43	Right ventricular cardiomyopathy	HP:0011663
79188	TMEM43	Sprengel anomaly	HP:0000912
79188	TMEM43	Toe walking	HP:0040083
79188	TMEM43	Ventricular tachycardia	HP:0004756
79188	TMEM43	Prolonged QRS complex	HP:0006677
79188	TMEM43	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0004631
79188	TMEM43	Ventricular extrasystoles	HP:0006682
79188	TMEM43	Type 1 muscle fiber atrophy	HP:0011807
79188	TMEM43	Proximal muscle weakness in lower limbs	HP:0008994
79188	TMEM43	Reduced tendon reflexes	HP:0001315
79188	TMEM43	Ventricular escape rhythm	HP:0005155
79188	TMEM43	Elevated serum creatine kinase	HP:0003236
79188	TMEM43	Lipodystrophy	HP:0009125
79188	TMEM43	Absent muscle fiber emerin	HP:0030117
79188	TMEM43	Proximal muscle weakness in upper limbs	HP:0008997
79188	TMEM43	Palpitations	HP:0001962
79188	TMEM43	Elbow flexion contracture	HP:0002987
79188	TMEM43	Dyskinesia	HP:0100660
79188	TMEM43	Myotonia	HP:0002486
79188	TMEM43	Respiratory insufficiency due to muscle weakness	HP:0002747
79188	TMEM43	Increased LDL cholesterol concentration	HP:0003141
79188	TMEM43	Vocal cord paralysis	HP:0001605
79188	TMEM43	Neck muscle weakness	HP:0000467
79188	TMEM43	Waddling gait	HP:0002515
79188	TMEM43	Proximal amyotrophy	HP:0007126
79188	TMEM43	Back pain	HP:0003418
79188	TMEM43	Scoliosis	HP:0002650
79188	TMEM43	Slow progression	HP:0003677
79188	TMEM43	Rimmed vacuoles	HP:0003805
79188	TMEM43	Congestive heart failure	HP:0001635
79188	TMEM43	Muscular hypotonia	HP:0001252
79188	TMEM43	Presyncope	HP:0031972
79188	TMEM43	Hypertrophic cardiomyopathy	HP:0001639
79188	TMEM43	Muscular dystrophy	HP:0003560
79188	TMEM43	Obesity	HP:0001513
79188	TMEM43	Spinal rigidity	HP:0003306
79188	TMEM43	Hypertriglyceridemia	HP:0002155
79188	TMEM43	Scapular winging	HP:0003691
79188	TMEM43	Hyperlordosis	HP:0003307
79188	TMEM43	Achilles tendon contracture	HP:0001771
79188	TMEM43	Joint stiffness	HP:0001387
79188	TMEM43	Dilated cardiomyopathy	HP:0001644
79188	TMEM43	Sudden cardiac death	HP:0001645
79188	TMEM43	Proximal upper limb amyotrophy	HP:0008948
79188	TMEM43	Proximal muscle weakness	HP:0003701
79188	TMEM43	Atrial fibrillation	HP:0005110
79188	TMEM43	Kyphosis	HP:0002808
79188	TMEM43	Supraventricular arrhythmia	HP:0005115
79188	TMEM43	Proximal lower limb amyotrophy	HP:0008956
79188	TMEM43	Ptosis	HP:0000508
79188	TMEM43	Adult onset	HP:0003581
79188	TMEM43	Bradycardia	HP:0001662
79188	TMEM43	Pectus excavatum	HP:0000767
5468	PPARG	Hyperglycemia	HP:0003074
5468	PPARG	Autosomal dominant inheritance	HP:0000006
5468	PPARG	Autosomal recessive inheritance	HP:0000007
5468	PPARG	Abnormality of the face	HP:0000271
5468	PPARG	Primary amenorrhea	HP:0000786
5468	PPARG	Bone cyst	HP:0012062
5468	PPARG	Prominent veins on trunk	HP:0007457
5468	PPARG	Loss of facial adipose tissue	HP:0000292
5468	PPARG	Pulmonary arterial hypertension	HP:0002092
5468	PPARG	Mandibular prognathia	HP:0000303
5468	PPARG	Loss of subcutaneous adipose tissue in limbs	HP:0003635
5468	PPARG	Diabetes mellitus	HP:0000819
5468	PPARG	Abnormality of skeletal muscle fiber size	HP:0012084
5468	PPARG	Decreased resting energy expenditure	HP:0012340
5468	PPARG	Hypertension	HP:0000822
5468	PPARG	Growth hormone deficiency	HP:0000824
5468	PPARG	Loss of gluteal subcutaneous adipose tissue	HP:0009017
5468	PPARG	Precocious puberty	HP:0000826
5468	PPARG	Atherosclerosis	HP:0002621
5468	PPARG	Insulin-resistant diabetes mellitus	HP:0000831
5468	PPARG	Prolonged QTc interval	HP:0005184
5468	PPARG	Ventriculomegaly	HP:0002119
5468	PPARG	Maternal diabetes	HP:0009800
5468	PPARG	Hyperinsulinemia	HP:0000842
5468	PPARG	Increased waist to hip ratio	HP:0031819
5468	PPARG	Growth hormone excess	HP:0000845
5468	PPARG	Prominent supraorbital ridges	HP:0000336
5468	PPARG	Marked muscular hypertrophy	HP:0009042
5468	PPARG	Renal insufficiency	HP:0000083
5468	PPARG	Atlantoaxial dislocation	HP:0003414
5468	PPARG	Insulin resistance	HP:0000855
5468	PPARG	Scoliosis	HP:0002650
5468	PPARG	Flexion contracture	HP:0001371
5468	PPARG	Elevated hepatic transaminase	HP:0002910
5468	PPARG	Congestive heart failure	HP:0001635
5468	PPARG	Hyperuricemia	HP:0002149
5468	PPARG	Secondary amenorrhea	HP:0000869
5468	PPARG	Peripheral neuropathy	HP:0009830
5468	PPARG	Hypertrophic cardiomyopathy	HP:0001639
5468	PPARG	Hypertriglyceridemia	HP:0002155
5468	PPARG	Oligomenorrhea	HP:0000876
5468	PPARG	Nephropathy	HP:0000112
5468	PPARG	Progressive proximal muscle weakness	HP:0009073
5468	PPARG	Cirrhosis	HP:0001394
5468	PPARG	Hepatic steatosis	HP:0001397
5468	PPARG	Hepatic failure	HP:0001399
5468	PPARG	Myocardial infarction	HP:0001658
5468	PPARG	Calf muscle pseudohypertrophy	HP:0003707
5468	PPARG	Myopathy	HP:0003198
5468	PPARG	Bradycardia	HP:0001662
5468	PPARG	Skeletal muscle hypertrophy	HP:0003712
5468	PPARG	Coronary artery atherosclerosis	HP:0001677
5468	PPARG	Abnormal circulating creatine kinase concentration	HP:0040081
5468	PPARG	Polycystic ovaries	HP:0000147
5468	PPARG	Large hands	HP:0001176
5468	PPARG	Exercise-induced myalgia	HP:0003738
5468	PPARG	Recurrent infections	HP:0002719
5468	PPARG	Decreased circulating IgA level	HP:0002720
5468	PPARG	Decreased HDL cholesterol concentration	HP:0003233
5468	PPARG	Immunodeficiency	HP:0002721
5468	PPARG	Abnormal oral cavity morphology	HP:0000163
5468	PPARG	Lipodystrophy	HP:0009125
5468	PPARG	Palpitations	HP:0001962
5468	PPARG	Osteopenia	HP:0000938
5468	PPARG	Osteoporosis	HP:0000939
5468	PPARG	Reduced subcutaneous adipose tissue	HP:0003758
5468	PPARG	Ventricular hypertrophy	HP:0001714
5468	PPARG	Generalized hirsutism	HP:0002230
5468	PPARG	Acanthosis nigricans	HP:0000956
5468	PPARG	Delayed skeletal maturation	HP:0002750
5468	PPARG	Hepatomegaly	HP:0002240
5468	PPARG	Arterial stenosis	HP:0100545
5468	PPARG	Thin skin	HP:0000963
5468	PPARG	Abnormality of the musculature	HP:0003011
5468	PPARG	Pancreatitis	HP:0001733
5468	PPARG	Recurrent fractures	HP:0002757
5468	PPARG	Hyperhidrosis	HP:0000975
5468	PPARG	Splenomegaly	HP:0001744
5468	PPARG	Abnormality of the neck	HP:0000464
5468	PPARG	Glomerulopathy	HP:0100820
5468	PPARG	Xanthomatosis	HP:0000991
5468	PPARG	Muscle stiffness	HP:0003552
5468	PPARG	Intellectual disability	HP:0001249
5468	PPARG	Lipoatrophy	HP:0100578
5468	PPARG	Failure to thrive	HP:0001508
5468	PPARG	Pyloric stenosis	HP:0002021
5468	PPARG	Polygenic inheritance	HP:0010982
5468	PPARG	Abnormality of skin pigmentation	HP:0001000
5468	PPARG	Obesity	HP:0001513
5468	PPARG	Broad foot	HP:0001769
5468	PPARG	Spinal rigidity	HP:0003306
5468	PPARG	Hyperlordosis	HP:0003307
5468	PPARG	Hirsutism	HP:0001007
5468	PPARG	Accelerated skeletal maturation	HP:0005616
5468	PPARG	Increased carotid artery intimal medial thickness	HP:0012273
5468	PPARG	Atrial fibrillation	HP:0005110
5468	PPARG	Prominent superficial veins	HP:0001015
5468	PPARG	Eclampsia	HP:0100601
5468	PPARG	Preeclampsia	HP:0100602
5468	PPARG	Dysmenorrhea	HP:0100607
5468	PPARG	Myalgia	HP:0003326
5476	CTSA	Intellectual disability	HP:0001249
5476	CTSA	Seizures	HP:0001250
5476	CTSA	Hemangioma	HP:0001028
5476	CTSA	Decreased beta-galactosidase activity	HP:0008166
5476	CTSA	Visceromegaly	HP:0003271
5476	CTSA	Autosomal recessive inheritance	HP:0000007
5476	CTSA	Cherry red spot of the macula	HP:0010729
5476	CTSA	Abnormal vertebral morphology	HP:0003468
5476	CTSA	Conjunctival telangiectasia	HP:0000524
5476	CTSA	Hearing impairment	HP:0000365
5476	CTSA	Opacification of the corneal stroma	HP:0007759
5476	CTSA	Dysostosis multiplex	HP:0000943
5476	CTSA	Corneal opacity	HP:0007957
5476	CTSA	Severe short stature	HP:0003510
5476	CTSA	Coarse facial features	HP:0000280
5476	CTSA	Hepatosplenomegaly	HP:0001433
5476	CTSA	Skeletal dysplasia	HP:0002652
5476	CTSA	Nonimmune hydrops fetalis	HP:0001790
5479	PPIB	Pectus carinatum	HP:0000768
5479	PPIB	Decreased calvarial ossification	HP:0005474
5479	PPIB	Recurrent fractures	HP:0002757
5479	PPIB	Autosomal recessive inheritance	HP:0000007
5479	PPIB	Disproportionate short-limb short stature	HP:0008873
5479	PPIB	Bowing of limbs due to multiple fractures	HP:0003023
5479	PPIB	Blue sclerae	HP:0000592
5479	PPIB	Short lower limbs	HP:0006385
5479	PPIB	Wormian bones	HP:0002645
5479	PPIB	Kyphosis	HP:0002808
5479	PPIB	Scoliosis	HP:0002650
5479	PPIB	Beaded ribs	HP:0000923
5479	PPIB	Platyspondyly	HP:0000926
5479	PPIB	Pectus excavatum	HP:0000767
5479	PPIB	Dentinogenesis imperfecta	HP:0000703
5479	PPIB	Multiple prenatal fractures	HP:0005855
30061	SLC40A1	Glucose intolerance	HP:0001952
30061	SLC40A1	Limitation of joint mobility	HP:0001376
30061	SLC40A1	Impotence	HP:0000802
30061	SLC40A1	Cardiomyopathy	HP:0001638
30061	SLC40A1	Osteoarthritis	HP:0002758
30061	SLC40A1	Autosomal dominant inheritance	HP:0000006
30061	SLC40A1	Cataract	HP:0000518
30061	SLC40A1	Joint swelling	HP:0001386
30061	SLC40A1	Abdominal pain	HP:0002027
30061	SLC40A1	Arthralgia	HP:0002829
30061	SLC40A1	Generalized hyperpigmentation	HP:0007440
30061	SLC40A1	Increased serum ferritin	HP:0003281
30061	SLC40A1	Cirrhosis	HP:0001394
30061	SLC40A1	Congenital hepatic fibrosis	HP:0002612
30061	SLC40A1	Hepatic steatosis	HP:0001397
30061	SLC40A1	Fatigue	HP:0012378
30061	SLC40A1	Arrhythmia	HP:0011675
30061	SLC40A1	Joint dislocation	HP:0001373
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
5495	PPM1B	Depressed nasal bridge	HP:0005280
5495	PPM1B	Seizures	HP:0001250
5495	PPM1B	Failure to thrive	HP:0001508
5495	PPM1B	Muscular hypotonia	HP:0001252
5495	PPM1B	Intellectual disability, moderate	HP:0002342
5495	PPM1B	Growth delay	HP:0001510
5495	PPM1B	Hypogonadism	HP:0000135
5495	PPM1B	Nasal speech	HP:0001611
5495	PPM1B	Global developmental delay	HP:0001263
5495	PPM1B	Long eyelashes	HP:0000527
5495	PPM1B	Low-set, posteriorly rotated ears	HP:0000368
5495	PPM1B	Nephrolithiasis	HP:0000787
5495	PPM1B	Hypocalcemia	HP:0002901
5495	PPM1B	Decreased fetal movement	HP:0001558
5495	PPM1B	Hypoglycemia	HP:0001943
5495	PPM1B	Frontal bossing	HP:0002007
5495	PPM1B	Lactic acidosis	HP:0003128
5495	PPM1B	Cystinuria	HP:0003131
5495	PPM1B	Mitochondrial respiratory chain defects	HP:0200125
5498	PPOX	Cutaneous photosensitivity	HP:0000992
5498	PPOX	Nausea and vomiting	HP:0002017
5498	PPOX	Abnormal blistering of the skin	HP:0008066
5498	PPOX	Seizures	HP:0001250
5498	PPOX	Anxiety	HP:0000739
5498	PPOX	Thin skin	HP:0000963
5498	PPOX	Constipation	HP:0002019
5498	PPOX	Psychosis	HP:0000709
5498	PPOX	Peripheral neuropathy	HP:0009830
5498	PPOX	Autosomal dominant inheritance	HP:0000006
5498	PPOX	Confusion	HP:0001289
5498	PPOX	Porphyrinuria	HP:0010473
5498	PPOX	Motor polyneuropathy	HP:0007178
5498	PPOX	Abdominal pain	HP:0002027
5498	PPOX	Depressivity	HP:0000716
5498	PPOX	Muscle weakness	HP:0001324
5498	PPOX	Paralysis	HP:0003470
5498	PPOX	Tachycardia	HP:0001649
5498	PPOX	Scarring	HP:0100699
5498	PPOX	Hypopigmented skin patches	HP:0001053
5498	PPOX	Vomiting	HP:0002013
5498	PPOX	Visual hallucinations	HP:0002367
5500	PPP1CB	Pectus carinatum	HP:0000768
5500	PPP1CB	Macrocephaly	HP:0000256
5500	PPP1CB	Brachydactyly	HP:0001156
5500	PPP1CB	Autosomal dominant inheritance	HP:0000006
5500	PPP1CB	Sparse hair	HP:0008070
5500	PPP1CB	Thickened helices	HP:0000391
5500	PPP1CB	Hypoplastic toenails	HP:0001800
5500	PPP1CB	Generalized hypotonia	HP:0001290
5500	PPP1CB	Overfolded helix	HP:0000396
5500	PPP1CB	Macrotia	HP:0000400
5500	PPP1CB	Coarctation of aorta	HP:0001680
5500	PPP1CB	Dermal translucency	HP:0010648
5500	PPP1CB	Dandy-Walker malformation	HP:0001305
5500	PPP1CB	Cryptorchidism	HP:0000028
5500	PPP1CB	Epicanthus	HP:0000286
5500	PPP1CB	Carious teeth	HP:0000670
5500	PPP1CB	Sparse scalp hair	HP:0002209
5500	PPP1CB	Slow-growing hair	HP:0002217
5500	PPP1CB	Abnormal palate morphology	HP:0000174
5500	PPP1CB	Thick lower lip vermilion	HP:0000179
5500	PPP1CB	Arnold-Chiari type I malformation	HP:0007099
5500	PPP1CB	Hypertelorism	HP:0000316
5500	PPP1CB	Cafe-au-lait spot	HP:0000957
5500	PPP1CB	Delayed skeletal maturation	HP:0002750
5500	PPP1CB	Right bundle branch block	HP:0011712
5500	PPP1CB	Thin skin	HP:0000963
5500	PPP1CB	Freckling	HP:0001480
5500	PPP1CB	Abnormal fingernail morphology	HP:0001231
5500	PPP1CB	Anteverted nares	HP:0000463
5500	PPP1CB	Webbed neck	HP:0000465
5500	PPP1CB	Deep philtrum	HP:0002002
5500	PPP1CB	Abnormality of the elbow	HP:0009811
5500	PPP1CB	Craniosynostosis	HP:0001363
5500	PPP1CB	Prominent forehead	HP:0011220
5500	PPP1CB	Short neck	HP:0000470
5500	PPP1CB	High palate	HP:0000218
5500	PPP1CB	Broad neck	HP:0000475
5500	PPP1CB	Ventricular septal defect	HP:0001629
5500	PPP1CB	Intellectual disability	HP:0001249
5500	PPP1CB	Optic nerve hypoplasia	HP:0000609
5500	PPP1CB	Short stature	HP:0004322
5500	PPP1CB	Failure to thrive	HP:0001508
5500	PPP1CB	Posteriorly rotated ears	HP:0000358
5500	PPP1CB	Joint hypermobility	HP:0001382
5500	PPP1CB	Hypertrophic cardiomyopathy	HP:0001639
5500	PPP1CB	Aplasia/Hypoplasia of the eyebrow	HP:0100840
5500	PPP1CB	Thin vermilion border	HP:0000233
5500	PPP1CB	Peripheral pulmonary artery stenosis	HP:0004969
5500	PPP1CB	Pulmonic stenosis	HP:0001642
5500	PPP1CB	Patent ductus arteriosus	HP:0001643
5500	PPP1CB	Hearing impairment	HP:0000365
5500	PPP1CB	Hydrocephalus	HP:0000238
5500	PPP1CB	Downslanted palpebral fissures	HP:0000494
5500	PPP1CB	Delayed speech and language development	HP:0000750
5500	PPP1CB	Global developmental delay	HP:0001263
5500	PPP1CB	Low-set, posteriorly rotated ears	HP:0000368
5500	PPP1CB	Low-set ears	HP:0000369
5500	PPP1CB	Low posterior hairline	HP:0002162
5500	PPP1CB	Abnormality of the intervertebral disk	HP:0005108
5500	PPP1CB	Mitral regurgitation	HP:0001653
5500	PPP1CB	Patent foramen ovale	HP:0001655
5500	PPP1CB	Short nose	HP:0003196
5500	PPP1CB	Ptosis	HP:0000508
5500	PPP1CB	Pectus excavatum	HP:0000767
79228	THOC6	Intellectual disability	HP:0001249
79228	THOC6	Myopia	HP:0000545
79228	THOC6	High anterior hairline	HP:0009890
79228	THOC6	Low hanging columella	HP:0009765
79228	THOC6	Blepharophimosis	HP:0000581
79228	THOC6	Upslanted palpebral fissure	HP:0000582
79228	THOC6	Autosomal recessive inheritance	HP:0000007
79228	THOC6	Renal agenesis	HP:0000104
79228	THOC6	Short palpebral fissure	HP:0012745
79228	THOC6	Recurrent urinary tract infections	HP:0000010
79228	THOC6	Deeply set eye	HP:0000490
79228	THOC6	Patent ductus arteriosus	HP:0001643
79228	THOC6	Endometriosis	HP:0030127
79228	THOC6	Abnormal facial shape	HP:0001999
79228	THOC6	Global developmental delay	HP:0001263
79228	THOC6	Dental malocclusion	HP:0000689
79228	THOC6	Horseshoe kidney	HP:0000085
79228	THOC6	Long nose	HP:0003189
79228	THOC6	Microcephaly	HP:0000252
79228	THOC6	High forehead	HP:0000348
79228	THOC6	Carious teeth	HP:0000670
54658	UGT1A1	Neonatal hyperbilirubinemia	HP:0003265
54658	UGT1A1	Intellectual disability	HP:0001249
54658	UGT1A1	Seizures	HP:0001250
54658	UGT1A1	Autosomal recessive inheritance	HP:0000007
54658	UGT1A1	Hearing impairment	HP:0000365
54658	UGT1A1	Delayed speech and language development	HP:0000750
54658	UGT1A1	Neonatal unconjugated hyperbilirubinemia	HP:0008176
54658	UGT1A1	Encephalopathy	HP:0001298
54658	UGT1A1	Memory impairment	HP:0002354
54658	UGT1A1	Prolonged neonatal jaundice	HP:0006579
54658	UGT1A1	Infantile muscular hypotonia	HP:0008947
54658	UGT1A1	Cerebral palsy	HP:0100021
54658	UGT1A1	Oculomotor nerve palsy	HP:0012246
54658	UGT1A1	Jaundice	HP:0000952
54658	UGT1A1	Biliary tract abnormality	HP:0001080
54658	UGT1A1	Tremor	HP:0001337
54658	UGT1A1	Unconjugated hyperbilirubinemia	HP:0008282
54658	UGT1A1	Very rare	HP:0040284
54658	UGT1A1	Kernicterus	HP:0001343
5506	PPP1R3A	Late onset	HP:0003584
5506	PPP1R3A	Autosomal dominant inheritance	HP:0000006
5506	PPP1R3A	Insulin resistance	HP:0000855
5506	PPP1R3A	Type II diabetes mellitus	HP:0005978
5506	PPP1R3A	Decreased waist to hip ratio	HP:0031820
54664	TMEM106B	Collectionism	HP:0030212
54664	TMEM106B	Emotional blunting	HP:0030213
54664	TMEM106B	Gait disturbance	HP:0001288
54664	TMEM106B	Generalized hypotonia	HP:0001290
54664	TMEM106B	Dyscalculia	HP:0002442
54664	TMEM106B	Apraxia	HP:0002186
54664	TMEM106B	Visual agnosia	HP:0030222
54664	TMEM106B	Astrocytosis	HP:0002446
54664	TMEM106B	Perseveration	HP:0030223
54664	TMEM106B	Gait ataxia	HP:0002066
54664	TMEM106B	Parkinsonism	HP:0001300
54664	TMEM106B	Generalized tonic-clonic seizures	HP:0002069
54664	TMEM106B	Abnormality of extrapyramidal motor function	HP:0002071
54664	TMEM106B	Dyslexia	HP:0010522
54664	TMEM106B	Alexia	HP:0010523
54664	TMEM106B	Brain atrophy	HP:0012444
54664	TMEM106B	Dysgraphia	HP:0010526
54664	TMEM106B	Dysmetria	HP:0001310
54664	TMEM106B	Hypoplasia of the corpus callosum	HP:0002079
54664	TMEM106B	Intention tremor	HP:0002080
54664	TMEM106B	Echolalia	HP:0010529
54664	TMEM106B	Poor speech	HP:0002465
54664	TMEM106B	Senile plaques	HP:0100256
54664	TMEM106B	Memory impairment	HP:0002354
54664	TMEM106B	Dystonia	HP:0001332
54664	TMEM106B	Dysphasia	HP:0002357
54664	TMEM106B	Spoken Word Recognition Deficit	HP:0030391
54664	TMEM106B	Upper motor neuron dysfunction	HP:0002493
54664	TMEM106B	Abnormal lower motor neuron morphology	HP:0002366
54664	TMEM106B	Anomia	HP:0030784
54664	TMEM106B	Grammar-specific speech disorder	HP:0006977
54664	TMEM106B	Hyperreflexia	HP:0001347
54664	TMEM106B	Loss of speech	HP:0002371
54664	TMEM106B	EEG with continuous slow activity	HP:0011204
54664	TMEM106B	Abnormality of the cerebral white matter	HP:0002500
54664	TMEM106B	Psychosis	HP:0000709
54664	TMEM106B	Hyperorality	HP:0000710
54664	TMEM106B	Restlessness	HP:0000711
54664	TMEM106B	Temporal cortical atrophy	HP:0007112
54664	TMEM106B	Fasciculations	HP:0002380
54664	TMEM106B	Depressivity	HP:0000716
54664	TMEM106B	Aphasia	HP:0002381
54664	TMEM106B	Aggressive behavior	HP:0000718
54664	TMEM106B	Inappropriate behavior	HP:0000719
54664	TMEM106B	Restrictive behavior	HP:0000723
54664	TMEM106B	Dementia	HP:0000726
54664	TMEM106B	Abnormal pyramidal sign	HP:0007256
54664	TMEM106B	Broad-based gait	HP:0002136
54664	TMEM106B	Thickened nuchal skin fold	HP:0000474
54664	TMEM106B	Stereotypy	HP:0000733
54664	TMEM106B	Disinhibition	HP:0000734
54664	TMEM106B	Intellectual disability	HP:0001249
54664	TMEM106B	Irritability	HP:0000737
54664	TMEM106B	Frontotemporal dementia	HP:0002145
54664	TMEM106B	Seizures	HP:0001250
54664	TMEM106B	Anxiety	HP:0000739
54664	TMEM106B	Apathy	HP:0000741
54664	TMEM106B	Dysarthria	HP:0001260
54664	TMEM106B	Frontotemporal cerebral atrophy	HP:0006892
54664	TMEM106B	Delayed speech and language development	HP:0000750
54664	TMEM106B	Leukodystrophy	HP:0002415
54664	TMEM106B	Personality changes	HP:0000751
54664	TMEM106B	Abnormal brain FDG positron emission tomography	HP:0012658
54664	TMEM106B	Variable expressivity	HP:0003828
54664	TMEM106B	Lack of insight	HP:0000757
54664	TMEM106B	Motor aphasia	HP:0002427
54664	TMEM106B	Hypertonia	HP:0001276
54664	TMEM106B	Mutism	HP:0002300
54664	TMEM106B	Abulia	HP:0012671
54664	TMEM106B	Nystagmus	HP:0000639
5518	PPP2R1A	Absent speech	HP:0001344
5518	PPP2R1A	Open mouth	HP:0000194
5518	PPP2R1A	Facial asymmetry	HP:0000324
5518	PPP2R1A	Autosomal dominant inheritance	HP:0000006
5518	PPP2R1A	Broad hallux	HP:0010055
5518	PPP2R1A	Ventriculomegaly	HP:0002119
5518	PPP2R1A	Generalized hypotonia	HP:0001290
5518	PPP2R1A	Plagiocephaly	HP:0001357
5518	PPP2R1A	Anteverted nares	HP:0000463
5518	PPP2R1A	Delayed gross motor development	HP:0002194
5518	PPP2R1A	Deviation of the 5th finger	HP:0009179
5518	PPP2R1A	Hypoplasia of the corpus callosum	HP:0002079
5518	PPP2R1A	Delayed myelination	HP:0012448
5518	PPP2R1A	Intellectual disability	HP:0001249
5518	PPP2R1A	Abnormal hair whorl	HP:0010721
5518	PPP2R1A	Seizures	HP:0001250
5518	PPP2R1A	Muscular hypotonia	HP:0001252
5518	PPP2R1A	Joint hypermobility	HP:0001382
5518	PPP2R1A	Facial hypotonia	HP:0000297
5518	PPP2R1A	Inability to walk	HP:0002540
5518	PPP2R1A	Downslanted palpebral fissures	HP:0000494
5518	PPP2R1A	Hydrocephalus	HP:0000238
5518	PPP2R1A	Prominent metopic ridge	HP:0005487
5518	PPP2R1A	Global developmental delay	HP:0001263
5518	PPP2R1A	Tented upper lip vermilion	HP:0010804
5518	PPP2R1A	Visual impairment	HP:0000505
5518	PPP2R1A	Abnormality of the orbital region	HP:0000315
5518	PPP2R1A	Hypertelorism	HP:0000316
5518	PPP2R1A	Microcephaly	HP:0000252
5518	PPP2R1A	Pectus excavatum	HP:0000767
5519	PPP2R1B	Somatic mutation	HP:0001428
5519	PPP2R1B	Autosomal dominant inheritance	HP:0000006
5519	PPP2R1B	Alveolar cell carcinoma	HP:0006519
5519	PPP2R1B	Autosomal recessive inheritance	HP:0000007
5521	PPP2R2B	Hyperreflexia	HP:0001347
5521	PPP2R2B	Behavioral abnormality	HP:0000708
5521	PPP2R2B	Autosomal dominant inheritance	HP:0000006
5521	PPP2R2B	Hypokinesia	HP:0002375
5521	PPP2R2B	Cerebral cortical atrophy	HP:0002120
5521	PPP2R2B	Cerebral atrophy	HP:0002059
5521	PPP2R2B	Depressivity	HP:0000716
5521	PPP2R2B	Unsteady gait	HP:0002317
5521	PPP2R2B	Bradykinesia	HP:0002067
5521	PPP2R2B	Parkinsonism	HP:0001300
5521	PPP2R2B	Dementia	HP:0000726
5521	PPP2R2B	Abnormal pyramidal sign	HP:0007256
5521	PPP2R2B	Progressive cerebellar ataxia	HP:0002073
5521	PPP2R2B	Dysdiadochokinesis	HP:0002075
5521	PPP2R2B	Dysmetria	HP:0001310
5521	PPP2R2B	Intention tremor	HP:0002080
5521	PPP2R2B	Poor fine motor coordination	HP:0007010
5521	PPP2R2B	Axial dystonia	HP:0002530
5521	PPP2R2B	Anxiety	HP:0000739
5521	PPP2R2B	Sensorimotor neuropathy	HP:0007141
5521	PPP2R2B	Limb dysmetria	HP:0002406
5521	PPP2R2B	Action tremor	HP:0002345
5521	PPP2R2B	Head tremor	HP:0002346
5521	PPP2R2B	Delusions	HP:0000746
5521	PPP2R2B	Tremor by anatomical site	HP:0030188
5521	PPP2R2B	Dysarthria	HP:0001260
5521	PPP2R2B	Abnormality of eye movement	HP:0000496
5521	PPP2R2B	Cerebellar atrophy	HP:0001272
5521	PPP2R2B	Facial myokymia	HP:0000317
5521	PPP2R2B	Postural tremor	HP:0002174
54676	GTPBP2	Hyperreflexia	HP:0001347
54676	GTPBP2	Cataract	HP:0000518
54676	GTPBP2	Optic atrophy	HP:0000648
54676	GTPBP2	Infantile onset	HP:0003593
54676	GTPBP2	Generalized hypotonia	HP:0001290
54676	GTPBP2	Sparse eyelashes	HP:0000653
54676	GTPBP2	Abnormal facial shape	HP:0001999
54676	GTPBP2	Gait ataxia	HP:0002066
54676	GTPBP2	Sparse eyebrow	HP:0045075
54676	GTPBP2	Narrow forehead	HP:0000341
54676	GTPBP2	Scoliosis	HP:0002650
54676	GTPBP2	Protruding ear	HP:0000411
54676	GTPBP2	Distal muscle weakness	HP:0002460
54676	GTPBP2	Dysmetria	HP:0001310
54676	GTPBP2	Depressed nasal bridge	HP:0005280
54676	GTPBP2	Intellectual disability	HP:0001249
54676	GTPBP2	Myopia	HP:0000545
54676	GTPBP2	Talipes equinovarus	HP:0001762
54676	GTPBP2	Seizures	HP:0001250
54676	GTPBP2	Failure to thrive	HP:0001508
54676	GTPBP2	Hand clenching	HP:0001188
54676	GTPBP2	Joint hypermobility	HP:0001382
54676	GTPBP2	Spasticity	HP:0001257
54676	GTPBP2	Joint stiffness	HP:0001387
54676	GTPBP2	Inability to walk	HP:0002540
54676	GTPBP2	Global developmental delay	HP:0001263
54676	GTPBP2	Low-set ears	HP:0000369
54676	GTPBP2	Choreoathetosis	HP:0001266
54676	GTPBP2	Dystonia	HP:0001332
54676	GTPBP2	Variable expressivity	HP:0003828
54676	GTPBP2	Cerebellar atrophy	HP:0001272
54676	GTPBP2	Kyphosis	HP:0002808
54676	GTPBP2	Visual impairment	HP:0000505
54676	GTPBP2	Tremor	HP:0001337
54676	GTPBP2	Agenesis of corpus callosum	HP:0001274
54676	GTPBP2	Short nose	HP:0003196
5528	PPP2R5D	Absent speech	HP:0001344
5528	PPP2R5D	Macrocephaly	HP:0000256
5528	PPP2R5D	Intellectual disability	HP:0001249
5528	PPP2R5D	Myopia	HP:0000545
5528	PPP2R5D	Open mouth	HP:0000194
5528	PPP2R5D	Seizures	HP:0001250
5528	PPP2R5D	Congenital muscular torticollis	HP:0005988
5528	PPP2R5D	Pyloric stenosis	HP:0002021
5528	PPP2R5D	Strabismus	HP:0000486
5528	PPP2R5D	Autosomal dominant inheritance	HP:0000006
5528	PPP2R5D	Ventriculomegaly	HP:0002119
5528	PPP2R5D	Facial hypotonia	HP:0000297
5528	PPP2R5D	Generalized hypotonia	HP:0001290
5528	PPP2R5D	Deeply set eye	HP:0000490
5528	PPP2R5D	Chronic diarrhea	HP:0002028
5528	PPP2R5D	Hydrocephalus	HP:0000238
5528	PPP2R5D	Downslanted palpebral fissures	HP:0000494
5528	PPP2R5D	Global developmental delay	HP:0001263
5528	PPP2R5D	Narrow forehead	HP:0000341
5528	PPP2R5D	Hypoglycemia	HP:0001943
5528	PPP2R5D	Hypertelorism	HP:0000316
5528	PPP2R5D	Congenital hip dislocation	HP:0001374
5530	PPP3CA	Optic atrophy	HP:0000648
5530	PPP3CA	Generalized hypotonia	HP:0001290
5530	PPP3CA	Cerebral atrophy	HP:0002059
5530	PPP3CA	Unsteady gait	HP:0002317
5530	PPP3CA	Rigidity	HP:0002063
5530	PPP3CA	Encephalopathy	HP:0001298
5530	PPP3CA	Decreased fetal movement	HP:0001558
5530	PPP3CA	Hypodontia	HP:0000668
5530	PPP3CA	Abnormal myelination	HP:0012447
5530	PPP3CA	Delayed myelination	HP:0012448
5530	PPP3CA	Retinal degeneration	HP:0000546
5530	PPP3CA	Difficulty walking	HP:0002355
5530	PPP3CA	Dyskinesia	HP:0100660
5530	PPP3CA	Myoclonus	HP:0001336
5530	PPP3CA	Tremor	HP:0001337
5530	PPP3CA	Hypertelorism	HP:0000316
5530	PPP3CA	Feeding difficulties	HP:0011968
5530	PPP3CA	Absent speech	HP:0001344
5530	PPP3CA	Epileptic encephalopathy	HP:0200134
5530	PPP3CA	Developmental regression	HP:0002376
5530	PPP3CA	Limb hypertonia	HP:0002509
5530	PPP3CA	Autism	HP:0000717
5530	PPP3CA	Plagiocephaly	HP:0001357
5530	PPP3CA	Status epilepticus	HP:0002133
5530	PPP3CA	Hypsarrhythmia	HP:0002521
5530	PPP3CA	Multifocal epileptiform discharges	HP:0010841
5530	PPP3CA	High forehead	HP:0000348
5530	PPP3CA	EEG with multifocal slow activity	HP:0010844
5530	PPP3CA	Intellectual disability	HP:0001249
5530	PPP3CA	Cerebral visual impairment	HP:0100704
5530	PPP3CA	Short stature	HP:0004322
5530	PPP3CA	Seizures	HP:0001250
5530	PPP3CA	Ataxia	HP:0001251
5530	PPP3CA	Gastroesophageal reflux	HP:0002020
5530	PPP3CA	Failure to thrive	HP:0001508
5530	PPP3CA	Impulsivity	HP:0100710
5530	PPP3CA	Spasticity	HP:0001257
5530	PPP3CA	Attention deficit hyperactivity disorder	HP:0007018
5530	PPP3CA	Downslanted palpebral fissures	HP:0000494
5530	PPP3CA	Delayed speech and language development	HP:0000750
5530	PPP3CA	Global developmental delay	HP:0001263
5530	PPP3CA	Hyporeflexia	HP:0001265
5530	PPP3CA	Trigonocephaly	HP:0000243
5530	PPP3CA	Mental deterioration	HP:0001268
5530	PPP3CA	Arthrogryposis multiplex congenita	HP:0002804
5530	PPP3CA	Poor head control	HP:0002421
5530	PPP3CA	Abnormality of vision	HP:0000504
5530	PPP3CA	Abnormal corpus callosum morphology	HP:0001273
5530	PPP3CA	Microcephaly	HP:0000252
5530	PPP3CA	Ptosis	HP:0000508
5530	PPP3CA	Nystagmus	HP:0000639
79258	MMEL1	Hypoalbuminemia	HP:0003073
79258	MMEL1	Portal hypertension	HP:0001409
79258	MMEL1	Dermatographic urticaria	HP:0011971
79258	MMEL1	Ascites	HP:0001541
79258	MMEL1	Abdominal distention	HP:0003270
79258	MMEL1	Elevated alkaline phosphatase	HP:0003155
79258	MMEL1	Hepatitis	HP:0012115
79258	MMEL1	Fatigue	HP:0012378
79258	MMEL1	Conjugated hyperbilirubinemia	HP:0002908
79258	MMEL1	Pruritus	HP:0000989
79258	MMEL1	Abnormality of the intrahepatic bile duct	HP:0011040
79258	MMEL1	Gastrointestinal inflammation	HP:0004386
79258	MMEL1	Antinuclear antibody positivity	HP:0003493
79258	MMEL1	Increased circulating IgM level	HP:0003496
79258	MMEL1	Osteoporosis	HP:0000939
79258	MMEL1	Onychomycosis	HP:0012203
79258	MMEL1	Excessive daytime somnolence	HP:0001262
79258	MMEL1	Abnormal circulating lipid concentration	HP:0003119
79258	MMEL1	Celiac disease	HP:0002608
79258	MMEL1	Cirrhosis	HP:0001394
79258	MMEL1	Hepatic fibrosis	HP:0001395
79258	MMEL1	Abnormality of the thyroid gland	HP:0000820
79258	MMEL1	Biliary cirrhosis	HP:0002613
79258	MMEL1	Hepatic failure	HP:0001399
79258	MMEL1	Jaundice	HP:0000952
79258	MMEL1	Hyperpigmentation of the skin	HP:0000953
79258	MMEL1	Hepatocellular carcinoma	HP:0001402
79258	MMEL1	Increased circulating IgA level	HP:0003261
79258	MMEL1	Orthostatic hypotension	HP:0001278
284058	KANSL1	Vertebral fusion	HP:0002948
284058	KANSL1	Cataract	HP:0000518
284058	KANSL1	Autosomal dominant inheritance	HP:0000006
284058	KANSL1	Generalized hypotonia	HP:0001290
284058	KANSL1	Hip dislocation	HP:0002827
284058	KANSL1	Overfolded helix	HP:0000396
284058	KANSL1	Arachnodactyly	HP:0001166
284058	KANSL1	Anteverted ears	HP:0040080
284058	KANSL1	Macrotia	HP:0000400
284058	KANSL1	High, narrow palate	HP:0002705
284058	KANSL1	Long face	HP:0000276
284058	KANSL1	Positional foot deformity	HP:0005656
284058	KANSL1	Cryptorchidism	HP:0000028
284058	KANSL1	Hypermetropia	HP:0000540
284058	KANSL1	Epicanthus	HP:0000286
284058	KANSL1	Bulbous nose	HP:0000414
284058	KANSL1	Abnormality of hair pigmentation	HP:0009887
284058	KANSL1	Hypoplasia of the corpus callosum	HP:0002079
284058	KANSL1	Sporadic	HP:0003745
284058	KANSL1	Poor speech	HP:0002465
284058	KANSL1	Abnormality of the dentition	HP:0000164
284058	KANSL1	Feeding difficulties in infancy	HP:0008872
284058	KANSL1	Prominent nasal bridge	HP:0000426
284058	KANSL1	Broad chin	HP:0011822
284058	KANSL1	Widely spaced teeth	HP:0000687
284058	KANSL1	Cleft palate	HP:0000175
284058	KANSL1	Conspicuously happy disposition	HP:0100024
284058	KANSL1	Contiguous gene syndrome	HP:0001466
284058	KANSL1	Narrow palm	HP:0004283
284058	KANSL1	Prominent fingertip pads	HP:0001212
284058	KANSL1	Narrow palate	HP:0000189
284058	KANSL1	Dry skin	HP:0000958
284058	KANSL1	Pear-shaped nose	HP:0000447
284058	KANSL1	Sacral dimple	HP:0000960
284058	KANSL1	Open mouth	HP:0000194
284058	KANSL1	Eczema	HP:0000964
284058	KANSL1	Blepharophimosis	HP:0000581
284058	KANSL1	Upslanted palpebral fissure	HP:0000582
284058	KANSL1	Ventriculomegaly	HP:0002119
284058	KANSL1	Nasal speech	HP:0001611
284058	KANSL1	Vesicoureteral reflux	HP:0000076
284058	KANSL1	Cleft upper lip	HP:0000204
284058	KANSL1	Aortic aneurysm	HP:0004942
284058	KANSL1	Abnormality of the urinary system	HP:0000079
284058	KANSL1	Broad forehead	HP:0000337
284058	KANSL1	Wide intermamillary distance	HP:0006610
284058	KANSL1	Slender finger	HP:0001238
284058	KANSL1	Abnormality of cardiovascular system morphology	HP:0030680
284058	KANSL1	Hypotelorism	HP:0000601
284058	KANSL1	Scoliosis	HP:0002650
284058	KANSL1	High palate	HP:0000218
284058	KANSL1	High forehead	HP:0000348
284058	KANSL1	Ventricular septal defect	HP:0001629
284058	KANSL1	Atrial septal defect	HP:0001631
284058	KANSL1	Abnormality of hair texture	HP:0010719
284058	KANSL1	Intellectual disability	HP:0001249
284058	KANSL1	Short stature	HP:0004322
284058	KANSL1	Seizures	HP:0001250
284058	KANSL1	Anxiety	HP:0000739
284058	KANSL1	Failure to thrive	HP:0001508
284058	KANSL1	Pyloric stenosis	HP:0002021
284058	KANSL1	Strabismus	HP:0000486
284058	KANSL1	Joint hypermobility	HP:0001382
284058	KANSL1	Spondylolisthesis	HP:0003302
284058	KANSL1	Intrauterine growth retardation	HP:0001511
284058	KANSL1	Impulsivity	HP:0100710
284058	KANSL1	Everted lower lip vermilion	HP:0000232
284058	KANSL1	Hip dysplasia	HP:0001385
284058	KANSL1	Pulmonic stenosis	HP:0001642
284058	KANSL1	Gray matter heterotopia	HP:0002282
284058	KANSL1	Small for gestational age	HP:0001518
284058	KANSL1	Delayed speech and language development	HP:0000750
284058	KANSL1	Bicuspid aortic valve	HP:0001647
284058	KANSL1	Prominent metopic ridge	HP:0005487
284058	KANSL1	Global developmental delay	HP:0001263
284058	KANSL1	Hyperactivity	HP:0000752
284058	KANSL1	Variable expressivity	HP:0003828
284058	KANSL1	Hypotrophy of the small hand muscles	HP:0006006
284058	KANSL1	Kyphosis	HP:0002808
284058	KANSL1	Ptosis	HP:0000508
284058	KANSL1	Microcephaly	HP:0000252
284058	KANSL1	Hydronephrosis	HP:0000126
284058	KANSL1	Pectus excavatum	HP:0000767
120227	CYP2R1	Sparse bone trabeculae	HP:0002752
120227	CYP2R1	Thin bony cortex	HP:0002753
120227	CYP2R1	Bulging epiphyses	HP:0003013
120227	CYP2R1	Recurrent fractures	HP:0002757
120227	CYP2R1	Fibular bowing	HP:0010502
120227	CYP2R1	Autosomal recessive inheritance	HP:0000007
120227	CYP2R1	Infantile onset	HP:0003593
120227	CYP2R1	Generalized hypotonia	HP:0001290
120227	CYP2R1	Enlargement of the wrists	HP:0003020
120227	CYP2R1	Widely patent fontanelles and sutures	HP:0004492
120227	CYP2R1	Metaphyseal irregularity	HP:0003025
120227	CYP2R1	Elevated alkaline phosphatase	HP:0003155
120227	CYP2R1	Enlargement of the ankles	HP:0003029
120227	CYP2R1	Frontal bossing	HP:0002007
120227	CYP2R1	Enlargement of the costochondral junction	HP:0000920
120227	CYP2R1	Bone pain	HP:0002653
120227	CYP2R1	Flat occiput	HP:0005469
120227	CYP2R1	Bowing of the legs	HP:0002979
120227	CYP2R1	Femoral bowing	HP:0002980
120227	CYP2R1	Hypophosphatemia	HP:0002148
120227	CYP2R1	Failure to thrive	HP:0001508
120227	CYP2R1	Muscular hypotonia	HP:0001252
120227	CYP2R1	Growth delay	HP:0001510
120227	CYP2R1	Tibial bowing	HP:0002982
120227	CYP2R1	Delayed epiphyseal ossification	HP:0002663
120227	CYP2R1	Muscle weakness	HP:0001324
120227	CYP2R1	Difficulty standing	HP:0003698
120227	CYP2R1	Difficulty walking	HP:0002355
120227	CYP2R1	Deformed rib cage	HP:0000886
120227	CYP2R1	Rickets	HP:0002748
120227	CYP2R1	Bulging of the costochondral junction	HP:0000893
5538	PPT1	Loss of speech	HP:0002371
5538	PPT1	Autosomal recessive inheritance	HP:0000007
5538	PPT1	Optic atrophy	HP:0000648
5538	PPT1	Generalized hypotonia	HP:0001290
5538	PPT1	Cerebral atrophy	HP:0002059
5538	PPT1	Depressivity	HP:0000716
5538	PPT1	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
5538	PPT1	Progressive visual loss	HP:0000529
5538	PPT1	Abnormality of metabolism/homeostasis	HP:0001939
5538	PPT1	Onset	HP:0003674
5538	PPT1	Increased neuronal autofluorescent lipopigment	HP:0002074
5538	PPT1	Flexion contracture	HP:0001371
5538	PPT1	Macular degeneration	HP:0000608
5538	PPT1	Intellectual disability	HP:0001249
5538	PPT1	Irritability	HP:0000737
5538	PPT1	Seizures	HP:0001250
5538	PPT1	Hallucinations	HP:0000738
5538	PPT1	Ataxia	HP:0001251
5538	PPT1	Muscular hypotonia	HP:0001252
5538	PPT1	Undetectable electroretinogram	HP:0000550
5538	PPT1	Spasticity	HP:0001257
5538	PPT1	Blindness	HP:0000618
5538	PPT1	Postnatal microcephaly	HP:0005484
5538	PPT1	Global developmental delay	HP:0001263
5538	PPT1	EEG abnormality	HP:0002353
5538	PPT1	Sleep disturbance	HP:0002360
5538	PPT1	Myoclonus	HP:0001336
5538	PPT1	Psychomotor deterioration	HP:0002361
5538	PPT1	Progressive microcephaly	HP:0000253
144811	LACC1	Hepatomegaly	HP:0002240
144811	LACC1	Pericarditis	HP:0001701
144811	LACC1	Joint swelling	HP:0001386
144811	LACC1	Abdominal pain	HP:0002027
144811	LACC1	Arthralgia	HP:0002829
144811	LACC1	Elevated erythrocyte sedimentation rate	HP:0003565
144811	LACC1	Splenomegaly	HP:0001744
144811	LACC1	Autoimmunity	HP:0002960
144811	LACC1	Juvenile rheumatoid arthritis	HP:0005681
144811	LACC1	Fever	HP:0001945
144811	LACC1	Anterior uveitis	HP:0012122
144811	LACC1	Pleural effusion	HP:0002202
144811	LACC1	Elevated C-reactive protein level	HP:0011227
144811	LACC1	Skin rash	HP:0000988
144811	LACC1	Lymphadenopathy	HP:0002716
5546	PRCC	Incomplete penetrance	HP:0003829
5546	PRCC	Autosomal dominant inheritance	HP:0000006
5546	PRCC	Papillary renal cell carcinoma	HP:0006766
5551	PRF1	Hepatomegaly	HP:0002240
5551	PRF1	Hypoalbuminemia	HP:0003073
5551	PRF1	Hypoproteinemia	HP:0003075
5551	PRF1	CSF pleocytosis	HP:0012229
5551	PRF1	Generalized edema	HP:0007430
5551	PRF1	Autosomal recessive inheritance	HP:0000007
5551	PRF1	Meningitis	HP:0001287
5551	PRF1	Generalized hypotonia	HP:0001290
5551	PRF1	Tetraplegia	HP:0002445
5551	PRF1	Encephalitis	HP:0002383
5551	PRF1	Splenomegaly	HP:0001744
5551	PRF1	Thrombocytopenia	HP:0001873
5551	PRF1	Increased serum ferritin	HP:0003281
5551	PRF1	Increased intracranial pressure	HP:0002516
5551	PRF1	Hyponatremia	HP:0002902
5551	PRF1	Prolonged prothrombin time	HP:0008151
5551	PRF1	Bone marrow hypocellularity	HP:0005528
5551	PRF1	Leukopenia	HP:0001882
5551	PRF1	Lymphadenopathy	HP:0002716
5551	PRF1	Irritability	HP:0000737
5551	PRF1	Seizures	HP:0001250
5551	PRF1	Ataxia	HP:0001251
5551	PRF1	Failure to thrive	HP:0001508
5551	PRF1	Lymphoma	HP:0002665
5551	PRF1	Increased CSF protein	HP:0002922
5551	PRF1	Hypertriglyceridemia	HP:0002155
5551	PRF1	Coma	HP:0001259
5551	PRF1	Anemia	HP:0001903
5551	PRF1	Global developmental delay	HP:0001263
5551	PRF1	Increased total bilirubin	HP:0003573
5551	PRF1	Jaundice	HP:0000952
5551	PRF1	Aplastic anemia	HP:0001915
5551	PRF1	Hemophagocytosis	HP:0012156
5551	PRF1	Hypofibrinogenemia	HP:0011900
5551	PRF1	Hypertonia	HP:0001276
5551	PRF1	Hemiplegia	HP:0002301
54704	PDP1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
54704	PDP1	Intellectual disability	HP:0001249
54704	PDP1	Seizures	HP:0001250
54704	PDP1	Gait ataxia	HP:0002066
54704	PDP1	Muscular hypotonia	HP:0001252
54704	PDP1	Autosomal recessive inheritance	HP:0000007
54704	PDP1	Lactic acidosis	HP:0003128
54704	PDP1	Infantile onset	HP:0003593
54704	PDP1	Generalized hypotonia	HP:0001290
54704	PDP1	Dysphagia	HP:0002015
54704	PDP1	Global developmental delay	HP:0001263
54704	PDP1	Nystagmus	HP:0000639
284086	NEK8	Hepatomegaly	HP:0002240
284086	NEK8	Cystic renal dysplasia	HP:0000800
284086	NEK8	Situs inversus totalis	HP:0001696
284086	NEK8	Talipes equinovarus	HP:0001762
284086	NEK8	Femoral bowing	HP:0002980
284086	NEK8	Autosomal recessive inheritance	HP:0000007
284086	NEK8	Hypertrophic cardiomyopathy	HP:0001639
284086	NEK8	Pulmonary hypoplasia	HP:0002089
284086	NEK8	Enlarged kidney	HP:0000105
284086	NEK8	Pulmonic stenosis	HP:0001642
284086	NEK8	Aortic valve stenosis	HP:0001650
284086	NEK8	Asplenia	HP:0001746
284086	NEK8	Stillbirth	HP:0003826
284086	NEK8	Hepatic fibrosis	HP:0001395
284086	NEK8	Cholestasis	HP:0001396
284086	NEK8	Congenital onset	HP:0003577
284086	NEK8	Oligohydramnios	HP:0001562
284086	NEK8	Nephronophthisis	HP:0000090
284086	NEK8	Truncus arteriosus	HP:0001660
284086	NEK8	Renal cortical microcysts	HP:0004734
284086	NEK8	Stage 5 chronic kidney disease	HP:0003774
406960	MIR184	Microcornea	HP:0000482
406960	MIR184	Astigmatism	HP:0000483
406960	MIR184	Keratoconus	HP:0000563
406960	MIR184	Autosomal dominant inheritance	HP:0000006
406960	MIR184	Developmental cataract	HP:0000519
406960	MIR184	Hypoplasia of the iris	HP:0007676
406960	MIR184	Reduced visual acuity	HP:0007663
54714	CNGB3	Abnormal electroretinogram	HP:0000512
54714	CNGB3	Exotropia	HP:0000577
54714	CNGB3	Abnormality of macular pigmentation	HP:0008002
54714	CNGB3	Horizontal pendular nystagmus	HP:0007811
54714	CNGB3	Blue cone monochromacy	HP:0007939
54714	CNGB3	Retinal pigment epithelial mottling	HP:0007814
54714	CNGB3	Cataract	HP:0000518
54714	CNGB3	Hypoplasia of the fovea	HP:0007750
54714	CNGB3	Autosomal recessive inheritance	HP:0000007
54714	CNGB3	Abnormality of visual evoked potentials	HP:0000649
54714	CNGB3	Pendular nystagmus	HP:0012043
54714	CNGB3	Nyctalopia	HP:0000662
54714	CNGB3	Abnormality of retinal pigmentation	HP:0007703
54714	CNGB3	Paroxysmal involuntary eye movements	HP:0007704
54714	CNGB3	Dyschromatopsia	HP:0007641
54714	CNGB3	Central scotoma	HP:0000603
54714	CNGB3	Hypermetropia	HP:0000540
54714	CNGB3	Macular degeneration	HP:0000608
54714	CNGB3	Abnormal choroid morphology	HP:0000610
54714	CNGB3	Attenuation of retinal blood vessels	HP:0007843
54714	CNGB3	Retinitis pigmentosa inversa	HP:0008035
54714	CNGB3	Yellow/white lesions of the macula	HP:0030500
54714	CNGB3	Photophobia	HP:0000613
54714	CNGB3	Color vision defect	HP:0000551
54714	CNGB3	Retinal pigment epithelial atrophy	HP:0007722
54714	CNGB3	Abnormal foveal morphology	HP:0000493
54714	CNGB3	Reduced visual acuity	HP:0007663
54714	CNGB3	Bull's eye maculopathy	HP:0011504
54714	CNGB3	Granular macular appearance	HP:0007793
54714	CNGB3	Severely reduced visual acuity	HP:0001141
54714	CNGB3	Retinal thinning	HP:0030329
54714	CNGB3	Visual impairment	HP:0000505
54714	CNGB3	Aplasia/Hypoplasia of the macula	HP:0008059
54714	CNGB3	Monochromacy	HP:0007803
54714	CNGB3	High myopia	HP:0011003
54714	CNGB3	Achromatopsia	HP:0011516
54716	SLC6A20	Calcium oxalate nephrolithiasis	HP:0008672
54716	SLC6A20	Intellectual disability	HP:0001249
54716	SLC6A20	Prolinuria	HP:0003137
54716	SLC6A20	Hyperglycinuria	HP:0003108
54716	SLC6A20	Autosomal dominant inheritance	HP:0000006
54716	SLC6A20	Autosomal recessive inheritance	HP:0000007
54716	SLC6A20	Hydroxyprolinuria	HP:0003080
54716	SLC6A20	Abnormality of the eye	HP:0000478
5566	PRKACA	Skeletal muscle atrophy	HP:0003202
5566	PRKACA	Thin skin	HP:0000963
5566	PRKACA	Fragile skin	HP:0001030
5566	PRKACA	Autosomal dominant inheritance	HP:0000006
5566	PRKACA	Hypogonadism	HP:0000135
5566	PRKACA	Emotional lability	HP:0000712
5566	PRKACA	Depressivity	HP:0000716
5566	PRKACA	Bruising susceptibility	HP:0000978
5566	PRKACA	Fatigue	HP:0012378
5566	PRKACA	Adrenal hyperplasia	HP:0008221
5566	PRKACA	Short stature	HP:0004322
5566	PRKACA	Increased susceptibility to fractures	HP:0002659
5566	PRKACA	Increased body weight	HP:0004324
5566	PRKACA	Acne	HP:0001061
5566	PRKACA	Dorsocervical fat pad	HP:0025383
5566	PRKACA	Striae distensae	HP:0001065
5566	PRKACA	Osteopenia	HP:0000938
5566	PRKACA	Osteoporosis	HP:0000939
5566	PRKACA	Primary hypercortisolism	HP:0001579
5566	PRKACA	Pigmented micronodular adrenocortical disease	HP:0001580
5566	PRKACA	Muscle weakness	HP:0001324
5566	PRKACA	Moon facies	HP:0500011
5566	PRKACA	Hirsutism	HP:0001007
5566	PRKACA	Diabetes mellitus	HP:0000819
5566	PRKACA	Proximal muscle weakness	HP:0003701
5566	PRKACA	Hypertension	HP:0000822
5566	PRKACA	Alopecia	HP:0001596
5566	PRKACA	Slender build	HP:0001533
5566	PRKACA	Myopathy	HP:0003198
5568	PRKACG	Menorrhagia	HP:0000132
5568	PRKACG	Epistaxis	HP:0000421
5568	PRKACG	Autosomal recessive inheritance	HP:0000007
5568	PRKACG	Macrothrombocytopenia	HP:0040185
5568	PRKACG	Spontaneous hematomas	HP:0007420
5568	PRKACG	Anemia	HP:0001903
95681	CEP41	Autosomal recessive inheritance	HP:0000007
95681	CEP41	Gait disturbance	HP:0001288
95681	CEP41	Hand polydactyly	HP:0001161
95681	CEP41	Generalized hypotonia	HP:0001290
95681	CEP41	Abnormal vertebral morphology	HP:0003468
95681	CEP41	Oculomotor apraxia	HP:0000657
95681	CEP41	Long face	HP:0000276
95681	CEP41	Situs inversus totalis	HP:0001696
95681	CEP41	Encephalocele	HP:0002084
95681	CEP41	Foot polydactyly	HP:0001829
95681	CEP41	Cerebellar vermis hypoplasia	HP:0001320
95681	CEP41	Feeding difficulties in infancy	HP:0008872
95681	CEP41	Prominent nasal bridge	HP:0000426
95681	CEP41	Retinal dystrophy	HP:0000556
95681	CEP41	Cleft palate	HP:0000175
95681	CEP41	Micropenis	HP:0000054
95681	CEP41	Apnea	HP:0002104
95681	CEP41	Tremor	HP:0001337
95681	CEP41	Visual loss	HP:0000572
95681	CEP41	Episodic tachypnea	HP:0002876
95681	CEP41	Ambiguous genitalia	HP:0000062
95681	CEP41	Feeding difficulties	HP:0011968
95681	CEP41	Biparietal narrowing	HP:0004422
95681	CEP41	Polydactyly	HP:0010442
95681	CEP41	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
95681	CEP41	Oral cleft	HP:0000202
95681	CEP41	Aganglionic megacolon	HP:0002251
95681	CEP41	Polymicrogyria	HP:0002126
95681	CEP41	Anteverted nares	HP:0000463
95681	CEP41	Scoliosis	HP:0002650
95681	CEP41	Nephronophthisis	HP:0000090
95681	CEP41	Retinal coloboma	HP:0000480
95681	CEP41	Abnormality of the hypothalamus-pituitary axis	HP:0000864
95681	CEP41	Intellectual disability	HP:0001249
95681	CEP41	Seizures	HP:0001250
95681	CEP41	Ataxia	HP:0001251
95681	CEP41	Muscular hypotonia	HP:0001252
95681	CEP41	Iris coloboma	HP:0000612
95681	CEP41	Strabismus	HP:0000486
95681	CEP41	Retinopathy	HP:0000488
95681	CEP41	Hydrocephalus	HP:0000238
95681	CEP41	Global developmental delay	HP:0001263
95681	CEP41	Low-set, posteriorly rotated ears	HP:0000368
95681	CEP41	Abnormal form of the vertebral bodies	HP:0003312
95681	CEP41	Low-set ears	HP:0000369
95681	CEP41	Molar tooth sign on MRI	HP:0002419
95681	CEP41	Dextrocardia	HP:0001651
95681	CEP41	Highly arched eyebrow	HP:0002553
95681	CEP41	Agenesis of corpus callosum	HP:0001274
95681	CEP41	Ptosis	HP:0000508
95681	CEP41	Nystagmus	HP:0000639
5573	PRKAR1A	Narrow vertebral interpedicular distance	HP:0008450
5573	PRKAR1A	Ascites	HP:0001541
5573	PRKAR1A	Autosomal dominant inheritance	HP:0000006
5573	PRKAR1A	Autosomal recessive inheritance	HP:0000007
5573	PRKAR1A	Sertoli cell neoplasm	HP:0100619
5573	PRKAR1A	Dislocated radial head	HP:0003083
5573	PRKAR1A	Malar flattening	HP:0000272
5573	PRKAR1A	Midface retrusion	HP:0011800
5573	PRKAR1A	Histiocytoma	HP:0012315
5573	PRKAR1A	Recurrent paroxysmal headache	HP:0002331
5573	PRKAR1A	Cryptorchidism	HP:0000028
5573	PRKAR1A	Adrenal hyperplasia	HP:0008221
5573	PRKAR1A	Epicanthus	HP:0000286
5573	PRKAR1A	Hypoplastic vertebral bodies	HP:0008479
5573	PRKAR1A	Uterine neoplasm	HP:0010784
5573	PRKAR1A	Thyroid follicular hyperplasia	HP:0008225
5573	PRKAR1A	Bacterial endocarditis	HP:0006689
5573	PRKAR1A	Abnormality of circulating adrenocorticotropin level	HP:0011043
5573	PRKAR1A	Pulmonic valve myxoma	HP:0006691
5573	PRKAR1A	Hypoplasia of the nasal bone	HP:0004646
5573	PRKAR1A	Short toe	HP:0001831
5573	PRKAR1A	Mood changes	HP:0001575
5573	PRKAR1A	Striae distensae	HP:0001065
5573	PRKAR1A	Primary hypercortisolism	HP:0001579
5573	PRKAR1A	Pigmented micronodular adrenocortical disease	HP:0001580
5573	PRKAR1A	Muscle weakness	HP:0001324
5573	PRKAR1A	Increased circulating cortisol level	HP:0003118
5573	PRKAR1A	Hypospadias	HP:0000047
5573	PRKAR1A	Mandibular prognathia	HP:0000303
5573	PRKAR1A	Specific learning disability	HP:0001328
5573	PRKAR1A	Congenital craniofacial dysostosis	HP:0008497
5573	PRKAR1A	Diabetes mellitus	HP:0000819
5573	PRKAR1A	Hypertension	HP:0000822
5573	PRKAR1A	Round face	HP:0000311
5573	PRKAR1A	Abnormality of female external genitalia	HP:0000055
5573	PRKAR1A	Open bite	HP:0010807
5573	PRKAR1A	Long hallux	HP:0001847
5573	PRKAR1A	Growth hormone deficiency	HP:0000824
5573	PRKAR1A	Exertional dyspnea	HP:0002875
5573	PRKAR1A	Easy fatigability	HP:0003388
5573	PRKAR1A	Tricuspid regurgitation	HP:0005180
5573	PRKAR1A	Hypertelorism	HP:0000316
5573	PRKAR1A	Abnormality of the nail	HP:0001597
5573	PRKAR1A	Short metacarpal	HP:0010049
5573	PRKAR1A	Hypoplasia of the maxilla	HP:0000327
5573	PRKAR1A	Thyroid carcinoma	HP:0002890
5573	PRKAR1A	Short phalanx of finger	HP:0009803
5573	PRKAR1A	Growth hormone excess	HP:0000845
5573	PRKAR1A	Pituitary adenoma	HP:0002893
5573	PRKAR1A	Absent/hypoplastic paranasal sinuses	HP:0005453
5573	PRKAR1A	Neoplasm of the pancreas	HP:0002894
5573	PRKAR1A	Hypertension associated with pheochromocytoma	HP:0002640
5573	PRKAR1A	Dilatation of the cerebral artery	HP:0004944
5573	PRKAR1A	Parathyroid adenoma	HP:0002897
5573	PRKAR1A	Congenital hypothyroidism	HP:0000851
5573	PRKAR1A	Cone-shaped epiphysis	HP:0010579
5573	PRKAR1A	Pseudohypoparathyroidism	HP:0000852
5573	PRKAR1A	Hypocalcemia	HP:0002901
5573	PRKAR1A	Thyroid adenoma	HP:0000854
5573	PRKAR1A	Adrenocortical carcinoma	HP:0006744
5573	PRKAR1A	Spinal canal stenosis	HP:0003416
5573	PRKAR1A	Hyperphosphatemia	HP:0002905
5573	PRKAR1A	Scoliosis	HP:0002650
5573	PRKAR1A	Onset	HP:0003674
5573	PRKAR1A	Fatigue	HP:0012378
5573	PRKAR1A	Menstrual irregularities	HP:0000858
5573	PRKAR1A	Adrenal pheochromocytoma	HP:0006748
5573	PRKAR1A	Elevated circulating parathyroid hormone level	HP:0003165
5573	PRKAR1A	Stomach cancer	HP:0012126
5573	PRKAR1A	Congestive heart failure	HP:0001635
5573	PRKAR1A	Increased susceptibility to fractures	HP:0002659
5573	PRKAR1A	Peripheral neuropathy	HP:0009830
5573	PRKAR1A	Cardiomegaly	HP:0001640
5573	PRKAR1A	Decreased circulating ACTH level	HP:0002920
5573	PRKAR1A	Pheochromocytoma	HP:0002666
5573	PRKAR1A	Hearing impairment	HP:0000365
5573	PRKAR1A	Pituitary prolactin cell adenoma	HP:0006767
5573	PRKAR1A	Myxoid subcutaneous tumors	HP:0006769
5573	PRKAR1A	Thromboembolism	HP:0001907
5573	PRKAR1A	Vestibular Schwannoma	HP:0009588
5573	PRKAR1A	Peripheral Schwannoma	HP:0009593
5573	PRKAR1A	Fibroadenoma of the breast	HP:0010619
5573	PRKAR1A	Bronchogenic cyst	HP:0100730
5573	PRKAR1A	Blue irides	HP:0000635
5573	PRKAR1A	Short nose	HP:0003196
5573	PRKAR1A	Neonatal epiphyseal stippling	HP:0005756
5573	PRKAR1A	Myopathy	HP:0003198
5573	PRKAR1A	Skeletal muscle atrophy	HP:0003202
5573	PRKAR1A	Brachydactyly	HP:0001156
5573	PRKAR1A	Hypogonadism	HP:0000135
5573	PRKAR1A	Optic atrophy	HP:0000648
5573	PRKAR1A	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0003466
5573	PRKAR1A	Calvarial hyperostosis	HP:0004490
5573	PRKAR1A	Chest pain	HP:0100749
5573	PRKAR1A	Heterogeneous	HP:0001425
5573	PRKAR1A	Broad palm	HP:0001169
5573	PRKAR1A	Abnormal prolactin level	HP:0040086
5573	PRKAR1A	Cardiac myxoma	HP:0011672
5573	PRKAR1A	Pigmentation of the sclera	HP:0007832
5573	PRKAR1A	Fever	HP:0001945
5573	PRKAR1A	Hypodontia	HP:0000668
5573	PRKAR1A	Epiphyseal stippling	HP:0010655
5573	PRKAR1A	Depressed nasal bridge	HP:0005280
5573	PRKAR1A	Truncal obesity	HP:0001956
5573	PRKAR1A	Micromelia	HP:0002983
5573	PRKAR1A	Hypoplasia of the radius	HP:0002984
5573	PRKAR1A	Schwannoma	HP:0100008
5573	PRKAR1A	Disproportionate short-limb short stature	HP:0008873
5573	PRKAR1A	Osteopenia	HP:0000938
5573	PRKAR1A	Osteoporosis	HP:0000939
5573	PRKAR1A	Delayed eruption of teeth	HP:0000684
5573	PRKAR1A	Mild short stature	HP:0003502
5573	PRKAR1A	Wide nasal bridge	HP:0000431
5573	PRKAR1A	Dental malocclusion	HP:0000689
5573	PRKAR1A	Nevus	HP:0003764
5573	PRKAR1A	Short palm	HP:0004279
5573	PRKAR1A	Jaundice	HP:0000952
5573	PRKAR1A	Cerebral venous thrombosis	HP:0005305
5573	PRKAR1A	Colon cancer	HP:0003003
5573	PRKAR1A	Cafe-au-lait spot	HP:0000957
5573	PRKAR1A	Open mouth	HP:0000194
5573	PRKAR1A	Thin skin	HP:0000963
5573	PRKAR1A	Heart murmur	HP:0030148
5573	PRKAR1A	Psychosis	HP:0000709
5573	PRKAR1A	Broad nasal tip	HP:0000455
5573	PRKAR1A	Freckling	HP:0001480
5573	PRKAR1A	Elevated calcitonin	HP:0003528
5573	PRKAR1A	Agitation	HP:0000713
5573	PRKAR1A	Depressed nasal ridge	HP:0000457
5573	PRKAR1A	Depressivity	HP:0000716
5573	PRKAR1A	Autism	HP:0000717
5573	PRKAR1A	Hypoplasia of the ulna	HP:0003022
5573	PRKAR1A	Blue nevus	HP:0100814
5573	PRKAR1A	Anteverted nares	HP:0000463
5573	PRKAR1A	Bruising susceptibility	HP:0000978
5573	PRKAR1A	Profuse pigmented skin lesions	HP:0005587
5573	PRKAR1A	Increased intracranial pressure	HP:0002516
5573	PRKAR1A	Abnormality of the eye	HP:0000478
5573	PRKAR1A	Osteochondroma	HP:0030431
5573	PRKAR1A	Intellectual disability	HP:0001249
5573	PRKAR1A	Short stature	HP:0004322
5573	PRKAR1A	Abnormality of immune system physiology	HP:0010978
5573	PRKAR1A	Enlarged polycystic ovaries	HP:0008675
5573	PRKAR1A	Anxiety	HP:0000739
5573	PRKAR1A	Melanocytic nevus	HP:0000995
5573	PRKAR1A	Strabismus	HP:0000486
5573	PRKAR1A	Intrauterine growth retardation	HP:0001511
5573	PRKAR1A	Obesity	HP:0001513
5573	PRKAR1A	Multiple lentigines	HP:0001003
5573	PRKAR1A	Fair hair	HP:0002286
5573	PRKAR1A	Delayed speech and language development	HP:0000750
5573	PRKAR1A	Hydrocephalus	HP:0000238
5573	PRKAR1A	Hirsutism	HP:0001007
5573	PRKAR1A	Global developmental delay	HP:0001263
5573	PRKAR1A	Pituitary growth hormone cell adenoma	HP:0011760
5573	PRKAR1A	Hyperactivity	HP:0000752
5573	PRKAR1A	Accelerated skeletal maturation	HP:0005616
5573	PRKAR1A	Abnormal form of the vertebral bodies	HP:0003312
5573	PRKAR1A	Mental deterioration	HP:0001268
5573	PRKAR1A	Pedal edema	HP:0010741
5573	PRKAR1A	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
5573	PRKAR1A	Short metatarsal	HP:0010743
5573	PRKAR1A	Kyphosis	HP:0002808
5573	PRKAR1A	Brachycephaly	HP:0000248
5573	PRKAR1A	Red hair	HP:0002297
5573	PRKAR1A	Mild postnatal growth retardation	HP:0001530
5573	PRKAR1A	Hepatocellular adenoma	HP:0012028
5573	PRKAR1A	Slender build	HP:0001533
5573	PRKAR1A	Increased urinary cortisol level	HP:0012030
136647	MPLKIP	Small nail	HP:0001792
136647	MPLKIP	Sparse hair	HP:0008070
136647	MPLKIP	Autosomal recessive inheritance	HP:0000007
136647	MPLKIP	Optic atrophy	HP:0000648
136647	MPLKIP	Cerebral cortical atrophy	HP:0002120
136647	MPLKIP	Keratoconjunctivitis sicca	HP:0001097
136647	MPLKIP	Psychomotor retardation	HP:0025356
136647	MPLKIP	Sparse eyelashes	HP:0000653
136647	MPLKIP	Anteverted nares	HP:0000463
136647	MPLKIP	Decreased fertility	HP:0000144
136647	MPLKIP	Macrotia	HP:0000400
136647	MPLKIP	Retrognathia	HP:0000278
136647	MPLKIP	Ventricular septal defect	HP:0001629
136647	MPLKIP	Trichorrhexis nodosa	HP:0009886
136647	MPLKIP	Epicanthus	HP:0000286
136647	MPLKIP	Intellectual disability	HP:0001249
136647	MPLKIP	Microcornea	HP:0000482
136647	MPLKIP	Growth delay	HP:0001510
136647	MPLKIP	Hypoplasia of teeth	HP:0000685
136647	MPLKIP	Severe muscular hypotonia	HP:0006829
136647	MPLKIP	Global developmental delay	HP:0001263
136647	MPLKIP	Woolly hair	HP:0002224
136647	MPLKIP	Microphthalmia	HP:0000568
136647	MPLKIP	Partial agenesis of the corpus callosum	HP:0001338
136647	MPLKIP	Brittle hair	HP:0002299
136647	MPLKIP	Microcephaly	HP:0000252
136647	MPLKIP	Short nose	HP:0003196
136647	MPLKIP	Concave nail	HP:0001598
136647	MPLKIP	Nystagmus	HP:0000639
284098	PIGW	Absent speech	HP:0001344
284098	PIGW	Intellectual disability	HP:0001249
284098	PIGW	Seizures	HP:0001250
284098	PIGW	Elevated alkaline phosphatase	HP:0003155
284098	PIGW	Tented upper lip vermilion	HP:0010804
284098	PIGW	Autosomal recessive inheritance	HP:0000007
284098	PIGW	Hypsarrhythmia	HP:0002521
284098	PIGW	Macroglossia	HP:0000158
284098	PIGW	Global developmental delay	HP:0001263
284098	PIGW	Wide nasal bridge	HP:0000431
390594	KBTBD13	EMG: myopathic abnormalities	HP:0003458
390594	KBTBD13	Areflexia	HP:0001284
390594	KBTBD13	Autosomal dominant inheritance	HP:0000006
390594	KBTBD13	Narrow chest	HP:0000774
390594	KBTBD13	Gait disturbance	HP:0001288
390594	KBTBD13	Clumsiness	HP:0002312
390594	KBTBD13	Neck flexor weakness	HP:0003722
390594	KBTBD13	Generalized hypotonia	HP:0001290
390594	KBTBD13	Bradykinesia	HP:0002067
390594	KBTBD13	Narrow face	HP:0000275
390594	KBTBD13	Neuromuscular dysphagia	HP:0002068
390594	KBTBD13	Long face	HP:0000276
390594	KBTBD13	Polyhydramnios	HP:0001561
390594	KBTBD13	Bulbar signs	HP:0002483
390594	KBTBD13	Difficulty walking	HP:0002355
390594	KBTBD13	Respiratory insufficiency due to muscle weakness	HP:0002747
390594	KBTBD13	Hypertelorism	HP:0000316
390594	KBTBD13	Feeding difficulties	HP:0011968
390594	KBTBD13	Facial diplegia	HP:0001349
390594	KBTBD13	Fetal akinesia sequence	HP:0001989
390594	KBTBD13	Neck muscle weakness	HP:0000467
390594	KBTBD13	Waddling gait	HP:0002515
390594	KBTBD13	Nemaline bodies	HP:0003798
390594	KBTBD13	Difficulty running	HP:0009046
390594	KBTBD13	Breech presentation	HP:0001623
390594	KBTBD13	Exercise intolerance	HP:0003546
390594	KBTBD13	High palate	HP:0000218
390594	KBTBD13	Scoliosis	HP:0002650
390594	KBTBD13	Type 1 muscle fiber predominance	HP:0003803
390594	KBTBD13	Micrognathia	HP:0000347
390594	KBTBD13	Slow progression	HP:0003677
390594	KBTBD13	Difficulty climbing stairs	HP:0003551
390594	KBTBD13	Generalized limb muscle atrophy	HP:0009055
390594	KBTBD13	Muscle stiffness	HP:0003552
390594	KBTBD13	Pes cavus	HP:0001761
390594	KBTBD13	Increased muscle lipid content	HP:0009058
390594	KBTBD13	Increased variability in muscle fiber diameter	HP:0003557
390594	KBTBD13	Cardiomyopathy	HP:0001638
390594	KBTBD13	Reduced vital capacity	HP:0002792
390594	KBTBD13	Limb muscle weakness	HP:0003690
390594	KBTBD13	Spinal rigidity	HP:0003306
390594	KBTBD13	Scapular winging	HP:0003691
390594	KBTBD13	Fatigable weakness of bulbar muscles	HP:0030192
390594	KBTBD13	Hyporeflexia	HP:0001265
390594	KBTBD13	Mildly elevated creatine kinase	HP:0008180
390594	KBTBD13	Arthrogryposis multiplex congenita	HP:0002804
390594	KBTBD13	Motor delay	HP:0001270
390594	KBTBD13	Ptosis	HP:0000508
390594	KBTBD13	Slender build	HP:0001533
390594	KBTBD13	Myopathy	HP:0003198
5575	PRKAR1B	Short attention span	HP:0000736
5575	PRKAR1B	Muscle stiffness	HP:0003552
5575	PRKAR1B	Frontotemporal dementia	HP:0002145
5575	PRKAR1B	Anxiety	HP:0000739
5575	PRKAR1B	Apathy	HP:0000741
5575	PRKAR1B	Inertia	HP:0030216
5575	PRKAR1B	Impaired visuospatial constructive cognition	HP:0010794
5575	PRKAR1B	Diffuse cerebral atrophy	HP:0002506
5575	PRKAR1B	Frontotemporal cerebral atrophy	HP:0006892
5575	PRKAR1B	Short stepped shuffling gait	HP:0007311
5575	PRKAR1B	Inappropriate behavior	HP:0000719
5575	PRKAR1B	Memory impairment	HP:0002354
5575	PRKAR1B	Bradykinesia	HP:0002067
5575	PRKAR1B	Parkinsonism	HP:0001300
5575	PRKAR1B	Abnormal neuron morphology	HP:0012757
5575	PRKAR1B	Postural instability	HP:0002172
5575	PRKAR1B	Motor deterioration	HP:0002333
5575	PRKAR1B	Language impairment	HP:0002463
5575	PRKAR1B	Falls	HP:0002527
284111	SLC13A5	Autosomal recessive inheritance	HP:0000007
284111	SLC13A5	Optic atrophy	HP:0000648
284111	SLC13A5	Generalized hypotonia	HP:0001290
284111	SLC13A5	Cerebral atrophy	HP:0002059
284111	SLC13A5	Unsteady gait	HP:0002317
284111	SLC13A5	Yellow-brown discoloration of the teeth	HP:0006286
284111	SLC13A5	Rigidity	HP:0002063
284111	SLC13A5	Encephalopathy	HP:0001298
284111	SLC13A5	Abnormality of metabolism/homeostasis	HP:0001939
284111	SLC13A5	Decreased fetal movement	HP:0001558
284111	SLC13A5	Hypodontia	HP:0000668
284111	SLC13A5	Abnormal myelination	HP:0012447
284111	SLC13A5	Delayed myelination	HP:0012448
284111	SLC13A5	Retinal degeneration	HP:0000546
284111	SLC13A5	Delayed eruption of teeth	HP:0000684
284111	SLC13A5	EEG abnormality	HP:0002353
284111	SLC13A5	Difficulty walking	HP:0002355
284111	SLC13A5	Dyskinesia	HP:0100660
284111	SLC13A5	Abnormality of movement	HP:0100022
284111	SLC13A5	Myoclonus	HP:0001336
284111	SLC13A5	Tremor	HP:0001337
284111	SLC13A5	Multifocal seizures	HP:0031165
284111	SLC13A5	Feeding difficulties	HP:0011968
284111	SLC13A5	Hepatomegaly	HP:0002240
284111	SLC13A5	Amelogenesis imperfecta	HP:0000705
284111	SLC13A5	Abnormality of the cerebral white matter	HP:0002500
284111	SLC13A5	Epileptic encephalopathy	HP:0200134
284111	SLC13A5	Hypohidrosis	HP:0000966
284111	SLC13A5	Ventriculomegaly	HP:0002119
284111	SLC13A5	Developmental regression	HP:0002376
284111	SLC13A5	Cerebral cortical atrophy	HP:0002120
284111	SLC13A5	Limb hypertonia	HP:0002509
284111	SLC13A5	Autism	HP:0000717
284111	SLC13A5	Involuntary movements	HP:0004305
284111	SLC13A5	Status epilepticus	HP:0002133
284111	SLC13A5	Dementia	HP:0000726
284111	SLC13A5	Hypsarrhythmia	HP:0002521
284111	SLC13A5	High forehead	HP:0000348
284111	SLC13A5	EEG with multifocal slow activity	HP:0010844
284111	SLC13A5	Intellectual disability	HP:0001249
284111	SLC13A5	Short stature	HP:0004322
284111	SLC13A5	Seizures	HP:0001250
284111	SLC13A5	Ataxia	HP:0001251
284111	SLC13A5	Gastroesophageal reflux	HP:0002020
284111	SLC13A5	Failure to thrive	HP:0001508
284111	SLC13A5	Muscular hypotonia	HP:0001252
284111	SLC13A5	Strabismus	HP:0000486
284111	SLC13A5	Impulsivity	HP:0100710
284111	SLC13A5	Muscular hypotonia of the trunk	HP:0008936
284111	SLC13A5	Spasticity	HP:0001257
284111	SLC13A5	Attention deficit hyperactivity disorder	HP:0007018
284111	SLC13A5	Downslanted palpebral fissures	HP:0000494
284111	SLC13A5	Delayed speech and language development	HP:0000750
284111	SLC13A5	Hydrocephalus	HP:0000238
284111	SLC13A5	Global developmental delay	HP:0001263
284111	SLC13A5	Intellectual disability, severe	HP:0010864
284111	SLC13A5	Hyporeflexia	HP:0001265
284111	SLC13A5	Mental deterioration	HP:0001268
284111	SLC13A5	Poor head control	HP:0002421
284111	SLC13A5	Neurological speech impairment	HP:0002167
284111	SLC13A5	Abnormality of vision	HP:0000504
284111	SLC13A5	Abnormal corpus callosum morphology	HP:0001273
284111	SLC13A5	Microcephaly	HP:0000252
284111	SLC13A5	Ptosis	HP:0000508
284111	SLC13A5	Nystagmus	HP:0000639
5580	PRKCD	Hepatomegaly	HP:0002240
5580	PRKCD	Chronic otitis media	HP:0000389
5580	PRKCD	Autosomal recessive inheritance	HP:0000007
5580	PRKCD	Infantile onset	HP:0003593
5580	PRKCD	Vasculitis	HP:0002633
5580	PRKCD	Arthralgia	HP:0002829
5580	PRKCD	Splenomegaly	HP:0001744
5580	PRKCD	Purpura	HP:0000979
5580	PRKCD	Recurrent bronchitis	HP:0002837
5580	PRKCD	Hemolytic anemia	HP:0001878
5580	PRKCD	Decreased antibody level in blood	HP:0004313
5580	PRKCD	Lymphocytosis	HP:0100827
5580	PRKCD	Lymphadenopathy	HP:0002716
5580	PRKCD	Elevated hepatic transaminase	HP:0002910
5580	PRKCD	Recurrent infections	HP:0002719
5580	PRKCD	Lymphopenia	HP:0001888
5580	PRKCD	Immunodeficiency	HP:0002721
5580	PRKCD	Membranous nephropathy	HP:0012578
5580	PRKCD	Nephrotic syndrome	HP:0000100
5580	PRKCD	Anal atresia	HP:0002023
5580	PRKCD	Lymphoma	HP:0002665
5580	PRKCD	Pneumonia	HP:0002090
5580	PRKCD	Restrictive ventilatory defect	HP:0002091
5580	PRKCD	Emphysema	HP:0002097
5580	PRKCD	Gastrointestinal stroma tumor	HP:0100723
5580	PRKCD	Autoimmune thrombocytopenia	HP:0001973
5580	PRKCD	Brachycephaly	HP:0000248
5580	PRKCD	Failure to thrive in infancy	HP:0001531
5580	PRKCD	Bronchiectasis	HP:0002110
5580	PRKCD	Posterior pharyngeal cleft	HP:0006783
406987	MIR204	Retinal atrophy	HP:0001105
406987	MIR204	Autosomal dominant inheritance	HP:0000006
406987	MIR204	Developmental cataract	HP:0000519
406987	MIR204	Posterior synechiae of the anterior chamber	HP:0011484
406987	MIR204	Reduced visual acuity	HP:0007663
5582	PRKCG	Saccadic smooth pursuit	HP:0001152
5582	PRKCG	Gaze-evoked nystagmus	HP:0000640
5582	PRKCG	Hyperreflexia	HP:0001347
5582	PRKCG	Autosomal dominant inheritance	HP:0000006
5582	PRKCG	Cerebellar vermis atrophy	HP:0006855
5582	PRKCG	Generalized hypotonia	HP:0001290
5582	PRKCG	Depressivity	HP:0000716
5582	PRKCG	Rigidity	HP:0002063
5582	PRKCG	Gait ataxia	HP:0002066
5582	PRKCG	Sensory impairment	HP:0003474
5582	PRKCG	Focal dystonia	HP:0004373
5582	PRKCG	Limb ataxia	HP:0002070
5582	PRKCG	Progressive cerebellar ataxia	HP:0002073
5582	PRKCG	Impaired vibration sensation at ankles	HP:0006938
5582	PRKCG	Slow progression	HP:0003677
5582	PRKCG	Dysmetria	HP:0001310
5582	PRKCG	Dysphagia	HP:0002015
5582	PRKCG	Hyporeflexia of lower limbs	HP:0002600
5582	PRKCG	Attention deficit hyperactivity disorder	HP:0007018
5582	PRKCG	Dysarthria	HP:0001260
5582	PRKCG	Memory impairment	HP:0002354
5582	PRKCG	Mental deterioration	HP:0001268
5582	PRKCG	Incomplete penetrance	HP:0003829
5582	PRKCG	Abnormality of the Achilles tendon	HP:0005109
5582	PRKCG	Cerebellar atrophy	HP:0001272
5582	PRKCG	Myoclonus	HP:0001336
5582	PRKCG	Tremor	HP:0001337
5582	PRKCG	Facial myokymia	HP:0000317
5582	PRKCG	Cognitive impairment	HP:0100543
5582	PRKCG	Nystagmus	HP:0000639
284119	CAVIN1	Skeletal muscle hypertrophy	HP:0003712
284119	CAVIN1	Autosomal recessive inheritance	HP:0000007
284119	CAVIN1	Muscle mounding	HP:0003719
284119	CAVIN1	Prominent umbilicus	HP:0001544
284119	CAVIN1	Infantile onset	HP:0003593
284119	CAVIN1	Abnormal circulating creatine kinase concentration	HP:0040081
284119	CAVIN1	Polycystic ovaries	HP:0000147
284119	CAVIN1	Large hands	HP:0001176
284119	CAVIN1	Exercise-induced myalgia	HP:0003738
284119	CAVIN1	Bone cyst	HP:0012062
284119	CAVIN1	Recurrent infections	HP:0002719
284119	CAVIN1	Decreased circulating IgA level	HP:0002720
284119	CAVIN1	Immunodeficiency	HP:0002721
284119	CAVIN1	Ileus	HP:0002595
284119	CAVIN1	Abnormal oral cavity morphology	HP:0000163
284119	CAVIN1	Elevated serum creatine kinase	HP:0003236
284119	CAVIN1	Lipodystrophy	HP:0009125
284119	CAVIN1	Osteopenia	HP:0000938
284119	CAVIN1	Palpitations	HP:0001962
284119	CAVIN1	Osteoporosis	HP:0000939
284119	CAVIN1	Pulmonary arterial hypertension	HP:0002092
284119	CAVIN1	Mandibular prognathia	HP:0000303
284119	CAVIN1	Ventricular hypertrophy	HP:0001714
284119	CAVIN1	Loss of subcutaneous adipose tissue in limbs	HP:0003635
284119	CAVIN1	Diabetes mellitus	HP:0000819
284119	CAVIN1	Abnormality of skeletal muscle fiber size	HP:0012084
284119	CAVIN1	Generalized hirsutism	HP:0002230
284119	CAVIN1	Growth hormone deficiency	HP:0000824
284119	CAVIN1	Dilatation	HP:0002617
284119	CAVIN1	Precocious puberty	HP:0000826
284119	CAVIN1	Acanthosis nigricans	HP:0000956
284119	CAVIN1	Atherosclerosis	HP:0002621
284119	CAVIN1	Delayed skeletal maturation	HP:0002750
284119	CAVIN1	Feeding difficulties	HP:0011968
284119	CAVIN1	Hepatomegaly	HP:0002240
284119	CAVIN1	Prolonged QTc interval	HP:0005184
284119	CAVIN1	Arterial stenosis	HP:0100545
284119	CAVIN1	Pancreatitis	HP:0001733
284119	CAVIN1	Recurrent fractures	HP:0002757
284119	CAVIN1	Ventriculomegaly	HP:0002119
284119	CAVIN1	Hyperinsulinemia	HP:0000842
284119	CAVIN1	Growth hormone excess	HP:0000845
284119	CAVIN1	Hyperhidrosis	HP:0000975
284119	CAVIN1	Splenomegaly	HP:0001744
284119	CAVIN1	Prominent supraorbital ridges	HP:0000336
284119	CAVIN1	Renal insufficiency	HP:0000083
284119	CAVIN1	Glomerulopathy	HP:0100820
284119	CAVIN1	Atlantoaxial dislocation	HP:0003414
284119	CAVIN1	Insulin resistance	HP:0000855
284119	CAVIN1	Scoliosis	HP:0002650
284119	CAVIN1	Exercise intolerance	HP:0003546
284119	CAVIN1	Flexion contracture	HP:0001371
284119	CAVIN1	Elevated hepatic transaminase	HP:0002910
284119	CAVIN1	Dysphagia	HP:0002015
284119	CAVIN1	Muscle stiffness	HP:0003552
284119	CAVIN1	Intellectual disability	HP:0001249
284119	CAVIN1	Constipation	HP:0002019
284119	CAVIN1	Lipoatrophy	HP:0100578
284119	CAVIN1	Congestive heart failure	HP:0001635
284119	CAVIN1	Failure to thrive	HP:0001508
284119	CAVIN1	Pyloric stenosis	HP:0002021
284119	CAVIN1	Secondary amenorrhea	HP:0000869
284119	CAVIN1	Peripheral neuropathy	HP:0009830
284119	CAVIN1	Hypertrophic cardiomyopathy	HP:0001639
284119	CAVIN1	Muscular dystrophy	HP:0003560
284119	CAVIN1	Abnormality of skin pigmentation	HP:0001000
284119	CAVIN1	Broad foot	HP:0001769
284119	CAVIN1	Spinal rigidity	HP:0003306
284119	CAVIN1	Hyperlordosis	HP:0003307
284119	CAVIN1	Hypertriglyceridemia	HP:0002155
284119	CAVIN1	Oligomenorrhea	HP:0000876
284119	CAVIN1	Hirsutism	HP:0001007
284119	CAVIN1	Nephropathy	HP:0000112
284119	CAVIN1	Accelerated skeletal maturation	HP:0005616
284119	CAVIN1	Tachycardia	HP:0001649
284119	CAVIN1	Progressive proximal muscle weakness	HP:0009073
284119	CAVIN1	Cirrhosis	HP:0001394
284119	CAVIN1	Hepatic steatosis	HP:0001397
284119	CAVIN1	Proximal muscle weakness	HP:0003701
284119	CAVIN1	Atrial fibrillation	HP:0005110
284119	CAVIN1	Hepatic failure	HP:0001399
284119	CAVIN1	Prolonged QT interval	HP:0001657
284119	CAVIN1	Myocardial infarction	HP:0001658
284119	CAVIN1	Generalized muscle weakness	HP:0003324
284119	CAVIN1	Myalgia	HP:0003326
284119	CAVIN1	Bradycardia	HP:0001662
284119	CAVIN1	Myopathy	HP:0003198
284119	CAVIN1	Dysmenorrhea	HP:0100607
5587	PRKD1	Depressed nasal bridge	HP:0005280
5587	PRKD1	Feeding difficulties	HP:0011968
5587	PRKD1	Sparse scalp hair	HP:0002209
5587	PRKD1	Thin skin	HP:0000963
5587	PRKD1	Autosomal dominant inheritance	HP:0000006
5587	PRKD1	Syndactyly	HP:0001159
5587	PRKD1	Broad thumb	HP:0011304
5587	PRKD1	Generalized hypotonia	HP:0001290
5587	PRKD1	Prominent nasal bridge	HP:0000426
5587	PRKD1	Delayed speech and language development	HP:0000750
5587	PRKD1	Widely spaced teeth	HP:0000687
5587	PRKD1	Global developmental delay	HP:0001263
5587	PRKD1	Fragile nails	HP:0001808
5587	PRKD1	Premature loss of primary teeth	HP:0006323
5587	PRKD1	Microdontia	HP:0000691
5587	PRKD1	Prominent forehead	HP:0011220
5587	PRKD1	Scoliosis	HP:0002650
5587	PRKD1	Microcephaly	HP:0000252
5587	PRKD1	Dry skin	HP:0000958
5587	PRKD1	Nystagmus	HP:0000639
5589	PRKCSH	Hepatomegaly	HP:0002240
5589	PRKCSH	Abnormality of the nervous system	HP:0000707
5589	PRKCSH	Gastroesophageal reflux	HP:0002020
5589	PRKCSH	Abnormality of the pancreas	HP:0001732
5589	PRKCSH	Ascites	HP:0001541
5589	PRKCSH	Autosomal dominant inheritance	HP:0000006
5589	PRKCSH	Abdominal distention	HP:0003270
5589	PRKCSH	Feeding difficulties in infancy	HP:0008872
5589	PRKCSH	Renal cyst	HP:0000107
5589	PRKCSH	Abdominal pain	HP:0002027
5589	PRKCSH	Respiratory insufficiency	HP:0002093
5589	PRKCSH	Elevated alkaline phosphatase	HP:0003155
5589	PRKCSH	Increased total bilirubin	HP:0003573
5589	PRKCSH	Dilatation	HP:0002617
5589	PRKCSH	Back pain	HP:0003418
5589	PRKCSH	Abnormality of the cardiovascular system	HP:0001626
5589	PRKCSH	Multiple renal cysts	HP:0005562
5589	PRKCSH	Adult onset	HP:0003581
5589	PRKCSH	Polycystic liver disease	HP:0006557
5589	PRKCSH	Gastrointestinal hemorrhage	HP:0002239
5591	PRKDC	Autosomal recessive inheritance	HP:0000007
5591	PRKDC	Infantile onset	HP:0003593
5591	PRKDC	Short chin	HP:0000331
5591	PRKDC	Severe combined immunodeficiency	HP:0004430
5591	PRKDC	Prominent forehead	HP:0011220
5591	PRKDC	Pachygyria	HP:0001302
5591	PRKDC	Sensorineural hearing impairment	HP:0000407
5591	PRKDC	Long philtrum	HP:0000343
5591	PRKDC	Simplified gyral pattern	HP:0009879
5591	PRKDC	Thin upper lip vermilion	HP:0000219
5591	PRKDC	Brain atrophy	HP:0012444
5591	PRKDC	Hypoplasia of the corpus callosum	HP:0002079
5591	PRKDC	Recurrent lower respiratory tract infections	HP:0002783
5591	PRKDC	Seizures	HP:0001250
5591	PRKDC	Recurrent aphthous stomatitis	HP:0011107
5591	PRKDC	CNS hypomyelination	HP:0003429
5591	PRKDC	Intrauterine growth retardation	HP:0001511
5591	PRKDC	Cerebellar vermis hypoplasia	HP:0001320
5591	PRKDC	Deeply set eye	HP:0000490
5591	PRKDC	Wide nasal bridge	HP:0000431
5591	PRKDC	Low-set ears	HP:0000369
5591	PRKDC	Micropenis	HP:0000054
5591	PRKDC	Visual impairment	HP:0000505
5591	PRKDC	Microcephaly	HP:0000252
5591	PRKDC	Overlapping fingers	HP:0010557
5592	PRKG1	Carotid artery dilatation	HP:0012163
5592	PRKG1	Ascending aortic dissection	HP:0004933
5592	PRKG1	Cutis marmorata	HP:0000965
5592	PRKG1	Autosomal dominant inheritance	HP:0000006
5592	PRKG1	Chest pain	HP:0100749
5592	PRKG1	Coronary artery atherosclerosis	HP:0001677
5592	PRKG1	Abnormality iris morphology	HP:0000525
5592	PRKG1	Arachnodactyly	HP:0001166
5592	PRKG1	Dilatation of the cerebral artery	HP:0004944
5592	PRKG1	High, narrow palate	HP:0002705
5592	PRKG1	Mucoid extracellular matrix accumulation	HP:0200146
5592	PRKG1	Bruising susceptibility	HP:0000978
5592	PRKG1	Descending aortic dissection	HP:0012499
5592	PRKG1	Peripheral arterial stenosis	HP:0004950
5592	PRKG1	Transient ischemic attack	HP:0002326
5592	PRKG1	Retrognathia	HP:0000278
5592	PRKG1	Inguinal hernia	HP:0000023
5592	PRKG1	Aortic dissection	HP:0002647
5592	PRKG1	Subarachnoid hemorrhage	HP:0002138
5592	PRKG1	Scoliosis	HP:0002650
5592	PRKG1	Paroxysmal dyspnea	HP:0012763
5592	PRKG1	Ischemic stroke	HP:0002140
5592	PRKG1	Descending thoracic aorta aneurysm	HP:0004959
5592	PRKG1	Hypovolemia	HP:0011106
5592	PRKG1	Tall stature	HP:0000098
5592	PRKG1	Coronary artery aneurysm	HP:0030882
5592	PRKG1	Pes planus	HP:0001763
5592	PRKG1	Dural ectasia	HP:0100775
5592	PRKG1	Cardiomegaly	HP:0001640
5592	PRKG1	Left ventricular dysfunction	HP:0005162
5592	PRKG1	Patent ductus arteriosus	HP:0001643
5592	PRKG1	Coronary artery dissection	HP:0006702
5592	PRKG1	Bicuspid aortic valve	HP:0001647
5592	PRKG1	Hypertension	HP:0000822
5592	PRKG1	Thoracic aortic aneurysm	HP:0012727
5592	PRKG1	Aortic root aneurysm	HP:0002616
5592	PRKG1	Abdominal aortic aneurysm	HP:0005112
5592	PRKG1	Hemoptysis	HP:0002105
5592	PRKG1	Pneumothorax	HP:0002107
5592	PRKG1	Exertional dyspnea	HP:0002875
5592	PRKG1	Aortic regurgitation	HP:0001659
5592	PRKG1	Hypertelorism	HP:0000316
5592	PRKG1	Prenatal maternal abnormality	HP:0002686
5592	PRKG1	Abnormality of the sternum	HP:0000766
5594	MAPK1	Recurrent urinary tract infections	HP:0000010
5594	MAPK1	Absent toenail	HP:0001802
5594	MAPK1	Camptodactyly of finger	HP:0100490
5594	MAPK1	Arachnodactyly	HP:0001166
5594	MAPK1	Malar flattening	HP:0000272
5594	MAPK1	Oculomotor apraxia	HP:0000657
5594	MAPK1	High, narrow palate	HP:0002705
5594	MAPK1	Long face	HP:0000276
5594	MAPK1	Inguinal hernia	HP:0000023
5594	MAPK1	Sensorineural hearing impairment	HP:0000407
5594	MAPK1	Absent fingernail	HP:0001817
5594	MAPK1	Short distal phalanx of finger	HP:0009882
5594	MAPK1	Recurrent respiratory infections	HP:0002205
5594	MAPK1	Language impairment	HP:0002463
5594	MAPK1	Narrow mouth	HP:0000160
5594	MAPK1	Immunodeficiency	HP:0002721
5594	MAPK1	Prominent nasal bridge	HP:0000426
5594	MAPK1	Underdeveloped nasal alae	HP:0000430
5594	MAPK1	Cleft palate	HP:0000175
5594	MAPK1	Bowel incontinence	HP:0002607
5594	MAPK1	Pointed chin	HP:0000307
5594	MAPK1	Short palm	HP:0004279
5594	MAPK1	Ankyloglossia	HP:0010296
5594	MAPK1	Sandal gap	HP:0001852
5594	MAPK1	Joint hyperflexibility	HP:0005692
5594	MAPK1	Smooth philtrum	HP:0000319
5594	MAPK1	Tics	HP:0100033
5594	MAPK1	Branchial fistula	HP:0009795
5594	MAPK1	Facial asymmetry	HP:0000324
5594	MAPK1	Blepharophimosis	HP:0000581
5594	MAPK1	Choanal atresia	HP:0000453
5594	MAPK1	Depressivity	HP:0000716
5594	MAPK1	Aortic aneurysm	HP:0004942
5594	MAPK1	Obsessive-compulsive behavior	HP:0000722
5594	MAPK1	Premature birth	HP:0001622
5594	MAPK1	Bowing of the long bones	HP:0006487
5594	MAPK1	Thin upper lip vermilion	HP:0000219
5594	MAPK1	Ventricular septal defect	HP:0001629
5594	MAPK1	Atrial septal defect	HP:0001631
5594	MAPK1	Intellectual disability	HP:0001249
5594	MAPK1	Seizures	HP:0001250
5594	MAPK1	Short stature	HP:0004322
5594	MAPK1	Pes planus	HP:0001763
5594	MAPK1	Pyloric stenosis	HP:0002021
5594	MAPK1	Intrauterine growth retardation	HP:0001511
5594	MAPK1	Neoplasm	HP:0002664
5594	MAPK1	Deeply set eye	HP:0000490
5594	MAPK1	Attention deficit hyperactivity disorder	HP:0007018
5594	MAPK1	Toe syndactyly	HP:0001770
5594	MAPK1	Hyperlordosis	HP:0003307
5594	MAPK1	Abnormality of earlobe	HP:0000363
5594	MAPK1	Global developmental delay	HP:0001263
5594	MAPK1	Clinodactyly of the 5th finger	HP:0004209
5594	MAPK1	Coxa valga	HP:0002673
5594	MAPK1	Highly arched eyebrow	HP:0002553
5594	MAPK1	Ulnar deviation of finger	HP:0009465
5594	MAPK1	Aortic regurgitation	HP:0001659
5594	MAPK1	Microcephaly	HP:0000252
5594	MAPK1	Truncus arteriosus	HP:0001660
5602	MAPK10	Intellectual disability	HP:0001249
5602	MAPK10	Generalized tonic seizures	HP:0010818
5602	MAPK10	Atonic seizures	HP:0010819
5602	MAPK10	Atypical absence seizure	HP:0007270
5602	MAPK10	Personality disorder	HP:0012075
5602	MAPK10	Generalized myoclonic seizures	HP:0002123
5602	MAPK10	Aggressive behavior	HP:0000718
5602	MAPK10	Hyperactivity	HP:0000752
5602	MAPK10	Encephalopathy	HP:0001298
5602	MAPK10	Mental deterioration	HP:0001268
5602	MAPK10	Generalized tonic-clonic seizures	HP:0002069
5602	MAPK10	Myoclonus	HP:0001336
5602	MAPK10	Autistic behavior	HP:0000729
5602	MAPK10	Abnormality of brainstem morphology	HP:0002363
5602	MAPK10	EEG with focal sharp slow waves	HP:0011195
5602	MAPK10	Focal-onset seizure	HP:0007359
5602	MAPK10	Falls	HP:0002527
54756	IL17RD	Ichthyosis	HP:0008064
54756	IL17RD	Gynecomastia	HP:0000771
54756	IL17RD	Autosomal dominant inheritance	HP:0000006
54756	IL17RD	Autosomal recessive inheritance	HP:0000007
54756	IL17RD	Hypogonadism	HP:0000135
54756	IL17RD	Gait disturbance	HP:0001288
54756	IL17RD	Decreased fertility	HP:0000144
54756	IL17RD	Primary amenorrhea	HP:0000786
54756	IL17RD	Infertility	HP:0000789
54756	IL17RD	Sensorineural hearing impairment	HP:0000407
54756	IL17RD	Cryptorchidism	HP:0000028
54756	IL17RD	Decreased testicular size	HP:0008734
54756	IL17RD	Erectile abnormalities	HP:0100639
54756	IL17RD	Abnormality of the dentition	HP:0000164
54756	IL17RD	Sparse axillary hair	HP:0002215
54756	IL17RD	Color vision defect	HP:0000551
54756	IL17RD	Osteopenia	HP:0000938
54756	IL17RD	Osteoporosis	HP:0000939
54756	IL17RD	Hypogonadotrophic hypogonadism	HP:0000044
54756	IL17RD	Muscle weakness	HP:0001324
54756	IL17RD	Cleft palate	HP:0000175
54756	IL17RD	Sparse pubic hair	HP:0002225
54756	IL17RD	Micropenis	HP:0000054
54756	IL17RD	Paraplegia	HP:0010550
54756	IL17RD	Delayed puberty	HP:0000823
54756	IL17RD	Bimanual synkinesia	HP:0001335
54756	IL17RD	Tremor	HP:0001337
54756	IL17RD	Hyposmia	HP:0004409
54756	IL17RD	Delayed skeletal maturation	HP:0002750
54756	IL17RD	Anterior hypopituitarism	HP:0000830
54756	IL17RD	Dyspareunia	HP:0030016
54756	IL17RD	Recurrent fractures	HP:0002757
54756	IL17RD	Abnormality of the voice	HP:0001608
54756	IL17RD	Anosmia	HP:0000458
54756	IL17RD	Reduced number of teeth	HP:0009804
54756	IL17RD	Abnormality of cardiovascular system morphology	HP:0030680
54756	IL17RD	Skeletal dysplasia	HP:0002652
54756	IL17RD	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
54756	IL17RD	Pes cavus	HP:0001761
54756	IL17RD	Seizures	HP:0001250
54756	IL17RD	Ataxia	HP:0001251
54756	IL17RD	Pes planus	HP:0001763
54756	IL17RD	Muscular hypotonia	HP:0001252
54756	IL17RD	Renal agenesis	HP:0000104
54756	IL17RD	Obesity	HP:0001513
54756	IL17RD	Dysarthria	HP:0001260
54756	IL17RD	Hearing impairment	HP:0000365
54756	IL17RD	Breast hypoplasia	HP:0003187
54756	IL17RD	Visual impairment	HP:0000505
54756	IL17RD	Ptosis	HP:0000508
54756	IL17RD	Reduced bone mineral density	HP:0004349
54756	IL17RD	Nystagmus	HP:0000639
5604	MAP2K1	Macrocephaly	HP:0000256
5604	MAP2K1	Autosomal dominant inheritance	HP:0000006
5604	MAP2K1	Generalized hyperpigmentation	HP:0007440
5604	MAP2K1	Long face	HP:0000276
5604	MAP2K1	Coarse facial features	HP:0000280
5604	MAP2K1	Cavernous hemangioma	HP:0001048
5604	MAP2K1	Cryptorchidism	HP:0000028
5604	MAP2K1	Epicanthus	HP:0000286
5604	MAP2K1	Myopia	HP:0000545
5604	MAP2K1	Full cheeks	HP:0000293
5604	MAP2K1	Genu valgum	HP:0002857
5604	MAP2K1	Redundant skin	HP:0001582
5604	MAP2K1	Deep palmar crease	HP:0006191
5604	MAP2K1	EEG abnormality	HP:0002353
5604	MAP2K1	Hypertelorism	HP:0000316
5604	MAP2K1	Triangular face	HP:0000325
5604	MAP2K1	Biparietal narrowing	HP:0004422
5604	MAP2K1	Cerebral cortical atrophy	HP:0002120
5604	MAP2K1	Premature birth	HP:0001622
5604	MAP2K1	Long philtrum	HP:0000343
5604	MAP2K1	Neurofibrosarcoma	HP:0100697
5604	MAP2K1	Scoliosis	HP:0002650
5604	MAP2K1	Micrognathia	HP:0000347
5604	MAP2K1	High forehead	HP:0000348
5604	MAP2K1	Ventricular septal defect	HP:0001629
5604	MAP2K1	Atrial septal defect	HP:0001631
5604	MAP2K1	Abnormal bleeding	HP:0001892
5604	MAP2K1	Hypertrophic cardiomyopathy	HP:0001639
5604	MAP2K1	Neoplasm	HP:0002664
5604	MAP2K1	Pulmonic stenosis	HP:0001642
5604	MAP2K1	Patent ductus arteriosus	HP:0001643
5604	MAP2K1	Low-set, posteriorly rotated ears	HP:0000368
5604	MAP2K1	Low posterior hairline	HP:0002162
5604	MAP2K1	Abnormality of the palpebral fissures	HP:0008050
5604	MAP2K1	Abnormal heart valve morphology	HP:0001654
5604	MAP2K1	Short nose	HP:0003196
5604	MAP2K1	Long palpebral fissure	HP:0000637
5604	MAP2K1	Hydronephrosis	HP:0000126
5604	MAP2K1	Nystagmus	HP:0000639
5604	MAP2K1	Ichthyosis	HP:0008064
5604	MAP2K1	Brachydactyly	HP:0001156
5604	MAP2K1	Clinodactyly	HP:0030084
5604	MAP2K1	Sparse hair	HP:0008070
5604	MAP2K1	Thickened helices	HP:0000391
5604	MAP2K1	Hypogonadism	HP:0000135
5604	MAP2K1	Optic atrophy	HP:0000648
5604	MAP2K1	Multiple cafe-au-lait spots	HP:0007565
5604	MAP2K1	Macrotia	HP:0000400
5604	MAP2K1	Coarctation of aorta	HP:0001680
5604	MAP2K1	High, narrow palate	HP:0002705
5604	MAP2K1	Heterogeneous	HP:0001425
5604	MAP2K1	Shield chest	HP:0000914
5604	MAP2K1	Pectus excavatum of inferior sternum	HP:0000915
5604	MAP2K1	Superior pectus carinatum	HP:0000917
5604	MAP2K1	Cubitus valgus	HP:0002967
5604	MAP2K1	Sensorineural hearing impairment	HP:0000407
5604	MAP2K1	Wide mouth	HP:0000154
5604	MAP2K1	Abnormality of the vertebral column	HP:0000925
5604	MAP2K1	Depressed nasal bridge	HP:0005280
5604	MAP2K1	Synovitis	HP:0100769
5604	MAP2K1	Underdeveloped supraorbital ridges	HP:0009891
5604	MAP2K1	Curly hair	HP:0002212
5604	MAP2K1	Fine hair	HP:0002213
5604	MAP2K1	Sparse or absent eyelashes	HP:0200102
5604	MAP2K1	Reduced factor XIII activity	HP:0008357
5604	MAP2K1	Feeding difficulties in infancy	HP:0008872
5604	MAP2K1	Slow-growing hair	HP:0002217
5604	MAP2K1	Hypoplasia of the zygomatic bone	HP:0010669
5604	MAP2K1	Functional abnormality of the gastrointestinal tract	HP:0012719
5604	MAP2K1	Submucous cleft hard palate	HP:0000176
5604	MAP2K1	Dental malocclusion	HP:0000689
5604	MAP2K1	Male infertility	HP:0003251
5604	MAP2K1	Abnormality of the ulna	HP:0002997
5604	MAP2K1	Dry skin	HP:0000958
5604	MAP2K1	Kyphoscoliosis	HP:0002751
5604	MAP2K1	Postnatal growth retardation	HP:0008897
5604	MAP2K1	Dystrophic fingernails	HP:0008391
5604	MAP2K1	Hyperextensible skin	HP:0000974
5604	MAP2K1	Anteverted nares	HP:0000463
5604	MAP2K1	Hyperhidrosis	HP:0000975
5604	MAP2K1	Webbed neck	HP:0000465
5604	MAP2K1	Short neck	HP:0000470
5604	MAP2K1	Palmoplantar keratoderma	HP:0000982
5604	MAP2K1	Frontal bossing	HP:0002007
5604	MAP2K1	High palate	HP:0000218
5604	MAP2K1	Cystic hygroma	HP:0000476
5604	MAP2K1	Excessive wrinkled skin	HP:0007392
5604	MAP2K1	Intellectual disability	HP:0001249
5604	MAP2K1	Short stature	HP:0004322
5604	MAP2K1	Seizures	HP:0001250
5604	MAP2K1	Muscular hypotonia	HP:0001252
5604	MAP2K1	Failure to thrive	HP:0001508
5604	MAP2K1	Strabismus	HP:0000486
5604	MAP2K1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
5604	MAP2K1	Reduced factor XII activity	HP:0004841
5604	MAP2K1	Multiple lentigines	HP:0001003
5604	MAP2K1	Dysarthria	HP:0001260
5604	MAP2K1	Lymphedema	HP:0001004
5604	MAP2K1	Downslanted palpebral fissures	HP:0000494
5604	MAP2K1	Hydrocephalus	HP:0000238
5604	MAP2K1	Global developmental delay	HP:0001263
5604	MAP2K1	Hyperkeratosis pilaris	HP:0040180
5604	MAP2K1	Abnormality of vision	HP:0000504
5604	MAP2K1	Radial deviation of finger	HP:0009466
5604	MAP2K1	Failure to thrive in infancy	HP:0001531
5604	MAP2K1	Brittle hair	HP:0002299
5604	MAP2K1	Amegakaryocytic thrombocytopenia	HP:0004859
5604	MAP2K1	Ptosis	HP:0000508
5604	MAP2K1	Reduced bone mineral density	HP:0004349
5604	MAP2K1	Heat intolerance	HP:0002046
5604	MAP2K1	Pectus excavatum	HP:0000767
5605	MAP2K2	Macrocephaly	HP:0000256
5605	MAP2K2	Ichthyosis	HP:0008064
5605	MAP2K2	Sparse hair	HP:0008070
5605	MAP2K2	Thickened helices	HP:0000391
5605	MAP2K2	Developmental cataract	HP:0000519
5605	MAP2K2	Optic atrophy	HP:0000648
5605	MAP2K2	Multiple cafe-au-lait spots	HP:0007565
5605	MAP2K2	Generalized hyperpigmentation	HP:0007440
5605	MAP2K2	Macrotia	HP:0000400
5605	MAP2K2	Long face	HP:0000276
5605	MAP2K2	Cubitus valgus	HP:0002967
5605	MAP2K2	Coarse facial features	HP:0000280
5605	MAP2K2	Cavernous hemangioma	HP:0001048
5605	MAP2K2	Abnormality of the lymphatic system	HP:0100763
5605	MAP2K2	Cryptorchidism	HP:0000028
5605	MAP2K2	Epicanthus	HP:0000286
5605	MAP2K2	Abnormality of the helix	HP:0011039
5605	MAP2K2	Hypoplasia of the corpus callosum	HP:0002079
5605	MAP2K2	Depressed nasal bridge	HP:0005280
5605	MAP2K2	Myopia	HP:0000545
5605	MAP2K2	Underdeveloped supraorbital ridges	HP:0009891
5605	MAP2K2	Fine hair	HP:0002213
5605	MAP2K2	Full cheeks	HP:0000293
5605	MAP2K2	Sparse or absent eyelashes	HP:0200102
5605	MAP2K2	Feeding difficulties in infancy	HP:0008872
5605	MAP2K2	Slow-growing hair	HP:0002217
5605	MAP2K2	Genu valgum	HP:0002857
5605	MAP2K2	Cerebellar hypoplasia	HP:0001321
5605	MAP2K2	Hypoplasia of the zygomatic bone	HP:0010669
5605	MAP2K2	Redundant skin	HP:0001582
5605	MAP2K2	Deep palmar crease	HP:0006191
5605	MAP2K2	Functional abnormality of the gastrointestinal tract	HP:0012719
5605	MAP2K2	Absent eyebrow	HP:0002223
5605	MAP2K2	Specific learning disability	HP:0001328
5605	MAP2K2	Submucous cleft hard palate	HP:0000176
5605	MAP2K2	EEG abnormality	HP:0002353
5605	MAP2K2	Abnormality of the ulna	HP:0002997
5605	MAP2K2	Hypertelorism	HP:0000316
5605	MAP2K2	Dry skin	HP:0000958
5605	MAP2K2	Abdominal wall muscle weakness	HP:0009023
5605	MAP2K2	Prolonged bleeding time	HP:0003010
5605	MAP2K2	Biparietal narrowing	HP:0004422
5605	MAP2K2	Abnormal ventricular septum morphology	HP:0010438
5605	MAP2K2	Dystrophic fingernails	HP:0008391
5605	MAP2K2	Cerebral cortical atrophy	HP:0002120
5605	MAP2K2	Hyperextensible skin	HP:0000974
5605	MAP2K2	Anteverted nares	HP:0000463
5605	MAP2K2	Hyperhidrosis	HP:0000975
5605	MAP2K2	Webbed neck	HP:0000465
5605	MAP2K2	Narrow forehead	HP:0000341
5605	MAP2K2	Premature birth	HP:0001622
5605	MAP2K2	Short neck	HP:0000470
5605	MAP2K2	Palmoplantar keratoderma	HP:0000982
5605	MAP2K2	Frontal bossing	HP:0002007
5605	MAP2K2	Long philtrum	HP:0000343
5605	MAP2K2	Scoliosis	HP:0002650
5605	MAP2K2	High palate	HP:0000218
5605	MAP2K2	High forehead	HP:0000348
5605	MAP2K2	Dysphagia	HP:0002015
5605	MAP2K2	Atrial septal defect	HP:0001631
5605	MAP2K2	Abnormality of lateral ventricle	HP:0030047
5605	MAP2K2	Excessive wrinkled skin	HP:0007392
5605	MAP2K2	Intellectual disability	HP:0001249
5605	MAP2K2	Optic nerve hypoplasia	HP:0000609
5605	MAP2K2	Short stature	HP:0004322
5605	MAP2K2	Muscular hypotonia	HP:0001252
5605	MAP2K2	Strabismus	HP:0000486
5605	MAP2K2	Hypertrophic cardiomyopathy	HP:0001639
5605	MAP2K2	Aplasia/Hypoplasia of the eyebrow	HP:0100840
5605	MAP2K2	Pulmonic stenosis	HP:0001642
5605	MAP2K2	Multiple lentigines	HP:0001003
5605	MAP2K2	Dysarthria	HP:0001260
5605	MAP2K2	Lymphedema	HP:0001004
5605	MAP2K2	Downslanted palpebral fissures	HP:0000494
5605	MAP2K2	Hydrocephalus	HP:0000238
5605	MAP2K2	Abnormal aortic valve morphology	HP:0001646
5605	MAP2K2	Global developmental delay	HP:0001263
5605	MAP2K2	Low-set, posteriorly rotated ears	HP:0000368
5605	MAP2K2	Low posterior hairline	HP:0002162
5605	MAP2K2	Abnormal heart valve morphology	HP:0001654
5605	MAP2K2	Abnormality of vision	HP:0000504
5605	MAP2K2	Telecanthus	HP:0000506
5605	MAP2K2	Failure to thrive in infancy	HP:0001531
5605	MAP2K2	Brittle hair	HP:0002299
5605	MAP2K2	Ptosis	HP:0000508
5605	MAP2K2	Short nose	HP:0003196
5605	MAP2K2	Abnormality of the thorax	HP:0000765
5605	MAP2K2	Long palpebral fissure	HP:0000637
5605	MAP2K2	Hydronephrosis	HP:0000126
5605	MAP2K2	Abnormality of the sternum	HP:0000766
5605	MAP2K2	Heat intolerance	HP:0002046
5605	MAP2K2	Nystagmus	HP:0000639
5605	MAP2K2	Pectus excavatum	HP:0000767
54757	FAM20A	Amelogenesis imperfecta	HP:0000705
54757	FAM20A	Increased circulating osteocalcin level	HP:0031428
54757	FAM20A	Enuresis	HP:0000805
54757	FAM20A	Autosomal recessive inheritance	HP:0000007
54757	FAM20A	Polyuria	HP:0000103
54757	FAM20A	Overgrowth	HP:0001548
54757	FAM20A	Delayed eruption of teeth	HP:0000684
54757	FAM20A	Hypophosphaturia	HP:0012365
54757	FAM20A	Yellow-brown discoloration of the teeth	HP:0006286
54757	FAM20A	Nephropathy	HP:0000112
54757	FAM20A	Renal insufficiency	HP:0000083
54757	FAM20A	Abnormal calcium-phosphate regulating hormone level	HP:0100530
54757	FAM20A	Gingival overgrowth	HP:0000212
54757	FAM20A	Impaired renal concentrating ability	HP:0004727
54757	FAM20A	Hypocalciuria	HP:0003127
54757	FAM20A	Delayed eruption of permanent teeth	HP:0000696
54757	FAM20A	Nephrocalcinosis	HP:0000121
54757	FAM20A	Dagger-shaped pulp calcifications	HP:0006302
5611	DNAJC3	Short stature	HP:0004322
5611	DNAJC3	Demyelinating peripheral neuropathy	HP:0007108
5611	DNAJC3	Areflexia	HP:0001284
5611	DNAJC3	Sensorimotor neuropathy	HP:0007141
5611	DNAJC3	Decreased body weight	HP:0004325
5611	DNAJC3	Atrophy/Degeneration affecting the brainstem	HP:0007366
5611	DNAJC3	Peripheral neuropathy	HP:0009830
5611	DNAJC3	Autosomal recessive inheritance	HP:0000007
5611	DNAJC3	Intellectual disability, mild	HP:0001256
5611	DNAJC3	Type I diabetes mellitus	HP:0100651
5611	DNAJC3	Cerebral atrophy	HP:0002059
5611	DNAJC3	Bilateral sensorineural hearing impairment	HP:0008619
5611	DNAJC3	Atrophy of the spinal cord	HP:0006827
5611	DNAJC3	Gait ataxia	HP:0002066
5611	DNAJC3	Diabetes mellitus	HP:0000819
5611	DNAJC3	Sensory ataxia	HP:0010871
5611	DNAJC3	Sensorineural hearing impairment	HP:0000407
5611	DNAJC3	Cerebellar atrophy	HP:0001272
5611	DNAJC3	Areflexia of lower limbs	HP:0002522
5611	DNAJC3	Cognitive impairment	HP:0100543
5611	DNAJC3	Babinski sign	HP:0003487
54765	TRIM44	Progressive visual loss	HP:0000529
54765	TRIM44	Peters anomaly	HP:0000659
54765	TRIM44	Glaucoma	HP:0000501
54765	TRIM44	Autosomal dominant inheritance	HP:0000006
54765	TRIM44	Cataract	HP:0000518
54765	TRIM44	Aplasia/Hypoplasia of the macula	HP:0008059
54765	TRIM44	Visual loss	HP:0000572
54765	TRIM44	Aniridia	HP:0000526
54765	TRIM44	Nystagmus	HP:0000639
54768	HYDIN	Rhinitis	HP:0012384
54768	HYDIN	Recurrent otitis media	HP:0000403
54768	HYDIN	Recurrent sinusitis	HP:0011108
54768	HYDIN	Recurrent bronchitis	HP:0002837
54768	HYDIN	Nasal polyposis	HP:0100582
54768	HYDIN	Autosomal recessive inheritance	HP:0000007
54768	HYDIN	Ciliary dyskinesia	HP:0012265
54768	HYDIN	Infantile onset	HP:0003593
54768	HYDIN	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
54768	HYDIN	Recurrent respiratory infections	HP:0002205
54768	HYDIN	Bronchiectasis	HP:0002110
5618	PRLR	Menorrhagia	HP:0000132
5618	PRLR	Agalactia	HP:0031109
5618	PRLR	Female hypogonadism	HP:0000134
5618	PRLR	Autosomal dominant inheritance	HP:0000006
5618	PRLR	Prolactin excess	HP:0000870
5618	PRLR	Autosomal recessive inheritance	HP:0000007
5618	PRLR	Osteopenia	HP:0000938
5618	PRLR	Osteoporosis	HP:0000939
5618	PRLR	Oligomenorrhea	HP:0000876
5618	PRLR	Amenorrhea	HP:0000141
5618	PRLR	Infertility	HP:0000789
5618	PRLR	Hemorrhagic ovarian cyst	HP:0012886
5618	PRLR	Fibroadenoma of the breast	HP:0010619
5618	PRLR	Galactorrhea	HP:0100829
5621	PRNP	Slow saccadic eye movements	HP:0000514
5621	PRNP	Areflexia	HP:0001284
5621	PRNP	Autosomal dominant inheritance	HP:0000006
5621	PRNP	Abnormal pupillary function	HP:0007686
5621	PRNP	Incoordination	HP:0002311
5621	PRNP	Clumsiness	HP:0002312
5621	PRNP	Confusion	HP:0001289
5621	PRNP	Simultanapraxia	HP:0040201
5621	PRNP	Generalized hypotonia	HP:0001290
5621	PRNP	Unsteady gait	HP:0002317
5621	PRNP	Focal T2 hyperintense basal ganglia lesion	HP:0007183
5621	PRNP	Perseveration	HP:0030223
5621	PRNP	Rigidity	HP:0002063
5621	PRNP	Urinary retention	HP:0000016
5621	PRNP	Gait ataxia	HP:0002066
5621	PRNP	Encephalopathy	HP:0001298
5621	PRNP	Bradykinesia	HP:0002067
5621	PRNP	Parkinsonism	HP:0001300
5621	PRNP	Limb ataxia	HP:0002070
5621	PRNP	Chorea	HP:0002072
5621	PRNP	Progressive cerebellar ataxia	HP:0002073
5621	PRNP	Truncal ataxia	HP:0002078
5621	PRNP	Dysmetria	HP:0001310
5621	PRNP	Diffuse spongiform leukoencephalopathy	HP:0006943
5621	PRNP	Weight loss	HP:0001824
5621	PRNP	Abnormal cerebellum morphology	HP:0001317
5621	PRNP	Mask-like facies	HP:0000298
5621	PRNP	Muscle weakness	HP:0001324
5621	PRNP	Abnormal autonomic nervous system physiology	HP:0012332
5621	PRNP	Vestibular nystagmus	HP:0010542
5621	PRNP	Specific learning disability	HP:0001328
5621	PRNP	EEG abnormality	HP:0002353
5621	PRNP	Jerky head movements	HP:0006961
5621	PRNP	Memory impairment	HP:0002354
5621	PRNP	Trigeminal neuralgia	HP:0100661
5621	PRNP	Frequent falls	HP:0002359
5621	PRNP	Myoclonus	HP:0001336
5621	PRNP	Apnea	HP:0002104
5621	PRNP	Sleep disturbance	HP:0002360
5621	PRNP	Tremor	HP:0001337
5621	PRNP	Poor visual behavior for age	HP:0025152
5621	PRNP	Hyperreflexia	HP:0001347
5621	PRNP	Jerky ocular pursuit movements	HP:0008003
5621	PRNP	Slurred speech	HP:0001350
5621	PRNP	Ventriculomegaly	HP:0002119
5621	PRNP	Hypokinesia	HP:0002375
5621	PRNP	Cerebral cortical atrophy	HP:0002120
5621	PRNP	Jaw pain	HP:0040264
5621	PRNP	Aphasia	HP:0002381
5621	PRNP	Abnormality of the basal ganglia	HP:0002134
5621	PRNP	Basal ganglia gliosis	HP:0006999
5621	PRNP	Spastic hemiparesis	HP:0011099
5621	PRNP	Impaired smooth pursuit	HP:0007772
5621	PRNP	Supranuclear gaze palsy	HP:0000605
5621	PRNP	Rapidly progressive	HP:0003678
5621	PRNP	EEG with persistent abnormal rhythmic activity	HP:0010846
5621	PRNP	Central nervous system degeneration	HP:0007009
5621	PRNP	Stroke-like episode	HP:0002401
5621	PRNP	Poor fine motor coordination	HP:0007010
5621	PRNP	Progressive forgetfulness	HP:0007017
5621	PRNP	Increased CSF protein	HP:0002922
5621	PRNP	Attention deficit hyperactivity disorder	HP:0007018
5621	PRNP	Gliosis	HP:0002171
5621	PRNP	Nystagmus	HP:0000639
5621	PRNP	Akinetic mutism	HP:0012672
5621	PRNP	Neurofibrillary tangles	HP:0002185
5621	PRNP	Apraxia	HP:0002186
5621	PRNP	Diplopia	HP:0000651
5621	PRNP	Astrocytosis	HP:0002446
5621	PRNP	Hyperactive deep tendon reflexes	HP:0006801
5621	PRNP	Fever	HP:0001945
5621	PRNP	Babinski sign	HP:0003487
5621	PRNP	Spastic dysarthria	HP:0002464
5621	PRNP	Senile plaques	HP:0100256
5621	PRNP	Extrapyramidal muscular rigidity	HP:0007076
5621	PRNP	Lower limb muscle weakness	HP:0007340
5621	PRNP	Insomnia	HP:0100785
5621	PRNP	Hypersomnia	HP:0100786
5621	PRNP	Abdominal symptom	HP:0011458
5621	PRNP	Amyloidosis of peripheral nerves	HP:0100292
5621	PRNP	Psychosis	HP:0000709
5621	PRNP	Childhood onset	HP:0011463
5621	PRNP	Restlessness	HP:0000711
5621	PRNP	Emotional lability	HP:0000712
5621	PRNP	Depressivity	HP:0000716
5621	PRNP	Aggressive behavior	HP:0000718
5621	PRNP	Loss of facial expression	HP:0005327
5621	PRNP	Hyperhidrosis	HP:0000975
5621	PRNP	Dementia	HP:0000726
5621	PRNP	Dysphagia	HP:0002015
5621	PRNP	Short attention span	HP:0000736
5621	PRNP	Irritability	HP:0000737
5621	PRNP	Neuronal loss in central nervous system	HP:0002529
5621	PRNP	Hallucinations	HP:0000738
5621	PRNP	Seizures	HP:0001250
5621	PRNP	Anxiety	HP:0000739
5621	PRNP	Ataxia	HP:0001251
5621	PRNP	Constipation	HP:0002019
5621	PRNP	Abnormality of the shoulder	HP:0003043
5621	PRNP	Apathy	HP:0000741
5621	PRNP	Abnormal posturing	HP:0002533
5621	PRNP	Spasticity	HP:0001257
5621	PRNP	Delusions	HP:0000746
5621	PRNP	Global brain atrophy	HP:0002283
5621	PRNP	Dysarthria	HP:0001260
5621	PRNP	Delayed speech and language development	HP:0000750
5621	PRNP	Personality changes	HP:0000751
5621	PRNP	Hemiparesis	HP:0001269
5621	PRNP	Deficit in phonologic short-term memory	HP:0002549
5621	PRNP	Progressive extrapyramidal muscular rigidity	HP:0007158
5621	PRNP	Cerebellar atrophy	HP:0001272
5621	PRNP	Visual impairment	HP:0000505
5621	PRNP	Adult onset	HP:0003581
5624	PROC	Deep venous thrombosis	HP:0002625
5624	PROC	Seizures	HP:0001250
5624	PROC	Thin skin	HP:0000963
5624	PROC	Abnormality of the nervous system	HP:0000707
5624	PROC	Autosomal dominant inheritance	HP:0000006
5624	PROC	Autosomal recessive inheritance	HP:0000007
5624	PROC	Reduced protein C activity	HP:0005543
5624	PROC	Abnormality of skin pigmentation	HP:0001000
5624	PROC	Venous thrombosis	HP:0004936
5624	PROC	Venous insufficiency	HP:0005293
5624	PROC	Superficial thrombophlebitis	HP:0002638
5624	PROC	Warfarin-induced skin necrosis	HP:0001038
5624	PROC	Global developmental delay	HP:0001263
5624	PROC	Abnormality of the cerebral vasculature	HP:0100659
5624	PROC	Purpura	HP:0000979
5624	PROC	Cerebral palsy	HP:0100021
5624	PROC	Variable expressivity	HP:0003828
5624	PROC	Hypercoagulability	HP:0100724
5624	PROC	Gangrene	HP:0100758
5624	PROC	Cerebral venous thrombosis	HP:0005305
5624	PROC	Pulmonary embolism	HP:0002204
5624	PROC	Vitreous hemorrhage	HP:0007902
5624	PROC	Abnormality of the eye	HP:0000478
5625	PRODH	Prolinuria	HP:0003137
5625	PRODH	Intellectual disability	HP:0001249
5625	PRODH	Seizures	HP:0001250
5625	PRODH	Ataxia	HP:0001251
5625	PRODH	Hyperglycinuria	HP:0003108
5625	PRODH	Muscular hypotonia	HP:0001252
5625	PRODH	Hyperprolinemia	HP:0008358
5625	PRODH	Autosomal recessive inheritance	HP:0000007
5625	PRODH	Hydroxyprolinuria	HP:0003080
5625	PRODH	Generalized hypotonia	HP:0001290
5625	PRODH	Delayed speech and language development	HP:0000750
5625	PRODH	Aggressive behavior	HP:0000718
5625	PRODH	Global developmental delay	HP:0001263
5625	PRODH	Nephropathy	HP:0000112
5625	PRODH	Schizophrenia	HP:0100753
5625	PRODH	Hyperactivity	HP:0000752
5625	PRODH	EEG abnormality	HP:0002353
5625	PRODH	Status epilepticus	HP:0002133
5625	PRODH	Autistic behavior	HP:0000729
5625	PRODH	Proteinuria	HP:0000093
5625	PRODH	Stereotypy	HP:0000733
5626	PROP1	Umbilical hernia	HP:0001537
5626	PROP1	Anterior pituitary agenesis	HP:0010626
5626	PROP1	Anterior pituitary hypoplasia	HP:0010627
5626	PROP1	Hypogonadism	HP:0000135
5626	PROP1	Autosomal recessive inheritance	HP:0000007
5626	PROP1	Prolactin deficiency	HP:0008202
5626	PROP1	Central hypothyroidism	HP:0011787
5626	PROP1	Amenorrhea	HP:0000141
5626	PROP1	Infertility	HP:0000789
5626	PROP1	Abnormal prolactin level	HP:0040086
5626	PROP1	Hypoglycemia	HP:0001943
5626	PROP1	Coarse facial features	HP:0000280
5626	PROP1	Decreased cervical spine mobility	HP:0004637
5626	PROP1	Decreased testicular size	HP:0008734
5626	PROP1	Abnormality of secondary sexual hair	HP:0009888
5626	PROP1	Osteopenia	HP:0000938
5626	PROP1	Hypogonadotrophic hypogonadism	HP:0000044
5626	PROP1	Pituitary hypothyroidism	HP:0008245
5626	PROP1	Median cleft lip and palate	HP:0008501
5626	PROP1	Hypothyroidism	HP:0000821
5626	PROP1	Delayed puberty	HP:0000823
5626	PROP1	Hypotension	HP:0002615
5626	PROP1	Sleep disturbance	HP:0002360
5626	PROP1	Jaundice	HP:0000952
5626	PROP1	Ectopic anterior pituitary gland	HP:0012731
5626	PROP1	Delayed skeletal maturation	HP:0002750
5626	PROP1	Feeding difficulties	HP:0011968
5626	PROP1	Abdominal distention	HP:0003270
5626	PROP1	Aplasia/Hypoplasia of the breasts	HP:0010311
5626	PROP1	Pituitary dwarfism	HP:0000839
5626	PROP1	Depressed nasal ridge	HP:0000457
5626	PROP1	Oral cleft	HP:0000202
5626	PROP1	Polydactyly	HP:0010442
5626	PROP1	Adrenal insufficiency	HP:0000846
5626	PROP1	Neonatal hypoglycemia	HP:0001998
5626	PROP1	Holoprosencephaly	HP:0001360
5626	PROP1	Severe global developmental delay	HP:0011344
5626	PROP1	Fatigue	HP:0012378
5626	PROP1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
5626	PROP1	Intellectual disability	HP:0001249
5626	PROP1	Short stature	HP:0004322
5626	PROP1	Seizures	HP:0001250
5626	PROP1	Constipation	HP:0002019
5626	PROP1	Muscular hypotonia	HP:0001252
5626	PROP1	Panhypopituitarism	HP:0000871
5626	PROP1	Decreased circulating ACTH level	HP:0002920
5626	PROP1	Septo-optic dysplasia	HP:0100842
5626	PROP1	Ectopic posterior pituitary	HP:0011755
5626	PROP1	Global developmental delay	HP:0001263
5626	PROP1	Large fontanelles	HP:0000239
5626	PROP1	Osteoporosis of vertebrae	HP:0005625
5626	PROP1	Agenesis of corpus callosum	HP:0001274
5626	PROP1	Absence of secondary sex characteristics	HP:0008187
5626	PROP1	Hypoglycemic seizures	HP:0002173
5627	PROS1	Deep venous thrombosis	HP:0002625
5627	PROS1	Thrombophlebitis	HP:0004418
5627	PROS1	Thin skin	HP:0000963
5627	PROS1	Arterial thrombosis	HP:0004420
5627	PROS1	Autosomal dominant inheritance	HP:0000006
5627	PROS1	Autosomal recessive inheritance	HP:0000007
5627	PROS1	Abnormality of skin pigmentation	HP:0001000
5627	PROS1	Retinopathy	HP:0000488
5627	PROS1	Skin ulcer	HP:0200042
5627	PROS1	Blindness	HP:0000618
5627	PROS1	Venous insufficiency	HP:0005293
5627	PROS1	Superficial thrombophlebitis	HP:0002638
5627	PROS1	Warfarin-induced skin necrosis	HP:0001038
5627	PROS1	Disseminated intravascular coagulation	HP:0005521
5627	PROS1	Abnormality of the cerebral vasculature	HP:0100659
5627	PROS1	Purpura	HP:0000979
5627	PROS1	Hypercoagulability	HP:0100724
5627	PROS1	Gangrene	HP:0100758
5627	PROS1	Reduced protein S activity	HP:0004855
5627	PROS1	Cerebral venous thrombosis	HP:0005305
5627	PROS1	Pulmonary embolism	HP:0002204
5627	PROS1	Cerebral hemorrhage	HP:0001342
5630	PRPH	Nausea and vomiting	HP:0002017
5630	PRPH	Skeletal muscle atrophy	HP:0003202
5630	PRPH	Muscle spasm	HP:0003394
5630	PRPH	Anxiety	HP:0000739
5630	PRPH	Neurodegeneration	HP:0002180
5630	PRPH	Emotional lability	HP:0000712
5630	PRPH	Spasticity	HP:0001257
5630	PRPH	Agitation	HP:0000713
5630	PRPH	Depressivity	HP:0000716
5630	PRPH	Paralysis	HP:0003470
5630	PRPH	Dyspnea	HP:0002094
5630	PRPH	Laryngospasm	HP:0025425
5630	PRPH	Fatigable weakness of swallowing muscles	HP:0030195
5630	PRPH	Pain	HP:0012531
5630	PRPH	Fatigable weakness of respiratory muscles	HP:0030196
5630	PRPH	Xerostomia	HP:0000217
5630	PRPH	Amyotrophic lateral sclerosis	HP:0007354
5630	PRPH	Fatigue	HP:0012378
5630	PRPH	Generalized muscle weakness	HP:0003324
5630	PRPH	Respiratory failure	HP:0002878
5631	PRPS1	Skeletal muscle hypertrophy	HP:0003712
5631	PRPS1	Drooling	HP:0002307
5631	PRPS1	Areflexia	HP:0001284
5631	PRPS1	Muscle mounding	HP:0003719
5631	PRPS1	Optic atrophy	HP:0000648
5631	PRPS1	Gait disturbance	HP:0001288
5631	PRPS1	Generalized hypotonia	HP:0001290
5631	PRPS1	X-linked recessive inheritance	HP:0001419
5631	PRPS1	Tetraplegia	HP:0002445
5631	PRPS1	Progressive visual loss	HP:0000529
5631	PRPS1	Sensorineural hearing impairment	HP:0000407
5631	PRPS1	Uric acid nephrolithiasis	HP:0000791
5631	PRPS1	Segmental peripheral demyelination/remyelination	HP:0003481
5631	PRPS1	Distal muscle weakness	HP:0002460
5631	PRPS1	Language impairment	HP:0002463
5631	PRPS1	Recurrent infections	HP:0002719
5631	PRPS1	Impaired pain sensation	HP:0007328
5631	PRPS1	Immunodeficiency	HP:0002721
5631	PRPS1	Neonatal hypotonia	HP:0001319
5631	PRPS1	Increased phosphoribosylpyrophosphate synthetase activity	HP:0003240
5631	PRPS1	Muscle weakness	HP:0001324
5631	PRPS1	Respiratory insufficiency	HP:0002093
5631	PRPS1	Onion bulb formation	HP:0003383
5631	PRPS1	Tremor	HP:0001337
5631	PRPS1	Visual loss	HP:0000572
5631	PRPS1	Absent speech	HP:0001344
5631	PRPS1	Abnormal nerve conduction velocity	HP:0040129
5631	PRPS1	Hyperreflexia	HP:0001347
5631	PRPS1	Childhood onset	HP:0011463
5631	PRPS1	Gout	HP:0001997
5631	PRPS1	Hyperuricosuria	HP:0003149
5631	PRPS1	Paraparesis	HP:0002385
5631	PRPS1	Renal insufficiency	HP:0000083
5631	PRPS1	Scoliosis	HP:0002650
5631	PRPS1	Areflexia of lower limbs	HP:0002522
5631	PRPS1	Dysphagia	HP:0002015
5631	PRPS1	Pes cavus	HP:0001761
5631	PRPS1	Intellectual disability	HP:0001249
5631	PRPS1	Seizures	HP:0001250
5631	PRPS1	Ataxia	HP:0001251
5631	PRPS1	Muscular hypotonia	HP:0001252
5631	PRPS1	Recurrent upper respiratory tract infections	HP:0002788
5631	PRPS1	Hyperuricemia	HP:0002149
5631	PRPS1	Peripheral neuropathy	HP:0009830
5631	PRPS1	Growth delay	HP:0001510
5631	PRPS1	Dysarthria	HP:0001260
5631	PRPS1	Hearing impairment	HP:0000365
5631	PRPS1	Distal amyotrophy	HP:0003693
5631	PRPS1	Excessive daytime somnolence	HP:0001262
5631	PRPS1	Global developmental delay	HP:0001263
5631	PRPS1	Death in infancy	HP:0001522
5631	PRPS1	Variable expressivity	HP:0003828
5631	PRPS1	Motor delay	HP:0001270
5631	PRPS1	Polyneuropathy	HP:0001271
5631	PRPS1	Spinal cord posterior columns myelin loss	HP:0008311
5631	PRPS1	Kyphosis	HP:0002808
5631	PRPS1	Distal sensory impairment	HP:0002936
5631	PRPS1	Visual impairment	HP:0000505
5631	PRPS1	Decreased nerve conduction velocity	HP:0000762
5631	PRPS1	Sensory neuropathy	HP:0000763
5631	PRPS1	Progressive muscle weakness	HP:0003323
5631	PRPS1	Pancreatic fibrosis	HP:0100732
5631	PRPS1	Rod-cone dystrophy	HP:0000510
5631	PRPS1	Nystagmus	HP:0000639
54790	TET2	Hepatomegaly	HP:0002240
54790	TET2	Portal hypertension	HP:0001409
54790	TET2	Intermittent claudication	HP:0004417
54790	TET2	Prolonged bleeding time	HP:0003010
54790	TET2	Arterial thrombosis	HP:0004420
54790	TET2	Myelofibrosis	HP:0011974
54790	TET2	Venous thrombosis	HP:0004936
54790	TET2	Increased megakaryocyte count	HP:0005513
54790	TET2	Paresthesia	HP:0003401
54790	TET2	Headache	HP:0002315
54790	TET2	Chest pain	HP:0100749
54790	TET2	Arthralgia	HP:0002829
54790	TET2	Budd-Chiari syndrome	HP:0002639
54790	TET2	Splenomegaly	HP:0001744
54790	TET2	Vertigo	HP:0002321
54790	TET2	Angina pectoris	HP:0001681
54790	TET2	Stroke	HP:0001297
54790	TET2	Bruising susceptibility	HP:0000978
54790	TET2	Somatic mutation	HP:0001428
54790	TET2	Transient ischemic attack	HP:0002326
54790	TET2	Fatigue	HP:0012378
54790	TET2	Pulmonary embolism	HP:0002204
54790	TET2	Pruritus	HP:0000989
54790	TET2	Weight loss	HP:0001824
54790	TET2	Amaurosis fugax	HP:0100576
54790	TET2	Gingival bleeding	HP:0000225
54790	TET2	Portal vein thrombosis	HP:0030242
54790	TET2	Abnormal platelet morphology	HP:0011875
54790	TET2	Epistaxis	HP:0000421
54790	TET2	Tinnitus	HP:0000360
54790	TET2	Abdominal pain	HP:0002027
54790	TET2	Respiratory insufficiency	HP:0002093
54790	TET2	Myelodysplasia	HP:0002863
54790	TET2	Hypertension	HP:0000822
54790	TET2	Acute leukemia	HP:0002488
54790	TET2	Myocardial infarction	HP:0001658
54790	TET2	Gastrointestinal hemorrhage	HP:0002239
407053	MIR96	Progressive hearing impairment	HP:0001730
407053	MIR96	Autosomal dominant inheritance	HP:0000006
407053	MIR96	Sensorineural hearing impairment	HP:0000407
407053	MIR96	Progressive sensorineural hearing impairment	HP:0000408
407053	MIR96	Tinnitus	HP:0000360
54795	TRPM4	Right bundle branch block	HP:0011712
54795	TRPM4	Autosomal dominant inheritance	HP:0000006
54795	TRPM4	Prolonged QT interval	HP:0001657
54795	TRPM4	Arrhythmia	HP:0011675
54795	TRPM4	Shortened PR interval	HP:0005165
54795	TRPM4	Atrioventricular block	HP:0001678
54795	TRPM4	Bradycardia	HP:0001662
54795	TRPM4	Syncope	HP:0001279
54795	TRPM4	Left anterior fascicular block	HP:0011711
5644	PRSS1	Hypoproteinemia	HP:0003075
5644	PRSS1	Failure to thrive	HP:0001508
5644	PRSS1	Pancreatitis	HP:0001733
5644	PRSS1	Autosomal dominant inheritance	HP:0000006
5644	PRSS1	Anal atresia	HP:0002023
5644	PRSS1	Autosomal recessive inheritance	HP:0000007
5644	PRSS1	Splanchnic vein thrombosis	HP:0030247
5644	PRSS1	Steatorrhea	HP:0002570
5644	PRSS1	Exocrine pancreatic insufficiency	HP:0001738
5644	PRSS1	Abdominal pain	HP:0002027
5644	PRSS1	Diabetes mellitus	HP:0000819
5644	PRSS1	Pancreatic pseudocyst	HP:0005206
5644	PRSS1	Leukocytosis	HP:0001974
5644	PRSS1	Jaundice	HP:0000952
5644	PRSS1	Fever	HP:0001945
5644	PRSS1	Abnormal thrombosis	HP:0001977
5644	PRSS1	Pleural effusion	HP:0002202
5644	PRSS1	Recurrent pancreatitis	HP:0100027
5644	PRSS1	Elevated C-reactive protein level	HP:0011227
5644	PRSS1	Abnormal enzyme/coenzyme activity	HP:0012379
5644	PRSS1	Pancreatic calcification	HP:0005213
5645	PRSS2	Diabetes mellitus	HP:0000819
5645	PRSS2	Leukocytosis	HP:0001974
5645	PRSS2	Splanchnic vein thrombosis	HP:0030247
5645	PRSS2	Jaundice	HP:0000952
5645	PRSS2	Recurrent pancreatitis	HP:0100027
5645	PRSS2	Elevated C-reactive protein level	HP:0011227
5645	PRSS2	Abdominal pain	HP:0002027
5645	PRSS2	Abnormal enzyme/coenzyme activity	HP:0012379
5645	PRSS2	Pancreatic calcification	HP:0005213
54800	KLHL24	Dystrophic toenail	HP:0001810
54800	KLHL24	Alopecia of scalp	HP:0002293
54800	KLHL24	Autosomal dominant inheritance	HP:0000006
54800	KLHL24	Sparse body hair	HP:0002231
54800	KLHL24	Diffuse palmoplantar keratoderma	HP:0007435
5648	MASP1	Umbilical hernia	HP:0001537
5648	MASP1	Omphalocele	HP:0001539
5648	MASP1	Wide anterior fontanel	HP:0000260
5648	MASP1	Diastasis recti	HP:0001540
5648	MASP1	Autosomal recessive inheritance	HP:0000007
5648	MASP1	Caudal appendage	HP:0002825
5648	MASP1	Hip dislocation	HP:0002827
5648	MASP1	Conjunctival telangiectasia	HP:0000524
5648	MASP1	Short 5th finger	HP:0009237
5648	MASP1	Conductive hearing impairment	HP:0000405
5648	MASP1	Epicanthus inversus	HP:0000537
5648	MASP1	Downturned corners of mouth	HP:0002714
5648	MASP1	Radioulnar synostosis	HP:0002974
5648	MASP1	Underdeveloped supraorbital ridges	HP:0009891
5648	MASP1	Dental crowding	HP:0000678
5648	MASP1	Cleft palate	HP:0000175
5648	MASP1	Hypertelorism	HP:0000316
5648	MASP1	Sacral dimple	HP:0000960
5648	MASP1	Postnatal growth retardation	HP:0008897
5648	MASP1	Blepharophimosis	HP:0000581
5648	MASP1	Single interphalangeal crease of fifth finger	HP:0006216
5648	MASP1	Oral cleft	HP:0000202
5648	MASP1	Cleft upper lip	HP:0000204
5648	MASP1	Prominent coccyx	HP:0040016
5648	MASP1	Abnormal anterior chamber morphology	HP:0000593
5648	MASP1	Craniosynostosis	HP:0001363
5648	MASP1	Coronal craniosynostosis	HP:0004440
5648	MASP1	Large fleshy ears	HP:0002265
5648	MASP1	Scoliosis	HP:0002650
5648	MASP1	Lambdoidal craniosynostosis	HP:0004443
5648	MASP1	Ventricular septal defect	HP:0001629
5648	MASP1	Atrial septal defect	HP:0001631
5648	MASP1	Intellectual disability	HP:0001249
5648	MASP1	Spina bifida occulta	HP:0003298
5648	MASP1	Growth delay	HP:0001510
5648	MASP1	Intellectual disability, mild	HP:0001256
5648	MASP1	Broad foot	HP:0001769
5648	MASP1	Patent ductus arteriosus	HP:0001643
5648	MASP1	Hyperlordosis	HP:0003307
5648	MASP1	Short foot	HP:0001773
5648	MASP1	Hearing impairment	HP:0000365
5648	MASP1	Downslanted palpebral fissures	HP:0000494
5648	MASP1	Abnormality of eye movement	HP:0000496
5648	MASP1	Clinodactyly of the 5th finger	HP:0004209
5648	MASP1	Low-set ears	HP:0000369
5648	MASP1	Abnormal nasal morphology	HP:0005105
5648	MASP1	Bilateral cryptorchidism	HP:0008689
5648	MASP1	Glaucoma	HP:0000501
5648	MASP1	Skull asymmetry	HP:0002678
5648	MASP1	Highly arched eyebrow	HP:0002553
5648	MASP1	Telecanthus	HP:0000506
5648	MASP1	Limited pronation/supination of forearm	HP:0006394
5648	MASP1	Ptosis	HP:0000508
5648	MASP1	Microcephaly	HP:0000252
5648	MASP1	Supernumerary nipple	HP:0002558
5648	MASP1	Hydronephrosis	HP:0000126
5649	RELN	4-layered lissencephaly	HP:0006818
5649	RELN	Muscular hypotonia	HP:0001252
5649	RELN	Autosomal dominant inheritance	HP:0000006
5649	RELN	Generalized tonic-clonic seizures with focal onset	HP:0007334
5649	RELN	Autosomal recessive inheritance	HP:0000007
5649	RELN	Cerebellar hypoplasia	HP:0001321
5649	RELN	Prominent nasal bridge	HP:0000426
5649	RELN	Lymphedema	HP:0001004
5649	RELN	Focal aware seizure	HP:0002349
5649	RELN	Hypoplasia of the pons	HP:0012110
5649	RELN	Global developmental delay	HP:0001263
5649	RELN	Focal impaired awareness seizure	HP:0002384
5649	RELN	Sloping forehead	HP:0000340
5649	RELN	Incomplete penetrance	HP:0003829
5649	RELN	Generalized-onset seizure	HP:0002197
5649	RELN	Focal sensory auditory seizure	HP:0011158
5649	RELN	Microcephaly	HP:0000252
54802	TRIT1	Absent speech	HP:0001344
54802	TRIT1	Myopia	HP:0000545
54802	TRIT1	Intellectual disability	HP:0001249
54802	TRIT1	Spasticity	HP:0001257
54802	TRIT1	Infantile onset	HP:0003593
54802	TRIT1	Generalized myoclonic seizures	HP:0002123
54802	TRIT1	Cerebral atrophy	HP:0002059
54802	TRIT1	Global developmental delay	HP:0001263
54802	TRIT1	EEG abnormality	HP:0002353
54802	TRIT1	Encephalopathy	HP:0001298
54802	TRIT1	Dystonia	HP:0001332
54802	TRIT1	Variable expressivity	HP:0003828
54802	TRIT1	Esotropia	HP:0000565
54802	TRIT1	Optic disc hypoplasia	HP:0007766
5651	TMPRSS15	Hypoproteinemia	HP:0003075
5651	TMPRSS15	Failure to thrive	HP:0001508
5651	TMPRSS15	Autosomal recessive inheritance	HP:0000007
5651	TMPRSS15	Hypoproteinemic edema	HP:0007609
5651	TMPRSS15	Diarrhea	HP:0002014
54805	CNNM2	Hypermagnesiuria	HP:0012608
54805	CNNM2	Absent speech	HP:0001344
54805	CNNM2	Poor speech	HP:0002465
54805	CNNM2	Intellectual disability	HP:0001249
54805	CNNM2	Seizures	HP:0001250
54805	CNNM2	Hypomagnesemia	HP:0002917
54805	CNNM2	Intellectual disability, moderate	HP:0002342
54805	CNNM2	Autosomal dominant inheritance	HP:0000006
54805	CNNM2	Ventriculomegaly	HP:0002119
54805	CNNM2	Autosomal recessive inheritance	HP:0000007
54805	CNNM2	Obesity	HP:0001513
54805	CNNM2	Headache	HP:0002315
54805	CNNM2	Muscle weakness	HP:0001324
54805	CNNM2	Moderate global developmental delay	HP:0011343
54805	CNNM2	Global developmental delay	HP:0001263
54805	CNNM2	Vertigo	HP:0002321
54805	CNNM2	Hyperactive deep tendon reflexes	HP:0006801
54805	CNNM2	Autistic behavior	HP:0000729
54805	CNNM2	Generalized muscle weakness	HP:0003324
54805	CNNM2	Microcephaly	HP:0000252
54805	CNNM2	Abnormal myelination	HP:0012447
5654	HTRA1	Arteriosclerosis of small cerebral arteries	HP:0004931
5654	HTRA1	Hyperreflexia	HP:0001347
5654	HTRA1	Recurrent subcortical infarcts	HP:0007236
5654	HTRA1	Autosomal dominant inheritance	HP:0000006
5654	HTRA1	Autosomal recessive inheritance	HP:0000007
5654	HTRA1	Gait disturbance	HP:0001288
5654	HTRA1	Headache	HP:0002315
5654	HTRA1	Rigidity	HP:0002063
5654	HTRA1	Progressive encephalopathy	HP:0002448
5654	HTRA1	Stroke	HP:0001297
5654	HTRA1	Urinary incontinence	HP:0000020
5654	HTRA1	Dementia	HP:0000726
5654	HTRA1	Transient ischemic attack	HP:0002326
5654	HTRA1	Abnormality of extrapyramidal motor function	HP:0002071
5654	HTRA1	Pseudobulbar signs	HP:0002200
5654	HTRA1	Low back pain	HP:0003419
5654	HTRA1	Babinski sign	HP:0003487
5654	HTRA1	Seizures	HP:0001250
5654	HTRA1	Ataxia	HP:0001251
5654	HTRA1	Diffuse white matter abnormalities	HP:0007204
5654	HTRA1	Perivascular spaces	HP:0012520
5654	HTRA1	Spasticity	HP:0001257
5654	HTRA1	Hyperintensity of cerebral white matter on MRI	HP:0030890
5654	HTRA1	Dysarthria	HP:0001260
5654	HTRA1	Leukoencephalopathy	HP:0002352
5654	HTRA1	Mental deterioration	HP:0001268
5654	HTRA1	Status cribrosum	HP:0025012
5654	HTRA1	Diffuse demyelination of the cerebral white matter	HP:0007162
5654	HTRA1	Alopecia	HP:0001596
5654	HTRA1	Nystagmus	HP:0000639
54806	AHI1	Abnormal electroretinogram	HP:0000512
54806	AHI1	Cataract	HP:0000518
54806	AHI1	Hypogonadism	HP:0000135
54806	AHI1	Autosomal recessive inheritance	HP:0000007
54806	AHI1	Gait disturbance	HP:0001288
54806	AHI1	Optic atrophy	HP:0000648
54806	AHI1	Hand polydactyly	HP:0001161
54806	AHI1	Generalized hypotonia	HP:0001290
54806	AHI1	Abnormal vertebral morphology	HP:0003468
54806	AHI1	Oculomotor apraxia	HP:0000657
54806	AHI1	Heterogeneous	HP:0001425
54806	AHI1	Long face	HP:0000276
54806	AHI1	Conductive hearing impairment	HP:0000405
54806	AHI1	Sensorineural hearing impairment	HP:0000407
54806	AHI1	Abnormality of retinal pigmentation	HP:0007703
54806	AHI1	Elongated superior cerebellar peduncle	HP:0011933
54806	AHI1	Epicanthus	HP:0000286
54806	AHI1	Hypoplasia of penis	HP:0008736
54806	AHI1	Situs inversus totalis	HP:0001696
54806	AHI1	Abnormal testis morphology	HP:0000035
54806	AHI1	Encephalocele	HP:0002084
54806	AHI1	Foot polydactyly	HP:0001829
54806	AHI1	Cerebellar vermis hypoplasia	HP:0001320
54806	AHI1	Feeding difficulties in infancy	HP:0008872
54806	AHI1	Prominent nasal bridge	HP:0000426
54806	AHI1	Retinal dystrophy	HP:0000556
54806	AHI1	Cleft palate	HP:0000175
54806	AHI1	Wide nasal bridge	HP:0000431
54806	AHI1	Keratoconus	HP:0000563
54806	AHI1	Central apnea	HP:0002871
54806	AHI1	Apnea	HP:0002104
54806	AHI1	Tremor	HP:0001337
54806	AHI1	Visual loss	HP:0000572
54806	AHI1	Episodic tachypnea	HP:0002876
54806	AHI1	Stage 5 chronic kidney disease	HP:0003774
54806	AHI1	Feeding difficulties	HP:0011968
54806	AHI1	Delayed ability to walk	HP:0031936
54806	AHI1	Open mouth	HP:0000194
54806	AHI1	Hyperreflexia	HP:0001347
54806	AHI1	Pigmentary retinopathy	HP:0000580
54806	AHI1	Biparietal narrowing	HP:0004422
54806	AHI1	Hyperinsulinemia	HP:0000842
54806	AHI1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
54806	AHI1	Oral cleft	HP:0000202
54806	AHI1	Aganglionic megacolon	HP:0002251
54806	AHI1	Polymicrogyria	HP:0002126
54806	AHI1	Anteverted nares	HP:0000463
54806	AHI1	Enlarged fossa interpeduncularis	HP:0100951
54806	AHI1	Scoliosis	HP:0002650
54806	AHI1	Ophthalmoplegia	HP:0000602
54806	AHI1	Type II diabetes mellitus	HP:0005978
54806	AHI1	Nephronophthisis	HP:0000090
54806	AHI1	Atypical scarring of skin	HP:0000987
54806	AHI1	Retinal coloboma	HP:0000480
54806	AHI1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
54806	AHI1	Intellectual disability	HP:0001249
54806	AHI1	Seizures	HP:0001250
54806	AHI1	Ataxia	HP:0001251
54806	AHI1	Muscular hypotonia	HP:0001252
54806	AHI1	Iris coloboma	HP:0000612
54806	AHI1	Photophobia	HP:0000613
54806	AHI1	Strabismus	HP:0000486
54806	AHI1	Neonatal breathing dysregulation	HP:0002790
54806	AHI1	Obesity	HP:0001513
54806	AHI1	Blindness	HP:0000618
54806	AHI1	Hydrocephalus	HP:0000238
54806	AHI1	Abnormal retinal vascular morphology	HP:0008046
54806	AHI1	Global developmental delay	HP:0001263
54806	AHI1	Low-set, posteriorly rotated ears	HP:0000368
54806	AHI1	Abnormal form of the vertebral bodies	HP:0003312
54806	AHI1	Low-set ears	HP:0000369
54806	AHI1	Molar tooth sign on MRI	HP:0002419
54806	AHI1	Dextrocardia	HP:0001651
54806	AHI1	Glaucoma	HP:0000501
54806	AHI1	Highly arched eyebrow	HP:0002553
54806	AHI1	Visual impairment	HP:0000505
54806	AHI1	Agenesis of corpus callosum	HP:0001274
54806	AHI1	Progressive night blindness	HP:0007675
54806	AHI1	Ptosis	HP:0000508
54806	AHI1	Nystagmus	HP:0000639
374291	NDUFS7	Hyperreflexia	HP:0001347
374291	NDUFS7	Pigmentary retinopathy	HP:0000580
374291	NDUFS7	Optic atrophy	HP:0000648
374291	NDUFS7	Emotional lability	HP:0000712
374291	NDUFS7	Developmental regression	HP:0002376
374291	NDUFS7	Decreased activity of mitochondrial respiratory chain	HP:0008972
374291	NDUFS7	Focal T2 hyperintense basal ganglia lesion	HP:0007183
374291	NDUFS7	Encephalopathy	HP:0001298
374291	NDUFS7	Abnormality of extrapyramidal motor function	HP:0002071
374291	NDUFS7	Abnormal pyramidal sign	HP:0007256
374291	NDUFS7	Progressive cerebellar ataxia	HP:0002073
374291	NDUFS7	Ophthalmoplegia	HP:0000602
374291	NDUFS7	Progressive	HP:0003676
374291	NDUFS7	Ventricular septal defect	HP:0001629
374291	NDUFS7	Seizures	HP:0001250
374291	NDUFS7	Ataxia	HP:0001251
374291	NDUFS7	Failure to thrive	HP:0001508
374291	NDUFS7	Muscular hypotonia	HP:0001252
374291	NDUFS7	Strabismus	HP:0000486
374291	NDUFS7	Hypertrichosis	HP:0000998
374291	NDUFS7	Peripheral neuropathy	HP:0009830
374291	NDUFS7	Lethargy	HP:0001254
374291	NDUFS7	Increased serum lactate	HP:0002151
374291	NDUFS7	Hypertrophic cardiomyopathy	HP:0001639
374291	NDUFS7	Progressive spastic paraplegia	HP:0007020
374291	NDUFS7	Dysarthria	HP:0001260
374291	NDUFS7	Hearing impairment	HP:0000365
374291	NDUFS7	Anemia	HP:0001903
374291	NDUFS7	Global developmental delay	HP:0001263
374291	NDUFS7	Leukodystrophy	HP:0002415
374291	NDUFS7	Intellectual disability, severe	HP:0010864
374291	NDUFS7	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
374291	NDUFS7	Dystonia	HP:0001332
374291	NDUFS7	Apnea	HP:0002104
374291	NDUFS7	Increased CSF lactate	HP:0002490
374291	NDUFS7	Abnormal mitochondria in muscle tissue	HP:0008316
374291	NDUFS7	Ptosis	HP:0000508
374291	NDUFS7	Nystagmus	HP:0000639
54808	DYM	Pectus carinatum	HP:0000768
54808	DYM	Multicentric femoral head ossification	HP:0008835
54808	DYM	Hypoplastic facial bones	HP:0002692
54808	DYM	Brachydactyly	HP:0001156
54808	DYM	Multicentric ossification of proximal humeral epiphyses	HP:0004997
54808	DYM	Autosomal recessive inheritance	HP:0000007
54808	DYM	Atlantoaxial instability	HP:0003467
54808	DYM	Hip dislocation	HP:0002827
54808	DYM	Dolichocephaly	HP:0000268
54808	DYM	Prominent calcaneus	HP:0012428
54808	DYM	Flat glenoid fossa	HP:0000911
54808	DYM	Barrel-shaped chest	HP:0001552
54808	DYM	Broad palm	HP:0001169
54808	DYM	Shield chest	HP:0000914
54808	DYM	Coarse facial features	HP:0000280
54808	DYM	Enlargement of the costochondral junction	HP:0000920
54808	DYM	Genu varum	HP:0002970
54808	DYM	Platyspondyly	HP:0000926
54808	DYM	Femoral bowing	HP:0002980
54808	DYM	Tibial bowing	HP:0002982
54808	DYM	Micromelia	HP:0002983
54808	DYM	Genu valgum	HP:0002857
54808	DYM	Abnormality of epiphysis morphology	HP:0005930
54808	DYM	Narrow greater sacrosciatic notches	HP:0003375
54808	DYM	Mandibular prognathia	HP:0000303
54808	DYM	Abnormality of the metaphysis	HP:0000944
54808	DYM	Hypoplastic iliac wing	HP:0002866
54808	DYM	Multicentric ossification of proximal femoral epiphyses	HP:0006450
54808	DYM	Abnormality of the ilium	HP:0002867
54808	DYM	Flaring of lower rib cage	HP:0006589
54808	DYM	Disproportionate short-trunk short stature	HP:0003521
54808	DYM	Short metacarpal	HP:0010049
54808	DYM	Postnatal growth retardation	HP:0008897
54808	DYM	Short thorax	HP:0010306
54808	DYM	Metaphyseal widening	HP:0003016
54808	DYM	Hypoplastic acetabulae	HP:0003274
54808	DYM	Short phalanx of finger	HP:0009803
54808	DYM	Abnormality of the wrist	HP:0003019
54808	DYM	Autism	HP:0000717
54808	DYM	Severe global developmental delay	HP:0011344
54808	DYM	Metaphyseal irregularity	HP:0003025
54808	DYM	Iliac crest serration	HP:0008786
54808	DYM	Waddling gait	HP:0002515
54808	DYM	Sloping forehead	HP:0000340
54808	DYM	Irregular epiphyses	HP:0010582
54808	DYM	Short neck	HP:0000470
54808	DYM	Beaking of vertebral bodies	HP:0004568
54808	DYM	Spinal canal stenosis	HP:0003416
54808	DYM	Scoliosis	HP:0002650
54808	DYM	Carpal bone hypoplasia	HP:0001498
54808	DYM	Skeletal dysplasia	HP:0002652
54808	DYM	Limitation of joint mobility	HP:0001376
54808	DYM	Camptodactyly	HP:0012385
54808	DYM	Intellectual disability	HP:0001249
54808	DYM	Talipes equinovarus	HP:0001762
54808	DYM	Pes planus	HP:0001763
54808	DYM	Broad foot	HP:0001769
54808	DYM	Attention deficit hyperactivity disorder	HP:0007018
54808	DYM	Joint stiffness	HP:0001387
54808	DYM	Hyperlordosis	HP:0003307
54808	DYM	Flat acetabular roof	HP:0003180
54808	DYM	Hypoplasia of the odontoid process	HP:0003311
54808	DYM	Wide pubic symphysis	HP:0003183
54808	DYM	Global developmental delay	HP:0001263
54808	DYM	Clinodactyly of the 5th finger	HP:0004209
54808	DYM	Hypoplastic scapulae	HP:0000882
54808	DYM	Prominent sternum	HP:0000884
54808	DYM	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
54808	DYM	Short metatarsal	HP:0010743
54808	DYM	Neurological speech impairment	HP:0002167
54808	DYM	Kyphosis	HP:0002808
54808	DYM	Deformed sella turcica	HP:0002681
54808	DYM	Lumbar hyperlordosis	HP:0002938
54808	DYM	Shoulder dislocation	HP:0003834
54808	DYM	Microcephaly	HP:0000252
54808	DYM	Thickened calvaria	HP:0002684
54808	DYM	Delayed femoral head ossification	HP:0008829
54808	DYM	Thoracic kyphosis	HP:0002942
54808	DYM	Rhizomelic arm shortening	HP:0004991
5657	PRTN3	Chronic otitis media	HP:0000389
5657	PRTN3	Recurrent intrapulmonary hemorrhage	HP:0006535
5657	PRTN3	Meningitis	HP:0001287
5657	PRTN3	Proptosis	HP:0000520
5657	PRTN3	Granulomatosis	HP:0002955
5657	PRTN3	Headache	HP:0002315
5657	PRTN3	Chest pain	HP:0100749
5657	PRTN3	Arthralgia	HP:0002829
5657	PRTN3	Autoimmunity	HP:0002960
5657	PRTN3	Angina pectoris	HP:0001681
5657	PRTN3	Hematuria	HP:0000790
5657	PRTN3	Sensorineural hearing impairment	HP:0000407
5657	PRTN3	Gangrene	HP:0100758
5657	PRTN3	Prostatitis	HP:0000024
5657	PRTN3	Fever	HP:0001945
5657	PRTN3	Arrhythmia	HP:0011675
5657	PRTN3	Recurrent respiratory infections	HP:0002205
5657	PRTN3	Pulmonary fibrosis	HP:0002206
5657	PRTN3	Weight loss	HP:0001824
5657	PRTN3	Abnormal oral cavity morphology	HP:0000163
5657	PRTN3	Pericarditis	HP:0001701
5657	PRTN3	Epistaxis	HP:0000421
5657	PRTN3	Cranial nerve paralysis	HP:0006824
5657	PRTN3	Restrictive ventilatory defect	HP:0002091
5657	PRTN3	Respiratory insufficiency	HP:0002093
5657	PRTN3	Inflammatory abnormality of the eye	HP:0100533
5657	PRTN3	Hypertension	HP:0000822
5657	PRTN3	Pleuritis	HP:0002102
5657	PRTN3	Hemoptysis	HP:0002105
5657	PRTN3	Periorbital edema	HP:0100539
5657	PRTN3	Gastrointestinal hemorrhage	HP:0002239
5657	PRTN3	Cough	HP:0012735
5657	PRTN3	Pulmonary infiltrates	HP:0002113
5657	PRTN3	Pancreatitis	HP:0001733
5657	PRTN3	Ureteral stenosis	HP:0000071
5657	PRTN3	Venous thrombosis	HP:0004936
5657	PRTN3	Vasculitis	HP:0002633
5657	PRTN3	Cerebral ischemia	HP:0002637
5657	PRTN3	Purpura	HP:0000979
5657	PRTN3	Renal insufficiency	HP:0000083
5657	PRTN3	Glomerulopathy	HP:0100820
5657	PRTN3	Fatigue	HP:0012378
5657	PRTN3	Elevated C-reactive protein level	HP:0011227
5657	PRTN3	Skin rash	HP:0000988
5657	PRTN3	Proteinuria	HP:0000093
5657	PRTN3	Intestinal obstruction	HP:0005214
5657	PRTN3	Abnormality of the hypothalamus-pituitary axis	HP:0000864
5657	PRTN3	Papule	HP:0200034
5657	PRTN3	Nausea and vomiting	HP:0002017
5657	PRTN3	Seizures	HP:0001250
5657	PRTN3	Retinopathy	HP:0000488
5657	PRTN3	Skin ulcer	HP:0200042
5657	PRTN3	Diabetes insipidus	HP:0000873
5657	PRTN3	Abdominal pain	HP:0002027
5657	PRTN3	Elevated erythrocyte sedimentation rate	HP:0003565
5657	PRTN3	Chronic obstructive pulmonary disease	HP:0006510
5657	PRTN3	Sinusitis	HP:0000246
5657	PRTN3	Visual impairment	HP:0000505
5657	PRTN3	Sensory neuropathy	HP:0000763
5657	PRTN3	Hemiplegia	HP:0002301
5657	PRTN3	Hydronephrosis	HP:0000126
5657	PRTN3	Myalgia	HP:0003326
54809	SAMD9	Autosomal dominant inheritance	HP:0000006
54809	SAMD9	Autosomal recessive inheritance	HP:0000007
54809	SAMD9	Sepsis	HP:0100806
54809	SAMD9	Petechiae	HP:0000967
54809	SAMD9	Recurrent urinary tract infections	HP:0000010
54809	SAMD9	Achalasia	HP:0002571
54809	SAMD9	Adrenal insufficiency	HP:0000846
54809	SAMD9	Thrombocytopenia	HP:0001873
54809	SAMD9	Hyponatremia	HP:0002902
54809	SAMD9	Hypoglycemia	HP:0001943
54809	SAMD9	Scoliosis	HP:0002650
54809	SAMD9	Leukopenia	HP:0001882
54809	SAMD9	Radial club hand	HP:0004059
54809	SAMD9	Cryptorchidism	HP:0000028
54809	SAMD9	Decreased testicular size	HP:0008734
54809	SAMD9	Recurrent bacterial infections	HP:0002718
54809	SAMD9	Lymphopenia	HP:0001888
54809	SAMD9	Short stature	HP:0004322
54809	SAMD9	Talipes equinovarus	HP:0001762
54809	SAMD9	Seizures	HP:0001250
54809	SAMD9	Gastroesophageal reflux	HP:0002020
54809	SAMD9	Decreased body weight	HP:0004325
54809	SAMD9	Gingivitis	HP:0000230
54809	SAMD9	Intrauterine growth retardation	HP:0001511
54809	SAMD9	Hyperkalemia	HP:0002153
54809	SAMD9	Patent ductus arteriosus	HP:0001643
54809	SAMD9	Chronic diarrhea	HP:0002028
54809	SAMD9	Hydrocephalus	HP:0000238
54809	SAMD9	Rocker bottom foot	HP:0001838
54809	SAMD9	Aspiration pneumonia	HP:0011951
54809	SAMD9	Myelodysplasia	HP:0002863
54809	SAMD9	Anemia	HP:0001903
54809	SAMD9	Hypospadias	HP:0000047
54809	SAMD9	Global developmental delay	HP:0001263
54809	SAMD9	Hypergonadotropic hypogonadism	HP:0000815
54809	SAMD9	Calcinosis	HP:0003761
54809	SAMD9	Shawl scrotum	HP:0000049
54809	SAMD9	Microphallus	HP:0030260
54809	SAMD9	Paraplegia	HP:0010550
54809	SAMD9	Motor delay	HP:0001270
54809	SAMD9	Abnormality of the skin	HP:0000951
54809	SAMD9	Intracranial hemorrhage	HP:0002170
54809	SAMD9	Esophageal stricture	HP:0002043
54809	SAMD9	Conjunctivitis	HP:0000509
54809	SAMD9	Overlapping fingers	HP:0010557
54809	SAMD9	Hypoplastic spleen	HP:0006270
5660	PSAP	Punctate periventricular T2 hyperintense foci	HP:0030081
5660	PSAP	Spastic tetraparesis	HP:0001285
5660	PSAP	Autosomal recessive inheritance	HP:0000007
5660	PSAP	Optic atrophy	HP:0000648
5660	PSAP	Clumsiness	HP:0002312
5660	PSAP	Infantile onset	HP:0003593
5660	PSAP	CNS demyelination	HP:0007305
5660	PSAP	Abnormality of visual evoked potentials	HP:0000649
5660	PSAP	Generalized hypotonia	HP:0001290
5660	PSAP	Schizophrenia	HP:0100753
5660	PSAP	Abnormal social behavior	HP:0012433
5660	PSAP	Gait ataxia	HP:0002066
5660	PSAP	Abnormality of metabolism/homeostasis	HP:0001939
5660	PSAP	Toe walking	HP:0040083
5660	PSAP	Urinary incontinence	HP:0000020
5660	PSAP	Generalized tonic-clonic seizures	HP:0002069
5660	PSAP	Chorea	HP:0002072
5660	PSAP	Hepatosplenomegaly	HP:0001433
5660	PSAP	Recurrent respiratory infections	HP:0002205
5660	PSAP	Hypoplasia of the corpus callosum	HP:0002079
5660	PSAP	Babinski sign	HP:0003487
5660	PSAP	Intention tremor	HP:0002080
5660	PSAP	Generalized clonic seizures	HP:0011169
5660	PSAP	Increased cerebral lipofuscin	HP:0011813
5660	PSAP	Feeding difficulties in infancy	HP:0008872
5660	PSAP	Osteopenia	HP:0000938
5660	PSAP	Bilateral sensorineural hearing impairment	HP:0008619
5660	PSAP	Muscle weakness	HP:0001324
5660	PSAP	Respiratory insufficiency	HP:0002093
5660	PSAP	Progressive spastic quadriplegia	HP:0002478
5660	PSAP	Bowel incontinence	HP:0002607
5660	PSAP	Memory impairment	HP:0002354
5660	PSAP	Difficulty walking	HP:0002355
5660	PSAP	Bulbar signs	HP:0002483
5660	PSAP	Dystonia	HP:0001332
5660	PSAP	Decerebrate rigidity	HP:0025013
5660	PSAP	Central apnea	HP:0002871
5660	PSAP	Hyperkinesis	HP:0002487
5660	PSAP	Frequent falls	HP:0002359
5660	PSAP	Myoclonus	HP:0001336
5660	PSAP	Cholecystitis	HP:0001082
5660	PSAP	Respiratory failure	HP:0002878
5660	PSAP	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
5660	PSAP	Feeding difficulties	HP:0011968
5660	PSAP	Hepatomegaly	HP:0002240
5660	PSAP	Loss of speech	HP:0002371
5660	PSAP	Hyperreflexia	HP:0001347
5660	PSAP	Abdominal distention	HP:0003270
5660	PSAP	Emotional lability	HP:0000712
5660	PSAP	Progressive gait ataxia	HP:0007240
5660	PSAP	Developmental regression	HP:0002376
5660	PSAP	Fasciculations	HP:0002380
5660	PSAP	Depressivity	HP:0000716
5660	PSAP	Splenomegaly	HP:0001744
5660	PSAP	Thrombocytopenia	HP:0001873
5660	PSAP	Abnormality of the periventricular white matter	HP:0002518
5660	PSAP	Dementia	HP:0000726
5660	PSAP	Peripheral demyelination	HP:0011096
5660	PSAP	Progressive peripheral neuropathy	HP:0007133
5660	PSAP	Neoplasm of the gallbladder	HP:0100575
5660	PSAP	Dysphagia	HP:0002015
5660	PSAP	Short attention span	HP:0000736
5660	PSAP	Neuronal loss in central nervous system	HP:0002529
5660	PSAP	Cerebral dysmyelination	HP:0007266
5660	PSAP	Seizures	HP:0001250
5660	PSAP	Hallucinations	HP:0000738
5660	PSAP	Muscular hypotonia	HP:0001252
5660	PSAP	Progressive psychomotor deterioration	HP:0007272
5660	PSAP	Spasticity	HP:0001257
5660	PSAP	Increased CSF protein	HP:0002922
5660	PSAP	Delusions	HP:0000746
5660	PSAP	Global brain atrophy	HP:0002283
5660	PSAP	Death in childhood	HP:0003819
5660	PSAP	Dysarthria	HP:0001260
5660	PSAP	Reduced visual acuity	HP:0007663
5660	PSAP	Leukodystrophy	HP:0002415
5660	PSAP	Global developmental delay	HP:0001263
5660	PSAP	Anemia	HP:0001903
5660	PSAP	Erlenmeyer flask deformity of the femurs	HP:0004975
5660	PSAP	Abnormality of eye movement	HP:0000496
5660	PSAP	Hyporeflexia	HP:0001265
5660	PSAP	Death in infancy	HP:0001522
5660	PSAP	EMG: chronic denervation signs	HP:0003444
5660	PSAP	Mental deterioration	HP:0001268
5660	PSAP	Variable expressivity	HP:0003828
5660	PSAP	Abnormality of glycosphingolipid metabolism	HP:0004343
5660	PSAP	Polyneuropathy	HP:0001271
5660	PSAP	Congenital onset	HP:0003577
5660	PSAP	Decreased nerve conduction velocity	HP:0000762
5660	PSAP	Hypertonia	HP:0001276
5660	PSAP	Vegetative state	HP:0031358
5663	PSEN1	Collectionism	HP:0030212
5663	PSEN1	Spastic tetraparesis	HP:0001285
5663	PSEN1	Emotional blunting	HP:0030213
5663	PSEN1	Autosomal dominant inheritance	HP:0000006
5663	PSEN1	Gait disturbance	HP:0001288
5663	PSEN1	Confusion	HP:0001289
5663	PSEN1	Semantic dementia	HP:0030219
5663	PSEN1	Visual agnosia	HP:0030222
5663	PSEN1	Perseveration	HP:0030223
5663	PSEN1	Parkinsonism	HP:0001300
5663	PSEN1	Generalized tonic-clonic seizures	HP:0002069
5663	PSEN1	Abnormality of extrapyramidal motor function	HP:0002071
5663	PSEN1	Dyslexia	HP:0010522
5663	PSEN1	Alexia	HP:0010523
5663	PSEN1	Agnosia	HP:0010524
5663	PSEN1	Finger agnosia	HP:0010525
5663	PSEN1	Dysgraphia	HP:0010526
5663	PSEN1	Polyphagia	HP:0002591
5663	PSEN1	Echolalia	HP:0010529
5663	PSEN1	Perifolliculitis	HP:0012322
5663	PSEN1	Memory impairment	HP:0002354
5663	PSEN1	Dystonia	HP:0001332
5663	PSEN1	Dysphasia	HP:0002357
5663	PSEN1	Myoclonus	HP:0001336
5663	PSEN1	Abnormal lower motor neuron morphology	HP:0002366
5663	PSEN1	Anomia	HP:0030784
5663	PSEN1	Inappropriate sexual behavior	HP:0008768
5663	PSEN1	Grammar-specific speech disorder	HP:0006977
5663	PSEN1	Loss of speech	HP:0002371
5663	PSEN1	Hyperreflexia	HP:0001347
5663	PSEN1	Cerebral cortical atrophy	HP:0002120
5663	PSEN1	Fasciculations	HP:0002380
5663	PSEN1	Aphasia	HP:0002381
5663	PSEN1	Abnormality of neutrophils	HP:0001874
5663	PSEN1	Lower limb hyperreflexia	HP:0002395
5663	PSEN1	Rapidly progressive	HP:0003678
5663	PSEN1	Frontotemporal dementia	HP:0002145
5663	PSEN1	Congestive heart failure	HP:0001635
5663	PSEN1	Dilated cardiomyopathy	HP:0001644
5663	PSEN1	Abnormal brain FDG positron emission tomography	HP:0012658
5663	PSEN1	Gliosis	HP:0002171
5663	PSEN1	Motor aphasia	HP:0002427
5663	PSEN1	Optic ataxia	HP:0031868
5663	PSEN1	Chronic furunculosis	HP:0011132
5663	PSEN1	Myopathy	HP:0003198
5663	PSEN1	Abulia	HP:0012671
5663	PSEN1	EMG abnormality	HP:0003457
5663	PSEN1	Neurofibrillary tangles	HP:0002185
5663	PSEN1	Apraxia	HP:0002186
5663	PSEN1	Dyscalculia	HP:0002442
5663	PSEN1	Astrocytosis	HP:0002446
5663	PSEN1	Heterogeneous	HP:0001425
5663	PSEN1	Abnormal social behavior	HP:0012433
5663	PSEN1	Oculomotor apraxia	HP:0000657
5663	PSEN1	Sensorineural hearing impairment	HP:0000407
5663	PSEN1	Brain atrophy	HP:0012444
5663	PSEN1	Language impairment	HP:0002463
5663	PSEN1	Babinski sign	HP:0003487
5663	PSEN1	Sporadic	HP:0003745
5663	PSEN1	Poor speech	HP:0002465
5663	PSEN1	Senile plaques	HP:0100256
5663	PSEN1	Elevated serum creatine kinase	HP:0003236
5663	PSEN1	Primitive reflex	HP:0002476
5663	PSEN1	Spoken Word Recognition Deficit	HP:0030391
5663	PSEN1	Amyotrophic lateral sclerosis	HP:0007354
5663	PSEN1	Upper motor neuron dysfunction	HP:0002493
5663	PSEN1	EEG with continuous slow activity	HP:0011204
5663	PSEN1	Abnormality of the cerebral white matter	HP:0002500
5663	PSEN1	Psychosis	HP:0000709
5663	PSEN1	Hyperorality	HP:0000710
5663	PSEN1	Restlessness	HP:0000711
5663	PSEN1	Temporal cortical atrophy	HP:0007112
5663	PSEN1	Agitation	HP:0000713
5663	PSEN1	Depressivity	HP:0000716
5663	PSEN1	Aggressive behavior	HP:0000718
5663	PSEN1	Alzheimer disease	HP:0002511
5663	PSEN1	Deposits immunoreactive to beta-amyloid protein	HP:0003791
5663	PSEN1	Inappropriate behavior	HP:0000719
5663	PSEN1	Restrictive behavior	HP:0000723
5663	PSEN1	Dementia	HP:0000726
5663	PSEN1	Palmoplantar keratoderma	HP:0000982
5663	PSEN1	Frontal lobe dementia	HP:0000727
5663	PSEN1	Acne inversa	HP:0040154
5663	PSEN1	Thickened nuchal skin fold	HP:0000474
5663	PSEN1	Stereotypy	HP:0000733
5663	PSEN1	Disinhibition	HP:0000734
5663	PSEN1	Dysphagia	HP:0002015
5663	PSEN1	Irritability	HP:0000737
5663	PSEN1	Neuronal loss in central nervous system	HP:0002529
5663	PSEN1	Intellectual disability	HP:0001249
5663	PSEN1	Seizures	HP:0001250
5663	PSEN1	Hallucinations	HP:0000738
5663	PSEN1	Lipoatrophy	HP:0100578
5663	PSEN1	Ataxia	HP:0001251
5663	PSEN1	Anxiety	HP:0000739
5663	PSEN1	Apathy	HP:0000741
5663	PSEN1	Recurrent cutaneous abscess formation	HP:0100838
5663	PSEN1	Inappropriate laughter	HP:0000748
5663	PSEN1	Dysarthria	HP:0001260
5663	PSEN1	Frontotemporal cerebral atrophy	HP:0006892
5663	PSEN1	Personality changes	HP:0000751
5663	PSEN1	Lack of insight	HP:0000757
5663	PSEN1	Abnormality of vision	HP:0000504
5663	PSEN1	Hypertonia	HP:0001276
5663	PSEN1	Mutism	HP:0002300
5663	PSEN1	Adult onset	HP:0003581
5663	PSEN1	Syncope	HP:0001279
5664	PSEN2	EMG abnormality	HP:0003457
5664	PSEN2	Cerebral amyloid angiopathy	HP:0011970
5664	PSEN2	Sleep-wake cycle disturbance	HP:0006979
5664	PSEN2	Autosomal dominant inheritance	HP:0000006
5664	PSEN2	Cerebral cortical atrophy	HP:0002120
5664	PSEN2	Neurofibrillary tangles	HP:0002185
5664	PSEN2	Agitation	HP:0000713
5664	PSEN2	Confusion	HP:0001289
5664	PSEN2	Semantic dementia	HP:0030219
5664	PSEN2	Middle age onset	HP:0003596
5664	PSEN2	Aphasia	HP:0002381
5664	PSEN2	Deposits immunoreactive to beta-amyloid protein	HP:0003791
5664	PSEN2	Alzheimer disease	HP:0002511
5664	PSEN2	Abnormal social behavior	HP:0012433
5664	PSEN2	Oculomotor apraxia	HP:0000657
5664	PSEN2	Abnormality of neutrophils	HP:0001874
5664	PSEN2	Parkinsonism	HP:0001300
5664	PSEN2	Palmoplantar keratoderma	HP:0000982
5664	PSEN2	Dementia	HP:0000726
5664	PSEN2	Sensorineural hearing impairment	HP:0000407
5664	PSEN2	Finger agnosia	HP:0010525
5664	PSEN2	Dysgraphia	HP:0010526
5664	PSEN2	Disinhibition	HP:0000734
5664	PSEN2	Language impairment	HP:0002463
5664	PSEN2	Intellectual disability	HP:0001249
5664	PSEN2	Senile plaques	HP:0100256
5664	PSEN2	Hallucinations	HP:0000738
5664	PSEN2	Seizures	HP:0001250
5664	PSEN2	Congestive heart failure	HP:0001635
5664	PSEN2	Lipoatrophy	HP:0100578
5664	PSEN2	Ataxia	HP:0001251
5664	PSEN2	Elevated serum creatine kinase	HP:0003236
5664	PSEN2	Dilated cardiomyopathy	HP:0001644
5664	PSEN2	Memory impairment	HP:0002354
5664	PSEN2	Myoclonus	HP:0001336
5664	PSEN2	Abnormality of vision	HP:0000504
5664	PSEN2	Hypertonia	HP:0001276
5664	PSEN2	Myopathy	HP:0003198
5664	PSEN2	Syncope	HP:0001279
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	Autosomal recessive inheritance	HP:0000007
54820	NDE1	Ventriculomegaly	HP:0002119
54820	NDE1	Proptosis	HP:0000520
54820	NDE1	Intellectual disability, profound	HP:0002187
54820	NDE1	Generalized myoclonic seizures	HP:0002123
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	Simplified gyral pattern	HP:0009879
54820	NDE1	Short stature	HP:0004322
54820	NDE1	Seizures	HP:0001250
54820	NDE1	Talipes equinovarus	HP:0001762
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
54832	VPS13C	Akinesia	HP:0002304
54832	VPS13C	Hyperreflexia	HP:0001347
54832	VPS13C	Autosomal recessive inheritance	HP:0000007
54832	VPS13C	Cerebral cortical atrophy	HP:0002120
54832	VPS13C	Neurofibrillary tangles	HP:0002185
54832	VPS13C	Spasticity	HP:0001257
54832	VPS13C	Abnormal autonomic nervous system physiology	HP:0012332
54832	VPS13C	Rigidity	HP:0002063
54832	VPS13C	Resting tremor	HP:0002322
54832	VPS13C	Limb dystonia	HP:0002451
54832	VPS13C	Parkinsonism	HP:0001300
54832	VPS13C	Mental deterioration	HP:0001268
54832	VPS13C	Dementia	HP:0000726
54832	VPS13C	Abnormal pyramidal sign	HP:0007256
54832	VPS13C	Lewy bodies	HP:0100315
54832	VPS13C	Progressive	HP:0003676
169522	KCNV2	Myopia	HP:0000545
169522	KCNV2	Astigmatism	HP:0000483
169522	KCNV2	Cone/cone-rod dystrophy	HP:0000548
169522	KCNV2	Photophobia	HP:0000613
169522	KCNV2	Nyctalopia	HP:0000662
169522	KCNV2	Strabismus	HP:0000486
169522	KCNV2	Autosomal recessive inheritance	HP:0000007
169522	KCNV2	Macular atrophy	HP:0007401
169522	KCNV2	Horizontal nystagmus	HP:0000666
169522	KCNV2	Scotoma	HP:0000575
79415	CYBC1	Cutaneous photosensitivity	HP:0000992
79415	CYBC1	Hepatomegaly	HP:0002240
79415	CYBC1	Eczema	HP:0000964
79415	CYBC1	Otitis media	HP:0000388
79415	CYBC1	Pyloric stenosis	HP:0002021
79415	CYBC1	Gingivitis	HP:0000230
79415	CYBC1	Sepsis	HP:0100806
79415	CYBC1	Meningitis	HP:0001287
79415	CYBC1	Malabsorption	HP:0002024
79415	CYBC1	Skin ulcer	HP:0200042
79415	CYBC1	Hypermelanotic macule	HP:0001034
79415	CYBC1	Liver abscess	HP:0100523
79415	CYBC1	Chronic obstructive pulmonary disease	HP:0006510
79415	CYBC1	Tracheoesophageal fistula	HP:0002575
79415	CYBC1	Mediastinal lymphadenopathy	HP:0100721
79415	CYBC1	Splenomegaly	HP:0001744
79415	CYBC1	Abnormality of neutrophils	HP:0001874
79415	CYBC1	Inflammatory abnormality of the eye	HP:0100533
79415	CYBC1	Sinusitis	HP:0000246
79415	CYBC1	Fever	HP:0001945
79415	CYBC1	Recurrent respiratory infections	HP:0002205
54840	APTX	Gaze-evoked nystagmus	HP:0000640
54840	APTX	Hypoalbuminemia	HP:0003073
54840	APTX	Areflexia	HP:0001284
54840	APTX	Autosomal recessive inheritance	HP:0000007
54840	APTX	Gait disturbance	HP:0001288
54840	APTX	Axonal degeneration	HP:0040078
54840	APTX	Progressive external ophthalmoplegia	HP:0000590
54840	APTX	Oculomotor apraxia	HP:0000657
54840	APTX	Gait ataxia	HP:0002066
54840	APTX	Limb ataxia	HP:0002070
54840	APTX	Dementia	HP:0000726
54840	APTX	Scoliosis	HP:0002650
54840	APTX	Truncal ataxia	HP:0002078
54840	APTX	Pes cavus	HP:0001761
54840	APTX	Ataxia	HP:0001251
54840	APTX	Juvenile onset	HP:0003621
54840	APTX	Peripheral neuropathy	HP:0009830
54840	APTX	Dysarthria	HP:0001260
54840	APTX	Muscle weakness	HP:0001324
54840	APTX	Distal amyotrophy	HP:0003693
54840	APTX	Hyporeflexia	HP:0001265
54840	APTX	Choreoathetosis	HP:0001266
54840	APTX	Mental deterioration	HP:0001268
54840	APTX	Dystonia	HP:0001332
54840	APTX	Hypercholesterolemia	HP:0003124
54840	APTX	Cerebellar atrophy	HP:0001272
54840	APTX	Distal sensory impairment	HP:0002936
54840	APTX	Tremor	HP:0001337
54840	APTX	Hypometric saccades	HP:0000571
54840	APTX	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
54840	APTX	Medial flaring of the eyebrow	HP:0010747
54840	APTX	Peripheral axonal degeneration	HP:0000764
54840	APTX	Adult onset	HP:0003581
54840	APTX	Cognitive impairment	HP:0100543
5692	PSMB4	Lymphopenia	HP:0001888
5692	PSMB4	Recurrent fever	HP:0001954
5692	PSMB4	Failure to thrive	HP:0001508
5692	PSMB4	Lipodystrophy	HP:0009125
5692	PSMB4	Myositis	HP:0100614
5692	PSMB4	Panniculitis	HP:0012490
5692	PSMB4	Hypertriglyceridemia	HP:0002155
5692	PSMB4	Arthralgia	HP:0002829
5692	PSMB4	Elevated erythrocyte sedimentation rate	HP:0003565
5692	PSMB4	Increased antibody level in blood	HP:0010702
5692	PSMB4	Anemia	HP:0001903
5692	PSMB4	Thrombocytopenia	HP:0001873
5692	PSMB4	Arthritis	HP:0001369
5692	PSMB4	Periorbital edema	HP:0100539
5692	PSMB4	Flexion contracture	HP:0001371
5692	PSMB4	Lymphadenopathy	HP:0002716
5692	PSMB4	Acanthosis nigricans	HP:0000956
5692	PSMB4	Skin rash	HP:0000988
5692	PSMB4	Conjunctivitis	HP:0000509
5692	PSMB4	Elevated hepatic transaminase	HP:0002910
5692	PSMB4	Recurrent infections	HP:0002719
284217	LAMA1	Myopia	HP:0000545
284217	LAMA1	Amblyopia	HP:0000646
284217	LAMA1	Strabismus	HP:0000486
284217	LAMA1	Autosomal recessive inheritance	HP:0000007
284217	LAMA1	Cerebellar vermis hypoplasia	HP:0001320
284217	LAMA1	Gray matter heterotopia	HP:0002282
284217	LAMA1	Generalized hypotonia	HP:0001290
284217	LAMA1	Retinal dystrophy	HP:0000556
284217	LAMA1	Cerebellar cyst	HP:0002350
284217	LAMA1	Delayed speech and language development	HP:0000750
284217	LAMA1	Retinal atrophy	HP:0001105
284217	LAMA1	Oculomotor apraxia	HP:0000657
284217	LAMA1	Variable expressivity	HP:0003828
284217	LAMA1	Motor delay	HP:0001270
284217	LAMA1	Abnormality of the periventricular white matter	HP:0002518
284217	LAMA1	Dilated fourth ventricle	HP:0002198
284217	LAMA1	Retinal thinning	HP:0030329
284217	LAMA1	Cerebellar dysplasia	HP:0007033
284217	LAMA1	Nystagmus	HP:0000639
5696	PSMB8	Skeletal muscle atrophy	HP:0003202
5696	PSMB8	Autosomal recessive inheritance	HP:0000007
5696	PSMB8	Camptodactyly of finger	HP:0100490
5696	PSMB8	Arthralgia	HP:0002829
5696	PSMB8	Arachnodactyly	HP:0001166
5696	PSMB8	Microcytic anemia	HP:0001935
5696	PSMB8	Macrotia	HP:0000400
5696	PSMB8	Clubbing of fingers	HP:0100759
5696	PSMB8	Clubbing of toes	HP:0100760
5696	PSMB8	Arrhythmia	HP:0011675
5696	PSMB8	Lymphadenopathy	HP:0002716
5696	PSMB8	Macroglossia	HP:0000158
5696	PSMB8	Erythema	HP:0010783
5696	PSMB8	Recurrent fever	HP:0001954
5696	PSMB8	Abnormality of the Leydig cells	HP:0010789
5696	PSMB8	Lipodystrophy	HP:0009125
5696	PSMB8	Hyperostosis	HP:0100774
5696	PSMB8	Osteopenia	HP:0000938
5696	PSMB8	Finger swelling	HP:0025131
5696	PSMB8	Elbow flexion contracture	HP:0002987
5696	PSMB8	Muscle weakness	HP:0001324
5696	PSMB8	Respiratory insufficiency	HP:0002093
5696	PSMB8	Thick lower lip vermilion	HP:0000179
5696	PSMB8	Episcleritis	HP:0100534
5696	PSMB8	Adipose tissue loss	HP:0008887
5696	PSMB8	Hyperpigmentation of the skin	HP:0000953
5696	PSMB8	Erythema nodosum	HP:0012219
5696	PSMB8	Hepatomegaly	HP:0002240
5696	PSMB8	Right bundle branch block	HP:0011712
5696	PSMB8	Prominent nose	HP:0000448
5696	PSMB8	Abnormally large globe	HP:0001090
5696	PSMB8	Long fingers	HP:0100807
5696	PSMB8	Flexion contracture of toe	HP:0005830
5696	PSMB8	Subcutaneous nodule	HP:0001482
5696	PSMB8	Panniculitis	HP:0012490
5696	PSMB8	Increased antibody level in blood	HP:0010702
5696	PSMB8	Hyperhidrosis	HP:0000975
5696	PSMB8	Splenomegaly	HP:0001744
5696	PSMB8	Thrombocytopenia	HP:0001873
5696	PSMB8	Basal ganglia calcification	HP:0002135
5696	PSMB8	Abnormal pyramidal sign	HP:0007256
5696	PSMB8	Skin rash	HP:0000988
5696	PSMB8	Bone pain	HP:0002653
5696	PSMB8	Elevated hepatic transaminase	HP:0002910
5696	PSMB8	Seizures	HP:0001250
5696	PSMB8	Short stature	HP:0004322
5696	PSMB8	Congestive heart failure	HP:0001635
5696	PSMB8	Lipoatrophy	HP:0100578
5696	PSMB8	Growth abnormality	HP:0001507
5696	PSMB8	Failure to thrive	HP:0001508
5696	PSMB8	Stiff skin	HP:0030053
5696	PSMB8	Cardiomegaly	HP:0001640
5696	PSMB8	Intellectual disability, mild	HP:0001256
5696	PSMB8	Joint stiffness	HP:0001387
5696	PSMB8	Hypertriglyceridemia	HP:0002155
5696	PSMB8	Elevated erythrocyte sedimentation rate	HP:0003565
5696	PSMB8	Anemia	HP:0001903
5696	PSMB8	Arthrogryposis multiplex congenita	HP:0002804
5696	PSMB8	Conjunctivitis	HP:0000509
5698	PSMB9	Lymphopenia	HP:0001888
5698	PSMB9	Recurrent fever	HP:0001954
5698	PSMB9	Failure to thrive	HP:0001508
5698	PSMB9	Lipodystrophy	HP:0009125
5698	PSMB9	Myositis	HP:0100614
5698	PSMB9	Panniculitis	HP:0012490
5698	PSMB9	Hypertriglyceridemia	HP:0002155
5698	PSMB9	Arthralgia	HP:0002829
5698	PSMB9	Elevated erythrocyte sedimentation rate	HP:0003565
5698	PSMB9	Increased antibody level in blood	HP:0010702
5698	PSMB9	Anemia	HP:0001903
5698	PSMB9	Thrombocytopenia	HP:0001873
5698	PSMB9	Arthritis	HP:0001369
5698	PSMB9	Periorbital edema	HP:0100539
5698	PSMB9	Flexion contracture	HP:0001371
5698	PSMB9	Lymphadenopathy	HP:0002716
5698	PSMB9	Acanthosis nigricans	HP:0000956
5698	PSMB9	Skin rash	HP:0000988
5698	PSMB9	Conjunctivitis	HP:0000509
5698	PSMB9	Elevated hepatic transaminase	HP:0002910
5698	PSMB9	Recurrent infections	HP:0002719
54862	CC2D1A	Hyperactivity	HP:0000752
54862	CC2D1A	Intellectual disability, severe	HP:0010864
54862	CC2D1A	Short attention span	HP:0000736
54862	CC2D1A	Incomprehensible speech	HP:0002546
54862	CC2D1A	Hypomimic face	HP:0000338
54862	CC2D1A	Juvenile onset	HP:0003621
54862	CC2D1A	Autosomal recessive inheritance	HP:0000007
54862	CC2D1A	Intellectual disability, progressive	HP:0006887
54862	CC2D1A	Global developmental delay	HP:0001263
79443	FYCO1	Cataract	HP:0000518
79443	FYCO1	Autosomal recessive inheritance	HP:0000007
5718	PSMD12	Patent ductus arteriosus after birth at term	HP:0011648
5718	PSMD12	Abnormal cardiac septum morphology	HP:0001671
5718	PSMD12	Pineal cyst	HP:0012683
5718	PSMD12	Recurrent otitis media	HP:0000403
5718	PSMD12	Retrognathia	HP:0000278
5718	PSMD12	Cubitus valgus	HP:0002967
5718	PSMD12	Midface retrusion	HP:0011800
5718	PSMD12	Synophrys	HP:0000664
5718	PSMD12	Progressive conductive hearing impairment	HP:0008607
5718	PSMD12	Myopia	HP:0000545
5718	PSMD12	Truncal obesity	HP:0001956
5718	PSMD12	Broad thumb	HP:0011304
5718	PSMD12	Impaired visuospatial constructive cognition	HP:0010794
5718	PSMD12	Wide nasal bridge	HP:0000431
5718	PSMD12	Hypospadias	HP:0000047
5718	PSMD12	Shawl scrotum	HP:0000049
5718	PSMD12	Absent thumb	HP:0009777
5718	PSMD12	Short thumb	HP:0009778
5718	PSMD12	Misalignment of teeth	HP:0000692
5718	PSMD12	Micropenis	HP:0000054
5718	PSMD12	Hypertelorism	HP:0000316
5718	PSMD12	Thick eyebrow	HP:0000574
5718	PSMD12	Feeding difficulties	HP:0011968
5718	PSMD12	Short philtrum	HP:0000322
5718	PSMD12	Facial asymmetry	HP:0000324
5718	PSMD12	Triangular face	HP:0000325
5718	PSMD12	Abnormality of the wrist	HP:0003019
5718	PSMD12	Vesicoureteral reflux	HP:0000076
5718	PSMD12	Aggressive behavior	HP:0000718
5718	PSMD12	Mood swings	HP:0000720
5718	PSMD12	Abnormality of the ankles	HP:0003028
5718	PSMD12	Short neck	HP:0000470
5718	PSMD12	Scoliosis	HP:0002650
5718	PSMD12	Broad neck	HP:0000475
5718	PSMD12	Thin upper lip vermilion	HP:0000219
5718	PSMD12	Micrognathia	HP:0000347
5718	PSMD12	Upper limb undergrowth	HP:0009824
5718	PSMD12	Cerebral visual impairment	HP:0100704
5718	PSMD12	Intellectual disability	HP:0001249
5718	PSMD12	Seizures	HP:0001250
5718	PSMD12	Hallucinations	HP:0000738
5718	PSMD12	Anxiety	HP:0000739
5718	PSMD12	Secondary amenorrhea	HP:0000869
5718	PSMD12	Strabismus	HP:0000486
5718	PSMD12	Generalized neonatal hypotonia	HP:0008935
5718	PSMD12	Microtia	HP:0008551
5718	PSMD12	Intellectual disability, mild	HP:0001256
5718	PSMD12	Deeply set eye	HP:0000490
5718	PSMD12	Pulmonic stenosis	HP:0001642
5718	PSMD12	Otosclerosis	HP:0000362
5718	PSMD12	Patent ductus arteriosus	HP:0001643
5718	PSMD12	Hearing impairment	HP:0000365
5718	PSMD12	Downslanted palpebral fissures	HP:0000494
5718	PSMD12	Delayed speech and language development	HP:0000750
5718	PSMD12	Global developmental delay	HP:0001263
5718	PSMD12	Low-set ears	HP:0000369
5718	PSMD12	Hemihypotrophy of lower limb	HP:0200053
5718	PSMD12	Prolonged QT interval	HP:0001657
5718	PSMD12	Failure to thrive in infancy	HP:0001531
5718	PSMD12	Ptosis	HP:0000508
5718	PSMD12	Truncus arteriosus	HP:0001660
5718	PSMD12	Nystagmus	HP:0000639
54870	QRICH1	Prominent nose	HP:0000448
54870	QRICH1	Intention tremor	HP:0002080
54870	QRICH1	Upslanted palpebral fissure	HP:0000582
54870	QRICH1	Broad nasal tip	HP:0000455
54870	QRICH1	Intrauterine growth retardation	HP:0001511
54870	QRICH1	Everted lower lip vermilion	HP:0000232
54870	QRICH1	Intellectual disability, mild	HP:0001256
54870	QRICH1	Unsteady gait	HP:0002317
54870	QRICH1	Delayed speech and language development	HP:0000750
54870	QRICH1	Abnormal facial shape	HP:0001999
54870	QRICH1	Low-set ears	HP:0000369
54870	QRICH1	Cupped ear	HP:0000378
54870	QRICH1	Wide mouth	HP:0000154
54870	QRICH1	Thin upper lip vermilion	HP:0000219
54870	QRICH1	Hypertelorism	HP:0000316
54870	QRICH1	Ptosis	HP:0000508
54870	QRICH1	Wide nose	HP:0000445
54870	QRICH1	Smooth philtrum	HP:0000319
374354	NHLRC2	Feeding difficulties	HP:0011968
374354	NHLRC2	Hepatomegaly	HP:0002240
374354	NHLRC2	Irritability	HP:0000737
374354	NHLRC2	Seizures	HP:0001250
374354	NHLRC2	Reticulocytosis	HP:0001923
374354	NHLRC2	Tachypnea	HP:0002789
374354	NHLRC2	Chronic hemolytic anemia	HP:0004870
374354	NHLRC2	Strabismus	HP:0000486
374354	NHLRC2	Muscular hypotonia of the trunk	HP:0008936
374354	NHLRC2	Anisocytosis	HP:0011273
374354	NHLRC2	Decreased mean corpuscular volume	HP:0025066
374354	NHLRC2	Global developmental delay	HP:0001263
374354	NHLRC2	Atelectasis	HP:0100750
374354	NHLRC2	Dystonia	HP:0001332
374354	NHLRC2	Diarrhea	HP:0002014
374354	NHLRC2	Poikilocytosis	HP:0004447
374354	NHLRC2	Hypoplasia of the corpus callosum	HP:0002079
284252	KCTD1	Small earlobe	HP:0000385
284252	KCTD1	Sparse hair	HP:0008070
284252	KCTD1	Autosomal dominant inheritance	HP:0000006
284252	KCTD1	Cataract	HP:0000518
284252	KCTD1	Developmental cataract	HP:0000519
284252	KCTD1	Underdeveloped tragus	HP:0011272
284252	KCTD1	Recurrent urinary tract infections	HP:0000010
284252	KCTD1	Abnormality of the antihelix	HP:0009738
284252	KCTD1	Protruding ear	HP:0000411
284252	KCTD1	Epicanthus	HP:0000286
284252	KCTD1	Depressed nasal bridge	HP:0005280
284252	KCTD1	Aplasia cutis congenita	HP:0001057
284252	KCTD1	3-4 finger cutaneous syndactyly	HP:0011939
284252	KCTD1	Fine hair	HP:0002213
284252	KCTD1	Pyelonephritis	HP:0012330
284252	KCTD1	Type I diabetes mellitus	HP:0100651
284252	KCTD1	Delayed eruption of teeth	HP:0000684
284252	KCTD1	Abnormality of the scalp	HP:0001965
284252	KCTD1	Breast aplasia	HP:0100783
284252	KCTD1	Mandibular prognathia	HP:0000303
284252	KCTD1	Abnormality of the endocrine system	HP:0000818
284252	KCTD1	Aplasia/Hypoplasia of the nipples	HP:0006709
284252	KCTD1	Hypertension	HP:0000822
284252	KCTD1	Abnormality of the skin	HP:0000951
284252	KCTD1	Abnormal hair morphology	HP:0001595
284252	KCTD1	Abnormality of the nail	HP:0001597
284252	KCTD1	Palpebral edema	HP:0100540
284252	KCTD1	Blepharophimosis	HP:0000581
284252	KCTD1	Hypohidrosis	HP:0000966
284252	KCTD1	Ureteral duplication	HP:0000073
284252	KCTD1	Duplication of renal pelvis	HP:0005580
284252	KCTD1	Agenesis of permanent teeth	HP:0006349
284252	KCTD1	Anteverted nares	HP:0000463
284252	KCTD1	Abnormal fingernail morphology	HP:0001231
284252	KCTD1	Short columella	HP:0002000
284252	KCTD1	Renal insufficiency	HP:0000083
284252	KCTD1	2-3 toe syndactyly	HP:0004691
284252	KCTD1	Renal hypoplasia	HP:0000089
284252	KCTD1	Hypotelorism	HP:0000601
284252	KCTD1	Narrow palpebral fissure	HP:0045025
284252	KCTD1	Iris coloboma	HP:0000612
284252	KCTD1	Microtia	HP:0008551
284252	KCTD1	Renal agenesis	HP:0000104
284252	KCTD1	Low-set ears	HP:0000369
284252	KCTD1	Eyelid coloboma	HP:0000625
284252	KCTD1	Underdeveloped antitragus	HP:0011251
284252	KCTD1	Nail dysplasia	HP:0002164
284252	KCTD1	Cupped ear	HP:0000378
284252	KCTD1	Telecanthus	HP:0000506
284252	KCTD1	Abnormality of the thorax	HP:0000765
54872	PIGG	Absent speech	HP:0001344
54872	PIGG	Seizures	HP:0001250
54872	PIGG	Ataxia	HP:0001251
54872	PIGG	Intrauterine growth retardation	HP:0001511
54872	PIGG	Autosomal recessive inheritance	HP:0000007
54872	PIGG	Cerebellar hypoplasia	HP:0001321
54872	PIGG	Generalized hypotonia	HP:0001290
54872	PIGG	Cerebral atrophy	HP:0002059
54872	PIGG	Intellectual disability, profound	HP:0002187
54872	PIGG	Severe muscular hypotonia	HP:0006829
54872	PIGG	Delayed speech and language development	HP:0000750
54872	PIGG	Global developmental delay	HP:0001263
54872	PIGG	Hyporeflexia	HP:0001265
54872	PIGG	EEG with focal spikes	HP:0011193
54872	PIGG	Congenital onset	HP:0003577
54872	PIGG	Hypoplasia of the corpus callosum	HP:0002079
5723	PSPH	Feeding difficulties	HP:0011968
5723	PSPH	Postnatal growth retardation	HP:0008897
5723	PSPH	Intellectual disability	HP:0001249
5723	PSPH	Seizures	HP:0001250
5723	PSPH	Gastroesophageal reflux	HP:0002020
5723	PSPH	Full cheeks	HP:0000293
5723	PSPH	Intellectual disability, moderate	HP:0002342
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	Global developmental delay	HP:0001263
5723	PSPH	Hypospadias	HP:0000047
5723	PSPH	Abnormal facial shape	HP:0001999
5723	PSPH	Broad forehead	HP:0000337
5723	PSPH	Generalized tonic-clonic seizures	HP:0002069
5723	PSPH	Narrow forehead	HP:0000341
5723	PSPH	Hyposerinemia	HP:0012279
5723	PSPH	Esophagitis	HP:0100633
5723	PSPH	Wide mouth	HP:0000154
5723	PSPH	Micrognathia	HP:0000347
5723	PSPH	Hypertonia	HP:0001276
5723	PSPH	Microcephaly	HP:0000252
5723	PSPH	Palpebral edema	HP:0100540
5727	PTCH1	Macrocephaly	HP:0000256
5727	PTCH1	Umbilical hernia	HP:0001537
5727	PTCH1	Cardiac rhabdomyoma	HP:0009729
5727	PTCH1	Omphalocele	HP:0001539
5727	PTCH1	Abnormality of the ribs	HP:0000772
5727	PTCH1	Arnold-Chiari malformation	HP:0002308
5727	PTCH1	Hemangioma	HP:0001028
5727	PTCH1	Short ribs	HP:0000773
5727	PTCH1	Cataract	HP:0000518
5727	PTCH1	Autosomal dominant inheritance	HP:0000006
5727	PTCH1	Coarse facial features	HP:0000280
5727	PTCH1	Midface retrusion	HP:0011800
5727	PTCH1	Midline defect of the nose	HP:0004122
5727	PTCH1	Broad face	HP:0000283
5727	PTCH1	Cryptorchidism	HP:0000028
5727	PTCH1	Epicanthus	HP:0000286
5727	PTCH1	Milia	HP:0001056
5727	PTCH1	Hypoplasia of penis	HP:0008736
5727	PTCH1	Rhabdomyosarcoma	HP:0002859
5727	PTCH1	Hypogonadotrophic hypogonadism	HP:0000044
5727	PTCH1	Mandibular prognathia	HP:0000303
5727	PTCH1	Asthma	HP:0002099
5727	PTCH1	Tented upper lip vermilion	HP:0010804
5727	PTCH1	Hypothyroidism	HP:0000821
5727	PTCH1	Median cleft lip and palate	HP:0008501
5727	PTCH1	Microphthalmia	HP:0000568
5727	PTCH1	Abnormality of the sense of smell	HP:0004408
5727	PTCH1	Joint hyperflexibility	HP:0005692
5727	PTCH1	Short 4th metacarpal	HP:0010044
5727	PTCH1	Hypertelorism	HP:0000316
5727	PTCH1	Ambiguous genitalia	HP:0000062
5727	PTCH1	Metopic synostosis	HP:0011330
5727	PTCH1	Short philtrum	HP:0000322
5727	PTCH1	Medulloblastoma	HP:0002885
5727	PTCH1	Upslanted palpebral fissure	HP:0000582
5727	PTCH1	Ventriculomegaly	HP:0002119
5727	PTCH1	Maternal diabetes	HP:0009800
5727	PTCH1	Bridged sella turcica	HP:0005449
5727	PTCH1	Alobar holoprosencephaly	HP:0006988
5727	PTCH1	Holoprosencephaly	HP:0001360
5727	PTCH1	Calcification of falx cerebri	HP:0005462
5727	PTCH1	Down-sloping shoulders	HP:0200021
5727	PTCH1	Premature birth	HP:0001622
5727	PTCH1	Long philtrum	HP:0000343
5727	PTCH1	Hypotelorism	HP:0000601
5727	PTCH1	Scoliosis	HP:0002650
5727	PTCH1	Flat occiput	HP:0005469
5727	PTCH1	Tall stature	HP:0000098
5727	PTCH1	Iris coloboma	HP:0000612
5727	PTCH1	Tetralogy of Fallot	HP:0001636
5727	PTCH1	Panhypopituitarism	HP:0000871
5727	PTCH1	Renal agenesis	HP:0000104
5727	PTCH1	Neoplasm	HP:0002664
5727	PTCH1	Nephroblastoma	HP:0002667
5727	PTCH1	Odontogenic keratocysts of the jaw	HP:0010603
5727	PTCH1	Spina bifida	HP:0002414
5727	PTCH1	Basal cell carcinoma	HP:0002671
5727	PTCH1	Low-set ears	HP:0000369
5727	PTCH1	Skin tags	HP:0010609
5727	PTCH1	Palmar pits	HP:0010610
5727	PTCH1	Plantar pits	HP:0010612
5727	PTCH1	Orbital cyst	HP:0001144
5727	PTCH1	Cardiac fibroma	HP:0010617
5727	PTCH1	Hemivertebrae	HP:0002937
5727	PTCH1	Ovarian fibroma	HP:0010618
5727	PTCH1	Short nose	HP:0003196
5727	PTCH1	Bifid ribs	HP:0000892
5727	PTCH1	EMG: myopathic abnormalities	HP:0003458
5727	PTCH1	Vertebral fusion	HP:0002948
5727	PTCH1	Brachydactyly	HP:0001156
5727	PTCH1	Arachnodactyly	HP:0001166
5727	PTCH1	Sprengel anomaly	HP:0000912
5727	PTCH1	Macrotia	HP:0000400
5727	PTCH1	Heterogeneous	HP:0001425
5727	PTCH1	Midnasal stenosis	HP:0010644
5727	PTCH1	Absent nasal septal cartilage	HP:0005273
5727	PTCH1	Flat nasal alae	HP:0010649
5727	PTCH1	Hypoplasia of the premaxilla	HP:0010650
5727	PTCH1	Carious teeth	HP:0000670
5727	PTCH1	Narrow mouth	HP:0000160
5727	PTCH1	Thickened ears	HP:0009894
5727	PTCH1	Fusion of the left and right thalami	HP:0010664
5727	PTCH1	Single median maxillary incisor	HP:0006315
5727	PTCH1	Delayed eruption of teeth	HP:0000684
5727	PTCH1	Cleft palate	HP:0000175
5727	PTCH1	Wide nasal bridge	HP:0000431
5727	PTCH1	Short distal phalanx of the thumb	HP:0009650
5727	PTCH1	Depressed nasal tip	HP:0000437
5727	PTCH1	Supernumerary ribs	HP:0005815
5727	PTCH1	Irregular ossification of hand bones	HP:0004280
5727	PTCH1	Bilateral cleft lip and palate	HP:0002744
5727	PTCH1	Cyclopia	HP:0009914
5727	PTCH1	Hamartomatous stomach polyps	HP:0004795
5727	PTCH1	Narrow nasal bridge	HP:0000446
5727	PTCH1	Kyphoscoliosis	HP:0002751
5727	PTCH1	Feeding difficulties	HP:0011968
5727	PTCH1	Choanal atresia	HP:0000453
5727	PTCH1	Duodenal atresia	HP:0002247
5727	PTCH1	Oral cleft	HP:0000202
5727	PTCH1	Polydactyly	HP:0010442
5727	PTCH1	Semilobar holoprosencephaly	HP:0002507
5727	PTCH1	Cleft upper lip	HP:0000204
5727	PTCH1	Anteverted nares	HP:0000463
5727	PTCH1	Abnormality of the neck	HP:0000464
5727	PTCH1	Bilateral microphthalmos	HP:0007633
5727	PTCH1	Cerebral calcification	HP:0002514
5727	PTCH1	Short neck	HP:0000470
5727	PTCH1	Frontal bossing	HP:0002007
5727	PTCH1	Intellectual disability	HP:0001249
5727	PTCH1	Seizures	HP:0001250
5727	PTCH1	Short stature	HP:0004322
5727	PTCH1	Melanocytic nevus	HP:0000995
5727	PTCH1	Muscular hypotonia	HP:0001252
5727	PTCH1	Strabismus	HP:0000486
5727	PTCH1	Ovarian carcinoma	HP:0025318
5727	PTCH1	Vertebral wedging	HP:0008422
5727	PTCH1	Intrauterine growth retardation	HP:0001511
5727	PTCH1	Retinopathy	HP:0000488
5727	PTCH1	Hydrocephalus	HP:0000238
5727	PTCH1	Downslanted palpebral fissures	HP:0000494
5727	PTCH1	Global developmental delay	HP:0001263
5727	PTCH1	Accelerated skeletal maturation	HP:0005616
5727	PTCH1	Hyperactivity	HP:0000752
5727	PTCH1	Large for gestational age	HP:0001520
5727	PTCH1	Parietal bossing	HP:0000242
5727	PTCH1	Trigonocephaly	HP:0000243
5727	PTCH1	Variable expressivity	HP:0003828
5727	PTCH1	Glaucoma	HP:0000501
5727	PTCH1	Incomplete penetrance	HP:0003829
5727	PTCH1	Motor delay	HP:0001270
5727	PTCH1	Kyphosis	HP:0002808
5727	PTCH1	Brachycephaly	HP:0000248
5727	PTCH1	Agenesis of corpus callosum	HP:0001274
5727	PTCH1	Telecanthus	HP:0000506
5727	PTCH1	Microcephaly	HP:0000252
5727	PTCH1	Abnormality of the sternum	HP:0000766
5727	PTCH1	Pectus excavatum	HP:0000767
5728	PTEN	Macrodactyly	HP:0004099
5728	PTEN	Hemangioma	HP:0001028
5728	PTEN	Autosomal dominant inheritance	HP:0000006
5728	PTEN	Cataract	HP:0000518
5728	PTEN	Subcutaneous lipoma	HP:0001031
5728	PTEN	Proptosis	HP:0000520
5728	PTEN	Carcinoma	HP:0030731
5728	PTEN	Vascular skin abnormality	HP:0011276
5728	PTEN	Asymmetry of the thorax	HP:0001555
5728	PTEN	Abnormality of retinal pigmentation	HP:0007703
5728	PTEN	Cavernous hemangioma	HP:0001048
5728	PTEN	Hypopigmented skin patches	HP:0001053
5728	PTEN	Retinal detachment	HP:0000541
5728	PTEN	Uterine neoplasm	HP:0010784
5728	PTEN	Intention tremor	HP:0002080
5728	PTEN	Myopia	HP:0000545
5728	PTEN	Hydrocele testis	HP:0000034
5728	PTEN	Testicular neoplasm	HP:0010788
5728	PTEN	Abnormality of the penis	HP:0000036
5728	PTEN	Abnormality of the vasculature	HP:0002597
5728	PTEN	Hemimegalencephaly	HP:0007206
5728	PTEN	Long penis	HP:0000040
5728	PTEN	Broad thumb	HP:0011304
5728	PTEN	Trichilemmoma	HP:0012844
5728	PTEN	Buphthalmos	HP:0000557
5728	PTEN	Macroorchidism	HP:0000053
5728	PTEN	Abnormal lung lobation	HP:0002101
5728	PTEN	Chorioretinal coloboma	HP:0000567
5728	PTEN	Open bite	HP:0010807
5728	PTEN	Joint hyperflexibility	HP:0005692
5728	PTEN	Abnormality of the nail	HP:0001597
5728	PTEN	Epidermal nevus	HP:0010816
5728	PTEN	Varicocele	HP:0012871
5728	PTEN	Follicular thyroid carcinoma	HP:0006731
5728	PTEN	Abnormality of the optic nerve	HP:0000587
5728	PTEN	Reduced number of teeth	HP:0009804
5728	PTEN	Heterochromia iridis	HP:0001100
5728	PTEN	Polymicrogyria	HP:0002126
5728	PTEN	Angioid streaks of the fundus	HP:0001102
5728	PTEN	Transitional cell carcinoma of the bladder	HP:0006740
5728	PTEN	Scoliosis	HP:0002650
5728	PTEN	Skeletal dysplasia	HP:0002652
5728	PTEN	Tall stature	HP:0000098
5728	PTEN	Congestive heart failure	HP:0001635
5728	PTEN	Abnormal pupil morphology	HP:0000615
5728	PTEN	Lymphoma	HP:0002665
5728	PTEN	Renal cyst	HP:0000107
5728	PTEN	Sudden cardiac death	HP:0001645
5728	PTEN	Clinodactyly of the 5th finger	HP:0004209
5728	PTEN	Limbal dermoid	HP:0001140
5728	PTEN	Neurological speech impairment	HP:0002167
5728	PTEN	Narrow internal auditory canal	HP:0011386
5728	PTEN	Intracranial hemorrhage	HP:0002170
5728	PTEN	Short nose	HP:0003196
5728	PTEN	Myopathy	HP:0003198
5728	PTEN	Decreased muscle mass	HP:0003199
5728	PTEN	Skeletal muscle atrophy	HP:0003202
5728	PTEN	Myofibrillar myopathy	HP:0003715
5728	PTEN	Brachydactyly	HP:0001156
5728	PTEN	Hand polydactyly	HP:0001161
5728	PTEN	Central heterochromia	HP:0007818
5728	PTEN	Ovarian cyst	HP:0000138
5728	PTEN	Abnormality of the metacarpal bones	HP:0001163
5728	PTEN	Angina pectoris	HP:0001681
5728	PTEN	Delayed gross motor development	HP:0002194
5728	PTEN	Polycystic ovaries	HP:0000147
5728	PTEN	Pulmonary embolism	HP:0002204
5728	PTEN	Carious teeth	HP:0000670
5728	PTEN	Macroglossia	HP:0000158
5728	PTEN	Recurrent infections	HP:0002719
5728	PTEN	Depressed nasal bridge	HP:0005280
5728	PTEN	Narrow mouth	HP:0000160
5728	PTEN	Neoplasm of the thymus	HP:0100521
5728	PTEN	Cranial nerve paralysis	HP:0006824
5728	PTEN	Abnormality of dental enamel	HP:0000682
5728	PTEN	Neoplasm of the breast	HP:0100013
5728	PTEN	Venous insufficiency	HP:0005293
5728	PTEN	Neoplasm of the lung	HP:0100526
5728	PTEN	Nevus	HP:0003764
5728	PTEN	Generalized hirsutism	HP:0002230
5728	PTEN	Capillary hemangioma	HP:0005306
5728	PTEN	Arteriovenous malformation	HP:0100026
5728	PTEN	Narrow palate	HP:0000189
5728	PTEN	Cognitive impairment	HP:0100543
5728	PTEN	Neoplasm of the thyroid gland	HP:0100031
5728	PTEN	Delayed skeletal maturation	HP:0002750
5728	PTEN	Recurrent fractures	HP:0002757
5728	PTEN	Primary peritoneal carcinoma	HP:0030406
5728	PTEN	Thick nasal alae	HP:0009928
5728	PTEN	Abnormal large intestine morphology	HP:0002250
5728	PTEN	Autism	HP:0000717
5728	PTEN	Colonic diverticula	HP:0002253
5728	PTEN	Lower limb asymmetry	HP:0100559
5728	PTEN	Splenomegaly	HP:0001744
5728	PTEN	Upper limb asymmetry	HP:0100560
5728	PTEN	Decreased antibody level in blood	HP:0004313
5728	PTEN	High palate	HP:0000218
5728	PTEN	Retinal nonattachment	HP:0007899
5728	PTEN	Furrowed tongue	HP:0000221
5728	PTEN	Excessive wrinkled skin	HP:0007392
5728	PTEN	Intellectual disability	HP:0001249
5728	PTEN	Seizures	HP:0001250
5728	PTEN	Short stature	HP:0004322
5728	PTEN	Mucosal telangiectasiae	HP:0100579
5728	PTEN	Ataxia	HP:0001251
5728	PTEN	Muscular hypotonia	HP:0001252
5728	PTEN	Cachexia	HP:0004326
5728	PTEN	Ovarian carcinoma	HP:0025318
5728	PTEN	Irregular hyperpigmentation	HP:0007400
5728	PTEN	Intellectual disability, mild	HP:0001256
5728	PTEN	Gray matter heterotopia	HP:0002282
5728	PTEN	Hydrocephalus	HP:0000238
5728	PTEN	Global developmental delay	HP:0001263
5728	PTEN	Abnormal form of the vertebral bodies	HP:0003312
5728	PTEN	Kyphosis	HP:0002808
5728	PTEN	Reduced bone mineral density	HP:0004349
5728	PTEN	Cellular immunodeficiency	HP:0005374
5728	PTEN	Pectus excavatum	HP:0000767
5728	PTEN	Lipoma	HP:0012032
5728	PTEN	Macrocephaly	HP:0000256
5728	PTEN	Genu recurvatum	HP:0002816
5728	PTEN	Sirenomelia	HP:0010497
5728	PTEN	Gynecomastia	HP:0000771
5728	PTEN	Ovarian neoplasm	HP:0100615
5728	PTEN	Hip dislocation	HP:0002827
5728	PTEN	Headache	HP:0002315
5728	PTEN	Dolichocephaly	HP:0000268
5728	PTEN	Metatarsus valgus	HP:0010508
5728	PTEN	Generalized hyperpigmentation	HP:0007440
5728	PTEN	Abnormality of the fallopian tube	HP:0011027
5728	PTEN	Thymus hyperplasia	HP:0010516
5728	PTEN	Long face	HP:0000276
5728	PTEN	Hemiplegia/hemiparesis	HP:0004374
5728	PTEN	Hallux valgus	HP:0001822
5728	PTEN	Bone cyst	HP:0012062
5728	PTEN	Neoplasm of the adrenal cortex	HP:0100641
5728	PTEN	Abnormal cerebellum morphology	HP:0001317
5728	PTEN	Hamartomatous polyposis	HP:0004390
5728	PTEN	Thyroiditis	HP:0100646
5728	PTEN	Meningioma	HP:0002858
5728	PTEN	Melanoma	HP:0002861
5728	PTEN	Dysplastic gangliocytoma of the cerebellum	HP:0500009
5728	PTEN	Mandibular prognathia	HP:0000303
5728	PTEN	Enlarged cerebellum	HP:0012081
5728	PTEN	Hypothyroidism	HP:0000821
5728	PTEN	Communicating hydrocephalus	HP:0001334
5728	PTEN	Round face	HP:0000311
5728	PTEN	Hypertelorism	HP:0000316
5728	PTEN	Abnormality of the parathyroid gland	HP:0000828
5728	PTEN	Abdominal wall muscle weakness	HP:0009023
5728	PTEN	Thrombophlebitis	HP:0004418
5728	PTEN	Arterial thrombosis	HP:0004420
5728	PTEN	Facial asymmetry	HP:0000324
5728	PTEN	Hyperthyroidism	HP:0000836
5728	PTEN	Biparietal narrowing	HP:0004422
5728	PTEN	Hypoplasia of the maxilla	HP:0000327
5728	PTEN	Thyroid carcinoma	HP:0002890
5728	PTEN	Intestinal polyposis	HP:0200008
5728	PTEN	Neoplasm of the pancreas	HP:0002894
5728	PTEN	Aortic aneurysm	HP:0004942
5728	PTEN	Broad forehead	HP:0000337
5728	PTEN	Endometrial carcinoma	HP:0012114
5728	PTEN	Craniosynostosis	HP:0001363
5728	PTEN	Acrokeratosis	HP:0200016
5728	PTEN	Goiter	HP:0000853
5728	PTEN	Thyroid adenoma	HP:0000854
5728	PTEN	Long philtrum	HP:0000343
5728	PTEN	Talipes	HP:0001883
5728	PTEN	Micrognathia	HP:0000347
5728	PTEN	Prostate cancer	HP:0012125
5728	PTEN	Lymphopenia	HP:0001888
5728	PTEN	Papule	HP:0200034
5728	PTEN	Hashimoto thyroiditis	HP:0000872
5728	PTEN	Diabetes insipidus	HP:0000873
5728	PTEN	Joint stiffness	HP:0001387
5728	PTEN	Hearing impairment	HP:0000365
5728	PTEN	Low-set ears	HP:0000369
5728	PTEN	Skin tags	HP:0010609
5728	PTEN	Postnatal macrocephaly	HP:0005490
5728	PTEN	Retinal hamartoma	HP:0009594
5728	PTEN	Bronchogenic cyst	HP:0100730
5728	PTEN	Fibroadenoma of the breast	HP:0010619
5728	PTEN	Colorectal polyposis	HP:0200063
5728	PTEN	Abnormal subcutaneous fat tissue distribution	HP:0007552
5728	PTEN	Progressive macrocephaly	HP:0004481
5728	PTEN	Calvarial hyperostosis	HP:0004490
5728	PTEN	Multiple cafe-au-lait spots	HP:0007565
5728	PTEN	Subcutaneous hemorrhage	HP:0001933
5728	PTEN	Macrotia	HP:0000400
5728	PTEN	Somatic mutation	HP:0001428
5728	PTEN	Hypoglycemia	HP:0001943
5728	PTEN	Visceral angiomatosis	HP:0100761
5728	PTEN	Lymphangioma	HP:0100764
5728	PTEN	Hyperostosis	HP:0100774
5728	PTEN	Exostoses	HP:0100777
5728	PTEN	Conjunctival hamartoma	HP:0100780
5728	PTEN	Breast carcinoma	HP:0003002
5728	PTEN	Macule	HP:0012733
5728	PTEN	Wide nose	HP:0000445
5728	PTEN	Papilloma	HP:0012740
5728	PTEN	Cutis marmorata	HP:0000965
5728	PTEN	Subcutaneous nodule	HP:0001482
5728	PTEN	Abnormality of the wrist	HP:0003019
5728	PTEN	Palmoplantar hyperkeratosis	HP:0000972
5728	PTEN	Anteverted nares	HP:0000463
5728	PTEN	Abnormality of the neck	HP:0000464
5728	PTEN	Renal cell carcinoma	HP:0005584
5728	PTEN	Increased intracranial pressure	HP:0002516
5728	PTEN	Finger syndactyly	HP:0006101
5728	PTEN	Palmoplantar keratoderma	HP:0000982
5728	PTEN	Frontal bossing	HP:0002007
5728	PTEN	Generalized hyperkeratosis	HP:0005595
5728	PTEN	Nausea and vomiting	HP:0002017
5728	PTEN	Melanocytic nevus	HP:0000995
5728	PTEN	Enlarged polycystic ovaries	HP:0008675
5728	PTEN	Failure to thrive	HP:0001508
5728	PTEN	Strabismus	HP:0000486
5728	PTEN	Obesity	HP:0001513
5728	PTEN	Lymphedema	HP:0001004
5728	PTEN	Downslanted palpebral fissures	HP:0000494
5728	PTEN	Disproportionate tall stature	HP:0001519
5728	PTEN	Telangiectasia	HP:0001009
5728	PTEN	Adenoma sebaceum	HP:0009720
5728	PTEN	Shagreen patch	HP:0009721
5728	PTEN	Ptosis	HP:0000508
5728	PTEN	Adult onset	HP:0003581
54880	BCOR	Joint contracture of the hand	HP:0009473
54880	BCOR	Umbilical hernia	HP:0001537
54880	BCOR	Narrow chest	HP:0000774
54880	BCOR	Cataract	HP:0000518
54880	BCOR	Intestinal malrotation	HP:0002566
54880	BCOR	Developmental cataract	HP:0000519
54880	BCOR	Spastic paraparesis	HP:0002313
54880	BCOR	Generalized hypotonia	HP:0001290
54880	BCOR	Anophthalmia	HP:0000528
54880	BCOR	Narrow face	HP:0000275
54880	BCOR	Long face	HP:0000276
54880	BCOR	Ankyloblepharon	HP:0009755
54880	BCOR	Cryptorchidism	HP:0000028
54880	BCOR	Retinal detachment	HP:0000541
54880	BCOR	Hypoplasia of the corpus callosum	HP:0002079
54880	BCOR	Remnants of the hyaloid vascular system	HP:0007968
54880	BCOR	Ciliary body coloboma	HP:0020006
54880	BCOR	Pulmonary hypoplasia	HP:0002089
54880	BCOR	Genu valgum	HP:0002857
54880	BCOR	Hypospadias	HP:0000047
54880	BCOR	Short thumb	HP:0009778
54880	BCOR	Hypothyroidism	HP:0000821
54880	BCOR	Laterally curved eyebrow	HP:0007733
54880	BCOR	Chorioretinal coloboma	HP:0000567
54880	BCOR	Microphthalmia	HP:0000568
54880	BCOR	Ectopia lentis	HP:0001083
54880	BCOR	Visual loss	HP:0000572
54880	BCOR	Increased number of teeth	HP:0011069
54880	BCOR	Thick eyebrow	HP:0000574
54880	BCOR	Exotropia	HP:0000577
54880	BCOR	Blepharophimosis	HP:0000581
54880	BCOR	Hydroureter	HP:0000072
54880	BCOR	Optic nerve coloboma	HP:0000588
54880	BCOR	Adrenal insufficiency	HP:0000846
54880	BCOR	Fused teeth	HP:0011090
54880	BCOR	Abnormality of dental morphology	HP:0006482
54880	BCOR	2-3 toe syndactyly	HP:0004691
54880	BCOR	Down-sloping shoulders	HP:0200021
54880	BCOR	Long philtrum	HP:0000343
54880	BCOR	Flexion contracture of the 2nd toe	HP:0010327
54880	BCOR	Renal hypoplasia	HP:0000089
54880	BCOR	Scoliosis	HP:0002650
54880	BCOR	Flexion contracture	HP:0001371
54880	BCOR	Ventricular septal defect	HP:0001629
54880	BCOR	Atrial septal defect	HP:0001631
54880	BCOR	Camptodactyly	HP:0012385
54880	BCOR	Mitral valve prolapse	HP:0001634
54880	BCOR	Flexion contracture of the 4th toe	HP:0010339
54880	BCOR	Iris coloboma	HP:0000612
54880	BCOR	Posteriorly rotated ears	HP:0000358
54880	BCOR	Peripheral pulmonary artery stenosis	HP:0004969
54880	BCOR	Blindness	HP:0000618
54880	BCOR	Pulmonic stenosis	HP:0001642
54880	BCOR	Patent ductus arteriosus	HP:0001643
54880	BCOR	Hearing impairment	HP:0000365
54880	BCOR	Self-injurious behavior	HP:0100716
54880	BCOR	Bicuspid aortic valve	HP:0001647
54880	BCOR	Low-set, posteriorly rotated ears	HP:0000368
54880	BCOR	Low-set ears	HP:0000369
54880	BCOR	Clinodactyly of the 5th finger	HP:0004209
54880	BCOR	Aortic valve stenosis	HP:0001650
54880	BCOR	Dextrocardia	HP:0001651
54880	BCOR	Neurological speech impairment	HP:0002167
54880	BCOR	Abnormality of the clavicle	HP:0000889
54880	BCOR	Lumbar hyperlordosis	HP:0002938
54880	BCOR	External ear malformation	HP:0008572
54880	BCOR	Short clavicles	HP:0000894
54880	BCOR	Hydronephrosis	HP:0000126
54880	BCOR	Nystagmus	HP:0000639
54880	BCOR	Preauricular skin tag	HP:0000384
54880	BCOR	Septate vagina	HP:0001153
54880	BCOR	Clinodactyly	HP:0030084
54880	BCOR	Syndactyly	HP:0001159
54880	BCOR	Abnormal cardiac septum morphology	HP:0001671
54880	BCOR	X-linked inheritance	HP:0001417
54880	BCOR	Camptodactyly of finger	HP:0100490
54880	BCOR	Overfolded helix	HP:0000396
54880	BCOR	X-linked dominant inheritance	HP:0001423
54880	BCOR	Anteverted ears	HP:0040080
54880	BCOR	High, narrow palate	HP:0002705
54880	BCOR	Broad palm	HP:0001169
54880	BCOR	Recurrent otitis media	HP:0000403
54880	BCOR	Sensorineural hearing impairment	HP:0000407
54880	BCOR	Cubitus valgus	HP:0002967
54880	BCOR	Phthisis bulbi	HP:0000667
54880	BCOR	Radioulnar synostosis	HP:0002974
54880	BCOR	Hand clenching	HP:0001188
54880	BCOR	Oligodontia	HP:0000677
54880	BCOR	Dental crowding	HP:0000678
54880	BCOR	Feeding difficulties in infancy	HP:0008872
54880	BCOR	Prominent nasal bridge	HP:0000426
54880	BCOR	Single median maxillary incisor	HP:0006315
54880	BCOR	Delayed eruption of teeth	HP:0000684
54880	BCOR	Submucous cleft hard palate	HP:0000176
54880	BCOR	Dental malocclusion	HP:0000689
54880	BCOR	Agenesis of maxillary lateral incisor	HP:0000690
54880	BCOR	Misalignment of teeth	HP:0000692
54880	BCOR	Double outlet right ventricle	HP:0001719
54880	BCOR	Kyphoscoliosis	HP:0002751
54880	BCOR	Persistence of primary teeth	HP:0006335
54880	BCOR	Bifid uvula	HP:0000193
54880	BCOR	Broad nasal tip	HP:0000455
54880	BCOR	Bifid nasal tip	HP:0000456
54880	BCOR	Oral cleft	HP:0000202
54880	BCOR	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
54880	BCOR	Aganglionic megacolon	HP:0002251
54880	BCOR	Cleft upper lip	HP:0000204
54880	BCOR	Aggressive behavior	HP:0000718
54880	BCOR	Webbed neck	HP:0000465
54880	BCOR	Long thorax	HP:0100818
54880	BCOR	Finger syndactyly	HP:0006101
54880	BCOR	Complete duplication of thumb phalanx	HP:0009943
54880	BCOR	Abnormality of cardiovascular system morphology	HP:0030680
54880	BCOR	Autistic behavior	HP:0000729
54880	BCOR	Intellectual disability	HP:0001249
54880	BCOR	Seizures	HP:0001250
54880	BCOR	Microcornea	HP:0000482
54880	BCOR	Short stature	HP:0004322
54880	BCOR	Asymmetry of the ears	HP:0010722
54880	BCOR	Talipes equinovarus	HP:0001762
54880	BCOR	Abnormality of the shoulder	HP:0003043
54880	BCOR	Pyloric stenosis	HP:0002021
54880	BCOR	Hammertoe	HP:0001765
54880	BCOR	Decreased body weight	HP:0004325
54880	BCOR	Self-mutilation	HP:0000742
54880	BCOR	Growth delay	HP:0001510
54880	BCOR	Renal hypoplasia/aplasia	HP:0008678
54880	BCOR	Anal atresia	HP:0002023
54880	BCOR	Intellectual disability, mild	HP:0001256
54880	BCOR	Hyperlordosis	HP:0003307
54880	BCOR	Global developmental delay	HP:0001263
54880	BCOR	Spastic diplegia	HP:0001264
54880	BCOR	Rectal prolapse	HP:0002035
54880	BCOR	Glaucoma	HP:0000501
54880	BCOR	Motor delay	HP:0001270
54880	BCOR	Kyphosis	HP:0002808
54880	BCOR	Visual impairment	HP:0000505
54880	BCOR	Highly arched eyebrow	HP:0002553
54880	BCOR	Abnormal palmar dermatoglyphics	HP:0001018
54880	BCOR	Radial deviation of finger	HP:0009466
54880	BCOR	Ptosis	HP:0000508
54880	BCOR	Microcephaly	HP:0000252
54880	BCOR	Pectus excavatum	HP:0000767
54888	NSUN2	Wide anterior fontanel	HP:0000260
54888	NSUN2	Cataract	HP:0000518
54888	NSUN2	Autosomal recessive inheritance	HP:0000007
54888	NSUN2	Hypoplastic toenails	HP:0001800
54888	NSUN2	Abnormality of the antihelix	HP:0009738
54888	NSUN2	Delayed cranial suture closure	HP:0000270
54888	NSUN2	Narrow face	HP:0000275
54888	NSUN2	Long face	HP:0000276
54888	NSUN2	Cryptorchidism	HP:0000028
54888	NSUN2	Epicanthus	HP:0000286
54888	NSUN2	Myopia	HP:0000545
54888	NSUN2	Low anterior hairline	HP:0000294
54888	NSUN2	Broad thumb	HP:0011304
54888	NSUN2	Respiratory insufficiency	HP:0002093
54888	NSUN2	Hypospadias	HP:0000047
54888	NSUN2	Metatarsus adductus	HP:0001840
54888	NSUN2	Asthma	HP:0002099
54888	NSUN2	Abnormality of female external genitalia	HP:0000055
54888	NSUN2	Sandal gap	HP:0001852
54888	NSUN2	Hypertelorism	HP:0000316
54888	NSUN2	Joint hyperflexibility	HP:0005692
54888	NSUN2	Hypoparathyroidism	HP:0000829
54888	NSUN2	Thick eyebrow	HP:0000574
54888	NSUN2	Smooth philtrum	HP:0000319
54888	NSUN2	Acute lymphoblastic leukemia	HP:0006721
54888	NSUN2	Short philtrum	HP:0000322
54888	NSUN2	Hyperreflexia	HP:0001347
54888	NSUN2	Blepharophimosis	HP:0000581
54888	NSUN2	Short chin	HP:0000331
54888	NSUN2	Thrombocytopenia	HP:0001873
54888	NSUN2	Abnormality of neutrophils	HP:0001874
54888	NSUN2	Craniosynostosis	HP:0001363
54888	NSUN2	Sloping forehead	HP:0000340
54888	NSUN2	Hypotelorism	HP:0000601
54888	NSUN2	Scoliosis	HP:0002650
54888	NSUN2	Micrognathia	HP:0000347
54888	NSUN2	Lymphoma	HP:0002665
54888	NSUN2	Attention deficit hyperactivity disorder	HP:0007018
54888	NSUN2	Hearing impairment	HP:0000365
54888	NSUN2	Anemia	HP:0001903
54888	NSUN2	Low-set, posteriorly rotated ears	HP:0000368
54888	NSUN2	Clinodactyly of the 5th finger	HP:0004209
54888	NSUN2	Small hand	HP:0200055
54888	NSUN2	Hydronephrosis	HP:0000126
54888	NSUN2	Nystagmus	HP:0000639
54888	NSUN2	Aplasia/Hypoplasia of the thumb	HP:0009601
54888	NSUN2	Brachydactyly	HP:0001156
54888	NSUN2	Sparse hair	HP:0008070
54888	NSUN2	Synophrys	HP:0000664
54888	NSUN2	Wide mouth	HP:0000154
54888	NSUN2	Protruding ear	HP:0000411
54888	NSUN2	Recurrent infections	HP:0002719
54888	NSUN2	Depressed nasal bridge	HP:0005280
54888	NSUN2	Sparse scalp hair	HP:0002209
54888	NSUN2	Underdeveloped supraorbital ridges	HP:0009891
54888	NSUN2	Elevated serum creatine kinase	HP:0003236
54888	NSUN2	Fine hair	HP:0002213
54888	NSUN2	Prominent nasal bridge	HP:0000426
54888	NSUN2	Delayed eruption of teeth	HP:0000684
54888	NSUN2	Underdeveloped nasal alae	HP:0000430
54888	NSUN2	Wide nasal bridge	HP:0000431
54888	NSUN2	Submucous cleft hard palate	HP:0000176
54888	NSUN2	Dry skin	HP:0000958
54888	NSUN2	Delayed skeletal maturation	HP:0002750
54888	NSUN2	Sacral dimple	HP:0000960
54888	NSUN2	Prominent nose	HP:0000448
54888	NSUN2	Postnatal growth retardation	HP:0008897
54888	NSUN2	Eczema	HP:0000964
54888	NSUN2	Cutis marmorata	HP:0000965
54888	NSUN2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
54888	NSUN2	Abnormal fingernail morphology	HP:0001231
54888	NSUN2	Thick upper lip vermilion	HP:0000215
54888	NSUN2	Abnormality of cardiovascular system morphology	HP:0030680
54888	NSUN2	Sparse lateral eyebrow	HP:0005338
54888	NSUN2	High palate	HP:0000218
54888	NSUN2	Cutaneous photosensitivity	HP:0000992
54888	NSUN2	Intellectual disability	HP:0001249
54888	NSUN2	Pes cavus	HP:0001761
54888	NSUN2	Seizures	HP:0001250
54888	NSUN2	Short stature	HP:0004322
54888	NSUN2	Spina bifida occulta	HP:0003298
54888	NSUN2	Strabismus	HP:0000486
54888	NSUN2	Intrauterine growth retardation	HP:0001511
54888	NSUN2	Malabsorption	HP:0002024
54888	NSUN2	Abnormality of skin pigmentation	HP:0001000
54888	NSUN2	Muscular hypotonia of the trunk	HP:0008936
54888	NSUN2	Anal stenosis	HP:0002025
54888	NSUN2	Spasticity	HP:0001257
54888	NSUN2	Toe syndactyly	HP:0001770
54888	NSUN2	Achilles tendon contracture	HP:0001771
54888	NSUN2	Chronic diarrhea	HP:0002028
54888	NSUN2	Dysarthria	HP:0001260
54888	NSUN2	Short foot	HP:0001773
54888	NSUN2	Hydrocephalus	HP:0000238
54888	NSUN2	Small for gestational age	HP:0001518
54888	NSUN2	Delayed speech and language development	HP:0000750
54888	NSUN2	Global developmental delay	HP:0001263
54888	NSUN2	Rectal prolapse	HP:0002035
54888	NSUN2	Telecanthus	HP:0000506
54888	NSUN2	Ptosis	HP:0000508
54888	NSUN2	Microcephaly	HP:0000252
54888	NSUN2	Pectus excavatum	HP:0000767
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
5741	PTH	Tetany	HP:0001281
5741	PTH	Seizures	HP:0001250
5741	PTH	Cerebral calcification	HP:0002514
5741	PTH	Hypocalcemia	HP:0002901
5741	PTH	Autosomal dominant inheritance	HP:0000006
5741	PTH	Cataract	HP:0000518
5741	PTH	Decreased circulating parathyroid hormone level	HP:0031817
5741	PTH	Hyperphosphatemia	HP:0002905
5741	PTH	Hypoparathyroidism	HP:0000829
54894	RNF43	Pancreatic adenocarcinoma	HP:0006725
54894	RNF43	Autosomal dominant inheritance	HP:0000006
54894	RNF43	Ovarian neoplasm	HP:0100615
54894	RNF43	Schwannoma	HP:0100008
54894	RNF43	Gastric diverticulum	HP:0100808
54894	RNF43	Adenomatous colonic polyposis	HP:0005227
54894	RNF43	Melanoma	HP:0002861
54894	RNF43	Bladder carcinoma	HP:0002862
54894	RNF43	Germ cell neoplasia	HP:0100728
54894	RNF43	Breast carcinoma	HP:0003002
54894	RNF43	Colorectal polyposis	HP:0200063
54894	RNF43	Prostate cancer	HP:0012125
54894	RNF43	Hodgkin lymphoma	HP:0012189
54894	RNF43	Serrated intestinal polyps	HP:0032222
54894	RNF43	Biliary tract neoplasm	HP:0100574
5744	PTHLH	Macrocephaly	HP:0000256
5744	PTHLH	Short metacarpal	HP:0010049
5744	PTHLH	Short stature	HP:0004322
5744	PTHLH	Brachydactyly	HP:0001156
5744	PTHLH	Oligodontia	HP:0000677
5744	PTHLH	Autosomal dominant inheritance	HP:0000006
5744	PTHLH	Type E brachydactyly	HP:0005863
5744	PTHLH	Delayed eruption of teeth	HP:0000684
5744	PTHLH	Upper limb asymmetry	HP:0100560
5744	PTHLH	Frontal bossing	HP:0002007
5744	PTHLH	Short metatarsal	HP:0010743
5744	PTHLH	Short distal phalanx of finger	HP:0009882
5744	PTHLH	Aplasia/Hypoplasia of the distal phalanx of the hallux	HP:0010076
5744	PTHLH	Joint hyperflexibility	HP:0005692
5745	PTH1R	Hypercalcemia	HP:0003072
5745	PTH1R	Distal shortening of limbs	HP:0006402
5745	PTH1R	Protuberant abdomen	HP:0001538
5745	PTH1R	Aplastic clavicle	HP:0006660
5745	PTH1R	Short ribs	HP:0000773
5745	PTH1R	Cataract	HP:0000518
5745	PTH1R	Narrow chest	HP:0000774
5745	PTH1R	Autosomal dominant inheritance	HP:0000006
5745	PTH1R	Autosomal recessive inheritance	HP:0000007
5745	PTH1R	Proptosis	HP:0000520
5745	PTH1R	Arthralgia	HP:0002829
5745	PTH1R	Malar flattening	HP:0000272
5745	PTH1R	Polyhydramnios	HP:0001561
5745	PTH1R	Hyperphosphaturia	HP:0003109
5745	PTH1R	Short toe	HP:0001831
5745	PTH1R	Pulmonary hypoplasia	HP:0002089
5745	PTH1R	Abnormality of epiphysis morphology	HP:0005930
5745	PTH1R	Laryngeal calcification	HP:0008754
5745	PTH1R	Protruding tongue	HP:0010808
5745	PTH1R	Precocious puberty	HP:0000826
5745	PTH1R	Hypertelorism	HP:0000316
5745	PTH1R	Hypoparathyroidism	HP:0000829
5745	PTH1R	Abnormal trabecular bone morphology	HP:0100671
5745	PTH1R	Absence of the sacrum	HP:0010305
5745	PTH1R	Short metacarpal	HP:0010049
5745	PTH1R	Short thorax	HP:0010306
5745	PTH1R	Prominent supraorbital arches in adult	HP:0004676
5745	PTH1R	Multiple enchondromatosis	HP:0005701
5745	PTH1R	Venous thrombosis	HP:0004936
5745	PTH1R	Short phalanx of finger	HP:0009803
5745	PTH1R	Elevated alkaline phosphatase	HP:0003155
5745	PTH1R	Lethal skeletal dysplasia	HP:0005716
5745	PTH1R	Premature birth	HP:0001622
5745	PTH1R	Long philtrum	HP:0000343
5745	PTH1R	Bowing of the long bones	HP:0006487
5745	PTH1R	Micrognathia	HP:0000347
5745	PTH1R	Skeletal dysplasia	HP:0002652
5745	PTH1R	Bone pain	HP:0002653
5745	PTH1R	Epiphyseal dysplasia	HP:0002656
5745	PTH1R	Limited hip movement	HP:0008800
5745	PTH1R	Abnormality of the acetabulum	HP:0003170
5745	PTH1R	Hypophosphatemia	HP:0002148
5745	PTH1R	Hypercalciuria	HP:0002150
5745	PTH1R	Delayed epiphyseal ossification	HP:0002663
5745	PTH1R	High iliac wings	HP:0008808
5745	PTH1R	Squared iliac bones	HP:0003177
5745	PTH1R	Skin ulcer	HP:0200042
5745	PTH1R	Joint stiffness	HP:0001387
5745	PTH1R	Hearing impairment	HP:0000365
5745	PTH1R	Chondrosarcoma	HP:0006765
5745	PTH1R	Anemia	HP:0001903
5745	PTH1R	Low-set ears	HP:0000369
5745	PTH1R	Clinodactyly of the 5th finger	HP:0004209
5745	PTH1R	Nephrocalcinosis	HP:0000121
5745	PTH1R	Short nose	HP:0003196
5745	PTH1R	Abnormality of coagulation	HP:0001928
5745	PTH1R	Advanced ossification of carpal bones	HP:0004233
5745	PTH1R	Coarctation of aorta	HP:0001680
5745	PTH1R	Broad palm	HP:0001169
5745	PTH1R	Synostosis of joints	HP:0100240
5745	PTH1R	Broad clavicles	HP:0000916
5745	PTH1R	Clubbing of fingers	HP:0100759
5745	PTH1R	Cubitus valgus	HP:0002967
5745	PTH1R	Visceral angiomatosis	HP:0100761
5745	PTH1R	Hypodontia	HP:0000668
5745	PTH1R	Generalized osteosclerosis	HP:0005789
5745	PTH1R	Lymphangioma	HP:0100764
5745	PTH1R	Platyspondyly	HP:0000926
5745	PTH1R	Depressed nasal bridge	HP:0005280
5745	PTH1R	Micromelia	HP:0002983
5745	PTH1R	Osteopenia	HP:0000938
5745	PTH1R	Advanced tarsal ossification	HP:0008108
5745	PTH1R	Abnormality of the metaphysis	HP:0000944
5745	PTH1R	Thick skull base	HP:0002737
5745	PTH1R	Misalignment of teeth	HP:0000692
5745	PTH1R	Severe short stature	HP:0003510
5745	PTH1R	Short palm	HP:0004279
5745	PTH1R	Natal tooth	HP:0000695
5745	PTH1R	Abnormal fingertip morphology	HP:0001211
5745	PTH1R	Persistence of primary teeth	HP:0006335
5745	PTH1R	Thin bony cortex	HP:0002753
5745	PTH1R	Pathologic fracture	HP:0002756
5745	PTH1R	Choanal stenosis	HP:0000452
5745	PTH1R	Choanal atresia	HP:0000453
5745	PTH1R	Flared metaphysis	HP:0003015
5745	PTH1R	Rhizomelia	HP:0008905
5745	PTH1R	Hip contracture	HP:0003273
5745	PTH1R	Subcutaneous nodule	HP:0001482
5745	PTH1R	Narrow pelvis bone	HP:0003275
5745	PTH1R	Metaphyseal cupping	HP:0003021
5745	PTH1R	Anteverted nares	HP:0000463
5745	PTH1R	Failure of eruption of permanent teeth	HP:0006352
5745	PTH1R	Metaphyseal irregularity	HP:0003025
5745	PTH1R	Short long bone	HP:0003026
5745	PTH1R	Mesomelia	HP:0003027
5745	PTH1R	Waddling gait	HP:0002515
5745	PTH1R	Neonatal short-limb short stature	HP:0008921
5745	PTH1R	Fibular hypoplasia	HP:0003038
5745	PTH1R	Short stature	HP:0004322
5745	PTH1R	Limited elbow flexion	HP:0006376
5745	PTH1R	Broad foot	HP:0001769
5745	PTH1R	Knee flexion contracture	HP:0006380
5745	PTH1R	Short foot	HP:0001773
5745	PTH1R	Osteolysis	HP:0002797
5745	PTH1R	Metaphyseal chondrodysplasia	HP:0005871
5745	PTH1R	Accelerated skeletal maturation	HP:0005616
5745	PTH1R	Stillbirth	HP:0003826
5745	PTH1R	Brachycephaly	HP:0000248
5745	PTH1R	Increased bone mineral density	HP:0011001
5745	PTH1R	Telecanthus	HP:0000506
5745	PTH1R	Hydrops fetalis	HP:0001789
153201	SLC36A2	Calcium oxalate nephrolithiasis	HP:0008672
153201	SLC36A2	Intellectual disability	HP:0001249
153201	SLC36A2	Prolinuria	HP:0003137
153201	SLC36A2	Hyperglycinuria	HP:0003108
153201	SLC36A2	Autosomal dominant inheritance	HP:0000006
153201	SLC36A2	Autosomal recessive inheritance	HP:0000007
153201	SLC36A2	Hydroxyprolinuria	HP:0003080
153201	SLC36A2	Abnormality of the eye	HP:0000478
54902	TTC19	Skeletal muscle atrophy	HP:0003202
54902	TTC19	Hyperreflexia	HP:0001347
54902	TTC19	Neurodegeneration	HP:0002180
54902	TTC19	Psychosis	HP:0000709
54902	TTC19	Autosomal recessive inheritance	HP:0000007
54902	TTC19	Incoordination	HP:0002311
54902	TTC19	Spastic paraparesis	HP:0002313
54902	TTC19	Apraxia	HP:0002186
54902	TTC19	Cerebral atrophy	HP:0002059
54902	TTC19	Depressivity	HP:0000716
54902	TTC19	Axonal degeneration	HP:0040078
54902	TTC19	Aggressive behavior	HP:0000718
54902	TTC19	Dysphonia	HP:0001618
54902	TTC19	Obsessive-compulsive behavior	HP:0000722
54902	TTC19	Bradykinesia	HP:0002067
54902	TTC19	Dysdiadochokinesis	HP:0002075
54902	TTC19	Dysmetria	HP:0001310
54902	TTC19	Babinski sign	HP:0003487
54902	TTC19	Hallucinations	HP:0000738
54902	TTC19	Anxiety	HP:0000739
54902	TTC19	Dysarthria	HP:0001260
54902	TTC19	Muscle weakness	HP:0001324
54902	TTC19	Hearing impairment	HP:0000365
54902	TTC19	Olivopontocerebellar atrophy	HP:0002542
54902	TTC19	Global developmental delay	HP:0001263
54902	TTC19	Dystonia	HP:0001332
54902	TTC19	Cerebellar atrophy	HP:0001272
54902	TTC19	Tremor	HP:0001337
54902	TTC19	Cognitive impairment	HP:0100543
54902	TTC19	Nystagmus	HP:0000639
54903	MKS1	Abnormal electroretinogram	HP:0000512
54903	MKS1	Multicystic kidney dysplasia	HP:0000003
54903	MKS1	Omphalocele	HP:0001539
54903	MKS1	Arnold-Chiari malformation	HP:0002308
54903	MKS1	Cataract	HP:0000518
54903	MKS1	Intestinal malrotation	HP:0002566
54903	MKS1	Autosomal recessive inheritance	HP:0000007
54903	MKS1	Gait disturbance	HP:0001288
54903	MKS1	Generalized hypotonia	HP:0001290
54903	MKS1	Anophthalmia	HP:0000528
54903	MKS1	Anencephaly	HP:0002323
54903	MKS1	Abnormal chorioretinal morphology	HP:0000532
54903	MKS1	Long face	HP:0000276
54903	MKS1	Hypoplasia of the ovary	HP:0008724
54903	MKS1	Dandy-Walker malformation	HP:0001305
54903	MKS1	Oligohydramnios	HP:0001562
54903	MKS1	Cryptorchidism	HP:0000028
54903	MKS1	Elevated amniotic fluid alpha-fetoprotein	HP:0004639
54903	MKS1	Hypoplasia of penis	HP:0008736
54903	MKS1	Ambiguous genitalia, male	HP:0000033
54903	MKS1	Encephalocele	HP:0002084
54903	MKS1	Male pseudohermaphroditism	HP:0000037
54903	MKS1	Full cheeks	HP:0000293
54903	MKS1	Foot polydactyly	HP:0001829
54903	MKS1	Occipital encephalocele	HP:0002085
54903	MKS1	Postaxial foot polydactyly	HP:0001830
54903	MKS1	Cerebellar vermis hypoplasia	HP:0001320
54903	MKS1	Pulmonary hypoplasia	HP:0002089
54903	MKS1	Cerebellar hypoplasia	HP:0001321
54903	MKS1	Retinal dystrophy	HP:0000556
54903	MKS1	Cystic liver disease	HP:0006706
54903	MKS1	Congenital hepatic fibrosis	HP:0002612
54903	MKS1	Hypertension	HP:0000822
54903	MKS1	Aplasia/Hypoplasia of the tongue	HP:0010295
54903	MKS1	Microphthalmia	HP:0000568
54903	MKS1	Apnea	HP:0002104
54903	MKS1	Dilatation	HP:0002617
54903	MKS1	Tremor	HP:0001337
54903	MKS1	Hypertelorism	HP:0000316
54903	MKS1	Visual loss	HP:0000572
54903	MKS1	Episodic tachypnea	HP:0002876
54903	MKS1	Olfactory lobe agenesis	HP:0001341
54903	MKS1	Ambiguous genitalia, female	HP:0000061
54903	MKS1	Abnormality of the larynx	HP:0001600
54903	MKS1	Adrenal hypoplasia	HP:0000835
54903	MKS1	Urethral atresia	HP:0000068
54903	MKS1	Pigmentary retinopathy	HP:0000580
54903	MKS1	Abnormality of the ureter	HP:0000069
54903	MKS1	Biparietal narrowing	HP:0004422
54903	MKS1	Ureteral duplication	HP:0000073
54903	MKS1	Polymicrogyria	HP:0002126
54903	MKS1	Sloping forehead	HP:0000340
54903	MKS1	Bowing of the long bones	HP:0006487
54903	MKS1	Breech presentation	HP:0001623
54903	MKS1	Hypotelorism	HP:0000601
54903	MKS1	Scoliosis	HP:0002650
54903	MKS1	Micrognathia	HP:0000347
54903	MKS1	Talipes	HP:0001883
54903	MKS1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
54903	MKS1	Iris coloboma	HP:0000612
54903	MKS1	Nephrotic syndrome	HP:0000100
54903	MKS1	Renal agenesis	HP:0000104
54903	MKS1	Patent ductus arteriosus	HP:0001643
54903	MKS1	Hearing impairment	HP:0000365
54903	MKS1	Low-set, posteriorly rotated ears	HP:0000368
54903	MKS1	Polycystic kidney dysplasia	HP:0000113
54903	MKS1	Low-set ears	HP:0000369
54903	MKS1	Molar tooth sign on MRI	HP:0002419
54903	MKS1	Dextrocardia	HP:0001651
54903	MKS1	Hepatic fibrosis	HP:0001395
54903	MKS1	Aplasia/Hypoplasia of the iris	HP:0008053
54903	MKS1	Neurological speech impairment	HP:0002167
54903	MKS1	Large placenta	HP:0006267
54903	MKS1	Pancreatic fibrosis	HP:0100732
54903	MKS1	Nystagmus	HP:0000639
54903	MKS1	Bile duct proliferation	HP:0001408
54903	MKS1	Abnormality of the uterus	HP:0000130
54903	MKS1	Skeletal muscle atrophy	HP:0003202
54903	MKS1	Clinodactyly	HP:0030084
54903	MKS1	Sclerocornea	HP:0000647
54903	MKS1	Abnormal cardiac septum morphology	HP:0001671
54903	MKS1	Syndactyly	HP:0001159
54903	MKS1	Hypogonadism	HP:0000135
54903	MKS1	Optic atrophy	HP:0000648
54903	MKS1	Hand polydactyly	HP:0001161
54903	MKS1	Postaxial hand polydactyly	HP:0001162
54903	MKS1	Abnormal vertebral morphology	HP:0003468
54903	MKS1	Coarctation of aorta	HP:0001680
54903	MKS1	Oculomotor apraxia	HP:0000657
54903	MKS1	Preaxial hand polydactyly	HP:0001177
54903	MKS1	Wide mouth	HP:0000154
54903	MKS1	Situs inversus totalis	HP:0001696
54903	MKS1	Feeding difficulties in infancy	HP:0008872
54903	MKS1	External genital hypoplasia	HP:0003241
54903	MKS1	Prominent nasal bridge	HP:0000426
54903	MKS1	Single umbilical artery	HP:0001195
54903	MKS1	Cleft palate	HP:0000175
54903	MKS1	Lobulated tongue	HP:0000180
54903	MKS1	Generalized hirsutism	HP:0002230
54903	MKS1	Natal tooth	HP:0000695
54903	MKS1	Feeding difficulties	HP:0011968
54903	MKS1	Pancreatic cysts	HP:0001737
54903	MKS1	Depressed nasal ridge	HP:0000457
54903	MKS1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
54903	MKS1	Oral cleft	HP:0000202
54903	MKS1	Polydactyly	HP:0010442
54903	MKS1	Aganglionic megacolon	HP:0002251
54903	MKS1	Cleft upper lip	HP:0000204
54903	MKS1	Anteverted nares	HP:0000463
54903	MKS1	Splenomegaly	HP:0001744
54903	MKS1	Webbed neck	HP:0000465
54903	MKS1	Asplenia	HP:0001746
54903	MKS1	Accessory spleen	HP:0001747
54903	MKS1	Finger syndactyly	HP:0006101
54903	MKS1	Lobar holoprosencephaly	HP:0006870
54903	MKS1	Short neck	HP:0000470
54903	MKS1	Cerebral hypoplasia	HP:0006872
54903	MKS1	True hermaphroditism	HP:0010459
54903	MKS1	Furrowed tongue	HP:0000221
54903	MKS1	Hypoplasia of the bladder	HP:0005343
54903	MKS1	Retinal coloboma	HP:0000480
54903	MKS1	Intellectual disability	HP:0001249
54903	MKS1	Microcornea	HP:0000482
54903	MKS1	Seizures	HP:0001250
54903	MKS1	Short stature	HP:0004322
54903	MKS1	Ataxia	HP:0001251
54903	MKS1	Muscular hypotonia	HP:0001252
54903	MKS1	Strabismus	HP:0000486
54903	MKS1	Anal atresia	HP:0002023
54903	MKS1	Intrauterine growth retardation	HP:0001511
54903	MKS1	Retinopathy	HP:0000488
54903	MKS1	Obesity	HP:0001513
54903	MKS1	Hydrocephalus	HP:0000238
54903	MKS1	Downslanted palpebral fissures	HP:0000494
54903	MKS1	Global developmental delay	HP:0001263
54903	MKS1	Abnormal form of the vertebral bodies	HP:0003312
54903	MKS1	Highly arched eyebrow	HP:0002553
54903	MKS1	Agenesis of corpus callosum	HP:0001274
54903	MKS1	Radial deviation of finger	HP:0009466
54903	MKS1	Medial flaring of the eyebrow	HP:0010747
54903	MKS1	Microcephaly	HP:0000252
54903	MKS1	Ptosis	HP:0000508
54903	MKS1	Rod-cone dystrophy	HP:0000510
128637	TBC1D20	Cataract	HP:0000518
128637	TBC1D20	Developmental cataract	HP:0000519
128637	TBC1D20	Autosomal recessive inheritance	HP:0000007
128637	TBC1D20	Optic atrophy	HP:0000648
128637	TBC1D20	Abnormality of visual evoked potentials	HP:0000649
128637	TBC1D20	Macrotia	HP:0000400
128637	TBC1D20	Severe postnatal growth retardation	HP:0008850
128637	TBC1D20	Pachygyria	HP:0001302
128637	TBC1D20	Abnormality of retinal pigmentation	HP:0007703
128637	TBC1D20	Cryptorchidism	HP:0000028
128637	TBC1D20	Decreased testicular size	HP:0008734
128637	TBC1D20	Hypoplasia of the corpus callosum	HP:0002079
128637	TBC1D20	Narrow mouth	HP:0000160
128637	TBC1D20	Hypoplasia of penis	HP:0008736
128637	TBC1D20	Low anterior hairline	HP:0000294
128637	TBC1D20	Cerebellar vermis hypoplasia	HP:0001320
128637	TBC1D20	Scrotal hypoplasia	HP:0000046
128637	TBC1D20	Wide nasal bridge	HP:0000431
128637	TBC1D20	Micropenis	HP:0000054
128637	TBC1D20	Generalized hirsutism	HP:0002230
128637	TBC1D20	Frontoparietal polymicrogyria	HP:0007095
128637	TBC1D20	Delayed puberty	HP:0000823
128637	TBC1D20	Microphthalmia	HP:0000568
128637	TBC1D20	Clitoral hypoplasia	HP:0000060
128637	TBC1D20	Abnormal localization of kidney	HP:0100542
128637	TBC1D20	Hypoplastic labia minora	HP:0000064
128637	TBC1D20	Short philtrum	HP:0000322
128637	TBC1D20	Cerebral cortical atrophy	HP:0002120
128637	TBC1D20	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
128637	TBC1D20	Spastic tetraplegia	HP:0002510
128637	TBC1D20	Anteverted nares	HP:0000463
128637	TBC1D20	Scoliosis	HP:0002650
128637	TBC1D20	High palate	HP:0000218
128637	TBC1D20	Flexion contracture	HP:0001371
128637	TBC1D20	Micrognathia	HP:0000347
128637	TBC1D20	Retinal coloboma	HP:0000480
128637	TBC1D20	Cerebral visual impairment	HP:0100704
128637	TBC1D20	Microcornea	HP:0000482
128637	TBC1D20	Seizures	HP:0001250
128637	TBC1D20	Short stature	HP:0004322
128637	TBC1D20	Muscular hypotonia	HP:0001252
128637	TBC1D20	Peripheral neuropathy	HP:0009830
128637	TBC1D20	Intrauterine growth retardation	HP:0001511
128637	TBC1D20	Spasticity	HP:0001257
128637	TBC1D20	Deeply set eye	HP:0000490
128637	TBC1D20	Joint stiffness	HP:0001387
128637	TBC1D20	Postnatal microcephaly	HP:0005484
128637	TBC1D20	Hirsutism	HP:0001007
128637	TBC1D20	Global developmental delay	HP:0001263
128637	TBC1D20	Intellectual disability, severe	HP:0010864
128637	TBC1D20	Low-set, posteriorly rotated ears	HP:0000368
128637	TBC1D20	Glaucoma	HP:0000501
128637	TBC1D20	Cerebellar atrophy	HP:0001272
128637	TBC1D20	Brachycephaly	HP:0000248
128637	TBC1D20	Kyphosis	HP:0002808
128637	TBC1D20	Ptosis	HP:0000508
128637	TBC1D20	Short nose	HP:0003196
128637	TBC1D20	Microcephaly	HP:0000252
128637	TBC1D20	Hydronephrosis	HP:0000126
128637	TBC1D20	Decreased muscle mass	HP:0003199
374393	FAM111B	Hepatomegaly	HP:0002240
374393	FAM111B	Skeletal muscle atrophy	HP:0003202
374393	FAM111B	Elevated serum creatine kinase	HP:0003236
374393	FAM111B	Poikiloderma	HP:0001029
374393	FAM111B	Cataract	HP:0000518
374393	FAM111B	Hypohidrosis	HP:0000966
374393	FAM111B	Autosomal dominant inheritance	HP:0000006
374393	FAM111B	Muscle weakness	HP:0001324
374393	FAM111B	Nail dysplasia	HP:0002164
374393	FAM111B	Delayed puberty	HP:0000823
374393	FAM111B	Scoliosis	HP:0002650
374393	FAM111B	Alopecia	HP:0001596
374393	FAM111B	Pulmonary fibrosis	HP:0002206
374393	FAM111B	Erysipelas	HP:0001055
374407	DNAJB13	Infertility	HP:0000789
374407	DNAJB13	Autosomal recessive inheritance	HP:0000007
374407	DNAJB13	Recurrent respiratory infections	HP:0002205
54916	TMEM260	Tetralogy of Fallot	HP:0001636
54916	TMEM260	Generalized edema	HP:0007430
54916	TMEM260	Autosomal recessive inheritance	HP:0000007
54916	TMEM260	Renal cyst	HP:0000107
54916	TMEM260	Tricuspid atresia	HP:0011662
54916	TMEM260	Renal insufficiency	HP:0000083
54916	TMEM260	Right aortic arch	HP:0012020
54916	TMEM260	Persistent left superior vena cava	HP:0005301
54916	TMEM260	Partial anomalous pulmonary venous return	HP:0010773
54916	TMEM260	Partial agenesis of the corpus callosum	HP:0001338
54916	TMEM260	Interrupted aortic arch	HP:0011611
54916	TMEM260	Truncus arteriosus	HP:0001660
54916	TMEM260	Microcephaly	HP:0000252
54916	TMEM260	Ventricular septal defect	HP:0001629
54916	TMEM260	Atrial septal defect	HP:0001631
54919	DNAAF5	Rhinitis	HP:0012384
54919	DNAAF5	Absent outer dynein arms	HP:0012256
54919	DNAAF5	Situs inversus totalis	HP:0001696
54919	DNAAF5	Recurrent sinusitis	HP:0011108
54919	DNAAF5	Abnormal ciliary motility	HP:0012262
54919	DNAAF5	Autosomal recessive inheritance	HP:0000007
54919	DNAAF5	Ciliary dyskinesia	HP:0012265
54919	DNAAF5	Infantile onset	HP:0003593
54919	DNAAF5	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
54919	DNAAF5	Nonmotile sperm	HP:0012208
54919	DNAAF5	Recurrent otitis media	HP:0000403
54919	DNAAF5	Male infertility	HP:0003251
54919	DNAAF5	Chronic bronchitis	HP:0004469
54919	DNAAF5	Recurrent respiratory infections	HP:0002205
5771	PTPN2	Limitation of joint mobility	HP:0001376
5771	PTPN2	Juvenile rheumatoid arthritis	HP:0005681
5771	PTPN2	Dental malocclusion	HP:0000689
5771	PTPN2	Polyarticular arthritis	HP:0005764
5771	PTPN2	Antinuclear antibody positivity	HP:0003493
5771	PTPN2	Iridocyclitis	HP:0001094
5771	PTPN2	Apraxia	HP:0002186
5771	PTPN2	Joint swelling	HP:0001386
5771	PTPN2	Elevated C-reactive protein level	HP:0011227
5771	PTPN2	Arthralgia	HP:0002829
5771	PTPN2	Elevated erythrocyte sedimentation rate	HP:0003565
5771	PTPN2	Joint dislocation	HP:0001373
341640	FREM2	Umbilical hernia	HP:0001537
341640	FREM2	Multicystic kidney dysplasia	HP:0000003
341640	FREM2	Omphalocele	HP:0001539
341640	FREM2	Midline nasal groove	HP:0004112
341640	FREM2	Anophthalmia	HP:0000528
341640	FREM2	Vaginal atresia	HP:0000148
341640	FREM2	Conductive hearing impairment	HP:0000405
341640	FREM2	Cryptorchidism	HP:0000028
341640	FREM2	Atresia of the external auditory canal	HP:0000413
341640	FREM2	Hypoplasia of penis	HP:0008736
341640	FREM2	Depressed nasal bridge	HP:0005280
341640	FREM2	Encephalocele	HP:0002084
341640	FREM2	Dental crowding	HP:0000678
341640	FREM2	Pulmonary hypoplasia	HP:0002089
341640	FREM2	Myelomeningocele	HP:0002475
341640	FREM2	Bicornuate uterus	HP:0000813
341640	FREM2	Ectopic anus	HP:0004397
341640	FREM2	Scrotal hypoplasia	HP:0000046
341640	FREM2	Underdeveloped nasal alae	HP:0000430
341640	FREM2	Wide nasal bridge	HP:0000431
341640	FREM2	Hypospadias	HP:0000047
341640	FREM2	Dental malocclusion	HP:0000689
341640	FREM2	Abnormal lung lobation	HP:0002101
341640	FREM2	Microphthalmia	HP:0000568
341640	FREM2	Bifid tongue	HP:0010297
341640	FREM2	Malformed lacrimal duct	HP:0007993
341640	FREM2	Hypertelorism	HP:0000316
341640	FREM2	Ambiguous genitalia	HP:0000062
341640	FREM2	Laryngeal stenosis	HP:0001602
341640	FREM2	Urethral atresia	HP:0000068
341640	FREM2	Subglottic stenosis	HP:0001607
341640	FREM2	Cleft upper lip	HP:0000204
341640	FREM2	Wide intermamillary distance	HP:0006610
341640	FREM2	Calvarial skull defect	HP:0001362
341640	FREM2	Finger syndactyly	HP:0006101
341640	FREM2	Abnormality of cardiovascular system morphology	HP:0030680
341640	FREM2	Tracheal stenosis	HP:0002777
341640	FREM2	Renal hypoplasia	HP:0000089
341640	FREM2	Female pseudohermaphroditism	HP:0010458
341640	FREM2	High palate	HP:0000218
341640	FREM2	Vertebral segmentation defect	HP:0003422
341640	FREM2	Abnormal hair pattern	HP:0010720
341640	FREM2	Intellectual disability	HP:0001249
341640	FREM2	Cryptophthalmos	HP:0001126
341640	FREM2	Anal atresia	HP:0002023
341640	FREM2	Renal agenesis	HP:0000104
341640	FREM2	Anal stenosis	HP:0002025
341640	FREM2	Toe syndactyly	HP:0001770
341640	FREM2	Blindness	HP:0000618
341640	FREM2	Wide pubic symphysis	HP:0003183
341640	FREM2	Low-set, posteriorly rotated ears	HP:0000368
341640	FREM2	Death in infancy	HP:0001522
341640	FREM2	Lacrimal duct aplasia	HP:0007925
341640	FREM2	Cleft ala nasi	HP:0003191
341640	FREM2	Microcephaly	HP:0000252
341640	FREM2	External ear malformation	HP:0008572
5774	PTPN3	Acholic stools	HP:0011985
5774	PTPN3	Anorexia	HP:0002039
5774	PTPN3	Jaundice	HP:0000952
5774	PTPN3	Fever	HP:0001945
5774	PTPN3	Fatigue	HP:0012378
5774	PTPN3	Abdominal pain	HP:0002027
5774	PTPN3	Pruritus	HP:0000989
5774	PTPN3	Biliary tract neoplasm	HP:0100574
54928	IMPAD1	Narrow mouth	HP:0000160
54928	IMPAD1	Short metacarpal	HP:0010049
54928	IMPAD1	Short stature	HP:0004322
54928	IMPAD1	Brachydactyly	HP:0001156
54928	IMPAD1	Short toe	HP:0001831
54928	IMPAD1	Autosomal recessive inheritance	HP:0000007
54928	IMPAD1	Proptosis	HP:0000520
54928	IMPAD1	Genu valgum	HP:0002857
54928	IMPAD1	Short foot	HP:0001773
54928	IMPAD1	Hearing impairment	HP:0000365
54928	IMPAD1	Wide nasal bridge	HP:0000431
54928	IMPAD1	Cleft palate	HP:0000175
54928	IMPAD1	Flat face	HP:0012368
54928	IMPAD1	Patellar dislocation	HP:0002999
54928	IMPAD1	Coronal craniosynostosis	HP:0004440
54928	IMPAD1	Micrognathia	HP:0000347
54928	IMPAD1	Short nose	HP:0003196
54928	IMPAD1	High forehead	HP:0000348
54931	TRMT10C	Feeding difficulties	HP:0011968
54931	TRMT10C	Decreased liver function	HP:0001410
54931	TRMT10C	Gastroesophageal reflux	HP:0002020
54931	TRMT10C	Failure to thrive	HP:0001508
54931	TRMT10C	Increased serum lactate	HP:0002151
54931	TRMT10C	Autosomal recessive inheritance	HP:0000007
54931	TRMT10C	Generalized hypotonia	HP:0001290
54931	TRMT10C	Left ventricular hypertrophy	HP:0001712
54931	TRMT10C	Hyperalaninemia	HP:0003348
54931	TRMT10C	Lactic acidosis	HP:0003128
54931	TRMT10C	Congenital onset	HP:0003577
54931	TRMT10C	Increased CSF lactate	HP:0002490
54931	TRMT10C	Elevated hepatic transaminase	HP:0002910
5781	PTPN11	Pectus carinatum	HP:0000768
5781	PTPN11	Autosomal dominant inheritance	HP:0000006
5781	PTPN11	Proptosis	HP:0000520
5781	PTPN11	Enlarged thorax	HP:0100625
5781	PTPN11	Hypoplasia of the ovary	HP:0008724
5781	PTPN11	Multiple digital exostoses	HP:0005655
5781	PTPN11	Midface retrusion	HP:0011800
5781	PTPN11	Delayed menarche	HP:0012569
5781	PTPN11	Cryptorchidism	HP:0000028
5781	PTPN11	Epicanthus	HP:0000286
5781	PTPN11	Myopia	HP:0000545
5781	PTPN11	Atrioventricular canal defect	HP:0006695
5781	PTPN11	Abnormality of epiphysis morphology	HP:0005930
5781	PTPN11	Hypogonadotrophic hypogonadism	HP:0000044
5781	PTPN11	Muscle weakness	HP:0001324
5781	PTPN11	Melanoma	HP:0002861
5781	PTPN11	Hypospadias	HP:0000047
5781	PTPN11	Mandibular prognathia	HP:0000303
5781	PTPN11	Myelodysplasia	HP:0002863
5781	PTPN11	Abnormal dermatoglyphics	HP:0007477
5781	PTPN11	Micropenis	HP:0000054
5781	PTPN11	Delayed puberty	HP:0000823
5781	PTPN11	Hyposmia	HP:0004409
5781	PTPN11	Dilatation	HP:0002617
5781	PTPN11	Hypertelorism	HP:0000316
5781	PTPN11	Joint hyperflexibility	HP:0005692
5781	PTPN11	Abnormality of the pulmonary artery	HP:0004414
5781	PTPN11	Pulmonary artery stenosis	HP:0004415
5781	PTPN11	Triangular face	HP:0000325
5781	PTPN11	Multiple enchondromatosis	HP:0005701
5781	PTPN11	Abnormality of the voice	HP:0001608
5781	PTPN11	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
5781	PTPN11	Bowing of the long bones	HP:0006487
5781	PTPN11	Abnormal joint morphology	HP:0001367
5781	PTPN11	Neurofibrosarcoma	HP:0100697
5781	PTPN11	Scoliosis	HP:0002650
5781	PTPN11	Micrognathia	HP:0000347
5781	PTPN11	High forehead	HP:0000348
5781	PTPN11	Abnormal platelet function	HP:0011869
5781	PTPN11	Bone pain	HP:0002653
5781	PTPN11	Ventricular septal defect	HP:0001629
5781	PTPN11	Atrial septal defect	HP:0001631
5781	PTPN11	Abnormal hair quantity	HP:0011362
5781	PTPN11	Mitral valve prolapse	HP:0001634
5781	PTPN11	Abnormal bleeding	HP:0001892
5781	PTPN11	Posteriorly rotated ears	HP:0000358
5781	PTPN11	Hypertrophic cardiomyopathy	HP:0001639
5781	PTPN11	Neoplasm	HP:0002664
5781	PTPN11	Abnormal pulmonary valve morphology	HP:0001641
5781	PTPN11	Pulmonic stenosis	HP:0001642
5781	PTPN11	Scapular winging	HP:0003691
5781	PTPN11	Patent ductus arteriosus	HP:0001643
5781	PTPN11	Low-set, posteriorly rotated ears	HP:0000368
5781	PTPN11	Clinodactyly of the 5th finger	HP:0004209
5781	PTPN11	Low-set ears	HP:0000369
5781	PTPN11	Low posterior hairline	HP:0002162
5781	PTPN11	Aplasia of the semicircular canal	HP:0011381
5781	PTPN11	Unilateral renal agenesis	HP:0000122
5781	PTPN11	Myocardial infarction	HP:0001658
5781	PTPN11	Nystagmus	HP:0000639
5781	PTPN11	Brachydactyly	HP:0001156
5781	PTPN11	Clinodactyly	HP:0030084
5781	PTPN11	Avascular necrosis	HP:0010885
5781	PTPN11	Thickened helices	HP:0000391
5781	PTPN11	Hypogonadism	HP:0000135
5781	PTPN11	Abnormality of coagulation	HP:0001928
5781	PTPN11	Coarctation of aorta	HP:0001680
5781	PTPN11	Sprengel anomaly	HP:0000912
5781	PTPN11	Decreased fertility	HP:0000144
5781	PTPN11	High, narrow palate	HP:0002705
5781	PTPN11	Heterogeneous	HP:0001425
5781	PTPN11	Subvalvular aortic stenosis	HP:0001682
5781	PTPN11	Shield chest	HP:0000914
5781	PTPN11	Pectus excavatum of inferior sternum	HP:0000915
5781	PTPN11	Somatic mutation	HP:0001428
5781	PTPN11	Superior pectus carinatum	HP:0000917
5781	PTPN11	Sensorineural hearing impairment	HP:0000407
5781	PTPN11	Cubitus valgus	HP:0002967
5781	PTPN11	Missing ribs	HP:0000921
5781	PTPN11	Arrhythmia	HP:0011675
5781	PTPN11	Protruding ear	HP:0000411
5781	PTPN11	Abnormality of the vertebral column	HP:0000925
5781	PTPN11	Radioulnar synostosis	HP:0002974
5781	PTPN11	Coarse hair	HP:0002208
5781	PTPN11	Synovitis	HP:0100769
5781	PTPN11	Reduced factor XIII activity	HP:0008357
5781	PTPN11	Feeding difficulties in infancy	HP:0008872
5781	PTPN11	Exostoses	HP:0100777
5781	PTPN11	Cranial nerve paralysis	HP:0006824
5781	PTPN11	Third degree atrioventricular block	HP:0001709
5781	PTPN11	Cleft palate	HP:0000175
5781	PTPN11	Wide nasal bridge	HP:0000431
5781	PTPN11	Abnormality of the metaphysis	HP:0000944
5781	PTPN11	Juvenile myelomonocytic leukemia	HP:0012209
5781	PTPN11	Dental malocclusion	HP:0000689
5781	PTPN11	Severe sensorineural hearing impairment	HP:0008625
5781	PTPN11	Thick lower lip vermilion	HP:0000179
5781	PTPN11	Male infertility	HP:0003251
5781	PTPN11	Limited elbow movement	HP:0002996
5781	PTPN11	Cafe-au-lait spot	HP:0000957
5781	PTPN11	Delayed skeletal maturation	HP:0002750
5781	PTPN11	Bundle branch block	HP:0011710
5781	PTPN11	Neuroblastoma	HP:0003006
5781	PTPN11	Kyphoscoliosis	HP:0002751
5781	PTPN11	Abnormal localization of kidney	HP:0100542
5781	PTPN11	Hepatomegaly	HP:0002240
5781	PTPN11	Postnatal growth retardation	HP:0008897
5781	PTPN11	Freckling	HP:0001480
5781	PTPN11	Depressed nasal ridge	HP:0000457
5781	PTPN11	Subcutaneous nodule	HP:0001482
5781	PTPN11	Hyperextensible skin	HP:0000974
5781	PTPN11	Abnormality of the spleen	HP:0001743
5781	PTPN11	Webbed neck	HP:0000465
5781	PTPN11	Wide intermamillary distance	HP:0006610
5781	PTPN11	Abnormal endocardium morphology	HP:0004306
5781	PTPN11	Short neck	HP:0000470
5781	PTPN11	Thickened nuchal skin fold	HP:0000474
5781	PTPN11	High palate	HP:0000218
5781	PTPN11	Cystic hygroma	HP:0000476
5781	PTPN11	Aplasia of the ovary	HP:0010463
5781	PTPN11	Excessive wrinkled skin	HP:0007392
5781	PTPN11	Intellectual disability	HP:0001249
5781	PTPN11	Short stature	HP:0004322
5781	PTPN11	Spina bifida occulta	HP:0003298
5781	PTPN11	Melanocytic nevus	HP:0000995
5781	PTPN11	Muscular hypotonia	HP:0001252
5781	PTPN11	Strabismus	HP:0000486
5781	PTPN11	Intrauterine growth retardation	HP:0001511
5781	PTPN11	Intellectual disability, mild	HP:0001256
5781	PTPN11	Reduced factor XII activity	HP:0004841
5781	PTPN11	Multiple lentigines	HP:0001003
5781	PTPN11	Dysarthria	HP:0001260
5781	PTPN11	Lymphedema	HP:0001004
5781	PTPN11	Downslanted palpebral fissures	HP:0000494
5781	PTPN11	Global developmental delay	HP:0001263
5781	PTPN11	Parietal bossing	HP:0000242
5781	PTPN11	Brachycephaly	HP:0000248
5781	PTPN11	Radial deviation of finger	HP:0009466
5781	PTPN11	Amegakaryocytic thrombocytopenia	HP:0004859
5781	PTPN11	Failure to thrive in infancy	HP:0001531
5781	PTPN11	Ptosis	HP:0000508
5781	PTPN11	Pectus excavatum	HP:0000767
5784	PTPN14	Pericardial effusion	HP:0001698
5784	PTPN14	Choanal atresia	HP:0000453
5784	PTPN14	Autosomal recessive inheritance	HP:0000007
5784	PTPN14	High palate	HP:0000218
5784	PTPN14	Lymphedema	HP:0001004
54936	ADPRHL2	Poor speech	HP:0002465
54936	ADPRHL2	Seizures	HP:0001250
54936	ADPRHL2	Strabismus	HP:0000486
54936	ADPRHL2	Developmental regression	HP:0002376
54936	ADPRHL2	Cerebral atrophy	HP:0002059
54936	ADPRHL2	Muscle weakness	HP:0001324
54936	ADPRHL2	Dysarthria	HP:0001260
54936	ADPRHL2	Axonal loss	HP:0003447
54936	ADPRHL2	Cerebellar atrophy	HP:0001272
54936	ADPRHL2	Tremor	HP:0001337
54936	ADPRHL2	Ophthalmoplegia	HP:0000602
54936	ADPRHL2	Ptosis	HP:0000508
54936	ADPRHL2	Dysmetria	HP:0001310
54936	ADPRHL2	Nystagmus	HP:0000639
54936	ADPRHL2	Babinski sign	HP:0003487
54938	SARS2	Feeding difficulties	HP:0011968
54938	SARS2	Type 2 muscle fiber atrophy	HP:0003554
54938	SARS2	Failure to thrive	HP:0001508
54938	SARS2	Hypomagnesemia	HP:0002917
54938	SARS2	Hyperuricemia	HP:0002149
54938	SARS2	Polyuria	HP:0000103
54938	SARS2	Autosomal recessive inheritance	HP:0000007
54938	SARS2	Infantile onset	HP:0003593
54938	SARS2	Generalized hypotonia	HP:0001290
54938	SARS2	Pulmonary arterial hypertension	HP:0002092
54938	SARS2	Chronic kidney disease	HP:0012622
54938	SARS2	Hyperechogenic kidneys	HP:0004719
54938	SARS2	Anemia	HP:0001903
54938	SARS2	Thrombocytopenia	HP:0001873
54938	SARS2	Diabetes mellitus	HP:0000819
54938	SARS2	Premature birth	HP:0001622
54938	SARS2	Hyponatremia	HP:0002902
54938	SARS2	Hypochloremic metabolic alkalosis	HP:0005977
54938	SARS2	Leukopenia	HP:0001882
54938	SARS2	Proteinuria	HP:0000093
54938	SARS2	Respiratory failure	HP:0002878
54938	SARS2	Renal salt wasting	HP:0000127
153241	CEP120	Omphalocele	HP:0001539
153241	CEP120	Abnormality of the ribs	HP:0000772
153241	CEP120	Short ribs	HP:0000773
153241	CEP120	Narrow chest	HP:0000774
153241	CEP120	Autosomal recessive inheritance	HP:0000007
153241	CEP120	Gait disturbance	HP:0001288
153241	CEP120	Generalized hypotonia	HP:0001290
153241	CEP120	Long face	HP:0000276
153241	CEP120	Abnormality of retinal pigmentation	HP:0007703
153241	CEP120	Coarse facial features	HP:0000280
153241	CEP120	Midface retrusion	HP:0011800
153241	CEP120	Dandy-Walker malformation	HP:0001305
153241	CEP120	Cryptorchidism	HP:0000028
153241	CEP120	Truncal ataxia	HP:0002078
153241	CEP120	Hypoplasia of the corpus callosum	HP:0002079
153241	CEP120	Encephalocele	HP:0002084
153241	CEP120	Foot polydactyly	HP:0001829
153241	CEP120	Postaxial foot polydactyly	HP:0001830
153241	CEP120	Cerebellar vermis hypoplasia	HP:0001320
153241	CEP120	Cerebellar hypoplasia	HP:0001321
153241	CEP120	Pulmonary hypoplasia	HP:0002089
153241	CEP120	Retinal dystrophy	HP:0000556
153241	CEP120	Respiratory insufficiency	HP:0002093
153241	CEP120	Aplasia/Hypoplasia of the lungs	HP:0006703
153241	CEP120	Unicoronal synostosis	HP:0011315
153241	CEP120	Microretrognathia	HP:0000308
153241	CEP120	Bell-shaped thorax	HP:0001591
153241	CEP120	Microphthalmia	HP:0000568
153241	CEP120	Apnea	HP:0002104
153241	CEP120	Bifid tongue	HP:0010297
153241	CEP120	Tremor	HP:0001337
153241	CEP120	Hypertelorism	HP:0000316
153241	CEP120	Visual loss	HP:0000572
153241	CEP120	Episodic tachypnea	HP:0002876
153241	CEP120	Ambiguous genitalia	HP:0000062
153241	CEP120	Short thorax	HP:0010306
153241	CEP120	Biparietal narrowing	HP:0004422
153241	CEP120	Ventriculomegaly	HP:0002119
153241	CEP120	Polymicrogyria	HP:0002126
153241	CEP120	Renal insufficiency	HP:0000083
153241	CEP120	Cone-shaped epiphysis	HP:0010579
153241	CEP120	Abnormality of pelvic girdle bone morphology	HP:0002644
153241	CEP120	Renal hypoplasia	HP:0000089
153241	CEP120	Scoliosis	HP:0002650
153241	CEP120	Nephronophthisis	HP:0000090
153241	CEP120	Skeletal dysplasia	HP:0002652
153241	CEP120	Abnormality of the hypothalamus-pituitary axis	HP:0000864
153241	CEP120	Iris coloboma	HP:0000612
153241	CEP120	Squared iliac bones	HP:0003177
153241	CEP120	Renal cyst	HP:0000107
153241	CEP120	Patent ductus arteriosus	HP:0001643
153241	CEP120	Flat acetabular roof	HP:0003180
153241	CEP120	Low-set, posteriorly rotated ears	HP:0000368
153241	CEP120	Abnormality of the liver	HP:0001392
153241	CEP120	Nephropathy	HP:0000112
153241	CEP120	Low-set ears	HP:0000369
153241	CEP120	Molar tooth sign on MRI	HP:0002419
153241	CEP120	Dextrocardia	HP:0001651
153241	CEP120	Horizontal ribs	HP:0000888
153241	CEP120	Abnormality of the clavicle	HP:0000889
153241	CEP120	Nystagmus	HP:0000639
153241	CEP120	Relative macrocephaly	HP:0004482
153241	CEP120	Hypoplastic facial bones	HP:0002692
153241	CEP120	Brachydactyly	HP:0001156
153241	CEP120	Hypoplastic pelvis	HP:0008839
153241	CEP120	Hand polydactyly	HP:0001161
153241	CEP120	Postaxial hand polydactyly	HP:0001162
153241	CEP120	Abnormal vertebral morphology	HP:0003468
153241	CEP120	Macrotia	HP:0000400
153241	CEP120	Oculomotor apraxia	HP:0000657
153241	CEP120	Situs inversus totalis	HP:0001696
153241	CEP120	Postaxial polydactyly	HP:0100259
153241	CEP120	Preaxial polydactyly	HP:0100258
153241	CEP120	Micromelia	HP:0002983
153241	CEP120	Cleft lip	HP:0410030
153241	CEP120	Feeding difficulties in infancy	HP:0008872
153241	CEP120	Prominent nasal bridge	HP:0000426
153241	CEP120	Cleft palate	HP:0000175
153241	CEP120	Abnormality of the metaphysis	HP:0000944
153241	CEP120	Lobulated tongue	HP:0000180
153241	CEP120	Natal tooth	HP:0000695
153241	CEP120	Cognitive impairment	HP:0100543
153241	CEP120	Prominent nose	HP:0000448
153241	CEP120	Feeding difficulties	HP:0011968
153241	CEP120	Rhizomelia	HP:0008905
153241	CEP120	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
153241	CEP120	Oral cleft	HP:0000202
153241	CEP120	Aganglionic megacolon	HP:0002251
153241	CEP120	Anteverted nares	HP:0000463
153241	CEP120	Retinal coloboma	HP:0000480
153241	CEP120	Intellectual disability	HP:0001249
153241	CEP120	Seizures	HP:0001250
153241	CEP120	Short stature	HP:0004322
153241	CEP120	Ataxia	HP:0001251
153241	CEP120	Muscular hypotonia	HP:0001252
153241	CEP120	Strabismus	HP:0000486
153241	CEP120	Toe syndactyly	HP:0001770
153241	CEP120	Short foot	HP:0001773
153241	CEP120	Hydrocephalus	HP:0000238
153241	CEP120	Global developmental delay	HP:0001263
153241	CEP120	Abnormal form of the vertebral bodies	HP:0003312
153241	CEP120	Highly arched eyebrow	HP:0002553
153241	CEP120	Agenesis of corpus callosum	HP:0001274
153241	CEP120	Ptosis	HP:0000508
153241	CEP120	Abnormality of the sternum	HP:0000766
5788	PTPRC	Splenomegaly	HP:0001744
5788	PTPRC	Hepatomegaly	HP:0002240
5788	PTPRC	Failure to thrive secondary to recurrent infections	HP:0008866
5788	PTPRC	Otitis media	HP:0000388
5788	PTPRC	Eczema	HP:0000964
5788	PTPRC	Autosomal recessive inheritance	HP:0000007
5788	PTPRC	Oral ulcer	HP:0000155
5788	PTPRC	Decrease in T cell count	HP:0005403
5788	PTPRC	Lymphadenopathy	HP:0002716
5788	PTPRC	Recurrent opportunistic infections	HP:0005390
5788	PTPRC	Severe combined immunodeficiency	HP:0004430
5788	PTPRC	Diarrhea	HP:0002014
54941	RNF125	Macrocephaly	HP:0000256
54941	RNF125	Autosomal dominant inheritance	HP:0000006
54941	RNF125	Ventriculomegaly	HP:0002119
54941	RNF125	Cerebral cortical atrophy	HP:0002120
54941	RNF125	Gait disturbance	HP:0001288
54941	RNF125	Clumsiness	HP:0002312
54941	RNF125	Keratoconjunctivitis sicca	HP:0001097
54941	RNF125	Generalized hypotonia	HP:0001290
54941	RNF125	Psychomotor retardation	HP:0025356
54941	RNF125	Delayed cranial suture closure	HP:0000270
54941	RNF125	Anteverted nares	HP:0000463
54941	RNF125	Large forehead	HP:0002003
54941	RNF125	Cavum septum pellucidum	HP:0002389
54941	RNF125	Hypoglycemia	HP:0001943
54941	RNF125	Hypoinsulinemia	HP:0040216
54941	RNF125	Scoliosis	HP:0002650
54941	RNF125	Macroglossia	HP:0000158
54941	RNF125	Raynaud phenomenon	HP:0030880
54941	RNF125	Intellectual disability	HP:0001249
54941	RNF125	Seizures	HP:0001250
54941	RNF125	Anxiety	HP:0000739
54941	RNF125	Gastroesophageal reflux	HP:0002020
54941	RNF125	Hypertrichosis	HP:0000998
54941	RNF125	Stomatitis	HP:0010280
54941	RNF125	Osteopenia	HP:0000938
54941	RNF125	Pneumonia	HP:0002090
54941	RNF125	Delayed speech and language development	HP:0000750
54941	RNF125	Hydrocephalus	HP:0000238
54941	RNF125	Mandibular prognathia	HP:0000303
54941	RNF125	Cerebral palsy	HP:0100021
54941	RNF125	Hemihypertrophy	HP:0001528
54941	RNF125	Apnea	HP:0002104
54941	RNF125	Telecanthus	HP:0000506
54941	RNF125	Wide nose	HP:0000445
54941	RNF125	Thick eyebrow	HP:0000574
54941	RNF125	Syncope	HP:0001279
5792	PTPRF	Small earlobe	HP:0000385
5792	PTPRF	Absent nipple	HP:0002561
5792	PTPRF	Autosomal recessive inheritance	HP:0000007
5792	PTPRF	Broad nasal tip	HP:0000455
5792	PTPRF	Hypoplastic nipples	HP:0002557
5792	PTPRF	Smooth philtrum	HP:0000319
128674	PROKR2	Abnormality of body height	HP:0000002
128674	PROKR2	Gynecomastia	HP:0000771
128674	PROKR2	Absence of pubertal development	HP:0008197
128674	PROKR2	Autosomal dominant inheritance	HP:0000006
128674	PROKR2	Autosomal recessive inheritance	HP:0000007
128674	PROKR2	Gait disturbance	HP:0001288
128674	PROKR2	Hypoplasia of the uterus	HP:0000013
128674	PROKR2	Tracheoesophageal fistula	HP:0002575
128674	PROKR2	Primary amenorrhea	HP:0000786
128674	PROKR2	Hypoplasia of the ovary	HP:0008724
128674	PROKR2	Hemiplegia/hemiparesis	HP:0004374
128674	PROKR2	Male hypogonadism	HP:0000026
128674	PROKR2	Cryptorchidism	HP:0000028
128674	PROKR2	Decreased testicular size	HP:0008734
128674	PROKR2	Erectile abnormalities	HP:0100639
128674	PROKR2	Hypoplasia of penis	HP:0008736
128674	PROKR2	Impotence	HP:0000802
128674	PROKR2	Color vision defect	HP:0000551
128674	PROKR2	Hypogonadotrophic hypogonadism	HP:0000044
128674	PROKR2	Muscle weakness	HP:0001324
128674	PROKR2	Hypothyroidism	HP:0000821
128674	PROKR2	Micropenis	HP:0000054
128674	PROKR2	Paraplegia	HP:0010550
128674	PROKR2	Delayed puberty	HP:0000823
128674	PROKR2	Bimanual synkinesia	HP:0001335
128674	PROKR2	Sleep disturbance	HP:0002360
128674	PROKR2	Tremor	HP:0001337
128674	PROKR2	Hyposmia	HP:0004409
128674	PROKR2	Hypertelorism	HP:0000316
128674	PROKR2	Anterior hypopituitarism	HP:0000830
128674	PROKR2	Dyspareunia	HP:0030016
128674	PROKR2	Adrenal hypoplasia	HP:0000835
128674	PROKR2	Increased female libido	HP:0030019
128674	PROKR2	Maternal diabetes	HP:0009800
128674	PROKR2	Abnormality of the voice	HP:0001608
128674	PROKR2	Reduced number of teeth	HP:0009804
128674	PROKR2	Congenital sensorineural hearing impairment	HP:0008527
128674	PROKR2	Hypotelorism	HP:0000601
128674	PROKR2	Fatigue	HP:0012378
128674	PROKR2	Skeletal dysplasia	HP:0002652
128674	PROKR2	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
128674	PROKR2	Camptodactyly	HP:0012385
128674	PROKR2	Secondary amenorrhea	HP:0000869
128674	PROKR2	Renal agenesis	HP:0000104
128674	PROKR2	Diabetes insipidus	HP:0000873
128674	PROKR2	Hearing impairment	HP:0000365
128674	PROKR2	Breast hypoplasia	HP:0003187
128674	PROKR2	Unilateral renal agenesis	HP:0000122
128674	PROKR2	Nystagmus	HP:0000639
128674	PROKR2	Ichthyosis	HP:0008064
128674	PROKR2	Anterior pituitary hypoplasia	HP:0010627
128674	PROKR2	Female hypogonadism	HP:0000134
128674	PROKR2	Decreased fertility	HP:0000144
128674	PROKR2	Sensorineural hearing impairment	HP:0000407
128674	PROKR2	Hypoglycemia	HP:0001943
128674	PROKR2	Depressed nasal bridge	HP:0005280
128674	PROKR2	Abnormality of the dentition	HP:0000164
128674	PROKR2	Polydipsia	HP:0001959
128674	PROKR2	Osteopenia	HP:0000938
128674	PROKR2	Osteoporosis	HP:0000939
128674	PROKR2	Cleft palate	HP:0000175
128674	PROKR2	Sparse body hair	HP:0002231
128674	PROKR2	Non-obstructive azoospermia	HP:0011961
128674	PROKR2	Dry skin	HP:0000958
128674	PROKR2	Delayed skeletal maturation	HP:0002750
128674	PROKR2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
128674	PROKR2	Recurrent fractures	HP:0002757
128674	PROKR2	Hypohidrosis	HP:0000966
128674	PROKR2	Eunuchoid habitus	HP:0003782
128674	PROKR2	Generalized joint laxity	HP:0002761
128674	PROKR2	Anosmia	HP:0000458
128674	PROKR2	Cleft upper lip	HP:0000204
128674	PROKR2	Depressivity	HP:0000716
128674	PROKR2	Autism	HP:0000717
128674	PROKR2	Wide intermamillary distance	HP:0006610
128674	PROKR2	Abnormality of cardiovascular system morphology	HP:0030680
128674	PROKR2	Intellectual disability	HP:0001249
128674	PROKR2	Pes cavus	HP:0001761
128674	PROKR2	Seizures	HP:0001250
128674	PROKR2	Short stature	HP:0004322
128674	PROKR2	Constipation	HP:0002019
128674	PROKR2	Ataxia	HP:0001251
128674	PROKR2	Pes planus	HP:0001763
128674	PROKR2	Anxiety	HP:0000739
128674	PROKR2	Muscular hypotonia	HP:0001252
128674	PROKR2	Failure to thrive	HP:0001508
128674	PROKR2	Strabismus	HP:0000486
128674	PROKR2	Obesity	HP:0001513
128674	PROKR2	Septo-optic dysplasia	HP:0100842
128674	PROKR2	Ectopic posterior pituitary	HP:0011755
128674	PROKR2	Decreased serum testosterone level	HP:0040171
128674	PROKR2	Dysarthria	HP:0001260
128674	PROKR2	Global developmental delay	HP:0001263
128674	PROKR2	Esophageal atresia	HP:0002032
128674	PROKR2	Death in infancy	HP:0001522
128674	PROKR2	Incomplete penetrance	HP:0003829
128674	PROKR2	Visual impairment	HP:0000505
128674	PROKR2	Agenesis of corpus callosum	HP:0001274
128674	PROKR2	Absence of secondary sex characteristics	HP:0008187
128674	PROKR2	Ptosis	HP:0000508
128674	PROKR2	Reduced bone mineral density	HP:0004349
128674	PROKR2	Pectus excavatum	HP:0000767
54949	SDHAF2	Hypercalcemia	HP:0003072
54949	SDHAF2	Vocal cord paralysis	HP:0001605
54949	SDHAF2	Vagal paraganglioma	HP:0002886
54949	SDHAF2	Autosomal dominant inheritance	HP:0000006
54949	SDHAF2	Hypertensive retinopathy	HP:0001095
54949	SDHAF2	Elevated calcitonin	HP:0003528
54949	SDHAF2	Hoarse voice	HP:0001609
54949	SDHAF2	Elevated urinary dopamine	HP:0011979
54949	SDHAF2	Chest pain	HP:0100749
54949	SDHAF2	Cranial nerve compression	HP:0001293
54949	SDHAF2	Aniridia	HP:0000526
54949	SDHAF2	Episodic abdominal pain	HP:0002574
54949	SDHAF2	Renal cell carcinoma	HP:0005584
54949	SDHAF2	Elevated urinary norepinephrine	HP:0003345
54949	SDHAF2	Extraadrenal pheochromocytoma	HP:0006737
54949	SDHAF2	Dysphonia	HP:0001618
54949	SDHAF2	Pallor	HP:0000980
54949	SDHAF2	Conductive hearing impairment	HP:0000405
54949	SDHAF2	Hematuria	HP:0000790
54949	SDHAF2	Loss of voice	HP:0001686
54949	SDHAF2	Fatigue	HP:0012378
54949	SDHAF2	Recurrent paroxysmal headache	HP:0002331
54949	SDHAF2	Adrenal pheochromocytoma	HP:0006748
54949	SDHAF2	Proteinuria	HP:0000093
54949	SDHAF2	Weight loss	HP:0001824
54949	SDHAF2	Glomerulosclerosis	HP:0000096
54949	SDHAF2	Nausea	HP:0002018
54949	SDHAF2	Congestive heart failure	HP:0001635
54949	SDHAF2	Paroxysmal vertigo	HP:0010532
54949	SDHAF2	Episodic paroxysmal anxiety	HP:0000740
54949	SDHAF2	Cranial nerve paralysis	HP:0006824
54949	SDHAF2	Palpitations	HP:0001962
54949	SDHAF2	Episodic hyperhidrosis	HP:0001069
54949	SDHAF2	Retinal capillary hemangioma	HP:0009711
54949	SDHAF2	Paraganglioma of head and neck	HP:0002864
54949	SDHAF2	Flushing	HP:0031284
54949	SDHAF2	Panic attack	HP:0025269
54949	SDHAF2	Pulsatile tinnitus	HP:0008629
54949	SDHAF2	Positive regitine blocking test	HP:0003574
54949	SDHAF2	Sinus tachycardia	HP:0011703
54949	SDHAF2	Elevated urinary epinephrine	HP:0003639
54949	SDHAF2	Tremor	HP:0001337
54949	SDHAF2	Glomus jugular tumor	HP:0003001
54949	SDHAF2	Chemodectoma	HP:0030074
54949	SDHAF2	Glomus tympanicum paraganglioma	HP:0006715
54949	SDHAF2	Adult onset	HP:0003581
54949	SDHAF2	Cerebral hemorrhage	HP:0001342
54949	SDHAF2	Arachnoid hemangiomatosis	HP:0012222
5800	PTPRO	Hypoalbuminemia	HP:0003073
5800	PTPRO	Focal segmental glomerulosclerosis	HP:0000097
5800	PTPRO	Nephrotic syndrome	HP:0000100
5800	PTPRO	Variable expressivity	HP:0003828
5800	PTPRO	Autosomal recessive inheritance	HP:0000007
5800	PTPRO	Tubulointerstitial fibrosis	HP:0005576
5800	PTPRO	Edema	HP:0000969
5800	PTPRO	Proteinuria	HP:0000093
5805	PTS	Hyperreflexia	HP:0001347
5805	PTS	Opisthotonus	HP:0002179
5805	PTS	Excessive salivation	HP:0003781
5805	PTS	Autosomal recessive inheritance	HP:0000007
5805	PTS	Infantile onset	HP:0003593
5805	PTS	Agitation	HP:0000713
5805	PTS	Psychomotor retardation	HP:0025356
5805	PTS	Depressivity	HP:0000716
5805	PTS	Rigidity	HP:0002063
5805	PTS	Bradykinesia	HP:0002067
5805	PTS	Parkinsonism	HP:0001300
5805	PTS	Pallor	HP:0000980
5805	PTS	Hypsarrhythmia	HP:0002521
5805	PTS	Drowsiness	HP:0002329
5805	PTS	Dysphagia	HP:0002015
5805	PTS	Falls	HP:0002527
5805	PTS	Irritability	HP:0000737
5805	PTS	Intellectual disability	HP:0001249
5805	PTS	Recurrent fever	HP:0001954
5805	PTS	Seizures	HP:0001250
5805	PTS	Ataxia	HP:0001251
5805	PTS	Muscular hypotonia	HP:0001252
5805	PTS	Intellectual disability, progressive	HP:0006887
5805	PTS	Progressive neurologic deterioration	HP:0002344
5805	PTS	Muscular hypotonia of the trunk	HP:0008936
5805	PTS	Small for gestational age	HP:0001518
5805	PTS	Excessive daytime somnolence	HP:0001262
5805	PTS	Delayed speech and language development	HP:0000750
5805	PTS	Global developmental delay	HP:0001263
5805	PTS	Poor suck	HP:0002033
5805	PTS	Choreoathetosis	HP:0001266
5805	PTS	Dystonia	HP:0001332
5805	PTS	Poor head control	HP:0002421
5805	PTS	Motor delay	HP:0001270
5805	PTS	Hyperkinesis	HP:0002487
5805	PTS	Myoclonus	HP:0001336
5805	PTS	Tremor	HP:0001337
5805	PTS	Oculogyric crisis	HP:0010553
5805	PTS	Clonus	HP:0002169
5805	PTS	Hyperphenylalaninemia	HP:0004923
5805	PTS	Hypertonia	HP:0001276
5805	PTS	Microcephaly	HP:0000252
5805	PTS	Ptosis	HP:0000508
5813	PURA	Absent speech	HP:0001344
5813	PURA	Delayed myelination	HP:0012448
5813	PURA	Feeding difficulties	HP:0011968
5813	PURA	Intellectual disability	HP:0001249
5813	PURA	Open mouth	HP:0000194
5813	PURA	Seizures	HP:0001250
5813	PURA	CNS hypomyelination	HP:0003429
5813	PURA	Autosomal dominant inheritance	HP:0000006
5813	PURA	Strabismus	HP:0000486
5813	PURA	Neonatal hypotonia	HP:0001319
5813	PURA	Myopathic facies	HP:0002058
5813	PURA	Respiratory insufficiency	HP:0002093
5813	PURA	Global developmental delay	HP:0001263
5813	PURA	Variable expressivity	HP:0003828
5813	PURA	Prominent forehead	HP:0011220
5813	PURA	Broad-based gait	HP:0002136
5813	PURA	Myoclonus	HP:0001336
5813	PURA	High palate	HP:0000218
5813	PURA	Telecanthus	HP:0000506
5813	PURA	Nystagmus	HP:0000639
54968	TMEM70	Umbilical hernia	HP:0001537
54968	TMEM70	Cataract	HP:0000518
54968	TMEM70	Autosomal recessive inheritance	HP:0000007
54968	TMEM70	Generalized hypotonia	HP:0001290
54968	TMEM70	Camptodactyly of finger	HP:0100490
54968	TMEM70	Psychomotor retardation	HP:0025356
54968	TMEM70	Encephalopathy	HP:0001298
54968	TMEM70	Gastroparesis	HP:0002578
54968	TMEM70	Hyperalaninemia	HP:0003348
54968	TMEM70	Retrognathia	HP:0000278
54968	TMEM70	Inguinal hernia	HP:0000023
54968	TMEM70	Oligohydramnios	HP:0001562
54968	TMEM70	Wide mouth	HP:0000154
54968	TMEM70	Arrhythmia	HP:0011675
54968	TMEM70	Cryptorchidism	HP:0000028
54968	TMEM70	Intention tremor	HP:0002080
54968	TMEM70	Intellectual disability, moderate	HP:0002342
54968	TMEM70	Respiratory insufficiency	HP:0002093
54968	TMEM70	Wide nasal bridge	HP:0000431
54968	TMEM70	Hypospadias	HP:0000047
54968	TMEM70	Leukoencephalopathy	HP:0002352
54968	TMEM70	Microretrognathia	HP:0000308
54968	TMEM70	Hypertension	HP:0000822
54968	TMEM70	Lactic acidosis	HP:0003128
54968	TMEM70	Tremor	HP:0001337
54968	TMEM70	Respiratory failure	HP:0002878
54968	TMEM70	Hepatomegaly	HP:0002240
54968	TMEM70	Short philtrum	HP:0000322
54968	TMEM70	Hyperammonemia	HP:0001987
54968	TMEM70	Cerebral cortical atrophy	HP:0002120
54968	TMEM70	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
54968	TMEM70	Abnormality of the kidney	HP:0000077
54968	TMEM70	3-Methylglutaconic aciduria	HP:0003535
54968	TMEM70	Anteverted nares	HP:0000463
54968	TMEM70	Moderate global developmental delay	HP:0011343
54968	TMEM70	Encephalitis	HP:0002383
54968	TMEM70	Flat face	HP:0012368
54968	TMEM70	Premature birth	HP:0001622
54968	TMEM70	Long philtrum	HP:0000343
54968	TMEM70	Flat occiput	HP:0005469
54968	TMEM70	Seizures	HP:0001250
54968	TMEM70	Ataxia	HP:0001251
54968	TMEM70	Congestive heart failure	HP:0001635
54968	TMEM70	Failure to thrive	HP:0001508
54968	TMEM70	Muscular hypotonia	HP:0001252
54968	TMEM70	Increased serum lactate	HP:0002151
54968	TMEM70	Hypertrophic cardiomyopathy	HP:0001639
54968	TMEM70	Intrauterine growth retardation	HP:0001511
54968	TMEM70	Abnormal pulmonary valve morphology	HP:0001641
54968	TMEM70	Small for gestational age	HP:0001518
54968	TMEM70	Abnormal aortic valve morphology	HP:0001646
54968	TMEM70	Global developmental delay	HP:0001263
54968	TMEM70	Low-set ears	HP:0000369
54968	TMEM70	Death in infancy	HP:0001522
54968	TMEM70	Congenital onset	HP:0003577
54968	TMEM70	Microcephaly	HP:0000252
5818	NECTIN1	Sparse hair	HP:0008070
5818	NECTIN1	Hypogonadism	HP:0000135
5818	NECTIN1	Autosomal recessive inheritance	HP:0000007
5818	NECTIN1	Sparse eyelashes	HP:0000653
5818	NECTIN1	Macrotia	HP:0000400
5818	NECTIN1	Malar flattening	HP:0000272
5818	NECTIN1	Dystrophic toenail	HP:0001810
5818	NECTIN1	Sparse and thin eyebrow	HP:0000535
5818	NECTIN1	Synophrys	HP:0000664
5818	NECTIN1	Midface retrusion	HP:0011800
5818	NECTIN1	Protruding ear	HP:0000411
5818	NECTIN1	Hypodontia	HP:0000668
5818	NECTIN1	Recurrent respiratory infections	HP:0002205
5818	NECTIN1	Carious teeth	HP:0000670
5818	NECTIN1	Abnormality of the philtrum	HP:0000288
5818	NECTIN1	Anodontia	HP:0000674
5818	NECTIN1	Abnormality of dental enamel	HP:0000682
5818	NECTIN1	Hypoplasia of the zygomatic bone	HP:0010669
5818	NECTIN1	Scrotal hypoplasia	HP:0000046
5818	NECTIN1	Bilateral single transverse palmar creases	HP:0007598
5818	NECTIN1	Wide nasal bridge	HP:0000431
5818	NECTIN1	Cleft palate	HP:0000175
5818	NECTIN1	EEG abnormality	HP:0002353
5818	NECTIN1	Microdontia	HP:0000691
5818	NECTIN1	Bilateral cleft lip and palate	HP:0002744
5818	NECTIN1	Cutaneous finger syndactyly	HP:0010554
5818	NECTIN1	Alopecia	HP:0001596
5818	NECTIN1	Pili torti	HP:0003777
5818	NECTIN1	Abnormality of the ureter	HP:0000069
5818	NECTIN1	Triangular face	HP:0000325
5818	NECTIN1	Hypohidrosis	HP:0000966
5818	NECTIN1	Dystrophic fingernails	HP:0008391
5818	NECTIN1	Ectodermal dysplasia	HP:0000968
5818	NECTIN1	Palmoplantar hyperkeratosis	HP:0000972
5818	NECTIN1	Cleft upper lip	HP:0000204
5818	NECTIN1	Wide intermamillary distance	HP:0006610
5818	NECTIN1	Abnormality of dental morphology	HP:0006482
5818	NECTIN1	Finger syndactyly	HP:0006101
5818	NECTIN1	Abnormality of the ear	HP:0000598
5818	NECTIN1	Sparse lateral eyebrow	HP:0005338
5818	NECTIN1	Micrognathia	HP:0000347
5818	NECTIN1	Intellectual disability	HP:0001249
5818	NECTIN1	Seizures	HP:0001250
5818	NECTIN1	Toe syndactyly	HP:0001770
5818	NECTIN1	Hyperlordosis	HP:0003307
5818	NECTIN1	Downslanted palpebral fissures	HP:0000494
5818	NECTIN1	Nail dysplasia	HP:0002164
5818	NECTIN1	Neurological speech impairment	HP:0002167
5818	NECTIN1	Progressive hypotrichosis	HP:0002296
5818	NECTIN1	Highly arched eyebrow	HP:0002553
5818	NECTIN1	Brittle hair	HP:0002299
5818	NECTIN1	Cutaneous syndactyly of toes	HP:0010621
374462	PTPRQ	Motor delay	HP:0001270
374462	PTPRQ	Autosomal recessive inheritance	HP:0000007
374462	PTPRQ	Vestibular dysfunction	HP:0001751
374462	PTPRQ	Infantile onset	HP:0003593
374462	PTPRQ	Hearing impairment	HP:0000365
5824	PEX19	Macrocephaly	HP:0000256
5824	PEX19	Multicystic kidney dysplasia	HP:0000003
5824	PEX19	Wide anterior fontanel	HP:0000260
5824	PEX19	Cataract	HP:0000518
5824	PEX19	Autosomal recessive inheritance	HP:0000007
5824	PEX19	Generalized hypotonia	HP:0001290
5824	PEX19	Cranial asymmetry	HP:0000267
5824	PEX19	Cerebral atrophy	HP:0002059
5824	PEX19	Dolichocephaly	HP:0000268
5824	PEX19	Primary adrenal insufficiency	HP:0008207
5824	PEX19	Abnormal chorioretinal morphology	HP:0000532
5824	PEX19	Corneal opacity	HP:0007957
5824	PEX19	Decreased fetal movement	HP:0001558
5824	PEX19	Abnormality of retinal pigmentation	HP:0007703
5824	PEX19	Cryptorchidism	HP:0000028
5824	PEX19	Epicanthus	HP:0000286
5824	PEX19	Abnormal cortical bone morphology	HP:0003103
5824	PEX19	Reduced tendon reflexes	HP:0001315
5824	PEX19	Abnormality of epiphysis morphology	HP:0005930
5824	PEX19	Respiratory insufficiency	HP:0002093
5824	PEX19	Hypospadias	HP:0000047
5824	PEX19	EEG abnormality	HP:0002353
5824	PEX19	Cholelithiasis	HP:0001081
5824	PEX19	Brushfield spots	HP:0001088
5824	PEX19	Hyperreflexia	HP:0001347
5824	PEX19	Triangular face	HP:0000325
5824	PEX19	Upslanted palpebral fissure	HP:0000582
5824	PEX19	Developmental regression	HP:0002376
5824	PEX19	Elevated levels of phytanic acid	HP:0010571
5824	PEX19	Polymicrogyria	HP:0002126
5824	PEX19	Scaphocephaly	HP:0030799
5824	PEX19	Flat face	HP:0012368
5824	PEX19	Severe global developmental delay	HP:0011344
5824	PEX19	Abnormality of the hairline	HP:0009553
5824	PEX19	Premature birth	HP:0001622
5824	PEX19	Hyperbilirubinemia	HP:0002904
5824	PEX19	Micrognathia	HP:0000347
5824	PEX19	Skeletal dysplasia	HP:0002652
5824	PEX19	High forehead	HP:0000348
5824	PEX19	Ventricular septal defect	HP:0001629
5824	PEX19	Flat occiput	HP:0005469
5824	PEX19	Elevated hepatic transaminase	HP:0002910
5824	PEX19	Atrial septal defect	HP:0001631
5824	PEX19	Cardiomyopathy	HP:0001638
5824	PEX19	Patent ductus arteriosus	HP:0001643
5824	PEX19	Constriction of peripheral visual field	HP:0001133
5824	PEX19	Low-set, posteriorly rotated ears	HP:0000368
5824	PEX19	Abnormality of the liver	HP:0001392
5824	PEX19	Posterior embryotoxon	HP:0000627
5824	PEX19	Periorbital fullness	HP:0000629
5824	PEX19	Hepatic failure	HP:0001399
5824	PEX19	External ear malformation	HP:0008572
5824	PEX19	Renal tubular dysfunction	HP:0000124
5824	PEX19	Hydronephrosis	HP:0000126
5824	PEX19	Nystagmus	HP:0000639
5824	PEX19	Elevated circulating long chain fatty acid concentration	HP:0003455
5824	PEX19	Ichthyosis	HP:0008064
5824	PEX19	Facial palsy	HP:0010628
5824	PEX19	Central hypotonia	HP:0011398
5824	PEX19	Optic atrophy	HP:0000648
5824	PEX19	Abnormality of coagulation	HP:0001928
5824	PEX19	CNS demyelination	HP:0007305
5824	PEX19	Abnormality of metabolism/homeostasis	HP:0001939
5824	PEX19	Nyctalopia	HP:0000662
5824	PEX19	Sensorineural hearing impairment	HP:0000407
5824	PEX19	Arrhythmia	HP:0011675
5824	PEX19	Abnormality of the tongue	HP:0000157
5824	PEX19	Epiphyseal stippling	HP:0010655
5824	PEX19	Depressed nasal bridge	HP:0005280
5824	PEX19	Underdeveloped supraorbital ridges	HP:0009891
5824	PEX19	Feeding difficulties in infancy	HP:0008872
5824	PEX19	Severe muscular hypotonia	HP:0006829
5824	PEX19	Abnormal palate morphology	HP:0000174
5824	PEX19	Bilateral single transverse palmar creases	HP:0007598
5824	PEX19	Wide nasal bridge	HP:0000431
5824	PEX19	Double outlet right ventricle	HP:0001719
5824	PEX19	Jaundice	HP:0000952
5824	PEX19	Cognitive impairment	HP:0100543
5824	PEX19	Profound global developmental delay	HP:0012736
5824	PEX19	Hepatomegaly	HP:0002240
5824	PEX19	Prominent nose	HP:0000448
5824	PEX19	Behavioral abnormality	HP:0000708
5824	PEX19	Delayed closure of the anterior fontanelle	HP:0001476
5824	PEX19	Anteverted nares	HP:0000463
5824	PEX19	Clitoral hypertrophy	HP:0008665
5824	PEX19	Thickened nuchal skin fold	HP:0000474
5824	PEX19	High palate	HP:0000218
5824	PEX19	Abnormality of the male genitalia	HP:0010461
5824	PEX19	Abnormality of neuronal migration	HP:0002269
5824	PEX19	Seizures	HP:0001250
5824	PEX19	Short stature	HP:0004322
5824	PEX19	Ataxia	HP:0001251
5824	PEX19	Failure to thrive	HP:0001508
5824	PEX19	Muscular hypotonia	HP:0001252
5824	PEX19	Pyloric stenosis	HP:0002021
5824	PEX19	Decreased body weight	HP:0004325
5824	PEX19	Growth delay	HP:0001510
5824	PEX19	Strabismus	HP:0000486
5824	PEX19	Very long chain fatty acid accumulation	HP:0008167
5824	PEX19	Malabsorption	HP:0002024
5824	PEX19	Spasticity	HP:0001257
5824	PEX19	Hydrocephalus	HP:0000238
5824	PEX19	Global developmental delay	HP:0001263
5824	PEX19	Death in infancy	HP:0001522
5824	PEX19	Glaucoma	HP:0000501
5824	PEX19	Visual impairment	HP:0000505
5824	PEX19	Progressive muscle weakness	HP:0003323
5824	PEX19	Microcephaly	HP:0000252
5824	PEX19	Ptosis	HP:0000508
5824	PEX19	Rod-cone dystrophy	HP:0000510
54977	SLC25A38	Increased serum ferritin	HP:0003281
54977	SLC25A38	Heterogeneous	HP:0001425
54977	SLC25A38	Autosomal recessive inheritance	HP:0000007
54977	SLC25A38	Hypochromia	HP:0032231
54977	SLC25A38	Infantile onset	HP:0003593
54977	SLC25A38	Decreased mean corpuscular volume	HP:0025066
5825	ABCD3	Splenomegaly	HP:0001744
5825	ABCD3	Hepatomegaly	HP:0002240
5825	ABCD3	Iron deficiency anemia	HP:0001891
5825	ABCD3	Hepatic fibrosis	HP:0001395
5825	ABCD3	Autosomal recessive inheritance	HP:0000007
5825	ABCD3	Hepatic failure	HP:0001399
5825	ABCD3	Jaundice	HP:0000952
5825	ABCD3	Infantile onset	HP:0003593
5825	ABCD3	Progressive	HP:0003676
5825	ABCD3	Elevated hepatic transaminase	HP:0002910
5826	ABCD4	Feeding difficulties	HP:0011968
5826	ABCD4	Decreased methionine synthase activity	HP:0003524
5826	ABCD4	Autosomal recessive inheritance	HP:0000007
5826	ABCD4	Decreased adenosylcobalamin	HP:0003145
5826	ABCD4	Generalized hypotonia	HP:0001290
5826	ABCD4	Cerebral atrophy	HP:0002059
5826	ABCD4	Coarctation of aorta	HP:0001680
5826	ABCD4	Thrombocytopenia	HP:0001873
5826	ABCD4	Wide intermamillary distance	HP:0006610
5826	ABCD4	Neutropenia	HP:0001875
5826	ABCD4	Decreased methylcobalamin	HP:0003223
5826	ABCD4	Inguinal hernia	HP:0000023
5826	ABCD4	Methylmalonic aciduria	HP:0012120
5826	ABCD4	Micrognathia	HP:0000347
5826	ABCD4	Cryptorchidism	HP:0000028
5826	ABCD4	Atrial septal defect	HP:0001631
5826	ABCD4	Methylmalonic acidemia	HP:0002912
5826	ABCD4	Gastroesophageal reflux	HP:0002020
5826	ABCD4	Abnormal posturing	HP:0002533
5826	ABCD4	Tachypnea	HP:0002789
5826	ABCD4	Growth delay	HP:0001510
5826	ABCD4	Lethargy	HP:0001254
5826	ABCD4	Pulmonary arterial hypertension	HP:0002092
5826	ABCD4	Homocystinuria	HP:0002156
5826	ABCD4	Anemia	HP:0001903
5826	ABCD4	Global developmental delay	HP:0001263
5826	ABCD4	Hyperhomocystinemia	HP:0002160
5826	ABCD4	Congenital onset	HP:0003577
5826	ABCD4	Hypertelorism	HP:0000316
5828	PEX2	Macrocephaly	HP:0000256
5828	PEX2	Slow saccadic eye movements	HP:0000514
5828	PEX2	Multicystic kidney dysplasia	HP:0000003
5828	PEX2	Wide anterior fontanel	HP:0000260
5828	PEX2	Areflexia	HP:0001284
5828	PEX2	Cataract	HP:0000518
5828	PEX2	Autosomal recessive inheritance	HP:0000007
5828	PEX2	Generalized hypotonia	HP:0001290
5828	PEX2	Dolichocephaly	HP:0000268
5828	PEX2	Unsteady gait	HP:0002317
5828	PEX2	Primary adrenal insufficiency	HP:0008207
5828	PEX2	Abnormal chorioretinal morphology	HP:0000532
5828	PEX2	Corneal opacity	HP:0007957
5828	PEX2	Abnormality of retinal pigmentation	HP:0007703
5828	PEX2	Cryptorchidism	HP:0000028
5828	PEX2	Epicanthus	HP:0000286
5828	PEX2	Dysmetria	HP:0001310
5828	PEX2	Abnormality of the helix	HP:0011039
5828	PEX2	Reduced tendon reflexes	HP:0001315
5828	PEX2	Neonatal hypotonia	HP:0001319
5828	PEX2	Abnormality of epiphysis morphology	HP:0005930
5828	PEX2	Respiratory insufficiency	HP:0002093
5828	PEX2	Hypospadias	HP:0000047
5828	PEX2	Metatarsus adductus	HP:0001840
5828	PEX2	EEG abnormality	HP:0002353
5828	PEX2	Round face	HP:0000311
5828	PEX2	Tremor	HP:0001337
5828	PEX2	Macrogyria	HP:0007227
5828	PEX2	Hypertelorism	HP:0000316
5828	PEX2	Brushfield spots	HP:0001088
5828	PEX2	Hyperreflexia	HP:0001347
5828	PEX2	Pigmentary retinopathy	HP:0000580
5828	PEX2	Optic nerve dysplasia	HP:0001093
5828	PEX2	Upslanted palpebral fissure	HP:0000582
5828	PEX2	Developmental regression	HP:0002376
5828	PEX2	Elevated levels of phytanic acid	HP:0010571
5828	PEX2	Polymicrogyria	HP:0002126
5828	PEX2	Opacification of the corneal stroma	HP:0007759
5828	PEX2	Flat face	HP:0012368
5828	PEX2	Severe global developmental delay	HP:0011344
5828	PEX2	Premature birth	HP:0001622
5828	PEX2	Difficulty running	HP:0009046
5828	PEX2	Micrognathia	HP:0000347
5828	PEX2	Abnormal heart morphology	HP:0001627
5828	PEX2	Skeletal dysplasia	HP:0002652
5828	PEX2	High forehead	HP:0000348
5828	PEX2	Ventricular septal defect	HP:0001629
5828	PEX2	Flat occiput	HP:0005469
5828	PEX2	Slow progression	HP:0003677
5828	PEX2	Camptodactyly	HP:0012385
5828	PEX2	Cardiomyopathy	HP:0001638
5828	PEX2	Constriction of peripheral visual field	HP:0001133
5828	PEX2	Low-set, posteriorly rotated ears	HP:0000368
5828	PEX2	Abnormality of the liver	HP:0001392
5828	PEX2	Low-set ears	HP:0000369
5828	PEX2	Posterior embryotoxon	HP:0000627
5828	PEX2	Hepatic failure	HP:0001399
5828	PEX2	Intrahepatic biliary dysgenesis	HP:0001401
5828	PEX2	External ear malformation	HP:0008572
5828	PEX2	Hydronephrosis	HP:0000126
5828	PEX2	Renal cortical microcysts	HP:0004734
5828	PEX2	Nystagmus	HP:0000639
5828	PEX2	Ichthyosis	HP:0008064
5828	PEX2	Decreased liver function	HP:0001410
5828	PEX2	Facial palsy	HP:0010628
5828	PEX2	Optic atrophy	HP:0000648
5828	PEX2	Abnormality of coagulation	HP:0001928
5828	PEX2	Oculomotor apraxia	HP:0000657
5828	PEX2	Abnormality of metabolism/homeostasis	HP:0001939
5828	PEX2	Nyctalopia	HP:0000662
5828	PEX2	Sensorineural hearing impairment	HP:0000407
5828	PEX2	Cubitus valgus	HP:0002967
5828	PEX2	Hepatosplenomegaly	HP:0001433
5828	PEX2	Arrhythmia	HP:0011675
5828	PEX2	Abnormality of the tongue	HP:0000157
5828	PEX2	Epiphyseal stippling	HP:0010655
5828	PEX2	Depressed nasal bridge	HP:0005280
5828	PEX2	Underdeveloped supraorbital ridges	HP:0009891
5828	PEX2	Feeding difficulties in infancy	HP:0008872
5828	PEX2	Severe muscular hypotonia	HP:0006829
5828	PEX2	Abnormal palate morphology	HP:0000174
5828	PEX2	Bilateral single transverse palmar creases	HP:0007598
5828	PEX2	Wide nasal bridge	HP:0000431
5828	PEX2	Cleft palate	HP:0000175
5828	PEX2	Jaundice	HP:0000952
5828	PEX2	Single transverse palmar crease	HP:0000954
5828	PEX2	Palpebral edema	HP:0100540
5828	PEX2	Cognitive impairment	HP:0100543
5828	PEX2	Profound global developmental delay	HP:0012736
5828	PEX2	Hepatomegaly	HP:0002240
5828	PEX2	Behavioral abnormality	HP:0000708
5828	PEX2	Stippled chondral calcification	HP:0002764
5828	PEX2	Anteverted nares	HP:0000463
5828	PEX2	Splenomegaly	HP:0001744
5828	PEX2	Clitoral hypertrophy	HP:0008665
5828	PEX2	Thickened nuchal skin fold	HP:0000474
5828	PEX2	High palate	HP:0000218
5828	PEX2	Abnormality of neuronal migration	HP:0002269
5828	PEX2	Pes cavus	HP:0001761
5828	PEX2	Intellectual disability	HP:0001249
5828	PEX2	Seizures	HP:0001250
5828	PEX2	Short stature	HP:0004322
5828	PEX2	Talipes equinovarus	HP:0001762
5828	PEX2	Ataxia	HP:0001251
5828	PEX2	Failure to thrive	HP:0001508
5828	PEX2	Muscular hypotonia	HP:0001252
5828	PEX2	Pyloric stenosis	HP:0002021
5828	PEX2	Strabismus	HP:0000486
5828	PEX2	Very long chain fatty acid accumulation	HP:0008167
5828	PEX2	Intrauterine growth retardation	HP:0001511
5828	PEX2	Generalized neonatal hypotonia	HP:0008935
5828	PEX2	Malabsorption	HP:0002024
5828	PEX2	Spasticity	HP:0001257
5828	PEX2	Dysarthria	HP:0001260
5828	PEX2	Global developmental delay	HP:0001263
5828	PEX2	Large fontanelles	HP:0000239
5828	PEX2	Hyporeflexia	HP:0001265
5828	PEX2	Poor suck	HP:0002033
5828	PEX2	Death in infancy	HP:0001522
5828	PEX2	Variable expressivity	HP:0003828
5828	PEX2	Glaucoma	HP:0000501
5828	PEX2	Cerebellar atrophy	HP:0001272
5828	PEX2	Visual impairment	HP:0000505
5828	PEX2	Progressive muscle weakness	HP:0003323
5828	PEX2	Microcephaly	HP:0000252
5828	PEX2	Ptosis	HP:0000508
5828	PEX2	Rod-cone dystrophy	HP:0000510
5830	PEX5	Macrocephaly	HP:0000256
5830	PEX5	Short femoral neck	HP:0100864
5830	PEX5	Joint contracture of the hand	HP:0009473
5830	PEX5	Multicystic kidney dysplasia	HP:0000003
5830	PEX5	Wide anterior fontanel	HP:0000260
5830	PEX5	Areflexia	HP:0001284
5830	PEX5	Cataract	HP:0000518
5830	PEX5	Turricephaly	HP:0000262
5830	PEX5	Autosomal recessive inheritance	HP:0000007
5830	PEX5	Developmental cataract	HP:0000519
5830	PEX5	Hypoplasia of the thymus	HP:0000778
5830	PEX5	Generalized hypotonia	HP:0001290
5830	PEX5	Dolichocephaly	HP:0000268
5830	PEX5	Primary adrenal insufficiency	HP:0008207
5830	PEX5	Abnormal chorioretinal morphology	HP:0000532
5830	PEX5	Corneal opacity	HP:0007957
5830	PEX5	Abnormality of retinal pigmentation	HP:0007703
5830	PEX5	Aminoaciduria	HP:0003355
5830	PEX5	Cryptorchidism	HP:0000028
5830	PEX5	Epicanthus	HP:0000286
5830	PEX5	Abnormality of the helix	HP:0011039
5830	PEX5	Reduced tendon reflexes	HP:0001315
5830	PEX5	Abnormality of epiphysis morphology	HP:0005930
5830	PEX5	Muscle weakness	HP:0001324
5830	PEX5	Respiratory insufficiency	HP:0002093
5830	PEX5	Hypospadias	HP:0000047
5830	PEX5	Vertical nystagmus	HP:0010544
5830	PEX5	Metatarsus adductus	HP:0001840
5830	PEX5	EEG abnormality	HP:0002353
5830	PEX5	Asthma	HP:0002099
5830	PEX5	Esotropia	HP:0000565
5830	PEX5	Apnea	HP:0002104
5830	PEX5	Hypertelorism	HP:0000316
5830	PEX5	Brushfield spots	HP:0001088
5830	PEX5	Hyperreflexia	HP:0001347
5830	PEX5	Pigmentary retinopathy	HP:0000580
5830	PEX5	Optic nerve dysplasia	HP:0001093
5830	PEX5	Upslanted palpebral fissure	HP:0000582
5830	PEX5	Abnormality of the mitochondrion	HP:0012103
5830	PEX5	Developmental regression	HP:0002376
5830	PEX5	Elevated levels of phytanic acid	HP:0010571
5830	PEX5	Adrenal insufficiency	HP:0000846
5830	PEX5	Polymicrogyria	HP:0002126
5830	PEX5	Opacification of the corneal stroma	HP:0007759
5830	PEX5	Flat face	HP:0012368
5830	PEX5	Severe global developmental delay	HP:0011344
5830	PEX5	Premature birth	HP:0001622
5830	PEX5	Broad-based gait	HP:0002136
5830	PEX5	Micrognathia	HP:0000347
5830	PEX5	Abnormal heart morphology	HP:0001627
5830	PEX5	High forehead	HP:0000348
5830	PEX5	Skeletal dysplasia	HP:0002652
5830	PEX5	Ventricular septal defect	HP:0001629
5830	PEX5	Flat occiput	HP:0005469
5830	PEX5	Camptodactyly	HP:0012385
5830	PEX5	Peripheral neuropathy	HP:0009830
5830	PEX5	Cardiomyopathy	HP:0001638
5830	PEX5	Constriction of peripheral visual field	HP:0001133
5830	PEX5	Intellectual disability, severe	HP:0010864
5830	PEX5	Low-set, posteriorly rotated ears	HP:0000368
5830	PEX5	Abnormality of the liver	HP:0001392
5830	PEX5	Low-set ears	HP:0000369
5830	PEX5	Polycystic kidney dysplasia	HP:0000113
5830	PEX5	Posterior embryotoxon	HP:0000627
5830	PEX5	Generalized amyotrophy	HP:0003700
5830	PEX5	Hepatic failure	HP:0001399
5830	PEX5	Intrahepatic biliary dysgenesis	HP:0001401
5830	PEX5	External ear malformation	HP:0008572
5830	PEX5	Hydronephrosis	HP:0000126
5830	PEX5	Elevated circulating long chain fatty acid concentration	HP:0003455
5830	PEX5	Thoracic scoliosis	HP:0002943
5830	PEX5	Nystagmus	HP:0000639
5830	PEX5	Ichthyosis	HP:0008064
5830	PEX5	Facial palsy	HP:0010628
5830	PEX5	Optic atrophy	HP:0000648
5830	PEX5	Abnormality of coagulation	HP:0001928
5830	PEX5	High, narrow palate	HP:0002705
5830	PEX5	Abnormality of metabolism/homeostasis	HP:0001939
5830	PEX5	Nyctalopia	HP:0000662
5830	PEX5	Sensorineural hearing impairment	HP:0000407
5830	PEX5	Cubitus valgus	HP:0002967
5830	PEX5	Arrhythmia	HP:0011675
5830	PEX5	Abnormality of the tongue	HP:0000157
5830	PEX5	Epiphyseal stippling	HP:0010655
5830	PEX5	Depressed nasal bridge	HP:0005280
5830	PEX5	Underdeveloped supraorbital ridges	HP:0009891
5830	PEX5	Feeding difficulties in infancy	HP:0008872
5830	PEX5	Severe muscular hypotonia	HP:0006829
5830	PEX5	Abnormal palate morphology	HP:0000174
5830	PEX5	Bilateral single transverse palmar creases	HP:0007598
5830	PEX5	Wide nasal bridge	HP:0000431
5830	PEX5	Cleft palate	HP:0000175
5830	PEX5	Sinus tachycardia	HP:0011703
5830	PEX5	Jaundice	HP:0000952
5830	PEX5	Single transverse palmar crease	HP:0000954
5830	PEX5	Palpebral edema	HP:0100540
5830	PEX5	Cognitive impairment	HP:0100543
5830	PEX5	Profound global developmental delay	HP:0012736
5830	PEX5	Hepatomegaly	HP:0002240
5830	PEX5	Behavioral abnormality	HP:0000708
5830	PEX5	Polar cataract	HP:0010696
5830	PEX5	Stippled chondral calcification	HP:0002764
5830	PEX5	Metaphyseal cupping	HP:0003021
5830	PEX5	Anteverted nares	HP:0000463
5830	PEX5	Abnormal facial shape	HP:0001999
5830	PEX5	Metaphyseal irregularity	HP:0003025
5830	PEX5	Prominent forehead	HP:0011220
5830	PEX5	Frontal bossing	HP:0002007
5830	PEX5	Abnormality of cardiovascular system morphology	HP:0030680
5830	PEX5	Clitoral hypertrophy	HP:0008665
5830	PEX5	High palate	HP:0000218
5830	PEX5	Thickened nuchal skin fold	HP:0000474
5830	PEX5	Abnormality of neuronal migration	HP:0002269
5830	PEX5	Intellectual disability	HP:0001249
5830	PEX5	Pes cavus	HP:0001761
5830	PEX5	Seizures	HP:0001250
5830	PEX5	Talipes equinovarus	HP:0001762
5830	PEX5	Short stature	HP:0004322
5830	PEX5	Ataxia	HP:0001251
5830	PEX5	Failure to thrive	HP:0001508
5830	PEX5	Muscular hypotonia	HP:0001252
5830	PEX5	Decreased body weight	HP:0004325
5830	PEX5	Pyloric stenosis	HP:0002021
5830	PEX5	Strabismus	HP:0000486
5830	PEX5	Very long chain fatty acid accumulation	HP:0008167
5830	PEX5	Intrauterine growth retardation	HP:0001511
5830	PEX5	Malabsorption	HP:0002024
5830	PEX5	Spasticity	HP:0001257
5830	PEX5	Death in childhood	HP:0003819
5830	PEX5	Global developmental delay	HP:0001263
5830	PEX5	Large fontanelles	HP:0000239
5830	PEX5	Hyporeflexia	HP:0001265
5830	PEX5	Poor suck	HP:0002033
5830	PEX5	Death in infancy	HP:0001522
5830	PEX5	Glaucoma	HP:0000501
5830	PEX5	Visual impairment	HP:0000505
5830	PEX5	Sensory neuropathy	HP:0000763
5830	PEX5	Progressive muscle weakness	HP:0003323
5830	PEX5	Microcephaly	HP:0000252
5830	PEX5	Coxa vara	HP:0002812
5830	PEX5	Ptosis	HP:0000508
5830	PEX5	Rod-cone dystrophy	HP:0000510
54982	CLN6	Seizures	HP:0001250
54982	CLN6	Retinal degeneration	HP:0000546
54982	CLN6	Ataxia	HP:0001251
54982	CLN6	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003205
54982	CLN6	Autosomal recessive inheritance	HP:0000007
54982	CLN6	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	HP:0003208
54982	CLN6	Granular osmiophilic deposits (GROD) in cells	HP:0003657
54982	CLN6	Cerebral atrophy	HP:0002059
54982	CLN6	Depressivity	HP:0000716
54982	CLN6	Leukoencephalopathy	HP:0002352
54982	CLN6	Progressive visual loss	HP:0000529
54982	CLN6	Dementia	HP:0000726
54982	CLN6	Abnormality of extrapyramidal motor function	HP:0002071
54982	CLN6	Myoclonus	HP:0001336
54982	CLN6	Increased neuronal autofluorescent lipopigment	HP:0002074
54982	CLN6	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003226
54982	CLN6	Motor deterioration	HP:0002333
54982	CLN6	Auditory hallucinations	HP:0008765
54982	CLN6	Adult onset	HP:0003581
54982	CLN6	Abnormal nervous system electrophysiology	HP:0001311
54982	CLN6	Visual hallucinations	HP:0002367
5831	PYCR1	Pectus carinatum	HP:0000768
5831	PYCR1	Sparse hair	HP:0008070
5831	PYCR1	Autosomal recessive inheritance	HP:0000007
5831	PYCR1	Vertebral compression fractures	HP:0002953
5831	PYCR1	Hip dislocation	HP:0002827
5831	PYCR1	Malar flattening	HP:0000272
5831	PYCR1	Inguinal hernia	HP:0000023
5831	PYCR1	Dermal translucency	HP:0010648
5831	PYCR1	Midface retrusion	HP:0011800
5831	PYCR1	Protruding ear	HP:0000411
5831	PYCR1	Cryptorchidism	HP:0000028
5831	PYCR1	Platyspondyly	HP:0000926
5831	PYCR1	Narrow nasal ridge	HP:0000418
5831	PYCR1	Fine hair	HP:0002213
5831	PYCR1	Abnormality of epiphysis morphology	HP:0005930
5831	PYCR1	Osteopenia	HP:0000938
5831	PYCR1	Osteoporosis	HP:0000939
5831	PYCR1	Elbow flexion contracture	HP:0002987
5831	PYCR1	Redundant skin	HP:0001582
5831	PYCR1	Mandibular prognathia	HP:0000303
5831	PYCR1	Severe short stature	HP:0003510
5831	PYCR1	Hernia	HP:0100790
5831	PYCR1	Joint hyperflexibility	HP:0005692
5831	PYCR1	Hypertelorism	HP:0000316
5831	PYCR1	Developmental glaucoma	HP:0001087
5831	PYCR1	Thin skin	HP:0000963
5831	PYCR1	Recurrent fractures	HP:0002757
5831	PYCR1	Blepharophimosis	HP:0000581
5831	PYCR1	Triangular face	HP:0000325
5831	PYCR1	Prematurely aged appearance	HP:0007495
5831	PYCR1	Cutis laxa	HP:0000973
5831	PYCR1	Hyperextensible skin	HP:0000974
5831	PYCR1	Blue sclerae	HP:0000592
5831	PYCR1	Broad forehead	HP:0000337
5831	PYCR1	Prominent forehead	HP:0011220
5831	PYCR1	Bowing of the long bones	HP:0006487
5831	PYCR1	Frontal bossing	HP:0002007
5831	PYCR1	Beaking of vertebral bodies	HP:0004568
5831	PYCR1	Hypotelorism	HP:0000601
5831	PYCR1	Scoliosis	HP:0002650
5831	PYCR1	Talipes	HP:0001883
5831	PYCR1	Congenital hip dislocation	HP:0001374
5831	PYCR1	Excessive wrinkled skin	HP:0007392
5831	PYCR1	Intellectual disability	HP:0001249
5831	PYCR1	Microcornea	HP:0000482
5831	PYCR1	Pes planus	HP:0001763
5831	PYCR1	Muscular hypotonia	HP:0001252
5831	PYCR1	Failure to thrive	HP:0001508
5831	PYCR1	Gastroesophageal reflux	HP:0002020
5831	PYCR1	Posteriorly rotated ears	HP:0000358
5831	PYCR1	Joint hypermobility	HP:0001382
5831	PYCR1	Intrauterine growth retardation	HP:0001511
5831	PYCR1	Intellectual disability, mild	HP:0001256
5831	PYCR1	Thin vermilion border	HP:0000233
5831	PYCR1	Biconcave vertebral bodies	HP:0004586
5831	PYCR1	Deeply set eye	HP:0000490
5831	PYCR1	Delayed speech and language development	HP:0000750
5831	PYCR1	Hydrocephalus	HP:0000238
5831	PYCR1	Downslanted palpebral fissures	HP:0000494
5831	PYCR1	Global developmental delay	HP:0001263
5831	PYCR1	Large fontanelles	HP:0000239
5831	PYCR1	Prominent superficial veins	HP:0001015
5831	PYCR1	Abnormality of vision	HP:0000504
5831	PYCR1	Agenesis of corpus callosum	HP:0001274
5831	PYCR1	Microcephaly	HP:0000252
5832	ALDH18A1	Umbilical hernia	HP:0001537
5832	ALDH18A1	Athetosis	HP:0002305
5832	ALDH18A1	Cataract	HP:0000518
5832	ALDH18A1	Autosomal dominant inheritance	HP:0000006
5832	ALDH18A1	Autosomal recessive inheritance	HP:0000007
5832	ALDH18A1	Developmental cataract	HP:0000519
5832	ALDH18A1	Gait disturbance	HP:0001288
5832	ALDH18A1	Generalized hypotonia	HP:0001290
5832	ALDH18A1	Motor polyneuropathy	HP:0007178
5832	ALDH18A1	Hip dislocation	HP:0002827
5832	ALDH18A1	Urinary urgency	HP:0000012
5832	ALDH18A1	Psychomotor retardation	HP:0025356
5832	ALDH18A1	Lower limb spasticity	HP:0002061
5832	ALDH18A1	Delayed cranial suture closure	HP:0000270
5832	ALDH18A1	Spastic gait	HP:0002064
5832	ALDH18A1	Urinary retention	HP:0000016
5832	ALDH18A1	Urinary incontinence	HP:0000020
5832	ALDH18A1	Corneal opacity	HP:0007957
5832	ALDH18A1	Focal dystonia	HP:0004373
5832	ALDH18A1	Inguinal hernia	HP:0000023
5832	ALDH18A1	Impaired vibration sensation at ankles	HP:0006938
5832	ALDH18A1	Cryptorchidism	HP:0000028
5832	ALDH18A1	Myopia	HP:0000545
5832	ALDH18A1	Abnormal cerebellum morphology	HP:0001317
5832	ALDH18A1	Full cheeks	HP:0000293
5832	ALDH18A1	Progressive neurologic deterioration	HP:0002344
5832	ALDH18A1	Wide cranial sutures	HP:0010537
5832	ALDH18A1	Muscle weakness	HP:0001324
5832	ALDH18A1	Redundant skin	HP:0001582
5832	ALDH18A1	Specific learning disability	HP:0001328
5832	ALDH18A1	Emphysema	HP:0002097
5832	ALDH18A1	Memory impairment	HP:0002354
5832	ALDH18A1	Tremor	HP:0001337
5832	ALDH18A1	Corneal arcus	HP:0001084
5832	ALDH18A1	Hypertelorism	HP:0000316
5832	ALDH18A1	Joint hyperflexibility	HP:0005692
5832	ALDH18A1	Absent speech	HP:0001344
5832	ALDH18A1	Muscle spasm	HP:0003394
5832	ALDH18A1	Hyperreflexia	HP:0001347
5832	ALDH18A1	Loss of speech	HP:0002371
5832	ALDH18A1	Foot dorsiflexor weakness	HP:0009027
5832	ALDH18A1	Brisk reflexes	HP:0001348
5832	ALDH18A1	Triangular face	HP:0000325
5832	ALDH18A1	Premature skin wrinkling	HP:0100678
5832	ALDH18A1	Cerebral cortical atrophy	HP:0002120
5832	ALDH18A1	Progressive gait ataxia	HP:0007240
5832	ALDH18A1	Aortic aneurysm	HP:0004942
5832	ALDH18A1	Abnormal upper motor neuron morphology	HP:0002127
5832	ALDH18A1	Abnormality of pain sensation	HP:0010832
5832	ALDH18A1	Broad forehead	HP:0000337
5832	ALDH18A1	Abnormality of pelvic girdle bone morphology	HP:0002644
5832	ALDH18A1	Wormian bones	HP:0002645
5832	ALDH18A1	Impaired continence	HP:0031064
5832	ALDH18A1	Hypotelorism	HP:0000601
5832	ALDH18A1	Scoliosis	HP:0002650
5832	ALDH18A1	Lower limb hyperreflexia	HP:0002395
5832	ALDH18A1	Low back pain	HP:0003419
5832	ALDH18A1	Progressive	HP:0003676
5832	ALDH18A1	Slow progression	HP:0003677
5832	ALDH18A1	Congenital hip dislocation	HP:0001374
5832	ALDH18A1	Joint hypermobility	HP:0001382
5832	ALDH18A1	Bowel diverticulosis	HP:0005222
5832	ALDH18A1	Pulmonic stenosis	HP:0001642
5832	ALDH18A1	Absent Achilles reflex	HP:0003438
5832	ALDH18A1	Pseudobulbar paralysis	HP:0007024
5832	ALDH18A1	Low-set ears	HP:0000369
5832	ALDH18A1	Generalized amyotrophy	HP:0003700
5832	ALDH18A1	Mitral regurgitation	HP:0001653
5832	ALDH18A1	Small foramen magnum	HP:0002677
5832	ALDH18A1	Impaired vibration sensation in the lower limbs	HP:0002166
5832	ALDH18A1	Abnormal heart valve morphology	HP:0001654
5832	ALDH18A1	Anarthria	HP:0002425
5832	ALDH18A1	Unilateral renal agenesis	HP:0000122
5832	ALDH18A1	Aortic regurgitation	HP:0001659
5832	ALDH18A1	Postural instability	HP:0002172
5832	ALDH18A1	Postural tremor	HP:0002174
5832	ALDH18A1	Nystagmus	HP:0000639
5832	ALDH18A1	Skeletal muscle atrophy	HP:0003202
5832	ALDH18A1	Dysfunction of lateral corticospinal tracts	HP:0007299
5832	ALDH18A1	Abnormality of the dorsal column of the spinal cord	HP:0011397
5832	ALDH18A1	Sparse hair	HP:0008070
5832	ALDH18A1	Progressive pes cavus	HP:0008075
5832	ALDH18A1	Tetraplegia	HP:0002445
5832	ALDH18A1	Macrotia	HP:0000400
5832	ALDH18A1	Toe walking	HP:0040083
5832	ALDH18A1	Peripheral axonal neuropathy	HP:0003477
5832	ALDH18A1	Sensorineural hearing impairment	HP:0000407
5832	ALDH18A1	Horizontal nystagmus	HP:0000666
5832	ALDH18A1	Protruding ear	HP:0000411
5832	ALDH18A1	Adducted thumb	HP:0001181
5832	ALDH18A1	Babinski sign	HP:0003487
5832	ALDH18A1	Genetic anticipation	HP:0003743
5832	ALDH18A1	Narrow mouth	HP:0000160
5832	ALDH18A1	Spastic dysarthria	HP:0002464
5832	ALDH18A1	Sporadic	HP:0003745
5832	ALDH18A1	Narrow nasal ridge	HP:0000418
5832	ALDH18A1	Pollakisuria	HP:0100515
5832	ALDH18A1	Osteopenia	HP:0000938
5832	ALDH18A1	Atrophy of the spinal cord	HP:0006827
5832	ALDH18A1	Elbow flexion contracture	HP:0002987
5832	ALDH18A1	Hyperactive patellar reflex	HP:0007083
5832	ALDH18A1	Primitive reflex	HP:0002476
5832	ALDH18A1	Lower limb muscle weakness	HP:0007340
5832	ALDH18A1	Severe short stature	HP:0003510
5832	ALDH18A1	Hyperreflexia in upper limbs	HP:0007350
5832	ALDH18A1	Hernia	HP:0100790
5832	ALDH18A1	Delayed skeletal maturation	HP:0002750
5832	ALDH18A1	Kyphoscoliosis	HP:0002751
5832	ALDH18A1	Impaired vibratory sensation	HP:0002495
5832	ALDH18A1	Feeding difficulties	HP:0011968
5832	ALDH18A1	Thin skin	HP:0000963
5832	ALDH18A1	Psychosis	HP:0000709
5832	ALDH18A1	Progressive inability to walk	HP:0002505
5832	ALDH18A1	Corpus callosum atrophy	HP:0007371
5832	ALDH18A1	Cutis laxa	HP:0000973
5832	ALDH18A1	Hyperextensible skin	HP:0000974
5832	ALDH18A1	Abnormal facial shape	HP:0001999
5832	ALDH18A1	Prominent forehead	HP:0011220
5832	ALDH18A1	Dementia	HP:0000726
5832	ALDH18A1	Abnormality of the periventricular white matter	HP:0002518
5832	ALDH18A1	Frontal bossing	HP:0002007
5832	ALDH18A1	Autistic behavior	HP:0000729
5832	ALDH18A1	Carpal bone hypoplasia	HP:0001498
5832	ALDH18A1	Vomiting	HP:0002013
5832	ALDH18A1	Falls	HP:0002527
5832	ALDH18A1	Intellectual disability	HP:0001249
5832	ALDH18A1	Pes cavus	HP:0001761
5832	ALDH18A1	Prominent superficial blood vessels	HP:0007394
5832	ALDH18A1	Seizures	HP:0001250
5832	ALDH18A1	Talipes equinovarus	HP:0001762
5832	ALDH18A1	Lower limb pain	HP:0012514
5832	ALDH18A1	Short stature	HP:0004322
5832	ALDH18A1	Failure to thrive	HP:0001508
5832	ALDH18A1	Muscular hypotonia	HP:0001252
5832	ALDH18A1	Gastroesophageal reflux	HP:0002020
5832	ALDH18A1	Strabismus	HP:0000486
5832	ALDH18A1	Intrauterine growth retardation	HP:0001511
5832	ALDH18A1	Enlarged cisterna magna	HP:0002280
5832	ALDH18A1	Spasticity	HP:0001257
5832	ALDH18A1	Spastic paraplegia	HP:0001258
5832	ALDH18A1	Dysarthria	HP:0001260
5832	ALDH18A1	Delayed speech and language development	HP:0000750
5832	ALDH18A1	Large fontanelles	HP:0000239
5832	ALDH18A1	Global developmental delay	HP:0001263
5832	ALDH18A1	Lower limb hypertonia	HP:0006895
5832	ALDH18A1	Hiatus hernia	HP:0002036
5832	ALDH18A1	Motor delay	HP:0001270
5832	ALDH18A1	Brachycephaly	HP:0000248
5832	ALDH18A1	Microcephaly	HP:0000252
5832	ALDH18A1	Pectus excavatum	HP:0000767
5836	PYGL	Hepatomegaly	HP:0002240
5836	PYGL	Postnatal growth retardation	HP:0008897
5836	PYGL	Short stature	HP:0004322
5836	PYGL	Hypercholesterolemia	HP:0003124
5836	PYGL	Hyperlipidemia	HP:0003077
5836	PYGL	Hypoglycemia	HP:0001943
5836	PYGL	Autosomal recessive inheritance	HP:0000007
5836	PYGL	Increased hepatic glycogen content	HP:0006568
5836	PYGL	Hypertriglyceridemia	HP:0002155
5836	PYGL	Failure to thrive in infancy	HP:0001531
5836	PYGL	Elevated hepatic transaminase	HP:0002910
5837	PYGM	Myoglobinuria	HP:0002913
5837	PYGM	Renal insufficiency	HP:0000083
5837	PYGM	Elevated serum creatine kinase	HP:0003236
5837	PYGM	Juvenile onset	HP:0003621
5837	PYGM	Exercise-induced rhabdomyolysis	HP:0009045
5837	PYGM	Autosomal recessive inheritance	HP:0000007
5837	PYGM	Abnormality of the cardiovascular system	HP:0001626
5837	PYGM	Exercise-induced myalgia	HP:0003738
5837	PYGM	Muscle weakness	HP:0001324
5837	PYGM	Myopathy	HP:0003198
5837	PYGM	Exercise-induced muscle cramps	HP:0003710
5837	PYGM	Dark urine	HP:0040319
79574	EPS8L3	Coarse hair	HP:0002208
79574	EPS8L3	Sparse scalp hair	HP:0002209
79574	EPS8L3	Sparse or absent eyelashes	HP:0200102
79574	EPS8L3	Aplasia/Hypoplasia of the eyebrow	HP:0100840
79574	EPS8L3	Alopecia	HP:0001596
79577	CDC73	Hypercalcemia	HP:0003072
79577	CDC73	Lipoma	HP:0012032
79577	CDC73	Uterine leiomyoma	HP:0000131
79577	CDC73	Autosomal dominant inheritance	HP:0000006
79577	CDC73	Primary hyperparathyroidism	HP:0008200
79577	CDC73	Headache	HP:0002315
79577	CDC73	Episodic abdominal pain	HP:0002574
79577	CDC73	Nephrolithiasis	HP:0000787
79577	CDC73	Somatic mutation	HP:0001428
79577	CDC73	Weight loss	HP:0001824
79577	CDC73	Testicular neoplasm	HP:0010788
79577	CDC73	Hyperphosphaturia	HP:0003109
79577	CDC73	Chondrocalcinosis	HP:0000934
79577	CDC73	Polydipsia	HP:0001959
79577	CDC73	Osteopenia	HP:0000938
79577	CDC73	Osteoporosis	HP:0000939
79577	CDC73	Muscle weakness	HP:0001324
79577	CDC73	Peptic ulcer	HP:0004398
79577	CDC73	Infantile hypercalcemia	HP:0008250
79577	CDC73	Recurrent pancreatitis	HP:0100027
79577	CDC73	Abdominal symptom	HP:0011458
79577	CDC73	Pancreatitis	HP:0001733
79577	CDC73	Pancreatic adenocarcinoma	HP:0006725
79577	CDC73	Hamartoma	HP:0010566
79577	CDC73	Shortened QT interval	HP:0012232
79577	CDC73	Hoarse voice	HP:0001609
79577	CDC73	Thyroid carcinoma	HP:0002890
79577	CDC73	Hyperparathyroidism	HP:0000843
79577	CDC73	Renal cortical adenoma	HP:0006735
79577	CDC73	Parathyroid adenoma	HP:0002897
79577	CDC73	Renal insufficiency	HP:0000083
79577	CDC73	Fatigue	HP:0012378
79577	CDC73	Mandibular pain	HP:0200025
79577	CDC73	Elevated circulating parathyroid hormone level	HP:0003165
79577	CDC73	Bone pain	HP:0002653
79577	CDC73	Dysphagia	HP:0002015
79577	CDC73	Generalized osteoporosis	HP:0040160
79577	CDC73	Nausea and vomiting	HP:0002017
79577	CDC73	Constipation	HP:0002019
79577	CDC73	Hypophosphatemia	HP:0002148
79577	CDC73	Hypercalciuria	HP:0002150
79577	CDC73	Abnormality of the head	HP:0000234
79577	CDC73	Nephroblastoma	HP:0002667
79577	CDC73	Renal cyst	HP:0000107
79577	CDC73	Papillary renal cell carcinoma	HP:0006766
79577	CDC73	Polycystic kidney dysplasia	HP:0000113
79577	CDC73	Fibroma	HP:0010614
79577	CDC73	Renal hamartoma	HP:0008696
79577	CDC73	Nephrocalcinosis	HP:0000121
79577	CDC73	Parathyroid carcinoma	HP:0006780
79577	CDC73	Hurthle cell thyroid adenoma	HP:0006781
161497	STRC	Nonmotile sperm	HP:0012208
161497	STRC	Male infertility	HP:0003251
161497	STRC	Autosomal dominant inheritance	HP:0000006
161497	STRC	Sensorineural hearing impairment	HP:0000407
161497	STRC	Autosomal recessive inheritance	HP:0000007
161497	STRC	Azoospermia	HP:0000027
161497	STRC	Bilateral sensorineural hearing impairment	HP:0008619
161497	STRC	Abnormal spermatogenesis	HP:0008669
161497	STRC	Oligospermia	HP:0000798
161497	STRC	Reduced sperm motility	HP:0012207
79581	SLC52A2	Skeletal muscle atrophy	HP:0003202
79581	SLC52A2	Gynecomastia	HP:0000771
79581	SLC52A2	Bulbar palsy	HP:0001283
79581	SLC52A2	Facial palsy	HP:0010628
79581	SLC52A2	Areflexia	HP:0001284
79581	SLC52A2	Hypogonadism	HP:0000135
79581	SLC52A2	Autosomal recessive inheritance	HP:0000007
79581	SLC52A2	Optic atrophy	HP:0000648
79581	SLC52A2	Clumsiness	HP:0002312
79581	SLC52A2	Generalized hypotonia	HP:0001290
79581	SLC52A2	Conjunctival telangiectasia	HP:0000524
79581	SLC52A2	Gait ataxia	HP:0002066
79581	SLC52A2	Split hand	HP:0001171
79581	SLC52A2	Sensorineural hearing impairment	HP:0000407
79581	SLC52A2	Progressive cerebellar ataxia	HP:0002073
79581	SLC52A2	Tongue fasciculations	HP:0001308
79581	SLC52A2	Optic disc pallor	HP:0000543
79581	SLC52A2	Spastic dysarthria	HP:0002464
79581	SLC52A2	Sleep apnea	HP:0010535
79581	SLC52A2	Color vision defect	HP:0000551
79581	SLC52A2	Head tremor	HP:0002346
79581	SLC52A2	Abnormal autonomic nervous system physiology	HP:0012332
79581	SLC52A2	Respiratory insufficiency	HP:0002093
79581	SLC52A2	Iris hypopigmentation	HP:0007730
79581	SLC52A2	Difficulty walking	HP:0002355
79581	SLC52A2	Hypertension	HP:0000822
79581	SLC52A2	Myoclonus	HP:0001336
79581	SLC52A2	Tremor	HP:0001337
79581	SLC52A2	Visual loss	HP:0000572
79581	SLC52A2	Kyphoscoliosis	HP:0002751
79581	SLC52A2	Progressive hearing impairment	HP:0001730
79581	SLC52A2	Abnormality of macular pigmentation	HP:0008002
79581	SLC52A2	Hypokinesia	HP:0002375
79581	SLC52A2	Cerebral cortical atrophy	HP:0002120
79581	SLC52A2	Organic aciduria	HP:0001992
79581	SLC52A2	Aggressive behavior	HP:0000718
79581	SLC52A2	Neck muscle weakness	HP:0000467
79581	SLC52A2	Proximal amyotrophy	HP:0007126
79581	SLC52A2	Progressive	HP:0003676
79581	SLC52A2	Dysphagia	HP:0002015
79581	SLC52A2	Spinocerebellar atrophy	HP:0007263
79581	SLC52A2	Intellectual disability	HP:0001249
79581	SLC52A2	Hallucinations	HP:0000738
79581	SLC52A2	Seizures	HP:0001250
79581	SLC52A2	Ataxia	HP:0001251
79581	SLC52A2	Muscular hypotonia	HP:0001252
79581	SLC52A2	Sensorimotor neuropathy	HP:0007141
79581	SLC52A2	Cachexia	HP:0004326
79581	SLC52A2	Diabetes insipidus	HP:0000873
79581	SLC52A2	Limb muscle weakness	HP:0003690
79581	SLC52A2	Blindness	HP:0000618
79581	SLC52A2	Dysarthria	HP:0001260
79581	SLC52A2	Hearing impairment	HP:0000365
79581	SLC52A2	Elevated alpha-fetoprotein	HP:0006254
79581	SLC52A2	Cochlear degeneration	HP:0005102
79581	SLC52A2	Abnormality of eye movement	HP:0000496
79581	SLC52A2	Hyporeflexia	HP:0001265
79581	SLC52A2	Mildly elevated creatine kinase	HP:0008180
79581	SLC52A2	Variable expressivity	HP:0003828
79581	SLC52A2	Generalized amyotrophy	HP:0003700
79581	SLC52A2	Impaired vibration sensation in the lower limbs	HP:0002166
79581	SLC52A2	Visual impairment	HP:0000505
79581	SLC52A2	Sensory neuropathy	HP:0000763
79581	SLC52A2	Ptosis	HP:0000508
79581	SLC52A2	Nystagmus	HP:0000639
55005	RMND1	Feeding difficulties	HP:0011968
55005	RMND1	Hepatomegaly	HP:0002240
55005	RMND1	Absent speech	HP:0001344
55005	RMND1	Decreased liver function	HP:0001410
55005	RMND1	Areflexia	HP:0001284
55005	RMND1	Autosomal recessive inheritance	HP:0000007
55005	RMND1	Cerebral cortical atrophy	HP:0002120
55005	RMND1	Generalized hypotonia	HP:0001290
55005	RMND1	Renal insufficiency	HP:0000083
55005	RMND1	Pachygyria	HP:0001302
55005	RMND1	Renal hypoplasia	HP:0000089
55005	RMND1	Renal tubular acidosis	HP:0001947
55005	RMND1	Tongue fasciculations	HP:0001308
55005	RMND1	Hypoplasia of the corpus callosum	HP:0002079
55005	RMND1	Delayed myelination	HP:0012448
55005	RMND1	Seizures	HP:0001250
55005	RMND1	CNS hypomyelination	HP:0003429
55005	RMND1	Lethargy	HP:0001254
55005	RMND1	Cardiomyopathy	HP:0001638
55005	RMND1	Peripheral neuropathy	HP:0009830
55005	RMND1	Increased serum lactate	HP:0002151
55005	RMND1	Renal cyst	HP:0000107
55005	RMND1	Severe muscular hypotonia	HP:0006829
55005	RMND1	Hearing impairment	HP:0000365
55005	RMND1	Renal dysplasia	HP:0000110
55005	RMND1	Global developmental delay	HP:0001263
55005	RMND1	Hyporeflexia	HP:0001265
55005	RMND1	Death in infancy	HP:0001522
55005	RMND1	Variable expressivity	HP:0003828
55005	RMND1	Hepatic steatosis	HP:0001397
55005	RMND1	Myoclonus	HP:0001336
55005	RMND1	Lactic acidosis	HP:0003128
55005	RMND1	Congenital onset	HP:0003577
55005	RMND1	Increased CSF lactate	HP:0002490
55005	RMND1	Myopathy	HP:0003198
79583	TMEM231	Multicystic kidney dysplasia	HP:0000003
79583	TMEM231	Cataract	HP:0000518
79583	TMEM231	Autosomal recessive inheritance	HP:0000007
79583	TMEM231	Seesaw nystagmus	HP:0012044
79583	TMEM231	Anophthalmia	HP:0000528
79583	TMEM231	Anencephaly	HP:0002323
79583	TMEM231	Abnormal chorioretinal morphology	HP:0000532
79583	TMEM231	Long face	HP:0000276
79583	TMEM231	Dandy-Walker malformation	HP:0001305
79583	TMEM231	Oligohydramnios	HP:0001562
79583	TMEM231	Hamartoma of tongue	HP:0011802
79583	TMEM231	Cryptorchidism	HP:0000028
79583	TMEM231	Encephalocele	HP:0002084
79583	TMEM231	Male pseudohermaphroditism	HP:0000037
79583	TMEM231	Full cheeks	HP:0000293
79583	TMEM231	Occipital encephalocele	HP:0002085
79583	TMEM231	Foot polydactyly	HP:0001829
79583	TMEM231	Postaxial foot polydactyly	HP:0001830
79583	TMEM231	Cerebellar vermis hypoplasia	HP:0001320
79583	TMEM231	Retinal dystrophy	HP:0000556
79583	TMEM231	Respiratory insufficiency	HP:0002093
79583	TMEM231	Cystic liver disease	HP:0006706
79583	TMEM231	Congenital hepatic fibrosis	HP:0002612
79583	TMEM231	Aplasia/Hypoplasia of the tongue	HP:0010295
79583	TMEM231	Chorioretinal coloboma	HP:0000567
79583	TMEM231	Microphthalmia	HP:0000568
79583	TMEM231	Myoclonus	HP:0001336
79583	TMEM231	Apnea	HP:0002104
79583	TMEM231	Hypertelorism	HP:0000316
79583	TMEM231	Absent speech	HP:0001344
79583	TMEM231	Exotropia	HP:0000577
79583	TMEM231	Urethral atresia	HP:0000068
79583	TMEM231	Biparietal narrowing	HP:0004422
79583	TMEM231	Ureteral duplication	HP:0000073
79583	TMEM231	Renal insufficiency	HP:0000083
79583	TMEM231	Sloping forehead	HP:0000340
79583	TMEM231	Bowing of the long bones	HP:0006487
79583	TMEM231	Scoliosis	HP:0002650
79583	TMEM231	Micrognathia	HP:0000347
79583	TMEM231	Talipes	HP:0001883
79583	TMEM231	Abnormality of the hypothalamus-pituitary axis	HP:0000864
79583	TMEM231	Iris coloboma	HP:0000612
79583	TMEM231	Blindness	HP:0000618
79583	TMEM231	Renal cyst	HP:0000107
79583	TMEM231	Short sternum	HP:0000879
79583	TMEM231	Low-set, posteriorly rotated ears	HP:0000368
79583	TMEM231	Intellectual disability, severe	HP:0010864
79583	TMEM231	Nephropathy	HP:0000112
79583	TMEM231	Low-set ears	HP:0000369
79583	TMEM231	Polycystic kidney dysplasia	HP:0000113
79583	TMEM231	Molar tooth sign on MRI	HP:0002419
79583	TMEM231	Aplasia/Hypoplasia of the iris	HP:0008053
79583	TMEM231	Pancreatic fibrosis	HP:0100732
79583	TMEM231	Thoracic kyphosis	HP:0002942
79583	TMEM231	Nystagmus	HP:0000639
79583	TMEM231	Syndactyly	HP:0001159
79583	TMEM231	Sclerocornea	HP:0000647
79583	TMEM231	Optic atrophy	HP:0000648
79583	TMEM231	Hand polydactyly	HP:0001161
79583	TMEM231	Postaxial hand polydactyly	HP:0001162
79583	TMEM231	Irregular dentition	HP:0040079
79583	TMEM231	Oculomotor apraxia	HP:0000657
79583	TMEM231	Preaxial hand polydactyly	HP:0001177
79583	TMEM231	Bulbous nose	HP:0000414
79583	TMEM231	Situs inversus totalis	HP:0001696
79583	TMEM231	Eyelid myoclonias	HP:0011168
79583	TMEM231	Postaxial polydactyly	HP:0100259
79583	TMEM231	Prominent nasal bridge	HP:0000426
79583	TMEM231	Cleft palate	HP:0000175
79583	TMEM231	Lobulated tongue	HP:0000180
79583	TMEM231	Stage 5 chronic kidney disease	HP:0003774
79583	TMEM231	Bifid uvula	HP:0000193
79583	TMEM231	Pancreatic cysts	HP:0001737
79583	TMEM231	Depressed nasal ridge	HP:0000457
79583	TMEM231	Suprasellar arachnoid cyst	HP:0012489
79583	TMEM231	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
79583	TMEM231	Polydactyly	HP:0010442
79583	TMEM231	Aganglionic megacolon	HP:0002251
79583	TMEM231	Aggressive behavior	HP:0000718
79583	TMEM231	Anteverted nares	HP:0000463
79583	TMEM231	Asplenia	HP:0001746
79583	TMEM231	Accessory spleen	HP:0001747
79583	TMEM231	Lobar holoprosencephaly	HP:0006870
79583	TMEM231	Abnormality of cardiovascular system morphology	HP:0030680
79583	TMEM231	Autistic behavior	HP:0000729
79583	TMEM231	True hermaphroditism	HP:0010459
79583	TMEM231	Furrowed tongue	HP:0000221
79583	TMEM231	Abnormality of neuronal migration	HP:0002269
79583	TMEM231	Abnormal retinal morphology	HP:0000479
79583	TMEM231	Intellectual disability	HP:0001249
79583	TMEM231	Microcornea	HP:0000482
79583	TMEM231	Seizures	HP:0001250
79583	TMEM231	Ataxia	HP:0001251
79583	TMEM231	Muscular hypotonia	HP:0001252
79583	TMEM231	Tachypnea	HP:0002789
79583	TMEM231	Self-mutilation	HP:0000742
79583	TMEM231	Strabismus	HP:0000486
79583	TMEM231	Retinopathy	HP:0000488
79583	TMEM231	Spasticity	HP:0001257
79583	TMEM231	Cherry red spot of the macula	HP:0010729
79583	TMEM231	Hydrocephalus	HP:0000238
79583	TMEM231	Global developmental delay	HP:0001263
79583	TMEM231	Congenital onset	HP:0003577
79583	TMEM231	Highly arched eyebrow	HP:0002553
79583	TMEM231	Microcephaly	HP:0000252
79583	TMEM231	Ptosis	HP:0000508
79583	TMEM231	Pectus excavatum	HP:0000767
79587	CARS2	Feeding difficulties	HP:0011968
79587	CARS2	Tetraparesis	HP:0002273
79587	CARS2	Opisthotonus	HP:0002179
79587	CARS2	Areflexia	HP:0001284
79587	CARS2	Failure to thrive	HP:0001508
79587	CARS2	Epileptic encephalopathy	HP:0200134
79587	CARS2	Microvesicular hepatic steatosis	HP:0001414
79587	CARS2	Increased serum lactate	HP:0002151
79587	CARS2	Autosomal recessive inheritance	HP:0000007
79587	CARS2	Cerebellar hypoplasia	HP:0001321
79587	CARS2	Cerebral atrophy	HP:0002059
79587	CARS2	Postnatal microcephaly	HP:0005484
79587	CARS2	Severe muscular hypotonia	HP:0006829
79587	CARS2	Global developmental delay	HP:0001263
79587	CARS2	Dystonia	HP:0001332
79587	CARS2	Status epilepticus	HP:0002133
79587	CARS2	Chorea	HP:0002072
79587	CARS2	Myoclonus	HP:0001336
79587	CARS2	Visual impairment	HP:0000505
79587	CARS2	Multifocal epileptiform discharges	HP:0010841
79587	CARS2	Hypoplasia of the corpus callosum	HP:0002079
5859	QARS	Hyperreflexia	HP:0001347
5859	QARS	CNS hypomyelination	HP:0003429
5859	QARS	Posteriorly rotated ears	HP:0000358
5859	QARS	Ventriculomegaly	HP:0002119
5859	QARS	Cerebellar vermis atrophy	HP:0006855
5859	QARS	Autosomal recessive inheritance	HP:0000007
5859	QARS	Generalized hypotonia	HP:0001290
5859	QARS	Cerebral atrophy	HP:0002059
5859	QARS	Global developmental delay	HP:0001263
5859	QARS	Low-set ears	HP:0000369
5859	QARS	Sloping forehead	HP:0000340
5859	QARS	Narrow forehead	HP:0000341
5859	QARS	Status epilepticus	HP:0002133
5859	QARS	Simplified gyral pattern	HP:0009879
5859	QARS	Hypotelorism	HP:0000601
5859	QARS	Progressive	HP:0003676
5859	QARS	Microcephaly	HP:0000252
5859	QARS	Progressive microcephaly	HP:0000253
5859	QARS	Epicanthus	HP:0000286
5859	QARS	Hypoplasia of the corpus callosum	HP:0002079
5860	QDPR	Intellectual disability	HP:0001249
5860	QDPR	Irritability	HP:0000737
5860	QDPR	Seizures	HP:0001250
5860	QDPR	Recurrent fever	HP:0001954
5860	QDPR	Muscular hypotonia	HP:0001252
5860	QDPR	Excessive salivation	HP:0003781
5860	QDPR	Autosomal recessive inheritance	HP:0000007
5860	QDPR	Progressive neurologic deterioration	HP:0002344
5860	QDPR	Infantile onset	HP:0003593
5860	QDPR	Psychomotor retardation	HP:0025356
5860	QDPR	Global developmental delay	HP:0001263
5860	QDPR	Cerebral calcification	HP:0002514
5860	QDPR	Choreoathetosis	HP:0001266
5860	QDPR	Variable expressivity	HP:0003828
5860	QDPR	Dystonia	HP:0001332
5860	QDPR	Myoclonus	HP:0001336
5860	QDPR	Tremor	HP:0001337
5860	QDPR	Hyperphenylalaninemia	HP:0004923
5860	QDPR	Microcephaly	HP:0000252
5860	QDPR	Hypertonia	HP:0001276
5860	QDPR	Dysphagia	HP:0002015
55023	PHIP	Short philtrum	HP:0000322
55023	PHIP	Clinodactyly	HP:0030084
55023	PHIP	Upslanted palpebral fissure	HP:0000582
55023	PHIP	Infantile onset	HP:0003593
55023	PHIP	Aggressive behavior	HP:0000718
55023	PHIP	Anteverted nares	HP:0000463
55023	PHIP	Macrotia	HP:0000400
55023	PHIP	Long philtrum	HP:0000343
55023	PHIP	Synophrys	HP:0000664
55023	PHIP	High palate	HP:0000218
55023	PHIP	Micrognathia	HP:0000347
55023	PHIP	Hypermetropia	HP:0000540
55023	PHIP	High forehead	HP:0000348
55023	PHIP	Epicanthus	HP:0000286
55023	PHIP	Tapered finger	HP:0001182
55023	PHIP	Intellectual disability	HP:0001249
55023	PHIP	Anxiety	HP:0000739
55023	PHIP	Strabismus	HP:0000486
55023	PHIP	Impulsivity	HP:0100710
55023	PHIP	Thin vermilion border	HP:0000233
55023	PHIP	Attention deficit hyperactivity disorder	HP:0007018
55023	PHIP	Global developmental delay	HP:0001263
55023	PHIP	Round face	HP:0000311
55023	PHIP	Short nose	HP:0003196
55023	PHIP	Hypertelorism	HP:0000316
55023	PHIP	Thick eyebrow	HP:0000574
55023	PHIP	Nystagmus	HP:0000639
5873	RAB27A	Hepatomegaly	HP:0002240
5873	RAB27A	Pulmonary infiltrates	HP:0002113
5873	RAB27A	Hyperlipidemia	HP:0003077
5873	RAB27A	Petechiae	HP:0000967
5873	RAB27A	Autosomal recessive inheritance	HP:0000007
5873	RAB27A	Infantile onset	HP:0003593
5873	RAB27A	Splenomegaly	HP:0001744
5873	RAB27A	Neutropenia	HP:0001875
5873	RAB27A	Partial albinism	HP:0007443
5873	RAB27A	Pancytopenia	HP:0001876
5873	RAB27A	Fever	HP:0001945
5873	RAB27A	Lymphadenopathy	HP:0002716
5873	RAB27A	Reduced delayed hypersensitivity	HP:0002972
5873	RAB27A	Recurrent bacterial infections	HP:0002718
5873	RAB27A	Hypopigmentation of hair	HP:0005599
5873	RAB27A	Immunodeficiency	HP:0002721
5873	RAB27A	Nausea and vomiting	HP:0002017
5873	RAB27A	Seizures	HP:0001250
5873	RAB27A	Abnormal cerebellum morphology	HP:0001317
5873	RAB27A	Premature graying of hair	HP:0002216
5873	RAB27A	Progressive neurologic deterioration	HP:0002344
5873	RAB27A	Spasticity	HP:0001257
5873	RAB27A	Silver-gray hair	HP:0002218
5873	RAB27A	Death in childhood	HP:0003819
5873	RAB27A	Melanin pigment aggregation in hair shafts	HP:0002220
5873	RAB27A	Accumulation of melanosomes in melanocytes	HP:0001008
5873	RAB27A	Iris hypopigmentation	HP:0007730
5873	RAB27A	Hypopigmentation of the skin	HP:0001010
5873	RAB27A	Jaundice	HP:0000952
5873	RAB27A	Hypertonia	HP:0001276
5873	RAB27A	Hemophagocytosis	HP:0012156
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	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
79600	TCTN1	Oral cleft	HP:0000202
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	Pachygyria	HP:0001302
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	Muscular hypotonia	HP:0001252
79600	TCTN1	Encephalocele	HP:0002084
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	Molar tooth sign on MRI	HP:0002419
79600	TCTN1	Apnea	HP:0002104
79600	TCTN1	Highly arched eyebrow	HP:0002553
79600	TCTN1	Tremor	HP:0001337
79600	TCTN1	Ptosis	HP:0000508
79600	TCTN1	Episodic tachypnea	HP:0002876
79600	TCTN1	Nystagmus	HP:0000639
5879	RAC1	Absent speech	HP:0001344
5879	RAC1	Macrocephaly	HP:0000256
5879	RAC1	Behavioral abnormality	HP:0000708
5879	RAC1	Autosomal dominant inheritance	HP:0000006
5879	RAC1	Generalized hypotonia	HP:0001290
5879	RAC1	Polymicrogyria	HP:0002126
5879	RAC1	Abnormal facial shape	HP:0001999
5879	RAC1	Anteverted nares	HP:0000463
5879	RAC1	Dysgenesis of the cerebellar vermis	HP:0002195
5879	RAC1	Dilated fourth ventricle	HP:0002198
5879	RAC1	Sensorineural hearing impairment	HP:0000407
5879	RAC1	Stereotypy	HP:0000733
5879	RAC1	Hypoplasia of the corpus callosum	HP:0002079
5879	RAC1	Intellectual disability	HP:0001249
5879	RAC1	Seizures	HP:0001250
5879	RAC1	Muscular hypotonia	HP:0001252
5879	RAC1	Low hanging columella	HP:0009765
5879	RAC1	Feeding difficulties in infancy	HP:0008872
5879	RAC1	Enlarged cisterna magna	HP:0002280
5879	RAC1	Cerebellar vermis hypoplasia	HP:0001320
5879	RAC1	Cerebellar hypoplasia	HP:0001321
5879	RAC1	Prominent nasal bridge	HP:0000426
5879	RAC1	Dilation of lateral ventricles	HP:0006956
5879	RAC1	Low-set ears	HP:0000369
5879	RAC1	Abnormality of the pinna	HP:0000377
5879	RAC1	Highly arched eyebrow	HP:0002553
5879	RAC1	Cerebellar dysplasia	HP:0007033
5879	RAC1	Microcephaly	HP:0000252
5879	RAC1	Long palpebral fissure	HP:0000637
284403	WDR62	Hyperreflexia	HP:0001347
284403	WDR62	Spastic tetraparesis	HP:0001285
284403	WDR62	Upslanted palpebral fissure	HP:0000582
284403	WDR62	Autosomal recessive inheritance	HP:0000007
284403	WDR62	Ventriculomegaly	HP:0002119
284403	WDR62	Schizencephaly	HP:0010636
284403	WDR62	Vesicoureteral reflux	HP:0000076
284403	WDR62	Aggressive behavior	HP:0000718
284403	WDR62	Polymicrogyria	HP:0002126
284403	WDR62	Sloping forehead	HP:0000340
284403	WDR62	Pachygyria	HP:0001302
284403	WDR62	Decreased fetal movement	HP:0001558
284403	WDR62	Simplified gyral pattern	HP:0009879
284403	WDR62	Thin upper lip vermilion	HP:0000219
284403	WDR62	Hypoplasia of the corpus callosum	HP:0002079
284403	WDR62	Abnormal cortical bone morphology	HP:0003103
284403	WDR62	Intellectual disability	HP:0001249
284403	WDR62	Seizures	HP:0001250
284403	WDR62	Short stature	HP:0004322
284403	WDR62	Hypoplasia of the frontal lobes	HP:0007333
284403	WDR62	Impulsivity	HP:0100710
284403	WDR62	Gray matter heterotopia	HP:0002282
284403	WDR62	Delayed speech and language development	HP:0000750
284403	WDR62	Global developmental delay	HP:0001263
284403	WDR62	Hyperactivity	HP:0000752
284403	WDR62	Intellectual disability, severe	HP:0010864
284403	WDR62	Hemiparesis	HP:0001269
284403	WDR62	Congenital onset	HP:0003577
284403	WDR62	Unilateral renal agenesis	HP:0000122
284403	WDR62	Agenesis of corpus callosum	HP:0001274
284403	WDR62	Microcephaly	HP:0000252
5880	RAC2	Immunodeficiency	HP:0002721
5880	RAC2	Poor wound healing	HP:0001058
5880	RAC2	Impaired oxidative burst	HP:0003203
5880	RAC2	Abnormality of neutrophil physiology	HP:0011990
5880	RAC2	Leukocytosis	HP:0001974
5880	RAC2	Reduction of neutrophil motility	HP:0005400
5880	RAC2	Rectal abscess	HP:0005224
5880	RAC2	Neutrophilia	HP:0011897
5880	RAC2	Urachal cyst	HP:0012618
55033	FKBP14	Umbilical hernia	HP:0001537
55033	FKBP14	Skeletal muscle atrophy	HP:0003202
55033	FKBP14	Autosomal recessive inheritance	HP:0000007
55033	FKBP14	Atlantoaxial instability	HP:0003467
55033	FKBP14	Hyperextensible skin	HP:0000974
55033	FKBP14	Follicular hyperkeratosis	HP:0007502
55033	FKBP14	Bladder diverticulum	HP:0000015
55033	FKBP14	Soft skin	HP:0000977
55033	FKBP14	Bruising susceptibility	HP:0000978
55033	FKBP14	Inguinal hernia	HP:0000023
55033	FKBP14	Sensorineural hearing impairment	HP:0000407
55033	FKBP14	Mixed hearing impairment	HP:0000410
55033	FKBP14	High-frequency sensorineural hearing impairment	HP:0001757
55033	FKBP14	Aortic rupture	HP:0031649
55033	FKBP14	Myopia	HP:0000545
55033	FKBP14	Talipes equinovarus	HP:0001762
55033	FKBP14	Microcornea	HP:0000482
55033	FKBP14	Pes planus	HP:0001763
55033	FKBP14	Muscular hypotonia	HP:0001252
55033	FKBP14	Elevated serum creatine kinase	HP:0003236
55033	FKBP14	Joint hypermobility	HP:0001382
55033	FKBP14	Osteopenia	HP:0000938
55033	FKBP14	Patent ductus arteriosus	HP:0001643
55033	FKBP14	Severe muscular hypotonia	HP:0006829
55033	FKBP14	Disproportionate tall stature	HP:0001519
55033	FKBP14	Atrophic scars	HP:0001075
55033	FKBP14	Poor head control	HP:0002421
55033	FKBP14	Motor delay	HP:0001270
55033	FKBP14	Hernia	HP:0100790
55033	FKBP14	Cleft soft palate	HP:0000185
55033	FKBP14	Arterial rupture	HP:0025019
55033	FKBP14	Easy fatigability	HP:0003388
55033	FKBP14	Myopathy	HP:0003198
55033	FKBP14	Kyphoscoliosis	HP:0002751
55034	MOCOS	Hypouricemia	HP:0003537
55034	MOCOS	Nephrolithiasis	HP:0000787
55034	MOCOS	Renal insufficiency	HP:0000083
55034	MOCOS	Autosomal recessive inheritance	HP:0000007
55036	CCDC40	Situs inversus totalis	HP:0001696
55036	CCDC40	Abnormal axonemal organization of respiratory motile cilia	HP:0012258
55036	CCDC40	Recurrent otitis media	HP:0000403
55036	CCDC40	Infertility	HP:0000789
55036	CCDC40	Sinusitis	HP:0000246
55036	CCDC40	Autosomal recessive inheritance	HP:0000007
55036	CCDC40	Ciliary dyskinesia	HP:0012265
55036	CCDC40	Recurrent respiratory infections	HP:0002205
55036	CCDC40	Bronchiectasis	HP:0002110
5885	RAD21	Multicystic kidney dysplasia	HP:0000003
5885	RAD21	Cataract	HP:0000518
5885	RAD21	Intestinal malrotation	HP:0002566
5885	RAD21	Autosomal dominant inheritance	HP:0000006
5885	RAD21	Autosomal recessive inheritance	HP:0000007
5885	RAD21	Congenital diaphragmatic hernia	HP:0000776
5885	RAD21	Hip dislocation	HP:0002827
5885	RAD21	Long eyelashes	HP:0000527
5885	RAD21	Primary amenorrhea	HP:0000786
5885	RAD21	Megaduodenum	HP:0030996
5885	RAD21	Volvulus	HP:0002580
5885	RAD21	Prenatal movement abnormality	HP:0001557
5885	RAD21	Cryptorchidism	HP:0000028
5885	RAD21	Hypoplasia of penis	HP:0008736
5885	RAD21	Myopia	HP:0000545
5885	RAD21	Intestinal pseudo-obstruction	HP:0004389
5885	RAD21	Low anterior hairline	HP:0000294
5885	RAD21	Hypospadias	HP:0000047
5885	RAD21	Short 1st metacarpal	HP:0010034
5885	RAD21	Delayed puberty	HP:0000823
5885	RAD21	Sleep disturbance	HP:0002360
5885	RAD21	Hypoplastic labia majora	HP:0000059
5885	RAD21	Tricuspid regurgitation	HP:0005180
5885	RAD21	Abnormally low-pitched voice	HP:0010300
5885	RAD21	Thick eyebrow	HP:0000574
5885	RAD21	Smooth philtrum	HP:0000319
5885	RAD21	Ventriculomegaly	HP:0002119
5885	RAD21	Cerebral cortical atrophy	HP:0002120
5885	RAD21	Vesicoureteral reflux	HP:0000076
5885	RAD21	Renal insufficiency	HP:0000083
5885	RAD21	Premature birth	HP:0001622
5885	RAD21	Long philtrum	HP:0000343
5885	RAD21	Renal hypoplasia	HP:0000089
5885	RAD21	Micrognathia	HP:0000347
5885	RAD21	Talipes	HP:0001883
5885	RAD21	Ventricular septal defect	HP:0001629
5885	RAD21	Atrial septal defect	HP:0001631
5885	RAD21	Peripheral neuropathy	HP:0009830
5885	RAD21	Hip dysplasia	HP:0001385
5885	RAD21	Pulmonic stenosis	HP:0001642
5885	RAD21	Attention deficit hyperactivity disorder	HP:0007018
5885	RAD21	Joint stiffness	HP:0001387
5885	RAD21	Intellectual disability, severe	HP:0010864
5885	RAD21	Low-set, posteriorly rotated ears	HP:0000368
5885	RAD21	Clinodactyly of the 5th finger	HP:0004209
5885	RAD21	Low posterior hairline	HP:0002162
5885	RAD21	Small hand	HP:0200055
5885	RAD21	Neurological speech impairment	HP:0002167
5885	RAD21	Hemivertebrae	HP:0002937
5885	RAD21	Short nose	HP:0003196
5885	RAD21	Nystagmus	HP:0000639
5885	RAD21	Increased nuchal translucency	HP:0010880
5885	RAD21	Abnormality of the uterus	HP:0000130
5885	RAD21	Brachydactyly	HP:0001156
5885	RAD21	Oligodactyly	HP:0012165
5885	RAD21	Syndactyly	HP:0001159
5885	RAD21	Macrotia	HP:0000400
5885	RAD21	Severe postnatal growth retardation	HP:0008850
5885	RAD21	Conductive hearing impairment	HP:0000405
5885	RAD21	Sensorineural hearing impairment	HP:0000407
5885	RAD21	Proximal placement of thumb	HP:0009623
5885	RAD21	Synophrys	HP:0000664
5885	RAD21	Downturned corners of mouth	HP:0002714
5885	RAD21	Phthisis bulbi	HP:0000667
5885	RAD21	Atresia of the external auditory canal	HP:0000413
5885	RAD21	Radioulnar synostosis	HP:0002974
5885	RAD21	Depressed nasal bridge	HP:0005280
5885	RAD21	Perimembranous ventricular septal defect	HP:0011682
5885	RAD21	Hypoperistalsis	HP:0100771
5885	RAD21	Truncal obesity	HP:0001956
5885	RAD21	Micromelia	HP:0002983
5885	RAD21	Feeding difficulties in infancy	HP:0008872
5885	RAD21	Exostoses	HP:0100777
5885	RAD21	Delayed eruption of teeth	HP:0000684
5885	RAD21	Bilateral single transverse palmar creases	HP:0007598
5885	RAD21	Cleft palate	HP:0000175
5885	RAD21	Widely spaced teeth	HP:0000687
5885	RAD21	Wide nasal bridge	HP:0000431
5885	RAD21	Generalized hirsutism	HP:0002230
5885	RAD21	Delayed skeletal maturation	HP:0002750
5885	RAD21	Aplasia/Hypoplasia of the cerebellum	HP:0007360
5885	RAD21	Cutis marmorata	HP:0000965
5885	RAD21	Choanal atresia	HP:0000453
5885	RAD21	Autism	HP:0000717
5885	RAD21	Anteverted nares	HP:0000463
5885	RAD21	Bilateral ptosis	HP:0001488
5885	RAD21	Obsessive-compulsive behavior	HP:0000722
5885	RAD21	Short neck	HP:0000470
5885	RAD21	High palate	HP:0000218
5885	RAD21	Thin upper lip vermilion	HP:0000219
5885	RAD21	Abnormality of the autonomic nervous system	HP:0002270
5885	RAD21	Elbow dislocation	HP:0003042
5885	RAD21	Microcornea	HP:0000482
5885	RAD21	Short stature	HP:0004322
5885	RAD21	Seizures	HP:0001250
5885	RAD21	Anxiety	HP:0000739
5885	RAD21	Muscular hypotonia	HP:0001252
5885	RAD21	Gastroesophageal reflux	HP:0002020
5885	RAD21	Failure to thrive	HP:0001508
5885	RAD21	Barrett esophagus	HP:0100580
5885	RAD21	Pyloric stenosis	HP:0002021
5885	RAD21	Strabismus	HP:0000486
5885	RAD21	Intrauterine growth retardation	HP:0001511
5885	RAD21	Thin vermilion border	HP:0000233
5885	RAD21	Toe syndactyly	HP:0001770
5885	RAD21	Vertebral clefting	HP:0008428
5885	RAD21	Short foot	HP:0001773
5885	RAD21	Global developmental delay	HP:0001263
5885	RAD21	Curly eyelashes	HP:0007665
5885	RAD21	Blepharitis	HP:0000498
5885	RAD21	Glaucoma	HP:0000501
5885	RAD21	Brachycephaly	HP:0000248
5885	RAD21	Highly arched eyebrow	HP:0002553
5885	RAD21	Hypertonia	HP:0001276
5885	RAD21	Microcephaly	HP:0000252
5885	RAD21	Ptosis	HP:0000508
5885	RAD21	Hypoplastic nipples	HP:0002557
5885	RAD21	Pectus excavatum	HP:0000767
5888	RAD51	Umbilical hernia	HP:0001537
5888	RAD51	Duodenal stenosis	HP:0100867
5888	RAD51	Ovarian neoplasm	HP:0100615
5888	RAD51	Autosomal dominant inheritance	HP:0000006
5888	RAD51	Cataract	HP:0000518
5888	RAD51	Abnormality of femur morphology	HP:0002823
5888	RAD51	Clumsiness	HP:0002312
5888	RAD51	Proptosis	HP:0000520
5888	RAD51	Decreased fertility in males	HP:0012041
5888	RAD51	Recurrent urinary tract infections	HP:0000010
5888	RAD51	Hip dislocation	HP:0002827
5888	RAD51	Dolichocephaly	HP:0000268
5888	RAD51	Dysgenesis of the hippocampus	HP:0025101
5888	RAD51	Tracheoesophageal fistula	HP:0002575
5888	RAD51	Abnormality of the fallopian tube	HP:0011027
5888	RAD51	Oligohydramnios	HP:0001562
5888	RAD51	Azoospermia	HP:0000027
5888	RAD51	Cryptorchidism	HP:0000028
5888	RAD51	Hypopigmented skin patches	HP:0001053
5888	RAD51	Epicanthus	HP:0000286
5888	RAD51	Weight loss	HP:0001824
5888	RAD51	Hypogonadotrophic hypogonadism	HP:0000044
5888	RAD51	Melanoma	HP:0002861
5888	RAD51	Bicornuate uterus	HP:0000813
5888	RAD51	Myelodysplasia	HP:0002863
5888	RAD51	Hypospadias	HP:0000047
5888	RAD51	Specific learning disability	HP:0001328
5888	RAD51	Aplasia/Hypoplasia of the uvula	HP:0010293
5888	RAD51	Bimanual synkinesia	HP:0001335
5888	RAD51	Microphthalmia	HP:0000568
5888	RAD51	Easy fatigability	HP:0003388
5888	RAD51	Hypertelorism	HP:0000316
5888	RAD51	Hyperreflexia	HP:0001347
5888	RAD51	Facial asymmetry	HP:0000324
5888	RAD51	Upslanted palpebral fissure	HP:0000582
5888	RAD51	Ventriculomegaly	HP:0002119
5888	RAD51	Hydroureter	HP:0000072
5888	RAD51	Neoplasm of the pancreas	HP:0002894
5888	RAD51	Thrombocytopenia	HP:0001873
5888	RAD51	Renal insufficiency	HP:0000083
5888	RAD51	Sloping forehead	HP:0000340
5888	RAD51	Scoliosis	HP:0002650
5888	RAD51	Leukopenia	HP:0001882
5888	RAD51	Micrognathia	HP:0000347
5888	RAD51	Prostate cancer	HP:0012125
5888	RAD51	Atrial septal defect	HP:0001631
5888	RAD51	Abnormality of the hypothalamus-pituitary axis	HP:0000864
5888	RAD51	Poor fine motor coordination	HP:0007010
5888	RAD51	Tetralogy of Fallot	HP:0001636
5888	RAD51	Aplasia/Hypoplasia of the radius	HP:0006501
5888	RAD51	Hypertrophic cardiomyopathy	HP:0001639
5888	RAD51	Patent ductus arteriosus	HP:0001643
5888	RAD51	Hearing impairment	HP:0000365
5888	RAD51	Abnormal aortic valve morphology	HP:0001646
5888	RAD51	Spina bifida	HP:0002414
5888	RAD51	Abnormality of the liver	HP:0001392
5888	RAD51	Clinodactyly of the 5th finger	HP:0004209
5888	RAD51	Aplasia/Hypoplasia of the iris	HP:0008053
5888	RAD51	Aplasia/Hypoplasia of fingers	HP:0006265
5888	RAD51	External ear malformation	HP:0008572
5888	RAD51	Nystagmus	HP:0000639
5888	RAD51	Fused cervical vertebrae	HP:0002949
5888	RAD51	Hypogonadism	HP:0000135
5888	RAD51	Multiple cafe-au-lait spots	HP:0007565
5888	RAD51	Abnormal aortic morphology	HP:0001679
5888	RAD51	Pyridoxine-responsive sideroblastic anemia	HP:0005522
5888	RAD51	Abnormality of chromosome stability	HP:0003220
5888	RAD51	Clubbing of toes	HP:0100760
5888	RAD51	Cranial nerve paralysis	HP:0006824
5888	RAD51	Cleft palate	HP:0000175
5888	RAD51	Triphalangeal thumb	HP:0001199
5888	RAD51	Cerebral palsy	HP:0100021
5888	RAD51	Breast carcinoma	HP:0003002
5888	RAD51	Arteriovenous malformation	HP:0100026
5888	RAD51	Abnormality of the corticospinal tract	HP:0002492
5888	RAD51	Abnormal localization of kidney	HP:0100542
5888	RAD51	Almond-shaped palpebral fissure	HP:0007874
5888	RAD51	Meckel diverticulum	HP:0002245
5888	RAD51	Choanal atresia	HP:0000453
5888	RAD51	Primary peritoneal carcinoma	HP:0030406
5888	RAD51	Short palpebral fissure	HP:0012745
5888	RAD51	Aganglionic megacolon	HP:0002251
5888	RAD51	Hypoplasia of the ulna	HP:0003022
5888	RAD51	Finger syndactyly	HP:0006101
5888	RAD51	Frontal bossing	HP:0002007
5888	RAD51	High palate	HP:0000218
5888	RAD51	Abnormal carotid artery morphology	HP:0005344
5888	RAD51	Intellectual disability	HP:0001249
5888	RAD51	Short stature	HP:0004322
5888	RAD51	Pes planus	HP:0001763
5888	RAD51	Astigmatism	HP:0000483
5888	RAD51	Absent testis	HP:0010469
5888	RAD51	Renal hypoplasia/aplasia	HP:0008678
5888	RAD51	Strabismus	HP:0000486
5888	RAD51	Growth delay	HP:0001510
5888	RAD51	Anal atresia	HP:0002023
5888	RAD51	Intrauterine growth retardation	HP:0001511
5888	RAD51	Intellectual disability, mild	HP:0001256
5888	RAD51	Irregular hyperpigmentation	HP:0007400
5888	RAD51	Toe syndactyly	HP:0001770
5888	RAD51	Abnormality of the preputium	HP:0100587
5888	RAD51	Hydrocephalus	HP:0000238
5888	RAD51	Global developmental delay	HP:0001263
5888	RAD51	Incomplete penetrance	HP:0003829
5888	RAD51	Visual impairment	HP:0000505
5888	RAD51	Agenesis of corpus callosum	HP:0001274
5888	RAD51	Microcephaly	HP:0000252
5888	RAD51	Ptosis	HP:0000508
5888	RAD51	Reduced bone mineral density	HP:0004349
5888	RAD51	Myalgia	HP:0003326
5889	RAD51C	Umbilical hernia	HP:0001537
5889	RAD51C	Duodenal stenosis	HP:0100867
5889	RAD51C	Ovarian neoplasm	HP:0100615
5889	RAD51C	Cataract	HP:0000518
5889	RAD51C	Autosomal recessive inheritance	HP:0000007
5889	RAD51C	Abnormality of femur morphology	HP:0002823
5889	RAD51C	Proptosis	HP:0000520
5889	RAD51C	Decreased fertility in males	HP:0012041
5889	RAD51C	Recurrent urinary tract infections	HP:0000010
5889	RAD51C	Hip dislocation	HP:0002827
5889	RAD51C	Dolichocephaly	HP:0000268
5889	RAD51C	Tracheoesophageal fistula	HP:0002575
5889	RAD51C	Abnormality of the fallopian tube	HP:0011027
5889	RAD51C	Oligohydramnios	HP:0001562
5889	RAD51C	Azoospermia	HP:0000027
5889	RAD51C	Cryptorchidism	HP:0000028
5889	RAD51C	Hypopigmented skin patches	HP:0001053
5889	RAD51C	Epicanthus	HP:0000286
5889	RAD51C	Weight loss	HP:0001824
5889	RAD51C	Melanoma	HP:0002861
5889	RAD51C	Bicornuate uterus	HP:0000813
5889	RAD51C	Myelodysplasia	HP:0002863
5889	RAD51C	Hypospadias	HP:0000047
5889	RAD51C	Absent thumb	HP:0009777
5889	RAD51C	Short thumb	HP:0009778
5889	RAD51C	Aplasia/Hypoplasia of the uvula	HP:0010293
5889	RAD51C	Microphthalmia	HP:0000568
5889	RAD51C	Hypertelorism	HP:0000316
5889	RAD51C	Hyperreflexia	HP:0001347
5889	RAD51C	Facial asymmetry	HP:0000324
5889	RAD51C	Upslanted palpebral fissure	HP:0000582
5889	RAD51C	Ventriculomegaly	HP:0002119
5889	RAD51C	Hydroureter	HP:0000072
5889	RAD51C	Neoplasm of the pancreas	HP:0002894
5889	RAD51C	Thrombocytopenia	HP:0001873
5889	RAD51C	Renal insufficiency	HP:0000083
5889	RAD51C	Sloping forehead	HP:0000340
5889	RAD51C	Scoliosis	HP:0002650
5889	RAD51C	Leukopenia	HP:0001882
5889	RAD51C	Abnormal heart morphology	HP:0001627
5889	RAD51C	Micrognathia	HP:0000347
5889	RAD51C	Prostate cancer	HP:0012125
5889	RAD51C	Atrial septal defect	HP:0001631
5889	RAD51C	Abnormality of the hypothalamus-pituitary axis	HP:0000864
5889	RAD51C	Tetralogy of Fallot	HP:0001636
5889	RAD51C	Aplasia/Hypoplasia of the radius	HP:0006501
5889	RAD51C	Hypertrophic cardiomyopathy	HP:0001639
5889	RAD51C	Renal cyst	HP:0000107
5889	RAD51C	Patent ductus arteriosus	HP:0001643
5889	RAD51C	Hearing impairment	HP:0000365
5889	RAD51C	Abnormal aortic valve morphology	HP:0001646
5889	RAD51C	Spina bifida	HP:0002414
5889	RAD51C	Abnormality of the liver	HP:0001392
5889	RAD51C	Clinodactyly of the 5th finger	HP:0004209
5889	RAD51C	Aplasia/Hypoplasia of the iris	HP:0008053
5889	RAD51C	Aplasia/Hypoplasia of fingers	HP:0006265
5889	RAD51C	External ear malformation	HP:0008572
5889	RAD51C	Hydronephrosis	HP:0000126
5889	RAD51C	Nystagmus	HP:0000639
5889	RAD51C	Hypogonadism	HP:0000135
5889	RAD51C	Multiple cafe-au-lait spots	HP:0007565
5889	RAD51C	Abnormal aortic morphology	HP:0001679
5889	RAD51C	Pyridoxine-responsive sideroblastic anemia	HP:0005522
5889	RAD51C	Abnormality of chromosome stability	HP:0003220
5889	RAD51C	Clubbing of toes	HP:0100760
5889	RAD51C	Hypoplasia of the radius	HP:0002984
5889	RAD51C	Cranial nerve paralysis	HP:0006824
5889	RAD51C	External genital hypoplasia	HP:0003241
5889	RAD51C	Cleft palate	HP:0000175
5889	RAD51C	Triphalangeal thumb	HP:0001199
5889	RAD51C	Breast carcinoma	HP:0003002
5889	RAD51C	Arteriovenous malformation	HP:0100026
5889	RAD51C	Stage 5 chronic kidney disease	HP:0003774
5889	RAD51C	Rectal atresia	HP:0025023
5889	RAD51C	Abnormal localization of kidney	HP:0100542
5889	RAD51C	Almond-shaped palpebral fissure	HP:0007874
5889	RAD51C	Meckel diverticulum	HP:0002245
5889	RAD51C	Choanal atresia	HP:0000453
5889	RAD51C	Primary peritoneal carcinoma	HP:0030406
5889	RAD51C	Short palpebral fissure	HP:0012745
5889	RAD51C	Aganglionic megacolon	HP:0002251
5889	RAD51C	Hypoplasia of the ulna	HP:0003022
5889	RAD51C	Finger syndactyly	HP:0006101
5889	RAD51C	Frontal bossing	HP:0002007
5889	RAD51C	High palate	HP:0000218
5889	RAD51C	Abnormal carotid artery morphology	HP:0005344
5889	RAD51C	Intellectual disability	HP:0001249
5889	RAD51C	Short stature	HP:0004322
5889	RAD51C	Pes planus	HP:0001763
5889	RAD51C	Astigmatism	HP:0000483
5889	RAD51C	Absent testis	HP:0010469
5889	RAD51C	Renal hypoplasia/aplasia	HP:0008678
5889	RAD51C	Strabismus	HP:0000486
5889	RAD51C	Anal atresia	HP:0002023
5889	RAD51C	Intrauterine growth retardation	HP:0001511
5889	RAD51C	Irregular hyperpigmentation	HP:0007400
5889	RAD51C	Toe syndactyly	HP:0001770
5889	RAD51C	Abnormality of the preputium	HP:0100587
5889	RAD51C	Hydrocephalus	HP:0000238
5889	RAD51C	Global developmental delay	HP:0001263
5889	RAD51C	Visual impairment	HP:0000505
5889	RAD51C	Microcephaly	HP:0000252
5889	RAD51C	Ptosis	HP:0000508
5889	RAD51C	Reduced bone mineral density	HP:0004349
5892	RAD51D	Abnormality of the fallopian tube	HP:0011027
5892	RAD51D	Ovarian neoplasm	HP:0100615
5892	RAD51D	Primary peritoneal carcinoma	HP:0030406
5892	RAD51D	Breast carcinoma	HP:0003002
5892	RAD51D	Prostate cancer	HP:0012125
5892	RAD51D	Melanoma	HP:0002861
5892	RAD51D	Neoplasm of the pancreas	HP:0002894
79621	RNASEH2B	Myositis	HP:0100614
79621	RNASEH2B	Autosomal recessive inheritance	HP:0000007
79621	RNASEH2B	Spastic paraparesis	HP:0002313
79621	RNASEH2B	Intellectual disability, profound	HP:0002187
79621	RNASEH2B	Headache	HP:0002315
79621	RNASEH2B	Cerebral atrophy	HP:0002059
79621	RNASEH2B	Multifocal cerebral white matter abnormalities	HP:0007052
79621	RNASEH2B	Multiple joint contractures	HP:0002828
79621	RNASEH2B	Autoimmunity	HP:0002960
79621	RNASEH2B	Encephalopathy	HP:0001298
79621	RNASEH2B	Increased serum interferon-gamma level	HP:0030356
79621	RNASEH2B	Hemiplegia/hemiparesis	HP:0004374
79621	RNASEH2B	Hepatosplenomegaly	HP:0001433
79621	RNASEH2B	Brain atrophy	HP:0012444
79621	RNASEH2B	Hypoplasia of the corpus callosum	HP:0002079
79621	RNASEH2B	Raynaud phenomenon	HP:0030880
79621	RNASEH2B	Unexplained fevers	HP:0001955
79621	RNASEH2B	Extrapyramidal muscular rigidity	HP:0007076
79621	RNASEH2B	Acrocyanosis	HP:0001063
79621	RNASEH2B	Chronic lymphatic leukemia	HP:0005550
79621	RNASEH2B	Difficulty walking	HP:0002355
79621	RNASEH2B	Prolonged neonatal jaundice	HP:0006579
79621	RNASEH2B	Diabetes mellitus	HP:0000819
79621	RNASEH2B	Dystonia	HP:0001332
79621	RNASEH2B	Hypothyroidism	HP:0000821
79621	RNASEH2B	Micropenis	HP:0000054
79621	RNASEH2B	Tremor	HP:0001337
79621	RNASEH2B	Moyamoya phenomenon	HP:0011834
79621	RNASEH2B	Dry skin	HP:0000958
79621	RNASEH2B	Developmental glaucoma	HP:0001087
79621	RNASEH2B	Loss of speech	HP:0002371
79621	RNASEH2B	Demyelinating peripheral neuropathy	HP:0007108
79621	RNASEH2B	Cutis marmorata	HP:0000965
79621	RNASEH2B	Ventriculomegaly	HP:0002119
79621	RNASEH2B	Developmental regression	HP:0002376
79621	RNASEH2B	Neonatal alloimmune thrombocytopenia	HP:0004809
79621	RNASEH2B	Hoarse voice	HP:0001609
79621	RNASEH2B	Panniculitis	HP:0012490
79621	RNASEH2B	Degeneration of the striatum	HP:0040140
79621	RNASEH2B	Plagiocephaly	HP:0001357
79621	RNASEH2B	Aortic aneurysm	HP:0004942
79621	RNASEH2B	Spastic tetraplegia	HP:0002510
79621	RNASEH2B	Cerebral calcification	HP:0002514
79621	RNASEH2B	Porencephalic cyst	HP:0002132
79621	RNASEH2B	Enchondroma	HP:0030038
79621	RNASEH2B	Basal ganglia calcification	HP:0002135
79621	RNASEH2B	Abnormal pyramidal sign	HP:0007256
79621	RNASEH2B	Arthritis	HP:0001369
79621	RNASEH2B	Scoliosis	HP:0002650
79621	RNASEH2B	Lymphocytosis	HP:0100827
79621	RNASEH2B	Arrhinencephaly	HP:0002139
79621	RNASEH2B	Elevated hepatic transaminase	HP:0002910
79621	RNASEH2B	Muscle stiffness	HP:0003552
79621	RNASEH2B	Irritability	HP:0000737
79621	RNASEH2B	Short stature	HP:0004322
79621	RNASEH2B	Seizures	HP:0001250
79621	RNASEH2B	Large beaked nose	HP:0003683
79621	RNASEH2B	Calcification of the aorta	HP:0004963
79621	RNASEH2B	Lipoatrophy	HP:0100578
79621	RNASEH2B	Hypertrophic cardiomyopathy	HP:0001639
79621	RNASEH2B	Chronic CSF lymphocytosis	HP:0009704
79621	RNASEH2B	Cardiomegaly	HP:0001640
79621	RNASEH2B	Muscular hypotonia of the trunk	HP:0008936
79621	RNASEH2B	Spastic paraplegia	HP:0001258
79621	RNASEH2B	Increased CSF interferon alpha	HP:0009709
79621	RNASEH2B	Chilblains	HP:0009710
79621	RNASEH2B	Leukodystrophy	HP:0002415
79621	RNASEH2B	Global developmental delay	HP:0001263
79621	RNASEH2B	Low-set ears	HP:0000369
79621	RNASEH2B	Eyelid coloboma	HP:0000625
79621	RNASEH2B	Variable expressivity	HP:0003828
79621	RNASEH2B	Ptosis	HP:0000508
79621	RNASEH2B	Microcephaly	HP:0000252
79621	RNASEH2B	Nystagmus	HP:0000639
5894	RAF1	Macrocephaly	HP:0000256
5894	RAF1	Pectus carinatum	HP:0000768
5894	RAF1	Autosomal dominant inheritance	HP:0000006
5894	RAF1	Proptosis	HP:0000520
5894	RAF1	Dolichocephaly	HP:0000268
5894	RAF1	Enlarged thorax	HP:0100625
5894	RAF1	Midface retrusion	HP:0011800
5894	RAF1	Cryptorchidism	HP:0000028
5894	RAF1	Epicanthus	HP:0000286
5894	RAF1	Atrioventricular canal defect	HP:0006695
5894	RAF1	Hypogonadotrophic hypogonadism	HP:0000044
5894	RAF1	Muscle weakness	HP:0001324
5894	RAF1	Melanoma	HP:0002861
5894	RAF1	Mandibular prognathia	HP:0000303
5894	RAF1	Myelodysplasia	HP:0002863
5894	RAF1	Hypospadias	HP:0000047
5894	RAF1	Abnormal dermatoglyphics	HP:0007477
5894	RAF1	Dilatation	HP:0002617
5894	RAF1	Hypertelorism	HP:0000316
5894	RAF1	Joint hyperflexibility	HP:0005692
5894	RAF1	Abnormality of the pulmonary artery	HP:0004414
5894	RAF1	Pulmonary artery stenosis	HP:0004415
5894	RAF1	Triangular face	HP:0000325
5894	RAF1	Abnormality of the voice	HP:0001608
5894	RAF1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
5894	RAF1	Abnormality of neutrophils	HP:0001874
5894	RAF1	Scoliosis	HP:0002650
5894	RAF1	Micrognathia	HP:0000347
5894	RAF1	High forehead	HP:0000348
5894	RAF1	Abnormal platelet function	HP:0011869
5894	RAF1	Atrial septal defect	HP:0001631
5894	RAF1	Abnormal hair quantity	HP:0011362
5894	RAF1	Mitral valve prolapse	HP:0001634
5894	RAF1	Abnormal bleeding	HP:0001892
5894	RAF1	Hypertrophic cardiomyopathy	HP:0001639
5894	RAF1	Abnormal pulmonary valve morphology	HP:0001641
5894	RAF1	Pulmonic stenosis	HP:0001642
5894	RAF1	Scapular winging	HP:0003691
5894	RAF1	Dilated cardiomyopathy	HP:0001644
5894	RAF1	Low-set, posteriorly rotated ears	HP:0000368
5894	RAF1	Low-set ears	HP:0000369
5894	RAF1	Clinodactyly of the 5th finger	HP:0004209
5894	RAF1	Low posterior hairline	HP:0002162
5894	RAF1	Mitral regurgitation	HP:0001653
5894	RAF1	Aplasia of the semicircular canal	HP:0011381
5894	RAF1	Myocardial infarction	HP:0001658
5894	RAF1	Myopathy	HP:0003198
5894	RAF1	Nystagmus	HP:0000639
5894	RAF1	EMG abnormality	HP:0003457
5894	RAF1	Brachydactyly	HP:0001156
5894	RAF1	Thickened helices	HP:0000391
5894	RAF1	Abnormality of coagulation	HP:0001928
5894	RAF1	Sprengel anomaly	HP:0000912
5894	RAF1	Decreased fertility	HP:0000144
5894	RAF1	Sensorineural hearing impairment	HP:0000407
5894	RAF1	Cubitus valgus	HP:0002967
5894	RAF1	Wide mouth	HP:0000154
5894	RAF1	Arrhythmia	HP:0011675
5894	RAF1	Radioulnar synostosis	HP:0002974
5894	RAF1	Depressed nasal bridge	HP:0005280
5894	RAF1	Coarse hair	HP:0002208
5894	RAF1	Elevated serum creatine kinase	HP:0003236
5894	RAF1	Curly hair	HP:0002212
5894	RAF1	Feeding difficulties in infancy	HP:0008872
5894	RAF1	Wide nasal bridge	HP:0000431
5894	RAF1	Severe sensorineural hearing impairment	HP:0008625
5894	RAF1	Thick lower lip vermilion	HP:0000179
5894	RAF1	Thick vermilion border	HP:0012471
5894	RAF1	Cafe-au-lait spot	HP:0000957
5894	RAF1	Dry skin	HP:0000958
5894	RAF1	Delayed skeletal maturation	HP:0002750
5894	RAF1	Neuroblastoma	HP:0003006
5894	RAF1	Bundle branch block	HP:0011710
5894	RAF1	Abnormal localization of kidney	HP:0100542
5894	RAF1	Hepatomegaly	HP:0002240
5894	RAF1	Freckling	HP:0001480
5894	RAF1	Subcutaneous nodule	HP:0001482
5894	RAF1	Hyperextensible skin	HP:0000974
5894	RAF1	Abnormal facial shape	HP:0001999
5894	RAF1	Abnormality of the spleen	HP:0001743
5894	RAF1	Webbed neck	HP:0000465
5894	RAF1	Wide intermamillary distance	HP:0006610
5894	RAF1	Abnormal endocardium morphology	HP:0004306
5894	RAF1	Prominent forehead	HP:0011220
5894	RAF1	Ventricular arrhythmia	HP:0004308
5894	RAF1	Short neck	HP:0000470
5894	RAF1	Palmoplantar keratoderma	HP:0000982
5894	RAF1	Thickened nuchal skin fold	HP:0000474
5894	RAF1	High palate	HP:0000218
5894	RAF1	Cystic hygroma	HP:0000476
5894	RAF1	Excessive wrinkled skin	HP:0007392
5894	RAF1	Intellectual disability	HP:0001249
5894	RAF1	Short stature	HP:0004322
5894	RAF1	Spina bifida occulta	HP:0003298
5894	RAF1	Lipoatrophy	HP:0100578
5894	RAF1	Melanocytic nevus	HP:0000995
5894	RAF1	Muscular hypotonia	HP:0001252
5894	RAF1	Strabismus	HP:0000486
5894	RAF1	Intrauterine growth retardation	HP:0001511
5894	RAF1	Intellectual disability, mild	HP:0001256
5894	RAF1	Multiple lentigines	HP:0001003
5894	RAF1	Dysarthria	HP:0001260
5894	RAF1	Lymphedema	HP:0001004
5894	RAF1	Downslanted palpebral fissures	HP:0000494
5894	RAF1	Global developmental delay	HP:0001263
5894	RAF1	Brachycephaly	HP:0000248
5894	RAF1	Ptosis	HP:0000508
5894	RAF1	Abnormality of the sternum	HP:0000766
5894	RAF1	Pectus excavatum	HP:0000767
5896	RAG1	Hypoproteinemia	HP:0003075
5896	RAG1	Otitis media	HP:0000388
5896	RAG1	Autosomal recessive inheritance	HP:0000007
5896	RAG1	Meningitis	HP:0001287
5896	RAG1	Mastoiditis	HP:0000265
5896	RAG1	Infantile onset	HP:0003593
5896	RAG1	Hypoplasia of the thymus	HP:0000778
5896	RAG1	Combined immunodeficiency	HP:0005387
5896	RAG1	Recurrent opportunistic infections	HP:0005390
5896	RAG1	Autoimmunity	HP:0002960
5896	RAG1	Recurrent fungal infections	HP:0002841
5896	RAG1	Fever	HP:0001945
5896	RAG1	Decrease in T cell count	HP:0005403
5896	RAG1	Lymphadenopathy	HP:0002716
5896	RAG1	Recurrent respiratory infections	HP:0002205
5896	RAG1	Recurrent bacterial infections	HP:0002718
5896	RAG1	Failure to thrive secondary to recurrent infections	HP:0008866
5896	RAG1	Thyroiditis	HP:0100646
5896	RAG1	Short toe	HP:0001831
5896	RAG1	Pneumonia	HP:0002090
5896	RAG1	Thickened skin	HP:0001072
5896	RAG1	Abnormality of the metaphysis	HP:0000944
5896	RAG1	Hypothyroidism	HP:0000821
5896	RAG1	Alopecia	HP:0001596
5896	RAG1	Dry skin	HP:0000958
5896	RAG1	Hepatomegaly	HP:0002240
5896	RAG1	Panhypogammaglobulinemia	HP:0003139
5896	RAG1	Sepsis	HP:0100806
5896	RAG1	Edema	HP:0000969
5896	RAG1	Recurrent viral infections	HP:0004429
5896	RAG1	Severe combined immunodeficiency	HP:0004430
5896	RAG1	Splenomegaly	HP:0001744
5896	RAG1	Thrombocytopenia	HP:0001873
5896	RAG1	Eosinophilia	HP:0001880
5896	RAG1	Arthritis	HP:0001369
5896	RAG1	Decreased circulating IgG level	HP:0004315
5896	RAG1	Pruritus	HP:0000989
5896	RAG1	Diarrhea	HP:0002014
5896	RAG1	B lymphocytopenia	HP:0010976
5896	RAG1	Autoimmune hemolytic anemia	HP:0001890
5896	RAG1	Failure to thrive	HP:0001508
5896	RAG1	Nephrotic syndrome	HP:0000100
5896	RAG1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
5896	RAG1	Lymphoma	HP:0002665
5896	RAG1	Abnormal lymphocyte morphology	HP:0004332
5896	RAG1	Chronic diarrhea	HP:0002028
5896	RAG1	Anemia	HP:0001903
5896	RAG1	Neutropenia in presence of anti-neutropil antibodies	HP:0001904
5896	RAG1	Interstitial pneumonitis	HP:0006515
5896	RAG1	Severe B lymphocytopenia	HP:0005365
5896	RAG1	Erythroderma	HP:0001019
5896	RAG1	Desquamation of skin soon after birth	HP:0007549
5896	RAG1	Conjunctivitis	HP:0000509
5897	RAG2	Hypoproteinemia	HP:0003075
5897	RAG2	Otitis media	HP:0000388
5897	RAG2	Autosomal recessive inheritance	HP:0000007
5897	RAG2	Meningitis	HP:0001287
5897	RAG2	Mastoiditis	HP:0000265
5897	RAG2	Infantile onset	HP:0003593
5897	RAG2	Hypoplasia of the thymus	HP:0000778
5897	RAG2	Combined immunodeficiency	HP:0005387
5897	RAG2	Recurrent opportunistic infections	HP:0005390
5897	RAG2	Autoimmunity	HP:0002960
5897	RAG2	Recurrent fungal infections	HP:0002841
5897	RAG2	Fever	HP:0001945
5897	RAG2	Decrease in T cell count	HP:0005403
5897	RAG2	Lymphadenopathy	HP:0002716
5897	RAG2	Recurrent respiratory infections	HP:0002205
5897	RAG2	Recurrent bacterial infections	HP:0002718
5897	RAG2	Failure to thrive secondary to recurrent infections	HP:0008866
5897	RAG2	Thyroiditis	HP:0100646
5897	RAG2	Short toe	HP:0001831
5897	RAG2	Pneumonia	HP:0002090
5897	RAG2	Thickened skin	HP:0001072
5897	RAG2	Abnormality of the metaphysis	HP:0000944
5897	RAG2	Hypothyroidism	HP:0000821
5897	RAG2	Alopecia	HP:0001596
5897	RAG2	Dry skin	HP:0000958
5897	RAG2	Hepatomegaly	HP:0002240
5897	RAG2	Panhypogammaglobulinemia	HP:0003139
5897	RAG2	Sepsis	HP:0100806
5897	RAG2	Edema	HP:0000969
5897	RAG2	Recurrent viral infections	HP:0004429
5897	RAG2	Severe combined immunodeficiency	HP:0004430
5897	RAG2	Splenomegaly	HP:0001744
5897	RAG2	Thrombocytopenia	HP:0001873
5897	RAG2	Eosinophilia	HP:0001880
5897	RAG2	Arthritis	HP:0001369
5897	RAG2	Decreased circulating IgG level	HP:0004315
5897	RAG2	Pruritus	HP:0000989
5897	RAG2	Diarrhea	HP:0002014
5897	RAG2	B lymphocytopenia	HP:0010976
5897	RAG2	Failure to thrive	HP:0001508
5897	RAG2	Nephrotic syndrome	HP:0000100
5897	RAG2	Aplasia/Hypoplasia of the eyebrow	HP:0100840
5897	RAG2	Lymphoma	HP:0002665
5897	RAG2	Abnormal lymphocyte morphology	HP:0004332
5897	RAG2	Chronic diarrhea	HP:0002028
5897	RAG2	Anemia	HP:0001903
5897	RAG2	Severe B lymphocytopenia	HP:0005365
5897	RAG2	Erythroderma	HP:0001019
5897	RAG2	Desquamation of skin soon after birth	HP:0007549
5897	RAG2	Conjunctivitis	HP:0000509
79628	SH3TC2	Segmental peripheral demyelination	HP:0007107
79628	SH3TC2	Facial palsy	HP:0010628
79628	SH3TC2	Autosomal dominant inheritance	HP:0000006
79628	SH3TC2	Autosomal recessive inheritance	HP:0000007
79628	SH3TC2	Basal lamina onion bulb formation	HP:0003400
79628	SH3TC2	Abnormal cranial nerve morphology	HP:0001291
79628	SH3TC2	Axonal degeneration	HP:0040078
79628	SH3TC2	Abnormal pupillary light reflex	HP:0007695
79628	SH3TC2	Heterogeneous	HP:0001425
79628	SH3TC2	Peripheral axonal neuropathy	HP:0003477
79628	SH3TC2	Constrictive median neuropathy	HP:0012185
79628	SH3TC2	Scoliosis	HP:0002650
79628	SH3TC2	Upper limb muscle weakness	HP:0003484
79628	SH3TC2	Distal muscle weakness	HP:0002460
79628	SH3TC2	Tongue fasciculations	HP:0001308
79628	SH3TC2	Pes cavus	HP:0001761
79628	SH3TC2	Decreased motor nerve conduction velocity	HP:0003431
79628	SH3TC2	Mononeuropathy	HP:0009831
79628	SH3TC2	Distal amyotrophy	HP:0003693
79628	SH3TC2	Hearing impairment	HP:0000365
79628	SH3TC2	Prolonged brainstem auditory evoked potentials	HP:0004466
79628	SH3TC2	Difficulty walking	HP:0002355
79628	SH3TC2	Motor delay	HP:0001270
79628	SH3TC2	Polyneuropathy	HP:0001271
79628	SH3TC2	Distal sensory impairment	HP:0002936
79628	SH3TC2	Tongue atrophy	HP:0012473
79628	SH3TC2	Decreased number of large peripheral myelinated nerve fibers	HP:0003387
79628	SH3TC2	Peripheral axonal degeneration	HP:0000764
79628	SH3TC2	Nystagmus	HP:0000639
79631	EFL1	Hepatomegaly	HP:0002240
79631	EFL1	Pectus carinatum	HP:0000768
79631	EFL1	Ichthyosis	HP:0008064
79631	EFL1	Laryngomalacia	HP:0001601
79631	EFL1	Short thorax	HP:0010306
79631	EFL1	Eczema	HP:0000964
79631	EFL1	Hyperechogenic pancreas	HP:0006276
79631	EFL1	Subglottic stenosis	HP:0001607
79631	EFL1	Gait disturbance	HP:0001288
79631	EFL1	Acute myeloid leukemia	HP:0004808
79631	EFL1	Metaphyseal widening	HP:0003016
79631	EFL1	Exocrine pancreatic insufficiency	HP:0001738
79631	EFL1	Generalized hypotonia	HP:0001290
79631	EFL1	Steatorrhea	HP:0002570
79631	EFL1	Thrombocytopenia	HP:0001873
79631	EFL1	Metaphyseal irregularity	HP:0003025
79631	EFL1	Neutropenia	HP:0001875
79631	EFL1	Prolonged prothrombin time	HP:0008151
79631	EFL1	Bone marrow hypocellularity	HP:0005528
79631	EFL1	Scoliosis	HP:0002650
79631	EFL1	Genu varum	HP:0002970
79631	EFL1	Carious teeth	HP:0000670
79631	EFL1	Diarrhea	HP:0002014
79631	EFL1	Recurrent infections	HP:0002719
79631	EFL1	Intellectual disability	HP:0001249
79631	EFL1	Short stature	HP:0004322
79631	EFL1	Recurrent aphthous stomatitis	HP:0011107
79631	EFL1	Failure to thrive	HP:0001508
79631	EFL1	Malabsorption	HP:0002024
79631	EFL1	Normocytic anemia	HP:0001897
79631	EFL1	Type I diabetes mellitus	HP:0100651
79631	EFL1	Osteopenia	HP:0000938
79631	EFL1	Myelodysplasia	HP:0002863
79631	EFL1	Anemia	HP:0001903
79631	EFL1	Global developmental delay	HP:0001263
79631	EFL1	Abnormality of the metaphysis	HP:0000944
79631	EFL1	Microdontia	HP:0000691
79631	EFL1	Aplastic anemia	HP:0001915
79631	EFL1	Prolonged partial thromboplastin time	HP:0003645
79631	EFL1	Delayed skeletal maturation	HP:0002750
5903	RANBP2	Intellectual disability	HP:0001249
5903	RANBP2	Seizures	HP:0001250
5903	RANBP2	Cerebral edema	HP:0002181
5903	RANBP2	Abnormality of thalamus morphology	HP:0010663
5903	RANBP2	Gait disturbance	HP:0001288
5903	RANBP2	Developmental regression	HP:0002376
5903	RANBP2	Abnormal pattern of respiration	HP:0002793
5903	RANBP2	Increased CSF protein	HP:0002922
5903	RANBP2	Coma	HP:0001259
5903	RANBP2	Abnormal brainstem MRI signal intensity	HP:0012747
5903	RANBP2	Dysarthria	HP:0001260
5903	RANBP2	Abnormal putamen morphology	HP:0031982
5903	RANBP2	Spastic tetraplegia	HP:0002510
5903	RANBP2	Choroid hemorrhage	HP:0011887
5903	RANBP2	Rigidity	HP:0002063
5903	RANBP2	Fever	HP:0001945
5903	RANBP2	Gliosis	HP:0002171
5903	RANBP2	Generalized muscle weakness	HP:0003324
5903	RANBP2	Abnormal visual fixation	HP:0025404
5903	RANBP2	Vomiting	HP:0002013
5903	RANBP2	Acute encephalopathy	HP:0006846
79633	FAT4	Wide anterior fontanel	HP:0000260
79633	FAT4	Ascites	HP:0001541
79633	FAT4	Narrow chest	HP:0000774
79633	FAT4	Autosomal recessive inheritance	HP:0000007
79633	FAT4	Generalized hypotonia	HP:0001290
79633	FAT4	Malar flattening	HP:0000272
79633	FAT4	Pachygyria	HP:0001302
79633	FAT4	Retrognathia	HP:0000278
79633	FAT4	Midface retrusion	HP:0011800
79633	FAT4	Cryptorchidism	HP:0000028
79633	FAT4	Epicanthus	HP:0000286
79633	FAT4	Hypoplasia of the corpus callosum	HP:0002079
79633	FAT4	Erysipelas	HP:0001055
79633	FAT4	Intestinal lymphangiectasia	HP:0002593
79633	FAT4	Wide cranial sutures	HP:0010537
79633	FAT4	Respiratory insufficiency	HP:0002093
79633	FAT4	Hypospadias	HP:0000047
79633	FAT4	Bifid scrotum	HP:0000048
79633	FAT4	Tented upper lip vermilion	HP:0010804
79633	FAT4	Micropenis	HP:0000054
79633	FAT4	Cutaneous finger syndactyly	HP:0010554
79633	FAT4	Hypertelorism	HP:0000316
79633	FAT4	Short 4th metacarpal	HP:0010044
79633	FAT4	Increased number of teeth	HP:0011069
79633	FAT4	Pericardial lymphangiectasia	HP:0005183
79633	FAT4	Short philtrum	HP:0000322
79633	FAT4	Blepharophimosis	HP:0000581
79633	FAT4	Chylothorax	HP:0010310
79633	FAT4	Hypoplasia of the maxilla	HP:0000327
79633	FAT4	Reduced number of teeth	HP:0009804
79633	FAT4	Flat face	HP:0012368
79633	FAT4	Short fourth metatarsal	HP:0004689
79633	FAT4	Broad forehead	HP:0000337
79633	FAT4	Abnormality of dental morphology	HP:0006482
79633	FAT4	Craniosynostosis	HP:0001363
79633	FAT4	Narrow forehead	HP:0000341
79633	FAT4	Hypocalcemia	HP:0002901
79633	FAT4	Horseshoe kidney	HP:0000085
79633	FAT4	Ectopic kidney	HP:0000086
79633	FAT4	Renal hypoplasia	HP:0000089
79633	FAT4	Scoliosis	HP:0002650
79633	FAT4	Micrognathia	HP:0000347
79633	FAT4	Skeletal dysplasia	HP:0002652
79633	FAT4	Lymphopenia	HP:0001888
79633	FAT4	Camptodactyly	HP:0012385
79633	FAT4	Microtia	HP:0008551
79633	FAT4	Joint laxity	HP:0001388
79633	FAT4	Hearing impairment	HP:0000365
79633	FAT4	Low-set ears	HP:0000369
79633	FAT4	Pulmonary lymphangiectasia	HP:0006521
79633	FAT4	External ear malformation	HP:0008572
79633	FAT4	Short clavicles	HP:0000894
79633	FAT4	Clinodactyly	HP:0030084
79633	FAT4	Syndactyly	HP:0001159
79633	FAT4	Camptodactyly of finger	HP:0100490
79633	FAT4	Irregular dentition	HP:0040079
79633	FAT4	Conductive hearing impairment	HP:0000405
79633	FAT4	Sensorineural hearing impairment	HP:0000407
79633	FAT4	Downturned corners of mouth	HP:0002714
79633	FAT4	Lymphadenopathy	HP:0002716
79633	FAT4	Atresia of the external auditory canal	HP:0000413
79633	FAT4	Lymphangioma	HP:0100764
79633	FAT4	Recurrent respiratory infections	HP:0002205
79633	FAT4	Depressed nasal bridge	HP:0005280
79633	FAT4	Narrow mouth	HP:0000160
79633	FAT4	Pericardial effusion	HP:0001698
79633	FAT4	Sparse axillary hair	HP:0002215
79633	FAT4	Osteopenia	HP:0000938
79633	FAT4	Osteoporosis	HP:0000939
79633	FAT4	Delayed eruption of teeth	HP:0000684
79633	FAT4	Wide nasal bridge	HP:0000431
79633	FAT4	Dental malocclusion	HP:0000689
79633	FAT4	Arteriovenous malformation	HP:0100026
79633	FAT4	Sacral dimple	HP:0000960
79633	FAT4	Feeding difficulties	HP:0011968
79633	FAT4	Short palpebral fissure	HP:0012745
79633	FAT4	Splenomegaly	HP:0001744
79633	FAT4	Gingival overgrowth	HP:0000212
79633	FAT4	Finger syndactyly	HP:0006101
79633	FAT4	Decreased antibody level in blood	HP:0004313
79633	FAT4	High palate	HP:0000218
79633	FAT4	Tracheomalacia	HP:0002779
79633	FAT4	Abnormality of the foot	HP:0001760
79633	FAT4	Intellectual disability	HP:0001249
79633	FAT4	Talipes equinovarus	HP:0001762
79633	FAT4	Seizures	HP:0001250
79633	FAT4	Benign neoplasm of the central nervous system	HP:0100835
79633	FAT4	Pyloric stenosis	HP:0002021
79633	FAT4	Growth delay	HP:0001510
79633	FAT4	Intellectual disability, mild	HP:0001256
79633	FAT4	Malabsorption	HP:0002024
79633	FAT4	Gray matter heterotopia	HP:0002282
79633	FAT4	Lymphedema	HP:0001004
79633	FAT4	Glaucoma	HP:0000501
79633	FAT4	Congenital onset	HP:0003577
79633	FAT4	Mild postnatal growth retardation	HP:0001530
79633	FAT4	Ptosis	HP:0000508
79633	FAT4	Hydrops fetalis	HP:0001789
5906	RAP1A	Preauricular skin tag	HP:0000384
5906	RAP1A	Crossed fused renal ectopia	HP:0004736
5906	RAP1A	Abnormal cardiac septum morphology	HP:0001671
5906	RAP1A	Congenital diaphragmatic hernia	HP:0000776
5906	RAP1A	Hip dislocation	HP:0002827
5906	RAP1A	Long eyelashes	HP:0000527
5906	RAP1A	Macrotia	HP:0000400
5906	RAP1A	Coarctation of aorta	HP:0001680
5906	RAP1A	Short 5th finger	HP:0009237
5906	RAP1A	Conductive hearing impairment	HP:0000405
5906	RAP1A	Sensorineural hearing impairment	HP:0000407
5906	RAP1A	Protruding ear	HP:0000411
5906	RAP1A	Hypodontia	HP:0000668
5906	RAP1A	Cryptorchidism	HP:0000028
5906	RAP1A	Recurrent infections	HP:0002719
5906	RAP1A	Hypoplasia of penis	HP:0008736
5906	RAP1A	Mask-like facies	HP:0000298
5906	RAP1A	Lip pit	HP:0100267
5906	RAP1A	Hypospadias	HP:0000047
5906	RAP1A	Widely spaced teeth	HP:0000687
5906	RAP1A	Cleft palate	HP:0000175
5906	RAP1A	EEG abnormality	HP:0002353
5906	RAP1A	Microdontia	HP:0000691
5906	RAP1A	Abnormal dermatoglyphics	HP:0007477
5906	RAP1A	Precocious puberty	HP:0000826
5906	RAP1A	Short middle phalanx of finger	HP:0005819
5906	RAP1A	Joint hyperflexibility	HP:0005692
5906	RAP1A	Feeding difficulties	HP:0011968
5906	RAP1A	Ventriculomegaly	HP:0002119
5906	RAP1A	Cerebral cortical atrophy	HP:0002120
5906	RAP1A	Ureteropelvic junction obstruction	HP:0000074
5906	RAP1A	Coloboma	HP:0000589
5906	RAP1A	Blue sclerae	HP:0000592
5906	RAP1A	Short columella	HP:0002000
5906	RAP1A	Duplicated collecting system	HP:0000081
5906	RAP1A	Sparse lateral eyebrow	HP:0005338
5906	RAP1A	Scoliosis	HP:0002650
5906	RAP1A	High palate	HP:0000218
5906	RAP1A	Seizures	HP:0001250
5906	RAP1A	Microcornea	HP:0000482
5906	RAP1A	Short stature	HP:0004322
5906	RAP1A	Failure to thrive	HP:0001508
5906	RAP1A	Muscular hypotonia	HP:0001252
5906	RAP1A	Renal hypoplasia/aplasia	HP:0008678
5906	RAP1A	Strabismus	HP:0000486
5906	RAP1A	Eversion of lateral third of lower eyelids	HP:0007655
5906	RAP1A	Obesity	HP:0001513
5906	RAP1A	Hydrocephalus	HP:0000238
5906	RAP1A	Butterfly vertebrae	HP:0003316
5906	RAP1A	Small hand	HP:0200055
5906	RAP1A	Hemivertebrae	HP:0002937
5906	RAP1A	Highly arched eyebrow	HP:0002553
5906	RAP1A	Ptosis	HP:0000508
5906	RAP1A	Microcephaly	HP:0000252
5906	RAP1A	Hydronephrosis	HP:0000126
5906	RAP1A	Nystagmus	HP:0000639
5908	RAP1B	Preauricular skin tag	HP:0000384
5908	RAP1B	Crossed fused renal ectopia	HP:0004736
5908	RAP1B	Abnormal cardiac septum morphology	HP:0001671
5908	RAP1B	Congenital diaphragmatic hernia	HP:0000776
5908	RAP1B	Hip dislocation	HP:0002827
5908	RAP1B	Long eyelashes	HP:0000527
5908	RAP1B	Macrotia	HP:0000400
5908	RAP1B	Coarctation of aorta	HP:0001680
5908	RAP1B	Short 5th finger	HP:0009237
5908	RAP1B	Conductive hearing impairment	HP:0000405
5908	RAP1B	Sensorineural hearing impairment	HP:0000407
5908	RAP1B	Protruding ear	HP:0000411
5908	RAP1B	Hypodontia	HP:0000668
5908	RAP1B	Cryptorchidism	HP:0000028
5908	RAP1B	Recurrent infections	HP:0002719
5908	RAP1B	Hypoplasia of penis	HP:0008736
5908	RAP1B	Mask-like facies	HP:0000298
5908	RAP1B	Lip pit	HP:0100267
5908	RAP1B	Hypospadias	HP:0000047
5908	RAP1B	Widely spaced teeth	HP:0000687
5908	RAP1B	Cleft palate	HP:0000175
5908	RAP1B	EEG abnormality	HP:0002353
5908	RAP1B	Microdontia	HP:0000691
5908	RAP1B	Abnormal dermatoglyphics	HP:0007477
5908	RAP1B	Precocious puberty	HP:0000826
5908	RAP1B	Short middle phalanx of finger	HP:0005819
5908	RAP1B	Joint hyperflexibility	HP:0005692
5908	RAP1B	Feeding difficulties	HP:0011968
5908	RAP1B	Ventriculomegaly	HP:0002119
5908	RAP1B	Cerebral cortical atrophy	HP:0002120
5908	RAP1B	Ureteropelvic junction obstruction	HP:0000074
5908	RAP1B	Coloboma	HP:0000589
5908	RAP1B	Blue sclerae	HP:0000592
5908	RAP1B	Short columella	HP:0002000
5908	RAP1B	Duplicated collecting system	HP:0000081
5908	RAP1B	Sparse lateral eyebrow	HP:0005338
5908	RAP1B	Scoliosis	HP:0002650
5908	RAP1B	High palate	HP:0000218
5908	RAP1B	Seizures	HP:0001250
5908	RAP1B	Microcornea	HP:0000482
5908	RAP1B	Short stature	HP:0004322
5908	RAP1B	Failure to thrive	HP:0001508
5908	RAP1B	Muscular hypotonia	HP:0001252
5908	RAP1B	Renal hypoplasia/aplasia	HP:0008678
5908	RAP1B	Strabismus	HP:0000486
5908	RAP1B	Eversion of lateral third of lower eyelids	HP:0007655
5908	RAP1B	Obesity	HP:0001513
5908	RAP1B	Hydrocephalus	HP:0000238
5908	RAP1B	Butterfly vertebrae	HP:0003316
5908	RAP1B	Small hand	HP:0200055
5908	RAP1B	Hemivertebrae	HP:0002937
5908	RAP1B	Highly arched eyebrow	HP:0002553
5908	RAP1B	Ptosis	HP:0000508
5908	RAP1B	Microcephaly	HP:0000252
5908	RAP1B	Hydronephrosis	HP:0000126
5908	RAP1B	Nystagmus	HP:0000639
145173	B3GLCT	Macrocephaly	HP:0000256
145173	B3GLCT	Umbilical hernia	HP:0001537
145173	B3GLCT	Multicystic kidney dysplasia	HP:0000003
145173	B3GLCT	Wide anterior fontanel	HP:0000260
145173	B3GLCT	Diastasis recti	HP:0001540
145173	B3GLCT	Cataract	HP:0000518
145173	B3GLCT	Autosomal recessive inheritance	HP:0000007
145173	B3GLCT	Anteriorly placed anus	HP:0001545
145173	B3GLCT	Cerebral atrophy	HP:0002059
145173	B3GLCT	Hypoplasia of the uterus	HP:0000013
145173	B3GLCT	Long face	HP:0000276
145173	B3GLCT	Corneal opacity	HP:0007957
145173	B3GLCT	Decreased fetal movement	HP:0001558
145173	B3GLCT	Hypoplasia of the vagina	HP:0008726
145173	B3GLCT	Inguinal hernia	HP:0000023
145173	B3GLCT	Polyhydramnios	HP:0001561
145173	B3GLCT	Cryptorchidism	HP:0000028
145173	B3GLCT	Hypoplastic left heart	HP:0004383
145173	B3GLCT	Myopia	HP:0000545
145173	B3GLCT	Short toe	HP:0001831
145173	B3GLCT	Hypospadias	HP:0000047
145173	B3GLCT	Round face	HP:0000311
145173	B3GLCT	Biliary tract abnormality	HP:0001080
145173	B3GLCT	Conical incisor	HP:0011065
145173	B3GLCT	Hypoplastic labia majora	HP:0000059
145173	B3GLCT	Hypertelorism	HP:0000316
145173	B3GLCT	Clitoral hypoplasia	HP:0000060
145173	B3GLCT	Abnormality of the pulmonary artery	HP:0004414
145173	B3GLCT	Bicuspid pulmonary valve	HP:0005182
145173	B3GLCT	Anterior hypopituitarism	HP:0000830
145173	B3GLCT	Short metacarpal	HP:0010049
145173	B3GLCT	Upslanted palpebral fissure	HP:0000582
145173	B3GLCT	Ventriculomegaly	HP:0002119
145173	B3GLCT	Hypoplasia of the maxilla	HP:0000327
145173	B3GLCT	Cerebral cortical atrophy	HP:0002120
145173	B3GLCT	Ureteral duplication	HP:0000073
145173	B3GLCT	Renal duplication	HP:0000075
145173	B3GLCT	Congenital hypothyroidism	HP:0000851
145173	B3GLCT	Craniosynostosis	HP:0001363
145173	B3GLCT	Abnormality of pelvic girdle bone morphology	HP:0002644
145173	B3GLCT	Long philtrum	HP:0000343
145173	B3GLCT	Renal hypoplasia	HP:0000089
145173	B3GLCT	Scoliosis	HP:0002650
145173	B3GLCT	Micrognathia	HP:0000347
145173	B3GLCT	Ventricular septal defect	HP:0001629
145173	B3GLCT	Atrial septal defect	HP:0001631
145173	B3GLCT	Iris coloboma	HP:0000612
145173	B3GLCT	Pulmonic stenosis	HP:0001642
145173	B3GLCT	Patent ductus arteriosus	HP:0001643
145173	B3GLCT	Joint laxity	HP:0001388
145173	B3GLCT	Hearing impairment	HP:0000365
145173	B3GLCT	Low-set, posteriorly rotated ears	HP:0000368
145173	B3GLCT	Clinodactyly of the 5th finger	HP:0004209
145173	B3GLCT	Low-set ears	HP:0000369
145173	B3GLCT	Preauricular pit	HP:0004467
145173	B3GLCT	Microtia, second degree	HP:0008569
145173	B3GLCT	Hemivertebrae	HP:0002937
145173	B3GLCT	Short nose	HP:0003196
145173	B3GLCT	Hydronephrosis	HP:0000126
145173	B3GLCT	Nystagmus	HP:0000639
145173	B3GLCT	Preauricular skin tag	HP:0000384
145173	B3GLCT	Brachydactyly	HP:0001156
145173	B3GLCT	Abnormal cardiac septum morphology	HP:0001671
145173	B3GLCT	Syndactyly	HP:0001159
145173	B3GLCT	Optic atrophy	HP:0000648
145173	B3GLCT	Broad palm	HP:0001169
145173	B3GLCT	Stenosis of the external auditory canal	HP:0000402
145173	B3GLCT	Peters anomaly	HP:0000659
145173	B3GLCT	Conductive hearing impairment	HP:0000405
145173	B3GLCT	Proximal placement of thumb	HP:0009623
145173	B3GLCT	Anterior chamber synechiae	HP:0007833
145173	B3GLCT	Wide mouth	HP:0000154
145173	B3GLCT	Protruding ear	HP:0000411
145173	B3GLCT	Depressed nasal bridge	HP:0005280
145173	B3GLCT	Micromelia	HP:0002983
145173	B3GLCT	Feeding difficulties in infancy	HP:0008872
145173	B3GLCT	Facial hypertrichosis	HP:0002219
145173	B3GLCT	Widely spaced teeth	HP:0000687
145173	B3GLCT	Cleft palate	HP:0000175
145173	B3GLCT	Agenesis of maxillary lateral incisor	HP:0000690
145173	B3GLCT	Limited elbow movement	HP:0002996
145173	B3GLCT	Short palm	HP:0004279
145173	B3GLCT	Single transverse palmar crease	HP:0000954
145173	B3GLCT	Sacral dimple	HP:0000960
145173	B3GLCT	Postnatal growth retardation	HP:0008897
145173	B3GLCT	Short lingual frenulum	HP:0000200
145173	B3GLCT	Short palpebral fissure	HP:0012745
145173	B3GLCT	Rhizomelia	HP:0008905
145173	B3GLCT	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
145173	B3GLCT	Cleft upper lip	HP:0000204
145173	B3GLCT	Square pelvis bone	HP:0003278
145173	B3GLCT	Anteverted nares	HP:0000463
145173	B3GLCT	Short columella	HP:0002000
145173	B3GLCT	Webbed neck	HP:0000465
145173	B3GLCT	Intestinal fistula	HP:0100819
145173	B3GLCT	Wide intermamillary distance	HP:0006610
145173	B3GLCT	Prominent forehead	HP:0011220
145173	B3GLCT	Short neck	HP:0000470
145173	B3GLCT	Exaggerated cupid's bow	HP:0002263
145173	B3GLCT	Frontal bossing	HP:0002007
145173	B3GLCT	Thin upper lip vermilion	HP:0000219
145173	B3GLCT	Broad neck	HP:0000475
145173	B3GLCT	Retinal coloboma	HP:0000480
145173	B3GLCT	Intellectual disability	HP:0001249
145173	B3GLCT	Pes cavus	HP:0001761
145173	B3GLCT	Microcornea	HP:0000482
145173	B3GLCT	Spina bifida occulta	HP:0003298
145173	B3GLCT	Seizures	HP:0001250
145173	B3GLCT	Decreased body weight	HP:0004325
145173	B3GLCT	Renal hypoplasia/aplasia	HP:0008678
145173	B3GLCT	Anal atresia	HP:0002023
145173	B3GLCT	Intrauterine growth retardation	HP:0001511
145173	B3GLCT	Intellectual disability, progressive	HP:0006887
145173	B3GLCT	Bilobate gallbladder	HP:0005608
145173	B3GLCT	Broad foot	HP:0001769
145173	B3GLCT	Birth length less than 3rd percentile	HP:0003561
145173	B3GLCT	Thin vermilion border	HP:0000233
145173	B3GLCT	Toe syndactyly	HP:0001770
145173	B3GLCT	Short foot	HP:0001773
145173	B3GLCT	Hydrocephalus	HP:0000238
145173	B3GLCT	Global developmental delay	HP:0001263
145173	B3GLCT	Glaucoma	HP:0000501
145173	B3GLCT	Short metatarsal	HP:0010743
145173	B3GLCT	Abnormal pulmonary vein morphology	HP:0030968
145173	B3GLCT	Brachycephaly	HP:0000248
145173	B3GLCT	Visual impairment	HP:0000505
145173	B3GLCT	Agenesis of corpus callosum	HP:0001274
145173	B3GLCT	Microcephaly	HP:0000252
145173	B3GLCT	Ptosis	HP:0000508
145173	B3GLCT	Pectus excavatum	HP:0000767
79641	ROGDI	Intellectual disability	HP:0001249
79641	ROGDI	Amelogenesis imperfecta	HP:0000705
79641	ROGDI	Seizures	HP:0001250
79641	ROGDI	Short stature	HP:0004322
79641	ROGDI	Ataxia	HP:0001251
79641	ROGDI	Epileptic encephalopathy	HP:0200134
79641	ROGDI	Hypohidrosis	HP:0000966
79641	ROGDI	Autosomal recessive inheritance	HP:0000007
79641	ROGDI	Ventriculomegaly	HP:0002119
79641	ROGDI	Developmental regression	HP:0002376
79641	ROGDI	Spasticity	HP:0001257
79641	ROGDI	Cerebellar hypoplasia	HP:0001321
79641	ROGDI	Cerebral atrophy	HP:0002059
79641	ROGDI	Yellow-brown discoloration of the teeth	HP:0006286
79641	ROGDI	Hydrocephalus	HP:0000238
79641	ROGDI	Global developmental delay	HP:0001263
79641	ROGDI	Intellectual disability, severe	HP:0010864
79641	ROGDI	EEG abnormality	HP:0002353
79641	ROGDI	Variable expressivity	HP:0003828
79641	ROGDI	Dementia	HP:0000726
79641	ROGDI	Hypsarrhythmia	HP:0002521
79641	ROGDI	Hypoplasia of dental enamel	HP:0006297
55065	SLC52A1	Poor suck	HP:0002033
55065	SLC52A1	Elevated plasma acylcarnitine levels	HP:0045045
55065	SLC52A1	Metabolic acidosis	HP:0001942
55065	SLC52A1	Autosomal dominant inheritance	HP:0000006
55065	SLC52A1	Hypoglycemia	HP:0001943
55065	SLC52A1	Vitamin B2 deficiency	HP:0100504
55065	SLC52A1	Dicarboxylic aciduria	HP:0003215
5913	RAPSN	Akinesia	HP:0002304
5913	RAPSN	Skeletal muscle atrophy	HP:0003202
5913	RAPSN	EMG: myopathic abnormalities	HP:0003458
5913	RAPSN	Triceps weakness	HP:0031108
5913	RAPSN	Facial palsy	HP:0010628
5913	RAPSN	Autosomal recessive inheritance	HP:0000007
5913	RAPSN	Proptosis	HP:0000520
5913	RAPSN	Thoracic hypoplasia	HP:0005257
5913	RAPSN	Neck flexor weakness	HP:0003722
5913	RAPSN	Camptodactyly of finger	HP:0100490
5913	RAPSN	Diplopia	HP:0000651
5913	RAPSN	Multiple joint contractures	HP:0002828
5913	RAPSN	Ankle weakness	HP:0031374
5913	RAPSN	Ulnar deviation of the hand	HP:0009487
5913	RAPSN	High, narrow palate	HP:0002705
5913	RAPSN	Delayed gross motor development	HP:0002194
5913	RAPSN	Long face	HP:0000276
5913	RAPSN	Decreased fetal movement	HP:0001558
5913	RAPSN	Dandy-Walker malformation	HP:0001305
5913	RAPSN	Polyhydramnios	HP:0001561
5913	RAPSN	Drowsiness	HP:0002329
5913	RAPSN	Thoracic kyphoscoliosis	HP:0005659
5913	RAPSN	Cryptorchidism	HP:0000028
5913	RAPSN	Slender long bone	HP:0003100
5913	RAPSN	Abnormality of masticatory muscle	HP:0410011
5913	RAPSN	Abnormality of abdomen morphology	HP:0001438
5913	RAPSN	Depressed nasal bridge	HP:0005280
5913	RAPSN	Narrow mouth	HP:0000160
5913	RAPSN	Pterygium	HP:0001059
5913	RAPSN	Reduced tendon reflexes	HP:0001315
5913	RAPSN	Neonatal hypotonia	HP:0001319
5913	RAPSN	Pulmonary hypoplasia	HP:0002089
5913	RAPSN	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
5913	RAPSN	Cerebellar hypoplasia	HP:0001321
5913	RAPSN	Restrictive ventilatory defect	HP:0002091
5913	RAPSN	Short umbilical cord	HP:0001196
5913	RAPSN	Respiratory insufficiency	HP:0002093
5913	RAPSN	Weakness of the intrinsic hand muscles	HP:0009005
5913	RAPSN	Rocker bottom foot	HP:0001838
5913	RAPSN	Cleft palate	HP:0000175
5913	RAPSN	Absent septum pellucidum	HP:0001331
5913	RAPSN	Depressed nasal tip	HP:0000437
5913	RAPSN	Exertional dyspnea	HP:0002875
5913	RAPSN	Hypertelorism	HP:0000316
5913	RAPSN	Easy fatigability	HP:0003388
5913	RAPSN	Respiratory failure	HP:0002878
5913	RAPSN	Gowers sign	HP:0003391
5913	RAPSN	Feeding difficulties	HP:0011968
5913	RAPSN	Cyanosis	HP:0000961
5913	RAPSN	Fetal akinesia sequence	HP:0001989
5913	RAPSN	Blepharophimosis	HP:0000581
5913	RAPSN	Hypokinesia	HP:0002375
5913	RAPSN	Short palpebral fissure	HP:0012745
5913	RAPSN	Decreased miniature endplate potentials	HP:0003402
5913	RAPSN	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
5913	RAPSN	Abnormality of pelvic girdle bone morphology	HP:0002644
5913	RAPSN	Cavum septum pellucidum	HP:0002389
5913	RAPSN	Ophthalmoparesis	HP:0000597
5913	RAPSN	Short neck	HP:0000470
5913	RAPSN	Premature birth	HP:0001622
5913	RAPSN	Long philtrum	HP:0000343
5913	RAPSN	Scoliosis	HP:0002650
5913	RAPSN	High palate	HP:0000218
5913	RAPSN	Micrognathia	HP:0000347
5913	RAPSN	Type 1 muscle fiber predominance	HP:0003803
5913	RAPSN	Shoulder girdle muscle weakness	HP:0003547
5913	RAPSN	Cystic hygroma	HP:0000476
5913	RAPSN	Orthopnea	HP:0012764
5913	RAPSN	Talipes equinovarus	HP:0001762
5913	RAPSN	Hip flexor weakness	HP:0012515
5913	RAPSN	Posteriorly rotated ears	HP:0000358
5913	RAPSN	Intrauterine growth retardation	HP:0001511
5913	RAPSN	Reduced vital capacity	HP:0002792
5913	RAPSN	Excessive daytime somnolence	HP:0001262
5913	RAPSN	Hydrocephalus	HP:0000238
5913	RAPSN	Small for gestational age	HP:0001518
5913	RAPSN	Stillbirth	HP:0003826
5913	RAPSN	Thin ribs	HP:0000883
5913	RAPSN	Decreased size of nerve terminals	HP:0003443
5913	RAPSN	Arthrogryposis multiplex congenita	HP:0002804
5913	RAPSN	Generalized amyotrophy	HP:0003700
5913	RAPSN	Fatigable weakness of respiratory muscles	HP:0030196
5913	RAPSN	Weakness of long finger extensor muscles	HP:0009077
5913	RAPSN	Fatigable weakness of neck muscles	HP:0030199
5913	RAPSN	Absent palmar crease	HP:0010489
5913	RAPSN	Congenital onset	HP:0003577
5913	RAPSN	Telecanthus	HP:0000506
5913	RAPSN	Small placenta	HP:0006266
5913	RAPSN	Ptosis	HP:0000508
5913	RAPSN	Intestinal hypoplasia	HP:0005245
5913	RAPSN	Elbow ankylosis	HP:0003070
5914	RARA	Acute promyelocytic leukemia	HP:0004836
5914	RARA	Somatic mutation	HP:0001428
5914	RARA	Abnormal granulocytopoietic cell morphology	HP:0012135
5915	RARB	Abnormal spleen morphology	HP:0025408
5915	RARB	Aplasia/Hypoplasia of the pancreas	HP:0100800
5915	RARB	Abnormality of the uterus	HP:0000130
5915	RARB	Duodenal stenosis	HP:0100867
5915	RARB	Annular pancreas	HP:0001734
5915	RARB	Autosomal dominant inheritance	HP:0000006
5915	RARB	Autosomal recessive inheritance	HP:0000007
5915	RARB	Broad nasal tip	HP:0000455
5915	RARB	Congenital diaphragmatic hernia	HP:0000776
5915	RARB	Vesicoureteral reflux	HP:0000076
5915	RARB	Anophthalmia	HP:0000528
5915	RARB	Horseshoe kidney	HP:0000085
5915	RARB	Retrognathia	HP:0000278
5915	RARB	Abnormality of cardiovascular system morphology	HP:0030680
5915	RARB	Renal hypoplasia	HP:0000089
5915	RARB	Micrognathia	HP:0000347
5915	RARB	Cryptorchidism	HP:0000028
5915	RARB	Ventricular septal defect	HP:0001629
5915	RARB	Intellectual disability	HP:0001249
5915	RARB	Failure to thrive	HP:0001508
5915	RARB	Muscular hypotonia	HP:0001252
5915	RARB	Hypoplastic left atrium	HP:0005156
5915	RARB	Intrauterine growth retardation	HP:0001511
5915	RARB	Pulmonary hypoplasia	HP:0002089
5915	RARB	Bicornuate uterus	HP:0000813
5915	RARB	Wide nasal bridge	HP:0000431
5915	RARB	Low-set ears	HP:0000369
5915	RARB	Microphthalmia	HP:0000568
5917	RARS	Hyperreflexia	HP:0001347
5917	RARS	Autosomal recessive inheritance	HP:0000007
5917	RARS	Diffuse cerebral atrophy	HP:0002506
5917	RARS	Absent smooth pursuit	HP:0007179
5917	RARS	Lower limb spasticity	HP:0002061
5917	RARS	Abnormality of extrapyramidal motor function	HP:0002071
5917	RARS	Cerebral hypomyelination	HP:0006808
5917	RARS	Vomiting	HP:0002013
5917	RARS	Dysmetria	HP:0001310
5917	RARS	Hypoplasia of the corpus callosum	HP:0002079
5917	RARS	Intention tremor	HP:0002080
5917	RARS	Intellectual disability	HP:0001249
5917	RARS	Infantile axial hypotonia	HP:0009062
5917	RARS	Increased serum lactate	HP:0002151
5917	RARS	Intellectual disability, mild	HP:0001256
5917	RARS	Spasticity	HP:0001257
5917	RARS	Hyperintensity of cerebral white matter on MRI	HP:0030890
5917	RARS	Dysarthria	HP:0001260
5917	RARS	Lower limb hypertonia	HP:0006895
5917	RARS	Global developmental delay	HP:0001263
5917	RARS	Leukodystrophy	HP:0002415
5917	RARS	Pseudobulbar paralysis	HP:0007024
5917	RARS	Progressive extrapyramidal movement disorder	HP:0007153
5917	RARS	Developmental stagnation	HP:0007281
5917	RARS	Poor eye contact	HP:0000817
5917	RARS	Difficulty walking	HP:0002355
5917	RARS	Dystonia	HP:0001332
5917	RARS	Variable expressivity	HP:0003828
5917	RARS	Poor head control	HP:0002421
5917	RARS	Microcephaly	HP:0000252
5917	RARS	Nystagmus	HP:0000639
5917	RARS	Focal-onset seizure	HP:0007359
79644	SRD5A3	Ichthyosis	HP:0008064
79644	SRD5A3	Hyperkeratosis	HP:0000962
79644	SRD5A3	Eczema	HP:0000964
79644	SRD5A3	Cataract	HP:0000518
79644	SRD5A3	Autosomal recessive inheritance	HP:0000007
79644	SRD5A3	Infantile onset	HP:0003593
79644	SRD5A3	Generalized hypotonia	HP:0001290
79644	SRD5A3	Coloboma	HP:0000589
79644	SRD5A3	Cutis laxa	HP:0000973
79644	SRD5A3	Polymicrogyria	HP:0002126
79644	SRD5A3	Microcytic anemia	HP:0001935
79644	SRD5A3	Bulbous nose	HP:0000414
79644	SRD5A3	Elevated hepatic transaminase	HP:0002910
79644	SRD5A3	Depressed nasal bridge	HP:0005280
79644	SRD5A3	Intellectual disability	HP:0001249
79644	SRD5A3	Iris coloboma	HP:0000612
79644	SRD5A3	Hypertrichosis	HP:0000998
79644	SRD5A3	Intellectual disability, progressive	HP:0006887
79644	SRD5A3	Cerebellar vermis hypoplasia	HP:0001320
79644	SRD5A3	Abnormality of skin pigmentation	HP:0001000
79644	SRD5A3	Elbow flexion contracture	HP:0002987
79644	SRD5A3	Knee flexion contracture	HP:0006380
79644	SRD5A3	Wide nasal bridge	HP:0000431
79644	SRD5A3	Intellectual disability, severe	HP:0010864
79644	SRD5A3	Low-set ears	HP:0000369
79644	SRD5A3	Thick lower lip vermilion	HP:0000179
79644	SRD5A3	Motor delay	HP:0001270
79644	SRD5A3	Brachycephaly	HP:0000248
79644	SRD5A3	Reduced antithrombin III activity	HP:0001976
79644	SRD5A3	Capillary hemangioma	HP:0005306
79644	SRD5A3	Type I transferrin isoform profile	HP:0003642
79644	SRD5A3	Visual loss	HP:0000572
79644	SRD5A3	Hypertelorism	HP:0000316
79644	SRD5A3	Thoracic kyphosis	HP:0002942
79644	SRD5A3	Nystagmus	HP:0000639
79648	MCPH1	Intellectual disability	HP:0001249
79648	MCPH1	Short stature	HP:0004322
79648	MCPH1	Seizures	HP:0001250
79648	MCPH1	Hyperreflexia	HP:0001347
79648	MCPH1	Hypoplasia of the frontal lobes	HP:0007333
79648	MCPH1	Upslanted palpebral fissure	HP:0000582
79648	MCPH1	Autosomal recessive inheritance	HP:0000007
79648	MCPH1	Ventriculomegaly	HP:0002119
79648	MCPH1	Small cerebral cortex	HP:0002472
79648	MCPH1	Gray matter heterotopia	HP:0002282
79648	MCPH1	Vesicoureteral reflux	HP:0000076
79648	MCPH1	Global developmental delay	HP:0001263
79648	MCPH1	Intellectual disability, severe	HP:0010864
79648	MCPH1	Sloping forehead	HP:0000340
79648	MCPH1	Pachygyria	HP:0001302
79648	MCPH1	Unilateral renal agenesis	HP:0000122
79648	MCPH1	Agenesis of corpus callosum	HP:0001274
79648	MCPH1	Increased rate of premature chromosome condensation	HP:0003451
79648	MCPH1	Thin upper lip vermilion	HP:0000219
79648	MCPH1	Microcephaly	HP:0000252
79648	MCPH1	Abnormal cortical bone morphology	HP:0003103
5921	RASA1	Hypertrophy of the lower limb	HP:0010496
5921	RASA1	Congestive heart failure	HP:0001635
5921	RASA1	Abnormal bleeding	HP:0001892
5921	RASA1	Autosomal dominant inheritance	HP:0000006
5921	RASA1	Telangiectasia of the skin	HP:0100585
5921	RASA1	Headache	HP:0002315
5921	RASA1	Basal cell carcinoma	HP:0002671
5921	RASA1	Peripheral arteriovenous fistula	HP:0100784
5921	RASA1	Arteriovenous fistula	HP:0004947
5921	RASA1	Hypertrophy of the upper limb	HP:0010484
5921	RASA1	Hemiparesis	HP:0001269
5921	RASA1	Glaucoma	HP:0000501
5921	RASA1	Capillary hemangioma	HP:0005306
5921	RASA1	Arteriovenous malformation	HP:0100026
5921	RASA1	Varicose veins	HP:0002619
5921	RASA1	Nevus flammeus	HP:0001052
79651	RHBDF2	Hepatomegaly	HP:0002240
79651	RHBDF2	Weight loss	HP:0001824
79651	RHBDF2	Nausea and vomiting	HP:0002017
79651	RHBDF2	Abnormality of the mediastinum	HP:0045026
79651	RHBDF2	Esophageal carcinoma	HP:0011459
79651	RHBDF2	Gastroesophageal reflux	HP:0002020
79651	RHBDF2	Ascites	HP:0001541
79651	RHBDF2	Autosomal dominant inheritance	HP:0000006
79651	RHBDF2	Neoplasm	HP:0002664
79651	RHBDF2	Abnormal large intestine morphology	HP:0002250
79651	RHBDF2	Poor appetite	HP:0004396
79651	RHBDF2	Parakeratosis	HP:0001036
79651	RHBDF2	Esophageal neoplasm	HP:0100751
79651	RHBDF2	Poor suck	HP:0002033
79651	RHBDF2	Palmoplantar keratoderma	HP:0000982
79651	RHBDF2	Diffuse palmoplantar hyperkeratosis	HP:0007447
79651	RHBDF2	Clubbing of toes	HP:0100760
79651	RHBDF2	Abnormality of the mouth	HP:0000153
79651	RHBDF2	Gastrointestinal hemorrhage	HP:0002239
79651	RHBDF2	Dysphagia	HP:0002015
5922	RASA2	Pectus carinatum	HP:0000768
5922	RASA2	Brachydactyly	HP:0001156
5922	RASA2	Thickened helices	HP:0000391
5922	RASA2	Proptosis	HP:0000520
5922	RASA2	Abnormality of coagulation	HP:0001928
5922	RASA2	Enlarged thorax	HP:0100625
5922	RASA2	Sensorineural hearing impairment	HP:0000407
5922	RASA2	Midface retrusion	HP:0011800
5922	RASA2	Arrhythmia	HP:0011675
5922	RASA2	Cryptorchidism	HP:0000028
5922	RASA2	Radioulnar synostosis	HP:0002974
5922	RASA2	Coarse hair	HP:0002208
5922	RASA2	Feeding difficulties in infancy	HP:0008872
5922	RASA2	Hypogonadotrophic hypogonadism	HP:0000044
5922	RASA2	Muscle weakness	HP:0001324
5922	RASA2	Thick lower lip vermilion	HP:0000179
5922	RASA2	Abnormal dermatoglyphics	HP:0007477
5922	RASA2	Hypertelorism	HP:0000316
5922	RASA2	Joint hyperflexibility	HP:0005692
5922	RASA2	Delayed skeletal maturation	HP:0002750
5922	RASA2	Pulmonary artery stenosis	HP:0004415
5922	RASA2	Hepatomegaly	HP:0002240
5922	RASA2	Triangular face	HP:0000325
5922	RASA2	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
5922	RASA2	Abnormality of the spleen	HP:0001743
5922	RASA2	Webbed neck	HP:0000465
5922	RASA2	Wide intermamillary distance	HP:0006610
5922	RASA2	Scoliosis	HP:0002650
5922	RASA2	Thickened nuchal skin fold	HP:0000474
5922	RASA2	High palate	HP:0000218
5922	RASA2	Micrognathia	HP:0000347
5922	RASA2	Cystic hygroma	HP:0000476
5922	RASA2	High forehead	HP:0000348
5922	RASA2	Abnormal platelet function	HP:0011869
5922	RASA2	Short stature	HP:0004322
5922	RASA2	Abnormal hair quantity	HP:0011362
5922	RASA2	Melanocytic nevus	HP:0000995
5922	RASA2	Abnormal bleeding	HP:0001892
5922	RASA2	Muscular hypotonia	HP:0001252
5922	RASA2	Strabismus	HP:0000486
5922	RASA2	Abnormal pulmonary valve morphology	HP:0001641
5922	RASA2	Dysarthria	HP:0001260
5922	RASA2	Lymphedema	HP:0001004
5922	RASA2	Downslanted palpebral fissures	HP:0000494
5922	RASA2	Low-set, posteriorly rotated ears	HP:0000368
5922	RASA2	Clinodactyly of the 5th finger	HP:0004209
5922	RASA2	Low posterior hairline	HP:0002162
5922	RASA2	Aplasia of the semicircular canal	HP:0011381
5922	RASA2	Ptosis	HP:0000508
5922	RASA2	Pectus excavatum	HP:0000767
5922	RASA2	Nystagmus	HP:0000639
79650	USB1	Aplastic/hypoplastic toenail	HP:0010624
79650	USB1	Aplasia/Hypoplasia of the skin	HP:0008065
79650	USB1	Abnormal blistering of the skin	HP:0008066
79650	USB1	Recurrent pneumonia	HP:0006532
79650	USB1	Plantar hyperkeratosis	HP:0007556
79650	USB1	Avascular necrosis	HP:0010885
79650	USB1	Poikiloderma	HP:0001029
79650	USB1	Cataract	HP:0000518
79650	USB1	Sparse hair	HP:0008070
79650	USB1	Autosomal recessive inheritance	HP:0000007
79650	USB1	Abnormality of female internal genitalia	HP:0000008
79650	USB1	Abnormality of coagulation	HP:0001928
79650	USB1	Hypermelanotic macule	HP:0001034
79650	USB1	Tracheoesophageal fistula	HP:0002575
79650	USB1	Malar flattening	HP:0000272
79650	USB1	Displacement of the urethral meatus	HP:0100627
79650	USB1	Recurrent otitis media	HP:0000403
79650	USB1	Abnormal eyebrow morphology	HP:0000534
79650	USB1	Bone marrow hypocellularity	HP:0005528
79650	USB1	Midface retrusion	HP:0011800
79650	USB1	Hypodontia	HP:0000668
79650	USB1	Recurrent respiratory infections	HP:0002205
79650	USB1	Hypopigmented skin patches	HP:0001053
79650	USB1	Carious teeth	HP:0000670
79650	USB1	Abnormal testis morphology	HP:0000035
79650	USB1	Elevated serum creatine kinase	HP:0003236
79650	USB1	Taurodontia	HP:0000679
79650	USB1	Premature graying of hair	HP:0002216
79650	USB1	Osteoporosis	HP:0000939
79650	USB1	Diabetes mellitus	HP:0000819
79650	USB1	Oral leukoplakia	HP:0002745
79650	USB1	Anorectal anomaly	HP:0012732
79650	USB1	Alopecia	HP:0001596
79650	USB1	Hypertelorism	HP:0000316
79650	USB1	Rough bone trabeculation	HP:0100670
79650	USB1	Hepatomegaly	HP:0002240
79650	USB1	Periodontitis	HP:0000704
79650	USB1	Recurrent fractures	HP:0002757
79650	USB1	Hypoplasia of the maxilla	HP:0000327
79650	USB1	Neoplasm of the pancreas	HP:0002894
79650	USB1	Abnormal fingernail morphology	HP:0001231
79650	USB1	Hyperhidrosis	HP:0000975
79650	USB1	Splenomegaly	HP:0001744
79650	USB1	Thrombocytopenia	HP:0001873
79650	USB1	Cerebral calcification	HP:0002514
79650	USB1	Esophageal stenosis	HP:0010450
79650	USB1	Abnormality of neutrophils	HP:0001874
79650	USB1	Neutropenia	HP:0001875
79650	USB1	Nail dystrophy	HP:0008404
79650	USB1	Urethral stenosis	HP:0008661
79650	USB1	Palmoplantar keratoderma	HP:0000982
79650	USB1	Abnormality of the pharynx	HP:0000600
79650	USB1	Scoliosis	HP:0002650
79650	USB1	Increased lactate dehydrogenase activity	HP:0025435
79650	USB1	Short stature	HP:0004322
79650	USB1	White hair	HP:0011364
79650	USB1	Recurrent sinusitis	HP:0011108
79650	USB1	Skin vesicle	HP:0200037
79650	USB1	Intrauterine growth retardation	HP:0001511
79650	USB1	Malabsorption	HP:0002024
79650	USB1	Telangiectasia of the skin	HP:0100585
79650	USB1	Skin ulcer	HP:0200042
79650	USB1	Lymphoma	HP:0002665
79650	USB1	Hearing impairment	HP:0000365
79650	USB1	Anemia	HP:0001903
79650	USB1	Global developmental delay	HP:0001263
79650	USB1	Blepharitis	HP:0000498
79650	USB1	Cirrhosis	HP:0001394
79650	USB1	Abnormal eyelash morphology	HP:0000499
79650	USB1	Hepatic failure	HP:0001399
79650	USB1	Conjunctivitis	HP:0000509
79650	USB1	Cellular immunodeficiency	HP:0005374
5925	RB1	Aplasia/Hypoplasia of the thumb	HP:0009601
5925	RB1	Brachydactyly	HP:0001156
5925	RB1	Autosomal dominant inheritance	HP:0000006
5925	RB1	Cataract	HP:0000518
5925	RB1	Autosomal recessive inheritance	HP:0000007
5925	RB1	Thickened helices	HP:0000391
5925	RB1	Vitritis	HP:0011531
5925	RB1	Abnormality of the gastrointestinal tract	HP:0011024
5925	RB1	Abnormality of metabolism/homeostasis	HP:0001939
5925	RB1	Somatic mutation	HP:0001428
5925	RB1	Fever	HP:0001945
5925	RB1	Protruding ear	HP:0000411
5925	RB1	Epicanthus	HP:0000286
5925	RB1	Hypoplasia of the corpus callosum	HP:0002079
5925	RB1	Weight loss	HP:0001824
5925	RB1	Sporadic	HP:0003745
5925	RB1	Prominent nasal bridge	HP:0000426
5925	RB1	Leukocoria	HP:0000555
5925	RB1	Cleft palate	HP:0000175
5925	RB1	Pinealoma	HP:0010799
5925	RB1	Neoplasm of the lung	HP:0100526
5925	RB1	Wide nasal bridge	HP:0000431
5925	RB1	Abnormal dermatoglyphics	HP:0007477
5925	RB1	Retinal calcification	HP:0007862
5925	RB1	Microphthalmia	HP:0000568
5925	RB1	Hypertelorism	HP:0000316
5925	RB1	Retinoblastoma	HP:0009919
5925	RB1	Pathologic fracture	HP:0002756
5925	RB1	Holoprosencephaly	HP:0001360
5925	RB1	Webbed neck	HP:0000465
5925	RB1	Elevated alkaline phosphatase	HP:0003155
5925	RB1	Transitional cell carcinoma of the bladder	HP:0006740
5925	RB1	Finger syndactyly	HP:0006101
5925	RB1	Short neck	HP:0000470
5925	RB1	Abnormality of cardiovascular system morphology	HP:0030680
5925	RB1	Abnormality of the femoral metaphysis	HP:0006489
5925	RB1	Micrognathia	HP:0000347
5925	RB1	Increased lactate dehydrogenase activity	HP:0025435
5925	RB1	Abnormality of the tibial metaphysis	HP:0006491
5925	RB1	Ewing sarcoma	HP:0012254
5925	RB1	Vitreous hemorrhage	HP:0007902
5925	RB1	Intellectual disability	HP:0001249
5925	RB1	Short stature	HP:0004322
5925	RB1	Muscular hypotonia	HP:0001252
5925	RB1	Iris coloboma	HP:0000612
5925	RB1	Intrauterine growth retardation	HP:0001511
5925	RB1	Lymphoma	HP:0002665
5925	RB1	Joint swelling	HP:0001386
5925	RB1	Osteosarcoma	HP:0002669
5925	RB1	Osteolysis	HP:0002797
5925	RB1	Clinodactyly of the 5th finger	HP:0004209
5925	RB1	Low-set ears	HP:0000369
5925	RB1	Trigonocephaly	HP:0000243
5925	RB1	Pain	HP:0012531
5925	RB1	Leukemia	HP:0001909
5925	RB1	Ptosis	HP:0000508
5925	RB1	Microcephaly	HP:0000252
55081	IFT57	Square face	HP:0000321
55081	IFT57	Short philtrum	HP:0000322
55081	IFT57	Postaxial polydactyly	HP:0100259
55081	IFT57	Preaxial polydactyly	HP:0100258
55081	IFT57	Brachydactyly	HP:0001156
55081	IFT57	Autosomal recessive inheritance	HP:0000007
55081	IFT57	Cleft lip	HP:0410030
55081	IFT57	Prominent nasal bridge	HP:0000426
55081	IFT57	Wide nasal bridge	HP:0000431
55081	IFT57	Urinary incontinence	HP:0000020
55081	IFT57	Short distal phalanx of finger	HP:0009882
55081	IFT57	Short middle phalanx of finger	HP:0005819
55081	IFT57	Diastema	HP:0000699
55081	IFT57	Sandal gap	HP:0001852
55081	IFT57	Small forehead	HP:0000350
55081	IFT57	Accessory oral frenulum	HP:0000191
79659	DYNC2H1	Macrocephaly	HP:0000256
79659	DYNC2H1	Omphalocele	HP:0001539
79659	DYNC2H1	Brachydactyly	HP:0001156
79659	DYNC2H1	Abnormality of the ribs	HP:0000772
79659	DYNC2H1	Short ribs	HP:0000773
79659	DYNC2H1	Narrow chest	HP:0000774
79659	DYNC2H1	Cataract	HP:0000518
79659	DYNC2H1	Intestinal malrotation	HP:0002566
79659	DYNC2H1	Autosomal recessive inheritance	HP:0000007
79659	DYNC2H1	Thoracic hypoplasia	HP:0005257
79659	DYNC2H1	Postaxial hand polydactyly	HP:0001162
79659	DYNC2H1	Urethrovaginal fistula	HP:0008716
79659	DYNC2H1	Abnormal pelvis bone ossification	HP:0009106
79659	DYNC2H1	Abnormality of retinal pigmentation	HP:0007703
79659	DYNC2H1	Dandy-Walker malformation	HP:0001305
79659	DYNC2H1	Preaxial hand polydactyly	HP:0001177
79659	DYNC2H1	Hamartoma of tongue	HP:0011802
79659	DYNC2H1	Cryptorchidism	HP:0000028
79659	DYNC2H1	Epicanthus	HP:0000286
79659	DYNC2H1	Depressed nasal bridge	HP:0005280
79659	DYNC2H1	Hypoplasia of penis	HP:0008736
79659	DYNC2H1	Postaxial polydactyly	HP:0100259
79659	DYNC2H1	Preaxial polydactyly	HP:0100258
79659	DYNC2H1	Femoral bowing	HP:0002980
79659	DYNC2H1	Postaxial foot polydactyly	HP:0001830
79659	DYNC2H1	Micromelia	HP:0002983
79659	DYNC2H1	Feeding difficulties in infancy	HP:0008872
79659	DYNC2H1	Disproportionate short-limb short stature	HP:0008873
79659	DYNC2H1	Pulmonary hypoplasia	HP:0002089
79659	DYNC2H1	Cerebellar hypoplasia	HP:0001321
79659	DYNC2H1	Respiratory insufficiency	HP:0002093
79659	DYNC2H1	Ectopic anus	HP:0004397
79659	DYNC2H1	Cerebellar cyst	HP:0002350
79659	DYNC2H1	Aplasia/Hypoplasia of the lungs	HP:0006703
79659	DYNC2H1	Cleft palate	HP:0000175
79659	DYNC2H1	Abnormality of the metaphysis	HP:0000944
79659	DYNC2H1	Uterus didelphys	HP:0003762
79659	DYNC2H1	Congenital hepatic fibrosis	HP:0002612
79659	DYNC2H1	Micropenis	HP:0000054
79659	DYNC2H1	Short palm	HP:0004279
79659	DYNC2H1	Bifid tongue	HP:0010297
79659	DYNC2H1	Wide nose	HP:0000445
79659	DYNC2H1	Ambiguous genitalia	HP:0000062
79659	DYNC2H1	Metaphyseal spurs	HP:0005054
79659	DYNC2H1	Short thorax	HP:0010306
79659	DYNC2H1	Bifid epiglottis	HP:0010564
79659	DYNC2H1	Abdominal distention	HP:0003270
79659	DYNC2H1	Metaphyseal widening	HP:0003016
79659	DYNC2H1	Cleft upper lip	HP:0000204
79659	DYNC2H1	Hypoplasia of the ulna	HP:0003022
79659	DYNC2H1	Renal insufficiency	HP:0000083
79659	DYNC2H1	Cone-shaped epiphysis	HP:0010579
79659	DYNC2H1	Lethal skeletal dysplasia	HP:0005716
79659	DYNC2H1	Abnormality of pelvic girdle bone morphology	HP:0002644
79659	DYNC2H1	Absent tibia	HP:0009556
79659	DYNC2H1	Facial cleft	HP:0002006
79659	DYNC2H1	Acetabular spurs	HP:0010454
79659	DYNC2H1	Frontal bossing	HP:0002007
79659	DYNC2H1	Long philtrum	HP:0000343
79659	DYNC2H1	Abnormality of cardiovascular system morphology	HP:0030680
79659	DYNC2H1	Renal hypoplasia	HP:0000089
79659	DYNC2H1	Nephronophthisis	HP:0000090
79659	DYNC2H1	Scoliosis	HP:0002650
79659	DYNC2H1	Micrognathia	HP:0000347
79659	DYNC2H1	Skeletal dysplasia	HP:0002652
79659	DYNC2H1	Fibular hypoplasia	HP:0003038
79659	DYNC2H1	Short stature	HP:0004322
79659	DYNC2H1	Talipes equinovarus	HP:0001762
79659	DYNC2H1	Anal atresia	HP:0002023
79659	DYNC2H1	Digenic inheritance	HP:0010984
79659	DYNC2H1	Enlarged kidney	HP:0000105
79659	DYNC2H1	Toe syndactyly	HP:0001770
79659	DYNC2H1	Renal cyst	HP:0000107
79659	DYNC2H1	Short foot	HP:0001773
79659	DYNC2H1	Renal dysplasia	HP:0000110
79659	DYNC2H1	Esophageal atresia	HP:0002032
79659	DYNC2H1	Abnormality of the liver	HP:0001392
79659	DYNC2H1	Nephropathy	HP:0000112
79659	DYNC2H1	Polycystic kidney dysplasia	HP:0000113
79659	DYNC2H1	Absent or minimally ossified vertebral bodies	HP:0004599
79659	DYNC2H1	Horizontal ribs	HP:0000888
79659	DYNC2H1	Abnormality of the clavicle	HP:0000889
79659	DYNC2H1	Agenesis of corpus callosum	HP:0001274
79659	DYNC2H1	Hydrops fetalis	HP:0001789
79659	DYNC2H1	Hydronephrosis	HP:0000126
79659	DYNC2H1	Abnormality of the sternum	HP:0000766
79659	DYNC2H1	Lateral clavicle hook	HP:0000895
5932	RBBP8	Absent earlobe	HP:0000387
5932	RBBP8	Few cafe-au-lait spots	HP:0007429
5932	RBBP8	Autosomal recessive inheritance	HP:0000007
5932	RBBP8	Narrow face	HP:0000275
5932	RBBP8	Absent fourth finger distal interphalangeal crease	HP:0005780
5932	RBBP8	Retrognathia	HP:0000278
5932	RBBP8	Hallux valgus	HP:0001822
5932	RBBP8	Sparse scalp hair	HP:0002209
5932	RBBP8	Cerebellar hypoplasia	HP:0001321
5932	RBBP8	Abnormality of dental enamel	HP:0000682
5932	RBBP8	Microglossia	HP:0000171
5932	RBBP8	Hypospadias	HP:0000047
5932	RBBP8	Microdontia	HP:0000691
5932	RBBP8	Microphthalmia	HP:0000568
5932	RBBP8	Congenital microcephaly	HP:0011451
5932	RBBP8	Convex nasal ridge	HP:0000444
5932	RBBP8	Sandal gap	HP:0001852
5932	RBBP8	Joint hyperflexibility	HP:0005692
5932	RBBP8	Delayed skeletal maturation	HP:0002750
5932	RBBP8	Cognitive impairment	HP:0100543
5932	RBBP8	Prominent nose	HP:0000448
5932	RBBP8	Heart murmur	HP:0030148
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	4-5 toe syndactyly	HP:0004692
5932	RBBP8	High pitched voice	HP:0001620
5932	RBBP8	Narrow forehead	HP:0000341
5932	RBBP8	Ectopic kidney	HP:0000086
5932	RBBP8	Scoliosis	HP:0002650
5932	RBBP8	Micrognathia	HP:0000347
5932	RBBP8	Intellectual disability	HP:0001249
5932	RBBP8	Short stature	HP:0004322
5932	RBBP8	Cachexia	HP:0004326
5932	RBBP8	Growth delay	HP:0001510
5932	RBBP8	Intrauterine growth retardation	HP:0001511
5932	RBBP8	Hip dysplasia	HP:0001385
5932	RBBP8	Downslanted palpebral fissures	HP:0000494
5932	RBBP8	Small for gestational age	HP:0001518
5932	RBBP8	Global developmental delay	HP:0001263
5932	RBBP8	Clinodactyly of the 5th finger	HP:0004209
5932	RBBP8	Glaucoma	HP:0000501
5932	RBBP8	Microcephaly	HP:0000252
5932	RBBP8	Short middle phalanx of the 5th finger	HP:0004220
5932	RBBP8	Thoracic scoliosis	HP:0002943
55084	SOBP	Short attention span	HP:0000736
55084	SOBP	Intellectual disability, severe	HP:0010864
55084	SOBP	Poor speech	HP:0002465
55084	SOBP	Esotropia	HP:0000565
55084	SOBP	Psychosis	HP:0000709
55084	SOBP	Amblyopia	HP:0000646
55084	SOBP	Autosomal recessive inheritance	HP:0000007
55084	SOBP	Open bite	HP:0010807
55084	SOBP	Hypermetropia	HP:0000540
55084	SOBP	Delayed speech and language development	HP:0000750
55084	SOBP	Global developmental delay	HP:0001263
161582	DNAAF4	Situs inversus totalis	HP:0001696
161582	DNAAF4	Recurrent sinusitis	HP:0011108
161582	DNAAF4	Infertility	HP:0000789
161582	DNAAF4	Autosomal recessive inheritance	HP:0000007
161582	DNAAF4	Immotile cilia	HP:0012263
161582	DNAAF4	Infantile onset	HP:0003593
161582	DNAAF4	Ciliary dyskinesia	HP:0012265
161582	DNAAF4	Recurrent respiratory infections	HP:0002205
161582	DNAAF4	Chronic obstructive pulmonary disease	HP:0006510
161582	DNAAF4	Bronchiectasis	HP:0002110
5940	RBMY1A1	Male infertility	HP:0003251
5940	RBMY1A1	Non-obstructive azoospermia	HP:0011961
5940	RBMY1A1	Y-linked inheritance	HP:0001450
5940	RBMY1A1	Azoospermia	HP:0000027
5940	RBMY1A1	Cryptorchidism	HP:0000028
5940	RBMY1A1	Oligospermia	HP:0000798
5940	RBMY1A1	Decreased testicular size	HP:0008734
5949	RBP3	Abnormal electroretinogram	HP:0000512
5949	RBP3	Hyperreflexia	HP:0001347
5949	RBP3	Cataract	HP:0000518
5949	RBP3	Autosomal dominant inheritance	HP:0000006
5949	RBP3	Autosomal recessive inheritance	HP:0000007
5949	RBP3	Hypogonadism	HP:0000135
5949	RBP3	Optic atrophy	HP:0000648
5949	RBP3	Hyperinsulinemia	HP:0000842
5949	RBP3	X-linked recessive inheritance	HP:0001419
5949	RBP3	Anteverted nares	HP:0000463
5949	RBP3	Conductive hearing impairment	HP:0000405
5949	RBP3	Nyctalopia	HP:0000662
5949	RBP3	Sensorineural hearing impairment	HP:0000407
5949	RBP3	Abnormality of retinal pigmentation	HP:0007703
5949	RBP3	Ophthalmoplegia	HP:0000602
5949	RBP3	Type II diabetes mellitus	HP:0005978
5949	RBP3	Central scotoma	HP:0000603
5949	RBP3	Atypical scarring of skin	HP:0000987
5949	RBP3	Optic disc pallor	HP:0000543
5949	RBP3	Hypoplasia of penis	HP:0008736
5949	RBP3	Intellectual disability	HP:0001249
5949	RBP3	Abnormal testis morphology	HP:0000035
5949	RBP3	Photophobia	HP:0000613
5949	RBP3	Obesity	HP:0001513
5949	RBP3	Blindness	HP:0000618
5949	RBP3	Posterior subcapsular cataract	HP:0007787
5949	RBP3	Constriction of peripheral visual field	HP:0001133
5949	RBP3	Abnormal retinal vascular morphology	HP:0008046
5949	RBP3	Reduced visual acuity	HP:0007663
5949	RBP3	Wide nasal bridge	HP:0000431
5949	RBP3	Keratoconus	HP:0000563
5949	RBP3	Glaucoma	HP:0000501
5949	RBP3	Abnormality of fundus pigmentation	HP:0031605
5949	RBP3	Progressive night blindness	HP:0007675
5949	RBP3	Rod-cone dystrophy	HP:0000510
5949	RBP3	Nystagmus	HP:0000639
5950	RBP4	Microcornea	HP:0000482
5950	RBP4	Iris coloboma	HP:0000612
5950	RBP4	Peripheral retinal atrophy	HP:0200070
5950	RBP4	Autosomal dominant inheritance	HP:0000006
5950	RBP4	Autosomal recessive inheritance	HP:0000007
5950	RBP4	Comedonal acne	HP:0040137
5950	RBP4	Absent foveal reflex	HP:0030825
5950	RBP4	Patent ductus arteriosus	HP:0001643
5950	RBP4	Retinal dystrophy	HP:0000556
5950	RBP4	Reduced visual acuity	HP:0007663
5950	RBP4	Anophthalmia	HP:0000528
5950	RBP4	Microcoria	HP:0025492
5950	RBP4	Chorioretinal coloboma	HP:0000567
5950	RBP4	Microphthalmia	HP:0000568
169792	GLIS3	Hepatomegaly	HP:0002240
169792	GLIS3	Thoracolumbar scoliosis	HP:0002944
169792	GLIS3	Portal hypertension	HP:0001409
169792	GLIS3	Umbilical hernia	HP:0001537
169792	GLIS3	Wide anterior fontanel	HP:0000260
169792	GLIS3	Choanal atresia	HP:0000453
169792	GLIS3	Autosomal recessive inheritance	HP:0000007
169792	GLIS3	Pancreatic cysts	HP:0001737
169792	GLIS3	Splenomegaly	HP:0001744
169792	GLIS3	Congenital hypothyroidism	HP:0000851
169792	GLIS3	Hepatitis	HP:0012115
169792	GLIS3	Long philtrum	HP:0000343
169792	GLIS3	Splenic cyst	HP:0030423
169792	GLIS3	Sensorineural hearing impairment	HP:0000407
169792	GLIS3	Sagittal craniosynostosis	HP:0004442
169792	GLIS3	Thin upper lip vermilion	HP:0000219
169792	GLIS3	Epicanthus	HP:0000286
169792	GLIS3	Recurrent infections	HP:0002719
169792	GLIS3	Depressed nasal bridge	HP:0005280
169792	GLIS3	Pancreatic hypoplasia	HP:0002594
169792	GLIS3	Intrauterine growth retardation	HP:0001511
169792	GLIS3	Osteopenia	HP:0000938
169792	GLIS3	Buphthalmos	HP:0000557
169792	GLIS3	Global developmental delay	HP:0001263
169792	GLIS3	Polycystic kidney dysplasia	HP:0000113
169792	GLIS3	Low-set ears	HP:0000369
169792	GLIS3	Diabetes mellitus	HP:0000819
169792	GLIS3	Hepatic fibrosis	HP:0001395
169792	GLIS3	Hiatus hernia	HP:0002036
169792	GLIS3	Cholestasis	HP:0001396
5956	OPN1LW	Abnormal electroretinogram	HP:0000512
5956	OPN1LW	Myopia	HP:0000545
5956	OPN1LW	Abnormality of macular pigmentation	HP:0008002
5956	OPN1LW	Blue cone monochromacy	HP:0007939
5956	OPN1LW	Photophobia	HP:0000613
5956	OPN1LW	Color vision defect	HP:0000551
5956	OPN1LW	X-linked recessive inheritance	HP:0001419
5956	OPN1LW	Corneal dystrophy	HP:0001131
5956	OPN1LW	Pendular nystagmus	HP:0012043
5956	OPN1LW	Reduced visual acuity	HP:0007663
5956	OPN1LW	Protanomaly	HP:0200018
5956	OPN1LW	Nyctalopia	HP:0000662
5956	OPN1LW	Abnormality of retinal pigmentation	HP:0007703
5956	OPN1LW	Visual impairment	HP:0000505
5956	OPN1LW	Nystagmus	HP:0000639
55109	AGGF1	Hepatomegaly	HP:0002240
55109	AGGF1	Macrocephaly	HP:0000256
55109	AGGF1	Prolonged bleeding time	HP:0003010
55109	AGGF1	Hemangioma	HP:0001028
55109	AGGF1	Ascites	HP:0001541
55109	AGGF1	Venous thrombosis	HP:0004936
55109	AGGF1	Abnormality of the menstrual cycle	HP:0000140
55109	AGGF1	Lower limb asymmetry	HP:0100559
55109	AGGF1	Microcytic anemia	HP:0001935
55109	AGGF1	Upper limb asymmetry	HP:0100560
55109	AGGF1	Hematuria	HP:0000790
55109	AGGF1	Pulmonary embolism	HP:0002204
55109	AGGF1	Atrial septal defect	HP:0001631
55109	AGGF1	Intellectual disability	HP:0001249
55109	AGGF1	Tall stature	HP:0000098
55109	AGGF1	Congestive heart failure	HP:0001635
55109	AGGF1	Abnormal tricuspid valve morphology	HP:0001702
55109	AGGF1	Patent ductus arteriosus	HP:0001643
55109	AGGF1	Respiratory insufficiency	HP:0002093
55109	AGGF1	Venous insufficiency	HP:0005293
55109	AGGF1	Peripheral arteriovenous fistula	HP:0100784
55109	AGGF1	Cellulitis	HP:0100658
55109	AGGF1	Hypercoagulability	HP:0100724
55109	AGGF1	Microcephaly	HP:0000252
55109	AGGF1	Hydrops fetalis	HP:0001789
55109	AGGF1	Abnormality of the pulmonary artery	HP:0004414
55109	AGGF1	Gastrointestinal hemorrhage	HP:0002239
5959	RDH5	Fundus albipunctatus	HP:0030642
5959	RDH5	Autosomal dominant inheritance	HP:0000006
5959	RDH5	Autosomal recessive inheritance	HP:0000007
145226	RDH12	Abnormal electroretinogram	HP:0000512
145226	RDH12	Hyperreflexia	HP:0001347
145226	RDH12	Autosomal dominant inheritance	HP:0000006
145226	RDH12	Cataract	HP:0000518
145226	RDH12	Autosomal recessive inheritance	HP:0000007
145226	RDH12	Hypogonadism	HP:0000135
145226	RDH12	Optic atrophy	HP:0000648
145226	RDH12	Hyperinsulinemia	HP:0000842
145226	RDH12	Anteverted nares	HP:0000463
145226	RDH12	Conductive hearing impairment	HP:0000405
145226	RDH12	Hemiplegia/hemiparesis	HP:0004374
145226	RDH12	Sensorineural hearing impairment	HP:0000407
145226	RDH12	Abnormality of retinal pigmentation	HP:0007703
145226	RDH12	Ophthalmoplegia	HP:0000602
145226	RDH12	Type II diabetes mellitus	HP:0005978
145226	RDH12	Atypical scarring of skin	HP:0000987
145226	RDH12	Abnormality of neuronal migration	HP:0002269
145226	RDH12	Hypoplasia of penis	HP:0008736
145226	RDH12	Intellectual disability	HP:0001249
145226	RDH12	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
145226	RDH12	Seizures	HP:0001250
145226	RDH12	Abnormal testis morphology	HP:0000035
145226	RDH12	Encephalocele	HP:0002084
145226	RDH12	Muscular hypotonia	HP:0001252
145226	RDH12	Photophobia	HP:0000613
145226	RDH12	Obesity	HP:0001513
145226	RDH12	Blindness	HP:0000618
145226	RDH12	Retinal dystrophy	HP:0000556
145226	RDH12	Hearing impairment	HP:0000365
145226	RDH12	Abnormal retinal vascular morphology	HP:0008046
145226	RDH12	Wide nasal bridge	HP:0000431
145226	RDH12	Global developmental delay	HP:0001263
145226	RDH12	Keratoconus	HP:0000563
145226	RDH12	Glaucoma	HP:0000501
145226	RDH12	Severely reduced visual acuity	HP:0001141
145226	RDH12	Progressive night blindness	HP:0007675
145226	RDH12	Abnormality of the optic disc	HP:0012795
145226	RDH12	Nystagmus	HP:0000639
55112	WDR60	Macrocephaly	HP:0000256
55112	WDR60	Omphalocele	HP:0001539
55112	WDR60	Brachydactyly	HP:0001156
55112	WDR60	Abnormality of the ribs	HP:0000772
55112	WDR60	Short ribs	HP:0000773
55112	WDR60	Narrow chest	HP:0000774
55112	WDR60	Cataract	HP:0000518
55112	WDR60	Autosomal recessive inheritance	HP:0000007
55112	WDR60	Syndactyly	HP:0001159
55112	WDR60	Postaxial hand polydactyly	HP:0001162
55112	WDR60	Urethrovaginal fistula	HP:0008716
55112	WDR60	Abnormal pelvis bone ossification	HP:0009106
55112	WDR60	Abnormality of retinal pigmentation	HP:0007703
55112	WDR60	Polyhydramnios	HP:0001561
55112	WDR60	Dandy-Walker malformation	HP:0001305
55112	WDR60	Preaxial hand polydactyly	HP:0001177
55112	WDR60	Cryptorchidism	HP:0000028
55112	WDR60	Epicanthus	HP:0000286
55112	WDR60	Depressed nasal bridge	HP:0005280
55112	WDR60	Hypoplasia of penis	HP:0008736
55112	WDR60	Postaxial polydactyly	HP:0100259
55112	WDR60	Preaxial polydactyly	HP:0100258
55112	WDR60	Femoral bowing	HP:0002980
55112	WDR60	Postaxial foot polydactyly	HP:0001830
55112	WDR60	Micromelia	HP:0002983
55112	WDR60	Feeding difficulties in infancy	HP:0008872
55112	WDR60	Pulmonary hypoplasia	HP:0002089
55112	WDR60	Disproportionate short-limb short stature	HP:0008873
55112	WDR60	Cerebellar hypoplasia	HP:0001321
55112	WDR60	Respiratory insufficiency	HP:0002093
55112	WDR60	Ectopic anus	HP:0004397
55112	WDR60	Aplasia/Hypoplasia of the lungs	HP:0006703
55112	WDR60	Abnormality of the metaphysis	HP:0000944
55112	WDR60	Uterus didelphys	HP:0003762
55112	WDR60	Congenital hepatic fibrosis	HP:0002612
55112	WDR60	Short palm	HP:0004279
55112	WDR60	Bifid tongue	HP:0010297
55112	WDR60	Wide nose	HP:0000445
55112	WDR60	Ambiguous genitalia	HP:0000062
55112	WDR60	Short thorax	HP:0010306
55112	WDR60	Bifid epiglottis	HP:0010564
55112	WDR60	Abdominal distention	HP:0003270
55112	WDR60	Cleft upper lip	HP:0000204
55112	WDR60	Short long bone	HP:0003026
55112	WDR60	Renal insufficiency	HP:0000083
55112	WDR60	Cone-shaped epiphysis	HP:0010579
55112	WDR60	Lethal skeletal dysplasia	HP:0005716
55112	WDR60	Abnormality of pelvic girdle bone morphology	HP:0002644
55112	WDR60	Acetabular spurs	HP:0010454
55112	WDR60	Facial cleft	HP:0002006
55112	WDR60	Frontal bossing	HP:0002007
55112	WDR60	Long philtrum	HP:0000343
55112	WDR60	Abnormality of cardiovascular system morphology	HP:0030680
55112	WDR60	Renal hypoplasia	HP:0000089
55112	WDR60	Nephronophthisis	HP:0000090
55112	WDR60	Micrognathia	HP:0000347
55112	WDR60	Skeletal dysplasia	HP:0002652
55112	WDR60	Ventricular septal defect	HP:0001629
55112	WDR60	Short stature	HP:0004322
55112	WDR60	Failure to thrive	HP:0001508
55112	WDR60	Anal atresia	HP:0002023
55112	WDR60	Toe syndactyly	HP:0001770
55112	WDR60	Renal cyst	HP:0000107
55112	WDR60	Short foot	HP:0001773
55112	WDR60	Esophageal atresia	HP:0002032
55112	WDR60	Abnormality of the liver	HP:0001392
55112	WDR60	Nephropathy	HP:0000112
55112	WDR60	Thoracic dysplasia	HP:0006644
55112	WDR60	Absent or minimally ossified vertebral bodies	HP:0004599
55112	WDR60	Abnormality of the clavicle	HP:0000889
55112	WDR60	Agenesis of corpus callosum	HP:0001274
55112	WDR60	Pancreatic fibrosis	HP:0100732
55112	WDR60	Hydrops fetalis	HP:0001789
55112	WDR60	Hydronephrosis	HP:0000126
55112	WDR60	Abnormality of the sternum	HP:0000766
55112	WDR60	Lateral clavicle hook	HP:0000895
5961	PRPH2	Abnormal electroretinogram	HP:0000512
5961	PRPH2	Autosomal dominant inheritance	HP:0000006
5961	PRPH2	Retinal pigment epithelial mottling	HP:0007814
5961	PRPH2	Cataract	HP:0000518
5961	PRPH2	Autosomal recessive inheritance	HP:0000007
5961	PRPH2	Hypogonadism	HP:0000135
5961	PRPH2	Optic atrophy	HP:0000648
5961	PRPH2	Abnormality of visual evoked potentials	HP:0000649
5961	PRPH2	Conductive hearing impairment	HP:0000405
5961	PRPH2	Chorioretinal atrophy	HP:0000533
5961	PRPH2	Nyctalopia	HP:0000662
5961	PRPH2	Adult-onset night blindness	HP:0007830
5961	PRPH2	Abnormality of retinal pigmentation	HP:0007703
5961	PRPH2	Sensorineural hearing impairment	HP:0000407
5961	PRPH2	Paroxysmal involuntary eye movements	HP:0007704
5961	PRPH2	Hypoplasia of penis	HP:0008736
5961	PRPH2	Abnormal testis morphology	HP:0000035
5961	PRPH2	Attenuation of retinal blood vessels	HP:0007843
5961	PRPH2	Yellow/white lesions of the macula	HP:0030500
5961	PRPH2	Color vision defect	HP:0000551
5961	PRPH2	Retinal pigment epithelial atrophy	HP:0007722
5961	PRPH2	Wide nasal bridge	HP:0000431
5961	PRPH2	Fundus albipunctatus	HP:0030642
5961	PRPH2	Iris hypopigmentation	HP:0007730
5961	PRPH2	Keratoconus	HP:0000563
5961	PRPH2	Dark choroid	HP:0025148
5961	PRPH2	Abnormality of macular pigmentation	HP:0008002
5961	PRPH2	Hyperreflexia	HP:0001347
5961	PRPH2	Pigmentary retinopathy	HP:0000580
5961	PRPH2	Macular dystrophy	HP:0007754
5961	PRPH2	Hyperinsulinemia	HP:0000842
5961	PRPH2	Anteverted nares	HP:0000463
5961	PRPH2	Ophthalmoplegia	HP:0000602
5961	PRPH2	Type II diabetes mellitus	HP:0005978
5961	PRPH2	Central scotoma	HP:0000603
5961	PRPH2	Atypical scarring of skin	HP:0000987
5961	PRPH2	Retinal nonattachment	HP:0007899
5961	PRPH2	Metamorphopsia	HP:0012508
5961	PRPH2	Macular degeneration	HP:0000608
5961	PRPH2	Intellectual disability	HP:0001249
5961	PRPH2	Abnormal choroid morphology	HP:0000610
5961	PRPH2	Visual field defect	HP:0001123
5961	PRPH2	Photophobia	HP:0000613
5961	PRPH2	Macular atrophy	HP:0007401
5961	PRPH2	Obesity	HP:0001513
5961	PRPH2	Reticular retinal dystrophy	HP:0007913
5961	PRPH2	Blindness	HP:0000618
5961	PRPH2	Abnormal foveal morphology	HP:0000493
5961	PRPH2	Constriction of peripheral visual field	HP:0001133
5961	PRPH2	Abnormal retinal vascular morphology	HP:0008046
5961	PRPH2	Reduced visual acuity	HP:0007663
5961	PRPH2	Choroidal neovascularization	HP:0011506
5961	PRPH2	Choroideremia	HP:0001139
5961	PRPH2	Glaucoma	HP:0000501
5961	PRPH2	Drusen	HP:0011510
5961	PRPH2	Retinal thinning	HP:0030329
5961	PRPH2	Visual impairment	HP:0000505
5961	PRPH2	Aplasia/Hypoplasia of the macula	HP:0008059
5961	PRPH2	Progressive night blindness	HP:0007675
5961	PRPH2	Vitelliform-like macular lesions	HP:0007677
5961	PRPH2	Rod-cone dystrophy	HP:0000510
5961	PRPH2	Nystagmus	HP:0000639
5962	RDX	Profound sensorineural hearing impairment	HP:0011476
5962	RDX	Autosomal recessive inheritance	HP:0000007
5962	RDX	Infantile onset	HP:0003593
440138	ALG11	Feeding difficulties	HP:0011968
440138	ALG11	Absent speech	HP:0001344
440138	ALG11	Seizures	HP:0001250
440138	ALG11	Opisthotonus	HP:0002179
440138	ALG11	Strabismus	HP:0000486
440138	ALG11	Neonatal hypotonia	HP:0001319
440138	ALG11	Autosomal recessive inheritance	HP:0000007
440138	ALG11	Infantile onset	HP:0003593
440138	ALG11	Psychomotor retardation	HP:0025356
440138	ALG11	Global developmental delay	HP:0001263
440138	ALG11	Temperature instability	HP:0005968
440138	ALG11	Inverted nipples	HP:0003186
440138	ALG11	Sensorineural hearing impairment	HP:0000407
440138	ALG11	Type I transferrin isoform profile	HP:0003642
440138	ALG11	High forehead	HP:0000348
440138	ALG11	Microcephaly	HP:0000252
440138	ALG11	Vomiting	HP:0002013
55120	FANCL	Umbilical hernia	HP:0001537
55120	FANCL	Duodenal stenosis	HP:0100867
55120	FANCL	Cataract	HP:0000518
55120	FANCL	Autosomal recessive inheritance	HP:0000007
55120	FANCL	Abnormality of femur morphology	HP:0002823
55120	FANCL	Proptosis	HP:0000520
55120	FANCL	Decreased fertility in males	HP:0012041
55120	FANCL	Recurrent urinary tract infections	HP:0000010
55120	FANCL	Hip dislocation	HP:0002827
55120	FANCL	Dolichocephaly	HP:0000268
55120	FANCL	Tracheoesophageal fistula	HP:0002575
55120	FANCL	Oligohydramnios	HP:0001562
55120	FANCL	Azoospermia	HP:0000027
55120	FANCL	Cryptorchidism	HP:0000028
55120	FANCL	Hypopigmented skin patches	HP:0001053
55120	FANCL	Epicanthus	HP:0000286
55120	FANCL	Weight loss	HP:0001824
55120	FANCL	Bicornuate uterus	HP:0000813
55120	FANCL	Myelodysplasia	HP:0002863
55120	FANCL	Hypospadias	HP:0000047
55120	FANCL	Absent thumb	HP:0009777
55120	FANCL	Aplasia/Hypoplasia of the uvula	HP:0010293
55120	FANCL	Micropenis	HP:0000054
55120	FANCL	Microphthalmia	HP:0000568
55120	FANCL	Hypertelorism	HP:0000316
55120	FANCL	Hyperreflexia	HP:0001347
55120	FANCL	Facial asymmetry	HP:0000324
55120	FANCL	Upslanted palpebral fissure	HP:0000582
55120	FANCL	Ventriculomegaly	HP:0002119
55120	FANCL	Hydroureter	HP:0000072
55120	FANCL	Chromosome breakage	HP:0040012
55120	FANCL	Thrombocytopenia	HP:0001873
55120	FANCL	Renal insufficiency	HP:0000083
55120	FANCL	Sloping forehead	HP:0000340
55120	FANCL	Renal hypoplasia	HP:0000089
55120	FANCL	Scoliosis	HP:0002650
55120	FANCL	Leukopenia	HP:0001882
55120	FANCL	Micrognathia	HP:0000347
55120	FANCL	Atrial septal defect	HP:0001631
55120	FANCL	Abnormality of the hypothalamus-pituitary axis	HP:0000864
55120	FANCL	Tetralogy of Fallot	HP:0001636
55120	FANCL	Aplasia/Hypoplasia of the radius	HP:0006501
55120	FANCL	Microtia	HP:0008551
55120	FANCL	Hypertrophic cardiomyopathy	HP:0001639
55120	FANCL	Patent ductus arteriosus	HP:0001643
55120	FANCL	Hearing impairment	HP:0000365
55120	FANCL	Abnormal aortic valve morphology	HP:0001646
55120	FANCL	Spina bifida	HP:0002414
55120	FANCL	Anemia	HP:0001903
55120	FANCL	Abnormality of the liver	HP:0001392
55120	FANCL	Clinodactyly of the 5th finger	HP:0004209
55120	FANCL	Aplasia/Hypoplasia of the iris	HP:0008053
55120	FANCL	Aplasia/Hypoplasia of fingers	HP:0006265
55120	FANCL	External ear malformation	HP:0008572
55120	FANCL	Nystagmus	HP:0000639
55120	FANCL	Hypogonadism	HP:0000135
55120	FANCL	Multiple cafe-au-lait spots	HP:0007565
55120	FANCL	Abnormal aortic morphology	HP:0001679
55120	FANCL	Pyridoxine-responsive sideroblastic anemia	HP:0005522
55120	FANCL	Abnormality of chromosome stability	HP:0003220
55120	FANCL	Bone marrow hypocellularity	HP:0005528
55120	FANCL	Clubbing of toes	HP:0100760
55120	FANCL	Depressed nasal bridge	HP:0005280
55120	FANCL	Cranial nerve paralysis	HP:0006824
55120	FANCL	Cleft palate	HP:0000175
55120	FANCL	Wide nasal bridge	HP:0000431
55120	FANCL	Triphalangeal thumb	HP:0001199
55120	FANCL	Arteriovenous malformation	HP:0100026
55120	FANCL	Cafe-au-lait spot	HP:0000957
55120	FANCL	Abnormal localization of kidney	HP:0100542
55120	FANCL	Almond-shaped palpebral fissure	HP:0007874
55120	FANCL	Meckel diverticulum	HP:0002245
55120	FANCL	Choanal atresia	HP:0000453
55120	FANCL	Short palpebral fissure	HP:0012745
55120	FANCL	Aganglionic megacolon	HP:0002251
55120	FANCL	Hypoplasia of the ulna	HP:0003022
55120	FANCL	Abnormal facial shape	HP:0001999
55120	FANCL	Finger syndactyly	HP:0006101
55120	FANCL	Short neck	HP:0000470
55120	FANCL	Frontal bossing	HP:0002007
55120	FANCL	High palate	HP:0000218
55120	FANCL	Abnormal carotid artery morphology	HP:0005344
55120	FANCL	Intellectual disability	HP:0001249
55120	FANCL	Short stature	HP:0004322
55120	FANCL	Pes planus	HP:0001763
55120	FANCL	Astigmatism	HP:0000483
55120	FANCL	Absent testis	HP:0010469
55120	FANCL	Renal hypoplasia/aplasia	HP:0008678
55120	FANCL	Strabismus	HP:0000486
55120	FANCL	Anal atresia	HP:0002023
55120	FANCL	Intrauterine growth retardation	HP:0001511
55120	FANCL	Irregular hyperpigmentation	HP:0007400
55120	FANCL	Toe syndactyly	HP:0001770
55120	FANCL	Abnormality of the preputium	HP:0100587
55120	FANCL	Hydrocephalus	HP:0000238
55120	FANCL	Global developmental delay	HP:0001263
55120	FANCL	Esophageal atresia	HP:0002032
55120	FANCL	Visual impairment	HP:0000505
55120	FANCL	Microcephaly	HP:0000252
55120	FANCL	Ptosis	HP:0000508
55120	FANCL	Reduced bone mineral density	HP:0004349
5970	RELA	Seizures	HP:0001250
5970	RELA	Supratentorial neoplasm	HP:0030693
5970	RELA	Ovarian neoplasm	HP:0100615
5970	RELA	Gait disturbance	HP:0001288
5970	RELA	Ependymoma	HP:0002888
5970	RELA	Neoplasm of the breast	HP:0100013
5970	RELA	Neoplasm of the lung	HP:0100526
5970	RELA	Neoplasm of the liver	HP:0002896
5970	RELA	Pain	HP:0012531
5970	RELA	Abnormal cell morphology	HP:0025461
5970	RELA	Dysesthesia	HP:0012534
5970	RELA	Distal muscle weakness	HP:0002460
5970	RELA	Migraine	HP:0002076
5970	RELA	Vomiting	HP:0002013
5970	RELA	Spinal cord tumor	HP:0010302
5971	RELB	Recurrent infections	HP:0002719
5972	REN	Focal segmental glomerulosclerosis	HP:0000097
5972	REN	Hyperuricemia	HP:0002149
5972	REN	Autosomal dominant inheritance	HP:0000006
5972	REN	Anuria	HP:0100519
5972	REN	Autosomal recessive inheritance	HP:0000007
5972	REN	Tubulointerstitial fibrosis	HP:0005576
5972	REN	Pulmonary hypoplasia	HP:0002089
5972	REN	Widely patent fontanelles and sutures	HP:0004492
5972	REN	Respiratory insufficiency	HP:0002093
5972	REN	Chronic kidney disease	HP:0012622
5972	REN	Anemia	HP:0001903
5972	REN	Hyperechogenic kidneys	HP:0004719
5972	REN	Abnormality of the urinary system	HP:0000079
5972	REN	Renotubular dysgenesis	HP:0008660
5972	REN	Hypotension	HP:0002615
5972	REN	Renal hypoplasia	HP:0000089
5972	REN	Potter facies	HP:0002009
5972	REN	Oligohydramnios	HP:0001562
5972	REN	Tubular atrophy	HP:0000092
5972	REN	Microcephaly	HP:0000252
5977	DPF2	Clinodactyly	HP:0030084
5977	DPF2	Brachydactyly	HP:0001156
5977	DPF2	Cataract	HP:0000518
5977	DPF2	Abnormal cardiac septum morphology	HP:0001671
5977	DPF2	Congenital diaphragmatic hernia	HP:0000776
5977	DPF2	Long eyelashes	HP:0000527
5977	DPF2	Macrotia	HP:0000400
5977	DPF2	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	HP:0100371
5977	DPF2	Recurrent otitis media	HP:0000403
5977	DPF2	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	HP:0009239
5977	DPF2	Coarse facial features	HP:0000280
5977	DPF2	Dandy-Walker malformation	HP:0001305
5977	DPF2	Wide mouth	HP:0000154
5977	DPF2	Short distal phalanx of finger	HP:0009882
5977	DPF2	Hypermetropia	HP:0000540
5977	DPF2	Cryptorchidism	HP:0000028
5977	DPF2	Recurrent respiratory infections	HP:0002205
5977	DPF2	Epicanthus	HP:0000286
5977	DPF2	Hypoplasia of the corpus callosum	HP:0002079
5977	DPF2	Depressed nasal bridge	HP:0005280
5977	DPF2	Broad philtrum	HP:0000289
5977	DPF2	Hypoplastic fifth toenail	HP:0011937
5977	DPF2	Abnormality of the dentition	HP:0000164
5977	DPF2	Feeding difficulties in infancy	HP:0008872
5977	DPF2	Slow-growing hair	HP:0002217
5977	DPF2	Bilateral single transverse palmar creases	HP:0007598
5977	DPF2	Wide nasal bridge	HP:0000431
5977	DPF2	Cleft palate	HP:0000175
5977	DPF2	Microdontia	HP:0000691
5977	DPF2	Thick lower lip vermilion	HP:0000179
5977	DPF2	Generalized hirsutism	HP:0002230
5977	DPF2	Partial agenesis of the corpus callosum	HP:0001338
5977	DPF2	Hypertelorism	HP:0000316
5977	DPF2	Joint hyperflexibility	HP:0005692
5977	DPF2	Thick eyebrow	HP:0000574
5977	DPF2	Feeding difficulties	HP:0011968
5977	DPF2	Delayed ability to walk	HP:0031936
5977	DPF2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
5977	DPF2	Short philtrum	HP:0000322
5977	DPF2	Cutis marmorata	HP:0000965
5977	DPF2	Abnormality of the hip bone	HP:0003272
5977	DPF2	Depressed nasal ridge	HP:0000457
5977	DPF2	Hypoplastic fifth fingernail	HP:0008398
5977	DPF2	Obsessive-compulsive behavior	HP:0000722
5977	DPF2	Prominent forehead	HP:0011220
5977	DPF2	Ectopic kidney	HP:0000086
5977	DPF2	Abnormality of cardiovascular system morphology	HP:0030680
5977	DPF2	Sagittal craniosynostosis	HP:0004442
5977	DPF2	Scoliosis	HP:0002650
5977	DPF2	Thin upper lip vermilion	HP:0000219
5977	DPF2	Intellectual disability	HP:0001249
5977	DPF2	Short stature	HP:0004322
5977	DPF2	Spina bifida occulta	HP:0003298
5977	DPF2	Seizures	HP:0001250
5977	DPF2	Elbow dislocation	HP:0003042
5977	DPF2	Aplasia/Hypoplasia of the patella	HP:0006498
5977	DPF2	Constipation	HP:0002019
5977	DPF2	Muscular hypotonia	HP:0001252
5977	DPF2	Posteriorly rotated ears	HP:0000358
5977	DPF2	Strabismus	HP:0000486
5977	DPF2	Renal hypoplasia/aplasia	HP:0008678
5977	DPF2	Intrauterine growth retardation	HP:0001511
5977	DPF2	Hearing impairment	HP:0000365
5977	DPF2	Delayed speech and language development	HP:0000750
5977	DPF2	Downslanted palpebral fissures	HP:0000494
5977	DPF2	Global developmental delay	HP:0001263
5977	DPF2	Hyperactivity	HP:0000752
5977	DPF2	Low-set ears	HP:0000369
5977	DPF2	Coxa valga	HP:0002673
5977	DPF2	Trigonocephaly	HP:0000243
5977	DPF2	Abnormality of the intervertebral disk	HP:0005108
5977	DPF2	Kyphosis	HP:0002808
5977	DPF2	Lacrimation abnormality	HP:0000632
5977	DPF2	Abnormality of the clavicle	HP:0000889
5977	DPF2	Microcephaly	HP:0000252
5977	DPF2	Ptosis	HP:0000508
5977	DPF2	Hydronephrosis	HP:0000126
5977	DPF2	Nystagmus	HP:0000639
55129	ANO10	Saccadic smooth pursuit	HP:0001152
55129	ANO10	Dysmetric saccades	HP:0000641
55129	ANO10	EMG abnormality	HP:0003457
55129	ANO10	Hyperreflexia	HP:0001347
55129	ANO10	Brisk reflexes	HP:0001348
55129	ANO10	Slurred speech	HP:0001350
55129	ANO10	Cataract	HP:0000518
55129	ANO10	Autosomal recessive inheritance	HP:0000007
55129	ANO10	Progressive gait ataxia	HP:0007240
55129	ANO10	Leg muscle stiffness	HP:0008969
55129	ANO10	Diplopia	HP:0000651
55129	ANO10	Fasciculations	HP:0002380
55129	ANO10	Gait ataxia	HP:0002066
55129	ANO10	Generalized-onset seizure	HP:0002197
55129	ANO10	Limb ataxia	HP:0002070
55129	ANO10	Progressive cerebellar ataxia	HP:0002073
55129	ANO10	Horizontal nystagmus	HP:0000666
55129	ANO10	Abnormal enzyme/coenzyme activity	HP:0012379
55129	ANO10	Truncal ataxia	HP:0002078
55129	ANO10	Dysmetria	HP:0001310
55129	ANO10	Intention tremor	HP:0002080
55129	ANO10	Macular degeneration	HP:0000608
55129	ANO10	Pes cavus	HP:0001761
55129	ANO10	Intellectual disability	HP:0001249
55129	ANO10	Intellectual disability, mild	HP:0001256
55129	ANO10	Hypermetric saccades	HP:0007338
55129	ANO10	Dysarthria	HP:0001260
55129	ANO10	Downbeat nystagmus	HP:0010545
55129	ANO10	Tortuosity of conjunctival vessels	HP:0000503
55129	ANO10	Ankle clonus	HP:0011448
55129	ANO10	Cerebellar atrophy	HP:0001272
55129	ANO10	Ptosis	HP:0000508
55129	ANO10	Nystagmus	HP:0000639
55130	ARMC4	Situs inversus totalis	HP:0001696
55130	ARMC4	Rhinitis	HP:0012384
55130	ARMC4	Recurrent otitis media	HP:0000403
55130	ARMC4	Recurrent sinusitis	HP:0011108
55130	ARMC4	Chronic bronchitis	HP:0004469
55130	ARMC4	Autosomal recessive inheritance	HP:0000007
55130	ARMC4	Ciliary dyskinesia	HP:0012265
55130	ARMC4	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
55130	ARMC4	Recurrent respiratory infections	HP:0002205
55130	ARMC4	Bronchiectasis	HP:0002110
5978	REST	Weight loss	HP:0001824
5978	REST	Neoplasm of the liver	HP:0002896
5978	REST	Gingival overgrowth	HP:0000212
5978	REST	Hypertension	HP:0000822
5978	REST	Hematuria	HP:0000790
5978	REST	Gingival fibromatosis	HP:0000169
5978	REST	Fever	HP:0001945
5978	REST	Nephroblastoma	HP:0002667
5978	REST	Abdominal pain	HP:0002027
5978	REST	Lymphadenopathy	HP:0002716
5978	REST	Aniridia	HP:0000526
5978	REST	Neoplasm of the lung	HP:0100526
5979	RET	Hypercalcemia	HP:0003072
5979	RET	Sirenomelia	HP:0010497
5979	RET	Hemangioma	HP:0001028
5979	RET	Thyroid C cell hyperplasia	HP:0011781
5979	RET	Autosomal dominant inheritance	HP:0000006
5979	RET	Developmental cataract	HP:0000519
5979	RET	Abnormality of female internal genitalia	HP:0000008
5979	RET	Generalized hypotonia	HP:0001290
5979	RET	Headache	HP:0002315
5979	RET	Cranial nerve compression	HP:0001293
5979	RET	Aniridia	HP:0000526
5979	RET	Episodic abdominal pain	HP:0002574
5979	RET	Tracheoesophageal fistula	HP:0002575
5979	RET	Parathyroid hyperplasia	HP:0008208
5979	RET	Elevated urinary norepinephrine	HP:0003345
5979	RET	Abnormality of temperature regulation	HP:0004370
5979	RET	Hematuria	HP:0000790
5979	RET	Decreased fetal movement	HP:0001558
5979	RET	Polyhydramnios	HP:0001561
5979	RET	Oligohydramnios	HP:0001562
5979	RET	Fetal polyuria	HP:0001563
5979	RET	Recurrent paroxysmal headache	HP:0002331
5979	RET	Epicanthus	HP:0000286
5979	RET	Weight loss	HP:0001824
5979	RET	Paroxysmal vertigo	HP:0010532
5979	RET	Abnormality of the integument	HP:0001574
5979	RET	Central sleep apnea	HP:0010536
5979	RET	Pulmonary hypoplasia	HP:0002089
5979	RET	Abnormal autonomic nervous system physiology	HP:0012332
5979	RET	Episodic hyperhidrosis	HP:0001069
5979	RET	Increased circulating cortisol level	HP:0003118
5979	RET	Paraganglioma of head and neck	HP:0002864
5979	RET	Medullary thyroid carcinoma	HP:0002865
5979	RET	Flushing	HP:0031284
5979	RET	Hypertension	HP:0000822
5979	RET	Elevated urinary epinephrine	HP:0003639
5979	RET	Apnea	HP:0002104
5979	RET	Tremor	HP:0001337
5979	RET	Hypertelorism	HP:0000316
5979	RET	Proximal femoral epiphysiolysis	HP:0006461
5979	RET	Cerebral hemorrhage	HP:0001342
5979	RET	Thick eyebrow	HP:0000574
5979	RET	Vocal cord paralysis	HP:0001605
5979	RET	Breathing dysregulation	HP:0005957
5979	RET	Hypertensive retinopathy	HP:0001095
5979	RET	Hyperparathyroidism	HP:0000843
5979	RET	Intestinal polyposis	HP:0200008
5979	RET	Parathyroid adenoma	HP:0002897
5979	RET	Extraadrenal pheochromocytoma	HP:0006737
5979	RET	Dysphonia	HP:0001618
5979	RET	Scoliosis	HP:0002650
5979	RET	Abnormality of the cardiovascular system	HP:0001626
5979	RET	Fatigue	HP:0012378
5979	RET	Ganglioneuroblastoma	HP:0006747
5979	RET	Adrenal pheochromocytoma	HP:0006748
5979	RET	Proteinuria	HP:0000093
5979	RET	Intestinal obstruction	HP:0005214
5979	RET	Glomerulosclerosis	HP:0000096
5979	RET	Congestive heart failure	HP:0001635
5979	RET	Posteriorly rotated ears	HP:0000358
5979	RET	Neoplasm	HP:0002664
5979	RET	Renal agenesis	HP:0000104
5979	RET	Pheochromocytoma	HP:0002666
5979	RET	Nodular goiter	HP:0005994
5979	RET	Episodic hypertension	HP:0000875
5979	RET	Joint laxity	HP:0001388
5979	RET	Tachycardia	HP:0001649
5979	RET	Low-set ears	HP:0000369
5979	RET	Myopathy	HP:0003198
5979	RET	Renal artery stenosis	HP:0001920
5979	RET	Hypercapnia	HP:0012416
5979	RET	Hypoxemia	HP:0012418
5979	RET	Chest pain	HP:0100749
5979	RET	High, narrow palate	HP:0002705
5979	RET	Conductive hearing impairment	HP:0000405
5979	RET	Sensorineural hearing impairment	HP:0000407
5979	RET	Abnormality of the mouth	HP:0000153
5979	RET	Adducted thumb	HP:0001181
5979	RET	Nonketotic hypoglycemia	HP:0001958
5979	RET	Palpitations	HP:0001962
5979	RET	Cleft palate	HP:0000175
5979	RET	Thick lower lip vermilion	HP:0000179
5979	RET	Panic attack	HP:0025269
5979	RET	Pulsatile tinnitus	HP:0008629
5979	RET	Abnormality of the skin	HP:0000951
5979	RET	Sinus tachycardia	HP:0011703
5979	RET	Cafe-au-lait spot	HP:0000957
5979	RET	Ganglioneuroma	HP:0003005
5979	RET	Arachnoid hemangiomatosis	HP:0012222
5979	RET	Neoplasm of the thyroid gland	HP:0100031
5979	RET	Neuroblastoma	HP:0003006
5979	RET	Feeding difficulties	HP:0011968
5979	RET	Abnormal intestine morphology	HP:0002242
5979	RET	Central hypoventilation	HP:0007110
5979	RET	Sepsis	HP:0100806
5979	RET	Elevated calcitonin	HP:0003528
5979	RET	Depressed nasal ridge	HP:0000457
5979	RET	Elevated urinary vanillylmandelic acid	HP:0011978
5979	RET	Aganglionic megacolon	HP:0002251
5979	RET	Elevated urinary dopamine	HP:0011979
5979	RET	Colonic diverticula	HP:0002253
5979	RET	Hyperhidrosis	HP:0000975
5979	RET	Renal cell carcinoma	HP:0005584
5979	RET	Pallor	HP:0000980
5979	RET	Abnormality of cardiovascular system morphology	HP:0030680
5979	RET	High palate	HP:0000218
5979	RET	Diarrhea	HP:0002014
5979	RET	Pes cavus	HP:0001761
5979	RET	Intellectual disability	HP:0001249
5979	RET	Nausea and vomiting	HP:0002017
5979	RET	Nausea	HP:0002018
5979	RET	Short stature	HP:0004322
5979	RET	Seizures	HP:0001250
5979	RET	Constipation	HP:0002019
5979	RET	Muscular hypotonia	HP:0001252
5979	RET	Episodic paroxysmal anxiety	HP:0000740
5979	RET	Failure to thrive	HP:0001508
5979	RET	Gastroesophageal reflux	HP:0002020
5979	RET	Strabismus	HP:0000486
5979	RET	Hypoventilation	HP:0002791
5979	RET	Hyperlordosis	HP:0003307
5979	RET	Abdominal pain	HP:0002027
5979	RET	Urogenital fistula	HP:0100589
5979	RET	Non-midline cleft lip	HP:0100335
5979	RET	Downslanted palpebral fissures	HP:0000494
5979	RET	Small for gestational age	HP:0001518
5979	RET	Global developmental delay	HP:0001263
5979	RET	Disproportionate tall stature	HP:0001519
5979	RET	Retinal capillary hemangioma	HP:0009711
5979	RET	Death in infancy	HP:0001522
5979	RET	Abnormal sacrum morphology	HP:0005107
5979	RET	Positive regitine blocking test	HP:0003574
5979	RET	Kyphosis	HP:0002808
5979	RET	Failure to thrive in infancy	HP:0001531
5979	RET	Pectus excavatum	HP:0000767
55131	RBM28	Intellectual disability	HP:0001249
55131	RBM28	Skeletal muscle atrophy	HP:0003202
55131	RBM28	Gynecomastia	HP:0000771
55131	RBM28	Melanocytic nevus	HP:0000995
55131	RBM28	Autosomal recessive inheritance	HP:0000007
55131	RBM28	Hypogonadism	HP:0000135
55131	RBM28	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
55131	RBM28	Adrenal insufficiency	HP:0000846
55131	RBM28	Reduced subcutaneous adipose tissue	HP:0003758
55131	RBM28	Ulnar deviation of the hand	HP:0009487
55131	RBM28	Central adrenal insufficiency	HP:0011734
55131	RBM28	Delayed puberty	HP:0000823
55131	RBM28	Hyperpigmentation of the skin	HP:0000953
55131	RBM28	Flexion contracture	HP:0001371
55131	RBM28	Hypodontia	HP:0000668
55131	RBM28	Microcephaly	HP:0000252
55131	RBM28	Alopecia	HP:0001596
55131	RBM28	Upper motor neuron dysfunction	HP:0002493
55131	RBM28	Motor deterioration	HP:0002333
55131	RBM28	Carious teeth	HP:0000670
55131	RBM28	Kyphoscoliosis	HP:0002751
5980	REV3L	Aplasia/Hypoplasia of the thumb	HP:0009601
5980	REV3L	Skeletal muscle atrophy	HP:0003202
5980	REV3L	Open mouth	HP:0000194
5980	REV3L	Brachydactyly	HP:0001156
5980	REV3L	Facial palsy	HP:0010628
5980	REV3L	Abnormality of the voice	HP:0001608
5980	REV3L	Reduced number of teeth	HP:0009804
5980	REV3L	Multiple cafe-au-lait spots	HP:0007565
5980	REV3L	Autism	HP:0000717
5980	REV3L	Absent hand	HP:0004050
5980	REV3L	Finger syndactyly	HP:0006101
5980	REV3L	Corneal opacity	HP:0007957
5980	REV3L	Aplasia of the pectoralis major muscle	HP:0009751
5980	REV3L	Ophthalmoplegia	HP:0000602
5980	REV3L	Aplasia/Hypoplasia involving the metacarpal bones	HP:0005914
5980	REV3L	High palate	HP:0000218
5980	REV3L	Micrognathia	HP:0000347
5980	REV3L	Epicanthus	HP:0000286
5980	REV3L	Dysphagia	HP:0002015
5980	REV3L	Talipes equinovarus	HP:0001762
5980	REV3L	Muscular hypotonia	HP:0001252
5980	REV3L	Aplasia/Hypoplasia of the radius	HP:0006501
5980	REV3L	Strabismus	HP:0000486
5980	REV3L	Everted lower lip vermilion	HP:0000232
5980	REV3L	Feeding difficulties in infancy	HP:0008872
5980	REV3L	Mask-like facies	HP:0000298
5980	REV3L	Hypogonadotrophic hypogonadism	HP:0000044
5980	REV3L	Hearing impairment	HP:0000365
5980	REV3L	Breast aplasia	HP:0100783
5980	REV3L	Cleft palate	HP:0000175
5980	REV3L	Clinodactyly of the 5th finger	HP:0004209
5980	REV3L	Death in infancy	HP:0001522
5980	REV3L	Blepharitis	HP:0000498
5980	REV3L	Microdontia	HP:0000691
5980	REV3L	Arthrogryposis multiplex congenita	HP:0002804
5980	REV3L	Abnormality of the ulna	HP:0002997
5980	REV3L	Motor delay	HP:0001270
5980	REV3L	Aplasia/Hypoplasia of the tongue	HP:0010295
5980	REV3L	Abnormality of the sense of smell	HP:0004408
5980	REV3L	Visual impairment	HP:0000505
5980	REV3L	Ptosis	HP:0000508
112476	PRRT2	Athetosis	HP:0002305
112476	PRRT2	Autosomal dominant inheritance	HP:0000006
112476	PRRT2	Orofacial dyskinesia	HP:0002310
112476	PRRT2	Lower limb spasticity	HP:0002061
112476	PRRT2	Abnormality of the face	HP:0000271
112476	PRRT2	Rigidity	HP:0002063
112476	PRRT2	Hyperactive deep tendon reflexes	HP:0006801
112476	PRRT2	Reduced consciousness/confusion	HP:0004372
112476	PRRT2	Generalized-onset seizure	HP:0002197
112476	PRRT2	Focal sensory seizure	HP:0011157
112476	PRRT2	Hemiplegia/hemiparesis	HP:0004374
112476	PRRT2	Sensorineural hearing impairment	HP:0000407
112476	PRRT2	Torsion dystonia	HP:0001304
112476	PRRT2	Chorea	HP:0002072
112476	PRRT2	Migraine	HP:0002076
112476	PRRT2	Dyspnea	HP:0002094
112476	PRRT2	Specific learning disability	HP:0001328
112476	PRRT2	EEG abnormality	HP:0002353
112476	PRRT2	Memory impairment	HP:0002354
112476	PRRT2	Writer's cramp	HP:0002356
112476	PRRT2	Dysphasia	HP:0002357
112476	PRRT2	Dyskinesia	HP:0100660
112476	PRRT2	Abnormality of movement	HP:0100022
112476	PRRT2	Hyperkinesis	HP:0002487
112476	PRRT2	Myoclonus	HP:0001336
112476	PRRT2	Staring gaze	HP:0025401
112476	PRRT2	Paroxysmal choreoathetosis	HP:0007098
112476	PRRT2	Focal-onset seizure	HP:0007359
112476	PRRT2	Pigmentary retinopathy	HP:0000580
112476	PRRT2	Normal interictal EEG	HP:0002372
112476	PRRT2	Paresthesia	HP:0003401
112476	PRRT2	Absence seizure	HP:0002121
112476	PRRT2	Aggressive behavior	HP:0000718
112476	PRRT2	Trismus	HP:0000211
112476	PRRT2	Torticollis	HP:0000473
112476	PRRT2	Fatigue	HP:0012378
112476	PRRT2	Paroxysmal dystonia	HP:0002268
112476	PRRT2	Stereotypy	HP:0000733
112476	PRRT2	Irritability	HP:0000737
112476	PRRT2	Nausea and vomiting	HP:0002017
112476	PRRT2	Seizures	HP:0001250
112476	PRRT2	Hallucinations	HP:0000738
112476	PRRT2	Ataxia	HP:0001251
112476	PRRT2	Anxiety	HP:0000739
112476	PRRT2	Muscular hypotonia	HP:0001252
112476	PRRT2	Focal seizures, afebril	HP:0040168
112476	PRRT2	Intellectual disability, mild	HP:0001256
112476	PRRT2	Deeply set eye	HP:0000490
112476	PRRT2	Joint stiffness	HP:0001387
112476	PRRT2	Choreoathetosis	HP:0001266
112476	PRRT2	Incomplete penetrance	HP:0003829
112476	PRRT2	Dysesthesia	HP:0012534
112476	PRRT2	Neurological speech impairment	HP:0002167
112476	PRRT2	Abnormality of vision	HP:0000504
112476	PRRT2	Generalized muscle weakness	HP:0003324
112476	PRRT2	Hypertonia	HP:0001276
112476	PRRT2	Paroxysmal dyskinesia	HP:0007166
112476	PRRT2	Nystagmus	HP:0000639
5982	RFC2	Hypercalcemia	HP:0003072
5982	RFC2	Umbilical hernia	HP:0001537
5982	RFC2	Arnold-Chiari malformation	HP:0002308
5982	RFC2	Death in early adulthood	HP:0100613
5982	RFC2	Cataract	HP:0000518
5982	RFC2	Hypoplastic toenails	HP:0001800
5982	RFC2	Recurrent urinary tract infections	HP:0000010
5982	RFC2	Arthralgia	HP:0002829
5982	RFC2	Bladder diverticulum	HP:0000015
5982	RFC2	Tracheoesophageal fistula	HP:0002575
5982	RFC2	Stroke	HP:0001297
5982	RFC2	Nephrolithiasis	HP:0000787
5982	RFC2	Narrow face	HP:0000275
5982	RFC2	Corneal opacity	HP:0007957
5982	RFC2	Inguinal hernia	HP:0000023
5982	RFC2	Abnormality of extrapyramidal motor function	HP:0002071
5982	RFC2	Coarse facial features	HP:0000280
5982	RFC2	Functional abnormality of male internal genitalia	HP:0000025
5982	RFC2	Nevus flammeus	HP:0001052
5982	RFC2	Hyperacusis	HP:0010780
5982	RFC2	Cryptorchidism	HP:0000028
5982	RFC2	Supravalvular aortic stenosis	HP:0004381
5982	RFC2	Hallux valgus	HP:0001822
5982	RFC2	Dysgraphia	HP:0010526
5982	RFC2	Epicanthus	HP:0000286
5982	RFC2	Dysmetria	HP:0001310
5982	RFC2	Hypoplasia of penis	HP:0008736
5982	RFC2	Myopia	HP:0000545
5982	RFC2	Flat cornea	HP:0007720
5982	RFC2	Genu valgum	HP:0002857
5982	RFC2	Hypogonadotrophic hypogonadism	HP:0000044
5982	RFC2	Redundant skin	HP:0001582
5982	RFC2	Peptic ulcer	HP:0004398
5982	RFC2	Abnormal circulating lipid concentration	HP:0003119
5982	RFC2	High hypermetropia	HP:0008499
5982	RFC2	Pointed chin	HP:0000307
5982	RFC2	Abnormal dermatoglyphics	HP:0007477
5982	RFC2	Hypothyroidism	HP:0000821
5982	RFC2	Open bite	HP:0010807
5982	RFC2	Cholelithiasis	HP:0001081
5982	RFC2	Tremor	HP:0001337
5982	RFC2	Precocious puberty	HP:0000826
5982	RFC2	Joint hyperflexibility	HP:0005692
5982	RFC2	Overriding aorta	HP:0002623
5982	RFC2	Hyperreflexia	HP:0001347
5982	RFC2	Blepharophimosis	HP:0000581
5982	RFC2	Prematurely aged appearance	HP:0007495
5982	RFC2	Cerebral cortical atrophy	HP:0002120
5982	RFC2	Developmental regression	HP:0002376
5982	RFC2	Hoarse voice	HP:0001609
5982	RFC2	Renal duplication	HP:0000075
5982	RFC2	Vesicoureteral reflux	HP:0000076
5982	RFC2	Elfin facies	HP:0004428
5982	RFC2	Cerebral ischemia	HP:0002637
5982	RFC2	Broad forehead	HP:0000337
5982	RFC2	Nystagmus-induced head nodding	HP:0001361
5982	RFC2	Dysphonia	HP:0001618
5982	RFC2	Renal insufficiency	HP:0000083
5982	RFC2	Abnormality of pelvic girdle bone morphology	HP:0002644
5982	RFC2	Down-sloping shoulders	HP:0200021
5982	RFC2	Long philtrum	HP:0000343
5982	RFC2	Renal hypoplasia	HP:0000089
5982	RFC2	Scoliosis	HP:0002650
5982	RFC2	Type II diabetes mellitus	HP:0005978
5982	RFC2	Micrognathia	HP:0000347
5982	RFC2	High forehead	HP:0000348
5982	RFC2	Gait imbalance	HP:0002141
5982	RFC2	Ventricular septal defect	HP:0001629
5982	RFC2	Proteinuria	HP:0000093
5982	RFC2	Vertebral segmentation defect	HP:0003422
5982	RFC2	Atrial septal defect	HP:0001631
5982	RFC2	Mitral valve prolapse	HP:0001634
5982	RFC2	Congestive heart failure	HP:0001635
5982	RFC2	Tetralogy of Fallot	HP:0001636
5982	RFC2	Hypercalciuria	HP:0002150
5982	RFC2	Hypertrophic cardiomyopathy	HP:0001639
5982	RFC2	Cardiomegaly	HP:0001640
5982	RFC2	Peripheral pulmonary artery stenosis	HP:0004969
5982	RFC2	Attention deficit hyperactivity disorder	HP:0007018
5982	RFC2	Pulmonic stenosis	HP:0001642
5982	RFC2	Patent ductus arteriosus	HP:0001643
5982	RFC2	Joint stiffness	HP:0001387
5982	RFC2	Joint laxity	HP:0001388
5982	RFC2	Sudden cardiac death	HP:0001645
5982	RFC2	Bicuspid aortic valve	HP:0001647
5982	RFC2	Low-set, posteriorly rotated ears	HP:0000368
5982	RFC2	Retinal arteriolar tortuosity	HP:0001136
5982	RFC2	Clinodactyly of the 5th finger	HP:0004209
5982	RFC2	Posterior embryotoxon	HP:0000627
5982	RFC2	Mitral regurgitation	HP:0001653
5982	RFC2	Aplasia/Hypoplasia of the iris	HP:0008053
5982	RFC2	Lacrimation abnormality	HP:0000632
5982	RFC2	Nephrocalcinosis	HP:0000121
5982	RFC2	Myocardial infarction	HP:0001658
5982	RFC2	Blue irides	HP:0000635
5982	RFC2	Short nose	HP:0003196
5982	RFC2	Pelvic kidney	HP:0000125
5982	RFC2	Myopathy	HP:0003198
5982	RFC2	Increased nuchal translucency	HP:0010880
5982	RFC2	Chronic otitis media	HP:0000389
5982	RFC2	Phonophobia	HP:0002183
5982	RFC2	Macrotia	HP:0000400
5982	RFC2	Polycystic ovaries	HP:0000147
5982	RFC2	Sensorineural hearing impairment	HP:0000407
5982	RFC2	Wide mouth	HP:0000154
5982	RFC2	Protruding ear	HP:0000411
5982	RFC2	Hypodontia	HP:0000668
5982	RFC2	Adducted thumb	HP:0001181
5982	RFC2	Recurrent respiratory infections	HP:0002205
5982	RFC2	Macroglossia	HP:0000158
5982	RFC2	Carious teeth	HP:0000670
5982	RFC2	Radioulnar synostosis	HP:0002974
5982	RFC2	Elevated serum creatine kinase	HP:0003236
5982	RFC2	Abnormality of the diencephalon	HP:0010662
5982	RFC2	Abnormality of dental enamel	HP:0000682
5982	RFC2	Osteopenia	HP:0000938
5982	RFC2	Osteoporosis	HP:0000939
5982	RFC2	Hypoplasia of the zygomatic bone	HP:0010669
5982	RFC2	Wide nasal bridge	HP:0000431
5982	RFC2	Insomnia	HP:0100785
5982	RFC2	Tubulointerstitial abnormality	HP:0001969
5982	RFC2	Dental malocclusion	HP:0000689
5982	RFC2	Microdontia	HP:0000691
5982	RFC2	Thick lower lip vermilion	HP:0000179
5982	RFC2	Patellar dislocation	HP:0002999
5982	RFC2	Overfriendliness	HP:0100025
5982	RFC2	Periorbital edema	HP:0100539
5982	RFC2	Multiple renal cysts	HP:0005562
5982	RFC2	Delayed skeletal maturation	HP:0002750
5982	RFC2	Sacral dimple	HP:0000960
5982	RFC2	Abnormality of the gastric mucosa	HP:0004295
5982	RFC2	Atrophy/Degeneration involving the corticospinal tracts	HP:0007372
5982	RFC2	Depressivity	HP:0000716
5982	RFC2	Colonic diverticula	HP:0002253
5982	RFC2	Autism	HP:0000717
5982	RFC2	Abnormal fingernail morphology	HP:0001231
5982	RFC2	Abnormality of the neck	HP:0000464
5982	RFC2	Renovascular hypertension	HP:0100817
5982	RFC2	Abnormal endocardium morphology	HP:0004306
5982	RFC2	Obsessive-compulsive behavior	HP:0000722
5982	RFC2	Gingival overgrowth	HP:0000212
5982	RFC2	Abnormality of the ankles	HP:0003028
5982	RFC2	Urethral stenosis	HP:0008661
5982	RFC2	Abnormal carotid artery morphology	HP:0005344
5982	RFC2	Nausea and vomiting	HP:0002017
5982	RFC2	Intellectual disability	HP:0001249
5982	RFC2	Spina bifida occulta	HP:0003298
5982	RFC2	Short stature	HP:0004322
5982	RFC2	Constipation	HP:0002019
5982	RFC2	Anxiety	HP:0000739
5982	RFC2	Pes planus	HP:0001763
5982	RFC2	Gastroesophageal reflux	HP:0002020
5982	RFC2	Muscular hypotonia	HP:0001252
5982	RFC2	Megalocornea	HP:0000485
5982	RFC2	Strabismus	HP:0000486
5982	RFC2	Malabsorption	HP:0002024
5982	RFC2	Everted lower lip vermilion	HP:0000232
5982	RFC2	Obesity	HP:0001513
5982	RFC2	Spasticity	HP:0001257
5982	RFC2	Hyperlordosis	HP:0003307
5982	RFC2	Abdominal pain	HP:0002027
5982	RFC2	Dysarthria	HP:0001260
5982	RFC2	Abnormal form of the vertebral bodies	HP:0003312
5982	RFC2	Rectal prolapse	HP:0002035
5982	RFC2	Glaucoma	HP:0000501
5982	RFC2	Kyphosis	HP:0002808
5982	RFC2	Aortic arch aneurysm	HP:0005113
5982	RFC2	Visual impairment	HP:0000505
5982	RFC2	Increased bone mineral density	HP:0011001
5982	RFC2	Failure to thrive in infancy	HP:0001531
5982	RFC2	Microcephaly	HP:0000252
5982	RFC2	Pectus excavatum	HP:0000767
55135	WRAP53	Aplastic/hypoplastic toenail	HP:0010624
55135	WRAP53	Aplasia/Hypoplasia of the skin	HP:0008065
55135	WRAP53	Abnormal blistering of the skin	HP:0008066
55135	WRAP53	Avascular necrosis	HP:0010885
55135	WRAP53	Cataract	HP:0000518
55135	WRAP53	Sparse hair	HP:0008070
55135	WRAP53	Autosomal recessive inheritance	HP:0000007
55135	WRAP53	Abnormality of female internal genitalia	HP:0000008
55135	WRAP53	Abnormality of coagulation	HP:0001928
55135	WRAP53	Hypermelanotic macule	HP:0001034
55135	WRAP53	Tracheoesophageal fistula	HP:0002575
55135	WRAP53	Displacement of the urethral meatus	HP:0100627
55135	WRAP53	Abnormal eyebrow morphology	HP:0000534
55135	WRAP53	Bone marrow hypocellularity	HP:0005528
55135	WRAP53	Hypodontia	HP:0000668
55135	WRAP53	Recurrent respiratory infections	HP:0002205
55135	WRAP53	Hypopigmented skin patches	HP:0001053
55135	WRAP53	Carious teeth	HP:0000670
55135	WRAP53	Abnormal testis morphology	HP:0000035
55135	WRAP53	Taurodontia	HP:0000679
55135	WRAP53	Premature graying of hair	HP:0002216
55135	WRAP53	Osteoporosis	HP:0000939
55135	WRAP53	Squamous cell carcinoma	HP:0002860
55135	WRAP53	Diabetes mellitus	HP:0000819
55135	WRAP53	Oral leukoplakia	HP:0002745
55135	WRAP53	Anorectal anomaly	HP:0012732
55135	WRAP53	Alopecia	HP:0001596
55135	WRAP53	Rough bone trabeculation	HP:0100670
55135	WRAP53	Hepatomegaly	HP:0002240
55135	WRAP53	Periodontitis	HP:0000704
55135	WRAP53	Recurrent fractures	HP:0002757
55135	WRAP53	Hypoplasia of the maxilla	HP:0000327
55135	WRAP53	Neoplasm of the pancreas	HP:0002894
55135	WRAP53	Abnormal fingernail morphology	HP:0001231
55135	WRAP53	Hyperhidrosis	HP:0000975
55135	WRAP53	Splenomegaly	HP:0001744
55135	WRAP53	Thrombocytopenia	HP:0001873
55135	WRAP53	Cerebral calcification	HP:0002514
55135	WRAP53	Esophageal stenosis	HP:0010450
55135	WRAP53	Abnormality of neutrophils	HP:0001874
55135	WRAP53	Nail dystrophy	HP:0008404
55135	WRAP53	Pancytopenia	HP:0001876
55135	WRAP53	Urethral stenosis	HP:0008661
55135	WRAP53	Palmoplantar keratoderma	HP:0000982
55135	WRAP53	Abnormality of the pharynx	HP:0000600
55135	WRAP53	Scoliosis	HP:0002650
55135	WRAP53	Short stature	HP:0004322
55135	WRAP53	White hair	HP:0011364
55135	WRAP53	Skin vesicle	HP:0200037
55135	WRAP53	Intrauterine growth retardation	HP:0001511
55135	WRAP53	Abnormality of skin pigmentation	HP:0001000
55135	WRAP53	Malabsorption	HP:0002024
55135	WRAP53	Telangiectasia of the skin	HP:0100585
55135	WRAP53	Skin ulcer	HP:0200042
55135	WRAP53	Lymphoma	HP:0002665
55135	WRAP53	Hearing impairment	HP:0000365
55135	WRAP53	Anemia	HP:0001903
55135	WRAP53	Global developmental delay	HP:0001263
55135	WRAP53	Blepharitis	HP:0000498
55135	WRAP53	Cirrhosis	HP:0001394
55135	WRAP53	Abnormal eyelash morphology	HP:0000499
55135	WRAP53	Nail dysplasia	HP:0002164
55135	WRAP53	Hepatic failure	HP:0001399
55135	WRAP53	Cellular immunodeficiency	HP:0005374
128866	CHMP4B	Nuclear cataract	HP:0100018
128866	CHMP4B	Autosomal dominant inheritance	HP:0000006
128866	CHMP4B	Posterior subcapsular cataract	HP:0007787
128866	CHMP4B	Anterior subcapsular cataract	HP:0010923
79717	PPCS	EMG abnormality	HP:0003457
79717	PPCS	Abnormality of neutrophils	HP:0001874
79717	PPCS	Lipoatrophy	HP:0100578
79717	PPCS	Elevated serum creatine kinase	HP:0003236
79717	PPCS	Variable expressivity	HP:0003828
79717	PPCS	Palmoplantar keratoderma	HP:0000982
79717	PPCS	Sensorineural hearing impairment	HP:0000407
79717	PPCS	Reduced ejection fraction	HP:0012664
79717	PPCS	Dilated cardiomyopathy	HP:0001644
79717	PPCS	Myopathy	HP:0003198
79719	AAGAB	Orthokeratosis	HP:0040162
79719	AAGAB	Epidermal acanthosis	HP:0025092
79719	AAGAB	Autosomal dominant inheritance	HP:0000006
79719	AAGAB	Punctate palmoplantar hyperkeratosis	HP:0007530
79719	AAGAB	Neoplasm of the pancreas	HP:0002894
79719	AAGAB	Renal cell carcinoma	HP:0005584
79719	AAGAB	Transitional cell carcinoma of the bladder	HP:0006740
79719	AAGAB	Palmoplantar keratoderma	HP:0000982
79719	AAGAB	Breast carcinoma	HP:0003002
79719	AAGAB	Hypergranulosis	HP:0025114
79719	AAGAB	Colon cancer	HP:0003003
79719	AAGAB	Hodgkin lymphoma	HP:0012189
79719	AAGAB	Abnormality of the nail	HP:0001597
79718	TBL1XR1	Arnold-Chiari malformation	HP:0002308
79718	TBL1XR1	Autosomal dominant inheritance	HP:0000006
79718	TBL1XR1	Unilateral narrow palpebral fissure	HP:0007946
79718	TBL1XR1	Pendular nystagmus	HP:0012043
79718	TBL1XR1	Malar flattening	HP:0000272
79718	TBL1XR1	Broad palm	HP:0001169
79718	TBL1XR1	Prominent median palatal raphe	HP:0002708
79718	TBL1XR1	Prominent subcalcaneal fat pad	HP:0032276
79718	TBL1XR1	Midface retrusion	HP:0011800
79718	TBL1XR1	Broad face	HP:0000283
79718	TBL1XR1	Cryptorchidism	HP:0000028
79718	TBL1XR1	Broad philtrum	HP:0000289
79718	TBL1XR1	High anterior hairline	HP:0009890
79718	TBL1XR1	Short finger	HP:0009381
79718	TBL1XR1	Full cheeks	HP:0000293
79718	TBL1XR1	Short toe	HP:0001831
79718	TBL1XR1	Widely spaced teeth	HP:0000687
79718	TBL1XR1	Deep palmar crease	HP:0006191
79718	TBL1XR1	Micropenis	HP:0000054
79718	TBL1XR1	Short palm	HP:0004279
79718	TBL1XR1	Microphthalmia	HP:0000568
79718	TBL1XR1	Prominent fingertip pads	HP:0001212
79718	TBL1XR1	Hypertelorism	HP:0000316
79718	TBL1XR1	Wide nose	HP:0000445
79718	TBL1XR1	Smooth philtrum	HP:0000319
79718	TBL1XR1	Feeding difficulties	HP:0011968
79718	TBL1XR1	Broad nasal tip	HP:0000455
79718	TBL1XR1	Deep plantar creases	HP:0001869
79718	TBL1XR1	Long upper lip	HP:0011341
79718	TBL1XR1	Wide intermamillary distance	HP:0006610
79718	TBL1XR1	Short neck	HP:0000470
79718	TBL1XR1	Large fleshy ears	HP:0002265
79718	TBL1XR1	Scoliosis	HP:0002650
79718	TBL1XR1	High forehead	HP:0000348
79718	TBL1XR1	Intellectual disability	HP:0001249
79718	TBL1XR1	Narrow palpebral fissure	HP:0045025
79718	TBL1XR1	Seizures	HP:0001250
79718	TBL1XR1	Microcornea	HP:0000482
79718	TBL1XR1	Short stature	HP:0004322
79718	TBL1XR1	Failure to thrive	HP:0001508
79718	TBL1XR1	Muscular hypotonia	HP:0001252
79718	TBL1XR1	Decreased body weight	HP:0004325
79718	TBL1XR1	Posteriorly rotated ears	HP:0000358
79718	TBL1XR1	Strabismus	HP:0000486
79718	TBL1XR1	Everted lower lip vermilion	HP:0000232
79718	TBL1XR1	Broad foot	HP:0001769
79718	TBL1XR1	Thin vermilion border	HP:0000233
79718	TBL1XR1	Deeply set eye	HP:0000490
79718	TBL1XR1	Hearing impairment	HP:0000365
79718	TBL1XR1	Short foot	HP:0001773
79718	TBL1XR1	Delayed speech and language development	HP:0000750
79718	TBL1XR1	Global developmental delay	HP:0001263
79718	TBL1XR1	Hypoplastic areola	HP:0100853
79718	TBL1XR1	Abnormal peripheral nervous system morphology	HP:0000759
79718	TBL1XR1	Brachycephaly	HP:0000248
79718	TBL1XR1	Telecanthus	HP:0000506
79718	TBL1XR1	Hypertonia	HP:0001276
79718	TBL1XR1	Short nose	HP:0003196
79718	TBL1XR1	Microcephaly	HP:0000252
145258	GSC	Short humerus	HP:0005792
145258	GSC	Narrow mouth	HP:0000160
145258	GSC	Feeding difficulties	HP:0011968
145258	GSC	Short stature	HP:0004322
145258	GSC	Talipes equinovarus	HP:0001762
145258	GSC	Scapulohumeral synostosis	HP:0006595
145258	GSC	Autosomal recessive inheritance	HP:0000007
145258	GSC	Rhizomelia	HP:0008905
145258	GSC	Deeply set eye	HP:0000490
145258	GSC	Dislocated radial head	HP:0003083
145258	GSC	Hip dislocation	HP:0002827
145258	GSC	Downslanted palpebral fissures	HP:0000494
145258	GSC	Malar flattening	HP:0000272
145258	GSC	Delayed ossification of pubic rami	HP:0008785
145258	GSC	Hypoplastic scapulae	HP:0000882
145258	GSC	Preauricular pit	HP:0004467
145258	GSC	Conductive hearing impairment	HP:0000405
145258	GSC	Hypotelorism	HP:0000601
145258	GSC	Congenital onset	HP:0003577
145258	GSC	High palate	HP:0000218
145258	GSC	Micrognathia	HP:0000347
145258	GSC	Flexion contracture	HP:0001371
145258	GSC	Cryptorchidism	HP:0000028
145258	GSC	Atresia of the external auditory canal	HP:0000413
55145	THAP1	Lingual dystonia	HP:0031008
55145	THAP1	Blepharospasm	HP:0000643
55145	THAP1	Autosomal dominant inheritance	HP:0000006
55145	THAP1	Abnormality of the head	HP:0000234
55145	THAP1	Dysarthria	HP:0001260
55145	THAP1	Oromandibular dystonia	HP:0012048
55145	THAP1	Laryngeal dystonia	HP:0012049
55145	THAP1	Dysphonia	HP:0001618
55145	THAP1	Limb dystonia	HP:0002451
55145	THAP1	Writer's cramp	HP:0002356
55145	THAP1	Incomplete penetrance	HP:0003829
55145	THAP1	Torsion dystonia	HP:0001304
55145	THAP1	Myoclonus	HP:0001336
55145	THAP1	Torticollis	HP:0000473
55145	THAP1	Generalized dystonia	HP:0007325
5993	RFX5	Protracted diarrhea	HP:0004385
5993	RFX5	Chronic lymphocytic meningitis	HP:0007041
5993	RFX5	Viral hepatitis	HP:0006562
5993	RFX5	Panhypogammaglobulinemia	HP:0003139
5993	RFX5	Failure to thrive	HP:0001508
5993	RFX5	Recurrent upper respiratory tract infections	HP:0002788
5993	RFX5	Autosomal dominant inheritance	HP:0000006
5993	RFX5	Autosomal recessive inheritance	HP:0000007
5993	RFX5	Cholangitis	HP:0030151
5993	RFX5	Chronic mucocutaneous candidiasis	HP:0002728
5993	RFX5	Malabsorption	HP:0002024
5993	RFX5	Recurrent urinary tract infections	HP:0000010
5993	RFX5	Recurrent protozoan infections	HP:0005386
5993	RFX5	Recurrent viral infections	HP:0004429
5993	RFX5	Encephalitis	HP:0002383
5993	RFX5	Agammaglobulinemia	HP:0004432
5993	RFX5	Villous atrophy	HP:0011473
5993	RFX5	Neutropenia	HP:0001875
5993	RFX5	Cutaneous anergy	HP:0002965
5993	RFX5	Colitis	HP:0002583
5993	RFX5	Recurrent fungal infections	HP:0002841
5993	RFX5	Recurrent bacterial infections	HP:0002718
5993	RFX5	Recurrent lower respiratory tract infections	HP:0002783
5994	RFXAP	Protracted diarrhea	HP:0004385
5994	RFXAP	Chronic lymphocytic meningitis	HP:0007041
5994	RFXAP	Viral hepatitis	HP:0006562
5994	RFXAP	Panhypogammaglobulinemia	HP:0003139
5994	RFXAP	Failure to thrive	HP:0001508
5994	RFXAP	Recurrent upper respiratory tract infections	HP:0002788
5994	RFXAP	Autosomal dominant inheritance	HP:0000006
5994	RFXAP	Autosomal recessive inheritance	HP:0000007
5994	RFXAP	Cholangitis	HP:0030151
5994	RFXAP	Chronic mucocutaneous candidiasis	HP:0002728
5994	RFXAP	Malabsorption	HP:0002024
5994	RFXAP	Recurrent urinary tract infections	HP:0000010
5994	RFXAP	Recurrent protozoan infections	HP:0005386
5994	RFXAP	Recurrent viral infections	HP:0004429
5994	RFXAP	Encephalitis	HP:0002383
5994	RFXAP	Agammaglobulinemia	HP:0004432
5994	RFXAP	Villous atrophy	HP:0011473
5994	RFXAP	Neutropenia	HP:0001875
5994	RFXAP	Cutaneous anergy	HP:0002965
5994	RFXAP	Colitis	HP:0002583
5994	RFXAP	Recurrent fungal infections	HP:0002841
5994	RFXAP	Recurrent bacterial infections	HP:0002718
5994	RFXAP	Recurrent lower respiratory tract infections	HP:0002783
5995	RGR	Abnormal electroretinogram	HP:0000512
5995	RGR	Hyperreflexia	HP:0001347
5995	RGR	Autosomal dominant inheritance	HP:0000006
5995	RGR	Cataract	HP:0000518
5995	RGR	Hypogonadism	HP:0000135
5995	RGR	Optic atrophy	HP:0000648
5995	RGR	Hyperinsulinemia	HP:0000842
5995	RGR	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
5995	RGR	Anteverted nares	HP:0000463
5995	RGR	Conductive hearing impairment	HP:0000405
5995	RGR	Sensorineural hearing impairment	HP:0000407
5995	RGR	Abnormality of retinal pigmentation	HP:0007703
5995	RGR	Ophthalmoplegia	HP:0000602
5995	RGR	Type II diabetes mellitus	HP:0005978
5995	RGR	Atypical scarring of skin	HP:0000987
5995	RGR	Hypoplasia of penis	HP:0008736
5995	RGR	Intellectual disability	HP:0001249
5995	RGR	Attenuation of retinal blood vessels	HP:0007843
5995	RGR	Abnormal testis morphology	HP:0000035
5995	RGR	Photophobia	HP:0000613
5995	RGR	Obesity	HP:0001513
5995	RGR	Retinal pigment epithelial atrophy	HP:0007722
5995	RGR	Blindness	HP:0000618
5995	RGR	Constriction of peripheral visual field	HP:0001133
5995	RGR	Abnormal retinal vascular morphology	HP:0008046
5995	RGR	Wide nasal bridge	HP:0000431
5995	RGR	Keratoconus	HP:0000563
5995	RGR	Glaucoma	HP:0000501
5995	RGR	Progressive night blindness	HP:0007675
5995	RGR	Rod-cone dystrophy	HP:0000510
5995	RGR	Nystagmus	HP:0000639
79722	ANKRD55	Limitation of joint mobility	HP:0001376
79722	ANKRD55	Juvenile rheumatoid arthritis	HP:0005681
79722	ANKRD55	Dental malocclusion	HP:0000689
79722	ANKRD55	Polyarticular arthritis	HP:0005764
79722	ANKRD55	Antinuclear antibody positivity	HP:0003493
79722	ANKRD55	Iridocyclitis	HP:0001094
79722	ANKRD55	Apraxia	HP:0002186
79722	ANKRD55	Joint swelling	HP:0001386
79722	ANKRD55	Elevated C-reactive protein level	HP:0011227
79722	ANKRD55	Arthralgia	HP:0002829
79722	ANKRD55	Elevated erythrocyte sedimentation rate	HP:0003565
79722	ANKRD55	Joint dislocation	HP:0001373
55149	MTPAP	Delayed ability to walk	HP:0031936
55149	MTPAP	Spastic ataxia	HP:0002497
55149	MTPAP	Hyperreflexia	HP:0001347
55149	MTPAP	Autosomal recessive inheritance	HP:0000007
55149	MTPAP	Emotional lability	HP:0000712
55149	MTPAP	Optic atrophy	HP:0000648
55149	MTPAP	Progressive gait ataxia	HP:0007240
55149	MTPAP	Spastic paraparesis	HP:0002313
55149	MTPAP	Dysarthria	HP:0001260
55149	MTPAP	Delayed speech and language development	HP:0000750
55149	MTPAP	Lower limb hypertonia	HP:0006895
55149	MTPAP	Hyporeflexia	HP:0001265
55149	MTPAP	Upper limb hypertonia	HP:0200049
55149	MTPAP	Motor delay	HP:0001270
55149	MTPAP	Movement abnormality of the tongue	HP:0000182
55149	MTPAP	Frequent falls	HP:0002359
55149	MTPAP	Myoclonus	HP:0001336
55149	MTPAP	Progressive cerebellar ataxia	HP:0002073
55149	MTPAP	Slow progression	HP:0003677
55149	MTPAP	Babinski sign	HP:0003487
55149	MTPAP	Nystagmus	HP:0000639
55151	TMEM38B	Recurrent fractures	HP:0002757
55151	TMEM38B	Autosomal recessive inheritance	HP:0000007
55151	TMEM38B	Osteopenia	HP:0000938
79728	PALB2	Umbilical hernia	HP:0001537
79728	PALB2	Duodenal stenosis	HP:0100867
79728	PALB2	Ovarian neoplasm	HP:0100615
79728	PALB2	Cataract	HP:0000518
79728	PALB2	Autosomal recessive inheritance	HP:0000007
79728	PALB2	Abnormality of femur morphology	HP:0002823
79728	PALB2	Proptosis	HP:0000520
79728	PALB2	Decreased fertility in males	HP:0012041
79728	PALB2	Recurrent urinary tract infections	HP:0000010
79728	PALB2	Hip dislocation	HP:0002827
79728	PALB2	Dolichocephaly	HP:0000268
79728	PALB2	Tracheoesophageal fistula	HP:0002575
79728	PALB2	Abnormality of the fallopian tube	HP:0011027
79728	PALB2	Oligohydramnios	HP:0001562
79728	PALB2	Azoospermia	HP:0000027
79728	PALB2	Cryptorchidism	HP:0000028
79728	PALB2	Hypopigmented skin patches	HP:0001053
79728	PALB2	Epicanthus	HP:0000286
79728	PALB2	Weight loss	HP:0001824
79728	PALB2	Intestinal pseudo-obstruction	HP:0004389
79728	PALB2	Poor appetite	HP:0004396
79728	PALB2	Melanoma	HP:0002861
79728	PALB2	Bicornuate uterus	HP:0000813
79728	PALB2	Extrahepatic cholestasis	HP:0012334
79728	PALB2	Myelodysplasia	HP:0002863
79728	PALB2	Hypospadias	HP:0000047
79728	PALB2	Short thumb	HP:0009778
79728	PALB2	Diabetes mellitus	HP:0000819
79728	PALB2	Aplasia/Hypoplasia of the uvula	HP:0010293
79728	PALB2	Microphthalmia	HP:0000568
79728	PALB2	Hypertelorism	HP:0000316
79728	PALB2	Hyperreflexia	HP:0001347
79728	PALB2	Facial asymmetry	HP:0000324
79728	PALB2	Medulloblastoma	HP:0002885
79728	PALB2	Pancreatic adenocarcinoma	HP:0006725
79728	PALB2	Upslanted palpebral fissure	HP:0000582
79728	PALB2	Ventriculomegaly	HP:0002119
79728	PALB2	Hydroureter	HP:0000072
79728	PALB2	Neoplasm of the pancreas	HP:0002894
79728	PALB2	Neoplasm of the liver	HP:0002896
79728	PALB2	Thrombocytopenia	HP:0001873
79728	PALB2	Renal insufficiency	HP:0000083
79728	PALB2	Sloping forehead	HP:0000340
79728	PALB2	Back pain	HP:0003418
79728	PALB2	Scoliosis	HP:0002650
79728	PALB2	Leukopenia	HP:0001882
79728	PALB2	Micrognathia	HP:0000347
79728	PALB2	Prostate cancer	HP:0012125
79728	PALB2	Ventricular septal defect	HP:0001629
79728	PALB2	Elevated hepatic transaminase	HP:0002910
79728	PALB2	Atrial septal defect	HP:0001631
79728	PALB2	Abnormality of the hypothalamus-pituitary axis	HP:0000864
79728	PALB2	Tetralogy of Fallot	HP:0001636
79728	PALB2	Aplasia/Hypoplasia of the radius	HP:0006501
79728	PALB2	Hypertrophic cardiomyopathy	HP:0001639
79728	PALB2	Nephroblastoma	HP:0002667
79728	PALB2	Patent ductus arteriosus	HP:0001643
79728	PALB2	Hearing impairment	HP:0000365
79728	PALB2	Abnormal aortic valve morphology	HP:0001646
79728	PALB2	Spina bifida	HP:0002414
79728	PALB2	Abnormality of the liver	HP:0001392
79728	PALB2	Clinodactyly of the 5th finger	HP:0004209
79728	PALB2	Aplasia/Hypoplasia of the iris	HP:0008053
79728	PALB2	Aplasia/Hypoplasia of fingers	HP:0006265
79728	PALB2	Aplastic anemia	HP:0001915
79728	PALB2	External ear malformation	HP:0008572
79728	PALB2	Nystagmus	HP:0000639
79728	PALB2	Functional intestinal obstruction	HP:0005249
79728	PALB2	Hypogonadism	HP:0000135
79728	PALB2	Multiple cafe-au-lait spots	HP:0007565
79728	PALB2	Abnormal aortic morphology	HP:0001679
79728	PALB2	Chronic fatigue	HP:0012432
79728	PALB2	Pyridoxine-responsive sideroblastic anemia	HP:0005522
79728	PALB2	Abnormality of chromosome stability	HP:0003220
79728	PALB2	Chromosomal breakage induced by crosslinking agents	HP:0003221
79728	PALB2	Hepatosplenomegaly	HP:0001433
79728	PALB2	Clubbing of toes	HP:0100760
79728	PALB2	Lymphadenopathy	HP:0002716
79728	PALB2	Cranial nerve paralysis	HP:0006824
79728	PALB2	Cleft palate	HP:0000175
79728	PALB2	Triphalangeal thumb	HP:0001199
79728	PALB2	Jaundice	HP:0000952
79728	PALB2	Breast carcinoma	HP:0003002
79728	PALB2	Colon cancer	HP:0003003
79728	PALB2	Arteriovenous malformation	HP:0100026
79728	PALB2	Cafe-au-lait spot	HP:0000957
79728	PALB2	Neuroblastoma	HP:0003006
79728	PALB2	Abnormal localization of kidney	HP:0100542
79728	PALB2	Postnatal growth retardation	HP:0008897
79728	PALB2	Almond-shaped palpebral fissure	HP:0007874
79728	PALB2	Meckel diverticulum	HP:0002245
79728	PALB2	Choanal atresia	HP:0000453
79728	PALB2	Primary peritoneal carcinoma	HP:0030406
79728	PALB2	Short palpebral fissure	HP:0012745
79728	PALB2	Exocrine pancreatic insufficiency	HP:0001738
79728	PALB2	Aganglionic megacolon	HP:0002251
79728	PALB2	Intermittent diarrhea	HP:0002254
79728	PALB2	Hypoplasia of the ulna	HP:0003022
79728	PALB2	Finger syndactyly	HP:0006101
79728	PALB2	Short neck	HP:0000470
79728	PALB2	Frontal bossing	HP:0002007
79728	PALB2	High palate	HP:0000218
79728	PALB2	Abnormal carotid artery morphology	HP:0005344
79728	PALB2	Nausea and vomiting	HP:0002017
79728	PALB2	Intellectual disability	HP:0001249
79728	PALB2	Short stature	HP:0004322
79728	PALB2	Pes planus	HP:0001763
79728	PALB2	Astigmatism	HP:0000483
79728	PALB2	Absent testis	HP:0010469
79728	PALB2	Ovarian carcinoma	HP:0025318
79728	PALB2	Renal hypoplasia/aplasia	HP:0008678
79728	PALB2	Strabismus	HP:0000486
79728	PALB2	Anal atresia	HP:0002023
79728	PALB2	Intrauterine growth retardation	HP:0001511
79728	PALB2	Irregular hyperpigmentation	HP:0007400
79728	PALB2	Toe syndactyly	HP:0001770
79728	PALB2	Abnormality of the preputium	HP:0100587
79728	PALB2	Abdominal pain	HP:0002027
79728	PALB2	Hydrocephalus	HP:0000238
79728	PALB2	Global developmental delay	HP:0001263
79728	PALB2	Peritoneal abscess	HP:0100592
79728	PALB2	Anorexia	HP:0002039
79728	PALB2	Visual impairment	HP:0000505
79728	PALB2	Microcephaly	HP:0000252
79728	PALB2	Ptosis	HP:0000508
79728	PALB2	Reduced bone mineral density	HP:0004349
79731	NARS2	Feeding difficulties	HP:0011968
79731	NARS2	Skeletal muscle atrophy	HP:0003202
79731	NARS2	Facial palsy	HP:0010628
79731	NARS2	Neurodegeneration	HP:0002180
79731	NARS2	Autosomal recessive inheritance	HP:0000007
79731	NARS2	Optic atrophy	HP:0000648
79731	NARS2	Generalized hypotonia	HP:0001290
79731	NARS2	Cerebral visual impairment	HP:0100704
79731	NARS2	Neuronal loss in central nervous system	HP:0002529
79731	NARS2	Focal segmental glomerulosclerosis	HP:0000097
79731	NARS2	Seizures	HP:0001250
79731	NARS2	Elevated serum creatine kinase	HP:0003236
79731	NARS2	Increased serum lactate	HP:0002151
79731	NARS2	Intellectual disability, mild	HP:0001256
79731	NARS2	Spasticity	HP:0001257
79731	NARS2	Dysarthria	HP:0001260
79731	NARS2	Metabolic alkalosis	HP:0200114
79731	NARS2	Proximal muscle weakness	HP:0003701
79731	NARS2	Cerebellar atrophy	HP:0001272
79731	NARS2	Agenesis of corpus callosum	HP:0001274
79731	NARS2	Gliosis	HP:0002171
79731	NARS2	Microcephaly	HP:0000252
79731	NARS2	Ptosis	HP:0000508
79731	NARS2	Myopathy	HP:0003198
79731	NARS2	Nystagmus	HP:0000639
55154	MSTO1	Lipoma	HP:0012032
55154	MSTO1	EMG: myopathic abnormalities	HP:0003458
55154	MSTO1	Autosomal dominant inheritance	HP:0000006
55154	MSTO1	Autosomal recessive inheritance	HP:0000007
55154	MSTO1	Myopathic facies	HP:0002058
55154	MSTO1	Generalized hypotonia	HP:0001290
55154	MSTO1	Thick hair	HP:0100874
55154	MSTO1	Schizophrenia	HP:0100753
55154	MSTO1	Primary amenorrhea	HP:0000786
55154	MSTO1	Sensory impairment	HP:0003474
55154	MSTO1	Long face	HP:0000276
55154	MSTO1	Limb ataxia	HP:0002070
55154	MSTO1	Abnormality of globe size	HP:0100887
55154	MSTO1	Mitochondrial myopathy	HP:0003737
55154	MSTO1	Progressive cerebellar ataxia	HP:0002073
55154	MSTO1	Dysdiadochokinesis	HP:0002075
55154	MSTO1	Truncal ataxia	HP:0002078
55154	MSTO1	Dysmetria	HP:0001310
55154	MSTO1	Optic disc pallor	HP:0000543
55154	MSTO1	Elevated serum creatine kinase	HP:0003236
55154	MSTO1	Cerebellar hypoplasia	HP:0001321
55154	MSTO1	Hyperintensity of cerebral white matter on MRI	HP:0030890
55154	MSTO1	Muscle weakness	HP:0001324
55154	MSTO1	Mandibular prognathia	HP:0000303
55154	MSTO1	Difficulty walking	HP:0002355
55154	MSTO1	Tremor	HP:0001337
55154	MSTO1	Delayed skeletal maturation	HP:0002750
55154	MSTO1	Gowers sign	HP:0003391
55154	MSTO1	Hyperthyroidism	HP:0000836
55154	MSTO1	Pigmentary retinopathy	HP:0000580
55154	MSTO1	Generalized joint laxity	HP:0002761
55154	MSTO1	Depressivity	HP:0000716
55154	MSTO1	Increased intramyocellular lipid droplets	HP:0012240
55154	MSTO1	Pallor	HP:0000980
55154	MSTO1	Hypotelorism	HP:0000601
55154	MSTO1	Autistic behavior	HP:0000729
55154	MSTO1	Scoliosis	HP:0002650
55154	MSTO1	High palate	HP:0000218
55154	MSTO1	Micrognathia	HP:0000347
55154	MSTO1	Increased muscle glycogen content	HP:0009051
55154	MSTO1	Pes cavus	HP:0001761
55154	MSTO1	Short stature	HP:0004322
55154	MSTO1	Anxiety	HP:0000739
55154	MSTO1	Increased variability in muscle fiber diameter	HP:0003557
55154	MSTO1	Prolactin excess	HP:0000870
55154	MSTO1	Intellectual disability, mild	HP:0001256
55154	MSTO1	Inability to walk	HP:0002540
55154	MSTO1	Distal amyotrophy	HP:0003693
55154	MSTO1	Hearing impairment	HP:0000365
55154	MSTO1	Delayed speech and language development	HP:0000750
55154	MSTO1	Weakness of facial musculature	HP:0030319
55154	MSTO1	Hyporeflexia	HP:0001265
55154	MSTO1	Multiple lipomas	HP:0001012
55154	MSTO1	Mildly elevated creatine kinase	HP:0008180
55154	MSTO1	Motor delay	HP:0001270
55154	MSTO1	Distal sensory impairment	HP:0002936
55154	MSTO1	Myalgia	HP:0003326
55154	MSTO1	Pectus excavatum	HP:0000767
6005	RHAG	Hepatomegaly	HP:0002240
6005	RHAG	Splenomegaly	HP:0001744
6005	RHAG	Reticulocytosis	HP:0001923
6005	RHAG	Hemolytic anemia	HP:0001878
6005	RHAG	Autosomal dominant inheritance	HP:0000006
6005	RHAG	Increased intracellular sodium	HP:0003575
6005	RHAG	Autosomal recessive inheritance	HP:0000007
6005	RHAG	Hyperbilirubinemia	HP:0002904
6005	RHAG	Jaundice	HP:0000952
6005	RHAG	Unconjugated hyperbilirubinemia	HP:0008282
6005	RHAG	Stomatocytosis	HP:0004446
6005	RHAG	Increased red cell osmotic fragility	HP:0005502
55157	DARS2	Skeletal muscle atrophy	HP:0003202
55157	DARS2	Hyperreflexia	HP:0001347
55157	DARS2	Ataxia	HP:0001251
55157	DARS2	Autosomal recessive inheritance	HP:0000007
55157	DARS2	Spasticity	HP:0001257
55157	DARS2	Dysarthria	HP:0001260
55157	DARS2	Muscle weakness	HP:0001324
55157	DARS2	Leukoencephalopathy	HP:0002352
55157	DARS2	Hyporeflexia	HP:0001265
55157	DARS2	Variable expressivity	HP:0003828
55157	DARS2	Peripheral axonal neuropathy	HP:0003477
55157	DARS2	Motor delay	HP:0001270
55157	DARS2	Tremor	HP:0001337
55157	DARS2	Flexion contracture	HP:0001371
55157	DARS2	Slow progression	HP:0003677
55157	DARS2	Cognitive impairment	HP:0100543
55157	DARS2	Nystagmus	HP:0000639
55157	DARS2	Babinski sign	HP:0003487
55159	RFWD3	Umbilical hernia	HP:0001537
55159	RFWD3	Duodenal stenosis	HP:0100867
55159	RFWD3	Arnold-Chiari malformation	HP:0002308
55159	RFWD3	Cataract	HP:0000518
55159	RFWD3	Autosomal recessive inheritance	HP:0000007
55159	RFWD3	Abnormality of femur morphology	HP:0002823
55159	RFWD3	Proptosis	HP:0000520
55159	RFWD3	Decreased fertility in males	HP:0012041
55159	RFWD3	Recurrent urinary tract infections	HP:0000010
55159	RFWD3	Hip dislocation	HP:0002827
55159	RFWD3	Dolichocephaly	HP:0000268
55159	RFWD3	Tracheoesophageal fistula	HP:0002575
55159	RFWD3	Oligohydramnios	HP:0001562
55159	RFWD3	Azoospermia	HP:0000027
55159	RFWD3	Cryptorchidism	HP:0000028
55159	RFWD3	Hypopigmented skin patches	HP:0001053
55159	RFWD3	Epicanthus	HP:0000286
55159	RFWD3	Weight loss	HP:0001824
55159	RFWD3	Bicornuate uterus	HP:0000813
55159	RFWD3	Myelodysplasia	HP:0002863
55159	RFWD3	Hypospadias	HP:0000047
55159	RFWD3	Absent thumb	HP:0009777
55159	RFWD3	Aplasia/Hypoplasia of the uvula	HP:0010293
55159	RFWD3	Growth hormone deficiency	HP:0000824
55159	RFWD3	Microphthalmia	HP:0000568
55159	RFWD3	Hypertelorism	HP:0000316
55159	RFWD3	Hyperreflexia	HP:0001347
55159	RFWD3	Facial asymmetry	HP:0000324
55159	RFWD3	Upslanted palpebral fissure	HP:0000582
55159	RFWD3	Ventriculomegaly	HP:0002119
55159	RFWD3	Hydroureter	HP:0000072
55159	RFWD3	Thrombocytopenia	HP:0001873
55159	RFWD3	Renal insufficiency	HP:0000083
55159	RFWD3	Sloping forehead	HP:0000340
55159	RFWD3	Scoliosis	HP:0002650
55159	RFWD3	Leukopenia	HP:0001882
55159	RFWD3	Micrognathia	HP:0000347
55159	RFWD3	Atrial septal defect	HP:0001631
55159	RFWD3	Abnormality of the hypothalamus-pituitary axis	HP:0000864
55159	RFWD3	Tetralogy of Fallot	HP:0001636
55159	RFWD3	Aplasia/Hypoplasia of the radius	HP:0006501
55159	RFWD3	Hypertrophic cardiomyopathy	HP:0001639
55159	RFWD3	Patent ductus arteriosus	HP:0001643
55159	RFWD3	Hearing impairment	HP:0000365
55159	RFWD3	Abnormal aortic valve morphology	HP:0001646
55159	RFWD3	Spina bifida	HP:0002414
55159	RFWD3	Abnormality of the liver	HP:0001392
55159	RFWD3	Clinodactyly of the 5th finger	HP:0004209
55159	RFWD3	Aplasia/Hypoplasia of the iris	HP:0008053
55159	RFWD3	Aplasia/Hypoplasia of fingers	HP:0006265
55159	RFWD3	External ear malformation	HP:0008572
55159	RFWD3	Nystagmus	HP:0000639
55159	RFWD3	Hypogonadism	HP:0000135
55159	RFWD3	Multiple cafe-au-lait spots	HP:0007565
55159	RFWD3	Abnormal aortic morphology	HP:0001679
55159	RFWD3	Pyridoxine-responsive sideroblastic anemia	HP:0005522
55159	RFWD3	Abnormality of chromosome stability	HP:0003220
55159	RFWD3	Clubbing of toes	HP:0100760
55159	RFWD3	Hypoplasia of the radius	HP:0002984
55159	RFWD3	Cranial nerve paralysis	HP:0006824
55159	RFWD3	Cleft palate	HP:0000175
55159	RFWD3	Triphalangeal thumb	HP:0001199
55159	RFWD3	Arteriovenous malformation	HP:0100026
55159	RFWD3	Abnormal localization of kidney	HP:0100542
55159	RFWD3	Almond-shaped palpebral fissure	HP:0007874
55159	RFWD3	Meckel diverticulum	HP:0002245
55159	RFWD3	Choanal atresia	HP:0000453
55159	RFWD3	Duodenal atresia	HP:0002247
55159	RFWD3	Abnormality of radial ray	HP:0410049
55159	RFWD3	Megakaryocyte dysplasia	HP:0031689
55159	RFWD3	Short palpebral fissure	HP:0012745
55159	RFWD3	Aganglionic megacolon	HP:0002251
55159	RFWD3	Hypoplasia of the ulna	HP:0003022
55159	RFWD3	Polysplenia	HP:0001748
55159	RFWD3	Finger syndactyly	HP:0006101
55159	RFWD3	Abnormality of the periventricular white matter	HP:0002518
55159	RFWD3	Frontal bossing	HP:0002007
55159	RFWD3	High palate	HP:0000218
55159	RFWD3	Abnormal carotid artery morphology	HP:0005344
55159	RFWD3	Intellectual disability	HP:0001249
55159	RFWD3	Short stature	HP:0004322
55159	RFWD3	Pes planus	HP:0001763
55159	RFWD3	Astigmatism	HP:0000483
55159	RFWD3	Absent testis	HP:0010469
55159	RFWD3	Growth delay	HP:0001510
55159	RFWD3	Renal hypoplasia/aplasia	HP:0008678
55159	RFWD3	Strabismus	HP:0000486
55159	RFWD3	Intrauterine growth retardation	HP:0001511
55159	RFWD3	Anal atresia	HP:0002023
55159	RFWD3	Irregular hyperpigmentation	HP:0007400
55159	RFWD3	Toe syndactyly	HP:0001770
55159	RFWD3	Abnormality of the preputium	HP:0100587
55159	RFWD3	Hydrocephalus	HP:0000238
55159	RFWD3	Global developmental delay	HP:0001263
55159	RFWD3	Congenital onset	HP:0003577
55159	RFWD3	Visual impairment	HP:0000505
55159	RFWD3	Microcephaly	HP:0000252
55159	RFWD3	Ptosis	HP:0000508
55159	RFWD3	Reduced bone mineral density	HP:0004349
79734	KCTD17	Blepharospasm	HP:0000643
79734	KCTD17	Anxiety	HP:0000739
79734	KCTD17	Spinal myoclonus	HP:0010531
79734	KCTD17	Autosomal dominant inheritance	HP:0000006
79734	KCTD17	Personality disorder	HP:0012075
79734	KCTD17	Depressivity	HP:0000716
79734	KCTD17	Dysarthria	HP:0001260
79734	KCTD17	Laryngeal dystonia	HP:0012049
79734	KCTD17	Obsessive-compulsive behavior	HP:0000722
79734	KCTD17	Writer's cramp	HP:0002356
79734	KCTD17	Panic attack	HP:0025269
79734	KCTD17	Myoclonus	HP:0001336
79734	KCTD17	Torticollis	HP:0000473
79734	KCTD17	Progressive	HP:0003676
79734	KCTD17	Limb myoclonus	HP:0045084
6010	RHO	Abnormal electroretinogram	HP:0000512
6010	RHO	Abnormality of macular pigmentation	HP:0008002
6010	RHO	Hyperreflexia	HP:0001347
6010	RHO	Pigmentary retinopathy	HP:0000580
6010	RHO	Autosomal dominant inheritance	HP:0000006
6010	RHO	Cataract	HP:0000518
6010	RHO	Autosomal recessive inheritance	HP:0000007
6010	RHO	Hypogonadism	HP:0000135
6010	RHO	Optic atrophy	HP:0000648
6010	RHO	Hyperinsulinemia	HP:0000842
6010	RHO	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
6010	RHO	Anteverted nares	HP:0000463
6010	RHO	Conductive hearing impairment	HP:0000405
6010	RHO	Nyctalopia	HP:0000662
6010	RHO	Optic disc hypoplasia	HP:0007766
6010	RHO	Sensorineural hearing impairment	HP:0000407
6010	RHO	Abnormality of retinal pigmentation	HP:0007703
6010	RHO	Ophthalmoplegia	HP:0000602
6010	RHO	Type II diabetes mellitus	HP:0005978
6010	RHO	Congenital stationary night blindness	HP:0007642
6010	RHO	Atypical scarring of skin	HP:0000987
6010	RHO	Hypoplasia of penis	HP:0008736
6010	RHO	Intellectual disability	HP:0001249
6010	RHO	Visual field defect	HP:0001123
6010	RHO	Abnormal testis morphology	HP:0000035
6010	RHO	Photophobia	HP:0000613
6010	RHO	Strabismus	HP:0000486
6010	RHO	Obesity	HP:0001513
6010	RHO	Blindness	HP:0000618
6010	RHO	Abnormal retinal vascular morphology	HP:0008046
6010	RHO	Wide nasal bridge	HP:0000431
6010	RHO	Reduced visual acuity	HP:0007663
6010	RHO	Fundus albipunctatus	HP:0030642
6010	RHO	Keratoconus	HP:0000563
6010	RHO	Glaucoma	HP:0000501
6010	RHO	Bone spicule pigmentation of the retina	HP:0007737
6010	RHO	Progressive night blindness	HP:0007675
6010	RHO	High myopia	HP:0011003
6010	RHO	Rod-cone dystrophy	HP:0000510
6010	RHO	Nystagmus	HP:0000639
374654	KIF7	Macrocephaly	HP:0000256
374654	KIF7	Pectus carinatum	HP:0000768
374654	KIF7	Umbilical hernia	HP:0001537
374654	KIF7	Central Y-shaped metacarpal	HP:0006145
374654	KIF7	Wide anterior fontanel	HP:0000260
374654	KIF7	Autosomal dominant inheritance	HP:0000006
374654	KIF7	Autosomal recessive inheritance	HP:0000007
374654	KIF7	Congenital diaphragmatic hernia	HP:0000776
374654	KIF7	Gait disturbance	HP:0001288
374654	KIF7	Generalized hypotonia	HP:0001290
374654	KIF7	Prominent occiput	HP:0000269
374654	KIF7	Malar flattening	HP:0000272
374654	KIF7	Anophthalmia	HP:0000528
374654	KIF7	Anencephaly	HP:0002323
374654	KIF7	Abnormality of the fallopian tube	HP:0011027
374654	KIF7	Long face	HP:0000276
374654	KIF7	Retrognathia	HP:0000278
374654	KIF7	Inguinal hernia	HP:0000023
374654	KIF7	Polyhydramnios	HP:0001561
374654	KIF7	Dandy-Walker malformation	HP:0001305
374654	KIF7	Hamartoma of tongue	HP:0011802
374654	KIF7	Cryptorchidism	HP:0000028
374654	KIF7	Pulmonary valve defects	HP:0005148
374654	KIF7	Epicanthus	HP:0000286
374654	KIF7	Foot polydactyly	HP:0001829
374654	KIF7	Postaxial foot polydactyly	HP:0001830
374654	KIF7	Cerebellar vermis hypoplasia	HP:0001320
374654	KIF7	Genu valgum	HP:0002857
374654	KIF7	Abnormality of epiphysis morphology	HP:0005930
374654	KIF7	Hypospadias	HP:0000047
374654	KIF7	Preaxial foot polydactyly	HP:0001841
374654	KIF7	Absent septum pellucidum	HP:0001331
374654	KIF7	Microretrognathia	HP:0000308
374654	KIF7	Esotropia	HP:0000565
374654	KIF7	Micropenis	HP:0000054
374654	KIF7	Microphthalmia	HP:0000568
374654	KIF7	Abnormality of the sense of smell	HP:0004408
374654	KIF7	Apnea	HP:0002104
374654	KIF7	Tremor	HP:0001337
374654	KIF7	Hypertelorism	HP:0000316
374654	KIF7	Episodic tachypnea	HP:0002876
374654	KIF7	Smooth philtrum	HP:0000319
374654	KIF7	Laryngomalacia	HP:0001601
374654	KIF7	Short philtrum	HP:0000322
374654	KIF7	Biparietal narrowing	HP:0004422
374654	KIF7	Ventriculomegaly	HP:0002119
374654	KIF7	Tracheal atresia	HP:0100682
374654	KIF7	Coloboma	HP:0000589
374654	KIF7	Intracranial cystic lesion	HP:0010576
374654	KIF7	Broad forehead	HP:0000337
374654	KIF7	Duplication of phalanx of hallux	HP:0010066
374654	KIF7	Finger clinodactyly	HP:0040019
374654	KIF7	Sloping forehead	HP:0000340
374654	KIF7	Premature birth	HP:0001622
374654	KIF7	Long philtrum	HP:0000343
374654	KIF7	Micrognathia	HP:0000347
374654	KIF7	Arrhinencephaly	HP:0002139
374654	KIF7	Abnormal heart morphology	HP:0001627
374654	KIF7	Joint dislocation	HP:0001373
374654	KIF7	Multiple epiphyseal dysplasia	HP:0002654
374654	KIF7	Tall stature	HP:0000098
374654	KIF7	Posteriorly rotated ears	HP:0000358
374654	KIF7	Renal agenesis	HP:0000104
374654	KIF7	Abnormal pulmonary valve morphology	HP:0001641
374654	KIF7	Hearing impairment	HP:0000365
374654	KIF7	Intellectual disability, severe	HP:0010864
374654	KIF7	Low-set, posteriorly rotated ears	HP:0000368
374654	KIF7	Clinodactyly of the 5th finger	HP:0004209
374654	KIF7	Low-set ears	HP:0000369
374654	KIF7	Molar tooth sign on MRI	HP:0002419
374654	KIF7	Abnormality of the pinna	HP:0000377
374654	KIF7	Abnormality of the clavicle	HP:0000889
374654	KIF7	Short nose	HP:0003196
374654	KIF7	Midline notch of upper alveolar ridge	HP:0009084
374654	KIF7	Hypoplasia of olfactory tract	HP:0007036
374654	KIF7	Nystagmus	HP:0000639
374654	KIF7	Preauricular skin tag	HP:0000384
374654	KIF7	Brachydactyly	HP:0001156
374654	KIF7	Clinodactyly	HP:0030084
374654	KIF7	Abnormal cardiac septum morphology	HP:0001671
374654	KIF7	Syndactyly	HP:0001159
374654	KIF7	Optic atrophy	HP:0000648
374654	KIF7	Hand polydactyly	HP:0001161
374654	KIF7	Postaxial hand polydactyly	HP:0001162
374654	KIF7	Bifid distal phalanx of the thumb	HP:0009611
374654	KIF7	Hypothalamic hamartoma	HP:0002444
374654	KIF7	Rectovaginal fistula	HP:0000143
374654	KIF7	Heterogeneous	HP:0001425
374654	KIF7	Conductive hearing impairment	HP:0000405
374654	KIF7	Sensorineural hearing impairment	HP:0000407
374654	KIF7	Preaxial hand polydactyly	HP:0001177
374654	KIF7	Brain atrophy	HP:0012444
374654	KIF7	Tapered finger	HP:0001182
374654	KIF7	Postaxial polydactyly	HP:0100259
374654	KIF7	Preaxial polydactyly	HP:0100258
374654	KIF7	Mesoaxial polydactyly	HP:0100260
374654	KIF7	Micromelia	HP:0002983
374654	KIF7	Feeding difficulties in infancy	HP:0008872
374654	KIF7	Prominent nasal bridge	HP:0000426
374654	KIF7	Hypoplasia of teeth	HP:0000685
374654	KIF7	Cleft palate	HP:0000175
374654	KIF7	Wide nasal bridge	HP:0000431
374654	KIF7	Triphalangeal thumb	HP:0001199
374654	KIF7	Submucous cleft hard palate	HP:0000176
374654	KIF7	Lobulated tongue	HP:0000180
374654	KIF7	Abnormal oral frenulum morphology	HP:0000190
374654	KIF7	Aplasia/Hypoplasia of the cerebellum	HP:0007360
374654	KIF7	Postnatal growth retardation	HP:0008897
374654	KIF7	Bifid uvula	HP:0000193
374654	KIF7	Open mouth	HP:0000194
374654	KIF7	Osteoarthritis	HP:0002758
374654	KIF7	Tongue nodules	HP:0000199
374654	KIF7	Broad nasal tip	HP:0000455
374654	KIF7	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
374654	KIF7	Cleft upper lip	HP:0000204
374654	KIF7	Triangular mouth	HP:0000207
374654	KIF7	Abnormal facial shape	HP:0001999
374654	KIF7	Prominent forehead	HP:0011220
374654	KIF7	Finger syndactyly	HP:0006101
374654	KIF7	Duplication of thumb phalanx	HP:0009942
374654	KIF7	Hypopigmentation of the fundus	HP:0007894
374654	KIF7	Short neck	HP:0000470
374654	KIF7	Frontal bossing	HP:0002007
374654	KIF7	Abnormality of cardiovascular system morphology	HP:0030680
374654	KIF7	High palate	HP:0000218
374654	KIF7	Abnormality of neuronal migration	HP:0002269
374654	KIF7	Intellectual disability	HP:0001249
374654	KIF7	Seizures	HP:0001250
374654	KIF7	Gingival cleft	HP:0030690
374654	KIF7	Short stature	HP:0004322
374654	KIF7	Ataxia	HP:0001251
374654	KIF7	Failure to thrive	HP:0001508
374654	KIF7	Strabismus	HP:0000486
374654	KIF7	Growth delay	HP:0001510
374654	KIF7	Anal atresia	HP:0002023
374654	KIF7	Thin vermilion border	HP:0000233
374654	KIF7	Obesity	HP:0001513
374654	KIF7	Toe syndactyly	HP:0001770
374654	KIF7	Deeply set eye	HP:0000490
374654	KIF7	Lymphedema	HP:0001004
374654	KIF7	Unilateral cleft lip	HP:0100333
374654	KIF7	Hydrocephalus	HP:0000238
374654	KIF7	Downslanted palpebral fissures	HP:0000494
374654	KIF7	Global developmental delay	HP:0001263
374654	KIF7	Bilateral cryptorchidism	HP:0008689
374654	KIF7	Motor delay	HP:0001270
374654	KIF7	Highly arched eyebrow	HP:0002553
374654	KIF7	Agenesis of corpus callosum	HP:0001274
374654	KIF7	Pectus excavatum	HP:0000767
55163	PNPO	Feeding difficulties	HP:0011968
55163	PNPO	Epileptic encephalopathy	HP:0200134
55163	PNPO	Low APGAR score	HP:0030917
55163	PNPO	Autosomal recessive inheritance	HP:0000007
55163	PNPO	Decreased CSF homovanillic acid	HP:0003785
55163	PNPO	Hypoargininemia	HP:0005961
55163	PNPO	Unsteady gait	HP:0002317
55163	PNPO	Abnormal circulating glycine concentration	HP:0010895
55163	PNPO	Encephalopathy	HP:0001298
55163	PNPO	Pyridoxine-responsive sideroblastic anemia	HP:0005522
55163	PNPO	Abnormal circulating threonine concentration	HP:0010900
55163	PNPO	Status epilepticus	HP:0002133
55163	PNPO	Metabolic acidosis	HP:0001942
55163	PNPO	Premature birth	HP:0001622
55163	PNPO	High-pitched cry	HP:0025430
55163	PNPO	Hypoglycemia	HP:0001943
55163	PNPO	Abnormality of the amniotic fluid	HP:0001560
55163	PNPO	Abnormal circulating histidine concentration	HP:0010904
55163	PNPO	Seizures	HP:0001250
55163	PNPO	EEG with burst suppression	HP:0010851
55163	PNPO	Failure to thrive	HP:0001508
55163	PNPO	Abnormal circulating tyrosine concentration	HP:0010917
55163	PNPO	Increased serum lactate	HP:0002151
55163	PNPO	Muscular hypotonia of the trunk	HP:0008936
55163	PNPO	Feeding difficulties in infancy	HP:0008872
55163	PNPO	Global brain atrophy	HP:0002283
55163	PNPO	Rotary nystagmus	HP:0001583
55163	PNPO	Global developmental delay	HP:0001263
55163	PNPO	Anemia	HP:0001903
55163	PNPO	Abnormality of eye movement	HP:0000496
55163	PNPO	Myoclonus	HP:0001336
55163	PNPO	Hypertonia	HP:0001276
55163	PNPO	Microcephaly	HP:0000252
55163	PNPO	Progressive microcephaly	HP:0000253
6011	GRK1	Abnormality of macular pigmentation	HP:0008002
6011	GRK1	Optic disc hypoplasia	HP:0007766
6011	GRK1	Nyctalopia	HP:0000662
6011	GRK1	Strabismus	HP:0000486
6011	GRK1	Autosomal recessive inheritance	HP:0000007
6011	GRK1	Congenital stationary night blindness	HP:0007642
6011	GRK1	High myopia	HP:0011003
6011	GRK1	Nystagmus	HP:0000639
6011	GRK1	Reduced visual acuity	HP:0007663
79738	BBS10	Abnormal electroretinogram	HP:0000512
79738	BBS10	Skeletal muscle atrophy	HP:0003202
79738	BBS10	Multicystic kidney dysplasia	HP:0000003
79738	BBS10	Pigmentary retinopathy	HP:0000580
79738	BBS10	Hypogonadism	HP:0000135
79738	BBS10	Autosomal recessive inheritance	HP:0000007
79738	BBS10	Polydactyly	HP:0010442
79738	BBS10	Postaxial hand polydactyly	HP:0001162
79738	BBS10	Renal insufficiency	HP:0000083
79738	BBS10	Hypoplasia of the ovary	HP:0008724
79738	BBS10	Finger syndactyly	HP:0006101
79738	BBS10	Short neck	HP:0000470
79738	BBS10	Cryptorchidism	HP:0000028
79738	BBS10	Hypoplasia of penis	HP:0008736
79738	BBS10	Intellectual disability	HP:0001249
79738	BBS10	Short stature	HP:0004322
79738	BBS10	Nephrotic syndrome	HP:0000100
79738	BBS10	Obesity	HP:0001513
79738	BBS10	Prominent nasal bridge	HP:0000426
79738	BBS10	Renal cyst	HP:0000107
79738	BBS10	Hearing impairment	HP:0000365
79738	BBS10	Downslanted palpebral fissures	HP:0000494
79738	BBS10	Low-set, posteriorly rotated ears	HP:0000368
79738	BBS10	Hepatic fibrosis	HP:0001395
79738	BBS10	Hypertension	HP:0000822
79738	BBS10	Generalized hirsutism	HP:0002230
79738	BBS10	Neurological speech impairment	HP:0002167
79738	BBS10	Medial flaring of the eyebrow	HP:0010747
79738	BBS10	Rod-cone dystrophy	HP:0000510
79738	BBS10	Cognitive impairment	HP:0100543
79738	BBS10	Nystagmus	HP:0000639
55165	CEP55	Multicystic kidney dysplasia	HP:0000003
55165	CEP55	Cataract	HP:0000518
55165	CEP55	Sclerocornea	HP:0000647
55165	CEP55	Autosomal recessive inheritance	HP:0000007
55165	CEP55	Optic atrophy	HP:0000648
55165	CEP55	Postaxial hand polydactyly	HP:0001162
55165	CEP55	Anophthalmia	HP:0000528
55165	CEP55	Anencephaly	HP:0002323
55165	CEP55	Abnormal chorioretinal morphology	HP:0000532
55165	CEP55	Hydranencephaly	HP:0002324
55165	CEP55	Dandy-Walker malformation	HP:0001305
55165	CEP55	Preaxial hand polydactyly	HP:0001177
55165	CEP55	Oligohydramnios	HP:0001562
55165	CEP55	Cryptorchidism	HP:0000028
55165	CEP55	Situs inversus totalis	HP:0001696
55165	CEP55	Narrow nasal ridge	HP:0000418
55165	CEP55	Encephalocele	HP:0002084
55165	CEP55	Male pseudohermaphroditism	HP:0000037
55165	CEP55	Full cheeks	HP:0000293
55165	CEP55	Postaxial foot polydactyly	HP:0001830
55165	CEP55	Cerebellar hypoplasia	HP:0001321
55165	CEP55	Cleft palate	HP:0000175
55165	CEP55	Cystic liver disease	HP:0006706
55165	CEP55	Congenital hepatic fibrosis	HP:0002612
55165	CEP55	Microretrognathia	HP:0000308
55165	CEP55	Aplasia/Hypoplasia of the tongue	HP:0010295
55165	CEP55	Microphthalmia	HP:0000568
55165	CEP55	Single transverse palmar crease	HP:0000954
55165	CEP55	Hypertelorism	HP:0000316
55165	CEP55	Hypoplasia of the brainstem	HP:0002365
55165	CEP55	Urethral atresia	HP:0000068
55165	CEP55	Ureteral duplication	HP:0000073
55165	CEP55	Pancreatic cysts	HP:0001737
55165	CEP55	Depressed nasal ridge	HP:0000457
55165	CEP55	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
55165	CEP55	Asplenia	HP:0001746
55165	CEP55	Accessory spleen	HP:0001747
55165	CEP55	2-3 toe syndactyly	HP:0004691
55165	CEP55	Sloping forehead	HP:0000340
55165	CEP55	Lobar holoprosencephaly	HP:0006870
55165	CEP55	Bowing of the long bones	HP:0006487
55165	CEP55	Renal hypoplasia	HP:0000089
55165	CEP55	Potter facies	HP:0002009
55165	CEP55	Micrognathia	HP:0000347
55165	CEP55	Talipes	HP:0001883
55165	CEP55	True hermaphroditism	HP:0010459
55165	CEP55	Cystic hygroma	HP:0000476
55165	CEP55	Furrowed tongue	HP:0000221
55165	CEP55	Microcornea	HP:0000482
55165	CEP55	Talipes equinovarus	HP:0001762
55165	CEP55	Redundant neck skin	HP:0005989
55165	CEP55	Renal agenesis	HP:0000104
55165	CEP55	Renal cyst	HP:0000107
55165	CEP55	Hydrocephalus	HP:0000238
55165	CEP55	Renal dysplasia	HP:0000110
55165	CEP55	Low-set, posteriorly rotated ears	HP:0000368
55165	CEP55	Clinodactyly of the 5th finger	HP:0004209
55165	CEP55	Aplasia/Hypoplasia of the iris	HP:0008053
55165	CEP55	Microcephaly	HP:0000252
55165	CEP55	Pancreatic fibrosis	HP:0100732
6016	RIT1	Pectus carinatum	HP:0000768
6016	RIT1	Relative macrocephaly	HP:0004482
6016	RIT1	Brachydactyly	HP:0001156
6016	RIT1	Autosomal dominant inheritance	HP:0000006
6016	RIT1	Thickened helices	HP:0000391
6016	RIT1	Proptosis	HP:0000520
6016	RIT1	Abnormality of coagulation	HP:0001928
6016	RIT1	Enlarged thorax	HP:0100625
6016	RIT1	Sensorineural hearing impairment	HP:0000407
6016	RIT1	Midface retrusion	HP:0011800
6016	RIT1	Polyhydramnios	HP:0001561
6016	RIT1	Pleural effusion	HP:0002202
6016	RIT1	Arrhythmia	HP:0011675
6016	RIT1	Cryptorchidism	HP:0000028
6016	RIT1	Radioulnar synostosis	HP:0002974
6016	RIT1	Epicanthus	HP:0000286
6016	RIT1	Coarse hair	HP:0002208
6016	RIT1	Curly hair	HP:0002212
6016	RIT1	Feeding difficulties in infancy	HP:0008872
6016	RIT1	Hypogonadotrophic hypogonadism	HP:0000044
6016	RIT1	Muscle weakness	HP:0001324
6016	RIT1	Left ventricular hypertrophy	HP:0001712
6016	RIT1	Thick lower lip vermilion	HP:0000179
6016	RIT1	Abnormal dermatoglyphics	HP:0007477
6016	RIT1	Hyperpigmentation of the skin	HP:0000953
6016	RIT1	Hypertelorism	HP:0000316
6016	RIT1	Joint hyperflexibility	HP:0005692
6016	RIT1	Delayed skeletal maturation	HP:0002750
6016	RIT1	Pulmonary artery stenosis	HP:0004415
6016	RIT1	Hepatomegaly	HP:0002240
6016	RIT1	Hyperkeratosis	HP:0000962
6016	RIT1	Triangular face	HP:0000325
6016	RIT1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
6016	RIT1	Hyperextensible skin	HP:0000974
6016	RIT1	Abnormality of the spleen	HP:0001743
6016	RIT1	Webbed neck	HP:0000465
6016	RIT1	Wide intermamillary distance	HP:0006610
6016	RIT1	Short neck	HP:0000470
6016	RIT1	Scoliosis	HP:0002650
6016	RIT1	Thickened nuchal skin fold	HP:0000474
6016	RIT1	High palate	HP:0000218
6016	RIT1	Micrognathia	HP:0000347
6016	RIT1	Cystic hygroma	HP:0000476
6016	RIT1	High forehead	HP:0000348
6016	RIT1	Abnormal platelet function	HP:0011869
6016	RIT1	Palmoplantar cutis laxa	HP:0007517
6016	RIT1	Ventricular septal defect	HP:0001629
6016	RIT1	Atrial septal defect	HP:0001631
6016	RIT1	Intellectual disability	HP:0001249
6016	RIT1	Short stature	HP:0004322
6016	RIT1	Abnormal hair quantity	HP:0011362
6016	RIT1	Melanocytic nevus	HP:0000995
6016	RIT1	Abnormal bleeding	HP:0001892
6016	RIT1	Muscular hypotonia	HP:0001252
6016	RIT1	Failure to thrive	HP:0001508
6016	RIT1	Strabismus	HP:0000486
6016	RIT1	Hypertrophic cardiomyopathy	HP:0001639
6016	RIT1	Abnormal pulmonary valve morphology	HP:0001641
6016	RIT1	Pulmonic stenosis	HP:0001642
6016	RIT1	Patent ductus arteriosus	HP:0001643
6016	RIT1	Dysarthria	HP:0001260
6016	RIT1	Lymphedema	HP:0001004
6016	RIT1	Downslanted palpebral fissures	HP:0000494
6016	RIT1	Low-set, posteriorly rotated ears	HP:0000368
6016	RIT1	Clinodactyly of the 5th finger	HP:0004209
6016	RIT1	Low-set ears	HP:0000369
6016	RIT1	Low posterior hairline	HP:0002162
6016	RIT1	Aplasia of the semicircular canal	HP:0011381
6016	RIT1	Ptosis	HP:0000508
6016	RIT1	Abnormality of the sternum	HP:0000766
6016	RIT1	Pectus excavatum	HP:0000767
6016	RIT1	Nystagmus	HP:0000639
6017	RLBP1	Abnormal electroretinogram	HP:0000512
6017	RLBP1	Hyperreflexia	HP:0001347
6017	RLBP1	Autosomal dominant inheritance	HP:0000006
6017	RLBP1	Cataract	HP:0000518
6017	RLBP1	Autosomal recessive inheritance	HP:0000007
6017	RLBP1	Hypogonadism	HP:0000135
6017	RLBP1	Optic atrophy	HP:0000648
6017	RLBP1	Hyperinsulinemia	HP:0000842
6017	RLBP1	Anteverted nares	HP:0000463
6017	RLBP1	Conductive hearing impairment	HP:0000405
6017	RLBP1	Nyctalopia	HP:0000662
6017	RLBP1	Sensorineural hearing impairment	HP:0000407
6017	RLBP1	Abnormality of retinal pigmentation	HP:0007703
6017	RLBP1	Ophthalmoplegia	HP:0000602
6017	RLBP1	Type II diabetes mellitus	HP:0005978
6017	RLBP1	Atypical scarring of skin	HP:0000987
6017	RLBP1	Hypoplasia of penis	HP:0008736
6017	RLBP1	Macular degeneration	HP:0000608
6017	RLBP1	Intellectual disability	HP:0001249
6017	RLBP1	Abnormal testis morphology	HP:0000035
6017	RLBP1	Photophobia	HP:0000613
6017	RLBP1	Color vision defect	HP:0000551
6017	RLBP1	Obesity	HP:0001513
6017	RLBP1	Blindness	HP:0000618
6017	RLBP1	Retinal dystrophy	HP:0000556
6017	RLBP1	Abnormal retinal vascular morphology	HP:0008046
6017	RLBP1	Wide nasal bridge	HP:0000431
6017	RLBP1	Fundus albipunctatus	HP:0030642
6017	RLBP1	Keratoconus	HP:0000563
6017	RLBP1	Glaucoma	HP:0000501
6017	RLBP1	Progressive night blindness	HP:0007675
6017	RLBP1	Scotoma	HP:0000575
6017	RLBP1	Nystagmus	HP:0000639
55172	DNAAF2	Situs inversus totalis	HP:0001696
55172	DNAAF2	Abnormal respiratory motile cilium morphology	HP:0005938
55172	DNAAF2	Recurrent sinusitis	HP:0011108
55172	DNAAF2	Chronic sinusitis	HP:0011109
55172	DNAAF2	Chronic otitis media	HP:0000389
55172	DNAAF2	Autosomal recessive inheritance	HP:0000007
55172	DNAAF2	Ciliary dyskinesia	HP:0012265
55172	DNAAF2	Recurrent respiratory infections	HP:0002205
79751	SLC25A22	Delayed myelination	HP:0012448
79751	SLC25A22	Eyelid myoclonias	HP:0011168
79751	SLC25A22	Hyperreflexia	HP:0001347
79751	SLC25A22	Muscular hypotonia	HP:0001252
79751	SLC25A22	Epileptic encephalopathy	HP:0200134
79751	SLC25A22	Lethargy	HP:0001254
79751	SLC25A22	Neonatal hypotonia	HP:0001319
79751	SLC25A22	Autosomal recessive inheritance	HP:0000007
79751	SLC25A22	Spasticity	HP:0001257
79751	SLC25A22	Abnormality of visual evoked potentials	HP:0000649
79751	SLC25A22	Death in childhood	HP:0003819
79751	SLC25A22	Cerebral atrophy	HP:0002059
79751	SLC25A22	Generalized myoclonic seizures	HP:0002123
79751	SLC25A22	Global developmental delay	HP:0001263
79751	SLC25A22	Poor suck	HP:0002033
79751	SLC25A22	Infantile spasms	HP:0012469
79751	SLC25A22	Myoclonus	HP:0001336
79751	SLC25A22	Hypsarrhythmia	HP:0002521
79751	SLC25A22	Progressive microcephaly	HP:0000253
79751	SLC25A22	Recurrent respiratory infections	HP:0002205
79751	SLC25A22	Dysphagia	HP:0002015
79751	SLC25A22	Focal tonic seizures	HP:0011167
6023	RMRP	Pectus carinatum	HP:0000768
6023	RMRP	Narrow vertebral interpedicular distance	HP:0008450
6023	RMRP	Narrow chest	HP:0000774
6023	RMRP	Autosomal recessive inheritance	HP:0000007
6023	RMRP	Biconvex vertebral bodies	HP:0004625
6023	RMRP	Impaired lymphocyte transformation with phytohemagglutinin	HP:0003347
6023	RMRP	Sparse and thin eyebrow	HP:0000535
6023	RMRP	Abnormality of retinal pigmentation	HP:0007703
6023	RMRP	Epicanthus	HP:0000286
6023	RMRP	Myopia	HP:0000545
6023	RMRP	Reduced tendon reflexes	HP:0001315
6023	RMRP	Cervical cord compression	HP:0002341
6023	RMRP	Short toe	HP:0001831
6023	RMRP	Thyroiditis	HP:0100646
6023	RMRP	Sparse facial hair	HP:0007464
6023	RMRP	Abnormality of epiphysis morphology	HP:0005930
6023	RMRP	Pneumonia	HP:0002090
6023	RMRP	Respiratory insufficiency	HP:0002093
6023	RMRP	Thickened skin	HP:0001072
6023	RMRP	EEG abnormality	HP:0002353
6023	RMRP	High hypermetropia	HP:0008499
6023	RMRP	Hypothyroidism	HP:0000821
6023	RMRP	Abnormal hair morphology	HP:0001595
6023	RMRP	Joint hyperflexibility	HP:0005692
6023	RMRP	Hypertelorism	HP:0000316
6023	RMRP	Alopecia	HP:0001596
6023	RMRP	Spinal dysraphism	HP:0010301
6023	RMRP	Short metacarpal	HP:0010049
6023	RMRP	Short thorax	HP:0010306
6023	RMRP	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
6023	RMRP	Severe combined immunodeficiency	HP:0004430
6023	RMRP	Blue sclerae	HP:0000592
6023	RMRP	Neutropenia	HP:0001875
6023	RMRP	Abnormality of pelvic girdle bone morphology	HP:0002644
6023	RMRP	Hypocalcemia	HP:0002901
6023	RMRP	Eosinophilia	HP:0001880
6023	RMRP	Small epiphyses	HP:0010585
6023	RMRP	Scoliosis	HP:0002650
6023	RMRP	Lymphopenia	HP:0001888
6023	RMRP	Limited elbow extension	HP:0001377
6023	RMRP	Nephrotic syndrome	HP:0000100
6023	RMRP	Cardiomyopathy	HP:0001638
6023	RMRP	Joint hypermobility	HP:0001382
6023	RMRP	Abnormal distal phalanx morphology of finger	HP:0009832
6023	RMRP	Lymphoma	HP:0002665
6023	RMRP	Joint laxity	HP:0001388
6023	RMRP	Anemia	HP:0001903
6023	RMRP	Absent pubertal growth spurt	HP:0031087
6023	RMRP	Low-set, posteriorly rotated ears	HP:0000368
6023	RMRP	Small hand	HP:0200055
6023	RMRP	Large face	HP:0100729
6023	RMRP	Aplasia/Hypoplasia affecting the eye	HP:0008056
6023	RMRP	J-shaped sella turcica	HP:0002680
6023	RMRP	Lumbar hyperlordosis	HP:0002938
6023	RMRP	Desquamation of skin soon after birth	HP:0007549
6023	RMRP	Brachydactyly	HP:0001156
6023	RMRP	Neoplasm of the skin	HP:0008069
6023	RMRP	Sparse hair	HP:0008070
6023	RMRP	Abnormal cardiac septum morphology	HP:0001671
6023	RMRP	Metaphyseal cupping of metacarpals	HP:0006028
6023	RMRP	Sparse eyelashes	HP:0000653
6023	RMRP	Macrotia	HP:0000400
6023	RMRP	Autoimmunity	HP:0002960
6023	RMRP	Abnormality of chromosome stability	HP:0003220
6023	RMRP	Fever	HP:0001945
6023	RMRP	Genu varum	HP:0002970
6023	RMRP	Diaphyseal thickening	HP:0005019
6023	RMRP	Abnormality of the immune system	HP:0002715
6023	RMRP	Hypodontia	HP:0000668
6023	RMRP	Lymphadenopathy	HP:0002716
6023	RMRP	Abnormality of the vertebral column	HP:0000925
6023	RMRP	Platyspondyly	HP:0000926
6023	RMRP	Metaphyseal dysplasia	HP:0100255
6023	RMRP	Depressed nasal bridge	HP:0005280
6023	RMRP	Femoral bowing	HP:0002980
6023	RMRP	Short finger	HP:0009381
6023	RMRP	Fine hair	HP:0002213
6023	RMRP	Tibial bowing	HP:0002982
6023	RMRP	Micromelia	HP:0002983
6023	RMRP	Abnormal palate morphology	HP:0000174
6023	RMRP	Wide nasal bridge	HP:0000431
6023	RMRP	Abnormality of the metaphysis	HP:0000944
6023	RMRP	Heart block	HP:0012722
6023	RMRP	Hypoplastic ilia	HP:0000946
6023	RMRP	Macrocytic anemia	HP:0001972
6023	RMRP	Severe short stature	HP:0003510
6023	RMRP	Short palm	HP:0004279
6023	RMRP	Convex nasal ridge	HP:0000444
6023	RMRP	Flaring of lower rib cage	HP:0006589
6023	RMRP	Delayed skeletal maturation	HP:0002750
6023	RMRP	Cognitive impairment	HP:0100543
6023	RMRP	Dry skin	HP:0000958
6023	RMRP	Hepatomegaly	HP:0002240
6023	RMRP	Sacral dimple	HP:0000960
6023	RMRP	Delayed ossification of carpal bones	HP:0001216
6023	RMRP	Abnormality of the pancreas	HP:0001732
6023	RMRP	Flared metaphysis	HP:0003015
6023	RMRP	Sepsis	HP:0100806
6023	RMRP	Abnormality of the hip bone	HP:0003272
6023	RMRP	Metaphyseal widening	HP:0003016
6023	RMRP	Rhizomelia	HP:0008905
6023	RMRP	Depressed nasal ridge	HP:0000457
6023	RMRP	Edema	HP:0000969
6023	RMRP	Congenital hypoplastic anemia	HP:0004810
6023	RMRP	Aganglionic megacolon	HP:0002251
6023	RMRP	Metaphyseal cupping	HP:0003021
6023	RMRP	Anteverted nares	HP:0000463
6023	RMRP	Splenomegaly	HP:0001744
6023	RMRP	Metaphyseal irregularity	HP:0003025
6023	RMRP	Short long bone	HP:0003026
6023	RMRP	Mesomelia	HP:0003027
6023	RMRP	Prominent forehead	HP:0011220
6023	RMRP	Gingival overgrowth	HP:0000212
6023	RMRP	Short neck	HP:0000470
6023	RMRP	Abnormally ossified vertebrae	HP:0100569
6023	RMRP	Decreased antibody level in blood	HP:0004313
6023	RMRP	Tracheal stenosis	HP:0002777
6023	RMRP	Neonatal short-limb short stature	HP:0008921
6023	RMRP	Mucopolysacchariduria	HP:0008155
6023	RMRP	Pruritus	HP:0000989
6023	RMRP	Intellectual disability	HP:0001249
6023	RMRP	Muscular hypotonia	HP:0001252
6023	RMRP	Failure to thrive	HP:0001508
6023	RMRP	Strabismus	HP:0000486
6023	RMRP	Malabsorption	HP:0002024
6023	RMRP	Aplasia/Hypoplasia of the eyebrow	HP:0100840
6023	RMRP	Hyperlordosis	HP:0003307
6023	RMRP	Cervical subluxation	HP:0003308
6023	RMRP	Abnormal lymphocyte morphology	HP:0004332
6023	RMRP	Chronic diarrhea	HP:0002028
6023	RMRP	Fair hair	HP:0002286
6023	RMRP	Metaphyseal chondrodysplasia	HP:0005871
6023	RMRP	Hypoplasia of the odontoid process	HP:0003311
6023	RMRP	Accelerated skeletal maturation	HP:0005616
6023	RMRP	Susceptibility to chickenpox	HP:0005360
6023	RMRP	Esophageal atresia	HP:0002032
6023	RMRP	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
6023	RMRP	Brachycephaly	HP:0000248
6023	RMRP	Visual impairment	HP:0000505
6023	RMRP	Erythroderma	HP:0001019
6023	RMRP	Cellular immunodeficiency	HP:0005374
440193	CCDC88C	Intention tremor	HP:0002080
440193	CCDC88C	Intellectual disability	HP:0001249
440193	CCDC88C	Seizures	HP:0001250
440193	CCDC88C	Hyperreflexia	HP:0001347
440193	CCDC88C	Autosomal dominant inheritance	HP:0000006
440193	CCDC88C	Ventriculomegaly	HP:0002119
440193	CCDC88C	Autosomal recessive inheritance	HP:0000007
440193	CCDC88C	Spastic paraparesis	HP:0002313
440193	CCDC88C	Dysarthria	HP:0001260
440193	CCDC88C	Unsteady gait	HP:0002317
440193	CCDC88C	Hydrocephalus	HP:0000238
440193	CCDC88C	Functional motor deficit	HP:0004302
440193	CCDC88C	Gait ataxia	HP:0002066
440193	CCDC88C	Broad-based gait	HP:0002136
440193	CCDC88C	Scanning speech	HP:0002168
440193	CCDC88C	Congenital onset	HP:0003577
440193	CCDC88C	Dysdiadochokinesis	HP:0002075
440193	CCDC88C	Slow progression	HP:0003677
440193	CCDC88C	Adult onset	HP:0003581
440193	CCDC88C	Dysmetria	HP:0001310
440193	CCDC88C	Pontocerebellar atrophy	HP:0006879
440193	CCDC88C	Vertical supranuclear gaze palsy	HP:0000511
79753	SNIP1	Feeding difficulties	HP:0011968
79753	SNIP1	Umbilical hernia	HP:0001537
79753	SNIP1	Seizures	HP:0001250
79753	SNIP1	Broad jaw	HP:0012802
79753	SNIP1	CNS hypomyelination	HP:0003429
79753	SNIP1	Strabismus	HP:0000486
79753	SNIP1	Ventriculomegaly	HP:0002119
79753	SNIP1	Autosomal recessive inheritance	HP:0000007
79753	SNIP1	Subglottic stenosis	HP:0001607
79753	SNIP1	Broad thumb	HP:0011304
79753	SNIP1	Generalized hypotonia	HP:0001290
79753	SNIP1	Global developmental delay	HP:0001263
79753	SNIP1	Bicuspid aortic valve	HP:0001647
79753	SNIP1	Abnormal facial shape	HP:0001999
79753	SNIP1	Hyporeflexia	HP:0001265
79753	SNIP1	EEG abnormality	HP:0002353
79753	SNIP1	Aortic valve stenosis	HP:0001650
79753	SNIP1	Short palm	HP:0004279
79753	SNIP1	Wide mouth	HP:0000154
79753	SNIP1	Horizontal nystagmus	HP:0000666
79753	SNIP1	Tapered finger	HP:0001182
79753	SNIP1	Bulbous nose	HP:0000414
79753	SNIP1	Macroglossia	HP:0000158
79753	SNIP1	Hypoplasia of the corpus callosum	HP:0002079
79755	ZNF750	Hyperkeratosis	HP:0000962
79755	ZNF750	Autosomal dominant inheritance	HP:0000006
79755	ZNF750	Seborrheic dermatitis	HP:0001051
55180	LINS1	Depressed nasal bridge	HP:0005280
55180	LINS1	Intellectual disability	HP:0001249
55180	LINS1	Poor speech	HP:0002465
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
55187	VPS13D	Hyperreflexia	HP:0001347
55187	VPS13D	Abnormality of the cerebral white matter	HP:0002500
55187	VPS13D	Autosomal recessive inheritance	HP:0000007
55187	VPS13D	Fasciculations	HP:0002380
55187	VPS13D	Gait ataxia	HP:0002066
55187	VPS13D	Peripheral axonal neuropathy	HP:0003477
55187	VPS13D	Distal muscle weakness	HP:0002460
55187	VPS13D	Babinski sign	HP:0003487
55187	VPS13D	Pes cavus	HP:0001761
55187	VPS13D	Ataxia	HP:0001251
55187	VPS13D	Intellectual disability, mild	HP:0001256
55187	VPS13D	Muscular hypotonia of the trunk	HP:0008936
55187	VPS13D	Macrosaccadic oscillations	HP:0032105
55187	VPS13D	Spasticity	HP:0001257
55187	VPS13D	Hypermetric saccades	HP:0007338
55187	VPS13D	Dysarthria	HP:0001260
55187	VPS13D	Distal amyotrophy	HP:0003693
55187	VPS13D	Variable expressivity	HP:0003828
55187	VPS13D	Dystonia	HP:0001332
55187	VPS13D	Motor delay	HP:0001270
55187	VPS13D	Frequent falls	HP:0002359
55187	VPS13D	Myoclonus	HP:0001336
55187	VPS13D	Tremor	HP:0001337
55187	VPS13D	Adult onset	HP:0003581
55187	VPS13D	Nystagmus	HP:0000639
6041	RNASEL	Autosomal dominant inheritance	HP:0000006
6041	RNASEL	Neoplasm	HP:0002664
6041	RNASEL	Prostate cancer	HP:0012125
79776	ZFHX4	Congenital ptosis	HP:0007970
79776	ZFHX4	Autosomal dominant inheritance	HP:0000006
6049	RNF6	Nausea and vomiting	HP:0002017
6049	RNF6	Esophageal carcinoma	HP:0011459
6049	RNF6	Somatic mutation	HP:0001428
6049	RNF6	Autosomal dominant inheritance	HP:0000006
6049	RNF6	Abnormality of the voice	HP:0001608
6049	RNF6	Feeding difficulties in infancy	HP:0008872
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
79783	SUGCT	Hyperthyroidism	HP:0000836
79783	SUGCT	Failure to thrive	HP:0001508
79783	SUGCT	Goiter	HP:0000853
79783	SUGCT	Hypertension	HP:0000822
79783	SUGCT	Autosomal recessive inheritance	HP:0000007
79783	SUGCT	Vomiting	HP:0002013
79783	SUGCT	Diarrhea	HP:0002014
79783	SUGCT	Glutaric aciduria	HP:0003150
55209	SETD5	Drooling	HP:0002307
55209	SETD5	Multicystic kidney dysplasia	HP:0000003
55209	SETD5	Autosomal dominant inheritance	HP:0000006
55209	SETD5	Cataract	HP:0000518
55209	SETD5	Intestinal malrotation	HP:0002566
55209	SETD5	Congenital diaphragmatic hernia	HP:0000776
55209	SETD5	Hip dislocation	HP:0002827
55209	SETD5	Long eyelashes	HP:0000527
55209	SETD5	Primary amenorrhea	HP:0000786
55209	SETD5	Volvulus	HP:0002580
55209	SETD5	Prenatal movement abnormality	HP:0001557
55209	SETD5	Cryptorchidism	HP:0000028
55209	SETD5	Hypoplasia of penis	HP:0008736
55209	SETD5	Myopia	HP:0000545
55209	SETD5	Low anterior hairline	HP:0000294
55209	SETD5	Hypospadias	HP:0000047
55209	SETD5	Short 1st metacarpal	HP:0010034
55209	SETD5	Delayed puberty	HP:0000823
55209	SETD5	Sleep disturbance	HP:0002360
55209	SETD5	Hypoplastic labia majora	HP:0000059
55209	SETD5	Abnormally low-pitched voice	HP:0010300
55209	SETD5	Thick eyebrow	HP:0000574
55209	SETD5	Smooth philtrum	HP:0000319
55209	SETD5	Upslanted palpebral fissure	HP:0000582
55209	SETD5	Ventriculomegaly	HP:0002119
55209	SETD5	Cerebral cortical atrophy	HP:0002120
55209	SETD5	Vesicoureteral reflux	HP:0000076
55209	SETD5	Renal insufficiency	HP:0000083
55209	SETD5	Premature birth	HP:0001622
55209	SETD5	Long philtrum	HP:0000343
55209	SETD5	Scoliosis	HP:0002650
55209	SETD5	Micrognathia	HP:0000347
55209	SETD5	Talipes	HP:0001883
55209	SETD5	Ventricular septal defect	HP:0001629
55209	SETD5	Atrial septal defect	HP:0001631
55209	SETD5	Peripheral neuropathy	HP:0009830
55209	SETD5	Hip dysplasia	HP:0001385
55209	SETD5	Attention deficit hyperactivity disorder	HP:0007018
55209	SETD5	Joint stiffness	HP:0001387
55209	SETD5	Intellectual disability, severe	HP:0010864
55209	SETD5	Low-set, posteriorly rotated ears	HP:0000368
55209	SETD5	Clinodactyly of the 5th finger	HP:0004209
55209	SETD5	Low posterior hairline	HP:0002162
55209	SETD5	Small hand	HP:0200055
55209	SETD5	Neurological speech impairment	HP:0002167
55209	SETD5	Short nose	HP:0003196
55209	SETD5	Nystagmus	HP:0000639
55209	SETD5	Increased nuchal translucency	HP:0010880
55209	SETD5	Abnormality of the uterus	HP:0000130
55209	SETD5	Oligodactyly	HP:0012165
55209	SETD5	Macrotia	HP:0000400
55209	SETD5	Severe postnatal growth retardation	HP:0008850
55209	SETD5	Conductive hearing impairment	HP:0000405
55209	SETD5	Sensorineural hearing impairment	HP:0000407
55209	SETD5	Proximal placement of thumb	HP:0009623
55209	SETD5	Synophrys	HP:0000664
55209	SETD5	Downturned corners of mouth	HP:0002714
55209	SETD5	Phthisis bulbi	HP:0000667
55209	SETD5	Atresia of the external auditory canal	HP:0000413
55209	SETD5	Radioulnar synostosis	HP:0002974
55209	SETD5	Depressed nasal bridge	HP:0005280
55209	SETD5	Truncal obesity	HP:0001956
55209	SETD5	Dental crowding	HP:0000678
55209	SETD5	Micromelia	HP:0002983
55209	SETD5	Feeding difficulties in infancy	HP:0008872
55209	SETD5	Delayed eruption of teeth	HP:0000684
55209	SETD5	Bilateral single transverse palmar creases	HP:0007598
55209	SETD5	Cleft palate	HP:0000175
55209	SETD5	Widely spaced teeth	HP:0000687
55209	SETD5	Generalized hirsutism	HP:0002230
55209	SETD5	Delayed skeletal maturation	HP:0002750
55209	SETD5	Aplasia/Hypoplasia of the cerebellum	HP:0007360
55209	SETD5	Cutis marmorata	HP:0000965
55209	SETD5	Choanal atresia	HP:0000453
55209	SETD5	Autism	HP:0000717
55209	SETD5	Anteverted nares	HP:0000463
55209	SETD5	Obsessive-compulsive behavior	HP:0000722
55209	SETD5	Short neck	HP:0000470
55209	SETD5	High palate	HP:0000218
55209	SETD5	Thin upper lip vermilion	HP:0000219
55209	SETD5	Intellectual disability	HP:0001249
55209	SETD5	Elbow dislocation	HP:0003042
55209	SETD5	Microcornea	HP:0000482
55209	SETD5	Short stature	HP:0004322
55209	SETD5	Seizures	HP:0001250
55209	SETD5	Astigmatism	HP:0000483
55209	SETD5	Anxiety	HP:0000739
55209	SETD5	Muscular hypotonia	HP:0001252
55209	SETD5	Gastroesophageal reflux	HP:0002020
55209	SETD5	Failure to thrive	HP:0001508
55209	SETD5	Pyloric stenosis	HP:0002021
55209	SETD5	Strabismus	HP:0000486
55209	SETD5	Intrauterine growth retardation	HP:0001511
55209	SETD5	Thin vermilion border	HP:0000233
55209	SETD5	Toe syndactyly	HP:0001770
55209	SETD5	Hyperlordosis	HP:0003307
55209	SETD5	Short foot	HP:0001773
55209	SETD5	Delayed speech and language development	HP:0000750
55209	SETD5	Global developmental delay	HP:0001263
55209	SETD5	Curly eyelashes	HP:0007665
55209	SETD5	Blepharitis	HP:0000498
55209	SETD5	Glaucoma	HP:0000501
55209	SETD5	Kyphosis	HP:0002808
55209	SETD5	Brachycephaly	HP:0000248
55209	SETD5	Highly arched eyebrow	HP:0002553
55209	SETD5	Hypertonia	HP:0001276
55209	SETD5	Microcephaly	HP:0000252
55209	SETD5	Ptosis	HP:0000508
55209	SETD5	Hypoplastic nipples	HP:0002557
55209	SETD5	Pectus excavatum	HP:0000767
79784	MYH14	Abnormality of the foot	HP:0001760
79784	MYH14	EMG: myopathic abnormalities	HP:0003458
79784	MYH14	Seizures	HP:0001250
79784	MYH14	Fatty replacement of skeletal muscle	HP:0012548
79784	MYH14	Areflexia	HP:0001284
79784	MYH14	Increased variability in muscle fiber diameter	HP:0003557
79784	MYH14	Autosomal dominant inheritance	HP:0000006
79784	MYH14	Peripheral neuropathy	HP:0009830
79784	MYH14	Progressive distal muscle weakness	HP:0009063
79784	MYH14	Hoarse voice	HP:0001609
79784	MYH14	Structural foot deformity	HP:0010219
79784	MYH14	Bilateral sensorineural hearing impairment	HP:0008619
79784	MYH14	Lower limb muscle weakness	HP:0007340
79784	MYH14	Distal amyotrophy	HP:0003693
79784	MYH14	Hyporeflexia	HP:0001265
79784	MYH14	Mildly elevated creatine kinase	HP:0008180
79784	MYH14	Proximal muscle weakness	HP:0003701
79784	MYH14	Mitochondrial swelling	HP:0030774
79784	MYH14	Progressive sensorineural hearing impairment	HP:0000408
79784	MYH14	Tremor	HP:0001337
79784	MYH14	Arthritis	HP:0001369
79784	MYH14	Decreased nerve conduction velocity	HP:0000762
79784	MYH14	Distal muscle weakness	HP:0002460
79784	MYH14	Progressive	HP:0003676
55210	ATAD3A	Feeding difficulties	HP:0011968
55210	ATAD3A	Pectus carinatum	HP:0000768
55210	ATAD3A	Cataract	HP:0000518
55210	ATAD3A	Upslanted palpebral fissure	HP:0000582
55210	ATAD3A	Autosomal dominant inheritance	HP:0000006
55210	ATAD3A	Autosomal recessive inheritance	HP:0000007
55210	ATAD3A	Optic atrophy	HP:0000648
55210	ATAD3A	Absence seizure	HP:0002121
55210	ATAD3A	Infantile onset	HP:0003593
55210	ATAD3A	Generalized hypotonia	HP:0001290
55210	ATAD3A	3-Methylglutaconic aciduria	HP:0003535
55210	ATAD3A	Spastic gait	HP:0002064
55210	ATAD3A	Gait ataxia	HP:0002066
55210	ATAD3A	Long face	HP:0000276
55210	ATAD3A	Corneal opacity	HP:0007957
55210	ATAD3A	Peripheral axonal neuropathy	HP:0003477
55210	ATAD3A	Frontal bossing	HP:0002007
55210	ATAD3A	Positional foot deformity	HP:0005656
55210	ATAD3A	Scoliosis	HP:0002650
55210	ATAD3A	Micrognathia	HP:0000347
55210	ATAD3A	High forehead	HP:0000348
55210	ATAD3A	Cryptorchidism	HP:0000028
55210	ATAD3A	Abnormality of the foot	HP:0001760
55210	ATAD3A	Poor speech	HP:0002465
55210	ATAD3A	Myopia	HP:0000545
55210	ATAD3A	Optic nerve hypoplasia	HP:0000609
55210	ATAD3A	Intellectual disability	HP:0001249
55210	ATAD3A	Seizures	HP:0001250
55210	ATAD3A	Ataxia	HP:0001251
55210	ATAD3A	Hypertrophic cardiomyopathy	HP:0001639
55210	ATAD3A	Increased serum lactate	HP:0002151
55210	ATAD3A	Muscular hypotonia of the trunk	HP:0008936
55210	ATAD3A	Hip dysplasia	HP:0001385
55210	ATAD3A	Spasticity	HP:0001257
55210	ATAD3A	Lower limb amyotrophy	HP:0007210
55210	ATAD3A	Deeply set eye	HP:0000490
55210	ATAD3A	Inability to walk	HP:0002540
55210	ATAD3A	Distal amyotrophy	HP:0003693
55210	ATAD3A	Delayed speech and language development	HP:0000750
55210	ATAD3A	Mandibular prognathia	HP:0000303
55210	ATAD3A	Global developmental delay	HP:0001263
55210	ATAD3A	Esotropia	HP:0000565
55210	ATAD3A	Delayed puberty	HP:0000823
55210	ATAD3A	Cerebellar atrophy	HP:0001272
55210	ATAD3A	Sleep disturbance	HP:0002360
55210	ATAD3A	Short nose	HP:0003196
55210	ATAD3A	Nystagmus	HP:0000639
55212	BBS7	Abnormal electroretinogram	HP:0000512
55212	BBS7	Skeletal muscle atrophy	HP:0003202
55212	BBS7	Multicystic kidney dysplasia	HP:0000003
55212	BBS7	Pigmentary retinopathy	HP:0000580
55212	BBS7	Autosomal recessive inheritance	HP:0000007
55212	BBS7	Hypogonadism	HP:0000135
55212	BBS7	Polydactyly	HP:0010442
55212	BBS7	Postaxial hand polydactyly	HP:0001162
55212	BBS7	Hypoplasia of the ovary	HP:0008724
55212	BBS7	Finger syndactyly	HP:0006101
55212	BBS7	Short neck	HP:0000470
55212	BBS7	Cryptorchidism	HP:0000028
55212	BBS7	Hypoplasia of penis	HP:0008736
55212	BBS7	Intellectual disability	HP:0001249
55212	BBS7	Short stature	HP:0004322
55212	BBS7	Nephrotic syndrome	HP:0000100
55212	BBS7	Obesity	HP:0001513
55212	BBS7	External genital hypoplasia	HP:0003241
55212	BBS7	Prominent nasal bridge	HP:0000426
55212	BBS7	Hearing impairment	HP:0000365
55212	BBS7	Downslanted palpebral fissures	HP:0000494
55212	BBS7	Low-set, posteriorly rotated ears	HP:0000368
55212	BBS7	Hepatic fibrosis	HP:0001395
55212	BBS7	Hypertension	HP:0000822
55212	BBS7	Generalized hirsutism	HP:0002230
55212	BBS7	Neurological speech impairment	HP:0002167
55212	BBS7	Medial flaring of the eyebrow	HP:0010747
55212	BBS7	Rod-cone dystrophy	HP:0000510
55212	BBS7	Nystagmus	HP:0000639
55213	RCBTB1	Premature ovarian insufficiency	HP:0008209
55213	RCBTB1	Secondary amenorrhea	HP:0000869
55213	RCBTB1	Goiter	HP:0000853
55213	RCBTB1	Autosomal recessive inheritance	HP:0000007
55213	RCBTB1	Retinal dystrophy	HP:0000556
55213	RCBTB1	Pulmonary fibrosis	HP:0002206
55213	RCBTB1	Reduced visual acuity	HP:0007663
55214	P3H2	Peripheral vitreoretinal degeneration	HP:0200071
55214	P3H2	Cataract	HP:0000518
55214	P3H2	Autosomal recessive inheritance	HP:0000007
55214	P3H2	High myopia	HP:0011003
55214	P3H2	Lens subluxation	HP:0001132
55214	P3H2	Retinal detachment	HP:0000541
79791	FBXO31	Prominent supraorbital ridges	HP:0000336
79791	FBXO31	Intellectual disability	HP:0001249
79791	FBXO31	Autosomal recessive inheritance	HP:0000007
79791	FBXO31	Coarse facial features	HP:0000280
79791	FBXO31	Deeply set eye	HP:0000490
79791	FBXO31	Thick eyebrow	HP:0000574
79791	FBXO31	Wide nasal bridge	HP:0000431
55215	FANCI	Umbilical hernia	HP:0001537
55215	FANCI	Duodenal stenosis	HP:0100867
55215	FANCI	Arnold-Chiari malformation	HP:0002308
55215	FANCI	Cataract	HP:0000518
55215	FANCI	Autosomal recessive inheritance	HP:0000007
55215	FANCI	Abnormality of femur morphology	HP:0002823
55215	FANCI	Proptosis	HP:0000520
55215	FANCI	Decreased fertility in males	HP:0012041
55215	FANCI	Recurrent urinary tract infections	HP:0000010
55215	FANCI	Hip dislocation	HP:0002827
55215	FANCI	Dolichocephaly	HP:0000268
55215	FANCI	Tracheoesophageal fistula	HP:0002575
55215	FANCI	Oligohydramnios	HP:0001562
55215	FANCI	Azoospermia	HP:0000027
55215	FANCI	Cryptorchidism	HP:0000028
55215	FANCI	Hypopigmented skin patches	HP:0001053
55215	FANCI	Epicanthus	HP:0000286
55215	FANCI	Weight loss	HP:0001824
55215	FANCI	Myopia	HP:0000545
55215	FANCI	Bicornuate uterus	HP:0000813
55215	FANCI	Myelodysplasia	HP:0002863
55215	FANCI	Hypospadias	HP:0000047
55215	FANCI	Absent thumb	HP:0009777
55215	FANCI	Short 1st metacarpal	HP:0010034
55215	FANCI	Absent septum pellucidum	HP:0001331
55215	FANCI	Hypothyroidism	HP:0000821
55215	FANCI	Aplasia/Hypoplasia of the uvula	HP:0010293
55215	FANCI	Microphthalmia	HP:0000568
55215	FANCI	Growth hormone deficiency	HP:0000824
55215	FANCI	Hypertelorism	HP:0000316
55215	FANCI	Hyperreflexia	HP:0001347
55215	FANCI	Facial asymmetry	HP:0000324
55215	FANCI	Triangular face	HP:0000325
55215	FANCI	Upslanted palpebral fissure	HP:0000582
55215	FANCI	Ventriculomegaly	HP:0002119
55215	FANCI	Hydroureter	HP:0000072
55215	FANCI	Thrombocytopenia	HP:0001873
55215	FANCI	Renal insufficiency	HP:0000083
55215	FANCI	Sloping forehead	HP:0000340
55215	FANCI	Horseshoe kidney	HP:0000085
55215	FANCI	Renal hypoplasia	HP:0000089
55215	FANCI	Scoliosis	HP:0002650
55215	FANCI	Leukopenia	HP:0001882
55215	FANCI	Micrognathia	HP:0000347
55215	FANCI	Ventricular septal defect	HP:0001629
55215	FANCI	Atrial septal defect	HP:0001631
55215	FANCI	Colpocephaly	HP:0030048
55215	FANCI	Abnormality of the hypothalamus-pituitary axis	HP:0000864
55215	FANCI	Optic nerve hypoplasia	HP:0000609
55215	FANCI	Tetralogy of Fallot	HP:0001636
55215	FANCI	Aplasia/Hypoplasia of the radius	HP:0006501
55215	FANCI	Hypertrophic cardiomyopathy	HP:0001639
55215	FANCI	Patent ductus arteriosus	HP:0001643
55215	FANCI	Hearing impairment	HP:0000365
55215	FANCI	Abnormal aortic valve morphology	HP:0001646
55215	FANCI	Spina bifida	HP:0002414
55215	FANCI	Abnormality of the liver	HP:0001392
55215	FANCI	Clinodactyly of the 5th finger	HP:0004209
55215	FANCI	Aplasia/Hypoplasia of the iris	HP:0008053
55215	FANCI	Patent foramen ovale	HP:0001655
55215	FANCI	Aplasia/Hypoplasia of fingers	HP:0006265
55215	FANCI	External ear malformation	HP:0008572
55215	FANCI	Nystagmus	HP:0000639
55215	FANCI	Fused cervical vertebrae	HP:0002949
55215	FANCI	Hypogonadism	HP:0000135
55215	FANCI	Multiple cafe-au-lait spots	HP:0007565
55215	FANCI	Abnormal aortic morphology	HP:0001679
55215	FANCI	Pyridoxine-responsive sideroblastic anemia	HP:0005522
55215	FANCI	Abnormality of chromosome stability	HP:0003220
55215	FANCI	Chromosomal breakage induced by crosslinking agents	HP:0003221
55215	FANCI	Conductive hearing impairment	HP:0000405
55215	FANCI	Bone marrow hypocellularity	HP:0005528
55215	FANCI	Clubbing of toes	HP:0100760
55215	FANCI	Cranial nerve paralysis	HP:0006824
55215	FANCI	Cleft palate	HP:0000175
55215	FANCI	Triphalangeal thumb	HP:0001199
55215	FANCI	Abnormal renal morphology	HP:0012210
55215	FANCI	Arteriovenous malformation	HP:0100026
55215	FANCI	Abnormal localization of kidney	HP:0100542
55215	FANCI	Almond-shaped palpebral fissure	HP:0007874
55215	FANCI	Meckel diverticulum	HP:0002245
55215	FANCI	Choanal atresia	HP:0000453
55215	FANCI	Short palpebral fissure	HP:0012745
55215	FANCI	Aganglionic megacolon	HP:0002251
55215	FANCI	Hypoplasia of the ulna	HP:0003022
55215	FANCI	Pallor	HP:0000980
55215	FANCI	Finger syndactyly	HP:0006101
55215	FANCI	Frontal bossing	HP:0002007
55215	FANCI	Abnormality of cardiovascular system morphology	HP:0030680
55215	FANCI	High palate	HP:0000218
55215	FANCI	Abnormal carotid artery morphology	HP:0005344
55215	FANCI	Intellectual disability	HP:0001249
55215	FANCI	Short stature	HP:0004322
55215	FANCI	Astigmatism	HP:0000483
55215	FANCI	Pes planus	HP:0001763
55215	FANCI	Absent testis	HP:0010469
55215	FANCI	Renal hypoplasia/aplasia	HP:0008678
55215	FANCI	Strabismus	HP:0000486
55215	FANCI	Intrauterine growth retardation	HP:0001511
55215	FANCI	Anal atresia	HP:0002023
55215	FANCI	Irregular hyperpigmentation	HP:0007400
55215	FANCI	Toe syndactyly	HP:0001770
55215	FANCI	Abnormality of the preputium	HP:0100587
55215	FANCI	Hydrocephalus	HP:0000238
55215	FANCI	Global developmental delay	HP:0001263
55215	FANCI	Visual impairment	HP:0000505
55215	FANCI	Agenesis of corpus callosum	HP:0001274
55215	FANCI	Microcephaly	HP:0000252
55215	FANCI	Ptosis	HP:0000508
55215	FANCI	Reduced bone mineral density	HP:0004349
79797	ZNF408	Abnormal electroretinogram	HP:0000512
79797	ZNF408	Hyperreflexia	HP:0001347
79797	ZNF408	Cataract	HP:0000518
79797	ZNF408	Autosomal dominant inheritance	HP:0000006
79797	ZNF408	Hypogonadism	HP:0000135
79797	ZNF408	Autosomal recessive inheritance	HP:0000007
79797	ZNF408	Optic atrophy	HP:0000648
79797	ZNF408	Hyperinsulinemia	HP:0000842
79797	ZNF408	Anteverted nares	HP:0000463
79797	ZNF408	Progressive visual loss	HP:0000529
79797	ZNF408	Posterior vitreous detachment	HP:0001489
79797	ZNF408	Conductive hearing impairment	HP:0000405
79797	ZNF408	Chorioretinal atrophy	HP:0000533
79797	ZNF408	Nyctalopia	HP:0000662
79797	ZNF408	Sensorineural hearing impairment	HP:0000407
79797	ZNF408	Abnormality of retinal pigmentation	HP:0007703
79797	ZNF408	Ophthalmoplegia	HP:0000602
79797	ZNF408	Type II diabetes mellitus	HP:0005978
79797	ZNF408	Exudative vitreoretinopathy	HP:0030490
79797	ZNF408	Atypical scarring of skin	HP:0000987
79797	ZNF408	Retinal detachment	HP:0000541
79797	ZNF408	Optic disc pallor	HP:0000543
79797	ZNF408	Hypoplasia of penis	HP:0008736
79797	ZNF408	Intellectual disability	HP:0001249
79797	ZNF408	Myopia	HP:0000545
79797	ZNF408	Abnormal testis morphology	HP:0000035
79797	ZNF408	Photophobia	HP:0000613
79797	ZNF408	Obesity	HP:0001513
79797	ZNF408	Blindness	HP:0000618
79797	ZNF408	Posterior subcapsular cataract	HP:0007787
79797	ZNF408	Constriction of peripheral visual field	HP:0001133
79797	ZNF408	Abnormal retinal vascular morphology	HP:0008046
79797	ZNF408	Wide nasal bridge	HP:0000431
79797	ZNF408	Reduced visual acuity	HP:0007663
79797	ZNF408	Peripapillary atrophy	HP:0500087
79797	ZNF408	Keratoconus	HP:0000563
79797	ZNF408	Glaucoma	HP:0000501
79797	ZNF408	Progressive night blindness	HP:0007675
79797	ZNF408	Rod-cone dystrophy	HP:0000510
79797	ZNF408	Nystagmus	HP:0000639
79796	ALG9	Omphalocele	HP:0001539
79796	ALG9	Wide anterior fontanel	HP:0000260
79796	ALG9	Ascites	HP:0001541
79796	ALG9	Autosomal recessive inheritance	HP:0000007
79796	ALG9	Abnormal cardiac septum morphology	HP:0001671
79796	ALG9	Congenital diaphragmatic hernia	HP:0000776
79796	ALG9	Proptosis	HP:0000520
79796	ALG9	Generalized hypotonia	HP:0001290
79796	ALG9	Delayed CNS myelination	HP:0002188
79796	ALG9	Ulnar deviation of the hand	HP:0009487
79796	ALG9	Retrognathia	HP:0000278
79796	ALG9	Polyhydramnios	HP:0001561
79796	ALG9	Hepatosplenomegaly	HP:0001433
79796	ALG9	Oligohydramnios	HP:0001562
79796	ALG9	Epicanthus	HP:0000286
79796	ALG9	Depressed nasal bridge	HP:0005280
79796	ALG9	Poor speech	HP:0002465
79796	ALG9	Pericardial effusion	HP:0001698
79796	ALG9	Pulmonary hypoplasia	HP:0002089
79796	ALG9	Bicornuate uterus	HP:0000813
79796	ALG9	Underdeveloped nasal alae	HP:0000430
79796	ALG9	Narrow greater sacrosciatic notches	HP:0003375
79796	ALG9	Abnormal lung lobation	HP:0002101
79796	ALG9	Esotropia	HP:0000565
79796	ALG9	Convex nasal ridge	HP:0000444
79796	ALG9	Hypertelorism	HP:0000316
79796	ALG9	Delayed skeletal maturation	HP:0002750
79796	ALG9	Cognitive impairment	HP:0100543
79796	ALG9	Smooth philtrum	HP:0000319
79796	ALG9	Hyperreflexia	HP:0001347
79796	ALG9	Epileptic encephalopathy	HP:0200134
79796	ALG9	Metaphyseal widening	HP:0003016
79796	ALG9	Edema	HP:0000969
79796	ALG9	Abnormal facial shape	HP:0001999
79796	ALG9	Short long bone	HP:0003026
79796	ALG9	Wide intermamillary distance	HP:0006610
79796	ALG9	Short neck	HP:0000470
79796	ALG9	Frontal bossing	HP:0002007
79796	ALG9	Long philtrum	HP:0000343
79796	ALG9	Large fleshy ears	HP:0002265
79796	ALG9	Thickened nuchal skin fold	HP:0000474
79796	ALG9	Micrognathia	HP:0000347
79796	ALG9	Abnormal heart morphology	HP:0001627
79796	ALG9	Flexion contracture	HP:0001371
79796	ALG9	Skeletal dysplasia	HP:0002652
79796	ALG9	Intellectual disability	HP:0001249
79796	ALG9	Seizures	HP:0001250
79796	ALG9	Failure to thrive	HP:0001508
79796	ALG9	Muscular hypotonia	HP:0001252
79796	ALG9	Posteriorly rotated ears	HP:0000358
79796	ALG9	Decreased skull ossification	HP:0004331
79796	ALG9	Global brain atrophy	HP:0002283
79796	ALG9	Global developmental delay	HP:0001263
79796	ALG9	Polycystic kidney dysplasia	HP:0000113
79796	ALG9	Low-set ears	HP:0000369
79796	ALG9	Inverted nipples	HP:0003186
79796	ALG9	Hepatic failure	HP:0001399
79796	ALG9	Brachycephaly	HP:0000248
79796	ALG9	Cerebellar atrophy	HP:0001272
79796	ALG9	Congenital onset	HP:0003577
79796	ALG9	Telecanthus	HP:0000506
79796	ALG9	Microcephaly	HP:0000252
79796	ALG9	Short nose	HP:0003196
79796	ALG9	Periportal fibrosis	HP:0001405
79798	ARMC5	Hyperglycemia	HP:0003074
79798	ARMC5	Thin skin	HP:0000963
79798	ARMC5	Failure to thrive	HP:0001508
79798	ARMC5	Truncal obesity	HP:0001956
79798	ARMC5	Autosomal dominant inheritance	HP:0000006
79798	ARMC5	Macronodular adrenal hyperplasia	HP:0008231
79798	ARMC5	Abdominal obesity	HP:0012743
79798	ARMC5	Meningioma	HP:0002858
79798	ARMC5	Osteoporosis	HP:0000939
79798	ARMC5	Depressivity	HP:0000716
79798	ARMC5	Muscle weakness	HP:0001324
79798	ARMC5	Menometrorrhagia	HP:0400008
79798	ARMC5	Bruising susceptibility	HP:0000978
79798	ARMC5	Diabetes mellitus	HP:0000819
79798	ARMC5	Nephrolithiasis	HP:0000787
79798	ARMC5	Somatic mutation	HP:0001428
79798	ARMC5	Generalized hirsutism	HP:0002230
79798	ARMC5	Hypertension	HP:0000822
79798	ARMC5	Round face	HP:0000311
79798	ARMC5	Fatigue	HP:0012378
79803	HPS6	Prolonged bleeding time	HP:0003010
79803	HPS6	Impaired ADP-induced platelet aggregation	HP:0004866
79803	HPS6	Recurrent upper respiratory tract infections	HP:0002788
79803	HPS6	Photophobia	HP:0000613
79803	HPS6	Epistaxis	HP:0000421
79803	HPS6	Strabismus	HP:0000486
79803	HPS6	Autosomal recessive inheritance	HP:0000007
79803	HPS6	Absent foveal reflex	HP:0030825
79803	HPS6	Abnormal platelet granules	HP:0011883
79803	HPS6	Reduced visual acuity	HP:0007663
79803	HPS6	Macular hypoplasia	HP:0001104
79803	HPS6	Bruising susceptibility	HP:0000978
79803	HPS6	Ocular albinism	HP:0001107
79803	HPS6	Albinism	HP:0001022
79803	HPS6	Nystagmus	HP:0000639
79809	TTC21B	Short thorax	HP:0010306
79809	TTC21B	Brachydactyly	HP:0001156
79809	TTC21B	Abnormality of the ribs	HP:0000772
79809	TTC21B	Short ribs	HP:0000773
79809	TTC21B	Narrow chest	HP:0000774
79809	TTC21B	Autosomal dominant inheritance	HP:0000006
79809	TTC21B	Autosomal recessive inheritance	HP:0000007
79809	TTC21B	Polydactyly	HP:0010442
79809	TTC21B	Postaxial hand polydactyly	HP:0001162
79809	TTC21B	Short long bone	HP:0003026
79809	TTC21B	Renal insufficiency	HP:0000083
79809	TTC21B	Cone-shaped epiphysis	HP:0010579
79809	TTC21B	Abnormality of pelvic girdle bone morphology	HP:0002644
79809	TTC21B	Abnormality of retinal pigmentation	HP:0007703
79809	TTC21B	Nephronophthisis	HP:0000090
79809	TTC21B	Skeletal dysplasia	HP:0002652
79809	TTC21B	Short stature	HP:0004322
79809	TTC21B	Retinal degeneration	HP:0000546
79809	TTC21B	Postaxial foot polydactyly	HP:0001830
79809	TTC21B	Micromelia	HP:0002983
79809	TTC21B	Feeding difficulties in infancy	HP:0008872
79809	TTC21B	Toe syndactyly	HP:0001770
79809	TTC21B	Short foot	HP:0001773
79809	TTC21B	Respiratory insufficiency	HP:0002093
79809	TTC21B	Aplasia/Hypoplasia of the lungs	HP:0006703
79809	TTC21B	Abnormality of the metaphysis	HP:0000944
79809	TTC21B	Abnormality of the liver	HP:0001392
79809	TTC21B	Nephropathy	HP:0000112
79809	TTC21B	Abnormality of the clavicle	HP:0000889
79809	TTC21B	Stage 5 chronic kidney disease	HP:0003774
79809	TTC21B	Abnormality of the sternum	HP:0000766
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	Midface retrusion	HP:0011800
79813	EHMT1	Coarse facial features	HP:0000280
79813	EHMT1	Synophrys	HP:0000664
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	U-Shaped upper lip vermilion	HP:0010806
79813	EHMT1	Micropenis	HP:0000054
79813	EHMT1	Natal tooth	HP:0000695
79813	EHMT1	Sleep disturbance	HP:0002360
79813	EHMT1	Protruding tongue	HP:0010808
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 seizure	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	Seizures	HP:0001250
79813	EHMT1	Tracheobronchomalacia	HP:0002786
79813	EHMT1	Talipes equinovarus	HP:0001762
79813	EHMT1	Anxiety	HP:0000739
79813	EHMT1	Gastroesophageal reflux	HP:0002020
79813	EHMT1	Failure to thrive	HP:0001508
79813	EHMT1	Muscular hypotonia	HP:0001252
79813	EHMT1	Tetralogy of Fallot	HP:0001636
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	Short nose	HP:0003196
79813	EHMT1	Mutism	HP:0002300
79813	EHMT1	Subcortical cerebral atrophy	HP:0012157
55240	STEAP3	Hepatomegaly	HP:0002240
55240	STEAP3	Autosomal dominant inheritance	HP:0000006
55240	STEAP3	Hypogonadism	HP:0000135
55240	STEAP3	Adrenal insufficiency	HP:0000846
55240	STEAP3	Splenomegaly	HP:0001744
55240	STEAP3	Increased serum ferritin	HP:0003281
55240	STEAP3	Pallor	HP:0000980
55240	STEAP3	Anisopoikilocytosis	HP:0004823
55240	STEAP3	Hepatosplenomegaly	HP:0001433
55240	STEAP3	Fatigue	HP:0012378
55240	STEAP3	Azoospermia	HP:0000027
55240	STEAP3	Elevated hepatic transaminase	HP:0002910
55240	STEAP3	Poikilocytosis	HP:0004447
55240	STEAP3	Abnormality of the hypothalamus-pituitary axis	HP:0000864
55240	STEAP3	Growth delay	HP:0001510
55240	STEAP3	Dysplastic erythropoesis	HP:0012134
55240	STEAP3	Hypochromia	HP:0032231
55240	STEAP3	Reticulocytopenia	HP:0001896
55240	STEAP3	Decreased mean corpuscular volume	HP:0025066
55240	STEAP3	Anemia	HP:0001903
55240	STEAP3	Decreased transferrin saturation	HP:0012464
55240	STEAP3	Elevated hepatic iron concentration	HP:0012465
55240	STEAP3	Hypothyroidism	HP:0000821
55240	STEAP3	Increased serum iron	HP:0003452
55240	STEAP3	Cafe-au-lait spot	HP:0000957
79816	TLE6	Autosomal recessive inheritance	HP:0000007
79816	TLE6	Female infertility	HP:0008222
6091	ROBO1	Hypoplasia of penis	HP:0008736
6091	ROBO1	Intellectual disability	HP:0001249
6091	ROBO1	Seizures	HP:0001250
6091	ROBO1	Short stature	HP:0004322
6091	ROBO1	Adrenal hypoplasia	HP:0000835
6091	ROBO1	Failure to thrive	HP:0001508
6091	ROBO1	Diabetes insipidus	HP:0000873
6091	ROBO1	Septo-optic dysplasia	HP:0100842
6091	ROBO1	Ectopic posterior pituitary	HP:0011755
6091	ROBO1	Global developmental delay	HP:0001263
6091	ROBO1	Death in infancy	HP:0001522
6091	ROBO1	Primary amenorrhea	HP:0000786
6091	ROBO1	Hypothyroidism	HP:0000821
6091	ROBO1	Hypoglycemia	HP:0001943
6091	ROBO1	Delayed puberty	HP:0000823
6091	ROBO1	Cryptorchidism	HP:0000028
6092	ROBO2	Autosomal dominant inheritance	HP:0000006
6092	ROBO2	Renal hypoplasia	HP:0000089
6092	ROBO2	Vesicoureteral reflux	HP:0000076
161742	SPRED1	Macrocephaly	HP:0000256
161742	SPRED1	Axillary freckling	HP:0000997
161742	SPRED1	Triangular face	HP:0000325
161742	SPRED1	Autosomal dominant inheritance	HP:0000006
161742	SPRED1	Attention deficit hyperactivity disorder	HP:0007018
161742	SPRED1	Generalized hypotonia	HP:0001290
161742	SPRED1	Neurofibromas	HP:0001067
161742	SPRED1	Downslanted palpebral fissures	HP:0000494
161742	SPRED1	Low-set, posteriorly rotated ears	HP:0000368
161742	SPRED1	Specific learning disability	HP:0001328
161742	SPRED1	High, narrow palate	HP:0002705
161742	SPRED1	Low posterior hairline	HP:0002162
161742	SPRED1	Multiple lipomas	HP:0001012
161742	SPRED1	Short neck	HP:0000470
161742	SPRED1	High palate	HP:0000218
161742	SPRED1	Micrognathia	HP:0000347
161742	SPRED1	Hypertelorism	HP:0000316
161742	SPRED1	Ptosis	HP:0000508
161742	SPRED1	Cafe-au-lait spot	HP:0000957
161742	SPRED1	Abnormality of the sternum	HP:0000766
161742	SPRED1	Epicanthus	HP:0000286
79823	CAMKMT	Depressed nasal bridge	HP:0005280
79823	CAMKMT	Seizures	HP:0001250
79823	CAMKMT	Failure to thrive	HP:0001508
79823	CAMKMT	Muscular hypotonia	HP:0001252
79823	CAMKMT	Intellectual disability, moderate	HP:0002342
79823	CAMKMT	Growth delay	HP:0001510
79823	CAMKMT	Hypogonadism	HP:0000135
79823	CAMKMT	Nasal speech	HP:0001611
79823	CAMKMT	Global developmental delay	HP:0001263
79823	CAMKMT	Long eyelashes	HP:0000527
79823	CAMKMT	Low-set, posteriorly rotated ears	HP:0000368
79823	CAMKMT	Nephrolithiasis	HP:0000787
79823	CAMKMT	Hypocalcemia	HP:0002901
79823	CAMKMT	Decreased fetal movement	HP:0001558
79823	CAMKMT	Hypoglycemia	HP:0001943
79823	CAMKMT	Frontal bossing	HP:0002007
79823	CAMKMT	Lactic acidosis	HP:0003128
79823	CAMKMT	Cystinuria	HP:0003131
79823	CAMKMT	Mitochondrial respiratory chain defects	HP:0200125
6094	ROM1	Abnormal electroretinogram	HP:0000512
6094	ROM1	Hyperreflexia	HP:0001347
6094	ROM1	Pigmentary retinopathy	HP:0000580
6094	ROM1	Cataract	HP:0000518
6094	ROM1	Autosomal dominant inheritance	HP:0000006
6094	ROM1	Hypogonadism	HP:0000135
6094	ROM1	Autosomal recessive inheritance	HP:0000007
6094	ROM1	Optic atrophy	HP:0000648
6094	ROM1	Hyperinsulinemia	HP:0000842
6094	ROM1	X-linked recessive inheritance	HP:0001419
6094	ROM1	Anteverted nares	HP:0000463
6094	ROM1	Conductive hearing impairment	HP:0000405
6094	ROM1	Chorioretinal atrophy	HP:0000533
6094	ROM1	Nyctalopia	HP:0000662
6094	ROM1	Adult-onset night blindness	HP:0007830
6094	ROM1	Sensorineural hearing impairment	HP:0000407
6094	ROM1	Abnormality of retinal pigmentation	HP:0007703
6094	ROM1	Ophthalmoplegia	HP:0000602
6094	ROM1	Type II diabetes mellitus	HP:0005978
6094	ROM1	Atypical scarring of skin	HP:0000987
6094	ROM1	Hypoplasia of penis	HP:0008736
6094	ROM1	Intellectual disability	HP:0001249
6094	ROM1	Abnormal testis morphology	HP:0000035
6094	ROM1	Attenuation of retinal blood vessels	HP:0007843
6094	ROM1	Photophobia	HP:0000613
6094	ROM1	Obesity	HP:0001513
6094	ROM1	Blindness	HP:0000618
6094	ROM1	Constriction of peripheral visual field	HP:0001133
6094	ROM1	Abnormal retinal vascular morphology	HP:0008046
6094	ROM1	Wide nasal bridge	HP:0000431
6094	ROM1	Keratoconus	HP:0000563
6094	ROM1	Glaucoma	HP:0000501
6094	ROM1	Abnormality of fundus pigmentation	HP:0031605
6094	ROM1	Progressive night blindness	HP:0007675
6094	ROM1	Rod-cone dystrophy	HP:0000510
6094	ROM1	Nystagmus	HP:0000639
6095	RORA	Intellectual disability	HP:0001249
6095	RORA	Seizures	HP:0001250
6095	RORA	Ataxia	HP:0001251
6095	RORA	Autosomal dominant inheritance	HP:0000006
6095	RORA	Incoordination	HP:0002311
6095	RORA	Cerebellar hypoplasia	HP:0001321
6095	RORA	Delayed speech and language development	HP:0000750
6095	RORA	Global developmental delay	HP:0001263
6095	RORA	Oculomotor apraxia	HP:0000657
6095	RORA	Esotropia	HP:0000565
6095	RORA	Motor delay	HP:0001270
6095	RORA	Tremor	HP:0001337
6095	RORA	Nystagmus	HP:0000639
6095	RORA	Pontocerebellar atrophy	HP:0006879
55249	YY1AP1	Renal artery stenosis	HP:0001920
55249	YY1AP1	Arterial stenosis	HP:0100545
55249	YY1AP1	Intellectual disability	HP:0001249
55249	YY1AP1	Carotid artery stenosis	HP:0100546
55249	YY1AP1	Increased susceptibility to fractures	HP:0002659
55249	YY1AP1	Brachydactyly	HP:0001156
55249	YY1AP1	Decreased body weight	HP:0004325
55249	YY1AP1	Recurrent fractures	HP:0002757
55249	YY1AP1	Syndactyly	HP:0001159
55249	YY1AP1	Autosomal recessive inheritance	HP:0000007
55249	YY1AP1	Intellectual disability, borderline	HP:0006889
55249	YY1AP1	Patent ductus arteriosus	HP:0001643
55249	YY1AP1	Bicuspid aortic valve	HP:0001647
55249	YY1AP1	Renovascular hypertension	HP:0100817
55249	YY1AP1	Specific learning disability	HP:0001328
55249	YY1AP1	Finger clinodactyly	HP:0040019
55249	YY1AP1	Hypertension	HP:0000822
55249	YY1AP1	Short palm	HP:0004279
55249	YY1AP1	Coronary artery stenosis	HP:0005145
55249	YY1AP1	Aortic regurgitation	HP:0001659
55249	YY1AP1	Ventricular septal defect	HP:0001629
6097	RORC	Autosomal recessive inheritance	HP:0000007
6097	RORC	Infantile onset	HP:0003593
6097	RORC	Hypoplasia of the thymus	HP:0000778
79827	CLMP	Short stature	HP:0004322
79827	CLMP	Abnormal peristalsis	HP:0030914
79827	CLMP	Lipoatrophy	HP:0100578
79827	CLMP	Failure to thrive	HP:0001508
79827	CLMP	Intestinal malrotation	HP:0002566
79827	CLMP	Autosomal recessive inheritance	HP:0000007
79827	CLMP	Congenital shortened small intestine	HP:0030889
79827	CLMP	Steatorrhea	HP:0002570
79827	CLMP	Chronic diarrhea	HP:0002028
79827	CLMP	Hypotrichosis	HP:0001006
79827	CLMP	Decreased intestinal transit time	HP:0030897
79827	CLMP	Displacement of the urethral meatus	HP:0100627
79827	CLMP	Intestinal hypoplasia	HP:0005245
79827	CLMP	Vomiting	HP:0002013
79827	CLMP	Cognitive impairment	HP:0100543
55250	ELP2	Absent speech	HP:0001344
55250	ELP2	Intellectual disability	HP:0001249
55250	ELP2	Short stature	HP:0004322
55250	ELP2	Hyperreflexia	HP:0001347
55250	ELP2	Autosomal recessive inheritance	HP:0000007
55250	ELP2	Muscular hypotonia of the trunk	HP:0008936
55250	ELP2	Self-injurious behavior	HP:0100716
55250	ELP2	Aggressive behavior	HP:0000718
55250	ELP2	Delayed speech and language development	HP:0000750
55250	ELP2	Global developmental delay	HP:0001263
55250	ELP2	Spastic diplegia	HP:0001264
55250	ELP2	Pica	HP:0011856
55250	ELP2	Choreoathetosis	HP:0001266
55250	ELP2	Poor head control	HP:0002421
55250	ELP2	Congenital onset	HP:0003577
55250	ELP2	Progressive	HP:0003676
55250	ELP2	Stereotypy	HP:0000733
6100	RP9	Abnormal electroretinogram	HP:0000512
6100	RP9	Hyperreflexia	HP:0001347
6100	RP9	Cataract	HP:0000518
6100	RP9	Autosomal dominant inheritance	HP:0000006
6100	RP9	Hypogonadism	HP:0000135
6100	RP9	Optic atrophy	HP:0000648
6100	RP9	Undetectable light- and dark-adapted electroretinogram	HP:0007688
6100	RP9	Hyperinsulinemia	HP:0000842
6100	RP9	Anteverted nares	HP:0000463
6100	RP9	Conductive hearing impairment	HP:0000405
6100	RP9	Nyctalopia	HP:0000662
6100	RP9	Sensorineural hearing impairment	HP:0000407
6100	RP9	Abnormality of retinal pigmentation	HP:0007703
6100	RP9	Ophthalmoplegia	HP:0000602
6100	RP9	Type II diabetes mellitus	HP:0005978
6100	RP9	Atypical scarring of skin	HP:0000987
6100	RP9	Hypoplasia of penis	HP:0008736
6100	RP9	Intellectual disability	HP:0001249
6100	RP9	Abnormal testis morphology	HP:0000035
6100	RP9	Photophobia	HP:0000613
6100	RP9	Obesity	HP:0001513
6100	RP9	Macular atrophy	HP:0007401
6100	RP9	Blindness	HP:0000618
6100	RP9	Constriction of peripheral visual field	HP:0001133
6100	RP9	Abnormal retinal vascular morphology	HP:0008046
6100	RP9	Wide nasal bridge	HP:0000431
6100	RP9	Macular edema	HP:0040049
6100	RP9	Keratoconus	HP:0000563
6100	RP9	Glaucoma	HP:0000501
6100	RP9	Bone spicule pigmentation of the retina	HP:0007737
6100	RP9	Progressive night blindness	HP:0007675
6100	RP9	Rod-cone dystrophy	HP:0000510
6100	RP9	Nystagmus	HP:0000639
55252	ASXL2	Macrocephaly	HP:0000256
55252	ASXL2	Autosomal dominant inheritance	HP:0000006
55252	ASXL2	Ventriculomegaly	HP:0002119
55252	ASXL2	Broad nasal tip	HP:0000455
55252	ASXL2	Proptosis	HP:0000520
55252	ASXL2	Infantile onset	HP:0003593
55252	ASXL2	Generalized hypotonia	HP:0001290
55252	ASXL2	Long face	HP:0000276
55252	ASXL2	Retrognathia	HP:0000278
55252	ASXL2	Hypoglycemia	HP:0001943
55252	ASXL2	Scoliosis	HP:0002650
55252	ASXL2	Atrial septal defect	HP:0001631
55252	ASXL2	Intellectual disability	HP:0001249
55252	ASXL2	Seizures	HP:0001250
55252	ASXL2	Posteriorly rotated ears	HP:0000358
55252	ASXL2	Feeding difficulties in infancy	HP:0008872
55252	ASXL2	Osteoporosis	HP:0000939
55252	ASXL2	Delayed speech and language development	HP:0000750
55252	ASXL2	Global developmental delay	HP:0001263
55252	ASXL2	Deep palmar crease	HP:0006191
55252	ASXL2	Accelerated skeletal maturation	HP:0005616
55252	ASXL2	Low-set ears	HP:0000369
55252	ASXL2	Nevus	HP:0003764
55252	ASXL2	Kyphosis	HP:0002808
55252	ASXL2	Highly arched eyebrow	HP:0002553
55252	ASXL2	Hypertelorism	HP:0000316
55252	ASXL2	Ptosis	HP:0000508
6101	RP1	Abnormal electroretinogram	HP:0000512
6101	RP1	Hyperreflexia	HP:0001347
6101	RP1	Autosomal dominant inheritance	HP:0000006
6101	RP1	Cataract	HP:0000518
6101	RP1	Autosomal recessive inheritance	HP:0000007
6101	RP1	Hypogonadism	HP:0000135
6101	RP1	Undetectable light- and dark-adapted electroretinogram	HP:0007688
6101	RP1	Optic atrophy	HP:0000648
6101	RP1	Hyperinsulinemia	HP:0000842
6101	RP1	Anteverted nares	HP:0000463
6101	RP1	Heterogeneous	HP:0001425
6101	RP1	Conductive hearing impairment	HP:0000405
6101	RP1	Nyctalopia	HP:0000662
6101	RP1	Sensorineural hearing impairment	HP:0000407
6101	RP1	Abnormality of retinal pigmentation	HP:0007703
6101	RP1	Ophthalmoplegia	HP:0000602
6101	RP1	Type II diabetes mellitus	HP:0005978
6101	RP1	Atypical scarring of skin	HP:0000987
6101	RP1	Hypoplasia of penis	HP:0008736
6101	RP1	Myopia	HP:0000545
6101	RP1	Intellectual disability	HP:0001249
6101	RP1	Abnormal testis morphology	HP:0000035
6101	RP1	Photophobia	HP:0000613
6101	RP1	Obesity	HP:0001513
6101	RP1	Blindness	HP:0000618
6101	RP1	Constriction of peripheral visual field	HP:0001133
6101	RP1	Abnormal retinal vascular morphology	HP:0008046
6101	RP1	Wide nasal bridge	HP:0000431
6101	RP1	Keratoconus	HP:0000563
6101	RP1	Glaucoma	HP:0000501
6101	RP1	Bone spicule pigmentation of the retina	HP:0007737
6101	RP1	Progressive night blindness	HP:0007675
6101	RP1	Rod-cone dystrophy	HP:0000510
6101	RP1	Nystagmus	HP:0000639
440275	EIF2AK4	Pulmonary capillary hemangiomatosis	HP:0005954
440275	EIF2AK4	Pulmonary venous occlusion	HP:0006518
440275	EIF2AK4	Autosomal recessive inheritance	HP:0000007
440275	EIF2AK4	Pulmonary arterial hypertension	HP:0002092
440275	EIF2AK4	Dyspnea	HP:0002094
440275	EIF2AK4	Cough	HP:0012735
6102	RP2	Abnormal electroretinogram	HP:0000512
6102	RP2	Chorioretinal degeneration	HP:0200065
6102	RP2	Hyperreflexia	HP:0001347
6102	RP2	Pigmentary retinopathy	HP:0000580
6102	RP2	Cataract	HP:0000518
6102	RP2	Hypogonadism	HP:0000135
6102	RP2	Optic atrophy	HP:0000648
6102	RP2	X-linked inheritance	HP:0001417
6102	RP2	Hyperinsulinemia	HP:0000842
6102	RP2	Anteverted nares	HP:0000463
6102	RP2	Conductive hearing impairment	HP:0000405
6102	RP2	Nyctalopia	HP:0000662
6102	RP2	Sensorineural hearing impairment	HP:0000407
6102	RP2	Abnormality of retinal pigmentation	HP:0007703
6102	RP2	Ophthalmoplegia	HP:0000602
6102	RP2	Type II diabetes mellitus	HP:0005978
6102	RP2	Atypical scarring of skin	HP:0000987
6102	RP2	Hypoplasia of penis	HP:0008736
6102	RP2	Intellectual disability	HP:0001249
6102	RP2	Myopia	HP:0000545
6102	RP2	Abnormal testis morphology	HP:0000035
6102	RP2	Photophobia	HP:0000613
6102	RP2	Obesity	HP:0001513
6102	RP2	Blindness	HP:0000618
6102	RP2	Constriction of peripheral visual field	HP:0001133
6102	RP2	Abnormal retinal vascular morphology	HP:0008046
6102	RP2	Wide nasal bridge	HP:0000431
6102	RP2	Keratoconus	HP:0000563
6102	RP2	Glaucoma	HP:0000501
6102	RP2	Progressive night blindness	HP:0007675
6102	RP2	Rod-cone dystrophy	HP:0000510
6102	RP2	Nystagmus	HP:0000639
6103	RPGR	Recurrent Haemophilus influenzae infections	HP:0005376
6103	RPGR	Abnormal electroretinogram	HP:0000512
6103	RPGR	Blue cone monochromacy	HP:0007939
6103	RPGR	Otitis media	HP:0000388
6103	RPGR	Cataract	HP:0000518
6103	RPGR	Hypogonadism	HP:0000135
6103	RPGR	Optic atrophy	HP:0000648
6103	RPGR	X-linked inheritance	HP:0001417
6103	RPGR	X-linked recessive inheritance	HP:0001419
6103	RPGR	Pendular nystagmus	HP:0012043
6103	RPGR	Atelectasis	HP:0100750
6103	RPGR	Abnormality of metabolism/homeostasis	HP:0001939
6103	RPGR	Recurrent bronchitis	HP:0002837
6103	RPGR	Conductive hearing impairment	HP:0000405
6103	RPGR	Nyctalopia	HP:0000662
6103	RPGR	Abnormality of retinal pigmentation	HP:0007703
6103	RPGR	Sensorineural hearing impairment	HP:0000407
6103	RPGR	Hypermetropia	HP:0000540
6103	RPGR	Recurrent respiratory infections	HP:0002205
6103	RPGR	Hypoplasia of penis	HP:0008736
6103	RPGR	Myopia	HP:0000545
6103	RPGR	Abnormal testis morphology	HP:0000035
6103	RPGR	Attenuation of retinal blood vessels	HP:0007843
6103	RPGR	Cone/cone-rod dystrophy	HP:0000548
6103	RPGR	Color vision defect	HP:0000551
6103	RPGR	Retinal pigment epithelial atrophy	HP:0007722
6103	RPGR	Congenital stationary cone dysfunction	HP:0030637
6103	RPGR	Wide nasal bridge	HP:0000431
6103	RPGR	Keratoconus	HP:0000563
6103	RPGR	Exotropia	HP:0000577
6103	RPGR	Hyperreflexia	HP:0001347
6103	RPGR	Hypoplasia of the fovea	HP:0007750
6103	RPGR	Hyperinsulinemia	HP:0000842
6103	RPGR	Anteverted nares	HP:0000463
6103	RPGR	Dyschromatopsia	HP:0007641
6103	RPGR	Ophthalmoplegia	HP:0000602
6103	RPGR	Type II diabetes mellitus	HP:0005978
6103	RPGR	Atypical scarring of skin	HP:0000987
6103	RPGR	Central scotoma	HP:0000603
6103	RPGR	Macular degeneration	HP:0000608
6103	RPGR	Intellectual disability	HP:0001249
6103	RPGR	Chronic sinusitis	HP:0011109
6103	RPGR	Photophobia	HP:0000613
6103	RPGR	Obesity	HP:0001513
6103	RPGR	Blindness	HP:0000618
6103	RPGR	High-frequency hearing impairment	HP:0005101
6103	RPGR	Abnormal retinal vascular morphology	HP:0008046
6103	RPGR	Reduced visual acuity	HP:0007663
6103	RPGR	Granular macular appearance	HP:0007793
6103	RPGR	Glaucoma	HP:0000501
6103	RPGR	Visual impairment	HP:0000505
6103	RPGR	Progressive night blindness	HP:0007675
6103	RPGR	Macular scar	HP:0200056
6103	RPGR	Rod-cone dystrophy	HP:0000510
6103	RPGR	Nystagmus	HP:0000639
153562	MARVELD2	Autosomal recessive inheritance	HP:0000007
153562	MARVELD2	Prelingual sensorineural hearing impairment	HP:0000399
128989	TANGO2	Prolonged QTc interval	HP:0005184
128989	TANGO2	Torsade de pointes	HP:0001664
128989	TANGO2	Absent speech	HP:0001344
128989	TANGO2	Poor coordination	HP:0002370
128989	TANGO2	Hyperammonemia	HP:0001987
128989	TANGO2	Drooling	HP:0002307
128989	TANGO2	Neurodegeneration	HP:0002180
128989	TANGO2	Autosomal recessive inheritance	HP:0000007
128989	TANGO2	Optic atrophy	HP:0000648
128989	TANGO2	Gait disturbance	HP:0001288
128989	TANGO2	Generalized hypotonia	HP:0001290
128989	TANGO2	Myopathic facies	HP:0002058
128989	TANGO2	Premature thelarche	HP:0010314
128989	TANGO2	Oral-pharyngeal dysphagia	HP:0200136
128989	TANGO2	Cerebral atrophy	HP:0002059
128989	TANGO2	Spastic tetraplegia	HP:0002510
128989	TANGO2	Hyperactive deep tendon reflexes	HP:0006801
128989	TANGO2	Gait ataxia	HP:0002066
128989	TANGO2	Ventricular tachycardia	HP:0004756
128989	TANGO2	Metabolic acidosis	HP:0001942
128989	TANGO2	Sensorineural hearing impairment	HP:0000407
128989	TANGO2	Hypoglycemia	HP:0001943
128989	TANGO2	Elevated hepatic transaminase	HP:0002910
128989	TANGO2	Cardiac arrest	HP:0001695
128989	TANGO2	Myoglobinuria	HP:0002913
128989	TANGO2	Intellectual disability	HP:0001249
128989	TANGO2	Seizures	HP:0001250
128989	TANGO2	Ataxia	HP:0001251
128989	TANGO2	Elevated serum creatine kinase	HP:0003236
128989	TANGO2	Increased serum lactate	HP:0002151
128989	TANGO2	Ketonuria	HP:0002919
128989	TANGO2	Hypertrophic cardiomyopathy	HP:0001639
128989	TANGO2	Muscle weakness	HP:0001324
128989	TANGO2	Dysarthria	HP:0001260
128989	TANGO2	Acute rhabdomyolysis	HP:0008942
128989	TANGO2	Global developmental delay	HP:0001263
128989	TANGO2	Spastic diplegia	HP:0001264
128989	TANGO2	Dystonia	HP:0001332
128989	TANGO2	Hypothyroidism	HP:0000821
128989	TANGO2	Elevated plasma acylcarnitine levels	HP:0045045
128989	TANGO2	Lactic acidosis	HP:0003128
128989	TANGO2	Clonus	HP:0002169
128989	TANGO2	Premature pubarche	HP:0012411
128989	TANGO2	Microcephaly	HP:0000252
128989	TANGO2	Ventricular fibrillation	HP:0001663
79840	NHEJ1	Bird-like facies	HP:0000320
79840	NHEJ1	B lymphocytopenia	HP:0010976
79840	NHEJ1	Immunodeficiency	HP:0002721
79840	NHEJ1	Growth delay	HP:0001510
79840	NHEJ1	Recurrent viral infections	HP:0004429
79840	NHEJ1	Anemia	HP:0001903
79840	NHEJ1	Autoimmunity	HP:0002960
79840	NHEJ1	Thrombocytopenia	HP:0001873
79840	NHEJ1	Sloping forehead	HP:0000340
79840	NHEJ1	Decreased antibody level in blood	HP:0004313
79840	NHEJ1	Decrease in T cell count	HP:0005403
79840	NHEJ1	Microcephaly	HP:0000252
79840	NHEJ1	Convex nasal ridge	HP:0000444
79840	NHEJ1	Recurrent bacterial infections	HP:0002718
79840	NHEJ1	Bulbous nose	HP:0000414
79848	CSPP1	Multicystic kidney dysplasia	HP:0000003
79848	CSPP1	Cataract	HP:0000518
79848	CSPP1	Autosomal recessive inheritance	HP:0000007
79848	CSPP1	Gait disturbance	HP:0001288
79848	CSPP1	Generalized hypotonia	HP:0001290
79848	CSPP1	Twelfth rib hypoplasia	HP:0006668
79848	CSPP1	Anophthalmia	HP:0000528
79848	CSPP1	Anencephaly	HP:0002323
79848	CSPP1	Abnormal chorioretinal morphology	HP:0000532
79848	CSPP1	Long face	HP:0000276
79848	CSPP1	Small cervical vertebral bodies	HP:0004629
79848	CSPP1	Dandy-Walker malformation	HP:0001305
79848	CSPP1	Oligohydramnios	HP:0001562
79848	CSPP1	Cryptorchidism	HP:0000028
79848	CSPP1	Abnormality of the 5th metacarpal	HP:0010013
79848	CSPP1	Epicanthus	HP:0000286
79848	CSPP1	Hypoplasia of the corpus callosum	HP:0002079
79848	CSPP1	Myopia	HP:0000545
79848	CSPP1	Renal cortical cysts	HP:0000803
79848	CSPP1	Encephalocele	HP:0002084
79848	CSPP1	Male pseudohermaphroditism	HP:0000037
79848	CSPP1	Full cheeks	HP:0000293
79848	CSPP1	Occipital encephalocele	HP:0002085
79848	CSPP1	Foot polydactyly	HP:0001829
79848	CSPP1	Postaxial foot polydactyly	HP:0001830
79848	CSPP1	Cerebellar vermis hypoplasia	HP:0001320
79848	CSPP1	Subretinal deposits	HP:0031528
79848	CSPP1	Pulmonary hypoplasia	HP:0002089
79848	CSPP1	Cerebellar hypoplasia	HP:0001321
79848	CSPP1	Retinal dystrophy	HP:0000556
79848	CSPP1	Dilation of lateral ventricles	HP:0006956
79848	CSPP1	Dyspnea	HP:0002094
79848	CSPP1	Hypospadias	HP:0000047
79848	CSPP1	Cystic liver disease	HP:0006706
79848	CSPP1	Absent septum pellucidum	HP:0001331
79848	CSPP1	Congenital hepatic fibrosis	HP:0002612
79848	CSPP1	Recurrent aspiration pneumonia	HP:0002100
79848	CSPP1	Aplasia/Hypoplasia of the tongue	HP:0010295
79848	CSPP1	Bell-shaped thorax	HP:0001591
79848	CSPP1	Microphthalmia	HP:0000568
79848	CSPP1	Apnea	HP:0002104
79848	CSPP1	Tremor	HP:0001337
79848	CSPP1	Hypertelorism	HP:0000316
79848	CSPP1	Episodic tachypnea	HP:0002876
79848	CSPP1	Visual loss	HP:0000572
79848	CSPP1	Hypoplasia of the brainstem	HP:0002365
79848	CSPP1	Absent speech	HP:0001344
79848	CSPP1	Urethral atresia	HP:0000068
79848	CSPP1	Biparietal narrowing	HP:0004422
79848	CSPP1	Ureteral duplication	HP:0000073
79848	CSPP1	Rhizomelic leg shortening	HP:0012106
79848	CSPP1	Polymicrogyria	HP:0002126
79848	CSPP1	Proximal femoral metaphyseal irregularity	HP:0003411
79848	CSPP1	Cone-shaped epiphysis	HP:0010579
79848	CSPP1	Renal insufficiency	HP:0000083
79848	CSPP1	Sloping forehead	HP:0000340
79848	CSPP1	Abnormality of the basal ganglia	HP:0002134
79848	CSPP1	Bowing of the long bones	HP:0006487
79848	CSPP1	Scoliosis	HP:0002650
79848	CSPP1	Micrognathia	HP:0000347
79848	CSPP1	Talipes	HP:0001883
79848	CSPP1	Open operculum	HP:0100954
79848	CSPP1	Early ossification of capital femoral epiphyses	HP:0008797
79848	CSPP1	Elevated hepatic transaminase	HP:0002910
79848	CSPP1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
79848	CSPP1	Colpocephaly	HP:0030048
79848	CSPP1	Abnormality of the acetabulum	HP:0003170
79848	CSPP1	Iris coloboma	HP:0000612
79848	CSPP1	Redundant neck skin	HP:0005989
79848	CSPP1	Renal cyst	HP:0000107
79848	CSPP1	Renal dysplasia	HP:0000110
79848	CSPP1	Hyperechogenic kidneys	HP:0004719
79848	CSPP1	Low-set, posteriorly rotated ears	HP:0000368
79848	CSPP1	Low-set ears	HP:0000369
79848	CSPP1	Molar tooth sign on MRI	HP:0002419
79848	CSPP1	Aplasia/Hypoplasia of the iris	HP:0008053
79848	CSPP1	Long clavicles	HP:0000890
79848	CSPP1	Posterior fossa cyst	HP:0007291
79848	CSPP1	Pancreatic fibrosis	HP:0100732
79848	CSPP1	Nystagmus	HP:0000639
79848	CSPP1	Rhizomelic arm shortening	HP:0004991
79848	CSPP1	Chronic lung disease	HP:0006528
79848	CSPP1	Meningocele	HP:0002435
79848	CSPP1	Brachydactyly	HP:0001156
79848	CSPP1	Sclerocornea	HP:0000647
79848	CSPP1	Optic atrophy	HP:0000648
79848	CSPP1	Hand polydactyly	HP:0001161
79848	CSPP1	Thoracic hypoplasia	HP:0005257
79848	CSPP1	Postaxial hand polydactyly	HP:0001162
79848	CSPP1	Overfolded helix	HP:0000396
79848	CSPP1	Oculomotor apraxia	HP:0000657
79848	CSPP1	Dysgenesis of the cerebellar vermis	HP:0002195
79848	CSPP1	Sensorineural hearing impairment	HP:0000407
79848	CSPP1	Preaxial hand polydactyly	HP:0001177
79848	CSPP1	Elongated superior cerebellar peduncle	HP:0011933
79848	CSPP1	Recurrent respiratory infections	HP:0002205
79848	CSPP1	Situs inversus totalis	HP:0001696
79848	CSPP1	Depressed nasal bridge	HP:0005280
79848	CSPP1	Postaxial polydactyly	HP:0100259
79848	CSPP1	Feeding difficulties in infancy	HP:0008872
79848	CSPP1	Prominent nasal bridge	HP:0000426
79848	CSPP1	Dilated third ventricle	HP:0007082
79848	CSPP1	Cleft palate	HP:0000175
79848	CSPP1	Feeding difficulties	HP:0011968
79848	CSPP1	Duane anomaly	HP:0009921
79848	CSPP1	Pancreatic cysts	HP:0001737
79848	CSPP1	Depressed nasal ridge	HP:0000457
79848	CSPP1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
79848	CSPP1	Oral cleft	HP:0000202
79848	CSPP1	Aganglionic megacolon	HP:0002251
79848	CSPP1	Single naris	HP:0009932
79848	CSPP1	Anteverted nares	HP:0000463
79848	CSPP1	Asplenia	HP:0001746
79848	CSPP1	Wide intermamillary distance	HP:0006610
79848	CSPP1	Accessory spleen	HP:0001747
79848	CSPP1	Increased intracranial pressure	HP:0002516
79848	CSPP1	Lobar holoprosencephaly	HP:0006870
79848	CSPP1	Frontal bossing	HP:0002007
79848	CSPP1	True hermaphroditism	HP:0010459
79848	CSPP1	Furrowed tongue	HP:0000221
79848	CSPP1	Intellectual disability	HP:0001249
79848	CSPP1	Microcornea	HP:0000482
79848	CSPP1	Seizures	HP:0001250
79848	CSPP1	Ataxia	HP:0001251
79848	CSPP1	Muscular hypotonia	HP:0001252
79848	CSPP1	Failure to thrive	HP:0001508
79848	CSPP1	Gastroesophageal reflux	HP:0002020
79848	CSPP1	Tachypnea	HP:0002789
79848	CSPP1	Strabismus	HP:0000486
79848	CSPP1	Retinopathy	HP:0000488
79848	CSPP1	Enlarged cisterna magna	HP:0002280
79848	CSPP1	Hydrocephalus	HP:0000238
79848	CSPP1	Global developmental delay	HP:0001263
79848	CSPP1	Abnormal form of the vertebral bodies	HP:0003312
79848	CSPP1	Variable expressivity	HP:0003828
79848	CSPP1	Congenital onset	HP:0003577
79848	CSPP1	Highly arched eyebrow	HP:0002553
79848	CSPP1	Abnormal corpus callosum morphology	HP:0001273
79848	CSPP1	Abnormality of the optic disc	HP:0012795
79848	CSPP1	Microcephaly	HP:0000252
79848	CSPP1	Ptosis	HP:0000508
79848	CSPP1	Cervical spinal canal stenosis	HP:0008445
79848	CSPP1	Supernumerary nipple	HP:0002558
6121	RPE65	Abnormal electroretinogram	HP:0000512
6121	RPE65	Hyperreflexia	HP:0001347
6121	RPE65	Pigmentary retinopathy	HP:0000580
6121	RPE65	Cataract	HP:0000518
6121	RPE65	Hypogonadism	HP:0000135
6121	RPE65	Autosomal recessive inheritance	HP:0000007
6121	RPE65	Optic atrophy	HP:0000648
6121	RPE65	Hyperinsulinemia	HP:0000842
6121	RPE65	Fundus atrophy	HP:0001099
6121	RPE65	Eye poking	HP:0001483
6121	RPE65	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
6121	RPE65	Anteverted nares	HP:0000463
6121	RPE65	Conductive hearing impairment	HP:0000405
6121	RPE65	Hemiplegia/hemiparesis	HP:0004374
6121	RPE65	Nyctalopia	HP:0000662
6121	RPE65	Sensorineural hearing impairment	HP:0000407
6121	RPE65	Abnormality of retinal pigmentation	HP:0007703
6121	RPE65	Ophthalmoplegia	HP:0000602
6121	RPE65	Type II diabetes mellitus	HP:0005978
6121	RPE65	Atypical scarring of skin	HP:0000987
6121	RPE65	Abnormality of neuronal migration	HP:0002269
6121	RPE65	Hypoplasia of penis	HP:0008736
6121	RPE65	Intellectual disability	HP:0001249
6121	RPE65	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
6121	RPE65	Seizures	HP:0001250
6121	RPE65	Abnormal testis morphology	HP:0000035
6121	RPE65	Attenuation of retinal blood vessels	HP:0007843
6121	RPE65	Encephalocele	HP:0002084
6121	RPE65	Muscular hypotonia	HP:0001252
6121	RPE65	Photophobia	HP:0000613
6121	RPE65	Cerebellar vermis hypoplasia	HP:0001320
6121	RPE65	Obesity	HP:0001513
6121	RPE65	Blindness	HP:0000618
6121	RPE65	Hearing impairment	HP:0000365
6121	RPE65	Abnormal retinal vascular morphology	HP:0008046
6121	RPE65	Wide nasal bridge	HP:0000431
6121	RPE65	Global developmental delay	HP:0001263
6121	RPE65	Keratoconus	HP:0000563
6121	RPE65	Glaucoma	HP:0000501
6121	RPE65	Severely reduced visual acuity	HP:0001141
6121	RPE65	Visual impairment	HP:0000505
6121	RPE65	Progressive night blindness	HP:0007675
6121	RPE65	Abnormality of the optic disc	HP:0012795
6121	RPE65	Rod-cone dystrophy	HP:0000510
6121	RPE65	Nystagmus	HP:0000639
284654	RSPO1	Small nail	HP:0001792
284654	RSPO1	Gynecomastia	HP:0000771
284654	RSPO1	Autosomal recessive inheritance	HP:0000007
284654	RSPO1	Hypertriglyceridemia	HP:0002155
284654	RSPO1	Carcinoma	HP:0030731
284654	RSPO1	Hypospadias	HP:0000047
284654	RSPO1	Palmoplantar hyperhidrosis	HP:0007410
284654	RSPO1	Squamous cell carcinoma of the skin	HP:0006739
284654	RSPO1	Nail dystrophy	HP:0008404
284654	RSPO1	Hypercholesterolemia	HP:0003124
284654	RSPO1	Sex reversal	HP:0012245
284654	RSPO1	Premature loss of permanent teeth	HP:0006357
284654	RSPO1	Palmoplantar keratoderma	HP:0000982
284654	RSPO1	Laryngeal carcinoma	HP:0012118
284654	RSPO1	Orthokeratotic hyperkeratosis	HP:0025080
284654	RSPO1	Clitoral hypertrophy	HP:0008665
284654	RSPO1	Ovotestis	HP:0012861
284654	RSPO1	Decreased testicular size	HP:0008734
284654	RSPO1	Sclerodactyly	HP:0011838
55275	VPS53	Irritability	HP:0000737
55275	VPS53	Short stature	HP:0004322
55275	VPS53	Seizures	HP:0001250
55275	VPS53	Opisthotonus	HP:0002179
55275	VPS53	Neonatal hypotonia	HP:0001319
55275	VPS53	Autosomal recessive inheritance	HP:0000007
55275	VPS53	Infantile onset	HP:0003593
55275	VPS53	Cerebral atrophy	HP:0002059
55275	VPS53	Osteoporosis	HP:0000939
55275	VPS53	Intellectual disability, profound	HP:0002187
55275	VPS53	Spastic tetraplegia	HP:0002510
55275	VPS53	Global developmental delay	HP:0001263
55275	VPS53	Cerebellar atrophy	HP:0001272
55275	VPS53	Scoliosis	HP:0002650
55275	VPS53	Flexion contracture	HP:0001371
55275	VPS53	Progressive	HP:0003676
55275	VPS53	Progressive microcephaly	HP:0000253
55275	VPS53	Hypoplasia of the corpus callosum	HP:0002079
6125	RPL5	Persistence of hemoglobin F	HP:0011904
6125	RPL5	Bifid uvula	HP:0000193
6125	RPL5	Abnormality of the hand	HP:0001155
6125	RPL5	Autosomal dominant inheritance	HP:0000006
6125	RPL5	Depressed nasal ridge	HP:0000457
6125	RPL5	Cleft upper lip	HP:0000204
6125	RPL5	Abnormality of the genital system	HP:0000078
6125	RPL5	Increased mean corpuscular volume	HP:0005518
6125	RPL5	Abnormality of the urinary system	HP:0000079
6125	RPL5	Pallor	HP:0000980
6125	RPL5	Retrognathia	HP:0000278
6125	RPL5	Fatigue	HP:0012378
6125	RPL5	Arrhythmia	HP:0011675
6125	RPL5	Micrognathia	HP:0000347
6125	RPL5	Tracheomalacia	HP:0002779
6125	RPL5	Migraine	HP:0002076
6125	RPL5	Ventricular septal defect	HP:0001629
6125	RPL5	Atrial septal defect	HP:0001631
6125	RPL5	Short stature	HP:0004322
6125	RPL5	Mitral valve prolapse	HP:0001634
6125	RPL5	Failure to thrive	HP:0001508
6125	RPL5	Tetralogy of Fallot	HP:0001636
6125	RPL5	Growth delay	HP:0001510
6125	RPL5	Patent ductus arteriosus	HP:0001643
6125	RPL5	Cleft palate	HP:0000175
6125	RPL5	Triphalangeal thumb	HP:0001199
6125	RPL5	Ventricular hypertrophy	HP:0001714
6125	RPL5	Short thumb	HP:0009778
6125	RPL5	Thick lower lip vermilion	HP:0000179
6125	RPL5	Macrocytic anemia	HP:0001972
6125	RPL5	Mitral regurgitation	HP:0001653
6125	RPL5	Delayed puberty	HP:0000823
6125	RPL5	Acute leukemia	HP:0002488
6125	RPL5	Short nose	HP:0003196
6125	RPL5	Hypertelorism	HP:0000316
55280	CWF19L1	Mild microcephaly	HP:0040196
55280	CWF19L1	Slurred speech	HP:0001350
55280	CWF19L1	Autosomal recessive inheritance	HP:0000007
55280	CWF19L1	Clumsiness	HP:0002312
55280	CWF19L1	Infantile onset	HP:0003593
55280	CWF19L1	Generalized hypotonia	HP:0001290
55280	CWF19L1	Monotonic speech	HP:0031435
55280	CWF19L1	Unsteady gait	HP:0002317
55280	CWF19L1	Oculomotor apraxia	HP:0000657
55280	CWF19L1	Abnormality of the distal phalanx of the thumb	HP:0009617
55280	CWF19L1	Gait ataxia	HP:0002066
55280	CWF19L1	Synophrys	HP:0000664
55280	CWF19L1	Horizontal nystagmus	HP:0000666
55280	CWF19L1	Slow progression	HP:0003677
55280	CWF19L1	Dysmetria	HP:0001310
55280	CWF19L1	Truncal ataxia	HP:0002078
55280	CWF19L1	Babinski sign	HP:0003487
55280	CWF19L1	Intention tremor	HP:0002080
55280	CWF19L1	Nonprogressive	HP:0003680
55280	CWF19L1	Intellectual disability	HP:0001249
55280	CWF19L1	Intellectual disability, moderate	HP:0002342
55280	CWF19L1	Nonprogressive cerebellar ataxia	HP:0002470
55280	CWF19L1	Cerebellar vermis hypoplasia	HP:0001320
55280	CWF19L1	Cerebellar hypoplasia	HP:0001321
55280	CWF19L1	Dysarthria	HP:0001260
55280	CWF19L1	Delayed speech and language development	HP:0000750
55280	CWF19L1	Global developmental delay	HP:0001263
55280	CWF19L1	Infantile muscular hypotonia	HP:0008947
55280	CWF19L1	Dystonia	HP:0001332
55280	CWF19L1	Frequent falls	HP:0002359
55280	CWF19L1	Tremor	HP:0001337
55280	CWF19L1	Agenesis of corpus callosum	HP:0001274
6134	RPL10	Sacral lipoma	HP:0012033
6134	RPL10	Laryngomalacia	HP:0001601
6134	RPL10	Ankle contracture	HP:0006466
6134	RPL10	Clinodactyly	HP:0030084
6134	RPL10	Brachydactyly	HP:0001156
6134	RPL10	Branchial cyst	HP:0009796
6134	RPL10	Abnormal facial shape	HP:0001999
6134	RPL10	Severe postnatal growth retardation	HP:0008850
6134	RPL10	Finger syndactyly	HP:0006101
6134	RPL10	Long philtrum	HP:0000343
6134	RPL10	Sensorineural hearing impairment	HP:0000407
6134	RPL10	Scoliosis	HP:0002650
6134	RPL10	Thin upper lip vermilion	HP:0000219
6134	RPL10	Protruding ear	HP:0000411
6134	RPL10	Cryptorchidism	HP:0000028
6134	RPL10	Decreased testicular size	HP:0008734
6134	RPL10	Tapered finger	HP:0001182
6134	RPL10	Epicanthus	HP:0000286
6134	RPL10	Spondyloepiphyseal dysplasia	HP:0002655
6134	RPL10	Recurrent infections	HP:0002719
6134	RPL10	Narrow mouth	HP:0000160
6134	RPL10	Intellectual disability	HP:0001249
6134	RPL10	Camptodactyly	HP:0012385
6134	RPL10	Myopia	HP:0000545
6134	RPL10	Seizures	HP:0001250
6134	RPL10	Ataxia	HP:0001251
6134	RPL10	Muscular hypotonia	HP:0001252
6134	RPL10	Gastroesophageal reflux	HP:0002020
6134	RPL10	Dental crowding	HP:0000678
6134	RPL10	Intrauterine growth retardation	HP:0001511
6134	RPL10	Cerebellar hypoplasia	HP:0001321
6134	RPL10	Knee flexion contracture	HP:0006380
6134	RPL10	Hearing impairment	HP:0000365
6134	RPL10	Self-injurious behavior	HP:0100716
6134	RPL10	Delayed speech and language development	HP:0000750
6134	RPL10	Hypospadias	HP:0000047
6134	RPL10	Global developmental delay	HP:0001263
6134	RPL10	Mandibular prognathia	HP:0000303
6134	RPL10	Microretrognathia	HP:0000308
6134	RPL10	Single transverse palmar crease	HP:0000954
6134	RPL10	Microcephaly	HP:0000252
6134	RPL10	Smooth philtrum	HP:0000319
6134	RPL10	Pulmonary artery stenosis	HP:0004415
6135	RPL11	Abnormality of the hand	HP:0001155
6135	RPL11	Choanal atresia	HP:0000453
6135	RPL11	Autosomal dominant inheritance	HP:0000006
6135	RPL11	Depressed nasal ridge	HP:0000457
6135	RPL11	Vesicoureteral reflux	HP:0000076
6135	RPL11	Abnormality of the genital system	HP:0000078
6135	RPL11	Increased mean corpuscular volume	HP:0005518
6135	RPL11	Abnormality of the urinary system	HP:0000079
6135	RPL11	Sprengel anomaly	HP:0000912
6135	RPL11	Recurrent otitis media	HP:0000403
6135	RPL11	Neutropenia	HP:0001875
6135	RPL11	Pallor	HP:0000980
6135	RPL11	Secundum atrial septal defect	HP:0001684
6135	RPL11	Horseshoe kidney	HP:0000085
6135	RPL11	Esophagitis	HP:0100633
6135	RPL11	Polyhydramnios	HP:0001561
6135	RPL11	Fatigue	HP:0012378
6135	RPL11	Scoliosis	HP:0002650
6135	RPL11	Arrhythmia	HP:0011675
6135	RPL11	Migraine	HP:0002076
6135	RPL11	Fetal distress	HP:0025116
6135	RPL11	Ventricular septal defect	HP:0001629
6135	RPL11	Atresia of the external auditory canal	HP:0000413
6135	RPL11	Vitamin D deficiency	HP:0100512
6135	RPL11	Short stature	HP:0004322
6135	RPL11	Tetralogy of Fallot	HP:0001636
6135	RPL11	Intrauterine growth retardation	HP:0001511
6135	RPL11	Osteopenia	HP:0000938
6135	RPL11	Osteoporosis	HP:0000939
6135	RPL11	Patent ductus arteriosus	HP:0001643
6135	RPL11	Hearing impairment	HP:0000365
6135	RPL11	Cleft palate	HP:0000175
6135	RPL11	Triphalangeal thumb	HP:0001199
6135	RPL11	Short thumb	HP:0009778
6135	RPL11	Thick lower lip vermilion	HP:0000179
6135	RPL11	Macrocytic anemia	HP:0001972
6135	RPL11	Delayed puberty	HP:0000823
6135	RPL11	Small hypothenar eminence	HP:0010487
6135	RPL11	Acute leukemia	HP:0002488
6135	RPL11	Short nose	HP:0003196
79867	TCTN2	Multicystic kidney dysplasia	HP:0000003
79867	TCTN2	Cataract	HP:0000518
79867	TCTN2	Sclerocornea	HP:0000647
79867	TCTN2	Autosomal recessive inheritance	HP:0000007
79867	TCTN2	Optic atrophy	HP:0000648
79867	TCTN2	Gait disturbance	HP:0001288
79867	TCTN2	Infantile onset	HP:0003593
79867	TCTN2	Hand polydactyly	HP:0001161
79867	TCTN2	Postaxial hand polydactyly	HP:0001162
79867	TCTN2	Generalized hypotonia	HP:0001290
79867	TCTN2	Anophthalmia	HP:0000528
79867	TCTN2	Oculomotor apraxia	HP:0000657
79867	TCTN2	Anencephaly	HP:0002323
79867	TCTN2	Abnormal chorioretinal morphology	HP:0000532
79867	TCTN2	Long face	HP:0000276
79867	TCTN2	Pachygyria	HP:0001302
79867	TCTN2	Dandy-Walker malformation	HP:0001305
79867	TCTN2	Preaxial hand polydactyly	HP:0001177
79867	TCTN2	Oligohydramnios	HP:0001562
79867	TCTN2	Cryptorchidism	HP:0000028
79867	TCTN2	Hypermetropia	HP:0000540
79867	TCTN2	Dysmetria	HP:0001310
79867	TCTN2	Situs inversus totalis	HP:0001696
79867	TCTN2	Encephalocele	HP:0002084
79867	TCTN2	Male pseudohermaphroditism	HP:0000037
79867	TCTN2	Full cheeks	HP:0000293
79867	TCTN2	Foot polydactyly	HP:0001829
79867	TCTN2	Postaxial foot polydactyly	HP:0001830
79867	TCTN2	Cerebellar vermis hypoplasia	HP:0001320
79867	TCTN2	Feeding difficulties in infancy	HP:0008872
79867	TCTN2	Cerebellar hypoplasia	HP:0001321
79867	TCTN2	Prominent nasal bridge	HP:0000426
79867	TCTN2	Cleft palate	HP:0000175
79867	TCTN2	Cystic liver disease	HP:0006706
79867	TCTN2	Congenital hepatic fibrosis	HP:0002612
79867	TCTN2	Aplasia/Hypoplasia of the tongue	HP:0010295
79867	TCTN2	Microphthalmia	HP:0000568
79867	TCTN2	Apnea	HP:0002104
79867	TCTN2	Tremor	HP:0001337
79867	TCTN2	Hypertelorism	HP:0000316
79867	TCTN2	Episodic tachypnea	HP:0002876
79867	TCTN2	Absent speech	HP:0001344
79867	TCTN2	Hyperreflexia	HP:0001347
79867	TCTN2	Urethral atresia	HP:0000068
79867	TCTN2	Biparietal narrowing	HP:0004422
79867	TCTN2	Abdominal distention	HP:0003270
79867	TCTN2	Ureteral duplication	HP:0000073
79867	TCTN2	Pancreatic cysts	HP:0001737
79867	TCTN2	Depressed nasal ridge	HP:0000457
79867	TCTN2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
79867	TCTN2	Oral cleft	HP:0000202
79867	TCTN2	Aganglionic megacolon	HP:0002251
79867	TCTN2	Cleft upper lip	HP:0000204
79867	TCTN2	Polymicrogyria	HP:0002126
79867	TCTN2	Anteverted nares	HP:0000463
79867	TCTN2	Broad forehead	HP:0000337
79867	TCTN2	Asplenia	HP:0001746
79867	TCTN2	Accessory spleen	HP:0001747
79867	TCTN2	Sloping forehead	HP:0000340
79867	TCTN2	Lobar holoprosencephaly	HP:0006870
79867	TCTN2	Short neck	HP:0000470
79867	TCTN2	Bowing of the long bones	HP:0006487
79867	TCTN2	Scoliosis	HP:0002650
79867	TCTN2	Micrognathia	HP:0000347
79867	TCTN2	Talipes	HP:0001883
79867	TCTN2	True hermaphroditism	HP:0010459
79867	TCTN2	Furrowed tongue	HP:0000221
79867	TCTN2	Abnormality of the hypothalamus-pituitary axis	HP:0000864
79867	TCTN2	Intellectual disability	HP:0001249
79867	TCTN2	Microcornea	HP:0000482
79867	TCTN2	Talipes equinovarus	HP:0001762
79867	TCTN2	Seizures	HP:0001250
79867	TCTN2	Ataxia	HP:0001251
79867	TCTN2	Iris coloboma	HP:0000612
79867	TCTN2	Muscular hypotonia	HP:0001252
79867	TCTN2	Strabismus	HP:0000486
79867	TCTN2	Spasticity	HP:0001257
79867	TCTN2	Hydrocephalus	HP:0000238
79867	TCTN2	Global developmental delay	HP:0001263
79867	TCTN2	Hyperechogenic kidneys	HP:0004719
79867	TCTN2	Low-set, posteriorly rotated ears	HP:0000368
79867	TCTN2	Abnormal form of the vertebral bodies	HP:0003312
79867	TCTN2	Low-set ears	HP:0000369
79867	TCTN2	Aplasia/Hypoplasia of the iris	HP:0008053
79867	TCTN2	Highly arched eyebrow	HP:0002553
79867	TCTN2	Microcephaly	HP:0000252
79867	TCTN2	Ptosis	HP:0000508
79867	TCTN2	Short nose	HP:0003196
79867	TCTN2	Pancreatic fibrosis	HP:0100732
79867	TCTN2	Nystagmus	HP:0000639
6138	RPL15	Short stature	HP:0004322
6138	RPL15	Abnormality of the hand	HP:0001155
6138	RPL15	Autosomal dominant inheritance	HP:0000006
6138	RPL15	Normochromic anemia	HP:0001895
6138	RPL15	Reticulocytopenia	HP:0001896
6138	RPL15	Depressed nasal ridge	HP:0000457
6138	RPL15	Abnormality of the genital system	HP:0000078
6138	RPL15	Cleft palate	HP:0000175
6138	RPL15	Abnormality of the urinary system	HP:0000079
6138	RPL15	Triphalangeal thumb	HP:0001199
6138	RPL15	Thick lower lip vermilion	HP:0000179
6138	RPL15	Pallor	HP:0000980
6138	RPL15	Macrocytic anemia	HP:0001972
6138	RPL15	Delayed puberty	HP:0000823
6138	RPL15	Acute leukemia	HP:0002488
6138	RPL15	Fatigue	HP:0012378
6138	RPL15	Arrhythmia	HP:0011675
6138	RPL15	Migraine	HP:0002076
6138	RPL15	Short nose	HP:0003196
6138	RPL15	Ventricular septal defect	HP:0001629
6138	RPL15	Elevated red cell adenosine deaminase activity	HP:0030270
79868	ALG13	Hepatomegaly	HP:0002240
79868	ALG13	Clumsiness	HP:0002312
79868	ALG13	Optic atrophy	HP:0000648
79868	ALG13	Infantile onset	HP:0003593
79868	ALG13	Generalized hypotonia	HP:0001290
79868	ALG13	Short chin	HP:0000331
79868	ALG13	X-linked recessive inheritance	HP:0001419
79868	ALG13	Cerebral atrophy	HP:0002059
79868	ALG13	Autism	HP:0000717
79868	ALG13	Anteverted nares	HP:0000463
79868	ALG13	X-linked dominant inheritance	HP:0001423
79868	ALG13	Abnormal facial shape	HP:0001999
79868	ALG13	Long philtrum	HP:0000343
79868	ALG13	Abnormality of extrapyramidal motor function	HP:0002071
79868	ALG13	Abnormal pyramidal sign	HP:0007256
79868	ALG13	Hypsarrhythmia	HP:0002521
79868	ALG13	Horizontal nystagmus	HP:0000666
79868	ALG13	Flexion contracture	HP:0001371
79868	ALG13	Adducted thumb	HP:0001181
79868	ALG13	Abnormality of lateral ventricle	HP:0030047
79868	ALG13	Recurrent infections	HP:0002719
79868	ALG13	Delayed myelination	HP:0012448
79868	ALG13	Intellectual disability	HP:0001249
79868	ALG13	Seizures	HP:0001250
79868	ALG13	Decreased body weight	HP:0004325
79868	ALG13	Global brain atrophy	HP:0002283
79868	ALG13	Delayed speech and language development	HP:0000750
79868	ALG13	Hydrocephalus	HP:0000238
79868	ALG13	Global developmental delay	HP:0001263
79868	ALG13	Intellectual disability, severe	HP:0010864
79868	ALG13	Poor eye contact	HP:0000817
79868	ALG13	Low-set ears	HP:0000369
79868	ALG13	Infantile spasms	HP:0012469
79868	ALG13	Poor head control	HP:0002421
79868	ALG13	Type I transferrin isoform profile	HP:0003642
79868	ALG13	Hypertelorism	HP:0000316
79868	ALG13	Microcephaly	HP:0000252
79868	ALG13	Cognitive impairment	HP:0100543
79868	ALG13	Nystagmus	HP:0000639
6141	RPL18	Short stature	HP:0004322
6141	RPL18	Abnormality of the hand	HP:0001155
6141	RPL18	Depressed nasal ridge	HP:0000457
6141	RPL18	Abnormality of the genital system	HP:0000078
6141	RPL18	Cleft palate	HP:0000175
6141	RPL18	Abnormality of the urinary system	HP:0000079
6141	RPL18	Thick lower lip vermilion	HP:0000179
6141	RPL18	Pallor	HP:0000980
6141	RPL18	Macrocytic anemia	HP:0001972
6141	RPL18	Delayed puberty	HP:0000823
6141	RPL18	Acute leukemia	HP:0002488
6141	RPL18	Granulocytopenia	HP:0001913
6141	RPL18	Fatigue	HP:0012378
6141	RPL18	Arrhythmia	HP:0011675
6141	RPL18	Migraine	HP:0002076
6141	RPL18	Short nose	HP:0003196
6144	RPL21	Sparse or absent eyelashes	HP:0200102
6144	RPL21	Autosomal dominant inheritance	HP:0000006
6144	RPL21	Sparse and thin eyebrow	HP:0000535
6144	RPL21	Sparse body hair	HP:0002231
6144	RPL21	Aplasia/Hypoplasia of the eyebrow	HP:0100840
6144	RPL21	Slow-growing hair	HP:0002217
6144	RPL21	Alopecia	HP:0001596
6144	RPL21	Sparse eyelashes	HP:0000653
6144	RPL21	Hypotrichosis of the scalp	HP:0004782
6144	RPL21	Hypotrichosis	HP:0001006
6144	RPL21	Dry hair	HP:0011359
79876	UBA5	Athetosis	HP:0002305
79876	UBA5	Cataract	HP:0000518
79876	UBA5	Autosomal recessive inheritance	HP:0000007
79876	UBA5	Optic atrophy	HP:0000648
79876	UBA5	Generalized hypotonia	HP:0001290
79876	UBA5	Cerebral atrophy	HP:0002059
79876	UBA5	Unsteady gait	HP:0002317
79876	UBA5	Rigidity	HP:0002063
79876	UBA5	Spastic gait	HP:0002064
79876	UBA5	Encephalopathy	HP:0001298
79876	UBA5	Gait ataxia	HP:0002066
79876	UBA5	Decreased fetal movement	HP:0001558
79876	UBA5	Limb ataxia	HP:0002070
79876	UBA5	Hypodontia	HP:0000668
79876	UBA5	Abnormal myelination	HP:0012447
79876	UBA5	Hypoplasia of the corpus callosum	HP:0002079
79876	UBA5	Delayed myelination	HP:0012448
79876	UBA5	Retinal degeneration	HP:0000546
79876	UBA5	Mask-like facies	HP:0000298
79876	UBA5	Poor eye contact	HP:0000817
79876	UBA5	Difficulty walking	HP:0002355
79876	UBA5	Dystonia	HP:0001332
79876	UBA5	Dyskinesia	HP:0100660
79876	UBA5	Myoclonus	HP:0001336
79876	UBA5	Tremor	HP:0001337
79876	UBA5	Feeding difficulties	HP:0011968
79876	UBA5	Absent speech	HP:0001344
79876	UBA5	Developmental regression	HP:0002376
79876	UBA5	Limb hypertonia	HP:0002509
79876	UBA5	Autism	HP:0000717
79876	UBA5	Status epilepticus	HP:0002133
79876	UBA5	Hypsarrhythmia	HP:0002521
79876	UBA5	High forehead	HP:0000348
79876	UBA5	EEG with multifocal slow activity	HP:0010844
79876	UBA5	Progressive	HP:0003676
79876	UBA5	Intellectual disability	HP:0001249
79876	UBA5	Irritability	HP:0000737
79876	UBA5	Short stature	HP:0004322
79876	UBA5	Seizures	HP:0001250
79876	UBA5	Ataxia	HP:0001251
79876	UBA5	Gastroesophageal reflux	HP:0002020
79876	UBA5	Failure to thrive	HP:0001508
79876	UBA5	Impulsivity	HP:0100710
79876	UBA5	Spasticity	HP:0001257
79876	UBA5	Attention deficit hyperactivity disorder	HP:0007018
79876	UBA5	Postnatal microcephaly	HP:0005484
79876	UBA5	Dysarthria	HP:0001260
79876	UBA5	Downslanted palpebral fissures	HP:0000494
79876	UBA5	Delayed speech and language development	HP:0000750
79876	UBA5	Global developmental delay	HP:0001263
79876	UBA5	Intellectual disability, severe	HP:0010864
79876	UBA5	Hyporeflexia	HP:0001265
79876	UBA5	Mental deterioration	HP:0001268
79876	UBA5	Poor head control	HP:0002421
79876	UBA5	Abnormality of vision	HP:0000504
79876	UBA5	Cerebellar atrophy	HP:0001272
79876	UBA5	Abnormal corpus callosum morphology	HP:0001273
79876	UBA5	Microcephaly	HP:0000252
79876	UBA5	Ptosis	HP:0000508
79876	UBA5	Nystagmus	HP:0000639
6154	RPL26	Abnormality of the hand	HP:0001155
6154	RPL26	Autosomal dominant inheritance	HP:0000006
6154	RPL26	Depressed nasal ridge	HP:0000457
6154	RPL26	Hypoplasia of the ulna	HP:0003022
6154	RPL26	Abnormality of the genital system	HP:0000078
6154	RPL26	Abnormality of the urinary system	HP:0000079
6154	RPL26	Stenosis of the external auditory canal	HP:0000402
6154	RPL26	Neutropenia	HP:0001875
6154	RPL26	Pallor	HP:0000980
6154	RPL26	Bone marrow hypocellularity	HP:0005528
6154	RPL26	Fatigue	HP:0012378
6154	RPL26	Arrhythmia	HP:0011675
6154	RPL26	Anemia of inadequate production	HP:0010972
6154	RPL26	Migraine	HP:0002076
6154	RPL26	Atresia of the external auditory canal	HP:0000413
6154	RPL26	Radioulnar synostosis	HP:0002974
6154	RPL26	Forearm reduction defects	HP:0006368
6154	RPL26	Short stature	HP:0004322
6154	RPL26	Hypoplasia of the radius	HP:0002984
6154	RPL26	Renal agenesis	HP:0000104
6154	RPL26	Abnormal eyelid morphology	HP:0000492
6154	RPL26	Anemia	HP:0001903
6154	RPL26	Cleft palate	HP:0000175
6154	RPL26	Bicuspid aortic valve	HP:0001647
6154	RPL26	Absent thumb	HP:0009777
6154	RPL26	Thick lower lip vermilion	HP:0000179
6154	RPL26	Macrocytic anemia	HP:0001972
6154	RPL26	Delayed puberty	HP:0000823
6154	RPL26	Acute leukemia	HP:0002488
6154	RPL26	Short nose	HP:0003196
6155	RPL27	Short stature	HP:0004322
6155	RPL27	Abnormality of the hand	HP:0001155
6155	RPL27	Autosomal dominant inheritance	HP:0000006
6155	RPL27	Depressed nasal ridge	HP:0000457
6155	RPL27	Pulmonic stenosis	HP:0001642
6155	RPL27	Abnormality of the genital system	HP:0000078
6155	RPL27	Cleft palate	HP:0000175
6155	RPL27	Abnormality of the urinary system	HP:0000079
6155	RPL27	Anemia	HP:0001903
6155	RPL27	Thick lower lip vermilion	HP:0000179
6155	RPL27	Pallor	HP:0000980
6155	RPL27	Macrocytic anemia	HP:0001972
6155	RPL27	Delayed puberty	HP:0000823
6155	RPL27	Acute leukemia	HP:0002488
6155	RPL27	Fatigue	HP:0012378
6155	RPL27	Arrhythmia	HP:0011675
6155	RPL27	Migraine	HP:0002076
6155	RPL27	Short nose	HP:0003196
6155	RPL27	Atrial septal defect	HP:0001631
79882	ZC3H14	Intellectual disability	HP:0001249
79882	ZC3H14	Autosomal recessive inheritance	HP:0000007
55315	SLC29A3	Macrocephaly	HP:0000256
55315	SLC29A3	Ichthyosis	HP:0008064
55315	SLC29A3	Aplasia/Hypoplasia of the skin	HP:0008065
55315	SLC29A3	Gynecomastia	HP:0000771
55315	SLC29A3	Clinodactyly	HP:0030084
55315	SLC29A3	Autosomal recessive inheritance	HP:0000007
55315	SLC29A3	Hypogonadism	HP:0000135
55315	SLC29A3	Optic atrophy	HP:0000648
55315	SLC29A3	Proptosis	HP:0000520
55315	SLC29A3	Abnormal cranial nerve morphology	HP:0001291
55315	SLC29A3	Craniofacial hyperostosis	HP:0004493
55315	SLC29A3	Amenorrhea	HP:0000141
55315	SLC29A3	Microcytic anemia	HP:0001935
55315	SLC29A3	Abnormal cardiovascular system physiology	HP:0011025
55315	SLC29A3	Abnormal eyebrow morphology	HP:0000534
55315	SLC29A3	Sensorineural hearing impairment	HP:0000407
55315	SLC29A3	Fever	HP:0001945
55315	SLC29A3	Hepatosplenomegaly	HP:0001433
55315	SLC29A3	Azoospermia	HP:0000027
55315	SLC29A3	Lymphadenopathy	HP:0002716
55315	SLC29A3	Platyspondyly	HP:0000926
55315	SLC29A3	Hallux valgus	HP:0001822
55315	SLC29A3	Decreased testicular size	HP:0008734
55315	SLC29A3	Hypoplastic vertebral bodies	HP:0008479
55315	SLC29A3	Pancreatic hypoplasia	HP:0002594
55315	SLC29A3	Recurrent fever	HP:0001954
55315	SLC29A3	Lipodystrophy	HP:0009125
55315	SLC29A3	Full cheeks	HP:0000293
55315	SLC29A3	Recurrent pharyngitis	HP:0100776
55315	SLC29A3	Abnormality of dental enamel	HP:0000682
55315	SLC29A3	Elbow flexion contracture	HP:0002987
55315	SLC29A3	Delayed eruption of teeth	HP:0000684
55315	SLC29A3	Hypergonadotropic hypogonadism	HP:0000815
55315	SLC29A3	Abnormality of the metaphysis	HP:0000944
55315	SLC29A3	Diabetes mellitus	HP:0000819
55315	SLC29A3	Upper eyelid edema	HP:0012724
55315	SLC29A3	Psoriasiform dermatitis	HP:0003765
55315	SLC29A3	Micropenis	HP:0000054
55315	SLC29A3	Episcleritis	HP:0100534
55315	SLC29A3	Hernia	HP:0100790
55315	SLC29A3	Delayed puberty	HP:0000823
55315	SLC29A3	Growth hormone deficiency	HP:0000824
55315	SLC29A3	Hyperpigmentation of the skin	HP:0000953
55315	SLC29A3	Varicose veins	HP:0002619
55315	SLC29A3	Hypertelorism	HP:0000316
55315	SLC29A3	Alopecia	HP:0001596
55315	SLC29A3	Corneal arcus	HP:0001084
55315	SLC29A3	Delayed skeletal maturation	HP:0002750
55315	SLC29A3	Bronchiectasis	HP:0002110
55315	SLC29A3	Rough bone trabeculation	HP:0100670
55315	SLC29A3	Hepatomegaly	HP:0002240
55315	SLC29A3	Hyperreflexia	HP:0001347
55315	SLC29A3	Recurrent fractures	HP:0002757
55315	SLC29A3	Developmental regression	HP:0002376
55315	SLC29A3	Cervical lymphadenopathy	HP:0025289
55315	SLC29A3	Cleft upper lip	HP:0000204
55315	SLC29A3	Retroperitoneal fibrosis	HP:0005200
55315	SLC29A3	Splenomegaly	HP:0001744
55315	SLC29A3	Chronic rhinitis	HP:0002257
55315	SLC29A3	Cerebral calcification	HP:0002514
55315	SLC29A3	Gingival overgrowth	HP:0000212
55315	SLC29A3	Facial telangiectasia	HP:0007380
55315	SLC29A3	Ventricular septal defect	HP:0001629
55315	SLC29A3	Atrial septal defect	HP:0001631
55315	SLC29A3	Intellectual disability	HP:0001249
55315	SLC29A3	Camptodactyly	HP:0012385
55315	SLC29A3	Short stature	HP:0004322
55315	SLC29A3	Mitral valve prolapse	HP:0001634
55315	SLC29A3	Pes planus	HP:0001763
55315	SLC29A3	Irregular vertebral endplates	HP:0003301
55315	SLC29A3	Scleroderma	HP:0100324
55315	SLC29A3	Stiff skin	HP:0030053
55315	SLC29A3	Hypertrichosis	HP:0000998
55315	SLC29A3	Cardiomegaly	HP:0001640
55315	SLC29A3	Malabsorption	HP:0002024
55315	SLC29A3	Intellectual disability, mild	HP:0001256
55315	SLC29A3	Enlarged kidney	HP:0000105
55315	SLC29A3	Hypertriglyceridemia	HP:0002155
55315	SLC29A3	Hearing impairment	HP:0000365
55315	SLC29A3	Osteolysis	HP:0002797
55315	SLC29A3	Hydrocephalus	HP:0000238
55315	SLC29A3	Histiocytosis	HP:0100727
55315	SLC29A3	Increased bone mineral density	HP:0011001
55315	SLC29A3	Nystagmus	HP:0000639
6165	RPL35A	Abnormality of the hand	HP:0001155
6165	RPL35A	Autosomal dominant inheritance	HP:0000006
6165	RPL35A	Infantile onset	HP:0003593
6165	RPL35A	Depressed nasal ridge	HP:0000457
6165	RPL35A	Abnormality of the genital system	HP:0000078
6165	RPL35A	Abnormality of the urinary system	HP:0000079
6165	RPL35A	Pallor	HP:0000980
6165	RPL35A	Leukopenia	HP:0001882
6165	RPL35A	Fatigue	HP:0012378
6165	RPL35A	Arrhythmia	HP:0011675
6165	RPL35A	Migraine	HP:0002076
6165	RPL35A	Ventricular septal defect	HP:0001629
6165	RPL35A	Short stature	HP:0004322
6165	RPL35A	Erythroid hypoplasia	HP:0012133
6165	RPL35A	Reticulocytopenia	HP:0001896
6165	RPL35A	Global developmental delay	HP:0001263
6165	RPL35A	Hypospadias	HP:0000047
6165	RPL35A	Cleft palate	HP:0000175
6165	RPL35A	Low-set ears	HP:0000369
6165	RPL35A	Thick lower lip vermilion	HP:0000179
6165	RPL35A	Macrocytic anemia	HP:0001972
6165	RPL35A	Delayed puberty	HP:0000823
6165	RPL35A	Acute leukemia	HP:0002488
6165	RPL35A	Hypertelorism	HP:0000316
6165	RPL35A	Short nose	HP:0003196
342035	GLDN	Decreased fetal movement	HP:0001558
342035	GLDN	Retrognathia	HP:0000278
342035	GLDN	Autosomal recessive inheritance	HP:0000007
342035	GLDN	Pulmonary hypoplasia	HP:0002089
55325	UFSP2	Irregular acetabular roof	HP:0008833
55325	UFSP2	Osteoarthritis	HP:0002758
55325	UFSP2	Autosomal dominant inheritance	HP:0000006
55325	UFSP2	Childhood onset	HP:0011463
55325	UFSP2	Hip dysplasia	HP:0001385
55325	UFSP2	Flat capital femoral epiphysis	HP:0003370
55325	UFSP2	Arthralgia	HP:0002829
55325	UFSP2	Abnormality of the epiphysis of the femoral head	HP:0010574
55325	UFSP2	Shallow acetabular fossae	HP:0003182
55325	UFSP2	Wide proximal femoral metaphysis	HP:0008783
55325	UFSP2	Avascular necrosis of the capital femoral epiphysis	HP:0005743
55325	UFSP2	Irregular capital femoral epiphysis	HP:0005041
55325	UFSP2	Abnormal ossification involving the femoral head and neck	HP:0009107
55325	UFSP2	Waddling gait	HP:0002515
55325	UFSP2	Kyphosis	HP:0002808
55325	UFSP2	Scoliosis	HP:0002650
55325	UFSP2	Genu varum	HP:0002970
55325	UFSP2	Abnormality of bone mineral density	HP:0004348
55325	UFSP2	Coxa vara	HP:0002812
55325	UFSP2	Broad femoral neck	HP:0006429
55325	UFSP2	Platyspondyly	HP:0000926
55325	UFSP2	Metaphyseal dysplasia	HP:0100255
79902	NUP85	Focal segmental glomerulosclerosis	HP:0000097
79902	NUP85	Microscopic hematuria	HP:0002907
79902	NUP85	Steroid-resistant nephrotic syndrome	HP:0012588
79902	NUP85	Progressive	HP:0003676
79902	NUP85	Proteinuria	HP:0000093
79902	NUP85	Stage 5 chronic kidney disease	HP:0003774
55331	ACER3	Intellectual disability	HP:0001249
55331	ACER3	Areflexia	HP:0001284
55331	ACER3	Peripheral neuropathy	HP:0009830
55331	ACER3	Developmental regression	HP:0002376
55331	ACER3	Spasticity	HP:0001257
55331	ACER3	Cerebral atrophy	HP:0002059
55331	ACER3	Leukodystrophy	HP:0002415
55331	ACER3	Developmental stagnation	HP:0007281
55331	ACER3	Dystonia	HP:0001332
55331	ACER3	Sloping forehead	HP:0000340
55331	ACER3	Coarse facial features	HP:0000280
55331	ACER3	Progressive	HP:0003676
55331	ACER3	Thick eyebrow	HP:0000574
55331	ACER3	Smooth philtrum	HP:0000319
55331	ACER3	Optic disc pallor	HP:0000543
55331	ACER3	Hypoplasia of the corpus callosum	HP:0002079
79912	PYROXD1	Areflexia	HP:0001284
79912	PYROXD1	Facial palsy	HP:0010628
79912	PYROXD1	Autosomal recessive inheritance	HP:0000007
79912	PYROXD1	Nasal speech	HP:0001611
79912	PYROXD1	Neck muscle weakness	HP:0000467
79912	PYROXD1	Difficulty running	HP:0009046
79912	PYROXD1	Nemaline bodies	HP:0003798
79912	PYROXD1	High palate	HP:0000218
79912	PYROXD1	Scoliosis	HP:0002650
79912	PYROXD1	Micrognathia	HP:0000347
79912	PYROXD1	Slow progression	HP:0003677
79912	PYROXD1	Dysphagia	HP:0002015
79912	PYROXD1	Difficulty climbing stairs	HP:0003551
79912	PYROXD1	Pes cavus	HP:0001761
79912	PYROXD1	Tall stature	HP:0000098
79912	PYROXD1	Pes planus	HP:0001763
79912	PYROXD1	Elevated serum creatine kinase	HP:0003236
79912	PYROXD1	Dental crowding	HP:0000678
79912	PYROXD1	Neonatal hypotonia	HP:0001319
79912	PYROXD1	Reduced vital capacity	HP:0002792
79912	PYROXD1	Spinal rigidity	HP:0003306
79912	PYROXD1	Scapular winging	HP:0003691
79912	PYROXD1	Respiratory tract infection	HP:0011947
79912	PYROXD1	Hyporeflexia	HP:0001265
79912	PYROXD1	Generalized amyotrophy	HP:0003700
79912	PYROXD1	Frequent falls	HP:0002359
79912	PYROXD1	Easy fatigability	HP:0003388
79912	PYROXD1	Ptosis	HP:0000508
79912	PYROXD1	Gowers sign	HP:0003391
55343	SLC35C1	Periodontitis	HP:0000704
55343	SLC35C1	Brachydactyly	HP:0001156
55343	SLC35C1	Febrile seizures	HP:0002373
55343	SLC35C1	Autosomal recessive inheritance	HP:0000007
55343	SLC35C1	Cerebral cortical atrophy	HP:0002120
55343	SLC35C1	Generalized hypotonia	HP:0001290
55343	SLC35C1	Autism	HP:0000717
55343	SLC35C1	Obsessive-compulsive behavior	HP:0000722
55343	SLC35C1	Recurrent otitis media	HP:0000403
55343	SLC35C1	Abnormality of metabolism/homeostasis	HP:0001939
55343	SLC35C1	Coarse facial features	HP:0000280
55343	SLC35C1	Reduction of neutrophil motility	HP:0005400
55343	SLC35C1	Widow's peak	HP:0000349
55343	SLC35C1	Bulbous nose	HP:0000414
55343	SLC35C1	Echolalia	HP:0010529
55343	SLC35C1	Short stature	HP:0004322
55343	SLC35C1	Anxiety	HP:0000739
55343	SLC35C1	Muscular hypotonia	HP:0001252
55343	SLC35C1	Abnormality of the integument	HP:0001574
55343	SLC35C1	Intellectual disability, progressive	HP:0006887
55343	SLC35C1	Pneumonia	HP:0002090
55343	SLC35C1	Short foot	HP:0001773
55343	SLC35C1	Bronchiolitis	HP:0011950
55343	SLC35C1	Global developmental delay	HP:0001263
55343	SLC35C1	Intellectual disability, severe	HP:0010864
55343	SLC35C1	Cellulitis	HP:0100658
55343	SLC35C1	Microcephaly	HP:0000252
6197	RPS6KA3	Pectus carinatum	HP:0000768
6197	RPS6KA3	Death in early adulthood	HP:0100613
6197	RPS6KA3	Lumbar kyphosis	HP:0008454
6197	RPS6KA3	Cataract	HP:0000518
6197	RPS6KA3	Gait disturbance	HP:0001288
6197	RPS6KA3	Generalized hypotonia	HP:0001290
6197	RPS6KA3	Hypoplastic fingernail	HP:0001804
6197	RPS6KA3	Thick nasal septum	HP:0009746
6197	RPS6KA3	Hyperconvex fingernails	HP:0001812
6197	RPS6KA3	Inguinal hernia	HP:0000023
6197	RPS6KA3	Abnormality of retinal pigmentation	HP:0007703
6197	RPS6KA3	Coarse facial features	HP:0000280
6197	RPS6KA3	Epicanthus	HP:0000286
6197	RPS6KA3	Acrocyanosis	HP:0001063
6197	RPS6KA3	Sleep apnea	HP:0010535
6197	RPS6KA3	Long foot	HP:0001833
6197	RPS6KA3	Muscle weakness	HP:0001324
6197	RPS6KA3	Redundant skin	HP:0001582
6197	RPS6KA3	Mandibular prognathia	HP:0000303
6197	RPS6KA3	Narrow iliac wings	HP:0002868
6197	RPS6KA3	Abnormal hair morphology	HP:0001595
6197	RPS6KA3	Hypertelorism	HP:0000316
6197	RPS6KA3	Joint hyperflexibility	HP:0005692
6197	RPS6KA3	Thick eyebrow	HP:0000574
6197	RPS6KA3	Short metacarpal	HP:0010049
6197	RPS6KA3	Bifid sternum	HP:0010309
6197	RPS6KA3	Ventriculomegaly	HP:0002119
6197	RPS6KA3	Hypoplasia of the maxilla	HP:0000327
6197	RPS6KA3	Cerebral cortical atrophy	HP:0002120
6197	RPS6KA3	Prominent supraorbital ridges	HP:0000336
6197	RPS6KA3	Severe global developmental delay	HP:0011344
6197	RPS6KA3	Abnormality of dental morphology	HP:0006482
6197	RPS6KA3	Scoliosis	HP:0002650
6197	RPS6KA3	Abnormal mitral valve morphology	HP:0001633
6197	RPS6KA3	Self-injurious behavior	HP:0100716
6197	RPS6KA3	Abnormal aortic valve morphology	HP:0001646
6197	RPS6KA3	Coxa valga	HP:0002673
6197	RPS6KA3	Mitral regurgitation	HP:0001653
6197	RPS6KA3	Neurological speech impairment	HP:0002167
6197	RPS6KA3	Thickened calvaria	HP:0002684
6197	RPS6KA3	Skeletal muscle atrophy	HP:0003202
6197	RPS6KA3	Brachydactyly	HP:0001156
6197	RPS6KA3	Bipolar affective disorder	HP:0007302
6197	RPS6KA3	Optic atrophy	HP:0000648
6197	RPS6KA3	Uterine prolapse	HP:0000139
6197	RPS6KA3	Craniofacial hyperostosis	HP:0004493
6197	RPS6KA3	X-linked dominant inheritance	HP:0001423
6197	RPS6KA3	Progressive spasticity	HP:0002191
6197	RPS6KA3	Advanced eruption of teeth	HP:0006288
6197	RPS6KA3	Broad palm	HP:0001169
6197	RPS6KA3	Sensorineural hearing impairment	HP:0000407
6197	RPS6KA3	Large hands	HP:0001176
6197	RPS6KA3	Wide mouth	HP:0000154
6197	RPS6KA3	Short distal phalanx of finger	HP:0009882
6197	RPS6KA3	Protruding ear	HP:0000411
6197	RPS6KA3	Hypodontia	HP:0000668
6197	RPS6KA3	Tapered finger	HP:0001182
6197	RPS6KA3	Coarse hair	HP:0002208
6197	RPS6KA3	Depressed nasal bridge	HP:0005280
6197	RPS6KA3	Sporadic	HP:0003745
6197	RPS6KA3	Anodontia	HP:0000674
6197	RPS6KA3	Hyperextensibility of the finger joints	HP:0001187
6197	RPS6KA3	Oligodontia	HP:0000677
6197	RPS6KA3	Dental crowding	HP:0000678
6197	RPS6KA3	Abnormal tricuspid valve morphology	HP:0001702
6197	RPS6KA3	Feeding difficulties in infancy	HP:0008872
6197	RPS6KA3	Delayed eruption of teeth	HP:0000684
6197	RPS6KA3	Abnormal diaphysis morphology	HP:0000940
6197	RPS6KA3	Abnormality of the nasal alae	HP:0000429
6197	RPS6KA3	Widely spaced teeth	HP:0000687
6197	RPS6KA3	Dental malocclusion	HP:0000689
6197	RPS6KA3	Thick lower lip vermilion	HP:0000179
6197	RPS6KA3	Single transverse palmar crease	HP:0000954
6197	RPS6KA3	Wide nose	HP:0000445
6197	RPS6KA3	Narrow palate	HP:0000189
6197	RPS6KA3	Delayed skeletal maturation	HP:0002750
6197	RPS6KA3	Kyphoscoliosis	HP:0002751
6197	RPS6KA3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6197	RPS6KA3	Open mouth	HP:0000194
6197	RPS6KA3	Delayed closure of the anterior fontanelle	HP:0001476
6197	RPS6KA3	Cutis marmorata	HP:0000965
6197	RPS6KA3	Psychosis	HP:0000709
6197	RPS6KA3	Broad nasal tip	HP:0000455
6197	RPS6KA3	Thick nasal alae	HP:0009928
6197	RPS6KA3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
6197	RPS6KA3	Depressivity	HP:0000716
6197	RPS6KA3	Cutis laxa	HP:0000973
6197	RPS6KA3	Anteverted nares	HP:0000463
6197	RPS6KA3	Prominent forehead	HP:0011220
6197	RPS6KA3	Frontal bossing	HP:0002007
6197	RPS6KA3	Abnormality of cardiovascular system morphology	HP:0030680
6197	RPS6KA3	High palate	HP:0000218
6197	RPS6KA3	Broad finger	HP:0001500
6197	RPS6KA3	Abnormality of neuronal migration	HP:0002269
6197	RPS6KA3	Intellectual disability	HP:0001249
6197	RPS6KA3	Seizures	HP:0001250
6197	RPS6KA3	Short stature	HP:0004322
6197	RPS6KA3	Pes planus	HP:0001763
6197	RPS6KA3	Muscular hypotonia	HP:0001252
6197	RPS6KA3	Decreased body weight	HP:0004325
6197	RPS6KA3	Strabismus	HP:0000486
6197	RPS6KA3	Everted lower lip vermilion	HP:0000232
6197	RPS6KA3	Obesity	HP:0001513
6197	RPS6KA3	Pseudoepiphyses of the metacarpals	HP:0009193
6197	RPS6KA3	Downslanted palpebral fissures	HP:0000494
6197	RPS6KA3	Delayed speech and language development	HP:0000750
6197	RPS6KA3	Small for gestational age	HP:0001518
6197	RPS6KA3	Abnormal form of the vertebral bodies	HP:0003312
6197	RPS6KA3	Drumstick terminal phalanges	HP:0006129
6197	RPS6KA3	Rectal prolapse	HP:0002035
6197	RPS6KA3	Motor delay	HP:0001270
6197	RPS6KA3	Kyphosis	HP:0002808
6197	RPS6KA3	Highly arched eyebrow	HP:0002553
6197	RPS6KA3	Telecanthus	HP:0000506
6197	RPS6KA3	Microcephaly	HP:0000252
6197	RPS6KA3	Pectus excavatum	HP:0000767
653361	NCF1	Hepatomegaly	HP:0002240
653361	NCF1	Osteomyelitis	HP:0002754
653361	NCF1	Impaired oxidative burst	HP:0003203
653361	NCF1	Recurrent pneumonia	HP:0006532
653361	NCF1	Eczema	HP:0000964
653361	NCF1	Otitis media	HP:0000388
653361	NCF1	Decreased activity of NADPH oxidase	HP:0003206
653361	NCF1	Autosomal recessive inheritance	HP:0000007
653361	NCF1	Sepsis	HP:0100806
653361	NCF1	Meningitis	HP:0001287
653361	NCF1	Hypermelanotic macule	HP:0001034
653361	NCF1	Granulomatosis	HP:0002955
653361	NCF1	Tracheoesophageal fistula	HP:0002575
653361	NCF1	Splenomegaly	HP:0001744
653361	NCF1	Eczematoid dermatitis	HP:0000976
653361	NCF1	Abnormality of neutrophils	HP:0001874
653361	NCF1	Lymphadenitis	HP:0002840
653361	NCF1	Fever	HP:0001945
653361	NCF1	Recurrent Burkholderia cepacia infections	HP:0002842
653361	NCF1	Lymphadenopathy	HP:0002716
653361	NCF1	Recurrent respiratory infections	HP:0002205
653361	NCF1	Recurrent bacterial skin infections	HP:0005406
653361	NCF1	Cutaneous photosensitivity	HP:0000992
653361	NCF1	Immunodeficiency	HP:0002721
653361	NCF1	Absence of bactericidal oxidative respiratory burst in phagocytes	HP:0002723
653361	NCF1	Recurrent Aspergillus infections	HP:0002724
653361	NCF1	Juvenile onset	HP:0003621
653361	NCF1	Pyloric stenosis	HP:0002021
653361	NCF1	Recurrent Staphylococcus aureus infections	HP:0002726
653361	NCF1	Gingivitis	HP:0000230
653361	NCF1	Rectal abscess	HP:0005224
653361	NCF1	Malabsorption	HP:0002024
653361	NCF1	Skin ulcer	HP:0200042
653361	NCF1	Liver abscess	HP:0100523
653361	NCF1	Chronic obstructive pulmonary disease	HP:0006510
653361	NCF1	Mediastinal lymphadenopathy	HP:0100721
653361	NCF1	Cellulitis	HP:0100658
653361	NCF1	Recurrent E. coli infections	HP:0002740
653361	NCF1	Inflammatory abnormality of the eye	HP:0100533
653361	NCF1	Recurrent Serratia marcescens infections	HP:0002741
653361	NCF1	Recurrent Klebsiella infections	HP:0002742
653361	NCF1	Sinusitis	HP:0000246
653361	NCF1	Discoid lupus rash	HP:0007417
6201	RPS7	Short stature	HP:0004322
6201	RPS7	Abnormality of the hand	HP:0001155
6201	RPS7	Autosomal dominant inheritance	HP:0000006
6201	RPS7	Depressed nasal ridge	HP:0000457
6201	RPS7	Abnormality of the genital system	HP:0000078
6201	RPS7	Increased mean corpuscular volume	HP:0005518
6201	RPS7	Cleft palate	HP:0000175
6201	RPS7	Abnormality of the urinary system	HP:0000079
6201	RPS7	Wide nasal bridge	HP:0000431
6201	RPS7	Thick lower lip vermilion	HP:0000179
6201	RPS7	Neutropenia	HP:0001875
6201	RPS7	Pallor	HP:0000980
6201	RPS7	Macrocytic anemia	HP:0001972
6201	RPS7	Delayed puberty	HP:0000823
6201	RPS7	Thick upper lip vermilion	HP:0000215
6201	RPS7	Acute leukemia	HP:0002488
6201	RPS7	Fatigue	HP:0012378
6201	RPS7	Arrhythmia	HP:0011675
6201	RPS7	Migraine	HP:0002076
6201	RPS7	Short nose	HP:0003196
6201	RPS7	Hypertelorism	HP:0000316
6204	RPS10	Vitamin D deficiency	HP:0100512
6204	RPS10	Short stature	HP:0004322
6204	RPS10	Abnormality of the hand	HP:0001155
6204	RPS10	Autosomal dominant inheritance	HP:0000006
6204	RPS10	Growth delay	HP:0001510
6204	RPS10	Depressed nasal ridge	HP:0000457
6204	RPS10	Abnormality of the genital system	HP:0000078
6204	RPS10	Anemia	HP:0001903
6204	RPS10	Cleft palate	HP:0000175
6204	RPS10	Abnormality of the urinary system	HP:0000079
6204	RPS10	Webbed neck	HP:0000465
6204	RPS10	Thick lower lip vermilion	HP:0000179
6204	RPS10	Pallor	HP:0000980
6204	RPS10	Macrocytic anemia	HP:0001972
6204	RPS10	Delayed puberty	HP:0000823
6204	RPS10	Acute leukemia	HP:0002488
6204	RPS10	Fatigue	HP:0012378
6204	RPS10	Arrhythmia	HP:0011675
6204	RPS10	Migraine	HP:0002076
6204	RPS10	Short nose	HP:0003196
120892	LRRK2	Akinesia	HP:0002304
120892	LRRK2	Muscle spasm	HP:0003394
120892	LRRK2	Cerebral cortical atrophy	HP:0002120
120892	LRRK2	Agitation	HP:0000713
120892	LRRK2	Monotonic speech	HP:0031435
120892	LRRK2	Diplopia	HP:0000651
120892	LRRK2	Depressivity	HP:0000716
120892	LRRK2	Rigidity	HP:0002063
120892	LRRK2	Schizophrenia	HP:0100753
120892	LRRK2	Resting tremor	HP:0002322
120892	LRRK2	Hypomimic face	HP:0000338
120892	LRRK2	Bradykinesia	HP:0002067
120892	LRRK2	Dementia	HP:0000726
120892	LRRK2	Lewy bodies	HP:0100315
120892	LRRK2	Spastic/hyperactive bladder	HP:0005340
120892	LRRK2	Dysphagia	HP:0002015
120892	LRRK2	Weight loss	HP:0001824
120892	LRRK2	Chronic constipation	HP:0012450
120892	LRRK2	Apathy	HP:0000741
120892	LRRK2	Impulsivity	HP:0100710
120892	LRRK2	Low frustration tolerance	HP:0000744
120892	LRRK2	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
120892	LRRK2	Dystonia	HP:0001332
120892	LRRK2	Dyskinesia	HP:0100660
120892	LRRK2	Frequent falls	HP:0002359
120892	LRRK2	Sleep disturbance	HP:0002360
120892	LRRK2	Hyposmia	HP:0004409
120892	LRRK2	Shuffling gait	HP:0002362
120892	LRRK2	Gliosis	HP:0002171
120892	LRRK2	Postural instability	HP:0002172
120892	LRRK2	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
120892	LRRK2	Visual hallucinations	HP:0002367
79932	KIAA0319L	Joint contracture of the hand	HP:0009473
79932	KIAA0319L	Nausea and vomiting	HP:0002017
79932	KIAA0319L	Mucosal telangiectasiae	HP:0100579
79932	KIAA0319L	Gastroesophageal reflux	HP:0002020
79932	KIAA0319L	Telangiectasia of the skin	HP:0100585
79932	KIAA0319L	Skin ulcer	HP:0200042
79932	KIAA0319L	Pulmonary arterial hypertension	HP:0002092
79932	KIAA0319L	Contractures involving the joints of the feet	HP:0008366
79932	KIAA0319L	Autoimmunity	HP:0002960
79932	KIAA0319L	Hypopigmented skin patches	HP:0001053
79932	KIAA0319L	Pulmonary fibrosis	HP:0002206
79932	KIAA0319L	Dysphagia	HP:0002015
79932	KIAA0319L	Narrow foramen obturatorium	HP:0100958
79934	COQ8B	Hypoalbuminemia	HP:0003073
79934	COQ8B	Focal segmental glomerulosclerosis	HP:0000097
79934	COQ8B	Nephrotic syndrome	HP:0000100
79934	COQ8B	Autosomal recessive inheritance	HP:0000007
79934	COQ8B	Edema	HP:0000969
79934	COQ8B	Progressive	HP:0003676
79934	COQ8B	Proteinuria	HP:0000093
79934	COQ8B	Stage 5 chronic kidney disease	HP:0003774
6208	RPS14	Sporadic	HP:0003745
6208	RPS14	Somatic mutation	HP:0001428
6208	RPS14	Erythroid hypoplasia	HP:0012133
6208	RPS14	Autosomal dominant contiguous gene syndrome	HP:0001452
6208	RPS14	Refractory macrocytic anemia	HP:0004861
6208	RPS14	Abnormal megakaryocyte morphology	HP:0012143
6208	RPS14	Myelodysplasia	HP:0002863
79944	L2HGDH	Macrocephaly	HP:0000256
79944	L2HGDH	Aplasia/Hypoplasia of the cerebellum	HP:0007360
79944	L2HGDH	Behavioral abnormality	HP:0000708
79944	L2HGDH	Spastic tetraparesis	HP:0001285
79944	L2HGDH	Autosomal recessive inheritance	HP:0000007
79944	L2HGDH	Developmental regression	HP:0002376
79944	L2HGDH	Optic atrophy	HP:0000648
79944	L2HGDH	Infantile onset	HP:0003593
79944	L2HGDH	Corpus callosum atrophy	HP:0007371
79944	L2HGDH	Morphological abnormality of the pyramidal tract	HP:0002062
79944	L2HGDH	Encephalitis	HP:0002383
79944	L2HGDH	L-2-hydroxyglutaric aciduria	HP:0040144
79944	L2HGDH	L-2-hydroxyglutaric acidemia	HP:0040147
79944	L2HGDH	Abnormality of extrapyramidal motor function	HP:0002071
79944	L2HGDH	Neoplasm of the nervous system	HP:0004375
79944	L2HGDH	Abnormal pyramidal sign	HP:0007256
79944	L2HGDH	Severe demyelination of the white matter	HP:0007258
79944	L2HGDH	Seizures	HP:0001250
79944	L2HGDH	Muscular hypotonia	HP:0001252
79944	L2HGDH	Strabismus	HP:0000486
79944	L2HGDH	Intellectual disability, progressive	HP:0006887
79944	L2HGDH	Global brain atrophy	HP:0002283
79944	L2HGDH	Hearing impairment	HP:0000365
79944	L2HGDH	Intellectual disability, severe	HP:0010864
79944	L2HGDH	Leukoencephalopathy	HP:0002352
79944	L2HGDH	Dysphasia	HP:0002357
79944	L2HGDH	Cerebellar atrophy	HP:0001272
79944	L2HGDH	Gliosis	HP:0002171
79944	L2HGDH	Nystagmus	HP:0000639
79947	DHDDS	Abnormal electroretinogram	HP:0000512
79947	DHDDS	Cataract	HP:0000518
79947	DHDDS	Autosomal dominant inheritance	HP:0000006
79947	DHDDS	Hypogonadism	HP:0000135
79947	DHDDS	Autosomal recessive inheritance	HP:0000007
79947	DHDDS	Optic atrophy	HP:0000648
79947	DHDDS	Generalized hypotonia	HP:0001290
79947	DHDDS	Cerebral atrophy	HP:0002059
79947	DHDDS	Unsteady gait	HP:0002317
79947	DHDDS	Myoclonic absence	HP:0011150
79947	DHDDS	Rigidity	HP:0002063
79947	DHDDS	Encephalopathy	HP:0001298
79947	DHDDS	Bradykinesia	HP:0002067
79947	DHDDS	Conductive hearing impairment	HP:0000405
79947	DHDDS	Generalized tonic-clonic seizures	HP:0002069
79947	DHDDS	Decreased fetal movement	HP:0001558
79947	DHDDS	Sensorineural hearing impairment	HP:0000407
79947	DHDDS	Abnormality of retinal pigmentation	HP:0007703
79947	DHDDS	Hypodontia	HP:0000668
79947	DHDDS	Cryptorchidism	HP:0000028
79947	DHDDS	Abnormal myelination	HP:0012447
79947	DHDDS	Hypoplasia of penis	HP:0008736
79947	DHDDS	Retinal degeneration	HP:0000546
79947	DHDDS	Abnormal testis morphology	HP:0000035
79947	DHDDS	Wide nasal bridge	HP:0000431
79947	DHDDS	EEG abnormality	HP:0002353
79947	DHDDS	Difficulty walking	HP:0002355
79947	DHDDS	Keratoconus	HP:0000563
79947	DHDDS	Dystonia	HP:0001332
79947	DHDDS	Dyskinesia	HP:0100660
79947	DHDDS	Micropenis	HP:0000054
79947	DHDDS	Myoclonus	HP:0001336
79947	DHDDS	Tremor	HP:0001337
79947	DHDDS	Arnold-Chiari type I malformation	HP:0007099
79947	DHDDS	Feeding difficulties	HP:0011968
79947	DHDDS	Hepatomegaly	HP:0002240
79947	DHDDS	Hyperreflexia	HP:0001347
79947	DHDDS	Epileptic encephalopathy	HP:0200134
79947	DHDDS	Developmental regression	HP:0002376
79947	DHDDS	Hyperinsulinemia	HP:0000842
79947	DHDDS	Generalized myoclonic seizures	HP:0002123
79947	DHDDS	Limb hypertonia	HP:0002509
79947	DHDDS	Autism	HP:0000717
79947	DHDDS	Anteverted nares	HP:0000463
79947	DHDDS	Status epilepticus	HP:0002133
79947	DHDDS	Hypsarrhythmia	HP:0002521
79947	DHDDS	Ophthalmoplegia	HP:0000602
79947	DHDDS	Type II diabetes mellitus	HP:0005978
79947	DHDDS	Atypical scarring of skin	HP:0000987
79947	DHDDS	High forehead	HP:0000348
79947	DHDDS	EEG with multifocal slow activity	HP:0010844
79947	DHDDS	Elevated hepatic transaminase	HP:0002910
79947	DHDDS	Intellectual disability	HP:0001249
79947	DHDDS	Short stature	HP:0004322
79947	DHDDS	Seizures	HP:0001250
79947	DHDDS	Ataxia	HP:0001251
79947	DHDDS	Gastroesophageal reflux	HP:0002020
79947	DHDDS	Failure to thrive	HP:0001508
79947	DHDDS	Photophobia	HP:0000613
79947	DHDDS	Impulsivity	HP:0100710
79947	DHDDS	Intrauterine growth retardation	HP:0001511
79947	DHDDS	Spasticity	HP:0001257
79947	DHDDS	Obesity	HP:0001513
79947	DHDDS	Attention deficit hyperactivity disorder	HP:0007018
79947	DHDDS	Blindness	HP:0000618
79947	DHDDS	Downslanted palpebral fissures	HP:0000494
79947	DHDDS	Delayed speech and language development	HP:0000750
79947	DHDDS	Abnormal retinal vascular morphology	HP:0008046
79947	DHDDS	Global developmental delay	HP:0001263
79947	DHDDS	Hyporeflexia	HP:0001265
79947	DHDDS	Cystoid macular edema	HP:0011505
79947	DHDDS	Mental deterioration	HP:0001268
79947	DHDDS	Variable expressivity	HP:0003828
79947	DHDDS	Poor head control	HP:0002421
79947	DHDDS	Glaucoma	HP:0000501
79947	DHDDS	Abnormality of vision	HP:0000504
79947	DHDDS	Abnormal corpus callosum morphology	HP:0001273
79947	DHDDS	Progressive night blindness	HP:0007675
79947	DHDDS	Microcephaly	HP:0000252
79947	DHDDS	Ptosis	HP:0000508
79947	DHDDS	Rod-cone dystrophy	HP:0000510
79947	DHDDS	Nystagmus	HP:0000639
6218	RPS17	Short stature	HP:0004322
6218	RPS17	Abnormality of the hand	HP:0001155
6218	RPS17	Erythroid hypoplasia	HP:0012133
6218	RPS17	Autosomal dominant inheritance	HP:0000006
6218	RPS17	Reticulocytopenia	HP:0001896
6218	RPS17	Depressed nasal ridge	HP:0000457
6218	RPS17	Abnormality of the genital system	HP:0000078
6218	RPS17	Abnormal facial shape	HP:0001999
6218	RPS17	Cleft palate	HP:0000175
6218	RPS17	Abnormality of the urinary system	HP:0000079
6218	RPS17	Neutropenia	HP:0001875
6218	RPS17	Thick lower lip vermilion	HP:0000179
6218	RPS17	Macrocytic anemia	HP:0001972
6218	RPS17	Pallor	HP:0000980
6218	RPS17	Delayed puberty	HP:0000823
6218	RPS17	Acute leukemia	HP:0002488
6218	RPS17	Fatigue	HP:0012378
6218	RPS17	Arrhythmia	HP:0011675
6218	RPS17	Migraine	HP:0002076
6218	RPS17	Short nose	HP:0003196
6218	RPS17	Atrial septal defect	HP:0001631
6223	RPS19	Abnormality of the hand	HP:0001155
6223	RPS19	Narrow chest	HP:0000774
6223	RPS19	Autosomal dominant inheritance	HP:0000006
6223	RPS19	Infantile onset	HP:0003593
6223	RPS19	Parietal foramina	HP:0002697
6223	RPS19	Delayed cranial suture closure	HP:0000270
6223	RPS19	Coarctation of aorta	HP:0001680
6223	RPS19	Retrognathia	HP:0000278
6223	RPS19	Arrhythmia	HP:0011675
6223	RPS19	Hypoplastic sacral vertebrae	HP:0008475
6223	RPS19	Migraine	HP:0002076
6223	RPS19	Hypoplasia of the radius	HP:0002984
6223	RPS19	Cleft palate	HP:0000175
6223	RPS19	Myelodysplasia	HP:0002863
6223	RPS19	Triphalangeal thumb	HP:0001199
6223	RPS19	Absent thumb	HP:0009777
6223	RPS19	Hypoplastic ilia	HP:0000946
6223	RPS19	Short thumb	HP:0009778
6223	RPS19	Thick lower lip vermilion	HP:0000179
6223	RPS19	Macrocytic anemia	HP:0001972
6223	RPS19	Delayed puberty	HP:0000823
6223	RPS19	Acute leukemia	HP:0002488
6223	RPS19	Colon cancer	HP:0003003
6223	RPS19	Hypertelorism	HP:0000316
6223	RPS19	Elevated red cell adenosine deaminase activity	HP:0030270
6223	RPS19	Depressed nasal ridge	HP:0000457
6223	RPS19	Congenital hypoplastic anemia	HP:0004810
6223	RPS19	Cleft upper lip	HP:0000204
6223	RPS19	Abnormality of the genital system	HP:0000078
6223	RPS19	Abnormality of the urinary system	HP:0000079
6223	RPS19	Webbed neck	HP:0000465
6223	RPS19	Thrombocytopenia	HP:0001873
6223	RPS19	Neutropenia	HP:0001875
6223	RPS19	Pallor	HP:0000980
6223	RPS19	Short neck	HP:0000470
6223	RPS19	Premature birth	HP:0001622
6223	RPS19	Partial duplication of thumb phalanx	HP:0009944
6223	RPS19	Fatigue	HP:0012378
6223	RPS19	High palate	HP:0000218
6223	RPS19	Micrognathia	HP:0000347
6223	RPS19	Ventricular septal defect	HP:0001629
6223	RPS19	Atrial septal defect	HP:0001631
6223	RPS19	Intellectual disability	HP:0001249
6223	RPS19	Short stature	HP:0004322
6223	RPS19	Congestive heart failure	HP:0001635
6223	RPS19	Failure to thrive	HP:0001508
6223	RPS19	Strabismus	HP:0000486
6223	RPS19	Thrombocytosis	HP:0001894
6223	RPS19	Intrauterine growth retardation	HP:0001511
6223	RPS19	Reticulocytopenia	HP:0001896
6223	RPS19	Osteosarcoma	HP:0002669
6223	RPS19	Downslanted palpebral fissures	HP:0000494
6223	RPS19	11 pairs of ribs	HP:0000878
6223	RPS19	Bifid thoracic vertebrae	HP:0008437
6223	RPS19	Short nose	HP:0003196
6223	RPS19	Microcephaly	HP:0000252
6223	RPS19	Hypoplastic coccygeal vertebrae	HP:0008447
79955	PDZD7	Abnormal electroretinogram	HP:0000512
79955	PDZD7	Aplasia/Hypoplasia of the cerebellum	HP:0007360
79955	PDZD7	Abnormality of dental color	HP:0011073
79955	PDZD7	Cataract	HP:0000518
79955	PDZD7	Autosomal recessive inheritance	HP:0000007
79955	PDZD7	Cerebral cortical atrophy	HP:0002120
79955	PDZD7	Depressivity	HP:0000716
79955	PDZD7	Congenital sensorineural hearing impairment	HP:0008527
79955	PDZD7	Schizophrenia	HP:0100753
79955	PDZD7	Nyctalopia	HP:0000662
79955	PDZD7	Sensorineural hearing impairment	HP:0000407
79955	PDZD7	Hemianopia	HP:0012377
79955	PDZD7	Carious teeth	HP:0000670
79955	PDZD7	Myopia	HP:0000545
79955	PDZD7	Hallucinations	HP:0000738
79955	PDZD7	Anxiety	HP:0000739
79955	PDZD7	Ataxia	HP:0001251
79955	PDZD7	Abnormality of dental enamel	HP:0000682
79955	PDZD7	Iris hypopigmentation	HP:0007730
79955	PDZD7	Microdontia	HP:0000691
79955	PDZD7	Visual loss	HP:0000572
79955	PDZD7	Subcortical cerebral atrophy	HP:0012157
79955	PDZD7	Rod-cone dystrophy	HP:0000510
79955	PDZD7	Nystagmus	HP:0000639
79955	PDZD7	Scotoma	HP:0000575
6228	RPS23	Depressed nasal bridge	HP:0005280
6228	RPS23	Short stature	HP:0004322
6228	RPS23	Autosomal dominant inheritance	HP:0000006
6228	RPS23	Intellectual disability, mild	HP:0001256
6228	RPS23	Generalized hypotonia	HP:0001290
6228	RPS23	Long eyelashes	HP:0000527
6228	RPS23	Cleft palate	HP:0000175
6228	RPS23	Low-set ears	HP:0000369
6228	RPS23	Conductive hearing impairment	HP:0000405
6228	RPS23	Motor delay	HP:0001270
6228	RPS23	Autistic behavior	HP:0000729
6228	RPS23	Highly arched eyebrow	HP:0002553
6228	RPS23	Abnormality of the pinna	HP:0000377
6228	RPS23	High palate	HP:0000218
6228	RPS23	Single transverse palmar crease	HP:0000954
6228	RPS23	Brittle hair	HP:0002299
6228	RPS23	Microcephaly	HP:0000252
6228	RPS23	Flat occiput	HP:0005469
6228	RPS23	Increased number of teeth	HP:0011069
6228	RPS23	Thick eyebrow	HP:0000574
6228	RPS23	Epicanthus	HP:0000286
6229	RPS24	Persistence of hemoglobin F	HP:0011904
6229	RPS24	Short stature	HP:0004322
6229	RPS24	Abnormality of the hand	HP:0001155
6229	RPS24	Autosomal dominant inheritance	HP:0000006
6229	RPS24	Reticulocytopenia	HP:0001896
6229	RPS24	Depressed nasal ridge	HP:0000457
6229	RPS24	Abnormality of the genital system	HP:0000078
6229	RPS24	Increased mean corpuscular volume	HP:0005518
6229	RPS24	Cleft palate	HP:0000175
6229	RPS24	Abnormality of the urinary system	HP:0000079
6229	RPS24	Webbed neck	HP:0000465
6229	RPS24	Thick lower lip vermilion	HP:0000179
6229	RPS24	Pallor	HP:0000980
6229	RPS24	Macrocytic anemia	HP:0001972
6229	RPS24	Delayed puberty	HP:0000823
6229	RPS24	Acute leukemia	HP:0002488
6229	RPS24	Fatigue	HP:0012378
6229	RPS24	Arrhythmia	HP:0011675
6229	RPS24	Migraine	HP:0002076
6229	RPS24	Short nose	HP:0003196
6231	RPS26	Abnormality of the hand	HP:0001155
6231	RPS26	Choanal atresia	HP:0000453
6231	RPS26	Autosomal dominant inheritance	HP:0000006
6231	RPS26	Congenital diaphragmatic hernia	HP:0000776
6231	RPS26	Mandibulofacial dysostosis	HP:0005321
6231	RPS26	Infantile onset	HP:0003593
6231	RPS26	Depressed nasal ridge	HP:0000457
6231	RPS26	Abnormality of the genital system	HP:0000078
6231	RPS26	Abnormality of the urinary system	HP:0000079
6231	RPS26	Malar flattening	HP:0000272
6231	RPS26	Pallor	HP:0000980
6231	RPS26	Conductive hearing impairment	HP:0000405
6231	RPS26	Ectopic kidney	HP:0000086
6231	RPS26	Fatigue	HP:0012378
6231	RPS26	Broad neck	HP:0000475
6231	RPS26	Micrognathia	HP:0000347
6231	RPS26	Arrhythmia	HP:0011675
6231	RPS26	Migraine	HP:0002076
6231	RPS26	Atresia of the external auditory canal	HP:0000413
6231	RPS26	Ventricular septal defect	HP:0001629
6231	RPS26	Short stature	HP:0004322
6231	RPS26	Posteriorly rotated ears	HP:0000358
6231	RPS26	Microtia	HP:0008551
6231	RPS26	Reticulocytopenia	HP:0001896
6231	RPS26	Patent ductus arteriosus	HP:0001643
6231	RPS26	Anemia	HP:0001903
6231	RPS26	Cleft palate	HP:0000175
6231	RPS26	Low-set ears	HP:0000369
6231	RPS26	Respiratory distress	HP:0002098
6231	RPS26	Thick lower lip vermilion	HP:0000179
6231	RPS26	Macrocytic anemia	HP:0001972
6231	RPS26	Delayed puberty	HP:0000823
6231	RPS26	Acute leukemia	HP:0002488
6231	RPS26	Short nose	HP:0003196
6232	RPS27	Short stature	HP:0004322
6232	RPS27	Abnormality of the hand	HP:0001155
6232	RPS27	Autosomal dominant inheritance	HP:0000006
6232	RPS27	Depressed nasal ridge	HP:0000457
6232	RPS27	Abnormality of the genital system	HP:0000078
6232	RPS27	Cleft palate	HP:0000175
6232	RPS27	Abnormality of the urinary system	HP:0000079
6232	RPS27	Anemia	HP:0001903
6232	RPS27	Thick lower lip vermilion	HP:0000179
6232	RPS27	Pallor	HP:0000980
6232	RPS27	Macrocytic anemia	HP:0001972
6232	RPS27	Delayed puberty	HP:0000823
6232	RPS27	Acute leukemia	HP:0002488
6232	RPS27	Hyperpigmentation of the skin	HP:0000953
6232	RPS27	Fatigue	HP:0012378
6232	RPS27	Arrhythmia	HP:0011675
6232	RPS27	Migraine	HP:0002076
6232	RPS27	Short nose	HP:0003196
6234	RPS28	Feeding difficulties	HP:0011968
6234	RPS28	Abnormality of the hand	HP:0001155
6234	RPS28	Autosomal dominant inheritance	HP:0000006
6234	RPS28	Congenital diaphragmatic hernia	HP:0000776
6234	RPS28	Infantile onset	HP:0003593
6234	RPS28	Depressed nasal ridge	HP:0000457
6234	RPS28	Abnormality of the genital system	HP:0000078
6234	RPS28	Abnormality of the urinary system	HP:0000079
6234	RPS28	Pallor	HP:0000980
6234	RPS28	Sparse and thin eyebrow	HP:0000535
6234	RPS28	Midface retrusion	HP:0011800
6234	RPS28	Mixed hearing impairment	HP:0000410
6234	RPS28	Fatigue	HP:0012378
6234	RPS28	Micrognathia	HP:0000347
6234	RPS28	Broad neck	HP:0000475
6234	RPS28	Arrhythmia	HP:0011675
6234	RPS28	Migraine	HP:0002076
6234	RPS28	Epicanthus	HP:0000286
6234	RPS28	Short stature	HP:0004322
6234	RPS28	Posteriorly rotated ears	HP:0000358
6234	RPS28	Microtia	HP:0008551
6234	RPS28	Downslanted palpebral fissures	HP:0000494
6234	RPS28	Global developmental delay	HP:0001263
6234	RPS28	Cleft palate	HP:0000175
6234	RPS28	Respiratory distress	HP:0002098
6234	RPS28	Thick lower lip vermilion	HP:0000179
6234	RPS28	Macrocytic anemia	HP:0001972
6234	RPS28	Delayed puberty	HP:0000823
6234	RPS28	Acute leukemia	HP:0002488
6234	RPS28	Granulocytopenia	HP:0001913
6234	RPS28	Short nose	HP:0003196
6235	RPS29	Short stature	HP:0004322
6235	RPS29	Abnormality of the hand	HP:0001155
6235	RPS29	Autosomal dominant inheritance	HP:0000006
6235	RPS29	Childhood onset	HP:0011463
6235	RPS29	Depressed nasal ridge	HP:0000457
6235	RPS29	Normocytic anemia	HP:0001897
6235	RPS29	Abnormality of the genital system	HP:0000078
6235	RPS29	Cleft palate	HP:0000175
6235	RPS29	Abnormality of the urinary system	HP:0000079
6235	RPS29	Thick lower lip vermilion	HP:0000179
6235	RPS29	Pallor	HP:0000980
6235	RPS29	Macrocytic anemia	HP:0001972
6235	RPS29	Variable expressivity	HP:0003828
6235	RPS29	Incomplete penetrance	HP:0003829
6235	RPS29	Delayed puberty	HP:0000823
6235	RPS29	Acute leukemia	HP:0002488
6235	RPS29	Fatigue	HP:0012378
6235	RPS29	Arrhythmia	HP:0011675
6235	RPS29	Migraine	HP:0002076
6235	RPS29	Short nose	HP:0003196
6235	RPS29	Elevated red cell adenosine deaminase activity	HP:0030270
30813	VSX1	Abnormal electroretinogram	HP:0000512
30813	VSX1	Abnormal corneal endothelium morphology	HP:0011488
30813	VSX1	Astigmatism	HP:0000483
30813	VSX1	Abnormality of the outer ear	HP:0000356
30813	VSX1	Young adult onset	HP:0011462
30813	VSX1	Autosomal dominant inheritance	HP:0000006
30813	VSX1	Hydrocephalus	HP:0000238
30813	VSX1	Heterogeneous	HP:0001425
30813	VSX1	Keratoconus	HP:0000563
30813	VSX1	Ocular anterior segment dysgenesis	HP:0007700
30813	VSX1	Posterior fossa cyst	HP:0007291
30813	VSX1	Anterior encephalocele	HP:0007035
30813	VSX1	Hypertelorism	HP:0000316
6237	RRAS	Pectus carinatum	HP:0000768
6237	RRAS	Brachydactyly	HP:0001156
6237	RRAS	Thickened helices	HP:0000391
6237	RRAS	Proptosis	HP:0000520
6237	RRAS	Abnormality of coagulation	HP:0001928
6237	RRAS	Enlarged thorax	HP:0100625
6237	RRAS	Sensorineural hearing impairment	HP:0000407
6237	RRAS	Midface retrusion	HP:0011800
6237	RRAS	Arrhythmia	HP:0011675
6237	RRAS	Cryptorchidism	HP:0000028
6237	RRAS	Radioulnar synostosis	HP:0002974
6237	RRAS	Coarse hair	HP:0002208
6237	RRAS	Feeding difficulties in infancy	HP:0008872
6237	RRAS	Hypogonadotrophic hypogonadism	HP:0000044
6237	RRAS	Muscle weakness	HP:0001324
6237	RRAS	Thick lower lip vermilion	HP:0000179
6237	RRAS	Abnormal dermatoglyphics	HP:0007477
6237	RRAS	Hypertelorism	HP:0000316
6237	RRAS	Joint hyperflexibility	HP:0005692
6237	RRAS	Delayed skeletal maturation	HP:0002750
6237	RRAS	Pulmonary artery stenosis	HP:0004415
6237	RRAS	Hepatomegaly	HP:0002240
6237	RRAS	Triangular face	HP:0000325
6237	RRAS	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
6237	RRAS	Abnormality of the spleen	HP:0001743
6237	RRAS	Webbed neck	HP:0000465
6237	RRAS	Wide intermamillary distance	HP:0006610
6237	RRAS	Scoliosis	HP:0002650
6237	RRAS	Thickened nuchal skin fold	HP:0000474
6237	RRAS	High palate	HP:0000218
6237	RRAS	Micrognathia	HP:0000347
6237	RRAS	Cystic hygroma	HP:0000476
6237	RRAS	High forehead	HP:0000348
6237	RRAS	Abnormal platelet function	HP:0011869
6237	RRAS	Short stature	HP:0004322
6237	RRAS	Abnormal hair quantity	HP:0011362
6237	RRAS	Melanocytic nevus	HP:0000995
6237	RRAS	Abnormal bleeding	HP:0001892
6237	RRAS	Muscular hypotonia	HP:0001252
6237	RRAS	Strabismus	HP:0000486
6237	RRAS	Abnormal pulmonary valve morphology	HP:0001641
6237	RRAS	Dysarthria	HP:0001260
6237	RRAS	Lymphedema	HP:0001004
6237	RRAS	Downslanted palpebral fissures	HP:0000494
6237	RRAS	Low-set, posteriorly rotated ears	HP:0000368
6237	RRAS	Clinodactyly of the 5th finger	HP:0004209
6237	RRAS	Low posterior hairline	HP:0002162
6237	RRAS	Aplasia of the semicircular canal	HP:0011381
6237	RRAS	Ptosis	HP:0000508
6237	RRAS	Pectus excavatum	HP:0000767
6237	RRAS	Nystagmus	HP:0000639
6239	RREB1	Umbilical hernia	HP:0001537
6239	RREB1	Tetany	HP:0001281
6239	RREB1	Intestinal malrotation	HP:0002566
6239	RREB1	Turricephaly	HP:0000262
6239	RREB1	Cataract	HP:0000518
6239	RREB1	Hypoplasia of the thymus	HP:0000778
6239	RREB1	Abnormal aortic arch morphology	HP:0012303
6239	RREB1	Malar flattening	HP:0000272
6239	RREB1	Long face	HP:0000276
6239	RREB1	Inguinal hernia	HP:0000023
6239	RREB1	Polyhydramnios	HP:0001561
6239	RREB1	Seborrheic dermatitis	HP:0001051
6239	RREB1	Cryptorchidism	HP:0000028
6239	RREB1	Hypopigmented skin patches	HP:0001053
6239	RREB1	Epicanthus	HP:0000286
6239	RREB1	Acne	HP:0001061
6239	RREB1	Foot polydactyly	HP:0001829
6239	RREB1	Hypospadias	HP:0000047
6239	RREB1	Bowel incontinence	HP:0002607
6239	RREB1	Specific learning disability	HP:0001328
6239	RREB1	Asthma	HP:0002099
6239	RREB1	Dysphasia	HP:0002357
6239	RREB1	Hypothyroidism	HP:0000821
6239	RREB1	Abnormal lung lobation	HP:0002101
6239	RREB1	Microphthalmia	HP:0000568
6239	RREB1	Cholelithiasis	HP:0001081
6239	RREB1	Varicose veins	HP:0002619
6239	RREB1	Impaired T cell function	HP:0005435
6239	RREB1	Multiple suture craniosynostosis	HP:0011324
6239	RREB1	Joint hyperflexibility	HP:0005692
6239	RREB1	Hypertelorism	HP:0000316
6239	RREB1	Hypoparathyroidism	HP:0000829
6239	RREB1	Laryngomalacia	HP:0001601
6239	RREB1	Short philtrum	HP:0000322
6239	RREB1	Hyperthyroidism	HP:0000836
6239	RREB1	Upslanted palpebral fissure	HP:0000582
6239	RREB1	Nasal speech	HP:0001611
6239	RREB1	Vesicoureteral reflux	HP:0000076
6239	RREB1	Thrombocytopenia	HP:0001873
6239	RREB1	Hypocalcemia	HP:0002901
6239	RREB1	Long philtrum	HP:0000343
6239	RREB1	Abnormality of the pharynx	HP:0000600
6239	RREB1	Renal hypoplasia	HP:0000089
6239	RREB1	Arthritis	HP:0001369
6239	RREB1	Scoliosis	HP:0002650
6239	RREB1	Micrognathia	HP:0000347
6239	RREB1	Arrhinencephaly	HP:0002139
6239	RREB1	Ventricular septal defect	HP:0001629
6239	RREB1	Atrial septal defect	HP:0001631
6239	RREB1	Tetralogy of Fallot	HP:0001636
6239	RREB1	Occipital myelomeningocele	HP:0007271
6239	RREB1	Abnormal pulmonary valve morphology	HP:0001641
6239	RREB1	Attention deficit hyperactivity disorder	HP:0007018
6239	RREB1	Patent ductus arteriosus	HP:0001643
6239	RREB1	Chronic obstructive pulmonary disease	HP:0006510
6239	RREB1	Abnormal aortic valve morphology	HP:0001646
6239	RREB1	Retinal arteriolar tortuosity	HP:0001136
6239	RREB1	Polycystic kidney dysplasia	HP:0000113
6239	RREB1	Low-set ears	HP:0000369
6239	RREB1	Posterior embryotoxon	HP:0000627
6239	RREB1	Truncus arteriosus	HP:0001660
6239	RREB1	Hypertensive crisis	HP:0100735
6239	RREB1	Small earlobe	HP:0000385
6239	RREB1	Abnormality of the uterus	HP:0000130
6239	RREB1	Platybasia	HP:0002691
6239	RREB1	Chronic otitis media	HP:0000389
6239	RREB1	Bipolar affective disorder	HP:0007302
6239	RREB1	Optic atrophy	HP:0000648
6239	RREB1	Hand polydactyly	HP:0001161
6239	RREB1	Overfolded helix	HP:0000396
6239	RREB1	Arachnodactyly	HP:0001166
6239	RREB1	Tricuspid atresia	HP:0011662
6239	RREB1	Atelectasis	HP:0100750
6239	RREB1	Schizophrenia	HP:0100753
6239	RREB1	Autoimmunity	HP:0002960
6239	RREB1	Conductive hearing impairment	HP:0000405
6239	RREB1	Abnormality of the tonsils	HP:0100765
6239	RREB1	Carious teeth	HP:0000670
6239	RREB1	Bulbous nose	HP:0000414
6239	RREB1	Narrow mouth	HP:0000160
6239	RREB1	Immunodeficiency	HP:0002721
6239	RREB1	Feeding difficulties in infancy	HP:0008872
6239	RREB1	Prominent nasal bridge	HP:0000426
6239	RREB1	Abnormality of dental enamel	HP:0000682
6239	RREB1	Wide nasal bridge	HP:0000431
6239	RREB1	Cleft palate	HP:0000175
6239	RREB1	Patellar dislocation	HP:0002999
6239	RREB1	Multiple renal cysts	HP:0005562
6239	RREB1	Gastrointestinal hemorrhage	HP:0002239
6239	RREB1	Choanal atresia	HP:0000453
6239	RREB1	Aganglionic megacolon	HP:0002251
6239	RREB1	Depressivity	HP:0000716
6239	RREB1	Autism	HP:0000717
6239	RREB1	Splenomegaly	HP:0001744
6239	RREB1	Purpura	HP:0000979
6239	RREB1	Short neck	HP:0000470
6239	RREB1	Short stature	HP:0004322
6239	RREB1	Seizures	HP:0001250
6239	RREB1	Talipes equinovarus	HP:0001762
6239	RREB1	Constipation	HP:0002019
6239	RREB1	Anxiety	HP:0000739
6239	RREB1	Failure to thrive	HP:0001508
6239	RREB1	Gastroesophageal reflux	HP:0002020
6239	RREB1	Muscular hypotonia	HP:0001252
6239	RREB1	Strabismus	HP:0000486
6239	RREB1	Anal atresia	HP:0002023
6239	RREB1	Intrauterine growth retardation	HP:0001511
6239	RREB1	Corneal neovascularization	HP:0011496
6239	RREB1	Intellectual disability, mild	HP:0001256
6239	RREB1	Obesity	HP:0001513
6239	RREB1	Hydrocephalus	HP:0000238
6239	RREB1	Downslanted palpebral fissures	HP:0000494
6239	RREB1	Global developmental delay	HP:0001263
6239	RREB1	Glaucoma	HP:0000501
6239	RREB1	Telecanthus	HP:0000506
6239	RREB1	Ptosis	HP:0000508
6239	RREB1	Microcephaly	HP:0000252
6239	RREB1	Abnormality of the thorax	HP:0000765
6239	RREB1	Myalgia	HP:0003326
30817	ADGRE2	Urticaria	HP:0001025
30817	ADGRE2	Facial erythema	HP:0001041
30817	ADGRE2	Flushing	HP:0031284
30817	ADGRE2	Autosomal dominant inheritance	HP:0000006
6247	RS1	Abnormal electroretinogram	HP:0000512
6247	RS1	Cataract	HP:0000518
6247	RS1	Retinoschisis	HP:0030502
6247	RS1	Mizuo phenomenon	HP:0030824
6247	RS1	Macular atrophy	HP:0007401
6247	RS1	Retinal pigment epithelial atrophy	HP:0007722
6247	RS1	X-linked dominant inheritance	HP:0001423
6247	RS1	Abnormality of eye movement	HP:0000496
6247	RS1	Electronegative electroretinogram	HP:0007984
6247	RS1	Progressive visual loss	HP:0000529
6247	RS1	Retinal atrophy	HP:0001105
6247	RS1	Peripheral cystoid retinal degeneration	HP:0007667
6247	RS1	Glaucoma	HP:0000501
6247	RS1	Abnormality of vision	HP:0000504
6247	RS1	Hypermetropia	HP:0000540
6247	RS1	Retinal detachment	HP:0000541
6247	RS1	Vitreous hemorrhage	HP:0007902
79977	GRHL2	Short stature	HP:0004322
79977	GRHL2	Hyperkeratosis	HP:0000962
79977	GRHL2	Epidermal acanthosis	HP:0025092
79977	GRHL2	Anonychia	HP:0001798
79977	GRHL2	Autosomal dominant inheritance	HP:0000006
79977	GRHL2	Autosomal recessive inheritance	HP:0000007
79977	GRHL2	Reduced visual acuity	HP:0007663
79977	GRHL2	Asthma	HP:0002099
79977	GRHL2	Nail dystrophy	HP:0008404
79977	GRHL2	Sensorineural hearing impairment	HP:0000407
79977	GRHL2	Hypoplasia of dental enamel	HP:0006297
79977	GRHL2	Hypodontia	HP:0000668
79977	GRHL2	Progressive	HP:0003676
79977	GRHL2	Ectopia pupillae	HP:0009918
79977	GRHL2	Dysphagia	HP:0002015
112744	IL17F	Dyspareunia	HP:0030016
112744	IL17F	Hyperkeratosis	HP:0000962
112744	IL17F	Abnormal toenail morphology	HP:0008388
112744	IL17F	Autosomal dominant inheritance	HP:0000006
112744	IL17F	Recurrent urinary tract infections	HP:0000010
112744	IL17F	Abnormal vagina morphology	HP:0000142
112744	IL17F	Abnormal fingernail morphology	HP:0001231
112744	IL17F	Abnormality of temperature regulation	HP:0004370
112744	IL17F	Abnormal endocardium morphology	HP:0004306
112744	IL17F	Hepatitis	HP:0012115
112744	IL17F	Hematuria	HP:0000790
112744	IL17F	Cheilitis	HP:0100825
112744	IL17F	Skin rash	HP:0000988
112744	IL17F	Broad nail	HP:0001821
112744	IL17F	Pruritus	HP:0000989
112744	IL17F	Recurrent respiratory infections	HP:0002205
112744	IL17F	Erythema	HP:0010783
112744	IL17F	Papule	HP:0200034
112744	IL17F	Seizures	HP:0001250
112744	IL17F	Feeding difficulties in infancy	HP:0008872
112744	IL17F	Chronic mucocutaneous candidiasis	HP:0002728
112744	IL17F	Skin ulcer	HP:0200042
112744	IL17F	Abnormality of dental enamel	HP:0000682
112744	IL17F	Abnormality of vision	HP:0000504
112744	IL17F	Hemoptysis	HP:0002105
112744	IL17F	Cough	HP:0012735
6253	RTN2	Muscle spasm	HP:0003394
6253	RTN2	Hyperreflexia	HP:0001347
6253	RTN2	Autosomal dominant inheritance	HP:0000006
6253	RTN2	Degeneration of the lateral corticospinal tracts	HP:0002314
6253	RTN2	Progressive pes cavus	HP:0008075
6253	RTN2	Urinary urgency	HP:0000012
6253	RTN2	Impaired proprioception	HP:0010831
6253	RTN2	Spastic gait	HP:0002064
6253	RTN2	Spinal cord lesion	HP:0100561
6253	RTN2	Urinary incontinence	HP:0000020
6253	RTN2	Limb ataxia	HP:0002070
6253	RTN2	Urinary bladder sphincter dysfunction	HP:0002839
6253	RTN2	Progressive	HP:0003676
6253	RTN2	Babinski sign	HP:0003487
6253	RTN2	Pes cavus	HP:0001761
6253	RTN2	Lower limb amyotrophy	HP:0007210
6253	RTN2	Spastic paraplegia	HP:0001258
6253	RTN2	Progressive spastic paraplegia	HP:0007020
6253	RTN2	Lower limb muscle weakness	HP:0007340
6253	RTN2	Bowel incontinence	HP:0002607
6253	RTN2	Difficulty walking	HP:0002355
6253	RTN2	Male sexual dysfunction	HP:0040307
6253	RTN2	Hyperreflexia in upper limbs	HP:0007350
6253	RTN2	Impaired vibration sensation in the lower limbs	HP:0002166
6253	RTN2	Ankle clonus	HP:0011448
6253	RTN2	Clonus	HP:0002169
6253	RTN2	Knee clonus	HP:0011449
6253	RTN2	Female sexual dysfunction	HP:0030014
79983	POF1B	Premature ovarian insufficiency	HP:0008209
79983	POF1B	Tall stature	HP:0000098
79983	POF1B	Primary amenorrhea	HP:0000786
79983	POF1B	Abnormality of the dentition	HP:0000164
79983	POF1B	Delayed puberty	HP:0000823
79983	POF1B	Osteoporosis	HP:0000939
79983	POF1B	X-linked recessive inheritance	HP:0001419
112752	IFT43	Macrocephaly	HP:0000256
112752	IFT43	Brachydactyly	HP:0001156
112752	IFT43	Short ribs	HP:0000773
112752	IFT43	Narrow chest	HP:0000774
112752	IFT43	Sparse hair	HP:0008070
112752	IFT43	Syndactyly	HP:0001159
112752	IFT43	Autosomal recessive inheritance	HP:0000007
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	Platyspondyly	HP:0000926
112752	IFT43	Epicanthus	HP:0000286
112752	IFT43	Myopia	HP:0000545
112752	IFT43	Postaxial polydactyly	HP:0100259
112752	IFT43	Preaxial polydactyly	HP:0100258
112752	IFT43	Fine hair	HP:0002213
112752	IFT43	Micromelia	HP:0002983
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	Microdontia	HP:0000691
112752	IFT43	High hypermetropia	HP:0008499
112752	IFT43	Hypertelorism	HP:0000316
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	Ventriculomegaly	HP:0002119
112752	IFT43	Ectodermal dysplasia	HP:0000968
112752	IFT43	Rhizomelia	HP:0008905
112752	IFT43	Cutis laxa	HP:0000973
112752	IFT43	Scaphocephaly	HP:0030799
112752	IFT43	Abnormal fingernail morphology	HP:0001231
112752	IFT43	Anteverted nares	HP:0000463
112752	IFT43	Craniosynostosis	HP:0001363
112752	IFT43	Pallor	HP:0000980
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	Thin upper lip vermilion	HP:0000219
112752	IFT43	Micrognathia	HP:0000347
112752	IFT43	Short stature	HP:0004322
112752	IFT43	Vertebral wedging	HP:0008422
112752	IFT43	Hypoplastic ischia	HP:0003175
112752	IFT43	Everted lower lip vermilion	HP:0000232
112752	IFT43	Peripheral pulmonary artery stenosis	HP:0004969
112752	IFT43	Joint laxity	HP:0001388
112752	IFT43	Hydrocephalus	HP:0000238
112752	IFT43	Polycystic kidney dysplasia	HP:0000113
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
112755	STX1B	Focal impaired awareness seizure	HP:0002384
112755	STX1B	Atonic seizures	HP:0010819
112755	STX1B	Variable expressivity	HP:0003828
112755	STX1B	Generalized tonic-clonic seizures	HP:0002069
112755	STX1B	Febrile seizures	HP:0002373
112755	STX1B	Autosomal dominant inheritance	HP:0000006
112755	STX1B	Absence seizure	HP:0002121
112755	STX1B	Global developmental delay	HP:0001263
6261	RYR1	Bulbar palsy	HP:0001283
6261	RYR1	Areflexia	HP:0001284
6261	RYR1	Sternocleidomastoid amyotrophy	HP:0012036
6261	RYR1	Internally nucleated skeletal muscle fibers	HP:0031237
6261	RYR1	Autosomal dominant inheritance	HP:0000006
6261	RYR1	Autosomal recessive inheritance	HP:0000007
6261	RYR1	Gait disturbance	HP:0001288
6261	RYR1	Infantile onset	HP:0003593
6261	RYR1	Generalized hypotonia	HP:0001290
6261	RYR1	Myopathic facies	HP:0002058
6261	RYR1	Multiple joint contractures	HP:0002828
6261	RYR1	Dolichocephaly	HP:0000268
6261	RYR1	Rigidity	HP:0002063
6261	RYR1	Necrotizing myopathy	HP:0008978
6261	RYR1	Narrow face	HP:0000275
6261	RYR1	Long face	HP:0000276
6261	RYR1	Urinary incontinence	HP:0000020
6261	RYR1	Calf muscle hypertrophy	HP:0008981
6261	RYR1	Retrognathia	HP:0000278
6261	RYR1	Decreased fetal movement	HP:0001558
6261	RYR1	Central core regions in muscle fibers	HP:0030230
6261	RYR1	Cavernous hemangioma	HP:0001048
6261	RYR1	Polyhydramnios	HP:0001561
6261	RYR1	Ventricular extrasystoles	HP:0006682
6261	RYR1	Cryptorchidism	HP:0000028
6261	RYR1	Epicanthus	HP:0000286
6261	RYR1	Type 1 muscle fiber atrophy	HP:0011807
6261	RYR1	External ophthalmoplegia	HP:0000544
6261	RYR1	Proximal muscle weakness in lower limbs	HP:0008994
6261	RYR1	Proximal muscle weakness in upper limbs	HP:0008997
6261	RYR1	Neonatal hypotonia	HP:0001319
6261	RYR1	Neonatal onset	HP:0003623
6261	RYR1	Pulmonary hypoplasia	HP:0002089
6261	RYR1	Pneumonia	HP:0002090
6261	RYR1	Respiratory insufficiency	HP:0002093
6261	RYR1	Scrotal hypoplasia	HP:0000046
6261	RYR1	Thickened skin	HP:0001072
6261	RYR1	Limb joint contracture	HP:0003121
6261	RYR1	Muscle fibrillation	HP:0010546
6261	RYR1	Difficulty walking	HP:0002355
6261	RYR1	Tented upper lip vermilion	HP:0010804
6261	RYR1	Micropenis	HP:0000054
6261	RYR1	Hypotension	HP:0002615
6261	RYR1	Joint hyperflexibility	HP:0005692
6261	RYR1	Easy fatigability	HP:0003388
6261	RYR1	Hypertelorism	HP:0000316
6261	RYR1	Respiratory failure	HP:0002878
6261	RYR1	Gowers sign	HP:0003391
6261	RYR1	Increased connective tissue	HP:0009025
6261	RYR1	Facial diplegia	HP:0001349
6261	RYR1	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
6261	RYR1	Weak cry	HP:0001612
6261	RYR1	Fasciculations	HP:0002380
6261	RYR1	Mixed respiratory and metabolic acidosis	HP:0005967
6261	RYR1	Dysphonia	HP:0001618
6261	RYR1	Neonatal respiratory distress	HP:0002643
6261	RYR1	Narrow forehead	HP:0000341
6261	RYR1	Exercise-induced rhabdomyolysis	HP:0009045
6261	RYR1	Difficulty running	HP:0009046
6261	RYR1	Cardiomyocyte mitochondrial proliferation	HP:0031320
6261	RYR1	Hyperphosphatemia	HP:0002905
6261	RYR1	Ophthalmoplegia	HP:0000602
6261	RYR1	Scoliosis	HP:0002650
6261	RYR1	Flexion contracture	HP:0001371
6261	RYR1	Slow progression	HP:0003677
6261	RYR1	Congenital hip dislocation	HP:0001374
6261	RYR1	Nonprogressive	HP:0003680
6261	RYR1	Myoglobinuria	HP:0002913
6261	RYR1	Mitral valve prolapse	HP:0001634
6261	RYR1	Abnormality of skeletal muscles	HP:0040290
6261	RYR1	Infantile axial hypotonia	HP:0009062
6261	RYR1	Centrally nucleated skeletal muscle fibers	HP:0003687
6261	RYR1	Hyporeflexia of upper limbs	HP:0012391
6261	RYR1	Hyperkalemia	HP:0002153
6261	RYR1	Scapular winging	HP:0003691
6261	RYR1	Dilated cardiomyopathy	HP:0001644
6261	RYR1	Joint laxity	HP:0001388
6261	RYR1	Knee dislocation	HP:0004976
6261	RYR1	Tachycardia	HP:0001649
6261	RYR1	Thin ribs	HP:0000883
6261	RYR1	Generalized amyotrophy	HP:0003700
6261	RYR1	Proximal muscle weakness	HP:0003701
6261	RYR1	Abnormal heart valve morphology	HP:0001654
6261	RYR1	Lumbar hyperlordosis	HP:0002938
6261	RYR1	Myopathy	HP:0003198
6261	RYR1	Acute kidney injury	HP:0001919
6261	RYR1	Hypercapnia	HP:0012416
6261	RYR1	Rhabdomyolysis	HP:0003201
6261	RYR1	EMG: myopathic abnormalities	HP:0003458
6261	RYR1	Skeletal muscle atrophy	HP:0003202
6261	RYR1	Facial palsy	HP:0010628
6261	RYR1	Tibialis atrophy	HP:0011399
6261	RYR1	Macrocephaly at birth	HP:0004488
6261	RYR1	Recurrent patellar dislocation	HP:0005001
6261	RYR1	Elevated creatine kinase after exercise	HP:0008331
6261	RYR1	Fatigable weakness	HP:0003473
6261	RYR1	Heterogeneous	HP:0001425
6261	RYR1	Delayed gross motor development	HP:0002194
6261	RYR1	Severe postnatal growth retardation	HP:0008850
6261	RYR1	Supraventricular tachycardia	HP:0004755
6261	RYR1	Spontaneous abortion	HP:0005268
6261	RYR1	Ventricular tachycardia	HP:0004756
6261	RYR1	Peripheral axonal neuropathy	HP:0003477
6261	RYR1	Metabolic acidosis	HP:0001942
6261	RYR1	Fever	HP:0001945
6261	RYR1	Exercise-induced myalgia	HP:0003738
6261	RYR1	Acute hepatic failure	HP:0006554
6261	RYR1	Protruding ear	HP:0000411
6261	RYR1	Abnormality of the foot musculature	HP:0001436
6261	RYR1	Recurrent respiratory infections	HP:0002205
6261	RYR1	Narrow mouth	HP:0000160
6261	RYR1	Frog-leg posture	HP:0031139
6261	RYR1	Elevated serum creatine kinase	HP:0003236
6261	RYR1	Pelvic girdle muscle weakness	HP:0003749
6261	RYR1	Feeding difficulties in infancy	HP:0008872
6261	RYR1	Type 1 fibers relatively smaller than type 2 fibers	HP:0003755
6261	RYR1	Wide nasal bridge	HP:0000431
6261	RYR1	Left ventricular hypertrophy	HP:0001712
6261	RYR1	Bulbar signs	HP:0002483
6261	RYR1	Abnormality of the coagulation cascade	HP:0003256
6261	RYR1	High-output congestive heart failure	HP:0001722
6261	RYR1	Respiratory insufficiency due to muscle weakness	HP:0002747
6261	RYR1	Intermittent painful muscle spasms	HP:0011964
6261	RYR1	Kyphoscoliosis	HP:0002751
6261	RYR1	Feeding difficulties	HP:0011968
6261	RYR1	Bifid uvula	HP:0000193
6261	RYR1	Muscle fiber hypertrophy	HP:0100293
6261	RYR1	Fetal akinesia sequence	HP:0001989
6261	RYR1	Long fingers	HP:0100807
6261	RYR1	Hip contracture	HP:0003273
6261	RYR1	Edema	HP:0000969
6261	RYR1	Type 1 and type 2 muscle fiber minicore regions	HP:0003787
6261	RYR1	Minicore myopathy	HP:0003789
6261	RYR1	Waddling gait	HP:0002515
6261	RYR1	Prominent forehead	HP:0011220
6261	RYR1	Nemaline bodies	HP:0003798
6261	RYR1	High palate	HP:0000218
6261	RYR1	Areflexia of lower limbs	HP:0002522
6261	RYR1	Type 1 muscle fiber predominance	HP:0003803
6261	RYR1	Shoulder girdle muscle weakness	HP:0003547
6261	RYR1	Difficulty climbing stairs	HP:0003551
6261	RYR1	Dysphagia	HP:0002015
6261	RYR1	Neonatal asphyxia	HP:0012768
6261	RYR1	Muscle stiffness	HP:0003552
6261	RYR1	Pes cavus	HP:0001761
6261	RYR1	Talipes equinovarus	HP:0001762
6261	RYR1	Pes planus	HP:0001763
6261	RYR1	Failure to thrive	HP:0001508
6261	RYR1	Muscular hypotonia	HP:0001252
6261	RYR1	Pyloric stenosis	HP:0002021
6261	RYR1	Increased variability in muscle fiber diameter	HP:0003557
6261	RYR1	Tachypnea	HP:0002789
6261	RYR1	Lethargy	HP:0001254
6261	RYR1	Intellectual disability, mild	HP:0001256
6261	RYR1	Muscular dystrophy	HP:0003560
6261	RYR1	Abnormality of masseter muscle	HP:3000005
6261	RYR1	Hyperlordosis	HP:0003307
6261	RYR1	Functional respiratory abnormality	HP:0002795
6261	RYR1	Dysarthria	HP:0001260
6261	RYR1	Delayed speech and language development	HP:0000750
6261	RYR1	Acute rhabdomyolysis	HP:0008942
6261	RYR1	Large for gestational age	HP:0001520
6261	RYR1	Hyporeflexia	HP:0001265
6261	RYR1	Variable expressivity	HP:0003828
6261	RYR1	Mildly elevated creatine kinase	HP:0008180
6261	RYR1	Motor delay	HP:0001270
6261	RYR1	Congenital onset	HP:0003577
6261	RYR1	Intrinsic hand muscle atrophy	HP:0008954
6261	RYR1	Progressive muscle weakness	HP:0003323
6261	RYR1	Generalized muscle weakness	HP:0003324
6261	RYR1	Ptosis	HP:0000508
6261	RYR1	Hydrops fetalis	HP:0001789
6261	RYR1	Axial muscle weakness	HP:0003327
6261	RYR1	Distal upper limb muscle weakness	HP:0008959
6261	RYR1	Malignant hyperthermia	HP:0002047
6261	RYR1	Rectus femoris muscle atrophy	HP:0040191
440435	GPR179	Myopia	HP:0000545
440435	GPR179	Abnormality of macular pigmentation	HP:0008002
440435	GPR179	Strabismus	HP:0000486
440435	GPR179	Optic disc hypoplasia	HP:0007766
440435	GPR179	Nyctalopia	HP:0000662
440435	GPR179	Autosomal recessive inheritance	HP:0000007
440435	GPR179	Congenital stationary night blindness	HP:0007642
440435	GPR179	X-linked recessive inheritance	HP:0001419
440435	GPR179	High myopia	HP:0011003
440435	GPR179	Nystagmus	HP:0000639
440435	GPR179	Reduced visual acuity	HP:0007663
6262	RYR2	Seizures	HP:0001250
6262	RYR2	Sudden death	HP:0001699
6262	RYR2	Autosomal dominant inheritance	HP:0000006
6262	RYR2	Atrial standstill	HP:0025478
6262	RYR2	Dilatation of the ventricular cavity	HP:0006698
6262	RYR2	Left ventricular dysfunction	HP:0005162
6262	RYR2	Sudden cardiac death	HP:0001645
6262	RYR2	Right ventricular cardiomyopathy	HP:0011663
6262	RYR2	Vertigo	HP:0002321
6262	RYR2	Ventricular arrhythmia	HP:0004308
6262	RYR2	Ventricular tachycardia	HP:0004756
6262	RYR2	Effort-induced polymorphic ventricular tachycardia	HP:0004758
6262	RYR2	Atrial fibrillation	HP:0005110
6262	RYR2	Syncope	HP:0001279
79991	STN1	Portal hypertension	HP:0001409
79991	STN1	Ataxia	HP:0001251
79991	STN1	Gastroesophageal reflux	HP:0002020
79991	STN1	Autosomal recessive inheritance	HP:0000007
79991	STN1	Intrauterine growth retardation	HP:0001511
79991	STN1	Premature graying of hair	HP:0002216
79991	STN1	Spasticity	HP:0001257
79991	STN1	Osteopenia	HP:0000938
79991	STN1	Pulmonary insufficiency	HP:0010444
79991	STN1	Crackles	HP:0030830
79991	STN1	Reticular pattern on pulmonary HRCT	HP:0025390
79991	STN1	Retinal telangiectasia	HP:0007763
79991	STN1	Pancytopenia	HP:0001876
79991	STN1	Dystonia	HP:0001332
79991	STN1	Clubbing of fingers	HP:0100759
79991	STN1	Honeycomb lung	HP:0025175
79991	STN1	Esophageal varix	HP:0002040
79991	STN1	Ground-glass opacification on pulmonary HRCT	HP:0025179
79991	STN1	Exertional dyspnea	HP:0002875
79991	STN1	Pulmonary fibrosis	HP:0002206
79991	STN1	Bronchiectasis	HP:0002110
79991	STN1	Gastrointestinal hemorrhage	HP:0002239
79991	STN1	Cough	HP:0012735
80000	GREB1L	Sirenomelia	HP:0010497
80000	GREB1L	Abnormal intestine morphology	HP:0002242
80000	GREB1L	Abnormality of the uterus	HP:0000130
80000	GREB1L	Multicystic kidney dysplasia	HP:0000003
80000	GREB1L	Autosomal dominant inheritance	HP:0000006
80000	GREB1L	Abnormality of female internal genitalia	HP:0000008
80000	GREB1L	Depressed nasal ridge	HP:0000457
80000	GREB1L	Tracheoesophageal fistula	HP:0002575
80000	GREB1L	Horseshoe kidney	HP:0000085
80000	GREB1L	Abnormality of cardiovascular system morphology	HP:0030680
80000	GREB1L	Oligohydramnios	HP:0001562
80000	GREB1L	Fetal polyuria	HP:0001563
80000	GREB1L	Epicanthus	HP:0000286
80000	GREB1L	Nonketotic hypoglycemia	HP:0001958
80000	GREB1L	Renal agenesis	HP:0000104
80000	GREB1L	Pulmonary hypoplasia	HP:0002089
80000	GREB1L	Urogenital fistula	HP:0100589
80000	GREB1L	Non-midline cleft lip	HP:0100335
80000	GREB1L	Renal dysplasia	HP:0000110
80000	GREB1L	Cleft palate	HP:0000175
80000	GREB1L	Low-set ears	HP:0000369
80000	GREB1L	Abnormal sacrum morphology	HP:0005107
80000	GREB1L	Incomplete penetrance	HP:0003829
80000	GREB1L	Congenital onset	HP:0003577
80000	GREB1L	Hypertelorism	HP:0000316
80000	GREB1L	Hydronephrosis	HP:0000126
6288	SAA1	Hepatomegaly	HP:0002240
6288	SAA1	Nausea	HP:0002018
6288	SAA1	Nephrotic syndrome	HP:0000100
6288	SAA1	Malabsorption	HP:0002024
6288	SAA1	Venous thrombosis	HP:0004936
6288	SAA1	Enlarged kidney	HP:0000105
6288	SAA1	Malnutrition	HP:0004395
6288	SAA1	Abdominal pain	HP:0002027
6288	SAA1	Chronic diarrhea	HP:0002028
6288	SAA1	Chronic kidney disease	HP:0012622
6288	SAA1	Adrenal insufficiency	HP:0000846
6288	SAA1	Nephropathy	HP:0000112
6288	SAA1	Cholestasis	HP:0001396
6288	SAA1	Hypothyroidism	HP:0000821
6288	SAA1	Abnormal oral mucosa morphology	HP:0011830
6288	SAA1	Hypotension	HP:0002615
6288	SAA1	Abnormal heart morphology	HP:0001627
6288	SAA1	Proteinuria	HP:0000093
6288	SAA1	Renal amyloidosis	HP:0001917
6288	SAA1	Vomiting	HP:0002013
6288	SAA1	Acute kidney injury	HP:0001919
219285	SAMD9L	Aplasia/Hypoplasia of the cerebellum	HP:0007360
219285	SAMD9L	Hyperreflexia	HP:0001347
219285	SAMD9L	Abnormality of the cerebral white matter	HP:0002500
219285	SAMD9L	Autosomal dominant inheritance	HP:0000006
219285	SAMD9L	Unsteady gait	HP:0002317
219285	SAMD9L	Splenomegaly	HP:0001744
219285	SAMD9L	Hyperactive deep tendon reflexes	HP:0006801
219285	SAMD9L	Abnormality of neutrophils	HP:0001874
219285	SAMD9L	Pancytopenia	HP:0001876
219285	SAMD9L	Acute myelomonocytic leukemia	HP:0004820
219285	SAMD9L	Abnormal macrophage morphology	HP:0004311
219285	SAMD9L	Decreased antibody level in blood	HP:0004313
219285	SAMD9L	Abnormal platelet function	HP:0011869
219285	SAMD9L	Recurrent respiratory infections	HP:0002205
219285	SAMD9L	Dysmetria	HP:0001310
219285	SAMD9L	Babinski sign	HP:0003487
219285	SAMD9L	Ataxia	HP:0001251
219285	SAMD9L	Dysarthria	HP:0001260
219285	SAMD9L	Hypoplastic anemia	HP:0001908
219285	SAMD9L	Variable expressivity	HP:0003828
219285	SAMD9L	Impaired vibration sensation in the lower limbs	HP:0002166
219285	SAMD9L	Neurological speech impairment	HP:0002167
219285	SAMD9L	Cerebellar atrophy	HP:0001272
219285	SAMD9L	Distal sensory impairment	HP:0002936
219285	SAMD9L	Ankle clonus	HP:0011448
219285	SAMD9L	Decreased nerve conduction velocity	HP:0000762
219285	SAMD9L	Microcephaly	HP:0000252
219285	SAMD9L	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	Ophthalmoplegia	HP:0000602
6295	SAG	Type II diabetes mellitus	HP:0005978
6295	SAG	Atypical scarring of skin	HP:0000987
6295	SAG	Hypoplasia of penis	HP:0008736
6295	SAG	Intellectual disability	HP:0001249
6295	SAG	Abnormal testis morphology	HP:0000035
6295	SAG	Photophobia	HP:0000613
6295	SAG	Strabismus	HP:0000486
6295	SAG	Obesity	HP:0001513
6295	SAG	Blindness	HP:0000618
6295	SAG	Abnormal retinal vascular morphology	HP:0008046
6295	SAG	Wide nasal bridge	HP:0000431
6295	SAG	Reduced visual acuity	HP:0007663
6295	SAG	Keratoconus	HP:0000563
6295	SAG	Glaucoma	HP:0000501
6295	SAG	Visual impairment	HP:0000505
6295	SAG	Progressive night blindness	HP:0007675
6295	SAG	High myopia	HP:0011003
6295	SAG	Rod-cone dystrophy	HP:0000510
6295	SAG	Nystagmus	HP:0000639
80025	PANK2	Akinesia	HP:0002304
80025	PANK2	Blepharospasm	HP:0000643
80025	PANK2	Opisthotonus	HP:0002179
80025	PANK2	Iron accumulation in brain	HP:0012675
80025	PANK2	Neurodegeneration	HP:0002180
80025	PANK2	Orofacial dyskinesia	HP:0002310
80025	PANK2	Autosomal recessive inheritance	HP:0000007
80025	PANK2	Acanthocytosis	HP:0001927
80025	PANK2	Optic atrophy	HP:0000648
80025	PANK2	Gait disturbance	HP:0001288
80025	PANK2	Clumsiness	HP:0002312
80025	PANK2	Inertia	HP:0030216
80025	PANK2	Rigidity	HP:0002063
80025	PANK2	Oromandibular dystonia	HP:0012048
80025	PANK2	Cerebral degeneration	HP:0007313
80025	PANK2	Facial grimacing	HP:0000273
80025	PANK2	Eyelid apraxia	HP:0000658
80025	PANK2	Bradykinesia	HP:0002067
80025	PANK2	Limb dystonia	HP:0002451
80025	PANK2	Toe walking	HP:0040083
80025	PANK2	Parkinsonism	HP:0001300
80025	PANK2	Urinary incontinence	HP:0000020
80025	PANK2	Eye of the tiger anomaly of globus pallidus	HP:0002454
80025	PANK2	Chorea	HP:0002072
80025	PANK2	Generalized dystonia	HP:0007325
80025	PANK2	Abnormality of the tongue	HP:0000157
80025	PANK2	Optic disc pallor	HP:0000543
80025	PANK2	Weight loss	HP:0001824
80025	PANK2	Retinal degeneration	HP:0000546
80025	PANK2	Juvenile onset	HP:0003621
80025	PANK2	Feeding difficulties in infancy	HP:0008872
80025	PANK2	Mask-like facies	HP:0000298
80025	PANK2	Aspiration pneumonia	HP:0011951
80025	PANK2	Dystonia	HP:0001332
80025	PANK2	Frequent falls	HP:0002359
80025	PANK2	Violent behavior	HP:0008760
80025	PANK2	Hyperpigmentation of the skin	HP:0000953
80025	PANK2	Tremor	HP:0001337
80025	PANK2	Tongue atrophy	HP:0012473
80025	PANK2	Cognitive impairment	HP:0100543
80025	PANK2	Cough	HP:0012735
80025	PANK2	Obsessive-compulsive trait	HP:0008770
80025	PANK2	Motor tics	HP:0100034
80025	PANK2	Hyperreflexia	HP:0001347
80025	PANK2	Pigmentary retinopathy	HP:0000580
80025	PANK2	Psychosis	HP:0000709
80025	PANK2	Palilalia	HP:0031814
80025	PANK2	Emotional lability	HP:0000712
80025	PANK2	Depressivity	HP:0000716
80025	PANK2	Dysphonia	HP:0001618
80025	PANK2	Obsessive-compulsive behavior	HP:0000722
80025	PANK2	Dementia	HP:0000726
80025	PANK2	Abnormal pyramidal sign	HP:0007256
80025	PANK2	Pallidal degeneration	HP:0007132
80025	PANK2	Slow progression	HP:0003677
80025	PANK2	Rapidly progressive	HP:0003678
80025	PANK2	Dysphagia	HP:0002015
80025	PANK2	Abnormality of the foot	HP:0001760
80025	PANK2	Muscle stiffness	HP:0003552
80025	PANK2	Irritability	HP:0000737
80025	PANK2	Seizures	HP:0001250
80025	PANK2	Ataxia	HP:0001251
80025	PANK2	Increased susceptibility to fractures	HP:0002659
80025	PANK2	Abnormal posturing	HP:0002533
80025	PANK2	Impulsivity	HP:0100710
80025	PANK2	Retinopathy	HP:0000488
80025	PANK2	Spasticity	HP:0001257
80025	PANK2	Blindness	HP:0000618
80025	PANK2	Attention deficit hyperactivity disorder	HP:0007018
80025	PANK2	Global brain atrophy	HP:0002283
80025	PANK2	Decreased LDL cholesterol concentration	HP:0003563
80025	PANK2	Dysarthria	HP:0001260
80025	PANK2	Inability to walk	HP:0002540
80025	PANK2	Global developmental delay	HP:0001263
80025	PANK2	Hyperactivity	HP:0000752
80025	PANK2	Choreoathetosis	HP:0001266
80025	PANK2	Myopathy	HP:0003198
80025	PANK2	Rod-cone dystrophy	HP:0000510
80025	PANK2	Decreased muscle mass	HP:0003199
6297	SALL2	Exotropia	HP:0000577
6297	SALL2	Hypertropia	HP:0025586
6297	SALL2	Esotropia	HP:0000565
6297	SALL2	Cataract	HP:0000518
6297	SALL2	Autosomal recessive inheritance	HP:0000007
6297	SALL2	Lens subluxation	HP:0001132
6297	SALL2	Coloboma	HP:0000589
6297	SALL2	Nystagmus	HP:0000639
6297	SALL2	Reduced visual acuity	HP:0007663
6299	SALL1	Preauricular skin tag	HP:0000384
6299	SALL1	Umbilical hernia	HP:0001537
6299	SALL1	Abnormality of the uterus	HP:0000130
6299	SALL1	Multicystic kidney dysplasia	HP:0000003
6299	SALL1	Abnormality of the ribs	HP:0000772
6299	SALL1	Arnold-Chiari malformation	HP:0002308
6299	SALL1	Cataract	HP:0000518
6299	SALL1	Autosomal dominant inheritance	HP:0000006
6299	SALL1	Bifid uterus	HP:0000136
6299	SALL1	Anteriorly placed anus	HP:0001545
6299	SALL1	Abnormal vertebral morphology	HP:0003468
6299	SALL1	Overfolded helix	HP:0000396
6299	SALL1	Rectovaginal fistula	HP:0000143
6299	SALL1	Macrotia	HP:0000400
6299	SALL1	Sensorineural hearing impairment	HP:0000407
6299	SALL1	Preaxial hand polydactyly	HP:0001177
6299	SALL1	Wide mouth	HP:0000154
6299	SALL1	Cryptorchidism	HP:0000028
6299	SALL1	Hypoplasia of penis	HP:0008736
6299	SALL1	Metatarsal synostosis	HP:0001440
6299	SALL1	Pseudoepiphyses of second metacarpal	HP:0006179
6299	SALL1	Broad thumb	HP:0011304
6299	SALL1	Cranial nerve paralysis	HP:0006824
6299	SALL1	Stahl ear	HP:0100015
6299	SALL1	Hypospadias	HP:0000047
6299	SALL1	Triphalangeal thumb	HP:0001199
6299	SALL1	Bowel incontinence	HP:0002607
6299	SALL1	Bifid scrotum	HP:0000048
6299	SALL1	3-4 toe syndactyly	HP:0009779
6299	SALL1	Hypothyroidism	HP:0000821
6299	SALL1	Chorioretinal coloboma	HP:0000567
6299	SALL1	Delayed puberty	HP:0000823
6299	SALL1	Rectoperineal fistula	HP:0004792
6299	SALL1	Microphthalmia	HP:0000568
6299	SALL1	Abnormality of the tragus	HP:0009912
6299	SALL1	Multiple renal cysts	HP:0005562
6299	SALL1	Duane anomaly	HP:0009921
6299	SALL1	Facial asymmetry	HP:0000324
6299	SALL1	Blepharophimosis	HP:0000581
6299	SALL1	Toe clinodactyly	HP:0001863
6299	SALL1	Duodenal atresia	HP:0002247
6299	SALL1	Clinodactyly of the 5th toe	HP:0001864
6299	SALL1	Subcutaneous nodule	HP:0001482
6299	SALL1	Broad hallux phalanx	HP:0010059
6299	SALL1	Vesicoureteral reflux	HP:0000076
6299	SALL1	Lower limb asymmetry	HP:0100559
6299	SALL1	3-4 finger syndactyly	HP:0006097
6299	SALL1	Renal insufficiency	HP:0000083
6299	SALL1	2-3 toe syndactyly	HP:0004691
6299	SALL1	Satyr ear	HP:0030676
6299	SALL1	2-4 finger syndactyly	HP:0010709
6299	SALL1	Ectopic kidney	HP:0000086
6299	SALL1	Partial duplication of thumb phalanx	HP:0009944
6299	SALL1	Renal hypoplasia	HP:0000089
6299	SALL1	Aplasia/Hypoplasia of the 3rd toe	HP:0010331
6299	SALL1	Ventricular septal defect	HP:0001629
6299	SALL1	Atrial septal defect	HP:0001631
6299	SALL1	Intellectual disability	HP:0001249
6299	SALL1	Short stature	HP:0004322
6299	SALL1	Constipation	HP:0002019
6299	SALL1	Pes planus	HP:0001763
6299	SALL1	Tetralogy of Fallot	HP:0001636
6299	SALL1	Iris coloboma	HP:0000612
6299	SALL1	Failure to thrive	HP:0001508
6299	SALL1	Gastroesophageal reflux	HP:0002020
6299	SALL1	Overfolding of the superior helices	HP:0004453
6299	SALL1	Strabismus	HP:0000486
6299	SALL1	Anal atresia	HP:0002023
6299	SALL1	Microtia	HP:0008551
6299	SALL1	Abnormal pulmonary valve morphology	HP:0001641
6299	SALL1	Anal stenosis	HP:0002025
6299	SALL1	Toe syndactyly	HP:0001770
6299	SALL1	Patent ductus arteriosus	HP:0001643
6299	SALL1	Hearing impairment	HP:0000365
6299	SALL1	Renal dysplasia	HP:0000110
6299	SALL1	Global developmental delay	HP:0001263
6299	SALL1	Urethral valve	HP:0010481
6299	SALL1	Clinodactyly of the 5th finger	HP:0004209
6299	SALL1	Preauricular pit	HP:0004467
6299	SALL1	Limbal dermoid	HP:0001140
6299	SALL1	Short metatarsal	HP:0010743
6299	SALL1	Abnormality of vision	HP:0000504
6299	SALL1	Ulnar deviation of finger	HP:0009465
6299	SALL1	Agenesis of corpus callosum	HP:0001274
6299	SALL1	External ear malformation	HP:0008572
6299	SALL1	Microcephaly	HP:0000252
6301	SARS	Seizures	HP:0001250
6301	SARS	Ataxia	HP:0001251
6301	SARS	Intellectual disability, moderate	HP:0002342
6301	SARS	Global developmental delay	HP:0001263
6305	SBF1	Intellectual disability	HP:0001249
6305	SBF1	Pes planus	HP:0001763
6305	SBF1	Areflexia	HP:0001284
6305	SBF1	Strabismus	HP:0000486
6305	SBF1	Autosomal recessive inheritance	HP:0000007
6305	SBF1	Syndactyly	HP:0001159
6305	SBF1	Gait disturbance	HP:0001288
6305	SBF1	Limb muscle weakness	HP:0003690
6305	SBF1	Urinary incontinence	HP:0000020
6305	SBF1	Onion bulb formation	HP:0003383
6305	SBF1	Distal sensory impairment	HP:0002936
6305	SBF1	Scoliosis	HP:0002650
6305	SBF1	Ophthalmoplegia	HP:0000602
6305	SBF1	Decreased nerve conduction velocity	HP:0000762
6305	SBF1	Brain atrophy	HP:0012444
6305	SBF1	Progressive	HP:0003676
6305	SBF1	Microcephaly	HP:0000252
6307	MSMO1	Ichthyosis	HP:0008064
6307	MSMO1	Short stature	HP:0004322
6307	MSMO1	Failure to thrive	HP:0001508
6307	MSMO1	Developmental cataract	HP:0000519
6307	MSMO1	Autosomal recessive inheritance	HP:0000007
6307	MSMO1	Intellectual disability, mild	HP:0001256
6307	MSMO1	Hypocholesterolemia	HP:0003146
6307	MSMO1	Decreased LDL cholesterol concentration	HP:0003563
6307	MSMO1	Arthralgia	HP:0002829
6307	MSMO1	Global developmental delay	HP:0001263
6307	MSMO1	Blepharitis	HP:0000498
6307	MSMO1	Psoriasiform dermatitis	HP:0003765
6307	MSMO1	Delayed puberty	HP:0000823
6307	MSMO1	Microcephaly	HP:0000252
6307	MSMO1	Delayed skeletal maturation	HP:0002750
112802	KRT71	Fine hair	HP:0002213
112802	KRT71	Sparse hair	HP:0008070
112802	KRT71	Autosomal dominant inheritance	HP:0000006
112802	KRT71	Strabismus	HP:0000486
112802	KRT71	Cataract	HP:0000518
112802	KRT71	Abnormal pupil morphology	HP:0000615
112802	KRT71	Slow-growing hair	HP:0002217
112802	KRT71	Hypotrichosis	HP:0001006
112802	KRT71	Woolly hair	HP:0002224
112802	KRT71	Sparse and thin eyebrow	HP:0000535
112802	KRT71	Sparse body hair	HP:0002231
112802	KRT71	Sparse lateral eyebrow	HP:0005338
112802	KRT71	Brittle hair	HP:0002299
112802	KRT71	Hypopigmentation of hair	HP:0005599
112802	KRT71	Abnormal retinal morphology	HP:0000479
6309	SC5D	Meningocele	HP:0002435
6309	SC5D	Arnold-Chiari malformation	HP:0002308
6309	SC5D	Cataract	HP:0000518
6309	SC5D	Autosomal recessive inheritance	HP:0000007
6309	SC5D	Acanthocytosis	HP:0001927
6309	SC5D	Postaxial hand polydactyly	HP:0001162
6309	SC5D	Generalized hypotonia	HP:0001290
6309	SC5D	Cerebral atrophy	HP:0002059
6309	SC5D	Conductive hearing impairment	HP:0000405
6309	SC5D	Hepatosplenomegaly	HP:0001433
6309	SC5D	Foam cells with lamellar inclusion bodies	HP:0003609
6309	SC5D	Downturned corners of mouth	HP:0002714
6309	SC5D	Epicanthus	HP:0000286
6309	SC5D	Bulbous nose	HP:0000414
6309	SC5D	Hypoplasia of penis	HP:0008736
6309	SC5D	Ambiguous genitalia, male	HP:0000033
6309	SC5D	Abnormal circulating cholesterol concentration	HP:0003107
6309	SC5D	Full cheeks	HP:0000293
6309	SC5D	Postaxial foot polydactyly	HP:0001830
6309	SC5D	Osteoporosis	HP:0000939
6309	SC5D	Myelomeningocele	HP:0002475
6309	SC5D	Wide nasal bridge	HP:0000431
6309	SC5D	Specific learning disability	HP:0001328
6309	SC5D	Myoclonus	HP:0001336
6309	SC5D	Schistocytosis	HP:0001981
6309	SC5D	Hepatomegaly	HP:0002240
6309	SC5D	Pathologic fracture	HP:0002756
6309	SC5D	Biparietal narrowing	HP:0004422
6309	SC5D	Lumbosacral meningocele	HP:0200133
6309	SC5D	Anteverted nares	HP:0000463
6309	SC5D	Opacification of the corneal stroma	HP:0007759
6309	SC5D	Thrombocytopenia	HP:0001873
6309	SC5D	Cerebral calcification	HP:0002514
6309	SC5D	Elevated alkaline phosphatase	HP:0003155
6309	SC5D	Gingival overgrowth	HP:0000212
6309	SC5D	Sloping forehead	HP:0000340
6309	SC5D	Narrow forehead	HP:0000341
6309	SC5D	Horseshoe kidney	HP:0000085
6309	SC5D	Cerebellar cortical atrophy	HP:0008278
6309	SC5D	Long philtrum	HP:0000343
6309	SC5D	Anisopoikilocytosis	HP:0004823
6309	SC5D	Thick upper lip vermilion	HP:0000215
6309	SC5D	Hyperbilirubinemia	HP:0002904
6309	SC5D	High palate	HP:0000218
6309	SC5D	Micrognathia	HP:0000347
6309	SC5D	Talipes	HP:0001883
6309	SC5D	Elevated hepatic transaminase	HP:0002910
6309	SC5D	Intellectual disability	HP:0001249
6309	SC5D	Seizures	HP:0001250
6309	SC5D	Microcornea	HP:0000482
6309	SC5D	Talipes equinovarus	HP:0001762
6309	SC5D	Abnormal platelet morphology	HP:0011875
6309	SC5D	Failure to thrive	HP:0001508
6309	SC5D	Muscular hypotonia	HP:0001252
6309	SC5D	Increased mean platelet volume	HP:0011877
6309	SC5D	Abnormality of the thoracic spine	HP:0100711
6309	SC5D	Growth delay	HP:0001510
6309	SC5D	Intrauterine growth retardation	HP:0001511
6309	SC5D	Bilobate gallbladder	HP:0005608
6309	SC5D	Thin vermilion border	HP:0000233
6309	SC5D	Toe syndactyly	HP:0001770
6309	SC5D	Hearing impairment	HP:0000365
6309	SC5D	Downslanted palpebral fissures	HP:0000494
6309	SC5D	Prominent metopic ridge	HP:0005487
6309	SC5D	Global developmental delay	HP:0001263
6309	SC5D	Butterfly vertebrae	HP:0003316
6309	SC5D	Hepatic failure	HP:0001399
6309	SC5D	Microcephaly	HP:0000252
6309	SC5D	Ptosis	HP:0000508
6309	SC5D	Short nose	HP:0003196
6309	SC5D	Intrahepatic cholestasis	HP:0001406
6310	ATXN1	Gaze-evoked nystagmus	HP:0000640
6310	ATXN1	Dysmetric saccades	HP:0000641
6310	ATXN1	Skeletal muscle atrophy	HP:0003202
6310	ATXN1	Slow saccadic eye movements	HP:0000514
6310	ATXN1	Bulbar palsy	HP:0001283
6310	ATXN1	Areflexia	HP:0001284
6310	ATXN1	Autosomal dominant inheritance	HP:0000006
6310	ATXN1	Inertia	HP:0030216
6310	ATXN1	Optic atrophy	HP:0000648
6310	ATXN1	Generalized hypotonia	HP:0001290
6310	ATXN1	Hyperactive deep tendon reflexes	HP:0006801
6310	ATXN1	Bradykinesia	HP:0002067
6310	ATXN1	Dilated fourth ventricle	HP:0002198
6310	ATXN1	Limb ataxia	HP:0002070
6310	ATXN1	Abnormality of extrapyramidal motor function	HP:0002071
6310	ATXN1	Urinary bladder sphincter dysfunction	HP:0002839
6310	ATXN1	Chorea	HP:0002072
6310	ATXN1	Progressive cerebellar ataxia	HP:0002073
6310	ATXN1	Dysdiadochokinesis	HP:0002075
6310	ATXN1	Abnormality of masticatory muscle	HP:0410011
6310	ATXN1	Dysmetria	HP:0001310
6310	ATXN1	Truncal ataxia	HP:0002078
6310	ATXN1	Babinski sign	HP:0003487
6310	ATXN1	Optic disc pallor	HP:0000543
6310	ATXN1	Genetic anticipation with paternal anticipation bias	HP:0003744
6310	ATXN1	Decreased amplitude of sensory action potentials	HP:0007078
6310	ATXN1	Hypermetric saccades	HP:0007338
6310	ATXN1	Memory impairment	HP:0002354
6310	ATXN1	Bulbar signs	HP:0002483
6310	ATXN1	Dystonia	HP:0001332
6310	ATXN1	Staring gaze	HP:0025401
6310	ATXN1	Respiratory failure	HP:0002878
6310	ATXN1	Cognitive impairment	HP:0100543
6310	ATXN1	Impaired vibratory sensation	HP:0002495
6310	ATXN1	Abnormal nerve conduction velocity	HP:0040129
6310	ATXN1	Hyperreflexia	HP:0001347
6310	ATXN1	Slurred speech	HP:0001350
6310	ATXN1	Atrophy/Degeneration affecting the brainstem	HP:0007366
6310	ATXN1	Spinocerebellar tract degeneration	HP:0002503
6310	ATXN1	Fasciculations	HP:0002380
6310	ATXN1	Impaired proprioception	HP:0010831
6310	ATXN1	Abnormality of somatosensory evoked potentials	HP:0007377
6310	ATXN1	Ophthalmoparesis	HP:0000597
6310	ATXN1	Loss of Purkinje cells in the cerebellar vermis	HP:0007001
6310	ATXN1	Gait imbalance	HP:0002141
6310	ATXN1	Dorsal column degeneration	HP:0007006
6310	ATXN1	Dysphagia	HP:0002015
6310	ATXN1	Spinocerebellar atrophy	HP:0007263
6310	ATXN1	Muscular hypotonia	HP:0001252
6310	ATXN1	Decreased motor nerve conduction velocity	HP:0003431
6310	ATXN1	Spasticity	HP:0001257
6310	ATXN1	Dysarthria	HP:0001260
6310	ATXN1	Distal amyotrophy	HP:0003693
6310	ATXN1	Olivopontocerebellar atrophy	HP:0002542
6310	ATXN1	Supranuclear ophthalmoplegia	HP:0000623
6310	ATXN1	Hyporeflexia	HP:0001265
6310	ATXN1	Upgaze palsy	HP:0025331
6310	ATXN1	Abnormal flash visual evoked potentials	HP:0007928
6310	ATXN1	Cerebellar atrophy	HP:0001272
6310	ATXN1	Scanning speech	HP:0002168
6310	ATXN1	Decreased sensory nerve conduction velocity	HP:0003448
6310	ATXN1	Adult onset	HP:0003581
6310	ATXN1	Postural tremor	HP:0002174
6310	ATXN1	Nystagmus	HP:0000639
6310	ATXN1	Impaired horizontal smooth pursuit	HP:0001151
6311	ATXN2	Gaze-evoked nystagmus	HP:0000640
6311	ATXN2	Dysmetric saccades	HP:0000641
6311	ATXN2	Slow saccadic eye movements	HP:0000514
6311	ATXN2	Skeletal muscle atrophy	HP:0003202
6311	ATXN2	Neurodegeneration	HP:0002180
6311	ATXN2	Autosomal dominant inheritance	HP:0000006
6311	ATXN2	Generalized hypotonia	HP:0001290
6311	ATXN2	Paralysis	HP:0003470
6311	ATXN2	Rigidity	HP:0002063
6311	ATXN2	Hyperactive deep tendon reflexes	HP:0006801
6311	ATXN2	Oculomotor apraxia	HP:0000657
6311	ATXN2	Gait ataxia	HP:0002066
6311	ATXN2	Bradykinesia	HP:0002067
6311	ATXN2	Parkinsonism	HP:0001300
6311	ATXN2	Limb ataxia	HP:0002070
6311	ATXN2	Dilated fourth ventricle	HP:0002198
6311	ATXN2	Urinary bladder sphincter dysfunction	HP:0002839
6311	ATXN2	Chorea	HP:0002072
6311	ATXN2	Progressive cerebellar ataxia	HP:0002073
6311	ATXN2	Dysdiadochokinesis	HP:0002075
6311	ATXN2	Dysmetria	HP:0001310
6311	ATXN2	Genetic anticipation	HP:0003743
6311	ATXN2	Olivopontocerebellar hypoplasia	HP:0006955
6311	ATXN2	Dyspnea	HP:0002094
6311	ATXN2	Cerebellar Purkinje layer atrophy	HP:0012082
6311	ATXN2	Dystonia	HP:0001332
6311	ATXN2	Myoclonus	HP:0001336
6311	ATXN2	Amyotrophic lateral sclerosis	HP:0007354
6311	ATXN2	Abnormality of the spinocerebellar tracts	HP:0003133
6311	ATXN2	Respiratory failure	HP:0002878
6311	ATXN2	Impaired vibratory sensation	HP:0002495
6311	ATXN2	Muscle spasm	HP:0003394
6311	ATXN2	Spinocerebellar tract degeneration	HP:0002503
6311	ATXN2	Cerebral cortical atrophy	HP:0002120
6311	ATXN2	Emotional lability	HP:0000712
6311	ATXN2	Agitation	HP:0000713
6311	ATXN2	Fasciculations	HP:0002380
6311	ATXN2	Depressivity	HP:0000716
6311	ATXN2	Abnormality of the substantia nigra	HP:0045007
6311	ATXN2	Laryngospasm	HP:0025425
6311	ATXN2	Dementia	HP:0000726
6311	ATXN2	Xerostomia	HP:0000217
6311	ATXN2	Cerebral white matter atrophy	HP:0012762
6311	ATXN2	Ophthalmoplegia	HP:0000602
6311	ATXN2	Fatigue	HP:0012378
6311	ATXN2	Dysphagia	HP:0002015
6311	ATXN2	Nausea and vomiting	HP:0002017
6311	ATXN2	Anxiety	HP:0000739
6311	ATXN2	Muscular hypotonia	HP:0001252
6311	ATXN2	Abnormal cortical gyration	HP:0002536
6311	ATXN2	Spasticity	HP:0001257
6311	ATXN2	Kinetic tremor	HP:0030186
6311	ATXN2	Dysarthria	HP:0001260
6311	ATXN2	Distal amyotrophy	HP:0003693
6311	ATXN2	Olivopontocerebellar atrophy	HP:0002542
6311	ATXN2	Supranuclear ophthalmoplegia	HP:0000623
6311	ATXN2	Hyporeflexia	HP:0001265
6311	ATXN2	Fatigable weakness of swallowing muscles	HP:0030195
6311	ATXN2	Pain	HP:0012531
6311	ATXN2	Fatigable weakness of respiratory muscles	HP:0030196
6311	ATXN2	Abnormal cell morphology	HP:0025461
6311	ATXN2	Spinal cord posterior columns myelin loss	HP:0008311
6311	ATXN2	Postural instability	HP:0002172
6311	ATXN2	Generalized muscle weakness	HP:0003324
6311	ATXN2	Postural tremor	HP:0002174
6311	ATXN2	Rod-cone dystrophy	HP:0000510
6311	ATXN2	Nystagmus	HP:0000639
6311	ATXN2	Impaired horizontal smooth pursuit	HP:0001151
6314	ATXN7	Feeding difficulties	HP:0011968
6314	ATXN7	Slow saccadic eye movements	HP:0000514
6314	ATXN7	Hyperreflexia	HP:0001347
6314	ATXN7	Pigmentary retinopathy	HP:0000580
6314	ATXN7	Psychosis	HP:0000709
6314	ATXN7	Orofacial dyskinesia	HP:0002310
6314	ATXN7	Autosomal dominant inheritance	HP:0000006
6314	ATXN7	Optic atrophy	HP:0000648
6314	ATXN7	Cerebral atrophy	HP:0002059
6314	ATXN7	Hemeralopia	HP:0012047
6314	ATXN7	Progressive visual loss	HP:0000529
6314	ATXN7	Sensory impairment	HP:0003474
6314	ATXN7	Abnormality of extrapyramidal motor function	HP:0002071
6314	ATXN7	Chorea	HP:0002072
6314	ATXN7	Progressive cerebellar ataxia	HP:0002073
6314	ATXN7	Ophthalmoplegia	HP:0000602
6314	ATXN7	Dysdiadochokinesis	HP:0002075
6314	ATXN7	Dysmetria	HP:0001310
6314	ATXN7	Babinski sign	HP:0003487
6314	ATXN7	Dysphagia	HP:0002015
6314	ATXN7	Macular degeneration	HP:0000608
6314	ATXN7	Genetic anticipation with paternal anticipation bias	HP:0003744
6314	ATXN7	Congestive heart failure	HP:0001635
6314	ATXN7	Restless legs	HP:0012452
6314	ATXN7	Failure to thrive	HP:0001508
6314	ATXN7	Cone/cone-rod dystrophy	HP:0000548
6314	ATXN7	Photophobia	HP:0000613
6314	ATXN7	Neonatal hypotonia	HP:0001319
6314	ATXN7	Spasticity	HP:0001257
6314	ATXN7	Blindness	HP:0000618
6314	ATXN7	Muscle weakness	HP:0001324
6314	ATXN7	Dysarthria	HP:0001260
6314	ATXN7	Olivopontocerebellar atrophy	HP:0002542
6314	ATXN7	Global developmental delay	HP:0001263
6314	ATXN7	Supranuclear ophthalmoplegia	HP:0000623
6314	ATXN7	Mental deterioration	HP:0001268
6314	ATXN7	Motor delay	HP:0001270
6314	ATXN7	Cerebellar atrophy	HP:0001272
6314	ATXN7	Tremor	HP:0001337
6314	ATXN7	Visual loss	HP:0000572
6314	ATXN7	Nystagmus	HP:0000639
6315	ATXN8OS	Dysmetric saccades	HP:0000641
6315	ATXN8OS	Slow saccadic eye movements	HP:0000514
6315	ATXN8OS	Hyperreflexia	HP:0001347
6315	ATXN8OS	Autosomal dominant inheritance	HP:0000006
6315	ATXN8OS	Cerebellar vermis atrophy	HP:0006855
6315	ATXN8OS	Incoordination	HP:0002311
6315	ATXN8OS	Depressivity	HP:0000716
6315	ATXN8OS	Unsteady gait	HP:0002317
6315	ATXN8OS	Hypoplasia of the pons	HP:0012110
6315	ATXN8OS	Morphological abnormality of the pyramidal tract	HP:0002062
6315	ATXN8OS	Rigidity	HP:0002063
6315	ATXN8OS	Facial grimacing	HP:0000273
6315	ATXN8OS	Gait ataxia	HP:0002066
6315	ATXN8OS	Aspiration	HP:0002835
6315	ATXN8OS	Bradykinesia	HP:0002067
6315	ATXN8OS	Urinary incontinence	HP:0000020
6315	ATXN8OS	Limb ataxia	HP:0002070
6315	ATXN8OS	Abnormal pyramidal sign	HP:0007256
6315	ATXN8OS	Progressive cerebellar ataxia	HP:0002073
6315	ATXN8OS	Impaired smooth pursuit	HP:0007772
6315	ATXN8OS	Dysphagia	HP:0002015
6315	ATXN8OS	Spastic dysarthria	HP:0002464
6315	ATXN8OS	Impotence	HP:0000802
6315	ATXN8OS	Peripheral neuropathy	HP:0009830
6315	ATXN8OS	Spasticity	HP:0001257
6315	ATXN8OS	Dysarthria	HP:0001260
6315	ATXN8OS	Dystonia	HP:0001332
6315	ATXN8OS	Cerebellar atrophy	HP:0001272
6315	ATXN8OS	Tremor	HP:0001337
6315	ATXN8OS	Sensory neuropathy	HP:0000763
6315	ATXN8OS	Postural instability	HP:0002172
6315	ATXN8OS	Nystagmus	HP:0000639
6315	ATXN8OS	Impaired vibratory sensation	HP:0002495
112812	FDX2	Hepatomegaly	HP:0002240
112812	FDX2	Hyporeflexia	HP:0001265
112812	FDX2	Abnormality of metabolism/homeostasis	HP:0001939
112812	FDX2	Mitochondrial inheritance	HP:0001427
112812	FDX2	Muscular hypotonia	HP:0001252
112812	FDX2	Motor delay	HP:0001270
112812	FDX2	Autosomal dominant inheritance	HP:0000006
112812	FDX2	Autosomal recessive inheritance	HP:0000007
112812	FDX2	Mitochondrial myopathy	HP:0003737
112812	FDX2	Generalized hypotonia	HP:0001290
112812	FDX2	Muscle weakness	HP:0001324
112812	FDX2	Macroglossia	HP:0000158
112817	HOGA1	Calcium oxalate nephrolithiasis	HP:0008672
112817	HOGA1	Pollakisuria	HP:0100515
112817	HOGA1	Pain	HP:0012531
112817	HOGA1	Hematuria	HP:0000790
112817	HOGA1	Autosomal recessive inheritance	HP:0000007
112817	HOGA1	Hyperoxaluria	HP:0003159
112817	HOGA1	Dysuria	HP:0100518
112817	HOGA1	Nephrocalcinosis	HP:0000121
6323	SCN1A	Autosomal dominant inheritance	HP:0000006
6323	SCN1A	Infantile onset	HP:0003593
6323	SCN1A	Cerebral atrophy	HP:0002059
6323	SCN1A	Psychomotor retardation	HP:0025356
6323	SCN1A	Obtundation status	HP:0011151
6323	SCN1A	Encephalopathy	HP:0001298
6323	SCN1A	Generalized tonic-clonic seizures	HP:0002069
6323	SCN1A	Hemiplegia/hemiparesis	HP:0004374
6323	SCN1A	Sensorineural hearing impairment	HP:0000407
6323	SCN1A	Hemiclonic seizures	HP:0006813
6323	SCN1A	Migraine with aura	HP:0002077
6323	SCN1A	Generalized tonic-clonic seizures with focal onset	HP:0007334
6323	SCN1A	Personality disorder	HP:0012075
6323	SCN1A	EEG abnormality	HP:0002353
6323	SCN1A	Dysphasia	HP:0002357
6323	SCN1A	Abnormality of movement	HP:0100022
6323	SCN1A	Myoclonus	HP:0001336
6323	SCN1A	Tremor	HP:0001337
6323	SCN1A	Abnormality of brainstem morphology	HP:0002363
6323	SCN1A	EEG with focal sharp slow waves	HP:0011195
6323	SCN1A	Focal-onset seizure	HP:0007359
6323	SCN1A	Generalized tonic seizures	HP:0010818
6323	SCN1A	Atonic seizures	HP:0010819
6323	SCN1A	Pigmentary retinopathy	HP:0000580
6323	SCN1A	Febrile seizures	HP:0002373
6323	SCN1A	Epileptic encephalopathy	HP:0200134
6323	SCN1A	Childhood onset	HP:0011463
6323	SCN1A	Absence seizure	HP:0002121
6323	SCN1A	Generalized myoclonic seizures	HP:0002123
6323	SCN1A	Aggressive behavior	HP:0000718
6323	SCN1A	Focal impaired awareness seizure	HP:0002384
6323	SCN1A	Status epilepticus	HP:0002133
6323	SCN1A	Neurodevelopmental delay	HP:0012758
6323	SCN1A	Autistic behavior	HP:0000729
6323	SCN1A	Focal clonic seizures	HP:0002266
6323	SCN1A	Falls	HP:0002527
6323	SCN1A	Cutaneous photosensitivity	HP:0000992
6323	SCN1A	Intellectual disability	HP:0001249
6323	SCN1A	Cerebral visual impairment	HP:0100704
6323	SCN1A	Seizures	HP:0001250
6323	SCN1A	Ataxia	HP:0001251
6323	SCN1A	Muscular hypotonia	HP:0001252
6323	SCN1A	Photophobia	HP:0000613
6323	SCN1A	Atypical absence seizure	HP:0007270
6323	SCN1A	Blindness	HP:0000618
6323	SCN1A	Postnatal microcephaly	HP:0005484
6323	SCN1A	Global developmental delay	HP:0001263
6323	SCN1A	Hyperactivity	HP:0000752
6323	SCN1A	Mental deterioration	HP:0001268
6323	SCN1A	Variable expressivity	HP:0003828
6323	SCN1A	Hemiparesis	HP:0001269
6323	SCN1A	Motor delay	HP:0001270
6323	SCN1A	Hemiplegia	HP:0002301
6323	SCN1A	Nystagmus	HP:0000639
6324	SCN1B	Atonic seizures	HP:0010819
6324	SCN1B	Febrile seizures	HP:0002373
6324	SCN1B	Epileptic encephalopathy	HP:0200134
6324	SCN1B	Autosomal dominant inheritance	HP:0000006
6324	SCN1B	Autosomal recessive inheritance	HP:0000007
6324	SCN1B	Absence seizure	HP:0002121
6324	SCN1B	Generalized hypotonia	HP:0001290
6324	SCN1B	Generalized myoclonic seizures	HP:0002123
6324	SCN1B	Psychomotor retardation	HP:0025356
6324	SCN1B	Obtundation status	HP:0011151
6324	SCN1B	Focal impaired awareness seizure	HP:0002384
6324	SCN1B	Generalized tonic-clonic seizures	HP:0002069
6324	SCN1B	Paroxysmal atrial fibrillation	HP:0004757
6324	SCN1B	Neurodevelopmental delay	HP:0012758
6324	SCN1B	Limb ataxia	HP:0002070
6324	SCN1B	Abnormal pyramidal sign	HP:0007256
6324	SCN1B	Focal clonic seizures	HP:0002266
6324	SCN1B	ST segment elevation	HP:0012251
6324	SCN1B	Arrhythmia	HP:0011675
6324	SCN1B	Hemiclonic seizures	HP:0006813
6324	SCN1B	Cutaneous photosensitivity	HP:0000992
6324	SCN1B	Ataxia	HP:0001251
6324	SCN1B	Muscular hypotonia	HP:0001252
6324	SCN1B	Generalized tonic-clonic seizures with focal onset	HP:0007334
6324	SCN1B	Atypical absence seizure	HP:0007270
6324	SCN1B	Spasticity	HP:0001257
6324	SCN1B	Global developmental delay	HP:0001263
6324	SCN1B	EEG abnormality	HP:0002353
6324	SCN1B	Developmental stagnation	HP:0007281
6324	SCN1B	Aortic valve stenosis	HP:0001650
6324	SCN1B	Incomplete penetrance	HP:0003829
6324	SCN1B	Tremor	HP:0001337
6324	SCN1B	Bundle branch block	HP:0011710
6324	SCN1B	Ventricular fibrillation	HP:0001663
6324	SCN1B	Left atrial enlargement	HP:0031295
6326	SCN2A	Cyanosis	HP:0000961
6326	SCN2A	Normal interictal EEG	HP:0002372
6326	SCN2A	Epileptic encephalopathy	HP:0200134
6326	SCN2A	Febrile seizures	HP:0002373
6326	SCN2A	Autosomal dominant inheritance	HP:0000006
6326	SCN2A	Developmental regression	HP:0002376
6326	SCN2A	Infantile onset	HP:0003593
6326	SCN2A	Generalized myoclonic seizures	HP:0002123
6326	SCN2A	Psychomotor retardation	HP:0025356
6326	SCN2A	Spastic tetraplegia	HP:0002510
6326	SCN2A	Obtundation status	HP:0011151
6326	SCN2A	Focal impaired awareness seizure	HP:0002384
6326	SCN2A	Reduced consciousness/confusion	HP:0004372
6326	SCN2A	Generalized tonic-clonic seizures	HP:0002069
6326	SCN2A	Status epilepticus	HP:0002133
6326	SCN2A	Neurodevelopmental delay	HP:0012758
6326	SCN2A	Hypsarrhythmia	HP:0002521
6326	SCN2A	Focal clonic seizures	HP:0002266
6326	SCN2A	Fatigue	HP:0012378
6326	SCN2A	Migraine	HP:0002076
6326	SCN2A	Cutaneous photosensitivity	HP:0000992
6326	SCN2A	Nausea and vomiting	HP:0002017
6326	SCN2A	Seizures	HP:0001250
6326	SCN2A	Hallucinations	HP:0000738
6326	SCN2A	Ataxia	HP:0001251
6326	SCN2A	Muscular hypotonia	HP:0001252
6326	SCN2A	Generalized tonic-clonic seizures with focal onset	HP:0007334
6326	SCN2A	Focal seizures, afebril	HP:0040168
6326	SCN2A	Deeply set eye	HP:0000490
6326	SCN2A	Global developmental delay	HP:0001263
6326	SCN2A	EEG abnormality	HP:0002353
6326	SCN2A	Abnormality of skin morphology	HP:0011121
6326	SCN2A	Choreoathetosis	HP:0001266
6326	SCN2A	Memory impairment	HP:0002354
6326	SCN2A	Variable expressivity	HP:0003828
6326	SCN2A	Infantile spasms	HP:0012469
6326	SCN2A	Dyskinesia	HP:0100660
6326	SCN2A	Dysphasia	HP:0002357
6326	SCN2A	Dysesthesia	HP:0012534
6326	SCN2A	Myoclonus	HP:0001336
6326	SCN2A	Apnea	HP:0002104
6326	SCN2A	Abnormality of vision	HP:0000504
6326	SCN2A	Tremor	HP:0001337
6326	SCN2A	Hypertonia	HP:0001276
80055	PGAP1	Absent speech	HP:0001344
80055	PGAP1	Abnormal electroretinogram	HP:0000512
80055	PGAP1	Hyperreflexia	HP:0001347
80055	PGAP1	Autosomal recessive inheritance	HP:0000007
80055	PGAP1	Cerebral cortical atrophy	HP:0002120
80055	PGAP1	Cerebral atrophy	HP:0002059
80055	PGAP1	Spastic gait	HP:0002064
80055	PGAP1	Macrotia	HP:0000400
80055	PGAP1	Limb tremor	HP:0200085
80055	PGAP1	Short neck	HP:0000470
80055	PGAP1	Wide mouth	HP:0000154
80055	PGAP1	Babinski sign	HP:0003487
80055	PGAP1	Abnormal myelination	HP:0012447
80055	PGAP1	Hypoplasia of the corpus callosum	HP:0002079
80055	PGAP1	Delayed myelination	HP:0012448
80055	PGAP1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
80055	PGAP1	Intellectual disability	HP:0001249
80055	PGAP1	Cerebral visual impairment	HP:0100704
80055	PGAP1	Short stature	HP:0004322
80055	PGAP1	Seizures	HP:0001250
80055	PGAP1	Abnormality of the dentition	HP:0000164
80055	PGAP1	Neonatal hypotonia	HP:0001319
80055	PGAP1	Intellectual disability, mild	HP:0001256
80055	PGAP1	Spasticity	HP:0001257
80055	PGAP1	Cerebellar hypoplasia	HP:0001321
80055	PGAP1	Progressive spastic paraplegia	HP:0007020
80055	PGAP1	Retinal dystrophy	HP:0000556
80055	PGAP1	Global developmental delay	HP:0001263
80055	PGAP1	Difficulty walking	HP:0002355
80055	PGAP1	Generalized amyotrophy	HP:0003700
80055	PGAP1	Agenesis of corpus callosum	HP:0001274
80055	PGAP1	Microcephaly	HP:0000252
6327	SCN2B	Paroxysmal atrial fibrillation	HP:0004757
6327	SCN2B	Autosomal dominant inheritance	HP:0000006
6327	SCN2B	Hypertension	HP:0000822
6327	SCN2B	Prolonged PR interval	HP:0012248
6327	SCN2B	ST segment elevation	HP:0012251
6328	SCN3A	Optic atrophy	HP:0000648
6328	SCN3A	Infantile onset	HP:0003593
6328	SCN3A	Generalized hypotonia	HP:0001290
6328	SCN3A	Cerebral atrophy	HP:0002059
6328	SCN3A	Unsteady gait	HP:0002317
6328	SCN3A	Rigidity	HP:0002063
6328	SCN3A	Encephalopathy	HP:0001298
6328	SCN3A	Decreased fetal movement	HP:0001558
6328	SCN3A	Hypodontia	HP:0000668
6328	SCN3A	Abnormal myelination	HP:0012447
6328	SCN3A	Hypoplasia of the corpus callosum	HP:0002079
6328	SCN3A	Retinal degeneration	HP:0000546
6328	SCN3A	Abnormal autonomic nervous system physiology	HP:0012332
6328	SCN3A	Difficulty walking	HP:0002355
6328	SCN3A	Dyskinesia	HP:0100660
6328	SCN3A	Myoclonus	HP:0001336
6328	SCN3A	Tremor	HP:0001337
6328	SCN3A	Feeding difficulties	HP:0011968
6328	SCN3A	Absent speech	HP:0001344
6328	SCN3A	Epileptic encephalopathy	HP:0200134
6328	SCN3A	Developmental regression	HP:0002376
6328	SCN3A	Limb hypertonia	HP:0002509
6328	SCN3A	Autism	HP:0000717
6328	SCN3A	Polymicrogyria	HP:0002126
6328	SCN3A	Spastic tetraplegia	HP:0002510
6328	SCN3A	Status epilepticus	HP:0002133
6328	SCN3A	Hypsarrhythmia	HP:0002521
6328	SCN3A	High forehead	HP:0000348
6328	SCN3A	EEG with multifocal slow activity	HP:0010844
6328	SCN3A	Dysphagia	HP:0002015
6328	SCN3A	Intellectual disability	HP:0001249
6328	SCN3A	Short stature	HP:0004322
6328	SCN3A	Seizures	HP:0001250
6328	SCN3A	Ataxia	HP:0001251
6328	SCN3A	Gastroesophageal reflux	HP:0002020
6328	SCN3A	Failure to thrive	HP:0001508
6328	SCN3A	Impulsivity	HP:0100710
6328	SCN3A	Spasticity	HP:0001257
6328	SCN3A	Attention deficit hyperactivity disorder	HP:0007018
6328	SCN3A	Inability to walk	HP:0002540
6328	SCN3A	Downslanted palpebral fissures	HP:0000494
6328	SCN3A	Delayed speech and language development	HP:0000750
6328	SCN3A	Global developmental delay	HP:0001263
6328	SCN3A	Hyporeflexia	HP:0001265
6328	SCN3A	Mental deterioration	HP:0001268
6328	SCN3A	Poor head control	HP:0002421
6328	SCN3A	Abnormality of vision	HP:0000504
6328	SCN3A	Abnormal corpus callosum morphology	HP:0001273
6328	SCN3A	Microcephaly	HP:0000252
6328	SCN3A	Ptosis	HP:0000508
6328	SCN3A	Nystagmus	HP:0000639
6329	SCN4A	Death in early adulthood	HP:0100613
6329	SCN4A	Autosomal dominant inheritance	HP:0000006
6329	SCN4A	Autosomal recessive inheritance	HP:0000007
6329	SCN4A	Gait disturbance	HP:0001288
6329	SCN4A	Infantile onset	HP:0003593
6329	SCN4A	Neonatal inspiratory stridor	HP:0004875
6329	SCN4A	Drowsiness	HP:0002329
6329	SCN4A	Thoracic kyphoscoliosis	HP:0005659
6329	SCN4A	Epicanthus	HP:0000286
6329	SCN4A	External ophthalmoplegia	HP:0000544
6329	SCN4A	Paradoxical myotonia	HP:0011809
6329	SCN4A	Abnormal blood potassium concentration	HP:0011042
6329	SCN4A	Reduced tendon reflexes	HP:0001315
6329	SCN4A	Neonatal hypotonia	HP:0001319
6329	SCN4A	Restrictive ventilatory defect	HP:0002091
6329	SCN4A	Muscle weakness	HP:0001324
6329	SCN4A	Respiratory insufficiency	HP:0002093
6329	SCN4A	Weakness of the intrinsic hand muscles	HP:0009005
6329	SCN4A	Dyspnea	HP:0002094
6329	SCN4A	Bowel incontinence	HP:0002607
6329	SCN4A	Periodic hyperkalemic paralysis	HP:0007215
6329	SCN4A	Asthma	HP:0002099
6329	SCN4A	Percussion myotonia	HP:0010548
6329	SCN4A	Hypothyroidism	HP:0000821
6329	SCN4A	Apnea	HP:0002104
6329	SCN4A	Exertional dyspnea	HP:0002875
6329	SCN4A	Easy fatigability	HP:0003388
6329	SCN4A	Exercise-induced muscle fatigue	HP:0009020
6329	SCN4A	Apneic episodes in infancy	HP:0005949
6329	SCN4A	Respiratory failure	HP:0002878
6329	SCN4A	Adrenocortical adenoma	HP:0008256
6329	SCN4A	Muscle spasm	HP:0003394
6329	SCN4A	Stridor	HP:0010307
6329	SCN4A	Abnormality of the voice	HP:0001608
6329	SCN4A	Paresthesia	HP:0003401
6329	SCN4A	Decreased miniature endplate potentials	HP:0003402
6329	SCN4A	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
6329	SCN4A	Fasciculations	HP:0002380
6329	SCN4A	Laryngospasm	HP:0025425
6329	SCN4A	Hypokalemia	HP:0002900
6329	SCN4A	Ophthalmoparesis	HP:0000597
6329	SCN4A	Hyponatremia	HP:0002902
6329	SCN4A	Ophthalmoplegia	HP:0000602
6329	SCN4A	Flexion contracture	HP:0001371
6329	SCN4A	Facial muscle hypertrophy	HP:0012892
6329	SCN4A	Limitation of joint mobility	HP:0001376
6329	SCN4A	Congestive heart failure	HP:0001635
6329	SCN4A	Handgrip myotonia	HP:0012899
6329	SCN4A	Myotonia of the face	HP:0012900
6329	SCN4A	Myotonia of the jaw	HP:0012901
6329	SCN4A	Myotonia of the upper limb	HP:0012903
6329	SCN4A	Cold-sensitive myotonia	HP:0012904
6329	SCN4A	Hyperkalemia	HP:0002153
6329	SCN4A	Late-onset proximal muscle weakness	HP:0003694
6329	SCN4A	Decreased size of nerve terminals	HP:0003443
6329	SCN4A	Weakness of long finger extensor muscles	HP:0009077
6329	SCN4A	Myopathy	HP:0003198
6329	SCN4A	Skeletal muscle hypertrophy	HP:0003712
6329	SCN4A	EMG abnormality	HP:0003457
6329	SCN4A	Skeletal muscle atrophy	HP:0003202
6329	SCN4A	EMG: myopathic abnormalities	HP:0003458
6329	SCN4A	Blepharospasm	HP:0000643
6329	SCN4A	Triceps weakness	HP:0031108
6329	SCN4A	Facial palsy	HP:0010628
6329	SCN4A	Generalized muscle hypertrophy	HP:0003720
6329	SCN4A	Neck flexor weakness	HP:0003722
6329	SCN4A	Diplopia	HP:0000651
6329	SCN4A	Chest pain	HP:0100749
6329	SCN4A	Cold paresis	HP:0031372
6329	SCN4A	Muscular edema	HP:0100748
6329	SCN4A	Ankle weakness	HP:0031374
6329	SCN4A	Fatigable weakness	HP:0003473
6329	SCN4A	Delayed gross motor development	HP:0002194
6329	SCN4A	Respiratory paralysis	HP:0002203
6329	SCN4A	Arrhythmia	HP:0011675
6329	SCN4A	Abnormality of masticatory muscle	HP:0410011
6329	SCN4A	Elevated serum creatine kinase	HP:0003236
6329	SCN4A	Episodic flaccid weakness	HP:0003752
6329	SCN4A	Feeding difficulties in infancy	HP:0008872
6329	SCN4A	Cerebral palsy	HP:0100021
6329	SCN4A	Myotonia	HP:0002486
6329	SCN4A	Episodic hypokalemia	HP:0012726
6329	SCN4A	Periodic paralysis	HP:0003768
6329	SCN4A	Feeding difficulties	HP:0011968
6329	SCN4A	Cyanosis	HP:0000961
6329	SCN4A	Increased intramyocellular lipid droplets	HP:0012240
6329	SCN4A	Periodic hypokalemic paresis	HP:0008153
6329	SCN4A	High palate	HP:0000218
6329	SCN4A	Type 1 muscle fiber predominance	HP:0003803
6329	SCN4A	Shoulder girdle muscle weakness	HP:0003547
6329	SCN4A	Orthopnea	HP:0012764
6329	SCN4A	Postprandial hyperglycemia	HP:0011998
6329	SCN4A	Dysphagia	HP:0002015
6329	SCN4A	Muscle stiffness	HP:0003552
6329	SCN4A	Intellectual disability	HP:0001249
6329	SCN4A	Short stature	HP:0004322
6329	SCN4A	Hip flexor weakness	HP:0012515
6329	SCN4A	Inspiratory stridor	HP:0005348
6329	SCN4A	Reduced vital capacity	HP:0002792
6329	SCN4A	Hyperlordosis	HP:0003307
6329	SCN4A	Death in infancy	HP:0001522
6329	SCN4A	Variable expressivity	HP:0003828
6329	SCN4A	Fatigable weakness of respiratory muscles	HP:0030196
6329	SCN4A	Mildly elevated creatine kinase	HP:0008180
6329	SCN4A	Incomplete penetrance	HP:0003829
6329	SCN4A	Motor delay	HP:0001270
6329	SCN4A	Dysesthesia	HP:0012534
6329	SCN4A	Fatigable weakness of neck muscles	HP:0030199
6329	SCN4A	Hypertonia	HP:0001276
6329	SCN4A	Ptosis	HP:0000508
6329	SCN4A	Myalgia	HP:0003326
6329	SCN4A	Malignant hyperthermia	HP:0002047
6330	SCN4B	Autosomal dominant inheritance	HP:0000006
6330	SCN4B	Atrial fibrillation	HP:0005110
6330	SCN4B	Prolonged QT interval	HP:0001657
6330	SCN4B	T-wave alternans	HP:0012266
6330	SCN4B	Sudden cardiac death	HP:0001645
6330	SCN4B	Atrioventricular block	HP:0001678
6331	SCN5A	Right bundle branch block	HP:0011712
6331	SCN5A	Torsade de pointes	HP:0001664
6331	SCN5A	EMG abnormality	HP:0003457
6331	SCN5A	Left bundle branch block	HP:0011713
6331	SCN5A	Atrial standstill	HP:0025478
6331	SCN5A	Autosomal dominant inheritance	HP:0000006
6331	SCN5A	Autosomal recessive inheritance	HP:0000007
6331	SCN5A	Atrial flutter	HP:0004749
6331	SCN5A	Atrioventricular block	HP:0001678
6331	SCN5A	Paroxysmal atrial tachycardia	HP:0006671
6331	SCN5A	Stroke	HP:0001297
6331	SCN5A	Reduced systolic function	HP:0006673
6331	SCN5A	Heterogeneous	HP:0001425
6331	SCN5A	Abnormality of neutrophils	HP:0001874
6331	SCN5A	Supraventricular tachycardia	HP:0004755
6331	SCN5A	Paroxysmal atrial fibrillation	HP:0004757
6331	SCN5A	Palmoplantar keratoderma	HP:0000982
6331	SCN5A	Sensorineural hearing impairment	HP:0000407
6331	SCN5A	Sinus bradycardia	HP:0001688
6331	SCN5A	Ventricular extrasystoles	HP:0006682
6331	SCN5A	Arrhythmia	HP:0011675
6331	SCN5A	Cardiac arrest	HP:0001695
6331	SCN5A	Lipoatrophy	HP:0100578
6331	SCN5A	Sudden death	HP:0001699
6331	SCN5A	Ventricular escape rhythm	HP:0005155
6331	SCN5A	Elevated serum creatine kinase	HP:0003236
6331	SCN5A	Palpitations	HP:0001962
6331	SCN5A	Premature atrial contractions	HP:0006699
6331	SCN5A	Dilated cardiomyopathy	HP:0001644
6331	SCN5A	Sudden cardiac death	HP:0001645
6331	SCN5A	Dyspnea	HP:0002094
6331	SCN5A	Left ventricular hypertrophy	HP:0001712
6331	SCN5A	Tachycardia	HP:0001649
6331	SCN5A	Complete heart block with broad QRS complexes	HP:0005170
6331	SCN5A	Left posterior fascicular block	HP:0005172
6331	SCN5A	Atrial fibrillation	HP:0005110
6331	SCN5A	Sick sinus syndrome	HP:0011704
6331	SCN5A	Prolonged QT interval	HP:0001657
6331	SCN5A	Congenital onset	HP:0003577
6331	SCN5A	Tricuspid regurgitation	HP:0005180
6331	SCN5A	Myopathy	HP:0003198
6331	SCN5A	Syncope	HP:0001279
6331	SCN5A	Ventricular fibrillation	HP:0001663
6331	SCN5A	Left anterior fascicular block	HP:0011711
6331	SCN5A	Left atrial enlargement	HP:0031295
6334	SCN8A	Gaze-evoked nystagmus	HP:0000640
6334	SCN8A	Autosomal dominant inheritance	HP:0000006
6334	SCN8A	Amblyopia	HP:0000646
6334	SCN8A	Optic atrophy	HP:0000648
6334	SCN8A	Generalized hypotonia	HP:0001290
6334	SCN8A	Cerebral atrophy	HP:0002059
6334	SCN8A	Unsteady gait	HP:0002317
6334	SCN8A	Rigidity	HP:0002063
6334	SCN8A	Encephalopathy	HP:0001298
6334	SCN8A	Reduced consciousness/confusion	HP:0004372
6334	SCN8A	Generalized tonic-clonic seizures	HP:0002069
6334	SCN8A	Generalized-onset seizure	HP:0002197
6334	SCN8A	Decreased fetal movement	HP:0001558
6334	SCN8A	Hypodontia	HP:0000668
6334	SCN8A	Migraine	HP:0002076
6334	SCN8A	Dysmetria	HP:0001310
6334	SCN8A	Abnormal myelination	HP:0012447
6334	SCN8A	Retinal degeneration	HP:0000546
6334	SCN8A	Memory impairment	HP:0002354
6334	SCN8A	Difficulty walking	HP:0002355
6334	SCN8A	Dyskinesia	HP:0100660
6334	SCN8A	Dysphasia	HP:0002357
6334	SCN8A	Myoclonus	HP:0001336
6334	SCN8A	Tremor	HP:0001337
6334	SCN8A	Paroxysmal choreoathetosis	HP:0007098
6334	SCN8A	Cognitive impairment	HP:0100543
6334	SCN8A	Focal-onset seizure	HP:0007359
6334	SCN8A	Feeding difficulties	HP:0011968
6334	SCN8A	Normal interictal EEG	HP:0002372
6334	SCN8A	Epileptic encephalopathy	HP:0200134
6334	SCN8A	Developmental regression	HP:0002376
6334	SCN8A	Emotional lability	HP:0000712
6334	SCN8A	Limb hypertonia	HP:0002509
6334	SCN8A	Autism	HP:0000717
6334	SCN8A	Status epilepticus	HP:0002133
6334	SCN8A	Hypsarrhythmia	HP:0002521
6334	SCN8A	Epileptic spasms	HP:0011097
6334	SCN8A	Fatigue	HP:0012378
6334	SCN8A	High forehead	HP:0000348
6334	SCN8A	EEG with multifocal slow activity	HP:0010844
6334	SCN8A	Stereotypy	HP:0000733
6334	SCN8A	Esophoria	HP:0025312
6334	SCN8A	Intellectual disability	HP:0001249
6334	SCN8A	Optic nerve hypoplasia	HP:0000609
6334	SCN8A	Nausea and vomiting	HP:0002017
6334	SCN8A	Short stature	HP:0004322
6334	SCN8A	Seizures	HP:0001250
6334	SCN8A	Hallucinations	HP:0000738
6334	SCN8A	Ataxia	HP:0001251
6334	SCN8A	Gastroesophageal reflux	HP:0002020
6334	SCN8A	Failure to thrive	HP:0001508
6334	SCN8A	Muscular hypotonia	HP:0001252
6334	SCN8A	Impulsivity	HP:0100710
6334	SCN8A	Spasticity	HP:0001257
6334	SCN8A	Attention deficit hyperactivity disorder	HP:0007018
6334	SCN8A	Deeply set eye	HP:0000490
6334	SCN8A	Dysarthria	HP:0001260
6334	SCN8A	Downslanted palpebral fissures	HP:0000494
6334	SCN8A	Delayed speech and language development	HP:0000750
6334	SCN8A	Global developmental delay	HP:0001263
6334	SCN8A	Hyporeflexia	HP:0001265
6334	SCN8A	Choreoathetosis	HP:0001266
6334	SCN8A	Mental deterioration	HP:0001268
6334	SCN8A	Poor head control	HP:0002421
6334	SCN8A	Dysesthesia	HP:0012534
6334	SCN8A	Abnormality of vision	HP:0000504
6334	SCN8A	Abnormal corpus callosum morphology	HP:0001273
6334	SCN8A	Microcephaly	HP:0000252
6334	SCN8A	Ptosis	HP:0000508
6334	SCN8A	Hypertonia	HP:0001276
6334	SCN8A	Progressive microcephaly	HP:0000253
6334	SCN8A	Paroxysmal dyskinesia	HP:0007166
6334	SCN8A	Nystagmus	HP:0000639
6335	SCN9A	Skeletal muscle atrophy	HP:0003202
6335	SCN9A	Areflexia	HP:0001284
6335	SCN9A	Autosomal dominant inheritance	HP:0000006
6335	SCN9A	Autosomal recessive inheritance	HP:0000007
6335	SCN9A	Infantile onset	HP:0003593
6335	SCN9A	Generalized hypotonia	HP:0001290
6335	SCN9A	Psychomotor retardation	HP:0025356
6335	SCN9A	Obtundation status	HP:0011151
6335	SCN9A	Dystrophic toenail	HP:0001810
6335	SCN9A	Abnormality of metabolism/homeostasis	HP:0001939
6335	SCN9A	Erythromelalgia	HP:0032147
6335	SCN9A	Urinary incontinence	HP:0000020
6335	SCN9A	Generalized tonic-clonic seizures	HP:0002069
6335	SCN9A	Paronychia	HP:0001818
6335	SCN9A	Recurrent respiratory infections	HP:0002205
6335	SCN9A	Tapered finger	HP:0001182
6335	SCN9A	Abnormal cortical bone morphology	HP:0003103
6335	SCN9A	Erythema	HP:0010783
6335	SCN9A	Impaired pain sensation	HP:0007328
6335	SCN9A	Anal pain	HP:0500005
6335	SCN9A	Autoamputation of digits	HP:0007460
6335	SCN9A	Juvenile onset	HP:0003621
6335	SCN9A	Generalized tonic-clonic seizures with focal onset	HP:0007334
6335	SCN9A	Neonatal onset	HP:0003623
6335	SCN9A	Feeding difficulties in infancy	HP:0008872
6335	SCN9A	Palpitations	HP:0001962
6335	SCN9A	Abnormality of epiphysis morphology	HP:0005930
6335	SCN9A	Osteolytic defects of the phalanges of the hand	HP:0009771
6335	SCN9A	Abnormal autonomic nervous system physiology	HP:0012332
6335	SCN9A	Episodic hyperhidrosis	HP:0001069
6335	SCN9A	EEG abnormality	HP:0002353
6335	SCN9A	Foot acroosteolysis	HP:0001842
6335	SCN9A	Flushing	HP:0031284
6335	SCN9A	Decreased number of peripheral myelinated nerve fibers	HP:0003380
6335	SCN9A	Hyposmia	HP:0004409
6335	SCN9A	Tremor	HP:0001337
6335	SCN9A	Focal-onset seizure	HP:0007359
6335	SCN9A	Decreased corneal reflex	HP:0008000
6335	SCN9A	Atonic seizures	HP:0010819
6335	SCN9A	Abnormality of the nervous system	HP:0000707
6335	SCN9A	Abnormality of the musculature	HP:0003011
6335	SCN9A	Febrile seizures	HP:0002373
6335	SCN9A	Hypohidrosis	HP:0000966
6335	SCN9A	Dystrophic fingernails	HP:0008391
6335	SCN9A	Jaw pain	HP:0040264
6335	SCN9A	Abnormality of the hip bone	HP:0003272
6335	SCN9A	Absence seizure	HP:0002121
6335	SCN9A	Keratoconjunctivitis sicca	HP:0001097
6335	SCN9A	Vasculitis	HP:0002633
6335	SCN9A	Anhidrosis	HP:0000970
6335	SCN9A	Anosmia	HP:0000458
6335	SCN9A	Generalized myoclonic seizures	HP:0002123
6335	SCN9A	Hyperhidrosis	HP:0000975
6335	SCN9A	Abnormal thrombocyte morphology	HP:0001872
6335	SCN9A	Focal impaired awareness seizure	HP:0002384
6335	SCN9A	Abnormality of the ankles	HP:0003028
6335	SCN9A	Wormian bones	HP:0002645
6335	SCN9A	Neurodevelopmental delay	HP:0012758
6335	SCN9A	Ocular pain	HP:0200026
6335	SCN9A	Xerostomia	HP:0000217
6335	SCN9A	Mandibular pain	HP:0200025
6335	SCN9A	Focal clonic seizures	HP:0002266
6335	SCN9A	Slow progression	HP:0003677
6335	SCN9A	Pruritus	HP:0000989
6335	SCN9A	Diarrhea	HP:0002014
6335	SCN9A	Decreased taste sensation	HP:0000224
6335	SCN9A	Cutaneous photosensitivity	HP:0000992
6335	SCN9A	Seizures	HP:0001250
6335	SCN9A	Constipation	HP:0002019
6335	SCN9A	Ataxia	HP:0001251
6335	SCN9A	Muscular hypotonia	HP:0001252
6335	SCN9A	Gastroesophageal reflux	HP:0002020
6335	SCN9A	Painless fractures due to injury	HP:0002661
6335	SCN9A	Peripheral neuropathy	HP:0009830
6335	SCN9A	Acral ulceration	HP:0006121
6335	SCN9A	Hyperlordosis	HP:0003307
6335	SCN9A	Pain insensitivity	HP:0007021
6335	SCN9A	Blurred vision	HP:0000622
6335	SCN9A	Tachycardia	HP:0001649
6335	SCN9A	Hyporeflexia	HP:0001265
6335	SCN9A	Variable expressivity	HP:0003828
6335	SCN9A	Leukemia	HP:0001909
6335	SCN9A	Lacrimation abnormality	HP:0000632
6335	SCN9A	Decreased sensory nerve conduction velocity	HP:0003448
6335	SCN9A	Decreased nerve conduction velocity	HP:0000762
6335	SCN9A	Reduced bone mineral density	HP:0004349
6335	SCN9A	Hypothermia	HP:0002045
6335	SCN9A	Bradycardia	HP:0001662
6335	SCN9A	Myalgia	HP:0003326
6335	SCN9A	Abnormality of the knee	HP:0002815
6336	SCN10A	Seizures	HP:0001250
6336	SCN10A	Constipation	HP:0002019
6336	SCN10A	Autosomal dominant inheritance	HP:0000006
6336	SCN10A	Peripheral neuropathy	HP:0009830
6336	SCN10A	Vasculitis	HP:0002633
6336	SCN10A	Abnormal thrombocyte morphology	HP:0001872
6336	SCN10A	Leukemia	HP:0001909
6336	SCN10A	Hyperalgesia	HP:0031005
6336	SCN10A	Adult onset	HP:0003581
6336	SCN10A	Pruritus	HP:0000989
6336	SCN10A	Hypothermia	HP:0002045
6336	SCN10A	Recurrent respiratory infections	HP:0002205
6336	SCN10A	Erythema	HP:0010783
6337	SCNN1A	Autosomal dominant inheritance	HP:0000006
6337	SCNN1A	Autosomal recessive inheritance	HP:0000007
6337	SCNN1A	Hyperactive renin-angiotensin system	HP:0000841
6337	SCNN1A	Infantile onset	HP:0003593
6337	SCNN1A	Elevated sweat chloride	HP:0012236
6337	SCNN1A	Cerebral ischemia	HP:0002637
6337	SCNN1A	Renal insufficiency	HP:0000083
6337	SCNN1A	Hypokalemia	HP:0002900
6337	SCNN1A	Metabolic acidosis	HP:0001942
6337	SCNN1A	Hyponatremia	HP:0002902
6337	SCNN1A	Dehydration	HP:0001944
6337	SCNN1A	Fatigue	HP:0012378
6337	SCNN1A	Hyperaldosteronism	HP:0000859
6337	SCNN1A	Arrhythmia	HP:0011675
6337	SCNN1A	Recurrent respiratory infections	HP:0002205
6337	SCNN1A	Vomiting	HP:0002013
6337	SCNN1A	Diarrhea	HP:0002014
6337	SCNN1A	Constipation	HP:0002019
6337	SCNN1A	Failure to thrive	HP:0001508
6337	SCNN1A	Feeding difficulties in infancy	HP:0008872
6337	SCNN1A	Hyperkalemia	HP:0002153
6337	SCNN1A	Muscle weakness	HP:0001324
6337	SCNN1A	Nephropathy	HP:0000112
6337	SCNN1A	Metabolic alkalosis	HP:0200114
6337	SCNN1A	Pseudohypoaldosteronism	HP:0008242
6337	SCNN1A	Variable expressivity	HP:0003828
6337	SCNN1A	Chronic bronchitis	HP:0004469
6337	SCNN1A	Hypertension	HP:0000822
6337	SCNN1A	Hypotension	HP:0002615
6337	SCNN1A	Bronchiectasis	HP:0002110
6337	SCNN1A	Renal salt wasting	HP:0000127
6338	SCNN1B	Autosomal dominant inheritance	HP:0000006
6338	SCNN1B	Autosomal recessive inheritance	HP:0000007
6338	SCNN1B	Hyperactive renin-angiotensin system	HP:0000841
6338	SCNN1B	Infantile onset	HP:0003593
6338	SCNN1B	Elevated sweat chloride	HP:0012236
6338	SCNN1B	Cerebral ischemia	HP:0002637
6338	SCNN1B	Renal insufficiency	HP:0000083
6338	SCNN1B	Hypokalemia	HP:0002900
6338	SCNN1B	Metabolic acidosis	HP:0001942
6338	SCNN1B	Hyponatremia	HP:0002902
6338	SCNN1B	Decreased circulating renin level	HP:0003351
6338	SCNN1B	Dehydration	HP:0001944
6338	SCNN1B	Fatigue	HP:0012378
6338	SCNN1B	Hyperaldosteronism	HP:0000859
6338	SCNN1B	Arrhythmia	HP:0011675
6338	SCNN1B	Hypokalemic alkalosis	HP:0001949
6338	SCNN1B	Recurrent respiratory infections	HP:0002205
6338	SCNN1B	Vomiting	HP:0002013
6338	SCNN1B	Diarrhea	HP:0002014
6338	SCNN1B	Decreased circulating aldosterone level	HP:0004319
6338	SCNN1B	Constipation	HP:0002019
6338	SCNN1B	Failure to thrive	HP:0001508
6338	SCNN1B	Feeding difficulties in infancy	HP:0008872
6338	SCNN1B	Hyperkalemia	HP:0002153
6338	SCNN1B	Muscle weakness	HP:0001324
6338	SCNN1B	Nephropathy	HP:0000112
6338	SCNN1B	Metabolic alkalosis	HP:0200114
6338	SCNN1B	Pseudohypoaldosteronism	HP:0008242
6338	SCNN1B	Chronic bronchitis	HP:0004469
6338	SCNN1B	Hypertension	HP:0000822
6338	SCNN1B	Hypotension	HP:0002615
6338	SCNN1B	Bronchiectasis	HP:0002110
6338	SCNN1B	Renal salt wasting	HP:0000127
80067	DCAF17	Prominent nose	HP:0000448
80067	DCAF17	Psychosis	HP:0000709
80067	DCAF17	Triangular face	HP:0000325
80067	DCAF17	Hyperlipidemia	HP:0003077
80067	DCAF17	Sparse hair	HP:0008070
80067	DCAF17	Autosomal recessive inheritance	HP:0000007
80067	DCAF17	Hypoplasia of the uterus	HP:0000013
80067	DCAF17	Abnormal T-wave	HP:0005135
80067	DCAF17	Premature ovarian insufficiency	HP:0008209
80067	DCAF17	Decreased serum insulin-like growth factor 1	HP:0030353
80067	DCAF17	Decreased serum estradiol	HP:0008214
80067	DCAF17	Sensorineural hearing impairment	HP:0000407
80067	DCAF17	Abnormality of extrapyramidal motor function	HP:0002071
80067	DCAF17	Protruding ear	HP:0000411
80067	DCAF17	Abnormal spermatogenesis	HP:0008669
80067	DCAF17	Decreased testicular size	HP:0008734
80067	DCAF17	Streak ovary	HP:0010464
80067	DCAF17	Intellectual disability	HP:0001249
80067	DCAF17	Anodontia	HP:0000674
80067	DCAF17	Hallucinations	HP:0000738
80067	DCAF17	Fine hair	HP:0002213
80067	DCAF17	Aplasia/Hypoplasia of the eyebrow	HP:0100840
80067	DCAF17	Prominent nasal bridge	HP:0000426
80067	DCAF17	Decreased serum testosterone level	HP:0040171
80067	DCAF17	Bilateral sensorineural hearing impairment	HP:0008619
80067	DCAF17	Dysarthria	HP:0001260
80067	DCAF17	Hypogonadotrophic hypogonadism	HP:0000044
80067	DCAF17	Increased thyroid-stimulating hormone level	HP:0002925
80067	DCAF17	Hypergonadotropic hypogonadism	HP:0000815
80067	DCAF17	Choreoathetosis	HP:0001266
80067	DCAF17	Diabetes mellitus	HP:0000819
80067	DCAF17	Mental deterioration	HP:0001268
80067	DCAF17	Dystonia	HP:0001332
80067	DCAF17	Hypothyroidism	HP:0000821
80067	DCAF17	Micropenis	HP:0000054
80067	DCAF17	Hypoplasia of the fallopian tube	HP:0008697
80067	DCAF17	Alopecia	HP:0001596
80067	DCAF17	Insulin-resistant diabetes mellitus	HP:0000831
6340	SCNN1G	Autosomal dominant inheritance	HP:0000006
6340	SCNN1G	Autosomal recessive inheritance	HP:0000007
6340	SCNN1G	Hyperactive renin-angiotensin system	HP:0000841
6340	SCNN1G	Infantile onset	HP:0003593
6340	SCNN1G	Cerebral ischemia	HP:0002637
6340	SCNN1G	Renal insufficiency	HP:0000083
6340	SCNN1G	Hypokalemia	HP:0002900
6340	SCNN1G	Metabolic acidosis	HP:0001942
6340	SCNN1G	Hyponatremia	HP:0002902
6340	SCNN1G	Decreased circulating renin level	HP:0003351
6340	SCNN1G	Dehydration	HP:0001944
6340	SCNN1G	Fatigue	HP:0012378
6340	SCNN1G	Hyperaldosteronism	HP:0000859
6340	SCNN1G	Arrhythmia	HP:0011675
6340	SCNN1G	Recurrent respiratory infections	HP:0002205
6340	SCNN1G	Vomiting	HP:0002013
6340	SCNN1G	Diarrhea	HP:0002014
6340	SCNN1G	Constipation	HP:0002019
6340	SCNN1G	Failure to thrive	HP:0001508
6340	SCNN1G	Feeding difficulties in infancy	HP:0008872
6340	SCNN1G	Hyperkalemia	HP:0002153
6340	SCNN1G	Muscle weakness	HP:0001324
6340	SCNN1G	Nephropathy	HP:0000112
6340	SCNN1G	Metabolic alkalosis	HP:0200114
6340	SCNN1G	Pseudohypoaldosteronism	HP:0008242
6340	SCNN1G	Chronic bronchitis	HP:0004469
6340	SCNN1G	Hypertension	HP:0000822
6340	SCNN1G	Hypotension	HP:0002615
6340	SCNN1G	Bronchiectasis	HP:0002110
6340	SCNN1G	Renal salt wasting	HP:0000127
768206	PRCD	Abnormal electroretinogram	HP:0000512
768206	PRCD	Hyperreflexia	HP:0001347
768206	PRCD	Cataract	HP:0000518
768206	PRCD	Hypogonadism	HP:0000135
768206	PRCD	Autosomal recessive inheritance	HP:0000007
768206	PRCD	Optic atrophy	HP:0000648
768206	PRCD	Hyperinsulinemia	HP:0000842
768206	PRCD	Anteverted nares	HP:0000463
768206	PRCD	Conductive hearing impairment	HP:0000405
768206	PRCD	Sensorineural hearing impairment	HP:0000407
768206	PRCD	Abnormality of retinal pigmentation	HP:0007703
768206	PRCD	Ophthalmoplegia	HP:0000602
768206	PRCD	Type II diabetes mellitus	HP:0005978
768206	PRCD	Atypical scarring of skin	HP:0000987
768206	PRCD	Optic disc pallor	HP:0000543
768206	PRCD	Hypoplasia of penis	HP:0008736
768206	PRCD	Macular degeneration	HP:0000608
768206	PRCD	Intellectual disability	HP:0001249
768206	PRCD	Abnormal testis morphology	HP:0000035
768206	PRCD	Attenuation of retinal blood vessels	HP:0007843
768206	PRCD	Photophobia	HP:0000613
768206	PRCD	Undetectable electroretinogram	HP:0000550
768206	PRCD	Obesity	HP:0001513
768206	PRCD	Blindness	HP:0000618
768206	PRCD	Abnormal retinal vascular morphology	HP:0008046
768206	PRCD	Wide nasal bridge	HP:0000431
768206	PRCD	Keratoconus	HP:0000563
768206	PRCD	Glaucoma	HP:0000501
768206	PRCD	Bone spicule pigmentation of the retina	HP:0007737
768206	PRCD	Progressive night blindness	HP:0007675
768206	PRCD	Rod-cone dystrophy	HP:0000510
768206	PRCD	Nystagmus	HP:0000639
6341	SCO1	Hepatomegaly	HP:0002240
6341	SCO1	Decreased liver function	HP:0001410
6341	SCO1	Pigmentary retinopathy	HP:0000580
6341	SCO1	Glycosuria	HP:0003076
6341	SCO1	Autosomal recessive inheritance	HP:0000007
6341	SCO1	Optic atrophy	HP:0000648
6341	SCO1	Generalized hypotonia	HP:0001290
6341	SCO1	Renal Fanconi syndrome	HP:0001994
6341	SCO1	Increased intramyocellular lipid droplets	HP:0012240
6341	SCO1	Heterogeneous	HP:0001425
6341	SCO1	Mitochondrial inheritance	HP:0001427
6341	SCO1	Sensorineural hearing impairment	HP:0000407
6341	SCO1	Exercise intolerance	HP:0003546
6341	SCO1	Aminoaciduria	HP:0003355
6341	SCO1	Proteinuria	HP:0000093
6341	SCO1	Intellectual disability	HP:0001249
6341	SCO1	Seizures	HP:0001250
6341	SCO1	Ataxia	HP:0001251
6341	SCO1	Failure to thrive	HP:0001508
6341	SCO1	Muscular hypotonia	HP:0001252
6341	SCO1	Increased hepatocellular lipid droplets	HP:0006565
6341	SCO1	Hyperphosphaturia	HP:0003109
6341	SCO1	Hypertrophic cardiomyopathy	HP:0001639
6341	SCO1	Increased serum lactate	HP:0002151
6341	SCO1	Cytochrome C oxidase-negative muscle fibers	HP:0003688
6341	SCO1	Global developmental delay	HP:0001263
6341	SCO1	Anemia	HP:0001903
6341	SCO1	Leukoencephalopathy	HP:0002352
6341	SCO1	Respiratory distress	HP:0002098
6341	SCO1	Motor delay	HP:0001270
6341	SCO1	Lactic acidosis	HP:0003128
6341	SCO1	Increased CSF lactate	HP:0002490
6341	SCO1	Exertional dyspnea	HP:0002875
6341	SCO1	Respiratory insufficiency due to muscle weakness	HP:0002747
6341	SCO1	Renal tubular dysfunction	HP:0000124
6341	SCO1	Ptosis	HP:0000508
6342	SCP2	Leukoencephalopathy	HP:0002352
6342	SCP2	Intention tremor	HP:0002080
6342	SCP2	Abnormal motor neuron morphology	HP:0002450
6342	SCP2	Peripheral neuropathy	HP:0009830
6342	SCP2	Autosomal recessive inheritance	HP:0000007
6342	SCP2	Abnormality of thalamus morphology	HP:0010663
6342	SCP2	Torticollis	HP:0000473
6342	SCP2	Hyposmia	HP:0004409
6342	SCP2	Abnormal saccadic eye movements	HP:0000570
6342	SCP2	Head tremor	HP:0002346
6342	SCP2	Azoospermia	HP:0000027
6342	SCP2	Hypergonadotropic hypogonadism	HP:0000815
653509	SFTPA1	Gastroesophageal reflux	HP:0002020
653509	SFTPA1	Clubbing of fingers	HP:0100759
653509	SFTPA1	Honeycomb lung	HP:0025175
653509	SFTPA1	Ground-glass opacification on pulmonary HRCT	HP:0025179
653509	SFTPA1	Exertional dyspnea	HP:0002875
653509	SFTPA1	Pulmonary insufficiency	HP:0010444
653509	SFTPA1	Crackles	HP:0030830
653509	SFTPA1	Pulmonary fibrosis	HP:0002206
653509	SFTPA1	Bronchiectasis	HP:0002110
653509	SFTPA1	Reticular pattern on pulmonary HRCT	HP:0025390
653509	SFTPA1	Cough	HP:0012735
55503	TRPV6	Thin ribs	HP:0000883
55503	TRPV6	Elevated alkaline phosphatase	HP:0003155
55503	TRPV6	Femoral bowing	HP:0002980
55503	TRPV6	Short ribs	HP:0000773
55503	TRPV6	Motor delay	HP:0001270
55503	TRPV6	Delayed speech and language development	HP:0000750
55505	NOP10	Small nail	HP:0001792
55505	NOP10	Aplastic/hypoplastic toenail	HP:0010624
55505	NOP10	Aplasia/Hypoplasia of the skin	HP:0008065
55505	NOP10	Abnormal blistering of the skin	HP:0008066
55505	NOP10	Avascular necrosis	HP:0010885
55505	NOP10	Cataract	HP:0000518
55505	NOP10	Sparse hair	HP:0008070
55505	NOP10	Autosomal recessive inheritance	HP:0000007
55505	NOP10	Abnormality of female internal genitalia	HP:0000008
55505	NOP10	Abnormality of coagulation	HP:0001928
55505	NOP10	Hypermelanotic macule	HP:0001034
55505	NOP10	Sparse eyelashes	HP:0000653
55505	NOP10	Tracheoesophageal fistula	HP:0002575
55505	NOP10	Displacement of the urethral meatus	HP:0100627
55505	NOP10	Abnormal eyebrow morphology	HP:0000534
55505	NOP10	Bone marrow hypocellularity	HP:0005528
55505	NOP10	Hypodontia	HP:0000668
55505	NOP10	Recurrent respiratory infections	HP:0002205
55505	NOP10	Hypopigmented skin patches	HP:0001053
55505	NOP10	Pulmonary fibrosis	HP:0002206
55505	NOP10	Carious teeth	HP:0000670
55505	NOP10	Sparse scalp hair	HP:0002209
55505	NOP10	Pterygium	HP:0001059
55505	NOP10	Abnormal testis morphology	HP:0000035
55505	NOP10	Taurodontia	HP:0000679
55505	NOP10	Premature graying of hair	HP:0002216
55505	NOP10	Osteoporosis	HP:0000939
55505	NOP10	Microdontia	HP:0000691
55505	NOP10	Diabetes mellitus	HP:0000819
55505	NOP10	Hyperpigmentation of the skin	HP:0000953
55505	NOP10	Oral leukoplakia	HP:0002745
55505	NOP10	Anorectal anomaly	HP:0012732
55505	NOP10	Alopecia	HP:0001596
55505	NOP10	Rough bone trabeculation	HP:0100670
55505	NOP10	Hepatomegaly	HP:0002240
55505	NOP10	Periodontitis	HP:0000704
55505	NOP10	Nasolacrimal duct obstruction	HP:0000579
55505	NOP10	Recurrent fractures	HP:0002757
55505	NOP10	Epiphora	HP:0009926
55505	NOP10	Hypoplasia of the maxilla	HP:0000327
55505	NOP10	Neoplasm of the pancreas	HP:0002894
55505	NOP10	Abnormal fingernail morphology	HP:0001231
55505	NOP10	Hyperhidrosis	HP:0000975
55505	NOP10	Splenomegaly	HP:0001744
55505	NOP10	Thrombocytopenia	HP:0001873
55505	NOP10	Cerebral calcification	HP:0002514
55505	NOP10	Esophageal stenosis	HP:0010450
55505	NOP10	Abnormality of neutrophils	HP:0001874
55505	NOP10	Nail dystrophy	HP:0008404
55505	NOP10	Urethral stenosis	HP:0008661
55505	NOP10	Palmoplantar keratoderma	HP:0000982
55505	NOP10	Abnormality of the pharynx	HP:0000600
55505	NOP10	Scoliosis	HP:0002650
55505	NOP10	Intellectual disability	HP:0001249
55505	NOP10	Short stature	HP:0004322
55505	NOP10	White hair	HP:0011364
55505	NOP10	Skin vesicle	HP:0200037
55505	NOP10	Intrauterine growth retardation	HP:0001511
55505	NOP10	Malabsorption	HP:0002024
55505	NOP10	Telangiectasia of the skin	HP:0100585
55505	NOP10	Skin ulcer	HP:0200042
55505	NOP10	Lymphoma	HP:0002665
55505	NOP10	Hearing impairment	HP:0000365
55505	NOP10	Anemia	HP:0001903
55505	NOP10	Global developmental delay	HP:0001263
55505	NOP10	Blepharitis	HP:0000498
55505	NOP10	Cirrhosis	HP:0001394
55505	NOP10	Hepatic fibrosis	HP:0001395
55505	NOP10	Abnormal eyelash morphology	HP:0000499
55505	NOP10	Nail dysplasia	HP:0002164
55505	NOP10	Pterygium of nails	HP:0002165
55505	NOP10	Hepatic failure	HP:0001399
55505	NOP10	Esophageal stricture	HP:0002043
55505	NOP10	Aplastic anemia	HP:0001915
55505	NOP10	Microcephaly	HP:0000252
55505	NOP10	Cellular immunodeficiency	HP:0005374
145624	PWAR1	Clinodactyly	HP:0030084
145624	PWAR1	Acromicria	HP:0031878
145624	PWAR1	Syndactyly	HP:0001159
145624	PWAR1	Generalized hypotonia	HP:0001290
145624	PWAR1	Dolichocephaly	HP:0000268
145624	PWAR1	Primary amenorrhea	HP:0000786
145624	PWAR1	Infertility	HP:0000789
145624	PWAR1	Decreased fetal movement	HP:0001558
145624	PWAR1	Downturned corners of mouth	HP:0002714
145624	PWAR1	Cryptorchidism	HP:0000028
145624	PWAR1	Hypermetropia	HP:0000540
145624	PWAR1	Recurrent respiratory infections	HP:0002205
145624	PWAR1	Carious teeth	HP:0000670
145624	PWAR1	Polyphagia	HP:0002591
145624	PWAR1	Impaired pain sensation	HP:0007328
145624	PWAR1	Sporadic	HP:0003745
145624	PWAR1	Myopia	HP:0000545
145624	PWAR1	Sleep apnea	HP:0010535
145624	PWAR1	Neonatal hypotonia	HP:0001319
145624	PWAR1	Genu valgum	HP:0002857
145624	PWAR1	Osteopenia	HP:0000938
145624	PWAR1	Osteoporosis	HP:0000939
145624	PWAR1	Hypogonadotrophic hypogonadism	HP:0000044
145624	PWAR1	Scrotal hypoplasia	HP:0000046
145624	PWAR1	Specific learning disability	HP:0001328
145624	PWAR1	Iris hypopigmentation	HP:0007730
145624	PWAR1	Esotropia	HP:0000565
145624	PWAR1	Micropenis	HP:0000054
145624	PWAR1	Delayed puberty	HP:0000823
145624	PWAR1	Short palm	HP:0004279
145624	PWAR1	Growth hormone deficiency	HP:0000824
145624	PWAR1	Precocious puberty	HP:0000826
145624	PWAR1	Narrow palm	HP:0004283
145624	PWAR1	Frontal upsweep of hair	HP:0002236
145624	PWAR1	Clitoral hypoplasia	HP:0000060
145624	PWAR1	Narrow nasal bridge	HP:0000446
145624	PWAR1	Hypoplastic labia minora	HP:0000064
145624	PWAR1	Almond-shaped palpebral fissure	HP:0007874
145624	PWAR1	Psychosis	HP:0000709
145624	PWAR1	Upslanted palpebral fissure	HP:0000582
145624	PWAR1	Ventriculomegaly	HP:0002119
145624	PWAR1	Abdominal obesity	HP:0012743
145624	PWAR1	Hyperinsulinemia	HP:0000842
145624	PWAR1	Nasal speech	HP:0001611
145624	PWAR1	Autism	HP:0000717
145624	PWAR1	Adrenal insufficiency	HP:0000846
145624	PWAR1	Temperature instability	HP:0005968
145624	PWAR1	Narrow forehead	HP:0000341
145624	PWAR1	Generalized hypopigmentation	HP:0007513
145624	PWAR1	Type II diabetes mellitus	HP:0005978
145624	PWAR1	Scoliosis	HP:0002650
145624	PWAR1	Thin upper lip vermilion	HP:0000219
145624	PWAR1	Hypopigmentation of hair	HP:0005599
145624	PWAR1	Cutaneous photosensitivity	HP:0000992
145624	PWAR1	Seizures	HP:0001250
145624	PWAR1	Short stature	HP:0004322
145624	PWAR1	Poor fine motor coordination	HP:0007010
145624	PWAR1	Poor gross motor coordination	HP:0007015
145624	PWAR1	Hypoventilation	HP:0002791
145624	PWAR1	Hip dysplasia	HP:0001385
145624	PWAR1	Attention deficit hyperactivity disorder	HP:0007018
145624	PWAR1	Oligomenorrhea	HP:0000876
145624	PWAR1	Short foot	HP:0001773
145624	PWAR1	Delayed speech and language development	HP:0000750
145624	PWAR1	Global developmental delay	HP:0001263
145624	PWAR1	Poor suck	HP:0002033
145624	PWAR1	Small hand	HP:0200055
145624	PWAR1	Motor delay	HP:0001270
145624	PWAR1	Kyphosis	HP:0002808
145624	PWAR1	Radial deviation of finger	HP:0009466
145624	PWAR1	Failure to thrive in infancy	HP:0001531
145624	PWAR1	Decreased muscle mass	HP:0003199
112858	TP53RK	Camptodactyly of finger	HP:0100490
112858	TP53RK	Cerebral atrophy	HP:0002059
112858	TP53RK	Polymicrogyria	HP:0002126
112858	TP53RK	Macrotia	HP:0000400
112858	TP53RK	Pachygyria	HP:0001302
112858	TP53RK	Hemiplegia/hemiparesis	HP:0004374
112858	TP53RK	Premature birth	HP:0001622
112858	TP53RK	Hypotelorism	HP:0000601
112858	TP53RK	Micrognathia	HP:0000347
112858	TP53RK	Adducted thumb	HP:0001181
112858	TP53RK	Proteinuria	HP:0000093
112858	TP53RK	Glomerulosclerosis	HP:0000096
112858	TP53RK	Abnormality of immune system physiology	HP:0010978
112858	TP53RK	Short stature	HP:0004322
112858	TP53RK	Seizures	HP:0001250
112858	TP53RK	Nephrotic syndrome	HP:0000100
112858	TP53RK	Abnormality of the dentition	HP:0000164
112858	TP53RK	Muscular hypotonia	HP:0001252
112858	TP53RK	Intrauterine growth retardation	HP:0001511
112858	TP53RK	Cerebellar hypoplasia	HP:0001321
112858	TP53RK	Spasticity	HP:0001257
112858	TP53RK	Aqueductal stenosis	HP:0002410
112858	TP53RK	Delayed speech and language development	HP:0000750
112858	TP53RK	Global developmental delay	HP:0001263
112858	TP53RK	Diffuse mesangial sclerosis	HP:0001967
112858	TP53RK	Nephropathy	HP:0000112
112858	TP53RK	Hypoplasia of the ear cartilage	HP:0100720
112858	TP53RK	EEG abnormality	HP:0002353
112858	TP53RK	Abnormality of the intervertebral disk	HP:0005108
112858	TP53RK	Hiatus hernia	HP:0002036
112858	TP53RK	Visual impairment	HP:0000505
112858	TP53RK	Microcephaly	HP:0000252
112858	TP53RK	Hypertelorism	HP:0000316
112858	TP53RK	Hypertonia	HP:0001276
112858	TP53RK	Cognitive impairment	HP:0100543
112858	TP53RK	Stage 5 chronic kidney disease	HP:0003774
55521	TRIM36	Anencephaly	HP:0002323
55521	TRIM36	Congenital onset	HP:0003577
55521	TRIM36	Spina bifida	HP:0002414
55526	DHTKD1	Skeletal muscle atrophy	HP:0003202
55526	DHTKD1	Sensory impairment	HP:0003474
55526	DHTKD1	Difficulty walking	HP:0002355
55526	DHTKD1	Autosomal dominant inheritance	HP:0000006
55526	DHTKD1	Autosomal recessive inheritance	HP:0000007
55526	DHTKD1	Intellectual disability, mild	HP:0001256
55526	DHTKD1	Generalized hypotonia	HP:0001290
55526	DHTKD1	Attention deficit hyperactivity disorder	HP:0007018
55526	DHTKD1	Aminoaciduria	HP:0003355
55526	DHTKD1	Microcephaly	HP:0000252
55526	DHTKD1	Delayed speech and language development	HP:0000750
55526	DHTKD1	Global developmental delay	HP:0001263
55532	SLC30A10	Hepatomegaly	HP:0002240
55532	SLC30A10	Portal hypertension	HP:0001409
55532	SLC30A10	Decreased liver function	HP:0001410
55532	SLC30A10	Micronodular cirrhosis	HP:0001413
55532	SLC30A10	Autosomal recessive inheritance	HP:0000007
55532	SLC30A10	Abnormal transferrin saturation	HP:0040135
55532	SLC30A10	Spastic paraparesis	HP:0002313
55532	SLC30A10	Astrocytosis	HP:0002446
55532	SLC30A10	Rigidity	HP:0002063
55532	SLC30A10	Abnormal basal ganglia MRI signal intensity	HP:0012751
55532	SLC30A10	Splenomegaly	HP:0001744
55532	SLC30A10	Hypomimic face	HP:0000338
55532	SLC30A10	Bradykinesia	HP:0002067
55532	SLC30A10	Parkinsonism	HP:0001300
55532	SLC30A10	Abnormal globus pallidus morphology	HP:0002453
55532	SLC30A10	Prolonged prothrombin time	HP:0008151
55532	SLC30A10	Hyperbilirubinemia	HP:0002904
55532	SLC30A10	Dysdiadochokinesis	HP:0002075
55532	SLC30A10	Elevated hepatic transaminase	HP:0002910
55532	SLC30A10	Truncal ataxia	HP:0002078
55532	SLC30A10	Abnormal myelination	HP:0012447
55532	SLC30A10	Vitamin E deficiency	HP:0100513
55532	SLC30A10	Poor fine motor coordination	HP:0007010
55532	SLC30A10	Sensorimotor neuropathy	HP:0007141
55532	SLC30A10	Peripheral neuropathy	HP:0009830
55532	SLC30A10	Hypertrophic cardiomyopathy	HP:0001639
55532	SLC30A10	Action tremor	HP:0002345
55532	SLC30A10	Copper accumulation in liver	HP:0025321
55532	SLC30A10	Hyperglycinemia	HP:0002154
55532	SLC30A10	Increased total iron binding capacity	HP:0025196
55532	SLC30A10	Dysarthria	HP:0001260
55532	SLC30A10	Polycythemia	HP:0001901
55532	SLC30A10	Abnormal blood inorganic cation concentration	HP:0010927
55532	SLC30A10	Steppage gait	HP:0003376
55532	SLC30A10	Abnormality of amino acid metabolism	HP:0004337
55532	SLC30A10	Cirrhosis	HP:0001394
55532	SLC30A10	Difficulty walking	HP:0002355
55532	SLC30A10	Variable expressivity	HP:0003828
55532	SLC30A10	Dystonia	HP:0001332
55532	SLC30A10	Decreased serum ferritin	HP:0012343
55532	SLC30A10	Esophageal varix	HP:0002040
55532	SLC30A10	Jaundice	HP:0000952
55532	SLC30A10	Tremor	HP:0001337
55532	SLC30A10	Postural instability	HP:0002172
55532	SLC30A10	Microcephaly	HP:0000252
6389	SDHA	Hypercalcemia	HP:0003072
6389	SDHA	Mild microcephaly	HP:0040196
6389	SDHA	Spastic tetraparesis	HP:0001285
6389	SDHA	Autosomal dominant inheritance	HP:0000006
6389	SDHA	Autosomal recessive inheritance	HP:0000007
6389	SDHA	Infantile onset	HP:0003593
6389	SDHA	Spastic paraparesis	HP:0002313
6389	SDHA	Generalized hypotonia	HP:0001290
6389	SDHA	Decreased activity of mitochondrial respiratory chain	HP:0008972
6389	SDHA	Psychomotor retardation	HP:0025356
6389	SDHA	Cranial nerve compression	HP:0001293
6389	SDHA	Aniridia	HP:0000526
6389	SDHA	Episodic abdominal pain	HP:0002574
6389	SDHA	Focal T2 hyperintense basal ganglia lesion	HP:0007183
6389	SDHA	Noncompaction cardiomyopathy	HP:0012817
6389	SDHA	Elevated urinary norepinephrine	HP:0003345
6389	SDHA	Hematuria	HP:0000790
6389	SDHA	Progressive cerebellar ataxia	HP:0002073
6389	SDHA	Recurrent paroxysmal headache	HP:0002331
6389	SDHA	Motor deterioration	HP:0002333
6389	SDHA	Abnormal atrioventricular conduction	HP:0005150
6389	SDHA	External ophthalmoplegia	HP:0000544
6389	SDHA	Weight loss	HP:0001824
6389	SDHA	Stress/infection-induced lactic acidosis	HP:0004897
6389	SDHA	Paroxysmal vertigo	HP:0010532
6389	SDHA	Neonatal hypotonia	HP:0001319
6389	SDHA	Left ventricular dysfunction	HP:0005162
6389	SDHA	Muscle weakness	HP:0001324
6389	SDHA	Loss of ability to walk	HP:0006957
6389	SDHA	Episodic hyperhidrosis	HP:0001069
6389	SDHA	Respiratory insufficiency	HP:0002093
6389	SDHA	Paraganglioma of head and neck	HP:0002864
6389	SDHA	Dystonia	HP:0001332
6389	SDHA	Flushing	HP:0031284
6389	SDHA	Frequent falls	HP:0002359
6389	SDHA	Elevated urinary epinephrine	HP:0003639
6389	SDHA	Apnea	HP:0002104
6389	SDHA	Myoclonus	HP:0001336
6389	SDHA	Lactic acidosis	HP:0003128
6389	SDHA	Tremor	HP:0001337
6389	SDHA	Easy fatigability	HP:0003388
6389	SDHA	Cerebral hemorrhage	HP:0001342
6389	SDHA	Respiratory failure	HP:0002878
6389	SDHA	Hyperreflexia	HP:0001347
6389	SDHA	Pigmentary retinopathy	HP:0000580
6389	SDHA	Progressive leukoencephalopathy	HP:0006980
6389	SDHA	Vocal cord paralysis	HP:0001605
6389	SDHA	Hypertensive retinopathy	HP:0001095
6389	SDHA	Developmental regression	HP:0002376
6389	SDHA	Generalized myoclonic seizures	HP:0002123
6389	SDHA	Vesicoureteral reflux	HP:0000076
6389	SDHA	Moderate global developmental delay	HP:0011343
6389	SDHA	Extraadrenal pheochromocytoma	HP:0006737
6389	SDHA	Abnormality of neutrophils	HP:0001874
6389	SDHA	Dysphonia	HP:0001618
6389	SDHA	Fatigue	HP:0012378
6389	SDHA	Ophthalmoplegia	HP:0000602
6389	SDHA	Flexion contracture	HP:0001371
6389	SDHA	Adrenal pheochromocytoma	HP:0006748
6389	SDHA	Progressive	HP:0003676
6389	SDHA	Ventricular septal defect	HP:0001629
6389	SDHA	Proteinuria	HP:0000093
6389	SDHA	Intestinal obstruction	HP:0005214
6389	SDHA	Glomerulosclerosis	HP:0000096
6389	SDHA	Neoplasm of the stomach	HP:0006753
6389	SDHA	Congestive heart failure	HP:0001635
6389	SDHA	Peripheral neuropathy	HP:0009830
6389	SDHA	Increased serum lactate	HP:0002151
6389	SDHA	Hypertrophic cardiomyopathy	HP:0001639
6389	SDHA	Segmental myoclonic seizures	HP:0025191
6389	SDHA	Progressive psychomotor deterioration	HP:0007272
6389	SDHA	Blindness	HP:0000618
6389	SDHA	Dilated cardiomyopathy	HP:0001644
6389	SDHA	Progressive spastic paraplegia	HP:0007020
6389	SDHA	Paraganglioma	HP:0002668
6389	SDHA	Hearing impairment	HP:0000365
6389	SDHA	Distal amyotrophy	HP:0003693
6389	SDHA	Anemia	HP:0001903
6389	SDHA	Leukodystrophy	HP:0002415
6389	SDHA	Abnormality of the liver	HP:0001392
6389	SDHA	Intellectual disability, severe	HP:0010864
6389	SDHA	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
6389	SDHA	Gastrointestinal stroma tumor	HP:0100723
6389	SDHA	Poor head control	HP:0002421
6389	SDHA	Proximal muscle weakness	HP:0003701
6389	SDHA	Decreased activity of mitochondrial complex II	HP:0008314
6389	SDHA	Gliosis	HP:0002171
6389	SDHA	Abnormal mitochondria in muscle tissue	HP:0008316
6389	SDHA	Hepatocellular necrosis	HP:0001404
6389	SDHA	Myopathy	HP:0003198
6389	SDHA	Nystagmus	HP:0000639
6389	SDHA	Ragged-red muscle fibers	HP:0003200
6389	SDHA	EMG abnormality	HP:0003457
6389	SDHA	Neoplasm of the rectum	HP:0100743
6389	SDHA	Optic atrophy	HP:0000648
6389	SDHA	CNS demyelination	HP:0007305
6389	SDHA	Chest pain	HP:0100749
6389	SDHA	Esophageal neoplasm	HP:0100751
6389	SDHA	Hyperactive deep tendon reflexes	HP:0006801
6389	SDHA	Heterogeneous	HP:0001425
6389	SDHA	Sarcoma	HP:0100242
6389	SDHA	Mitochondrial inheritance	HP:0001427
6389	SDHA	Conductive hearing impairment	HP:0000405
6389	SDHA	Sensorineural hearing impairment	HP:0000407
6389	SDHA	Babinski sign	HP:0003487
6389	SDHA	Elevated serum creatine kinase	HP:0003236
6389	SDHA	Feeding difficulties in infancy	HP:0008872
6389	SDHA	Expressive language delay	HP:0002474
6389	SDHA	Palpitations	HP:0001962
6389	SDHA	Hyperactive patellar reflex	HP:0007083
6389	SDHA	Skeletal myopathy	HP:0003756
6389	SDHA	Neoplasm of the colon	HP:0100273
6389	SDHA	Left ventricular hypertrophy	HP:0001712
6389	SDHA	Panic attack	HP:0025269
6389	SDHA	Pulsatile tinnitus	HP:0008629
6389	SDHA	Severe short stature	HP:0003510
6389	SDHA	Hyperreflexia in upper limbs	HP:0007350
6389	SDHA	Sinus tachycardia	HP:0011703
6389	SDHA	Increased CSF lactate	HP:0002490
6389	SDHA	Cognitive impairment	HP:0100543
6389	SDHA	Arachnoid hemangiomatosis	HP:0012222
6389	SDHA	Gastrointestinal hemorrhage	HP:0002239
6389	SDHA	Emotional lability	HP:0000712
6389	SDHA	Elevated calcitonin	HP:0003528
6389	SDHA	Elevated urinary dopamine	HP:0011979
6389	SDHA	Increased intramyocellular lipid droplets	HP:0012240
6389	SDHA	Renal cell carcinoma	HP:0005584
6389	SDHA	Pallor	HP:0000980
6389	SDHA	Palmoplantar keratoderma	HP:0000982
6389	SDHA	Dementia	HP:0000726
6389	SDHA	Exercise intolerance	HP:0003546
6389	SDHA	Left ventricular noncompaction	HP:0030682
6389	SDHA	Skin rash	HP:0000988
6389	SDHA	Dysphagia	HP:0002015
6389	SDHA	Neoplasm of the small intestine	HP:0100833
6389	SDHA	Nausea and vomiting	HP:0002017
6389	SDHA	Irritability	HP:0000737
6389	SDHA	Intellectual disability	HP:0001249
6389	SDHA	Seizures	HP:0001250
6389	SDHA	Short stature	HP:0004322
6389	SDHA	Nausea	HP:0002018
6389	SDHA	Constipation	HP:0002019
6389	SDHA	Lipoatrophy	HP:0100578
6389	SDHA	Ataxia	HP:0001251
6389	SDHA	Failure to thrive	HP:0001508
6389	SDHA	Muscular hypotonia	HP:0001252
6389	SDHA	Episodic paroxysmal anxiety	HP:0000740
6389	SDHA	Strabismus	HP:0000486
6389	SDHA	Hypertrichosis	HP:0000998
6389	SDHA	Intrauterine growth retardation	HP:0001511
6389	SDHA	Irregular hyperpigmentation	HP:0007400
6389	SDHA	Spasticity	HP:0001257
6389	SDHA	Abnormal pattern of respiration	HP:0002793
6389	SDHA	Dysarthria	HP:0001260
6389	SDHA	Knee flexion contracture	HP:0006380
6389	SDHA	Global developmental delay	HP:0001263
6389	SDHA	Lower limb hypertonia	HP:0006895
6389	SDHA	Retinal capillary hemangioma	HP:0009711
6389	SDHA	Motor delay	HP:0001270
6389	SDHA	Positive regitine blocking test	HP:0003574
6389	SDHA	Visual impairment	HP:0000505
6389	SDHA	Ptosis	HP:0000508
6389	SDHA	Generalized muscle weakness	HP:0003324
6390	SDHB	Lipoma	HP:0012032
6390	SDHB	Macrocephaly	HP:0000256
6390	SDHB	Hypercalcemia	HP:0003072
6390	SDHB	Urticaria	HP:0001025
6390	SDHB	Gynecomastia	HP:0000771
6390	SDHB	Hemangioma	HP:0001028
6390	SDHB	Mild microcephaly	HP:0040196
6390	SDHB	Spastic tetraparesis	HP:0001285
6390	SDHB	Cataract	HP:0000518
6390	SDHB	Autosomal dominant inheritance	HP:0000006
6390	SDHB	Developmental cataract	HP:0000519
6390	SDHB	Spastic paraparesis	HP:0002313
6390	SDHB	Generalized hypotonia	HP:0001290
6390	SDHB	Cranial nerve compression	HP:0001293
6390	SDHB	Aniridia	HP:0000526
6390	SDHB	Episodic abdominal pain	HP:0002574
6390	SDHB	Elevated urinary norepinephrine	HP:0003345
6390	SDHB	Noncompaction cardiomyopathy	HP:0012817
6390	SDHB	Hematuria	HP:0000790
6390	SDHB	Cavernous hemangioma	HP:0001048
6390	SDHB	Recurrent paroxysmal headache	HP:0002331
6390	SDHB	Hypopigmented skin patches	HP:0001053
6390	SDHB	Motor deterioration	HP:0002333
6390	SDHB	Bone cyst	HP:0012062
6390	SDHB	Abnormal atrioventricular conduction	HP:0005150
6390	SDHB	Weight loss	HP:0001824
6390	SDHB	External ophthalmoplegia	HP:0000544
6390	SDHB	Myopia	HP:0000545
6390	SDHB	Abnormality of the penis	HP:0000036
6390	SDHB	Paroxysmal vertigo	HP:0010532
6390	SDHB	Abnormal cerebellum morphology	HP:0001317
6390	SDHB	Hamartomatous polyposis	HP:0004390
6390	SDHB	Meningioma	HP:0002858
6390	SDHB	Left ventricular dysfunction	HP:0005162
6390	SDHB	Neurofibromas	HP:0001067
6390	SDHB	Melanoma	HP:0002861
6390	SDHB	Loss of ability to walk	HP:0006957
6390	SDHB	Episodic hyperhidrosis	HP:0001069
6390	SDHB	Paraganglioma of head and neck	HP:0002864
6390	SDHB	Flushing	HP:0031284
6390	SDHB	Frequent falls	HP:0002359
6390	SDHB	Elevated urinary epinephrine	HP:0003639
6390	SDHB	Tremor	HP:0001337
6390	SDHB	Easy fatigability	HP:0003388
6390	SDHB	Cerebral hemorrhage	HP:0001342
6390	SDHB	Pigmentary retinopathy	HP:0000580
6390	SDHB	Vocal cord paralysis	HP:0001605
6390	SDHB	Hypertensive retinopathy	HP:0001095
6390	SDHB	Developmental regression	HP:0002376
6390	SDHB	Follicular thyroid carcinoma	HP:0006731
6390	SDHB	Generalized myoclonic seizures	HP:0002123
6390	SDHB	Vesicoureteral reflux	HP:0000076
6390	SDHB	Moderate global developmental delay	HP:0011343
6390	SDHB	Hypertension associated with pheochromocytoma	HP:0002640
6390	SDHB	Extraadrenal pheochromocytoma	HP:0006737
6390	SDHB	Endometrial carcinoma	HP:0012114
6390	SDHB	Dysphonia	HP:0001618
6390	SDHB	Goiter	HP:0000853
6390	SDHB	Scoliosis	HP:0002650
6390	SDHB	Fatigue	HP:0012378
6390	SDHB	Adrenal pheochromocytoma	HP:0006748
6390	SDHB	Proteinuria	HP:0000093
6390	SDHB	Intestinal obstruction	HP:0005214
6390	SDHB	Glomerulosclerosis	HP:0000096
6390	SDHB	Papule	HP:0200034
6390	SDHB	Neoplasm of the stomach	HP:0006753
6390	SDHB	Congestive heart failure	HP:0001635
6390	SDHB	Segmental myoclonic seizures	HP:0025191
6390	SDHB	Hypertrophic cardiomyopathy	HP:0001639
6390	SDHB	Tinnitus	HP:0000360
6390	SDHB	Neoplasm	HP:0002664
6390	SDHB	Progressive psychomotor deterioration	HP:0007272
6390	SDHB	Pheochromocytoma	HP:0002666
6390	SDHB	Blindness	HP:0000618
6390	SDHB	Episodic hypertension	HP:0000875
6390	SDHB	Paraganglioma	HP:0002668
6390	SDHB	Hearing impairment	HP:0000365
6390	SDHB	Distal amyotrophy	HP:0003693
6390	SDHB	Anemia	HP:0001903
6390	SDHB	Abnormality of the liver	HP:0001392
6390	SDHB	Tachycardia	HP:0001649
6390	SDHB	Gastrointestinal stroma tumor	HP:0100723
6390	SDHB	Poor head control	HP:0002421
6390	SDHB	Proximal muscle weakness	HP:0003701
6390	SDHB	Chemodectoma	HP:0030074
6390	SDHB	Colorectal polyposis	HP:0200063
6390	SDHB	Nystagmus	HP:0000639
6390	SDHB	Renal artery stenosis	HP:0001920
6390	SDHB	Brachydactyly	HP:0001156
6390	SDHB	Neoplasm of the rectum	HP:0100743
6390	SDHB	Chest pain	HP:0100749
6390	SDHB	Multiple cafe-au-lait spots	HP:0007565
6390	SDHB	Esophageal neoplasm	HP:0100751
6390	SDHB	Hyperactive deep tendon reflexes	HP:0006801
6390	SDHB	Sarcoma	HP:0100242
6390	SDHB	Conductive hearing impairment	HP:0000405
6390	SDHB	Large hands	HP:0001176
6390	SDHB	Macroglossia	HP:0000158
6390	SDHB	Babinski sign	HP:0003487
6390	SDHB	Sporadic	HP:0003745
6390	SDHB	Cranial nerve paralysis	HP:0006824
6390	SDHB	Feeding difficulties in infancy	HP:0008872
6390	SDHB	Expressive language delay	HP:0002474
6390	SDHB	Palpitations	HP:0001962
6390	SDHB	Hyperactive patellar reflex	HP:0007083
6390	SDHB	Skeletal myopathy	HP:0003756
6390	SDHB	Conjunctival hamartoma	HP:0100780
6390	SDHB	Neoplasm of the colon	HP:0100273
6390	SDHB	Left ventricular hypertrophy	HP:0001712
6390	SDHB	Panic attack	HP:0025269
6390	SDHB	Pulsatile tinnitus	HP:0008629
6390	SDHB	Severe short stature	HP:0003510
6390	SDHB	Hyperreflexia in upper limbs	HP:0007350
6390	SDHB	Sinus tachycardia	HP:0011703
6390	SDHB	Hyperpigmentation of the skin	HP:0000953
6390	SDHB	Glomus jugular tumor	HP:0003001
6390	SDHB	Breast carcinoma	HP:0003002
6390	SDHB	Macule	HP:0012733
6390	SDHB	Cafe-au-lait spot	HP:0000957
6390	SDHB	Cognitive impairment	HP:0100543
6390	SDHB	Arachnoid hemangiomatosis	HP:0012222
6390	SDHB	Neuroblastoma	HP:0003006
6390	SDHB	Gastrointestinal hemorrhage	HP:0002239
6390	SDHB	Papilloma	HP:0012740
6390	SDHB	Elevated calcitonin	HP:0003528
6390	SDHB	Elevated urinary catecholamines	HP:0011976
6390	SDHB	Subcutaneous nodule	HP:0001482
6390	SDHB	Elevated urinary dopamine	HP:0011979
6390	SDHB	Autism	HP:0000717
6390	SDHB	Hyperhidrosis	HP:0000975
6390	SDHB	Renal cell carcinoma	HP:0005584
6390	SDHB	Neoplasm of the gastrointestinal tract	HP:0007378
6390	SDHB	Increased intracranial pressure	HP:0002516
6390	SDHB	Pallor	HP:0000980
6390	SDHB	Palmoplantar keratoderma	HP:0000982
6390	SDHB	Dementia	HP:0000726
6390	SDHB	High palate	HP:0000218
6390	SDHB	Generalized hyperkeratosis	HP:0005595
6390	SDHB	Skin rash	HP:0000988
6390	SDHB	Furrowed tongue	HP:0000221
6390	SDHB	Dysphagia	HP:0002015
6390	SDHB	Neoplasm of the small intestine	HP:0100833
6390	SDHB	Intellectual disability	HP:0001249
6390	SDHB	Nausea and vomiting	HP:0002017
6390	SDHB	Irritability	HP:0000737
6390	SDHB	Short stature	HP:0004322
6390	SDHB	Seizures	HP:0001250
6390	SDHB	Mucosal telangiectasiae	HP:0100579
6390	SDHB	Nausea	HP:0002018
6390	SDHB	Melanocytic nevus	HP:0000995
6390	SDHB	Enlarged polycystic ovaries	HP:0008675
6390	SDHB	Ataxia	HP:0001251
6390	SDHB	Constipation	HP:0002019
6390	SDHB	Failure to thrive	HP:0001508
6390	SDHB	Episodic paroxysmal anxiety	HP:0000740
6390	SDHB	Intrauterine growth retardation	HP:0001511
6390	SDHB	Irregular hyperpigmentation	HP:0007400
6390	SDHB	Abdominal pain	HP:0002027
6390	SDHB	Knee flexion contracture	HP:0006380
6390	SDHB	Global developmental delay	HP:0001263
6390	SDHB	Lower limb hypertonia	HP:0006895
6390	SDHB	Retinal capillary hemangioma	HP:0009711
6390	SDHB	Incomplete penetrance	HP:0003829
6390	SDHB	Positive regitine blocking test	HP:0003574
6390	SDHB	Motor delay	HP:0001270
6390	SDHB	Adenoma sebaceum	HP:0009720
6390	SDHB	Kyphosis	HP:0002808
6390	SDHB	Generalized muscle weakness	HP:0003324
6390	SDHB	Adult onset	HP:0003581
6390	SDHB	Cellular immunodeficiency	HP:0005374
6390	SDHB	Pectus excavatum	HP:0000767
6391	SDHC	Lipoma	HP:0012032
6391	SDHC	Macrocephaly	HP:0000256
6391	SDHC	Hypercalcemia	HP:0003072
6391	SDHC	Urticaria	HP:0001025
6391	SDHC	Gynecomastia	HP:0000771
6391	SDHC	Elevated circulating catecholamine level	HP:0003334
6391	SDHC	Autosomal dominant inheritance	HP:0000006
6391	SDHC	Cataract	HP:0000518
6391	SDHC	Cranial nerve compression	HP:0001293
6391	SDHC	Aniridia	HP:0000526
6391	SDHC	Episodic abdominal pain	HP:0002574
6391	SDHC	Elevated urinary norepinephrine	HP:0003345
6391	SDHC	Hematuria	HP:0000790
6391	SDHC	Cavernous hemangioma	HP:0001048
6391	SDHC	Recurrent paroxysmal headache	HP:0002331
6391	SDHC	Hypopigmented skin patches	HP:0001053
6391	SDHC	Bone cyst	HP:0012062
6391	SDHC	Weight loss	HP:0001824
6391	SDHC	Myopia	HP:0000545
6391	SDHC	Abnormality of the penis	HP:0000036
6391	SDHC	Paroxysmal vertigo	HP:0010532
6391	SDHC	Abnormal cerebellum morphology	HP:0001317
6391	SDHC	Hamartomatous polyposis	HP:0004390
6391	SDHC	Meningioma	HP:0002858
6391	SDHC	Neurofibromas	HP:0001067
6391	SDHC	Melanoma	HP:0002861
6391	SDHC	Episodic hyperhidrosis	HP:0001069
6391	SDHC	Paraganglioma of head and neck	HP:0002864
6391	SDHC	Flushing	HP:0031284
6391	SDHC	Elevated urinary epinephrine	HP:0003639
6391	SDHC	Tremor	HP:0001337
6391	SDHC	Cerebral hemorrhage	HP:0001342
6391	SDHC	Vocal cord paralysis	HP:0001605
6391	SDHC	Hypertensive retinopathy	HP:0001095
6391	SDHC	Hoarse voice	HP:0001609
6391	SDHC	Follicular thyroid carcinoma	HP:0006731
6391	SDHC	Hypertension associated with pheochromocytoma	HP:0002640
6391	SDHC	Extraadrenal pheochromocytoma	HP:0006737
6391	SDHC	Endometrial carcinoma	HP:0012114
6391	SDHC	Dysphonia	HP:0001618
6391	SDHC	Goiter	HP:0000853
6391	SDHC	Scoliosis	HP:0002650
6391	SDHC	Fatigue	HP:0012378
6391	SDHC	Adrenal pheochromocytoma	HP:0006748
6391	SDHC	Proteinuria	HP:0000093
6391	SDHC	Intestinal obstruction	HP:0005214
6391	SDHC	Glomerulosclerosis	HP:0000096
6391	SDHC	Papule	HP:0200034
6391	SDHC	Neoplasm of the stomach	HP:0006753
6391	SDHC	Congestive heart failure	HP:0001635
6391	SDHC	Tinnitus	HP:0000360
6391	SDHC	Paraganglioma	HP:0002668
6391	SDHC	Hearing impairment	HP:0000365
6391	SDHC	Anemia	HP:0001903
6391	SDHC	Abnormality of the liver	HP:0001392
6391	SDHC	Tachycardia	HP:0001649
6391	SDHC	Gastrointestinal stroma tumor	HP:0100723
6391	SDHC	Chemodectoma	HP:0030074
6391	SDHC	Colorectal polyposis	HP:0200063
6391	SDHC	Brachydactyly	HP:0001156
6391	SDHC	Neoplasm of the rectum	HP:0100743
6391	SDHC	Chest pain	HP:0100749
6391	SDHC	Multiple cafe-au-lait spots	HP:0007565
6391	SDHC	Esophageal neoplasm	HP:0100751
6391	SDHC	Sarcoma	HP:0100242
6391	SDHC	Conductive hearing impairment	HP:0000405
6391	SDHC	Loss of voice	HP:0001686
6391	SDHC	Large hands	HP:0001176
6391	SDHC	Macroglossia	HP:0000158
6391	SDHC	Sporadic	HP:0003745
6391	SDHC	Cranial nerve paralysis	HP:0006824
6391	SDHC	Palpitations	HP:0001962
6391	SDHC	Conjunctival hamartoma	HP:0100780
6391	SDHC	Neoplasm of the colon	HP:0100273
6391	SDHC	Pulsatile tinnitus	HP:0008629
6391	SDHC	Panic attack	HP:0025269
6391	SDHC	Sinus tachycardia	HP:0011703
6391	SDHC	Glomus jugular tumor	HP:0003001
6391	SDHC	Hyperpigmentation of the skin	HP:0000953
6391	SDHC	Breast carcinoma	HP:0003002
6391	SDHC	Macule	HP:0012733
6391	SDHC	Cognitive impairment	HP:0100543
6391	SDHC	Arachnoid hemangiomatosis	HP:0012222
6391	SDHC	Gastrointestinal hemorrhage	HP:0002239
6391	SDHC	Papilloma	HP:0012740
6391	SDHC	Elevated calcitonin	HP:0003528
6391	SDHC	Subcutaneous nodule	HP:0001482
6391	SDHC	Elevated urinary dopamine	HP:0011979
6391	SDHC	Autism	HP:0000717
6391	SDHC	Hyperhidrosis	HP:0000975
6391	SDHC	Renal cell carcinoma	HP:0005584
6391	SDHC	Neoplasm of the gastrointestinal tract	HP:0007378
6391	SDHC	Increased intracranial pressure	HP:0002516
6391	SDHC	Pallor	HP:0000980
6391	SDHC	Palmoplantar keratoderma	HP:0000982
6391	SDHC	High palate	HP:0000218
6391	SDHC	Generalized hyperkeratosis	HP:0005595
6391	SDHC	Skin rash	HP:0000988
6391	SDHC	Furrowed tongue	HP:0000221
6391	SDHC	Dysphagia	HP:0002015
6391	SDHC	Neoplasm of the small intestine	HP:0100833
6391	SDHC	Intellectual disability	HP:0001249
6391	SDHC	Nausea and vomiting	HP:0002017
6391	SDHC	Short stature	HP:0004322
6391	SDHC	Seizures	HP:0001250
6391	SDHC	Mucosal telangiectasiae	HP:0100579
6391	SDHC	Nausea	HP:0002018
6391	SDHC	Melanocytic nevus	HP:0000995
6391	SDHC	Enlarged polycystic ovaries	HP:0008675
6391	SDHC	Ataxia	HP:0001251
6391	SDHC	Constipation	HP:0002019
6391	SDHC	Episodic paroxysmal anxiety	HP:0000740
6391	SDHC	Failure to thrive	HP:0001508
6391	SDHC	Irregular hyperpigmentation	HP:0007400
6391	SDHC	Abdominal pain	HP:0002027
6391	SDHC	Global developmental delay	HP:0001263
6391	SDHC	Retinal capillary hemangioma	HP:0009711
6391	SDHC	Positive regitine blocking test	HP:0003574
6391	SDHC	Adenoma sebaceum	HP:0009720
6391	SDHC	Kyphosis	HP:0002808
6391	SDHC	Adult onset	HP:0003581
6391	SDHC	Cellular immunodeficiency	HP:0005374
6391	SDHC	Pectus excavatum	HP:0000767
6392	SDHD	Hypercalcemia	HP:0003072
6392	SDHD	Hemangioma	HP:0001028
6392	SDHD	Cataract	HP:0000518
6392	SDHD	Autosomal dominant inheritance	HP:0000006
6392	SDHD	Developmental cataract	HP:0000519
6392	SDHD	Autosomal recessive inheritance	HP:0000007
6392	SDHD	Infantile onset	HP:0003593
6392	SDHD	Aniridia	HP:0000526
6392	SDHD	Episodic abdominal pain	HP:0002574
6392	SDHD	Noncompaction cardiomyopathy	HP:0012817
6392	SDHD	Cavernous hemangioma	HP:0001048
6392	SDHD	Hypopigmented skin patches	HP:0001053
6392	SDHD	Abnormal atrioventricular conduction	HP:0005150
6392	SDHD	External ophthalmoplegia	HP:0000544
6392	SDHD	Myopia	HP:0000545
6392	SDHD	Abnormality of the penis	HP:0000036
6392	SDHD	Left ventricular dysfunction	HP:0005162
6392	SDHD	Episodic hyperhidrosis	HP:0001069
6392	SDHD	Hepatic necrosis	HP:0002605
6392	SDHD	Asthma	HP:0002099
6392	SDHD	Flushing	HP:0031284
6392	SDHD	Elevated urinary epinephrine	HP:0003639
6392	SDHD	Glomus tympanicum paraganglioma	HP:0006715
6392	SDHD	Tricuspid regurgitation	HP:0005180
6392	SDHD	Small intestine carcinoid	HP:0006722
6392	SDHD	Intestinal carcinoid	HP:0006723
6392	SDHD	Pigmentary retinopathy	HP:0000580
6392	SDHD	Vocal cord paralysis	HP:0001605
6392	SDHD	Hypertensive retinopathy	HP:0001095
6392	SDHD	Increased serum serotonin	HP:0003144
6392	SDHD	Hoarse voice	HP:0001609
6392	SDHD	Follicular thyroid carcinoma	HP:0006731
6392	SDHD	Generalized myoclonic seizures	HP:0002123
6392	SDHD	Vesicoureteral reflux	HP:0000076
6392	SDHD	Moderate global developmental delay	HP:0011343
6392	SDHD	Hypertension associated with pheochromocytoma	HP:0002640
6392	SDHD	Extraadrenal pheochromocytoma	HP:0006737
6392	SDHD	Dysphonia	HP:0001618
6392	SDHD	Scoliosis	HP:0002650
6392	SDHD	Ophthalmoplegia	HP:0000602
6392	SDHD	Fatigue	HP:0012378
6392	SDHD	Adrenal pheochromocytoma	HP:0006748
6392	SDHD	Proteinuria	HP:0000093
6392	SDHD	Intestinal obstruction	HP:0005214
6392	SDHD	Glomerulosclerosis	HP:0000096
6392	SDHD	Congestive heart failure	HP:0001635
6392	SDHD	Hypertrophic cardiomyopathy	HP:0001639
6392	SDHD	Increased serum lactate	HP:0002151
6392	SDHD	Segmental myoclonic seizures	HP:0025191
6392	SDHD	Neoplasm	HP:0002664
6392	SDHD	Progressive psychomotor deterioration	HP:0007272
6392	SDHD	Pheochromocytoma	HP:0002666
6392	SDHD	Blindness	HP:0000618
6392	SDHD	Paraganglioma	HP:0002668
6392	SDHD	Dilated cardiomyopathy	HP:0001644
6392	SDHD	Distal amyotrophy	HP:0003693
6392	SDHD	Tachycardia	HP:0001649
6392	SDHD	Proximal muscle weakness	HP:0003701
6392	SDHD	Decreased activity of mitochondrial complex II	HP:0008314
6392	SDHD	Abnormal mitochondria in muscle tissue	HP:0008316
6392	SDHD	Myopathy	HP:0003198
6392	SDHD	Nystagmus	HP:0000639
6392	SDHD	Ragged-red muscle fibers	HP:0003200
6392	SDHD	Brachydactyly	HP:0001156
6392	SDHD	Optic atrophy	HP:0000648
6392	SDHD	Hyperactive deep tendon reflexes	HP:0006801
6392	SDHD	Loss of voice	HP:0001686
6392	SDHD	Macroglossia	HP:0000158
6392	SDHD	Cranial nerve paralysis	HP:0006824
6392	SDHD	Feeding difficulties in infancy	HP:0008872
6392	SDHD	Chronic noninfectious lymphadenopathy	HP:0002730
6392	SDHD	Skeletal myopathy	HP:0003756
6392	SDHD	Right ventricular failure	HP:0001708
6392	SDHD	Left ventricular hypertrophy	HP:0001712
6392	SDHD	Panic attack	HP:0025269
6392	SDHD	Hyperreflexia in upper limbs	HP:0007350
6392	SDHD	Rhinorrhea	HP:0031417
6392	SDHD	Cognitive impairment	HP:0100543
6392	SDHD	Gastrointestinal hemorrhage	HP:0002239
6392	SDHD	Epiphora	HP:0009926
6392	SDHD	Elevated urinary dopamine	HP:0011979
6392	SDHD	Autism	HP:0000717
6392	SDHD	Neoplasm of the gastrointestinal tract	HP:0007378
6392	SDHD	Facial telangiectasia	HP:0007380
6392	SDHD	Dementia	HP:0000726
6392	SDHD	High palate	HP:0000218
6392	SDHD	Furrowed tongue	HP:0000221
6392	SDHD	Intellectual disability	HP:0001249
6392	SDHD	Irritability	HP:0000737
6392	SDHD	Short stature	HP:0004322
6392	SDHD	Seizures	HP:0001250
6392	SDHD	Mucosal telangiectasiae	HP:0100579
6392	SDHD	Ataxia	HP:0001251
6392	SDHD	Episodic paroxysmal anxiety	HP:0000740
6392	SDHD	Spasticity	HP:0001257
6392	SDHD	Knee flexion contracture	HP:0006380
6392	SDHD	Atypical pulmonary carcinoid tumor	HP:0030446
6392	SDHD	Global developmental delay	HP:0001263
6392	SDHD	Lower limb hypertonia	HP:0006895
6392	SDHD	Motor delay	HP:0001270
6392	SDHD	Kyphosis	HP:0002808
6392	SDHD	Generalized muscle weakness	HP:0003324
6392	SDHD	Cellular immunodeficiency	HP:0005374
6392	SDHD	Pectus excavatum	HP:0000767
6392	SDHD	Lipoma	HP:0012032
6392	SDHD	Macrocephaly	HP:0000256
6392	SDHD	Gynecomastia	HP:0000771
6392	SDHD	Mild microcephaly	HP:0040196
6392	SDHD	Spastic tetraparesis	HP:0001285
6392	SDHD	Elevated circulating catecholamine level	HP:0003334
6392	SDHD	Spastic paraparesis	HP:0002313
6392	SDHD	Generalized hypotonia	HP:0001290
6392	SDHD	Cranial nerve compression	HP:0001293
6392	SDHD	Elevated urinary norepinephrine	HP:0003345
6392	SDHD	Hematuria	HP:0000790
6392	SDHD	Recurrent paroxysmal headache	HP:0002331
6392	SDHD	Motor deterioration	HP:0002333
6392	SDHD	Bone cyst	HP:0012062
6392	SDHD	Weight loss	HP:0001824
6392	SDHD	Stress/infection-induced lactic acidosis	HP:0004897
6392	SDHD	Protracted diarrhea	HP:0004385
6392	SDHD	Paroxysmal vertigo	HP:0010532
6392	SDHD	Abnormal cerebellum morphology	HP:0001317
6392	SDHD	Hamartomatous polyposis	HP:0004390
6392	SDHD	Neonatal hypotonia	HP:0001319
6392	SDHD	Meningioma	HP:0002858
6392	SDHD	Muscle weakness	HP:0001324
6392	SDHD	Melanoma	HP:0002861
6392	SDHD	Loss of ability to walk	HP:0006957
6392	SDHD	Paraganglioma of head and neck	HP:0002864
6392	SDHD	Dystonia	HP:0001332
6392	SDHD	Frequent falls	HP:0002359
6392	SDHD	Myoclonus	HP:0001336
6392	SDHD	Tremor	HP:0001337
6392	SDHD	Easy fatigability	HP:0003388
6392	SDHD	Cerebral hemorrhage	HP:0001342
6392	SDHD	Hyperreflexia	HP:0001347
6392	SDHD	Progressive leukoencephalopathy	HP:0006980
6392	SDHD	Vagal paraganglioma	HP:0002886
6392	SDHD	Developmental regression	HP:0002376
6392	SDHD	Endometrial carcinoma	HP:0012114
6392	SDHD	Bronchospasm	HP:0025428
6392	SDHD	Goiter	HP:0000853
6392	SDHD	Flexion contracture	HP:0001371
6392	SDHD	Elevated hepatic transaminase	HP:0002910
6392	SDHD	Papule	HP:0200034
6392	SDHD	Tinnitus	HP:0000360
6392	SDHD	Episodic hypertension	HP:0000875
6392	SDHD	Hearing impairment	HP:0000365
6392	SDHD	Gastrointestinal stroma tumor	HP:0100723
6392	SDHD	Poor head control	HP:0002421
6392	SDHD	Chemodectoma	HP:0030074
6392	SDHD	Colorectal polyposis	HP:0200063
6392	SDHD	Renal artery stenosis	HP:0001920
6392	SDHD	Erythematous plaque	HP:0025474
6392	SDHD	Chest pain	HP:0100749
6392	SDHD	Multiple cafe-au-lait spots	HP:0007565
6392	SDHD	Conductive hearing impairment	HP:0000405
6392	SDHD	Babinski sign	HP:0003487
6392	SDHD	Abnormal B-type natriuretic peptide level	HP:0031138
6392	SDHD	Palpitations	HP:0001962
6392	SDHD	Expressive language delay	HP:0002474
6392	SDHD	Hyperactive patellar reflex	HP:0007083
6392	SDHD	Conjunctival hamartoma	HP:0100780
6392	SDHD	Pulsatile tinnitus	HP:0008629
6392	SDHD	Severe short stature	HP:0003510
6392	SDHD	Sinus tachycardia	HP:0011703
6392	SDHD	Glomus jugular tumor	HP:0003001
6392	SDHD	Breast carcinoma	HP:0003002
6392	SDHD	Macule	HP:0012733
6392	SDHD	Cafe-au-lait spot	HP:0000957
6392	SDHD	Arachnoid hemangiomatosis	HP:0012222
6392	SDHD	Lack of bowel sounds	HP:0030145
6392	SDHD	Papilloma	HP:0012740
6392	SDHD	Heart murmur	HP:0030148
6392	SDHD	Elevated calcitonin	HP:0003528
6392	SDHD	Subcutaneous nodule	HP:0001482
6392	SDHD	Hyperhidrosis	HP:0000975
6392	SDHD	Renal cell carcinoma	HP:0005584
6392	SDHD	Increased intramyocellular lipid droplets	HP:0012240
6392	SDHD	Increased intracranial pressure	HP:0002516
6392	SDHD	Pallor	HP:0000980
6392	SDHD	Palmoplantar keratoderma	HP:0000982
6392	SDHD	Night sweats	HP:0030166
6392	SDHD	Exercise intolerance	HP:0003546
6392	SDHD	Left ventricular noncompaction	HP:0030682
6392	SDHD	Generalized hyperkeratosis	HP:0005595
6392	SDHD	Dysphagia	HP:0002015
6392	SDHD	Nausea and vomiting	HP:0002017
6392	SDHD	Nausea	HP:0002018
6392	SDHD	Melanocytic nevus	HP:0000995
6392	SDHD	Enlarged polycystic ovaries	HP:0008675
6392	SDHD	Failure to thrive	HP:0001508
6392	SDHD	Intrauterine growth retardation	HP:0001511
6392	SDHD	Abdominal pain	HP:0002027
6392	SDHD	Retinal capillary hemangioma	HP:0009711
6392	SDHD	Positive regitine blocking test	HP:0003574
6392	SDHD	Adenoma sebaceum	HP:0009720
6392	SDHD	Visual impairment	HP:0000505
6392	SDHD	Ptosis	HP:0000508
6392	SDHD	Adult onset	HP:0003581
6399	TRAPPC2	Short femoral neck	HP:0100864
6399	TRAPPC2	Disproportionate short-trunk short stature	HP:0003521
6399	TRAPPC2	Short thorax	HP:0010306
6399	TRAPPC2	Hip osteoarthritis	HP:0008843
6399	TRAPPC2	X-linked recessive inheritance	HP:0001419
6399	TRAPPC2	Arthralgia	HP:0002829
6399	TRAPPC2	Opacification of the corneal stroma	HP:0007759
6399	TRAPPC2	Barrel-shaped chest	HP:0001552
6399	TRAPPC2	Hypoplasia of the capital femoral epiphysis	HP:0003090
6399	TRAPPC2	Shield chest	HP:0000914
6399	TRAPPC2	Short neck	HP:0000470
6399	TRAPPC2	Irregular epiphyses	HP:0010582
6399	TRAPPC2	Scoliosis	HP:0002650
6399	TRAPPC2	Platyspondyly	HP:0000926
6399	TRAPPC2	Spondyloepiphyseal dysplasia	HP:0002655
6399	TRAPPC2	Upper limb undergrowth	HP:0009824
6399	TRAPPC2	Limitation of joint mobility	HP:0001376
6399	TRAPPC2	Abnormality of epiphysis morphology	HP:0005930
6399	TRAPPC2	Disproportionate short stature	HP:0003498
6399	TRAPPC2	Hypoplasia of the odontoid process	HP:0003311
6399	TRAPPC2	Hypoplastic iliac wing	HP:0002866
6399	TRAPPC2	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	HP:0004594
6399	TRAPPC2	Kyphosis	HP:0002808
6399	TRAPPC2	Lumbar hyperlordosis	HP:0002938
6399	TRAPPC2	Coxa vara	HP:0002812
6399	TRAPPC2	Thoracic kyphosis	HP:0002942
22796	COG2	Seizures	HP:0001250
22796	COG2	Generalized tonic seizures	HP:0010818
22796	COG2	Decreased liver function	HP:0001410
22796	COG2	Autosomal recessive inheritance	HP:0000007
22796	COG2	Infantile onset	HP:0003593
22796	COG2	Diffuse cerebral atrophy	HP:0002506
22796	COG2	Postnatal microcephaly	HP:0005484
22796	COG2	Spastic tetraplegia	HP:0002510
22796	COG2	Global developmental delay	HP:0001263
22796	COG2	Decreased serum ceruloplasmin	HP:0010837
22796	COG2	Abnormal glycosylation	HP:0012345
22796	COG2	Hepatosplenomegaly	HP:0001433
22796	COG2	Small pituitary gland	HP:0012506
22796	COG2	Elevated hepatic transaminase	HP:0002910
22796	COG2	Hypoplasia of the corpus callosum	HP:0002079
22796	COG2	Decreased circulating copper concentration	HP:0011967
80144	FRAS1	Aplasia/Hypoplasia of the thumb	HP:0009601
80144	FRAS1	Umbilical hernia	HP:0001537
80144	FRAS1	Multicystic kidney dysplasia	HP:0000003
80144	FRAS1	Omphalocele	HP:0001539
80144	FRAS1	Autosomal recessive inheritance	HP:0000007
80144	FRAS1	Abnormality of the thymus	HP:0000777
80144	FRAS1	Abnormal umbilicus morphology	HP:0001551
80144	FRAS1	Midline nasal groove	HP:0004112
80144	FRAS1	Anophthalmia	HP:0000528
80144	FRAS1	Vaginal atresia	HP:0000148
80144	FRAS1	Corneal opacity	HP:0007957
80144	FRAS1	Conductive hearing impairment	HP:0000405
80144	FRAS1	Abnormality of the anus	HP:0004378
80144	FRAS1	Cryptorchidism	HP:0000028
80144	FRAS1	Atresia of the external auditory canal	HP:0000413
80144	FRAS1	Depressed nasal bridge	HP:0005280
80144	FRAS1	Hypoplasia of penis	HP:0008736
80144	FRAS1	Morphological abnormality of the middle ear	HP:0008609
80144	FRAS1	Encephalocele	HP:0002084
80144	FRAS1	Dental crowding	HP:0000678
80144	FRAS1	Aplasia/Hypoplasia of the phalanges of the hand	HP:0009767
80144	FRAS1	Pulmonary hypoplasia	HP:0002089
80144	FRAS1	Myelomeningocele	HP:0002475
80144	FRAS1	Bicornuate uterus	HP:0000813
80144	FRAS1	Ectopic anus	HP:0004397
80144	FRAS1	Underdeveloped nasal alae	HP:0000430
80144	FRAS1	Laryngeal atresia	HP:0008750
80144	FRAS1	Scrotal hypoplasia	HP:0000046
80144	FRAS1	Cleft palate	HP:0000175
80144	FRAS1	Absent eyebrow	HP:0002223
80144	FRAS1	Hypospadias	HP:0000047
80144	FRAS1	Wide nasal bridge	HP:0000431
80144	FRAS1	Dental malocclusion	HP:0000689
80144	FRAS1	Absent eyelashes	HP:0000561
80144	FRAS1	Abnormal lung lobation	HP:0002101
80144	FRAS1	Micropenis	HP:0000054
80144	FRAS1	Difficulty in tongue movements	HP:0000183
80144	FRAS1	Microphthalmia	HP:0000568
80144	FRAS1	Malformed lacrimal duct	HP:0007993
80144	FRAS1	Bifid tongue	HP:0010297
80144	FRAS1	Aplasia/Hypoplasia of the sternum	HP:0006714
80144	FRAS1	Cutaneous finger syndactyly	HP:0010554
80144	FRAS1	Hypertelorism	HP:0000316
80144	FRAS1	Wide nose	HP:0000445
80144	FRAS1	Laryngeal web	HP:0005950
80144	FRAS1	Ambiguous genitalia	HP:0000062
80144	FRAS1	Laryngeal stenosis	HP:0001602
80144	FRAS1	Choanal stenosis	HP:0000452
80144	FRAS1	Abnormality of the small intestine	HP:0002244
80144	FRAS1	Urethral atresia	HP:0000068
80144	FRAS1	Subglottic stenosis	HP:0001607
80144	FRAS1	Cleft upper lip	HP:0000204
80144	FRAS1	Extension of hair growth on temples to lateral eyebrow	HP:0005325
80144	FRAS1	Bilateral microphthalmos	HP:0007633
80144	FRAS1	Calvarial skull defect	HP:0001362
80144	FRAS1	Wide intermamillary distance	HP:0006610
80144	FRAS1	Finger syndactyly	HP:0006101
80144	FRAS1	Facial cleft	HP:0002006
80144	FRAS1	Abnormality of cardiovascular system morphology	HP:0030680
80144	FRAS1	Renal hypoplasia	HP:0000089
80144	FRAS1	Clitoral hypertrophy	HP:0008665
80144	FRAS1	Tracheal stenosis	HP:0002777
80144	FRAS1	Female pseudohermaphroditism	HP:0010458
80144	FRAS1	High palate	HP:0000218
80144	FRAS1	Abnormal heart morphology	HP:0001627
80144	FRAS1	Vertebral segmentation defect	HP:0003422
80144	FRAS1	Abnormal hair pattern	HP:0010720
80144	FRAS1	Intellectual disability	HP:0001249
80144	FRAS1	Renal hypoplasia/aplasia	HP:0008678
80144	FRAS1	Cryptophthalmos	HP:0001126
80144	FRAS1	Anal atresia	HP:0002023
80144	FRAS1	Severe T-cell immunodeficiency	HP:0005352
80144	FRAS1	Abnormal cortical gyration	HP:0002536
80144	FRAS1	Anal stenosis	HP:0002025
80144	FRAS1	Blindness	HP:0000618
80144	FRAS1	Toe syndactyly	HP:0001770
80144	FRAS1	Hydrocephalus	HP:0000238
80144	FRAS1	Hypoplastic superior helix	HP:0008559
80144	FRAS1	Wide pubic symphysis	HP:0003183
80144	FRAS1	Low-set, posteriorly rotated ears	HP:0000368
80144	FRAS1	Low-set ears	HP:0000369
80144	FRAS1	Death in infancy	HP:0001522
80144	FRAS1	Lacrimal duct aplasia	HP:0007925
80144	FRAS1	Cleft ala nasi	HP:0003191
80144	FRAS1	Abnormality of the pinna	HP:0000377
80144	FRAS1	Cupped ear	HP:0000378
80144	FRAS1	Upper eyelid coloboma	HP:0000636
80144	FRAS1	Microcephaly	HP:0000252
80144	FRAS1	External ear malformation	HP:0008572
22802	CLCA4	Hepatomegaly	HP:0002240
22802	CLCA4	Immunodeficiency	HP:0002721
22802	CLCA4	Biliary cirrhosis	HP:0002613
22802	CLCA4	Malabsorption	HP:0002024
22802	CLCA4	Decreased antibody level in blood	HP:0004313
22802	CLCA4	Exocrine pancreatic insufficiency	HP:0001738
22802	CLCA4	Recurrent respiratory infections	HP:0002205
22802	CLCA4	Pulmonary fibrosis	HP:0002206
6418	SET	Delayed ability to walk	HP:0031936
6418	SET	Poor speech	HP:0002465
6418	SET	Intellectual disability	HP:0001249
6418	SET	Seizures	HP:0001250
6418	SET	Facial asymmetry	HP:0000324
6418	SET	Joint hypermobility	HP:0001382
6418	SET	Dental crowding	HP:0000678
6418	SET	Autosomal dominant inheritance	HP:0000006
6418	SET	Incoordination	HP:0002311
6418	SET	Generalized hypotonia	HP:0001290
6418	SET	Plagiocephaly	HP:0001357
6418	SET	Delayed speech and language development	HP:0000750
6418	SET	Wide nasal bridge	HP:0000431
6418	SET	Global developmental delay	HP:0001263
6418	SET	Abnormal facial shape	HP:0001999
6418	SET	Macrotia	HP:0000400
6418	SET	Thick vermilion border	HP:0012471
6418	SET	Wide mouth	HP:0000154
6418	SET	High palate	HP:0000218
6418	SET	Microcephaly	HP:0000252
6418	SET	Hypertelorism	HP:0000316
317719	KLHL10	Abnormal sperm morphology	HP:0012864
317719	KLHL10	Infertility	HP:0000789
317719	KLHL10	Increased circulating gonadotropin level	HP:0000837
317719	KLHL10	Autosomal dominant inheritance	HP:0000006
317719	KLHL10	Non-obstructive azoospermia	HP:0011961
317719	KLHL10	Obstructive azoospermia	HP:0011962
317719	KLHL10	Decreased testicular size	HP:0008734
55572	FOXRED1	Athetosis	HP:0002305
55572	FOXRED1	Hyperreflexia	HP:0001347
55572	FOXRED1	Pigmentary retinopathy	HP:0000580
55572	FOXRED1	Ventriculomegaly	HP:0002119
55572	FOXRED1	Optic atrophy	HP:0000648
55572	FOXRED1	Emotional lability	HP:0000712
55572	FOXRED1	Infantile onset	HP:0003593
55572	FOXRED1	Generalized hypotonia	HP:0001290
55572	FOXRED1	Decreased activity of mitochondrial respiratory chain	HP:0008972
55572	FOXRED1	Rigidity	HP:0002063
55572	FOXRED1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
55572	FOXRED1	Hypoglycemia	HP:0001943
55572	FOXRED1	Progressive cerebellar ataxia	HP:0002073
55572	FOXRED1	Ophthalmoplegia	HP:0000602
55572	FOXRED1	Ventricular septal defect	HP:0001629
55572	FOXRED1	Delayed myelination	HP:0012448
55572	FOXRED1	Cerebral visual impairment	HP:0100704
55572	FOXRED1	Poor speech	HP:0002465
55572	FOXRED1	Seizures	HP:0001250
55572	FOXRED1	Failure to thrive	HP:0001508
55572	FOXRED1	Muscular hypotonia	HP:0001252
55572	FOXRED1	Strabismus	HP:0000486
55572	FOXRED1	Hypertrichosis	HP:0000998
55572	FOXRED1	Peripheral neuropathy	HP:0009830
55572	FOXRED1	Increased serum lactate	HP:0002151
55572	FOXRED1	Hypertrophic cardiomyopathy	HP:0001639
55572	FOXRED1	Inability to walk	HP:0002540
55572	FOXRED1	Progressive spastic paraplegia	HP:0007020
55572	FOXRED1	Dysarthria	HP:0001260
55572	FOXRED1	Hearing impairment	HP:0000365
55572	FOXRED1	Global developmental delay	HP:0001263
55572	FOXRED1	Anemia	HP:0001903
55572	FOXRED1	Leukodystrophy	HP:0002415
55572	FOXRED1	Intellectual disability, severe	HP:0010864
55572	FOXRED1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
55572	FOXRED1	Dystonia	HP:0001332
55572	FOXRED1	Myoclonus	HP:0001336
55572	FOXRED1	Cerebellar atrophy	HP:0001272
55572	FOXRED1	Lactic acidosis	HP:0003128
55572	FOXRED1	Apnea	HP:0002104
55572	FOXRED1	Increased CSF lactate	HP:0002490
55572	FOXRED1	Abnormal mitochondria in muscle tissue	HP:0008316
55572	FOXRED1	Ptosis	HP:0000508
55572	FOXRED1	Nystagmus	HP:0000639
137492	VPS37A	Pectus carinatum	HP:0000768
137492	VPS37A	Failure to thrive	HP:0001508
137492	VPS37A	Hypertrichosis	HP:0000998
137492	VPS37A	Autosomal recessive inheritance	HP:0000007
137492	VPS37A	Ventriculomegaly	HP:0002119
137492	VPS37A	Gait disturbance	HP:0001288
137492	VPS37A	Spastic paraplegia	HP:0001258
137492	VPS37A	Cortical dysplasia	HP:0002539
137492	VPS37A	Hearing impairment	HP:0000365
137492	VPS37A	Delayed speech and language development	HP:0000750
137492	VPS37A	Global developmental delay	HP:0001263
137492	VPS37A	Impaired proprioception	HP:0010831
137492	VPS37A	Upper limb hypertonia	HP:0200049
137492	VPS37A	Limb dystonia	HP:0002451
137492	VPS37A	Dystonia	HP:0001332
137492	VPS37A	Abnormality of the auditory canal	HP:0000372
137492	VPS37A	Hyperreflexia in upper limbs	HP:0007350
137492	VPS37A	Kyphosis	HP:0002808
137492	VPS37A	Clonus	HP:0002169
137492	VPS37A	Hypertonia	HP:0001276
137492	VPS37A	Microcephaly	HP:0000252
137492	VPS37A	Joint hyperflexibility	HP:0005692
137492	VPS37A	Cognitive impairment	HP:0100543
137492	VPS37A	Impaired vibratory sensation	HP:0002495
6424	SFRP4	Limited elbow extension	HP:0001377
6424	SFRP4	Absent paranasal sinuses	HP:0002689
6424	SFRP4	Autosomal recessive inheritance	HP:0000007
6424	SFRP4	Metaphyseal widening	HP:0003016
6424	SFRP4	Genu valgum	HP:0002857
6424	SFRP4	Delayed eruption of teeth	HP:0000684
6424	SFRP4	Muscle weakness	HP:0001324
6424	SFRP4	Arthralgia	HP:0002829
6424	SFRP4	Mandibular prognathia	HP:0000303
6424	SFRP4	Hypoplastic frontal sinuses	HP:0002738
6424	SFRP4	Scoliosis	HP:0002650
6424	SFRP4	Thickened calvaria	HP:0002684
6424	SFRP4	Reduced bone mineral density	HP:0004349
6424	SFRP4	Abnormality of the thorax	HP:0000765
6424	SFRP4	Carious teeth	HP:0000670
6424	SFRP4	Metaphyseal dysplasia	HP:0100255
6424	SFRP4	Platyspondyly	HP:0000926
80153	EDC3	Autosomal recessive inheritance	HP:0000007
80153	EDC3	Sensorineural hearing impairment	HP:0000407
80153	EDC3	Intellectual disability, mild	HP:0001256
80153	EDC3	Infantile onset	HP:0003593
80153	EDC3	Microcephaly	HP:0000252
80155	NAA15	Intellectual disability	HP:0001249
80155	NAA15	Motor delay	HP:0001270
80155	NAA15	Autosomal dominant inheritance	HP:0000006
80155	NAA15	Autistic behavior	HP:0000729
80155	NAA15	Delayed speech and language development	HP:0000750
80155	NAA15	Global developmental delay	HP:0001263
6439	SFTPB	Clubbing	HP:0001217
6439	SFTPB	Cyanosis	HP:0000961
6439	SFTPB	Interstitial pulmonary abnormality	HP:0006530
6439	SFTPB	Failure to thrive	HP:0001508
6439	SFTPB	Tachypnea	HP:0002789
6439	SFTPB	Autosomal recessive inheritance	HP:0000007
6439	SFTPB	Infantile onset	HP:0003593
6439	SFTPB	Pulmonary arterial hypertension	HP:0002092
6439	SFTPB	Dyspnea	HP:0002094
6439	SFTPB	Heterogeneous	HP:0001425
6439	SFTPB	Respiratory distress	HP:0002098
6439	SFTPB	Abnormality of metabolism/homeostasis	HP:0001939
6439	SFTPB	Alveolar proteinosis	HP:0006517
6439	SFTPB	Desquamative interstitial pneumonitis	HP:0005942
6439	SFTPB	Apnea	HP:0002104
6439	SFTPB	Rapidly progressive	HP:0003678
6439	SFTPB	Respiratory failure	HP:0002878
6440	SFTPC	Clubbing	HP:0001217
6440	SFTPC	Cyanosis	HP:0000961
6440	SFTPC	Autosomal dominant inheritance	HP:0000006
6440	SFTPC	Tubulointerstitial fibrosis	HP:0005576
6440	SFTPC	Pulmonary insufficiency	HP:0010444
6440	SFTPC	Increased antibody level in blood	HP:0010702
6440	SFTPC	Heterogeneous	HP:0001425
6440	SFTPC	Clubbing of fingers	HP:0100759
6440	SFTPC	Honeycomb lung	HP:0025175
6440	SFTPC	Ground-glass opacification on pulmonary HRCT	HP:0025179
6440	SFTPC	Recurrent respiratory infections	HP:0002205
6440	SFTPC	Pulmonary fibrosis	HP:0002206
6440	SFTPC	Failure to thrive	HP:0001508
6440	SFTPC	Gastroesophageal reflux	HP:0002020
6440	SFTPC	Tachypnea	HP:0002789
6440	SFTPC	Pneumonia	HP:0002090
6440	SFTPC	Pulmonary arterial hypertension	HP:0002092
6440	SFTPC	Crackles	HP:0030830
6440	SFTPC	Reticular pattern on pulmonary HRCT	HP:0025390
6440	SFTPC	Cirrhosis	HP:0001394
6440	SFTPC	Respiratory distress	HP:0002098
6440	SFTPC	Interstitial pneumonitis	HP:0006515
6440	SFTPC	Incomplete penetrance	HP:0003829
6440	SFTPC	Alveolar proteinosis	HP:0006517
6440	SFTPC	Alveolar cell carcinoma	HP:0006519
6440	SFTPC	Exertional dyspnea	HP:0002875
6440	SFTPC	Bronchiectasis	HP:0002110
6440	SFTPC	Cough	HP:0012735
80169	CTC1	Aplastic/hypoplastic toenail	HP:0010624
80169	CTC1	Short femoral neck	HP:0100864
80169	CTC1	Aplasia/Hypoplasia of the skin	HP:0008065
80169	CTC1	Abnormal blistering of the skin	HP:0008066
80169	CTC1	Avascular necrosis	HP:0010885
80169	CTC1	Sparse hair	HP:0008070
80169	CTC1	Cataract	HP:0000518
80169	CTC1	Autosomal recessive inheritance	HP:0000007
80169	CTC1	Optic atrophy	HP:0000648
80169	CTC1	Abnormality of female internal genitalia	HP:0000008
80169	CTC1	Abnormality of coagulation	HP:0001928
80169	CTC1	Infantile onset	HP:0003593
80169	CTC1	Hypermelanotic macule	HP:0001034
80169	CTC1	Morphological abnormality of the pyramidal tract	HP:0002062
80169	CTC1	Tracheoesophageal fistula	HP:0002575
80169	CTC1	Displacement of the urethral meatus	HP:0100627
80169	CTC1	Abnormal eyebrow morphology	HP:0000534
80169	CTC1	Abnormality of extrapyramidal motor function	HP:0002071
80169	CTC1	Intestinal bleeding	HP:0002584
80169	CTC1	Bone marrow hypocellularity	HP:0005528
80169	CTC1	Hypodontia	HP:0000668
80169	CTC1	Recurrent respiratory infections	HP:0002205
80169	CTC1	Hypopigmented skin patches	HP:0001053
80169	CTC1	Carious teeth	HP:0000670
80169	CTC1	Abnormal testis morphology	HP:0000035
80169	CTC1	Taurodontia	HP:0000679
80169	CTC1	Premature graying of hair	HP:0002216
80169	CTC1	Genu valgum	HP:0002857
80169	CTC1	Osteopenia	HP:0000938
80169	CTC1	Osteoporosis	HP:0000939
80169	CTC1	Leukoencephalopathy	HP:0002352
80169	CTC1	Diabetes mellitus	HP:0000819
80169	CTC1	Dystonia	HP:0001332
80169	CTC1	Oral leukoplakia	HP:0002745
80169	CTC1	Tremor	HP:0001337
80169	CTC1	Anorectal anomaly	HP:0012732
80169	CTC1	Alopecia	HP:0001596
80169	CTC1	Rough bone trabeculation	HP:0100670
80169	CTC1	Hepatomegaly	HP:0002240
80169	CTC1	Periodontitis	HP:0000704
80169	CTC1	Postnatal growth retardation	HP:0008897
80169	CTC1	Thin skin	HP:0000963
80169	CTC1	Pathologic fracture	HP:0002756
80169	CTC1	Recurrent fractures	HP:0002757
80169	CTC1	Hypoplasia of the maxilla	HP:0000327
80169	CTC1	Neoplasm of the pancreas	HP:0002894
80169	CTC1	Abnormal fingernail morphology	HP:0001231
80169	CTC1	Hyperhidrosis	HP:0000975
80169	CTC1	Splenomegaly	HP:0001744
80169	CTC1	Thrombocytopenia	HP:0001873
80169	CTC1	Cerebral calcification	HP:0002514
80169	CTC1	Esophageal stenosis	HP:0010450
80169	CTC1	Abnormality of neutrophils	HP:0001874
80169	CTC1	Retinal telangiectasia	HP:0007763
80169	CTC1	Nail dystrophy	HP:0008404
80169	CTC1	Urethral stenosis	HP:0008661
80169	CTC1	Palmoplantar keratoderma	HP:0000982
80169	CTC1	Abnormal pyramidal sign	HP:0007256
80169	CTC1	Abnormality of the pharynx	HP:0000600
80169	CTC1	Exudative retinopathy	HP:0007898
80169	CTC1	Scoliosis	HP:0002650
80169	CTC1	Progressive	HP:0003676
80169	CTC1	Short stature	HP:0004322
80169	CTC1	Seizures	HP:0001250
80169	CTC1	Increased susceptibility to fractures	HP:0002659
80169	CTC1	Ataxia	HP:0001251
80169	CTC1	White hair	HP:0011364
80169	CTC1	Skin vesicle	HP:0200037
80169	CTC1	Intrauterine growth retardation	HP:0001511
80169	CTC1	Malabsorption	HP:0002024
80169	CTC1	Telangiectasia of the skin	HP:0100585
80169	CTC1	Spasticity	HP:0001257
80169	CTC1	Skin ulcer	HP:0200042
80169	CTC1	Lymphoma	HP:0002665
80169	CTC1	Blindness	HP:0000618
80169	CTC1	Dysarthria	HP:0001260
80169	CTC1	Hearing impairment	HP:0000365
80169	CTC1	Anemia	HP:0001903
80169	CTC1	Leukodystrophy	HP:0002415
80169	CTC1	Global developmental delay	HP:0001263
80169	CTC1	Blepharitis	HP:0000498
80169	CTC1	Cirrhosis	HP:0001394
80169	CTC1	Metaphyseal sclerosis	HP:0004979
80169	CTC1	Abnormal eyelash morphology	HP:0000499
80169	CTC1	Nail dysplasia	HP:0002164
80169	CTC1	Mental deterioration	HP:0001268
80169	CTC1	Hepatic failure	HP:0001399
80169	CTC1	Hemiplegia	HP:0002301
80169	CTC1	Cellular immunodeficiency	HP:0005374
6442	SGCA	Limb-girdle muscular dystrophy	HP:0006785
6442	SGCA	EMG: myopathic abnormalities	HP:0003458
6442	SGCA	Limited shoulder movement	HP:0006467
6442	SGCA	Autosomal recessive inheritance	HP:0000007
6442	SGCA	Unsteady gait	HP:0002317
6442	SGCA	Toe walking	HP:0040083
6442	SGCA	Waddling gait	HP:0002515
6442	SGCA	Calf muscle hypertrophy	HP:0008981
6442	SGCA	Limb-girdle muscle atrophy	HP:0003797
6442	SGCA	Scoliosis	HP:0002650
6442	SGCA	Flexion contracture	HP:0001371
6442	SGCA	Progressive	HP:0003676
6442	SGCA	Difficulty climbing stairs	HP:0003551
6442	SGCA	Elevated serum creatine kinase	HP:0003236
6442	SGCA	Juvenile onset	HP:0003621
6442	SGCA	Cardiomyopathy	HP:0001638
6442	SGCA	Muscular dystrophy	HP:0003560
6442	SGCA	Scapular winging	HP:0003691
6442	SGCA	Achilles tendon contracture	HP:0001771
6442	SGCA	Hyperlordosis	HP:0003307
6442	SGCA	Variable expressivity	HP:0003828
6442	SGCA	Frequent falls	HP:0002359
6442	SGCA	Calf muscle pseudohypertrophy	HP:0003707
6442	SGCA	Limb-girdle muscle weakness	HP:0003325
6442	SGCA	Gowers sign	HP:0003391
6442	SGCA	Thoracic scoliosis	HP:0002943
112939	NACC1	Absent speech	HP:0001344
112939	NACC1	Delayed myelination	HP:0012448
112939	NACC1	Feeding difficulties	HP:0011968
112939	NACC1	Intellectual disability	HP:0001249
112939	NACC1	Irritability	HP:0000737
112939	NACC1	Seizures	HP:0001250
112939	NACC1	Failure to thrive	HP:0001508
112939	NACC1	Autosomal dominant inheritance	HP:0000006
112939	NACC1	Cataract	HP:0000518
112939	NACC1	Broad nasal tip	HP:0000455
112939	NACC1	Spasticity	HP:0001257
112939	NACC1	Generalized hypotonia	HP:0001290
112939	NACC1	Cerebral atrophy	HP:0002059
112939	NACC1	Global developmental delay	HP:0001263
112939	NACC1	Difficulty walking	HP:0002355
112939	NACC1	Poor head control	HP:0002421
112939	NACC1	Scoliosis	HP:0002650
112939	NACC1	Flexion contracture	HP:0001371
112939	NACC1	Microcephaly	HP:0000252
112939	NACC1	Stereotypy	HP:0000733
22827	PUF60	Narrow chest	HP:0000774
22827	PUF60	Autosomal dominant inheritance	HP:0000006
22827	PUF60	Generalized hypotonia	HP:0001290
22827	PUF60	Hip dislocation	HP:0002827
22827	PUF60	Cerebral atrophy	HP:0002059
22827	PUF60	Long eyelashes	HP:0000527
22827	PUF60	Long toe	HP:0010511
22827	PUF60	Hypoplastic aortic arch	HP:0012304
22827	PUF60	Short 5th finger	HP:0009237
22827	PUF60	Inguinal hernia	HP:0000023
22827	PUF60	Short femur	HP:0003097
22827	PUF60	Oligohydramnios	HP:0001562
22827	PUF60	Epicanthus	HP:0000286
22827	PUF60	Hypoplasia of the corpus callosum	HP:0002079
22827	PUF60	Echolalia	HP:0010529
22827	PUF60	Full cheeks	HP:0000293
22827	PUF60	Intellectual disability, moderate	HP:0002342
22827	PUF60	Bilateral renal hypoplasia	HP:0012584
22827	PUF60	Oval face	HP:0000300
22827	PUF60	Rocker bottom foot	HP:0001838
22827	PUF60	Poor eye contact	HP:0000817
22827	PUF60	Respiratory distress	HP:0002098
22827	PUF60	Microretrognathia	HP:0000308
22827	PUF60	Abnormal lung lobation	HP:0002101
22827	PUF60	Dysplastic aortic valve	HP:0005176
22827	PUF60	Mesiodens	HP:0011067
22827	PUF60	Thick eyebrow	HP:0000574
22827	PUF60	Smooth philtrum	HP:0000319
22827	PUF60	Exotropia	HP:0000577
22827	PUF60	Square face	HP:0000321
22827	PUF60	Branchial cyst	HP:0009796
22827	PUF60	Hemifacial hypoplasia	HP:0011332
22827	PUF60	Upslanted palpebral fissure	HP:0000582
22827	PUF60	Vesicoureteral reflux	HP:0000076
22827	PUF60	Coloboma	HP:0000589
22827	PUF60	Narrow forehead	HP:0000341
22827	PUF60	Long philtrum	HP:0000343
22827	PUF60	Renal hypoplasia	HP:0000089
22827	PUF60	Scoliosis	HP:0002650
22827	PUF60	Talipes	HP:0001883
22827	PUF60	Ventricular septal defect	HP:0001629
22827	PUF60	Congenital hip dislocation	HP:0001374
22827	PUF60	Optic nerve hypoplasia	HP:0000609
22827	PUF60	Posteriorly rotated ears	HP:0000358
22827	PUF60	Renal agenesis	HP:0000104
22827	PUF60	Hip dysplasia	HP:0001385
22827	PUF60	Patent ductus arteriosus	HP:0001643
22827	PUF60	Renal cyst	HP:0000107
22827	PUF60	Postnatal microcephaly	HP:0005484
22827	PUF60	Joint laxity	HP:0001388
22827	PUF60	Skin tags	HP:0010609
22827	PUF60	Clinodactyly of the 5th finger	HP:0004209
22827	PUF60	Hemivertebrae	HP:0002937
22827	PUF60	Unilateral renal agenesis	HP:0000122
22827	PUF60	Cervical ribs	HP:0000891
22827	PUF60	Short middle phalanx of the 5th finger	HP:0004220
22827	PUF60	Truncus arteriosus	HP:0001660
22827	PUF60	Short nose	HP:0003196
22827	PUF60	Short hallux	HP:0010109
22827	PUF60	Pelvic kidney	HP:0000125
22827	PUF60	Thoracic scoliosis	HP:0002943
22827	PUF60	Clinodactyly	HP:0030084
22827	PUF60	Vertebral fusion	HP:0002948
22827	PUF60	Abnormal cardiac septum morphology	HP:0001671
22827	PUF60	Complete atrioventricular canal defect	HP:0001674
22827	PUF60	Infancy onset short-trunk short stature	HP:0011406
22827	PUF60	Coarctation of aorta	HP:0001680
22827	PUF60	Pes valgus	HP:0008081
22827	PUF60	Cleft maxillary alveolus	HP:0410003
22827	PUF60	Micromelia	HP:0002983
22827	PUF60	Expressive language delay	HP:0002474
22827	PUF60	Wide nasal bridge	HP:0000431
22827	PUF60	Single transverse palmar crease	HP:0000954
22827	PUF60	Capillary hemangioma	HP:0005306
22827	PUF60	Gastrointestinal hemorrhage	HP:0002239
22827	PUF60	Tics	HP:0100033
22827	PUF60	Feeding difficulties	HP:0011968
22827	PUF60	Long fingers	HP:0100807
22827	PUF60	Broad nasal tip	HP:0000455
22827	PUF60	Exocrine pancreatic insufficiency	HP:0001738
22827	PUF60	Abnormal cricoid cartilage morphology	HP:3000038
22827	PUF60	Nasogastric tube feeding in infancy	HP:0011470
22827	PUF60	Bilateral microphthalmos	HP:0007633
22827	PUF60	Prominent forehead	HP:0011220
22827	PUF60	Short neck	HP:0000470
22827	PUF60	Thin upper lip vermilion	HP:0000219
22827	PUF60	Dysphagia	HP:0002015
22827	PUF60	Retinal coloboma	HP:0000480
22827	PUF60	Seizures	HP:0001250
22827	PUF60	Spina bifida occulta	HP:0003298
22827	PUF60	Asymmetry of the ears	HP:0010722
22827	PUF60	Short stature	HP:0004322
22827	PUF60	Pes planus	HP:0001763
22827	PUF60	Gastroesophageal reflux	HP:0002020
22827	PUF60	Intrauterine growth retardation	HP:0001511
22827	PUF60	Low frustration tolerance	HP:0000744
22827	PUF60	Deeply set eye	HP:0000490
22827	PUF60	Ectopic posterior pituitary	HP:0011755
22827	PUF60	Global brain atrophy	HP:0002283
22827	PUF60	Naevus flammeus of the eyelid	HP:0010733
22827	PUF60	Small for gestational age	HP:0001518
22827	PUF60	Global developmental delay	HP:0001263
22827	PUF60	Reduced visual acuity	HP:0007663
22827	PUF60	Hyperactivity	HP:0000752
22827	PUF60	Highly arched eyebrow	HP:0002553
22827	PUF60	Congenital onset	HP:0003577
22827	PUF60	Microcephaly	HP:0000252
22827	PUF60	Pectus excavatum	HP:0000767
6443	SGCB	Myoglobinuria	HP:0002913
6443	SGCB	Elevated serum creatine kinase	HP:0003236
6443	SGCB	Increased variability in muscle fiber diameter	HP:0003557
6443	SGCB	Pelvic girdle muscle weakness	HP:0003749
6443	SGCB	Juvenile onset	HP:0003621
6443	SGCB	Cardiomyopathy	HP:0001638
6443	SGCB	Autosomal recessive inheritance	HP:0000007
6443	SGCB	Muscular dystrophy	HP:0003560
6443	SGCB	Myopathic facies	HP:0002058
6443	SGCB	Scapular winging	HP:0003691
6443	SGCB	Shoulder girdle muscle atrophy	HP:0003724
6443	SGCB	Dilated cardiomyopathy	HP:0001644
6443	SGCB	Delayed speech and language development	HP:0000750
6443	SGCB	Difficulty walking	HP:0002355
6443	SGCB	Waddling gait	HP:0002515
6443	SGCB	Calf muscle hypertrophy	HP:0008981
6443	SGCB	Proximal amyotrophy	HP:0007126
6443	SGCB	Broad-based gait	HP:0002136
6443	SGCB	Calf muscle pseudohypertrophy	HP:0003707
6443	SGCB	Pelvic girdle muscle atrophy	HP:0008988
6443	SGCB	Limb-girdle muscle weakness	HP:0003325
6443	SGCB	Myopathy	HP:0003198
6443	SGCB	Gowers sign	HP:0003391
6444	SGCD	EMG abnormality	HP:0003457
6444	SGCD	Lipoatrophy	HP:0100578
6444	SGCD	Congestive heart failure	HP:0001635
6444	SGCD	Facial palsy	HP:0010628
6444	SGCD	Elevated serum creatine kinase	HP:0003236
6444	SGCD	Autosomal dominant inheritance	HP:0000006
6444	SGCD	Autosomal recessive inheritance	HP:0000007
6444	SGCD	Muscular dystrophy	HP:0003560
6444	SGCD	Scapular winging	HP:0003691
6444	SGCD	Dilated cardiomyopathy	HP:0001644
6444	SGCD	Reduced systolic function	HP:0006673
6444	SGCD	Abnormality of neutrophils	HP:0001874
6444	SGCD	Ventricular hypertrophy	HP:0001714
6444	SGCD	Difficulty walking	HP:0002355
6444	SGCD	Proximal upper limb amyotrophy	HP:0008948
6444	SGCD	Calf muscle hypertrophy	HP:0008981
6444	SGCD	Palmoplantar keratoderma	HP:0000982
6444	SGCD	Proximal amyotrophy	HP:0007126
6444	SGCD	Sensorineural hearing impairment	HP:0000407
6444	SGCD	Shuffling gait	HP:0002362
6444	SGCD	Proximal lower limb amyotrophy	HP:0008956
6444	SGCD	Myopathy	HP:0003198
6444	SGCD	Generalized limb muscle atrophy	HP:0009055
6444	SGCD	Gowers sign	HP:0003391
80173	IFT74	Intellectual disability	HP:0001249
80173	IFT74	Hypogonadism	HP:0000135
80173	IFT74	Autosomal recessive inheritance	HP:0000007
80173	IFT74	Obesity	HP:0001513
80173	IFT74	Polydactyly	HP:0010442
80173	IFT74	Microcephaly	HP:0000252
80173	IFT74	Rod-cone dystrophy	HP:0000510
6445	SGCG	Muscle fiber necrosis	HP:0003713
6445	SGCG	EMG: myopathic abnormalities	HP:0003458
6445	SGCG	Skeletal muscle atrophy	HP:0003202
6445	SGCG	Right ventricular hypertrophy	HP:0001667
6445	SGCG	Autosomal recessive inheritance	HP:0000007
6445	SGCG	Increased endomysial connective tissue	HP:0100297
6445	SGCG	Neck flexor weakness	HP:0003722
6445	SGCG	Right ventricular dilatation	HP:0005133
6445	SGCG	Left ventricular systolic dysfunction	HP:0025169
6445	SGCG	EMG: myotonic runs	HP:0003730
6445	SGCG	Waddling gait	HP:0002515
6445	SGCG	Long face	HP:0000276
6445	SGCG	Calf muscle hypertrophy	HP:0008981
6445	SGCG	Difficulty running	HP:0009046
6445	SGCG	Abnormal macrophage morphology	HP:0004311
6445	SGCG	Broad-based gait	HP:0002136
6445	SGCG	Scoliosis	HP:0002650
6445	SGCG	Flexion contracture	HP:0001371
6445	SGCG	Upper limb muscle weakness	HP:0003484
6445	SGCG	Macroglossia	HP:0000158
6445	SGCG	Rapidly progressive	HP:0003678
6445	SGCG	Difficulty climbing stairs	HP:0003551
6445	SGCG	Tip-toe gait	HP:0030051
6445	SGCG	Elevated serum creatine kinase	HP:0003236
6445	SGCG	Increased variability in muscle fiber diameter	HP:0003557
6445	SGCG	Muscular dystrophy	HP:0003560
6445	SGCG	Pneumonia	HP:0002090
6445	SGCG	Scapular winging	HP:0003691
6445	SGCG	Achilles tendon contracture	HP:0001771
6445	SGCG	Hyperlordosis	HP:0003307
6445	SGCG	Restrictive ventilatory defect	HP:0002091
6445	SGCG	EMG: positive sharp waves	HP:0030007
6445	SGCG	Frequent falls	HP:0002359
6445	SGCG	Lumbar hyperlordosis	HP:0002938
6445	SGCG	Calf muscle pseudohypertrophy	HP:0003707
6445	SGCG	EMG: myotonic discharges	HP:0100284
6445	SGCG	Gowers sign	HP:0003391
55599	RNPC3	Frontal bossing	HP:0002007
55599	RNPC3	Growth hormone deficiency	HP:0000824
6448	SGSH	Coarse hair	HP:0002208
6448	SGSH	Hepatomegaly	HP:0002240
6448	SGSH	Intellectual disability	HP:0001249
6448	SGSH	Seizures	HP:0001250
6448	SGSH	Growth abnormality	HP:0001507
6448	SGSH	Recurrent upper respiratory tract infections	HP:0002788
6448	SGSH	Thickened ribs	HP:0000900
6448	SGSH	Asymmetric septal hypertrophy	HP:0001670
6448	SGSH	Autosomal recessive inheritance	HP:0000007
6448	SGSH	Joint stiffness	HP:0001387
6448	SGSH	Ovoid thoracolumbar vertebrae	HP:0003309
6448	SGSH	Hearing impairment	HP:0000365
6448	SGSH	Heparan sulfate excretion in urine	HP:0002159
6448	SGSH	Hirsutism	HP:0001007
6448	SGSH	Dysostosis multiplex	HP:0000943
6448	SGSH	Splenomegaly	HP:0001744
6448	SGSH	Hyperactivity	HP:0000752
6448	SGSH	Synophrys	HP:0000664
6448	SGSH	Coarse facial features	HP:0000280
6448	SGSH	Sleep disturbance	HP:0002360
6448	SGSH	Dense calvaria	HP:0000250
6448	SGSH	Diarrhea	HP:0002014
55603	TENT5A	Generalized osteoporosis	HP:0040160
55603	TENT5A	Thin bony cortex	HP:0002753
55603	TENT5A	Umbilical hernia	HP:0001537
55603	TENT5A	Femoral bowing	HP:0002980
55603	TENT5A	Recurrent fractures	HP:0002757
55603	TENT5A	Joint hypermobility	HP:0001382
55603	TENT5A	Autosomal recessive inheritance	HP:0000007
55603	TENT5A	Vertebral compression fractures	HP:0002953
55603	TENT5A	Biconcave vertebral bodies	HP:0004586
55603	TENT5A	Joint laxity	HP:0001388
55603	TENT5A	Delayed speech and language development	HP:0000750
55603	TENT5A	Long eyelashes	HP:0000527
55603	TENT5A	Blue sclerae	HP:0000592
55603	TENT5A	Broad forehead	HP:0000337
55603	TENT5A	Thin ribs	HP:0000883
55603	TENT5A	Wormian bones	HP:0002645
55603	TENT5A	Motor delay	HP:0001270
55603	TENT5A	Micrognathia	HP:0000347
6452	SH3BP2	Broad jaw	HP:0012802
6452	SH3BP2	Oligodontia	HP:0000677
6452	SH3BP2	Full cheeks	HP:0000293
6452	SH3BP2	Autosomal dominant inheritance	HP:0000006
6452	SH3BP2	Childhood onset	HP:0011463
6452	SH3BP2	Proptosis	HP:0000520
6452	SH3BP2	Feeding difficulties in infancy	HP:0008872
6452	SH3BP2	Optic atrophy	HP:0000648
6452	SH3BP2	Abnormality of the voice	HP:0001608
6452	SH3BP2	Striae distensae	HP:0001065
6452	SH3BP2	Constriction of peripheral visual field	HP:0001133
6452	SH3BP2	Reduced visual acuity	HP:0007663
6452	SH3BP2	Progressive visual loss	HP:0000529
6452	SH3BP2	Lower eyelid retraction	HP:0030802
6452	SH3BP2	Optic neuropathy	HP:0001138
6452	SH3BP2	Abnormality of dental morphology	HP:0006482
6452	SH3BP2	Obstructive sleep apnea	HP:0002870
6452	SH3BP2	Round face	HP:0000311
6452	SH3BP2	Marcus Gunn pupil	HP:0200057
6452	SH3BP2	Macular scar	HP:0200056
6452	SH3BP2	Upper airway obstruction	HP:0002781
6452	SH3BP2	Bone cyst	HP:0012062
55605	KIF21A	Bilateral ptosis	HP:0001488
55605	KIF21A	Restrictive external ophthalmoplegia	HP:0007936
55605	KIF21A	Exotropia	HP:0000577
55605	KIF21A	Levator palpebrae superioris atrophy	HP:0012241
55605	KIF21A	Superior rectus atrophy	HP:0012242
55605	KIF21A	Congenital fibrosis of extraocular muscles	HP:0001491
55605	KIF21A	Esotropia	HP:0000565
55605	KIF21A	Compensatory chin elevation	HP:0001477
55605	KIF21A	Autosomal dominant inheritance	HP:0000006
55605	KIF21A	Sensory exotropia	HP:0031721
55605	KIF21A	Secondary esotropia	HP:0031723
6455	SH3GL1	Somatic mutation	HP:0001428
6455	SH3GL1	Autosomal dominant inheritance	HP:0000006
6455	SH3GL1	Acute myeloid leukemia	HP:0004808
80185	TTI2	Prominent nose	HP:0000448
80185	TTI2	Intellectual disability	HP:0001249
80185	TTI2	Short stature	HP:0004322
80185	TTI2	Strabismus	HP:0000486
80185	TTI2	Autosomal recessive inheritance	HP:0000007
80185	TTI2	Infantile onset	HP:0003593
80185	TTI2	Deeply set eye	HP:0000490
80185	TTI2	Aggressive behavior	HP:0000718
80185	TTI2	Delayed speech and language development	HP:0000750
80185	TTI2	Global developmental delay	HP:0001263
80185	TTI2	Hyperactivity	HP:0000752
80185	TTI2	Macrotia	HP:0000400
80185	TTI2	Anteverted ears	HP:0040080
80185	TTI2	Sloping forehead	HP:0000340
80185	TTI2	Synophrys	HP:0000664
80185	TTI2	Microcephaly	HP:0000252
80185	TTI2	Stereotypy	HP:0000733
80185	TTI2	Kyphoscoliosis	HP:0002751
80184	CEP290	Abnormal electroretinogram	HP:0000512
80184	CEP290	Multicystic kidney dysplasia	HP:0000003
80184	CEP290	Cataract	HP:0000518
80184	CEP290	Autosomal recessive inheritance	HP:0000007
80184	CEP290	Generalized hypotonia	HP:0001290
80184	CEP290	Anophthalmia	HP:0000528
80184	CEP290	Premature ovarian insufficiency	HP:0008209
80184	CEP290	Progressive visual loss	HP:0000529
80184	CEP290	Anencephaly	HP:0002323
80184	CEP290	Abnormal chorioretinal morphology	HP:0000532
80184	CEP290	Long face	HP:0000276
80184	CEP290	Hypoplasia of the ovary	HP:0008724
80184	CEP290	Hemiplegia/hemiparesis	HP:0004374
80184	CEP290	Abnormality of retinal pigmentation	HP:0007703
80184	CEP290	Dandy-Walker malformation	HP:0001305
80184	CEP290	Oligohydramnios	HP:0001562
80184	CEP290	Cryptorchidism	HP:0000028
80184	CEP290	Agenesis of cerebellar vermis	HP:0002335
80184	CEP290	Hypoplasia of the corpus callosum	HP:0002079
80184	CEP290	Hypoplasia of penis	HP:0008736
80184	CEP290	Renal cortical cysts	HP:0000803
80184	CEP290	Encephalocele	HP:0002084
80184	CEP290	Male pseudohermaphroditism	HP:0000037
80184	CEP290	Full cheeks	HP:0000293
80184	CEP290	Foot polydactyly	HP:0001829
80184	CEP290	Postaxial foot polydactyly	HP:0001830
80184	CEP290	Cerebellar vermis hypoplasia	HP:0001320
80184	CEP290	Retinal dystrophy	HP:0000556
80184	CEP290	Cystic liver disease	HP:0006706
80184	CEP290	Keratoconus	HP:0000563
80184	CEP290	Congenital hepatic fibrosis	HP:0002612
80184	CEP290	Hypertension	HP:0000822
80184	CEP290	Aplasia/Hypoplasia of the tongue	HP:0010295
80184	CEP290	Chorioretinal coloboma	HP:0000567
80184	CEP290	Central apnea	HP:0002871
80184	CEP290	Microphthalmia	HP:0000568
80184	CEP290	Apnea	HP:0002104
80184	CEP290	Hyposmia	HP:0004409
80184	CEP290	Hypertelorism	HP:0000316
80184	CEP290	Episodic tachypnea	HP:0002876
80184	CEP290	Urethral atresia	HP:0000068
80184	CEP290	Pigmentary retinopathy	HP:0000580
80184	CEP290	Biparietal narrowing	HP:0004422
80184	CEP290	Ureteral duplication	HP:0000073
80184	CEP290	Cone-shaped epiphysis	HP:0010579
80184	CEP290	Renal insufficiency	HP:0000083
80184	CEP290	Sloping forehead	HP:0000340
80184	CEP290	Bowing of the long bones	HP:0006487
80184	CEP290	Nephronophthisis	HP:0000090
80184	CEP290	Scoliosis	HP:0002650
80184	CEP290	Micrognathia	HP:0000347
80184	CEP290	Talipes	HP:0001883
80184	CEP290	Ventricular septal defect	HP:0001629
80184	CEP290	Atrial septal defect	HP:0001631
80184	CEP290	Abnormality of the hypothalamus-pituitary axis	HP:0000864
80184	CEP290	Iris coloboma	HP:0000612
80184	CEP290	Thickened superior cerebellar peduncle	HP:0002404
80184	CEP290	Nephrotic syndrome	HP:0000100
80184	CEP290	Blindness	HP:0000618
80184	CEP290	Renal cyst	HP:0000107
80184	CEP290	Hearing impairment	HP:0000365
80184	CEP290	Low-set, posteriorly rotated ears	HP:0000368
80184	CEP290	Nephropathy	HP:0000112
80184	CEP290	Molar tooth sign on MRI	HP:0002419
80184	CEP290	Hepatic fibrosis	HP:0001395
80184	CEP290	Aplasia/Hypoplasia of the iris	HP:0008053
80184	CEP290	Severely reduced visual acuity	HP:0001141
80184	CEP290	Impaired renal concentrating ability	HP:0004727
80184	CEP290	Neurological speech impairment	HP:0002167
80184	CEP290	Pancreatic fibrosis	HP:0100732
80184	CEP290	Nystagmus	HP:0000639
80184	CEP290	Bile duct proliferation	HP:0001408
80184	CEP290	Skeletal muscle atrophy	HP:0003202
80184	CEP290	Meningocele	HP:0002435
80184	CEP290	Sclerocornea	HP:0000647
80184	CEP290	Hypogonadism	HP:0000135
80184	CEP290	Optic atrophy	HP:0000648
80184	CEP290	Hand polydactyly	HP:0001161
80184	CEP290	Postaxial hand polydactyly	HP:0001162
80184	CEP290	Oculomotor apraxia	HP:0000657
80184	CEP290	Preaxial hand polydactyly	HP:0001177
80184	CEP290	Situs inversus totalis	HP:0001696
80184	CEP290	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
80184	CEP290	Prominent nasal bridge	HP:0000426
80184	CEP290	Cleft palate	HP:0000175
80184	CEP290	Generalized hirsutism	HP:0002230
80184	CEP290	Stage 5 chronic kidney disease	HP:0003774
80184	CEP290	Congenital blindness	HP:0007875
80184	CEP290	Abnormality of the nervous system	HP:0000707
80184	CEP290	Pancreatic cysts	HP:0001737
80184	CEP290	Depressed nasal ridge	HP:0000457
80184	CEP290	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
80184	CEP290	Aganglionic megacolon	HP:0002251
80184	CEP290	Anteverted nares	HP:0000463
80184	CEP290	Asplenia	HP:0001746
80184	CEP290	Accessory spleen	HP:0001747
80184	CEP290	Finger syndactyly	HP:0006101
80184	CEP290	Lobar holoprosencephaly	HP:0006870
80184	CEP290	Short neck	HP:0000470
80184	CEP290	Abnormality of cardiovascular system morphology	HP:0030680
80184	CEP290	Autistic behavior	HP:0000729
80184	CEP290	True hermaphroditism	HP:0010459
80184	CEP290	Furrowed tongue	HP:0000221
80184	CEP290	Abnormality of neuronal migration	HP:0002269
80184	CEP290	Retinal coloboma	HP:0000480
80184	CEP290	Intellectual disability	HP:0001249
80184	CEP290	Microcornea	HP:0000482
80184	CEP290	Seizures	HP:0001250
80184	CEP290	Short stature	HP:0004322
80184	CEP290	Ataxia	HP:0001251
80184	CEP290	Muscular hypotonia	HP:0001252
80184	CEP290	Tachypnea	HP:0002789
80184	CEP290	Strabismus	HP:0000486
80184	CEP290	Neonatal breathing dysregulation	HP:0002790
80184	CEP290	Intrauterine growth retardation	HP:0001511
80184	CEP290	Obesity	HP:0001513
80184	CEP290	Hydrocephalus	HP:0000238
80184	CEP290	Downslanted palpebral fissures	HP:0000494
80184	CEP290	Global developmental delay	HP:0001263
80184	CEP290	Reduced visual acuity	HP:0007663
80184	CEP290	Visual impairment	HP:0000505
80184	CEP290	Highly arched eyebrow	HP:0002553
80184	CEP290	Abnormality of the optic disc	HP:0012795
80184	CEP290	Medial flaring of the eyebrow	HP:0010747
80184	CEP290	Microcephaly	HP:0000252
80184	CEP290	Abnormality of bone mineral density	HP:0004348
80184	CEP290	Ptosis	HP:0000508
80184	CEP290	Rod-cone dystrophy	HP:0000510
170302	ARX	Hyperconvex nail	HP:0001795
170302	ARX	Wide anterior fontanel	HP:0000260
170302	ARX	Generalized hypotonia	HP:0001290
170302	ARX	Lower limb spasticity	HP:0002061
170302	ARX	Rigidity	HP:0002063
170302	ARX	Focal dystonia	HP:0004373
170302	ARX	Pachygyria	HP:0001302
170302	ARX	Inguinal hernia	HP:0000023
170302	ARX	Coarse facial features	HP:0000280
170302	ARX	Cryptorchidism	HP:0000028
170302	ARX	Decreased testicular size	HP:0008734
170302	ARX	Hypoplasia of penis	HP:0008736
170302	ARX	Low anterior hairline	HP:0000294
170302	ARX	Neonatal hypotonia	HP:0001319
170302	ARX	Dyspnea	HP:0002094
170302	ARX	Hypospadias	HP:0000047
170302	ARX	Specific learning disability	HP:0001328
170302	ARX	EEG abnormality	HP:0002353
170302	ARX	Limb joint contracture	HP:0003121
170302	ARX	Dystonia	HP:0001332
170302	ARX	Dyskinesia	HP:0100660
170302	ARX	Overlapping toe	HP:0001845
170302	ARX	Micropenis	HP:0000054
170302	ARX	Myoclonus	HP:0001336
170302	ARX	Ambiguous genitalia	HP:0000062
170302	ARX	Abnormally large globe	HP:0001090
170302	ARX	Hyperreflexia	HP:0001347
170302	ARX	Triangular face	HP:0000325
170302	ARX	Ventriculomegaly	HP:0002119
170302	ARX	Developmental regression	HP:0002376
170302	ARX	Cerebral cortical atrophy	HP:0002120
170302	ARX	Generalized myoclonic seizures	HP:0002123
170302	ARX	Long upper lip	HP:0011341
170302	ARX	Severe global developmental delay	HP:0011344
170302	ARX	Prominent supraorbital ridges	HP:0000336
170302	ARX	Status epilepticus	HP:0002133
170302	ARX	Long philtrum	HP:0000343
170302	ARX	Scoliosis	HP:0002650
170302	ARX	Flexion contracture	HP:0001371
170302	ARX	Micrognathia	HP:0000347
170302	ARX	High forehead	HP:0000348
170302	ARX	Ventricular septal defect	HP:0001629
170302	ARX	Patent ductus arteriosus	HP:0001643
170302	ARX	Renal dysplasia	HP:0000110
170302	ARX	Intellectual disability, severe	HP:0010864
170302	ARX	Abnormality of skin morphology	HP:0011121
170302	ARX	Low-set ears	HP:0000369
170302	ARX	Periorbital fullness	HP:0000629
170302	ARX	Gliosis	HP:0002171
170302	ARX	Long palpebral fissure	HP:0000637
170302	ARX	Nystagmus	HP:0000639
170302	ARX	Optic atrophy	HP:0000648
170302	ARX	X-linked inheritance	HP:0001417
170302	ARX	X-linked recessive inheritance	HP:0001419
170302	ARX	Tetraplegia	HP:0002445
170302	ARX	Limb dystonia	HP:0002451
170302	ARX	Synophrys	HP:0000664
170302	ARX	Protruding ear	HP:0000411
170302	ARX	Tapered finger	HP:0001182
170302	ARX	Feeding difficulties in infancy	HP:0008872
170302	ARX	Prominent nasal bridge	HP:0000426
170302	ARX	Wide nasal bridge	HP:0000431
170302	ARX	Infantile spasms	HP:0012469
170302	ARX	Generalized hirsutism	HP:0002230
170302	ARX	Broad alveolar ridges	HP:0000187
170302	ARX	Profound global developmental delay	HP:0012736
170302	ARX	Duane anomaly	HP:0009921
170302	ARX	Epileptic encephalopathy	HP:0200134
170302	ARX	Hypohidrosis	HP:0000966
170302	ARX	Abnormality of the hip bone	HP:0003272
170302	ARX	Exocrine pancreatic insufficiency	HP:0001738
170302	ARX	Aganglionic megacolon	HP:0002251
170302	ARX	Spastic tetraplegia	HP:0002510
170302	ARX	Prominent forehead	HP:0011220
170302	ARX	Hypsarrhythmia	HP:0002521
170302	ARX	High palate	HP:0000218
170302	ARX	Thin upper lip vermilion	HP:0000219
170302	ARX	Diarrhea	HP:0002014
170302	ARX	Dysphagia	HP:0002015
170302	ARX	Muscle stiffness	HP:0003552
170302	ARX	Abnormal hair pattern	HP:0010720
170302	ARX	Intellectual disability	HP:0001249
170302	ARX	Seizures	HP:0001250
170302	ARX	Short stature	HP:0004322
170302	ARX	Muscular hypotonia	HP:0001252
170302	ARX	Strabismus	HP:0000486
170302	ARX	Renal hypoplasia/aplasia	HP:0008678
170302	ARX	Intellectual disability, progressive	HP:0006887
170302	ARX	Muscular hypotonia of the trunk	HP:0008936
170302	ARX	Malabsorption	HP:0002024
170302	ARX	Spasticity	HP:0001257
170302	ARX	Dysarthria	HP:0001260
170302	ARX	Delayed speech and language development	HP:0000750
170302	ARX	Global developmental delay	HP:0001263
170302	ARX	Hirsutism	HP:0001007
170302	ARX	Choreoathetosis	HP:0001266
170302	ARX	Death in infancy	HP:0001522
170302	ARX	Visual impairment	HP:0000505
170302	ARX	Agenesis of corpus callosum	HP:0001274
170302	ARX	Hypertonia	HP:0001276
170302	ARX	Microcephaly	HP:0000252
170302	ARX	Hemiplegia	HP:0002301
55612	FERMT1	Aplasia/Hypoplasia of the skin	HP:0008065
55612	FERMT1	Abnormal blistering of the skin	HP:0008066
55612	FERMT1	Abnormality of the ribs	HP:0000772
55612	FERMT1	Poikiloderma	HP:0001029
55612	FERMT1	Fragile skin	HP:0001030
55612	FERMT1	Turricephaly	HP:0000262
55612	FERMT1	Autosomal recessive inheritance	HP:0000007
55612	FERMT1	Telangiectases in sun-exposed and nonexposed skin	HP:0007561
55612	FERMT1	Camptodactyly of finger	HP:0100490
55612	FERMT1	Ridged nail	HP:0001807
55612	FERMT1	Ectropion	HP:0000656
55612	FERMT1	Corneal opacity	HP:0007957
55612	FERMT1	Colitis	HP:0002583
55612	FERMT1	Esophagitis	HP:0100633
55612	FERMT1	Abnormality of the anus	HP:0004378
55612	FERMT1	Carious teeth	HP:0000670
55612	FERMT1	Erythema	HP:0010783
55612	FERMT1	Milia	HP:0001056
55612	FERMT1	Neoplasm of the urethra	HP:0100517
55612	FERMT1	Abnormality of dental enamel	HP:0000682
55612	FERMT1	Squamous cell carcinoma	HP:0002860
55612	FERMT1	Recurrent skin infections	HP:0001581
55612	FERMT1	Amniotic constriction ring	HP:0009775
55612	FERMT1	Symblepharon	HP:0430007
55612	FERMT1	Premature loss of primary teeth	HP:0006323
55612	FERMT1	Short 4th metacarpal	HP:0010044
55612	FERMT1	Short 5th metacarpal	HP:0010047
55612	FERMT1	Periodontitis	HP:0000704
55612	FERMT1	Diffuse skin atrophy	HP:0007488
55612	FERMT1	Laryngeal stenosis	HP:0001602
55612	FERMT1	Urethral stricture	HP:0012227
55612	FERMT1	Abnormal toenail morphology	HP:0008388
55612	FERMT1	Acral blistering	HP:0031045
55612	FERMT1	Palmoplantar hyperkeratosis	HP:0000972
55612	FERMT1	Phimosis	HP:0001741
55612	FERMT1	Spotty hyperpigmentation	HP:0005585
55612	FERMT1	Finger syndactyly	HP:0006101
55612	FERMT1	Spotty hypopigmentation	HP:0005590
55612	FERMT1	Palmoplantar keratoderma	HP:0000982
55612	FERMT1	Corneal erosion	HP:0200020
55612	FERMT1	Cheilitis	HP:0100825
55612	FERMT1	Atypical scarring of skin	HP:0000987
55612	FERMT1	Dysphagia	HP:0002015
55612	FERMT1	Cutaneous photosensitivity	HP:0000992
55612	FERMT1	Gingivitis	HP:0000230
55612	FERMT1	Abnormality of skin pigmentation	HP:0001000
55612	FERMT1	Dermal atrophy	HP:0004334
55612	FERMT1	Anemia	HP:0001903
55612	FERMT1	Esophageal stricture	HP:0002043
55612	FERMT1	Conjunctivitis	HP:0000509
22845	DOLK	Ichthyosis	HP:0008064
22845	DOLK	Hepatomegaly	HP:0002240
22845	DOLK	EMG abnormality	HP:0003457
22845	DOLK	Hypoketotic hypoglycemia	HP:0001985
22845	DOLK	Autosomal recessive inheritance	HP:0000007
22845	DOLK	Cerebral cortical atrophy	HP:0002120
22845	DOLK	Abnormality of coagulation	HP:0001928
22845	DOLK	Sparse eyelashes	HP:0000653
22845	DOLK	Splenomegaly	HP:0001744
22845	DOLK	Abnormality of neutrophils	HP:0001874
22845	DOLK	Palmoplantar keratoderma	HP:0000982
22845	DOLK	Sensorineural hearing impairment	HP:0000407
22845	DOLK	Sparse and thin eyebrow	HP:0000535
22845	DOLK	Abnormal isoelectric focusing of serum transferrin	HP:0003160
22845	DOLK	Hypsarrhythmia	HP:0002521
22845	DOLK	Elevated hepatic transaminase	HP:0002910
22845	DOLK	Seizures	HP:0001250
22845	DOLK	Lipoatrophy	HP:0100578
22845	DOLK	Elevated serum creatine kinase	HP:0003236
22845	DOLK	Muscular hypotonia	HP:0001252
22845	DOLK	Failure to thrive	HP:0001508
22845	DOLK	Dilated cardiomyopathy	HP:0001644
22845	DOLK	Postnatal microcephaly	HP:0005484
22845	DOLK	Adactyly	HP:0009776
22845	DOLK	Death in infancy	HP:0001522
22845	DOLK	Congenital hepatic fibrosis	HP:0002612
22845	DOLK	Aplasia/Hypoplasia of the nipples	HP:0006709
22845	DOLK	Myopathy	HP:0003198
22845	DOLK	Myalgia	HP:0003326
22845	DOLK	Dry skin	HP:0000958
22845	DOLK	Cognitive impairment	HP:0100543
203068	TUBB	Umbilical hernia	HP:0001537
203068	TUBB	Autosomal dominant inheritance	HP:0000006
203068	TUBB	Generalized hypotonia	HP:0001290
203068	TUBB	Inguinal hernia	HP:0000023
203068	TUBB	Dandy-Walker malformation	HP:0001305
203068	TUBB	Cryptorchidism	HP:0000028
203068	TUBB	Epicanthus	HP:0000286
203068	TUBB	Hypoplasia of the corpus callosum	HP:0002079
203068	TUBB	Narrow mouth	HP:0000160
203068	TUBB	Retinal dysplasia	HP:0007973
203068	TUBB	Cerebellar hypoplasia	HP:0001321
203068	TUBB	Scrotal hypoplasia	HP:0000046
203068	TUBB	Cleft palate	HP:0000175
203068	TUBB	Hypospadias	HP:0000047
203068	TUBB	Thickened skin	HP:0001072
203068	TUBB	Generalized hirsutism	HP:0002230
203068	TUBB	Abnormality of the skin	HP:0000951
203068	TUBB	Microphthalmia	HP:0000568
203068	TUBB	Hypertelorism	HP:0000316
203068	TUBB	Hypoplasia of the brainstem	HP:0002365
203068	TUBB	Abnormality of the musculature	HP:0003011
203068	TUBB	Blepharophimosis	HP:0000581
203068	TUBB	Upslanted palpebral fissure	HP:0000582
203068	TUBB	Long fingers	HP:0100807
203068	TUBB	Cerebellar vermis atrophy	HP:0006855
203068	TUBB	Short palpebral fissure	HP:0012745
203068	TUBB	Edema	HP:0000969
203068	TUBB	Lower limb asymmetry	HP:0100559
203068	TUBB	Polymicrogyria	HP:0002126
203068	TUBB	Flat face	HP:0012368
203068	TUBB	Upper limb asymmetry	HP:0100560
203068	TUBB	Wide intermamillary distance	HP:0006610
203068	TUBB	Short neck	HP:0000470
203068	TUBB	Long philtrum	HP:0000343
203068	TUBB	Abnormality of cardiovascular system morphology	HP:0030680
203068	TUBB	High palate	HP:0000218
203068	TUBB	Micrognathia	HP:0000347
203068	TUBB	Intellectual disability	HP:0001249
203068	TUBB	Microcornea	HP:0000482
203068	TUBB	Increased number of skin folds	HP:0007522
203068	TUBB	Short stature	HP:0004322
203068	TUBB	Congestive heart failure	HP:0001635
203068	TUBB	Ataxia	HP:0001251
203068	TUBB	Posteriorly rotated ears	HP:0000358
203068	TUBB	Retinopathy	HP:0000488
203068	TUBB	Irregular hyperpigmentation	HP:0007400
203068	TUBB	Cortical dysplasia	HP:0002539
203068	TUBB	Delayed speech and language development	HP:0000750
203068	TUBB	Global developmental delay	HP:0001263
203068	TUBB	Localized neuroblastoma	HP:0006768
203068	TUBB	Low-set, posteriorly rotated ears	HP:0000368
203068	TUBB	Low-set ears	HP:0000369
203068	TUBB	Periorbital fullness	HP:0000629
203068	TUBB	Motor delay	HP:0001270
203068	TUBB	Brachycephaly	HP:0000248
203068	TUBB	Congenital onset	HP:0003577
203068	TUBB	Microcephaly	HP:0000252
203068	TUBB	External ear malformation	HP:0008572
203068	TUBB	Hypoplastic nipples	HP:0002557
203068	TUBB	Pectus excavatum	HP:0000767
22852	ANKRD26	Thrombocytopenia	HP:0001873
22852	ANKRD26	Bruising susceptibility	HP:0000978
22852	ANKRD26	Autosomal dominant inheritance	HP:0000006
6469	SHH	Aplasia/Hypoplasia of the thumb	HP:0009601
6469	SHH	EMG: myopathic abnormalities	HP:0003458
6469	SHH	Hemangioma	HP:0001028
6469	SHH	Autosomal dominant inheritance	HP:0000006
6469	SHH	Proboscis	HP:0012806
6469	SHH	Fibular duplication	HP:0010503
6469	SHH	Hand polydactyly	HP:0001161
6469	SHH	Postaxial hand polydactyly	HP:0001162
6469	SHH	Camptodactyly of finger	HP:0100490
6469	SHH	Schizencephaly	HP:0010636
6469	SHH	Malar flattening	HP:0000272
6469	SHH	Anophthalmia	HP:0000528
6469	SHH	Midnasal stenosis	HP:0010644
6469	SHH	Prominent median palatal raphe	HP:0002708
6469	SHH	Midface retrusion	HP:0011800
6469	SHH	Preaxial hand polydactyly	HP:0001177
6469	SHH	Hypoplasia of penis	HP:0008736
6469	SHH	Foot polydactyly	HP:0001829
6469	SHH	Single median maxillary incisor	HP:0006315
6469	SHH	Triphalangeal thumb	HP:0001199
6469	SHH	Cleft palate	HP:0000175
6469	SHH	Specific learning disability	HP:0001328
6469	SHH	Asthma	HP:0002099
6469	SHH	Pyriform aperture stenosis	HP:0025011
6469	SHH	Tented upper lip vermilion	HP:0010804
6469	SHH	Torus palatinus	HP:0100789
6469	SHH	Depressed nasal tip	HP:0000437
6469	SHH	Hypothyroidism	HP:0000821
6469	SHH	Chorioretinal coloboma	HP:0000567
6469	SHH	Microphthalmia	HP:0000568
6469	SHH	Growth hormone deficiency	HP:0000824
6469	SHH	Cyclopia	HP:0009914
6469	SHH	Narrow nasal bridge	HP:0000446
6469	SHH	Ambiguous genitalia	HP:0000062
6469	SHH	Short philtrum	HP:0000322
6469	SHH	Choanal atresia	HP:0000453
6469	SHH	Duodenal atresia	HP:0002247
6469	SHH	Maternal diabetes	HP:0009800
6469	SHH	Cerebral cortical atrophy	HP:0002120
6469	SHH	Oral cleft	HP:0000202
6469	SHH	Anosmia	HP:0000458
6469	SHH	Increased fibular diameter	HP:0012107
6469	SHH	Abnormality of the nasopharynx	HP:0001739
6469	SHH	Cleft upper lip	HP:0000204
6469	SHH	Coloboma	HP:0000589
6469	SHH	Anteverted nares	HP:0000463
6469	SHH	Holoprosencephaly	HP:0001360
6469	SHH	Bilateral microphthalmos	HP:0007633
6469	SHH	1-5 finger syndactyly	HP:0010708
6469	SHH	Finger syndactyly	HP:0006101
6469	SHH	Premature birth	HP:0001622
6469	SHH	Bowing of the long bones	HP:0006487
6469	SHH	Hypotelorism	HP:0000601
6469	SHH	Scoliosis	HP:0002650
6469	SHH	6 metacarpals	HP:0001501
6469	SHH	Limitation of joint mobility	HP:0001376
6469	SHH	Intellectual disability	HP:0001249
6469	SHH	Short stature	HP:0004322
6469	SHH	Seizures	HP:0001250
6469	SHH	Iris coloboma	HP:0000612
6469	SHH	Tetralogy of Fallot	HP:0001636
6469	SHH	Abnormality of chromosome segregation	HP:0002916
6469	SHH	Strabismus	HP:0000486
6469	SHH	Panhypopituitarism	HP:0000871
6469	SHH	Intrauterine growth retardation	HP:0001511
6469	SHH	Short tibia	HP:0005736
6469	SHH	Renal agenesis	HP:0000104
6469	SHH	Intellectual disability, mild	HP:0001256
6469	SHH	Toe syndactyly	HP:0001770
6469	SHH	Abnormality of the nose	HP:0000366
6469	SHH	Clinodactyly of the 5th finger	HP:0004209
6469	SHH	Variable expressivity	HP:0003828
6469	SHH	Incomplete penetrance	HP:0003829
6469	SHH	Abnormality of vision	HP:0000504
6469	SHH	Agenesis of corpus callosum	HP:0001274
6469	SHH	Short nose	HP:0003196
6469	SHH	Microcephaly	HP:0000252
6469	SHH	Hydronephrosis	HP:0000126
55621	TRMT1	Delayed ability to walk	HP:0031936
55621	TRMT1	Narrow palpebral fissure	HP:0045025
55621	TRMT1	Seizures	HP:0001250
55621	TRMT1	Cerebellar atrophy	HP:0001272
55621	TRMT1	Synophrys	HP:0000664
55621	TRMT1	Infantile onset	HP:0003593
55621	TRMT1	Periventricular leukomalacia	HP:0006970
55621	TRMT1	Generalized hypotonia	HP:0001290
55621	TRMT1	Broad eyebrow	HP:0011229
55621	TRMT1	Delayed speech and language development	HP:0000750
55621	TRMT1	Abnormal facial shape	HP:0001999
55621	TRMT1	Global developmental delay	HP:0001263
22854	NTNG1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
22854	NTNG1	Intellectual disability	HP:0001249
22854	NTNG1	Seizures	HP:0001250
22854	NTNG1	Gastroesophageal reflux	HP:0002020
22854	NTNG1	Fine hair	HP:0002213
22854	NTNG1	Ventriculomegaly	HP:0002119
22854	NTNG1	Cerebral cortical atrophy	HP:0002120
22854	NTNG1	Developmental regression	HP:0002376
22854	NTNG1	Abnormality of the antitragus	HP:0009896
22854	NTNG1	Spasticity	HP:0001257
22854	NTNG1	Camptodactyly of finger	HP:0100490
22854	NTNG1	Abnormality of the metacarpal bones	HP:0001163
22854	NTNG1	Hearing impairment	HP:0000365
22854	NTNG1	Underdeveloped nasal alae	HP:0000430
22854	NTNG1	Abnormal fingernail morphology	HP:0001231
22854	NTNG1	Clinodactyly of the 5th finger	HP:0004209
22854	NTNG1	EEG abnormality	HP:0002353
22854	NTNG1	Nephrolithiasis	HP:0000787
22854	NTNG1	Long philtrum	HP:0000343
22854	NTNG1	Thick vermilion border	HP:0012471
22854	NTNG1	Abnormality of movement	HP:0100022
22854	NTNG1	Wide mouth	HP:0000154
22854	NTNG1	Microcephaly	HP:0000252
22854	NTNG1	Wide nose	HP:0000445
80199	FUZ	Arnold-Chiari malformation	HP:0002308
80199	FUZ	Aplasia/Hypoplasia of the sacrum	HP:0008517
80199	FUZ	Maternal diabetes	HP:0009800
80199	FUZ	Abnormal vertebral segmentation and fusion	HP:0005640
80199	FUZ	Ureteral duplication	HP:0000073
80199	FUZ	Oral cleft	HP:0000202
80199	FUZ	Vesicoureteral reflux	HP:0000076
80199	FUZ	Renal insufficiency	HP:0000083
80199	FUZ	Ectopic kidney	HP:0000086
80199	FUZ	Abnormality of cardiovascular system morphology	HP:0030680
80199	FUZ	Missing ribs	HP:0000921
80199	FUZ	Scoliosis	HP:0002650
80199	FUZ	Abnormality of the wing of the ilium	HP:0011867
80199	FUZ	Arrhinencephaly	HP:0002139
80199	FUZ	Cryptorchidism	HP:0000028
80199	FUZ	Hypoplastic vertebral bodies	HP:0008479
80199	FUZ	Talipes equinovarus	HP:0001762
80199	FUZ	Reduced tendon reflexes	HP:0001315
80199	FUZ	Impulsivity	HP:0100710
80199	FUZ	Anal atresia	HP:0002023
80199	FUZ	Renal agenesis	HP:0000104
80199	FUZ	Pulmonary hypoplasia	HP:0002089
80199	FUZ	Joint stiffness	HP:0001387
80199	FUZ	Bowel incontinence	HP:0002607
80199	FUZ	Hypertension	HP:0000822
80199	FUZ	Ambiguous genitalia	HP:0000062
80199	FUZ	Decreased muscle mass	HP:0003199
55624	POMGNT1	Abnormal electroretinogram	HP:0000512
55624	POMGNT1	Macrocephaly	HP:0000256
55624	POMGNT1	Areflexia	HP:0001284
55624	POMGNT1	Cataract	HP:0000518
55624	POMGNT1	Autosomal recessive inheritance	HP:0000007
55624	POMGNT1	Gait disturbance	HP:0001288
55624	POMGNT1	Generalized hypotonia	HP:0001290
55624	POMGNT1	Metatarsus valgus	HP:0010508
55624	POMGNT1	Malar flattening	HP:0000272
55624	POMGNT1	Anophthalmia	HP:0000528
55624	POMGNT1	Corneal opacity	HP:0007957
55624	POMGNT1	Pachygyria	HP:0001302
55624	POMGNT1	Hemiplegia/hemiparesis	HP:0004374
55624	POMGNT1	Abnormality of retinal pigmentation	HP:0007703
55624	POMGNT1	Midface retrusion	HP:0011800
55624	POMGNT1	Dandy-Walker malformation	HP:0001305
55624	POMGNT1	Cryptorchidism	HP:0000028
55624	POMGNT1	Retinal detachment	HP:0000541
55624	POMGNT1	Hypoplasia of penis	HP:0008736
55624	POMGNT1	Myopia	HP:0000545
55624	POMGNT1	Retinal degeneration	HP:0000546
55624	POMGNT1	Abnormal testis morphology	HP:0000035
55624	POMGNT1	Retinal dysplasia	HP:0007973
55624	POMGNT1	Undetectable electroretinogram	HP:0000550
55624	POMGNT1	Cerebellar hypoplasia	HP:0001321
55624	POMGNT1	Muscle weakness	HP:0001324
55624	POMGNT1	Retinal dystrophy	HP:0000556
55624	POMGNT1	Buphthalmos	HP:0000557
55624	POMGNT1	Cerebellar cyst	HP:0002350
55624	POMGNT1	Specific learning disability	HP:0001328
55624	POMGNT1	EEG abnormality	HP:0002353
55624	POMGNT1	Keratoconus	HP:0000563
55624	POMGNT1	Absent septum pellucidum	HP:0001331
55624	POMGNT1	Chorioretinal dysplasia	HP:0007731
55624	POMGNT1	Myoclonus	HP:0001336
55624	POMGNT1	Microphthalmia	HP:0000568
55624	POMGNT1	Uncontrolled eye movements	HP:0007738
55624	POMGNT1	Macrogyria	HP:0007227
55624	POMGNT1	Hypoplasia of the brainstem	HP:0002365
55624	POMGNT1	Gowers sign	HP:0003391
55624	POMGNT1	Hyperreflexia	HP:0001347
55624	POMGNT1	Ventriculomegaly	HP:0002119
55624	POMGNT1	Abnormality of the voice	HP:0001608
55624	POMGNT1	Hyperinsulinemia	HP:0000842
55624	POMGNT1	Coloboma	HP:0000589
55624	POMGNT1	Polymicrogyria	HP:0002126
55624	POMGNT1	Hypoplasia of the pons	HP:0012110
55624	POMGNT1	Opacification of the corneal stroma	HP:0007759
55624	POMGNT1	Severe global developmental delay	HP:0011344
55624	POMGNT1	Holoprosencephaly	HP:0001360
55624	POMGNT1	Retinal atrophy	HP:0001105
55624	POMGNT1	Hypoplasia of the retina	HP:0007770
55624	POMGNT1	Ophthalmoplegia	HP:0000602
55624	POMGNT1	Type II diabetes mellitus	HP:0005978
55624	POMGNT1	Fatigue	HP:0012378
55624	POMGNT1	Micrognathia	HP:0000347
55624	POMGNT1	Type II lissencephaly	HP:0007260
55624	POMGNT1	Progressive	HP:0003676
55624	POMGNT1	Iris coloboma	HP:0000612
55624	POMGNT1	Photophobia	HP:0000613
55624	POMGNT1	Posteriorly rotated ears	HP:0000358
55624	POMGNT1	Blindness	HP:0000618
55624	POMGNT1	Enlarged flash visual evoked potentials	HP:0008045
55624	POMGNT1	Abnormal retinal vascular morphology	HP:0008046
55624	POMGNT1	Peripapillary atrophy	HP:0500087
55624	POMGNT1	Intellectual disability, severe	HP:0010864
55624	POMGNT1	Abnormal aldolase level	HP:0012400
55624	POMGNT1	Low-set ears	HP:0000369
55624	POMGNT1	Neurological speech impairment	HP:0002167
55624	POMGNT1	Retinal thinning	HP:0030329
55624	POMGNT1	Cerebellar dysplasia	HP:0007033
55624	POMGNT1	Short nasal bridge	HP:0003194
55624	POMGNT1	Myopathy	HP:0003198
55624	POMGNT1	Nystagmus	HP:0000639
55624	POMGNT1	Skeletal muscle hypertrophy	HP:0003712
55624	POMGNT1	EMG abnormality	HP:0003457
55624	POMGNT1	Skeletal muscle atrophy	HP:0003202
55624	POMGNT1	Meningocele	HP:0002435
55624	POMGNT1	Hypogonadism	HP:0000135
55624	POMGNT1	Optic atrophy	HP:0000648
55624	POMGNT1	Intellectual disability, profound	HP:0002187
55624	POMGNT1	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
55624	POMGNT1	Heterogeneous	HP:0001425
55624	POMGNT1	Abnormal circulating creatine kinase concentration	HP:0040081
55624	POMGNT1	Conductive hearing impairment	HP:0000405
55624	POMGNT1	Nyctalopia	HP:0000662
55624	POMGNT1	Sensorineural hearing impairment	HP:0000407
55624	POMGNT1	Protruding ear	HP:0000411
55624	POMGNT1	Congenital muscular dystrophy	HP:0003741
55624	POMGNT1	Elevated serum creatine kinase	HP:0003236
55624	POMGNT1	Severe muscular hypotonia	HP:0006829
55624	POMGNT1	Wide nasal bridge	HP:0000431
55624	POMGNT1	Submucous cleft hard palate	HP:0000176
55624	POMGNT1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
55624	POMGNT1	Cognitive impairment	HP:0100543
55624	POMGNT1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
55624	POMGNT1	Bifid uvula	HP:0000193
55624	POMGNT1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
55624	POMGNT1	Anteverted nares	HP:0000463
55624	POMGNT1	Pallor	HP:0000980
55624	POMGNT1	Atypical scarring of skin	HP:0000987
55624	POMGNT1	Difficulty climbing stairs	HP:0003551
55624	POMGNT1	Intellectual disability	HP:0001249
55624	POMGNT1	Seizures	HP:0001250
55624	POMGNT1	Microcornea	HP:0000482
55624	POMGNT1	Muscular hypotonia	HP:0001252
55624	POMGNT1	Megalocornea	HP:0000485
55624	POMGNT1	Strabismus	HP:0000486
55624	POMGNT1	Muscular dystrophy	HP:0003560
55624	POMGNT1	Everted lower lip vermilion	HP:0000232
55624	POMGNT1	Spasticity	HP:0001257
55624	POMGNT1	Obesity	HP:0001513
55624	POMGNT1	Hyperlordosis	HP:0003307
55624	POMGNT1	Hydrocephalus	HP:0000238
55624	POMGNT1	Reduced visual acuity	HP:0007663
55624	POMGNT1	Global developmental delay	HP:0001263
55624	POMGNT1	Abnormal lactate dehydrogenase activity	HP:0045040
55624	POMGNT1	Cystoid macular edema	HP:0011505
55624	POMGNT1	Hyporeflexia	HP:0001265
55624	POMGNT1	Glaucoma	HP:0000501
55624	POMGNT1	Motor delay	HP:0001270
55624	POMGNT1	Congenital onset	HP:0003577
55624	POMGNT1	Visual impairment	HP:0000505
55624	POMGNT1	Agenesis of corpus callosum	HP:0001274
55624	POMGNT1	Progressive night blindness	HP:0007675
55624	POMGNT1	Microcephaly	HP:0000252
55624	POMGNT1	Generalized muscle weakness	HP:0003324
55624	POMGNT1	Hypertonia	HP:0001276
22856	CHSY1	Short metacarpal	HP:0010049
22856	CHSY1	Brachydactyly	HP:0001156
22856	CHSY1	Clinodactyly	HP:0030084
22856	CHSY1	Carpal synostosis	HP:0009702
22856	CHSY1	Syndactyly	HP:0001159
22856	CHSY1	Autosomal recessive inheritance	HP:0000007
22856	CHSY1	Optic atrophy	HP:0000648
22856	CHSY1	Bilateral sensorineural hearing impairment	HP:0008619
22856	CHSY1	Cleft palate	HP:0000175
22856	CHSY1	Talon cusp	HP:0011087
22856	CHSY1	Blue sclerae	HP:0000592
22856	CHSY1	Tarsal synostosis	HP:0008368
22856	CHSY1	Hitchhiker thumb	HP:0001234
22856	CHSY1	Deep philtrum	HP:0002002
22856	CHSY1	Microdontia	HP:0000691
22856	CHSY1	Short metatarsal	HP:0010743
22856	CHSY1	Synophrys	HP:0000664
22856	CHSY1	Highly arched eyebrow	HP:0002553
22856	CHSY1	Diastema	HP:0000699
22856	CHSY1	Radioulnar synostosis	HP:0002974
6473	SHOX	Skeletal muscle hypertrophy	HP:0003712
6473	SHOX	Aplastic/hypoplastic toenail	HP:0010624
6473	SHOX	Short femoral neck	HP:0100864
6473	SHOX	Brachydactyly	HP:0001156
6473	SHOX	Autosomal dominant inheritance	HP:0000006
6473	SHOX	Abnormality of femur morphology	HP:0002823
6473	SHOX	Autosomal recessive inheritance	HP:0000007
6473	SHOX	X-linked inheritance	HP:0001417
6473	SHOX	Hypoplastic fingernail	HP:0001804
6473	SHOX	Mesomelic short stature	HP:0008845
6473	SHOX	Cubitus valgus	HP:0002967
6473	SHOX	Broad ulna	HP:0003993
6473	SHOX	Genu varum	HP:0002970
6473	SHOX	Diaphyseal thickening	HP:0005019
6473	SHOX	Increased carrying angle	HP:0003102
6473	SHOX	Depressed nasal bridge	HP:0005280
6473	SHOX	Mesomelic/rhizomelic limb shortening	HP:0005026
6473	SHOX	Shortening of the tibia	HP:0006436
6473	SHOX	Tibial bowing	HP:0002982
6473	SHOX	Micromelia	HP:0002983
6473	SHOX	Abnormality of the carpal bones	HP:0001191
6473	SHOX	Short toe	HP:0001831
6473	SHOX	Hypoplasia of the radius	HP:0002984
6473	SHOX	Exostoses	HP:0100777
6473	SHOX	Abnormal metatarsal morphology	HP:0001832
6473	SHOX	Genu valgum	HP:0002857
6473	SHOX	Disproportionate short-limb short stature	HP:0008873
6473	SHOX	Radial bowing	HP:0002986
6473	SHOX	Abnormality of epiphysis morphology	HP:0005930
6473	SHOX	Patellar aplasia	HP:0006443
6473	SHOX	Wide nasal bridge	HP:0000431
6473	SHOX	Abnormality of the metaphysis	HP:0000944
6473	SHOX	Limited elbow movement	HP:0002996
6473	SHOX	Abnormality of the ulna	HP:0002997
6473	SHOX	Severe short stature	HP:0003510
6473	SHOX	Dorsal subluxation of ulna	HP:0006459
6473	SHOX	Short 4th metacarpal	HP:0010044
6473	SHOX	Abnormality of the hip bone	HP:0003272
6473	SHOX	Multiple exostoses	HP:0002762
6473	SHOX	Hypoplasia of the ulna	HP:0003022
6473	SHOX	Cone-shaped epiphysis	HP:0010579
6473	SHOX	Mesomelia	HP:0003027
6473	SHOX	Short neck	HP:0000470
6473	SHOX	Episodic ketoacidosis	HP:0005974
6473	SHOX	Ulnar bowing	HP:0003031
6473	SHOX	Bowing of the long bones	HP:0006487
6473	SHOX	Lower limb undergrowth	HP:0009816
6473	SHOX	Abnormality of calvarial morphology	HP:0002648
6473	SHOX	Scoliosis	HP:0002650
6473	SHOX	High palate	HP:0000218
6473	SHOX	Micrognathia	HP:0000347
6473	SHOX	Aplasia/Hypoplasia of the fibula	HP:0006492
6473	SHOX	Forearm undergrowth	HP:0009821
6473	SHOX	Fibular hypoplasia	HP:0003038
6473	SHOX	Ulnar radial head dislocation	HP:0005856
6473	SHOX	Short stature	HP:0004322
6473	SHOX	Elbow dislocation	HP:0003042
6473	SHOX	Limited wrist movement	HP:0006248
6473	SHOX	Short tibia	HP:0005736
6473	SHOX	Obesity	HP:0001513
6473	SHOX	Joint stiffness	HP:0001387
6473	SHOX	Short foot	HP:0001773
6473	SHOX	Rudimentary fibula	HP:0006381
6473	SHOX	Clinodactyly of the 5th finger	HP:0004209
6473	SHOX	Coxa valga	HP:0002673
6473	SHOX	Abnormality of the humerus	HP:0003063
6473	SHOX	Ulnar deviation of finger	HP:0009465
6473	SHOX	Lumbar hyperlordosis	HP:0002938
6473	SHOX	Madelung deformity	HP:0003067
22858	ICK	Adrenal hypoplasia	HP:0000835
22858	ICK	Brachydactyly	HP:0001156
22858	ICK	Febrile seizures	HP:0002373
22858	ICK	Syndactyly	HP:0001159
22858	ICK	Ventriculomegaly	HP:0002119
22858	ICK	Autosomal recessive inheritance	HP:0000007
22858	ICK	Absence seizure	HP:0002121
22858	ICK	Polydactyly	HP:0010442
22858	ICK	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
22858	ICK	Cleft upper lip	HP:0000204
22858	ICK	Aggressive behavior	HP:0000718
22858	ICK	Ulnar deviation of the hand	HP:0009487
22858	ICK	Barrel-shaped chest	HP:0001552
22858	ICK	Holoprosencephaly	HP:0001360
22858	ICK	Malar flattening	HP:0000272
22858	ICK	Shield chest	HP:0000914
22858	ICK	Wide intermamillary distance	HP:0006610
22858	ICK	Status epilepticus	HP:0002133
22858	ICK	Morning myoclonic jerks	HP:0007000
22858	ICK	EEG with polyspike wave complexes	HP:0002392
22858	ICK	Midface retrusion	HP:0011800
22858	ICK	Abnormality of the mouth	HP:0000153
22858	ICK	Micrognathia	HP:0000347
22858	ICK	Cryptorchidism	HP:0000028
22858	ICK	Postaxial polydactyly	HP:0100259
22858	ICK	Photosensitive tonic-clonic seizures	HP:0007207
22858	ICK	Micromelia	HP:0002983
22858	ICK	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
22858	ICK	Hydrocephalus	HP:0000238
22858	ICK	Scrotal hypoplasia	HP:0000046
22858	ICK	Hypospadias	HP:0000047
22858	ICK	Cleft palate	HP:0000175
22858	ICK	Wide nasal bridge	HP:0000431
22858	ICK	Abnormality of eye movement	HP:0000496
22858	ICK	Low-set ears	HP:0000369
22858	ICK	Microphallus	HP:0030260
22858	ICK	Depressed nasal tip	HP:0000437
22858	ICK	Micropenis	HP:0000054
22858	ICK	Abnormality of the pinna	HP:0000377
22858	ICK	Sandal gap	HP:0001852
22858	ICK	Ambiguous genitalia	HP:0000062
6476	SI	Nephrolithiasis	HP:0000787
6476	SI	Abnormality of metabolism/homeostasis	HP:0001939
6476	SI	Autosomal recessive inheritance	HP:0000007
6476	SI	Malabsorption	HP:0002024
6476	SI	Diarrhea	HP:0002014
22861	NLRP1	Hyperkeratosis	HP:0000962
22861	NLRP1	Polyarticular arthritis	HP:0005764
22861	NLRP1	Epidermal acanthosis	HP:0025092
22861	NLRP1	Autosomal dominant inheritance	HP:0000006
22861	NLRP1	Autosomal recessive inheritance	HP:0000007
22861	NLRP1	Ectodermal dysplasia	HP:0000968
22861	NLRP1	Keratoconjunctivitis sicca	HP:0001097
22861	NLRP1	Carcinoma	HP:0030731
22861	NLRP1	Parakeratosis	HP:0001036
22861	NLRP1	Follicular hyperkeratosis	HP:0007502
22861	NLRP1	Finger joint hypermobility	HP:0006094
22861	NLRP1	Splenomegaly	HP:0001744
22861	NLRP1	Punctate keratitis	HP:0011859
22861	NLRP1	Nail dystrophy	HP:0008404
22861	NLRP1	Short neck	HP:0000470
22861	NLRP1	Palmoplantar keratoderma	HP:0000982
22861	NLRP1	Long philtrum	HP:0000343
22861	NLRP1	Amyloidosis	HP:0011034
22861	NLRP1	Autoimmune hemolytic anemia	HP:0001890
22861	NLRP1	Failure to thrive	HP:0001508
22861	NLRP1	Antinuclear antibody positivity	HP:0003493
22861	NLRP1	Photophobia	HP:0000613
22861	NLRP1	Growth delay	HP:0001510
22861	NLRP1	Thyroiditis	HP:0100646
22861	NLRP1	Corneal neovascularization	HP:0011496
22861	NLRP1	Uveitis	HP:0000554
22861	NLRP1	Squamous cell carcinoma	HP:0002860
22861	NLRP1	Hyperkeratosis pilaris	HP:0040180
22861	NLRP1	Hypereosinophilia	HP:0032061
22861	NLRP1	Increased circulating IgA level	HP:0003261
22861	NLRP1	Dry skin	HP:0000958
80204	FBXO11	Delayed ability to walk	HP:0031936
80204	FBXO11	Clinodactyly	HP:0030084
80204	FBXO11	Plagiocephaly	HP:0001357
80204	FBXO11	Long eyelashes	HP:0000527
80204	FBXO11	Long face	HP:0000276
80204	FBXO11	Long philtrum	HP:0000343
80204	FBXO11	Downturned corners of mouth	HP:0002714
80204	FBXO11	High forehead	HP:0000348
80204	FBXO11	Hypermetropia	HP:0000540
80204	FBXO11	Tapered finger	HP:0001182
80204	FBXO11	Narrow mouth	HP:0000160
80204	FBXO11	Short attention span	HP:0000736
80204	FBXO11	Intellectual disability	HP:0001249
80204	FBXO11	Seizures	HP:0001250
80204	FBXO11	Pes planus	HP:0001763
80204	FBXO11	Strabismus	HP:0000486
80204	FBXO11	Posteriorly rotated ears	HP:0000358
80204	FBXO11	Microtia	HP:0008551
80204	FBXO11	Everted lower lip vermilion	HP:0000232
80204	FBXO11	Deeply set eye	HP:0000490
80204	FBXO11	Short foot	HP:0001773
80204	FBXO11	Downslanted palpebral fissures	HP:0000494
80204	FBXO11	Delayed speech and language development	HP:0000750
80204	FBXO11	Global developmental delay	HP:0001263
80204	FBXO11	Hyperactivity	HP:0000752
80204	FBXO11	Low-set ears	HP:0000369
80204	FBXO11	Variable expressivity	HP:0003828
80204	FBXO11	Small hand	HP:0200055
80204	FBXO11	Microcephaly	HP:0000252
80204	FBXO11	Hypertelorism	HP:0000316
80204	FBXO11	Sandal gap	HP:0001852
55630	SLC39A4	Hepatomegaly	HP:0002240
55630	SLC39A4	Abnormal blistering of the skin	HP:0008066
55630	SLC39A4	Hypogonadism	HP:0000135
55630	SLC39A4	Autosomal recessive inheritance	HP:0000007
55630	SLC39A4	Emotional lability	HP:0000712
55630	SLC39A4	Cerebral cortical atrophy	HP:0002120
55630	SLC39A4	Infantile onset	HP:0003593
55630	SLC39A4	Glossitis	HP:0000206
55630	SLC39A4	Ridged nail	HP:0001807
55630	SLC39A4	Splenomegaly	HP:0001744
55630	SLC39A4	Low alkaline phosphatase	HP:0003282
55630	SLC39A4	Ridged fingernail	HP:0008402
55630	SLC39A4	Abnormal eyebrow morphology	HP:0000534
55630	SLC39A4	Corneal erosion	HP:0200020
55630	SLC39A4	Cheilitis	HP:0100825
55630	SLC39A4	Recurrent candida infections	HP:0005401
55630	SLC39A4	Paronychia	HP:0001818
55630	SLC39A4	Furrowed tongue	HP:0000221
55630	SLC39A4	Diarrhea	HP:0002014
55630	SLC39A4	Decreased testicular size	HP:0008734
55630	SLC39A4	Erythema	HP:0010783
55630	SLC39A4	Decreased taste sensation	HP:0000224
55630	SLC39A4	Weight loss	HP:0001824
55630	SLC39A4	Irritability	HP:0000737
55630	SLC39A4	Short stature	HP:0004322
55630	SLC39A4	Ataxia	HP:0001251
55630	SLC39A4	Failure to thrive	HP:0001508
55630	SLC39A4	Pustule	HP:0200039
55630	SLC39A4	Photophobia	HP:0000613
55630	SLC39A4	Lethargy	HP:0001254
55630	SLC39A4	Malabsorption	HP:0002024
55630	SLC39A4	Skin ulcer	HP:0200042
55630	SLC39A4	Decreased serum testosterone level	HP:0040171
55630	SLC39A4	Poor appetite	HP:0004396
55630	SLC39A4	Chronic diarrhea	HP:0002028
55630	SLC39A4	Blepharitis	HP:0000498
55630	SLC39A4	Alopecia of scalp	HP:0002293
55630	SLC39A4	Anorexia	HP:0002039
55630	SLC39A4	Tremor	HP:0001337
55630	SLC39A4	Visual impairment	HP:0000505
55630	SLC39A4	Impaired T cell function	HP:0005435
55630	SLC39A4	Alopecia	HP:0001596
55630	SLC39A4	Conjunctivitis	HP:0000509
55630	SLC39A4	Dry skin	HP:0000958
80207	OPA3	Red-green dyschromatopsia	HP:0000642
80207	OPA3	Autosomal dominant inheritance	HP:0000006
80207	OPA3	Cataract	HP:0000518
80207	OPA3	Autosomal recessive inheritance	HP:0000007
80207	OPA3	Gait disturbance	HP:0001288
80207	OPA3	Optic atrophy	HP:0000648
80207	OPA3	Spastic paraparesis	HP:0002313
80207	OPA3	Unsteady gait	HP:0002317
80207	OPA3	Resting tremor	HP:0002322
80207	OPA3	Abnormal thumb morphology	HP:0001172
80207	OPA3	Abnormality of extrapyramidal motor function	HP:0002071
80207	OPA3	Chorea	HP:0002072
80207	OPA3	Dyslexia	HP:0010522
80207	OPA3	Babinski sign	HP:0003487
80207	OPA3	Optic disc pallor	HP:0000543
80207	OPA3	Extrapyramidal muscular rigidity	HP:0007076
80207	OPA3	Tritanomaly	HP:0000552
80207	OPA3	Cerulean cataract	HP:0007976
80207	OPA3	Anterior subcapsular cataract	HP:0010923
80207	OPA3	Posterior cortical cataract	HP:0010924
80207	OPA3	Tremor	HP:0001337
80207	OPA3	Cognitive impairment	HP:0100543
80207	OPA3	Scotoma	HP:0000575
80207	OPA3	Muscle spasm	HP:0003394
80207	OPA3	Hyperreflexia	HP:0001347
80207	OPA3	Paresthesia	HP:0003401
80207	OPA3	3-Methylglutaconic aciduria	HP:0003535
80207	OPA3	Central scotoma	HP:0000603
80207	OPA3	Intellectual disability	HP:0001249
80207	OPA3	Pes cavus	HP:0001761
80207	OPA3	Limited elbow extension	HP:0001377
80207	OPA3	Ataxia	HP:0001251
80207	OPA3	Positive Romberg sign	HP:0002403
80207	OPA3	Limited wrist movement	HP:0006248
80207	OPA3	Spasticity	HP:0001257
80207	OPA3	Blindness	HP:0000618
80207	OPA3	Posterior subcapsular cataract	HP:0007787
80207	OPA3	Dysarthria	HP:0001260
80207	OPA3	Hearing impairment	HP:0000365
80207	OPA3	Absent Achilles reflex	HP:0003438
80207	OPA3	Reduced visual acuity	HP:0007663
80207	OPA3	Choreoathetosis	HP:0001266
80207	OPA3	Pain	HP:0012531
80207	OPA3	Anterior cortical cataract	HP:0007795
80207	OPA3	Cerebellar atrophy	HP:0001272
80207	OPA3	Visual impairment	HP:0000505
80207	OPA3	Deviation of the 2nd finger	HP:0009468
80207	OPA3	Postural tremor	HP:0002174
80207	OPA3	Nystagmus	HP:0000639
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	Areflexia	HP:0001284
80208	SPG11	Autosomal recessive inheritance	HP:0000007
80208	SPG11	Gait disturbance	HP:0001288
80208	SPG11	Motor polyneuropathy	HP:0007178
80208	SPG11	Degeneration of the lateral corticospinal tracts	HP:0002314
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	Babinski sign	HP:0003487
80208	SPG11	Hypoplasia of the corpus callosum	HP:0002079
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	Knee clonus	HP:0011449
80208	SPG11	Tremor	HP:0001337
80208	SPG11	Amyotrophic lateral sclerosis	HP:0007354
80208	SPG11	Respiratory insufficiency due to muscle weakness	HP:0002747
80208	SPG11	Abnormal lower motor neuron morphology	HP:0002366
80208	SPG11	Cognitive impairment	HP:0100543
80208	SPG11	Kyphoscoliosis	HP:0002751
80208	SPG11	Thenar muscle atrophy	HP:0003393
80208	SPG11	Ankle contracture	HP:0006466
80208	SPG11	Hyperreflexia	HP:0001347
80208	SPG11	Foot dorsiflexor weakness	HP:0009027
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 sign	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	Peripheral neuropathy	HP:0009830
80208	SPG11	Obesity	HP:0001513
80208	SPG11	Spasticity	HP:0001257
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
22866	CNKSR2	Absent speech	HP:0001344
22866	CNKSR2	Feeding difficulties	HP:0011968
22866	CNKSR2	Optic atrophy	HP:0000648
22866	CNKSR2	Developmental regression	HP:0002376
22866	CNKSR2	Generalized hypotonia	HP:0001290
22866	CNKSR2	Cerebral atrophy	HP:0002059
22866	CNKSR2	Limb hypertonia	HP:0002509
22866	CNKSR2	Autism	HP:0000717
22866	CNKSR2	Unsteady gait	HP:0002317
22866	CNKSR2	Rigidity	HP:0002063
22866	CNKSR2	Encephalopathy	HP:0001298
22866	CNKSR2	Status epilepticus	HP:0002133
22866	CNKSR2	Decreased fetal movement	HP:0001558
22866	CNKSR2	Hypsarrhythmia	HP:0002521
22866	CNKSR2	High forehead	HP:0000348
22866	CNKSR2	EEG with multifocal slow activity	HP:0010844
22866	CNKSR2	Hypodontia	HP:0000668
22866	CNKSR2	Abnormal myelination	HP:0012447
22866	CNKSR2	Intellectual disability	HP:0001249
22866	CNKSR2	Seizures	HP:0001250
22866	CNKSR2	Short stature	HP:0004322
22866	CNKSR2	Retinal degeneration	HP:0000546
22866	CNKSR2	Ataxia	HP:0001251
22866	CNKSR2	Gastroesophageal reflux	HP:0002020
22866	CNKSR2	Failure to thrive	HP:0001508
22866	CNKSR2	Impulsivity	HP:0100710
22866	CNKSR2	Spasticity	HP:0001257
22866	CNKSR2	Attention deficit hyperactivity disorder	HP:0007018
22866	CNKSR2	Downslanted palpebral fissures	HP:0000494
22866	CNKSR2	Delayed speech and language development	HP:0000750
22866	CNKSR2	Global developmental delay	HP:0001263
22866	CNKSR2	Hyporeflexia	HP:0001265
22866	CNKSR2	Difficulty walking	HP:0002355
22866	CNKSR2	Variable expressivity	HP:0003828
22866	CNKSR2	Mental deterioration	HP:0001268
22866	CNKSR2	Poor head control	HP:0002421
22866	CNKSR2	Dyskinesia	HP:0100660
22866	CNKSR2	Myoclonus	HP:0001336
22866	CNKSR2	Abnormality of vision	HP:0000504
22866	CNKSR2	Tremor	HP:0001337
22866	CNKSR2	Abnormal corpus callosum morphology	HP:0001273
22866	CNKSR2	Microcephaly	HP:0000252
22866	CNKSR2	Ptosis	HP:0000508
22866	CNKSR2	Nystagmus	HP:0000639
80210	ARMC9	Biparietal narrowing	HP:0004422
80210	ARMC9	Gait disturbance	HP:0001288
80210	ARMC9	Hand polydactyly	HP:0001161
80210	ARMC9	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
80210	ARMC9	Oral cleft	HP:0000202
80210	ARMC9	Aganglionic megacolon	HP:0002251
80210	ARMC9	Polymicrogyria	HP:0002126
80210	ARMC9	Anteverted nares	HP:0000463
80210	ARMC9	Oculomotor apraxia	HP:0000657
80210	ARMC9	Long face	HP:0000276
80210	ARMC9	Scoliosis	HP:0002650
80210	ARMC9	Abnormality of the hypothalamus-pituitary axis	HP:0000864
80210	ARMC9	Situs inversus totalis	HP:0001696
80210	ARMC9	Intellectual disability	HP:0001249
80210	ARMC9	Seizures	HP:0001250
80210	ARMC9	Ataxia	HP:0001251
80210	ARMC9	Iris coloboma	HP:0000612
80210	ARMC9	Muscular hypotonia	HP:0001252
80210	ARMC9	Encephalocele	HP:0002084
80210	ARMC9	Tachypnea	HP:0002789
80210	ARMC9	Foot polydactyly	HP:0001829
80210	ARMC9	Strabismus	HP:0000486
80210	ARMC9	Cerebellar vermis hypoplasia	HP:0001320
80210	ARMC9	Feeding difficulties in infancy	HP:0008872
80210	ARMC9	Gray matter heterotopia	HP:0002282
80210	ARMC9	Prominent nasal bridge	HP:0000426
80210	ARMC9	Retinal dystrophy	HP:0000556
80210	ARMC9	Delayed speech and language development	HP:0000750
80210	ARMC9	Hydrocephalus	HP:0000238
80210	ARMC9	Global developmental delay	HP:0001263
80210	ARMC9	Abnormality of eye movement	HP:0000496
80210	ARMC9	Abnormal form of the vertebral bodies	HP:0003312
80210	ARMC9	Low-set ears	HP:0000369
80210	ARMC9	Apnea	HP:0002104
80210	ARMC9	Congenital onset	HP:0003577
80210	ARMC9	Highly arched eyebrow	HP:0002553
80210	ARMC9	Tremor	HP:0001337
80210	ARMC9	Ptosis	HP:0000508
80210	ARMC9	Episodic tachypnea	HP:0002876
80210	ARMC9	Nystagmus	HP:0000639
55636	CHD7	Umbilical hernia	HP:0001537
55636	CHD7	Abnormality of body height	HP:0000002
55636	CHD7	Omphalocele	HP:0001539
55636	CHD7	Absence of pubertal development	HP:0008197
55636	CHD7	Autosomal dominant inheritance	HP:0000006
55636	CHD7	Abnormality of female internal genitalia	HP:0000008
55636	CHD7	Hypoplasia of the uterus	HP:0000013
55636	CHD7	Tracheoesophageal fistula	HP:0002575
55636	CHD7	Anophthalmia	HP:0000528
55636	CHD7	Hypoplasia of the ovary	HP:0008724
55636	CHD7	Gonadotropin deficiency	HP:0008213
55636	CHD7	Polyhydramnios	HP:0001561
55636	CHD7	Male hypogonadism	HP:0000026
55636	CHD7	Cryptorchidism	HP:0000028
55636	CHD7	Decreased testicular size	HP:0008734
55636	CHD7	Color vision defect	HP:0000551
55636	CHD7	Pneumonia	HP:0002090
55636	CHD7	Hypogonadotrophic hypogonadism	HP:0000044
55636	CHD7	Respiratory insufficiency	HP:0002093
55636	CHD7	Thickened skin	HP:0001072
55636	CHD7	Bifid scrotum	HP:0000048
55636	CHD7	Short thumb	HP:0009778
55636	CHD7	Micropenis	HP:0000054
55636	CHD7	Chorioretinal coloboma	HP:0000567
55636	CHD7	Microphthalmia	HP:0000568
55636	CHD7	Alopecia	HP:0001596
55636	CHD7	Laryngomalacia	HP:0001601
55636	CHD7	Labial hypoplasia	HP:0000066
55636	CHD7	Abnormality of the voice	HP:0001608
55636	CHD7	Reduced number of teeth	HP:0009804
55636	CHD7	Vesicoureteral reflux	HP:0000076
55636	CHD7	Horseshoe kidney	HP:0000085
55636	CHD7	Renal hypoplasia	HP:0000089
55636	CHD7	Scoliosis	HP:0002650
55636	CHD7	Arrhinencephaly	HP:0002139
55636	CHD7	Skeletal dysplasia	HP:0002652
55636	CHD7	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
55636	CHD7	Ventricular septal defect	HP:0001629
55636	CHD7	Atrial septal defect	HP:0001631
55636	CHD7	Camptodactyly	HP:0012385
55636	CHD7	Nephrotic syndrome	HP:0000100
55636	CHD7	Tetralogy of Fallot	HP:0001636
55636	CHD7	Iris coloboma	HP:0000612
55636	CHD7	Renal agenesis	HP:0000104
55636	CHD7	Lymphoma	HP:0002665
55636	CHD7	Pulmonic stenosis	HP:0001642
55636	CHD7	Patent ductus arteriosus	HP:0001643
55636	CHD7	Abnormal aortic valve morphology	HP:0001646
55636	CHD7	Clinodactyly of the 5th finger	HP:0004209
55636	CHD7	Eyelid coloboma	HP:0000625
55636	CHD7	Breast hypoplasia	HP:0003187
55636	CHD7	Hypoplasia of the semicircular canal	HP:0011382
55636	CHD7	Lacrimation abnormality	HP:0000632
55636	CHD7	Hydronephrosis	HP:0000126
55636	CHD7	Nystagmus	HP:0000639
55636	CHD7	Brachydactyly	HP:0001156
55636	CHD7	Female hypogonadism	HP:0000134
55636	CHD7	Abnormal cardiac septum morphology	HP:0001671
55636	CHD7	Optic atrophy	HP:0000648
55636	CHD7	Hand polydactyly	HP:0001161
55636	CHD7	Decreased fertility	HP:0000144
55636	CHD7	Lymphadenopathy	HP:0002716
55636	CHD7	Depressed nasal bridge	HP:0005280
55636	CHD7	Narrow mouth	HP:0000160
55636	CHD7	Sporadic	HP:0003745
55636	CHD7	Abnormality of the dentition	HP:0000164
55636	CHD7	Feeding difficulties in infancy	HP:0008872
55636	CHD7	Delayed eruption of teeth	HP:0000684
55636	CHD7	Cleft palate	HP:0000175
55636	CHD7	Aplasia/Hypoplasia of the earlobes	HP:0009906
55636	CHD7	Sparse body hair	HP:0002231
55636	CHD7	Double outlet right ventricle	HP:0001719
55636	CHD7	Non-obstructive azoospermia	HP:0011961
55636	CHD7	Delayed skeletal maturation	HP:0002750
55636	CHD7	Hepatomegaly	HP:0002240
55636	CHD7	Aplasia/Hypoplasia of the cerebellum	HP:0007360
55636	CHD7	Feeding difficulties	HP:0011968
55636	CHD7	Postnatal growth retardation	HP:0008897
55636	CHD7	Recurrent fractures	HP:0002757
55636	CHD7	Eunuchoid habitus	HP:0003782
55636	CHD7	Duodenal atresia	HP:0002247
55636	CHD7	Generalized joint laxity	HP:0002761
55636	CHD7	Bifid femur	HP:0010443
55636	CHD7	Cleft upper lip	HP:0000204
55636	CHD7	Depressivity	HP:0000716
55636	CHD7	Autism	HP:0000717
55636	CHD7	Splenomegaly	HP:0001744
55636	CHD7	Obsessive-compulsive behavior	HP:0000722
55636	CHD7	Pes cavus	HP:0001761
55636	CHD7	Intellectual disability	HP:0001249
55636	CHD7	Seizures	HP:0001250
55636	CHD7	Abnormality of immune system physiology	HP:0010978
55636	CHD7	Short stature	HP:0004322
55636	CHD7	Ataxia	HP:0001251
55636	CHD7	Pes planus	HP:0001763
55636	CHD7	Anxiety	HP:0000739
55636	CHD7	Muscular hypotonia	HP:0001252
55636	CHD7	Decreased serum testosterone level	HP:0040171
55636	CHD7	Dysarthria	HP:0001260
55636	CHD7	Abnormal lymphocyte morphology	HP:0004332
55636	CHD7	Global developmental delay	HP:0001263
55636	CHD7	Microcephaly	HP:0000252
55636	CHD7	Abnormality of bone mineral density	HP:0004348
55636	CHD7	Reduced bone mineral density	HP:0004349
55636	CHD7	Gynecomastia	HP:0000771
55636	CHD7	Abnormality of the ribs	HP:0000772
55636	CHD7	Gait disturbance	HP:0001288
55636	CHD7	Malar flattening	HP:0000272
55636	CHD7	Primary amenorrhea	HP:0000786
55636	CHD7	Narrow face	HP:0000275
55636	CHD7	Aplasia/Hypoplasia of the thymus	HP:0010515
55636	CHD7	Dandy-Walker malformation	HP:0001305
55636	CHD7	Erectile abnormalities	HP:0100639
55636	CHD7	Epicanthus	HP:0000286
55636	CHD7	Impotence	HP:0000802
55636	CHD7	Thyroiditis	HP:0100646
55636	CHD7	Short toe	HP:0001831
55636	CHD7	Muscle weakness	HP:0001324
55636	CHD7	Hypothyroidism	HP:0000821
55636	CHD7	Paraplegia	HP:0010550
55636	CHD7	Delayed puberty	HP:0000823
55636	CHD7	Bimanual synkinesia	HP:0001335
55636	CHD7	Growth hormone deficiency	HP:0000824
55636	CHD7	Tremor	HP:0001337
55636	CHD7	Hyposmia	HP:0004409
55636	CHD7	Hypertelorism	HP:0000316
55636	CHD7	Anterior hypopituitarism	HP:0000830
55636	CHD7	Dyspareunia	HP:0030016
55636	CHD7	Square face	HP:0000321
55636	CHD7	Abnormality of the adrenal glands	HP:0000834
55636	CHD7	Increased female libido	HP:0030019
55636	CHD7	Facial asymmetry	HP:0000324
55636	CHD7	Severe combined immunodeficiency	HP:0004430
55636	CHD7	Congenital sensorineural hearing impairment	HP:0008527
55636	CHD7	Holoprosencephaly	HP:0001360
55636	CHD7	Hypocalcemia	HP:0002901
55636	CHD7	Down-sloping shoulders	HP:0200021
55636	CHD7	Eosinophilia	HP:0001880
55636	CHD7	Interrupted aortic arch	HP:0011611
55636	CHD7	Talipes	HP:0001883
55636	CHD7	Micrognathia	HP:0000347
55636	CHD7	Parathyroid hypoplasia	HP:0000860
55636	CHD7	Lymphopenia	HP:0001888
55636	CHD7	Secondary amenorrhea	HP:0000869
55636	CHD7	Microtia	HP:0008551
55636	CHD7	Attention deficit hyperactivity disorder	HP:0007018
55636	CHD7	Aqueductal stenosis	HP:0002410
55636	CHD7	Hearing impairment	HP:0000365
55636	CHD7	Anemia	HP:0001903
55636	CHD7	Low-set, posteriorly rotated ears	HP:0000368
55636	CHD7	Hemivertebrae	HP:0002937
55636	CHD7	Cupped ear	HP:0000378
55636	CHD7	External ear malformation	HP:0008572
55636	CHD7	Desquamation of skin soon after birth	HP:0007549
55636	CHD7	Ichthyosis	HP:0008064
55636	CHD7	Preauricular skin tag	HP:0000384
55636	CHD7	Abnormal soft palate morphology	HP:0100736
55636	CHD7	Facial palsy	HP:0010628
55636	CHD7	Absent radius	HP:0003974
55636	CHD7	Lop ear	HP:0000394
55636	CHD7	Overfolded helix	HP:0000396
55636	CHD7	Autoimmunity	HP:0002960
55636	CHD7	Posterior choanal atresia	HP:0004496
55636	CHD7	Sensorineural hearing impairment	HP:0000407
55636	CHD7	Fever	HP:0001945
55636	CHD7	Mixed hearing impairment	HP:0000410
55636	CHD7	Cleft lip	HP:0410030
55636	CHD7	Osteopenia	HP:0000938
55636	CHD7	Osteoporosis	HP:0000939
55636	CHD7	Hypoplasia of the zygomatic bone	HP:0010669
55636	CHD7	Abnormality of the metaphysis	HP:0000944
55636	CHD7	Abnormality of tibia morphology	HP:0002992
55636	CHD7	Dry skin	HP:0000958
55636	CHD7	Choanal atresia	HP:0000453
55636	CHD7	Sepsis	HP:0100806
55636	CHD7	Edema	HP:0000969
55636	CHD7	Anosmia	HP:0000458
55636	CHD7	Hypoplasia of the ulna	HP:0003022
55636	CHD7	Webbed neck	HP:0000465
55636	CHD7	Wide intermamillary distance	HP:0006610
55636	CHD7	Abnormality of cardiovascular system morphology	HP:0030680
55636	CHD7	Hand monodactyly	HP:0004058
55636	CHD7	Pruritus	HP:0000989
55636	CHD7	Dysphagia	HP:0002015
55636	CHD7	Retinal coloboma	HP:0000480
55636	CHD7	Failure to thrive	HP:0001508
55636	CHD7	Gastroesophageal reflux	HP:0002020
55636	CHD7	Strabismus	HP:0000486
55636	CHD7	Intrauterine growth retardation	HP:0001511
55636	CHD7	Anal atresia	HP:0002023
55636	CHD7	Obesity	HP:0001513
55636	CHD7	Aplasia/Hypoplasia of the eyebrow	HP:0100840
55636	CHD7	Anal stenosis	HP:0002025
55636	CHD7	Chronic diarrhea	HP:0002028
55636	CHD7	Downslanted palpebral fissures	HP:0000494
55636	CHD7	Esophageal atresia	HP:0002032
55636	CHD7	Abnormality of vision	HP:0000504
55636	CHD7	Visual impairment	HP:0000505
55636	CHD7	Aortic arch aneurysm	HP:0005113
55636	CHD7	Highly arched eyebrow	HP:0002553
55636	CHD7	Abnormal palmar dermatoglyphics	HP:0001018
55636	CHD7	Erythroderma	HP:0001019
55636	CHD7	Absence of secondary sex characteristics	HP:0008187
55636	CHD7	Ptosis	HP:0000508
55636	CHD7	Dimple chin	HP:0010751
22868	FASTKD2	Hepatomegaly	HP:0002240
22868	FASTKD2	Decreased liver function	HP:0001410
22868	FASTKD2	Pigmentary retinopathy	HP:0000580
22868	FASTKD2	Glycosuria	HP:0003076
22868	FASTKD2	Autosomal recessive inheritance	HP:0000007
22868	FASTKD2	Optic atrophy	HP:0000648
22868	FASTKD2	Generalized hypotonia	HP:0001290
22868	FASTKD2	Renal Fanconi syndrome	HP:0001994
22868	FASTKD2	Increased intramyocellular lipid droplets	HP:0012240
22868	FASTKD2	Heterogeneous	HP:0001425
22868	FASTKD2	Mitochondrial inheritance	HP:0001427
22868	FASTKD2	Sensorineural hearing impairment	HP:0000407
22868	FASTKD2	Exercise intolerance	HP:0003546
22868	FASTKD2	Aminoaciduria	HP:0003355
22868	FASTKD2	Proteinuria	HP:0000093
22868	FASTKD2	Intellectual disability	HP:0001249
22868	FASTKD2	Seizures	HP:0001250
22868	FASTKD2	Ataxia	HP:0001251
22868	FASTKD2	Failure to thrive	HP:0001508
22868	FASTKD2	Muscular hypotonia	HP:0001252
22868	FASTKD2	Increased hepatocellular lipid droplets	HP:0006565
22868	FASTKD2	Hyperphosphaturia	HP:0003109
22868	FASTKD2	Hypertrophic cardiomyopathy	HP:0001639
22868	FASTKD2	Increased serum lactate	HP:0002151
22868	FASTKD2	Cytochrome C oxidase-negative muscle fibers	HP:0003688
22868	FASTKD2	Global developmental delay	HP:0001263
22868	FASTKD2	Anemia	HP:0001903
22868	FASTKD2	Leukoencephalopathy	HP:0002352
22868	FASTKD2	Respiratory distress	HP:0002098
22868	FASTKD2	Motor delay	HP:0001270
22868	FASTKD2	Lactic acidosis	HP:0003128
22868	FASTKD2	Increased CSF lactate	HP:0002490
22868	FASTKD2	Exertional dyspnea	HP:0002875
22868	FASTKD2	Respiratory insufficiency due to muscle weakness	HP:0002747
22868	FASTKD2	Renal tubular dysfunction	HP:0000124
22868	FASTKD2	Ptosis	HP:0000508
6487	ST3GAL3	Irritability	HP:0000737
6487	ST3GAL3	Intellectual disability	HP:0001249
6487	ST3GAL3	Epileptic encephalopathy	HP:0200134
6487	ST3GAL3	Central hypotonia	HP:0011398
6487	ST3GAL3	Autosomal recessive inheritance	HP:0000007
6487	ST3GAL3	Developmental regression	HP:0002376
6487	ST3GAL3	Generalized hypotonia	HP:0001290
6487	ST3GAL3	Intellectual disability, profound	HP:0002187
6487	ST3GAL3	Inability to walk	HP:0002540
6487	ST3GAL3	Primitive reflex	HP:0002476
6487	ST3GAL3	Global developmental delay	HP:0001263
6487	ST3GAL3	Poor eye contact	HP:0000817
6487	ST3GAL3	Abnormality of skin morphology	HP:0011121
6487	ST3GAL3	Infantile spasms	HP:0012469
6487	ST3GAL3	Myoclonus	HP:0001336
6487	ST3GAL3	Hypsarrhythmia	HP:0002521
6487	ST3GAL3	Epileptic spasms	HP:0011097
80217	CFAP43	Infertility	HP:0000789
55640	FLVCR2	Akinesia	HP:0002304
55640	FLVCR2	Seizures	HP:0001250
55640	FLVCR2	Autosomal recessive inheritance	HP:0000007
55640	FLVCR2	Intrauterine growth retardation	HP:0001511
55640	FLVCR2	Cerebellar hypoplasia	HP:0001321
55640	FLVCR2	Hydrocephalus	HP:0000238
55640	FLVCR2	Global developmental delay	HP:0001263
55640	FLVCR2	Abnormality of metabolism/homeostasis	HP:0001939
55640	FLVCR2	Hydranencephaly	HP:0002324
55640	FLVCR2	Premature birth	HP:0001622
55640	FLVCR2	Polyhydramnios	HP:0001561
55640	FLVCR2	Dandy-Walker malformation	HP:0001305
55640	FLVCR2	Agenesis of corpus callosum	HP:0001274
55640	FLVCR2	Flexion contracture	HP:0001371
55640	FLVCR2	Micrognathia	HP:0000347
55640	FLVCR2	Hypoplasia of the brainstem	HP:0002365
6491	STIL	Intellectual disability	HP:0001249
6491	STIL	Short stature	HP:0004322
6491	STIL	Hyperreflexia	HP:0001347
6491	STIL	Hypoplasia of the frontal lobes	HP:0007333
6491	STIL	Upslanted palpebral fissure	HP:0000582
6491	STIL	Ventriculomegaly	HP:0002119
6491	STIL	Autosomal recessive inheritance	HP:0000007
6491	STIL	Gray matter heterotopia	HP:0002282
6491	STIL	Vesicoureteral reflux	HP:0000076
6491	STIL	Global developmental delay	HP:0001263
6491	STIL	Intellectual disability, severe	HP:0010864
6491	STIL	Sloping forehead	HP:0000340
6491	STIL	Pachygyria	HP:0001302
6491	STIL	Simplified gyral pattern	HP:0009879
6491	STIL	Congenital onset	HP:0003577
6491	STIL	Unilateral renal agenesis	HP:0000122
6491	STIL	Agenesis of corpus callosum	HP:0001274
6491	STIL	Thin upper lip vermilion	HP:0000219
6491	STIL	Microcephaly	HP:0000252
6491	STIL	Abnormal cortical bone morphology	HP:0003103
6492	SIM1	Macrocephaly	HP:0000256
6492	SIM1	Autosomal dominant inheritance	HP:0000006
6492	SIM1	Autosomal recessive inheritance	HP:0000007
6492	SIM1	Hyperinsulinemia	HP:0000842
6492	SIM1	Increased waist to hip ratio	HP:0031819
6492	SIM1	Narrow nose	HP:0000460
6492	SIM1	Autism	HP:0000717
6492	SIM1	Macrotia	HP:0000400
6492	SIM1	Vitamin B1 deficiency	HP:0100503
6492	SIM1	Abnormality of cardiovascular system morphology	HP:0030680
6492	SIM1	Autistic behavior	HP:0000729
6492	SIM1	High palate	HP:0000218
6492	SIM1	Bulbous nose	HP:0000414
6492	SIM1	Tapered finger	HP:0001182
6492	SIM1	Epicanthus	HP:0000286
6492	SIM1	Polyphagia	HP:0002591
6492	SIM1	Glucose intolerance	HP:0001952
6492	SIM1	Myopia	HP:0000545
6492	SIM1	Short stature	HP:0004322
6492	SIM1	Muscular hypotonia	HP:0001252
6492	SIM1	Full cheeks	HP:0000293
6492	SIM1	Strabismus	HP:0000486
6492	SIM1	Polygenic inheritance	HP:0010982
6492	SIM1	Obesity	HP:0001513
6492	SIM1	Prominent nasal bridge	HP:0000426
6492	SIM1	Attention deficit hyperactivity disorder	HP:0007018
6492	SIM1	Short foot	HP:0001773
6492	SIM1	Delayed speech and language development	HP:0000750
6492	SIM1	Global developmental delay	HP:0001263
6492	SIM1	Clinodactyly of the 5th finger	HP:0004209
6492	SIM1	Low-set ears	HP:0000369
6492	SIM1	EEG abnormality	HP:0002353
6492	SIM1	Memory impairment	HP:0002354
6492	SIM1	Misalignment of teeth	HP:0000692
6492	SIM1	Microretrognathia	HP:0000308
6492	SIM1	Decreased resting energy expenditure	HP:0012340
6492	SIM1	Short palm	HP:0004279
6492	SIM1	Round face	HP:0000311
6492	SIM1	Brachycephaly	HP:0000248
6492	SIM1	Postural hypotension with compensatory tachycardia	HP:0005307
6492	SIM1	Hypertelorism	HP:0000316
6492	SIM1	Microcephaly	HP:0000252
6492	SIM1	Nystagmus	HP:0000639
55644	OSGEP	Hypoalbuminemia	HP:0003073
55644	OSGEP	Generalized hypotonia	HP:0001290
55644	OSGEP	Cerebral atrophy	HP:0002059
55644	OSGEP	Camptodactyly of finger	HP:0100490
55644	OSGEP	Arachnodactyly	HP:0001166
55644	OSGEP	Macrotia	HP:0000400
55644	OSGEP	Pachygyria	HP:0001302
55644	OSGEP	Hemiplegia/hemiparesis	HP:0004374
55644	OSGEP	Simplified gyral pattern	HP:0009879
55644	OSGEP	Midface retrusion	HP:0011800
55644	OSGEP	Adducted thumb	HP:0001181
55644	OSGEP	Epicanthus	HP:0000286
55644	OSGEP	Hypoplasia of the corpus callosum	HP:0002079
55644	OSGEP	Narrow mouth	HP:0000160
55644	OSGEP	Abnormality of the dentition	HP:0000164
55644	OSGEP	Diffuse mesangial sclerosis	HP:0001967
55644	OSGEP	EEG abnormality	HP:0002353
55644	OSGEP	Microphthalmia	HP:0000568
55644	OSGEP	Hypertelorism	HP:0000316
55644	OSGEP	Stage 5 chronic kidney disease	HP:0003774
55644	OSGEP	Cognitive impairment	HP:0100543
55644	OSGEP	Ventriculomegaly	HP:0002119
55644	OSGEP	Edema	HP:0000969
55644	OSGEP	Sloping forehead	HP:0000340
55644	OSGEP	Narrow forehead	HP:0000341
55644	OSGEP	Premature birth	HP:0001622
55644	OSGEP	Hypotelorism	HP:0000601
55644	OSGEP	High palate	HP:0000218
55644	OSGEP	Micrognathia	HP:0000347
55644	OSGEP	Proteinuria	HP:0000093
55644	OSGEP	Glomerulosclerosis	HP:0000096
55644	OSGEP	Intellectual disability	HP:0001249
55644	OSGEP	Camptodactyly	HP:0012385
55644	OSGEP	Seizures	HP:0001250
55644	OSGEP	Abnormality of immune system physiology	HP:0010978
55644	OSGEP	Short stature	HP:0004322
55644	OSGEP	Nephrotic syndrome	HP:0000100
55644	OSGEP	Failure to thrive	HP:0001508
55644	OSGEP	Muscular hypotonia	HP:0001252
55644	OSGEP	Strabismus	HP:0000486
55644	OSGEP	Intrauterine growth retardation	HP:0001511
55644	OSGEP	Spasticity	HP:0001257
55644	OSGEP	Deeply set eye	HP:0000490
55644	OSGEP	Aqueductal stenosis	HP:0002410
55644	OSGEP	Downslanted palpebral fissures	HP:0000494
55644	OSGEP	Delayed speech and language development	HP:0000750
55644	OSGEP	Global developmental delay	HP:0001263
55644	OSGEP	Nephropathy	HP:0000112
55644	OSGEP	Low-set ears	HP:0000369
55644	OSGEP	Hypoplasia of the ear cartilage	HP:0100720
55644	OSGEP	Abnormality of the intervertebral disk	HP:0005108
55644	OSGEP	Hiatus hernia	HP:0002036
55644	OSGEP	Cerebellar atrophy	HP:0001272
55644	OSGEP	Visual impairment	HP:0000505
55644	OSGEP	Microcephaly	HP:0000252
55644	OSGEP	Hypertonia	HP:0001276
6495	SIX1	Preauricular skin tag	HP:0000384
6495	SIX1	Multicystic kidney dysplasia	HP:0000003
6495	SIX1	Facial palsy	HP:0010628
6495	SIX1	Autosomal dominant inheritance	HP:0000006
6495	SIX1	Abnormal renal collecting system morphology	HP:0004742
6495	SIX1	Intestinal malrotation	HP:0002566
6495	SIX1	Hypoplasia of the cochlea	HP:0008586
6495	SIX1	Abnormality of the cerebrum	HP:0002060
6495	SIX1	Heterogeneous	HP:0001425
6495	SIX1	Stenosis of the external auditory canal	HP:0000402
6495	SIX1	Narrow face	HP:0000275
6495	SIX1	Long face	HP:0000276
6495	SIX1	Conductive hearing impairment	HP:0000405
6495	SIX1	Retrognathia	HP:0000278
6495	SIX1	Commissural lip pit	HP:0002710
6495	SIX1	Sensorineural hearing impairment	HP:0000407
6495	SIX1	Mixed hearing impairment	HP:0000410
6495	SIX1	Atresia of the external auditory canal	HP:0000413
6495	SIX1	Renal steatosis	HP:0000799
6495	SIX1	Morphological abnormality of the middle ear	HP:0008609
6495	SIX1	Lip pit	HP:0100267
6495	SIX1	Cleft palate	HP:0000175
6495	SIX1	Gustatory lacrimation	HP:0100274
6495	SIX1	Microdontia	HP:0000691
6495	SIX1	Bifid uvula	HP:0000193
6495	SIX1	Branchial fistula	HP:0009795
6495	SIX1	Facial asymmetry	HP:0000324
6495	SIX1	Branchial cyst	HP:0009796
6495	SIX1	Cholesteatoma	HP:0009797
6495	SIX1	Euthyroid goiter	HP:0009798
6495	SIX1	Ureteropelvic junction obstruction	HP:0000074
6495	SIX1	Vesicoureteral reflux	HP:0000076
6495	SIX1	Renal insufficiency	HP:0000083
6495	SIX1	Overbite	HP:0011094
6495	SIX1	Abnormal lacrimal duct morphology	HP:0011481
6495	SIX1	High palate	HP:0000218
6495	SIX1	Micrognathia	HP:0000347
6495	SIX1	Congenital hip dislocation	HP:0001374
6495	SIX1	Abnormality of the middle ear ossicles	HP:0004452
6495	SIX1	Abnormal nasolacrimal system morphology	HP:0000614
6495	SIX1	Renal hypoplasia/aplasia	HP:0008678
6495	SIX1	Microtia	HP:0008551
6495	SIX1	Renal malrotation	HP:0004712
6495	SIX1	Renal agenesis	HP:0000104
6495	SIX1	Dilatated internal auditory canal	HP:0004458
6495	SIX1	Hearing impairment	HP:0000365
6495	SIX1	Renal dysplasia	HP:0000110
6495	SIX1	Polycystic kidney dysplasia	HP:0000113
6495	SIX1	Preauricular pit	HP:0004467
6495	SIX1	Variable expressivity	HP:0003828
6495	SIX1	Lacrimal duct aplasia	HP:0007925
6495	SIX1	Incomplete penetrance	HP:0003829
6495	SIX1	Lacrimation abnormality	HP:0000632
6495	SIX1	Incomplete partition of the cochlea type II	HP:0000376
6495	SIX1	Cupped ear	HP:0000378
6495	SIX1	External ear malformation	HP:0008572
6495	SIX1	Enlarged cochlear aqueduct	HP:0011388
6495	SIX1	Hydronephrosis	HP:0000126
6495	SIX1	Lacrimal duct stenosis	HP:0007678
80222	TARS2	Hepatic steatosis	HP:0001397
80222	TARS2	Autosomal recessive inheritance	HP:0000007
80222	TARS2	Increased serum lactate	HP:0002151
80222	TARS2	Muscular hypotonia of the trunk	HP:0008936
80222	TARS2	Congenital onset	HP:0003577
80222	TARS2	Generalized hypotonia	HP:0001290
80222	TARS2	Limb hypertonia	HP:0002509
80222	TARS2	Global developmental delay	HP:0001263
80222	TARS2	Hypoplasia of the corpus callosum	HP:0002079
6496	SIX3	EMG: myopathic abnormalities	HP:0003458
6496	SIX3	Anterior pituitary agenesis	HP:0010626
6496	SIX3	Hemangioma	HP:0001028
6496	SIX3	Proboscis	HP:0012806
6496	SIX3	Autosomal dominant inheritance	HP:0000006
6496	SIX3	Generalized hypotonia	HP:0001290
6496	SIX3	Schizencephaly	HP:0010636
6496	SIX3	Malar flattening	HP:0000272
6496	SIX3	Heterogeneous	HP:0001425
6496	SIX3	Midnasal stenosis	HP:0010644
6496	SIX3	Midface retrusion	HP:0011800
6496	SIX3	Absent nasal septal cartilage	HP:0005273
6496	SIX3	Hypoplasia of penis	HP:0008736
6496	SIX3	Sporadic	HP:0003745
6496	SIX3	Cerebellar hypoplasia	HP:0001321
6496	SIX3	Single median maxillary incisor	HP:0006315
6496	SIX3	Cleft palate	HP:0000175
6496	SIX3	Submucous cleft hard palate	HP:0000176
6496	SIX3	Asthma	HP:0002099
6496	SIX3	Tented upper lip vermilion	HP:0010804
6496	SIX3	Hypothyroidism	HP:0000821
6496	SIX3	Median cleft lip and palate	HP:0008501
6496	SIX3	Microphthalmia	HP:0000568
6496	SIX3	Cyclopia	HP:0009914
6496	SIX3	Narrow nasal bridge	HP:0000446
6496	SIX3	Ambiguous genitalia	HP:0000062
6496	SIX3	Bifid uvula	HP:0000193
6496	SIX3	Short philtrum	HP:0000322
6496	SIX3	Adrenal hypoplasia	HP:0000835
6496	SIX3	Choanal atresia	HP:0000453
6496	SIX3	Duodenal atresia	HP:0002247
6496	SIX3	Aplasia of the nose	HP:0009927
6496	SIX3	Maternal diabetes	HP:0009800
6496	SIX3	Cerebral cortical atrophy	HP:0002120
6496	SIX3	Anteverted nares	HP:0000463
6496	SIX3	Holoprosencephaly	HP:0001360
6496	SIX3	Premature birth	HP:0001622
6496	SIX3	Single ventricle	HP:0001750
6496	SIX3	Hypotelorism	HP:0000601
6496	SIX3	Scoliosis	HP:0002650
6496	SIX3	Intellectual disability	HP:0001249
6496	SIX3	Short stature	HP:0004322
6496	SIX3	Seizures	HP:0001250
6496	SIX3	Constipation	HP:0002019
6496	SIX3	Iris coloboma	HP:0000612
6496	SIX3	Tetralogy of Fallot	HP:0001636
6496	SIX3	Muscular hypotonia	HP:0001252
6496	SIX3	Strabismus	HP:0000486
6496	SIX3	Panhypopituitarism	HP:0000871
6496	SIX3	Intrauterine growth retardation	HP:0001511
6496	SIX3	Renal agenesis	HP:0000104
6496	SIX3	Diabetes insipidus	HP:0000873
6496	SIX3	Global developmental delay	HP:0001263
6496	SIX3	Variable expressivity	HP:0003828
6496	SIX3	Incomplete penetrance	HP:0003829
6496	SIX3	Agenesis of corpus callosum	HP:0001274
6496	SIX3	Short nose	HP:0003196
6496	SIX3	Microcephaly	HP:0000252
22880	MORC2	Pes cavus	HP:0001761
22880	MORC2	Muscle spasm	HP:0003394
22880	MORC2	Foot dorsiflexor weakness	HP:0009027
22880	MORC2	Areflexia	HP:0001284
22880	MORC2	Autosomal dominant inheritance	HP:0000006
22880	MORC2	Generalized hypotonia	HP:0001290
22880	MORC2	Myokymia	HP:0002411
22880	MORC2	Fasciculations	HP:0002380
22880	MORC2	Hearing impairment	HP:0000365
22880	MORC2	Global developmental delay	HP:0001263
22880	MORC2	Difficulty walking	HP:0002355
22880	MORC2	Split hand	HP:0001171
22880	MORC2	Urinary incontinence	HP:0000020
22880	MORC2	High pitched voice	HP:0001620
22880	MORC2	Proximal muscle weakness	HP:0003701
22880	MORC2	Motor delay	HP:0001270
22880	MORC2	Abnormal pyramidal sign	HP:0007256
22880	MORC2	Distal sensory impairment	HP:0002936
22880	MORC2	Scoliosis	HP:0002650
22880	MORC2	Hypertonia	HP:0001276
22880	MORC2	Slow progression	HP:0003677
80224	NUBPL	Poor speech	HP:0002465
80224	NUBPL	Ataxia	HP:0001251
80224	NUBPL	Hyperreflexia	HP:0001347
80224	NUBPL	Abnormal cerebellum morphology	HP:0001317
80224	NUBPL	Strabismus	HP:0000486
80224	NUBPL	Absence seizure	HP:0002121
80224	NUBPL	Spasticity	HP:0001257
80224	NUBPL	Dysarthria	HP:0001260
80224	NUBPL	Global developmental delay	HP:0001263
80224	NUBPL	Leukodystrophy	HP:0002415
80224	NUBPL	Leukoencephalopathy	HP:0002352
80224	NUBPL	Difficulty walking	HP:0002355
80224	NUBPL	Variable expressivity	HP:0003828
80224	NUBPL	Abnormal mitochondria in muscle tissue	HP:0008316
80224	NUBPL	Myopathy	HP:0003198
80224	NUBPL	Babinski sign	HP:0003487
80224	NUBPL	Nystagmus	HP:0000639
6497	SKI	Genu recurvatum	HP:0002816
6497	SKI	Pectus carinatum	HP:0000768
6497	SKI	Umbilical hernia	HP:0001537
6497	SKI	Joint contracture of the hand	HP:0009473
6497	SKI	Wide anterior fontanel	HP:0000260
6497	SKI	Arnold-Chiari malformation	HP:0002308
6497	SKI	Cataract	HP:0000518
6497	SKI	Autosomal dominant inheritance	HP:0000006
6497	SKI	Narrow chest	HP:0000774
6497	SKI	Gait disturbance	HP:0001288
6497	SKI	Proptosis	HP:0000520
6497	SKI	Generalized hypotonia	HP:0001290
6497	SKI	Dislocated radial head	HP:0003083
6497	SKI	Dolichocephaly	HP:0000268
6497	SKI	Delayed cranial suture closure	HP:0000270
6497	SKI	Hemiplegia/hemiparesis	HP:0004374
6497	SKI	Retrognathia	HP:0000278
6497	SKI	Inguinal hernia	HP:0000023
6497	SKI	Midface retrusion	HP:0011800
6497	SKI	Abnormality of the anus	HP:0004378
6497	SKI	Cryptorchidism	HP:0000028
6497	SKI	Epicanthus	HP:0000286
6497	SKI	Polyphagia	HP:0002591
6497	SKI	Hypoplasia of penis	HP:0008736
6497	SKI	Myopia	HP:0000545
6497	SKI	Foot polydactyly	HP:0001829
6497	SKI	Genu valgum	HP:0002857
6497	SKI	Hypospadias	HP:0000047
6497	SKI	Metatarsus adductus	HP:0001840
6497	SKI	EEG abnormality	HP:0002353
6497	SKI	High hypermetropia	HP:0008499
6497	SKI	Pointed chin	HP:0000307
6497	SKI	Hypothyroidism	HP:0000821
6497	SKI	Obstructive sleep apnea	HP:0002870
6497	SKI	Communicating hydrocephalus	HP:0001334
6497	SKI	Abnormality of female external genitalia	HP:0000055
6497	SKI	Apnea	HP:0002104
6497	SKI	Hypertelorism	HP:0000316
6497	SKI	Joint hyperflexibility	HP:0005692
6497	SKI	Abdominal wall muscle weakness	HP:0009023
6497	SKI	Absent speech	HP:0001344
6497	SKI	Ventriculomegaly	HP:0002119
6497	SKI	Hypoplasia of the maxilla	HP:0000327
6497	SKI	Cerebral cortical atrophy	HP:0002120
6497	SKI	Shallow orbits	HP:0000586
6497	SKI	Aortic aneurysm	HP:0004942
6497	SKI	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
6497	SKI	Ocular albinism	HP:0001107
6497	SKI	Craniosynostosis	HP:0001363
6497	SKI	Long philtrum	HP:0000343
6497	SKI	Spinal canal stenosis	HP:0003416
6497	SKI	Scoliosis	HP:0002650
6497	SKI	Micrognathia	HP:0000347
6497	SKI	High forehead	HP:0000348
6497	SKI	Camptodactyly	HP:0012385
6497	SKI	Mitral valve prolapse	HP:0001634
6497	SKI	Tetralogy of Fallot	HP:0001636
6497	SKI	Joint hypermobility	HP:0001382
6497	SKI	Posteriorly rotated ears	HP:0000358
6497	SKI	Microtia	HP:0008551
6497	SKI	Hip dysplasia	HP:0001385
6497	SKI	Patent ductus arteriosus	HP:0001643
6497	SKI	Renal cyst	HP:0000107
6497	SKI	Joint stiffness	HP:0001387
6497	SKI	Dilated cardiomyopathy	HP:0001644
6497	SKI	Joint laxity	HP:0001388
6497	SKI	Self-injurious behavior	HP:0100716
6497	SKI	11 pairs of ribs	HP:0000878
6497	SKI	Abnormal aortic valve morphology	HP:0001646
6497	SKI	Low-set, posteriorly rotated ears	HP:0000368
6497	SKI	Clinodactyly of the 5th finger	HP:0004209
6497	SKI	Low-set ears	HP:0000369
6497	SKI	Thin ribs	HP:0000883
6497	SKI	Hepatic steatosis	HP:0001397
6497	SKI	Mitral regurgitation	HP:0001653
6497	SKI	Abnormal heart valve morphology	HP:0001654
6497	SKI	Abnormality of the pinna	HP:0000377
6497	SKI	Bifid ribs	HP:0000892
6497	SKI	Hydronephrosis	HP:0000126
6497	SKI	Myopathy	HP:0003198
6497	SKI	Nystagmus	HP:0000639
6497	SKI	Lateral clavicle hook	HP:0000895
6497	SKI	Abnormal blistering of the skin	HP:0008066
6497	SKI	Brachydactyly	HP:0001156
6497	SKI	Minimal subcutaneous fat	HP:0003717
6497	SKI	Rib fusion	HP:0000902
6497	SKI	Hypogonadism	HP:0000135
6497	SKI	Abnormal cardiac septum morphology	HP:0001671
6497	SKI	Optic atrophy	HP:0000648
6497	SKI	Camptodactyly of finger	HP:0100490
6497	SKI	Arachnodactyly	HP:0001166
6497	SKI	High, narrow palate	HP:0002705
6497	SKI	Conductive hearing impairment	HP:0000405
6497	SKI	Sensorineural hearing impairment	HP:0000407
6497	SKI	Missing ribs	HP:0000921
6497	SKI	Protruding ear	HP:0000411
6497	SKI	Narrow mouth	HP:0000160
6497	SKI	Depressed nasal bridge	HP:0005280
6497	SKI	Poor speech	HP:0002465
6497	SKI	Sporadic	HP:0003745
6497	SKI	Cranial nerve paralysis	HP:0006824
6497	SKI	Feeding difficulties in infancy	HP:0008872
6497	SKI	Osteopenia	HP:0000938
6497	SKI	Wide nasal bridge	HP:0000431
6497	SKI	Abnormality of the metaphysis	HP:0000944
6497	SKI	Dental malocclusion	HP:0000689
6497	SKI	Generalized hirsutism	HP:0002230
6497	SKI	Supernumerary ribs	HP:0005815
6497	SKI	Arnold-Chiari type I malformation	HP:0007099
6497	SKI	Macule	HP:0012733
6497	SKI	Narrow palate	HP:0000189
6497	SKI	Neuroblastoma	HP:0003006
6497	SKI	Abnormal intestine morphology	HP:0002242
6497	SKI	Annular pancreas	HP:0001734
6497	SKI	Metaphyseal widening	HP:0003016
6497	SKI	Depressed nasal ridge	HP:0000457
6497	SKI	Autism	HP:0000717
6497	SKI	Lower limb asymmetry	HP:0100559
6497	SKI	Hyperextensible skin	HP:0000974
6497	SKI	Abnormality of the spleen	HP:0001743
6497	SKI	Anteverted nares	HP:0000463
6497	SKI	Abnormality of the neck	HP:0000464
6497	SKI	Prominent forehead	HP:0011220
6497	SKI	Frontal bossing	HP:0002007
6497	SKI	High palate	HP:0000218
6497	SKI	Horizontal eyebrow	HP:0011228
6497	SKI	Stereotypy	HP:0000733
6497	SKI	Dysphagia	HP:0002015
6497	SKI	Intellectual disability	HP:0001249
6497	SKI	Seizures	HP:0001250
6497	SKI	Short stature	HP:0004322
6497	SKI	Talipes equinovarus	HP:0001762
6497	SKI	Elbow dislocation	HP:0003042
6497	SKI	Constipation	HP:0002019
6497	SKI	Pes planus	HP:0001763
6497	SKI	Failure to thrive	HP:0001508
6497	SKI	Gastroesophageal reflux	HP:0002020
6497	SKI	Muscular hypotonia	HP:0001252
6497	SKI	Pyloric stenosis	HP:0002021
6497	SKI	Strabismus	HP:0000486
6497	SKI	Obesity	HP:0001513
6497	SKI	Deeply set eye	HP:0000490
6497	SKI	Short foot	HP:0001773
6497	SKI	Downslanted palpebral fissures	HP:0000494
6497	SKI	Hydrocephalus	HP:0000238
6497	SKI	Global developmental delay	HP:0001263
6497	SKI	Abnormal form of the vertebral bodies	HP:0003312
6497	SKI	Telangiectasia	HP:0001009
6497	SKI	Brachyturricephaly	HP:0000244
6497	SKI	Brachycephaly	HP:0000248
6497	SKI	Kyphosis	HP:0002808
6497	SKI	C1-C2 vertebral abnormality	HP:0008440
6497	SKI	Visual impairment	HP:0000505
6497	SKI	Aortic arch aneurysm	HP:0005113
6497	SKI	Agenesis of corpus callosum	HP:0001274
6497	SKI	Telecanthus	HP:0000506
6497	SKI	Microcephaly	HP:0000252
6497	SKI	Ptosis	HP:0000508
6497	SKI	Pectus excavatum	HP:0000767
55650	PIGV	Feeding difficulties	HP:0011968
55650	PIGV	Small nail	HP:0001792
55650	PIGV	Delayed ossification of carpal bones	HP:0001216
55650	PIGV	Absent speech	HP:0001344
55650	PIGV	Athetosis	HP:0002305
55650	PIGV	Short philtrum	HP:0000322
55650	PIGV	Abnormally large globe	HP:0001090
55650	PIGV	Hyperconvex nail	HP:0001795
55650	PIGV	Upslanted palpebral fissure	HP:0000582
55650	PIGV	Autosomal recessive inheritance	HP:0000007
55650	PIGV	Broad nasal tip	HP:0000455
55650	PIGV	Cerebral cortical atrophy	HP:0002120
55650	PIGV	Anteriorly placed anus	HP:0001545
55650	PIGV	Generalized hypotonia	HP:0001290
55650	PIGV	Aganglionic megacolon	HP:0002251
55650	PIGV	Psychomotor retardation	HP:0025356
55650	PIGV	Cleft upper lip	HP:0000204
55650	PIGV	Plagiocephaly	HP:0001357
55650	PIGV	Malar flattening	HP:0000272
55650	PIGV	Elevated alkaline phosphatase	HP:0003155
55650	PIGV	Sensorineural hearing impairment	HP:0000407
55650	PIGV	Midface retrusion	HP:0011800
55650	PIGV	Downturned corners of mouth	HP:0002714
55650	PIGV	Short distal phalanx of finger	HP:0009882
55650	PIGV	Abnormal heart morphology	HP:0001627
55650	PIGV	Thin upper lip vermilion	HP:0000219
55650	PIGV	Tapered finger	HP:0001182
55650	PIGV	Delayed myelination	HP:0012448
55650	PIGV	Intellectual disability	HP:0001249
55650	PIGV	Seizures	HP:0001250
55650	PIGV	Constipation	HP:0002019
55650	PIGV	Muscular hypotonia	HP:0001252
55650	PIGV	Posteriorly rotated ears	HP:0000358
55650	PIGV	Short toe	HP:0001831
55650	PIGV	Hearing impairment	HP:0000365
55650	PIGV	Hydrocephalus	HP:0000238
55650	PIGV	Cleft palate	HP:0000175
55650	PIGV	Wide nasal bridge	HP:0000431
55650	PIGV	Mandibular prognathia	HP:0000303
55650	PIGV	Intellectual disability, severe	HP:0010864
55650	PIGV	Abnormality of the rectum	HP:0002034
55650	PIGV	Abnormal renal morphology	HP:0012210
55650	PIGV	Tented upper lip vermilion	HP:0010804
55650	PIGV	Highly arched eyebrow	HP:0002553
55650	PIGV	Hypertelorism	HP:0000316
55650	PIGV	Short nose	HP:0003196
55650	PIGV	Long palpebral fissure	HP:0000637
55651	NHP2	Small nail	HP:0001792
55651	NHP2	Aplastic/hypoplastic toenail	HP:0010624
55651	NHP2	Aplasia/Hypoplasia of the skin	HP:0008065
55651	NHP2	Abnormal blistering of the skin	HP:0008066
55651	NHP2	Reticulated skin pigmentation	HP:0007427
55651	NHP2	Avascular necrosis	HP:0010885
55651	NHP2	Cataract	HP:0000518
55651	NHP2	Sparse hair	HP:0008070
55651	NHP2	Autosomal recessive inheritance	HP:0000007
55651	NHP2	Abnormality of female internal genitalia	HP:0000008
55651	NHP2	Abnormality of coagulation	HP:0001928
55651	NHP2	Hypermelanotic macule	HP:0001034
55651	NHP2	Sparse eyelashes	HP:0000653
55651	NHP2	Tracheoesophageal fistula	HP:0002575
55651	NHP2	Displacement of the urethral meatus	HP:0100627
55651	NHP2	Abnormal eyebrow morphology	HP:0000534
55651	NHP2	Bone marrow hypocellularity	HP:0005528
55651	NHP2	Hypodontia	HP:0000668
55651	NHP2	Testicular atrophy	HP:0000029
55651	NHP2	Recurrent respiratory infections	HP:0002205
55651	NHP2	Hypopigmented skin patches	HP:0001053
55651	NHP2	Pulmonary fibrosis	HP:0002206
55651	NHP2	Carious teeth	HP:0000670
55651	NHP2	Sparse scalp hair	HP:0002209
55651	NHP2	Pterygium	HP:0001059
55651	NHP2	Abnormal testis morphology	HP:0000035
55651	NHP2	Taurodontia	HP:0000679
55651	NHP2	Premature graying of hair	HP:0002216
55651	NHP2	Osteoporosis	HP:0000939
55651	NHP2	Microdontia	HP:0000691
55651	NHP2	Diabetes mellitus	HP:0000819
55651	NHP2	Hyperpigmentation of the skin	HP:0000953
55651	NHP2	Oral leukoplakia	HP:0002745
55651	NHP2	Anorectal anomaly	HP:0012732
55651	NHP2	Alopecia	HP:0001596
55651	NHP2	Rough bone trabeculation	HP:0100670
55651	NHP2	Hepatomegaly	HP:0002240
55651	NHP2	Periodontitis	HP:0000704
55651	NHP2	Nasolacrimal duct obstruction	HP:0000579
55651	NHP2	Recurrent fractures	HP:0002757
55651	NHP2	Epiphora	HP:0009926
55651	NHP2	Hypoplasia of the maxilla	HP:0000327
55651	NHP2	Neoplasm of the pancreas	HP:0002894
55651	NHP2	Abnormal fingernail morphology	HP:0001231
55651	NHP2	Hyperhidrosis	HP:0000975
55651	NHP2	Splenomegaly	HP:0001744
55651	NHP2	Thrombocytopenia	HP:0001873
55651	NHP2	Cerebral calcification	HP:0002514
55651	NHP2	Esophageal stenosis	HP:0010450
55651	NHP2	Abnormality of neutrophils	HP:0001874
55651	NHP2	Pancytopenia	HP:0001876
55651	NHP2	Nail dystrophy	HP:0008404
55651	NHP2	Urethral stenosis	HP:0008661
55651	NHP2	Palmoplantar keratoderma	HP:0000982
55651	NHP2	Abnormality of the pharynx	HP:0000600
55651	NHP2	Scoliosis	HP:0002650
55651	NHP2	Intellectual disability	HP:0001249
55651	NHP2	Short stature	HP:0004322
55651	NHP2	White hair	HP:0011364
55651	NHP2	Growth delay	HP:0001510
55651	NHP2	Skin vesicle	HP:0200037
55651	NHP2	Intrauterine growth retardation	HP:0001511
55651	NHP2	Malabsorption	HP:0002024
55651	NHP2	Telangiectasia of the skin	HP:0100585
55651	NHP2	Skin ulcer	HP:0200042
55651	NHP2	Lymphoma	HP:0002665
55651	NHP2	Hearing impairment	HP:0000365
55651	NHP2	Anemia	HP:0001903
55651	NHP2	Global developmental delay	HP:0001263
55651	NHP2	Cirrhosis	HP:0001394
55651	NHP2	Blepharitis	HP:0000498
55651	NHP2	Hepatic fibrosis	HP:0001395
55651	NHP2	Abnormal eyelash morphology	HP:0000499
55651	NHP2	Nail dysplasia	HP:0002164
55651	NHP2	Pterygium of nails	HP:0002165
55651	NHP2	Hepatic failure	HP:0001399
55651	NHP2	Esophageal stricture	HP:0002043
55651	NHP2	Aplastic anemia	HP:0001915
55651	NHP2	Microcephaly	HP:0000252
55651	NHP2	Cellular immunodeficiency	HP:0005374
6499	SKIV2L	Hepatomegaly	HP:0002240
6499	SKIV2L	Immunodeficiency	HP:0002721
6499	SKIV2L	Failure to thrive	HP:0001508
6499	SKIV2L	Sparse hair	HP:0008070
6499	SKIV2L	Autosomal recessive inheritance	HP:0000007
6499	SKIV2L	Intrauterine growth retardation	HP:0001511
6499	SKIV2L	Uncombable hair	HP:0030056
6499	SKIV2L	Small for gestational age	HP:0001518
6499	SKIV2L	Decreased serum iron	HP:0040303
6499	SKIV2L	Woolly hair	HP:0002224
6499	SKIV2L	Villous atrophy	HP:0011473
6499	SKIV2L	Cirrhosis	HP:0001394
6499	SKIV2L	Hepatitis	HP:0012115
6499	SKIV2L	Prominent forehead	HP:0011220
6499	SKIV2L	Colitis	HP:0002583
6499	SKIV2L	Pili canaliculi	HP:0002235
6499	SKIV2L	Brittle hair	HP:0002299
6499	SKIV2L	Hypertelorism	HP:0000316
6499	SKIV2L	Wide nose	HP:0000445
6499	SKIV2L	Diarrhea	HP:0002014
6499	SKIV2L	Trichorrhexis nodosa	HP:0009886
285025	CCDC141	Dyspareunia	HP:0030016
285025	CCDC141	Ichthyosis	HP:0008064
285025	CCDC141	Gynecomastia	HP:0000771
285025	CCDC141	Recurrent fractures	HP:0002757
285025	CCDC141	Autosomal dominant inheritance	HP:0000006
285025	CCDC141	Autosomal recessive inheritance	HP:0000007
285025	CCDC141	Gait disturbance	HP:0001288
285025	CCDC141	Abnormality of the voice	HP:0001608
285025	CCDC141	Anosmia	HP:0000458
285025	CCDC141	Reduced number of teeth	HP:0009804
285025	CCDC141	Decreased fertility	HP:0000144
285025	CCDC141	Primary amenorrhea	HP:0000786
285025	CCDC141	Infertility	HP:0000789
285025	CCDC141	Sensorineural hearing impairment	HP:0000407
285025	CCDC141	Abnormality of cardiovascular system morphology	HP:0030680
285025	CCDC141	Cryptorchidism	HP:0000028
285025	CCDC141	Skeletal dysplasia	HP:0002652
285025	CCDC141	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
285025	CCDC141	Decreased testicular size	HP:0008734
285025	CCDC141	Erectile abnormalities	HP:0100639
285025	CCDC141	Pes cavus	HP:0001761
285025	CCDC141	Seizures	HP:0001250
285025	CCDC141	Ataxia	HP:0001251
285025	CCDC141	Pes planus	HP:0001763
285025	CCDC141	Muscular hypotonia	HP:0001252
285025	CCDC141	Sparse axillary hair	HP:0002215
285025	CCDC141	Color vision defect	HP:0000551
285025	CCDC141	Renal agenesis	HP:0000104
285025	CCDC141	Obesity	HP:0001513
285025	CCDC141	Hypogonadotrophic hypogonadism	HP:0000044
285025	CCDC141	Dysarthria	HP:0001260
285025	CCDC141	Muscle weakness	HP:0001324
285025	CCDC141	Cleft palate	HP:0000175
285025	CCDC141	Sparse pubic hair	HP:0002225
285025	CCDC141	Breast hypoplasia	HP:0003187
285025	CCDC141	Micropenis	HP:0000054
285025	CCDC141	Paraplegia	HP:0010550
285025	CCDC141	Delayed puberty	HP:0000823
285025	CCDC141	Bimanual synkinesia	HP:0001335
285025	CCDC141	Tremor	HP:0001337
285025	CCDC141	Hyposmia	HP:0004409
285025	CCDC141	Visual impairment	HP:0000505
285025	CCDC141	Ptosis	HP:0000508
285025	CCDC141	Reduced bone mineral density	HP:0004349
285025	CCDC141	Delayed skeletal maturation	HP:0002750
285025	CCDC141	Anterior hypopituitarism	HP:0000830
285025	CCDC141	Nystagmus	HP:0000639
55654	TMEM127	Hypercalcemia	HP:0003072
55654	TMEM127	Vocal cord paralysis	HP:0001605
55654	TMEM127	Hypertensive retinopathy	HP:0001095
55654	TMEM127	Elevated calcitonin	HP:0003528
55654	TMEM127	Elevated urinary dopamine	HP:0011979
55654	TMEM127	Chest pain	HP:0100749
55654	TMEM127	Cranial nerve compression	HP:0001293
55654	TMEM127	Aniridia	HP:0000526
55654	TMEM127	Episodic abdominal pain	HP:0002574
55654	TMEM127	Renal cell carcinoma	HP:0005584
55654	TMEM127	Elevated urinary norepinephrine	HP:0003345
55654	TMEM127	Extraadrenal pheochromocytoma	HP:0006737
55654	TMEM127	Dysphonia	HP:0001618
55654	TMEM127	Pallor	HP:0000980
55654	TMEM127	Conductive hearing impairment	HP:0000405
55654	TMEM127	Hematuria	HP:0000790
55654	TMEM127	Fatigue	HP:0012378
55654	TMEM127	Recurrent paroxysmal headache	HP:0002331
55654	TMEM127	Adrenal pheochromocytoma	HP:0006748
55654	TMEM127	Proteinuria	HP:0000093
55654	TMEM127	Weight loss	HP:0001824
55654	TMEM127	Glomerulosclerosis	HP:0000096
55654	TMEM127	Nausea	HP:0002018
55654	TMEM127	Congestive heart failure	HP:0001635
55654	TMEM127	Paroxysmal vertigo	HP:0010532
55654	TMEM127	Episodic paroxysmal anxiety	HP:0000740
55654	TMEM127	Palpitations	HP:0001962
55654	TMEM127	Episodic hyperhidrosis	HP:0001069
55654	TMEM127	Retinal capillary hemangioma	HP:0009711
55654	TMEM127	Paraganglioma of head and neck	HP:0002864
55654	TMEM127	Flushing	HP:0031284
55654	TMEM127	Panic attack	HP:0025269
55654	TMEM127	Pulsatile tinnitus	HP:0008629
55654	TMEM127	Positive regitine blocking test	HP:0003574
55654	TMEM127	Sinus tachycardia	HP:0011703
55654	TMEM127	Elevated urinary epinephrine	HP:0003639
55654	TMEM127	Tremor	HP:0001337
55654	TMEM127	Cerebral hemorrhage	HP:0001342
55654	TMEM127	Arachnoid hemangiomatosis	HP:0012222
6505	SLC1A1	Intellectual disability	HP:0001249
6505	SLC1A1	Autosomal recessive inheritance	HP:0000007
6505	SLC1A1	Fasting hypoglycemia	HP:0003162
6505	SLC1A1	Aminoaciduria	HP:0003355
80232	WDR26	Absent speech	HP:0001344
80232	WDR26	Depressed nasal bridge	HP:0005280
80232	WDR26	Feeding difficulties	HP:0011968
80232	WDR26	Delayed ability to walk	HP:0031936
80232	WDR26	Intellectual disability	HP:0001249
80232	WDR26	Seizures	HP:0001250
80232	WDR26	Constipation	HP:0002019
80232	WDR26	Full cheeks	HP:0000293
80232	WDR26	Strabismus	HP:0000486
80232	WDR26	Amblyopia	HP:0000646
80232	WDR26	Ventriculomegaly	HP:0002119
80232	WDR26	Infantile onset	HP:0003593
80232	WDR26	Hyperplasia of the maxilla	HP:0430028
80232	WDR26	Anteverted nares	HP:0000463
80232	WDR26	Global developmental delay	HP:0001263
80232	WDR26	Spastic gait	HP:0002064
80232	WDR26	Happy demeanor	HP:0040082
80232	WDR26	Variable expressivity	HP:0003828
80232	WDR26	Thick upper lip vermilion	HP:0000215
80232	WDR26	Broad-based gait	HP:0002136
80232	WDR26	Coarse facial features	HP:0000280
80232	WDR26	Sparse lateral eyebrow	HP:0005338
80232	WDR26	Micrognathia	HP:0000347
80232	WDR26	Hypoplasia of the corpus callosum	HP:0002079
6506	SLC1A2	Autosomal dominant inheritance	HP:0000006
6506	SLC1A2	Optic atrophy	HP:0000648
6506	SLC1A2	Generalized hypotonia	HP:0001290
6506	SLC1A2	Cerebral atrophy	HP:0002059
6506	SLC1A2	Intellectual disability, profound	HP:0002187
6506	SLC1A2	Unsteady gait	HP:0002317
6506	SLC1A2	Rigidity	HP:0002063
6506	SLC1A2	Encephalopathy	HP:0001298
6506	SLC1A2	Decreased fetal movement	HP:0001558
6506	SLC1A2	Hypodontia	HP:0000668
6506	SLC1A2	Abnormal myelination	HP:0012447
6506	SLC1A2	Hypoplasia of the corpus callosum	HP:0002079
6506	SLC1A2	Retinal degeneration	HP:0000546
6506	SLC1A2	Neonatal onset	HP:0003623
6506	SLC1A2	Difficulty walking	HP:0002355
6506	SLC1A2	Dyskinesia	HP:0100660
6506	SLC1A2	Myoclonus	HP:0001336
6506	SLC1A2	Tremor	HP:0001337
6506	SLC1A2	Kyphoscoliosis	HP:0002751
6506	SLC1A2	Feeding difficulties	HP:0011968
6506	SLC1A2	Absent speech	HP:0001344
6506	SLC1A2	Epileptic encephalopathy	HP:0200134
6506	SLC1A2	Developmental regression	HP:0002376
6506	SLC1A2	Limb hypertonia	HP:0002509
6506	SLC1A2	Autism	HP:0000717
6506	SLC1A2	Status epilepticus	HP:0002133
6506	SLC1A2	Hypsarrhythmia	HP:0002521
6506	SLC1A2	Flexion contracture	HP:0001371
6506	SLC1A2	High forehead	HP:0000348
6506	SLC1A2	EEG with multifocal slow activity	HP:0010844
6506	SLC1A2	Intellectual disability	HP:0001249
6506	SLC1A2	Irritability	HP:0000737
6506	SLC1A2	Short stature	HP:0004322
6506	SLC1A2	Seizures	HP:0001250
6506	SLC1A2	Ataxia	HP:0001251
6506	SLC1A2	Gastroesophageal reflux	HP:0002020
6506	SLC1A2	Failure to thrive	HP:0001508
6506	SLC1A2	Lethargy	HP:0001254
6506	SLC1A2	Impulsivity	HP:0100710
6506	SLC1A2	Spasticity	HP:0001257
6506	SLC1A2	Attention deficit hyperactivity disorder	HP:0007018
6506	SLC1A2	Inability to walk	HP:0002540
6506	SLC1A2	Downslanted palpebral fissures	HP:0000494
6506	SLC1A2	Delayed speech and language development	HP:0000750
6506	SLC1A2	Global developmental delay	HP:0001263
6506	SLC1A2	Hyporeflexia	HP:0001265
6506	SLC1A2	Mental deterioration	HP:0001268
6506	SLC1A2	Poor head control	HP:0002421
6506	SLC1A2	Abnormality of vision	HP:0000504
6506	SLC1A2	Abnormal corpus callosum morphology	HP:0001273
6506	SLC1A2	Microcephaly	HP:0000252
6506	SLC1A2	Ptosis	HP:0000508
6506	SLC1A2	Nystagmus	HP:0000639
6507	SLC1A3	Gaze-evoked nystagmus	HP:0000640
6507	SLC1A3	Slurred speech	HP:0001350
6507	SLC1A3	Autosomal dominant inheritance	HP:0000006
6507	SLC1A3	Phonophobia	HP:0002183
6507	SLC1A3	Generalized hypotonia	HP:0001290
6507	SLC1A3	Diplopia	HP:0000651
6507	SLC1A3	Vertigo	HP:0002321
6507	SLC1A3	Episodic ataxia	HP:0002131
6507	SLC1A3	Migraine	HP:0002076
6507	SLC1A3	Vomiting	HP:0002013
6507	SLC1A3	Truncal ataxia	HP:0002078
6507	SLC1A3	Nausea and vomiting	HP:0002017
6507	SLC1A3	Seizures	HP:0001250
6507	SLC1A3	Nausea	HP:0002018
6507	SLC1A3	Ataxia	HP:0001251
6507	SLC1A3	Photophobia	HP:0000613
6507	SLC1A3	Cerebellar hypoplasia	HP:0001321
6507	SLC1A3	Dysarthria	HP:0001260
6507	SLC1A3	Reduced visual acuity	HP:0007663
6507	SLC1A3	Hemiparesis	HP:0001269
6507	SLC1A3	Motor delay	HP:0001270
6507	SLC1A3	Cerebellar atrophy	HP:0001272
6507	SLC1A3	Hypometric saccades	HP:0000571
6507	SLC1A3	Hemiplegia	HP:0002301
6507	SLC1A3	Nystagmus	HP:0000639
22891	ZNF365	Insomnia	HP:0100785
22891	ZNF365	Hallucinations	HP:0000738
22891	ZNF365	Transient global amnesia	HP:0010534
22891	ZNF365	Slurred speech	HP:0001350
22891	ZNF365	Abnormality of vision	HP:0000504
22891	ZNF365	Obesity	HP:0001513
22891	ZNF365	Cataplexy	HP:0002524
22891	ZNF365	Excessive daytime sleepiness	HP:0002189
22891	ZNF365	Abnormal rapid eye movement sleep	HP:0002494
22891	ZNF365	Excessive daytime somnolence	HP:0001262
22891	ZNF365	Syncope	HP:0001279
6509	SLC1A4	Absent speech	HP:0001344
6509	SLC1A4	Irritability	HP:0000737
6509	SLC1A4	Intellectual disability	HP:0001249
6509	SLC1A4	Seizures	HP:0001250
6509	SLC1A4	Hyperreflexia	HP:0001347
6509	SLC1A4	Autosomal recessive inheritance	HP:0000007
6509	SLC1A4	Generalized hypotonia	HP:0001290
6509	SLC1A4	Cerebral atrophy	HP:0002059
6509	SLC1A4	Inability to walk	HP:0002540
6509	SLC1A4	Spastic tetraplegia	HP:0002510
6509	SLC1A4	Global developmental delay	HP:0001263
6509	SLC1A4	Hyperactivity	HP:0000752
6509	SLC1A4	Congenital onset	HP:0003577
6509	SLC1A4	Progressive microcephaly	HP:0000253
6509	SLC1A4	Babinski sign	HP:0003487
6509	SLC1A4	Hypoplasia of the corpus callosum	HP:0002079
22897	CEP164	Seizures	HP:0001250
22897	CEP164	Retinal degeneration	HP:0000546
22897	CEP164	Short stature	HP:0004322
22897	CEP164	Ataxia	HP:0001251
22897	CEP164	Cataract	HP:0000518
22897	CEP164	Autosomal recessive inheritance	HP:0000007
22897	CEP164	Cerebellar vermis hypoplasia	HP:0001320
22897	CEP164	Obesity	HP:0001513
22897	CEP164	Polydactyly	HP:0010442
22897	CEP164	Blindness	HP:0000618
22897	CEP164	Retinal dystrophy	HP:0000556
22897	CEP164	Global developmental delay	HP:0001263
22897	CEP164	Premature ovarian insufficiency	HP:0008209
22897	CEP164	Progressive visual loss	HP:0000529
22897	CEP164	Cone-shaped epiphysis	HP:0010579
22897	CEP164	Congenital hepatic fibrosis	HP:0002612
22897	CEP164	Hypertension	HP:0000822
22897	CEP164	Hepatic failure	HP:0001399
22897	CEP164	Abnormality of retinal pigmentation	HP:0007703
22897	CEP164	Nephronophthisis	HP:0000090
22897	CEP164	Abnormality of bone mineral density	HP:0004348
22897	CEP164	Stage 5 chronic kidney disease	HP:0003774
22897	CEP164	Nystagmus	HP:0000639
6513	SLC2A1	Reticulocytosis	HP:0001923
6513	SLC2A1	Cataract	HP:0000518
6513	SLC2A1	Autosomal dominant inheritance	HP:0000006
6513	SLC2A1	Autosomal recessive inheritance	HP:0000007
6513	SLC2A1	Confusion	HP:0001289
6513	SLC2A1	Infantile onset	HP:0003593
6513	SLC2A1	Apraxia	HP:0002186
6513	SLC2A1	Headache	HP:0002315
6513	SLC2A1	Diplopia	HP:0000651
6513	SLC2A1	Cerebral atrophy	HP:0002059
6513	SLC2A1	Extrapyramidal dyskinesia	HP:0007308
6513	SLC2A1	Lower limb spasticity	HP:0002061
6513	SLC2A1	Paralysis	HP:0003470
6513	SLC2A1	Morphological abnormality of the pyramidal tract	HP:0002062
6513	SLC2A1	Hyperactive deep tendon reflexes	HP:0006801
6513	SLC2A1	Encephalopathy	HP:0001298
6513	SLC2A1	Abnormality of metabolism/homeostasis	HP:0001939
6513	SLC2A1	Generalized tonic-clonic seizures	HP:0002069
6513	SLC2A1	Paroxysmal involuntary eye movements	HP:0007704
6513	SLC2A1	Torsion dystonia	HP:0001304
6513	SLC2A1	Migraine	HP:0002076
6513	SLC2A1	Babinski sign	HP:0003487
6513	SLC2A1	Delayed myelination	HP:0012448
6513	SLC2A1	Specific learning disability	HP:0001328
6513	SLC2A1	EEG abnormality	HP:0002353
6513	SLC2A1	Dystonia	HP:0001332
6513	SLC2A1	Dyskinesia	HP:0100660
6513	SLC2A1	Central apnea	HP:0002871
6513	SLC2A1	Sleep disturbance	HP:0002360
6513	SLC2A1	Myoclonus	HP:0001336
6513	SLC2A1	Jaundice	HP:0000952
6513	SLC2A1	Tremor	HP:0001337
6513	SLC2A1	Cognitive impairment	HP:0100543
6513	SLC2A1	Hepatomegaly	HP:0002240
6513	SLC2A1	Absent speech	HP:0001344
6513	SLC2A1	Cyanosis	HP:0000961
6513	SLC2A1	Hyperreflexia	HP:0001347
6513	SLC2A1	Hypoglycorrhachia	HP:0011972
6513	SLC2A1	Paroxysmal lethargy	HP:0011973
6513	SLC2A1	Paresthesia	HP:0003401
6513	SLC2A1	Absence seizure	HP:0002121
6513	SLC2A1	Aggressive behavior	HP:0000718
6513	SLC2A1	Splenomegaly	HP:0001744
6513	SLC2A1	Episodic ataxia	HP:0002131
6513	SLC2A1	Status epilepticus	HP:0002133
6513	SLC2A1	Abnormal erythrocyte morphology	HP:0001877
6513	SLC2A1	Hemolytic anemia	HP:0001878
6513	SLC2A1	Abnormal pyramidal sign	HP:0007256
6513	SLC2A1	Paroxysmal dystonia	HP:0002268
6513	SLC2A1	Muscle stiffness	HP:0003552
6513	SLC2A1	Intellectual disability	HP:0001249
6513	SLC2A1	Irritability	HP:0000737
6513	SLC2A1	Seizures	HP:0001250
6513	SLC2A1	Short stature	HP:0004322
6513	SLC2A1	Ataxia	HP:0001251
6513	SLC2A1	Lethargy	HP:0001254
6513	SLC2A1	Strabismus	HP:0000486
6513	SLC2A1	Intellectual disability, mild	HP:0001256
6513	SLC2A1	Spasticity	HP:0001257
6513	SLC2A1	Hyperkalemia	HP:0002153
6513	SLC2A1	Spastic paraplegia	HP:0001258
6513	SLC2A1	Dysarthria	HP:0001260
6513	SLC2A1	Inability to walk	HP:0002540
6513	SLC2A1	Postnatal microcephaly	HP:0005484
6513	SLC2A1	Delayed speech and language development	HP:0000750
6513	SLC2A1	Global developmental delay	HP:0001263
6513	SLC2A1	Choreoathetosis	HP:0001266
6513	SLC2A1	Hemiparesis	HP:0001269
6513	SLC2A1	Incomplete penetrance	HP:0003829
6513	SLC2A1	Generalized hyperreflexia	HP:0007034
6513	SLC2A1	Microcephaly	HP:0000252
6513	SLC2A1	Progressive microcephaly	HP:0000253
6513	SLC2A1	Paroxysmal dyskinesia	HP:0007166
6513	SLC2A1	Nystagmus	HP:0000639
6514	SLC2A2	Failure to thrive	HP:0001508
6514	SLC2A2	Hypophosphatemia	HP:0002148
6514	SLC2A2	Glycosuria	HP:0003076
6514	SLC2A2	Hyperphosphaturia	HP:0003109
6514	SLC2A2	Abdominal distention	HP:0003270
6514	SLC2A2	Autosomal recessive inheritance	HP:0000007
6514	SLC2A2	Malabsorption	HP:0002024
6514	SLC2A2	Poor appetite	HP:0004396
6514	SLC2A2	Reduced subcutaneous adipose tissue	HP:0003758
6514	SLC2A2	Global developmental delay	HP:0001263
6514	SLC2A2	Hypouricemia	HP:0003537
6514	SLC2A2	Elevated alkaline phosphatase	HP:0003155
6514	SLC2A2	Impairment of galactose metabolism	HP:0004915
6514	SLC2A2	Hypokalemia	HP:0002900
6514	SLC2A2	Chronic acidosis	HP:0012468
6514	SLC2A2	Acidosis	HP:0001941
6514	SLC2A2	Renal tubular dysfunction	HP:0000124
6514	SLC2A2	Generalized aminoaciduria	HP:0002909
6514	SLC2A2	Osteomalacia	HP:0002749
6515	SLC2A3	EEG abnormality	HP:0002353
6515	SLC2A3	Behavioral abnormality	HP:0000708
6515	SLC2A3	Dementia	HP:0000726
6515	SLC2A3	Abnormality of movement	HP:0100022
6515	SLC2A3	Cerebral cortical atrophy	HP:0002120
6515	SLC2A3	Abnormality of the voice	HP:0001608
6515	SLC2A3	Developmental regression	HP:0002376
6515	SLC2A3	Spasticity	HP:0001257
22901	ARSG	Abnormal electroretinogram	HP:0000512
22901	ARSG	Hallucinations	HP:0000738
22901	ARSG	Astigmatism	HP:0000483
22901	ARSG	Ataxia	HP:0001251
22901	ARSG	Anxiety	HP:0000739
22901	ARSG	Cataract	HP:0000518
22901	ARSG	Depressivity	HP:0000716
22901	ARSG	Schizophrenia	HP:0100753
22901	ARSG	Iris hypopigmentation	HP:0007730
22901	ARSG	High hypermetropia	HP:0008499
22901	ARSG	Nyctalopia	HP:0000662
22901	ARSG	Sensorineural hearing impairment	HP:0000407
22901	ARSG	Abnormal cochlea morphology	HP:0000375
22901	ARSG	Progressive sensorineural hearing impairment	HP:0000408
22901	ARSG	Hemianopia	HP:0012377
22901	ARSG	Vestibular hypofunction	HP:0001756
22901	ARSG	Visual loss	HP:0000572
22901	ARSG	Scotoma	HP:0000575
55670	PEX26	Macrocephaly	HP:0000256
55670	PEX26	Ichthyosis	HP:0008064
55670	PEX26	Decreased liver function	HP:0001410
55670	PEX26	Multicystic kidney dysplasia	HP:0000003
55670	PEX26	Wide anterior fontanel	HP:0000260
55670	PEX26	Facial palsy	HP:0010628
55670	PEX26	Cataract	HP:0000518
55670	PEX26	Autosomal recessive inheritance	HP:0000007
55670	PEX26	Optic atrophy	HP:0000648
55670	PEX26	Abnormality of coagulation	HP:0001928
55670	PEX26	Dolichocephaly	HP:0000268
55670	PEX26	Primary adrenal insufficiency	HP:0008207
55670	PEX26	Abnormality of metabolism/homeostasis	HP:0001939
55670	PEX26	Abnormal chorioretinal morphology	HP:0000532
55670	PEX26	Corneal opacity	HP:0007957
55670	PEX26	Nyctalopia	HP:0000662
55670	PEX26	Sensorineural hearing impairment	HP:0000407
55670	PEX26	Abnormality of retinal pigmentation	HP:0007703
55670	PEX26	Arrhythmia	HP:0011675
55670	PEX26	Cryptorchidism	HP:0000028
55670	PEX26	Abnormality of the tongue	HP:0000157
55670	PEX26	Epicanthus	HP:0000286
55670	PEX26	Epiphyseal stippling	HP:0010655
55670	PEX26	Depressed nasal bridge	HP:0005280
55670	PEX26	Underdeveloped supraorbital ridges	HP:0009891
55670	PEX26	Reduced tendon reflexes	HP:0001315
55670	PEX26	Neonatal hypotonia	HP:0001319
55670	PEX26	Feeding difficulties in infancy	HP:0008872
55670	PEX26	Abnormality of epiphysis morphology	HP:0005930
55670	PEX26	Retinal dystrophy	HP:0000556
55670	PEX26	Respiratory insufficiency	HP:0002093
55670	PEX26	Severe muscular hypotonia	HP:0006829
55670	PEX26	Abnormal palate morphology	HP:0000174
55670	PEX26	Bilateral single transverse palmar creases	HP:0007598
55670	PEX26	Hypospadias	HP:0000047
55670	PEX26	Wide nasal bridge	HP:0000431
55670	PEX26	EEG abnormality	HP:0002353
55670	PEX26	Jaundice	HP:0000952
55670	PEX26	Cognitive impairment	HP:0100543
55670	PEX26	Profound global developmental delay	HP:0012736
55670	PEX26	Brushfield spots	HP:0001088
55670	PEX26	Hepatomegaly	HP:0002240
55670	PEX26	Feeding difficulties	HP:0011968
55670	PEX26	Hyperreflexia	HP:0001347
55670	PEX26	Behavioral abnormality	HP:0000708
55670	PEX26	Upslanted palpebral fissure	HP:0000582
55670	PEX26	Developmental regression	HP:0002376
55670	PEX26	Elevated levels of phytanic acid	HP:0010571
55670	PEX26	Polymicrogyria	HP:0002126
55670	PEX26	Anteverted nares	HP:0000463
55670	PEX26	Flat face	HP:0012368
55670	PEX26	Severe global developmental delay	HP:0011344
55670	PEX26	Premature birth	HP:0001622
55670	PEX26	Long philtrum	HP:0000343
55670	PEX26	Clitoral hypertrophy	HP:0008665
55670	PEX26	Thickened nuchal skin fold	HP:0000474
55670	PEX26	High palate	HP:0000218
55670	PEX26	Micrognathia	HP:0000347
55670	PEX26	Skeletal dysplasia	HP:0002652
55670	PEX26	High forehead	HP:0000348
55670	PEX26	Ventricular septal defect	HP:0001629
55670	PEX26	Flat occiput	HP:0005469
55670	PEX26	Abnormality of neuronal migration	HP:0002269
55670	PEX26	Seizures	HP:0001250
55670	PEX26	Short stature	HP:0004322
55670	PEX26	Talipes equinovarus	HP:0001762
55670	PEX26	Ataxia	HP:0001251
55670	PEX26	Failure to thrive	HP:0001508
55670	PEX26	Muscular hypotonia	HP:0001252
55670	PEX26	Pyloric stenosis	HP:0002021
55670	PEX26	Cardiomyopathy	HP:0001638
55670	PEX26	Posteriorly rotated ears	HP:0000358
55670	PEX26	Strabismus	HP:0000486
55670	PEX26	Very long chain fatty acid accumulation	HP:0008167
55670	PEX26	Generalized neonatal hypotonia	HP:0008935
55670	PEX26	Malabsorption	HP:0002024
55670	PEX26	Spasticity	HP:0001257
55670	PEX26	Constriction of peripheral visual field	HP:0001133
55670	PEX26	Global developmental delay	HP:0001263
55670	PEX26	Low-set, posteriorly rotated ears	HP:0000368
55670	PEX26	Abnormality of the liver	HP:0001392
55670	PEX26	Low-set ears	HP:0000369
55670	PEX26	Death in infancy	HP:0001522
55670	PEX26	Posterior embryotoxon	HP:0000627
55670	PEX26	Glaucoma	HP:0000501
55670	PEX26	Hepatic failure	HP:0001399
55670	PEX26	Visual impairment	HP:0000505
55670	PEX26	Progressive muscle weakness	HP:0003323
55670	PEX26	External ear malformation	HP:0008572
55670	PEX26	Microcephaly	HP:0000252
55670	PEX26	Ptosis	HP:0000508
55670	PEX26	Hydronephrosis	HP:0000126
55670	PEX26	Rod-cone dystrophy	HP:0000510
55670	PEX26	Nystagmus	HP:0000639
6519	SLC3A1	Abnormality of the nervous system	HP:0000707
6519	SLC3A1	Argininuria	HP:0003268
6519	SLC3A1	Autosomal dominant inheritance	HP:0000006
6519	SLC3A1	Hypogonadism	HP:0000135
6519	SLC3A1	Autosomal recessive inheritance	HP:0000007
6519	SLC3A1	Recurrent urinary tract infections	HP:0000010
6519	SLC3A1	Nasal speech	HP:0001611
6519	SLC3A1	Ornithinuria	HP:0003532
6519	SLC3A1	Dolichocephaly	HP:0000268
6519	SLC3A1	Long eyelashes	HP:0000527
6519	SLC3A1	Nephrolithiasis	HP:0000787
6519	SLC3A1	Renal insufficiency	HP:0000083
6519	SLC3A1	Hypocalcemia	HP:0002901
6519	SLC3A1	Decreased fetal movement	HP:0001558
6519	SLC3A1	Retrognathia	HP:0000278
6519	SLC3A1	Hypoglycemia	HP:0001943
6519	SLC3A1	Frontal bossing	HP:0002007
6519	SLC3A1	Fatigue	HP:0012378
6519	SLC3A1	Epicanthus	HP:0000286
6519	SLC3A1	Polyphagia	HP:0002591
6519	SLC3A1	Depressed nasal bridge	HP:0005280
6519	SLC3A1	Hyperlysinuria	HP:0003297
6519	SLC3A1	Seizures	HP:0001250
6519	SLC3A1	Failure to thrive	HP:0001508
6519	SLC3A1	Muscular hypotonia	HP:0001252
6519	SLC3A1	Intellectual disability, moderate	HP:0002342
6519	SLC3A1	Growth delay	HP:0001510
6519	SLC3A1	Global developmental delay	HP:0001263
6519	SLC3A1	Low-set, posteriorly rotated ears	HP:0000368
6519	SLC3A1	Variable expressivity	HP:0003828
6519	SLC3A1	Lactic acidosis	HP:0003128
6519	SLC3A1	Cystinuria	HP:0003131
6519	SLC3A1	Ptosis	HP:0000508
6519	SLC3A1	Mitochondrial respiratory chain defects	HP:0200125
6521	SLC4A1	Postnatal growth retardation	HP:0008897
6521	SLC4A1	Reticulocytosis	HP:0001923
6521	SLC4A1	Pathologic fracture	HP:0002756
6521	SLC4A1	Autosomal dominant inheritance	HP:0000006
6521	SLC4A1	Autosomal recessive inheritance	HP:0000007
6521	SLC4A1	Splenomegaly	HP:0001744
6521	SLC4A1	Abnormality of metabolism/homeostasis	HP:0001939
6521	SLC4A1	Hypokalemia	HP:0002900
6521	SLC4A1	Pallor	HP:0000980
6521	SLC4A1	Isothenuria	HP:0030036
6521	SLC4A1	Distal renal tubular acidosis	HP:0008341
6521	SLC4A1	Hypocalcemia	HP:0002901
6521	SLC4A1	Hemolytic anemia	HP:0001878
6521	SLC4A1	Metabolic acidosis	HP:0001942
6521	SLC4A1	Hyperbilirubinemia	HP:0002904
6521	SLC4A1	Hepatosplenomegaly	HP:0001433
6521	SLC4A1	Periodic hypokalemic paresis	HP:0008153
6521	SLC4A1	Renal tubular acidosis	HP:0001947
6521	SLC4A1	Spherocytosis	HP:0004444
6521	SLC4A1	Elliptocytosis	HP:0004445
6521	SLC4A1	Stomatocytosis	HP:0004446
6521	SLC4A1	Short stature	HP:0004322
6521	SLC4A1	Failure to thrive	HP:0001508
6521	SLC4A1	Lethargy	HP:0001254
6521	SLC4A1	Decreased mean corpuscular volume	HP:0025066
6521	SLC4A1	Muscle weakness	HP:0001324
6521	SLC4A1	Hyperchloremic metabolic acidosis	HP:0004918
6521	SLC4A1	Anorexia	HP:0002039
6521	SLC4A1	Jaundice	HP:0000952
6521	SLC4A1	Periodic paralysis	HP:0003768
6521	SLC4A1	Nephrocalcinosis	HP:0000121
6521	SLC4A1	Rickets	HP:0002748
6521	SLC4A1	Osteomalacia	HP:0002749
6521	SLC4A1	Increased red cell osmotic fragility	HP:0005502
22906	TRAK1	Feeding difficulties	HP:0011968
22906	TRAK1	Optic atrophy	HP:0000648
22906	TRAK1	Developmental regression	HP:0002376
22906	TRAK1	Cerebral cortical atrophy	HP:0002120
22906	TRAK1	Generalized hypotonia	HP:0001290
22906	TRAK1	Cerebral atrophy	HP:0002059
22906	TRAK1	Limb hypertonia	HP:0002509
22906	TRAK1	Autism	HP:0000717
22906	TRAK1	Unsteady gait	HP:0002317
22906	TRAK1	Rigidity	HP:0002063
22906	TRAK1	Encephalopathy	HP:0001298
22906	TRAK1	Status epilepticus	HP:0002133
22906	TRAK1	Decreased fetal movement	HP:0001558
22906	TRAK1	Hypsarrhythmia	HP:0002521
22906	TRAK1	Exaggerated startle response	HP:0002267
22906	TRAK1	High forehead	HP:0000348
22906	TRAK1	EEG with multifocal slow activity	HP:0010844
22906	TRAK1	Hypodontia	HP:0000668
22906	TRAK1	Progressive	HP:0003676
22906	TRAK1	Abnormal myelination	HP:0012447
22906	TRAK1	Intellectual disability	HP:0001249
22906	TRAK1	Short stature	HP:0004322
22906	TRAK1	Retinal degeneration	HP:0000546
22906	TRAK1	Ataxia	HP:0001251
22906	TRAK1	Gastroesophageal reflux	HP:0002020
22906	TRAK1	Failure to thrive	HP:0001508
22906	TRAK1	Impulsivity	HP:0100710
22906	TRAK1	Spasticity	HP:0001257
22906	TRAK1	Attention deficit hyperactivity disorder	HP:0007018
22906	TRAK1	Downslanted palpebral fissures	HP:0000494
22906	TRAK1	Delayed speech and language development	HP:0000750
22906	TRAK1	Global developmental delay	HP:0001263
22906	TRAK1	Hyporeflexia	HP:0001265
22906	TRAK1	Muscle fibrillation	HP:0010546
22906	TRAK1	Difficulty walking	HP:0002355
22906	TRAK1	Mental deterioration	HP:0001268
22906	TRAK1	Poor head control	HP:0002421
22906	TRAK1	Dyskinesia	HP:0100660
22906	TRAK1	Myoclonus	HP:0001336
22906	TRAK1	Abnormality of vision	HP:0000504
22906	TRAK1	Tremor	HP:0001337
22906	TRAK1	Abnormal corpus callosum morphology	HP:0001273
22906	TRAK1	Clonus	HP:0002169
22906	TRAK1	Microcephaly	HP:0000252
22906	TRAK1	Ptosis	HP:0000508
22906	TRAK1	Nystagmus	HP:0000639
6523	SLC5A1	Hypertonic dehydration	HP:0001986
6523	SLC5A1	Failure to thrive	HP:0001508
6523	SLC5A1	Glycosuria	HP:0003076
6523	SLC5A1	Abdominal distention	HP:0003270
6523	SLC5A1	Metabolic acidosis	HP:0001942
6523	SLC5A1	Autosomal recessive inheritance	HP:0000007
6523	SLC5A1	Malabsorption	HP:0002024
6523	SLC5A1	Chronic diarrhea	HP:0002028
6523	SLC5A1	Abnormal oral glucose tolerance	HP:0004924
6523	SLC5A1	Hyperactive bowel sounds	HP:0030143
22907	DHX30	Delayed myelination	HP:0012448
22907	DHX30	Delayed ability to walk	HP:0031936
22907	DHX30	Absent speech	HP:0001344
22907	DHX30	Intellectual disability	HP:0001249
22907	DHX30	Seizures	HP:0001250
22907	DHX30	Ataxia	HP:0001251
22907	DHX30	Strabismus	HP:0000486
22907	DHX30	Ventriculomegaly	HP:0002119
22907	DHX30	Everted lower lip vermilion	HP:0000232
22907	DHX30	Infantile onset	HP:0003593
22907	DHX30	Cerebral atrophy	HP:0002059
22907	DHX30	Inability to walk	HP:0002540
22907	DHX30	Global developmental delay	HP:0001263
22907	DHX30	Abnormal facial shape	HP:0001999
22907	DHX30	Bruxism	HP:0003763
22907	DHX30	Dystonia	HP:0001332
22907	DHX30	Synophrys	HP:0000664
22907	DHX30	Chorea	HP:0002072
22907	DHX30	Cerebellar atrophy	HP:0001272
22907	DHX30	High palate	HP:0000218
22907	DHX30	Epicanthus	HP:0000286
6524	SLC5A2	Variable expressivity	HP:0003828
6524	SLC5A2	Glycosuria	HP:0003076
6524	SLC5A2	Enuresis nocturna	HP:0010677
6524	SLC5A2	Autosomal dominant inheritance	HP:0000006
6524	SLC5A2	Polyuria	HP:0000103
6524	SLC5A2	Autosomal recessive inheritance	HP:0000007
6524	SLC5A2	Polydipsia	HP:0001959
6524	SLC5A2	Polyphagia	HP:0002591
22909	FAN1	Glycosuria	HP:0003076
22909	FAN1	Death in early adulthood	HP:0100613
22909	FAN1	Ovarian neoplasm	HP:0100615
22909	FAN1	Neoplasm of the rectum	HP:0100743
22909	FAN1	Autosomal recessive inheritance	HP:0000007
22909	FAN1	Gait disturbance	HP:0001288
22909	FAN1	Glioblastoma multiforme	HP:0012174
22909	FAN1	Hematuria	HP:0000790
22909	FAN1	Hemiplegia/hemiparesis	HP:0004374
22909	FAN1	Agnosia	HP:0010524
22909	FAN1	Migraine	HP:0002076
22909	FAN1	Dysgraphia	HP:0010526
22909	FAN1	Weight loss	HP:0001824
22909	FAN1	Urinary tract neoplasm	HP:0010786
22909	FAN1	Tubulointerstitial nephritis	HP:0001970
22909	FAN1	Memory impairment	HP:0002354
22909	FAN1	Dyskinesia	HP:0100660
22909	FAN1	Elevated serum creatinine	HP:0003259
22909	FAN1	Colon cancer	HP:0003003
22909	FAN1	Stage 5 chronic kidney disease	HP:0003774
22909	FAN1	Neuroblastoma	HP:0003006
22909	FAN1	Neoplasm of the thyroid gland	HP:0100031
22909	FAN1	Gastrointestinal hemorrhage	HP:0002239
22909	FAN1	Increased blood urea nitrogen	HP:0003138
22909	FAN1	Pancreatic adenocarcinoma	HP:0006725
22909	FAN1	Developmental regression	HP:0002376
22909	FAN1	Paresthesia	HP:0003401
22909	FAN1	Intestinal polyposis	HP:0200008
22909	FAN1	Depressivity	HP:0000716
22909	FAN1	Pituitary adenoma	HP:0002893
22909	FAN1	Increased intracranial pressure	HP:0002516
22909	FAN1	Abnormal pyramidal sign	HP:0007256
22909	FAN1	Nephronophthisis	HP:0000090
22909	FAN1	Cardiac diverticulum	HP:0100571
22909	FAN1	Fatigue	HP:0012378
22909	FAN1	Flexion contracture	HP:0001371
22909	FAN1	Progressive	HP:0003676
22909	FAN1	Proteinuria	HP:0000093
22909	FAN1	Elevated hepatic transaminase	HP:0002910
22909	FAN1	Nausea and vomiting	HP:0002017
22909	FAN1	Irritability	HP:0000737
22909	FAN1	Amaurosis fugax	HP:0100576
22909	FAN1	Hallucinations	HP:0000738
22909	FAN1	Seizures	HP:0001250
22909	FAN1	Benign neoplasm of the central nervous system	HP:0100835
22909	FAN1	Visual field defect	HP:0001123
22909	FAN1	Anxiety	HP:0000739
22909	FAN1	Constipation	HP:0002019
22909	FAN1	Muscular hypotonia	HP:0001252
22909	FAN1	Malabsorption	HP:0002024
22909	FAN1	Attention deficit hyperactivity disorder	HP:0007018
22909	FAN1	Abdominal pain	HP:0002027
22909	FAN1	Dysarthria	HP:0001260
22909	FAN1	Basal cell carcinoma	HP:0002671
22909	FAN1	Death in infancy	HP:0001522
22909	FAN1	Hepatocellular carcinoma	HP:0001402
22909	FAN1	Hypertonia	HP:0001276
22909	FAN1	Neoplasm of the skeletal system	HP:0010622
55679	LIMS2	Increased connective tissue	HP:0009025
55679	LIMS2	Tetraparesis	HP:0002273
55679	LIMS2	Talipes equinovarus	HP:0001762
55679	LIMS2	Skeletal muscle atrophy	HP:0003202
55679	LIMS2	Elevated serum creatine kinase	HP:0003236
55679	LIMS2	Autosomal recessive inheritance	HP:0000007
55679	LIMS2	Childhood onset	HP:0011463
55679	LIMS2	Muscular dystrophy	HP:0003560
55679	LIMS2	Muscle weakness	HP:0001324
55679	LIMS2	Triangular tongue	HP:0030284
55679	LIMS2	Dilated cardiomyopathy	HP:0001644
55679	LIMS2	Reduced systolic function	HP:0006673
55679	LIMS2	Calf muscle hypertrophy	HP:0008981
55679	LIMS2	Progressive	HP:0003676
80254	CEP63	Intellectual disability	HP:0001249
80254	CEP63	Short stature	HP:0004322
80254	CEP63	Hyperreflexia	HP:0001347
80254	CEP63	Hypoplasia of the frontal lobes	HP:0007333
80254	CEP63	Upslanted palpebral fissure	HP:0000582
80254	CEP63	Ventriculomegaly	HP:0002119
80254	CEP63	Autosomal recessive inheritance	HP:0000007
80254	CEP63	Gray matter heterotopia	HP:0002282
80254	CEP63	Vesicoureteral reflux	HP:0000076
80254	CEP63	Delayed speech and language development	HP:0000750
80254	CEP63	Global developmental delay	HP:0001263
80254	CEP63	Intellectual disability, severe	HP:0010864
80254	CEP63	Sloping forehead	HP:0000340
80254	CEP63	Pachygyria	HP:0001302
80254	CEP63	Unilateral renal agenesis	HP:0000122
80254	CEP63	Agenesis of corpus callosum	HP:0001274
80254	CEP63	Thin upper lip vermilion	HP:0000219
80254	CEP63	Microcephaly	HP:0000252
80254	CEP63	Abnormal cortical bone morphology	HP:0003103
121214	SDR9C7	Ichthyosis	HP:0008064
121214	SDR9C7	Hyperkeratosis	HP:0000962
121214	SDR9C7	Chronic otitis media	HP:0000389
121214	SDR9C7	Lack of skin elasticity	HP:0100679
121214	SDR9C7	Sparse hair	HP:0008070
121214	SDR9C7	Sepsis	HP:0100806
121214	SDR9C7	Autosomal recessive inheritance	HP:0000007
121214	SDR9C7	Palmoplantar hyperkeratosis	HP:0000972
121214	SDR9C7	Ectropion	HP:0000656
121214	SDR9C7	Renal insufficiency	HP:0000083
121214	SDR9C7	Gangrene	HP:0100758
121214	SDR9C7	Dehydration	HP:0001944
121214	SDR9C7	Hypergranulosis	HP:0025114
121214	SDR9C7	Pruritus	HP:0000989
121214	SDR9C7	Recurrent respiratory infections	HP:0002205
121214	SDR9C7	Abnormality of the helix	HP:0011039
121214	SDR9C7	Short stature	HP:0004322
121214	SDR9C7	Abnormality of the dentition	HP:0000164
121214	SDR9C7	Everted lower lip vermilion	HP:0000232
121214	SDR9C7	Aplasia/Hypoplasia of the eyebrow	HP:0100840
121214	SDR9C7	Hypotrichosis	HP:0001006
121214	SDR9C7	Erythroderma	HP:0001019
121214	SDR9C7	Abnormality of the nail	HP:0001597
121214	SDR9C7	Dry skin	HP:0000958
121214	SDR9C7	Cognitive impairment	HP:0100543
6528	SLC5A5	Umbilical hernia	HP:0001537
6528	SLC5A5	Intellectual disability	HP:0001249
6528	SLC5A5	Short stature	HP:0004322
6528	SLC5A5	Constipation	HP:0002019
6528	SLC5A5	Muscular hypotonia	HP:0001252
6528	SLC5A5	Lethargy	HP:0001254
6528	SLC5A5	Growth delay	HP:0001510
6528	SLC5A5	Abdominal distention	HP:0003270
6528	SLC5A5	Autosomal recessive inheritance	HP:0000007
6528	SLC5A5	Large fontanelles	HP:0000239
6528	SLC5A5	Global developmental delay	HP:0001263
6528	SLC5A5	Hypersomnia	HP:0100786
6528	SLC5A5	Hypothyroidism	HP:0000821
6528	SLC5A5	Goiter	HP:0000853
6528	SLC5A5	Coarse facial features	HP:0000280
6528	SLC5A5	Jaundice	HP:0000952
6528	SLC5A5	Fatigue	HP:0012378
6528	SLC5A5	Dry skin	HP:0000958
6528	SLC5A5	Macroglossia	HP:0000158
6529	SLC6A1	EEG with spike-wave complexes (>3.5 Hz)	HP:0010849
6529	SLC6A1	Intellectual disability	HP:0001249
6529	SLC6A1	Myoclonic atonic seizures	HP:0011170
6529	SLC6A1	EEG with abnormally slow frequencies	HP:0011203
6529	SLC6A1	Ataxia	HP:0001251
6529	SLC6A1	Atonic seizures	HP:0010819
6529	SLC6A1	Febrile seizures	HP:0002373
6529	SLC6A1	Epileptic encephalopathy	HP:0200134
6529	SLC6A1	Autosomal dominant inheritance	HP:0000006
6529	SLC6A1	Impulsivity	HP:0100710
6529	SLC6A1	Photosensitive tonic-clonic seizures	HP:0007207
6529	SLC6A1	Developmental regression	HP:0002376
6529	SLC6A1	Absence seizure	HP:0002121
6529	SLC6A1	Eyelid myoclonus	HP:0025097
6529	SLC6A1	Dysarthria	HP:0001260
6529	SLC6A1	Aggressive behavior	HP:0000718
6529	SLC6A1	Global developmental delay	HP:0001263
6529	SLC6A1	Abnormal brain FDG positron emission tomography	HP:0012658
6529	SLC6A1	Mental deterioration	HP:0001268
6529	SLC6A1	Status epilepticus	HP:0002133
6529	SLC6A1	Myoclonus	HP:0001336
6529	SLC6A1	Autistic behavior	HP:0000729
6529	SLC6A1	Tremor	HP:0001337
6529	SLC6A1	Scoliosis	HP:0002650
6530	SLC6A2	Autosomal dominant inheritance	HP:0000006
6530	SLC6A2	Orthostatic tachycardia	HP:0012173
6531	SLC6A3	Feeding difficulties	HP:0011968
6531	SLC6A3	Absent speech	HP:0001344
6531	SLC6A3	Abnormal circulating carboxylic acid concentration	HP:0004354
6531	SLC6A3	Orofacial dyskinesia	HP:0002310
6531	SLC6A3	Hypokinesia	HP:0002375
6531	SLC6A3	Autosomal recessive inheritance	HP:0000007
6531	SLC6A3	Infantile onset	HP:0003593
6531	SLC6A3	Limb hypertonia	HP:0002509
6531	SLC6A3	Morphological abnormality of the pyramidal tract	HP:0002062
6531	SLC6A3	Rigidity	HP:0002063
6531	SLC6A3	Hypomimic face	HP:0000338
6531	SLC6A3	Delayed gross motor development	HP:0002194
6531	SLC6A3	Bradykinesia	HP:0002067
6531	SLC6A3	Limb dystonia	HP:0002451
6531	SLC6A3	Parkinsonism	HP:0001300
6531	SLC6A3	Abnormal pyramidal sign	HP:0007256
6531	SLC6A3	Chorea	HP:0002072
6531	SLC6A3	Progressive	HP:0003676
6531	SLC6A3	Irritability	HP:0000737
6531	SLC6A3	Constipation	HP:0002019
6531	SLC6A3	Gastroesophageal reflux	HP:0002020
6531	SLC6A3	Muscular hypotonia of the trunk	HP:0008936
6531	SLC6A3	Global developmental delay	HP:0001263
6531	SLC6A3	Cerebral palsy	HP:0100021
6531	SLC6A3	Dyskinesia	HP:0100660
6531	SLC6A3	Oculogyric crisis	HP:0010553
6531	SLC6A3	Tremor	HP:0001337
6531	SLC6A3	Ocular flutter	HP:0031931
6531	SLC6A3	Hypertonia	HP:0001276
22917	ZP1	Infertility	HP:0000789
22917	ZP1	Autosomal recessive inheritance	HP:0000007
55687	TRMU	Hepatomegaly	HP:0002240
55687	TRMU	Ragged-red muscle fibers	HP:0003200
55687	TRMU	Microvesicular hepatic steatosis	HP:0001414
55687	TRMU	Abdominal distention	HP:0003270
55687	TRMU	Aminoglycoside-induced hearing loss	HP:0011975
55687	TRMU	Autosomal recessive inheritance	HP:0000007
55687	TRMU	Generalized hypotonia	HP:0001290
55687	TRMU	Nasogastric tube feeding in infancy	HP:0011470
55687	TRMU	Delayed gross motor development	HP:0002194
55687	TRMU	Mitochondrial inheritance	HP:0001427
55687	TRMU	Decreased activity of mitochondrial complex I	HP:0011923
55687	TRMU	Hyperbilirubinemia	HP:0002904
55687	TRMU	Abnormality of the cardiovascular system	HP:0001626
55687	TRMU	High palate	HP:0000218
55687	TRMU	Acute hepatic failure	HP:0006554
55687	TRMU	Increased muscle glycogen content	HP:0009051
55687	TRMU	Vomiting	HP:0002013
55687	TRMU	Macroglossia	HP:0000158
55687	TRMU	Elevated hepatic transaminase	HP:0002910
55687	TRMU	Increased muscle lipid content	HP:0009058
55687	TRMU	Decreased plasma carnitine	HP:0003234
55687	TRMU	Severe lactic acidosis	HP:0004900
55687	TRMU	Increased serum lactate	HP:0002151
55687	TRMU	Cytochrome C oxidase-negative muscle fibers	HP:0003688
55687	TRMU	Feeding difficulties in infancy	HP:0008872
55687	TRMU	Muscle weakness	HP:0001324
55687	TRMU	Hyporeflexia	HP:0001265
55687	TRMU	Poor suck	HP:0002033
55687	TRMU	Respiratory distress	HP:0002098
55687	TRMU	Mildly elevated creatine kinase	HP:0008180
55687	TRMU	Abnormality of the coagulation cascade	HP:0003256
55687	TRMU	Jaundice	HP:0000952
55687	TRMU	Lactic acidosis	HP:0003128
55687	TRMU	Ventilator dependence with inability to wean	HP:0005946
55687	TRMU	Macrovesicular hepatic steatosis	HP:0001403
55687	TRMU	Myopathy	HP:0003198
55687	TRMU	Mitochondrial respiratory chain defects	HP:0200125
6535	SLC6A8	Athetosis	HP:0002305
6535	SLC6A8	Underfolded superior helices	HP:0008583
6535	SLC6A8	Gait disturbance	HP:0001288
6535	SLC6A8	Infantile onset	HP:0003593
6535	SLC6A8	Myopathic facies	HP:0002058
6535	SLC6A8	Generalized hypotonia	HP:0001290
6535	SLC6A8	X-linked recessive inheritance	HP:0001419
6535	SLC6A8	Malar flattening	HP:0000272
6535	SLC6A8	Poor hand-eye coordination	HP:0007057
6535	SLC6A8	Abnormality of metabolism/homeostasis	HP:0001939
6535	SLC6A8	Narrow face	HP:0000275
6535	SLC6A8	Long face	HP:0000276
6535	SLC6A8	Midface retrusion	HP:0011800
6535	SLC6A8	Chorea	HP:0002072
6535	SLC6A8	Hypermetropia	HP:0000540
6535	SLC6A8	Hypoplasia of the corpus callosum	HP:0002079
6535	SLC6A8	Delayed myelination	HP:0012448
6535	SLC6A8	Ileus	HP:0002595
6535	SLC6A8	Neonatal hypotonia	HP:0001319
6535	SLC6A8	Feeding difficulties in infancy	HP:0008872
6535	SLC6A8	Mask-like facies	HP:0000298
6535	SLC6A8	Redundant skin	HP:0001582
6535	SLC6A8	Mandibular prognathia	HP:0000303
6535	SLC6A8	Dystonia	HP:0001332
6535	SLC6A8	Joint hyperflexibility	HP:0005692
6535	SLC6A8	Exotropia	HP:0000577
6535	SLC6A8	Open mouth	HP:0000194
6535	SLC6A8	Aganglionic megacolon	HP:0002251
6535	SLC6A8	Aggressive behavior	HP:0000718
6535	SLC6A8	Broad forehead	HP:0000337
6535	SLC6A8	Abnormal circulating creatine concentration	HP:0012113
6535	SLC6A8	Autistic behavior	HP:0000729
6535	SLC6A8	Reduced brain creatine level by MRS	HP:0025051
6535	SLC6A8	Vomiting	HP:0002013
6535	SLC6A8	Stereotypy	HP:0000733
6535	SLC6A8	Impaired social interactions	HP:0000735
6535	SLC6A8	Intellectual disability	HP:0001249
6535	SLC6A8	Pes cavus	HP:0001761
6535	SLC6A8	Tall stature	HP:0000098
6535	SLC6A8	Seizures	HP:0001250
6535	SLC6A8	Short stature	HP:0004322
6535	SLC6A8	Constipation	HP:0002019
6535	SLC6A8	Ataxia	HP:0001251
6535	SLC6A8	Failure to thrive	HP:0001508
6535	SLC6A8	Muscular hypotonia	HP:0001252
6535	SLC6A8	Joint hypermobility	HP:0001382
6535	SLC6A8	Cachexia	HP:0004326
6535	SLC6A8	Self-mutilation	HP:0000742
6535	SLC6A8	Spasticity	HP:0001257
6535	SLC6A8	Attention deficit hyperactivity disorder	HP:0007018
6535	SLC6A8	Delayed speech and language development	HP:0000750
6535	SLC6A8	Global developmental delay	HP:0001263
6535	SLC6A8	Hyperactivity	HP:0000752
6535	SLC6A8	Motor delay	HP:0001270
6535	SLC6A8	Microcephaly	HP:0000252
6535	SLC6A8	Ptosis	HP:0000508
6535	SLC6A8	Hypertonia	HP:0001276
6536	SLC6A9	Genu recurvatum	HP:0002816
6536	SLC6A9	Ventriculomegaly	HP:0002119
6536	SLC6A9	Autosomal recessive inheritance	HP:0000007
6536	SLC6A9	Optic atrophy	HP:0000648
6536	SLC6A9	Hip contracture	HP:0003273
6536	SLC6A9	Myopathic facies	HP:0002058
6536	SLC6A9	Hip dislocation	HP:0002827
6536	SLC6A9	Dolichocephaly	HP:0000268
6536	SLC6A9	Long eyelashes	HP:0000527
6536	SLC6A9	Anteverted nares	HP:0000463
6536	SLC6A9	Encephalopathy	HP:0001298
6536	SLC6A9	Retrognathia	HP:0000278
6536	SLC6A9	Exaggerated startle response	HP:0002267
6536	SLC6A9	Fetal distress	HP:0025116
6536	SLC6A9	Dysphagia	HP:0002015
6536	SLC6A9	Hypoplasia of the corpus callosum	HP:0002079
6536	SLC6A9	Depressed nasal bridge	HP:0005280
6536	SLC6A9	Talipes equinovarus	HP:0001762
6536	SLC6A9	Hand clenching	HP:0001188
6536	SLC6A9	Muscular hypotonia of the trunk	HP:0008936
6536	SLC6A9	Elbow flexion contracture	HP:0002987
6536	SLC6A9	Joint laxity	HP:0001388
6536	SLC6A9	Global developmental delay	HP:0001263
6536	SLC6A9	Low-set ears	HP:0000369
6536	SLC6A9	Trigonocephaly	HP:0000243
6536	SLC6A9	Arthrogryposis multiplex congenita	HP:0002804
6536	SLC6A9	Overlapping toe	HP:0001845
6536	SLC6A9	Apnea	HP:0002104
6536	SLC6A9	Congenital onset	HP:0003577
6536	SLC6A9	Clonus	HP:0002169
6536	SLC6A9	Ptosis	HP:0000508
6536	SLC6A9	Microcephaly	HP:0000252
6536	SLC6A9	Hypertonia	HP:0001276
6536	SLC6A9	Respiratory failure	HP:0002878
55690	PACS1	Absent speech	HP:0001344
55690	PACS1	Feeding difficulties	HP:0011968
55690	PACS1	Autosomal dominant inheritance	HP:0000006
55690	PACS1	Abnormal cardiac septum morphology	HP:0001671
55690	PACS1	Generalized hypotonia	HP:0001290
55690	PACS1	Aggressive behavior	HP:0000718
55690	PACS1	Long eyelashes	HP:0000527
55690	PACS1	Macrotia	HP:0000400
55690	PACS1	Wide intermamillary distance	HP:0006610
55690	PACS1	Volvulus	HP:0002580
55690	PACS1	Cavum septum pellucidum	HP:0002389
55690	PACS1	Synophrys	HP:0000664
55690	PACS1	Speech apraxia	HP:0011098
55690	PACS1	Downturned corners of mouth	HP:0002714
55690	PACS1	Wide mouth	HP:0000154
55690	PACS1	Thin upper lip vermilion	HP:0000219
55690	PACS1	Cryptorchidism	HP:0000028
55690	PACS1	Bulbous nose	HP:0000414
55690	PACS1	Intellectual disability	HP:0001249
55690	PACS1	Myopia	HP:0000545
55690	PACS1	Seizures	HP:0001250
55690	PACS1	Pes planus	HP:0001763
55690	PACS1	Constipation	HP:0002019
55690	PACS1	Strabismus	HP:0000486
55690	PACS1	Low anterior hairline	HP:0000294
55690	PACS1	Cerebellar hypoplasia	HP:0001321
55690	PACS1	Long foot	HP:0001833
55690	PACS1	Patent ductus arteriosus	HP:0001643
55690	PACS1	Single umbilical artery	HP:0001195
55690	PACS1	Delayed speech and language development	HP:0000750
55690	PACS1	Downslanted palpebral fissures	HP:0000494
55690	PACS1	Bicuspid aortic valve	HP:0001647
55690	PACS1	Global developmental delay	HP:0001263
55690	PACS1	Low-set ears	HP:0000369
55690	PACS1	Patent foramen ovale	HP:0001655
55690	PACS1	Highly arched eyebrow	HP:0002553
55690	PACS1	Diastema	HP:0000699
55690	PACS1	Hypertelorism	HP:0000316
55690	PACS1	Ptosis	HP:0000508
55690	PACS1	Nystagmus	HP:0000639
55690	PACS1	Smooth philtrum	HP:0000319
55691	FRMD4A	Absent speech	HP:0001344
55691	FRMD4A	Sparse hair	HP:0008070
55691	FRMD4A	Autosomal recessive inheritance	HP:0000007
55691	FRMD4A	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
55691	FRMD4A	Limb hypertonia	HP:0002509
55691	FRMD4A	Long eyelashes	HP:0000527
55691	FRMD4A	Anteverted nares	HP:0000463
55691	FRMD4A	Narrow forehead	HP:0000341
55691	FRMD4A	Protruding ear	HP:0000411
55691	FRMD4A	Poor speech	HP:0002465
55691	FRMD4A	Intellectual disability	HP:0001249
55691	FRMD4A	Ataxia	HP:0001251
55691	FRMD4A	Nonprogressive cerebellar ataxia	HP:0002470
55691	FRMD4A	Low anterior hairline	HP:0000294
55691	FRMD4A	Growth delay	HP:0001510
55691	FRMD4A	Strabismus	HP:0000486
55691	FRMD4A	Posteriorly rotated ears	HP:0000358
55691	FRMD4A	Cerebellar vermis hypoplasia	HP:0001320
55691	FRMD4A	Everted lower lip vermilion	HP:0000232
55691	FRMD4A	Cerebellar hypoplasia	HP:0001321
55691	FRMD4A	Global developmental delay	HP:0001263
55691	FRMD4A	Hirsutism	HP:0001007
55691	FRMD4A	Low-set, posteriorly rotated ears	HP:0000368
55691	FRMD4A	Intellectual disability, severe	HP:0010864
55691	FRMD4A	Low-set ears	HP:0000369
55691	FRMD4A	Thick lower lip vermilion	HP:0000179
55691	FRMD4A	Upper eyelid edema	HP:0012724
55691	FRMD4A	Highly arched eyebrow	HP:0002553
55691	FRMD4A	Agenesis of corpus callosum	HP:0001274
55691	FRMD4A	Partial agenesis of the corpus callosum	HP:0001338
55691	FRMD4A	Congenital microcephaly	HP:0011451
55691	FRMD4A	Palpebral edema	HP:0100540
55691	FRMD4A	Thick eyebrow	HP:0000574
22926	ATF6	Abnormal electroretinogram	HP:0000512
22926	ATF6	Exotropia	HP:0000577
22926	ATF6	Attenuation of retinal blood vessels	HP:0007843
22926	ATF6	Blue cone monochromacy	HP:0007939
22926	ATF6	Photophobia	HP:0000613
22926	ATF6	Hypoplasia of the fovea	HP:0007750
22926	ATF6	Color vision defect	HP:0000551
22926	ATF6	Autosomal recessive inheritance	HP:0000007
22926	ATF6	Macular atrophy	HP:0007401
22926	ATF6	Absent foveal reflex	HP:0030825
22926	ATF6	Retinal pigment epithelial atrophy	HP:0007722
22926	ATF6	Pendular nystagmus	HP:0012043
22926	ATF6	Reduced visual acuity	HP:0007663
22926	ATF6	Granular macular appearance	HP:0007793
22926	ATF6	Nyctalopia	HP:0000662
22926	ATF6	Abnormality of retinal pigmentation	HP:0007703
22926	ATF6	Visual impairment	HP:0000505
22926	ATF6	Dyschromatopsia	HP:0007641
22926	ATF6	Central scotoma	HP:0000603
22926	ATF6	Achromatopsia	HP:0011516
22926	ATF6	Hypermetropia	HP:0000540
22926	ATF6	Nystagmus	HP:0000639
80270	HSD3B7	Hepatomegaly	HP:0002240
80270	HSD3B7	Autosomal recessive inheritance	HP:0000007
80270	HSD3B7	Abnormality of coagulation	HP:0001928
80270	HSD3B7	Steatorrhea	HP:0002570
80270	HSD3B7	Hypocholesterolemia	HP:0003146
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 transaminase	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
55697	VAC14	Increased nuchal translucency	HP:0010880
55697	VAC14	Renal artery stenosis	HP:0001920
55697	VAC14	Slender long bones with narrow diaphyses	HP:0004993
55697	VAC14	Drooling	HP:0002307
55697	VAC14	Short ribs	HP:0000773
55697	VAC14	Cataract	HP:0000518
55697	VAC14	Abnormality of the occipital bone	HP:0012294
55697	VAC14	Autosomal recessive inheritance	HP:0000007
55697	VAC14	Sclerocornea	HP:0000647
55697	VAC14	Syndactyly	HP:0001159
55697	VAC14	Proptosis	HP:0000520
55697	VAC14	Abnormal parietal bone morphology	HP:0002696
55697	VAC14	Narrow nasal base	HP:0012809
55697	VAC14	Hip dislocation	HP:0002827
55697	VAC14	Dolichocephaly	HP:0000268
55697	VAC14	Unsteady gait	HP:0002317
55697	VAC14	Sparse eyelashes	HP:0000653
55697	VAC14	High, narrow palate	HP:0002705
55697	VAC14	Craniofacial dystonia	HP:0012179
55697	VAC14	Sparse eyebrow	HP:0045075
55697	VAC14	Pachygyria	HP:0001302
55697	VAC14	Aplasia of the distal phalanges of the hand	HP:0009881
55697	VAC14	Polyhydramnios	HP:0001561
55697	VAC14	Cryptorchidism	HP:0000028
55697	VAC14	Tapered finger	HP:0001182
55697	VAC14	Sparse scalp hair	HP:0002209
55697	VAC14	Shortening of all distal phalanges of the toes	HP:0005793
55697	VAC14	Glossoptosis	HP:0000162
55697	VAC14	Hypoplasia of the frontal lobes	HP:0007333
55697	VAC14	Cerebellar hypoplasia	HP:0001321
55697	VAC14	Wide cranial sutures	HP:0010537
55697	VAC14	Pulmonary arterial hypertension	HP:0002092
55697	VAC14	Loss of ability to walk	HP:0006957
55697	VAC14	Rocker bottom foot	HP:0001838
55697	VAC14	Hypospadias	HP:0000047
55697	VAC14	Bilateral external ear deformity	HP:0040111
55697	VAC14	Metatarsus adductus	HP:0001840
55697	VAC14	Absent thumb	HP:0009777
55697	VAC14	Aplasia of the 1st metacarpal	HP:0010035
55697	VAC14	Premature loss of primary teeth	HP:0006323
55697	VAC14	Abnormality of dental structure	HP:0011061
55697	VAC14	Aplasia/Hypoplasia of the nipples	HP:0006709
55697	VAC14	Micropenis	HP:0000054
55697	VAC14	Aplasia/Hypoplasia of the clavicles	HP:0006710
55697	VAC14	Aplasia/Hypoplasia of the scapulae	HP:0006713
55697	VAC14	Single transverse palmar crease	HP:0000954
55697	VAC14	Short middle phalanx of finger	HP:0005819
55697	VAC14	Hypoplastic labia majora	HP:0000059
55697	VAC14	Congenital microcephaly	HP:0011451
55697	VAC14	Short upper lip	HP:0000188
55697	VAC14	Hypertelorism	HP:0000316
55697	VAC14	Postnatal growth retardation	HP:0008897
55697	VAC14	Aplasia/Hypoplasia of the nails	HP:0008386
55697	VAC14	Short philtrum	HP:0000322
55697	VAC14	Hyperreflexia	HP:0001347
55697	VAC14	Upslanted palpebral fissure	HP:0000582
55697	VAC14	Flared metaphysis	HP:0003015
55697	VAC14	Developmental regression	HP:0002376
55697	VAC14	Short chin	HP:0000331
55697	VAC14	Anteverted nares	HP:0000463
55697	VAC14	Renovascular hypertension	HP:0100817
55697	VAC14	Bilateral microphthalmos	HP:0007633
55697	VAC14	Aplasia/hypoplasia of the 1st metatarsal	HP:0010067
55697	VAC14	Broad secondary alveolar ridge	HP:0000216
55697	VAC14	Clitoral hypertrophy	HP:0008665
55697	VAC14	Micrognathia	HP:0000347
55697	VAC14	Arrhinencephaly	HP:0002139
55697	VAC14	Progressive	HP:0003676
55697	VAC14	High forehead	HP:0000348
55697	VAC14	Ventricular septal defect	HP:0001629
55697	VAC14	Dysphagia	HP:0002015
55697	VAC14	Atrial septal defect	HP:0001631
55697	VAC14	Gingival recession	HP:0030816
55697	VAC14	Neuronal loss in central nervous system	HP:0002529
55697	VAC14	Short stature	HP:0004322
55697	VAC14	Abnormal pelvis bone morphology	HP:0040163
55697	VAC14	Tetralogy of Fallot	HP:0001636
55697	VAC14	Absent sternal ossification	HP:0006628
55697	VAC14	Pyloric stenosis	HP:0002021
55697	VAC14	Redundant neck skin	HP:0005989
55697	VAC14	Cardiomyopathy	HP:0001638
55697	VAC14	Generalized neonatal hypotonia	HP:0008935
55697	VAC14	Cardiomegaly	HP:0001640
55697	VAC14	Thin vermilion border	HP:0000233
55697	VAC14	Decreased skull ossification	HP:0004331
55697	VAC14	Hearing impairment	HP:0000365
55697	VAC14	Delayed speech and language development	HP:0000750
55697	VAC14	Hydrocephalus	HP:0000238
55697	VAC14	Global developmental delay	HP:0001263
55697	VAC14	Low-set ears	HP:0000369
55697	VAC14	Severe failure to thrive	HP:0001525
55697	VAC14	Aplasia of the distal phalanx of the hallux	HP:0010102
55697	VAC14	Agenesis of corpus callosum	HP:0001274
55697	VAC14	Short proximal phalanx of hallux	HP:0010107
55697	VAC14	Hypertonia	HP:0001276
55697	VAC14	Hydrops fetalis	HP:0001789
22930	RAB3GAP1	Cataract	HP:0000518
22930	RAB3GAP1	Developmental cataract	HP:0000519
22930	RAB3GAP1	Autosomal recessive inheritance	HP:0000007
22930	RAB3GAP1	Optic atrophy	HP:0000648
22930	RAB3GAP1	Abnormality of visual evoked potentials	HP:0000649
22930	RAB3GAP1	Generalized hypotonia	HP:0001290
22930	RAB3GAP1	Abnormality of the antihelix	HP:0009738
22930	RAB3GAP1	Cerebral atrophy	HP:0002059
22930	RAB3GAP1	Macrotia	HP:0000400
22930	RAB3GAP1	Malar flattening	HP:0000272
22930	RAB3GAP1	Pachygyria	HP:0001302
22930	RAB3GAP1	Abnormality of retinal pigmentation	HP:0007703
22930	RAB3GAP1	Midface retrusion	HP:0011800
22930	RAB3GAP1	Cryptorchidism	HP:0000028
22930	RAB3GAP1	Hypoplasia of the corpus callosum	HP:0002079
22930	RAB3GAP1	Depressed nasal bridge	HP:0005280
22930	RAB3GAP1	Hypoplasia of penis	HP:0008736
22930	RAB3GAP1	Feeding difficulties in infancy	HP:0008872
22930	RAB3GAP1	Cerebellar vermis hypoplasia	HP:0001320
22930	RAB3GAP1	Cerebellar hypoplasia	HP:0001321
22930	RAB3GAP1	External genital hypoplasia	HP:0003241
22930	RAB3GAP1	Facial hypertrichosis	HP:0002219
22930	RAB3GAP1	Osteoporosis	HP:0000939
22930	RAB3GAP1	Hypogonadotrophic hypogonadism	HP:0000044
22930	RAB3GAP1	Wide nasal bridge	HP:0000431
22930	RAB3GAP1	Misalignment of teeth	HP:0000692
22930	RAB3GAP1	Overlapping toe	HP:0001845
22930	RAB3GAP1	Abnormal dermatoglyphics	HP:0007477
22930	RAB3GAP1	Generalized hirsutism	HP:0002230
22930	RAB3GAP1	Delayed puberty	HP:0000823
22930	RAB3GAP1	Microphthalmia	HP:0000568
22930	RAB3GAP1	Clitoral hypoplasia	HP:0000060
22930	RAB3GAP1	Kyphoscoliosis	HP:0002751
22930	RAB3GAP1	Abnormal localization of kidney	HP:0100542
22930	RAB3GAP1	Hypoplastic labia minora	HP:0000064
22930	RAB3GAP1	Short philtrum	HP:0000322
22930	RAB3GAP1	Hyperreflexia	HP:0001347
22930	RAB3GAP1	Abnormal toenail morphology	HP:0008388
22930	RAB3GAP1	Prematurely aged appearance	HP:0007495
22930	RAB3GAP1	Cerebral cortical atrophy	HP:0002120
22930	RAB3GAP1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
22930	RAB3GAP1	Anteverted nares	HP:0000463
22930	RAB3GAP1	Hypotelorism	HP:0000601
22930	RAB3GAP1	High palate	HP:0000218
22930	RAB3GAP1	Scoliosis	HP:0002650
22930	RAB3GAP1	Micrognathia	HP:0000347
22930	RAB3GAP1	Furrowed tongue	HP:0000221
22930	RAB3GAP1	Retinal coloboma	HP:0000480
22930	RAB3GAP1	Intellectual disability	HP:0001249
22930	RAB3GAP1	Cerebral visual impairment	HP:0100704
22930	RAB3GAP1	Short stature	HP:0004322
22930	RAB3GAP1	Microcornea	HP:0000482
22930	RAB3GAP1	Seizures	HP:0001250
22930	RAB3GAP1	Failure to thrive	HP:0001508
22930	RAB3GAP1	Muscular hypotonia	HP:0001252
22930	RAB3GAP1	Joint hypermobility	HP:0001382
22930	RAB3GAP1	Peripheral neuropathy	HP:0009830
22930	RAB3GAP1	Intrauterine growth retardation	HP:0001511
22930	RAB3GAP1	Abnormal distal phalanx morphology of finger	HP:0009832
22930	RAB3GAP1	Everted lower lip vermilion	HP:0000232
22930	RAB3GAP1	Spasticity	HP:0001257
22930	RAB3GAP1	Deeply set eye	HP:0000490
22930	RAB3GAP1	Hyperlordosis	HP:0003307
22930	RAB3GAP1	Joint stiffness	HP:0001387
22930	RAB3GAP1	Global developmental delay	HP:0001263
22930	RAB3GAP1	Spastic diplegia	HP:0001264
22930	RAB3GAP1	Low-set, posteriorly rotated ears	HP:0000368
22930	RAB3GAP1	Intellectual disability, severe	HP:0010864
22930	RAB3GAP1	Low posterior hairline	HP:0002162
22930	RAB3GAP1	Brachycephaly	HP:0000248
22930	RAB3GAP1	Kyphosis	HP:0002808
22930	RAB3GAP1	Ulnar deviation of finger	HP:0009465
22930	RAB3GAP1	Agenesis of corpus callosum	HP:0001274
22930	RAB3GAP1	Ptosis	HP:0000508
22930	RAB3GAP1	Microcephaly	HP:0000252
22930	RAB3GAP1	Short nose	HP:0003196
22930	RAB3GAP1	Hydronephrosis	HP:0000126
55699	IARS2	Cataract	HP:0000518
55699	IARS2	Autosomal recessive inheritance	HP:0000007
55699	IARS2	Developmental cataract	HP:0000519
55699	IARS2	Achalasia	HP:0002571
55699	IARS2	Hip dislocation	HP:0002827
55699	IARS2	Prelingual sensorineural hearing impairment	HP:0000399
55699	IARS2	Prominent forehead	HP:0011220
55699	IARS2	Long philtrum	HP:0000343
55699	IARS2	Sensorineural hearing impairment	HP:0000407
55699	IARS2	Spinal canal stenosis	HP:0003416
55699	IARS2	Progressive sensorineural hearing impairment	HP:0000408
55699	IARS2	Scoliosis	HP:0002650
55699	IARS2	Fasting hypoglycemia	HP:0003162
55699	IARS2	Flexion contracture	HP:0001371
55699	IARS2	Thoracic kyphoscoliosis	HP:0005659
55699	IARS2	Congenital hip dislocation	HP:0001374
55699	IARS2	Spondyloepiphyseal dysplasia	HP:0002655
55699	IARS2	Depressed nasal bridge	HP:0005280
55699	IARS2	Narrow mouth	HP:0000160
55699	IARS2	Short stature	HP:0004322
55699	IARS2	Sensorimotor neuropathy	HP:0007141
55699	IARS2	Peripheral neuropathy	HP:0009830
55699	IARS2	Genu valgum	HP:0002857
55699	IARS2	Osteopenia	HP:0000938
55699	IARS2	Bilateral sensorineural hearing impairment	HP:0008619
55699	IARS2	Periarticular subcutaneous nodules	HP:0007470
55699	IARS2	Hyporeflexia	HP:0001265
55699	IARS2	Motor delay	HP:0001270
55699	IARS2	Distal sensory impairment	HP:0002936
55699	IARS2	Growth hormone deficiency	HP:0000824
55699	IARS2	Sensory neuropathy	HP:0000763
55699	IARS2	Cervical spinal canal stenosis	HP:0008445
55699	IARS2	Thick eyebrow	HP:0000574
55699	IARS2	Nystagmus	HP:0000639
22931	RAB18	Cataract	HP:0000518
22931	RAB18	Autosomal recessive inheritance	HP:0000007
22931	RAB18	Developmental cataract	HP:0000519
22931	RAB18	Optic atrophy	HP:0000648
22931	RAB18	Abnormality of visual evoked potentials	HP:0000649
22931	RAB18	Intellectual disability, profound	HP:0002187
22931	RAB18	Macrotia	HP:0000400
22931	RAB18	Pachygyria	HP:0001302
22931	RAB18	Abnormality of retinal pigmentation	HP:0007703
22931	RAB18	Downturned corners of mouth	HP:0002714
22931	RAB18	Cryptorchidism	HP:0000028
22931	RAB18	Decreased testicular size	HP:0008734
22931	RAB18	Hypoplasia of the corpus callosum	HP:0002079
22931	RAB18	Hypoplasia of penis	HP:0008736
22931	RAB18	Low anterior hairline	HP:0000294
22931	RAB18	Cerebellar vermis hypoplasia	HP:0001320
22931	RAB18	Scrotal hypoplasia	HP:0000046
22931	RAB18	Wide nasal bridge	HP:0000431
22931	RAB18	Generalized hirsutism	HP:0002230
22931	RAB18	Micropenis	HP:0000054
22931	RAB18	Delayed puberty	HP:0000823
22931	RAB18	Microphthalmia	HP:0000568
22931	RAB18	Ankle clonus	HP:0011448
22931	RAB18	Clitoral hypoplasia	HP:0000060
22931	RAB18	Narrow palate	HP:0000189
22931	RAB18	Abnormal localization of kidney	HP:0100542
22931	RAB18	Kyphoscoliosis	HP:0002751
22931	RAB18	Hypoplastic labia minora	HP:0000064
22931	RAB18	Postnatal growth retardation	HP:0008897
22931	RAB18	Short philtrum	HP:0000322
22931	RAB18	Blepharophimosis	HP:0000581
22931	RAB18	Ventriculomegaly	HP:0002119
22931	RAB18	Cerebral cortical atrophy	HP:0002120
22931	RAB18	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
22931	RAB18	Polymicrogyria	HP:0002126
22931	RAB18	Spastic tetraplegia	HP:0002510
22931	RAB18	Anteverted nares	HP:0000463
22931	RAB18	Shallow anterior chamber	HP:0000594
22931	RAB18	Scoliosis	HP:0002650
22931	RAB18	High palate	HP:0000218
22931	RAB18	Micrognathia	HP:0000347
22931	RAB18	Flexion contracture	HP:0001371
22931	RAB18	Retinal coloboma	HP:0000480
22931	RAB18	Cerebral visual impairment	HP:0100704
22931	RAB18	Seizures	HP:0001250
22931	RAB18	Short stature	HP:0004322
22931	RAB18	Microcornea	HP:0000482
22931	RAB18	Muscular hypotonia	HP:0001252
22931	RAB18	Peripheral neuropathy	HP:0009830
22931	RAB18	Hypertrichosis	HP:0000998
22931	RAB18	Intrauterine growth retardation	HP:0001511
22931	RAB18	Muscular hypotonia of the trunk	HP:0008936
22931	RAB18	Spasticity	HP:0001257
22931	RAB18	Joint stiffness	HP:0001387
22931	RAB18	Postnatal microcephaly	HP:0005484
22931	RAB18	Global developmental delay	HP:0001263
22931	RAB18	Low-set, posteriorly rotated ears	HP:0000368
22931	RAB18	Intellectual disability, severe	HP:0010864
22931	RAB18	Clinodactyly of the 5th finger	HP:0004209
22931	RAB18	Kyphosis	HP:0002808
22931	RAB18	Brachycephaly	HP:0000248
22931	RAB18	Short nose	HP:0003196
22931	RAB18	Microcephaly	HP:0000252
22931	RAB18	Hydronephrosis	HP:0000126
22931	RAB18	Nystagmus	HP:0000639
6548	SLC9A1	Gait ataxia	HP:0002066
6548	SLC9A1	Short stature	HP:0004322
6548	SLC9A1	Motor delay	HP:0001270
6548	SLC9A1	Limb ataxia	HP:0002070
6548	SLC9A1	Autosomal recessive inheritance	HP:0000007
6548	SLC9A1	Cerebellar atrophy	HP:0001272
6548	SLC9A1	Action tremor	HP:0002345
6548	SLC9A1	Dysdiadochokinesis	HP:0002075
6548	SLC9A1	Progressive	HP:0003676
6548	SLC9A1	Dysarthria	HP:0001260
6548	SLC9A1	Dysmetria	HP:0001310
6548	SLC9A1	Nystagmus	HP:0000639
22934	RPIA	Decreased level of erythritol in urine	HP:0410055
22934	RPIA	Seizures	HP:0001250
22934	RPIA	Ataxia	HP:0001251
22934	RPIA	Sensorimotor neuropathy	HP:0007141
22934	RPIA	Autosomal recessive inheritance	HP:0000007
22934	RPIA	Optic atrophy	HP:0000648
22934	RPIA	Spasticity	HP:0001257
22934	RPIA	Increased level of D-threitol in CSF	HP:0410058
22934	RPIA	Psychomotor retardation	HP:0025356
22934	RPIA	Dysarthria	HP:0001260
22934	RPIA	Increased level of D-threitol in urine	HP:0410059
22934	RPIA	Decreased level of erythritol in CSF	HP:0410056
22934	RPIA	Elevated circulating ribitol concentration	HP:0025550
22934	RPIA	Global developmental delay	HP:0001263
22934	RPIA	Increased level of D-threitol in plasma	HP:0410057
22934	RPIA	Increased level of ribitol in urine	HP:0410070
22934	RPIA	Leukoencephalopathy	HP:0002352
22934	RPIA	Increased level of ribitol in CSF	HP:0410071
22934	RPIA	Polyneuropathy	HP:0001271
22934	RPIA	Increased level of xylitol in urine	HP:0410074
22934	RPIA	Increased level of xylitol in CSF	HP:0410075
22934	RPIA	Increased level of ribose in urine	HP:0410072
22934	RPIA	Nystagmus	HP:0000639
22934	RPIA	Increased level of ribose in CSF	HP:0410073
6550	SLC9A3	Inflammation of the large intestine	HP:0002037
6550	SLC9A3	Abdominal distention	HP:0003270
6550	SLC9A3	Autosomal recessive inheritance	HP:0000007
6550	SLC9A3	Secretory diarrhea	HP:0005208
6550	SLC9A3	Polyhydramnios	HP:0001561
63894	VIPAS39	Ichthyosis	HP:0008064
63894	VIPAS39	Right ventricular hypertrophy	HP:0001667
63894	VIPAS39	Failure to thrive	HP:0001508
63894	VIPAS39	Autosomal recessive inheritance	HP:0000007
63894	VIPAS39	Hip dysplasia	HP:0001385
63894	VIPAS39	Generalized hypotonia	HP:0001290
63894	VIPAS39	Nephrogenic diabetes insipidus	HP:0009806
63894	VIPAS39	Global developmental delay	HP:0001263
63894	VIPAS39	Nephropathy	HP:0000112
63894	VIPAS39	Low-set ears	HP:0000369
63894	VIPAS39	Cholestatic liver disease	HP:0002611
63894	VIPAS39	Sloping forehead	HP:0000340
63894	VIPAS39	Arthrogryposis multiplex congenita	HP:0002804
63894	VIPAS39	Metabolic acidosis	HP:0001942
63894	VIPAS39	Giant cell hepatitis	HP:0200084
63894	VIPAS39	Jaundice	HP:0000952
63894	VIPAS39	Nephrocalcinosis	HP:0000121
63894	VIPAS39	Lissencephaly	HP:0001339
63894	VIPAS39	Renal tubular acidosis	HP:0001947
63894	VIPAS39	Conjugated hyperbilirubinemia	HP:0002908
63894	VIPAS39	Talipes calcaneovalgus	HP:0001884
63894	VIPAS39	Microcephaly	HP:0000252
63894	VIPAS39	Ventricular septal defect	HP:0001629
63894	VIPAS39	Elevated hepatic transaminase	HP:0002910
55703	POLR3B	Gynecomastia	HP:0000771
55703	POLR3B	Drooling	HP:0002307
55703	POLR3B	Hyperreflexia	HP:0001347
55703	POLR3B	Autosomal dominant inheritance	HP:0000006
55703	POLR3B	Autosomal recessive inheritance	HP:0000007
55703	POLR3B	Optic atrophy	HP:0000648
55703	POLR3B	Cerebral cortical atrophy	HP:0002120
55703	POLR3B	Abnormal upper motor neuron morphology	HP:0002127
55703	POLR3B	Primary amenorrhea	HP:0000786
55703	POLR3B	Infertility	HP:0000789
55703	POLR3B	Cerebral hypomyelination	HP:0006808
55703	POLR3B	Horizontal nystagmus	HP:0000666
55703	POLR3B	Dysdiadochokinesis	HP:0002075
55703	POLR3B	Hypodontia	HP:0000668
55703	POLR3B	Cryptorchidism	HP:0000028
55703	POLR3B	Progressive	HP:0003676
55703	POLR3B	Decreased testicular size	HP:0008734
55703	POLR3B	Dysmetria	HP:0001310
55703	POLR3B	Hypoplasia of the corpus callosum	HP:0002079
55703	POLR3B	Babinski sign	HP:0003487
55703	POLR3B	Dysphagia	HP:0002015
55703	POLR3B	Intention tremor	HP:0002080
55703	POLR3B	Myopia	HP:0000545
55703	POLR3B	Short stature	HP:0004322
55703	POLR3B	Ataxia	HP:0001251
55703	POLR3B	CNS hypomyelination	HP:0003429
55703	POLR3B	Oligodontia	HP:0000677
55703	POLR3B	Peripheral neuropathy	HP:0009830
55703	POLR3B	Sparse axillary hair	HP:0002215
55703	POLR3B	Intellectual disability, mild	HP:0001256
55703	POLR3B	Spasticity	HP:0001257
55703	POLR3B	Hypogonadotrophic hypogonadism	HP:0000044
55703	POLR3B	Dysarthria	HP:0001260
55703	POLR3B	Delayed eruption of teeth	HP:0000684
55703	POLR3B	Hypergonadotropic hypogonadism	HP:0000815
55703	POLR3B	Global developmental delay	HP:0001263
55703	POLR3B	Leukodystrophy	HP:0002415
55703	POLR3B	Sparse pubic hair	HP:0002225
55703	POLR3B	Dystonia	HP:0001332
55703	POLR3B	Micropenis	HP:0000054
55703	POLR3B	Delayed puberty	HP:0000823
55703	POLR3B	Cerebellar atrophy	HP:0001272
55703	POLR3B	Postural tremor	HP:0002174
55703	POLR3B	Nystagmus	HP:0000639
55703	POLR3B	Impaired horizontal smooth pursuit	HP:0001151
63895	PIEZO2	Pectus carinatum	HP:0000768
63895	PIEZO2	Abnormal electroretinogram	HP:0000512
63895	PIEZO2	Joint contracture of the hand	HP:0009473
63895	PIEZO2	Deviation of finger	HP:0004097
63895	PIEZO2	Multicystic kidney dysplasia	HP:0000003
63895	PIEZO2	Wide anterior fontanel	HP:0000260
63895	PIEZO2	Areflexia	HP:0001284
63895	PIEZO2	Autosomal dominant inheritance	HP:0000006
63895	PIEZO2	Autosomal recessive inheritance	HP:0000007
63895	PIEZO2	Generalized hypotonia	HP:0001290
63895	PIEZO2	Myopathic facies	HP:0002058
63895	PIEZO2	Abnormality of the rib cage	HP:0001547
63895	PIEZO2	Retrognathia	HP:0000278
63895	PIEZO2	Inguinal hernia	HP:0000023
63895	PIEZO2	Abnormality of retinal pigmentation	HP:0007703
63895	PIEZO2	Dandy-Walker malformation	HP:0001305
63895	PIEZO2	Cryptorchidism	HP:0000028
63895	PIEZO2	Hypermetropia	HP:0000540
63895	PIEZO2	Epicanthus	HP:0000286
63895	PIEZO2	Abnormality of the cerebellar vermis	HP:0002334
63895	PIEZO2	Epispadias	HP:0000039
63895	PIEZO2	Neonatal hypotonia	HP:0001319
63895	PIEZO2	Decreased palmar creases	HP:0006184
63895	PIEZO2	Cerebellar hypoplasia	HP:0001321
63895	PIEZO2	Pulmonary hypoplasia	HP:0002089
63895	PIEZO2	Mask-like facies	HP:0000298
63895	PIEZO2	Restrictive ventilatory defect	HP:0002091
63895	PIEZO2	Camptodactyly of toe	HP:0001836
63895	PIEZO2	Respiratory insufficiency	HP:0002093
63895	PIEZO2	Hypospadias	HP:0000047
63895	PIEZO2	Metatarsus adductus	HP:0001840
63895	PIEZO2	Specific learning disability	HP:0001328
63895	PIEZO2	Absent septum pellucidum	HP:0001331
63895	PIEZO2	Keratoconus	HP:0000563
63895	PIEZO2	Distal arthrogryposis	HP:0005684
63895	PIEZO2	Overlapping toe	HP:0001845
63895	PIEZO2	Micropenis	HP:0000054
63895	PIEZO2	Microphthalmia	HP:0000568
63895	PIEZO2	Cutaneous finger syndactyly	HP:0010554
63895	PIEZO2	Hypertelorism	HP:0000316
63895	PIEZO2	Sandal gap	HP:0001852
63895	PIEZO2	Hypoplasia of the brainstem	HP:0002365
63895	PIEZO2	Sensory axonal neuropathy	HP:0003390
63895	PIEZO2	Decreased facial expression	HP:0004673
63895	PIEZO2	Facial asymmetry	HP:0000324
63895	PIEZO2	Blepharophimosis	HP:0000581
63895	PIEZO2	Triangular face	HP:0000325
63895	PIEZO2	Hydroureter	HP:0000072
63895	PIEZO2	Short phalanx of finger	HP:0009803
63895	PIEZO2	Down-sloping shoulders	HP:0200021
63895	PIEZO2	Long philtrum	HP:0000343
63895	PIEZO2	Broad-based gait	HP:0002136
63895	PIEZO2	Renal hypoplasia	HP:0000089
63895	PIEZO2	Scoliosis	HP:0002650
63895	PIEZO2	Ophthalmoplegia	HP:0000602
63895	PIEZO2	Micrognathia	HP:0000347
63895	PIEZO2	Talipes	HP:0001883
63895	PIEZO2	Flexion contracture	HP:0001371
63895	PIEZO2	Progressive	HP:0003676
63895	PIEZO2	Ventricular septal defect	HP:0001629
63895	PIEZO2	Congenital hip dislocation	HP:0001374
63895	PIEZO2	Keratoglobus	HP:0001119
63895	PIEZO2	Limitation of joint mobility	HP:0001376
63895	PIEZO2	Camptodactyly	HP:0012385
63895	PIEZO2	Poor fine motor coordination	HP:0007010
63895	PIEZO2	Posteriorly rotated ears	HP:0000358
63895	PIEZO2	Renal agenesis	HP:0000104
63895	PIEZO2	Hip dysplasia	HP:0001385
63895	PIEZO2	Attention deficit hyperactivity disorder	HP:0007018
63895	PIEZO2	Joint stiffness	HP:0001387
63895	PIEZO2	Limited wrist extension	HP:0006251
63895	PIEZO2	Hearing impairment	HP:0000365
63895	PIEZO2	Renal dysplasia	HP:0000110
63895	PIEZO2	Decreased hip abduction	HP:0003184
63895	PIEZO2	Low-set ears	HP:0000369
63895	PIEZO2	Clinodactyly of the 5th finger	HP:0004209
63895	PIEZO2	Dextrocardia	HP:0001651
63895	PIEZO2	Poor head control	HP:0002421
63895	PIEZO2	Long nose	HP:0003189
63895	PIEZO2	Sensory ataxia	HP:0010871
63895	PIEZO2	Lumbar hyperlordosis	HP:0002938
63895	PIEZO2	Hydronephrosis	HP:0000126
63895	PIEZO2	Decreased muscle mass	HP:0003199
63895	PIEZO2	Thoracolumbar scoliosis	HP:0002944
63895	PIEZO2	Skeletal muscle atrophy	HP:0003202
63895	PIEZO2	Clinodactyly	HP:0030084
63895	PIEZO2	Optic atrophy	HP:0000648
63895	PIEZO2	Camptodactyly of finger	HP:0100490
63895	PIEZO2	Firm muscles	HP:0003725
63895	PIEZO2	Arachnodactyly	HP:0001166
63895	PIEZO2	Macrotia	HP:0000400
63895	PIEZO2	High, narrow palate	HP:0002705
63895	PIEZO2	Protruding ear	HP:0000411
63895	PIEZO2	Inferior vermis hypoplasia	HP:0007068
63895	PIEZO2	Upper limb muscle weakness	HP:0003484
63895	PIEZO2	Radioulnar synostosis	HP:0002974
63895	PIEZO2	Narrow mouth	HP:0000160
63895	PIEZO2	Situs inversus totalis	HP:0001696
63895	PIEZO2	Elevated serum creatine kinase	HP:0003236
63895	PIEZO2	Feeding difficulties in infancy	HP:0008872
63895	PIEZO2	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
63895	PIEZO2	Primitive reflex	HP:0002476
63895	PIEZO2	Lower limb muscle weakness	HP:0007340
63895	PIEZO2	Cleft palate	HP:0000175
63895	PIEZO2	Wide nasal bridge	HP:0000431
63895	PIEZO2	Submucous cleft hard palate	HP:0000176
63895	PIEZO2	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
63895	PIEZO2	Severe short stature	HP:0003510
63895	PIEZO2	Single transverse palmar crease	HP:0000954
63895	PIEZO2	Kyphoscoliosis	HP:0002751
63895	PIEZO2	Feeding difficulties	HP:0011968
63895	PIEZO2	Delayed ability to walk	HP:0031936
63895	PIEZO2	Postnatal growth retardation	HP:0008897
63895	PIEZO2	Bifid uvula	HP:0000193
63895	PIEZO2	Duane anomaly	HP:0009921
63895	PIEZO2	Short palpebral fissure	HP:0012745
63895	PIEZO2	Anteverted nares	HP:0000463
63895	PIEZO2	Fixed facial expression	HP:0005329
63895	PIEZO2	Finger syndactyly	HP:0006101
63895	PIEZO2	Short neck	HP:0000470
63895	PIEZO2	High palate	HP:0000218
63895	PIEZO2	Thin upper lip vermilion	HP:0000219
63895	PIEZO2	Absent phalangeal crease	HP:0006109
63895	PIEZO2	Intellectual disability	HP:0001249
63895	PIEZO2	Seizures	HP:0001250
63895	PIEZO2	Talipes equinovarus	HP:0001762
63895	PIEZO2	Short stature	HP:0004322
63895	PIEZO2	Pes planus	HP:0001763
63895	PIEZO2	Astigmatism	HP:0000483
63895	PIEZO2	Muscular hypotonia	HP:0001252
63895	PIEZO2	Failure to thrive	HP:0001508
63895	PIEZO2	Gastroesophageal reflux	HP:0002020
63895	PIEZO2	Pyloric stenosis	HP:0002021
63895	PIEZO2	Strabismus	HP:0000486
63895	PIEZO2	Intrauterine growth retardation	HP:0001511
63895	PIEZO2	Muscular dystrophy	HP:0003560
63895	PIEZO2	Intellectual disability, mild	HP:0001256
63895	PIEZO2	Deeply set eye	HP:0000490
63895	PIEZO2	Dysarthria	HP:0001260
63895	PIEZO2	Inability to walk	HP:0002540
63895	PIEZO2	Knee flexion contracture	HP:0006380
63895	PIEZO2	Hydrocephalus	HP:0000238
63895	PIEZO2	Global developmental delay	HP:0001263
63895	PIEZO2	Abnormal form of the vertebral bodies	HP:0003312
63895	PIEZO2	Bilateral talipes equinovarus	HP:0001776
63895	PIEZO2	Congenital contracture	HP:0002803
63895	PIEZO2	Arthrogryposis multiplex congenita	HP:0002804
63895	PIEZO2	Motor delay	HP:0001270
63895	PIEZO2	Congenital finger flexion contractures	HP:0005879
63895	PIEZO2	Kyphosis	HP:0002808
63895	PIEZO2	Visual impairment	HP:0000505
63895	PIEZO2	Absent palmar crease	HP:0010489
63895	PIEZO2	Agenesis of corpus callosum	HP:0001274
63895	PIEZO2	Microcephaly	HP:0000252
63895	PIEZO2	Zollinger-Ellison syndrome	HP:0002044
63895	PIEZO2	Ptosis	HP:0000508
63895	PIEZO2	Abnormality of the sternum	HP:0000766
63895	PIEZO2	Pectus excavatum	HP:0000767
63895	PIEZO2	Dimple chin	HP:0010751
55704	CCDC88A	Absent speech	HP:0001344
55704	CCDC88A	Infantile encephalopathy	HP:0007105
55704	CCDC88A	Hyperreflexia	HP:0001347
55704	CCDC88A	Full cheeks	HP:0000293
55704	CCDC88A	Neonatal hypotonia	HP:0001319
55704	CCDC88A	Ventriculomegaly	HP:0002119
55704	CCDC88A	Optic atrophy	HP:0000648
55704	CCDC88A	Edema	HP:0000969
55704	CCDC88A	Intellectual disability, profound	HP:0002187
55704	CCDC88A	Severe muscular hypotonia	HP:0006829
55704	CCDC88A	Polymicrogyria	HP:0002126
55704	CCDC88A	Global developmental delay	HP:0001263
55704	CCDC88A	Sloping forehead	HP:0000340
55704	CCDC88A	Narrow forehead	HP:0000341
55704	CCDC88A	Status epilepticus	HP:0002133
55704	CCDC88A	Pachygyria	HP:0001302
55704	CCDC88A	Retrognathia	HP:0000278
55704	CCDC88A	Cerebellar atrophy	HP:0001272
55704	CCDC88A	Myoclonus	HP:0001336
55704	CCDC88A	Hypsarrhythmia	HP:0002521
55704	CCDC88A	Epicanthus	HP:0000286
55704	CCDC88A	Hypoplasia of the corpus callosum	HP:0002079
6555	SLC10A2	Variable expressivity	HP:0003828
6555	SLC10A2	Failure to thrive	HP:0001508
6555	SLC10A2	Growth delay	HP:0001510
6555	SLC10A2	Autosomal recessive inheritance	HP:0000007
6555	SLC10A2	Infantile onset	HP:0003593
6555	SLC10A2	Steatorrhea	HP:0002570
6555	SLC10A2	Chronic diarrhea	HP:0002028
6556	SLC11A1	Weight loss	HP:0001824
6556	SLC11A1	Abnormal lung morphology	HP:0002088
6556	SLC11A1	Fever	HP:0001945
6556	SLC11A1	Fatigue	HP:0012378
6556	SLC11A1	Cough	HP:0012735
63901	FAM111A	Macrocephaly	HP:0000256
63901	FAM111A	Brachydactyly	HP:0001156
63901	FAM111A	Ascites	HP:0001541
63901	FAM111A	Autosomal dominant inheritance	HP:0000006
63901	FAM111A	Congenital hypoparathyroidism	HP:0008198
63901	FAM111A	Developmental cataract	HP:0000519
63901	FAM111A	Abnormal circulating follicle-stimulating hormone level	HP:0030346
63901	FAM111A	Delayed cranial suture closure	HP:0000270
63901	FAM111A	Aniridia	HP:0000526
63901	FAM111A	Hypocalcemic tetany	HP:0003472
63901	FAM111A	Hypocalcemic seizures	HP:0002199
63901	FAM111A	Abnormality of the medullary cavity of the long bones	HP:0100253
63901	FAM111A	Hypermetropia	HP:0000540
63901	FAM111A	Slender long bone	HP:0003100
63901	FAM111A	Carious teeth	HP:0000670
63901	FAM111A	Decreased testicular size	HP:0008734
63901	FAM111A	Cortical thickening of long bone diaphyses	HP:0005791
63901	FAM111A	Stenosis of the medullary cavity of the long bones	HP:0100254
63901	FAM111A	Thickened cortex of long bones	HP:0000935
63901	FAM111A	Severe short stature	HP:0003510
63901	FAM111A	Retinal calcification	HP:0007862
63901	FAM111A	Micropenis	HP:0000054
63901	FAM111A	Microphthalmia	HP:0000568
63901	FAM111A	Ankyloglossia	HP:0010296
63901	FAM111A	Hypertelorism	HP:0000316
63901	FAM111A	Papilledema	HP:0001085
63901	FAM111A	Hypoparathyroidism	HP:0000829
63901	FAM111A	Delayed skeletal maturation	HP:0002750
63901	FAM111A	Persistence of primary teeth	HP:0006335
63901	FAM111A	Postnatal growth retardation	HP:0008897
63901	FAM111A	Delayed closure of the anterior fontanelle	HP:0001476
63901	FAM111A	Thin long bone diaphyses	HP:0006470
63901	FAM111A	Flared metaphysis	HP:0003015
63901	FAM111A	Calvarial osteosclerosis	HP:0005450
63901	FAM111A	Bilateral microphthalmos	HP:0007633
63901	FAM111A	Asplenia	HP:0001746
63901	FAM111A	Prominent forehead	HP:0011220
63901	FAM111A	High pitched voice	HP:0001620
63901	FAM111A	Hypocalcemia	HP:0002901
63901	FAM111A	Basal ganglia calcification	HP:0002135
63901	FAM111A	Hyperphosphatemia	HP:0002905
63901	FAM111A	Transient hypophosphatemia	HP:0008285
63901	FAM111A	Seizures	HP:0001250
63901	FAM111A	Short stature	HP:0004322
63901	FAM111A	Failure to thrive	HP:0001508
63901	FAM111A	Intrauterine growth retardation	HP:0001511
63901	FAM111A	Decreased skull ossification	HP:0004331
63901	FAM111A	Small for gestational age	HP:0001518
63901	FAM111A	Hydrocephalus	HP:0000238
63901	FAM111A	Anemia	HP:0001903
63901	FAM111A	Global developmental delay	HP:0001263
63901	FAM111A	Postnatal macrocephaly	HP:0005490
63901	FAM111A	Increased bone mineral density	HP:0011001
63901	FAM111A	Hypoplastic spleen	HP:0006270
6557	SLC12A1	Renal potassium wasting	HP:0000128
6557	SLC12A1	Hypercalcemia	HP:0003072
6557	SLC12A1	Tetany	HP:0001281
6557	SLC12A1	Muscle spasm	HP:0003394
6557	SLC12A1	Autosomal recessive inheritance	HP:0000007
6557	SLC12A1	Hyperprostaglandinuria	HP:0003527
6557	SLC12A1	Low-to-normal blood pressure	HP:0002632
6557	SLC12A1	Hyperactive renin-angiotensin system	HP:0000841
6557	SLC12A1	Increased urinary potassium	HP:0003081
6557	SLC12A1	Paresthesia	HP:0003401
6557	SLC12A1	Hyperparathyroidism	HP:0000843
6557	SLC12A1	Increased circulating renin level	HP:0000848
6557	SLC12A1	Heterogeneous	HP:0001425
6557	SLC12A1	Hypokalemia	HP:0002900
6557	SLC12A1	Hyposthenuria	HP:0003158
6557	SLC12A1	Premature birth	HP:0001622
6557	SLC12A1	Dehydration	HP:0001944
6557	SLC12A1	Fever	HP:0001945
6557	SLC12A1	Polyhydramnios	HP:0001561
6557	SLC12A1	Fetal polyuria	HP:0001563
6557	SLC12A1	Hyperaldosteronism	HP:0000859
6557	SLC12A1	Vomiting	HP:0002013
6557	SLC12A1	Diarrhea	HP:0002014
6557	SLC12A1	Intellectual disability	HP:0001249
6557	SLC12A1	Short stature	HP:0004322
6557	SLC12A1	Seizures	HP:0001250
6557	SLC12A1	Hyperchloriduria	HP:0002914
6557	SLC12A1	Constipation	HP:0002019
6557	SLC12A1	Failure to thrive	HP:0001508
6557	SLC12A1	Hypomagnesemia	HP:0002917
6557	SLC12A1	Chondrocalcinosis	HP:0000934
6557	SLC12A1	Hypercalciuria	HP:0002150
6557	SLC12A1	Polyuria	HP:0000103
6557	SLC12A1	Hypokalemic metabolic alkalosis	HP:0001960
6557	SLC12A1	Hypochloremia	HP:0003113
6557	SLC12A1	Osteopenia	HP:0000938
6557	SLC12A1	Increased serum prostaglandin E2	HP:0003566
6557	SLC12A1	Small for gestational age	HP:0001518
6557	SLC12A1	Renal juxtaglomerular cell hypertrophy/hyperplasia	HP:0000111
6557	SLC12A1	Global developmental delay	HP:0001263
6557	SLC12A1	Nephrocalcinosis	HP:0000121
6557	SLC12A1	Generalized muscle weakness	HP:0003324
6557	SLC12A1	Renal salt wasting	HP:0000127
22943	DKK1	Anteriorly placed odontoid process	HP:0004608
22943	DKK1	Syringomyelia	HP:0003396
22943	DKK1	Recurrent fractures	HP:0002757
22943	DKK1	Vocal cord paralysis	HP:0001605
22943	DKK1	Gait disturbance	HP:0001288
22943	DKK1	Vertebral compression fractures	HP:0002953
22943	DKK1	Abnormality of the eleventh cranial nerve	HP:0010825
22943	DKK1	Abnormality of the twelfth cranial nerve	HP:0010826
22943	DKK1	Small posterior fossa	HP:0040010
22943	DKK1	Diplopia	HP:0000651
22943	DKK1	Cranial nerve compression	HP:0001293
22943	DKK1	Areflexia of upper limbs	HP:0012046
22943	DKK1	Basilar invagination	HP:0012366
22943	DKK1	Brain stem compression	HP:0002512
22943	DKK1	Vertigo	HP:0002321
22943	DKK1	Gait ataxia	HP:0002066
22943	DKK1	Sensory impairment	HP:0003474
22943	DKK1	Increased intracranial pressure	HP:0002516
22943	DKK1	Urinary incontinence	HP:0000020
22943	DKK1	Myelopathy	HP:0002196
22943	DKK1	Progressive cerebellar ataxia	HP:0002073
22943	DKK1	Scoliosis	HP:0002650
22943	DKK1	Lower limb hyperreflexia	HP:0002395
22943	DKK1	Distal peripheral sensory neuropathy	HP:0007067
22943	DKK1	Recurrent paroxysmal headache	HP:0002331
22943	DKK1	Bone pain	HP:0002653
22943	DKK1	Abnormality of the musculature of the lower limbs	HP:0001437
22943	DKK1	Dysphagia	HP:0002015
22943	DKK1	Babinski sign	HP:0003487
22943	DKK1	Photophobia	HP:0000613
22943	DKK1	Adult onset sensorineural hearing impairment	HP:0008615
22943	DKK1	Cranial nerve paralysis	HP:0006824
22943	DKK1	Central sleep apnea	HP:0010536
22943	DKK1	Tinnitus	HP:0000360
22943	DKK1	Stiff neck	HP:0025258
22943	DKK1	Osteoporosis	HP:0000939
22943	DKK1	Neck pain	HP:0030833
22943	DKK1	Fatigable weakness of swallowing muscles	HP:0030195
22943	DKK1	Dysesthesia	HP:0012534
22943	DKK1	Abnormality of the vestibulocochlear nerve	HP:0009591
22943	DKK1	Kyphosis	HP:0002808
22943	DKK1	Cervical C2/C3 vertebral fusion	HP:0004602
22943	DKK1	Arnold-Chiari type I malformation	HP:0007099
22943	DKK1	Abnormality of the clivus	HP:0010558
22943	DKK1	Basilar impression	HP:0005758
22943	DKK1	Nystagmus	HP:0000639
6559	SLC12A3	Renal potassium wasting	HP:0000128
6559	SLC12A3	Tetany	HP:0001281
6559	SLC12A3	Rhabdomyolysis	HP:0003201
6559	SLC12A3	Muscle spasm	HP:0003394
6559	SLC12A3	Salt craving	HP:0030083
6559	SLC12A3	Autosomal recessive inheritance	HP:0000007
6559	SLC12A3	Paresthesia	HP:0003401
6559	SLC12A3	Arthralgia	HP:0002829
6559	SLC12A3	Paralysis	HP:0003470
6559	SLC12A3	Increased circulating renin level	HP:0000848
6559	SLC12A3	Nocturia	HP:0000017
6559	SLC12A3	Vertigo	HP:0002321
6559	SLC12A3	Ventricular tachycardia	HP:0004756
6559	SLC12A3	Hypokalemia	HP:0002900
6559	SLC12A3	Fatigue	HP:0012378
6559	SLC12A3	Hypokalemic alkalosis	HP:0001949
6559	SLC12A3	Vomiting	HP:0002013
6559	SLC12A3	Recurrent fever	HP:0001954
6559	SLC12A3	Seizures	HP:0001250
6559	SLC12A3	Constipation	HP:0002019
6559	SLC12A3	Ataxia	HP:0001251
6559	SLC12A3	Failure to thrive	HP:0001508
6559	SLC12A3	Enuresis	HP:0000805
6559	SLC12A3	Juvenile onset	HP:0003621
6559	SLC12A3	Hypomagnesemia	HP:0002917
6559	SLC12A3	Chondrocalcinosis	HP:0000934
6559	SLC12A3	Polydipsia	HP:0001959
6559	SLC12A3	Polyuria	HP:0000103
6559	SLC12A3	Palpitations	HP:0001962
6559	SLC12A3	Abdominal pain	HP:0002027
6559	SLC12A3	Muscle weakness	HP:0001324
6559	SLC12A3	Blurred vision	HP:0000622
6559	SLC12A3	Hypotension	HP:0002615
6559	SLC12A3	Hypocalciuria	HP:0003127
6559	SLC12A3	Delayed puberty	HP:0000823
6559	SLC12A3	Prolonged QT interval	HP:0001657
6559	SLC12A3	Generalized muscle weakness	HP:0003324
6559	SLC12A3	Renal magnesium wasting	HP:0005567
407975	MIR17HG	Intellectual disability	HP:0001249
407975	MIR17HG	Short thumb	HP:0009778
407975	MIR17HG	Short stature	HP:0004322
407975	MIR17HG	Brachydactyly	HP:0001156
407975	MIR17HG	Autosomal dominant inheritance	HP:0000006
407975	MIR17HG	Short middle phalanx of finger	HP:0005819
407975	MIR17HG	Microcephaly	HP:0000252
55714	TENM3	Microcornea	HP:0000482
55714	TENM3	Iris coloboma	HP:0000612
55714	TENM3	Esotropia	HP:0000565
55714	TENM3	Autosomal recessive inheritance	HP:0000007
55714	TENM3	Microphthalmia	HP:0000568
55714	TENM3	Pendular nystagmus	HP:0012043
55714	TENM3	Retinal detachment	HP:0000541
55714	TENM3	Reduced visual acuity	HP:0007663
22948	CCT5	Abnormality of the foot	HP:0001760
22948	CCT5	Impaired pain sensation	HP:0007328
22948	CCT5	Juvenile onset	HP:0003621
22948	CCT5	Autosomal recessive inheritance	HP:0000007
22948	CCT5	Decreased motor nerve conduction velocity	HP:0003431
22948	CCT5	Distal sensory loss of all modalities	HP:0006984
22948	CCT5	Gait disturbance	HP:0001288
22948	CCT5	Acral ulceration	HP:0006121
22948	CCT5	Infantile onset	HP:0003593
22948	CCT5	Spastic paraplegia	HP:0001258
22948	CCT5	Hypocholesterolemia	HP:0003146
22948	CCT5	Decreased LDL cholesterol concentration	HP:0003563
22948	CCT5	Atrophy of the spinal cord	HP:0006827
22948	CCT5	Abnormal autonomic nervous system physiology	HP:0012332
22948	CCT5	Progressive spastic paraplegia	HP:0007020
22948	CCT5	Distal amyotrophy	HP:0003693
22948	CCT5	Spastic gait	HP:0002064
22948	CCT5	Peripheral axonal neuropathy	HP:0003477
22948	CCT5	Distal sensory impairment	HP:0002936
22948	CCT5	Clonus	HP:0002169
22948	CCT5	Sensory axonal neuropathy	HP:0003390
22948	CCT5	Foot osteomyelitis	HP:0001886
22948	CCT5	Babinski sign	HP:0003487
22948	CCT5	Abnormality of the spinal cord	HP:0002143
55717	WDR11	Ichthyosis	HP:0008064
55717	WDR11	Abnormality of body height	HP:0000002
55717	WDR11	Gynecomastia	HP:0000771
55717	WDR11	Absence of pubertal development	HP:0008197
55717	WDR11	Autosomal dominant inheritance	HP:0000006
55717	WDR11	Female hypogonadism	HP:0000134
55717	WDR11	Autosomal recessive inheritance	HP:0000007
55717	WDR11	Gait disturbance	HP:0001288
55717	WDR11	Hypoplasia of the uterus	HP:0000013
55717	WDR11	Decreased fertility	HP:0000144
55717	WDR11	Primary amenorrhea	HP:0000786
55717	WDR11	Hypoplasia of the ovary	HP:0008724
55717	WDR11	Infertility	HP:0000789
55717	WDR11	Sensorineural hearing impairment	HP:0000407
55717	WDR11	Hypoglycemia	HP:0001943
55717	WDR11	Male hypogonadism	HP:0000026
55717	WDR11	Cryptorchidism	HP:0000028
55717	WDR11	Decreased testicular size	HP:0008734
55717	WDR11	Erectile abnormalities	HP:0100639
55717	WDR11	Hypoplasia of penis	HP:0008736
55717	WDR11	Depressed nasal bridge	HP:0005280
55717	WDR11	Impotence	HP:0000802
55717	WDR11	Abnormality of the dentition	HP:0000164
55717	WDR11	Sparse axillary hair	HP:0002215
55717	WDR11	Color vision defect	HP:0000551
55717	WDR11	Osteopenia	HP:0000938
55717	WDR11	Osteoporosis	HP:0000939
55717	WDR11	Hypogonadotrophic hypogonadism	HP:0000044
55717	WDR11	Muscle weakness	HP:0001324
55717	WDR11	Cleft palate	HP:0000175
55717	WDR11	Sparse pubic hair	HP:0002225
55717	WDR11	Hypothyroidism	HP:0000821
55717	WDR11	Micropenis	HP:0000054
55717	WDR11	Paraplegia	HP:0010550
55717	WDR11	Delayed puberty	HP:0000823
55717	WDR11	Bimanual synkinesia	HP:0001335
55717	WDR11	Sparse body hair	HP:0002231
55717	WDR11	Tremor	HP:0001337
55717	WDR11	Hyposmia	HP:0004409
55717	WDR11	Non-obstructive azoospermia	HP:0011961
55717	WDR11	Hypertelorism	HP:0000316
55717	WDR11	Delayed skeletal maturation	HP:0002750
55717	WDR11	Anterior hypopituitarism	HP:0000830
55717	WDR11	Dyspareunia	HP:0030016
55717	WDR11	Adrenal hypoplasia	HP:0000835
55717	WDR11	Increased female libido	HP:0030019
55717	WDR11	Recurrent fractures	HP:0002757
55717	WDR11	Eunuchoid habitus	HP:0003782
55717	WDR11	Abnormality of the voice	HP:0001608
55717	WDR11	Generalized joint laxity	HP:0002761
55717	WDR11	Anosmia	HP:0000458
55717	WDR11	Reduced number of teeth	HP:0009804
55717	WDR11	Depressivity	HP:0000716
55717	WDR11	Congenital sensorineural hearing impairment	HP:0008527
55717	WDR11	Wide intermamillary distance	HP:0006610
55717	WDR11	Abnormality of cardiovascular system morphology	HP:0030680
55717	WDR11	Skeletal dysplasia	HP:0002652
55717	WDR11	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
55717	WDR11	Pes cavus	HP:0001761
55717	WDR11	Intellectual disability	HP:0001249
55717	WDR11	Camptodactyly	HP:0012385
55717	WDR11	Seizures	HP:0001250
55717	WDR11	Short stature	HP:0004322
55717	WDR11	Ataxia	HP:0001251
55717	WDR11	Pes planus	HP:0001763
55717	WDR11	Anxiety	HP:0000739
55717	WDR11	Muscular hypotonia	HP:0001252
55717	WDR11	Failure to thrive	HP:0001508
55717	WDR11	Secondary amenorrhea	HP:0000869
55717	WDR11	Renal agenesis	HP:0000104
55717	WDR11	Obesity	HP:0001513
55717	WDR11	Diabetes insipidus	HP:0000873
55717	WDR11	Septo-optic dysplasia	HP:0100842
55717	WDR11	Ectopic posterior pituitary	HP:0011755
55717	WDR11	Decreased serum testosterone level	HP:0040171
55717	WDR11	Dysarthria	HP:0001260
55717	WDR11	Global developmental delay	HP:0001263
55717	WDR11	Death in infancy	HP:0001522
55717	WDR11	Breast hypoplasia	HP:0003187
55717	WDR11	Visual impairment	HP:0000505
55717	WDR11	Absence of secondary sex characteristics	HP:0008187
55717	WDR11	Ptosis	HP:0000508
55717	WDR11	Reduced bone mineral density	HP:0004349
55717	WDR11	Nystagmus	HP:0000639
6566	SLC16A1	Feeding difficulties	HP:0011968
6566	SLC16A1	Intellectual disability	HP:0001249
6566	SLC16A1	Elevated serum creatine kinase	HP:0003236
6566	SLC16A1	Autosomal dominant inheritance	HP:0000006
6566	SLC16A1	Exercise-induced muscle stiffness	HP:0008967
6566	SLC16A1	Autosomal recessive inheritance	HP:0000007
6566	SLC16A1	Ketonuria	HP:0002919
6566	SLC16A1	Ketoacidosis	HP:0001993
6566	SLC16A1	Hypoglycemic coma	HP:0001325
6566	SLC16A1	Global developmental delay	HP:0001263
6566	SLC16A1	Heterogeneous	HP:0001425
6566	SLC16A1	Hyperinsulinemic hypoglycemia	HP:0000825
6566	SLC16A1	Exercise-induced muscle fatigue	HP:0009020
6566	SLC16A1	Hypoglycemic seizures	HP:0002173
6566	SLC16A1	Exercise-induced muscle cramps	HP:0003710
6566	SLC16A1	Ketotic hypoglycemia	HP:0012734
6566	SLC16A1	Pancreatic islet-cell hyperplasia	HP:0004510
63910	SLC17A9	Cutaneous photosensitivity	HP:0000992
63910	SLC17A9	Papule	HP:0200034
63910	SLC17A9	Autosomal dominant inheritance	HP:0000006
63910	SLC17A9	Squamous cell carcinoma	HP:0002860
63910	SLC17A9	Pruritus	HP:0000989
63910	SLC17A9	Porokeratosis	HP:0200044
6567	SLC16A2	Athetosis	HP:0002305
6567	SLC16A2	Skeletal muscle atrophy	HP:0003202
6567	SLC16A2	Drooling	HP:0002307
6567	SLC16A2	Underfolded superior helices	HP:0008583
6567	SLC16A2	Proptosis	HP:0000520
6567	SLC16A2	Camptodactyly of finger	HP:0100490
6567	SLC16A2	Prominent antihelix	HP:0000395
6567	SLC16A2	Delayed CNS myelination	HP:0002188
6567	SLC16A2	X-linked dominant inheritance	HP:0001423
6567	SLC16A2	Macrotia	HP:0000400
6567	SLC16A2	Narrow face	HP:0000275
6567	SLC16A2	Urinary incontinence	HP:0000020
6567	SLC16A2	Protruding ear	HP:0000411
6567	SLC16A2	Hallux valgus	HP:0001822
6567	SLC16A2	Babinski sign	HP:0003487
6567	SLC16A2	Abnormal conjugate eye movement	HP:0000549
6567	SLC16A2	Neonatal hypotonia	HP:0001319
6567	SLC16A2	Feeding difficulties in infancy	HP:0008872
6567	SLC16A2	Type I diabetes mellitus	HP:0100651
6567	SLC16A2	Hypoplasia of the musculature	HP:0009004
6567	SLC16A2	Hypoplasia of the zygomatic bone	HP:0010669
6567	SLC16A2	Bilateral single transverse palmar creases	HP:0007598
6567	SLC16A2	Stahl ear	HP:0100015
6567	SLC16A2	Bowel incontinence	HP:0002607
6567	SLC16A2	Rotary nystagmus	HP:0001583
6567	SLC16A2	Hypothyroidism	HP:0000821
6567	SLC16A2	Absent speech	HP:0001344
6567	SLC16A2	Open mouth	HP:0000194
6567	SLC16A2	Hyperreflexia	HP:0001347
6567	SLC16A2	Biparietal narrowing	HP:0004422
6567	SLC16A2	Upslanted palpebral fissure	HP:0000582
6567	SLC16A2	Aphasia	HP:0002381
6567	SLC16A2	Spastic tetraplegia	HP:0002510
6567	SLC16A2	Abnormality of the neck	HP:0000464
6567	SLC16A2	Severe global developmental delay	HP:0011344
6567	SLC16A2	Cerebral calcification	HP:0002514
6567	SLC16A2	Narrow forehead	HP:0000341
6567	SLC16A2	Scoliosis	HP:0002650
6567	SLC16A2	Flexion contracture	HP:0001371
6567	SLC16A2	Irritability	HP:0000737
6567	SLC16A2	Ataxia	HP:0001251
6567	SLC16A2	Pes planus	HP:0001763
6567	SLC16A2	Intellectual disability, progressive	HP:0006887
6567	SLC16A2	Spastic paraplegia	HP:0001258
6567	SLC16A2	Joint stiffness	HP:0001387
6567	SLC16A2	Inability to walk	HP:0002540
6567	SLC16A2	Dysarthria	HP:0001260
6567	SLC16A2	Increased thyroid-stimulating hormone level	HP:0002925
6567	SLC16A2	Leukodystrophy	HP:0002415
6567	SLC16A2	Intellectual disability, severe	HP:0010864
6567	SLC16A2	Generalized amyotrophy	HP:0003700
6567	SLC16A2	Clonus	HP:0002169
6567	SLC16A2	Congenital onset	HP:0003577
6567	SLC16A2	Ptosis	HP:0000508
6567	SLC16A2	Microcephaly	HP:0000252
6567	SLC16A2	Pectus excavatum	HP:0000767
6569	SLC34A1	Hypercalcemia	HP:0003072
6569	SLC34A1	Short stature	HP:0004322
6569	SLC34A1	Increased susceptibility to fractures	HP:0002659
6569	SLC34A1	Hypophosphatemia	HP:0002148
6569	SLC34A1	Glycosuria	HP:0003076
6569	SLC34A1	Muscular hypotonia	HP:0001252
6569	SLC34A1	Failure to thrive	HP:0001508
6569	SLC34A1	Hyperphosphaturia	HP:0003109
6569	SLC34A1	Hypercalciuria	HP:0002150
6569	SLC34A1	Autosomal dominant inheritance	HP:0000006
6569	SLC34A1	Autosomal recessive inheritance	HP:0000007
6569	SLC34A1	Polyuria	HP:0000103
6569	SLC34A1	Osteopenia	HP:0000938
6569	SLC34A1	Osteoporosis	HP:0000939
6569	SLC34A1	Muscle weakness	HP:0001324
6569	SLC34A1	Elevated alkaline phosphatase of bone origin	HP:0010639
6569	SLC34A1	Proximal tubulopathy	HP:0000114
6569	SLC34A1	Renal insufficiency	HP:0000083
6569	SLC34A1	Nephrolithiasis	HP:0000787
6569	SLC34A1	Renal phosphate wasting	HP:0000117
6569	SLC34A1	Medullary nephrocalcinosis	HP:0012408
6569	SLC34A1	Rickets	HP:0002748
6569	SLC34A1	Generalized aminoaciduria	HP:0002909
22953	P2RX2	Autosomal dominant inheritance	HP:0000006
22953	P2RX2	Progressive sensorineural hearing impairment	HP:0000408
22953	P2RX2	Tinnitus	HP:0000360
22953	P2RX2	Hearing impairment	HP:0000365
22954	TRIM32	Abnormal electroretinogram	HP:0000512
22954	TRIM32	EMG abnormality	HP:0003457
22954	TRIM32	EMG: myopathic abnormalities	HP:0003458
22954	TRIM32	Skeletal muscle atrophy	HP:0003202
22954	TRIM32	Multicystic kidney dysplasia	HP:0000003
22954	TRIM32	Areflexia	HP:0001284
22954	TRIM32	Facial palsy	HP:0010628
22954	TRIM32	Autosomal recessive inheritance	HP:0000007
22954	TRIM32	Hypogonadism	HP:0000135
22954	TRIM32	Neck flexor weakness	HP:0003722
22954	TRIM32	Postaxial hand polydactyly	HP:0001162
22954	TRIM32	Shoulder girdle muscle atrophy	HP:0003724
22954	TRIM32	Quadriceps muscle weakness	HP:0003731
22954	TRIM32	Hypoplasia of the ovary	HP:0008724
22954	TRIM32	Exercise-induced myalgia	HP:0003738
22954	TRIM32	Pelvic girdle muscle atrophy	HP:0008988
22954	TRIM32	Cryptorchidism	HP:0000028
22954	TRIM32	Hypoplasia of penis	HP:0008736
22954	TRIM32	Proximal muscle weakness in lower limbs	HP:0008994
22954	TRIM32	Elevated serum creatine kinase	HP:0003236
22954	TRIM32	Pelvic girdle muscle weakness	HP:0003749
22954	TRIM32	Mask-like facies	HP:0000298
22954	TRIM32	Prominent nasal bridge	HP:0000426
22954	TRIM32	Hypertension	HP:0000822
22954	TRIM32	Generalized hirsutism	HP:0002230
22954	TRIM32	Gowers sign	HP:0003391
22954	TRIM32	Pigmentary retinopathy	HP:0000580
22954	TRIM32	Polydactyly	HP:0010442
22954	TRIM32	Abnormality of the kidney	HP:0000077
22954	TRIM32	Waddling gait	HP:0002515
22954	TRIM32	Finger syndactyly	HP:0006101
22954	TRIM32	Short neck	HP:0000470
22954	TRIM32	Shoulder girdle muscle weakness	HP:0003547
22954	TRIM32	Slow progression	HP:0003677
22954	TRIM32	Intellectual disability	HP:0001249
22954	TRIM32	Tall stature	HP:0000098
22954	TRIM32	Short stature	HP:0004322
22954	TRIM32	Nephrotic syndrome	HP:0000100
22954	TRIM32	Increased variability in muscle fiber diameter	HP:0003557
22954	TRIM32	Centrally nucleated skeletal muscle fibers	HP:0003687
22954	TRIM32	Retinopathy	HP:0000488
22954	TRIM32	Muscular dystrophy	HP:0003560
22954	TRIM32	Obesity	HP:0001513
22954	TRIM32	Hearing impairment	HP:0000365
22954	TRIM32	Downslanted palpebral fissures	HP:0000494
22954	TRIM32	Low-set, posteriorly rotated ears	HP:0000368
22954	TRIM32	Hyporeflexia	HP:0001265
22954	TRIM32	Hepatic fibrosis	HP:0001395
22954	TRIM32	Neurological speech impairment	HP:0002167
22954	TRIM32	Calf muscle pseudohypertrophy	HP:0003707
22954	TRIM32	Medial flaring of the eyebrow	HP:0010747
22954	TRIM32	Myopathy	HP:0003198
22954	TRIM32	Nystagmus	HP:0000639
6571	SLC18A2	Delayed ability to walk	HP:0031936
6571	SLC18A2	Stridor	HP:0010307
6571	SLC18A2	Hyperreflexia	HP:0001347
6571	SLC18A2	Spastic tetraparesis	HP:0001285
6571	SLC18A2	Orofacial dyskinesia	HP:0002310
6571	SLC18A2	Inappropriate crying	HP:0030215
6571	SLC18A2	Incoordination	HP:0002311
6571	SLC18A2	Infantile onset	HP:0003593
6571	SLC18A2	Generalized hypotonia	HP:0001290
6571	SLC18A2	Nasal speech	HP:0001611
6571	SLC18A2	Hyperhidrosis	HP:0000975
6571	SLC18A2	Hypomimic face	HP:0000338
6571	SLC18A2	Gait ataxia	HP:0002066
6571	SLC18A2	Limb dystonia	HP:0002451
6571	SLC18A2	Parkinsonism	HP:0001300
6571	SLC18A2	Fatigue	HP:0012378
6571	SLC18A2	Dysdiadochokinesis	HP:0002075
6571	SLC18A2	Abnormality of the foot	HP:0001760
6571	SLC18A2	Abnormality of the vasculature	HP:0002597
6571	SLC18A2	Muscular hypotonia of the trunk	HP:0008936
6571	SLC18A2	Dysarthria	HP:0001260
6571	SLC18A2	Postnatal microcephaly	HP:0005484
6571	SLC18A2	Abnormal autonomic nervous system physiology	HP:0012332
6571	SLC18A2	Global developmental delay	HP:0001263
6571	SLC18A2	Abnormality of eye movement	HP:0000496
6571	SLC18A2	Poor head control	HP:0002421
6571	SLC18A2	Sleep disturbance	HP:0002360
6571	SLC18A2	Tremor	HP:0001337
6571	SLC18A2	Oculogyric crisis	HP:0010553
6571	SLC18A2	Shuffling gait	HP:0002362
6571	SLC18A2	Stooped posture	HP:0025403
6571	SLC18A2	Ptosis	HP:0000508
6571	SLC18A2	Cognitive impairment	HP:0100543
63916	ELMO2	Umbilical hernia	HP:0001537
63916	ELMO2	Hyperkeratosis	HP:0000962
63916	ELMO2	Diastasis recti	HP:0001540
63916	ELMO2	Facial asymmetry	HP:0000324
63916	ELMO2	Autosomal recessive inheritance	HP:0000007
63916	ELMO2	Proptosis	HP:0000520
63916	ELMO2	Abnormal anterior chamber morphology	HP:0000593
63916	ELMO2	Elevated alkaline phosphatase	HP:0003155
63916	ELMO2	Increased intracranial pressure	HP:0002516
63916	ELMO2	Conductive hearing impairment	HP:0000405
63916	ELMO2	Sensorineural hearing impairment	HP:0000407
63916	ELMO2	Abnormality of retinal pigmentation	HP:0007703
63916	ELMO2	Gingival bleeding	HP:0000225
63916	ELMO2	Intellectual disability	HP:0001249
63916	ELMO2	Supraumbilical raphe	HP:0410276
63916	ELMO2	Seizures	HP:0001250
63916	ELMO2	Failure to thrive	HP:0001508
63916	ELMO2	Full cheeks	HP:0000293
63916	ELMO2	Telangiectasia of the skin	HP:0100585
63916	ELMO2	Gingival fibromatosis	HP:0000169
63916	ELMO2	Abnormality of dental enamel	HP:0000682
63916	ELMO2	Delayed eruption of teeth	HP:0000684
63916	ELMO2	Osteolysis	HP:0002797
63916	ELMO2	Diabetes mellitus	HP:0000819
63916	ELMO2	Generalized hirsutism	HP:0002230
63916	ELMO2	Visual loss	HP:0000572
63916	ELMO2	Narrow palate	HP:0000189
6572	SLC18A3	Pectus carinatum	HP:0000768
6572	SLC18A3	Narrow jaw	HP:0012801
6572	SLC18A3	EMG: myopathic abnormalities	HP:0003458
6572	SLC18A3	Bulbar palsy	HP:0001283
6572	SLC18A3	Areflexia	HP:0001284
6572	SLC18A3	Facial palsy	HP:0010628
6572	SLC18A3	Central hypotonia	HP:0011398
6572	SLC18A3	Autosomal recessive inheritance	HP:0000007
6572	SLC18A3	Motor polyneuropathy	HP:0007178
6572	SLC18A3	Generalized hypotonia	HP:0001290
6572	SLC18A3	Diplopia	HP:0000651
6572	SLC18A3	Fatigable weakness	HP:0003473
6572	SLC18A3	Toe walking	HP:0040083
6572	SLC18A3	Long face	HP:0000276
6572	SLC18A3	Episodic respiratory distress	HP:0004885
6572	SLC18A3	Decreased fetal movement	HP:0001558
6572	SLC18A3	Sensorineural hearing impairment	HP:0000407
6572	SLC18A3	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
6572	SLC18A3	Polyhydramnios	HP:0001561
6572	SLC18A3	Recurrent respiratory infections	HP:0002205
6572	SLC18A3	Central sleep apnea	HP:0010536
6572	SLC18A3	Respiratory insufficiency	HP:0002093
6572	SLC18A3	Difficulty walking	HP:0002355
6572	SLC18A3	Microretrognathia	HP:0000308
6572	SLC18A3	Esotropia	HP:0000565
6572	SLC18A3	Frontalis muscle weakness	HP:0004661
6572	SLC18A3	Obstructive sleep apnea	HP:0002870
6572	SLC18A3	Respiratory arrest	HP:0005943
6572	SLC18A3	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
6572	SLC18A3	Apnea	HP:0002104
6572	SLC18A3	Staring gaze	HP:0025401
6572	SLC18A3	Easy fatigability	HP:0003388
6572	SLC18A3	EMG: impaired neuromuscular transmission	HP:0100285
6572	SLC18A3	Kyphoscoliosis	HP:0002751
6572	SLC18A3	Feeding difficulties	HP:0011968
6572	SLC18A3	Cyanosis	HP:0000961
6572	SLC18A3	Sudden episodic apnea	HP:0002882
6572	SLC18A3	Stridor	HP:0010307
6572	SLC18A3	Muscle fiber atrophy	HP:0100295
6572	SLC18A3	Nasal speech	HP:0001611
6572	SLC18A3	Weak cry	HP:0001612
6572	SLC18A3	Nasal regurgitation	HP:0011469
6572	SLC18A3	Dysphonia	HP:0001618
6572	SLC18A3	Neck muscle weakness	HP:0000467
6572	SLC18A3	Waddling gait	HP:0002515
6572	SLC18A3	EEG with polyspike wave complexes	HP:0002392
6572	SLC18A3	High palate	HP:0000218
6572	SLC18A3	Ophthalmoplegia	HP:0000602
6572	SLC18A3	Exercise intolerance	HP:0003546
6572	SLC18A3	Fatigue	HP:0012378
6572	SLC18A3	Distal lower limb muscle weakness	HP:0009053
6572	SLC18A3	Congenital hip dislocation	HP:0001374
6572	SLC18A3	Dysphagia	HP:0002015
6572	SLC18A3	Pes cavus	HP:0001761
6572	SLC18A3	Intellectual disability	HP:0001249
6572	SLC18A3	Seizures	HP:0001250
6572	SLC18A3	Ataxia	HP:0001251
6572	SLC18A3	Gastroesophageal reflux	HP:0002020
6572	SLC18A3	Spinal rigidity	HP:0003306
6572	SLC18A3	Joint laxity	HP:0001388
6572	SLC18A3	Knee flexion contracture	HP:0006380
6572	SLC18A3	Distal amyotrophy	HP:0003693
6572	SLC18A3	Low-set ears	HP:0000369
6572	SLC18A3	Poor suck	HP:0002033
6572	SLC18A3	Hyporeflexia	HP:0001265
6572	SLC18A3	Arthrogryposis multiplex congenita	HP:0002804
6572	SLC18A3	Proximal muscle weakness	HP:0003701
6572	SLC18A3	Poor head control	HP:0002421
6572	SLC18A3	Motor delay	HP:0001270
6572	SLC18A3	Choking episodes	HP:0030842
6572	SLC18A3	Spinal deformities	HP:0008443
6572	SLC18A3	Generalized muscle weakness	HP:0003324
6572	SLC18A3	Ptosis	HP:0000508
6572	SLC18A3	Limb-girdle muscle weakness	HP:0003325
6572	SLC18A3	Nystagmus	HP:0000639
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	Urinary incontinence	HP:0000020
6575	SLC20A2	Parkinsonism	HP:0001300
6575	SLC20A2	Corneal opacity	HP:0007957
6575	SLC20A2	Basal ganglia calcification	HP:0002135
6575	SLC20A2	Chorea	HP:0002072
6575	SLC20A2	Abnormal pyramidal sign	HP:0007256
6575	SLC20A2	Dysdiadochokinesis	HP:0002075
6575	SLC20A2	Progressive	HP:0003676
6575	SLC20A2	Abnormality of neuronal migration	HP:0002269
6575	SLC20A2	Dense calcifications in the cerebellar dentate nucleus	HP:0002461
6575	SLC20A2	Seizures	HP:0001250
6575	SLC20A2	Micrographia	HP:0031908
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	Microcephaly	HP:0000252
6575	SLC20A2	Postural instability	HP:0002172
6575	SLC20A2	Adult onset	HP:0003581
6576	SLC25A1	Pectus carinatum	HP:0000768
6576	SLC25A1	Macrocephaly	HP:0000256
6576	SLC25A1	Narrow jaw	HP:0012801
6576	SLC25A1	EMG: myopathic abnormalities	HP:0003458
6576	SLC25A1	Bulbar palsy	HP:0001283
6576	SLC25A1	Areflexia	HP:0001284
6576	SLC25A1	Central hypotonia	HP:0011398
6576	SLC25A1	Autosomal recessive inheritance	HP:0000007
6576	SLC25A1	Motor polyneuropathy	HP:0007178
6576	SLC25A1	Diplopia	HP:0000651
6576	SLC25A1	Fatigable weakness	HP:0003473
6576	SLC25A1	Encephalopathy	HP:0001298
6576	SLC25A1	Toe walking	HP:0040083
6576	SLC25A1	Long face	HP:0000276
6576	SLC25A1	Episodic respiratory distress	HP:0004885
6576	SLC25A1	Calf muscle hypertrophy	HP:0008981
6576	SLC25A1	Decreased fetal movement	HP:0001558
6576	SLC25A1	Sensorineural hearing impairment	HP:0000407
6576	SLC25A1	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
6576	SLC25A1	Polyhydramnios	HP:0001561
6576	SLC25A1	Recurrent respiratory infections	HP:0002205
6576	SLC25A1	Delayed myelination	HP:0012448
6576	SLC25A1	Central sleep apnea	HP:0010536
6576	SLC25A1	Cerebellar hypoplasia	HP:0001321
6576	SLC25A1	Muscle weakness	HP:0001324
6576	SLC25A1	Severe muscular hypotonia	HP:0006829
6576	SLC25A1	Respiratory insufficiency	HP:0002093
6576	SLC25A1	Dyspnea	HP:0002094
6576	SLC25A1	Poor eye contact	HP:0000817
6576	SLC25A1	Difficulty walking	HP:0002355
6576	SLC25A1	Microretrognathia	HP:0000308
6576	SLC25A1	Esotropia	HP:0000565
6576	SLC25A1	Frontalis muscle weakness	HP:0004661
6576	SLC25A1	Obstructive sleep apnea	HP:0002870
6576	SLC25A1	Respiratory arrest	HP:0005943
6576	SLC25A1	Frequent falls	HP:0002359
6576	SLC25A1	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
6576	SLC25A1	Staring gaze	HP:0025401
6576	SLC25A1	Easy fatigability	HP:0003388
6576	SLC25A1	EMG: impaired neuromuscular transmission	HP:0100285
6576	SLC25A1	Kyphoscoliosis	HP:0002751
6576	SLC25A1	Feeding difficulties	HP:0011968
6576	SLC25A1	Hepatomegaly	HP:0002240
6576	SLC25A1	Delayed ability to walk	HP:0031936
6576	SLC25A1	Cyanosis	HP:0000961
6576	SLC25A1	Sudden episodic apnea	HP:0002882
6576	SLC25A1	Stridor	HP:0010307
6576	SLC25A1	Muscle fiber atrophy	HP:0100295
6576	SLC25A1	Ventriculomegaly	HP:0002119
6576	SLC25A1	Nasal speech	HP:0001611
6576	SLC25A1	Weak cry	HP:0001612
6576	SLC25A1	Nasal regurgitation	HP:0011469
6576	SLC25A1	L-2-hydroxyglutaric aciduria	HP:0040144
6576	SLC25A1	Dysphonia	HP:0001618
6576	SLC25A1	Neck muscle weakness	HP:0000467
6576	SLC25A1	Waddling gait	HP:0002515
6576	SLC25A1	EEG with polyspike wave complexes	HP:0002392
6576	SLC25A1	High palate	HP:0000218
6576	SLC25A1	Ophthalmoplegia	HP:0000602
6576	SLC25A1	Distal lower limb muscle weakness	HP:0009053
6576	SLC25A1	Congenital hip dislocation	HP:0001374
6576	SLC25A1	Dysphagia	HP:0002015
6576	SLC25A1	Pes cavus	HP:0001761
6576	SLC25A1	Intellectual disability	HP:0001249
6576	SLC25A1	Cerebral visual impairment	HP:0100704
6576	SLC25A1	Irritability	HP:0000737
6576	SLC25A1	Seizures	HP:0001250
6576	SLC25A1	Ataxia	HP:0001251
6576	SLC25A1	Gastroesophageal reflux	HP:0002020
6576	SLC25A1	Spinal rigidity	HP:0003306
6576	SLC25A1	Joint laxity	HP:0001388
6576	SLC25A1	Distal amyotrophy	HP:0003693
6576	SLC25A1	Global developmental delay	HP:0001263
6576	SLC25A1	Low-set ears	HP:0000369
6576	SLC25A1	Poor suck	HP:0002033
6576	SLC25A1	Hyporeflexia	HP:0001265
6576	SLC25A1	Arthrogryposis multiplex congenita	HP:0002804
6576	SLC25A1	Proximal muscle weakness	HP:0003701
6576	SLC25A1	Poor head control	HP:0002421
6576	SLC25A1	Motor delay	HP:0001270
6576	SLC25A1	Choking episodes	HP:0030842
6576	SLC25A1	Spinal deformities	HP:0008443
6576	SLC25A1	Generalized muscle weakness	HP:0003324
6576	SLC25A1	Ptosis	HP:0000508
6576	SLC25A1	Microcephaly	HP:0000252
6576	SLC25A1	Limb-girdle muscle weakness	HP:0003325
6576	SLC25A1	Nystagmus	HP:0000639
6578	SLCO2A1	Hepatomegaly	HP:0002240
6578	SLCO2A1	Clubbing	HP:0001217
6578	SLCO2A1	Osteomyelitis	HP:0002754
6578	SLCO2A1	Gynecomastia	HP:0000771
6578	SLCO2A1	Avascular necrosis	HP:0010885
6578	SLCO2A1	Neoplasm of the skin	HP:0008069
6578	SLCO2A1	Autosomal recessive inheritance	HP:0000007
6578	SLCO2A1	Arthralgia	HP:0002829
6578	SLCO2A1	Growth hormone excess	HP:0000845
6578	SLCO2A1	Impaired temperature sensation	HP:0010829
6578	SLCO2A1	Hyperhidrosis	HP:0000975
6578	SLCO2A1	Abnormal fingernail morphology	HP:0001231
6578	SLCO2A1	Eczematoid dermatitis	HP:0000976
6578	SLCO2A1	Splenomegaly	HP:0001744
6578	SLCO2A1	Palmoplantar keratoderma	HP:0000982
6578	SLCO2A1	Coarse facial features	HP:0000280
6578	SLCO2A1	Arthritis	HP:0001369
6578	SLCO2A1	Clubbing of toes	HP:0100760
6578	SLCO2A1	Genu varum	HP:0002970
6578	SLCO2A1	Scoliosis	HP:0002650
6578	SLCO2A1	Seborrheic dermatitis	HP:0001051
6578	SLCO2A1	Bone pain	HP:0002653
6578	SLCO2A1	Abnormal cortical bone morphology	HP:0003103
6578	SLCO2A1	Abnormal hair pattern	HP:0010720
6578	SLCO2A1	Limitation of joint mobility	HP:0001376
6578	SLCO2A1	Abnormal hair quantity	HP:0011362
6578	SLCO2A1	Acne	HP:0001061
6578	SLCO2A1	Hyperostosis	HP:0100774
6578	SLCO2A1	Malabsorption	HP:0002024
6578	SLCO2A1	Periostosis	HP:0030314
6578	SLCO2A1	Joint swelling	HP:0001386
6578	SLCO2A1	Abnormality of epiphysis morphology	HP:0005930
6578	SLCO2A1	Osteoporosis	HP:0000939
6578	SLCO2A1	Osteolysis	HP:0002797
6578	SLCO2A1	Cutis gyrata of scalp	HP:0010541
6578	SLCO2A1	Peptic ulcer	HP:0004398
6578	SLCO2A1	Anemia	HP:0001903
6578	SLCO2A1	Neoplasm of the lung	HP:0100526
6578	SLCO2A1	Cerebral palsy	HP:0100021
6578	SLCO2A1	Small hand	HP:0200055
6578	SLCO2A1	Abnormality of bone marrow cell morphology	HP:0005561
6578	SLCO2A1	Ptosis	HP:0000508
6578	SLCO2A1	Gastrointestinal hemorrhage	HP:0002239
63924	CIDEC	Hepatomegaly	HP:0002240
63924	CIDEC	Lipodystrophy	HP:0009125
63924	CIDEC	Pancreatitis	HP:0001733
63924	CIDEC	Autosomal recessive inheritance	HP:0000007
63924	CIDEC	Hypertriglyceridemia	HP:0002155
63924	CIDEC	Oligomenorrhea	HP:0000876
63924	CIDEC	Marked muscular hypertrophy	HP:0009042
63924	CIDEC	Polycystic ovaries	HP:0000147
63924	CIDEC	Loss of subcutaneous adipose tissue in limbs	HP:0003635
63924	CIDEC	Calf muscle hypertrophy	HP:0008981
63924	CIDEC	Hepatic steatosis	HP:0001397
63924	CIDEC	Loss of gluteal subcutaneous adipose tissue	HP:0009017
63924	CIDEC	Decreased serum leptin	HP:0003292
63924	CIDEC	Acanthosis nigricans	HP:0000956
63924	CIDEC	Decreased adiponectin level	HP:0030685
63924	CIDEC	Insulin-resistant diabetes mellitus	HP:0000831
63925	ZNF335	Delayed myelination	HP:0012448
63925	ZNF335	Profound global developmental delay	HP:0012736
63925	ZNF335	Choanal atresia	HP:0000453
63925	ZNF335	Abnormal cerebellum morphology	HP:0001317
63925	ZNF335	Cataract	HP:0000518
63925	ZNF335	Intrauterine growth retardation	HP:0001511
63925	ZNF335	Autosomal recessive inheritance	HP:0000007
63925	ZNF335	Ventriculomegaly	HP:0002119
63925	ZNF335	Small cerebral cortex	HP:0002472
63925	ZNF335	Spasticity	HP:0001257
63925	ZNF335	Prominent nasal bridge	HP:0000426
63925	ZNF335	Cerebral atrophy	HP:0002059
63925	ZNF335	Small for gestational age	HP:0001518
63925	ZNF335	Severe global developmental delay	HP:0011344
63925	ZNF335	Sloping forehead	HP:0000340
63925	ZNF335	Arthrogryposis multiplex congenita	HP:0002804
63925	ZNF335	Abnormal neuron morphology	HP:0012757
63925	ZNF335	Simplified gyral pattern	HP:0009879
63925	ZNF335	Cerebellar atrophy	HP:0001272
63925	ZNF335	Congenital onset	HP:0003577
63925	ZNF335	Gliosis	HP:0002171
63925	ZNF335	Micrognathia	HP:0000347
63925	ZNF335	Microcephaly	HP:0000252
63925	ZNF335	Brain atrophy	HP:0012444
80308	FLAD1	Feeding difficulties	HP:0011968
80308	FLAD1	Fatty replacement of skeletal muscle	HP:0012548
80308	FLAD1	Elevated serum creatine kinase	HP:0003236
80308	FLAD1	Cardiomyopathy	HP:0001638
80308	FLAD1	Autosomal recessive inheritance	HP:0000007
80308	FLAD1	Organic aciduria	HP:0001992
80308	FLAD1	Generalized hypotonia	HP:0001290
80308	FLAD1	Respiratory insufficiency	HP:0002093
80308	FLAD1	Supraventricular tachycardia	HP:0004755
80308	FLAD1	Proximal muscle weakness	HP:0003701
80308	FLAD1	Scoliosis	HP:0002650
80308	FLAD1	Exercise intolerance	HP:0003546
80308	FLAD1	Myopathy	HP:0003198
80308	FLAD1	Dysphagia	HP:0002015
55733	HHAT	Intellectual disability	HP:0001249
55733	HHAT	Short metacarpal	HP:0010049
55733	HHAT	Abnormality of the shoulder	HP:0003043
55733	HHAT	Blepharophimosis	HP:0000581
55733	HHAT	Male pseudohermaphroditism	HP:0000037
55733	HHAT	Narrow chest	HP:0000774
55733	HHAT	Strabismus	HP:0000486
55733	HHAT	Intrauterine growth retardation	HP:0001511
55733	HHAT	Micromelia	HP:0002983
55733	HHAT	Miosis	HP:0000616
55733	HHAT	Deeply set eye	HP:0000490
55733	HHAT	Increased skull ossification	HP:0004330
55733	HHAT	Short phalanx of finger	HP:0009803
55733	HHAT	Macrotia	HP:0000400
55733	HHAT	Abnormality of pelvic girdle bone morphology	HP:0002644
55733	HHAT	Severe short stature	HP:0003510
55733	HHAT	Broad long bones	HP:0005622
55733	HHAT	Chorioretinal coloboma	HP:0000567
55733	HHAT	Cerebral hypoplasia	HP:0006872
55733	HHAT	Telecanthus	HP:0000506
55733	HHAT	Microcephaly	HP:0000252
55733	HHAT	Hypoplasia of the iris	HP:0007676
80311	KLHL15	Absent speech	HP:0001344
80311	KLHL15	Intellectual disability	HP:0001249
80311	KLHL15	Seizures	HP:0001250
80311	KLHL15	Micropenis	HP:0000054
80311	KLHL15	Ventriculomegaly	HP:0002119
80311	KLHL15	Coarse facial features	HP:0000280
80311	KLHL15	Wide mouth	HP:0000154
80311	KLHL15	X-linked recessive inheritance	HP:0001419
80311	KLHL15	Cryptorchidism	HP:0000028
80311	KLHL15	Polymicrogyria	HP:0002126
80311	KLHL15	Global developmental delay	HP:0001263
80311	KLHL15	Anteverted nares	HP:0000463
6584	SLC22A5	Hepatomegaly	HP:0002240
6584	SLC22A5	Hyperammonemia	HP:0001987
6584	SLC22A5	Recurrent hypoglycemia	HP:0001988
6584	SLC22A5	Decreased carnitine level in liver	HP:0045061
6584	SLC22A5	Autosomal recessive inheritance	HP:0000007
6584	SLC22A5	Impaired gluconeogenesis	HP:0005959
6584	SLC22A5	Clumsiness	HP:0002312
6584	SLC22A5	Confusion	HP:0001289
6584	SLC22A5	Generalized hypotonia	HP:0001290
6584	SLC22A5	Encephalopathy	HP:0001298
6584	SLC22A5	Neck muscle weakness	HP:0000467
6584	SLC22A5	Hypoglycemia	HP:0001943
6584	SLC22A5	Reduced muscle carnitine level	HP:0030362
6584	SLC22A5	Vomiting	HP:0002013
6584	SLC22A5	Elevated hepatic transaminase	HP:0002910
6584	SLC22A5	Decreased plasma carnitine	HP:0003234
6584	SLC22A5	Congestive heart failure	HP:0001635
6584	SLC22A5	Muscular hypotonia	HP:0001252
6584	SLC22A5	Failure to thrive	HP:0001508
6584	SLC22A5	Generalized tonic-clonic seizures with focal onset	HP:0007334
6584	SLC22A5	Lethargy	HP:0001254
6584	SLC22A5	Hypertrophic cardiomyopathy	HP:0001639
6584	SLC22A5	Cardiomegaly	HP:0001640
6584	SLC22A5	Endocardial fibroelastosis	HP:0001706
6584	SLC22A5	Coma	HP:0001259
6584	SLC22A5	Muscle weakness	HP:0001324
6584	SLC22A5	Excessive daytime somnolence	HP:0001262
6584	SLC22A5	Hepatic steatosis	HP:0001397
6584	SLC22A5	Acute encephalopathy	HP:0006846
6584	SLC22A5	Myopathy	HP:0003198
55737	VPS35	Akinesia	HP:0002304
55737	VPS35	Muscle spasm	HP:0003394
55737	VPS35	Cerebral cortical atrophy	HP:0002120
55737	VPS35	Agitation	HP:0000713
55737	VPS35	Monotonic speech	HP:0031435
55737	VPS35	Diplopia	HP:0000651
55737	VPS35	Depressivity	HP:0000716
55737	VPS35	Rigidity	HP:0002063
55737	VPS35	Schizophrenia	HP:0100753
55737	VPS35	Resting tremor	HP:0002322
55737	VPS35	Hypomimic face	HP:0000338
55737	VPS35	Bradykinesia	HP:0002067
55737	VPS35	Dementia	HP:0000726
55737	VPS35	Lewy bodies	HP:0100315
55737	VPS35	Spastic/hyperactive bladder	HP:0005340
55737	VPS35	Dysphagia	HP:0002015
55737	VPS35	Weight loss	HP:0001824
55737	VPS35	Chronic constipation	HP:0012450
55737	VPS35	Apathy	HP:0000741
55737	VPS35	Impulsivity	HP:0100710
55737	VPS35	Low frustration tolerance	HP:0000744
55737	VPS35	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
55737	VPS35	Dystonia	HP:0001332
55737	VPS35	Dyskinesia	HP:0100660
55737	VPS35	Frequent falls	HP:0002359
55737	VPS35	Sleep disturbance	HP:0002360
55737	VPS35	Hyposmia	HP:0004409
55737	VPS35	Shuffling gait	HP:0002362
55737	VPS35	Gliosis	HP:0002171
55737	VPS35	Postural instability	HP:0002172
55737	VPS35	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
55737	VPS35	Visual hallucinations	HP:0002367
63929	XPNPEP3	Intellectual disability	HP:0001249
63929	XPNPEP3	Seizures	HP:0001250
63929	XPNPEP3	Autosomal recessive inheritance	HP:0000007
63929	XPNPEP3	Chronic pancreatitis	HP:0006280
63929	XPNPEP3	Pancreatic cysts	HP:0001737
63929	XPNPEP3	Kinetic tremor	HP:0030186
63929	XPNPEP3	Renal corticomedullary cysts	HP:0000108
63929	XPNPEP3	Tubular basement membrane disintegration	HP:0005583
63929	XPNPEP3	Hypertension	HP:0000822
63929	XPNPEP3	Sensorineural hearing impairment	HP:0000407
63929	XPNPEP3	Nephronophthisis	HP:0000090
63929	XPNPEP3	Tubular atrophy	HP:0000092
63929	XPNPEP3	Stage 5 chronic kidney disease	HP:0003774
63929	XPNPEP3	Arachnoid cyst	HP:0100702
63932	CXORF56	Hyperactivity	HP:0000752
63932	CXORF56	Macrotia	HP:0000400
63932	CXORF56	Intellectual disability	HP:0001249
63932	CXORF56	Narrow face	HP:0000275
63932	CXORF56	Long face	HP:0000276
63932	CXORF56	Autistic behavior	HP:0000729
63932	CXORF56	Smooth philtrum	HP:0000319
63932	CXORF56	Mandibular prognathia	HP:0000303
63932	CXORF56	Global developmental delay	HP:0001263
6591	SNAI2	Neoplasm of the skin	HP:0008069
6591	SNAI2	Autosomal dominant inheritance	HP:0000006
6591	SNAI2	Autosomal recessive inheritance	HP:0000007
6591	SNAI2	Aganglionic megacolon	HP:0002251
6591	SNAI2	Heterochromia iridis	HP:0001100
6591	SNAI2	Abnormality of the kidney	HP:0000077
6591	SNAI2	Congenital sensorineural hearing impairment	HP:0008527
6591	SNAI2	Heterogeneous	HP:0001425
6591	SNAI2	Partial albinism	HP:0007443
6591	SNAI2	Abnormality of the ear	HP:0000598
6591	SNAI2	Long philtrum	HP:0000343
6591	SNAI2	Sensorineural hearing impairment	HP:0000407
6591	SNAI2	Synophrys	HP:0000664
6591	SNAI2	Abnormality of calvarial morphology	HP:0002648
6591	SNAI2	Hypopigmented skin patches	HP:0001053
6591	SNAI2	Intellectual disability	HP:0001249
6591	SNAI2	White forelock	HP:0002211
6591	SNAI2	Ataxia	HP:0001251
6591	SNAI2	Muscular hypotonia	HP:0001252
6591	SNAI2	Neoplasm	HP:0002664
6591	SNAI2	Premature graying of hair	HP:0002216
6591	SNAI2	Hearing impairment	HP:0000365
6591	SNAI2	Wide nasal bridge	HP:0000431
6591	SNAI2	White eyebrow	HP:0002226
6591	SNAI2	White eyelashes	HP:0002227
6591	SNAI2	Absent pigmentation of the ventral chest	HP:0007542
6591	SNAI2	Piebaldism	HP:0007544
6591	SNAI2	Telecanthus	HP:0000506
6591	SNAI2	Microcephaly	HP:0000252
6591	SNAI2	Ptosis	HP:0000508
6591	SNAI2	Macule	HP:0012733
6591	SNAI2	Abnormality of the pulmonary artery	HP:0004414
22978	NT5C2	Intellectual disability	HP:0001249
22978	NT5C2	Myopia	HP:0000545
22978	NT5C2	Ankle contracture	HP:0006466
22978	NT5C2	Talipes equinovarus	HP:0001762
22978	NT5C2	Hyperreflexia	HP:0001347
22978	NT5C2	Flexion contracture of toe	HP:0005830
22978	NT5C2	Autosomal recessive inheritance	HP:0000007
22978	NT5C2	Optic atrophy	HP:0000648
22978	NT5C2	Spastic paraplegia	HP:0001258
22978	NT5C2	Pendular nystagmus	HP:0012043
22978	NT5C2	Knee flexion contracture	HP:0006380
22978	NT5C2	Dysplastic corpus callosum	HP:0006989
22978	NT5C2	Global developmental delay	HP:0001263
22978	NT5C2	Spastic gait	HP:0002064
22978	NT5C2	Motor delay	HP:0001270
22978	NT5C2	Flexion contracture	HP:0001371
22978	NT5C2	Babinski sign	HP:0003487
22978	NT5C2	Hypoplasia of the corpus callosum	HP:0002079
22978	NT5C2	Nystagmus	HP:0000639
55746	NUP133	Focal segmental glomerulosclerosis	HP:0000097
55746	NUP133	Progressive	HP:0003676
55746	NUP133	Steroid-resistant nephrotic syndrome	HP:0012588
55746	NUP133	Stage 5 chronic kidney disease	HP:0003774
6595	SMARCA2	Brachydactyly	HP:0001156
6595	SMARCA2	Autosomal dominant inheritance	HP:0000006
6595	SMARCA2	Unilateral narrow palpebral fissure	HP:0007946
6595	SMARCA2	Wide nasal base	HP:0012810
6595	SMARCA2	Abnormality of the metacarpal bones	HP:0001163
6595	SMARCA2	Long eyelashes	HP:0000527
6595	SMARCA2	High, narrow palate	HP:0002705
6595	SMARCA2	Clubbing of toes	HP:0100760
6595	SMARCA2	Wide mouth	HP:0000154
6595	SMARCA2	Cryptorchidism	HP:0000028
6595	SMARCA2	Poor speech	HP:0002465
6595	SMARCA2	Broad philtrum	HP:0000289
6595	SMARCA2	Sparse scalp hair	HP:0002209
6595	SMARCA2	Echolalia	HP:0010529
6595	SMARCA2	Low anterior hairline	HP:0000294
6595	SMARCA2	Abnormality of epiphysis morphology	HP:0005930
6595	SMARCA2	Absent eyebrow	HP:0002223
6595	SMARCA2	Widely spaced teeth	HP:0000687
6595	SMARCA2	Specific learning disability	HP:0001328
6595	SMARCA2	Thick lower lip vermilion	HP:0000179
6595	SMARCA2	Dysphasia	HP:0002357
6595	SMARCA2	Severe short stature	HP:0003510
6595	SMARCA2	Short palm	HP:0004279
6595	SMARCA2	Hernia	HP:0100790
6595	SMARCA2	Sandal gap	HP:0001852
6595	SMARCA2	Alopecia	HP:0001596
6595	SMARCA2	Narrow nasal bridge	HP:0000446
6595	SMARCA2	Delayed skeletal maturation	HP:0002750
6595	SMARCA2	Smooth philtrum	HP:0000319
6595	SMARCA2	Absent speech	HP:0001344
6595	SMARCA2	Short metacarpal	HP:0010049
6595	SMARCA2	Eczema	HP:0000964
6595	SMARCA2	Triangular face	HP:0000325
6595	SMARCA2	Blepharophimosis	HP:0000581
6595	SMARCA2	Thick nasal alae	HP:0009928
6595	SMARCA2	Absence seizure	HP:0002121
6595	SMARCA2	Short palpebral fissure	HP:0012745
6595	SMARCA2	Short phalanx of finger	HP:0009803
6595	SMARCA2	Aphasia	HP:0002381
6595	SMARCA2	Aggressive behavior	HP:0000718
6595	SMARCA2	Anteverted nares	HP:0000463
6595	SMARCA2	Wide intermamillary distance	HP:0006610
6595	SMARCA2	Status epilepticus	HP:0002133
6595	SMARCA2	Long philtrum	HP:0000343
6595	SMARCA2	Abnormality of cardiovascular system morphology	HP:0030680
6595	SMARCA2	Epileptic spasms	HP:0011097
6595	SMARCA2	Scoliosis	HP:0002650
6595	SMARCA2	Prominent interphalangeal joints	HP:0006237
6595	SMARCA2	Joint dislocation	HP:0001373
6595	SMARCA2	Excessive wrinkled skin	HP:0007392
6595	SMARCA2	Abnormal hair pattern	HP:0010720
6595	SMARCA2	Narrow palpebral fissure	HP:0045025
6595	SMARCA2	Intellectual disability	HP:0001249
6595	SMARCA2	Seizures	HP:0001250
6595	SMARCA2	Short stature	HP:0004322
6595	SMARCA2	Failure to thrive	HP:0001508
6595	SMARCA2	Intrauterine growth retardation	HP:0001511
6595	SMARCA2	Everted lower lip vermilion	HP:0000232
6595	SMARCA2	Thin vermilion border	HP:0000233
6595	SMARCA2	Broad distal phalanx of finger	HP:0009836
6595	SMARCA2	Downslanted palpebral fissures	HP:0000494
6595	SMARCA2	Hypotrichosis	HP:0001006
6595	SMARCA2	Global developmental delay	HP:0001263
6595	SMARCA2	Intellectual disability, severe	HP:0010864
6595	SMARCA2	Accelerated skeletal maturation	HP:0005616
6595	SMARCA2	Curly eyelashes	HP:0007665
6595	SMARCA2	Short metatarsal	HP:0010743
6595	SMARCA2	Highly arched eyebrow	HP:0002553
6595	SMARCA2	Microcephaly	HP:0000252
6595	SMARCA2	Mutism	HP:0002300
80324	PUS1	EMG abnormality	HP:0003457
80324	PUS1	Sideroblastic anemia	HP:0001924
80324	PUS1	Autosomal recessive inheritance	HP:0000007
80324	PUS1	Hypochromic anemia	HP:0001931
80324	PUS1	Distichiasis	HP:0009743
80324	PUS1	Microcytic anemia	HP:0001935
80324	PUS1	Increased serum ferritin	HP:0003281
80324	PUS1	Pallor	HP:0000980
80324	PUS1	Long philtrum	HP:0000343
80324	PUS1	Mitochondrial myopathy	HP:0003737
80324	PUS1	High palate	HP:0000218
80324	PUS1	Exercise intolerance	HP:0003546
80324	PUS1	Scoliosis	HP:0002650
80324	PUS1	Micrognathia	HP:0000347
80324	PUS1	Generalized limb muscle atrophy	HP:0009055
80324	PUS1	Intellectual disability	HP:0001249
80324	PUS1	Erythroid hyperplasia	HP:0012132
80324	PUS1	Failure to thrive	HP:0001508
80324	PUS1	Muscular hypotonia	HP:0001252
80324	PUS1	Increased serum lactate	HP:0002151
80324	PUS1	Cytochrome C oxidase-negative muscle fibers	HP:0003688
80324	PUS1	Anemia	HP:0001903
80324	PUS1	Glaucoma	HP:0000501
80324	PUS1	Delayed puberty	HP:0000823
80324	PUS1	Lactic acidosis	HP:0003128
80324	PUS1	Kyphosis	HP:0002808
80324	PUS1	Progressive muscle weakness	HP:0003323
80324	PUS1	Microcephaly	HP:0000252
80324	PUS1	Short nose	HP:0003196
80324	PUS1	Myopathy	HP:0003198
6597	SMARCA4	Cataract	HP:0000518
6597	SMARCA4	Autosomal dominant inheritance	HP:0000006
6597	SMARCA4	Congenital diaphragmatic hernia	HP:0000776
6597	SMARCA4	Generalized hypotonia	HP:0001290
6597	SMARCA4	Long eyelashes	HP:0000527
6597	SMARCA4	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	HP:0100371
6597	SMARCA4	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	HP:0009239
6597	SMARCA4	Coarse facial features	HP:0000280
6597	SMARCA4	Dandy-Walker malformation	HP:0001305
6597	SMARCA4	Short distal phalanx of finger	HP:0009882
6597	SMARCA4	Wide mouth	HP:0000154
6597	SMARCA4	Cryptorchidism	HP:0000028
6597	SMARCA4	Recurrent respiratory infections	HP:0002205
6597	SMARCA4	Epicanthus	HP:0000286
6597	SMARCA4	Macroglossia	HP:0000158
6597	SMARCA4	Hypoplasia of the corpus callosum	HP:0002079
6597	SMARCA4	Depressed nasal bridge	HP:0005280
6597	SMARCA4	Hypoplastic fifth toenail	HP:0011937
6597	SMARCA4	Sparse scalp hair	HP:0002209
6597	SMARCA4	Abnormality of the dentition	HP:0000164
6597	SMARCA4	Feeding difficulties in infancy	HP:0008872
6597	SMARCA4	Slow-growing hair	HP:0002217
6597	SMARCA4	Bilateral single transverse palmar creases	HP:0007598
6597	SMARCA4	Wide nasal bridge	HP:0000431
6597	SMARCA4	Cleft palate	HP:0000175
6597	SMARCA4	Thick lower lip vermilion	HP:0000179
6597	SMARCA4	Generalized hirsutism	HP:0002230
6597	SMARCA4	Partial agenesis of the corpus callosum	HP:0001338
6597	SMARCA4	Joint hyperflexibility	HP:0005692
6597	SMARCA4	Wide nose	HP:0000445
6597	SMARCA4	Thick eyebrow	HP:0000574
6597	SMARCA4	Delayed skeletal maturation	HP:0002750
6597	SMARCA4	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6597	SMARCA4	Feeding difficulties	HP:0011968
6597	SMARCA4	Short philtrum	HP:0000322
6597	SMARCA4	Cutis marmorata	HP:0000965
6597	SMARCA4	Abnormality of the hip bone	HP:0003272
6597	SMARCA4	Thick nasal alae	HP:0009928
6597	SMARCA4	Depressed nasal ridge	HP:0000457
6597	SMARCA4	Hypoplastic fifth fingernail	HP:0008398
6597	SMARCA4	Anteverted nares	HP:0000463
6597	SMARCA4	Ectopic kidney	HP:0000086
6597	SMARCA4	Abnormality of cardiovascular system morphology	HP:0030680
6597	SMARCA4	Scoliosis	HP:0002650
6597	SMARCA4	Intellectual disability	HP:0001249
6597	SMARCA4	Short stature	HP:0004322
6597	SMARCA4	Spina bifida occulta	HP:0003298
6597	SMARCA4	Seizures	HP:0001250
6597	SMARCA4	Elbow dislocation	HP:0003042
6597	SMARCA4	Aplasia/Hypoplasia of the patella	HP:0006498
6597	SMARCA4	Muscular hypotonia	HP:0001252
6597	SMARCA4	Renal hypoplasia/aplasia	HP:0008678
6597	SMARCA4	Strabismus	HP:0000486
6597	SMARCA4	Hypertrichosis	HP:0000998
6597	SMARCA4	Intrauterine growth retardation	HP:0001511
6597	SMARCA4	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0009835
6597	SMARCA4	Hearing impairment	HP:0000365
6597	SMARCA4	Global developmental delay	HP:0001263
6597	SMARCA4	Hirsutism	HP:0001007
6597	SMARCA4	Coxa valga	HP:0002673
6597	SMARCA4	Abnormality of the intervertebral disk	HP:0005108
6597	SMARCA4	Kyphosis	HP:0002808
6597	SMARCA4	Lacrimation abnormality	HP:0000632
6597	SMARCA4	Abnormality of the clavicle	HP:0000889
6597	SMARCA4	Visual impairment	HP:0000505
6597	SMARCA4	Abnormal corpus callosum morphology	HP:0001273
6597	SMARCA4	Microcephaly	HP:0000252
6597	SMARCA4	Ptosis	HP:0000508
6597	SMARCA4	Hydronephrosis	HP:0000126
6597	SMARCA4	Nystagmus	HP:0000639
6598	SMARCB1	Macrocephaly	HP:0000256
6598	SMARCB1	Autosomal dominant inheritance	HP:0000006
6598	SMARCB1	Cataract	HP:0000518
6598	SMARCB1	Congenital diaphragmatic hernia	HP:0000776
6598	SMARCB1	Generalized hypotonia	HP:0001290
6598	SMARCB1	Long eyelashes	HP:0000527
6598	SMARCB1	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	HP:0100371
6598	SMARCB1	Reduced consciousness/confusion	HP:0004372
6598	SMARCB1	Hemiplegia/hemiparesis	HP:0004374
6598	SMARCB1	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	HP:0009239
6598	SMARCB1	Coarse facial features	HP:0000280
6598	SMARCB1	Dandy-Walker malformation	HP:0001305
6598	SMARCB1	Wide mouth	HP:0000154
6598	SMARCB1	Short distal phalanx of finger	HP:0009882
6598	SMARCB1	Migraine	HP:0002076
6598	SMARCB1	Cryptorchidism	HP:0000028
6598	SMARCB1	Recurrent respiratory infections	HP:0002205
6598	SMARCB1	Macroglossia	HP:0000158
6598	SMARCB1	Epicanthus	HP:0000286
6598	SMARCB1	Hypoplasia of the corpus callosum	HP:0002079
6598	SMARCB1	Depressed nasal bridge	HP:0005280
6598	SMARCB1	Sparse scalp hair	HP:0002209
6598	SMARCB1	Hypoplastic fifth toenail	HP:0011937
6598	SMARCB1	Abnormality of the dentition	HP:0000164
6598	SMARCB1	Cranial nerve paralysis	HP:0006824
6598	SMARCB1	Feeding difficulties in infancy	HP:0008872
6598	SMARCB1	Cerebellar hypoplasia	HP:0001321
6598	SMARCB1	Slow-growing hair	HP:0002217
6598	SMARCB1	Muscle weakness	HP:0001324
6598	SMARCB1	Bilateral single transverse palmar creases	HP:0007598
6598	SMARCB1	Wide nasal bridge	HP:0000431
6598	SMARCB1	Cleft palate	HP:0000175
6598	SMARCB1	Thick lower lip vermilion	HP:0000179
6598	SMARCB1	Cerebral palsy	HP:0100021
6598	SMARCB1	Generalized hirsutism	HP:0002230
6598	SMARCB1	Choroid plexus carcinoma	HP:0030392
6598	SMARCB1	Delayed eruption of permanent teeth	HP:0000696
6598	SMARCB1	Partial agenesis of the corpus callosum	HP:0001338
6598	SMARCB1	Joint hyperflexibility	HP:0005692
6598	SMARCB1	Wide nose	HP:0000445
6598	SMARCB1	Delayed skeletal maturation	HP:0002750
6598	SMARCB1	Thick eyebrow	HP:0000574
6598	SMARCB1	Feeding difficulties	HP:0011968
6598	SMARCB1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6598	SMARCB1	Short philtrum	HP:0000322
6598	SMARCB1	Medulloblastoma	HP:0002885
6598	SMARCB1	Cutis marmorata	HP:0000965
6598	SMARCB1	Abnormality of the hip bone	HP:0003272
6598	SMARCB1	Depressed nasal ridge	HP:0000457
6598	SMARCB1	Hypoplastic fifth fingernail	HP:0008398
6598	SMARCB1	Anteverted nares	HP:0000463
6598	SMARCB1	Cerebral calcification	HP:0002514
6598	SMARCB1	Ectopic kidney	HP:0000086
6598	SMARCB1	Abnormality of cardiovascular system morphology	HP:0030680
6598	SMARCB1	Scoliosis	HP:0002650
6598	SMARCB1	Limitation of joint mobility	HP:0001376
6598	SMARCB1	Irritability	HP:0000737
6598	SMARCB1	Nausea and vomiting	HP:0002017
6598	SMARCB1	Intellectual disability	HP:0001249
6598	SMARCB1	Seizures	HP:0001250
6598	SMARCB1	Short stature	HP:0004322
6598	SMARCB1	Spina bifida occulta	HP:0003298
6598	SMARCB1	Elbow dislocation	HP:0003042
6598	SMARCB1	Aplasia/Hypoplasia of the patella	HP:0006498
6598	SMARCB1	Ataxia	HP:0001251
6598	SMARCB1	Muscular hypotonia	HP:0001252
6598	SMARCB1	Malignant neoplasm of the central nervous system	HP:0100836
6598	SMARCB1	Apathy	HP:0000741
6598	SMARCB1	Hypertrichosis	HP:0000998
6598	SMARCB1	Renal hypoplasia/aplasia	HP:0008678
6598	SMARCB1	Strabismus	HP:0000486
6598	SMARCB1	Intrauterine growth retardation	HP:0001511
6598	SMARCB1	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0009835
6598	SMARCB1	Hearing impairment	HP:0000365
6598	SMARCB1	Hydrocephalus	HP:0000238
6598	SMARCB1	Global developmental delay	HP:0001263
6598	SMARCB1	Hirsutism	HP:0001007
6598	SMARCB1	Coxa valga	HP:0002673
6598	SMARCB1	Abnormality of the intervertebral disk	HP:0005108
6598	SMARCB1	Kyphosis	HP:0002808
6598	SMARCB1	Lacrimation abnormality	HP:0000632
6598	SMARCB1	Abnormal corpus callosum morphology	HP:0001273
6598	SMARCB1	Visual impairment	HP:0000505
6598	SMARCB1	Abnormality of the clavicle	HP:0000889
6598	SMARCB1	Microcephaly	HP:0000252
6598	SMARCB1	Ptosis	HP:0000508
6598	SMARCB1	Hydronephrosis	HP:0000126
6598	SMARCB1	Nystagmus	HP:0000639
55750	AGK	Abnormal electroretinogram	HP:0000512
55750	AGK	Cataract	HP:0000518
55750	AGK	Developmental cataract	HP:0000519
55750	AGK	Autosomal recessive inheritance	HP:0000007
55750	AGK	Infantile onset	HP:0003593
55750	AGK	Generalized hypotonia	HP:0001290
55750	AGK	3-Methylglutaconic aciduria	HP:0003535
55750	AGK	Thrombocytopenia	HP:0001873
55750	AGK	Mitochondrial myopathy	HP:0003737
55750	AGK	Fatigue	HP:0012378
55750	AGK	Exercise intolerance	HP:0003546
55750	AGK	Myopia	HP:0000545
55750	AGK	Muscular hypotonia	HP:0001252
55750	AGK	Exercise-induced lactic acidemia	HP:0004901
55750	AGK	Strabismus	HP:0000486
55750	AGK	Growth delay	HP:0001510
55750	AGK	Hypertrophic cardiomyopathy	HP:0001639
55750	AGK	Increased serum lactate	HP:0002151
55750	AGK	Corneal dystrophy	HP:0001131
55750	AGK	Muscle weakness	HP:0001324
55750	AGK	Respiratory insufficiency	HP:0002093
55750	AGK	Variable expressivity	HP:0003828
55750	AGK	Glaucoma	HP:0000501
55750	AGK	Motor delay	HP:0001270
55750	AGK	Lactic acidosis	HP:0003128
55750	AGK	Easy fatigability	HP:0003388
55750	AGK	Myopathy	HP:0003198
55750	AGK	Nystagmus	HP:0000639
22983	MAST1	Seizures	HP:0001250
22983	MAST1	Ataxia	HP:0001251
22983	MAST1	Ventriculomegaly	HP:0002119
22983	MAST1	Cerebellar hypoplasia	HP:0001321
22983	MAST1	Infantile onset	HP:0003593
22983	MAST1	Inability to walk	HP:0002540
22983	MAST1	Unsteady gait	HP:0002317
22983	MAST1	Hypoplasia of the brainstem	HP:0002365
22983	MAST1	Global developmental delay	HP:0001263
80326	WNT10A	Small nail	HP:0001792
80326	WNT10A	Plantar hyperkeratosis	HP:0007556
80326	WNT10A	Epidermal acanthosis	HP:0025092
80326	WNT10A	Sparse hair	HP:0008070
80326	WNT10A	Autosomal dominant inheritance	HP:0000006
80326	WNT10A	Ovarian neoplasm	HP:0100615
80326	WNT10A	Anonychia	HP:0001798
80326	WNT10A	Autosomal recessive inheritance	HP:0000007
80326	WNT10A	Short eyelashes	HP:0010764
80326	WNT10A	Onycholysis	HP:0001806
80326	WNT10A	Ridged nail	HP:0001807
80326	WNT10A	Dystrophic toenail	HP:0001810
80326	WNT10A	Sparse eyebrow	HP:0045075
80326	WNT10A	Sparse and thin eyebrow	HP:0000535
80326	WNT10A	Thin nail	HP:0001816
80326	WNT10A	Keratosis pilaris	HP:0032152
80326	WNT10A	Hypergranulosis	HP:0025114
80326	WNT10A	Hypodontia	HP:0000668
80326	WNT10A	Erythema	HP:0010783
80326	WNT10A	Sparse scalp hair	HP:0002209
80326	WNT10A	Fine hair	HP:0002213
80326	WNT10A	Oligodontia	HP:0000677
80326	WNT10A	Squamous cell carcinoma	HP:0002860
80326	WNT10A	Hypoplasia of teeth	HP:0000685
80326	WNT10A	Poroma	HP:0031405
80326	WNT10A	Narrow nail	HP:0011313
80326	WNT10A	Premature loss of primary teeth	HP:0006323
80326	WNT10A	Microdontia	HP:0000691
80326	WNT10A	Sparse body hair	HP:0002231
80326	WNT10A	Smooth tongue	HP:0010298
80326	WNT10A	Alopecia	HP:0001596
80326	WNT10A	Dry skin	HP:0000958
80326	WNT10A	Bird-like facies	HP:0000320
80326	WNT10A	Abnormal toenail morphology	HP:0008388
80326	WNT10A	Peg-shaped maxillary lateral incisors	HP:0006342
80326	WNT10A	Hypohidrosis	HP:0000966
80326	WNT10A	Hypoplasia of the maxilla	HP:0000327
80326	WNT10A	Dystrophic fingernails	HP:0008391
80326	WNT10A	Ectodermal dysplasia	HP:0000968
80326	WNT10A	Reduced number of teeth	HP:0009804
80326	WNT10A	Agenesis of permanent teeth	HP:0006349
80326	WNT10A	Abnormal fingernail morphology	HP:0001231
80326	WNT10A	Hyperhidrosis	HP:0000975
80326	WNT10A	Abnormality of primary teeth	HP:0006481
80326	WNT10A	Abnormality of dental morphology	HP:0006482
80326	WNT10A	Facial telangiectasia	HP:0007380
80326	WNT10A	Palmoplantar keratoderma	HP:0000982
80326	WNT10A	Micrognathia	HP:0000347
80326	WNT10A	Abnormality of the eye	HP:0000478
80326	WNT10A	Apocrine hidrocystoma	HP:0031454
80326	WNT10A	Dry hair	HP:0011359
80326	WNT10A	Orthokeratosis	HP:0040162
80326	WNT10A	Photophobia	HP:0000613
80326	WNT10A	Aplasia/Hypoplasia of the eyebrow	HP:0100840
80326	WNT10A	Hypotrichosis	HP:0001006
80326	WNT10A	Basal cell carcinoma	HP:0002671
80326	WNT10A	Palmoplantar hyperhidrosis	HP:0007410
80326	WNT10A	Nail dysplasia	HP:0002164
80331	DNAJC5	Seizures	HP:0001250
80331	DNAJC5	Ataxia	HP:0001251
80331	DNAJC5	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003205
80331	DNAJC5	Abnormal cerebellum morphology	HP:0001317
80331	DNAJC5	Autosomal dominant inheritance	HP:0000006
80331	DNAJC5	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	HP:0003208
80331	DNAJC5	Granular osmiophilic deposits (GROD) in cells	HP:0003657
80331	DNAJC5	Depressivity	HP:0000716
80331	DNAJC5	Parkinsonism	HP:0001300
80331	DNAJC5	Dementia	HP:0000726
80331	DNAJC5	Myoclonus	HP:0001336
80331	DNAJC5	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0003226
80331	DNAJC5	Increased neuronal autofluorescent lipopigment	HP:0002074
80331	DNAJC5	Adult onset	HP:0003581
80331	DNAJC5	Auditory hallucinations	HP:0008765
80331	DNAJC5	Rapidly progressive	HP:0003678
80331	DNAJC5	Visual hallucinations	HP:0002367
55755	CDK5RAP2	Short stature	HP:0004322
55755	CDK5RAP2	Hyperreflexia	HP:0001347
55755	CDK5RAP2	Hypoplasia of the frontal lobes	HP:0007333
55755	CDK5RAP2	Upslanted palpebral fissure	HP:0000582
55755	CDK5RAP2	Intellectual disability, moderate	HP:0002342
55755	CDK5RAP2	Ventriculomegaly	HP:0002119
55755	CDK5RAP2	Autosomal recessive inheritance	HP:0000007
55755	CDK5RAP2	Small cerebral cortex	HP:0002472
55755	CDK5RAP2	Proptosis	HP:0000520
55755	CDK5RAP2	Gray matter heterotopia	HP:0002282
55755	CDK5RAP2	Vesicoureteral reflux	HP:0000076
55755	CDK5RAP2	Global developmental delay	HP:0001263
55755	CDK5RAP2	Intellectual disability, severe	HP:0010864
55755	CDK5RAP2	Sloping forehead	HP:0000340
55755	CDK5RAP2	Pachygyria	HP:0001302
55755	CDK5RAP2	Simplified gyral pattern	HP:0009879
55755	CDK5RAP2	Sensorineural hearing impairment	HP:0000407
55755	CDK5RAP2	Unilateral renal agenesis	HP:0000122
55755	CDK5RAP2	Agenesis of corpus callosum	HP:0001274
55755	CDK5RAP2	Thin upper lip vermilion	HP:0000219
55755	CDK5RAP2	Microcephaly	HP:0000252
55755	CDK5RAP2	Abnormal cortical bone morphology	HP:0003103
6603	SMARCD2	Failure to thrive	HP:0001508
6603	SMARCD2	Absent neutrophil specific granules	HP:0012551
6603	SMARCD2	Myelodysplasia	HP:0002863
6603	SMARCD2	Anemia	HP:0001903
6603	SMARCD2	Fragile nails	HP:0001808
6603	SMARCD2	Low-set ears	HP:0000369
6603	SMARCD2	Thrombocytopenia	HP:0001873
6603	SMARCD2	Neutropenia	HP:0001875
6603	SMARCD2	Recurrent otitis media	HP:0000403
6603	SMARCD2	Nail dysplasia	HP:0002164
6603	SMARCD2	Congenital onset	HP:0003577
6603	SMARCD2	Abnormality of the pinna	HP:0000377
6603	SMARCD2	Recurrent bacterial infections	HP:0002718
6605	SMARCE1	Cataract	HP:0000518
6605	SMARCE1	Autosomal dominant inheritance	HP:0000006
6605	SMARCE1	Congenital diaphragmatic hernia	HP:0000776
6605	SMARCE1	Hypoplastic toenails	HP:0001800
6605	SMARCE1	Arachnodactyly	HP:0001166
6605	SMARCE1	Long eyelashes	HP:0000527
6605	SMARCE1	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	HP:0100371
6605	SMARCE1	Dystrophic toenail	HP:0001810
6605	SMARCE1	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	HP:0009239
6605	SMARCE1	Coarse facial features	HP:0000280
6605	SMARCE1	Dandy-Walker malformation	HP:0001305
6605	SMARCE1	Short distal phalanx of finger	HP:0009882
6605	SMARCE1	Wide mouth	HP:0000154
6605	SMARCE1	Cryptorchidism	HP:0000028
6605	SMARCE1	Recurrent respiratory infections	HP:0002205
6605	SMARCE1	Epicanthus	HP:0000286
6605	SMARCE1	Hypoplasia of the corpus callosum	HP:0002079
6605	SMARCE1	Recurrent infections	HP:0002719
6605	SMARCE1	Depressed nasal bridge	HP:0005280
6605	SMARCE1	Hypoplastic fifth toenail	HP:0011937
6605	SMARCE1	Sparse scalp hair	HP:0002209
6605	SMARCE1	Abnormality of the dentition	HP:0000164
6605	SMARCE1	Low anterior hairline	HP:0000294
6605	SMARCE1	Feeding difficulties in infancy	HP:0008872
6605	SMARCE1	Slow-growing hair	HP:0002217
6605	SMARCE1	Cerebellar hypoplasia	HP:0001321
6605	SMARCE1	Bilateral single transverse palmar creases	HP:0007598
6605	SMARCE1	Wide nasal bridge	HP:0000431
6605	SMARCE1	Cleft palate	HP:0000175
6605	SMARCE1	Thick lower lip vermilion	HP:0000179
6605	SMARCE1	Generalized hirsutism	HP:0002230
6605	SMARCE1	Partial agenesis of the corpus callosum	HP:0001338
6605	SMARCE1	Joint hyperflexibility	HP:0005692
6605	SMARCE1	Sandal gap	HP:0001852
6605	SMARCE1	Wide nose	HP:0000445
6605	SMARCE1	Thick eyebrow	HP:0000574
6605	SMARCE1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6605	SMARCE1	Absent speech	HP:0001344
6605	SMARCE1	Feeding difficulties	HP:0011968
6605	SMARCE1	Short philtrum	HP:0000322
6605	SMARCE1	Cutis marmorata	HP:0000965
6605	SMARCE1	Abnormality of the hip bone	HP:0003272
6605	SMARCE1	Thick nasal alae	HP:0009928
6605	SMARCE1	Depressed nasal ridge	HP:0000457
6605	SMARCE1	Hypoplastic fifth fingernail	HP:0008398
6605	SMARCE1	Ectopic kidney	HP:0000086
6605	SMARCE1	Abnormality of cardiovascular system morphology	HP:0030680
6605	SMARCE1	Scoliosis	HP:0002650
6605	SMARCE1	Thin upper lip vermilion	HP:0000219
6605	SMARCE1	Atrial septal defect	HP:0001631
6605	SMARCE1	Intellectual disability	HP:0001249
6605	SMARCE1	Short stature	HP:0004322
6605	SMARCE1	Spina bifida occulta	HP:0003298
6605	SMARCE1	Seizures	HP:0001250
6605	SMARCE1	Elbow dislocation	HP:0003042
6605	SMARCE1	Aplasia/Hypoplasia of the patella	HP:0006498
6605	SMARCE1	Muscular hypotonia	HP:0001252
6605	SMARCE1	Renal hypoplasia/aplasia	HP:0008678
6605	SMARCE1	Strabismus	HP:0000486
6605	SMARCE1	Intrauterine growth retardation	HP:0001511
6605	SMARCE1	Hearing impairment	HP:0000365
6605	SMARCE1	Global developmental delay	HP:0001263
6605	SMARCE1	Coxa valga	HP:0002673
6605	SMARCE1	Abnormality of the intervertebral disk	HP:0005108
6605	SMARCE1	Kyphosis	HP:0002808
6605	SMARCE1	Lacrimation abnormality	HP:0000632
6605	SMARCE1	Abnormality of the clavicle	HP:0000889
6605	SMARCE1	Microcephaly	HP:0000252
6605	SMARCE1	Ptosis	HP:0000508
6605	SMARCE1	Hydronephrosis	HP:0000126
6605	SMARCE1	Nystagmus	HP:0000639
6606	SMN1	EMG abnormality	HP:0003457
6606	SMN1	Muscle spasm	HP:0003394
6606	SMN1	Areflexia	HP:0001284
6606	SMN1	Autosomal recessive inheritance	HP:0000007
6606	SMN1	Hand tremor	HP:0002378
6606	SMN1	Proximal amyotrophy	HP:0007126
6606	SMN1	Decreased fetal movement	HP:0001558
6606	SMN1	Areflexia of lower limbs	HP:0002522
6606	SMN1	Tongue fasciculations	HP:0001308
6606	SMN1	Progressive	HP:0003676
6606	SMN1	Recurrent respiratory infections	HP:0002205
6606	SMN1	Slow progression	HP:0003677
6606	SMN1	Ventricular septal defect	HP:0001629
6606	SMN1	Degeneration of anterior horn cells	HP:0002398
6606	SMN1	Atrial septal defect	HP:0001631
6606	SMN1	Proximal muscle weakness in lower limbs	HP:0008994
6606	SMN1	Spinal muscular atrophy	HP:0007269
6606	SMN1	Muscle weakness	HP:0001324
6606	SMN1	Respiratory insufficiency	HP:0002093
6606	SMN1	Hyporeflexia	HP:0001265
6606	SMN1	EMG: neuropathic changes	HP:0003445
6606	SMN1	Proximal muscle weakness	HP:0003701
6606	SMN1	Limb fasciculations	HP:0007289
6606	SMN1	Adult onset	HP:0003581
6606	SMN1	Respiratory failure	HP:0002878
6608	SMO	Aplasia/Hypoplasia of the skin	HP:0008065
6608	SMO	Facial asymmetry	HP:0000324
6608	SMO	Blepharophimosis	HP:0000581
6608	SMO	Intestinal malrotation	HP:0002566
6608	SMO	Ventriculomegaly	HP:0002119
6608	SMO	Syndactyly	HP:0001159
6608	SMO	Optic nerve coloboma	HP:0000588
6608	SMO	Coloboma	HP:0000589
6608	SMO	Polymicrogyria	HP:0002126
6608	SMO	Craniosynostosis	HP:0001363
6608	SMO	Finger syndactyly	HP:0006101
6608	SMO	Duplication of thumb phalanx	HP:0009942
6608	SMO	Preaxial hand polydactyly	HP:0001177
6608	SMO	Hypopigmented skin patches	HP:0001053
6608	SMO	Intellectual disability	HP:0001249
6608	SMO	Somatic mosaicism	HP:0001442
6608	SMO	Chronic constipation	HP:0012450
6608	SMO	Iris coloboma	HP:0000612
6608	SMO	Foot polydactyly	HP:0001829
6608	SMO	Hemimegalencephaly	HP:0007206
6608	SMO	Broad thumb	HP:0011304
6608	SMO	Anal stenosis	HP:0002025
6608	SMO	Toe syndactyly	HP:0001770
6608	SMO	Basal cell carcinoma	HP:0002671
6608	SMO	Global developmental delay	HP:0001263
6608	SMO	Hirsutism	HP:0001007
6608	SMO	Generalized hirsutism	HP:0002230
6608	SMO	Abnormality of the skin	HP:0000951
6608	SMO	Microphthalmia	HP:0000568
6608	SMO	Agenesis of corpus callosum	HP:0001274
6608	SMO	Cutaneous finger syndactyly	HP:0010554
6608	SMO	Arnold-Chiari type I malformation	HP:0007099
6608	SMO	Hypertelorism	HP:0000316
6608	SMO	Cutaneous syndactyly of toes	HP:0010621
137682	NDUFAF6	Skeletal muscle atrophy	HP:0003202
137682	NDUFAF6	Hyperreflexia	HP:0001347
137682	NDUFAF6	Pigmentary retinopathy	HP:0000580
137682	NDUFAF6	Optic atrophy	HP:0000648
137682	NDUFAF6	Emotional lability	HP:0000712
137682	NDUFAF6	Developmental regression	HP:0002376
137682	NDUFAF6	Gait disturbance	HP:0001288
137682	NDUFAF6	Generalized hypotonia	HP:0001290
137682	NDUFAF6	Decreased activity of mitochondrial respiratory chain	HP:0008972
137682	NDUFAF6	Focal T2 hyperintense basal ganglia lesion	HP:0007183
137682	NDUFAF6	Rigidity	HP:0002063
137682	NDUFAF6	Progressive cerebellar ataxia	HP:0002073
137682	NDUFAF6	Ophthalmoplegia	HP:0000602
137682	NDUFAF6	Ventricular septal defect	HP:0001629
137682	NDUFAF6	Seizures	HP:0001250
137682	NDUFAF6	Ataxia	HP:0001251
137682	NDUFAF6	Failure to thrive	HP:0001508
137682	NDUFAF6	Muscular hypotonia	HP:0001252
137682	NDUFAF6	Strabismus	HP:0000486
137682	NDUFAF6	Hypertrichosis	HP:0000998
137682	NDUFAF6	Peripheral neuropathy	HP:0009830
137682	NDUFAF6	Increased serum lactate	HP:0002151
137682	NDUFAF6	Hypertrophic cardiomyopathy	HP:0001639
137682	NDUFAF6	Progressive spastic paraplegia	HP:0007020
137682	NDUFAF6	Dysarthria	HP:0001260
137682	NDUFAF6	Hearing impairment	HP:0000365
137682	NDUFAF6	Anemia	HP:0001903
137682	NDUFAF6	Global developmental delay	HP:0001263
137682	NDUFAF6	Leukodystrophy	HP:0002415
137682	NDUFAF6	Intellectual disability, severe	HP:0010864
137682	NDUFAF6	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
137682	NDUFAF6	Dystonia	HP:0001332
137682	NDUFAF6	Variable expressivity	HP:0003828
137682	NDUFAF6	Apnea	HP:0002104
137682	NDUFAF6	Increased CSF lactate	HP:0002490
137682	NDUFAF6	Ptosis	HP:0000508
137682	NDUFAF6	Nystagmus	HP:0000639
6609	SMPD1	Hepatomegaly	HP:0002240
6609	SMPD1	Athetosis	HP:0002305
6609	SMPD1	Protuberant abdomen	HP:0001538
6609	SMPD1	Increased LDL cholesterol concentration	HP:0003141
6609	SMPD1	Autosomal recessive inheritance	HP:0000007
6609	SMPD1	Infantile onset	HP:0003593
6609	SMPD1	Generalized hypotonia	HP:0001290
6609	SMPD1	Psychomotor retardation	HP:0025356
6609	SMPD1	Abnormal macular morphology	HP:0001103
6609	SMPD1	Rigidity	HP:0002063
6609	SMPD1	Microcytic anemia	HP:0001935
6609	SMPD1	Splenomegaly	HP:0001744
6609	SMPD1	Foam cells with lamellar inclusion bodies	HP:0003609
6609	SMPD1	Lymphadenopathy	HP:0002716
6609	SMPD1	Recurrent respiratory infections	HP:0002205
6609	SMPD1	Vomiting	HP:0002013
6609	SMPD1	Diffuse reticular or finely nodular infiltrations	HP:0002207
6609	SMPD1	Xanthomatosis	HP:0000991
6609	SMPD1	Decreased HDL cholesterol concentration	HP:0003233
6609	SMPD1	Intellectual disability	HP:0001249
6609	SMPD1	Short stature	HP:0004322
6609	SMPD1	Constipation	HP:0002019
6609	SMPD1	Failure to thrive	HP:0001508
6609	SMPD1	Muscular hypotonia	HP:0001252
6609	SMPD1	Juvenile onset	HP:0003621
6609	SMPD1	Feeding difficulties in infancy	HP:0008872
6609	SMPD1	Cherry red spot of the macula	HP:0010729
6609	SMPD1	Spasticity	HP:0001257
6609	SMPD1	Hypertriglyceridemia	HP:0002155
6609	SMPD1	Osteoporosis	HP:0000939
6609	SMPD1	Muscle weakness	HP:0001324
6609	SMPD1	Bone-marrow foam cells	HP:0004333
6609	SMPD1	Dyspnea	HP:0002094
6609	SMPD1	Global developmental delay	HP:0001263
6609	SMPD1	Hyporeflexia	HP:0001265
6609	SMPD1	Prolonged neonatal jaundice	HP:0006579
6609	SMPD1	Sea-blue histiocytosis	HP:0001982
6611	SMS	Pectus carinatum	HP:0000768
6611	SMS	Bifid uvula	HP:0000193
6611	SMS	Short philtrum	HP:0000322
6611	SMS	Facial asymmetry	HP:0000324
6611	SMS	Recurrent fractures	HP:0002757
6611	SMS	Long fingers	HP:0100807
6611	SMS	Generalized hypotonia	HP:0001290
6611	SMS	Nasal speech	HP:0001611
6611	SMS	X-linked recessive inheritance	HP:0001419
6611	SMS	Webbed neck	HP:0000465
6611	SMS	High, narrow palate	HP:0002705
6611	SMS	Wide intermamillary distance	HP:0006610
6611	SMS	Broad-based gait	HP:0002136
6611	SMS	Cryptorchidism	HP:0000028
6611	SMS	Intellectual disability	HP:0001249
6611	SMS	Talipes equinovarus	HP:0001762
6611	SMS	Seizures	HP:0001250
6611	SMS	Tall stature	HP:0000098
6611	SMS	Short stature	HP:0004322
6611	SMS	Hyperextensibility of the finger joints	HP:0001187
6611	SMS	Muscular hypotonia	HP:0001252
6611	SMS	Long palm	HP:0011302
6611	SMS	Dental crowding	HP:0000678
6611	SMS	Osteoporosis	HP:0000939
6611	SMS	Dysarthria	HP:0001260
6611	SMS	Cleft palate	HP:0000175
6611	SMS	Mandibular prognathia	HP:0000303
6611	SMS	Thick lower lip vermilion	HP:0000179
6611	SMS	Long hallux	HP:0001847
6611	SMS	Abnormality of the pinna	HP:0000377
6611	SMS	High myopia	HP:0011003
6611	SMS	Narrow palm	HP:0004283
6611	SMS	Hypertelorism	HP:0000316
6611	SMS	Decreased muscle mass	HP:0003199
6611	SMS	Kyphoscoliosis	HP:0002751
6611	SMS	Pectus excavatum	HP:0000767
145873	MESP2	Macrocephaly	HP:0000256
145873	MESP2	Disproportionate short-trunk short stature	HP:0003521
145873	MESP2	Umbilical hernia	HP:0001537
145873	MESP2	Short thorax	HP:0010306
145873	MESP2	Meningocele	HP:0002435
145873	MESP2	Abnormality of the ureter	HP:0000069
145873	MESP2	Abdominal distention	HP:0003270
145873	MESP2	Rib fusion	HP:0000902
145873	MESP2	Autosomal recessive inheritance	HP:0000007
145873	MESP2	Abnormality of female internal genitalia	HP:0000008
145873	MESP2	Congenital diaphragmatic hernia	HP:0000776
145873	MESP2	Camptodactyly of finger	HP:0100490
145873	MESP2	Prominent occiput	HP:0000269
145873	MESP2	Anteverted nares	HP:0000463
145873	MESP2	Broad forehead	HP:0000337
145873	MESP2	Anomalous pulmonary venous return	HP:0010772
145873	MESP2	Finger syndactyly	HP:0006101
145873	MESP2	Short neck	HP:0000470
145873	MESP2	Inguinal hernia	HP:0000023
145873	MESP2	Long philtrum	HP:0000343
145873	MESP2	Back pain	HP:0003418
145873	MESP2	Scoliosis	HP:0002650
145873	MESP2	Cryptorchidism	HP:0000028
145873	MESP2	Recurrent respiratory infections	HP:0002205
145873	MESP2	Vertebral segmentation defect	HP:0003422
145873	MESP2	Depressed nasal bridge	HP:0005280
145873	MESP2	Intellectual disability	HP:0001249
145873	MESP2	Short stature	HP:0004322
145873	MESP2	Spina bifida occulta	HP:0003298
145873	MESP2	Abnormality of immune system physiology	HP:0010978
145873	MESP2	Intrauterine growth retardation	HP:0001511
145873	MESP2	Block vertebrae	HP:0003305
145873	MESP2	Urogenital fistula	HP:0100589
145873	MESP2	Respiratory insufficiency	HP:0002093
145873	MESP2	Abnormality of the odontoid process	HP:0003310
145873	MESP2	Cleft palate	HP:0000175
145873	MESP2	Hypospadias	HP:0000047
145873	MESP2	Abnormal form of the vertebral bodies	HP:0003312
145873	MESP2	Low-set, posteriorly rotated ears	HP:0000368
145873	MESP2	Death in infancy	HP:0001522
145873	MESP2	Abnormality of the intervertebral disk	HP:0005108
145873	MESP2	Severe short stature	HP:0003510
145873	MESP2	Kyphosis	HP:0002808
145873	MESP2	Hemivertebrae	HP:0002937
145873	MESP2	Microcephaly	HP:0000252
145873	MESP2	Kyphoscoliosis	HP:0002751
145873	MESP2	Restrictive deficit on pulmonary function testing	HP:0002111
145873	MESP2	Rib segmentation abnormalities	HP:0006655
22995	CEP152	Absent earlobe	HP:0000387
22995	CEP152	Autosomal recessive inheritance	HP:0000007
22995	CEP152	Narrow face	HP:0000275
22995	CEP152	Pachygyria	HP:0001302
22995	CEP152	Retrognathia	HP:0000278
22995	CEP152	Simplified gyral pattern	HP:0009879
22995	CEP152	Hypodontia	HP:0000668
22995	CEP152	Cryptorchidism	HP:0000028
22995	CEP152	Abnormal cortical bone morphology	HP:0003103
22995	CEP152	Sparse scalp hair	HP:0002209
22995	CEP152	Hypoplasia of the frontal lobes	HP:0007333
22995	CEP152	Oligodontia	HP:0000677
22995	CEP152	Abnormality of dental enamel	HP:0000682
22995	CEP152	Prominent nasal bridge	HP:0000426
22995	CEP152	Bimanual synkinesia	HP:0001335
22995	CEP152	Selective tooth agenesis	HP:0001592
22995	CEP152	Convex nasal ridge	HP:0000444
22995	CEP152	Sandal gap	HP:0001852
22995	CEP152	Joint hyperflexibility	HP:0005692
22995	CEP152	Delayed skeletal maturation	HP:0002750
22995	CEP152	Cognitive impairment	HP:0100543
22995	CEP152	Hyperreflexia	HP:0001347
22995	CEP152	Blepharophimosis	HP:0000581
22995	CEP152	Upslanted palpebral fissure	HP:0000582
22995	CEP152	Prematurely aged appearance	HP:0007495
22995	CEP152	Ventriculomegaly	HP:0002119
22995	CEP152	Reduced number of teeth	HP:0009804
22995	CEP152	Vesicoureteral reflux	HP:0000076
22995	CEP152	Mild global developmental delay	HP:0011342
22995	CEP152	Aggressive behavior	HP:0000718
22995	CEP152	Craniosynostosis	HP:0001363
22995	CEP152	Cone-shaped epiphysis	HP:0010579
22995	CEP152	Sloping forehead	HP:0000340
22995	CEP152	Clitoral hypertrophy	HP:0008665
22995	CEP152	Scoliosis	HP:0002650
22995	CEP152	High palate	HP:0000218
22995	CEP152	Micrognathia	HP:0000347
22995	CEP152	Thin upper lip vermilion	HP:0000219
22995	CEP152	Intellectual disability	HP:0001249
22995	CEP152	Short stature	HP:0004322
22995	CEP152	Large beaked nose	HP:0003683
22995	CEP152	Pes planus	HP:0001763
22995	CEP152	Cachexia	HP:0004326
22995	CEP152	Strabismus	HP:0000486
22995	CEP152	Intrauterine growth retardation	HP:0001511
22995	CEP152	Impulsivity	HP:0100710
22995	CEP152	Abnormal cortical gyration	HP:0002536
22995	CEP152	Hip dysplasia	HP:0001385
22995	CEP152	Gray matter heterotopia	HP:0002282
22995	CEP152	Downslanted palpebral fissures	HP:0000494
22995	CEP152	11 pairs of ribs	HP:0000878
22995	CEP152	Global developmental delay	HP:0001263
22995	CEP152	Intellectual disability, severe	HP:0010864
22995	CEP152	Clinodactyly of the 5th finger	HP:0004209
22995	CEP152	Glaucoma	HP:0000501
22995	CEP152	Unilateral renal agenesis	HP:0000122
22995	CEP152	Agenesis of corpus callosum	HP:0001274
22995	CEP152	Microcephaly	HP:0000252
55764	IFT122	Protuberant abdomen	HP:0001538
55764	IFT122	Brachydactyly	HP:0001156
55764	IFT122	Clinodactyly	HP:0030084
55764	IFT122	Short ribs	HP:0000773
55764	IFT122	Narrow chest	HP:0000774
55764	IFT122	Sparse hair	HP:0008070
55764	IFT122	Short nail	HP:0001799
55764	IFT122	Autosomal recessive inheritance	HP:0000007
55764	IFT122	Dolichocephaly	HP:0000268
55764	IFT122	Prominent occiput	HP:0000269
55764	IFT122	High, narrow palate	HP:0002705
55764	IFT122	Thin nail	HP:0001816
55764	IFT122	Broad distal phalanges of all fingers	HP:0009880
55764	IFT122	Hypoplasia of dental enamel	HP:0006297
55764	IFT122	Short distal phalanx of finger	HP:0009882
55764	IFT122	Hypodontia	HP:0000668
55764	IFT122	Epicanthus	HP:0000286
55764	IFT122	Short humerus	HP:0005792
55764	IFT122	Myopia	HP:0000545
55764	IFT122	Anodontia	HP:0000674
55764	IFT122	Malformation of the hepatic ductal plate	HP:0006563
55764	IFT122	Fine hair	HP:0002213
55764	IFT122	Full cheeks	HP:0000293
55764	IFT122	Short toe	HP:0001831
55764	IFT122	Taurodontia	HP:0000679
55764	IFT122	Slow-growing hair	HP:0002217
55764	IFT122	Abnormality of dental enamel	HP:0000682
55764	IFT122	Osteoporosis	HP:0000939
55764	IFT122	Retinal dystrophy	HP:0000556
55764	IFT122	Abnormal diaphysis morphology	HP:0000940
55764	IFT122	Broad toe	HP:0001837
55764	IFT122	Widely spaced teeth	HP:0000687
55764	IFT122	Wide nasal bridge	HP:0000431
55764	IFT122	Abnormality of the metaphysis	HP:0000944
55764	IFT122	Tubulointerstitial nephritis	HP:0001970
55764	IFT122	Microdontia	HP:0000691
55764	IFT122	High hypermetropia	HP:0008499
55764	IFT122	Single transverse palmar crease	HP:0000954
55764	IFT122	Joint hyperflexibility	HP:0005692
55764	IFT122	Renal magnesium wasting	HP:0005567
55764	IFT122	Hepatomegaly	HP:0002240
55764	IFT122	Abnormal toenail morphology	HP:0008388
55764	IFT122	Ectodermal dysplasia	HP:0000968
55764	IFT122	Rhizomelia	HP:0008905
55764	IFT122	Abnormality of the abdominal wall	HP:0004298
55764	IFT122	Chronic kidney disease	HP:0012622
55764	IFT122	Anteverted nares	HP:0000463
55764	IFT122	Scaphocephaly	HP:0030799
55764	IFT122	Abnormal fingernail morphology	HP:0001231
55764	IFT122	Craniosynostosis	HP:0001363
55764	IFT122	Hypocalcemia	HP:0002901
55764	IFT122	Finger syndactyly	HP:0006101
55764	IFT122	Frontal bossing	HP:0002007
55764	IFT122	Hypotelorism	HP:0000601
55764	IFT122	Sagittal craniosynostosis	HP:0004442
55764	IFT122	High palate	HP:0000218
55764	IFT122	Fibular hypoplasia	HP:0003038
55764	IFT122	Everted lower lip vermilion	HP:0000232
55764	IFT122	Joint laxity	HP:0001388
55764	IFT122	Bicuspid aortic valve	HP:0001647
55764	IFT122	Clinodactyly of the 5th finger	HP:0004209
55764	IFT122	Hepatic fibrosis	HP:0001395
55764	IFT122	Hepatic failure	HP:0001399
55764	IFT122	Radial deviation of finger	HP:0009466
55764	IFT122	Telecanthus	HP:0000506
55764	IFT122	Pectus excavatum	HP:0000767
55764	IFT122	Flattened epiphysis	HP:0003071
55764	IFT122	Nystagmus	HP:0000639
55764	IFT122	Hepatic cysts	HP:0001407
22999	RIMS1	Bull's eye maculopathy	HP:0011504
22999	RIMS1	Cone/cone-rod dystrophy	HP:0000548
22999	RIMS1	Photophobia	HP:0000613
22999	RIMS1	Nyctalopia	HP:0000662
22999	RIMS1	Autosomal dominant inheritance	HP:0000006
22999	RIMS1	Color vision defect	HP:0000551
22999	RIMS1	Abnormality of retinal pigmentation	HP:0007703
22999	RIMS1	Visual impairment	HP:0000505
22999	RIMS1	Retinal flecks	HP:0012045
6616	SNAP25	Pectus carinatum	HP:0000768
6616	SNAP25	Narrow jaw	HP:0012801
6616	SNAP25	EMG: myopathic abnormalities	HP:0003458
6616	SNAP25	Bulbar palsy	HP:0001283
6616	SNAP25	Areflexia	HP:0001284
6616	SNAP25	Autosomal dominant inheritance	HP:0000006
6616	SNAP25	Central hypotonia	HP:0011398
6616	SNAP25	Motor polyneuropathy	HP:0007178
6616	SNAP25	Diplopia	HP:0000651
6616	SNAP25	Fatigable weakness	HP:0003473
6616	SNAP25	Toe walking	HP:0040083
6616	SNAP25	Long face	HP:0000276
6616	SNAP25	Episodic respiratory distress	HP:0004885
6616	SNAP25	Decreased fetal movement	HP:0001558
6616	SNAP25	Sensorineural hearing impairment	HP:0000407
6616	SNAP25	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
6616	SNAP25	Polyhydramnios	HP:0001561
6616	SNAP25	Recurrent respiratory infections	HP:0002205
6616	SNAP25	Poor speech	HP:0002465
6616	SNAP25	Central sleep apnea	HP:0010536
6616	SNAP25	Muscle weakness	HP:0001324
6616	SNAP25	Respiratory insufficiency	HP:0002093
6616	SNAP25	Difficulty walking	HP:0002355
6616	SNAP25	Microretrognathia	HP:0000308
6616	SNAP25	Esotropia	HP:0000565
6616	SNAP25	Frontalis muscle weakness	HP:0004661
6616	SNAP25	Obstructive sleep apnea	HP:0002870
6616	SNAP25	Respiratory arrest	HP:0005943
6616	SNAP25	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
6616	SNAP25	Staring gaze	HP:0025401
6616	SNAP25	Easy fatigability	HP:0003388
6616	SNAP25	EMG: impaired neuromuscular transmission	HP:0100285
6616	SNAP25	Kyphoscoliosis	HP:0002751
6616	SNAP25	Cyanosis	HP:0000961
6616	SNAP25	Sudden episodic apnea	HP:0002882
6616	SNAP25	Stridor	HP:0010307
6616	SNAP25	Muscle fiber atrophy	HP:0100295
6616	SNAP25	Nasal speech	HP:0001611
6616	SNAP25	Weak cry	HP:0001612
6616	SNAP25	Nasal regurgitation	HP:0011469
6616	SNAP25	Dysphonia	HP:0001618
6616	SNAP25	Neck muscle weakness	HP:0000467
6616	SNAP25	Waddling gait	HP:0002515
6616	SNAP25	EEG with polyspike wave complexes	HP:0002392
6616	SNAP25	High palate	HP:0000218
6616	SNAP25	Ophthalmoplegia	HP:0000602
6616	SNAP25	Flexion contracture	HP:0001371
6616	SNAP25	Distal lower limb muscle weakness	HP:0009053
6616	SNAP25	Congenital hip dislocation	HP:0001374
6616	SNAP25	Dysphagia	HP:0002015
6616	SNAP25	Pes cavus	HP:0001761
6616	SNAP25	Intellectual disability	HP:0001249
6616	SNAP25	Seizures	HP:0001250
6616	SNAP25	Ataxia	HP:0001251
6616	SNAP25	Gastroesophageal reflux	HP:0002020
6616	SNAP25	Spinal rigidity	HP:0003306
6616	SNAP25	Dysarthria	HP:0001260
6616	SNAP25	Joint laxity	HP:0001388
6616	SNAP25	Distal amyotrophy	HP:0003693
6616	SNAP25	Global developmental delay	HP:0001263
6616	SNAP25	Low-set ears	HP:0000369
6616	SNAP25	Poor suck	HP:0002033
6616	SNAP25	Hyporeflexia	HP:0001265
6616	SNAP25	Arthrogryposis multiplex congenita	HP:0002804
6616	SNAP25	Proximal muscle weakness	HP:0003701
6616	SNAP25	Poor head control	HP:0002421
6616	SNAP25	Motor delay	HP:0001270
6616	SNAP25	Congenital onset	HP:0003577
6616	SNAP25	Choking episodes	HP:0030842
6616	SNAP25	Spinal deformities	HP:0008443
6616	SNAP25	Ptosis	HP:0000508
6616	SNAP25	Generalized muscle weakness	HP:0003324
6616	SNAP25	Limb-girdle muscle weakness	HP:0003325
6616	SNAP25	Nystagmus	HP:0000639
55768	NGLY1	Athetosis	HP:0002305
55768	NGLY1	Decreased CSF/serum albumin ratio	HP:0030978
55768	NGLY1	Corneal ulceration	HP:0012804
55768	NGLY1	Reduced brain glutamine level by MRS	HP:0030980
55768	NGLY1	Autosomal recessive inheritance	HP:0000007
55768	NGLY1	Alacrima	HP:0000522
55768	NGLY1	Generalized hypotonia	HP:0001290
55768	NGLY1	Narrow face	HP:0000275
55768	NGLY1	Corneal opacity	HP:0007957
55768	NGLY1	Chorea	HP:0002072
55768	NGLY1	Fever	HP:0001945
55768	NGLY1	Recurrent respiratory infections	HP:0002205
55768	NGLY1	Dysmetria	HP:0001310
55768	NGLY1	Delayed myelination	HP:0012448
55768	NGLY1	Elevated brain choline level by MRS	HP:0012706
55768	NGLY1	Reduced brain N-acetyl aspartate level by MRS	HP:0012708
55768	NGLY1	Central sleep apnea	HP:0010536
55768	NGLY1	Facial hypotonia	HP:0000297
55768	NGLY1	Action tremor	HP:0002345
55768	NGLY1	Impaired oral bolus formation	HP:0031146
55768	NGLY1	Osteoporosis	HP:0000939
55768	NGLY1	Respiratory distress	HP:0002098
55768	NGLY1	Hyperkinesis	HP:0002487
55768	NGLY1	Myoclonus	HP:0001336
55768	NGLY1	Single transverse palmar crease	HP:0000954
55768	NGLY1	Suck reflex	HP:0030906
55768	NGLY1	Impaired oropharyngeal swallow response	HP:0031162
55768	NGLY1	Hypertelorism	HP:0000316
55768	NGLY1	Hepatomegaly	HP:0002240
55768	NGLY1	Restlessness	HP:0000711
55768	NGLY1	Anhidrosis	HP:0000970
55768	NGLY1	Oral-pharyngeal dysphagia	HP:0200136
55768	NGLY1	Hyperhidrosis	HP:0000975
55768	NGLY1	Anteverted nares	HP:0000463
55768	NGLY1	Sunken cheeks	HP:0009938
55768	NGLY1	Scoliosis	HP:0002650
55768	NGLY1	Elevated hepatic transaminase	HP:0002910
55768	NGLY1	Seizures	HP:0001250
55768	NGLY1	Decreased body weight	HP:0004325
55768	NGLY1	Strabismus	HP:0000486
55768	NGLY1	Increased serum lactate	HP:0002151
55768	NGLY1	Perivascular spaces	HP:0012520
55768	NGLY1	Short foot	HP:0001773
55768	NGLY1	Pain insensitivity	HP:0007021
55768	NGLY1	Elevated alpha-fetoprotein	HP:0006254
55768	NGLY1	Global developmental delay	HP:0001263
55768	NGLY1	Decreased CSF 5-hydroxyindolacetic acid	HP:0025455
55768	NGLY1	Hyporeflexia	HP:0001265
55768	NGLY1	Decreased CSF albumin concentration	HP:0025458
55768	NGLY1	Pain	HP:0012531
55768	NGLY1	High myoinositol in brain by MRS	HP:0025460
55768	NGLY1	Small hand	HP:0200055
55768	NGLY1	Polyneuropathy	HP:0001271
55768	NGLY1	Brachycephaly	HP:0000248
55768	NGLY1	Decreased sensory nerve conduction velocity	HP:0003448
55768	NGLY1	Intrinsic hand muscle atrophy	HP:0008954
55768	NGLY1	Microcephaly	HP:0000252
55768	NGLY1	Ptosis	HP:0000508
23001	WDFY3	Autosomal dominant inheritance	HP:0000006
23001	WDFY3	Intellectual disability, moderate	HP:0002342
23001	WDFY3	Intellectual disability, mild	HP:0001256
23001	WDFY3	Microcephaly	HP:0000252
80347	COASY	Neurodegeneration	HP:0002180
80347	COASY	Autosomal recessive inheritance	HP:0000007
80347	COASY	Developmental regression	HP:0002376
80347	COASY	Spastic paraparesis	HP:0002313
80347	COASY	Depressivity	HP:0000716
80347	COASY	Spastic tetraplegia	HP:0002510
80347	COASY	Rigidity	HP:0002063
80347	COASY	Oromandibular dystonia	HP:0012048
80347	COASY	Obsessive-compulsive behavior	HP:0000722
80347	COASY	Toe walking	HP:0040083
80347	COASY	Bradykinesia	HP:0002067
80347	COASY	Sloping forehead	HP:0000340
80347	COASY	Parkinsonism	HP:0001300
80347	COASY	Peripheral axonal neuropathy	HP:0003477
80347	COASY	Eye of the tiger anomaly of globus pallidus	HP:0002454
80347	COASY	Cerebral hypoplasia	HP:0006872
80347	COASY	Motor axonal neuropathy	HP:0007002
80347	COASY	Micrognathia	HP:0000347
80347	COASY	Progressive	HP:0003676
80347	COASY	Hypoplasia of the corpus callosum	HP:0002079
80347	COASY	Pes cavus	HP:0001761
80347	COASY	Abnormal caudate nucleus morphology	HP:0002339
80347	COASY	Abnormality of thalamus morphology	HP:0010663
80347	COASY	Cerebellar hypoplasia	HP:0001321
80347	COASY	Dysarthria	HP:0001260
80347	COASY	Distal amyotrophy	HP:0003693
80347	COASY	Global developmental delay	HP:0001263
80347	COASY	Hyporeflexia	HP:0001265
80347	COASY	Death in infancy	HP:0001522
80347	COASY	Difficulty walking	HP:0002355
80347	COASY	Mental deterioration	HP:0001268
80347	COASY	Congenital onset	HP:0003577
80347	COASY	Hypoplasia of the brainstem	HP:0002365
80347	COASY	Cognitive impairment	HP:0100543
6620	SNCB	Parkinsonism	HP:0001300
6620	SNCB	Autosomal dominant inheritance	HP:0000006
6620	SNCB	Dementia	HP:0000726
6620	SNCB	Fluctuations in consciousness	HP:0007159
6620	SNCB	Lewy bodies	HP:0100315
6620	SNCB	Delusions	HP:0000746
6620	SNCB	Visual hallucinations	HP:0002367
55773	TBC1D23	Skeletal muscle atrophy	HP:0003202
55773	TBC1D23	Poor coordination	HP:0002370
55773	TBC1D23	Seizures	HP:0001250
55773	TBC1D23	Spasticity	HP:0001257
55773	TBC1D23	Generalized hypotonia	HP:0001290
55773	TBC1D23	Inability to walk	HP:0002540
55773	TBC1D23	Dysarthria	HP:0001260
55773	TBC1D23	Coloboma	HP:0000589
55773	TBC1D23	Delayed speech and language development	HP:0000750
55773	TBC1D23	Global developmental delay	HP:0001263
55773	TBC1D23	Intellectual disability, severe	HP:0010864
55773	TBC1D23	Poor eye contact	HP:0000817
55773	TBC1D23	Happy demeanor	HP:0040082
55773	TBC1D23	Difficulty walking	HP:0002355
55773	TBC1D23	Esotropia	HP:0000565
55773	TBC1D23	Limb ataxia	HP:0002070
55773	TBC1D23	Broad-based gait	HP:0002136
55773	TBC1D23	Hypermetropia	HP:0000540
55773	TBC1D23	Stereotypy	HP:0000733
55773	TBC1D23	Hypoplasia of the corpus callosum	HP:0002079
23005	MAPKBP1	Variable expressivity	HP:0003828
23005	MAPKBP1	Autosomal recessive inheritance	HP:0000007
23005	MAPKBP1	Nephronophthisis	HP:0000090
23005	MAPKBP1	Renal cyst	HP:0000107
23005	MAPKBP1	Progressive	HP:0003676
23005	MAPKBP1	Stage 5 chronic kidney disease	HP:0003774
6622	SNCA	Akinesia	HP:0002304
6622	SNCA	Slow saccadic eye movements	HP:0000514
6622	SNCA	Insidious onset	HP:0003587
6622	SNCA	Autosomal dominant inheritance	HP:0000006
6622	SNCA	Diplopia	HP:0000651
6622	SNCA	Neurogenic bladder	HP:0000011
6622	SNCA	Urinary urgency	HP:0000012
6622	SNCA	Middle age onset	HP:0003596
6622	SNCA	Rigidity	HP:0002063
6622	SNCA	Schizophrenia	HP:0100753
6622	SNCA	Resting tremor	HP:0002322
6622	SNCA	Bradykinesia	HP:0002067
6622	SNCA	Parkinsonism	HP:0001300
6622	SNCA	Babinski sign	HP:0003487
6622	SNCA	Weight loss	HP:0001824
6622	SNCA	Intention tremor	HP:0002080
6622	SNCA	Chronic constipation	HP:0012450
6622	SNCA	Micrographia	HP:0031908
6622	SNCA	Abnormal autonomic nervous system physiology	HP:0012332
6622	SNCA	Dystonia	HP:0001332
6622	SNCA	Dyskinesia	HP:0100660
6622	SNCA	Frequent falls	HP:0002359
6622	SNCA	Sleep disturbance	HP:0002360
6622	SNCA	Substantia nigra gliosis	HP:0011960
6622	SNCA	Myoclonus	HP:0001336
6622	SNCA	Hyposmia	HP:0004409
6622	SNCA	Shuffling gait	HP:0002362
6622	SNCA	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
6622	SNCA	Visual hallucinations	HP:0002367
6622	SNCA	Muscle spasm	HP:0003394
6622	SNCA	Hyperreflexia	HP:0001347
6622	SNCA	Hypokinesia	HP:0002375
6622	SNCA	Cerebral cortical atrophy	HP:0002120
6622	SNCA	Agitation	HP:0000713
6622	SNCA	Monotonic speech	HP:0031435
6622	SNCA	Depressivity	HP:0000716
6622	SNCA	Hypomimic face	HP:0000338
6622	SNCA	Dementia	HP:0000726
6622	SNCA	Lewy bodies	HP:0100315
6622	SNCA	Spastic/hyperactive bladder	HP:0005340
6622	SNCA	Progressive	HP:0003676
6622	SNCA	Rapidly progressive	HP:0003678
6622	SNCA	Dysphagia	HP:0002015
6622	SNCA	Paranoia	HP:0011999
6622	SNCA	Talipes equinovarus	HP:0001762
6622	SNCA	Hallucinations	HP:0000738
6622	SNCA	Apathy	HP:0000741
6622	SNCA	Impulsivity	HP:0100710
6622	SNCA	Low frustration tolerance	HP:0000744
6622	SNCA	Spasticity	HP:0001257
6622	SNCA	Delusions	HP:0000746
6622	SNCA	Dysarthria	HP:0001260
6622	SNCA	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
6622	SNCA	Mental deterioration	HP:0001268
6622	SNCA	Fluctuations in consciousness	HP:0007159
6622	SNCA	Gliosis	HP:0002171
6622	SNCA	Postural instability	HP:0002172
6622	SNCA	Orthostatic hypotension	HP:0001278
55775	TDP1	Spastic dysarthria	HP:0002464
55775	TDP1	Gaze-evoked nystagmus	HP:0000640
55775	TDP1	Pes cavus	HP:0001761
55775	TDP1	Hypoalbuminemia	HP:0003073
55775	TDP1	Seizures	HP:0001250
55775	TDP1	Ataxia	HP:0001251
55775	TDP1	Areflexia	HP:0001284
55775	TDP1	Sensorimotor neuropathy	HP:0007141
55775	TDP1	Autosomal recessive inheritance	HP:0000007
55775	TDP1	Spinocerebellar tract degeneration	HP:0002503
55775	TDP1	Cerebellar vermis atrophy	HP:0006855
55775	TDP1	Impaired distal proprioception	HP:0006858
55775	TDP1	Global brain atrophy	HP:0002283
55775	TDP1	Distal amyotrophy	HP:0003693
55775	TDP1	Pain insensitivity	HP:0007021
55775	TDP1	Steppage gait	HP:0003376
55775	TDP1	Hypercholesterolemia	HP:0003124
55775	TDP1	Peripheral axonal neuropathy	HP:0003477
55775	TDP1	Impaired vibration sensation in the lower limbs	HP:0002166
55775	TDP1	Distal lower limb muscle weakness	HP:0009053
203228	C9ORF72	Bulbar palsy	HP:0001283
203228	C9ORF72	Collectionism	HP:0030212
203228	C9ORF72	Emotional blunting	HP:0030213
203228	C9ORF72	Autosomal dominant inheritance	HP:0000006
203228	C9ORF72	Gait disturbance	HP:0001288
203228	C9ORF72	Degeneration of the lateral corticospinal tracts	HP:0002314
203228	C9ORF72	Cerebral atrophy	HP:0002059
203228	C9ORF72	Visual agnosia	HP:0030222
203228	C9ORF72	Perseveration	HP:0030223
203228	C9ORF72	Rigidity	HP:0002063
203228	C9ORF72	Parkinsonism	HP:0001300
203228	C9ORF72	Generalized tonic-clonic seizures	HP:0002069
203228	C9ORF72	Neuronal loss in the cerebral cortex	HP:0007190
203228	C9ORF72	Abnormality of extrapyramidal motor function	HP:0002071
203228	C9ORF72	Chorea	HP:0002072
203228	C9ORF72	Progressive cerebellar ataxia	HP:0002073
203228	C9ORF72	Dyslexia	HP:0010522
203228	C9ORF72	Alexia	HP:0010523
203228	C9ORF72	Dysgraphia	HP:0010526
203228	C9ORF72	Echolalia	HP:0010529
203228	C9ORF72	Muscle weakness	HP:0001324
203228	C9ORF72	Dyspnea	HP:0002094
203228	C9ORF72	Memory impairment	HP:0002354
203228	C9ORF72	Dystonia	HP:0001332
203228	C9ORF72	Dysphasia	HP:0002357
203228	C9ORF72	Myoclonus	HP:0001336
203228	C9ORF72	Tremor	HP:0001337
203228	C9ORF72	Abnormal lower motor neuron morphology	HP:0002366
203228	C9ORF72	Respiratory failure	HP:0002878
203228	C9ORF72	Anomia	HP:0030784
203228	C9ORF72	Grammar-specific speech disorder	HP:0006977
203228	C9ORF72	Muscle spasm	HP:0003394
203228	C9ORF72	Loss of speech	HP:0002371
203228	C9ORF72	Hyperreflexia	HP:0001347
203228	C9ORF72	Fasciculations	HP:0002380
203228	C9ORF72	Aphasia	HP:0002381
203228	C9ORF72	Abnormal upper motor neuron morphology	HP:0002127
203228	C9ORF72	Laryngospasm	HP:0025425
203228	C9ORF72	Paraparesis	HP:0002385
203228	C9ORF72	Fatigue	HP:0012378
203228	C9ORF72	Supranuclear gaze palsy	HP:0000605
203228	C9ORF72	Rapidly progressive	HP:0003678
203228	C9ORF72	Frontotemporal dementia	HP:0002145
203228	C9ORF72	Abnormal brain FDG positron emission tomography	HP:0012658
203228	C9ORF72	Generalized amyotrophy	HP:0003700
203228	C9ORF72	Proximal muscle weakness	HP:0003701
203228	C9ORF72	Motor aphasia	HP:0002427
203228	C9ORF72	Gliosis	HP:0002171
203228	C9ORF72	Abulia	HP:0012671
203228	C9ORF72	Skeletal muscle atrophy	HP:0003202
203228	C9ORF72	Abnormal mitochondrial morphology	HP:0008322
203228	C9ORF72	Neurodegeneration	HP:0002180
203228	C9ORF72	Dyscalculia	HP:0002442
203228	C9ORF72	Apraxia	HP:0002186
203228	C9ORF72	Extrapyramidal dyskinesia	HP:0007308
203228	C9ORF72	Astrocytosis	HP:0002446
203228	C9ORF72	Paralysis	HP:0003470
203228	C9ORF72	Brain atrophy	HP:0012444
203228	C9ORF72	Distal muscle weakness	HP:0002460
203228	C9ORF72	Babinski sign	HP:0003487
203228	C9ORF72	Poor speech	HP:0002465
203228	C9ORF72	Senile plaques	HP:0100256
203228	C9ORF72	Bilateral sensorineural hearing impairment	HP:0008619
203228	C9ORF72	Spoken Word Recognition Deficit	HP:0030391
203228	C9ORF72	Amyotrophic lateral sclerosis	HP:0007354
203228	C9ORF72	Upper motor neuron dysfunction	HP:0002493
203228	C9ORF72	EEG with continuous slow activity	HP:0011204
203228	C9ORF72	Abnormality of the cerebral white matter	HP:0002500
203228	C9ORF72	Psychosis	HP:0000709
203228	C9ORF72	Hyperorality	HP:0000710
203228	C9ORF72	Restlessness	HP:0000711
203228	C9ORF72	Temporal cortical atrophy	HP:0007112
203228	C9ORF72	Emotional lability	HP:0000712
203228	C9ORF72	Agitation	HP:0000713
203228	C9ORF72	Depressivity	HP:0000716
203228	C9ORF72	Aggressive behavior	HP:0000718
203228	C9ORF72	Inappropriate behavior	HP:0000719
203228	C9ORF72	Restrictive behavior	HP:0000723
203228	C9ORF72	Dementia	HP:0000726
203228	C9ORF72	Xerostomia	HP:0000217
203228	C9ORF72	Thickened nuchal skin fold	HP:0000474
203228	C9ORF72	Stereotypy	HP:0000733
203228	C9ORF72	Disinhibition	HP:0000734
203228	C9ORF72	Dysphagia	HP:0002015
203228	C9ORF72	Irritability	HP:0000737
203228	C9ORF72	Nausea and vomiting	HP:0002017
203228	C9ORF72	Tetraparesis	HP:0002273
203228	C9ORF72	Neuronal loss in central nervous system	HP:0002529
203228	C9ORF72	Hallucinations	HP:0000738
203228	C9ORF72	Anxiety	HP:0000739
203228	C9ORF72	Ataxia	HP:0001251
203228	C9ORF72	Apathy	HP:0000741
203228	C9ORF72	Spasticity	HP:0001257
203228	C9ORF72	Delusions	HP:0000746
203228	C9ORF72	Global brain atrophy	HP:0002283
203228	C9ORF72	Frontotemporal cerebral atrophy	HP:0006892
203228	C9ORF72	Dysarthria	HP:0001260
203228	C9ORF72	Personality changes	HP:0000751
203228	C9ORF72	Hyporeflexia	HP:0001265
203228	C9ORF72	Fatigable weakness of swallowing muscles	HP:0030195
203228	C9ORF72	Pain	HP:0012531
203228	C9ORF72	Fatigable weakness of respiratory muscles	HP:0030196
203228	C9ORF72	Lack of insight	HP:0000757
203228	C9ORF72	Mutism	HP:0002300
203228	C9ORF72	Generalized muscle weakness	HP:0003324
203228	C9ORF72	Ptosis	HP:0000508
203228	C9ORF72	Adult onset	HP:0003581
100506658	OCLN	Hepatomegaly	HP:0002240
100506658	OCLN	Decreased liver function	HP:0001410
100506658	OCLN	Hyperreflexia	HP:0001347
100506658	OCLN	Cataract	HP:0000518
100506658	OCLN	Petechiae	HP:0000967
100506658	OCLN	Ventriculomegaly	HP:0002119
100506658	OCLN	Autosomal recessive inheritance	HP:0000007
100506658	OCLN	Cerebral cortical atrophy	HP:0002120
100506658	OCLN	Intellectual disability, profound	HP:0002187
100506658	OCLN	Polymicrogyria	HP:0002126
100506658	OCLN	Anteverted nares	HP:0000463
100506658	OCLN	Opacification of the corneal stroma	HP:0007759
100506658	OCLN	Splenomegaly	HP:0001744
100506658	OCLN	Thrombocytopenia	HP:0001873
100506658	OCLN	Cerebral calcification	HP:0002514
100506658	OCLN	Renal insufficiency	HP:0000083
100506658	OCLN	Sloping forehead	HP:0000340
100506658	OCLN	Pachygyria	HP:0001302
100506658	OCLN	Long philtrum	HP:0000343
100506658	OCLN	High palate	HP:0000218
100506658	OCLN	Elevated hepatic transaminase	HP:0002910
100506658	OCLN	Seizures	HP:0001250
100506658	OCLN	Failure to thrive	HP:0001508
100506658	OCLN	Muscular hypotonia of the trunk	HP:0008936
100506658	OCLN	Spasticity	HP:0001257
100506658	OCLN	Cerebellar hypoplasia	HP:0001321
100506658	OCLN	Increased CSF protein	HP:0002922
100506658	OCLN	Global developmental delay	HP:0001263
100506658	OCLN	Low-set ears	HP:0000369
100506658	OCLN	Microretrognathia	HP:0000308
100506658	OCLN	Jaundice	HP:0000952
100506658	OCLN	Microcephaly	HP:0000252
100506658	OCLN	Nystagmus	HP:0000639
55777	MBD5	Autosomal dominant inheritance	HP:0000006
55777	MBD5	Malar flattening	HP:0000272
55777	MBD5	Retrognathia	HP:0000278
55777	MBD5	Coarse facial features	HP:0000280
55777	MBD5	Synophrys	HP:0000664
55777	MBD5	Downturned corners of mouth	HP:0002714
55777	MBD5	Wide mouth	HP:0000154
55777	MBD5	Protruding ear	HP:0000411
55777	MBD5	Cryptorchidism	HP:0000028
55777	MBD5	Hypermetropia	HP:0000540
55777	MBD5	Bulbous nose	HP:0000414
55777	MBD5	Polyphagia	HP:0002591
55777	MBD5	Language impairment	HP:0002463
55777	MBD5	Hypoplasia of penis	HP:0008736
55777	MBD5	Myopia	HP:0000545
55777	MBD5	Macrodontia	HP:0001572
55777	MBD5	Feeding difficulties in infancy	HP:0008872
55777	MBD5	Widely spaced teeth	HP:0000687
55777	MBD5	Abnormality of lower lip	HP:0000178
55777	MBD5	Tented upper lip vermilion	HP:0010804
55777	MBD5	Esotropia	HP:0000565
55777	MBD5	Generalized hirsutism	HP:0002230
55777	MBD5	Short palm	HP:0004279
55777	MBD5	Sleep disturbance	HP:0002360
55777	MBD5	Sandal gap	HP:0001852
55777	MBD5	Thick eyebrow	HP:0000574
55777	MBD5	Prominent nose	HP:0000448
55777	MBD5	Postnatal growth retardation	HP:0008897
55777	MBD5	Open mouth	HP:0000194
55777	MBD5	Febrile seizures	HP:0002373
55777	MBD5	Short chin	HP:0000331
55777	MBD5	Aggressive behavior	HP:0000718
55777	MBD5	Broad forehead	HP:0000337
55777	MBD5	Frontal bossing	HP:0002007
55777	MBD5	Thin upper lip vermilion	HP:0000219
55777	MBD5	Micrognathia	HP:0000347
55777	MBD5	Stereotypy	HP:0000733
55777	MBD5	Short attention span	HP:0000736
55777	MBD5	Intellectual disability	HP:0001249
55777	MBD5	Short stature	HP:0004322
55777	MBD5	Seizures	HP:0001250
55777	MBD5	Constipation	HP:0002019
55777	MBD5	Ataxia	HP:0001251
55777	MBD5	Astigmatism	HP:0000483
55777	MBD5	Muscular hypotonia	HP:0001252
55777	MBD5	Microtia	HP:0008551
55777	MBD5	Everted lower lip vermilion	HP:0000232
55777	MBD5	Hip dysplasia	HP:0001385
55777	MBD5	Self-injurious behavior	HP:0100716
55777	MBD5	Paroxysmal bursts of laughter	HP:0000749
55777	MBD5	Short foot	HP:0001773
55777	MBD5	Delayed speech and language development	HP:0000750
55777	MBD5	Hyperactivity	HP:0000752
55777	MBD5	Intellectual disability, severe	HP:0010864
55777	MBD5	Clinodactyly of the 5th finger	HP:0004209
55777	MBD5	Low-set ears	HP:0000369
55777	MBD5	Small hand	HP:0200055
55777	MBD5	Motor delay	HP:0001270
55777	MBD5	Brachycephaly	HP:0000248
55777	MBD5	Highly arched eyebrow	HP:0002553
55777	MBD5	Visual impairment	HP:0000505
55777	MBD5	Cupped ear	HP:0000378
55777	MBD5	Microcephaly	HP:0000252
55777	MBD5	Short nose	HP:0003196
55779	CFAP44	Infertility	HP:0000789
6628	SNRPB	Multicystic kidney dysplasia	HP:0000003
6628	SNRPB	Autosomal dominant inheritance	HP:0000006
6628	SNRPB	Autosomal recessive inheritance	HP:0000007
6628	SNRPB	Thoracic hypoplasia	HP:0005257
6628	SNRPB	Anteriorly placed anus	HP:0001545
6628	SNRPB	Malar flattening	HP:0000272
6628	SNRPB	Hydranencephaly	HP:0002324
6628	SNRPB	Conductive hearing impairment	HP:0000405
6628	SNRPB	Polyhydramnios	HP:0001561
6628	SNRPB	Atresia of the external auditory canal	HP:0000413
6628	SNRPB	Epicanthus	HP:0000286
6628	SNRPB	Short humerus	HP:0005792
6628	SNRPB	Glossoptosis	HP:0000162
6628	SNRPB	Abnormality of the dentition	HP:0000164
6628	SNRPB	Myelomeningocele	HP:0002475
6628	SNRPB	Elbow flexion contracture	HP:0002987
6628	SNRPB	Cleft palate	HP:0000175
6628	SNRPB	Short hard palate	HP:0010290
6628	SNRPB	Bell-shaped thorax	HP:0001591
6628	SNRPB	Cleft soft palate	HP:0000185
6628	SNRPB	Feeding difficulties	HP:0011968
6628	SNRPB	Anomalous rib insertion to vertebrae	HP:0006593
6628	SNRPB	Postnatal growth retardation	HP:0008897
6628	SNRPB	Rib gap	HP:0030280
6628	SNRPB	Posterior rib gap	HP:0030282
6628	SNRPB	Nasal speech	HP:0001611
6628	SNRPB	Webbed neck	HP:0000465
6628	SNRPB	Cerebral calcification	HP:0002514
6628	SNRPB	Neonatal respiratory distress	HP:0002643
6628	SNRPB	Porencephalic cyst	HP:0002132
6628	SNRPB	Horseshoe kidney	HP:0000085
6628	SNRPB	Ectopic kidney	HP:0000086
6628	SNRPB	Long philtrum	HP:0000343
6628	SNRPB	Calcaneal epiphyseal stippling	HP:0004695
6628	SNRPB	High palate	HP:0000218
6628	SNRPB	Scoliosis	HP:0002650
6628	SNRPB	Micrognathia	HP:0000347
6628	SNRPB	Tracheomalacia	HP:0002779
6628	SNRPB	Ventricular septal defect	HP:0001629
6628	SNRPB	Congenital hip dislocation	HP:0001374
6628	SNRPB	Atrial septal defect	HP:0001631
6628	SNRPB	Intellectual disability	HP:0001249
6628	SNRPB	Short stature	HP:0004322
6628	SNRPB	Gastroesophageal reflux	HP:0002020
6628	SNRPB	Posteriorly rotated ears	HP:0000358
6628	SNRPB	Intrauterine growth retardation	HP:0001511
6628	SNRPB	Anal stenosis	HP:0002025
6628	SNRPB	Patent ductus arteriosus	HP:0001643
6628	SNRPB	Renal cyst	HP:0000107
6628	SNRPB	11 pairs of ribs	HP:0000878
6628	SNRPB	Clinodactyly of the 5th finger	HP:0004209
6628	SNRPB	Low-set ears	HP:0000369
6628	SNRPB	Death in infancy	HP:0001522
6628	SNRPB	Anomalous tracheal cartilage	HP:0004468
6628	SNRPB	Kyphosis	HP:0002808
6628	SNRPB	Microcephaly	HP:0000252
55780	ERMARD	Macrocephaly	HP:0000256
55780	ERMARD	Hyperkeratosis	HP:0000962
55780	ERMARD	Gynecomastia	HP:0000771
55780	ERMARD	Clinodactyly	HP:0030084
55780	ERMARD	Autosomal dominant inheritance	HP:0000006
55780	ERMARD	Short palpebral fissure	HP:0012745
55780	ERMARD	Dolichocephaly	HP:0000268
55780	ERMARD	Phimosis	HP:0001741
55780	ERMARD	Plagiocephaly	HP:0001357
55780	ERMARD	Polymicrogyria	HP:0002126
55780	ERMARD	Abnormal facial shape	HP:0001999
55780	ERMARD	High, narrow palate	HP:0002705
55780	ERMARD	Gait ataxia	HP:0002066
55780	ERMARD	Wide intermamillary distance	HP:0006610
55780	ERMARD	Prominent forehead	HP:0011220
55780	ERMARD	Short neck	HP:0000470
55780	ERMARD	Hypsarrhythmia	HP:0002521
55780	ERMARD	Scoliosis	HP:0002650
55780	ERMARD	Micrognathia	HP:0000347
55780	ERMARD	Hypermetropia	HP:0000540
55780	ERMARD	Talipes calcaneovalgus	HP:0001884
55780	ERMARD	Dysmetria	HP:0001310
55780	ERMARD	Hallux valgus	HP:0001822
55780	ERMARD	Hypoplasia of the corpus callosum	HP:0002079
55780	ERMARD	Colpocephaly	HP:0030048
55780	ERMARD	Broad philtrum	HP:0000289
55780	ERMARD	Seizures	HP:0001250
55780	ERMARD	Failure to thrive	HP:0001508
55780	ERMARD	Strabismus	HP:0000486
55780	ERMARD	Low anterior hairline	HP:0000294
55780	ERMARD	Intellectual disability, mild	HP:0001256
55780	ERMARD	Cerebellar hypoplasia	HP:0001321
55780	ERMARD	Obesity	HP:0001513
55780	ERMARD	Gray matter heterotopia	HP:0002282
55780	ERMARD	Joint laxity	HP:0001388
55780	ERMARD	Delayed speech and language development	HP:0000750
55780	ERMARD	Prominent metopic ridge	HP:0005487
55780	ERMARD	Global developmental delay	HP:0001263
55780	ERMARD	Hypospadias	HP:0000047
55780	ERMARD	Low-set, posteriorly rotated ears	HP:0000368
55780	ERMARD	Infantile muscular hypotonia	HP:0008947
55780	ERMARD	Thick vermilion border	HP:0012471
55780	ERMARD	Aplasia/Hypoplasia of the ribs	HP:0006712
55780	ERMARD	Highly arched eyebrow	HP:0002553
55780	ERMARD	Hypertelorism	HP:0000316
55780	ERMARD	Periventricular heterotopia	HP:0007165
55780	ERMARD	Nystagmus	HP:0000639
63976	PRDM16	Autosomal dominant inheritance	HP:0000006
63976	PRDM16	Cataract	HP:0000518
63976	PRDM16	Gait disturbance	HP:0001288
63976	PRDM16	Delayed cranial suture closure	HP:0000270
63976	PRDM16	Hemiplegia/hemiparesis	HP:0004374
63976	PRDM16	Midface retrusion	HP:0011800
63976	PRDM16	Abnormality of the anus	HP:0004378
63976	PRDM16	Cryptorchidism	HP:0000028
63976	PRDM16	Epicanthus	HP:0000286
63976	PRDM16	Polyphagia	HP:0002591
63976	PRDM16	Hypoplasia of penis	HP:0008736
63976	PRDM16	Foot polydactyly	HP:0001829
63976	PRDM16	Left ventricular dysfunction	HP:0005162
63976	PRDM16	Hypospadias	HP:0000047
63976	PRDM16	EEG abnormality	HP:0002353
63976	PRDM16	High hypermetropia	HP:0008499
63976	PRDM16	Pointed chin	HP:0000307
63976	PRDM16	Hypothyroidism	HP:0000821
63976	PRDM16	Abnormality of female external genitalia	HP:0000055
63976	PRDM16	Absent speech	HP:0001344
63976	PRDM16	Ventriculomegaly	HP:0002119
63976	PRDM16	Cerebral cortical atrophy	HP:0002120
63976	PRDM16	Abnormality of neutrophils	HP:0001874
63976	PRDM16	Ocular albinism	HP:0001107
63976	PRDM16	Long philtrum	HP:0000343
63976	PRDM16	Spinal canal stenosis	HP:0003416
63976	PRDM16	Scoliosis	HP:0002650
63976	PRDM16	Congestive heart failure	HP:0001635
63976	PRDM16	Tetralogy of Fallot	HP:0001636
63976	PRDM16	Microtia	HP:0008551
63976	PRDM16	Hip dysplasia	HP:0001385
63976	PRDM16	Patent ductus arteriosus	HP:0001643
63976	PRDM16	Renal cyst	HP:0000107
63976	PRDM16	Joint stiffness	HP:0001387
63976	PRDM16	Dilated cardiomyopathy	HP:0001644
63976	PRDM16	Self-injurious behavior	HP:0100716
63976	PRDM16	11 pairs of ribs	HP:0000878
63976	PRDM16	Low-set, posteriorly rotated ears	HP:0000368
63976	PRDM16	Clinodactyly of the 5th finger	HP:0004209
63976	PRDM16	Mitral regurgitation	HP:0001653
63976	PRDM16	Hepatic steatosis	HP:0001397
63976	PRDM16	Abnormal heart valve morphology	HP:0001654
63976	PRDM16	Bifid ribs	HP:0000892
63976	PRDM16	Myopathy	HP:0003198
63976	PRDM16	Hydronephrosis	HP:0000126
63976	PRDM16	Nystagmus	HP:0000639
63976	PRDM16	EMG abnormality	HP:0003457
63976	PRDM16	Abnormal blistering of the skin	HP:0008066
63976	PRDM16	Brachydactyly	HP:0001156
63976	PRDM16	Rib fusion	HP:0000902
63976	PRDM16	Hypogonadism	HP:0000135
63976	PRDM16	Abnormal cardiac septum morphology	HP:0001671
63976	PRDM16	Optic atrophy	HP:0000648
63976	PRDM16	Camptodactyly of finger	HP:0100490
63976	PRDM16	Conductive hearing impairment	HP:0000405
63976	PRDM16	Sensorineural hearing impairment	HP:0000407
63976	PRDM16	Arrhythmia	HP:0011675
63976	PRDM16	Narrow mouth	HP:0000160
63976	PRDM16	Depressed nasal bridge	HP:0005280
63976	PRDM16	Poor speech	HP:0002465
63976	PRDM16	Elevated serum creatine kinase	HP:0003236
63976	PRDM16	Cranial nerve paralysis	HP:0006824
63976	PRDM16	Feeding difficulties in infancy	HP:0008872
63976	PRDM16	Abnormal left ventricle morphology	HP:0001711
63976	PRDM16	Wide nasal bridge	HP:0000431
63976	PRDM16	Generalized hirsutism	HP:0002230
63976	PRDM16	Macule	HP:0012733
63976	PRDM16	Neuroblastoma	HP:0003006
63976	PRDM16	Abnormal intestine morphology	HP:0002242
63976	PRDM16	Annular pancreas	HP:0001734
63976	PRDM16	Depressed nasal ridge	HP:0000457
63976	PRDM16	Autism	HP:0000717
63976	PRDM16	Lower limb asymmetry	HP:0100559
63976	PRDM16	Abnormality of the spleen	HP:0001743
63976	PRDM16	Abnormality of the neck	HP:0000464
63976	PRDM16	Palmoplantar keratoderma	HP:0000982
63976	PRDM16	Frontal bossing	HP:0002007
63976	PRDM16	Left ventricular noncompaction	HP:0030682
63976	PRDM16	Horizontal eyebrow	HP:0011228
63976	PRDM16	Stereotypy	HP:0000733
63976	PRDM16	Dysphagia	HP:0002015
63976	PRDM16	Intellectual disability	HP:0001249
63976	PRDM16	Seizures	HP:0001250
63976	PRDM16	Short stature	HP:0004322
63976	PRDM16	Lipoatrophy	HP:0100578
63976	PRDM16	Constipation	HP:0002019
63976	PRDM16	Failure to thrive	HP:0001508
63976	PRDM16	Gastroesophageal reflux	HP:0002020
63976	PRDM16	Muscular hypotonia	HP:0001252
63976	PRDM16	Pyloric stenosis	HP:0002021
63976	PRDM16	Strabismus	HP:0000486
63976	PRDM16	Obesity	HP:0001513
63976	PRDM16	Deeply set eye	HP:0000490
63976	PRDM16	Short foot	HP:0001773
63976	PRDM16	Global developmental delay	HP:0001263
63976	PRDM16	Telangiectasia	HP:0001009
63976	PRDM16	Brachycephaly	HP:0000248
63976	PRDM16	Kyphosis	HP:0002808
63976	PRDM16	Visual impairment	HP:0000505
63976	PRDM16	Aortic arch aneurysm	HP:0005113
63976	PRDM16	Agenesis of corpus callosum	HP:0001274
63976	PRDM16	Microcephaly	HP:0000252
55784	MCTP2	Small nail	HP:0001792
55784	MCTP2	Multicystic kidney dysplasia	HP:0000003
55784	MCTP2	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	HP:0011651
55784	MCTP2	Abnormal cardiac septum morphology	HP:0001671
55784	MCTP2	Congenital diaphragmatic hernia	HP:0000776
55784	MCTP2	Hip dislocation	HP:0002827
55784	MCTP2	Abnormal aortic arch morphology	HP:0012303
55784	MCTP2	Coarctation of aorta	HP:0001680
55784	MCTP2	Decreased serum insulin-like growth factor 1	HP:0030353
55784	MCTP2	Coarse facial features	HP:0000280
55784	MCTP2	Short distal phalanx of finger	HP:0009882
55784	MCTP2	Cryptorchidism	HP:0000028
55784	MCTP2	Hypoplastic left heart	HP:0004383
55784	MCTP2	Abnormality of the dentition	HP:0000164
55784	MCTP2	Mitral atresia	HP:0011560
55784	MCTP2	Genu valgum	HP:0002857
55784	MCTP2	Pulmonary hypoplasia	HP:0002089
55784	MCTP2	Single umbilical artery	HP:0001195
55784	MCTP2	Hypospadias	HP:0000047
55784	MCTP2	Cleft palate	HP:0000175
55784	MCTP2	Micropenis	HP:0000054
55784	MCTP2	Mitral stenosis	HP:0001718
55784	MCTP2	Bifid tongue	HP:0010297
55784	MCTP2	Single transverse palmar crease	HP:0000954
55784	MCTP2	Hypertelorism	HP:0000316
55784	MCTP2	Abnormal localization of kidney	HP:0100542
55784	MCTP2	Postnatal growth retardation	HP:0008897
55784	MCTP2	Short philtrum	HP:0000322
55784	MCTP2	Blepharophimosis	HP:0000581
55784	MCTP2	Triangular face	HP:0000325
55784	MCTP2	Upslanted palpebral fissure	HP:0000582
55784	MCTP2	Low 1-minute APGAR score	HP:0030918
55784	MCTP2	Broad nasal tip	HP:0000455
55784	MCTP2	Generalized joint laxity	HP:0002761
55784	MCTP2	2-3 toe cutaneous syndactyly	HP:0005709
55784	MCTP2	Finger clinodactyly	HP:0040019
55784	MCTP2	Autistic behavior	HP:0000729
55784	MCTP2	Thin upper lip vermilion	HP:0000219
55784	MCTP2	Micrognathia	HP:0000347
55784	MCTP2	Cystic hygroma	HP:0000476
55784	MCTP2	Flat occiput	HP:0005469
55784	MCTP2	Seizures	HP:0001250
55784	MCTP2	Short stature	HP:0004322
55784	MCTP2	Talipes equinovarus	HP:0001762
55784	MCTP2	Failure to thrive	HP:0001508
55784	MCTP2	Strabismus	HP:0000486
55784	MCTP2	Intrauterine growth retardation	HP:0001511
55784	MCTP2	Attention deficit hyperactivity disorder	HP:0007018
55784	MCTP2	Patent ductus arteriosus	HP:0001643
55784	MCTP2	Hearing impairment	HP:0000365
55784	MCTP2	Small for gestational age	HP:0001518
55784	MCTP2	Delayed speech and language development	HP:0000750
55784	MCTP2	Bicuspid aortic valve	HP:0001647
55784	MCTP2	Global developmental delay	HP:0001263
55784	MCTP2	Low-set ears	HP:0000369
55784	MCTP2	Small hand	HP:0200055
55784	MCTP2	Aplasia cutis congenita over the scalp vertex	HP:0004471
55784	MCTP2	Microcephaly	HP:0000252
6635	SNRPE	Sparse or absent eyelashes	HP:0200102
6635	SNRPE	Autosomal dominant inheritance	HP:0000006
6635	SNRPE	Sparse and thin eyebrow	HP:0000535
6635	SNRPE	Sparse body hair	HP:0002231
6635	SNRPE	Aplasia/Hypoplasia of the eyebrow	HP:0100840
6635	SNRPE	Alopecia	HP:0001596
6635	SNRPE	Sparse eyelashes	HP:0000653
6635	SNRPE	Absent axillary hair	HP:0002221
6635	SNRPE	Hypotrichosis of the scalp	HP:0004782
6635	SNRPE	Hypotrichosis	HP:0001006
23020	SNRNP200	Abnormal electroretinogram	HP:0000512
23020	SNRNP200	Hyperreflexia	HP:0001347
23020	SNRNP200	Autosomal dominant inheritance	HP:0000006
23020	SNRNP200	Cataract	HP:0000518
23020	SNRNP200	Hypogonadism	HP:0000135
23020	SNRNP200	Optic atrophy	HP:0000648
23020	SNRNP200	Hyperinsulinemia	HP:0000842
23020	SNRNP200	Anteverted nares	HP:0000463
23020	SNRNP200	Conductive hearing impairment	HP:0000405
23020	SNRNP200	Nyctalopia	HP:0000662
23020	SNRNP200	Sensorineural hearing impairment	HP:0000407
23020	SNRNP200	Abnormality of retinal pigmentation	HP:0007703
23020	SNRNP200	Ophthalmoplegia	HP:0000602
23020	SNRNP200	Type II diabetes mellitus	HP:0005978
23020	SNRNP200	Atypical scarring of skin	HP:0000987
23020	SNRNP200	Optic disc pallor	HP:0000543
23020	SNRNP200	Hypoplasia of penis	HP:0008736
23020	SNRNP200	Intellectual disability	HP:0001249
23020	SNRNP200	Attenuation of retinal blood vessels	HP:0007843
23020	SNRNP200	Abnormal testis morphology	HP:0000035
23020	SNRNP200	Photophobia	HP:0000613
23020	SNRNP200	Obesity	HP:0001513
23020	SNRNP200	Retinal pigment epithelial atrophy	HP:0007722
23020	SNRNP200	Blindness	HP:0000618
23020	SNRNP200	Abnormal retinal vascular morphology	HP:0008046
23020	SNRNP200	Wide nasal bridge	HP:0000431
23020	SNRNP200	Keratoconus	HP:0000563
23020	SNRNP200	Glaucoma	HP:0000501
23020	SNRNP200	Bone spicule pigmentation of the retina	HP:0007737
23020	SNRNP200	Visual impairment	HP:0000505
23020	SNRNP200	Progressive night blindness	HP:0007675
23020	SNRNP200	Rod-cone dystrophy	HP:0000510
23020	SNRNP200	Nystagmus	HP:0000639
55788	LMBRD1	Decreased methionine synthase activity	HP:0003524
55788	LMBRD1	Psychosis	HP:0000709
55788	LMBRD1	Incoordination	HP:0002311
55788	LMBRD1	Autosomal recessive inheritance	HP:0000007
55788	LMBRD1	Developmental regression	HP:0002376
55788	LMBRD1	Infantile onset	HP:0003593
55788	LMBRD1	Decreased adenosylcobalamin	HP:0003145
55788	LMBRD1	Generalized hypotonia	HP:0001290
55788	LMBRD1	Glossitis	HP:0000206
55788	LMBRD1	Thrombocytopenia	HP:0001873
55788	LMBRD1	Cystathioninuria	HP:0003153
55788	LMBRD1	Neutropenia	HP:0001875
55788	LMBRD1	Pancytopenia	HP:0001876
55788	LMBRD1	Cystathioninemia	HP:0003286
55788	LMBRD1	Decreased methylcobalamin	HP:0003223
55788	LMBRD1	Methylmalonic aciduria	HP:0012120
55788	LMBRD1	High palate	HP:0000218
55788	LMBRD1	Thin upper lip vermilion	HP:0000219
55788	LMBRD1	Skin rash	HP:0000988
55788	LMBRD1	Epicanthus	HP:0000286
55788	LMBRD1	Methylmalonic acidemia	HP:0002912
55788	LMBRD1	Megaloblastic anemia	HP:0001889
55788	LMBRD1	Seizures	HP:0001250
55788	LMBRD1	Ataxia	HP:0001251
55788	LMBRD1	Muscular hypotonia	HP:0001252
55788	LMBRD1	Failure to thrive	HP:0001508
55788	LMBRD1	Lethargy	HP:0001254
55788	LMBRD1	Microtia	HP:0008551
55788	LMBRD1	Stomatitis	HP:0010280
55788	LMBRD1	Feeding difficulties in infancy	HP:0008872
55788	LMBRD1	Homocystinuria	HP:0002156
55788	LMBRD1	Global developmental delay	HP:0001263
55788	LMBRD1	Hyperhomocystinemia	HP:0002160
55788	LMBRD1	Low-set ears	HP:0000369
55788	LMBRD1	Megaloblastic bone marrow	HP:0001980
6638	SNRPN	Clinodactyly	HP:0030084
6638	SNRPN	Acromicria	HP:0031878
6638	SNRPN	Syndactyly	HP:0001159
6638	SNRPN	Generalized hypotonia	HP:0001290
6638	SNRPN	Dolichocephaly	HP:0000268
6638	SNRPN	Heterogeneous	HP:0001425
6638	SNRPN	Primary amenorrhea	HP:0000786
6638	SNRPN	Multifactorial inheritance	HP:0001426
6638	SNRPN	Infertility	HP:0000789
6638	SNRPN	Decreased fetal movement	HP:0001558
6638	SNRPN	Downturned corners of mouth	HP:0002714
6638	SNRPN	Cryptorchidism	HP:0000028
6638	SNRPN	Hypermetropia	HP:0000540
6638	SNRPN	Recurrent respiratory infections	HP:0002205
6638	SNRPN	Carious teeth	HP:0000670
6638	SNRPN	Polyphagia	HP:0002591
6638	SNRPN	Impaired pain sensation	HP:0007328
6638	SNRPN	Sporadic	HP:0003745
6638	SNRPN	Myopia	HP:0000545
6638	SNRPN	Sleep apnea	HP:0010535
6638	SNRPN	Neonatal hypotonia	HP:0001319
6638	SNRPN	Genu valgum	HP:0002857
6638	SNRPN	Osteopenia	HP:0000938
6638	SNRPN	Osteoporosis	HP:0000939
6638	SNRPN	Hypogonadotrophic hypogonadism	HP:0000044
6638	SNRPN	Scrotal hypoplasia	HP:0000046
6638	SNRPN	Specific learning disability	HP:0001328
6638	SNRPN	EEG abnormality	HP:0002353
6638	SNRPN	Iris hypopigmentation	HP:0007730
6638	SNRPN	Esotropia	HP:0000565
6638	SNRPN	Micropenis	HP:0000054
6638	SNRPN	Delayed puberty	HP:0000823
6638	SNRPN	Short palm	HP:0004279
6638	SNRPN	Growth hormone deficiency	HP:0000824
6638	SNRPN	Precocious puberty	HP:0000826
6638	SNRPN	Narrow palm	HP:0004283
6638	SNRPN	Frontal upsweep of hair	HP:0002236
6638	SNRPN	Clitoral hypoplasia	HP:0000060
6638	SNRPN	Narrow nasal bridge	HP:0000446
6638	SNRPN	Hypoplastic labia minora	HP:0000064
6638	SNRPN	Almond-shaped palpebral fissure	HP:0007874
6638	SNRPN	Psychosis	HP:0000709
6638	SNRPN	Upslanted palpebral fissure	HP:0000582
6638	SNRPN	Ventriculomegaly	HP:0002119
6638	SNRPN	Abdominal obesity	HP:0012743
6638	SNRPN	Childhood onset	HP:0011463
6638	SNRPN	Increased serum serotonin	HP:0003144
6638	SNRPN	Hyperinsulinemia	HP:0000842
6638	SNRPN	Nasal speech	HP:0001611
6638	SNRPN	Autism	HP:0000717
6638	SNRPN	Adrenal insufficiency	HP:0000846
6638	SNRPN	Temperature instability	HP:0005968
6638	SNRPN	Lack of spontaneous play	HP:0000721
6638	SNRPN	Restrictive behavior	HP:0000723
6638	SNRPN	Narrow forehead	HP:0000341
6638	SNRPN	Impaired ability to form peer relationships	HP:0000728
6638	SNRPN	Generalized hypopigmentation	HP:0007513
6638	SNRPN	Type II diabetes mellitus	HP:0005978
6638	SNRPN	Scoliosis	HP:0002650
6638	SNRPN	Thin upper lip vermilion	HP:0000219
6638	SNRPN	Inflexible adherence to routines or rituals	HP:0000732
6638	SNRPN	Stereotypy	HP:0000733
6638	SNRPN	Hypopigmentation of hair	HP:0005599
6638	SNRPN	Cutaneous photosensitivity	HP:0000992
6638	SNRPN	Intellectual disability	HP:0001249
6638	SNRPN	Seizures	HP:0001250
6638	SNRPN	Short stature	HP:0004322
6638	SNRPN	Poor fine motor coordination	HP:0007010
6638	SNRPN	Poor gross motor coordination	HP:0007015
6638	SNRPN	Hypoventilation	HP:0002791
6638	SNRPN	Hip dysplasia	HP:0001385
6638	SNRPN	Attention deficit hyperactivity disorder	HP:0007018
6638	SNRPN	Oligomenorrhea	HP:0000876
6638	SNRPN	Short foot	HP:0001773
6638	SNRPN	Delayed speech and language development	HP:0000750
6638	SNRPN	Global developmental delay	HP:0001263
6638	SNRPN	Poor suck	HP:0002033
6638	SNRPN	Small hand	HP:0200055
6638	SNRPN	Motor delay	HP:0001270
6638	SNRPN	Impaired use of nonverbal behaviors	HP:0000758
6638	SNRPN	Kyphosis	HP:0002808
6638	SNRPN	Radial deviation of finger	HP:0009466
6638	SNRPN	Failure to thrive in infancy	HP:0001531
6638	SNRPN	Decreased muscle mass	HP:0003199
63982	ANO3	Abnormality of the larynx	HP:0001600
63982	ANO3	Oromandibular dystonia	HP:0012048
63982	ANO3	Blepharospasm	HP:0000643
63982	ANO3	Limb dystonia	HP:0002451
63982	ANO3	Incomplete penetrance	HP:0003829
63982	ANO3	Autosomal dominant inheritance	HP:0000006
63982	ANO3	Upper limb postural tremor	HP:0007351
63982	ANO3	Myoclonus	HP:0001336
63982	ANO3	Torticollis	HP:0000473
63982	ANO3	Hand tremor	HP:0002378
63982	ANO3	Head tremor	HP:0002346
63982	ANO3	Vocal tremor	HP:0012477
23022	PALLD	Weight loss	HP:0001824
23022	PALLD	Nausea and vomiting	HP:0002017
23022	PALLD	Functional intestinal obstruction	HP:0005249
23022	PALLD	Pancreatic adenocarcinoma	HP:0006725
23022	PALLD	Intestinal pseudo-obstruction	HP:0004389
23022	PALLD	Ovarian carcinoma	HP:0025318
23022	PALLD	Exocrine pancreatic insufficiency	HP:0001738
23022	PALLD	Abdominal pain	HP:0002027
23022	PALLD	Poor appetite	HP:0004396
23022	PALLD	Melanoma	HP:0002861
23022	PALLD	Extrahepatic cholestasis	HP:0012334
23022	PALLD	Intermittent diarrhea	HP:0002254
23022	PALLD	Chronic fatigue	HP:0012432
23022	PALLD	Neoplasm of the liver	HP:0002896
23022	PALLD	Peritoneal abscess	HP:0100592
23022	PALLD	Diabetes mellitus	HP:0000819
23022	PALLD	Anorexia	HP:0002039
23022	PALLD	Jaundice	HP:0000952
23022	PALLD	Hepatosplenomegaly	HP:0001433
23022	PALLD	Breast carcinoma	HP:0003002
23022	PALLD	Back pain	HP:0003418
23022	PALLD	Colon cancer	HP:0003003
23022	PALLD	Lymphadenopathy	HP:0002716
23022	PALLD	Elevated hepatic transaminase	HP:0002910
6640	SNTA1	Torsade de pointes	HP:0001664
6640	SNTA1	Prolonged QTc interval	HP:0005184
6640	SNTA1	Autosomal dominant inheritance	HP:0000006
6640	SNTA1	Ventricular fibrillation	HP:0001663
6640	SNTA1	Syncope	HP:0001279
23025	UNC13A	Nausea and vomiting	HP:0002017
23025	UNC13A	Skeletal muscle atrophy	HP:0003202
23025	UNC13A	Muscle spasm	HP:0003394
23025	UNC13A	Anxiety	HP:0000739
23025	UNC13A	Neurodegeneration	HP:0002180
23025	UNC13A	Emotional lability	HP:0000712
23025	UNC13A	Spasticity	HP:0001257
23025	UNC13A	Agitation	HP:0000713
23025	UNC13A	Depressivity	HP:0000716
23025	UNC13A	Paralysis	HP:0003470
23025	UNC13A	Dyspnea	HP:0002094
23025	UNC13A	Laryngospasm	HP:0025425
23025	UNC13A	Fatigable weakness of swallowing muscles	HP:0030195
23025	UNC13A	Pain	HP:0012531
23025	UNC13A	Fatigable weakness of respiratory muscles	HP:0030196
23025	UNC13A	Xerostomia	HP:0000217
23025	UNC13A	Amyotrophic lateral sclerosis	HP:0007354
23025	UNC13A	Fatigue	HP:0012378
23025	UNC13A	Generalized muscle weakness	HP:0003324
23025	UNC13A	Respiratory failure	HP:0002878
285175	UNC80	Autosomal recessive inheritance	HP:0000007
285175	UNC80	Generalized hypotonia	HP:0001290
285175	UNC80	Cerebral atrophy	HP:0002059
285175	UNC80	Intellectual disability, profound	HP:0002187
285175	UNC80	Profound static encephalopathy	HP:0007069
285175	UNC80	Epicanthus	HP:0000286
285175	UNC80	Bulbous nose	HP:0000414
285175	UNC80	Tapered finger	HP:0001182
285175	UNC80	Hypoplasia of the corpus callosum	HP:0002079
285175	UNC80	Poor speech	HP:0002465
285175	UNC80	Facial hypotonia	HP:0000297
285175	UNC80	Osteopenia	HP:0000938
285175	UNC80	Prominent nasal bridge	HP:0000426
285175	UNC80	Esotropia	HP:0000565
285175	UNC80	Dyskinesia	HP:0100660
285175	UNC80	Smooth philtrum	HP:0000319
285175	UNC80	Absent speech	HP:0001344
285175	UNC80	Feeding difficulties	HP:0011968
285175	UNC80	Prominent nose	HP:0000448
285175	UNC80	Profound global developmental delay	HP:0012736
285175	UNC80	Short philtrum	HP:0000322
285175	UNC80	Open mouth	HP:0000194
285175	UNC80	Triangular face	HP:0000325
285175	UNC80	Hip contracture	HP:0003273
285175	UNC80	Plagiocephaly	HP:0001357
285175	UNC80	Anteverted nares	HP:0000463
285175	UNC80	Broad forehead	HP:0000337
285175	UNC80	Prominent forehead	HP:0011220
285175	UNC80	Short neck	HP:0000470
285175	UNC80	Frontal bossing	HP:0002007
285175	UNC80	Scoliosis	HP:0002650
285175	UNC80	Thin upper lip vermilion	HP:0000219
285175	UNC80	High forehead	HP:0000348
285175	UNC80	Seizures	HP:0001250
285175	UNC80	Constipation	HP:0002019
285175	UNC80	Appendicular hypotonia	HP:0012389
285175	UNC80	Cachexia	HP:0004326
285175	UNC80	Posteriorly rotated ears	HP:0000358
285175	UNC80	Intrauterine growth retardation	HP:0001511
285175	UNC80	Spasticity	HP:0001257
285175	UNC80	Global brain atrophy	HP:0002283
285175	UNC80	Inability to walk	HP:0002540
285175	UNC80	Downslanted palpebral fissures	HP:0000494
285175	UNC80	Low-set ears	HP:0000369
285175	UNC80	Brachycephaly	HP:0000248
285175	UNC80	Failure to thrive in infancy	HP:0001531
285175	UNC80	Ptosis	HP:0000508
285175	UNC80	Microcephaly	HP:0000252
285175	UNC80	Nystagmus	HP:0000639
23028	KDM1A	Feeding difficulties	HP:0011968
23028	KDM1A	Macrocephaly	HP:0000256
23028	KDM1A	Exotropia	HP:0000577
23028	KDM1A	Syringomyelia	HP:0003396
23028	KDM1A	Autosomal dominant inheritance	HP:0000006
23028	KDM1A	Hypoplastic toenails	HP:0001800
23028	KDM1A	Generalized hypotonia	HP:0001290
23028	KDM1A	Abnormal vertebral morphology	HP:0003468
23028	KDM1A	Delayed CNS myelination	HP:0002188
23028	KDM1A	Cerebral white matter hypoplasia	HP:0012430
23028	KDM1A	Anteverted nares	HP:0000463
23028	KDM1A	Blue sclerae	HP:0000592
23028	KDM1A	Oculomotor apraxia	HP:0000657
23028	KDM1A	Prominent forehead	HP:0011220
23028	KDM1A	Frontal bossing	HP:0002007
23028	KDM1A	Synophrys	HP:0000664
23028	KDM1A	Downturned corners of mouth	HP:0002714
23028	KDM1A	Thin upper lip vermilion	HP:0000219
23028	KDM1A	Cryptorchidism	HP:0000028
23028	KDM1A	Tapered finger	HP:0001182
23028	KDM1A	Hypoplasia of the corpus callosum	HP:0002079
23028	KDM1A	Tethered cord	HP:0002144
23028	KDM1A	Short stature	HP:0004322
23028	KDM1A	Constipation	HP:0002019
23028	KDM1A	Joint hypermobility	HP:0001382
23028	KDM1A	Chordee	HP:0000041
23028	KDM1A	Downslanted palpebral fissures	HP:0000494
23028	KDM1A	Delayed speech and language development	HP:0000750
23028	KDM1A	Widely spaced teeth	HP:0000687
23028	KDM1A	Lower limb hypertonia	HP:0006895
23028	KDM1A	Global developmental delay	HP:0001263
23028	KDM1A	Wide nasal bridge	HP:0000431
23028	KDM1A	Clinodactyly of the 5th finger	HP:0004209
23028	KDM1A	Short thumb	HP:0009778
23028	KDM1A	Motor delay	HP:0001270
23028	KDM1A	Brachycephaly	HP:0000248
23028	KDM1A	Highly arched eyebrow	HP:0002553
23028	KDM1A	Ptosis	HP:0000508
23028	KDM1A	Supernumerary nipple	HP:0002558
6647	SOD1	Skeletal muscle atrophy	HP:0003202
6647	SOD1	Muscle spasm	HP:0003394
6647	SOD1	Hyperreflexia	HP:0001347
6647	SOD1	Neurodegeneration	HP:0002180
6647	SOD1	Autosomal dominant inheritance	HP:0000006
6647	SOD1	Autosomal recessive inheritance	HP:0000007
6647	SOD1	Emotional lability	HP:0000712
6647	SOD1	Agitation	HP:0000713
6647	SOD1	Degeneration of the lateral corticospinal tracts	HP:0002314
6647	SOD1	Fasciculations	HP:0002380
6647	SOD1	Depressivity	HP:0000716
6647	SOD1	Paralysis	HP:0003470
6647	SOD1	Heterogeneous	HP:0001425
6647	SOD1	Laryngospasm	HP:0025425
6647	SOD1	Xerostomia	HP:0000217
6647	SOD1	Fatigue	HP:0012378
6647	SOD1	Degeneration of anterior horn cells	HP:0002398
6647	SOD1	Nausea and vomiting	HP:0002017
6647	SOD1	Anxiety	HP:0000739
6647	SOD1	Sleep apnea	HP:0010535
6647	SOD1	Spasticity	HP:0001257
6647	SOD1	Muscle weakness	HP:0001324
6647	SOD1	Dyspnea	HP:0002094
6647	SOD1	Pseudobulbar paralysis	HP:0007024
6647	SOD1	Fatigable weakness of swallowing muscles	HP:0030195
6647	SOD1	Pain	HP:0012531
6647	SOD1	Fatigable weakness of respiratory muscles	HP:0030196
6647	SOD1	Amyotrophic lateral sclerosis	HP:0007354
6647	SOD1	Generalized muscle weakness	HP:0003324
6647	SOD1	Respiratory failure	HP:0002878
55800	SCN3B	Autosomal dominant inheritance	HP:0000006
55800	SCN3B	ST segment elevation	HP:0012251
55800	SCN3B	Atrial flutter	HP:0004749
6651	SON	Soft, doughy skin	HP:0001027
6651	SON	Abnormality of the ribs	HP:0000772
6651	SON	Arnold-Chiari malformation	HP:0002308
6651	SON	Autosomal dominant inheritance	HP:0000006
6651	SON	Hyperextensible hand joints	HP:0005639
6651	SON	Generalized hypotonia	HP:0001290
6651	SON	Progressive visual loss	HP:0000529
6651	SON	Gastroparesis	HP:0002578
6651	SON	Sparse eyebrow	HP:0045075
6651	SON	Gastrointestinal dysmotility	HP:0002579
6651	SON	Transient ischemic attack	HP:0002326
6651	SON	Hypermetropia	HP:0000540
6651	SON	Fetal distress	HP:0025116
6651	SON	Slender long bone	HP:0003100
6651	SON	Epicanthus	HP:0000286
6651	SON	Hypoplasia of the corpus callosum	HP:0002079
6651	SON	Myopia	HP:0000545
6651	SON	Full cheeks	HP:0000293
6651	SON	Bilateral renal dysplasia	HP:0012582
6651	SON	Cerebellar hypoplasia	HP:0001321
6651	SON	Submucous cleft soft palate	HP:0011819
6651	SON	Dilation of lateral ventricles	HP:0006956
6651	SON	Emphysema	HP:0002097
6651	SON	Absent thumb	HP:0009777
6651	SON	Esotropia	HP:0000565
6651	SON	Periventricular leukomalacia	HP:0006970
6651	SON	Auditory hallucinations	HP:0008765
6651	SON	Respiratory failure	HP:0002878
6651	SON	Smooth philtrum	HP:0000319
6651	SON	Exotropia	HP:0000577
6651	SON	Short philtrum	HP:0000322
6651	SON	Metopic synostosis	HP:0011330
6651	SON	Facial asymmetry	HP:0000324
6651	SON	Ventriculomegaly	HP:0002119
6651	SON	Hypoplasia of the maxilla	HP:0000327
6651	SON	Developmental regression	HP:0002376
6651	SON	Absence seizure	HP:0002121
6651	SON	Dysplastic corpus callosum	HP:0006989
6651	SON	Polymicrogyria	HP:0002126
6651	SON	Blue sclerae	HP:0000592
6651	SON	Secretory IgA deficiency	HP:0004433
6651	SON	Craniosynostosis	HP:0001363
6651	SON	Horseshoe kidney	HP:0000085
6651	SON	Narrow forehead	HP:0000341
6651	SON	Scoliosis	HP:0002650
6651	SON	Sagittal craniosynostosis	HP:0004442
6651	SON	Flexion contracture	HP:0001371
6651	SON	Ischemic stroke	HP:0002140
6651	SON	Arachnoid cyst	HP:0100702
6651	SON	Atrial septal defect	HP:0001631
6651	SON	Cerebral visual impairment	HP:0100704
6651	SON	Optic nerve hypoplasia	HP:0000609
6651	SON	Joint hypermobility	HP:0001382
6651	SON	Hearing impairment	HP:0000365
6651	SON	Intellectual disability, severe	HP:0010864
6651	SON	Low-set ears	HP:0000369
6651	SON	Small hand	HP:0200055
6651	SON	Hemivertebrae	HP:0002937
6651	SON	Unilateral renal agenesis	HP:0000122
6651	SON	Lumbar hyperlordosis	HP:0002938
6651	SON	Cervical ribs	HP:0000891
6651	SON	Short nose	HP:0003196
6651	SON	Nystagmus	HP:0000639
6651	SON	Patent ductus arteriosus after birth at term	HP:0011648
6651	SON	Relative macrocephaly	HP:0004482
6651	SON	Rib fusion	HP:0000902
6651	SON	Optic atrophy	HP:0000648
6651	SON	Arachnodactyly	HP:0001166
6651	SON	Simplified gyral pattern	HP:0009879
6651	SON	Downturned corners of mouth	HP:0002714
6651	SON	Protruding ear	HP:0000411
6651	SON	Recurrent infections	HP:0002719
6651	SON	Depressed nasal bridge	HP:0005280
6651	SON	Narrow mouth	HP:0000160
6651	SON	Abnormality of the dentition	HP:0000164
6651	SON	Curly hair	HP:0002212
6651	SON	Wide nasal bridge	HP:0000431
6651	SON	Cleft palate	HP:0000175
6651	SON	Proportionate short stature	HP:0003508
6651	SON	Progressive ventriculomegaly	HP:0007100
6651	SON	Kyphoscoliosis	HP:0002751
6651	SON	Feeding difficulties	HP:0011968
6651	SON	Bifid uvula	HP:0000193
6651	SON	Abnormal common carotid artery morphology	HP:0430021
6651	SON	Absent gallbladder	HP:0011467
6651	SON	Gastrostomy tube feeding in infancy	HP:0011471
6651	SON	Cerebellar hemisphere hypoplasia	HP:0100307
6651	SON	Prominent forehead	HP:0011220
6651	SON	Frontal bossing	HP:0002007
6651	SON	Abnormality of cardiovascular system morphology	HP:0030680
6651	SON	Autistic behavior	HP:0000729
6651	SON	High palate	HP:0000218
6651	SON	Thin upper lip vermilion	HP:0000219
6651	SON	Decreased circulating IgG level	HP:0004315
6651	SON	Dysphagia	HP:0002015
6651	SON	Intellectual disability	HP:0001249
6651	SON	Short stature	HP:0004322
6651	SON	Seizures	HP:0001250
6651	SON	Failure to thrive	HP:0001508
6651	SON	Gastroesophageal reflux	HP:0002020
6651	SON	Strabismus	HP:0000486
6651	SON	Intrauterine growth retardation	HP:0001511
6651	SON	Spasticity	HP:0001257
6651	SON	Thin vermilion border	HP:0000233
6651	SON	Deeply set eye	HP:0000490
6651	SON	Global brain atrophy	HP:0002283
6651	SON	Chronic diarrhea	HP:0002028
6651	SON	Short foot	HP:0001773
6651	SON	Downslanted palpebral fissures	HP:0000494
6651	SON	Global developmental delay	HP:0001263
6651	SON	Unilateral lung agenesis	HP:0030707
6651	SON	Infantile muscular hypotonia	HP:0008947
6651	SON	Hyperextensibility at elbow	HP:0010485
6651	SON	Kyphosis	HP:0002808
6651	SON	Failure to thrive in infancy	HP:0001531
6651	SON	Broad lateral eyebrow	HP:0007933
6653	SORL1	Intellectual disability	HP:0001249
6653	SORL1	Hallucinations	HP:0000738
6653	SORL1	Seizures	HP:0001250
6653	SORL1	Ataxia	HP:0001251
6653	SORL1	Cerebral cortical atrophy	HP:0002120
6653	SORL1	Neurofibrillary tangles	HP:0002185
6653	SORL1	Agitation	HP:0000713
6653	SORL1	Confusion	HP:0001289
6653	SORL1	Semantic dementia	HP:0030219
6653	SORL1	Aphasia	HP:0002381
6653	SORL1	Deposits immunoreactive to beta-amyloid protein	HP:0003791
6653	SORL1	Abnormal social behavior	HP:0012433
6653	SORL1	Oculomotor apraxia	HP:0000657
6653	SORL1	Memory impairment	HP:0002354
6653	SORL1	Parkinsonism	HP:0001300
6653	SORL1	Myoclonus	HP:0001336
6653	SORL1	Abnormality of vision	HP:0000504
6653	SORL1	Hypertonia	HP:0001276
6653	SORL1	Finger agnosia	HP:0010525
6653	SORL1	Dysgraphia	HP:0010526
6653	SORL1	Disinhibition	HP:0000734
6653	SORL1	Language impairment	HP:0002463
121340	SP7	Depressed nasal bridge	HP:0005280
121340	SP7	Narrow mouth	HP:0000160
121340	SP7	Generalized osteoporosis	HP:0040160
121340	SP7	Pectus carinatum	HP:0000768
121340	SP7	Short stature	HP:0004322
121340	SP7	Facial asymmetry	HP:0000324
121340	SP7	Autosomal recessive inheritance	HP:0000007
121340	SP7	Delayed eruption of teeth	HP:0000684
121340	SP7	Malar flattening	HP:0000272
121340	SP7	Prominent supraorbital ridges	HP:0000336
121340	SP7	Prominent forehead	HP:0011220
121340	SP7	Wormian bones	HP:0002645
121340	SP7	Motor delay	HP:0001270
121340	SP7	Midface retrusion	HP:0011800
121340	SP7	Abnormality of cardiovascular system morphology	HP:0030680
121340	SP7	Scoliosis	HP:0002650
121340	SP7	High palate	HP:0000218
121340	SP7	Micrognathia	HP:0000347
6654	SOS1	Pectus carinatum	HP:0000768
6654	SOS1	Macrocephaly	HP:0000256
6654	SOS1	Brachydactyly	HP:0001156
6654	SOS1	Autosomal dominant inheritance	HP:0000006
6654	SOS1	Thickened helices	HP:0000391
6654	SOS1	Proptosis	HP:0000520
6654	SOS1	Abnormality of coagulation	HP:0001928
6654	SOS1	Enlarged thorax	HP:0100625
6654	SOS1	Pectus excavatum of inferior sternum	HP:0000915
6654	SOS1	Sensorineural hearing impairment	HP:0000407
6654	SOS1	Cubitus valgus	HP:0002967
6654	SOS1	Sparse and thin eyebrow	HP:0000535
6654	SOS1	Midface retrusion	HP:0011800
6654	SOS1	Keratosis pilaris	HP:0032152
6654	SOS1	Arrhythmia	HP:0011675
6654	SOS1	Cryptorchidism	HP:0000028
6654	SOS1	Radioulnar synostosis	HP:0002974
6654	SOS1	Epicanthus	HP:0000286
6654	SOS1	Coarse hair	HP:0002208
6654	SOS1	Depressed nasal bridge	HP:0005280
6654	SOS1	High anterior hairline	HP:0009890
6654	SOS1	Curly hair	HP:0002212
6654	SOS1	Feeding difficulties in infancy	HP:0008872
6654	SOS1	Gingival fibromatosis	HP:0000169
6654	SOS1	Hypogonadotrophic hypogonadism	HP:0000044
6654	SOS1	Muscle weakness	HP:0001324
6654	SOS1	Dental malocclusion	HP:0000689
6654	SOS1	Thick lower lip vermilion	HP:0000179
6654	SOS1	Abnormal dermatoglyphics	HP:0007477
6654	SOS1	Hypertelorism	HP:0000316
6654	SOS1	Joint hyperflexibility	HP:0005692
6654	SOS1	Delayed skeletal maturation	HP:0002750
6654	SOS1	Pulmonary artery stenosis	HP:0004415
6654	SOS1	Hepatomegaly	HP:0002240
6654	SOS1	Prolonged bleeding time	HP:0003010
6654	SOS1	Triangular face	HP:0000325
6654	SOS1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
6654	SOS1	Abnormality of the spleen	HP:0001743
6654	SOS1	Webbed neck	HP:0000465
6654	SOS1	Wide intermamillary distance	HP:0006610
6654	SOS1	Gingival overgrowth	HP:0000212
6654	SOS1	Short neck	HP:0000470
6654	SOS1	Scoliosis	HP:0002650
6654	SOS1	Thickened nuchal skin fold	HP:0000474
6654	SOS1	High palate	HP:0000218
6654	SOS1	Micrognathia	HP:0000347
6654	SOS1	Cystic hygroma	HP:0000476
6654	SOS1	High forehead	HP:0000348
6654	SOS1	Abnormal platelet function	HP:0011869
6654	SOS1	Ventricular septal defect	HP:0001629
6654	SOS1	Short stature	HP:0004322
6654	SOS1	Abnormal hair quantity	HP:0011362
6654	SOS1	Melanocytic nevus	HP:0000995
6654	SOS1	Abnormal bleeding	HP:0001892
6654	SOS1	Muscular hypotonia	HP:0001252
6654	SOS1	Strabismus	HP:0000486
6654	SOS1	Hypertrophic cardiomyopathy	HP:0001639
6654	SOS1	Abnormal pulmonary valve morphology	HP:0001641
6654	SOS1	Pulmonic stenosis	HP:0001642
6654	SOS1	Dysarthria	HP:0001260
6654	SOS1	Lymphedema	HP:0001004
6654	SOS1	Downslanted palpebral fissures	HP:0000494
6654	SOS1	Low-set, posteriorly rotated ears	HP:0000368
6654	SOS1	Clinodactyly of the 5th finger	HP:0004209
6654	SOS1	Low posterior hairline	HP:0002162
6654	SOS1	Aplasia of the semicircular canal	HP:0011381
6654	SOS1	Blue irides	HP:0000635
6654	SOS1	Ptosis	HP:0000508
6654	SOS1	Pectus excavatum	HP:0000767
6654	SOS1	Nystagmus	HP:0000639
55806	HR	Coarse hair	HP:0002208
55806	HR	Sparse scalp hair	HP:0002209
55806	HR	Pili torti	HP:0003777
55806	HR	Sparse or absent eyelashes	HP:0200102
55806	HR	Autosomal dominant inheritance	HP:0000006
55806	HR	Autosomal recessive inheritance	HP:0000007
55806	HR	Aplasia/Hypoplasia of the eyebrow	HP:0100840
55806	HR	Sparse eyelashes	HP:0000653
55806	HR	Hypotrichosis	HP:0001006
55806	HR	Absent eyebrow	HP:0002223
55806	HR	Absent eyelashes	HP:0000561
55806	HR	Alopecia universalis	HP:0002289
55806	HR	Abnormality of metabolism/homeostasis	HP:0001939
55806	HR	Alopecia areata	HP:0002229
55806	HR	Sparse and thin eyebrow	HP:0000535
55806	HR	Sparse body hair	HP:0002231
55806	HR	Generalized papillary lesions	HP:0007482
55806	HR	Alopecia	HP:0001596
6655	SOS2	Pectus carinatum	HP:0000768
6655	SOS2	Brachydactyly	HP:0001156
6655	SOS2	Autosomal dominant inheritance	HP:0000006
6655	SOS2	Abnormal cardiac septum morphology	HP:0001671
6655	SOS2	Thickened helices	HP:0000391
6655	SOS2	Proptosis	HP:0000520
6655	SOS2	Abnormality of coagulation	HP:0001928
6655	SOS2	Coarctation of aorta	HP:0001680
6655	SOS2	Enlarged thorax	HP:0100625
6655	SOS2	Sparse and thin eyebrow	HP:0000535
6655	SOS2	Sensorineural hearing impairment	HP:0000407
6655	SOS2	Midface retrusion	HP:0011800
6655	SOS2	Arrhythmia	HP:0011675
6655	SOS2	Cryptorchidism	HP:0000028
6655	SOS2	Radioulnar synostosis	HP:0002974
6655	SOS2	Coarse hair	HP:0002208
6655	SOS2	Curly hair	HP:0002212
6655	SOS2	Feeding difficulties in infancy	HP:0008872
6655	SOS2	Hypogonadotrophic hypogonadism	HP:0000044
6655	SOS2	Muscle weakness	HP:0001324
6655	SOS2	Thick lower lip vermilion	HP:0000179
6655	SOS2	Abnormal dermatoglyphics	HP:0007477
6655	SOS2	Hypertelorism	HP:0000316
6655	SOS2	Joint hyperflexibility	HP:0005692
6655	SOS2	Delayed skeletal maturation	HP:0002750
6655	SOS2	Pulmonary artery stenosis	HP:0004415
6655	SOS2	Hepatomegaly	HP:0002240
6655	SOS2	Triangular face	HP:0000325
6655	SOS2	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
6655	SOS2	Abnormality of the spleen	HP:0001743
6655	SOS2	Webbed neck	HP:0000465
6655	SOS2	Wide intermamillary distance	HP:0006610
6655	SOS2	Short neck	HP:0000470
6655	SOS2	Scoliosis	HP:0002650
6655	SOS2	Thickened nuchal skin fold	HP:0000474
6655	SOS2	High palate	HP:0000218
6655	SOS2	Micrognathia	HP:0000347
6655	SOS2	Cystic hygroma	HP:0000476
6655	SOS2	High forehead	HP:0000348
6655	SOS2	Abnormal platelet function	HP:0011869
6655	SOS2	Short stature	HP:0004322
6655	SOS2	Abnormal hair quantity	HP:0011362
6655	SOS2	Melanocytic nevus	HP:0000995
6655	SOS2	Abnormal bleeding	HP:0001892
6655	SOS2	Muscular hypotonia	HP:0001252
6655	SOS2	Strabismus	HP:0000486
6655	SOS2	Abnormal pulmonary valve morphology	HP:0001641
6655	SOS2	Pulmonic stenosis	HP:0001642
6655	SOS2	Dysarthria	HP:0001260
6655	SOS2	Lymphedema	HP:0001004
6655	SOS2	Downslanted palpebral fissures	HP:0000494
6655	SOS2	Global developmental delay	HP:0001263
6655	SOS2	Low-set, posteriorly rotated ears	HP:0000368
6655	SOS2	Clinodactyly of the 5th finger	HP:0004209
6655	SOS2	Low posterior hairline	HP:0002162
6655	SOS2	Hyperkeratosis pilaris	HP:0040180
6655	SOS2	Aplasia of the semicircular canal	HP:0011381
6655	SOS2	Ptosis	HP:0000508
6655	SOS2	Pectus excavatum	HP:0000767
6655	SOS2	Nystagmus	HP:0000639
23040	MYT1L	Intellectual disability	HP:0001249
23040	MYT1L	Autosomal dominant inheritance	HP:0000006
23040	MYT1L	Obesity	HP:0001513
23040	MYT1L	Aggressive behavior	HP:0000718
23040	MYT1L	Delayed speech and language development	HP:0000750
23040	MYT1L	Global developmental delay	HP:0001263
6657	SOX2	Anterior pituitary hypoplasia	HP:0010627
6657	SOX2	Vertebral fusion	HP:0002948
6657	SOX2	Autosomal dominant inheritance	HP:0000006
6657	SOX2	Rib fusion	HP:0000902
6657	SOX2	Sclerocornea	HP:0000647
6657	SOX2	Generalized hypotonia	HP:0001290
6657	SOX2	Hypothalamic hamartoma	HP:0002444
6657	SOX2	Tracheoesophageal fistula	HP:0002575
6657	SOX2	Anophthalmia	HP:0000528
6657	SOX2	Hemiplegia/hemiparesis	HP:0004374
6657	SOX2	Sensorineural hearing impairment	HP:0000407
6657	SOX2	Missing ribs	HP:0000921
6657	SOX2	Cryptorchidism	HP:0000028
6657	SOX2	Hypoplasia of the corpus callosum	HP:0002079
6657	SOX2	Hypoplasia of penis	HP:0008736
6657	SOX2	Polydipsia	HP:0001959
6657	SOX2	Hypogonadotrophic hypogonadism	HP:0000044
6657	SOX2	Cleft palate	HP:0000175
6657	SOX2	Hypospadias	HP:0000047
6657	SOX2	Specific learning disability	HP:0001328
6657	SOX2	Micropenis	HP:0000054
6657	SOX2	Supernumerary ribs	HP:0005815
6657	SOX2	Sleep disturbance	HP:0002360
6657	SOX2	Microphthalmia	HP:0000568
6657	SOX2	Visual loss	HP:0000572
6657	SOX2	Dry skin	HP:0000958
6657	SOX2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6657	SOX2	Postnatal growth retardation	HP:0008897
6657	SOX2	Hypohidrosis	HP:0000966
6657	SOX2	Maternal diabetes	HP:0009800
6657	SOX2	Anosmia	HP:0000458
6657	SOX2	Autism	HP:0000717
6657	SOX2	Coloboma	HP:0000589
6657	SOX2	Spastic tetraplegia	HP:0002510
6657	SOX2	Holoprosencephaly	HP:0001360
6657	SOX2	Frontal bossing	HP:0002007
6657	SOX2	Abnormality of cardiovascular system morphology	HP:0030680
6657	SOX2	Fatigue	HP:0012378
6657	SOX2	Ventricular septal defect	HP:0001629
6657	SOX2	Intellectual disability	HP:0001249
6657	SOX2	Optic nerve hypoplasia	HP:0000609
6657	SOX2	Vertebral hypoplasia	HP:0008417
6657	SOX2	Seizures	HP:0001250
6657	SOX2	Short stature	HP:0004322
6657	SOX2	Constipation	HP:0002019
6657	SOX2	Muscular hypotonia	HP:0001252
6657	SOX2	Iris coloboma	HP:0000612
6657	SOX2	Strabismus	HP:0000486
6657	SOX2	Growth delay	HP:0001510
6657	SOX2	Obesity	HP:0001513
6657	SOX2	Diabetes insipidus	HP:0000873
6657	SOX2	Septo-optic dysplasia	HP:0100842
6657	SOX2	Patent ductus arteriosus	HP:0001643
6657	SOX2	Hearing impairment	HP:0000365
6657	SOX2	11 pairs of ribs	HP:0000878
6657	SOX2	Hydrocephalus	HP:0000238
6657	SOX2	Global developmental delay	HP:0001263
6657	SOX2	Esophageal atresia	HP:0002032
6657	SOX2	Spastic diplegia	HP:0001264
6657	SOX2	Butterfly vertebrae	HP:0003316
6657	SOX2	Visual impairment	HP:0000505
6657	SOX2	Hemivertebrae	HP:0002937
6657	SOX2	Agenesis of corpus callosum	HP:0001274
6657	SOX2	Microcephaly	HP:0000252
6657	SOX2	Nystagmus	HP:0000639
6658	SOX3	Anterior pituitary hypoplasia	HP:0010627
6658	SOX3	X-linked inheritance	HP:0001417
6658	SOX3	Amenorrhea	HP:0000141
6658	SOX3	Tracheoesophageal fistula	HP:0002575
6658	SOX3	Polycystic ovaries	HP:0000147
6658	SOX3	Infertility	HP:0000789
6658	SOX3	Hemiplegia/hemiparesis	HP:0004374
6658	SOX3	Abnormal prolactin level	HP:0040086
6658	SOX3	Sensorineural hearing impairment	HP:0000407
6658	SOX3	Hypoglycemia	HP:0001943
6658	SOX3	Male hypogonadism	HP:0000026
6658	SOX3	Cryptorchidism	HP:0000028
6658	SOX3	Decreased testicular size	HP:0008734
6658	SOX3	Hypoplasia of penis	HP:0008736
6658	SOX3	Abnormality of secondary sexual hair	HP:0009888
6658	SOX3	Polydipsia	HP:0001959
6658	SOX3	Osteopenia	HP:0000938
6658	SOX3	Hypogonadotrophic hypogonadism	HP:0000044
6658	SOX3	Cleft palate	HP:0000175
6658	SOX3	Hypothyroidism	HP:0000821
6658	SOX3	Pituitary hypothyroidism	HP:0008245
6658	SOX3	Delayed puberty	HP:0000823
6658	SOX3	Hypotension	HP:0002615
6658	SOX3	Growth hormone deficiency	HP:0000824
6658	SOX3	Sleep disturbance	HP:0002360
6658	SOX3	Ectopic anterior pituitary gland	HP:0012731
6658	SOX3	Ambiguous genitalia	HP:0000062
6658	SOX3	Dry skin	HP:0000958
6658	SOX3	Delayed skeletal maturation	HP:0002750
6658	SOX3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6658	SOX3	Hypohidrosis	HP:0000966
6658	SOX3	Pituitary dwarfism	HP:0000839
6658	SOX3	Aplasia/Hypoplasia of the breasts	HP:0010311
6658	SOX3	Maternal diabetes	HP:0009800
6658	SOX3	Depressed nasal ridge	HP:0000457
6658	SOX3	Anosmia	HP:0000458
6658	SOX3	Autism	HP:0000717
6658	SOX3	Abnormality of cardiovascular system morphology	HP:0030680
6658	SOX3	Fatigue	HP:0012378
6658	SOX3	Intellectual disability	HP:0001249
6658	SOX3	Short stature	HP:0004322
6658	SOX3	Seizures	HP:0001250
6658	SOX3	Constipation	HP:0002019
6658	SOX3	Strabismus	HP:0000486
6658	SOX3	Panhypopituitarism	HP:0000871
6658	SOX3	Intellectual disability, mild	HP:0001256
6658	SOX3	Decreased circulating ACTH level	HP:0002920
6658	SOX3	Obesity	HP:0001513
6658	SOX3	Diabetes insipidus	HP:0000873
6658	SOX3	Septo-optic dysplasia	HP:0100842
6658	SOX3	Ectopic posterior pituitary	HP:0011755
6658	SOX3	Global developmental delay	HP:0001263
6658	SOX3	Esophageal atresia	HP:0002032
6658	SOX3	Visual impairment	HP:0000505
6658	SOX3	Osteoporosis of vertebrae	HP:0005625
6658	SOX3	Agenesis of corpus callosum	HP:0001274
6658	SOX3	Absence of secondary sex characteristics	HP:0008187
6658	SOX3	Nystagmus	HP:0000639
23043	TNIK	Hyperactivity	HP:0000752
23043	TNIK	Intellectual disability	HP:0001249
23043	TNIK	Autosomal recessive inheritance	HP:0000007
23043	TNIK	Delayed speech and language development	HP:0000750
55811	ADCY10	Calcium oxalate nephrolithiasis	HP:0008672
55811	ADCY10	Hypercalciuria	HP:0002150
55811	ADCY10	Osteopenia	HP:0000938
55811	ADCY10	Osteoporosis	HP:0000939
55811	ADCY10	Renal calcium wasting	HP:0012637
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	Thoracic kyphoscoliosis	HP:0005659
6660	SOX5	Abnormality of brain morphology	HP:0012443
6660	SOX5	Epicanthus	HP:0000286
6660	SOX5	Bulbous nose	HP:0000414
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	Aggressive behavior	HP:0000718
6660	SOX5	Abnormality of the genital system	HP:0000078
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	Pes planus	HP:0001763
6660	SOX5	Anxiety	HP:0000739
6660	SOX5	Muscular hypotonia	HP:0001252
6660	SOX5	Gastroesophageal reflux	HP:0002020
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
55812	SPATA7	Abnormal electroretinogram	HP:0000512
55812	SPATA7	Hyperreflexia	HP:0001347
55812	SPATA7	Cataract	HP:0000518
55812	SPATA7	Hypogonadism	HP:0000135
55812	SPATA7	Autosomal recessive inheritance	HP:0000007
55812	SPATA7	Optic atrophy	HP:0000648
55812	SPATA7	Hyperinsulinemia	HP:0000842
55812	SPATA7	Anteverted nares	HP:0000463
55812	SPATA7	Conductive hearing impairment	HP:0000405
55812	SPATA7	Nyctalopia	HP:0000662
55812	SPATA7	Hemiplegia/hemiparesis	HP:0004374
55812	SPATA7	Sensorineural hearing impairment	HP:0000407
55812	SPATA7	Abnormality of retinal pigmentation	HP:0007703
55812	SPATA7	Ophthalmoplegia	HP:0000602
55812	SPATA7	Type II diabetes mellitus	HP:0005978
55812	SPATA7	Atypical scarring of skin	HP:0000987
55812	SPATA7	Abnormality of neuronal migration	HP:0002269
55812	SPATA7	Hypoplasia of penis	HP:0008736
55812	SPATA7	Intellectual disability	HP:0001249
55812	SPATA7	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
55812	SPATA7	Seizures	HP:0001250
55812	SPATA7	Abnormal testis morphology	HP:0000035
55812	SPATA7	Encephalocele	HP:0002084
55812	SPATA7	Muscular hypotonia	HP:0001252
55812	SPATA7	Photophobia	HP:0000613
55812	SPATA7	Obesity	HP:0001513
55812	SPATA7	Blindness	HP:0000618
55812	SPATA7	Constriction of peripheral visual field	HP:0001133
55812	SPATA7	Hearing impairment	HP:0000365
55812	SPATA7	Abnormal retinal vascular morphology	HP:0008046
55812	SPATA7	Wide nasal bridge	HP:0000431
55812	SPATA7	Global developmental delay	HP:0001263
55812	SPATA7	Keratoconus	HP:0000563
55812	SPATA7	Glaucoma	HP:0000501
55812	SPATA7	Severely reduced visual acuity	HP:0001141
55812	SPATA7	Progressive night blindness	HP:0007675
55812	SPATA7	Abnormality of the optic disc	HP:0012795
55812	SPATA7	Visual loss	HP:0000572
55812	SPATA7	Nystagmus	HP:0000639
6662	SOX9	Macrocephaly	HP:0000256
6662	SOX9	Primary gonadal insufficiency	HP:0008193
6662	SOX9	Gynecomastia	HP:0000771
6662	SOX9	Wide anterior fontanel	HP:0000260
6662	SOX9	Autosomal dominant inheritance	HP:0000006
6662	SOX9	Narrow chest	HP:0000774
6662	SOX9	Proptosis	HP:0000520
6662	SOX9	Generalized hypotonia	HP:0001290
6662	SOX9	Testicular dysgenesis	HP:0008715
6662	SOX9	Hip dislocation	HP:0002827
6662	SOX9	Small face	HP:0000274
6662	SOX9	Primary amenorrhea	HP:0000786
6662	SOX9	Abnormality of male internal genitalia	HP:0000022
6662	SOX9	Hypoplasia of the vagina	HP:0008726
6662	SOX9	Decreased serum estradiol	HP:0008214
6662	SOX9	Polyhydramnios	HP:0001561
6662	SOX9	Male hypogonadism	HP:0000026
6662	SOX9	Female external genitalia in individual with 46,XY karyotype	HP:0008730
6662	SOX9	Azoospermia	HP:0000027
6662	SOX9	Cryptorchidism	HP:0000028
6662	SOX9	Poorly ossified cervical vertebrae	HP:0008477
6662	SOX9	Skin dimples	HP:0010781
6662	SOX9	Decreased testicular size	HP:0008734
6662	SOX9	Testicular gonadoblastoma	HP:0000030
6662	SOX9	Hypoplasia of penis	HP:0008736
6662	SOX9	Male pseudohermaphroditism	HP:0000037
6662	SOX9	Elevated circulating follicle stimulating hormone level	HP:0008232
6662	SOX9	Hypogonadotrophic hypogonadism	HP:0000044
6662	SOX9	Respiratory insufficiency	HP:0002093
6662	SOX9	Abnormality of the scrotum	HP:0000045
6662	SOX9	Scrotal hypoplasia	HP:0000046
6662	SOX9	Hypospadias	HP:0000047
6662	SOX9	Hypergonadotropic hypogonadism	HP:0000815
6662	SOX9	Bifid scrotum	HP:0000048
6662	SOX9	Hypoplastic iliac wing	HP:0002866
6662	SOX9	Respiratory distress	HP:0002098
6662	SOX9	Micropenis	HP:0000054
6662	SOX9	Delayed puberty	HP:0000823
6662	SOX9	Apnea	HP:0002104
6662	SOX9	Abnormal scrotal rugation	HP:0012856
6662	SOX9	Abnormality of the sense of smell	HP:0004408
6662	SOX9	Abnormality of the labia	HP:0000058
6662	SOX9	Hypertelorism	HP:0000316
6662	SOX9	Ambiguous genitalia	HP:0000062
6662	SOX9	Laryngomalacia	HP:0001601
6662	SOX9	Blepharophimosis	HP:0000581
6662	SOX9	Vanishing testis	HP:0012870
6662	SOX9	Ventriculomegaly	HP:0002119
6662	SOX9	Adrenal insufficiency	HP:0000846
6662	SOX9	Flat face	HP:0012368
6662	SOX9	Neonatal respiratory distress	HP:0002643
6662	SOX9	Abnormality of the pharynx	HP:0000600
6662	SOX9	Scoliosis	HP:0002650
6662	SOX9	Micrognathia	HP:0000347
6662	SOX9	Abnormal heart morphology	HP:0001627
6662	SOX9	High forehead	HP:0000348
6662	SOX9	Decreased fertility in females	HP:0000868
6662	SOX9	Nephrotic syndrome	HP:0000100
6662	SOX9	Nephroblastoma	HP:0002667
6662	SOX9	Hearing impairment	HP:0000365
6662	SOX9	11 pairs of ribs	HP:0000878
6662	SOX9	Low-set ears	HP:0000369
6662	SOX9	Hypoplastic scapulae	HP:0000882
6662	SOX9	Thin ribs	HP:0000883
6662	SOX9	Hypoplastic inferior ilia	HP:0008821
6662	SOX9	Hypoplasia of olfactory tract	HP:0007036
6662	SOX9	Hydronephrosis	HP:0000126
6662	SOX9	Abnormality of the uterus	HP:0000130
6662	SOX9	Gonadal dysgenesis	HP:0000133
6662	SOX9	Shortening of all phalanges of fingers	HP:0011910
6662	SOX9	Thoracic hypoplasia	HP:0005257
6662	SOX9	Decreased fertility	HP:0000144
6662	SOX9	Polycystic ovaries	HP:0000147
6662	SOX9	Ovarian gonadoblastoma	HP:0000149
6662	SOX9	Depressed nasal bridge	HP:0005280
6662	SOX9	Glossoptosis	HP:0000162
6662	SOX9	Femoral bowing	HP:0002980
6662	SOX9	Tibial bowing	HP:0002982
6662	SOX9	Sparse axillary hair	HP:0002215
6662	SOX9	Disproportionate short-limb short stature	HP:0008873
6662	SOX9	Urogenital sinus anomaly	HP:0100779
6662	SOX9	Shortening of all phalanges of the toes	HP:0005035
6662	SOX9	Osteoporosis	HP:0000939
6662	SOX9	Cleft palate	HP:0000175
6662	SOX9	Sparse pubic hair	HP:0002225
6662	SOX9	Male infertility	HP:0003251
6662	SOX9	Small abnormally formed scapulae	HP:0006584
6662	SOX9	Delayed skeletal maturation	HP:0002750
6662	SOX9	Kyphoscoliosis	HP:0002751
6662	SOX9	Elevated circulating luteinizing hormone level	HP:0011969
6662	SOX9	Recurrent fractures	HP:0002757
6662	SOX9	Depressed nasal ridge	HP:0000457
6662	SOX9	Short palpebral fissure	HP:0012745
6662	SOX9	Abnormal sex determination	HP:0012244
6662	SOX9	Sex reversal	HP:0012245
6662	SOX9	Short neck	HP:0000470
6662	SOX9	Abnormality of cardiovascular system morphology	HP:0030680
6662	SOX9	Neonatal short-limb short stature	HP:0008921
6662	SOX9	Clitoral hypertrophy	HP:0008665
6662	SOX9	True hermaphroditism	HP:0010459
6662	SOX9	Upper airway obstruction	HP:0002781
6662	SOX9	Fibular hypoplasia	HP:0003038
6662	SOX9	Streak ovary	HP:0010464
6662	SOX9	Tracheobronchomalacia	HP:0002786
6662	SOX9	Talipes equinovarus	HP:0001762
6662	SOX9	Short stature	HP:0004322
6662	SOX9	Absent sternal ossification	HP:0006628
6662	SOX9	Failure to thrive	HP:0001508
6662	SOX9	Muscular hypotonia	HP:0001252
6662	SOX9	Decreased serum testosterone level	HP:0040171
6662	SOX9	Hydrocephalus	HP:0000238
6662	SOX9	Hypoplastic cervical vertebrae	HP:0008434
6662	SOX9	Anterior tibial bowing	HP:0006390
6662	SOX9	Kyphosis	HP:0002808
6662	SOX9	Absence of secondary sex characteristics	HP:0008187
55814	BDP1	Progressive hearing impairment	HP:0001730
375298	CERKL	Abnormal electroretinogram	HP:0000512
375298	CERKL	Hyperreflexia	HP:0001347
375298	CERKL	Cataract	HP:0000518
375298	CERKL	Autosomal recessive inheritance	HP:0000007
375298	CERKL	Hypogonadism	HP:0000135
375298	CERKL	Undetectable light- and dark-adapted electroretinogram	HP:0007688
375298	CERKL	Optic atrophy	HP:0000648
375298	CERKL	Hyperinsulinemia	HP:0000842
375298	CERKL	Anteverted nares	HP:0000463
375298	CERKL	Conductive hearing impairment	HP:0000405
375298	CERKL	Sensorineural hearing impairment	HP:0000407
375298	CERKL	Abnormality of retinal pigmentation	HP:0007703
375298	CERKL	Ophthalmoplegia	HP:0000602
375298	CERKL	Type II diabetes mellitus	HP:0005978
375298	CERKL	Atypical scarring of skin	HP:0000987
375298	CERKL	Optic disc pallor	HP:0000543
375298	CERKL	Hypoplasia of penis	HP:0008736
375298	CERKL	Intellectual disability	HP:0001249
375298	CERKL	Attenuation of retinal blood vessels	HP:0007843
375298	CERKL	Abnormal testis morphology	HP:0000035
375298	CERKL	Photophobia	HP:0000613
375298	CERKL	Obesity	HP:0001513
375298	CERKL	Blindness	HP:0000618
375298	CERKL	Constriction of peripheral visual field	HP:0001133
375298	CERKL	Abnormal retinal vascular morphology	HP:0008046
375298	CERKL	Wide nasal bridge	HP:0000431
375298	CERKL	Keratoconus	HP:0000563
375298	CERKL	Glaucoma	HP:0000501
375298	CERKL	Progressive night blindness	HP:0007675
375298	CERKL	Rod-cone dystrophy	HP:0000510
375298	CERKL	Nystagmus	HP:0000639
6663	SOX10	Gynecomastia	HP:0000771
6663	SOX10	Areflexia	HP:0001284
6663	SOX10	Autosomal dominant inheritance	HP:0000006
6663	SOX10	Gait disturbance	HP:0001288
6663	SOX10	Spastic paraparesis	HP:0002313
6663	SOX10	Alacrima	HP:0000522
6663	SOX10	Peripheral hypomyelination	HP:0007182
6663	SOX10	Primary amenorrhea	HP:0000786
6663	SOX10	Long-segment aganglionic megacolon	HP:0011285
6663	SOX10	Abnormal eyebrow morphology	HP:0000534
6663	SOX10	Abnormality of retinal pigmentation	HP:0007703
6663	SOX10	Cryptorchidism	HP:0000028
6663	SOX10	Hypopigmented skin patches	HP:0001053
6663	SOX10	Decreased testicular size	HP:0008734
6663	SOX10	Erectile abnormalities	HP:0100639
6663	SOX10	Ileus	HP:0002595
6663	SOX10	Microcolon	HP:0004388
6663	SOX10	Color vision defect	HP:0000551
6663	SOX10	Neonatal hypotonia	HP:0001319
6663	SOX10	Hypogonadotrophic hypogonadism	HP:0000044
6663	SOX10	Muscle weakness	HP:0001324
6663	SOX10	Abnormal autonomic nervous system physiology	HP:0012332
6663	SOX10	Lacrimal gland hypoplasia	HP:0007732
6663	SOX10	Micropenis	HP:0000054
6663	SOX10	Paraplegia	HP:0010550
6663	SOX10	Delayed puberty	HP:0000823
6663	SOX10	Bimanual synkinesia	HP:0001335
6663	SOX10	Tremor	HP:0001337
6663	SOX10	Hyposmia	HP:0004409
6663	SOX10	Dilatation	HP:0002617
6663	SOX10	Olfactory lobe agenesis	HP:0001341
6663	SOX10	Anterior hypopituitarism	HP:0000830
6663	SOX10	Abnormality of the pulmonary artery	HP:0004414
6663	SOX10	Dyspareunia	HP:0030016
6663	SOX10	Dysmyelinating leukodystrophy	HP:0006978
6663	SOX10	Abnormality of the voice	HP:0001608
6663	SOX10	Reduced number of teeth	HP:0009804
6663	SOX10	Heterochromia iridis	HP:0001100
6663	SOX10	Abnormality of the kidney	HP:0000077
6663	SOX10	Abnormal macular morphology	HP:0001103
6663	SOX10	Ocular albinism	HP:0001107
6663	SOX10	Peripheral demyelination	HP:0011096
6663	SOX10	Abnormal pyramidal sign	HP:0007256
6663	SOX10	Skeletal dysplasia	HP:0002652
6663	SOX10	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
6663	SOX10	Intestinal obstruction	HP:0005214
6663	SOX10	Cerebral dysmyelination	HP:0007266
6663	SOX10	Peripheral neuropathy	HP:0009830
6663	SOX10	Renal agenesis	HP:0000104
6663	SOX10	Distal amyotrophy	HP:0003693
6663	SOX10	Hearing impairment	HP:0000365
6663	SOX10	Absent brainstem auditory responses	HP:0004463
6663	SOX10	Breast hypoplasia	HP:0003187
6663	SOX10	Dilated vestibule of the inner ear	HP:0011379
6663	SOX10	Aplasia of the semicircular canal	HP:0011381
6663	SOX10	Hypoplasia of the semicircular canal	HP:0011382
6663	SOX10	Distal sensory impairment	HP:0002936
6663	SOX10	Decreased lacrimation	HP:0000633
6663	SOX10	Blue irides	HP:0000635
6663	SOX10	Nystagmus	HP:0000639
6663	SOX10	Ichthyosis	HP:0008064
6663	SOX10	Hypogonadism	HP:0000135
6663	SOX10	Decreased fertility	HP:0000144
6663	SOX10	Heterogeneous	HP:0001425
6663	SOX10	Sensorineural hearing impairment	HP:0000407
6663	SOX10	Cerebral hypomyelination	HP:0006808
6663	SOX10	Synophrys	HP:0000664
6663	SOX10	Arrhythmia	HP:0011675
6663	SOX10	Distal muscle weakness	HP:0002460
6663	SOX10	White forelock	HP:0002211
6663	SOX10	Premature graying of hair	HP:0002216
6663	SOX10	Prominent nasal bridge	HP:0000426
6663	SOX10	Underdeveloped nasal alae	HP:0000430
6663	SOX10	Cleft palate	HP:0000175
6663	SOX10	Wide nasal bridge	HP:0000431
6663	SOX10	White eyebrow	HP:0002226
6663	SOX10	White eyelashes	HP:0002227
6663	SOX10	Cafe-au-lait spot	HP:0000957
6663	SOX10	Delayed skeletal maturation	HP:0002750
6663	SOX10	Hepatomegaly	HP:0002240
6663	SOX10	Demyelinating peripheral neuropathy	HP:0007108
6663	SOX10	Recurrent fractures	HP:0002757
6663	SOX10	Hypohidrosis	HP:0000966
6663	SOX10	Anosmia	HP:0000458
6663	SOX10	Aganglionic megacolon	HP:0002251
6663	SOX10	Spastic tetraplegia	HP:0002510
6663	SOX10	Splenomegaly	HP:0001744
6663	SOX10	Hypopigmentation of the fundus	HP:0007894
6663	SOX10	Abnormality of cardiovascular system morphology	HP:0030680
6663	SOX10	Hypopigmentation of hair	HP:0005599
6663	SOX10	Pes cavus	HP:0001761
6663	SOX10	Intellectual disability	HP:0001249
6663	SOX10	Seizures	HP:0001250
6663	SOX10	Ataxia	HP:0001251
6663	SOX10	Pes planus	HP:0001763
6663	SOX10	Constipation	HP:0002019
6663	SOX10	Muscular hypotonia	HP:0001252
6663	SOX10	Muscular hypotonia of the trunk	HP:0008936
6663	SOX10	Obesity	HP:0001513
6663	SOX10	Spasticity	HP:0001257
6663	SOX10	Abdominal pain	HP:0002027
6663	SOX10	Dysarthria	HP:0001260
6663	SOX10	Global developmental delay	HP:0001263
6663	SOX10	Myelin outfoldings	HP:0004336
6663	SOX10	Hyporeflexia	HP:0001265
6663	SOX10	Arthrogryposis multiplex congenita	HP:0002804
6663	SOX10	Abnormality of vision	HP:0000504
6663	SOX10	Visual impairment	HP:0000505
6663	SOX10	Decreased nerve conduction velocity	HP:0000762
6663	SOX10	Telecanthus	HP:0000506
6663	SOX10	Ptosis	HP:0000508
6663	SOX10	Hypertonia	HP:0001276
6663	SOX10	Hypoplasia of the iris	HP:0007676
6663	SOX10	Reduced bone mineral density	HP:0004349
6663	SOX10	Pectus excavatum	HP:0000767
6664	SOX11	Clinodactyly	HP:0030084
6664	SOX11	Autosomal dominant inheritance	HP:0000006
6664	SOX11	Cataract	HP:0000518
6664	SOX11	Congenital diaphragmatic hernia	HP:0000776
6664	SOX11	Long eyelashes	HP:0000527
6664	SOX11	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	HP:0100371
6664	SOX11	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	HP:0009239
6664	SOX11	Midface retrusion	HP:0011800
6664	SOX11	Coarse facial features	HP:0000280
6664	SOX11	Dandy-Walker malformation	HP:0001305
6664	SOX11	Short distal phalanx of finger	HP:0009882
6664	SOX11	Wide mouth	HP:0000154
6664	SOX11	Cryptorchidism	HP:0000028
6664	SOX11	Recurrent respiratory infections	HP:0002205
6664	SOX11	Epicanthus	HP:0000286
6664	SOX11	Hypoplasia of the corpus callosum	HP:0002079
6664	SOX11	Depressed nasal bridge	HP:0005280
6664	SOX11	Hypoplastic fifth toenail	HP:0011937
6664	SOX11	Underdeveloped supraorbital ridges	HP:0009891
6664	SOX11	Abnormality of the dentition	HP:0000164
6664	SOX11	Full cheeks	HP:0000293
6664	SOX11	Abnormality of the nares	HP:0005288
6664	SOX11	Feeding difficulties in infancy	HP:0008872
6664	SOX11	Slow-growing hair	HP:0002217
6664	SOX11	Underdeveloped nasal alae	HP:0000430
6664	SOX11	Bilateral single transverse palmar creases	HP:0007598
6664	SOX11	Wide nasal bridge	HP:0000431
6664	SOX11	Cleft palate	HP:0000175
6664	SOX11	Thick lower lip vermilion	HP:0000179
6664	SOX11	Generalized hirsutism	HP:0002230
6664	SOX11	Thick vermilion border	HP:0012471
6664	SOX11	Partial agenesis of the corpus callosum	HP:0001338
6664	SOX11	Joint hyperflexibility	HP:0005692
6664	SOX11	Thick eyebrow	HP:0000574
6664	SOX11	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6664	SOX11	Open mouth	HP:0000194
6664	SOX11	Short philtrum	HP:0000322
6664	SOX11	Cutis marmorata	HP:0000965
6664	SOX11	Abnormality of the hip bone	HP:0003272
6664	SOX11	Abnormality of the columella	HP:0009929
6664	SOX11	Short palpebral fissure	HP:0012745
6664	SOX11	Depressed nasal ridge	HP:0000457
6664	SOX11	Short chin	HP:0000331
6664	SOX11	Hypoplastic fifth fingernail	HP:0008398
6664	SOX11	Abnormal facial shape	HP:0001999
6664	SOX11	Ectopic kidney	HP:0000086
6664	SOX11	Abnormality of cardiovascular system morphology	HP:0030680
6664	SOX11	Scoliosis	HP:0002650
6664	SOX11	Intellectual disability	HP:0001249
6664	SOX11	Short stature	HP:0004322
6664	SOX11	Spina bifida occulta	HP:0003298
6664	SOX11	Seizures	HP:0001250
6664	SOX11	Elbow dislocation	HP:0003042
6664	SOX11	Aplasia/Hypoplasia of the patella	HP:0006498
6664	SOX11	Muscular hypotonia	HP:0001252
6664	SOX11	Hypertrichosis	HP:0000998
6664	SOX11	Growth delay	HP:0001510
6664	SOX11	Posteriorly rotated ears	HP:0000358
6664	SOX11	Renal hypoplasia/aplasia	HP:0008678
6664	SOX11	Strabismus	HP:0000486
6664	SOX11	Intrauterine growth retardation	HP:0001511
6664	SOX11	Intellectual disability, mild	HP:0001256
6664	SOX11	Everted lower lip vermilion	HP:0000232
6664	SOX11	Hearing impairment	HP:0000365
6664	SOX11	Global developmental delay	HP:0001263
6664	SOX11	Low-set ears	HP:0000369
6664	SOX11	Coxa valga	HP:0002673
6664	SOX11	Abnormality of the intervertebral disk	HP:0005108
6664	SOX11	Long nose	HP:0003189
6664	SOX11	Kyphosis	HP:0002808
6664	SOX11	Lacrimation abnormality	HP:0000632
6664	SOX11	Highly arched eyebrow	HP:0002553
6664	SOX11	Abnormality of the clavicle	HP:0000889
6664	SOX11	Microcephaly	HP:0000252
6664	SOX11	Short nose	HP:0003196
6664	SOX11	Ptosis	HP:0000508
6664	SOX11	Hydronephrosis	HP:0000126
6664	SOX11	Nystagmus	HP:0000639
55823	VPS11	Absent speech	HP:0001344
55823	VPS11	Febrile seizures	HP:0002373
55823	VPS11	Oromotor apraxia	HP:0007301
55823	VPS11	Central hypotonia	HP:0011398
55823	VPS11	Ventriculomegaly	HP:0002119
55823	VPS11	Autosomal recessive inheritance	HP:0000007
55823	VPS11	Optic atrophy	HP:0000648
55823	VPS11	Neurogenic bladder	HP:0000011
55823	VPS11	Delayed CNS myelination	HP:0002188
55823	VPS11	Multiple joint contractures	HP:0002828
55823	VPS11	Severe global developmental delay	HP:0011344
55823	VPS11	Focal impaired awareness seizure	HP:0002384
55823	VPS11	Temperature instability	HP:0005968
55823	VPS11	Abnormality of the periventricular white matter	HP:0002518
55823	VPS11	Sensorineural hearing impairment	HP:0000407
55823	VPS11	Cerebral hypomyelination	HP:0006808
55823	VPS11	Flexion contracture	HP:0001371
55823	VPS11	Hypoplasia of the corpus callosum	HP:0002079
55823	VPS11	Delayed myelination	HP:0012448
55823	VPS11	Intellectual disability	HP:0001249
55823	VPS11	Poor speech	HP:0002465
55823	VPS11	Cerebral visual impairment	HP:0100704
55823	VPS11	Constipation	HP:0002019
55823	VPS11	Diffuse white matter abnormalities	HP:0007204
55823	VPS11	Growth delay	HP:0001510
55823	VPS11	Muscular hypotonia of the trunk	HP:0008936
55823	VPS11	Spasticity	HP:0001257
55823	VPS11	Abnormal autonomic nervous system physiology	HP:0012332
55823	VPS11	Postnatal microcephaly	HP:0005484
55823	VPS11	Hearing impairment	HP:0000365
55823	VPS11	Reduced visual acuity	HP:0007663
55823	VPS11	Global developmental delay	HP:0001263
55823	VPS11	Developmental stagnation	HP:0007281
55823	VPS11	Cerebellar atrophy	HP:0001272
55823	VPS11	Microcephaly	HP:0000252
6674	SPAG1	Rhinitis	HP:0012384
6674	SPAG1	Situs inversus totalis	HP:0001696
6674	SPAG1	Recurrent otitis media	HP:0000403
6674	SPAG1	Recurrent sinusitis	HP:0011108
6674	SPAG1	Chronic bronchitis	HP:0004469
6674	SPAG1	Autosomal recessive inheritance	HP:0000007
6674	SPAG1	Ciliary dyskinesia	HP:0012265
6674	SPAG1	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
6674	SPAG1	Recurrent respiratory infections	HP:0002205
6674	SPAG1	Bronchiectasis	HP:0002110
203286	ANKS6	Situs inversus totalis	HP:0001696
203286	ANKS6	Polycystic kidney dysplasia	HP:0000113
203286	ANKS6	Aortic valve stenosis	HP:0001650
203286	ANKS6	Hepatic fibrosis	HP:0001395
203286	ANKS6	Renal insufficiency	HP:0000083
203286	ANKS6	Cholestasis	HP:0001396
203286	ANKS6	Autosomal recessive inheritance	HP:0000007
203286	ANKS6	Hypertrophic cardiomyopathy	HP:0001639
203286	ANKS6	Enlarged kidney	HP:0000105
203286	ANKS6	Nephronophthisis	HP:0000090
203286	ANKS6	Pulmonic stenosis	HP:0001642
203286	ANKS6	Patent ductus arteriosus	HP:0001643
6678	SPARC	Short stature	HP:0004322
6678	SPARC	Muscular hypotonia	HP:0001252
6678	SPARC	Thin metacarpal cortices	HP:0006086
6678	SPARC	Autosomal recessive inheritance	HP:0000007
6678	SPARC	Vertebral compression fractures	HP:0002953
6678	SPARC	Osteoporosis	HP:0000939
6678	SPARC	Muscle weakness	HP:0001324
6678	SPARC	Delayed speech and language development	HP:0000750
6678	SPARC	Soft skin	HP:0000977
6678	SPARC	Motor delay	HP:0001270
6678	SPARC	Scoliosis	HP:0002650
6678	SPARC	Intraventricular hemorrhage	HP:0030746
6678	SPARC	Platyspondyly	HP:0000926
6678	SPARC	Decreased muscle mass	HP:0003199
285203	EOGT	Aplastic/hypoplastic toenail	HP:0010624
285203	EOGT	Umbilical hernia	HP:0001537
285203	EOGT	Portal hypertension	HP:0001409
285203	EOGT	Brachydactyly	HP:0001156
285203	EOGT	Ascites	HP:0001541
285203	EOGT	Cataract	HP:0000518
285203	EOGT	Sparse hair	HP:0008070
285203	EOGT	Autosomal recessive inheritance	HP:0000007
285203	EOGT	Hypoplastic toenails	HP:0001800
285203	EOGT	Absent toe	HP:0010760
285203	EOGT	Abnormality of the metacarpal bones	HP:0001163
285203	EOGT	Hypoplastic fingernail	HP:0001804
285203	EOGT	Split hand	HP:0001171
285203	EOGT	Absent fingernail	HP:0001817
285203	EOGT	Short distal phalanx of finger	HP:0009882
285203	EOGT	Aplasia cutis congenita	HP:0001057
285203	EOGT	Encephalocele	HP:0002084
285203	EOGT	Short toe	HP:0001831
285203	EOGT	Pulmonary arterial hypertension	HP:0002092
285203	EOGT	EEG abnormality	HP:0002353
285203	EOGT	Congenital hepatic fibrosis	HP:0002612
285203	EOGT	Microphthalmia	HP:0000568
285203	EOGT	Periventricular leukomalacia	HP:0006970
285203	EOGT	Arteriovenous malformation	HP:0100026
285203	EOGT	Toenail dysplasia	HP:0100797
285203	EOGT	Alopecia	HP:0001596
285203	EOGT	Gastrointestinal hemorrhage	HP:0002239
285203	EOGT	Cutis marmorata	HP:0000965
285203	EOGT	Pulmonary artery atresia	HP:0004935
285203	EOGT	Thrombocytopenia	HP:0001873
285203	EOGT	Absent hand	HP:0004050
285203	EOGT	Calvarial skull defect	HP:0001362
285203	EOGT	Porencephalic cyst	HP:0002132
285203	EOGT	Finger syndactyly	HP:0006101
285203	EOGT	Premature birth	HP:0001622
285203	EOGT	Leukopenia	HP:0001882
285203	EOGT	Talipes	HP:0001883
285203	EOGT	Ventricular septal defect	HP:0001629
285203	EOGT	Atrial septal defect	HP:0001631
285203	EOGT	Intellectual disability	HP:0001249
285203	EOGT	Seizures	HP:0001250
285203	EOGT	Tetralogy of Fallot	HP:0001636
285203	EOGT	Failure to thrive	HP:0001508
285203	EOGT	Strabismus	HP:0000486
285203	EOGT	Abnormal pulmonary valve morphology	HP:0001641
285203	EOGT	Patent ductus arteriosus	HP:0001643
285203	EOGT	Hydrocephalus	HP:0000238
285203	EOGT	Cirrhosis	HP:0001394
285203	EOGT	Hemiparesis	HP:0001269
285203	EOGT	Esophageal varix	HP:0002040
285203	EOGT	Hypertonia	HP:0001276
23064	SETX	Gaze-evoked nystagmus	HP:0000640
23064	SETX	Saccadic smooth pursuit	HP:0001152
23064	SETX	Hypoalbuminemia	HP:0003073
23064	SETX	Skeletal muscle atrophy	HP:0003202
23064	SETX	Areflexia	HP:0001284
23064	SETX	Autosomal dominant inheritance	HP:0000006
23064	SETX	Autosomal recessive inheritance	HP:0000007
23064	SETX	Gait disturbance	HP:0001288
23064	SETX	Conjunctival telangiectasia	HP:0000524
23064	SETX	Axonal degeneration	HP:0040078
23064	SETX	Oculomotor apraxia	HP:0000657
23064	SETX	Sensory impairment	HP:0003474
23064	SETX	Gait ataxia	HP:0002066
23064	SETX	Peripheral axonal neuropathy	HP:0003477
23064	SETX	Limb ataxia	HP:0002070
23064	SETX	Urinary bladder sphincter dysfunction	HP:0002839
23064	SETX	Chorea	HP:0002072
23064	SETX	Impaired distal tactile sensation	HP:0006937
23064	SETX	Distal muscle weakness	HP:0002460
23064	SETX	Babinski sign	HP:0003487
23064	SETX	Elevated serum creatine kinase	HP:0003236
23064	SETX	Pallor of dorsal columns of the spinal cord	HP:0006825
23064	SETX	Head tremor	HP:0002346
23064	SETX	Difficulty walking	HP:0002355
23064	SETX	Hypercholesterolemia	HP:0003124
23064	SETX	Dystonia	HP:0001332
23064	SETX	Tremor	HP:0001337
23064	SETX	Amyotrophic lateral sclerosis	HP:0007354
23064	SETX	Abnormal lower motor neuron morphology	HP:0002366
23064	SETX	Hyperreflexia	HP:0001347
23064	SETX	Cerebellar vermis atrophy	HP:0006855
23064	SETX	Progressive gait ataxia	HP:0007240
23064	SETX	Diffuse axonal swelling	HP:0003405
23064	SETX	Increased antibody level in blood	HP:0010702
23064	SETX	Abnormal upper motor neuron morphology	HP:0002127
23064	SETX	Impaired proprioception	HP:0010831
23064	SETX	Abnormal pyramidal sign	HP:0007256
23064	SETX	Scoliosis	HP:0002650
23064	SETX	Progressive	HP:0003676
23064	SETX	Slow progression	HP:0003677
23064	SETX	Gait imbalance	HP:0002141
23064	SETX	Degeneration of anterior horn cells	HP:0002398
23064	SETX	Dysphagia	HP:0002015
23064	SETX	Pontocerebellar atrophy	HP:0006879
23064	SETX	Pes cavus	HP:0001761
23064	SETX	Ataxia	HP:0001251
23064	SETX	Chronic axonal neuropathy	HP:0007267
23064	SETX	Sensorimotor neuropathy	HP:0007141
23064	SETX	Strabismus	HP:0000486
23064	SETX	Impaired distal vibration sensation	HP:0006886
23064	SETX	Decreased motor nerve conduction velocity	HP:0003431
23064	SETX	Spastic paraplegia	HP:0001258
23064	SETX	Dysarthria	HP:0001260
23064	SETX	Distal amyotrophy	HP:0003693
23064	SETX	Elevated alpha-fetoprotein	HP:0006254
23064	SETX	Hyporeflexia	HP:0001265
23064	SETX	Choreoathetosis	HP:0001266
23064	SETX	Variable expressivity	HP:0003828
23064	SETX	Polyneuropathy	HP:0001271
23064	SETX	Cerebellar atrophy	HP:0001272
23064	SETX	Clonus	HP:0002169
23064	SETX	Peripheral axonal degeneration	HP:0000764
23064	SETX	Postural tremor	HP:0002174
23064	SETX	Nystagmus	HP:0000639
23065	EMC1	Abnormal electroretinogram	HP:0000512
23065	EMC1	Short philtrum	HP:0000322
23065	EMC1	Autosomal recessive inheritance	HP:0000007
23065	EMC1	Optic atrophy	HP:0000648
23065	EMC1	Abnormality of visual evoked potentials	HP:0000649
23065	EMC1	Generalized hypotonia	HP:0001290
23065	EMC1	Cerebral atrophy	HP:0002059
23065	EMC1	Corpus callosum atrophy	HP:0007371
23065	EMC1	Psychomotor retardation	HP:0025356
23065	EMC1	Limb hypertonia	HP:0002509
23065	EMC1	Gingival overgrowth	HP:0000212
23065	EMC1	Retrognathia	HP:0000278
23065	EMC1	Scoliosis	HP:0002650
23065	EMC1	Micrognathia	HP:0000347
23065	EMC1	Progressive	HP:0003676
23065	EMC1	Hypermetropia	HP:0000540
23065	EMC1	Hypoplasia of the corpus callosum	HP:0002079
23065	EMC1	Intellectual disability	HP:0001249
23065	EMC1	Cerebral visual impairment	HP:0100704
23065	EMC1	Myopia	HP:0000545
23065	EMC1	Seizures	HP:0001250
23065	EMC1	Astigmatism	HP:0000483
23065	EMC1	Low anterior hairline	HP:0000294
23065	EMC1	Anal atresia	HP:0002023
23065	EMC1	Muscular hypotonia of the trunk	HP:0008936
23065	EMC1	Deeply set eye	HP:0000490
23065	EMC1	Postnatal microcephaly	HP:0005484
23065	EMC1	Delayed speech and language development	HP:0000750
23065	EMC1	Global developmental delay	HP:0001263
23065	EMC1	Hyporeflexia	HP:0001265
23065	EMC1	Laryngotracheomalacia	HP:0008755
23065	EMC1	Dystonia	HP:0001332
23065	EMC1	Esotropia	HP:0000565
23065	EMC1	Cerebellar atrophy	HP:0001272
23065	EMC1	Prominent fingertip pads	HP:0001212
23065	EMC1	Hypertelorism	HP:0000316
23065	EMC1	Short upper lip	HP:0000188
129563	DIS3L2	Macrocephaly	HP:0000256
129563	DIS3L2	Ascites	HP:0001541
129563	DIS3L2	Autosomal recessive inheritance	HP:0000007
129563	DIS3L2	Thickened helices	HP:0000391
129563	DIS3L2	Congenital diaphragmatic hernia	HP:0000776
129563	DIS3L2	Dolichocephaly	HP:0000268
129563	DIS3L2	Aniridia	HP:0000526
129563	DIS3L2	Nephrogenic rest	HP:0100880
129563	DIS3L2	High, narrow palate	HP:0002705
129563	DIS3L2	Volvulus	HP:0002580
129563	DIS3L2	Retrognathia	HP:0000278
129563	DIS3L2	Hematuria	HP:0000790
129563	DIS3L2	Inguinal hernia	HP:0000023
129563	DIS3L2	Polyhydramnios	HP:0001561
129563	DIS3L2	Fever	HP:0001945
129563	DIS3L2	Cryptorchidism	HP:0000028
129563	DIS3L2	Lymphadenopathy	HP:0002716
129563	DIS3L2	Pancreatic islet-cell hyperplasia	HP:0004510
129563	DIS3L2	Epicanthus	HP:0000286
129563	DIS3L2	Depressed nasal bridge	HP:0005280
129563	DIS3L2	Hypoplasia of penis	HP:0008736
129563	DIS3L2	Weight loss	HP:0001824
129563	DIS3L2	Bilateral single transverse palmar creases	HP:0007598
129563	DIS3L2	Wide nasal bridge	HP:0000431
129563	DIS3L2	Neoplasm of the lung	HP:0100526
129563	DIS3L2	Specific learning disability	HP:0001328
129563	DIS3L2	Tented upper lip vermilion	HP:0010804
129563	DIS3L2	Hypertension	HP:0000822
129563	DIS3L2	Distal ileal atresia	HP:0200116
129563	DIS3L2	Round face	HP:0000311
129563	DIS3L2	Capillary hemangioma	HP:0005306
129563	DIS3L2	Abnormal pancreas morphology	HP:0012090
129563	DIS3L2	Broad alveolar ridges	HP:0000187
129563	DIS3L2	Femoral hernia	HP:0100541
129563	DIS3L2	Smooth philtrum	HP:0000319
129563	DIS3L2	Hepatomegaly	HP:0002240
129563	DIS3L2	Open mouth	HP:0000194
129563	DIS3L2	Nephroblastomatosis	HP:0008643
129563	DIS3L2	Visceromegaly	HP:0003271
129563	DIS3L2	Edema	HP:0000969
129563	DIS3L2	Hyperinsulinemia	HP:0000842
129563	DIS3L2	Long upper lip	HP:0011341
129563	DIS3L2	Abnormal facial shape	HP:0001999
129563	DIS3L2	Anteverted nares	HP:0000463
129563	DIS3L2	Neoplasm of the liver	HP:0002896
129563	DIS3L2	Status epilepticus	HP:0002133
129563	DIS3L2	Abnormality of the cardiovascular system	HP:0001626
129563	DIS3L2	Interrupted aortic arch	HP:0011611
129563	DIS3L2	Micrognathia	HP:0000347
129563	DIS3L2	High forehead	HP:0000348
129563	DIS3L2	Intellectual disability	HP:0001249
129563	DIS3L2	Tall stature	HP:0000098
129563	DIS3L2	Growth abnormality	HP:0001507
129563	DIS3L2	Muscular hypotonia	HP:0001252
129563	DIS3L2	Posteriorly rotated ears	HP:0000358
129563	DIS3L2	Deeply set eye	HP:0000490
129563	DIS3L2	Nephroblastoma	HP:0002667
129563	DIS3L2	Abdominal pain	HP:0002027
129563	DIS3L2	Naevus flammeus of the eyelid	HP:0010733
129563	DIS3L2	Global developmental delay	HP:0001263
129563	DIS3L2	Large for gestational age	HP:0001520
129563	DIS3L2	Low-set ears	HP:0000369
129563	DIS3L2	Renal hamartoma	HP:0008696
129563	DIS3L2	Agenesis of corpus callosum	HP:0001274
129563	DIS3L2	Short nose	HP:0003196
129563	DIS3L2	Ptosis	HP:0000508
129563	DIS3L2	Hypoplasia of the abdominal wall musculature	HP:0005247
113179	ADAT3	Delayed myelination	HP:0012448
113179	ADAT3	Intellectual disability	HP:0001249
113179	ADAT3	Seizures	HP:0001250
113179	ADAT3	Failure to thrive	HP:0001508
113179	ADAT3	Upslanted palpebral fissure	HP:0000582
113179	ADAT3	Autosomal recessive inheritance	HP:0000007
113179	ADAT3	Infantile onset	HP:0003593
113179	ADAT3	Spasticity	HP:0001257
113179	ADAT3	Generalized hypotonia	HP:0001290
113179	ADAT3	Aggressive behavior	HP:0000718
113179	ADAT3	Abnormal facial shape	HP:0001999
113179	ADAT3	Hyperactivity	HP:0000752
113179	ADAT3	Prominent forehead	HP:0011220
113179	ADAT3	Esotropia	HP:0000565
113179	ADAT3	Growth hormone deficiency	HP:0000824
113179	ADAT3	Agenesis of corpus callosum	HP:0001274
113179	ADAT3	Telecanthus	HP:0000506
113179	ADAT3	Microcephaly	HP:0000252
113179	ADAT3	Brain atrophy	HP:0012444
113179	ADAT3	High forehead	HP:0000348
113179	ADAT3	Epicanthus	HP:0000286
55835	CENPJ	Absent earlobe	HP:0000387
55835	CENPJ	Autosomal recessive inheritance	HP:0000007
55835	CENPJ	Heterogeneous	HP:0001425
55835	CENPJ	Narrow face	HP:0000275
55835	CENPJ	Retrognathia	HP:0000278
55835	CENPJ	Pachygyria	HP:0001302
55835	CENPJ	Abnormal cortical bone morphology	HP:0003103
55835	CENPJ	Sparse scalp hair	HP:0002209
55835	CENPJ	Hypoplasia of the frontal lobes	HP:0007333
55835	CENPJ	Intellectual disability, moderate	HP:0002342
55835	CENPJ	Small cerebral cortex	HP:0002472
55835	CENPJ	Abnormality of dental enamel	HP:0000682
55835	CENPJ	Underdeveloped nasal alae	HP:0000430
55835	CENPJ	Convex nasal ridge	HP:0000444
55835	CENPJ	Sandal gap	HP:0001852
55835	CENPJ	Joint hyperflexibility	HP:0005692
55835	CENPJ	Cognitive impairment	HP:0100543
55835	CENPJ	Delayed skeletal maturation	HP:0002750
55835	CENPJ	Hyperreflexia	HP:0001347
55835	CENPJ	Upslanted palpebral fissure	HP:0000582
55835	CENPJ	Prematurely aged appearance	HP:0007495
55835	CENPJ	Ventriculomegaly	HP:0002119
55835	CENPJ	Reduced number of teeth	HP:0009804
55835	CENPJ	Vesicoureteral reflux	HP:0000076
55835	CENPJ	Mild global developmental delay	HP:0011342
55835	CENPJ	Craniosynostosis	HP:0001363
55835	CENPJ	Cone-shaped epiphysis	HP:0010579
55835	CENPJ	Sloping forehead	HP:0000340
55835	CENPJ	Steep acetabular roof	HP:0010455
55835	CENPJ	Scoliosis	HP:0002650
55835	CENPJ	Micrognathia	HP:0000347
55835	CENPJ	Thin upper lip vermilion	HP:0000219
55835	CENPJ	High forehead	HP:0000348
55835	CENPJ	Intellectual disability	HP:0001249
55835	CENPJ	Short stature	HP:0004322
55835	CENPJ	Decreased body weight	HP:0004325
55835	CENPJ	Cachexia	HP:0004326
55835	CENPJ	Intrauterine growth retardation	HP:0001511
55835	CENPJ	Hip dysplasia	HP:0001385
55835	CENPJ	Gray matter heterotopia	HP:0002282
55835	CENPJ	11 pairs of ribs	HP:0000878
55835	CENPJ	Downslanted palpebral fissures	HP:0000494
55835	CENPJ	Global developmental delay	HP:0001263
55835	CENPJ	Intellectual disability, severe	HP:0010864
55835	CENPJ	Low-set ears	HP:0000369
55835	CENPJ	Clinodactyly of the 5th finger	HP:0004209
55835	CENPJ	Glaucoma	HP:0000501
55835	CENPJ	Congenital onset	HP:0003577
55835	CENPJ	Unilateral renal agenesis	HP:0000122
55835	CENPJ	Agenesis of corpus callosum	HP:0001274
55835	CENPJ	Microcephaly	HP:0000252
6683	SPAST	Insidious onset	HP:0003587
6683	SPAST	Hyperreflexia	HP:0001347
6683	SPAST	Brisk reflexes	HP:0001348
6683	SPAST	Autosomal dominant inheritance	HP:0000006
6683	SPAST	Leg muscle stiffness	HP:0008969
6683	SPAST	Agitation	HP:0000713
6683	SPAST	Degeneration of the lateral corticospinal tracts	HP:0002314
6683	SPAST	Urinary urgency	HP:0000012
6683	SPAST	Depressivity	HP:0000716
6683	SPAST	Lower limb spasticity	HP:0002061
6683	SPAST	Functional motor deficit	HP:0004302
6683	SPAST	Aggressive behavior	HP:0000718
6683	SPAST	Spastic gait	HP:0002064
6683	SPAST	Urinary incontinence	HP:0000020
6683	SPAST	Dementia	HP:0000726
6683	SPAST	Urinary bladder sphincter dysfunction	HP:0002839
6683	SPAST	Impaired vibration sensation at ankles	HP:0006938
6683	SPAST	Low back pain	HP:0003419
6683	SPAST	Progressive	HP:0003676
6683	SPAST	Disinhibition	HP:0000734
6683	SPAST	Babinski sign	HP:0003487
6683	SPAST	Genetic anticipation	HP:0003743
6683	SPAST	Intellectual disability	HP:0001249
6683	SPAST	Pes cavus	HP:0001761
6683	SPAST	Seizures	HP:0001250
6683	SPAST	Ataxia	HP:0001251
6683	SPAST	Apathy	HP:0000741
6683	SPAST	Spastic paraplegia	HP:0001258
6683	SPAST	Dysarthria	HP:0001260
6683	SPAST	Lower limb muscle weakness	HP:0007340
6683	SPAST	Distal amyotrophy	HP:0003693
6683	SPAST	Memory impairment	HP:0002354
6683	SPAST	Variable expressivity	HP:0003828
6683	SPAST	Hyperreflexia in upper limbs	HP:0007350
6683	SPAST	Paraplegia	HP:0010550
6683	SPAST	Impaired vibration sensation in the lower limbs	HP:0002166
6683	SPAST	Ankle clonus	HP:0011448
6683	SPAST	Cognitive impairment	HP:0100543
6683	SPAST	Nystagmus	HP:0000639
6687	SPG7	Ragged-red muscle fibers	HP:0003200
6687	SPG7	Abnormal mitochondrial morphology	HP:0008322
6687	SPG7	Loss of speech	HP:0002371
6687	SPG7	Hyperreflexia	HP:0001347
6687	SPG7	Abnormality of the cerebral white matter	HP:0002500
6687	SPG7	Autosomal dominant inheritance	HP:0000006
6687	SPG7	Autosomal recessive inheritance	HP:0000007
6687	SPG7	Cerebral cortical atrophy	HP:0002120
6687	SPG7	Optic atrophy	HP:0000648
6687	SPG7	Degeneration of the lateral corticospinal tracts	HP:0002314
6687	SPG7	Nasal speech	HP:0001611
6687	SPG7	Urinary urgency	HP:0000012
6687	SPG7	Lower limb spasticity	HP:0002061
6687	SPG7	Abnormal upper motor neuron morphology	HP:0002127
6687	SPG7	Spastic gait	HP:0002064
6687	SPG7	Gait ataxia	HP:0002066
6687	SPG7	Urinary incontinence	HP:0000020
6687	SPG7	Urinary bladder sphincter dysfunction	HP:0002839
6687	SPG7	Pseudobulbar signs	HP:0002200
6687	SPG7	Scoliosis	HP:0002650
6687	SPG7	Motor axonal neuropathy	HP:0007002
6687	SPG7	Lower limb hyperreflexia	HP:0002395
6687	SPG7	Upper limb muscle weakness	HP:0003484
6687	SPG7	Supranuclear gaze palsy	HP:0000605
6687	SPG7	Dysphagia	HP:0002015
6687	SPG7	Optic disc pallor	HP:0000543
6687	SPG7	Babinski sign	HP:0003487
6687	SPG7	Progressive spastic paraparesis	HP:0007199
6687	SPG7	Spastic dysarthria	HP:0002464
6687	SPG7	Pes cavus	HP:0001761
6687	SPG7	Lower limb pain	HP:0012514
6687	SPG7	Attention deficit hyperactivity disorder	HP:0007018
6687	SPG7	Spastic paraplegia	HP:0001258
6687	SPG7	Dysarthria	HP:0001260
6687	SPG7	Lower limb muscle weakness	HP:0007340
6687	SPG7	Lower limb hypertonia	HP:0006895
6687	SPG7	Specific learning disability	HP:0001328
6687	SPG7	Memory impairment	HP:0002354
6687	SPG7	EMG: chronic denervation signs	HP:0003444
6687	SPG7	Impaired vibration sensation in the lower limbs	HP:0002166
6687	SPG7	Cerebellar atrophy	HP:0001272
6687	SPG7	Cervical spinal cord atrophy	HP:0010873
6687	SPG7	Generalized hyperreflexia	HP:0007034
6687	SPG7	Slowed slurred speech	HP:0007164
6687	SPG7	Adult onset	HP:0003581
6687	SPG7	Nystagmus	HP:0000639
6689	SPIB	Hypoalbuminemia	HP:0003073
6689	SPIB	Portal hypertension	HP:0001409
6689	SPIB	Dermatographic urticaria	HP:0011971
6689	SPIB	Ascites	HP:0001541
6689	SPIB	Abdominal distention	HP:0003270
6689	SPIB	Elevated alkaline phosphatase	HP:0003155
6689	SPIB	Hepatitis	HP:0012115
6689	SPIB	Fatigue	HP:0012378
6689	SPIB	Conjugated hyperbilirubinemia	HP:0002908
6689	SPIB	Pruritus	HP:0000989
6689	SPIB	Abnormality of the intrahepatic bile duct	HP:0011040
6689	SPIB	Gastrointestinal inflammation	HP:0004386
6689	SPIB	Antinuclear antibody positivity	HP:0003493
6689	SPIB	Increased circulating IgM level	HP:0003496
6689	SPIB	Osteoporosis	HP:0000939
6689	SPIB	Onychomycosis	HP:0012203
6689	SPIB	Excessive daytime somnolence	HP:0001262
6689	SPIB	Abnormal circulating lipid concentration	HP:0003119
6689	SPIB	Celiac disease	HP:0002608
6689	SPIB	Cirrhosis	HP:0001394
6689	SPIB	Hepatic fibrosis	HP:0001395
6689	SPIB	Abnormality of the thyroid gland	HP:0000820
6689	SPIB	Biliary cirrhosis	HP:0002613
6689	SPIB	Hepatic failure	HP:0001399
6689	SPIB	Jaundice	HP:0000952
6689	SPIB	Hyperpigmentation of the skin	HP:0000953
6689	SPIB	Hepatocellular carcinoma	HP:0001402
6689	SPIB	Increased circulating IgA level	HP:0003261
6689	SPIB	Orthostatic hypotension	HP:0001278
6690	SPINK1	Pancreatitis	HP:0001733
6690	SPINK1	Autosomal dominant inheritance	HP:0000006
6690	SPINK1	Autosomal recessive inheritance	HP:0000007
6690	SPINK1	Splanchnic vein thrombosis	HP:0030247
6690	SPINK1	Chronic pancreatitis	HP:0006280
6690	SPINK1	Steatorrhea	HP:0002570
6690	SPINK1	Exocrine pancreatic insufficiency	HP:0001738
6690	SPINK1	Abdominal pain	HP:0002027
6690	SPINK1	Insulin-dependent but ketosis-resistant diabetes	HP:0008205
6690	SPINK1	Neoplasm of the pancreas	HP:0002894
6690	SPINK1	Diabetes mellitus	HP:0000819
6690	SPINK1	Pancreatic pseudocyst	HP:0005206
6690	SPINK1	Leukocytosis	HP:0001974
6690	SPINK1	Jaundice	HP:0000952
6690	SPINK1	Fever	HP:0001945
6690	SPINK1	Abnormal thrombosis	HP:0001977
6690	SPINK1	Pleural effusion	HP:0002202
6690	SPINK1	Recurrent pancreatitis	HP:0100027
6690	SPINK1	Elevated C-reactive protein level	HP:0011227
6690	SPINK1	Abnormal enzyme/coenzyme activity	HP:0012379
6690	SPINK1	Pancreatic calcification	HP:0005213
6691	SPINK2	Azoospermia	HP:0000027
113189	CHST14	Umbilical hernia	HP:0001537
113189	CHST14	Diastasis recti	HP:0001540
113189	CHST14	Ecchymosis	HP:0031364
113189	CHST14	Intestinal malrotation	HP:0002566
113189	CHST14	Fragile skin	HP:0001030
113189	CHST14	Autosomal recessive inheritance	HP:0000007
113189	CHST14	Generalized hypotonia	HP:0001290
113189	CHST14	Delayed cranial suture closure	HP:0000270
113189	CHST14	Arachnodactyly	HP:0001166
113189	CHST14	Abnormality of the mouth	HP:0000153
113189	CHST14	Protruding ear	HP:0000411
113189	CHST14	Cryptorchidism	HP:0000028
113189	CHST14	Hyperalgesia	HP:0031005
113189	CHST14	Retinal detachment	HP:0000541
113189	CHST14	Adducted thumb	HP:0001181
113189	CHST14	Narrow mouth	HP:0000160
113189	CHST14	Myopia	HP:0000545
113189	CHST14	Recurrent skin infections	HP:0001581
113189	CHST14	Cleft palate	HP:0000175
113189	CHST14	Microretrognathia	HP:0000308
113189	CHST14	Distal arthrogryposis	HP:0005684
113189	CHST14	Pneumothorax	HP:0002107
113189	CHST14	Hypertelorism	HP:0000316
113189	CHST14	Facial asymmetry	HP:0000324
113189	CHST14	Abnormality of the duodenum	HP:0002246
113189	CHST14	Ventriculomegaly	HP:0002119
113189	CHST14	Flat forehead	HP:0004425
113189	CHST14	Generalized joint laxity	HP:0002761
113189	CHST14	Hyperextensible skin	HP:0000974
113189	CHST14	Abnormal facial shape	HP:0001999
113189	CHST14	Blue sclerae	HP:0000592
113189	CHST14	Broad forehead	HP:0000337
113189	CHST14	Abnormal anterior chamber morphology	HP:0000593
113189	CHST14	Bruising susceptibility	HP:0000978
113189	CHST14	Long philtrum	HP:0000343
113189	CHST14	High palate	HP:0000218
113189	CHST14	Scarring	HP:0100699
113189	CHST14	Scoliosis	HP:0002650
113189	CHST14	Thin upper lip vermilion	HP:0000219
113189	CHST14	Joint dislocation	HP:0001373
113189	CHST14	Atrial septal defect	HP:0001631
113189	CHST14	Intellectual disability	HP:0001249
113189	CHST14	Microcornea	HP:0000482
113189	CHST14	Talipes equinovarus	HP:0001762
113189	CHST14	Constipation	HP:0002019
113189	CHST14	Nephrotic syndrome	HP:0000100
113189	CHST14	Strabismus	HP:0000486
113189	CHST14	Posteriorly rotated ears	HP:0000358
113189	CHST14	Joint laxity	HP:0001388
113189	CHST14	Hearing impairment	HP:0000365
113189	CHST14	Downslanted palpebral fissures	HP:0000494
113189	CHST14	Large fontanelles	HP:0000239
113189	CHST14	Global developmental delay	HP:0001263
113189	CHST14	Arthrogryposis multiplex congenita	HP:0002804
113189	CHST14	Hiatus hernia	HP:0002036
113189	CHST14	Glaucoma	HP:0000501
113189	CHST14	Motor delay	HP:0001270
113189	CHST14	Brachycephaly	HP:0000248
113189	CHST14	Telecanthus	HP:0000506
113189	CHST14	Hydronephrosis	HP:0000126
113189	CHST14	Pectus excavatum	HP:0000767
6697	SPR	Hyperreflexia	HP:0001347
6697	SPR	Autosomal dominant inheritance	HP:0000006
6697	SPR	Autosomal recessive inheritance	HP:0000007
6697	SPR	Infantile onset	HP:0003593
6697	SPR	Limb hypertonia	HP:0002509
6697	SPR	Aggressive behavior	HP:0000718
6697	SPR	Rigidity	HP:0002063
6697	SPR	Hyperhidrosis	HP:0000975
6697	SPR	Temperature instability	HP:0005968
6697	SPR	Oculomotor apraxia	HP:0000657
6697	SPR	Hypomimic face	HP:0000338
6697	SPR	Bradykinesia	HP:0002067
6697	SPR	Drowsiness	HP:0002329
6697	SPR	Intellectual disability	HP:0001249
6697	SPR	Seizures	HP:0001250
6697	SPR	Ataxia	HP:0001251
6697	SPR	Growth delay	HP:0001510
6697	SPR	Muscular hypotonia of the trunk	HP:0008936
6697	SPR	Spasticity	HP:0001257
6697	SPR	Transient hyperphenylalaninemia	HP:0008297
6697	SPR	Muscle weakness	HP:0001324
6697	SPR	Dysarthria	HP:0001260
6697	SPR	Small for gestational age	HP:0001518
6697	SPR	Abnormality of the nose	HP:0000366
6697	SPR	Delayed speech and language development	HP:0000750
6697	SPR	Global developmental delay	HP:0001263
6697	SPR	Hyperactivity	HP:0000752
6697	SPR	Choreoathetosis	HP:0001266
6697	SPR	Cerebral palsy	HP:0100021
6697	SPR	Variable expressivity	HP:0003828
6697	SPR	Dystonia	HP:0001332
6697	SPR	Motor delay	HP:0001270
6697	SPR	Sleep disturbance	HP:0002360
6697	SPR	Tremor	HP:0001337
6697	SPR	Oculogyric crisis	HP:0010553
6697	SPR	Ptosis	HP:0000508
6697	SPR	Microcephaly	HP:0000252
6697	SPR	Cognitive impairment	HP:0100543
55851	PSENEN	Perifolliculitis	HP:0012322
55851	PSENEN	Autosomal dominant inheritance	HP:0000006
55851	PSENEN	Recurrent cutaneous abscess formation	HP:0100838
55851	PSENEN	Acne inversa	HP:0040154
55851	PSENEN	Chronic furunculosis	HP:0011132
55851	PSENEN	Follicular hyperkeratosis	HP:0007502
121391	KRT74	Autosomal dominant inheritance	HP:0000006
121391	KRT74	Cataract	HP:0000518
121391	KRT74	Autosomal recessive inheritance	HP:0000007
121391	KRT74	Dystrophic fingernails	HP:0008391
121391	KRT74	Hair-nail ectodermal dysplasia	HP:0007436
121391	KRT74	Sparse eyelashes	HP:0000653
121391	KRT74	Onycholysis	HP:0001806
121391	KRT74	Dystrophic toenail	HP:0001810
121391	KRT74	Sparse and thin eyebrow	HP:0000535
121391	KRT74	Sparse lateral eyebrow	HP:0005338
121391	KRT74	Dry hair	HP:0011359
121391	KRT74	Hypopigmentation of hair	HP:0005599
121391	KRT74	Abnormal retinal morphology	HP:0000479
121391	KRT74	Coarse hair	HP:0002208
121391	KRT74	Sparse scalp hair	HP:0002209
121391	KRT74	Fine hair	HP:0002213
121391	KRT74	Strabismus	HP:0000486
121391	KRT74	Abnormal pupil morphology	HP:0000615
121391	KRT74	Slow-growing hair	HP:0002217
121391	KRT74	Hypotrichosis of the scalp	HP:0004782
121391	KRT74	Hypotrichosis	HP:0001006
121391	KRT74	Woolly hair	HP:0002224
121391	KRT74	Sparse body hair	HP:0002231
121391	KRT74	Brittle hair	HP:0002299
121391	KRT74	Alopecia	HP:0001596
23086	EXPH5	Hyperkeratosis	HP:0000962
23086	EXPH5	Epidermal acanthosis	HP:0025092
23086	EXPH5	Fragile skin	HP:0001030
23086	EXPH5	Autosomal recessive inheritance	HP:0000007
55857	KIZ	Abnormal electroretinogram	HP:0000512
55857	KIZ	Hyperreflexia	HP:0001347
55857	KIZ	Pigmentary retinopathy	HP:0000580
55857	KIZ	Cataract	HP:0000518
55857	KIZ	Autosomal recessive inheritance	HP:0000007
55857	KIZ	Hypogonadism	HP:0000135
55857	KIZ	Optic atrophy	HP:0000648
55857	KIZ	Hyperinsulinemia	HP:0000842
55857	KIZ	Anteverted nares	HP:0000463
55857	KIZ	Conductive hearing impairment	HP:0000405
55857	KIZ	Sensorineural hearing impairment	HP:0000407
55857	KIZ	Abnormality of retinal pigmentation	HP:0007703
55857	KIZ	Ophthalmoplegia	HP:0000602
55857	KIZ	Type II diabetes mellitus	HP:0005978
55857	KIZ	Atypical scarring of skin	HP:0000987
55857	KIZ	Hypoplasia of penis	HP:0008736
55857	KIZ	Intellectual disability	HP:0001249
55857	KIZ	Abnormal testis morphology	HP:0000035
55857	KIZ	Photophobia	HP:0000613
55857	KIZ	Undetectable electroretinogram	HP:0000550
55857	KIZ	Obesity	HP:0001513
55857	KIZ	Blindness	HP:0000618
55857	KIZ	Constriction of peripheral visual field	HP:0001133
55857	KIZ	Abnormal retinal vascular morphology	HP:0008046
55857	KIZ	Wide nasal bridge	HP:0000431
55857	KIZ	Keratoconus	HP:0000563
55857	KIZ	Glaucoma	HP:0000501
55857	KIZ	Progressive night blindness	HP:0007675
55857	KIZ	Rod-cone dystrophy	HP:0000510
55857	KIZ	Nystagmus	HP:0000639
23090	ZNF423	Biparietal narrowing	HP:0004422
23090	ZNF423	Autosomal dominant inheritance	HP:0000006
23090	ZNF423	Autosomal recessive inheritance	HP:0000007
23090	ZNF423	Hand polydactyly	HP:0001161
23090	ZNF423	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
23090	ZNF423	Aganglionic megacolon	HP:0002251
23090	ZNF423	Anteverted nares	HP:0000463
23090	ZNF423	Renal insufficiency	HP:0000083
23090	ZNF423	Long face	HP:0000276
23090	ZNF423	Abnormality of cardiovascular system morphology	HP:0030680
23090	ZNF423	Autistic behavior	HP:0000729
23090	ZNF423	Scoliosis	HP:0002650
23090	ZNF423	Nephronophthisis	HP:0000090
23090	ZNF423	Abnormality of neuronal migration	HP:0002269
23090	ZNF423	Abnormality of the hypothalamus-pituitary axis	HP:0000864
23090	ZNF423	Situs inversus totalis	HP:0001696
23090	ZNF423	Intellectual disability	HP:0001249
23090	ZNF423	Seizures	HP:0001250
23090	ZNF423	Retinal degeneration	HP:0000546
23090	ZNF423	Ataxia	HP:0001251
23090	ZNF423	Muscular hypotonia	HP:0001252
23090	ZNF423	Encephalocele	HP:0002084
23090	ZNF423	Iris coloboma	HP:0000612
23090	ZNF423	Tachypnea	HP:0002789
23090	ZNF423	Foot polydactyly	HP:0001829
23090	ZNF423	Strabismus	HP:0000486
23090	ZNF423	Cerebellar vermis hypoplasia	HP:0001320
23090	ZNF423	Blindness	HP:0000618
23090	ZNF423	Prominent nasal bridge	HP:0000426
23090	ZNF423	Retinal dystrophy	HP:0000556
23090	ZNF423	Hydrocephalus	HP:0000238
23090	ZNF423	Global developmental delay	HP:0001263
23090	ZNF423	Low-set, posteriorly rotated ears	HP:0000368
23090	ZNF423	Nephropathy	HP:0000112
23090	ZNF423	Polycystic kidney dysplasia	HP:0000113
23090	ZNF423	Molar tooth sign on MRI	HP:0002419
23090	ZNF423	Chorioretinal coloboma	HP:0000567
23090	ZNF423	Apnea	HP:0002104
23090	ZNF423	Highly arched eyebrow	HP:0002553
23090	ZNF423	Ptosis	HP:0000508
23090	ZNF423	Nystagmus	HP:0000639
55858	TMEM165	Hepatomegaly	HP:0002240
55858	TMEM165	Amelogenesis imperfecta	HP:0000705
55858	TMEM165	Abnormality of the cerebral white matter	HP:0002500
55858	TMEM165	Autosomal recessive inheritance	HP:0000007
55858	TMEM165	Generalized hypotonia	HP:0001290
55858	TMEM165	Malar flattening	HP:0000272
55858	TMEM165	Thrombocytopenia	HP:0001873
55858	TMEM165	Midface retrusion	HP:0011800
55858	TMEM165	Diaphyseal dysplasia	HP:0100252
55858	TMEM165	Metaphyseal dysplasia	HP:0100255
55858	TMEM165	Elevated hepatic transaminase	HP:0002910
55858	TMEM165	Epiphyseal dysplasia	HP:0002656
55858	TMEM165	Seizures	HP:0001250
55858	TMEM165	Short stature	HP:0004322
55858	TMEM165	Unexplained fevers	HP:0001955
55858	TMEM165	Failure to thrive	HP:0001508
55858	TMEM165	Elevated serum creatine kinase	HP:0003236
55858	TMEM165	Posteriorly rotated ears	HP:0000358
55858	TMEM165	Osteoporosis	HP:0000939
55858	TMEM165	Joint laxity	HP:0001388
55858	TMEM165	Postnatal microcephaly	HP:0005484
55858	TMEM165	Muscle weakness	HP:0001324
55858	TMEM165	Global developmental delay	HP:0001263
55858	TMEM165	Low-set ears	HP:0000369
55858	TMEM165	Kyphoscoliosis	HP:0002751
6708	SPTA1	Heterogeneous	HP:0001425
6708	SPTA1	Microspherocytosis	HP:0004835
6708	SPTA1	Hemolytic anemia	HP:0001878
6708	SPTA1	Autosomal dominant inheritance	HP:0000006
6708	SPTA1	Autosomal recessive inheritance	HP:0000007
6708	SPTA1	Pyropoikilocytosis	HP:0004839
6708	SPTA1	Spherocytosis	HP:0004444
6708	SPTA1	Elliptocytosis	HP:0004445
23092	ARHGAP26	Juvenile myelomonocytic leukemia	HP:0012209
23092	ARHGAP26	Somatic mutation	HP:0001428
23092	ARHGAP26	Autosomal dominant inheritance	HP:0000006
23093	TTLL5	Cone/cone-rod dystrophy	HP:0000548
23093	TTLL5	Photophobia	HP:0000613
23093	TTLL5	Nyctalopia	HP:0000662
23093	TTLL5	Autosomal recessive inheritance	HP:0000007
23093	TTLL5	Color vision defect	HP:0000551
23093	TTLL5	Abnormality of retinal pigmentation	HP:0007703
23093	TTLL5	Visual impairment	HP:0000505
23093	TTLL5	Retinal dystrophy	HP:0000556
6709	SPTAN1	Seizures	HP:0001250
6709	SPTAN1	Hyperreflexia	HP:0001347
6709	SPTAN1	CNS hypomyelination	HP:0003429
6709	SPTAN1	Epileptic encephalopathy	HP:0200134
6709	SPTAN1	Atrophy/Degeneration affecting the brainstem	HP:0007366
6709	SPTAN1	Autosomal dominant inheritance	HP:0000006
6709	SPTAN1	Developmental regression	HP:0002376
6709	SPTAN1	Infantile onset	HP:0003593
6709	SPTAN1	Generalized hypotonia	HP:0001290
6709	SPTAN1	Intellectual disability, profound	HP:0002187
6709	SPTAN1	Cerebral atrophy	HP:0002059
6709	SPTAN1	Spastic tetraplegia	HP:0002510
6709	SPTAN1	Intellectual disability, severe	HP:0010864
6709	SPTAN1	Abnormality of skin morphology	HP:0011121
6709	SPTAN1	Variable expressivity	HP:0003828
6709	SPTAN1	Infantile spasms	HP:0012469
6709	SPTAN1	Myoclonus	HP:0001336
6709	SPTAN1	Cerebellar atrophy	HP:0001272
6709	SPTAN1	Hypsarrhythmia	HP:0002521
6709	SPTAN1	Progressive microcephaly	HP:0000253
6709	SPTAN1	Hypoplasia of the corpus callosum	HP:0002079
23094	SIPA1L3	Autosomal recessive inheritance	HP:0000007
23094	SIPA1L3	Developmental cataract	HP:0000519
6710	SPTB	Splenomegaly	HP:0001744
6710	SPTB	Reticulocytosis	HP:0001923
6710	SPTB	Autosomal dominant inheritance	HP:0000006
6710	SPTB	Hemolytic anemia	HP:0001878
6710	SPTB	Jaundice	HP:0000952
6710	SPTB	Hyperbilirubinemia	HP:0002904
6710	SPTB	Spherocytosis	HP:0004444
23095	KIF1B	Hypercalcemia	HP:0003072
23095	KIF1B	Renal artery stenosis	HP:0001920
23095	KIF1B	Hemangioma	HP:0001028
23095	KIF1B	Areflexia	HP:0001284
23095	KIF1B	Autosomal dominant inheritance	HP:0000006
23095	KIF1B	Developmental cataract	HP:0000519
23095	KIF1B	Chest pain	HP:0100749
23095	KIF1B	Cranial nerve compression	HP:0001293
23095	KIF1B	Aniridia	HP:0000526
23095	KIF1B	Episodic abdominal pain	HP:0002574
23095	KIF1B	Elevated urinary norepinephrine	HP:0003345
23095	KIF1B	Heterogeneous	HP:0001425
23095	KIF1B	Conductive hearing impairment	HP:0000405
23095	KIF1B	Hematuria	HP:0000790
23095	KIF1B	Recurrent paroxysmal headache	HP:0002331
23095	KIF1B	Distal muscle weakness	HP:0002460
23095	KIF1B	Weight loss	HP:0001824
23095	KIF1B	Paroxysmal vertigo	HP:0010532
23095	KIF1B	Palpitations	HP:0001962
23095	KIF1B	Episodic hyperhidrosis	HP:0001069
23095	KIF1B	Steppage gait	HP:0003376
23095	KIF1B	Paraganglioma of head and neck	HP:0002864
23095	KIF1B	Axonal degeneration/regeneration	HP:0003378
23095	KIF1B	Decreased number of peripheral myelinated nerve fibers	HP:0003380
23095	KIF1B	Flushing	HP:0031284
23095	KIF1B	Panic attack	HP:0025269
23095	KIF1B	Pulsatile tinnitus	HP:0008629
23095	KIF1B	Onion bulb formation	HP:0003383
23095	KIF1B	Sinus tachycardia	HP:0011703
23095	KIF1B	Elevated urinary epinephrine	HP:0003639
23095	KIF1B	Peripheral axonal atrophy	HP:0003384
23095	KIF1B	Tremor	HP:0001337
23095	KIF1B	Cafe-au-lait spot	HP:0000957
23095	KIF1B	Cerebral hemorrhage	HP:0001342
23095	KIF1B	Arachnoid hemangiomatosis	HP:0012222
23095	KIF1B	Foot dorsiflexor weakness	HP:0009027
23095	KIF1B	Vocal cord paralysis	HP:0001605
23095	KIF1B	Hypertensive retinopathy	HP:0001095
23095	KIF1B	Elevated calcitonin	HP:0003528
23095	KIF1B	Elevated urinary dopamine	HP:0011979
23095	KIF1B	Hyperhidrosis	HP:0000975
23095	KIF1B	Renal cell carcinoma	HP:0005584
23095	KIF1B	Extraadrenal pheochromocytoma	HP:0006737
23095	KIF1B	Dysphonia	HP:0001618
23095	KIF1B	Pallor	HP:0000980
23095	KIF1B	Onset	HP:0003674
23095	KIF1B	Fatigue	HP:0012378
23095	KIF1B	Adrenal pheochromocytoma	HP:0006748
23095	KIF1B	Proteinuria	HP:0000093
23095	KIF1B	Slow progression	HP:0003677
23095	KIF1B	Glomerulosclerosis	HP:0000096
23095	KIF1B	Pes cavus	HP:0001761
23095	KIF1B	Nausea	HP:0002018
23095	KIF1B	Congestive heart failure	HP:0001635
23095	KIF1B	Episodic paroxysmal anxiety	HP:0000740
23095	KIF1B	Hammertoe	HP:0001765
23095	KIF1B	Peripheral neuropathy	HP:0009830
23095	KIF1B	Decreased motor nerve conduction velocity	HP:0003431
23095	KIF1B	Neoplasm	HP:0002664
23095	KIF1B	Pheochromocytoma	HP:0002666
23095	KIF1B	Limb muscle weakness	HP:0003690
23095	KIF1B	Episodic hypertension	HP:0000875
23095	KIF1B	Distal amyotrophy	HP:0003693
23095	KIF1B	Retinal capillary hemangioma	HP:0009711
23095	KIF1B	Tachycardia	HP:0001649
23095	KIF1B	Hyporeflexia	HP:0001265
23095	KIF1B	Positive regitine blocking test	HP:0003574
23095	KIF1B	Distal sensory impairment	HP:0002936
55863	TMEM126B	Failure to thrive	HP:0001508
55863	TMEM126B	Hyperalaninemia	HP:0003348
55863	TMEM126B	Hypertrophic cardiomyopathy	HP:0001639
55863	TMEM126B	Increased serum lactate	HP:0002151
55863	TMEM126B	Exercise intolerance	HP:0003546
55863	TMEM126B	Muscle weakness	HP:0001324
55863	TMEM126B	Easy fatigability	HP:0003388
55863	TMEM126B	Abnormal mitochondria in muscle tissue	HP:0008316
55863	TMEM126B	Myalgia	HP:0003326
23096	IQSEC2	Brachydactyly	HP:0001156
23096	IQSEC2	Chronic otitis media	HP:0000389
23096	IQSEC2	Gait disturbance	HP:0001288
23096	IQSEC2	Hand polydactyly	HP:0001161
23096	IQSEC2	Generalized hypotonia	HP:0001290
23096	IQSEC2	X-linked recessive inheritance	HP:0001419
23096	IQSEC2	EEG with centrotemporal focal spike waves	HP:0012557
23096	IQSEC2	X-linked dominant inheritance	HP:0001423
23096	IQSEC2	Conductive hearing impairment	HP:0000405
23096	IQSEC2	Decreased fetal movement	HP:0001558
23096	IQSEC2	Midface retrusion	HP:0011800
23096	IQSEC2	Synophrys	HP:0000664
23096	IQSEC2	Hypermetropia	HP:0000540
23096	IQSEC2	Hyperacusis	HP:0010780
23096	IQSEC2	Retinal detachment	HP:0000541
23096	IQSEC2	Impaired pain sensation	HP:0007328
23096	IQSEC2	Depressed nasal bridge	HP:0005280
23096	IQSEC2	Poor speech	HP:0002465
23096	IQSEC2	Myopia	HP:0000545
23096	IQSEC2	Taurodontia	HP:0000679
23096	IQSEC2	Feeding difficulties in infancy	HP:0008872
23096	IQSEC2	Delayed eruption of primary teeth	HP:0000680
23096	IQSEC2	Cleft palate	HP:0000175
23096	IQSEC2	Wide nasal bridge	HP:0000431
23096	IQSEC2	Mandibular prognathia	HP:0000303
23096	IQSEC2	EEG abnormality	HP:0002353
23096	IQSEC2	Hypercholesterolemia	HP:0003124
23096	IQSEC2	Tented upper lip vermilion	HP:0010804
23096	IQSEC2	Hypothyroidism	HP:0000821
23096	IQSEC2	Delayed puberty	HP:0000823
23096	IQSEC2	Sleep disturbance	HP:0002360
23096	IQSEC2	Precocious puberty	HP:0000826
23096	IQSEC2	Hypertelorism	HP:0000316
23096	IQSEC2	Abnormal localization of kidney	HP:0100542
23096	IQSEC2	Short philtrum	HP:0000322
23096	IQSEC2	Open mouth	HP:0000194
23096	IQSEC2	Abnormality of the ureter	HP:0000069
23096	IQSEC2	Upslanted palpebral fissure	HP:0000582
23096	IQSEC2	Ventriculomegaly	HP:0002119
23096	IQSEC2	Hoarse voice	HP:0001609
23096	IQSEC2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
23096	IQSEC2	Nasal speech	HP:0001611
23096	IQSEC2	Cleft upper lip	HP:0000204
23096	IQSEC2	Autism	HP:0000717
23096	IQSEC2	Anteverted nares	HP:0000463
23096	IQSEC2	Broad forehead	HP:0000337
23096	IQSEC2	Frontal bossing	HP:0002007
23096	IQSEC2	Abnormality of cardiovascular system morphology	HP:0030680
23096	IQSEC2	Scoliosis	HP:0002650
23096	IQSEC2	Micrognathia	HP:0000347
23096	IQSEC2	Stereotypy	HP:0000733
23096	IQSEC2	Intellectual disability	HP:0001249
23096	IQSEC2	Pes cavus	HP:0001761
23096	IQSEC2	Seizures	HP:0001250
23096	IQSEC2	Short stature	HP:0004322
23096	IQSEC2	Microcornea	HP:0000482
23096	IQSEC2	Anxiety	HP:0000739
23096	IQSEC2	Constipation	HP:0002019
23096	IQSEC2	Pes planus	HP:0001763
23096	IQSEC2	Muscular hypotonia	HP:0001252
23096	IQSEC2	Gastroesophageal reflux	HP:0002020
23096	IQSEC2	Strabismus	HP:0000486
23096	IQSEC2	Renal hypoplasia/aplasia	HP:0008678
23096	IQSEC2	Abnormal tracheobronchial morphology	HP:0005607
23096	IQSEC2	Corticospinal tract hypoplasia	HP:0007016
23096	IQSEC2	Obesity	HP:0001513
23096	IQSEC2	Toe syndactyly	HP:0001770
23096	IQSEC2	Attention deficit hyperactivity disorder	HP:0007018
23096	IQSEC2	Deeply set eye	HP:0000490
23096	IQSEC2	Joint stiffness	HP:0001387
23096	IQSEC2	Hypertriglyceridemia	HP:0002155
23096	IQSEC2	Postnatal microcephaly	HP:0005484
23096	IQSEC2	Self-injurious behavior	HP:0100716
23096	IQSEC2	Delayed speech and language development	HP:0000750
23096	IQSEC2	Global developmental delay	HP:0001263
23096	IQSEC2	Abnormal form of the vertebral bodies	HP:0003312
23096	IQSEC2	Clinodactyly of the 5th finger	HP:0004209
23096	IQSEC2	Hyporeflexia	HP:0001265
23096	IQSEC2	Neurological speech impairment	HP:0002167
23096	IQSEC2	Brachycephaly	HP:0000248
23096	IQSEC2	Large face	HP:0100729
23096	IQSEC2	Failure to thrive in infancy	HP:0001531
23096	IQSEC2	Microcephaly	HP:0000252
23096	IQSEC2	Short nose	HP:0003196
6712	SPTBN2	Gaze-evoked nystagmus	HP:0000640
6712	SPTBN2	Dysmetric saccades	HP:0000641
6712	SPTBN2	Hyperreflexia	HP:0001347
6712	SPTBN2	Jerky ocular pursuit movements	HP:0008003
6712	SPTBN2	Slurred speech	HP:0001350
6712	SPTBN2	Autosomal dominant inheritance	HP:0000006
6712	SPTBN2	Incoordination	HP:0002311
6712	SPTBN2	Autosomal recessive inheritance	HP:0000007
6712	SPTBN2	Progressive gait ataxia	HP:0007240
6712	SPTBN2	Gait disturbance	HP:0001288
6712	SPTBN2	Infantile onset	HP:0003593
6712	SPTBN2	Generalized hypotonia	HP:0001290
6712	SPTBN2	Diplopia	HP:0000651
6712	SPTBN2	Gait ataxia	HP:0002066
6712	SPTBN2	Limb ataxia	HP:0002070
6712	SPTBN2	Progressive cerebellar ataxia	HP:0002073
6712	SPTBN2	Horizontal nystagmus	HP:0000666
6712	SPTBN2	Onset	HP:0003674
6712	SPTBN2	Dysdiadochokinesis	HP:0002075
6712	SPTBN2	Impaired smooth pursuit	HP:0007772
6712	SPTBN2	Slow progression	HP:0003677
6712	SPTBN2	Truncal ataxia	HP:0002078
6712	SPTBN2	Dysmetria	HP:0001310
6712	SPTBN2	Intention tremor	HP:0002080
6712	SPTBN2	Strabismus	HP:0000486
6712	SPTBN2	Intellectual disability, mild	HP:0001256
6712	SPTBN2	Spasticity	HP:0001257
6712	SPTBN2	Dysarthria	HP:0001260
6712	SPTBN2	Delayed speech and language development	HP:0000750
6712	SPTBN2	Global developmental delay	HP:0001263
6712	SPTBN2	Cerebellar atrophy	HP:0001272
6712	SPTBN2	Hypometric saccades	HP:0000571
6712	SPTBN2	Facial myokymia	HP:0000317
6712	SPTBN2	Upper motor neuron dysfunction	HP:0002493
6712	SPTBN2	Cognitive impairment	HP:0100543
6712	SPTBN2	Impaired vibratory sensation	HP:0002495
6712	SPTBN2	Nystagmus	HP:0000639
6714	SRC	Neoplasm of the stomach	HP:0006753
6714	SRC	Autosomal dominant inheritance	HP:0000006
6714	SRC	Myelofibrosis	HP:0011974
6714	SRC	Deeply set eye	HP:0000490
6714	SRC	Uterine leiomyosarcoma	HP:0002891
6714	SRC	Osteoporosis	HP:0000939
6714	SRC	Bone marrow hypercellularity	HP:0031020
6714	SRC	Renal cell carcinoma	HP:0005584
6714	SRC	Thrombocytopenia	HP:0001873
6714	SRC	Large forehead	HP:0002003
6714	SRC	Somatic mutation	HP:0001428
6714	SRC	Transitional cell carcinoma of the bladder	HP:0006740
6714	SRC	Spontaneous, recurrent epistaxis	HP:0004406
6714	SRC	Hypotelorism	HP:0000601
6714	SRC	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
6716	SRD5A2	Hypoplasia of penis	HP:0008736
6716	SRD5A2	Ambiguous genitalia, male	HP:0000033
6716	SRD5A2	Autosomal recessive inheritance	HP:0000007
6716	SRD5A2	Abnormality of the voice	HP:0001608
6716	SRD5A2	Urogenital sinus anomaly	HP:0100779
6716	SRD5A2	Scrotal hypoplasia	HP:0000046
6716	SRD5A2	Bifid scrotum	HP:0000048
6716	SRD5A2	Decreased fertility	HP:0000144
6716	SRD5A2	Abnormality of the endocrine system	HP:0000818
6716	SRD5A2	Perineal hypospadias	HP:0000051
6716	SRD5A2	Abnormality of metabolism/homeostasis	HP:0001939
6716	SRD5A2	Micropenis	HP:0000054
6716	SRD5A2	Abnormal hair morphology	HP:0001595
6716	SRD5A2	Cryptorchidism	HP:0000028
55869	HDAC8	Multicystic kidney dysplasia	HP:0000003
55869	HDAC8	Gynecomastia	HP:0000771
55869	HDAC8	Cataract	HP:0000518
55869	HDAC8	Intestinal malrotation	HP:0002566
55869	HDAC8	Congenital diaphragmatic hernia	HP:0000776
55869	HDAC8	Generalized hypotonia	HP:0001290
55869	HDAC8	Hip dislocation	HP:0002827
55869	HDAC8	Long eyelashes	HP:0000527
55869	HDAC8	Primary amenorrhea	HP:0000786
55869	HDAC8	Volvulus	HP:0002580
55869	HDAC8	Prenatal movement abnormality	HP:0001557
55869	HDAC8	Retrognathia	HP:0000278
55869	HDAC8	Cryptorchidism	HP:0000028
55869	HDAC8	Decreased testicular size	HP:0008734
55869	HDAC8	Hypoplasia of penis	HP:0008736
55869	HDAC8	Myopia	HP:0000545
55869	HDAC8	Low anterior hairline	HP:0000294
55869	HDAC8	Hypogonadotrophic hypogonadism	HP:0000044
55869	HDAC8	Hypospadias	HP:0000047
55869	HDAC8	Specific learning disability	HP:0001328
55869	HDAC8	Short 1st metacarpal	HP:0010034
55869	HDAC8	Micropenis	HP:0000054
55869	HDAC8	Delayed puberty	HP:0000823
55869	HDAC8	Sleep disturbance	HP:0002360
55869	HDAC8	Hypoplastic labia majora	HP:0000059
55869	HDAC8	Abnormally low-pitched voice	HP:0010300
55869	HDAC8	Hypertelorism	HP:0000316
55869	HDAC8	Thick eyebrow	HP:0000574
55869	HDAC8	Ventriculomegaly	HP:0002119
55869	HDAC8	Cerebral cortical atrophy	HP:0002120
55869	HDAC8	Vesicoureteral reflux	HP:0000076
55869	HDAC8	Prominent supraorbital ridges	HP:0000336
55869	HDAC8	Renal insufficiency	HP:0000083
55869	HDAC8	Premature birth	HP:0001622
55869	HDAC8	Long philtrum	HP:0000343
55869	HDAC8	Micrognathia	HP:0000347
55869	HDAC8	Talipes	HP:0001883
55869	HDAC8	Ventricular septal defect	HP:0001629
55869	HDAC8	Atrial septal defect	HP:0001631
55869	HDAC8	Limited elbow extension	HP:0001377
55869	HDAC8	Peripheral neuropathy	HP:0009830
55869	HDAC8	Microtia	HP:0008551
55869	HDAC8	Hip dysplasia	HP:0001385
55869	HDAC8	Attention deficit hyperactivity disorder	HP:0007018
55869	HDAC8	Joint stiffness	HP:0001387
55869	HDAC8	Hearing impairment	HP:0000365
55869	HDAC8	Intellectual disability, severe	HP:0010864
55869	HDAC8	Low-set, posteriorly rotated ears	HP:0000368
55869	HDAC8	Clinodactyly of the 5th finger	HP:0004209
55869	HDAC8	Low posterior hairline	HP:0002162
55869	HDAC8	Small hand	HP:0200055
55869	HDAC8	Neurological speech impairment	HP:0002167
55869	HDAC8	Short nose	HP:0003196
55869	HDAC8	Malar prominence	HP:0010620
55869	HDAC8	Nystagmus	HP:0000639
55869	HDAC8	Increased nuchal translucency	HP:0010880
55869	HDAC8	Abnormality of the uterus	HP:0000130
55869	HDAC8	Oligodactyly	HP:0012165
55869	HDAC8	Hypogonadism	HP:0000135
55869	HDAC8	X-linked inheritance	HP:0001417
55869	HDAC8	X-linked dominant inheritance	HP:0001423
55869	HDAC8	Macrotia	HP:0000400
55869	HDAC8	Severe postnatal growth retardation	HP:0008850
55869	HDAC8	Happy demeanor	HP:0040082
55869	HDAC8	Conductive hearing impairment	HP:0000405
55869	HDAC8	Sensorineural hearing impairment	HP:0000407
55869	HDAC8	Proximal placement of thumb	HP:0009623
55869	HDAC8	Synophrys	HP:0000664
55869	HDAC8	Downturned corners of mouth	HP:0002714
55869	HDAC8	Phthisis bulbi	HP:0000667
55869	HDAC8	Atresia of the external auditory canal	HP:0000413
55869	HDAC8	Radioulnar synostosis	HP:0002974
55869	HDAC8	Tapered finger	HP:0001182
55869	HDAC8	Depressed nasal bridge	HP:0005280
55869	HDAC8	Poor speech	HP:0002465
55869	HDAC8	Truncal obesity	HP:0001956
55869	HDAC8	Micromelia	HP:0002983
55869	HDAC8	Feeding difficulties in infancy	HP:0008872
55869	HDAC8	Prominent nasal bridge	HP:0000426
55869	HDAC8	Delayed eruption of teeth	HP:0000684
55869	HDAC8	Bilateral single transverse palmar creases	HP:0007598
55869	HDAC8	Cleft palate	HP:0000175
55869	HDAC8	Widely spaced teeth	HP:0000687
55869	HDAC8	Nevus	HP:0003764
55869	HDAC8	Generalized hirsutism	HP:0002230
55869	HDAC8	Delayed skeletal maturation	HP:0002750
55869	HDAC8	Aplasia/Hypoplasia of the cerebellum	HP:0007360
55869	HDAC8	Postnatal growth retardation	HP:0008897
55869	HDAC8	Cutis marmorata	HP:0000965
55869	HDAC8	Choanal atresia	HP:0000453
55869	HDAC8	Broad nasal tip	HP:0000455
55869	HDAC8	Emotional lability	HP:0000712
55869	HDAC8	Autism	HP:0000717
55869	HDAC8	Anteverted nares	HP:0000463
55869	HDAC8	Abnormal facial shape	HP:0001999
55869	HDAC8	Obsessive-compulsive behavior	HP:0000722
55869	HDAC8	Short neck	HP:0000470
55869	HDAC8	High palate	HP:0000218
55869	HDAC8	Thin upper lip vermilion	HP:0000219
55869	HDAC8	Intellectual disability	HP:0001249
55869	HDAC8	Pes cavus	HP:0001761
55869	HDAC8	Elbow dislocation	HP:0003042
55869	HDAC8	Microcornea	HP:0000482
55869	HDAC8	Short stature	HP:0004322
55869	HDAC8	Seizures	HP:0001250
55869	HDAC8	Anxiety	HP:0000739
55869	HDAC8	Pes planus	HP:0001763
55869	HDAC8	Muscular hypotonia	HP:0001252
55869	HDAC8	Gastroesophageal reflux	HP:0002020
55869	HDAC8	Failure to thrive	HP:0001508
55869	HDAC8	Pyloric stenosis	HP:0002021
55869	HDAC8	Strabismus	HP:0000486
55869	HDAC8	Intrauterine growth retardation	HP:0001511
55869	HDAC8	Thin vermilion border	HP:0000233
55869	HDAC8	Toe syndactyly	HP:0001770
55869	HDAC8	Deeply set eye	HP:0000490
55869	HDAC8	Short foot	HP:0001773
55869	HDAC8	Global developmental delay	HP:0001263
55869	HDAC8	Hirsutism	HP:0001007
55869	HDAC8	Curly eyelashes	HP:0007665
55869	HDAC8	Blepharitis	HP:0000498
55869	HDAC8	Variable expressivity	HP:0003828
55869	HDAC8	Glaucoma	HP:0000501
55869	HDAC8	Brachycephaly	HP:0000248
55869	HDAC8	Highly arched eyebrow	HP:0002553
55869	HDAC8	Telecanthus	HP:0000506
55869	HDAC8	Hypertonia	HP:0001276
55869	HDAC8	Microcephaly	HP:0000252
55869	HDAC8	Ptosis	HP:0000508
55869	HDAC8	Hypoplastic nipples	HP:0002557
55869	HDAC8	Pectus excavatum	HP:0000767
6718	AKR1D1	Hepatomegaly	HP:0002240
6718	AKR1D1	Failure to thrive	HP:0001508
6718	AKR1D1	Abnormal bleeding	HP:0001892
6718	AKR1D1	Neonatal cholestatic liver disease	HP:0006566
6718	AKR1D1	Autosomal recessive inheritance	HP:0000007
6718	AKR1D1	Neonatal onset	HP:0003623
6718	AKR1D1	Malabsorption	HP:0002024
6718	AKR1D1	Steatorrhea	HP:0002570
6718	AKR1D1	Osteoporosis	HP:0000939
6718	AKR1D1	Splenomegaly	HP:0001744
6718	AKR1D1	Cirrhosis	HP:0001394
6718	AKR1D1	Elevated alkaline phosphatase	HP:0003155
6718	AKR1D1	Chronic hepatic failure	HP:0100626
6718	AKR1D1	Hepatic failure	HP:0001399
6718	AKR1D1	Abnormality of the coagulation cascade	HP:0003256
6718	AKR1D1	Jaundice	HP:0000952
6718	AKR1D1	Hyperbilirubinemia	HP:0002904
6718	AKR1D1	Biliary tract abnormality	HP:0001080
6718	AKR1D1	Intrahepatic cholestasis	HP:0001406
6718	AKR1D1	Elevated hepatic transaminase	HP:0002910
6718	AKR1D1	Diarrhea	HP:0002014
55870	ASH1L	Feeding difficulties	HP:0011968
55870	ASH1L	Hyperactivity	HP:0000752
55870	ASH1L	Absent speech	HP:0001344
55870	ASH1L	Intellectual disability	HP:0001249
55870	ASH1L	Seizures	HP:0001250
55870	ASH1L	Anxiety	HP:0000739
55870	ASH1L	Autosomal dominant inheritance	HP:0000006
55870	ASH1L	Autistic behavior	HP:0000729
55870	ASH1L	Infantile onset	HP:0003593
55870	ASH1L	Global developmental delay	HP:0001263
23111	SPART	Drooling	HP:0002307
23111	SPART	Clinodactyly	HP:0030084
23111	SPART	Brachydactyly	HP:0001156
23111	SPART	Hyperextensible hand joints	HP:0005639
23111	SPART	Autosomal recessive inheritance	HP:0000007
23111	SPART	Spastic paraparesis	HP:0002313
23111	SPART	Generalized hypotonia	HP:0001290
23111	SPART	Spastic gait	HP:0002064
23111	SPART	Abnormal thumb morphology	HP:0001172
23111	SPART	Upper limb muscle weakness	HP:0003484
23111	SPART	Epicanthus	HP:0000286
23111	SPART	Dysmetria	HP:0001310
23111	SPART	Babinski sign	HP:0003487
23111	SPART	Spastic dysarthria	HP:0002464
23111	SPART	Abnormal hand morphology	HP:0005922
23111	SPART	Abnormal cerebellum morphology	HP:0001317
23111	SPART	Dysuria	HP:0100518
23111	SPART	Abnormality of the nares	HP:0005288
23111	SPART	Genu valgum	HP:0002857
23111	SPART	Lower limb muscle weakness	HP:0007340
23111	SPART	Specific learning disability	HP:0001328
23111	SPART	Difficulty walking	HP:0002355
23111	SPART	Panic attack	HP:0025269
23111	SPART	Sleep disturbance	HP:0002360
23111	SPART	Ankle clonus	HP:0011448
23111	SPART	Knee clonus	HP:0011449
23111	SPART	Hypertelorism	HP:0000316
23111	SPART	Cognitive impairment	HP:0100543
23111	SPART	Impaired vibratory sensation	HP:0002495
23111	SPART	Kyphoscoliosis	HP:0002751
23111	SPART	Prominent nose	HP:0000448
23111	SPART	Hyperreflexia	HP:0001347
23111	SPART	Psychosis	HP:0000709
23111	SPART	Slurred speech	HP:0001350
23111	SPART	Childhood onset	HP:0011463
23111	SPART	Emotional lability	HP:0000712
23111	SPART	Hoarse voice	HP:0001609
23111	SPART	Upper limb spasticity	HP:0006986
23111	SPART	Hyperplasia of midface	HP:0012371
23111	SPART	Overbite	HP:0011094
23111	SPART	Speech apraxia	HP:0011098
23111	SPART	Flexion contracture	HP:0001371
23111	SPART	Dysphagia	HP:0002015
23111	SPART	Pes cavus	HP:0001761
23111	SPART	Camptodactyly	HP:0012385
23111	SPART	Short stature	HP:0004322
23111	SPART	Hallucinations	HP:0000738
23111	SPART	Constipation	HP:0002019
23111	SPART	Anxiety	HP:0000739
23111	SPART	Hammertoe	HP:0001765
23111	SPART	Joint hypermobility	HP:0001382
23111	SPART	Intellectual disability, mild	HP:0001256
23111	SPART	Spastic paraplegia	HP:0001258
23111	SPART	Dysarthria	HP:0001260
23111	SPART	Distal amyotrophy	HP:0003693
23111	SPART	Short foot	HP:0001773
23111	SPART	Delayed speech and language development	HP:0000750
23111	SPART	Downslanted palpebral fissures	HP:0000494
23111	SPART	Global developmental delay	HP:0001263
23111	SPART	Low-set ears	HP:0000369
23111	SPART	Motor delay	HP:0001270
23111	SPART	Cerebellar atrophy	HP:0001272
23111	SPART	Microcephaly	HP:0000252
23111	SPART	Hydronephrosis	HP:0000126
64072	CDH23	Abnormal electroretinogram	HP:0000512
64072	CDH23	Metrorrhagia	HP:0100608
64072	CDH23	Gynecomastia	HP:0000771
64072	CDH23	Cataract	HP:0000518
64072	CDH23	Thyroid crisis	HP:0011782
64072	CDH23	Internal ophthalmoplegia	HP:0007942
64072	CDH23	Autosomal recessive inheritance	HP:0000007
64072	CDH23	Decreased fertility in males	HP:0012041
64072	CDH23	Headache	HP:0002315
64072	CDH23	Generalized hyperpigmentation	HP:0007440
64072	CDH23	Vertigo	HP:0002321
64072	CDH23	Progressive visual loss	HP:0000529
64072	CDH23	Premature ovarian insufficiency	HP:0008209
64072	CDH23	Nephrolithiasis	HP:0000787
64072	CDH23	Infertility	HP:0000789
64072	CDH23	Male hypogonadism	HP:0000026
64072	CDH23	Adrenal hyperplasia	HP:0008221
64072	CDH23	Weight loss	HP:0001824
64072	CDH23	Impotence	HP:0000802
64072	CDH23	Acne	HP:0001061
64072	CDH23	Hypogonadotrophic hypogonadism	HP:0000044
64072	CDH23	Recurrent skin infections	HP:0001581
64072	CDH23	Secondary growth hormone deficiency	HP:0008240
64072	CDH23	Iris hypopigmentation	HP:0007730
64072	CDH23	High hypermetropia	HP:0008499
64072	CDH23	Diabetes mellitus	HP:0000819
64072	CDH23	Pituitary hypothyroidism	HP:0008245
64072	CDH23	Hypertension	HP:0000822
64072	CDH23	Hypotension	HP:0002615
64072	CDH23	Euthyroid hyperthyroxinemia	HP:0008247
64072	CDH23	Delayed puberty	HP:0000823
64072	CDH23	Round face	HP:0000311
64072	CDH23	Sleep disturbance	HP:0002360
64072	CDH23	Bitemporal hemianopia	HP:0030521
64072	CDH23	Tremor	HP:0001337
64072	CDH23	Visual loss	HP:0000572
64072	CDH23	Easy fatigability	HP:0003388
64072	CDH23	Scotoma	HP:0000575
64072	CDH23	Dyspareunia	HP:0030016
64072	CDH23	Decreased female libido	HP:0030018
64072	CDH23	Increased circulating gonadotropin level	HP:0000837
64072	CDH23	Cerebral cortical atrophy	HP:0002120
64072	CDH23	Venous thrombosis	HP:0004936
64072	CDH23	Growth hormone excess	HP:0000845
64072	CDH23	Pituitary adenoma	HP:0002893
64072	CDH23	Hypokalemia	HP:0002900
64072	CDH23	Goiter	HP:0000853
64072	CDH23	Hemianopia	HP:0012377
64072	CDH23	Fatigue	HP:0012378
64072	CDH23	Sudden loss of visual acuity	HP:0001117
64072	CDH23	Abnormality of hair density	HP:0011357
64072	CDH23	Congestive heart failure	HP:0001635
64072	CDH23	Fourth cranial nerve palsy	HP:0007011
64072	CDH23	Decreased fertility in females	HP:0000868
64072	CDH23	Prolactin excess	HP:0000870
64072	CDH23	Cardiomyopathy	HP:0001638
64072	CDH23	Decreased circulating ACTH level	HP:0002920
64072	CDH23	Blindness	HP:0000618
64072	CDH23	Increased thyroid-stimulating hormone level	HP:0002925
64072	CDH23	Hearing impairment	HP:0000365
64072	CDH23	Abnormal cochlea morphology	HP:0000375
64072	CDH23	Abnormal visual field test	HP:0030588
64072	CDH23	Subcortical cerebral atrophy	HP:0012157
64072	CDH23	Myopathy	HP:0003198
64072	CDH23	Menorrhagia	HP:0000132
64072	CDH23	Avascular necrosis	HP:0010885
64072	CDH23	Female hypogonadism	HP:0000134
64072	CDH23	Bipolar affective disorder	HP:0007302
64072	CDH23	Diplopia	HP:0000651
64072	CDH23	Abnormality of the menstrual cycle	HP:0000140
64072	CDH23	Amenorrhea	HP:0000141
64072	CDH23	Prelingual sensorineural hearing impairment	HP:0000399
64072	CDH23	Schizophrenia	HP:0100753
64072	CDH23	Nyctalopia	HP:0000662
64072	CDH23	Sensorineural hearing impairment	HP:0000407
64072	CDH23	Immunodeficiency	HP:0002721
64072	CDH23	Pericardial effusion	HP:0001698
64072	CDH23	Truncal obesity	HP:0001956
64072	CDH23	Lipodystrophy	HP:0009125
64072	CDH23	Abnormality of dental enamel	HP:0000682
64072	CDH23	Palpitations	HP:0001962
64072	CDH23	Osteopenia	HP:0000938
64072	CDH23	Osteoporosis	HP:0000939
64072	CDH23	Onychomycosis	HP:0012203
64072	CDH23	Generalized hirsutism	HP:0002230
64072	CDH23	Aplasia/Hypoplasia of the cerebellum	HP:0007360
64072	CDH23	Thin skin	HP:0000963
64072	CDH23	Psychosis	HP:0000709
64072	CDH23	Recurrent fractures	HP:0002757
64072	CDH23	Depressivity	HP:0000716
64072	CDH23	Hyperhidrosis	HP:0000975
64072	CDH23	Bruising susceptibility	HP:0000978
64072	CDH23	Pallor	HP:0000980
64072	CDH23	Ventricular arrhythmia	HP:0004308
64072	CDH23	Oculomotor nerve palsy	HP:0012246
64072	CDH23	Adrenocorticotropin deficient adrenal insufficiency	HP:0011735
64072	CDH23	Vestibular dysfunction	HP:0001751
64072	CDH23	Enlarged pituitary gland	HP:0012505
64072	CDH23	Periodic hypokalemic paresis	HP:0008153
64072	CDH23	Vestibular hypofunction	HP:0001756
64072	CDH23	Galactorrhea	HP:0100829
64072	CDH23	Vomiting	HP:0002013
64072	CDH23	Abnormality of the eye	HP:0000478
64072	CDH23	Intellectual disability	HP:0001249
64072	CDH23	Hallucinations	HP:0000738
64072	CDH23	Seizures	HP:0001250
64072	CDH23	Ataxia	HP:0001251
64072	CDH23	Anxiety	HP:0000739
64072	CDH23	Adrenocorticotropic hormone deficiency	HP:0011748
64072	CDH23	Failure to thrive	HP:0001508
64072	CDH23	Lethargy	HP:0001254
64072	CDH23	Telangiectasia of the skin	HP:0100585
64072	CDH23	Abdominal pain	HP:0002027
64072	CDH23	Global developmental delay	HP:0001263
64072	CDH23	Cranial nerve VI palsy	HP:0006897
64072	CDH23	Supraventricular arrhythmia	HP:0005115
64072	CDH23	Ptosis	HP:0000508
64072	CDH23	Rod-cone dystrophy	HP:0000510
6729	SRP54	Pectus carinatum	HP:0000768
6729	SRP54	Ichthyosis	HP:0008064
6729	SRP54	Persistence of hemoglobin F	HP:0011904
6729	SRP54	Narrow chest	HP:0000774
6729	SRP54	Autosomal recessive inheritance	HP:0000007
6729	SRP54	Gait disturbance	HP:0001288
6729	SRP54	Generalized hypotonia	HP:0001290
6729	SRP54	Steatorrhea	HP:0002570
6729	SRP54	Anterior rib cupping	HP:0000907
6729	SRP54	Bone marrow hypocellularity	HP:0005528
6729	SRP54	Enlargement of the costochondral junction	HP:0000920
6729	SRP54	Carious teeth	HP:0000670
6729	SRP54	Recurrent infections	HP:0002719
6729	SRP54	Myocardial necrosis	HP:0001700
6729	SRP54	Type I diabetes mellitus	HP:0100651
6729	SRP54	Osteopenia	HP:0000938
6729	SRP54	Myelodysplasia	HP:0002863
6729	SRP54	Abnormality of the metaphysis	HP:0000944
6729	SRP54	Specific learning disability	HP:0001328
6729	SRP54	Microdontia	HP:0000691
6729	SRP54	Proximal femoral epiphysiolysis	HP:0006461
6729	SRP54	Delayed skeletal maturation	HP:0002750
6729	SRP54	Hepatomegaly	HP:0002240
6729	SRP54	Short thorax	HP:0010306
6729	SRP54	Eczema	HP:0000964
6729	SRP54	Irregular ossification at anterior rib ends	HP:0006598
6729	SRP54	Acute myeloid leukemia	HP:0004808
6729	SRP54	Metaphyseal widening	HP:0003016
6729	SRP54	Exocrine pancreatic insufficiency	HP:0001738
6729	SRP54	Thrombocytopenia	HP:0001873
6729	SRP54	Neutropenia	HP:0001875
6729	SRP54	Proximal femoral metaphyseal irregularity	HP:0003411
6729	SRP54	Neonatal respiratory distress	HP:0002643
6729	SRP54	Pancytopenia	HP:0001876
6729	SRP54	Scoliosis	HP:0002650
6729	SRP54	Elevated hepatic transaminase	HP:0002910
6729	SRP54	Intellectual disability	HP:0001249
6729	SRP54	Short stature	HP:0004322
6729	SRP54	Recurrent aphthous stomatitis	HP:0011107
6729	SRP54	Narrow sacroiliac notch	HP:0008803
6729	SRP54	Failure to thrive	HP:0001508
6729	SRP54	Ovoid vertebral bodies	HP:0003300
6729	SRP54	Malabsorption	HP:0002024
6729	SRP54	Intellectual disability, mild	HP:0001256
6729	SRP54	Small for gestational age	HP:0001518
6729	SRP54	Anemia	HP:0001903
6729	SRP54	Global developmental delay	HP:0001263
6729	SRP54	Metaphyseal chondrodysplasia	HP:0005871
6729	SRP54	Metaphyseal sclerosis	HP:0004979
6729	SRP54	Nephrocalcinosis	HP:0000121
6729	SRP54	Aplastic anemia	HP:0001915
6729	SRP54	Coxa vara	HP:0002812
6731	SRP72	Autosomal dominant inheritance	HP:0000006
6731	SRP72	Bone marrow hypocellularity	HP:0005528
6731	SRP72	Aplastic anemia	HP:0001915
6731	SRP72	Hearing impairment	HP:0000365
6731	SRP72	Myelodysplasia	HP:0002863
23118	TAB2	Prominent nose	HP:0000448
23118	TAB2	Short philtrum	HP:0000322
23118	TAB2	Autosomal dominant inheritance	HP:0000006
23118	TAB2	Dolichocephaly	HP:0000268
23118	TAB2	Aortic aneurysm	HP:0004942
23118	TAB2	Broad forehead	HP:0000337
23118	TAB2	Subvalvular aortic stenosis	HP:0001682
23118	TAB2	Long face	HP:0000276
23118	TAB2	High palate	HP:0000218
23118	TAB2	Arrhythmia	HP:0011675
23118	TAB2	Micrognathia	HP:0000347
23118	TAB2	Myxomatous mitral valve degeneration	HP:0004764
23118	TAB2	Left ventricular outflow tract obstruction	HP:0032092
23118	TAB2	Ventricular septal defect	HP:0001629
23118	TAB2	Intellectual disability	HP:0001249
23118	TAB2	Mitral valve prolapse	HP:0001634
23118	TAB2	Short stature	HP:0004322
23118	TAB2	Sudden death	HP:0001699
23118	TAB2	Tetralogy of Fallot	HP:0001636
23118	TAB2	Dental crowding	HP:0000678
23118	TAB2	Pulmonic stenosis	HP:0001642
23118	TAB2	Bicuspid aortic valve	HP:0001647
23118	TAB2	Low-set ears	HP:0000369
23118	TAB2	Aortic valve stenosis	HP:0001650
23118	TAB2	Atrial fibrillation	HP:0005110
23118	TAB2	Abnormality of the skin	HP:0000951
23118	TAB2	Abnormality of the pinna	HP:0000377
23118	TAB2	Aortic regurgitation	HP:0001659
23118	TAB2	Ptosis	HP:0000508
23118	TAB2	Tricuspid regurgitation	HP:0005180
23118	TAB2	Joint hyperflexibility	HP:0005692
23118	TAB2	Delayed skeletal maturation	HP:0002750
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	Decreased testicular size	HP:0008734
6736	SRY	Testicular gonadoblastoma	HP:0000030
6736	SRY	Epicanthus	HP:0000286
6736	SRY	Hallux valgus	HP:0001822
6736	SRY	Hypoplasia of penis	HP:0008736
6736	SRY	Ambiguous genitalia, male	HP:0000033
6736	SRY	Male pseudohermaphroditism	HP:0000037
6736	SRY	Epispadias	HP:0000039
6736	SRY	Elevated circulating follicle stimulating hormone level	HP:0008232
6736	SRY	Penoscrotal hypospadias	HP:0000808
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	Developmental 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	Cervix cancer	HP:0030079
6736	SRY	Nystagmus	HP:0000639
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	Clitoral hypertrophy	HP:0008665
6736	SRY	Autistic behavior	HP:0000729
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
113235	SLC46A1	Athetosis	HP:0002305
113235	SLC46A1	Skeletal muscle atrophy	HP:0003202
113235	SLC46A1	Hyperreflexia	HP:0001347
113235	SLC46A1	Behavioral abnormality	HP:0000708
113235	SLC46A1	Autosomal recessive inheritance	HP:0000007
113235	SLC46A1	Infantile onset	HP:0003593
113235	SLC46A1	Recurrent urinary tract infections	HP:0000010
113235	SLC46A1	Generalized hypotonia	HP:0001290
113235	SLC46A1	Glossitis	HP:0000206
113235	SLC46A1	Thrombocytopenia	HP:0001873
113235	SLC46A1	Cerebral calcification	HP:0002514
113235	SLC46A1	Neutropenia	HP:0001875
113235	SLC46A1	Pallor	HP:0000980
113235	SLC46A1	Pancytopenia	HP:0001876
113235	SLC46A1	Basal ganglia calcification	HP:0002135
113235	SLC46A1	Cheilitis	HP:0100825
113235	SLC46A1	Eosinophilia	HP:0001880
113235	SLC46A1	Decreased antibody level in blood	HP:0004313
113235	SLC46A1	Leukopenia	HP:0001882
113235	SLC46A1	Oral ulcer	HP:0000155
113235	SLC46A1	Recurrent respiratory infections	HP:0002205
113235	SLC46A1	Diarrhea	HP:0002014
113235	SLC46A1	Recurrent infections	HP:0002719
113235	SLC46A1	Megaloblastic anemia	HP:0001889
113235	SLC46A1	Immunodeficiency	HP:0002721
113235	SLC46A1	Nausea and vomiting	HP:0002017
113235	SLC46A1	Intellectual disability	HP:0001249
113235	SLC46A1	Irritability	HP:0000737
113235	SLC46A1	Seizures	HP:0001250
113235	SLC46A1	Ataxia	HP:0001251
113235	SLC46A1	Gastroesophageal reflux	HP:0002020
113235	SLC46A1	Failure to thrive	HP:0001508
113235	SLC46A1	Muscular hypotonia	HP:0001252
113235	SLC46A1	Peripheral neuropathy	HP:0009830
113235	SLC46A1	Malabsorption	HP:0002024
113235	SLC46A1	Feeding difficulties in infancy	HP:0008872
113235	SLC46A1	Global developmental delay	HP:0001263
113235	SLC46A1	Folate-responsive megaloblastic anemia	HP:0004851
113235	SLC46A1	Dyskinesia	HP:0100660
113235	SLC46A1	Anorexia	HP:0002039
137814	NKX2-6	Postaxial polydactyly	HP:0100259
137814	NKX2-6	Underdeveloped supraorbital ridges	HP:0009891
137814	NKX2-6	Tetralogy of Fallot	HP:0001636
137814	NKX2-6	Brachydactyly	HP:0001156
137814	NKX2-6	Transposition of the great arteries	HP:0001669
137814	NKX2-6	Intrauterine growth retardation	HP:0001511
137814	NKX2-6	Autosomal recessive inheritance	HP:0000007
137814	NKX2-6	Broad hallux	HP:0010055
137814	NKX2-6	Proptosis	HP:0000520
137814	NKX2-6	Thin vermilion border	HP:0000233
137814	NKX2-6	Complete atrioventricular canal defect	HP:0001674
137814	NKX2-6	Dolichocephaly	HP:0000268
137814	NKX2-6	Coarctation of aorta	HP:0001680
137814	NKX2-6	Broad forehead	HP:0000337
137814	NKX2-6	Abnormal nasal morphology	HP:0005105
137814	NKX2-6	Clinodactyly of the 5th finger	HP:0004209
137814	NKX2-6	Preauricular pit	HP:0004467
137814	NKX2-6	Abnormality of metabolism/homeostasis	HP:0001939
137814	NKX2-6	Double outlet right ventricle	HP:0001719
137814	NKX2-6	Cryptorchidism	HP:0000028
137814	NKX2-6	Truncus arteriosus	HP:0001660
137814	NKX2-6	Hypertelorism	HP:0000316
23126	POGZ	Abnormal electroretinogram	HP:0000512
23126	POGZ	Feeding difficulties	HP:0011968
23126	POGZ	Short philtrum	HP:0000322
23126	POGZ	Open mouth	HP:0000194
23126	POGZ	Behavioral abnormality	HP:0000708
23126	POGZ	Brachydactyly	HP:0001156
23126	POGZ	Autosomal dominant inheritance	HP:0000006
23126	POGZ	Broad nasal tip	HP:0000455
23126	POGZ	Optic atrophy	HP:0000648
23126	POGZ	Abnormality of visual evoked potentials	HP:0000649
23126	POGZ	Generalized hypotonia	HP:0001290
23126	POGZ	Cerebral atrophy	HP:0002059
23126	POGZ	Short neck	HP:0000470
23126	POGZ	Midface retrusion	HP:0011800
23126	POGZ	Abnormality of cardiovascular system morphology	HP:0030680
23126	POGZ	High palate	HP:0000218
23126	POGZ	Downturned corners of mouth	HP:0002714
23126	POGZ	Hypermetropia	HP:0000540
23126	POGZ	Hypoplasia of the corpus callosum	HP:0002079
23126	POGZ	Depressed nasal bridge	HP:0005280
23126	POGZ	Myopia	HP:0000545
23126	POGZ	Cerebral visual impairment	HP:0100704
23126	POGZ	Intellectual disability	HP:0001249
23126	POGZ	Short stature	HP:0004322
23126	POGZ	Constipation	HP:0002019
23126	POGZ	Astigmatism	HP:0000483
23126	POGZ	Gastroesophageal reflux	HP:0002020
23126	POGZ	Iris coloboma	HP:0000612
23126	POGZ	Abnormality of the outer ear	HP:0000356
23126	POGZ	Posteriorly rotated ears	HP:0000358
23126	POGZ	Strabismus	HP:0000486
23126	POGZ	Facial hypotonia	HP:0000297
23126	POGZ	Bilateral sensorineural hearing impairment	HP:0008619
23126	POGZ	Joint laxity	HP:0001388
23126	POGZ	Self-injurious behavior	HP:0100716
23126	POGZ	Mandibular prognathia	HP:0000303
23126	POGZ	Global developmental delay	HP:0001263
23126	POGZ	Low-set ears	HP:0000369
23126	POGZ	Pointed chin	HP:0000307
23126	POGZ	Brachycephaly	HP:0000248
23126	POGZ	Microcephaly	HP:0000252
23126	POGZ	Hypoglycemic seizures	HP:0002173
23126	POGZ	Rod-cone dystrophy	HP:0000510
64087	MCCC2	Feeding difficulties	HP:0011968
64087	MCCC2	Skeletal muscle atrophy	HP:0003202
64087	MCCC2	Hyperammonemia	HP:0001987
64087	MCCC2	Hyperreflexia	HP:0001347
64087	MCCC2	Opisthotonus	HP:0002179
64087	MCCC2	Abnormal circulating leucine concentration	HP:0004357
64087	MCCC2	Autosomal recessive inheritance	HP:0000007
64087	MCCC2	Organic aciduria	HP:0001992
64087	MCCC2	Ketoacidosis	HP:0001993
64087	MCCC2	Generalized hypotonia	HP:0001290
64087	MCCC2	Psychomotor retardation	HP:0025356
64087	MCCC2	Heterogeneous	HP:0001425
64087	MCCC2	Metabolic acidosis	HP:0001942
64087	MCCC2	Hypoglycemia	HP:0001943
64087	MCCC2	Acute hyperammonemia	HP:0008281
64087	MCCC2	Propionyl-CoA carboxylase deficiency	HP:0003353
64087	MCCC2	Seborrheic dermatitis	HP:0001051
64087	MCCC2	Vomiting	HP:0002013
64087	MCCC2	Intellectual disability	HP:0001249
64087	MCCC2	Seizures	HP:0001250
64087	MCCC2	Muscular hypotonia	HP:0001252
64087	MCCC2	Failure to thrive	HP:0001508
64087	MCCC2	Hyperglycinuria	HP:0003108
64087	MCCC2	Lethargy	HP:0001254
64087	MCCC2	Ketonuria	HP:0002919
64087	MCCC2	Spasticity	HP:0001257
64087	MCCC2	Coma	HP:0001259
64087	MCCC2	Respiratory insufficiency	HP:0002093
64087	MCCC2	Global developmental delay	HP:0001263
64087	MCCC2	Abnormality of the cerebral vasculature	HP:0100659
64087	MCCC2	Abnormality of movement	HP:0100022
64087	MCCC2	Failure to thrive in infancy	HP:0001531
64087	MCCC2	Alopecia	HP:0001596
23129	PLXND1	Aplasia/Hypoplasia of the thumb	HP:0009601
23129	PLXND1	Skeletal muscle atrophy	HP:0003202
23129	PLXND1	Open mouth	HP:0000194
23129	PLXND1	Brachydactyly	HP:0001156
23129	PLXND1	Facial palsy	HP:0010628
23129	PLXND1	Abnormality of the voice	HP:0001608
23129	PLXND1	Reduced number of teeth	HP:0009804
23129	PLXND1	Multiple cafe-au-lait spots	HP:0007565
23129	PLXND1	Autism	HP:0000717
23129	PLXND1	Absent hand	HP:0004050
23129	PLXND1	Finger syndactyly	HP:0006101
23129	PLXND1	Corneal opacity	HP:0007957
23129	PLXND1	Aplasia of the pectoralis major muscle	HP:0009751
23129	PLXND1	Ophthalmoplegia	HP:0000602
23129	PLXND1	Aplasia/Hypoplasia involving the metacarpal bones	HP:0005914
23129	PLXND1	High palate	HP:0000218
23129	PLXND1	Micrognathia	HP:0000347
23129	PLXND1	Epicanthus	HP:0000286
23129	PLXND1	Dysphagia	HP:0002015
23129	PLXND1	Talipes equinovarus	HP:0001762
23129	PLXND1	Muscular hypotonia	HP:0001252
23129	PLXND1	Aplasia/Hypoplasia of the radius	HP:0006501
23129	PLXND1	Strabismus	HP:0000486
23129	PLXND1	Everted lower lip vermilion	HP:0000232
23129	PLXND1	Feeding difficulties in infancy	HP:0008872
23129	PLXND1	Mask-like facies	HP:0000298
23129	PLXND1	Hypogonadotrophic hypogonadism	HP:0000044
23129	PLXND1	Hearing impairment	HP:0000365
23129	PLXND1	Breast aplasia	HP:0100783
23129	PLXND1	Cleft palate	HP:0000175
23129	PLXND1	Clinodactyly of the 5th finger	HP:0004209
23129	PLXND1	Death in infancy	HP:0001522
23129	PLXND1	Blepharitis	HP:0000498
23129	PLXND1	Microdontia	HP:0000691
23129	PLXND1	Arthrogryposis multiplex congenita	HP:0002804
23129	PLXND1	Abnormality of the ulna	HP:0002997
23129	PLXND1	Motor delay	HP:0001270
23129	PLXND1	Aplasia/Hypoplasia of the tongue	HP:0010295
23129	PLXND1	Abnormality of the sense of smell	HP:0004408
23129	PLXND1	Visual impairment	HP:0000505
23129	PLXND1	Ptosis	HP:0000508
219736	STOX1	Polygenic inheritance	HP:0010982
219736	STOX1	Eclampsia	HP:0100601
219736	STOX1	Preeclampsia	HP:0100602
6748	SSR4	Feeding difficulties	HP:0011968
6748	SSR4	Clinodactyly	HP:0030084
6748	SSR4	Abnormality of coagulation	HP:0001928
6748	SSR4	Generalized hypotonia	HP:0001290
6748	SSR4	X-linked recessive inheritance	HP:0001419
6748	SSR4	Abnormality of upper lip vermillion	HP:0011339
6748	SSR4	Abnormal facial shape	HP:0001999
6748	SSR4	Macrotia	HP:0000400
6748	SSR4	Horseshoe kidney	HP:0000085
6748	SSR4	Abnormality of the periventricular white matter	HP:0002518
6748	SSR4	Scoliosis	HP:0002650
6748	SSR4	Wide mouth	HP:0000154
6748	SSR4	Micrognathia	HP:0000347
6748	SSR4	Joint dislocation	HP:0001373
6748	SSR4	Vomiting	HP:0002013
6748	SSR4	Hypoplasia of the corpus callosum	HP:0002079
6748	SSR4	Intellectual disability	HP:0001249
6748	SSR4	Seizures	HP:0001250
6748	SSR4	Failure to thrive	HP:0001508
6748	SSR4	Gastroesophageal reflux	HP:0002020
6748	SSR4	Strabismus	HP:0000486
6748	SSR4	Deeply set eye	HP:0000490
6748	SSR4	Patent ductus arteriosus	HP:0001643
6748	SSR4	Widely spaced teeth	HP:0000687
6748	SSR4	Hypospadias	HP:0000047
6748	SSR4	Global developmental delay	HP:0001263
6748	SSR4	Absent septum pellucidum	HP:0001331
6748	SSR4	Abnormality of the coagulation cascade	HP:0003256
6748	SSR4	Congenital onset	HP:0003577
6748	SSR4	Type I transferrin isoform profile	HP:0003642
6748	SSR4	Microcephaly	HP:0000252
23133	PHF8	Intellectual disability	HP:0001249
23133	PHF8	Pes planus	HP:0001763
23133	PHF8	Upslanted palpebral fissure	HP:0000582
23133	PHF8	Broad nasal tip	HP:0000455
23133	PHF8	Cleft lip	HP:0410030
23133	PHF8	Intellectual disability, mild	HP:0001256
23133	PHF8	X-linked recessive inheritance	HP:0001419
23133	PHF8	Nasal speech	HP:0001611
23133	PHF8	Cleft upper lip	HP:0000204
23133	PHF8	Delayed speech and language development	HP:0000750
23133	PHF8	Cleft palate	HP:0000175
23133	PHF8	Long toe	HP:0010511
23133	PHF8	Prominent supraorbital ridges	HP:0000336
23133	PHF8	Low posterior hairline	HP:0002162
23133	PHF8	Long face	HP:0000276
23133	PHF8	Sloping forehead	HP:0000340
23133	PHF8	Large hands	HP:0001176
23133	PHF8	Synophrys	HP:0000664
23133	PHF8	Preaxial hand polydactyly	HP:0001177
23133	PHF8	Scoliosis	HP:0002650
23133	PHF8	Cryptorchidism	HP:0000028
23133	PHF8	Thoracic kyphosis	HP:0002942
23133	PHF8	Decreased testicular size	HP:0008734
64093	SMOC1	Autosomal recessive inheritance	HP:0000007
64093	SMOC1	Optic atrophy	HP:0000648
64093	SMOC1	Postaxial hand polydactyly	HP:0001162
64093	SMOC1	Hip dislocation	HP:0002827
64093	SMOC1	Abnormality of the metacarpal bones	HP:0001163
64093	SMOC1	Anophthalmia	HP:0000528
64093	SMOC1	Large earlobe	HP:0009748
64093	SMOC1	Abnormal eyebrow morphology	HP:0000534
64093	SMOC1	Retrognathia	HP:0000278
64093	SMOC1	Hypoplasia of the premaxilla	HP:0010650
64093	SMOC1	Hand oligodactyly	HP:0001180
64093	SMOC1	Cryptorchidism	HP:0000028
64093	SMOC1	Depressed nasal bridge	HP:0005280
64093	SMOC1	Macrodontia	HP:0001572
64093	SMOC1	Tibial bowing	HP:0002982
64093	SMOC1	Postaxial foot polydactyly	HP:0001830
64093	SMOC1	Intellectual disability, moderate	HP:0002342
64093	SMOC1	Broad thumb	HP:0011304
64093	SMOC1	Venous insufficiency	HP:0005293
64093	SMOC1	Bilateral single transverse palmar creases	HP:0007598
64093	SMOC1	Cleft palate	HP:0000175
64093	SMOC1	Tarsal synostosis	HP:0008368
64093	SMOC1	Synostosis of carpal bones	HP:0005048
64093	SMOC1	Microphthalmia	HP:0000568
64093	SMOC1	Foot oligodactyly	HP:0001849
64093	SMOC1	Single transverse palmar crease	HP:0000954
64093	SMOC1	Abnormal hair morphology	HP:0001595
64093	SMOC1	Joint hyperflexibility	HP:0005692
64093	SMOC1	Sandal gap	HP:0001852
64093	SMOC1	Camptodactyly of 2nd-5th fingers	HP:0001215
64093	SMOC1	Postnatal growth retardation	HP:0008897
64093	SMOC1	Blepharophimosis	HP:0000581
64093	SMOC1	Flared nostrils	HP:0000454
64093	SMOC1	Hypoplasia of the maxilla	HP:0000327
64093	SMOC1	Short palpebral fissure	HP:0012745
64093	SMOC1	Cleft upper lip	HP:0000204
64093	SMOC1	Deep philtrum	HP:0002002
64093	SMOC1	Prominent forehead	HP:0011220
64093	SMOC1	Finger syndactyly	HP:0006101
64093	SMOC1	Horseshoe kidney	HP:0000085
64093	SMOC1	True anophthalmia	HP:0011478
64093	SMOC1	Long philtrum	HP:0000343
64093	SMOC1	Frontal bossing	HP:0002007
64093	SMOC1	High palate	HP:0000218
64093	SMOC1	Abnormality of the cardiovascular system	HP:0001626
64093	SMOC1	Micrognathia	HP:0000347
64093	SMOC1	Arrhinencephaly	HP:0002139
64093	SMOC1	Fibular hypoplasia	HP:0003038
64093	SMOC1	Intellectual disability	HP:0001249
64093	SMOC1	Short stature	HP:0004322
64093	SMOC1	Talipes equinovarus	HP:0001762
64093	SMOC1	Elbow dislocation	HP:0003042
64093	SMOC1	Failure to thrive	HP:0001508
64093	SMOC1	Posteriorly rotated ears	HP:0000358
64093	SMOC1	Growth delay	HP:0001510
64093	SMOC1	Short tibia	HP:0005736
64093	SMOC1	Thin vermilion border	HP:0000233
64093	SMOC1	Toe syndactyly	HP:0001770
64093	SMOC1	Fused fourth and fifth metacarpals	HP:0005867
64093	SMOC1	Hydrocephalus	HP:0000238
64093	SMOC1	Downslanted palpebral fissures	HP:0000494
64093	SMOC1	Intellectual disability, severe	HP:0010864
64093	SMOC1	Abnormal form of the vertebral bodies	HP:0003312
64093	SMOC1	Low-set, posteriorly rotated ears	HP:0000368
64093	SMOC1	Clinodactyly of the 5th finger	HP:0004209
64093	SMOC1	Low-set ears	HP:0000369
64093	SMOC1	Death in infancy	HP:0001522
64093	SMOC1	Short nose	HP:0003196
64094	SMOC2	Microdontia	HP:0000691
64094	SMOC2	Dentinogenesis imperfecta limited to primary teeth	HP:0011060
64094	SMOC2	Autosomal dominant inheritance	HP:0000006
64094	SMOC2	Taurodontia	HP:0000679
64094	SMOC2	Autosomal recessive inheritance	HP:0000007
64094	SMOC2	Periapical bone loss	HP:0000700
64094	SMOC2	Obliteration of the pulp chamber	HP:0006350
113246	C12ORF57	Macrocephaly	HP:0000256
113246	C12ORF57	Brachydactyly	HP:0001156
113246	C12ORF57	Facial asymmetry	HP:0000324
113246	C12ORF57	Autosomal recessive inheritance	HP:0000007
113246	C12ORF57	Ventriculomegaly	HP:0002119
113246	C12ORF57	Infantile onset	HP:0003593
113246	C12ORF57	Generalized hypotonia	HP:0001290
113246	C12ORF57	Lop ear	HP:0000394
113246	C12ORF57	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
113246	C12ORF57	Hip dislocation	HP:0002827
113246	C12ORF57	Dolichocephaly	HP:0000268
113246	C12ORF57	Aortic aneurysm	HP:0004942
113246	C12ORF57	Long face	HP:0000276
113246	C12ORF57	Long philtrum	HP:0000343
113246	C12ORF57	Frontal bossing	HP:0002007
113246	C12ORF57	Coarse facial features	HP:0000280
113246	C12ORF57	Genu varum	HP:0002970
113246	C12ORF57	Micrognathia	HP:0000347
113246	C12ORF57	Short 2nd toe	HP:0001885
113246	C12ORF57	Myopia	HP:0000545
113246	C12ORF57	Intellectual disability	HP:0001249
113246	C12ORF57	Talipes equinovarus	HP:0001762
113246	C12ORF57	Seizures	HP:0001250
113246	C12ORF57	Pes planus	HP:0001763
113246	C12ORF57	Iris coloboma	HP:0000612
113246	C12ORF57	Dental crowding	HP:0000678
113246	C12ORF57	Short toe	HP:0001831
113246	C12ORF57	Intellectual disability, mild	HP:0001256
113246	C12ORF57	Hypoplasia of teeth	HP:0000685
113246	C12ORF57	Downslanted palpebral fissures	HP:0000494
113246	C12ORF57	Abnormal palate morphology	HP:0000174
113246	C12ORF57	Global developmental delay	HP:0001263
113246	C12ORF57	Low-set ears	HP:0000369
113246	C12ORF57	Clinodactyly of the 5th finger	HP:0004209
113246	C12ORF57	Lens luxation	HP:0012019
113246	C12ORF57	Thick lower lip vermilion	HP:0000179
113246	C12ORF57	Chorioretinal coloboma	HP:0000567
113246	C12ORF57	Microphthalmia	HP:0000568
113246	C12ORF57	Highly arched eyebrow	HP:0002553
113246	C12ORF57	Agenesis of corpus callosum	HP:0001274
113246	C12ORF57	Telecanthus	HP:0000506
113246	C12ORF57	Aortic regurgitation	HP:0001659
113246	C12ORF57	Hypertelorism	HP:0000316
113246	C12ORF57	Convex nasal ridge	HP:0000444
113246	C12ORF57	Joint hyperflexibility	HP:0005692
342618	SLFN14	Thrombocytopenia	HP:0001873
342618	SLFN14	Bruising susceptibility	HP:0000978
342618	SLFN14	Menorrhagia	HP:0000132
342618	SLFN14	Epistaxis	HP:0000421
342618	SLFN14	Autosomal dominant inheritance	HP:0000006
55906	ZC4H2	Drooling	HP:0002307
55906	ZC4H2	Facial palsy	HP:0010628
55906	ZC4H2	Areflexia	HP:0001284
55906	ZC4H2	Narrow chest	HP:0000774
55906	ZC4H2	X-linked inheritance	HP:0001417
55906	ZC4H2	Generalized hypotonia	HP:0001290
55906	ZC4H2	Hip dislocation	HP:0002827
55906	ZC4H2	X-linked recessive inheritance	HP:0001419
55906	ZC4H2	Cerebral atrophy	HP:0002059
55906	ZC4H2	Palmar hyperkeratosis	HP:0010765
55906	ZC4H2	Oculomotor apraxia	HP:0000657
55906	ZC4H2	Retrognathia	HP:0000278
55906	ZC4H2	Decreased fetal movement	HP:0001558
55906	ZC4H2	Proximal placement of thumb	HP:0009623
55906	ZC4H2	Delayed myelination	HP:0012448
55906	ZC4H2	High anterior hairline	HP:0009890
55906	ZC4H2	Dystonia	HP:0001332
55906	ZC4H2	U-Shaped upper lip vermilion	HP:0010806
55906	ZC4H2	Abnormality of movement	HP:0100022
55906	ZC4H2	Apnea	HP:0002104
55906	ZC4H2	Broad alveolar ridges	HP:0000187
55906	ZC4H2	Smooth philtrum	HP:0000319
55906	ZC4H2	Feeding difficulties	HP:0011968
55906	ZC4H2	Exotropia	HP:0000577
55906	ZC4H2	Upslanted palpebral fissure	HP:0000582
55906	ZC4H2	Anteverted nares	HP:0000463
55906	ZC4H2	Neonatal respiratory distress	HP:0002643
55906	ZC4H2	Short neck	HP:0000470
55906	ZC4H2	Long philtrum	HP:0000343
55906	ZC4H2	Scoliosis	HP:0002650
55906	ZC4H2	High palate	HP:0000218
55906	ZC4H2	Micrognathia	HP:0000347
55906	ZC4H2	Limitation of joint mobility	HP:0001376
55906	ZC4H2	Camptodactyly	HP:0012385
55906	ZC4H2	Short stature	HP:0004322
55906	ZC4H2	Talipes equinovarus	HP:0001762
55906	ZC4H2	Seizures	HP:0001250
55906	ZC4H2	Strabismus	HP:0000486
55906	ZC4H2	Intellectual disability, mild	HP:0001256
55906	ZC4H2	Spasticity	HP:0001257
55906	ZC4H2	Hyperlordosis	HP:0003307
55906	ZC4H2	Distal amyotrophy	HP:0003693
55906	ZC4H2	Delayed speech and language development	HP:0000750
55906	ZC4H2	Global developmental delay	HP:0001263
55906	ZC4H2	Clinodactyly of the 5th finger	HP:0004209
55906	ZC4H2	Congenital foot contractures	HP:0005745
55906	ZC4H2	Low-set ears	HP:0000369
55906	ZC4H2	Arthrogryposis multiplex congenita	HP:0002804
55906	ZC4H2	Neurological speech impairment	HP:0002167
55906	ZC4H2	Kyphosis	HP:0002808
55906	ZC4H2	Congenital onset	HP:0003577
55906	ZC4H2	Ptosis	HP:0000508
55906	ZC4H2	Microcephaly	HP:0000252
6756	SSX1	Somatic mutation	HP:0001428
6756	SSX1	Synovial sarcoma	HP:0012570
6757	SSX2	Somatic mutation	HP:0001428
6757	SSX2	Synovial sarcoma	HP:0012570
23141	ANKLE2	Open mouth	HP:0000194
23141	ANKLE2	Hyperreflexia	HP:0001347
23141	ANKLE2	Upslanted palpebral fissure	HP:0000582
23141	ANKLE2	Ventriculomegaly	HP:0002119
23141	ANKLE2	Autosomal recessive inheritance	HP:0000007
23141	ANKLE2	Vesicoureteral reflux	HP:0000076
23141	ANKLE2	Spastic tetraplegia	HP:0002510
23141	ANKLE2	Sloping forehead	HP:0000340
23141	ANKLE2	Pachygyria	HP:0001302
23141	ANKLE2	Simplified gyral pattern	HP:0009879
23141	ANKLE2	Thin upper lip vermilion	HP:0000219
23141	ANKLE2	Micrognathia	HP:0000347
23141	ANKLE2	Cryptorchidism	HP:0000028
23141	ANKLE2	Adducted thumb	HP:0001181
23141	ANKLE2	Abnormal cortical bone morphology	HP:0003103
23141	ANKLE2	Short stature	HP:0004322
23141	ANKLE2	Seizures	HP:0001250
23141	ANKLE2	Hypoplasia of the frontal lobes	HP:0007333
23141	ANKLE2	Decreased body weight	HP:0004325
23141	ANKLE2	Gray matter heterotopia	HP:0002282
23141	ANKLE2	Knee flexion contracture	HP:0006380
23141	ANKLE2	Global developmental delay	HP:0001263
23141	ANKLE2	Intellectual disability, severe	HP:0010864
23141	ANKLE2	Glaucoma	HP:0000501
23141	ANKLE2	Unilateral renal agenesis	HP:0000122
23141	ANKLE2	Agenesis of corpus callosum	HP:0001274
23141	ANKLE2	Telecanthus	HP:0000506
23141	ANKLE2	Microcephaly	HP:0000252
23141	ANKLE2	Ptosis	HP:0000508
6768	ST14	Ichthyosis	HP:0008064
6768	ST14	Pili torti	HP:0003777
6768	ST14	Hyperkeratosis	HP:0000962
6768	ST14	Curly hair	HP:0002212
6768	ST14	Photophobia	HP:0000613
6768	ST14	Sparse hair	HP:0008070
6768	ST14	Hypohidrosis	HP:0000966
6768	ST14	Congenital ichthyosiform erythroderma	HP:0007431
6768	ST14	Autosomal recessive inheritance	HP:0000007
6768	ST14	Hypotrichosis	HP:0001006
6768	ST14	Blepharitis	HP:0000498
6768	ST14	Corneal opacity	HP:0007957
6768	ST14	Sparse and thin eyebrow	HP:0000535
6768	ST14	Brittle hair	HP:0002299
23152	CIC	Poor speech	HP:0002465
23152	CIC	Intellectual disability	HP:0001249
23152	CIC	Seizures	HP:0001250
23152	CIC	Variable expressivity	HP:0003828
23152	CIC	Autosomal dominant inheritance	HP:0000006
23152	CIC	Developmental regression	HP:0002376
23152	CIC	Attention deficit hyperactivity disorder	HP:0007018
23152	CIC	Global developmental delay	HP:0001263
6770	STAR	Congenital adrenal hyperplasia	HP:0008258
6770	STAR	Autosomal recessive inheritance	HP:0000007
6770	STAR	Adrenogenital syndrome	HP:0000840
6770	STAR	Renal salt wasting	HP:0000127
6770	STAR	Hypospadias	HP:0000047
162417	NAGS	Increased level of L-glutamic acid in blood	HP:0410068
162417	NAGS	Seizures	HP:0001250
162417	NAGS	Respiratory distress	HP:0002098
162417	NAGS	Hyperammonemia	HP:0001987
162417	NAGS	Failure to thrive	HP:0001508
162417	NAGS	Lethargy	HP:0001254
162417	NAGS	Autosomal recessive inheritance	HP:0000007
162417	NAGS	Confusion	HP:0001289
162417	NAGS	Coma	HP:0001259
162417	NAGS	Vomiting	HP:0002013
162417	NAGS	Cognitive impairment	HP:0100543
162417	NAGS	Aggressive behavior	HP:0000718
64116	SLC39A8	Seizures	HP:0001250
64116	SLC39A8	Short stature	HP:0004322
64116	SLC39A8	Astigmatism	HP:0000483
64116	SLC39A8	Joint hypermobility	HP:0001382
64116	SLC39A8	Strabismus	HP:0000486
64116	SLC39A8	Autosomal recessive inheritance	HP:0000007
64116	SLC39A8	Osteopenia	HP:0000938
64116	SLC39A8	Generalized hypotonia	HP:0001290
64116	SLC39A8	Intellectual disability, profound	HP:0002187
64116	SLC39A8	Cerebral atrophy	HP:0002059
64116	SLC39A8	Inability to walk	HP:0002540
64116	SLC39A8	Hearing impairment	HP:0000365
64116	SLC39A8	Global developmental delay	HP:0001263
64116	SLC39A8	Craniosynostosis	HP:0001363
64116	SLC39A8	Cerebellar atrophy	HP:0001272
64116	SLC39A8	Congenital onset	HP:0003577
64116	SLC39A8	Recurrent infections	HP:0002719
64116	SLC39A8	Nystagmus	HP:0000639
6772	STAT1	Renal artery stenosis	HP:0001920
6772	STAT1	Carotid artery dilatation	HP:0012163
6772	STAT1	Autosomal dominant inheritance	HP:0000006
6772	STAT1	Autosomal recessive inheritance	HP:0000007
6772	STAT1	Functional abnormality of the bladder	HP:0000009
6772	STAT1	Recurrent mycobacterial infections	HP:0011274
6772	STAT1	Herpes simplex encephalitis	HP:0012302
6772	STAT1	Immune dysregulation	HP:0002958
6772	STAT1	Abnormal serum interferon-gamma level	HP:0030355
6772	STAT1	Oropharyngeal squamous cell carcinoma	HP:0012182
6772	STAT1	Hepatosplenomegaly	HP:0001433
6772	STAT1	Antiphospholipid antibody positivity	HP:0003613
6772	STAT1	Recurrent respiratory infections	HP:0002205
6772	STAT1	Immunodeficiency	HP:0002721
6772	STAT1	Enterocolitis	HP:0004387
6772	STAT1	Recurrent Aspergillus infections	HP:0002724
6772	STAT1	Thyroiditis	HP:0100646
6772	STAT1	Chronic mucocutaneous candidiasis	HP:0002728
6772	STAT1	Type I diabetes mellitus	HP:0100651
6772	STAT1	Osteopenia	HP:0000938
6772	STAT1	Pulmonary arterial hypertension	HP:0002092
6772	STAT1	Diabetes mellitus	HP:0000819
6772	STAT1	Autoimmune thrombocytopenia	HP:0001973
6772	STAT1	Hypothyroidism	HP:0000821
6772	STAT1	Delayed puberty	HP:0000823
6772	STAT1	Delayed skeletal maturation	HP:0002750
6772	STAT1	Bronchiectasis	HP:0002110
6772	STAT1	Primary hypothyroidism	HP:0000832
6772	STAT1	Esophageal carcinoma	HP:0011459
6772	STAT1	Eczema	HP:0000964
6772	STAT1	Recurrent viral infections	HP:0004429
6772	STAT1	Encephalitis	HP:0002383
6772	STAT1	Dilatation of the cerebral artery	HP:0004944
6772	STAT1	Renovascular hypertension	HP:0100817
6772	STAT1	Villous atrophy	HP:0011473
6772	STAT1	Hepatitis	HP:0012115
6772	STAT1	Diarrhea	HP:0002014
6772	STAT1	B lymphocytopenia	HP:0010976
6772	STAT1	Generalized osteoporosis	HP:0040160
6772	STAT1	Lymphopenia	HP:0001888
6772	STAT1	Autoimmune hemolytic anemia	HP:0001890
6772	STAT1	Short stature	HP:0004322
6772	STAT1	Congestive heart failure	HP:0001635
6772	STAT1	Recurrent upper respiratory tract infections	HP:0002788
6772	STAT1	Medial calcification of large arteries	HP:0004966
6772	STAT1	Recurrent herpes	HP:0005353
6772	STAT1	Neutropenia in presence of anti-neutropil antibodies	HP:0001904
6772	STAT1	Incomplete penetrance	HP:0003829
6772	STAT1	Patent foramen ovale	HP:0001655
6773	STAT2	Encephalopathy	HP:0001298
6773	STAT2	Variable expressivity	HP:0003828
6773	STAT2	Autosomal recessive inheritance	HP:0000007
6774	STAT3	Reduced pancreatic beta cells	HP:0006274
6774	STAT3	Hyperglycemia	HP:0003074
6774	STAT3	Glycosuria	HP:0003076
6774	STAT3	Recurrent pneumonia	HP:0006532
6774	STAT3	Chronic otitis media	HP:0000389
6774	STAT3	Autosomal dominant inheritance	HP:0000006
6774	STAT3	Infantile onset	HP:0003593
6774	STAT3	Apraxia	HP:0002186
6774	STAT3	Increased circulating total IgE level	HP:0003212
6774	STAT3	Atelectasis	HP:0100750
6774	STAT3	Generalized tonic-clonic seizures	HP:0002069
6774	STAT3	Peripheral axonal neuropathy	HP:0003477
6774	STAT3	Dehydration	HP:0001944
6774	STAT3	Coarse facial features	HP:0000280
6774	STAT3	Recurrent fungal infections	HP:0002841
6774	STAT3	Fever	HP:0001945
6774	STAT3	Downturned corners of mouth	HP:0002714
6774	STAT3	Paronychia	HP:0001818
6774	STAT3	Recurrent respiratory infections	HP:0002205
6774	STAT3	Recurrent infections	HP:0002719
6774	STAT3	Erythema	HP:0010783
6774	STAT3	Weight loss	HP:0001824
6774	STAT3	Pancreatic hypoplasia	HP:0002594
6774	STAT3	Abnormality of the dentition	HP:0000164
6774	STAT3	Recurrent Staphylococcus aureus infections	HP:0002726
6774	STAT3	Chronic mucocutaneous candidiasis	HP:0002728
6774	STAT3	Osteopenia	HP:0000938
6774	STAT3	Delayed eruption of teeth	HP:0000684
6774	STAT3	Cleft palate	HP:0000175
6774	STAT3	Wide nasal bridge	HP:0000431
6774	STAT3	Celiac disease	HP:0002608
6774	STAT3	Recurrent sinopulmonary infections	HP:0005425
6774	STAT3	Microalbuminuria	HP:0012594
6774	STAT3	Diabetes mellitus	HP:0000819
6774	STAT3	Cellulitis	HP:0100658
6774	STAT3	Hypothyroidism	HP:0000821
6774	STAT3	Autoimmune thrombocytopenia	HP:0001973
6774	STAT3	Delayed puberty	HP:0000823
6774	STAT3	Dilatation	HP:0002617
6774	STAT3	Arnold-Chiari type I malformation	HP:0007099
6774	STAT3	Abnormal hair morphology	HP:0001595
6774	STAT3	Hypertelorism	HP:0000316
6774	STAT3	Joint hyperflexibility	HP:0005692
6774	STAT3	Wide nose	HP:0000445
6774	STAT3	Persistence of primary teeth	HP:0006335
6774	STAT3	Cough	HP:0012735
6774	STAT3	Osteomyelitis	HP:0002754
6774	STAT3	Eczema	HP:0000964
6774	STAT3	Recurrent fractures	HP:0002757
6774	STAT3	Dystrophic fingernails	HP:0008391
6774	STAT3	Generalized myoclonic seizures	HP:0002123
6774	STAT3	Bilateral ptosis	HP:0001488
6774	STAT3	Eczematoid dermatitis	HP:0000976
6774	STAT3	Craniosynostosis	HP:0001363
6774	STAT3	Prominent forehead	HP:0011220
6774	STAT3	Frontal bossing	HP:0002007
6774	STAT3	Eosinophilia	HP:0001880
6774	STAT3	Decreased antibody level in blood	HP:0004313
6774	STAT3	Arthritis	HP:0001369
6774	STAT3	Neonatal insulin-dependent diabetes mellitus	HP:0000857
6774	STAT3	Scoliosis	HP:0002650
6774	STAT3	High palate	HP:0000218
6774	STAT3	Generalized abnormality of skin	HP:0011354
6774	STAT3	Abnormal heart morphology	HP:0001627
6774	STAT3	Skin rash	HP:0000988
6774	STAT3	Pruritus	HP:0000989
6774	STAT3	Papule	HP:0200034
6774	STAT3	Autoimmune hemolytic anemia	HP:0001890
6774	STAT3	Short stature	HP:0004322
6774	STAT3	Hypovolemia	HP:0011106
6774	STAT3	Ataxia	HP:0001251
6774	STAT3	Failure to thrive	HP:0001508
6774	STAT3	Muscular hypotonia	HP:0001252
6774	STAT3	Joint hypermobility	HP:0001382
6774	STAT3	Skin vesicle	HP:0200037
6774	STAT3	Gingivitis	HP:0000230
6774	STAT3	Ketonuria	HP:0002919
6774	STAT3	Intrauterine growth retardation	HP:0001511
6774	STAT3	Retinopathy	HP:0000488
6774	STAT3	Lymphoma	HP:0002665
6774	STAT3	Skin ulcer	HP:0200042
6774	STAT3	Deeply set eye	HP:0000490
6774	STAT3	Coma	HP:0001259
6774	STAT3	Hearing impairment	HP:0000365
6774	STAT3	Global developmental delay	HP:0001263
6774	STAT3	Prominent metopic ridge	HP:0005487
6774	STAT3	Intellectual disability, severe	HP:0010864
6774	STAT3	Interstitial pneumonitis	HP:0006515
6774	STAT3	Arthrogryposis multiplex congenita	HP:0002804
6774	STAT3	Contractures of the joints of the lower limbs	HP:0005750
6774	STAT3	Motor delay	HP:0001270
6774	STAT3	Renal tubular dysfunction	HP:0000124
727676	SNORD118	Seizures	HP:0001250
727676	SNORD118	Ataxia	HP:0001251
727676	SNORD118	Autosomal recessive inheritance	HP:0000007
727676	SNORD118	Gait disturbance	HP:0001288
727676	SNORD118	Spasticity	HP:0001257
727676	SNORD118	Dysarthria	HP:0001260
727676	SNORD118	Leukodystrophy	HP:0002415
727676	SNORD118	Global developmental delay	HP:0001263
727676	SNORD118	Leukoencephalopathy	HP:0002352
727676	SNORD118	Cerebral calcification	HP:0002514
727676	SNORD118	Variable expressivity	HP:0003828
727676	SNORD118	Dystonia	HP:0001332
727676	SNORD118	Mental deterioration	HP:0001268
727676	SNORD118	Abnormality of extrapyramidal motor function	HP:0002071
727676	SNORD118	Abnormal pyramidal sign	HP:0007256
727676	SNORD118	Tremor	HP:0001337
727676	SNORD118	Progressive	HP:0003676
727676	SNORD118	Hemiplegia	HP:0002301
6775	STAT4	Abnormal blistering of the skin	HP:0008066
6775	STAT4	Polyarticular arthritis	HP:0005764
6775	STAT4	Avascular necrosis	HP:0010885
6775	STAT4	Cataract	HP:0000518
6775	STAT4	Myositis	HP:0100614
6775	STAT4	Meningitis	HP:0001287
6775	STAT4	Gait disturbance	HP:0001288
6775	STAT4	Confusion	HP:0001289
6775	STAT4	Apraxia	HP:0002186
6775	STAT4	Arthralgia	HP:0002829
6775	STAT4	Vertigo	HP:0002321
6775	STAT4	Gangrene	HP:0100758
6775	STAT4	Fever	HP:0001945
6775	STAT4	Pleural effusion	HP:0002202
6775	STAT4	Oral ulcer	HP:0000155
6775	STAT4	Lymphadenopathy	HP:0002716
6775	STAT4	Pulmonary embolism	HP:0002204
6775	STAT4	Migraine	HP:0002076
6775	STAT4	Weight loss	HP:0001824
6775	STAT4	Antinuclear antibody positivity	HP:0003493
6775	STAT4	Acne	HP:0001061
6775	STAT4	Pericarditis	HP:0001701
6775	STAT4	Cranial nerve paralysis	HP:0006824
6775	STAT4	Retrobulbar optic neuritis	HP:0100654
6775	STAT4	Juvenile rheumatoid arthritis	HP:0005681
6775	STAT4	Dental malocclusion	HP:0000689
6775	STAT4	Memory impairment	HP:0002354
6775	STAT4	Pleuritis	HP:0002102
6775	STAT4	Hemoptysis	HP:0002105
6775	STAT4	Orchitis	HP:0100796
6775	STAT4	Gastrointestinal hemorrhage	HP:0002239
6775	STAT4	Pulmonary infiltrates	HP:0002113
6775	STAT4	Hyperreflexia	HP:0001347
6775	STAT4	Arterial thrombosis	HP:0004420
6775	STAT4	Pancreatitis	HP:0001733
6775	STAT4	Iridocyclitis	HP:0001094
6775	STAT4	Venous thrombosis	HP:0004936
6775	STAT4	Developmental regression	HP:0002376
6775	STAT4	Vasculitis	HP:0002633
6775	STAT4	Paresthesia	HP:0003401
6775	STAT4	Keratoconjunctivitis sicca	HP:0001097
6775	STAT4	Subcutaneous nodule	HP:0001482
6775	STAT4	Cerebral ischemia	HP:0002637
6775	STAT4	Encephalitis	HP:0002383
6775	STAT4	Splenomegaly	HP:0001744
6775	STAT4	Renal insufficiency	HP:0000083
6775	STAT4	Increased intracranial pressure	HP:0002516
6775	STAT4	Glomerulopathy	HP:0100820
6775	STAT4	Abnormal pyramidal sign	HP:0007256
6775	STAT4	Arthritis	HP:0001369
6775	STAT4	Fatigue	HP:0012378
6775	STAT4	Elevated C-reactive protein level	HP:0011227
6775	STAT4	Joint dislocation	HP:0001373
6775	STAT4	Limitation of joint mobility	HP:0001376
6775	STAT4	Irritability	HP:0000737
6775	STAT4	Nausea and vomiting	HP:0002017
6775	STAT4	Papule	HP:0200034
6775	STAT4	Seizures	HP:0001250
6775	STAT4	Recurrent aphthous stomatitis	HP:0011107
6775	STAT4	Ataxia	HP:0001251
6775	STAT4	Abnormal myocardium morphology	HP:0001637
6775	STAT4	Photophobia	HP:0000613
6775	STAT4	Immunologic hypersensitivity	HP:0100326
6775	STAT4	Malabsorption	HP:0002024
6775	STAT4	Retinopathy	HP:0000488
6775	STAT4	Endocarditis	HP:0100584
6775	STAT4	Joint swelling	HP:0001386
6775	STAT4	Blindness	HP:0000618
6775	STAT4	Abdominal pain	HP:0002027
6775	STAT4	Elevated erythrocyte sedimentation rate	HP:0003565
6775	STAT4	Mitral regurgitation	HP:0001653
6775	STAT4	Hemiparesis	HP:0001269
6775	STAT4	Anorexia	HP:0002039
6775	STAT4	Myocardial infarction	HP:0001658
6775	STAT4	Aortic regurgitation	HP:0001659
6775	STAT4	Myalgia	HP:0003326
6777	STAT5B	Respiratory distress	HP:0002098
6777	STAT5B	Severe short stature	HP:0003510
6777	STAT5B	Growth hormone deficiency	HP:0000824
23165	NUP205	Focal segmental glomerulosclerosis	HP:0000097
23165	NUP205	Autosomal recessive inheritance	HP:0000007
23165	NUP205	Steroid-resistant nephrotic syndrome	HP:0012588
23165	NUP205	Stage 5 chronic kidney disease	HP:0003774
113278	SLC52A3	Skeletal muscle atrophy	HP:0003202
113278	SLC52A3	Bulbar palsy	HP:0001283
113278	SLC52A3	Gynecomastia	HP:0000771
113278	SLC52A3	Facial palsy	HP:0010628
113278	SLC52A3	Autosomal recessive inheritance	HP:0000007
113278	SLC52A3	Hypogonadism	HP:0000135
113278	SLC52A3	Clumsiness	HP:0002312
113278	SLC52A3	Myopathic facies	HP:0002058
113278	SLC52A3	Sensorineural hearing impairment	HP:0000407
113278	SLC52A3	Diaphragmatic weakness	HP:0009113
113278	SLC52A3	Tongue fasciculations	HP:0001308
113278	SLC52A3	Recurrent respiratory infections	HP:0002205
113278	SLC52A3	Optic disc pallor	HP:0000543
113278	SLC52A3	External ophthalmoplegia	HP:0000544
113278	SLC52A3	Juvenile onset	HP:0003621
113278	SLC52A3	Abnormal cerebellum morphology	HP:0001317
113278	SLC52A3	Sleep apnea	HP:0010535
113278	SLC52A3	Color vision defect	HP:0000551
113278	SLC52A3	Hand muscle atrophy	HP:0009130
113278	SLC52A3	Abnormal autonomic nervous system physiology	HP:0012332
113278	SLC52A3	Respiratory insufficiency	HP:0002093
113278	SLC52A3	Iris hypopigmentation	HP:0007730
113278	SLC52A3	Respiratory distress	HP:0002098
113278	SLC52A3	Hypertension	HP:0000822
113278	SLC52A3	Myoclonus	HP:0001336
113278	SLC52A3	Ankle clonus	HP:0011448
113278	SLC52A3	Tremor	HP:0001337
113278	SLC52A3	Tongue atrophy	HP:0012473
113278	SLC52A3	Knee clonus	HP:0011449
113278	SLC52A3	Cranial nerve motor loss	HP:0007097
113278	SLC52A3	Nocturnal hypoventilation	HP:0002877
113278	SLC52A3	Progressive inspiratory stridor	HP:0005951
113278	SLC52A3	Progressive hearing impairment	HP:0001730
113278	SLC52A3	Abnormality of macular pigmentation	HP:0008002
113278	SLC52A3	Stridor	HP:0010307
113278	SLC52A3	Facial diplegia	HP:0001349
113278	SLC52A3	Vocal cord paralysis	HP:0001605
113278	SLC52A3	Cerebral cortical atrophy	HP:0002120
113278	SLC52A3	Aggressive behavior	HP:0000718
113278	SLC52A3	Neck muscle weakness	HP:0000467
113278	SLC52A3	Weak voice	HP:0001621
113278	SLC52A3	Scoliosis	HP:0002650
113278	SLC52A3	Progressive	HP:0003676
113278	SLC52A3	Dysphagia	HP:0002015
113278	SLC52A3	Intellectual disability	HP:0001249
113278	SLC52A3	Hallucinations	HP:0000738
113278	SLC52A3	Seizures	HP:0001250
113278	SLC52A3	Ataxia	HP:0001251
113278	SLC52A3	Muscular hypotonia	HP:0001252
113278	SLC52A3	Cachexia	HP:0004326
113278	SLC52A3	Peripheral neuropathy	HP:0009830
113278	SLC52A3	Diabetes insipidus	HP:0000873
113278	SLC52A3	Limb muscle weakness	HP:0003690
113278	SLC52A3	Dysarthria	HP:0001260
113278	SLC52A3	Abnormality of eye movement	HP:0000496
113278	SLC52A3	Hyporeflexia	HP:0001265
113278	SLC52A3	Proximal muscle weakness	HP:0003701
113278	SLC52A3	Kyphosis	HP:0002808
113278	SLC52A3	Visual impairment	HP:0000505
113278	SLC52A3	Generalized hyperreflexia	HP:0007034
113278	SLC52A3	Ptosis	HP:0000508
64127	NOD2	Ichthyosis	HP:0008064
64127	NOD2	Facial palsy	HP:0010628
64127	NOD2	Polyarticular arthritis	HP:0005764
64127	NOD2	Nongranulomatous uveitis	HP:0007813
64127	NOD2	Cataract	HP:0000518
64127	NOD2	Autosomal dominant inheritance	HP:0000006
64127	NOD2	Intermittent generalized erythematous papular rash	HP:0007432
64127	NOD2	Camptodactyly of finger	HP:0100490
64127	NOD2	Abnormal cranial nerve morphology	HP:0001291
64127	NOD2	Arthralgia	HP:0002829
64127	NOD2	Tendonitis	HP:0025230
64127	NOD2	Fever	HP:0001945
64127	NOD2	Lymphadenopathy	HP:0002716
64127	NOD2	Erythema	HP:0010783
64127	NOD2	Synovitis	HP:0100769
64127	NOD2	Pericarditis	HP:0001701
64127	NOD2	Uveitis	HP:0000554
64127	NOD2	Pulmonary arterial hypertension	HP:0002092
64127	NOD2	Dyspnea	HP:0002094
64127	NOD2	Abnormal salivary gland morphology	HP:0010286
64127	NOD2	Retrobulbar optic neuritis	HP:0100654
64127	NOD2	Hypertension	HP:0000822
64127	NOD2	Hyperpigmentation of the skin	HP:0000953
64127	NOD2	Erythema nodosum	HP:0012219
64127	NOD2	Visual loss	HP:0000572
64127	NOD2	Large vessel vasculitis	HP:0005310
64127	NOD2	Stage 5 chronic kidney disease	HP:0003774
64127	NOD2	Dry skin	HP:0000958
64127	NOD2	Eczema	HP:0000964
64127	NOD2	Iridocyclitis	HP:0001094
64127	NOD2	Flexion contracture of toe	HP:0005830
64127	NOD2	Band keratopathy	HP:0000585
64127	NOD2	Iritis	HP:0001101
64127	NOD2	Aortic aneurysm	HP:0004942
64127	NOD2	Splenomegaly	HP:0001744
64127	NOD2	Abnormality of the ear	HP:0000598
64127	NOD2	Xerostomia	HP:0000217
64127	NOD2	Arthritis	HP:0001369
64127	NOD2	Posterior uveitis	HP:0012123
64127	NOD2	Skin rash	HP:0000988
64127	NOD2	Limitation of joint mobility	HP:0001376
64127	NOD2	Papule	HP:0200034
64127	NOD2	Abnormal choroid morphology	HP:0000610
64127	NOD2	Photophobia	HP:0000613
64127	NOD2	Retinopathy	HP:0000488
64127	NOD2	Skin ulcer	HP:0200042
64127	NOD2	Joint swelling	HP:0001386
64127	NOD2	Keratitis	HP:0000491
64127	NOD2	Abnormal retinal vascular morphology	HP:0008046
64127	NOD2	Anemia	HP:0001903
64127	NOD2	Abnormality of the liver	HP:0001392
64127	NOD2	Nephropathy	HP:0000112
64127	NOD2	Cystoid macular edema	HP:0011505
64127	NOD2	Clear cell renal cell carcinoma	HP:0006770
64127	NOD2	Glaucoma	HP:0000501
6785	ELOVL4	Ichthyosis	HP:0008064
6785	ELOVL4	Urticaria	HP:0001025
6785	ELOVL4	Retinal pigment epithelial mottling	HP:0007814
6785	ELOVL4	Autosomal dominant inheritance	HP:0000006
6785	ELOVL4	Autosomal recessive inheritance	HP:0000007
6785	ELOVL4	Gait disturbance	HP:0001288
6785	ELOVL4	Abnormality of visual evoked potentials	HP:0000649
6785	ELOVL4	Intellectual disability, profound	HP:0002187
6785	ELOVL4	Gait ataxia	HP:0002066
6785	ELOVL4	Peripheral axonal neuropathy	HP:0003477
6785	ELOVL4	Nyctalopia	HP:0000662
6785	ELOVL4	Limb ataxia	HP:0002070
6785	ELOVL4	Inguinal hernia	HP:0000023
6785	ELOVL4	Paroxysmal involuntary eye movements	HP:0007704
6785	ELOVL4	Progressive cerebellar ataxia	HP:0002073
6785	ELOVL4	Dysdiadochokinesis	HP:0002075
6785	ELOVL4	Brain atrophy	HP:0012444
6785	ELOVL4	Erythema	HP:0010783
6785	ELOVL4	Delayed myelination	HP:0012448
6785	ELOVL4	Intention tremor	HP:0002080
6785	ELOVL4	Yellow/white lesions of the macula	HP:0030500
6785	ELOVL4	Color vision defect	HP:0000551
6785	ELOVL4	Retinal pigment epithelial atrophy	HP:0007722
6785	ELOVL4	Asthma	HP:0002099
6785	ELOVL4	Abnormality of the skin	HP:0000951
6785	ELOVL4	Macule	HP:0012733
6785	ELOVL4	Dry skin	HP:0000958
6785	ELOVL4	Abnormality of macular pigmentation	HP:0008002
6785	ELOVL4	Hyperkeratosis	HP:0000962
6785	ELOVL4	Hyperreflexia	HP:0001347
6785	ELOVL4	Abnormality of the musculature	HP:0003011
6785	ELOVL4	Facial asymmetry	HP:0000324
6785	ELOVL4	Hypohidrosis	HP:0000966
6785	ELOVL4	Macular dystrophy	HP:0007754
6785	ELOVL4	Generalized myoclonic seizures	HP:0002123
6785	ELOVL4	Fasciculations	HP:0002380
6785	ELOVL4	Spastic tetraplegia	HP:0002510
6785	ELOVL4	Abnormal pyramidal sign	HP:0007256
6785	ELOVL4	Central scotoma	HP:0000603
6785	ELOVL4	Flexion contracture	HP:0001371
6785	ELOVL4	Impaired smooth pursuit	HP:0007772
6785	ELOVL4	Supranuclear gaze palsy	HP:0000605
6785	ELOVL4	Macular degeneration	HP:0000608
6785	ELOVL4	Papule	HP:0200034
6785	ELOVL4	Abnormal choroid morphology	HP:0000610
6785	ELOVL4	Growth delay	HP:0001510
6785	ELOVL4	Strabismus	HP:0000486
6785	ELOVL4	Macular atrophy	HP:0007401
6785	ELOVL4	Spasticity	HP:0001257
6785	ELOVL4	Dysarthria	HP:0001260
6785	ELOVL4	Abnormal foveal morphology	HP:0000493
6785	ELOVL4	Reduced visual acuity	HP:0007663
6785	ELOVL4	Global developmental delay	HP:0001263
6785	ELOVL4	Hyporeflexia	HP:0001265
6785	ELOVL4	Macular flecks	HP:0011507
6785	ELOVL4	Incomplete penetrance	HP:0003829
6785	ELOVL4	Cerebellar atrophy	HP:0001272
6785	ELOVL4	Retinal thinning	HP:0030329
6785	ELOVL4	Congenital onset	HP:0003577
6785	ELOVL4	Aplasia/Hypoplasia of the macula	HP:0008059
6785	ELOVL4	High myopia	HP:0011003
6785	ELOVL4	Microcephaly	HP:0000252
6785	ELOVL4	Scaling skin	HP:0040189
6785	ELOVL4	Nystagmus	HP:0000639
23169	SLC35D1	Macrocephaly	HP:0000256
23169	SLC35D1	Brachydactyly	HP:0001156
23169	SLC35D1	Short ribs	HP:0000773
23169	SLC35D1	Narrow chest	HP:0000774
23169	SLC35D1	Autosomal recessive inheritance	HP:0000007
23169	SLC35D1	Hypoplastic toenails	HP:0001800
23169	SLC35D1	Advanced ossification of carpal bones	HP:0004233
23169	SLC35D1	Anterior rib cupping	HP:0000907
23169	SLC35D1	Increased fibular diameter	HP:0012107
23169	SLC35D1	Dolichocephaly	HP:0000268
23169	SLC35D1	Abnormal fingernail morphology	HP:0001231
23169	SLC35D1	Malar flattening	HP:0000272
23169	SLC35D1	Metaphyseal irregularity	HP:0003025
23169	SLC35D1	Short neck	HP:0000470
23169	SLC35D1	Midface retrusion	HP:0011800
23169	SLC35D1	Polyhydramnios	HP:0001561
23169	SLC35D1	Diaphyseal thickening	HP:0005019
23169	SLC35D1	Cryptorchidism	HP:0000028
23169	SLC35D1	Fibular hypoplasia	HP:0003038
23169	SLC35D1	Hypoplastic vertebral bodies	HP:0008479
23169	SLC35D1	Ovoid vertebral bodies	HP:0003300
23169	SLC35D1	Micromelia	HP:0002983
23169	SLC35D1	Disproportionate short-limb short stature	HP:0008873
23169	SLC35D1	Advanced tarsal ossification	HP:0008108
23169	SLC35D1	Flat acetabular roof	HP:0003180
23169	SLC35D1	Lymphedema	HP:0001004
23169	SLC35D1	Cleft palate	HP:0000175
23169	SLC35D1	Accelerated skeletal maturation	HP:0005616
23169	SLC35D1	Stillbirth	HP:0003826
23169	SLC35D1	Hypoplastic scapulae	HP:0000882
23169	SLC35D1	Snail-like ilia	HP:0031026
23169	SLC35D1	Hypoplastic ilia	HP:0000946
23169	SLC35D1	Dumbbell-shaped long bone	HP:0000947
23169	SLC35D1	Lateral clavicle hook	HP:0000895
6786	STIM1	Ichthyosis	HP:0008064
6786	STIM1	EMG: myopathic abnormalities	HP:0003458
6786	STIM1	Autosomal dominant inheritance	HP:0000006
6786	STIM1	Autosomal recessive inheritance	HP:0000007
6786	STIM1	Abnormality of coagulation	HP:0001928
6786	STIM1	Nyctalopia	HP:0000662
6786	STIM1	Dyslexia	HP:0010522
6786	STIM1	Exercise-induced myalgia	HP:0003738
6786	STIM1	Migraine	HP:0002076
6786	STIM1	Lymphadenopathy	HP:0002716
6786	STIM1	Recurrent bacterial infections	HP:0002718
6786	STIM1	Recurrent infections	HP:0002719
6786	STIM1	External ophthalmoplegia	HP:0000544
6786	STIM1	Immunodeficiency	HP:0002721
6786	STIM1	Recurrent fever	HP:0001954
6786	STIM1	Elevated serum creatine kinase	HP:0003236
6786	STIM1	Epistaxis	HP:0000421
6786	STIM1	Increased muscle fatiguability	HP:0003750
6786	STIM1	Hyporeflexia of lower limbs	HP:0002600
6786	STIM1	Respiratory insufficiency	HP:0002093
6786	STIM1	Weakness of the intrinsic hand muscles	HP:0009005
6786	STIM1	Frequent falls	HP:0002359
6786	STIM1	Easy fatigability	HP:0003388
6786	STIM1	Prominent nose	HP:0000448
6786	STIM1	Amelogenesis imperfecta	HP:0000705
6786	STIM1	Muscle spasm	HP:0003394
6786	STIM1	Abnormality of the musculature	HP:0003011
6786	STIM1	Hypohidrosis	HP:0000966
6786	STIM1	Muscle fiber tubular inclusions	HP:0100301
6786	STIM1	Abnormal thrombocyte morphology	HP:0001872
6786	STIM1	Thrombocytopenia	HP:0001873
6786	STIM1	Asplenia	HP:0001746
6786	STIM1	Purpura	HP:0000979
6786	STIM1	Proximal amyotrophy	HP:0007126
6786	STIM1	Difficulty running	HP:0009046
6786	STIM1	Hypotelorism	HP:0000601
6786	STIM1	Areflexia of lower limbs	HP:0002522
6786	STIM1	Flexion contracture	HP:0001371
6786	STIM1	Progressive	HP:0003676
6786	STIM1	High forehead	HP:0000348
6786	STIM1	Slow progression	HP:0003677
6786	STIM1	Muscle stiffness	HP:0003552
6786	STIM1	Stroke-like episode	HP:0002401
6786	STIM1	Type 2 muscle fiber atrophy	HP:0003554
6786	STIM1	Short stature	HP:0004322
6786	STIM1	Autoimmune hemolytic anemia	HP:0001890
6786	STIM1	Abnormal bleeding	HP:0001892
6786	STIM1	Muscular hypotonia	HP:0001252
6786	STIM1	Increased variability in muscle fiber diameter	HP:0003557
6786	STIM1	Centrally nucleated skeletal muscle fibers	HP:0003687
6786	STIM1	Abnormal pupil morphology	HP:0000615
6786	STIM1	Miosis	HP:0000616
6786	STIM1	Deeply set eye	HP:0000490
6786	STIM1	Anemia	HP:0001903
6786	STIM1	Nail dysplasia	HP:0002164
6786	STIM1	Variable expressivity	HP:0003828
6786	STIM1	Proximal muscle weakness	HP:0003701
6786	STIM1	Neurological speech impairment	HP:0002167
6786	STIM1	Fatiguable weakness of proximal limb muscles	HP:0030200
6786	STIM1	Hypoplasia of the iris	HP:0007676
6786	STIM1	Adult onset	HP:0003581
6786	STIM1	Myalgia	HP:0003326
6786	STIM1	Myopathy	HP:0003198
64131	XYLT1	Genu recurvatum	HP:0002816
64131	XYLT1	Pectus carinatum	HP:0000768
64131	XYLT1	Relative macrocephaly	HP:0004482
64131	XYLT1	Narrow chest	HP:0000774
64131	XYLT1	Autosomal recessive inheritance	HP:0000007
64131	XYLT1	Proptosis	HP:0000520
64131	XYLT1	Advanced ossification of carpal bones	HP:0004233
64131	XYLT1	Generalized hypotonia	HP:0001290
64131	XYLT1	Camptodactyly of finger	HP:0100490
64131	XYLT1	Radioulnar synostosis	HP:0002974
64131	XYLT1	Depressed nasal bridge	HP:0005280
64131	XYLT1	Truncal obesity	HP:0001956
64131	XYLT1	Broad thumb	HP:0011304
64131	XYLT1	Disproportionate short-limb short stature	HP:0008873
64131	XYLT1	Cleft palate	HP:0000175
64131	XYLT1	Abnormality of the metaphysis	HP:0000944
64131	XYLT1	Severe short stature	HP:0003510
64131	XYLT1	Patellar dislocation	HP:0002999
64131	XYLT1	Bell-shaped thorax	HP:0001591
64131	XYLT1	Round face	HP:0000311
64131	XYLT1	Single transverse palmar crease	HP:0000954
64131	XYLT1	Joint hyperflexibility	HP:0005692
64131	XYLT1	Short metacarpal	HP:0010049
64131	XYLT1	Toe clinodactyly	HP:0001863
64131	XYLT1	Metaphyseal widening	HP:0003016
64131	XYLT1	Short phalanx of finger	HP:0009803
64131	XYLT1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
64131	XYLT1	Anteverted nares	HP:0000463
64131	XYLT1	Blue sclerae	HP:0000592
64131	XYLT1	Flat face	HP:0012368
64131	XYLT1	Short long bone	HP:0003026
64131	XYLT1	Short neck	HP:0000470
64131	XYLT1	Long philtrum	HP:0000343
64131	XYLT1	Scoliosis	HP:0002650
64131	XYLT1	Ventricular septal defect	HP:0001629
64131	XYLT1	Epiphyseal dysplasia	HP:0002656
64131	XYLT1	Intellectual disability	HP:0001249
64131	XYLT1	Elbow dislocation	HP:0003042
64131	XYLT1	Short stature	HP:0004322
64131	XYLT1	Pes planus	HP:0001763
64131	XYLT1	Broad foot	HP:0001769
64131	XYLT1	Joint laxity	HP:0001388
64131	XYLT1	Hypotrichosis	HP:0001006
64131	XYLT1	Accelerated skeletal maturation	HP:0005616
64131	XYLT1	Low-set, posteriorly rotated ears	HP:0000368
64131	XYLT1	Clinodactyly of the 5th finger	HP:0004209
64131	XYLT1	Coxa valga	HP:0002673
64131	XYLT1	Abnormal eyelash morphology	HP:0000499
64131	XYLT1	Small hand	HP:0200055
64131	XYLT1	Glaucoma	HP:0000501
64131	XYLT1	Coxa vara	HP:0002812
64131	XYLT1	Short clavicles	HP:0000894
64131	XYLT1	Pectus excavatum	HP:0000767
23171	GPD1L	Right bundle branch block	HP:0011712
23171	GPD1L	Autosomal dominant inheritance	HP:0000006
23171	GPD1L	Prolonged PR interval	HP:0012248
23171	GPD1L	First degree atrioventricular block	HP:0011705
23171	GPD1L	Sudden cardiac death	HP:0001645
23171	GPD1L	Ventricular fibrillation	HP:0001663
23171	GPD1L	Syncope	HP:0001279
64132	XYLT2	Disproportionate short-trunk short stature	HP:0003521
64132	XYLT2	Unilateral cryptorchidism	HP:0012741
64132	XYLT2	Long fingers	HP:0100807
64132	XYLT2	Amblyopia	HP:0000646
64132	XYLT2	Cataract	HP:0000518
64132	XYLT2	Autosomal recessive inheritance	HP:0000007
64132	XYLT2	Thickened helices	HP:0000391
64132	XYLT2	Vertebral compression fractures	HP:0002953
64132	XYLT2	Abnormality of the antihelix	HP:0009738
64132	XYLT2	Hyperextensible skin	HP:0000974
64132	XYLT2	Long toe	HP:0010511
64132	XYLT2	Webbed neck	HP:0000465
64132	XYLT2	Shield chest	HP:0000914
64132	XYLT2	Abnormal eyebrow morphology	HP:0000534
64132	XYLT2	Short neck	HP:0000470
64132	XYLT2	Sensorineural hearing impairment	HP:0000407
64132	XYLT2	Long philtrum	HP:0000343
64132	XYLT2	Retinal detachment	HP:0000541
64132	XYLT2	Ventricular septal defect	HP:0001629
64132	XYLT2	Platyspondyly	HP:0000926
64132	XYLT2	Atrial septal defect	HP:0001631
64132	XYLT2	Intellectual disability	HP:0001249
64132	XYLT2	Myopia	HP:0000545
64132	XYLT2	Mitral valve prolapse	HP:0001634
64132	XYLT2	Short stature	HP:0004322
64132	XYLT2	Pes planus	HP:0001763
64132	XYLT2	Decreased body weight	HP:0004325
64132	XYLT2	Posteriorly rotated ears	HP:0000358
64132	XYLT2	Thin vermilion border	HP:0000233
64132	XYLT2	Facial hypotonia	HP:0000297
64132	XYLT2	Osteopenia	HP:0000938
64132	XYLT2	Osteoporosis	HP:0000939
64132	XYLT2	Muscle weakness	HP:0001324
64132	XYLT2	Low-set ears	HP:0000369
64132	XYLT2	Low posterior hairline	HP:0002162
64132	XYLT2	Iris hypopigmentation	HP:0007730
64132	XYLT2	Preauricular pit	HP:0004467
64132	XYLT2	Abnormality of the intervertebral disk	HP:0005108
64132	XYLT2	Microphthalmia	HP:0000568
64132	XYLT2	Visual loss	HP:0000572
64132	XYLT2	Joint hyperflexibility	HP:0005692
64132	XYLT2	Hypertelorism	HP:0000316
64132	XYLT2	Thoracic kyphosis	HP:0002942
64132	XYLT2	Nystagmus	HP:0000639
64132	XYLT2	Aplasia/Hypoplasia of the lens	HP:0008063
6789	STK4	Lymphopenia	HP:0001888
6789	STK4	Immunodeficiency	HP:0002721
6789	STK4	Neutropenia	HP:0001875
6789	STK4	Autosomal recessive inheritance	HP:0000007
6789	STK4	Verrucae	HP:0200043
6789	STK4	Recurrent fungal infections	HP:0002841
6789	STK4	Recurrent viral infections	HP:0004429
6789	STK4	Recurrent bacterial infections	HP:0002718
6789	STK4	Atrial septal defect	HP:0001631
64135	IFIH1	Spastic tetraparesis	HP:0001285
64135	IFIH1	Autosomal dominant inheritance	HP:0000006
64135	IFIH1	Myositis	HP:0100614
64135	IFIH1	Spastic paraparesis	HP:0002313
64135	IFIH1	Generalized hypotonia	HP:0001290
64135	IFIH1	Headache	HP:0002315
64135	IFIH1	Hip dislocation	HP:0002827
64135	IFIH1	Cerebral atrophy	HP:0002059
64135	IFIH1	Multiple joint contractures	HP:0002828
64135	IFIH1	Onycholysis	HP:0001806
64135	IFIH1	Hemiplegia/hemiparesis	HP:0004374
64135	IFIH1	Atopic dermatitis	HP:0001047
64135	IFIH1	Aortic valve calcification	HP:0004380
64135	IFIH1	Mitral valve calcification	HP:0004382
64135	IFIH1	Hypoplasia of the corpus callosum	HP:0002079
64135	IFIH1	Myopia	HP:0000545
64135	IFIH1	Acrocyanosis	HP:0001063
64135	IFIH1	Genu valgum	HP:0002857
64135	IFIH1	Osteolytic defects of the phalanges of the hand	HP:0009771
64135	IFIH1	Muscle weakness	HP:0001324
64135	IFIH1	Difficulty walking	HP:0002355
64135	IFIH1	Diabetes mellitus	HP:0000819
64135	IFIH1	Dystonia	HP:0001332
64135	IFIH1	Hypothyroidism	HP:0000821
64135	IFIH1	Micropenis	HP:0000054
64135	IFIH1	Tremor	HP:0001337
64135	IFIH1	Moyamoya phenomenon	HP:0011834
64135	IFIH1	Developmental glaucoma	HP:0001087
64135	IFIH1	Smooth philtrum	HP:0000319
64135	IFIH1	Absent speech	HP:0001344
64135	IFIH1	Loss of speech	HP:0002371
64135	IFIH1	Ventriculomegaly	HP:0002119
64135	IFIH1	Hypoplasia of the maxilla	HP:0000327
64135	IFIH1	Developmental regression	HP:0002376
64135	IFIH1	Hoarse voice	HP:0001609
64135	IFIH1	Vasculitis	HP:0002633
64135	IFIH1	Plagiocephaly	HP:0001357
64135	IFIH1	Aortic aneurysm	HP:0004942
64135	IFIH1	Broad forehead	HP:0000337
64135	IFIH1	Thrombocytopenia	HP:0001873
64135	IFIH1	Porencephalic cyst	HP:0002132
64135	IFIH1	Enchondroma	HP:0030038
64135	IFIH1	Basal ganglia calcification	HP:0002135
64135	IFIH1	Abnormal pyramidal sign	HP:0007256
64135	IFIH1	Expanded metacarpals with widened medullary cavities	HP:0006232
64135	IFIH1	Arthritis	HP:0001369
64135	IFIH1	Scoliosis	HP:0002650
64135	IFIH1	Arrhinencephaly	HP:0002139
64135	IFIH1	Hip subluxation	HP:0030043
64135	IFIH1	Elevated hepatic transaminase	HP:0002910
64135	IFIH1	Large beaked nose	HP:0003683
64135	IFIH1	Calcification of the aorta	HP:0004963
64135	IFIH1	Congestive heart failure	HP:0001635
64135	IFIH1	Nephrotic syndrome	HP:0000100
64135	IFIH1	Hypertrophic cardiomyopathy	HP:0001639
64135	IFIH1	Cardiomegaly	HP:0001640
64135	IFIH1	Shallow acetabular fossae	HP:0003182
64135	IFIH1	Leukodystrophy	HP:0002415
64135	IFIH1	Low-set ears	HP:0000369
64135	IFIH1	Eyelid coloboma	HP:0000625
64135	IFIH1	Coxa valga	HP:0002673
64135	IFIH1	Aortic valve stenosis	HP:0001650
64135	IFIH1	Nystagmus	HP:0000639
64135	IFIH1	Intellectual disability, profound	HP:0002187
64135	IFIH1	Multifocal cerebral white matter abnormalities	HP:0007052
64135	IFIH1	Autoimmunity	HP:0002960
64135	IFIH1	Subvalvular aortic stenosis	HP:0001682
64135	IFIH1	Increased serum interferon-gamma level	HP:0030356
64135	IFIH1	Hepatosplenomegaly	HP:0001433
64135	IFIH1	Brain atrophy	HP:0012444
64135	IFIH1	Recurrent respiratory infections	HP:0002205
64135	IFIH1	Carious teeth	HP:0000670
64135	IFIH1	Raynaud phenomenon	HP:0030880
64135	IFIH1	High anterior hairline	HP:0009890
64135	IFIH1	Unexplained fevers	HP:0001955
64135	IFIH1	Extrapyramidal muscular rigidity	HP:0007076
64135	IFIH1	Expanded metatarsals with widened medullary cavities	HP:0008102
64135	IFIH1	Osteoporosis	HP:0000939
64135	IFIH1	Chronic lymphatic leukemia	HP:0005550
64135	IFIH1	Prolonged neonatal jaundice	HP:0006579
64135	IFIH1	Aortic arch calcification	HP:0005303
64135	IFIH1	Dry skin	HP:0000958
64135	IFIH1	Feeding difficulties	HP:0011968
64135	IFIH1	Hepatomegaly	HP:0002240
64135	IFIH1	Unerupted tooth	HP:0000706
64135	IFIH1	Demyelinating peripheral neuropathy	HP:0007108
64135	IFIH1	Cutis marmorata	HP:0000965
64135	IFIH1	Muscle fiber atrophy	HP:0100295
64135	IFIH1	Tendon rupture	HP:0100550
64135	IFIH1	Neonatal alloimmune thrombocytopenia	HP:0004809
64135	IFIH1	Panniculitis	HP:0012490
64135	IFIH1	Degeneration of the striatum	HP:0040140
64135	IFIH1	Spastic tetraplegia	HP:0002510
64135	IFIH1	Increased antibody level in blood	HP:0010702
64135	IFIH1	Splenomegaly	HP:0001744
64135	IFIH1	Hypoplasia of the tooth germ	HP:0006353
64135	IFIH1	Cerebral calcification	HP:0002514
64135	IFIH1	Waddling gait	HP:0002515
64135	IFIH1	Muscle stiffness	HP:0003552
64135	IFIH1	Cutaneous photosensitivity	HP:0000992
64135	IFIH1	Expanded phalanges with widened medullary cavities	HP:0006112
64135	IFIH1	Irritability	HP:0000737
64135	IFIH1	Pes cavus	HP:0001761
64135	IFIH1	Intellectual disability	HP:0001249
64135	IFIH1	Short stature	HP:0004322
64135	IFIH1	Seizures	HP:0001250
64135	IFIH1	Talipes equinovarus	HP:0001762
64135	IFIH1	Lipoatrophy	HP:0100578
64135	IFIH1	Muscular hypotonia	HP:0001252
64135	IFIH1	Decreased body weight	HP:0004325
64135	IFIH1	Intrauterine growth retardation	HP:0001511
64135	IFIH1	Chronic CSF lymphocytosis	HP:0009704
64135	IFIH1	Muscular hypotonia of the trunk	HP:0008936
64135	IFIH1	Increased CSF interferon alpha	HP:0009709
64135	IFIH1	Chilblains	HP:0009710
64135	IFIH1	Global developmental delay	HP:0001263
64135	IFIH1	Abnormality of eye movement	HP:0000496
64135	IFIH1	Hypoplastic distal radial epiphyses	HP:0006386
64135	IFIH1	Variable expressivity	HP:0003828
64135	IFIH1	Glaucoma	HP:0000501
64135	IFIH1	Incomplete penetrance	HP:0003829
64135	IFIH1	Ptosis	HP:0000508
64135	IFIH1	Microcephaly	HP:0000252
23175	LPIN1	Hyporeflexia	HP:0001265
23175	LPIN1	Myoglobinuria	HP:0002913
23175	LPIN1	Elevated serum creatine kinase	HP:0003236
23175	LPIN1	Areflexia	HP:0001284
23175	LPIN1	Autosomal recessive inheritance	HP:0000007
23175	LPIN1	Fever	HP:0001945
23175	LPIN1	Hyperkalemia	HP:0002153
23175	LPIN1	Muscle weakness	HP:0001324
23175	LPIN1	Myalgia	HP:0003326
23175	LPIN1	Acute rhabdomyolysis	HP:0008942
23175	LPIN1	Acute kidney injury	HP:0001919
6792	CDKL5	Infantile onset	HP:0003593
6792	CDKL5	Generalized hypotonia	HP:0001290
6792	CDKL5	Camptodactyly of finger	HP:0100490
6792	CDKL5	Abnormality of the metacarpal bones	HP:0001163
6792	CDKL5	Intellectual disability, profound	HP:0002187
6792	CDKL5	X-linked dominant inheritance	HP:0001423
6792	CDKL5	Nephrolithiasis	HP:0000787
6792	CDKL5	Wide mouth	HP:0000154
6792	CDKL5	Tapered finger	HP:0001182
6792	CDKL5	Fine hair	HP:0002213
6792	CDKL5	Abnormality of the antitragus	HP:0009896
6792	CDKL5	Underdeveloped nasal alae	HP:0000430
6792	CDKL5	EEG abnormality	HP:0002353
6792	CDKL5	Poor eye contact	HP:0000817
6792	CDKL5	Thick lower lip vermilion	HP:0000179
6792	CDKL5	Infantile spasms	HP:0012469
6792	CDKL5	Thick vermilion border	HP:0012471
6792	CDKL5	Abnormality of movement	HP:0100022
6792	CDKL5	Short palm	HP:0004279
6792	CDKL5	Myoclonus	HP:0001336
6792	CDKL5	Wide nose	HP:0000445
6792	CDKL5	Multifocal seizures	HP:0031165
6792	CDKL5	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6792	CDKL5	Hyperventilation	HP:0002883
6792	CDKL5	Epileptic encephalopathy	HP:0200134
6792	CDKL5	Ventriculomegaly	HP:0002119
6792	CDKL5	Cerebral cortical atrophy	HP:0002120
6792	CDKL5	Developmental regression	HP:0002376
6792	CDKL5	Generalized myoclonic seizures	HP:0002123
6792	CDKL5	Abnormal fingernail morphology	HP:0001231
6792	CDKL5	Anteverted nares	HP:0000463
6792	CDKL5	Broad forehead	HP:0000337
6792	CDKL5	Prominent forehead	HP:0011220
6792	CDKL5	Long philtrum	HP:0000343
6792	CDKL5	Hypsarrhythmia	HP:0002521
6792	CDKL5	Scoliosis	HP:0002650
6792	CDKL5	Stereotypy	HP:0000733
6792	CDKL5	EEG with generalized slow activity	HP:0010845
6792	CDKL5	Intellectual disability	HP:0001249
6792	CDKL5	Cerebral visual impairment	HP:0100704
6792	CDKL5	Seizures	HP:0001250
6792	CDKL5	Constipation	HP:0002019
6792	CDKL5	Gastroesophageal reflux	HP:0002020
6792	CDKL5	Muscular hypotonia	HP:0001252
6792	CDKL5	Spasticity	HP:0001257
6792	CDKL5	Deeply set eye	HP:0000490
6792	CDKL5	Inability to walk	HP:0002540
6792	CDKL5	Hearing impairment	HP:0000365
6792	CDKL5	Short foot	HP:0001773
6792	CDKL5	Global developmental delay	HP:0001263
6792	CDKL5	Clinodactyly of the 5th finger	HP:0004209
6792	CDKL5	Abnormality of skin morphology	HP:0011121
6792	CDKL5	Small hand	HP:0200055
6792	CDKL5	Microcephaly	HP:0000252
6792	CDKL5	Progressive microcephaly	HP:0000253
146059	CDAN1	Reticulocytosis	HP:0001923
146059	CDAN1	Erythroid hyperplasia	HP:0012132
146059	CDAN1	Reduced activity of N-acetylglucosaminyltransferase II	HP:0003655
146059	CDAN1	Syndactyly	HP:0001159
146059	CDAN1	Autosomal recessive inheritance	HP:0000007
146059	CDAN1	Anisocytosis	HP:0011273
146059	CDAN1	Splenomegaly	HP:0001744
146059	CDAN1	Prolonged neonatal jaundice	HP:0006579
146059	CDAN1	Endopolyploidy on chromosome studies of bone marrow	HP:0003352
146059	CDAN1	Mild postnatal growth retardation	HP:0001530
146059	CDAN1	Macrocytic dyserythropoietic anemia	HP:0005532
146059	CDAN1	Hydrops fetalis	HP:0001789
146059	CDAN1	Poikilocytosis	HP:0004447
6794	STK11	Gynecomastia	HP:0000771
6794	STK11	Gonadal dysgenesis	HP:0000133
6794	STK11	Autosomal dominant inheritance	HP:0000006
6794	STK11	Neoplasm of the rectum	HP:0100743
6794	STK11	Ovarian cyst	HP:0000138
6794	STK11	Hypermelanotic macule	HP:0001034
6794	STK11	Carcinoma	HP:0030731
6794	STK11	Precocious puberty with Sertoli cell tumor	HP:0008204
6794	STK11	Esophageal neoplasm	HP:0100751
6794	STK11	Intussusception	HP:0002576
6794	STK11	Abnormality of the gallbladder	HP:0005264
6794	STK11	Abnormality of metabolism/homeostasis	HP:0001939
6794	STK11	Somatic mutation	HP:0001428
6794	STK11	Clubbing of fingers	HP:0100759
6794	STK11	Intestinal bleeding	HP:0002584
6794	STK11	Abnormality of the mouth	HP:0000153
6794	STK11	Azoospermia	HP:0000027
6794	STK11	Cryptorchidism	HP:0000028
6794	STK11	Uterine neoplasm	HP:0010784
6794	STK11	Sporadic	HP:0003745
6794	STK11	Choriocarcinoma	HP:0100768
6794	STK11	Melanonychia	HP:0100644
6794	STK11	Hamartomatous polyposis	HP:0004390
6794	STK11	Neoplasm of the lung	HP:0100526
6794	STK11	Neoplasm of the nose	HP:0012720
6794	STK11	Neoplasm of the colon	HP:0100273
6794	STK11	Biliary tract abnormality	HP:0001080
6794	STK11	Breast carcinoma	HP:0003002
6794	STK11	Multiple renal cysts	HP:0005562
6794	STK11	Abnormal pigmentation of the oral mucosa	HP:0100669
6794	STK11	Gastrointestinal hemorrhage	HP:0002239
6794	STK11	Teratoma	HP:0009792
6794	STK11	Clubbing	HP:0001217
6794	STK11	Abnormality of the ureter	HP:0000069
6794	STK11	Pancreatic adenocarcinoma	HP:0006725
6794	STK11	Neoplasm of the pancreas	HP:0002894
6794	STK11	Renal cell carcinoma	HP:0005584
6794	STK11	Increased level of L-fucose in urine	HP:0410067
6794	STK11	Vomiting	HP:0002013
6794	STK11	Intestinal obstruction	HP:0005214
6794	STK11	Stomach cancer	HP:0012126
6794	STK11	Biliary tract neoplasm	HP:0100574
6794	STK11	Neoplasm of the small intestine	HP:0100833
6794	STK11	Iron deficiency anemia	HP:0001891
6794	STK11	Enlarged polycystic ovaries	HP:0008675
6794	STK11	Nasal polyposis	HP:0100582
6794	STK11	Abdominal pain	HP:0002027
6794	STK11	Multiple lentigines	HP:0001003
6794	STK11	Anemia	HP:0001903
6794	STK11	Gastrointestinal carcinoma	HP:0002672
6794	STK11	Rectal prolapse	HP:0002035
6794	STK11	Gastrointestinal infarctions	HP:0005244
6794	STK11	Cervix cancer	HP:0030079
146057	TTBK2	Jerky ocular pursuit movements	HP:0008003
146057	TTBK2	Hyperreflexia	HP:0001347
146057	TTBK2	Peripheral neuropathy	HP:0009830
146057	TTBK2	Autosomal dominant inheritance	HP:0000006
146057	TTBK2	Dysarthria	HP:0001260
146057	TTBK2	Vertical nystagmus	HP:0010544
146057	TTBK2	Difficulty walking	HP:0002355
146057	TTBK2	Dystonia	HP:0001332
146057	TTBK2	Abnormal pyramidal sign	HP:0007256
146057	TTBK2	Cerebellar atrophy	HP:0001272
146057	TTBK2	Progressive cerebellar ataxia	HP:0002073
146057	TTBK2	Horizontal nystagmus	HP:0000666
146057	TTBK2	Gait imbalance	HP:0002141
146057	TTBK2	Adult onset	HP:0003581
146057	TTBK2	Dysphagia	HP:0002015
146057	TTBK2	Nystagmus	HP:0000639
6795	AURKC	Male infertility	HP:0003251
6795	AURKC	Autosomal recessive inheritance	HP:0000007
6795	AURKC	Functional abnormality of male internal genitalia	HP:0000025
6804	STX1A	Hepatomegaly	HP:0002240
6804	STX1A	Immunodeficiency	HP:0002721
6804	STX1A	Biliary cirrhosis	HP:0002613
6804	STX1A	Malabsorption	HP:0002024
6804	STX1A	Decreased antibody level in blood	HP:0004313
6804	STX1A	Exocrine pancreatic insufficiency	HP:0001738
6804	STX1A	Recurrent respiratory infections	HP:0002205
6804	STX1A	Pulmonary fibrosis	HP:0002206
23189	KANK1	Intellectual disability	HP:0001249
23189	KANK1	Autosomal dominant inheritance with maternal imprinting	HP:0012275
23189	KANK1	Muscular hypotonia	HP:0001252
23189	KANK1	Cerebral palsy	HP:0100021
23189	KANK1	Ventriculomegaly	HP:0002119
23189	KANK1	Cerebral atrophy	HP:0002059
23189	KANK1	Spastic tetraplegia	HP:0002510
55958	KLHL9	EMG: myopathic abnormalities	HP:0003458
55958	KLHL9	Ankle contracture	HP:0006466
55958	KLHL9	Amyotrophy of ankle musculature	HP:0009031
55958	KLHL9	Progressive distal muscle weakness	HP:0009063
55958	KLHL9	Weakness of the intrinsic hand muscles	HP:0009005
55958	KLHL9	Loss of ability to walk	HP:0006957
55958	KLHL9	Absent Achilles reflex	HP:0003438
55958	KLHL9	Steppage gait	HP:0003376
55958	KLHL9	Abnormal circulating creatine kinase concentration	HP:0040081
55958	KLHL9	Difficulty walking	HP:0002355
55958	KLHL9	Peripheral axonal neuropathy	HP:0003477
55958	KLHL9	Abnormality of the calf musculature	HP:0001430
55958	KLHL9	Impaired vibration sensation in the lower limbs	HP:0002166
55958	KLHL9	Impaired distal tactile sensation	HP:0006937
55958	KLHL9	Intrinsic hand muscle atrophy	HP:0008954
55958	KLHL9	Absent patellar reflexes	HP:0006844
6809	STX3	Villous atrophy	HP:0011473
6809	STX3	Hypovolemia	HP:0011106
6809	STX3	Abnormal renal physiology	HP:0012211
6809	STX3	Metabolic acidosis	HP:0001942
6809	STX3	Abdominal distention	HP:0003270
6809	STX3	Dehydration	HP:0001944
6809	STX3	Nephrocalcinosis	HP:0000121
6809	STX3	Pruritus	HP:0000989
6809	STX3	Diarrhea	HP:0002014
6809	STX3	Global developmental delay	HP:0001263
23193	GANAB	Dilatation of the cerebral artery	HP:0004944
23193	GANAB	Polycystic kidney dysplasia	HP:0000113
23193	GANAB	Decreased liver function	HP:0001410
23193	GANAB	Variable expressivity	HP:0003828
23193	GANAB	Autosomal dominant inheritance	HP:0000006
23193	GANAB	Hypertension	HP:0000822
23193	GANAB	Hepatic cysts	HP:0001407
6812	STXBP1	Autosomal dominant inheritance	HP:0000006
6812	STXBP1	Optic atrophy	HP:0000648
6812	STXBP1	Generalized hypotonia	HP:0001290
6812	STXBP1	Camptodactyly of finger	HP:0100490
6812	STXBP1	Abnormality of the metacarpal bones	HP:0001163
6812	STXBP1	Cerebral atrophy	HP:0002059
6812	STXBP1	Psychomotor retardation	HP:0025356
6812	STXBP1	Unsteady gait	HP:0002317
6812	STXBP1	Rigidity	HP:0002063
6812	STXBP1	Obtundation status	HP:0011151
6812	STXBP1	Encephalopathy	HP:0001298
6812	STXBP1	Nephrolithiasis	HP:0000787
6812	STXBP1	Generalized tonic-clonic seizures	HP:0002069
6812	STXBP1	Decreased fetal movement	HP:0001558
6812	STXBP1	Cerebral hypomyelination	HP:0006808
6812	STXBP1	Wide mouth	HP:0000154
6812	STXBP1	Hypodontia	HP:0000668
6812	STXBP1	Abnormal myelination	HP:0012447
6812	STXBP1	Hypoplasia of the corpus callosum	HP:0002079
6812	STXBP1	Retinal degeneration	HP:0000546
6812	STXBP1	Fine hair	HP:0002213
6812	STXBP1	Generalized tonic-clonic seizures with focal onset	HP:0007334
6812	STXBP1	Neonatal onset	HP:0003623
6812	STXBP1	Abnormality of the antitragus	HP:0009896
6812	STXBP1	Underdeveloped nasal alae	HP:0000430
6812	STXBP1	EEG abnormality	HP:0002353
6812	STXBP1	Difficulty walking	HP:0002355
6812	STXBP1	Dyskinesia	HP:0100660
6812	STXBP1	Infantile spasms	HP:0012469
6812	STXBP1	Thick vermilion border	HP:0012471
6812	STXBP1	Abnormality of movement	HP:0100022
6812	STXBP1	Myoclonus	HP:0001336
6812	STXBP1	Tremor	HP:0001337
6812	STXBP1	Wide nose	HP:0000445
6812	STXBP1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
6812	STXBP1	Feeding difficulties	HP:0011968
6812	STXBP1	Absent speech	HP:0001344
6812	STXBP1	Infantile encephalopathy	HP:0007105
6812	STXBP1	Generalized tonic seizures	HP:0010818
6812	STXBP1	Febrile seizures	HP:0002373
6812	STXBP1	Epileptic encephalopathy	HP:0200134
6812	STXBP1	Ventriculomegaly	HP:0002119
6812	STXBP1	Cerebral cortical atrophy	HP:0002120
6812	STXBP1	Developmental regression	HP:0002376
6812	STXBP1	Generalized myoclonic seizures	HP:0002123
6812	STXBP1	Limb hypertonia	HP:0002509
6812	STXBP1	Autism	HP:0000717
6812	STXBP1	Spastic tetraplegia	HP:0002510
6812	STXBP1	Abnormal fingernail morphology	HP:0001231
6812	STXBP1	Focal impaired awareness seizure	HP:0002384
6812	STXBP1	Severe global developmental delay	HP:0011344
6812	STXBP1	Status epilepticus	HP:0002133
6812	STXBP1	Neurodevelopmental delay	HP:0012758
6812	STXBP1	Long philtrum	HP:0000343
6812	STXBP1	Hypsarrhythmia	HP:0002521
6812	STXBP1	Epileptic spasms	HP:0011097
6812	STXBP1	Focal clonic seizures	HP:0002266
6812	STXBP1	High forehead	HP:0000348
6812	STXBP1	EEG with multifocal slow activity	HP:0010844
6812	STXBP1	Cutaneous photosensitivity	HP:0000992
6812	STXBP1	Intellectual disability	HP:0001249
6812	STXBP1	Seizures	HP:0001250
6812	STXBP1	Short stature	HP:0004322
6812	STXBP1	Ataxia	HP:0001251
6812	STXBP1	EEG with burst suppression	HP:0010851
6812	STXBP1	Gastroesophageal reflux	HP:0002020
6812	STXBP1	Failure to thrive	HP:0001508
6812	STXBP1	Muscular hypotonia	HP:0001252
6812	STXBP1	Impulsivity	HP:0100710
6812	STXBP1	Spasticity	HP:0001257
6812	STXBP1	Attention deficit hyperactivity disorder	HP:0007018
6812	STXBP1	Spastic paraplegia	HP:0001258
6812	STXBP1	Hearing impairment	HP:0000365
6812	STXBP1	Downslanted palpebral fissures	HP:0000494
6812	STXBP1	Delayed speech and language development	HP:0000750
6812	STXBP1	Global developmental delay	HP:0001263
6812	STXBP1	Intellectual disability, severe	HP:0010864
6812	STXBP1	Clinodactyly of the 5th finger	HP:0004209
6812	STXBP1	Hyporeflexia	HP:0001265
6812	STXBP1	Abnormality of skin morphology	HP:0011121
6812	STXBP1	Mental deterioration	HP:0001268
6812	STXBP1	Variable expressivity	HP:0003828
6812	STXBP1	Poor head control	HP:0002421
6812	STXBP1	Abnormality of vision	HP:0000504
6812	STXBP1	Abnormal corpus callosum morphology	HP:0001273
6812	STXBP1	Microcephaly	HP:0000252
6812	STXBP1	Ptosis	HP:0000508
6812	STXBP1	Nystagmus	HP:0000639
6812	STXBP1	Impaired horizontal smooth pursuit	HP:0001151
6813	STXBP2	Abnormal natural killer cell physiology	HP:0012177
6813	STXBP2	Increased serum ferritin	HP:0003281
6813	STXBP2	Recurrent fever	HP:0001954
6813	STXBP2	Autosomal recessive inheritance	HP:0000007
6813	STXBP2	Hepatosplenomegaly	HP:0001433
6813	STXBP2	Hypertriglyceridemia	HP:0002155
6813	STXBP2	Hemophagocytosis	HP:0012156
55967	NDUFA12	Delayed ability to walk	HP:0031936
55967	NDUFA12	Skeletal muscle atrophy	HP:0003202
55967	NDUFA12	Hyperreflexia	HP:0001347
55967	NDUFA12	Pigmentary retinopathy	HP:0000580
55967	NDUFA12	Optic atrophy	HP:0000648
55967	NDUFA12	Emotional lability	HP:0000712
55967	NDUFA12	Generalized hypotonia	HP:0001290
55967	NDUFA12	Decreased activity of mitochondrial respiratory chain	HP:0008972
55967	NDUFA12	Focal T2 hyperintense basal ganglia lesion	HP:0007183
55967	NDUFA12	Progressive cerebellar ataxia	HP:0002073
55967	NDUFA12	Ophthalmoplegia	HP:0000602
55967	NDUFA12	Progressive	HP:0003676
55967	NDUFA12	Ventricular septal defect	HP:0001629
55967	NDUFA12	Seizures	HP:0001250
55967	NDUFA12	Failure to thrive	HP:0001508
55967	NDUFA12	Muscular hypotonia	HP:0001252
55967	NDUFA12	Strabismus	HP:0000486
55967	NDUFA12	Hypertrichosis	HP:0000998
55967	NDUFA12	Peripheral neuropathy	HP:0009830
55967	NDUFA12	Increased serum lactate	HP:0002151
55967	NDUFA12	Hypertrophic cardiomyopathy	HP:0001639
55967	NDUFA12	Progressive spastic paraplegia	HP:0007020
55967	NDUFA12	Dysarthria	HP:0001260
55967	NDUFA12	Hearing impairment	HP:0000365
55967	NDUFA12	Anemia	HP:0001903
55967	NDUFA12	Global developmental delay	HP:0001263
55967	NDUFA12	Leukodystrophy	HP:0002415
55967	NDUFA12	Intellectual disability, severe	HP:0010864
55967	NDUFA12	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
55967	NDUFA12	Dystonia	HP:0001332
55967	NDUFA12	Apnea	HP:0002104
55967	NDUFA12	Increased CSF lactate	HP:0002490
55967	NDUFA12	Ptosis	HP:0000508
55967	NDUFA12	Nystagmus	HP:0000639
23203	PMPCA	Saccadic smooth pursuit	HP:0001152
23203	PMPCA	Hyperreflexia	HP:0001347
23203	PMPCA	Behavioral abnormality	HP:0000708
23203	PMPCA	Cataract	HP:0000518
23203	PMPCA	Autosomal recessive inheritance	HP:0000007
23203	PMPCA	Incoordination	HP:0002311
23203	PMPCA	Gait disturbance	HP:0001288
23203	PMPCA	Infantile onset	HP:0003593
23203	PMPCA	Generalized hypotonia	HP:0001290
23203	PMPCA	Unsteady gait	HP:0002317
23203	PMPCA	Gait ataxia	HP:0002066
23203	PMPCA	Ocular albinism	HP:0001107
23203	PMPCA	Limb ataxia	HP:0002070
23203	PMPCA	Generalized hypopigmentation	HP:0007513
23203	PMPCA	Scoliosis	HP:0002650
23203	PMPCA	Dysmetria	HP:0001310
23203	PMPCA	Nonprogressive	HP:0003680
23203	PMPCA	Intellectual disability	HP:0001249
23203	PMPCA	Pes cavus	HP:0001761
23203	PMPCA	Short stature	HP:0004322
23203	PMPCA	Ataxia	HP:0001251
23203	PMPCA	Muscular hypotonia	HP:0001252
23203	PMPCA	White hair	HP:0011364
23203	PMPCA	Malabsorption	HP:0002024
23203	PMPCA	Spasticity	HP:0001257
23203	PMPCA	Cerebellar hypoplasia	HP:0001321
23203	PMPCA	Dysarthria	HP:0001260
23203	PMPCA	Delayed speech and language development	HP:0000750
23203	PMPCA	Abnormal retinal vascular morphology	HP:0008046
23203	PMPCA	Global developmental delay	HP:0001263
23203	PMPCA	Hyporeflexia	HP:0001265
23203	PMPCA	Tremor	HP:0001337
23203	PMPCA	Gliosis	HP:0002171
23203	PMPCA	Nystagmus	HP:0000639
23204	ARL6IP1	Difficulty walking	HP:0002355
23204	ARL6IP1	Abnormality of the Achilles tendon	HP:0005109
23204	ARL6IP1	Scissor gait	HP:0012407
23204	ARL6IP1	Polyneuropathy	HP:0001271
23204	ARL6IP1	Autosomal recessive inheritance	HP:0000007
23204	ARL6IP1	Motor polyneuropathy	HP:0007178
23204	ARL6IP1	Spastic paraplegia	HP:0001258
23204	ARL6IP1	Hyperactive patellar reflex	HP:0007083
23204	ARL6IP1	Sensory neuropathy	HP:0000763
23204	ARL6IP1	Inability to walk	HP:0002540
23204	ARL6IP1	Absent Achilles reflex	HP:0003438
23204	ARL6IP1	Abnormality of the knee	HP:0002815
6820	SULT2B1	Ichthyosis	HP:0008064
6820	SULT2B1	Hyperkeratosis	HP:0000962
6820	SULT2B1	Chronic otitis media	HP:0000389
6820	SULT2B1	Lack of skin elasticity	HP:0100679
6820	SULT2B1	Sparse hair	HP:0008070
6820	SULT2B1	Autosomal recessive inheritance	HP:0000007
6820	SULT2B1	Sepsis	HP:0100806
6820	SULT2B1	Ectropion	HP:0000656
6820	SULT2B1	Renal insufficiency	HP:0000083
6820	SULT2B1	Gangrene	HP:0100758
6820	SULT2B1	Dehydration	HP:0001944
6820	SULT2B1	Pruritus	HP:0000989
6820	SULT2B1	Recurrent respiratory infections	HP:0002205
6820	SULT2B1	Erythema	HP:0010783
6820	SULT2B1	Abnormality of the helix	HP:0011039
6820	SULT2B1	Short stature	HP:0004322
6820	SULT2B1	Abnormality of the dentition	HP:0000164
6820	SULT2B1	Everted lower lip vermilion	HP:0000232
6820	SULT2B1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
6820	SULT2B1	Hypotrichosis	HP:0001006
6820	SULT2B1	Orthokeratotic hyperkeratosis	HP:0025080
6820	SULT2B1	Erythroderma	HP:0001019
6820	SULT2B1	Scaling skin	HP:0040189
6820	SULT2B1	Abnormality of the nail	HP:0001597
6820	SULT2B1	Dry skin	HP:0000958
6820	SULT2B1	Cognitive impairment	HP:0100543
6821	SUOX	Seizures	HP:0001250
6821	SUOX	Ataxia	HP:0001251
6821	SUOX	Eczema	HP:0000964
6821	SUOX	Fine hair	HP:0002213
6821	SUOX	Increased urinary sulfite	HP:0011942
6821	SUOX	Autosomal recessive inheritance	HP:0000007
6821	SUOX	Agitation	HP:0000713
6821	SUOX	Generalized hypotonia	HP:0001290
6821	SUOX	Delayed eruption of teeth	HP:0000684
6821	SUOX	Global developmental delay	HP:0001263
6821	SUOX	Choreoathetosis	HP:0001266
6821	SUOX	Death in infancy	HP:0001522
6821	SUOX	Infantile muscular hypotonia	HP:0008947
6821	SUOX	Sulfite oxidase deficiency	HP:0003643
6821	SUOX	Ectopia lentis	HP:0001083
6821	SUOX	Hypertonia	HP:0001276
6821	SUOX	Hemiplegia	HP:0002301
6821	SUOX	Generalized dystonia	HP:0007325
6821	SUOX	Decreased urinary sulfate	HP:0003359
55975	KLHL7	Abnormal electroretinogram	HP:0000512
55975	KLHL7	Autosomal dominant inheritance	HP:0000006
55975	KLHL7	Cataract	HP:0000518
55975	KLHL7	Narrow chest	HP:0000774
55975	KLHL7	Intestinal malrotation	HP:0002566
55975	KLHL7	Hypogonadism	HP:0000135
55975	KLHL7	Optic atrophy	HP:0000648
55975	KLHL7	Proptosis	HP:0000520
55975	KLHL7	Infantile onset	HP:0003593
55975	KLHL7	Thick hair	HP:0100874
55975	KLHL7	Camptodactyly of finger	HP:0100490
55975	KLHL7	Conductive hearing impairment	HP:0000405
55975	KLHL7	Retrognathia	HP:0000278
55975	KLHL7	Sensorineural hearing impairment	HP:0000407
55975	KLHL7	Abnormality of retinal pigmentation	HP:0007703
55975	KLHL7	Inguinal hernia	HP:0000023
55975	KLHL7	Synophrys	HP:0000664
55975	KLHL7	Dandy-Walker malformation	HP:0001305
55975	KLHL7	Polyhydramnios	HP:0001561
55975	KLHL7	Platyspondyly	HP:0000926
55975	KLHL7	Hypoplasia of the corpus callosum	HP:0002079
55975	KLHL7	Hypoplasia of penis	HP:0008736
55975	KLHL7	Myopia	HP:0000545
55975	KLHL7	Abnormal testis morphology	HP:0000035
55975	KLHL7	Underdeveloped supraorbital ridges	HP:0009891
55975	KLHL7	Full cheeks	HP:0000293
55975	KLHL7	Low anterior hairline	HP:0000294
55975	KLHL7	Wide nasal bridge	HP:0000431
55975	KLHL7	Cleft palate	HP:0000175
55975	KLHL7	Keratoconus	HP:0000563
55975	KLHL7	Convex nasal ridge	HP:0000444
55975	KLHL7	Hypertelorism	HP:0000316
55975	KLHL7	Accessory oral frenulum	HP:0000191
55975	KLHL7	Feeding difficulties	HP:0011968
55975	KLHL7	Short thorax	HP:0010306
55975	KLHL7	Hyperreflexia	HP:0001347
55975	KLHL7	Abnormality of the pancreas	HP:0001732
55975	KLHL7	Biparietal narrowing	HP:0004422
55975	KLHL7	Upslanted palpebral fissure	HP:0000582
55975	KLHL7	Cerebral cortical atrophy	HP:0002120
55975	KLHL7	Hyperinsulinemia	HP:0000842
55975	KLHL7	Cleft upper lip	HP:0000204
55975	KLHL7	Abnormality of the kidney	HP:0000077
55975	KLHL7	Anteverted nares	HP:0000463
55975	KLHL7	Abnormal anterior chamber morphology	HP:0000593
55975	KLHL7	Wide intermamillary distance	HP:0006610
55975	KLHL7	Pallor	HP:0000980
55975	KLHL7	Abnormality of cardiovascular system morphology	HP:0030680
55975	KLHL7	High palate	HP:0000218
55975	KLHL7	Ophthalmoplegia	HP:0000602
55975	KLHL7	Type II diabetes mellitus	HP:0005978
55975	KLHL7	Atypical scarring of skin	HP:0000987
55975	KLHL7	Talipes	HP:0001883
55975	KLHL7	Dysphagia	HP:0002015
55975	KLHL7	Limitation of joint mobility	HP:0001376
55975	KLHL7	Intellectual disability	HP:0001249
55975	KLHL7	Seizures	HP:0001250
55975	KLHL7	Elbow dislocation	HP:0003042
55975	KLHL7	Failure to thrive	HP:0001508
55975	KLHL7	Gastroesophageal reflux	HP:0002020
55975	KLHL7	Photophobia	HP:0000613
55975	KLHL7	Strabismus	HP:0000486
55975	KLHL7	Intrauterine growth retardation	HP:0001511
55975	KLHL7	Retinopathy	HP:0000488
55975	KLHL7	Obesity	HP:0001513
55975	KLHL7	Blindness	HP:0000618
55975	KLHL7	Short foot	HP:0001773
55975	KLHL7	Hearing impairment	HP:0000365
55975	KLHL7	Abnormal retinal vascular morphology	HP:0008046
55975	KLHL7	Prominent metopic ridge	HP:0005487
55975	KLHL7	Global developmental delay	HP:0001263
55975	KLHL7	Intellectual disability, severe	HP:0010864
55975	KLHL7	Low-set ears	HP:0000369
55975	KLHL7	Death in infancy	HP:0001522
55975	KLHL7	Trigonocephaly	HP:0000243
55975	KLHL7	Glaucoma	HP:0000501
55975	KLHL7	Nevus flammeus of the forehead	HP:0007413
55975	KLHL7	Ulnar deviation of finger	HP:0009465
55975	KLHL7	Progressive night blindness	HP:0007675
55975	KLHL7	Microcephaly	HP:0000252
55975	KLHL7	Rod-cone dystrophy	HP:0000510
55975	KLHL7	Supernumerary nipple	HP:0002558
55975	KLHL7	Nystagmus	HP:0000639
23209	MLC1	Macrocephaly	HP:0000256
23209	MLC1	Seizures	HP:0001250
23209	MLC1	Ataxia	HP:0001251
23209	MLC1	Motor delay	HP:0001270
23209	MLC1	Autosomal recessive inheritance	HP:0000007
23209	MLC1	Intellectual disability, mild	HP:0001256
23209	MLC1	Infantile onset	HP:0003593
23209	MLC1	Spasticity	HP:0001257
23209	MLC1	Megalencephaly	HP:0001355
23209	MLC1	Diffuse swelling of cerebral white matter	HP:0007341
23209	MLC1	Diffuse spongiform leukoencephalopathy	HP:0006943
121512	FGD4	Pes cavus	HP:0001761
121512	FGD4	Talipes equinovarus	HP:0001762
121512	FGD4	Areflexia	HP:0001284
121512	FGD4	Autosomal recessive inheritance	HP:0000007
121512	FGD4	Decreased motor nerve conduction velocity	HP:0003431
121512	FGD4	Infantile onset	HP:0003593
121512	FGD4	Distal lower limb amyotrophy	HP:0008944
121512	FGD4	Hyporeflexia	HP:0001265
121512	FGD4	Heterogeneous	HP:0001425
121512	FGD4	Waddling gait	HP:0002515
121512	FGD4	Decreased number of peripheral myelinated nerve fibers	HP:0003380
121512	FGD4	Motor delay	HP:0001270
121512	FGD4	Onion bulb formation	HP:0003383
121512	FGD4	Distal sensory impairment	HP:0002936
121512	FGD4	Peripheral demyelination	HP:0011096
121512	FGD4	Scoliosis	HP:0002650
121512	FGD4	Upper limb muscle weakness	HP:0003484
121512	FGD4	Distal lower limb muscle weakness	HP:0009053
64170	CARD9	Immunodeficiency	HP:0002721
64170	CARD9	Autosomal recessive inheritance	HP:0000007
64170	CARD9	Meningitis	HP:0001287
64170	CARD9	Chronic oral candidiasis	HP:0009098
64170	CARD9	Onychomycosis	HP:0012203
64170	CARD9	Abnormality of the nail	HP:0001597
64170	CARD9	Abnormality of blood and blood-forming tissues	HP:0001871
64175	P3H1	Short metacarpal	HP:0010049
64175	P3H1	Wide anterior fontanel	HP:0000260
64175	P3H1	Recurrent fractures	HP:0002757
64175	P3H1	Autosomal recessive inheritance	HP:0000007
64175	P3H1	Externally rotated/abducted legs	HP:0003783
64175	P3H1	Proptosis	HP:0000520
64175	P3H1	Type 1 collagen overmodification	HP:0003784
64175	P3H1	Vertebral compression fractures	HP:0002953
64175	P3H1	Delayed cranial suture closure	HP:0000270
64175	P3H1	Barrel-shaped chest	HP:0001552
64175	P3H1	Wormian bones	HP:0002645
64175	P3H1	Inguinal hernia	HP:0000023
64175	P3H1	Scoliosis	HP:0002650
64175	P3H1	Slender long bone	HP:0003100
64175	P3H1	Platyspondyly	HP:0000926
64175	P3H1	Multiple prenatal fractures	HP:0005855
64175	P3H1	Femoral bowing	HP:0002980
64175	P3H1	Tibial bowing	HP:0002982
64175	P3H1	Disproportionate short-limb short stature	HP:0008873
64175	P3H1	Osteopenia	HP:0000938
64175	P3H1	Radial bowing	HP:0002986
64175	P3H1	Decreased skull ossification	HP:0004331
64175	P3H1	Joint laxity	HP:0001388
64175	P3H1	Global developmental delay	HP:0001263
64175	P3H1	Thin ribs	HP:0000883
64175	P3H1	Round face	HP:0000311
64175	P3H1	Kyphosis	HP:0002808
6833	ABCC8	Late onset	HP:0003584
6833	ABCC8	Hyperglycemia	HP:0003074
6833	ABCC8	Reduced pancreatic beta cells	HP:0006274
6833	ABCC8	Clinodactyly	HP:0030084
6833	ABCC8	Glycosuria	HP:0003076
6833	ABCC8	Autosomal dominant inheritance	HP:0000006
6833	ABCC8	Autosomal recessive inheritance	HP:0000007
6833	ABCC8	Beta-cell dysfunction	HP:0006279
6833	ABCC8	Abnormal circulating fatty-acid concentration	HP:0004359
6833	ABCC8	Apraxia	HP:0002186
6833	ABCC8	Steatorrhea	HP:0002570
6833	ABCC8	Heterogeneous	HP:0001425
6833	ABCC8	Generalized tonic-clonic seizures	HP:0002069
6833	ABCC8	Peripheral axonal neuropathy	HP:0003477
6833	ABCC8	Vitamin B1 deficiency	HP:0100503
6833	ABCC8	Hypoglycemia	HP:0001943
6833	ABCC8	Dehydration	HP:0001944
6833	ABCC8	Elevated hemoglobin A1c	HP:0040217
6833	ABCC8	Drowsiness	HP:0002329
6833	ABCC8	Downturned corners of mouth	HP:0002714
6833	ABCC8	Abnormality of the immune system	HP:0002715
6833	ABCC8	Pancreatic islet-cell hyperplasia	HP:0004510
6833	ABCC8	Weight loss	HP:0001824
6833	ABCC8	Pancreatic hypoplasia	HP:0002594
6833	ABCC8	Thickened ears	HP:0009894
6833	ABCC8	Progressive neurologic deterioration	HP:0002344
6833	ABCC8	Muscle weakness	HP:0001324
6833	ABCC8	Hypoglycemic coma	HP:0001325
6833	ABCC8	Secondary growth hormone deficiency	HP:0008240
6833	ABCC8	Limb joint contracture	HP:0003121
6833	ABCC8	Microalbuminuria	HP:0012594
6833	ABCC8	Diabetes mellitus	HP:0000819
6833	ABCC8	Hyperinsulinemic hypoglycemia	HP:0000825
6833	ABCC8	Transient neonatal diabetes mellitus	HP:0008255
6833	ABCC8	Hepatomegaly	HP:0002240
6833	ABCC8	Hypoketotic hypoglycemia	HP:0001985
6833	ABCC8	Hyperreflexia	HP:0001347
6833	ABCC8	Ketoacidosis	HP:0001993
6833	ABCC8	Agitation	HP:0000713
6833	ABCC8	Generalized myoclonic seizures	HP:0002123
6833	ABCC8	Decreased waist to hip ratio	HP:0031820
6833	ABCC8	Abnormality of the pancreatic islet cells	HP:0006476
6833	ABCC8	Mild global developmental delay	HP:0011342
6833	ABCC8	Neonatal hypoglycemia	HP:0001998
6833	ABCC8	Anteverted nares	HP:0000463
6833	ABCC8	Hyperhidrosis	HP:0000975
6833	ABCC8	Bilateral ptosis	HP:0001488
6833	ABCC8	Pallor	HP:0000980
6833	ABCC8	Abnormality of the ear	HP:0000598
6833	ABCC8	Long philtrum	HP:0000343
6833	ABCC8	Insulin resistance	HP:0000855
6833	ABCC8	Clinodactyly of the 4th finger	HP:0040025
6833	ABCC8	Hypsarrhythmia	HP:0002521
6833	ABCC8	Neonatal insulin-dependent diabetes mellitus	HP:0000857
6833	ABCC8	Type II diabetes mellitus	HP:0005978
6833	ABCC8	Abnormal heart morphology	HP:0001627
6833	ABCC8	Vomiting	HP:0002013
6833	ABCC8	Diarrhea	HP:0002014
6833	ABCC8	Intellectual disability	HP:0001249
6833	ABCC8	Irritability	HP:0000737
6833	ABCC8	Seizures	HP:0001250
6833	ABCC8	Hypovolemia	HP:0011106
6833	ABCC8	Ataxia	HP:0001251
6833	ABCC8	Decreased circulating cortisol level	HP:0008163
6833	ABCC8	Failure to thrive	HP:0001508
6833	ABCC8	Muscular hypotonia	HP:0001252
6833	ABCC8	Peripheral neuropathy	HP:0009830
6833	ABCC8	Strabismus	HP:0000486
6833	ABCC8	Lethargy	HP:0001254
6833	ABCC8	Intrauterine growth retardation	HP:0001511
6833	ABCC8	Ketonuria	HP:0002919
6833	ABCC8	Muscular hypotonia of the trunk	HP:0008936
6833	ABCC8	Retinopathy	HP:0000488
6833	ABCC8	Spasticity	HP:0001257
6833	ABCC8	Coma	HP:0001259
6833	ABCC8	Hearing impairment	HP:0000365
6833	ABCC8	Small for gestational age	HP:0001518
6833	ABCC8	Prominent metopic ridge	HP:0005487
6833	ABCC8	Global developmental delay	HP:0001263
6833	ABCC8	Large for gestational age	HP:0001520
6833	ABCC8	Intellectual disability, severe	HP:0010864
6833	ABCC8	Tachycardia	HP:0001649
6833	ABCC8	Abnormal brain FDG positron emission tomography	HP:0012658
6833	ABCC8	Arthrogryposis multiplex congenita	HP:0002804
6833	ABCC8	Motor delay	HP:0001270
6833	ABCC8	Contractures of the joints of the lower limbs	HP:0005750
6833	ABCC8	Radial deviation of finger	HP:0009466
6833	ABCC8	Short nose	HP:0003196
6833	ABCC8	Ptosis	HP:0000508
6833	ABCC8	Renal tubular dysfunction	HP:0000124
6833	ABCC8	Microcephaly	HP:0000252
6833	ABCC8	Hypoglycemic seizures	HP:0002173
23218	NBEAL2	Impaired thrombin-induced platelet aggregation	HP:0011872
23218	NBEAL2	Impaired collagen-induced platelet aggregation	HP:0008320
23218	NBEAL2	Prolonged bleeding time	HP:0003010
23218	NBEAL2	Menorrhagia	HP:0000132
23218	NBEAL2	Epistaxis	HP:0000421
23218	NBEAL2	Myelofibrosis	HP:0011974
23218	NBEAL2	Autosomal dominant inheritance	HP:0000006
23218	NBEAL2	Autosomal recessive inheritance	HP:0000007
23218	NBEAL2	Reduced von Willebrand factor activity	HP:0008330
23218	NBEAL2	Abnormality of the menstrual cycle	HP:0000140
23218	NBEAL2	Myelodysplasia	HP:0002863
23218	NBEAL2	Splenomegaly	HP:0001744
23218	NBEAL2	Thrombocytopenia	HP:0001873
23218	NBEAL2	Bruising susceptibility	HP:0000978
23218	NBEAL2	Reduced quantity of Von Willebrand factor	HP:0012147
23218	NBEAL2	Progressive	HP:0003676
154288	KHDC3L	Autosomal recessive inheritance	HP:0000007
6834	SURF1	Skeletal muscle atrophy	HP:0003202
6834	SURF1	Areflexia	HP:0001284
6834	SURF1	Autosomal recessive inheritance	HP:0000007
6834	SURF1	Optic atrophy	HP:0000648
6834	SURF1	Infantile onset	HP:0003593
6834	SURF1	CNS demyelination	HP:0007305
6834	SURF1	Generalized hypotonia	HP:0001290
6834	SURF1	Decreased activity of mitochondrial respiratory chain	HP:0008972
6834	SURF1	Psychomotor retardation	HP:0025356
6834	SURF1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
6834	SURF1	Heterogeneous	HP:0001425
6834	SURF1	Mitochondrial inheritance	HP:0001427
6834	SURF1	Sensorineural hearing impairment	HP:0000407
6834	SURF1	Progressive cerebellar ataxia	HP:0002073
6834	SURF1	Horizontal nystagmus	HP:0000666
6834	SURF1	Respiratory insufficiency	HP:0002093
6834	SURF1	Difficulty walking	HP:0002355
6834	SURF1	Dystonia	HP:0001332
6834	SURF1	Apnea	HP:0002104
6834	SURF1	Lactic acidosis	HP:0003128
6834	SURF1	Increased CSF lactate	HP:0002490
6834	SURF1	Easy fatigability	HP:0003388
6834	SURF1	Respiratory failure	HP:0002878
6834	SURF1	Kyphoscoliosis	HP:0002751
6834	SURF1	Hyperreflexia	HP:0001347
6834	SURF1	Pigmentary retinopathy	HP:0000580
6834	SURF1	Emotional lability	HP:0000712
6834	SURF1	Peripheral demyelination	HP:0011096
6834	SURF1	Ophthalmoplegia	HP:0000602
6834	SURF1	Progressive	HP:0003676
6834	SURF1	Ventricular septal defect	HP:0001629
6834	SURF1	Slow progression	HP:0003677
6834	SURF1	Intellectual disability	HP:0001249
6834	SURF1	Seizures	HP:0001250
6834	SURF1	Ataxia	HP:0001251
6834	SURF1	Failure to thrive	HP:0001508
6834	SURF1	Muscular hypotonia	HP:0001252
6834	SURF1	Strabismus	HP:0000486
6834	SURF1	Hypertrichosis	HP:0000998
6834	SURF1	Peripheral neuropathy	HP:0009830
6834	SURF1	Increased serum lactate	HP:0002151
6834	SURF1	Hypertrophic cardiomyopathy	HP:0001639
6834	SURF1	Abnormal pattern of respiration	HP:0002793
6834	SURF1	Spasticity	HP:0001257
6834	SURF1	Progressive spastic paraplegia	HP:0007020
6834	SURF1	Dysarthria	HP:0001260
6834	SURF1	Hearing impairment	HP:0000365
6834	SURF1	Anemia	HP:0001903
6834	SURF1	Global developmental delay	HP:0001263
6834	SURF1	Leukodystrophy	HP:0002415
6834	SURF1	Intellectual disability, severe	HP:0010864
6834	SURF1	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
6834	SURF1	Variable expressivity	HP:0003828
6834	SURF1	Axonal loss	HP:0003447
6834	SURF1	Gliosis	HP:0002171
6834	SURF1	Ptosis	HP:0000508
6834	SURF1	Hepatocellular necrosis	HP:0001404
6834	SURF1	Nystagmus	HP:0000639
23221	RHOBTB2	Absent speech	HP:0001344
23221	RHOBTB2	Delayed myelination	HP:0012448
23221	RHOBTB2	Intellectual disability	HP:0001249
23221	RHOBTB2	Ventriculomegaly	HP:0002119
23221	RHOBTB2	Developmental regression	HP:0002376
23221	RHOBTB2	Cerebral cortical atrophy	HP:0002120
23221	RHOBTB2	Cerebellar hypoplasia	HP:0001321
23221	RHOBTB2	Inability to walk	HP:0002540
23221	RHOBTB2	Limb hypertonia	HP:0002509
23221	RHOBTB2	Global developmental delay	HP:0001263
23221	RHOBTB2	Abnormal facial shape	HP:0001999
23221	RHOBTB2	Dystonia	HP:0001332
23221	RHOBTB2	Variable expressivity	HP:0003828
23221	RHOBTB2	Hemiparesis	HP:0001269
23221	RHOBTB2	Status epilepticus	HP:0002133
23221	RHOBTB2	Chorea	HP:0002072
23221	RHOBTB2	Micrognathia	HP:0000347
23221	RHOBTB2	Smooth philtrum	HP:0000319
23221	RHOBTB2	Hypoplasia of the corpus callosum	HP:0002079
285362	SUMF1	Ichthyosis	HP:0008064
285362	SUMF1	Macrocephaly	HP:0000256
285362	SUMF1	Cataract	HP:0000518
285362	SUMF1	Autosomal recessive inheritance	HP:0000007
285362	SUMF1	Optic atrophy	HP:0000648
285362	SUMF1	CNS demyelination	HP:0007305
285362	SUMF1	Cerebral atrophy	HP:0002059
285362	SUMF1	Rapid neurologic deterioration	HP:0007307
285362	SUMF1	Corneal opacity	HP:0007957
285362	SUMF1	Sensorineural hearing impairment	HP:0000407
285362	SUMF1	Abnormality of retinal pigmentation	HP:0007703
285362	SUMF1	Coarse facial features	HP:0000280
285362	SUMF1	Hypoplastic vertebral bodies	HP:0008479
285362	SUMF1	Depressed nasal bridge	HP:0005280
285362	SUMF1	Coarse hair	HP:0002208
285362	SUMF1	Retinal degeneration	HP:0000546
285362	SUMF1	Neonatal hypotonia	HP:0001319
285362	SUMF1	Broad thumb	HP:0011304
285362	SUMF1	Dysostosis multiplex	HP:0000943
285362	SUMF1	Periorbital edema	HP:0100539
285362	SUMF1	Abnormality of peripheral nerve conduction	HP:0003134
285362	SUMF1	Thick eyebrow	HP:0000574
285362	SUMF1	Smooth philtrum	HP:0000319
285362	SUMF1	Hepatomegaly	HP:0002240
285362	SUMF1	Broad hallux	HP:0010055
285362	SUMF1	Ventriculomegaly	HP:0002119
285362	SUMF1	Developmental regression	HP:0002376
285362	SUMF1	Broad hallux phalanx	HP:0010059
285362	SUMF1	Anteverted nares	HP:0000463
285362	SUMF1	Splenomegaly	HP:0001744
285362	SUMF1	Flat face	HP:0012368
285362	SUMF1	Large forehead	HP:0002003
285362	SUMF1	Prominent forehead	HP:0011220
285362	SUMF1	Abnormality of the periventricular white matter	HP:0002518
285362	SUMF1	Peripheral demyelination	HP:0011096
285362	SUMF1	Lower limb hyperreflexia	HP:0002395
285362	SUMF1	Mucopolysacchariduria	HP:0008155
285362	SUMF1	Intellectual disability	HP:0001249
285362	SUMF1	Short stature	HP:0004322
285362	SUMF1	Seizures	HP:0001250
285362	SUMF1	Ataxia	HP:0001251
285362	SUMF1	Spasticity	HP:0001257
285362	SUMF1	Increased CSF protein	HP:0002922
285362	SUMF1	Joint stiffness	HP:0001387
285362	SUMF1	Hearing impairment	HP:0000365
285362	SUMF1	Hydrocephalus	HP:0000238
285362	SUMF1	Global developmental delay	HP:0001263
285362	SUMF1	Cerebellar atrophy	HP:0001272
285362	SUMF1	Visual impairment	HP:0000505
285362	SUMF1	Microcephaly	HP:0000252
23224	SYNE2	Ichthyosis	HP:0008064
23224	SYNE2	Limb-girdle muscular dystrophy	HP:0006785
23224	SYNE2	EMG: myopathic abnormalities	HP:0003458
23224	SYNE2	Autosomal dominant inheritance	HP:0000006
23224	SYNE2	Atrioventricular block	HP:0001678
23224	SYNE2	Sprengel anomaly	HP:0000912
23224	SYNE2	Toe walking	HP:0040083
23224	SYNE2	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0004631
23224	SYNE2	Arrhythmia	HP:0011675
23224	SYNE2	Type 1 muscle fiber atrophy	HP:0011807
23224	SYNE2	Proximal muscle weakness in lower limbs	HP:0008994
23224	SYNE2	Reduced tendon reflexes	HP:0001315
23224	SYNE2	Ventricular escape rhythm	HP:0005155
23224	SYNE2	Elevated serum creatine kinase	HP:0003236
23224	SYNE2	Lipodystrophy	HP:0009125
23224	SYNE2	Absent muscle fiber emerin	HP:0030117
23224	SYNE2	Proximal muscle weakness in upper limbs	HP:0008997
23224	SYNE2	Elbow flexion contracture	HP:0002987
23224	SYNE2	Respiratory insufficiency	HP:0002093
23224	SYNE2	Myotonia	HP:0002486
23224	SYNE2	Respiratory insufficiency due to muscle weakness	HP:0002747
23224	SYNE2	Increased LDL cholesterol concentration	HP:0003141
23224	SYNE2	Vocal cord paralysis	HP:0001605
23224	SYNE2	Childhood onset	HP:0011463
23224	SYNE2	Waddling gait	HP:0002515
23224	SYNE2	Proximal amyotrophy	HP:0007126
23224	SYNE2	Back pain	HP:0003418
23224	SYNE2	Scoliosis	HP:0002650
23224	SYNE2	Rimmed vacuoles	HP:0003805
23224	SYNE2	Muscular hypotonia	HP:0001252
23224	SYNE2	Cardiomyopathy	HP:0001638
23224	SYNE2	Hypertrophic cardiomyopathy	HP:0001639
23224	SYNE2	Muscular dystrophy	HP:0003560
23224	SYNE2	Obesity	HP:0001513
23224	SYNE2	Spinal rigidity	HP:0003306
23224	SYNE2	Hypertriglyceridemia	HP:0002155
23224	SYNE2	Scapular winging	HP:0003691
23224	SYNE2	Hyperlordosis	HP:0003307
23224	SYNE2	Achilles tendon contracture	HP:0001771
23224	SYNE2	Joint stiffness	HP:0001387
23224	SYNE2	Dilated cardiomyopathy	HP:0001644
23224	SYNE2	Sudden cardiac death	HP:0001645
23224	SYNE2	Proximal upper limb amyotrophy	HP:0008948
23224	SYNE2	Proximal muscle weakness	HP:0003701
23224	SYNE2	Kyphosis	HP:0002808
23224	SYNE2	Supraventricular arrhythmia	HP:0005115
23224	SYNE2	Proximal lower limb amyotrophy	HP:0008956
23224	SYNE2	Ptosis	HP:0000508
23224	SYNE2	Pectus excavatum	HP:0000767
6843	VAMP1	Pectus carinatum	HP:0000768
6843	VAMP1	Narrow jaw	HP:0012801
6843	VAMP1	EMG: myopathic abnormalities	HP:0003458
6843	VAMP1	Slow saccadic eye movements	HP:0000514
6843	VAMP1	Bulbar palsy	HP:0001283
6843	VAMP1	Areflexia	HP:0001284
6843	VAMP1	Central hypotonia	HP:0011398
6843	VAMP1	Autosomal dominant inheritance	HP:0000006
6843	VAMP1	Gait disturbance	HP:0001288
6843	VAMP1	Leg muscle stiffness	HP:0008969
6843	VAMP1	Motor polyneuropathy	HP:0007178
6843	VAMP1	Diplopia	HP:0000651
6843	VAMP1	Spastic gait	HP:0002064
6843	VAMP1	Fatigable weakness	HP:0003473
6843	VAMP1	Toe walking	HP:0040083
6843	VAMP1	Long face	HP:0000276
6843	VAMP1	Episodic respiratory distress	HP:0004885
6843	VAMP1	Decreased fetal movement	HP:0001558
6843	VAMP1	Limb ataxia	HP:0002070
6843	VAMP1	Sensorineural hearing impairment	HP:0000407
6843	VAMP1	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
6843	VAMP1	Polyhydramnios	HP:0001561
6843	VAMP1	Recurrent respiratory infections	HP:0002205
6843	VAMP1	Babinski sign	HP:0003487
6843	VAMP1	Spastic dysarthria	HP:0002464
6843	VAMP1	Central sleep apnea	HP:0010536
6843	VAMP1	Jerky head movements	HP:0006961
6843	VAMP1	Memory impairment	HP:0002354
6843	VAMP1	Difficulty walking	HP:0002355
6843	VAMP1	Microretrognathia	HP:0000308
6843	VAMP1	Dystonia	HP:0001332
6843	VAMP1	Esotropia	HP:0000565
6843	VAMP1	Frontalis muscle weakness	HP:0004661
6843	VAMP1	Obstructive sleep apnea	HP:0002870
6843	VAMP1	Respiratory arrest	HP:0005943
6843	VAMP1	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
6843	VAMP1	Staring gaze	HP:0025401
6843	VAMP1	Tremor	HP:0001337
6843	VAMP1	Easy fatigability	HP:0003388
6843	VAMP1	EMG: impaired neuromuscular transmission	HP:0100285
6843	VAMP1	Kyphoscoliosis	HP:0002751
6843	VAMP1	Cyanosis	HP:0000961
6843	VAMP1	Spastic ataxia	HP:0002497
6843	VAMP1	Sudden episodic apnea	HP:0002882
6843	VAMP1	Stridor	HP:0010307
6843	VAMP1	Hyperreflexia	HP:0001347
6843	VAMP1	Muscle fiber atrophy	HP:0100295
6843	VAMP1	Nasal speech	HP:0001611
6843	VAMP1	Weak cry	HP:0001612
6843	VAMP1	Nasal regurgitation	HP:0011469
6843	VAMP1	Impaired proprioception	HP:0010831
6843	VAMP1	Dysphonia	HP:0001618
6843	VAMP1	Neck muscle weakness	HP:0000467
6843	VAMP1	Waddling gait	HP:0002515
6843	VAMP1	EEG with polyspike wave complexes	HP:0002392
6843	VAMP1	High palate	HP:0000218
6843	VAMP1	Ophthalmoplegia	HP:0000602
6843	VAMP1	Distal lower limb muscle weakness	HP:0009053
6843	VAMP1	Supranuclear gaze palsy	HP:0000605
6843	VAMP1	Congenital hip dislocation	HP:0001374
6843	VAMP1	Dysphagia	HP:0002015
6843	VAMP1	Pes cavus	HP:0001761
6843	VAMP1	Intellectual disability	HP:0001249
6843	VAMP1	Seizures	HP:0001250
6843	VAMP1	Ataxia	HP:0001251
6843	VAMP1	Gastroesophageal reflux	HP:0002020
6843	VAMP1	Spinal rigidity	HP:0003306
6843	VAMP1	Spastic paraplegia	HP:0001258
6843	VAMP1	Joint laxity	HP:0001388
6843	VAMP1	Dysarthria	HP:0001260
6843	VAMP1	Abnormal eyelid morphology	HP:0000492
6843	VAMP1	Distal amyotrophy	HP:0003693
6843	VAMP1	Low-set ears	HP:0000369
6843	VAMP1	Poor suck	HP:0002033
6843	VAMP1	Hyporeflexia	HP:0001265
6843	VAMP1	Arthrogryposis multiplex congenita	HP:0002804
6843	VAMP1	Variable expressivity	HP:0003828
6843	VAMP1	Proximal muscle weakness	HP:0003701
6843	VAMP1	Poor head control	HP:0002421
6843	VAMP1	Motor delay	HP:0001270
6843	VAMP1	Impaired vibration sensation in the lower limbs	HP:0002166
6843	VAMP1	Choking episodes	HP:0030842
6843	VAMP1	Spinal deformities	HP:0008443
6843	VAMP1	Generalized muscle weakness	HP:0003324
6843	VAMP1	Ptosis	HP:0000508
6843	VAMP1	Limb-girdle muscle weakness	HP:0003325
6843	VAMP1	Nystagmus	HP:0000639
6845	VAMP7	Elevated circulating luteinizing hormone level	HP:0011969
6845	VAMP7	Primary gonadal insufficiency	HP:0008193
6845	VAMP7	Gynecomastia	HP:0000771
6845	VAMP7	Gonadal dysgenesis	HP:0000133
6845	VAMP7	Vanishing testis	HP:0012870
6845	VAMP7	Adrenal insufficiency	HP:0000846
6845	VAMP7	Primary amenorrhea	HP:0000786
6845	VAMP7	Abnormal sex determination	HP:0012244
6845	VAMP7	Ovarian gonadoblastoma	HP:0000149
6845	VAMP7	Hypoplasia of the vagina	HP:0008726
6845	VAMP7	Decreased serum estradiol	HP:0008214
6845	VAMP7	Abnormality of cardiovascular system morphology	HP:0030680
6845	VAMP7	Clitoral hypertrophy	HP:0008665
6845	VAMP7	Female external genitalia in individual with 46,XY karyotype	HP:0008730
6845	VAMP7	Azoospermia	HP:0000027
6845	VAMP7	Cryptorchidism	HP:0000028
6845	VAMP7	Decreased testicular size	HP:0008734
6845	VAMP7	Testicular gonadoblastoma	HP:0000030
6845	VAMP7	Streak ovary	HP:0010464
6845	VAMP7	Decreased fertility in females	HP:0000868
6845	VAMP7	Nephrotic syndrome	HP:0000100
6845	VAMP7	Sparse axillary hair	HP:0002215
6845	VAMP7	Elevated circulating follicle stimulating hormone level	HP:0008232
6845	VAMP7	Urogenital sinus anomaly	HP:0100779
6845	VAMP7	Nephroblastoma	HP:0002667
6845	VAMP7	Osteoporosis	HP:0000939
6845	VAMP7	Decreased serum testosterone level	HP:0040171
6845	VAMP7	Abnormality of the scrotum	HP:0000045
6845	VAMP7	Hypospadias	HP:0000047
6845	VAMP7	Hypergonadotropic hypogonadism	HP:0000815
6845	VAMP7	Sparse pubic hair	HP:0002225
6845	VAMP7	Male infertility	HP:0003251
6845	VAMP7	Micropenis	HP:0000054
6845	VAMP7	Delayed puberty	HP:0000823
6845	VAMP7	Abnormality of the labia	HP:0000058
6845	VAMP7	Absence of secondary sex characteristics	HP:0008187
6845	VAMP7	Ambiguous genitalia	HP:0000062
6845	VAMP7	Delayed skeletal maturation	HP:0002750
55997	CFC1	Situs inversus totalis	HP:0001696
55997	CFC1	Left atrial isomerism	HP:0011537
55997	CFC1	Abdominal situs inversus	HP:0003363
55997	CFC1	Polysplenia	HP:0001748
55997	CFC1	Transposition of the great arteries	HP:0001669
55997	CFC1	Incomplete penetrance	HP:0003829
55997	CFC1	Intestinal malrotation	HP:0002566
55997	CFC1	Autosomal dominant inheritance	HP:0000006
55997	CFC1	Double outlet right ventricle	HP:0001719
55997	CFC1	Atrioventricular canal defect	HP:0006695
55997	CFC1	Mesocardia	HP:0011599
23229	ARHGEF9	Intellectual disability, severe	HP:0010864
23229	ARHGEF9	Seizures	HP:0001250
23229	ARHGEF9	Epileptic encephalopathy	HP:0200134
23229	ARHGEF9	Intellectual disability, progressive	HP:0006887
23229	ARHGEF9	Congenital onset	HP:0003577
23229	ARHGEF9	Exaggerated startle response	HP:0002267
23229	ARHGEF9	X-linked recessive inheritance	HP:0001419
23229	ARHGEF9	Hypertonia	HP:0001276
23230	VPS13A	EMG abnormality	HP:0003457
23230	VPS13A	Skeletal muscle atrophy	HP:0003202
23230	VPS13A	Drooling	HP:0002307
23230	VPS13A	Areflexia	HP:0001284
23230	VPS13A	Death in early adulthood	HP:0100613
23230	VPS13A	Ascites	HP:0001541
23230	VPS13A	Orofacial dyskinesia	HP:0002310
23230	VPS13A	Cataract	HP:0000518
23230	VPS13A	Autosomal recessive inheritance	HP:0000007
23230	VPS13A	Acanthocytosis	HP:0001927
23230	VPS13A	Gait disturbance	HP:0001288
23230	VPS13A	Parkinsonism	HP:0001300
23230	VPS13A	Chorea	HP:0002072
23230	VPS13A	Acute hepatic failure	HP:0006554
23230	VPS13A	Lymphadenopathy	HP:0002716
23230	VPS13A	Recurrent respiratory infections	HP:0002205
23230	VPS13A	Progressive choreoathetosis	HP:0007326
23230	VPS13A	Dysgraphia	HP:0010526
23230	VPS13A	Weight loss	HP:0001824
23230	VPS13A	Elevated serum creatine kinase	HP:0003236
23230	VPS13A	Caudate atrophy	HP:0002340
23230	VPS13A	Mood changes	HP:0001575
23230	VPS13A	Memory impairment	HP:0002354
23230	VPS13A	Dystonia	HP:0001332
23230	VPS13A	Abnormality of the thyroid gland	HP:0000820
23230	VPS13A	Abnormal urinary color	HP:0012086
23230	VPS13A	Difficulty in tongue movements	HP:0000183
23230	VPS13A	Sleep disturbance	HP:0002360
23230	VPS13A	Protruding tongue	HP:0010808
23230	VPS13A	Tremor	HP:0001337
23230	VPS13A	Self-mutilation of tongue and lips due to involuntary movements	HP:0008767
23230	VPS13A	Tics	HP:0100033
23230	VPS13A	Hepatomegaly	HP:0002240
23230	VPS13A	Feeding difficulties	HP:0011968
23230	VPS13A	Psychosis	HP:0000709
23230	VPS13A	Muscle fiber atrophy	HP:0100295
23230	VPS13A	Ventriculomegaly	HP:0002119
23230	VPS13A	Cerebral cortical atrophy	HP:0002120
23230	VPS13A	Developmental regression	HP:0002376
23230	VPS13A	Vasculitis	HP:0002633
23230	VPS13A	Aggressive behavior	HP:0000718
23230	VPS13A	Splenomegaly	HP:0001744
23230	VPS13A	Pallor	HP:0000980
23230	VPS13A	Dementia	HP:0000726
23230	VPS13A	Fatigue	HP:0012378
23230	VPS13A	Progressive	HP:0003676
23230	VPS13A	Disinhibition	HP:0000734
23230	VPS13A	Elevated hepatic transaminase	HP:0002910
23230	VPS13A	Dysphagia	HP:0002015
23230	VPS13A	Abnormality of the foot	HP:0001760
23230	VPS13A	Pes cavus	HP:0001761
23230	VPS13A	Nausea and vomiting	HP:0002017
23230	VPS13A	Seizures	HP:0001250
23230	VPS13A	Short stature	HP:0004322
23230	VPS13A	Anxiety	HP:0000739
23230	VPS13A	Ataxia	HP:0001251
23230	VPS13A	Abnormal bleeding	HP:0001892
23230	VPS13A	Muscular hypotonia	HP:0001252
23230	VPS13A	Peripheral neuropathy	HP:0009830
23230	VPS13A	Hypertrophic cardiomyopathy	HP:0001639
23230	VPS13A	Malabsorption	HP:0002024
23230	VPS13A	Limb muscle weakness	HP:0003690
23230	VPS13A	Attention deficit hyperactivity disorder	HP:0007018
23230	VPS13A	Abdominal pain	HP:0002027
23230	VPS13A	Dysarthria	HP:0001260
23230	VPS13A	Self-injurious behavior	HP:0100716
23230	VPS13A	Personality changes	HP:0000751
23230	VPS13A	Hyporeflexia	HP:0001265
23230	VPS13A	Abnormality of vision	HP:0000504
23230	VPS13A	Sensory neuropathy	HP:0000763
23230	VPS13A	Progressive distal muscular atrophy	HP:0008955
23230	VPS13A	Myopathy	HP:0003198
23230	VPS13A	Distal upper limb muscle weakness	HP:0008959
23230	VPS13A	Nystagmus	HP:0000639
170691	ADAMTS17	Myopia	HP:0000545
170691	ADAMTS17	Short stature	HP:0004322
170691	ADAMTS17	Ocular hypertension	HP:0007906
170691	ADAMTS17	Iridodonesis	HP:0100693
170691	ADAMTS17	Phakodonesis	HP:0012629
170691	ADAMTS17	Glaucoma	HP:0000501
170691	ADAMTS17	Autosomal recessive inheritance	HP:0000007
170691	ADAMTS17	Ectopia lentis	HP:0001083
23236	PLCB1	Abnormality of skin morphology	HP:0011121
23236	PLCB1	Hyperreflexia	HP:0001347
23236	PLCB1	Generalized-onset seizure	HP:0002197
23236	PLCB1	Epileptic encephalopathy	HP:0200134
23236	PLCB1	Infantile spasms	HP:0012469
23236	PLCB1	Autosomal recessive inheritance	HP:0000007
23236	PLCB1	Muscular hypotonia of the trunk	HP:0008936
23236	PLCB1	Developmental regression	HP:0002376
23236	PLCB1	Myoclonus	HP:0001336
23236	PLCB1	Spasticity	HP:0001257
23236	PLCB1	Hypsarrhythmia	HP:0002521
23236	PLCB1	Focal-onset seizure	HP:0007359
6853	SYN1	Macrocephaly	HP:0000256
6853	SYN1	Specific learning disability	HP:0001328
6853	SYN1	Seizures	HP:0001250
6853	SYN1	Autistic behavior	HP:0000729
6853	SYN1	X-linked recessive inheritance	HP:0001419
6853	SYN1	Aggressive behavior	HP:0000718
6853	SYN1	Focal-onset seizure	HP:0007359
6853	SYN1	X-linked dominant inheritance	HP:0001423
170692	ADAMTS18	Chorioretinal degeneration	HP:0200065
170692	ADAMTS18	Microcornea	HP:0000482
170692	ADAMTS18	Posteriorly rotated ears	HP:0000358
170692	ADAMTS18	Autosomal recessive inheritance	HP:0000007
170692	ADAMTS18	Broad nasal tip	HP:0000455
170692	ADAMTS18	Telecanthus	HP:0000506
170692	ADAMTS18	Posterior subcapsular cataract	HP:0007787
170692	ADAMTS18	Wide nose	HP:0000445
56006	SMG9	Wide anterior fontanel	HP:0000260
56006	SMG9	Autosomal recessive inheritance	HP:0000007
56006	SMG9	Generalized hypotonia	HP:0001290
56006	SMG9	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
56006	SMG9	Camptodactyly of finger	HP:0100490
56006	SMG9	Cerebral atrophy	HP:0002059
56006	SMG9	Delayed CNS myelination	HP:0002188
56006	SMG9	Prominent occiput	HP:0000269
56006	SMG9	Anteverted nares	HP:0000463
56006	SMG9	Hyperactive deep tendon reflexes	HP:0006801
56006	SMG9	High, narrow palate	HP:0002705
56006	SMG9	Prominent forehead	HP:0011220
56006	SMG9	Narrow forehead	HP:0000341
56006	SMG9	Dandy-Walker malformation	HP:0001305
56006	SMG9	Polyhydramnios	HP:0001561
56006	SMG9	Interrupted aortic arch	HP:0011611
56006	SMG9	Ventricular septal defect	HP:0001629
56006	SMG9	Hypoplasia of the corpus callosum	HP:0002079
56006	SMG9	Depressed nasal bridge	HP:0005280
56006	SMG9	Seizures	HP:0001250
56006	SMG9	Gastroesophageal reflux	HP:0002020
56006	SMG9	Hand clenching	HP:0001188
56006	SMG9	Growth delay	HP:0001510
56006	SMG9	Posteriorly rotated ears	HP:0000358
56006	SMG9	Muscular hypotonia of the trunk	HP:0008936
56006	SMG9	Cleft lip	HP:0410030
56006	SMG9	Everted lower lip vermilion	HP:0000232
56006	SMG9	Global brain atrophy	HP:0002283
56006	SMG9	Prominent metopic ridge	HP:0005487
56006	SMG9	Wide nasal bridge	HP:0000431
56006	SMG9	Global developmental delay	HP:0001263
56006	SMG9	Poor eye contact	HP:0000817
56006	SMG9	Low-set ears	HP:0000369
56006	SMG9	Thick lower lip vermilion	HP:0000179
56006	SMG9	Microphthalmia	HP:0000568
56006	SMG9	Visual impairment	HP:0000505
56006	SMG9	Abnormality of the pinna	HP:0000377
56006	SMG9	Microcephaly	HP:0000252
56006	SMG9	Hypertelorism	HP:0000316
219844	HYLS1	Omphalocele	HP:0001539
219844	HYLS1	Autosomal recessive inheritance	HP:0000007
219844	HYLS1	Bifid uterus	HP:0000136
219844	HYLS1	Gait disturbance	HP:0001288
219844	HYLS1	Hand polydactyly	HP:0001161
219844	HYLS1	Complete atrioventricular canal defect	HP:0001674
219844	HYLS1	Postaxial hand polydactyly	HP:0001162
219844	HYLS1	Abnormal vagina morphology	HP:0000142
219844	HYLS1	Anophthalmia	HP:0000528
219844	HYLS1	Oculomotor apraxia	HP:0000657
219844	HYLS1	Anencephaly	HP:0002323
219844	HYLS1	Abnormality of the fallopian tube	HP:0011027
219844	HYLS1	Long face	HP:0000276
219844	HYLS1	Retrognathia	HP:0000278
219844	HYLS1	Adrenal gland dysgenesis	HP:0008216
219844	HYLS1	Cleft in skull base	HP:0009752
219844	HYLS1	Preaxial hand polydactyly	HP:0001177
219844	HYLS1	Dandy-Walker malformation	HP:0001305
219844	HYLS1	Polyhydramnios	HP:0001561
219844	HYLS1	Agenesis of the diaphragm	HP:0008986
219844	HYLS1	Bifid nose	HP:0011803
219844	HYLS1	Cryptorchidism	HP:0000028
219844	HYLS1	Situs inversus totalis	HP:0001696
219844	HYLS1	Median cleft lip	HP:0000161
219844	HYLS1	Encephalocele	HP:0002084
219844	HYLS1	Foot polydactyly	HP:0001829
219844	HYLS1	Micromelia	HP:0002983
219844	HYLS1	Cerebellar vermis hypoplasia	HP:0001320
219844	HYLS1	Feeding difficulties in infancy	HP:0008872
219844	HYLS1	Prominent nasal bridge	HP:0000426
219844	HYLS1	Laryngeal hypoplasia	HP:0008749
219844	HYLS1	Hypospadias	HP:0000047
219844	HYLS1	Cleft palate	HP:0000175
219844	HYLS1	Submucous cleft hard palate	HP:0000176
219844	HYLS1	Absent septum pellucidum	HP:0001331
219844	HYLS1	Abnormal lung lobation	HP:0002101
219844	HYLS1	Microphthalmia	HP:0000568
219844	HYLS1	Abnormality of the sense of smell	HP:0004408
219844	HYLS1	Apnea	HP:0002104
219844	HYLS1	Tremor	HP:0001337
219844	HYLS1	Episodic tachypnea	HP:0002876
219844	HYLS1	Bifid uvula	HP:0000193
219844	HYLS1	Laryngomalacia	HP:0001601
219844	HYLS1	Biparietal narrowing	HP:0004422
219844	HYLS1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
219844	HYLS1	Oral cleft	HP:0000202
219844	HYLS1	Tracheal atresia	HP:0100682
219844	HYLS1	Aganglionic megacolon	HP:0002251
219844	HYLS1	Polymicrogyria	HP:0002126
219844	HYLS1	Anteverted nares	HP:0000463
219844	HYLS1	Duplication of phalanx of hallux	HP:0010066
219844	HYLS1	Accessory spleen	HP:0001747
219844	HYLS1	Premature birth	HP:0001622
219844	HYLS1	Abnormality of cardiovascular system morphology	HP:0030680
219844	HYLS1	Tracheal stenosis	HP:0002777
219844	HYLS1	Scoliosis	HP:0002650
219844	HYLS1	Arrhinencephaly	HP:0002139
219844	HYLS1	Micrognathia	HP:0000347
219844	HYLS1	Broad neck	HP:0000475
219844	HYLS1	Ventricular septal defect	HP:0001629
219844	HYLS1	Upper limb undergrowth	HP:0009824
219844	HYLS1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
219844	HYLS1	Intellectual disability	HP:0001249
219844	HYLS1	Talipes equinovarus	HP:0001762
219844	HYLS1	Severe hydrocephalus	HP:0006882
219844	HYLS1	Gingival cleft	HP:0030690
219844	HYLS1	Seizures	HP:0001250
219844	HYLS1	Ataxia	HP:0001251
219844	HYLS1	Iris coloboma	HP:0000612
219844	HYLS1	Muscular hypotonia	HP:0001252
219844	HYLS1	Strabismus	HP:0000486
219844	HYLS1	Intrauterine growth retardation	HP:0001511
219844	HYLS1	Abnormal cortical gyration	HP:0002536
219844	HYLS1	Gray matter heterotopia	HP:0002282
219844	HYLS1	Deeply set eye	HP:0000490
219844	HYLS1	Proximal tibial hypoplasia	HP:0006379
219844	HYLS1	Unilateral cleft lip	HP:0100333
219844	HYLS1	Hydrocephalus	HP:0000238
219844	HYLS1	Global developmental delay	HP:0001263
219844	HYLS1	Low-set, posteriorly rotated ears	HP:0000368
219844	HYLS1	Abnormal form of the vertebral bodies	HP:0003312
219844	HYLS1	Low-set ears	HP:0000369
219844	HYLS1	Stillbirth	HP:0003826
219844	HYLS1	Abnormality of the pinna	HP:0000377
219844	HYLS1	Highly arched eyebrow	HP:0002553
219844	HYLS1	Agenesis of corpus callosum	HP:0001274
219844	HYLS1	Ptosis	HP:0000508
219844	HYLS1	Hydronephrosis	HP:0000126
219844	HYLS1	Nystagmus	HP:0000639
6855	SYP	Intellectual disability	HP:0001249
6855	SYP	Seizures	HP:0001250
6855	SYP	X-linked dominant inheritance	HP:0001423
23241	PACS2	Delayed ability to walk	HP:0031936
23241	PACS2	Intellectual disability	HP:0001249
23241	PACS2	Myopia	HP:0000545
23241	PACS2	Seizures	HP:0001250
23241	PACS2	Astigmatism	HP:0000483
23241	PACS2	Epileptic encephalopathy	HP:0200134
23241	PACS2	Strabismus	HP:0000486
23241	PACS2	Enlarged cisterna magna	HP:0002280
23241	PACS2	Downslanted palpebral fissures	HP:0000494
23241	PACS2	Delayed speech and language development	HP:0000750
23241	PACS2	Global developmental delay	HP:0001263
23241	PACS2	Anemia	HP:0001903
23241	PACS2	Neutropenia	HP:0001875
23241	PACS2	Broad-based gait	HP:0002136
23241	PACS2	Synophrys	HP:0000664
23241	PACS2	Autistic behavior	HP:0000729
23241	PACS2	Wide mouth	HP:0000154
23241	PACS2	Downturned corners of mouth	HP:0002714
23241	PACS2	Thin upper lip vermilion	HP:0000219
23241	PACS2	Hypertelorism	HP:0000316
23241	PACS2	Hypermetropia	HP:0000540
23241	PACS2	Nystagmus	HP:0000639
6857	SYT1	Delayed ability to walk	HP:0031936
6857	SYT1	Feeding difficulties	HP:0011968
6857	SYT1	Ataxia	HP:0001251
6857	SYT1	Gastroesophageal reflux	HP:0002020
6857	SYT1	Strabismus	HP:0000486
6857	SYT1	Infantile onset	HP:0003593
6857	SYT1	Inability to walk	HP:0002540
6857	SYT1	Self-injurious behavior	HP:0100716
6857	SYT1	Global developmental delay	HP:0001263
6857	SYT1	EEG abnormality	HP:0002353
6857	SYT1	Choreoathetosis	HP:0001266
6857	SYT1	Dystonia	HP:0001332
6857	SYT1	Dyskinesia	HP:0100660
6857	SYT1	Prominent nasal tip	HP:0005274
6857	SYT1	Short nose	HP:0003196
6857	SYT1	High forehead	HP:0000348
6857	SYT1	Stereotypy	HP:0000733
6857	SYT1	Epicanthus	HP:0000286
6857	SYT1	Smooth philtrum	HP:0000319
6857	SYT1	Nystagmus	HP:0000639
6862	TBXT	Absence of the sacrum	HP:0010305
6862	TBXT	Autosomal recessive inheritance	HP:0000007
6862	TBXT	Congenital onset	HP:0003577
6862	TBXT	Abnormal vertebral morphology	HP:0003468
23247	KIAA0556	Autosomal recessive inheritance	HP:0000007
23247	KIAA0556	Gait disturbance	HP:0001288
23247	KIAA0556	Hand polydactyly	HP:0001161
23247	KIAA0556	Generalized hypotonia	HP:0001290
23247	KIAA0556	Central hypothyroidism	HP:0011787
23247	KIAA0556	Oculomotor apraxia	HP:0000657
23247	KIAA0556	Long face	HP:0000276
23247	KIAA0556	Inferior vermis hypoplasia	HP:0007068
23247	KIAA0556	Situs inversus totalis	HP:0001696
23247	KIAA0556	Encephalocele	HP:0002084
23247	KIAA0556	Foot polydactyly	HP:0001829
23247	KIAA0556	Cleft lip	HP:0410030
23247	KIAA0556	Cerebellar vermis hypoplasia	HP:0001320
23247	KIAA0556	Feeding difficulties in infancy	HP:0008872
23247	KIAA0556	Cerebellar hypoplasia	HP:0001321
23247	KIAA0556	Prominent nasal bridge	HP:0000426
23247	KIAA0556	Cleft palate	HP:0000175
23247	KIAA0556	Micropenis	HP:0000054
23247	KIAA0556	Growth hormone deficiency	HP:0000824
23247	KIAA0556	Apnea	HP:0002104
23247	KIAA0556	Tremor	HP:0001337
23247	KIAA0556	Hypertelorism	HP:0000316
23247	KIAA0556	Episodic tachypnea	HP:0002876
23247	KIAA0556	Biparietal narrowing	HP:0004422
23247	KIAA0556	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
23247	KIAA0556	Oral cleft	HP:0000202
23247	KIAA0556	Aganglionic megacolon	HP:0002251
23247	KIAA0556	Polymicrogyria	HP:0002126
23247	KIAA0556	Anteverted nares	HP:0000463
23247	KIAA0556	Frontal bossing	HP:0002007
23247	KIAA0556	Scoliosis	HP:0002650
23247	KIAA0556	Abnormality of the hypothalamus-pituitary axis	HP:0000864
23247	KIAA0556	Intellectual disability	HP:0001249
23247	KIAA0556	Short stature	HP:0004322
23247	KIAA0556	Seizures	HP:0001250
23247	KIAA0556	Ataxia	HP:0001251
23247	KIAA0556	Recurrent upper respiratory tract infections	HP:0002788
23247	KIAA0556	Iris coloboma	HP:0000612
23247	KIAA0556	Muscular hypotonia	HP:0001252
23247	KIAA0556	Strabismus	HP:0000486
23247	KIAA0556	Panhypopituitarism	HP:0000871
23247	KIAA0556	Hydrocephalus	HP:0000238
23247	KIAA0556	Global developmental delay	HP:0001263
23247	KIAA0556	Abnormal form of the vertebral bodies	HP:0003312
23247	KIAA0556	Low-set ears	HP:0000369
23247	KIAA0556	Congenital onset	HP:0003577
23247	KIAA0556	Highly arched eyebrow	HP:0002553
23247	KIAA0556	Ptosis	HP:0000508
23247	KIAA0556	Nystagmus	HP:0000639
64207	IRF2BPL	Intellectual disability	HP:0001249
64207	IRF2BPL	Seizures	HP:0001250
64207	IRF2BPL	Loss of speech	HP:0002371
64207	IRF2BPL	Developmental regression	HP:0002376
64207	IRF2BPL	Spasticity	HP:0001257
64207	IRF2BPL	Corpus callosum atrophy	HP:0007371
64207	IRF2BPL	Cerebral atrophy	HP:0002059
64207	IRF2BPL	Dysarthria	HP:0001260
64207	IRF2BPL	Global developmental delay	HP:0001263
64207	IRF2BPL	Choreoathetosis	HP:0001266
64207	IRF2BPL	Dystonia	HP:0001332
64207	IRF2BPL	Esotropia	HP:0000565
64207	IRF2BPL	Cerebellar atrophy	HP:0001272
64207	IRF2BPL	Progressive	HP:0003676
64207	IRF2BPL	Dysmetria	HP:0001310
64207	IRF2BPL	Nystagmus	HP:0000639
64207	IRF2BPL	Dysphagia	HP:0002015
162514	TRPV3	Hyperkeratosis	HP:0000962
162514	TRPV3	Neoplasm of the skin	HP:0008069
162514	TRPV3	Autosomal dominant inheritance	HP:0000006
162514	TRPV3	Sparse hair	HP:0008070
162514	TRPV3	Subungual hyperkeratosis	HP:0008392
162514	TRPV3	Anhidrosis	HP:0000970
162514	TRPV3	Parakeratosis	HP:0001036
162514	TRPV3	Hyperhidrosis	HP:0000975
162514	TRPV3	Opacification of the corneal stroma	HP:0007759
162514	TRPV3	Abnormal fingernail morphology	HP:0001231
162514	TRPV3	Skin fissure	HP:0031057
162514	TRPV3	Nail dystrophy	HP:0008404
162514	TRPV3	Palmoplantar keratoderma	HP:0000982
162514	TRPV3	Sensorineural hearing impairment	HP:0000407
162514	TRPV3	Flexion contracture	HP:0001371
162514	TRPV3	Hypodontia	HP:0000668
162514	TRPV3	Pruritus	HP:0000989
162514	TRPV3	Abnormality of the tongue	HP:0000157
162514	TRPV3	Carious teeth	HP:0000670
162514	TRPV3	Erythema	HP:0010783
162514	TRPV3	Seizures	HP:0001250
162514	TRPV3	Ankylosis	HP:0031013
162514	TRPV3	Abnormality of the gingiva	HP:0000168
162514	TRPV3	Skin ulcer	HP:0200042
162514	TRPV3	Osteolysis	HP:0002797
162514	TRPV3	Melanoma	HP:0002861
162514	TRPV3	Hypotrichosis	HP:0001006
162514	TRPV3	Neoplasm of the lung	HP:0100526
162514	TRPV3	Alopecia universalis	HP:0002289
162514	TRPV3	Palmoplantar hyperhidrosis	HP:0007410
162514	TRPV3	Nail dysplasia	HP:0002164
162514	TRPV3	Alopecia	HP:0001596
6866	TAC3	Abnormality of body height	HP:0000002
6866	TAC3	Gynecomastia	HP:0000771
6866	TAC3	Increased female libido	HP:0030019
6866	TAC3	Absence of pubertal development	HP:0008197
6866	TAC3	Female hypogonadism	HP:0000134
6866	TAC3	Eunuchoid habitus	HP:0003782
6866	TAC3	Autosomal recessive inheritance	HP:0000007
6866	TAC3	Abnormality of the voice	HP:0001608
6866	TAC3	Generalized joint laxity	HP:0002761
6866	TAC3	Anosmia	HP:0000458
6866	TAC3	Depressivity	HP:0000716
6866	TAC3	Hypoplasia of the uterus	HP:0000013
6866	TAC3	Congenital sensorineural hearing impairment	HP:0008527
6866	TAC3	Primary amenorrhea	HP:0000786
6866	TAC3	Wide intermamillary distance	HP:0006610
6866	TAC3	Hypoplasia of the ovary	HP:0008724
6866	TAC3	Male hypogonadism	HP:0000026
6866	TAC3	Cryptorchidism	HP:0000028
6866	TAC3	Decreased testicular size	HP:0008734
6866	TAC3	Depressed nasal bridge	HP:0005280
6866	TAC3	Camptodactyly	HP:0012385
6866	TAC3	Impotence	HP:0000802
6866	TAC3	Anxiety	HP:0000739
6866	TAC3	Abnormality of the dentition	HP:0000164
6866	TAC3	Secondary amenorrhea	HP:0000869
6866	TAC3	Intellectual disability, mild	HP:0001256
6866	TAC3	Osteopenia	HP:0000938
6866	TAC3	Osteoporosis	HP:0000939
6866	TAC3	Decreased serum testosterone level	HP:0040171
6866	TAC3	Hypogonadotrophic hypogonadism	HP:0000044
6866	TAC3	Cleft palate	HP:0000175
6866	TAC3	Breast hypoplasia	HP:0003187
6866	TAC3	Micropenis	HP:0000054
6866	TAC3	Sparse body hair	HP:0002231
6866	TAC3	Delayed puberty	HP:0000823
6866	TAC3	Non-obstructive azoospermia	HP:0011961
6866	TAC3	Absence of secondary sex characteristics	HP:0008187
6866	TAC3	Hypertelorism	HP:0000316
6866	TAC3	Delayed skeletal maturation	HP:0002750
23250	ATP11A	Gastroesophageal reflux	HP:0002020
23250	ATP11A	Clubbing of fingers	HP:0100759
23250	ATP11A	Honeycomb lung	HP:0025175
23250	ATP11A	Ground-glass opacification on pulmonary HRCT	HP:0025179
23250	ATP11A	Exertional dyspnea	HP:0002875
23250	ATP11A	Pulmonary insufficiency	HP:0010444
23250	ATP11A	Crackles	HP:0030830
23250	ATP11A	Pulmonary fibrosis	HP:0002206
23250	ATP11A	Bronchiectasis	HP:0002110
23250	ATP11A	Reticular pattern on pulmonary HRCT	HP:0025390
23250	ATP11A	Cough	HP:0012735
6868	ADAM17	Villous atrophy	HP:0011473
6868	ADAM17	Blepharitis	HP:0000498
6868	ADAM17	Pustule	HP:0200039
6868	ADAM17	Autosomal recessive inheritance	HP:0000007
6868	ADAM17	Eosinophilia	HP:0001880
6868	ADAM17	Paronychia	HP:0001818
6868	ADAM17	Erythroderma	HP:0001019
6868	ADAM17	Onychogryposis	HP:0001805
6868	ADAM17	Hematochezia	HP:0002573
6868	ADAM17	Erythema	HP:0010783
6870	TACR3	Ichthyosis	HP:0008064
6870	TACR3	Abnormality of body height	HP:0000002
6870	TACR3	Gynecomastia	HP:0000771
6870	TACR3	Absence of pubertal development	HP:0008197
6870	TACR3	Female hypogonadism	HP:0000134
6870	TACR3	Autosomal recessive inheritance	HP:0000007
6870	TACR3	Gait disturbance	HP:0001288
6870	TACR3	Hypoplasia of the uterus	HP:0000013
6870	TACR3	Decreased fertility	HP:0000144
6870	TACR3	Primary amenorrhea	HP:0000786
6870	TACR3	Hypoplasia of the ovary	HP:0008724
6870	TACR3	Sensorineural hearing impairment	HP:0000407
6870	TACR3	Male hypogonadism	HP:0000026
6870	TACR3	Cryptorchidism	HP:0000028
6870	TACR3	Decreased testicular size	HP:0008734
6870	TACR3	Erectile abnormalities	HP:0100639
6870	TACR3	Depressed nasal bridge	HP:0005280
6870	TACR3	Impotence	HP:0000802
6870	TACR3	Abnormality of the dentition	HP:0000164
6870	TACR3	Color vision defect	HP:0000551
6870	TACR3	Osteopenia	HP:0000938
6870	TACR3	Osteoporosis	HP:0000939
6870	TACR3	Hypogonadotrophic hypogonadism	HP:0000044
6870	TACR3	Muscle weakness	HP:0001324
6870	TACR3	Cleft palate	HP:0000175
6870	TACR3	Microphallus	HP:0030260
6870	TACR3	Micropenis	HP:0000054
6870	TACR3	Paraplegia	HP:0010550
6870	TACR3	Delayed puberty	HP:0000823
6870	TACR3	Bimanual synkinesia	HP:0001335
6870	TACR3	Sparse body hair	HP:0002231
6870	TACR3	Tremor	HP:0001337
6870	TACR3	Hyposmia	HP:0004409
6870	TACR3	Non-obstructive azoospermia	HP:0011961
6870	TACR3	Hypertelorism	HP:0000316
6870	TACR3	Delayed skeletal maturation	HP:0002750
6870	TACR3	Anterior hypopituitarism	HP:0000830
6870	TACR3	Dyspareunia	HP:0030016
6870	TACR3	Increased female libido	HP:0030019
6870	TACR3	Recurrent fractures	HP:0002757
6870	TACR3	Eunuchoid habitus	HP:0003782
6870	TACR3	Abnormality of the voice	HP:0001608
6870	TACR3	Generalized joint laxity	HP:0002761
6870	TACR3	Anosmia	HP:0000458
6870	TACR3	Reduced number of teeth	HP:0009804
6870	TACR3	Depressivity	HP:0000716
6870	TACR3	Congenital sensorineural hearing impairment	HP:0008527
6870	TACR3	Wide intermamillary distance	HP:0006610
6870	TACR3	Abnormality of cardiovascular system morphology	HP:0030680
6870	TACR3	Skeletal dysplasia	HP:0002652
6870	TACR3	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
6870	TACR3	Pes cavus	HP:0001761
6870	TACR3	Camptodactyly	HP:0012385
6870	TACR3	Seizures	HP:0001250
6870	TACR3	Ataxia	HP:0001251
6870	TACR3	Pes planus	HP:0001763
6870	TACR3	Anxiety	HP:0000739
6870	TACR3	Muscular hypotonia	HP:0001252
6870	TACR3	Secondary amenorrhea	HP:0000869
6870	TACR3	Renal agenesis	HP:0000104
6870	TACR3	Obesity	HP:0001513
6870	TACR3	Decreased serum testosterone level	HP:0040171
6870	TACR3	Dysarthria	HP:0001260
6870	TACR3	Breast hypoplasia	HP:0003187
6870	TACR3	Visual impairment	HP:0000505
6870	TACR3	Absence of secondary sex characteristics	HP:0008187
6870	TACR3	Ptosis	HP:0000508
6870	TACR3	Reduced bone mineral density	HP:0004349
6870	TACR3	Nystagmus	HP:0000639
6872	TAF1	Proptosis	HP:0000520
6872	TAF1	Generalized hypotonia	HP:0001290
6872	TAF1	Resting tremor	HP:0002322
6872	TAF1	Bradykinesia	HP:0002067
6872	TAF1	Long face	HP:0000276
6872	TAF1	Prominent protruding coccyx	HP:0008472
6872	TAF1	Torsion dystonia	HP:0001304
6872	TAF1	Chorea	HP:0002072
6872	TAF1	Hypoplasia of the corpus callosum	HP:0002079
6872	TAF1	Aplasia cutis congenita	HP:0001057
6872	TAF1	Myopia	HP:0000545
6872	TAF1	Reduced tendon reflexes	HP:0001315
6872	TAF1	Cerebellar vermis hypoplasia	HP:0001320
6872	TAF1	Cerebellar hypoplasia	HP:0001321
6872	TAF1	Broad chin	HP:0011822
6872	TAF1	Pointed chin	HP:0000307
6872	TAF1	Difficulty walking	HP:0002355
6872	TAF1	Dystonia	HP:0001332
6872	TAF1	Microretrognathia	HP:0000308
6872	TAF1	Frequent falls	HP:0002359
6872	TAF1	Protruding tongue	HP:0010808
6872	TAF1	Myoclonus	HP:0001336
6872	TAF1	Tremor	HP:0001337
6872	TAF1	Shuffling gait	HP:0002362
6872	TAF1	Hypertelorism	HP:0000316
6872	TAF1	Nasolacrimal duct obstruction	HP:0000579
6872	TAF1	Sleep-wake cycle disturbance	HP:0006979
6872	TAF1	Ventriculomegaly	HP:0002119
6872	TAF1	Hand tremor	HP:0002378
6872	TAF1	Prominent supraorbital ridges	HP:0000336
6872	TAF1	Prominent coccyx	HP:0040016
6872	TAF1	Long philtrum	HP:0000343
6872	TAF1	Talipes cavus equinovarus	HP:0004696
6872	TAF1	Scoliosis	HP:0002650
6872	TAF1	Flat occiput	HP:0005469
6872	TAF1	Gait imbalance	HP:0002141
6872	TAF1	Joint hypermobility	HP:0001382
6872	TAF1	Hip dysplasia	HP:0001385
6872	TAF1	Attention deficit hyperactivity disorder	HP:0007018
6872	TAF1	Hearing impairment	HP:0000365
6872	TAF1	Laryngeal stridor	HP:0006511
6872	TAF1	Low-set ears	HP:0000369
6872	TAF1	Postural instability	HP:0002172
6872	TAF1	Nystagmus	HP:0000639
6872	TAF1	Blepharospasm	HP:0000643
6872	TAF1	Chronic otitis media	HP:0000389
6872	TAF1	Sparse hair	HP:0008070
6872	TAF1	Thickened helices	HP:0000391
6872	TAF1	X-linked recessive inheritance	HP:0001419
6872	TAF1	Macrotia	HP:0000400
6872	TAF1	High, narrow palate	HP:0002705
6872	TAF1	Caesarian section	HP:0011410
6872	TAF1	Delayed gross motor development	HP:0002194
6872	TAF1	Limb dystonia	HP:0002451
6872	TAF1	Short digit	HP:0011927
6872	TAF1	Synophrys	HP:0000664
6872	TAF1	Protruding ear	HP:0000411
6872	TAF1	Bulbous nose	HP:0000414
6872	TAF1	Thickened ears	HP:0009894
6872	TAF1	Osteopenia	HP:0000938
6872	TAF1	Aspiration pneumonia	HP:0011951
6872	TAF1	Depressed nasal tip	HP:0000437
6872	TAF1	Impaired oropharyngeal swallow response	HP:0031162
6872	TAF1	Toenail dysplasia	HP:0100797
6872	TAF1	Sacral dimple	HP:0000960
6872	TAF1	Postnatal growth retardation	HP:0008897
6872	TAF1	Eczema	HP:0000964
6872	TAF1	Broad nasal tip	HP:0000455
6872	TAF1	Oral-pharyngeal dysphagia	HP:0200136
6872	TAF1	Abnormality of the septum pellucidum	HP:0007375
6872	TAF1	Prominent forehead	HP:0011220
6872	TAF1	Short neck	HP:0000470
6872	TAF1	Autistic behavior	HP:0000729
6872	TAF1	Thin upper lip vermilion	HP:0000219
6872	TAF1	Intellectual disability	HP:0001249
6872	TAF1	Seizures	HP:0001250
6872	TAF1	Anxiety	HP:0000739
6872	TAF1	Ataxia	HP:0001251
6872	TAF1	Constipation	HP:0002019
6872	TAF1	Gastroesophageal reflux	HP:0002020
6872	TAF1	Strabismus	HP:0000486
6872	TAF1	Intrauterine growth retardation	HP:0001511
6872	TAF1	Deeply set eye	HP:0000490
6872	TAF1	Delayed speech and language development	HP:0000750
6872	TAF1	Downslanted palpebral fissures	HP:0000494
6872	TAF1	Global developmental delay	HP:0001263
6872	TAF1	Hirsutism	HP:0001007
6872	TAF1	Spastic diplegia	HP:0001264
6872	TAF1	Abnormality of eye movement	HP:0000496
6872	TAF1	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
6872	TAF1	Progressive extrapyramidal muscular rigidity	HP:0007158
6872	TAF1	Cerebellar atrophy	HP:0001272
6872	TAF1	Kyphosis	HP:0002808
6872	TAF1	Congenital onset	HP:0003577
6872	TAF1	Microcephaly	HP:0000252
6872	TAF1	Adult onset	HP:0003581
6872	TAF1	Pectus excavatum	HP:0000767
6873	TAF2	Abnormality of the foot	HP:0001760
6873	TAF2	Delayed myelination	HP:0012448
6873	TAF2	Intellectual disability	HP:0001249
6873	TAF2	Poor speech	HP:0002465
6873	TAF2	Hyperreflexia	HP:0001347
6873	TAF2	Autosomal recessive inheritance	HP:0000007
6873	TAF2	Spasticity	HP:0001257
6873	TAF2	Postnatal microcephaly	HP:0005484
6873	TAF2	Global developmental delay	HP:0001263
6873	TAF2	Bicuspid aortic valve	HP:0001647
6873	TAF2	Babinski sign	HP:0003487
6873	TAF2	Nystagmus	HP:0000639
6873	TAF2	Hypoplasia of the corpus callosum	HP:0002079
23258	DENND5A	Absent speech	HP:0001344
23258	DENND5A	Profound global developmental delay	HP:0012736
23258	DENND5A	Prominent nose	HP:0000448
23258	DENND5A	Short philtrum	HP:0000322
23258	DENND5A	Seizures	HP:0001250
23258	DENND5A	Open mouth	HP:0000194
23258	DENND5A	Hyperreflexia	HP:0001347
23258	DENND5A	Epileptic encephalopathy	HP:0200134
23258	DENND5A	Optic atrophy	HP:0000648
23258	DENND5A	Spasticity	HP:0001257
23258	DENND5A	Hydrocephalus	HP:0000238
23258	DENND5A	Long eyelashes	HP:0000527
23258	DENND5A	EEG abnormality	HP:0002353
23258	DENND5A	Cerebral calcification	HP:0002514
23258	DENND5A	Thick upper lip vermilion	HP:0000215
23258	DENND5A	Frontal bossing	HP:0002007
23258	DENND5A	Coarse facial features	HP:0000280
23258	DENND5A	Myoclonus	HP:0001336
23258	DENND5A	Dandy-Walker malformation	HP:0001305
64218	SEMA4A	Abnormal electroretinogram	HP:0000512
64218	SEMA4A	Hyperreflexia	HP:0001347
64218	SEMA4A	Cataract	HP:0000518
64218	SEMA4A	Epiphora	HP:0009926
64218	SEMA4A	Autosomal dominant inheritance	HP:0000006
64218	SEMA4A	Hypogonadism	HP:0000135
64218	SEMA4A	Autosomal recessive inheritance	HP:0000007
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	Abnormality of retinal pigmentation	HP:0007703
64218	SEMA4A	Sensorineural hearing impairment	HP:0000407
64218	SEMA4A	Ophthalmoplegia	HP:0000602
64218	SEMA4A	Type II diabetes mellitus	HP:0005978
64218	SEMA4A	Atypical scarring of skin	HP:0000987
64218	SEMA4A	Hypoplasia of penis	HP:0008736
64218	SEMA4A	Macular degeneration	HP:0000608
64218	SEMA4A	Intellectual disability	HP:0001249
64218	SEMA4A	Abnormal testis morphology	HP:0000035
64218	SEMA4A	Cone/cone-rod dystrophy	HP:0000548
64218	SEMA4A	Photophobia	HP:0000613
64218	SEMA4A	Color vision defect	HP:0000551
64218	SEMA4A	Abnormality of skin pigmentation	HP:0001000
64218	SEMA4A	Obesity	HP:0001513
64218	SEMA4A	Blindness	HP:0000618
64218	SEMA4A	Abnormal retinal vascular morphology	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
6875	TAF4B	Increased circulating gonadotropin level	HP:0000837
6875	TAF4B	Autosomal recessive inheritance	HP:0000007
6875	TAF4B	Non-obstructive azoospermia	HP:0011961
6875	TAF4B	Obstructive azoospermia	HP:0011962
6875	TAF4B	Azoospermia	HP:0000027
6875	TAF4B	Decreased testicular size	HP:0008734
23259	DDHD2	Hyperreflexia	HP:0001347
23259	DDHD2	Autosomal recessive inheritance	HP:0000007
23259	DDHD2	Spastic gait	HP:0002064
23259	DDHD2	Urinary incontinence	HP:0000020
23259	DDHD2	Optic disc hypoplasia	HP:0007766
23259	DDHD2	Abnormality of the periventricular white matter	HP:0002518
23259	DDHD2	High palate	HP:0000218
23259	DDHD2	Progressive	HP:0003676
23259	DDHD2	Hypoplasia of the corpus callosum	HP:0002079
23259	DDHD2	Dysphagia	HP:0002015
23259	DDHD2	Babinski sign	HP:0003487
23259	DDHD2	Intellectual disability	HP:0001249
23259	DDHD2	Optic nerve hypoplasia	HP:0000609
23259	DDHD2	Short stature	HP:0004322
23259	DDHD2	Tip-toe gait	HP:0030051
23259	DDHD2	Constipation	HP:0002019
23259	DDHD2	Strabismus	HP:0000486
23259	DDHD2	Spastic paraplegia	HP:0001258
23259	DDHD2	Periventricular white matter hyperdensities	HP:0030891
23259	DDHD2	Dysarthria	HP:0001260
23259	DDHD2	Lower limb muscle weakness	HP:0007340
23259	DDHD2	Contractures involving the joints of the feet	HP:0008366
23259	DDHD2	Global developmental delay	HP:0001263
23259	DDHD2	Bowel incontinence	HP:0002607
23259	DDHD2	Periventricular leukomalacia	HP:0006970
23259	DDHD2	Telecanthus	HP:0000506
64220	STRA6	Abnormality of the uterus	HP:0000130
64220	STRA6	Duodenal stenosis	HP:0100867
64220	STRA6	Autosomal recessive inheritance	HP:0000007
64220	STRA6	Congenital diaphragmatic hernia	HP:0000776
64220	STRA6	Generalized hypotonia	HP:0001290
64220	STRA6	Intellectual disability, profound	HP:0002187
64220	STRA6	Hypoplasia of the uterus	HP:0000013
64220	STRA6	Anophthalmia	HP:0000528
64220	STRA6	Coarctation of aorta	HP:0001680
64220	STRA6	Diaphragmatic eventration	HP:0009110
64220	STRA6	Inguinal hernia	HP:0000023
64220	STRA6	Cryptorchidism	HP:0000028
64220	STRA6	Hypoplastic left atrium	HP:0005156
64220	STRA6	Pulmonary hypoplasia	HP:0002089
64220	STRA6	Bicornuate uterus	HP:0000813
64220	STRA6	Respiratory insufficiency	HP:0002093
64220	STRA6	Wide nasal bridge	HP:0000431
64220	STRA6	Microphthalmia	HP:0000568
64220	STRA6	Bilateral lung agenesis	HP:0005944
64220	STRA6	Agenesis of pulmonary vessels	HP:0005311
64220	STRA6	Abnormal spleen morphology	HP:0025408
64220	STRA6	Aplasia/Hypoplasia of the pancreas	HP:0100800
64220	STRA6	Right aortic arch with mirror image branching	HP:0002627
64220	STRA6	Blepharophimosis	HP:0000581
64220	STRA6	Annular pancreas	HP:0001734
64220	STRA6	Pulmonary artery atresia	HP:0004935
64220	STRA6	Vesicoureteral reflux	HP:0000076
64220	STRA6	Bilateral microphthalmos	HP:0007633
64220	STRA6	Horseshoe kidney	HP:0000085
64220	STRA6	Single ventricle	HP:0001750
64220	STRA6	Abnormality of cardiovascular system morphology	HP:0030680
64220	STRA6	Renal hypoplasia	HP:0000089
64220	STRA6	Micrognathia	HP:0000347
64220	STRA6	Ventricular septal defect	HP:0001629
64220	STRA6	Atrial septal defect	HP:0001631
64220	STRA6	Intellectual disability	HP:0001249
64220	STRA6	Short stature	HP:0004322
64220	STRA6	Failure to thrive	HP:0001508
64220	STRA6	Muscular hypotonia	HP:0001252
64220	STRA6	Tetralogy of Fallot	HP:0001636
64220	STRA6	Intrauterine growth retardation	HP:0001511
64220	STRA6	Renal malrotation	HP:0004712
64220	STRA6	Pulmonic stenosis	HP:0001642
64220	STRA6	Patent ductus arteriosus	HP:0001643
64220	STRA6	Low-set ears	HP:0000369
64220	STRA6	Truncus arteriosus	HP:0001660
64220	STRA6	Pelvic kidney	HP:0000125
64220	STRA6	Hypoplastic spleen	HP:0006270
64220	STRA6	Hydronephrosis	HP:0000126
23261	CAMTA1	Macrocephaly	HP:0000256
23261	CAMTA1	Short ear	HP:0400005
23261	CAMTA1	Brisk reflexes	HP:0001348
23261	CAMTA1	Autosomal dominant inheritance	HP:0000006
23261	CAMTA1	Cerebral cortical atrophy	HP:0002120
23261	CAMTA1	Unsteady gait	HP:0002317
23261	CAMTA1	Aggressive behavior	HP:0000718
23261	CAMTA1	Anteverted nares	HP:0000463
23261	CAMTA1	Broad forehead	HP:0000337
23261	CAMTA1	Abnormal social behavior	HP:0012433
23261	CAMTA1	Large forehead	HP:0002003
23261	CAMTA1	Long face	HP:0000276
23261	CAMTA1	Long philtrum	HP:0000343
23261	CAMTA1	Abnormal pyramidal sign	HP:0007256
23261	CAMTA1	Autistic behavior	HP:0000729
23261	CAMTA1	Protruding ear	HP:0000411
23261	CAMTA1	Dysmetria	HP:0001310
23261	CAMTA1	Bulbous nose	HP:0000414
23261	CAMTA1	Narrow mouth	HP:0000160
23261	CAMTA1	Intention tremor	HP:0002080
23261	CAMTA1	Seizures	HP:0001250
23261	CAMTA1	Poor motor coordination	HP:0002275
23261	CAMTA1	Constipation	HP:0002019
23261	CAMTA1	Gastroesophageal reflux	HP:0002020
23261	CAMTA1	Strabismus	HP:0000486
23261	CAMTA1	Nonprogressive cerebellar ataxia	HP:0002470
23261	CAMTA1	Neonatal hypotonia	HP:0001319
23261	CAMTA1	Segmental myoclonic seizures	HP:0025191
23261	CAMTA1	Intellectual disability, mild	HP:0001256
23261	CAMTA1	Abnormal cortical gyration	HP:0002536
23261	CAMTA1	Cerebellar hypoplasia	HP:0001321
23261	CAMTA1	Deeply set eye	HP:0000490
23261	CAMTA1	Dysarthria	HP:0001260
23261	CAMTA1	Hypoplastic hippocampus	HP:0025517
23261	CAMTA1	Downslanted palpebral fissures	HP:0000494
23261	CAMTA1	Delayed speech and language development	HP:0000750
23261	CAMTA1	Global developmental delay	HP:0001263
23261	CAMTA1	Hyperactivity	HP:0000752
23261	CAMTA1	Low-set ears	HP:0000369
23261	CAMTA1	Memory impairment	HP:0002354
23261	CAMTA1	Pointed chin	HP:0000307
23261	CAMTA1	Thick lower lip vermilion	HP:0000179
23261	CAMTA1	Mesiodens	HP:0011067
23261	CAMTA1	Hypertelorism	HP:0000316
23261	CAMTA1	Hippocampal atrophy	HP:0410170
23261	CAMTA1	Palpebral edema	HP:0100540
23261	CAMTA1	Wide nose	HP:0000445
64221	ROBO3	Thoracolumbar scoliosis	HP:0002944
64221	ROBO3	Progressive ophthalmoplegia	HP:0007650
64221	ROBO3	Seizures	HP:0001250
64221	ROBO3	Autosomal recessive inheritance	HP:0000007
64221	ROBO3	Horizontal supranuclear gaze palsy	HP:0007817
64221	ROBO3	Cerebellar hypoplasia	HP:0001321
64221	ROBO3	Hypoplasia of the pons	HP:0012110
64221	ROBO3	Short neck	HP:0000470
64221	ROBO3	Sensorineural hearing impairment	HP:0000407
64221	ROBO3	Kyphosis	HP:0002808
64221	ROBO3	Congenital onset	HP:0003577
64221	ROBO3	Scoliosis	HP:0002650
64221	ROBO3	Cognitive impairment	HP:0100543
64221	ROBO3	Nystagmus	HP:0000639
6878	TAF6	Narrow mouth	HP:0000160
6878	TAF6	Prominent nose	HP:0000448
6878	TAF6	Poor speech	HP:0002465
6878	TAF6	Intellectual disability	HP:0001249
6878	TAF6	Short stature	HP:0004322
6878	TAF6	Dental crowding	HP:0000678
6878	TAF6	Low anterior hairline	HP:0000294
6878	TAF6	Autosomal recessive inheritance	HP:0000007
6878	TAF6	Broad hallux	HP:0010055
6878	TAF6	Neonatal hypotonia	HP:0001319
6878	TAF6	Prominent nasal bridge	HP:0000426
6878	TAF6	Underdeveloped nasal alae	HP:0000430
6878	TAF6	Long eyelashes	HP:0000527
6878	TAF6	Global developmental delay	HP:0001263
6878	TAF6	Hirsutism	HP:0001007
6878	TAF6	Hyperactivity	HP:0000752
6878	TAF6	Long philtrum	HP:0000343
6878	TAF6	Synophrys	HP:0000664
6878	TAF6	Highly arched eyebrow	HP:0002553
6878	TAF6	High palate	HP:0000218
6878	TAF6	Thin upper lip vermilion	HP:0000219
6878	TAF6	Microcephaly	HP:0000252
6878	TAF6	Cryptorchidism	HP:0000028
6878	TAF6	Thick eyebrow	HP:0000574
6884	TAF13	Delayed myelination	HP:0012448
6884	TAF13	Short stature	HP:0004322
6884	TAF13	Hyperreflexia	HP:0001347
6884	TAF13	Hypoplasia of the frontal lobes	HP:0007333
6884	TAF13	Upslanted palpebral fissure	HP:0000582
6884	TAF13	Autosomal recessive inheritance	HP:0000007
6884	TAF13	Ventriculomegaly	HP:0002119
6884	TAF13	Intellectual disability, mild	HP:0001256
6884	TAF13	Gray matter heterotopia	HP:0002282
6884	TAF13	Vesicoureteral reflux	HP:0000076
6884	TAF13	Small for gestational age	HP:0001518
6884	TAF13	Global developmental delay	HP:0001263
6884	TAF13	Intellectual disability, severe	HP:0010864
6884	TAF13	Variable expressivity	HP:0003828
6884	TAF13	Sloping forehead	HP:0000340
6884	TAF13	Pachygyria	HP:0001302
6884	TAF13	Delayed puberty	HP:0000823
6884	TAF13	Unilateral renal agenesis	HP:0000122
6884	TAF13	Agenesis of corpus callosum	HP:0001274
6884	TAF13	Thin upper lip vermilion	HP:0000219
6884	TAF13	Microcephaly	HP:0000252
6884	TAF13	Delayed skeletal maturation	HP:0002750
6884	TAF13	Abnormal cortical bone morphology	HP:0003103
6885	MAP3K7	Posterior vertebral hypoplasia	HP:0008451
6885	MAP3K7	Autosomal dominant inheritance	HP:0000006
6885	MAP3K7	Neurogenic bladder	HP:0000011
6885	MAP3K7	Dislocated radial head	HP:0003083
6885	MAP3K7	Ulnar deviation of the hand	HP:0009487
6885	MAP3K7	Irregular metacarpals	HP:0006160
6885	MAP3K7	Cryptorchidism	HP:0000028
6885	MAP3K7	Decreased testicular size	HP:0008734
6885	MAP3K7	Full cheeks	HP:0000293
6885	MAP3K7	Low anterior hairline	HP:0000294
6885	MAP3K7	Atrioventricular canal defect	HP:0006695
6885	MAP3K7	Hypoplasia of the musculature	HP:0009004
6885	MAP3K7	Pointed chin	HP:0000307
6885	MAP3K7	Delayed puberty	HP:0000823
6885	MAP3K7	Hypertelorism	HP:0000316
6885	MAP3K7	Thick eyebrow	HP:0000574
6885	MAP3K7	Short metacarpal	HP:0010049
6885	MAP3K7	Short philtrum	HP:0000322
6885	MAP3K7	Stridor	HP:0010307
6885	MAP3K7	Upslanted palpebral fissure	HP:0000582
6885	MAP3K7	Ureteral stenosis	HP:0000071
6885	MAP3K7	Subglottic stenosis	HP:0001607
6885	MAP3K7	Reduced number of teeth	HP:0009804
6885	MAP3K7	Vesicoureteral reflux	HP:0000076
6885	MAP3K7	Absent/hypoplastic paranasal sinuses	HP:0005453
6885	MAP3K7	Congenital sensorineural hearing impairment	HP:0008527
6885	MAP3K7	Prominent supraorbital ridges	HP:0000336
6885	MAP3K7	Blue sclerae	HP:0000592
6885	MAP3K7	Abnormality of dental morphology	HP:0006482
6885	MAP3K7	Craniosynostosis	HP:0001363
6885	MAP3K7	Cone-shaped epiphysis	HP:0010579
6885	MAP3K7	Finger clinodactyly	HP:0040019
6885	MAP3K7	Horseshoe kidney	HP:0000085
6885	MAP3K7	Bowing of the long bones	HP:0006487
6885	MAP3K7	Long philtrum	HP:0000343
6885	MAP3K7	Pseudoepiphyses	HP:0010584
6885	MAP3K7	Scoliosis	HP:0002650
6885	MAP3K7	Micrognathia	HP:0000347
6885	MAP3K7	Congenital hip dislocation	HP:0001374
6885	MAP3K7	Camptodactyly	HP:0012385
6885	MAP3K7	Mitral valve prolapse	HP:0001634
6885	MAP3K7	Posteriorly rotated ears	HP:0000358
6885	MAP3K7	Pulmonic stenosis	HP:0001642
6885	MAP3K7	Joint stiffness	HP:0001387
6885	MAP3K7	Patent ductus arteriosus	HP:0001643
6885	MAP3K7	Joint laxity	HP:0001388
6885	MAP3K7	Bicuspid aortic valve	HP:0001647
6885	MAP3K7	Low-set ears	HP:0000369
6885	MAP3K7	Mitral regurgitation	HP:0001653
6885	MAP3K7	Short distal phalanx of hallux	HP:0010103
6885	MAP3K7	Patent foramen ovale	HP:0001655
6885	MAP3K7	Abnormality of the pinna	HP:0000377
6885	MAP3K7	Hydronephrosis	HP:0000126
6885	MAP3K7	Decreased muscle mass	HP:0003199
6885	MAP3K7	Brachydactyly	HP:0001156
6885	MAP3K7	Fused cervical vertebrae	HP:0002949
6885	MAP3K7	Rib fusion	HP:0000902
6885	MAP3K7	Camptodactyly of finger	HP:0100490
6885	MAP3K7	Craniofacial hyperostosis	HP:0004493
6885	MAP3K7	High, narrow palate	HP:0002705
6885	MAP3K7	Recurrent otitis media	HP:0000403
6885	MAP3K7	Conductive hearing impairment	HP:0000405
6885	MAP3K7	Sensorineural hearing impairment	HP:0000407
6885	MAP3K7	Depressed nasal bridge	HP:0005280
6885	MAP3K7	Abnormality of the dentition	HP:0000164
6885	MAP3K7	Feeding difficulties in infancy	HP:0008872
6885	MAP3K7	Synostosis of carpals/tarsals	HP:0100266
6885	MAP3K7	Wide nasal bridge	HP:0000431
6885	MAP3K7	Cleft palate	HP:0000175
6885	MAP3K7	Abnormality of the metaphysis	HP:0000944
6885	MAP3K7	Tarsal synostosis	HP:0008368
6885	MAP3K7	Short distal phalanx of the thumb	HP:0009650
6885	MAP3K7	Misalignment of teeth	HP:0000692
6885	MAP3K7	Severe short stature	HP:0003510
6885	MAP3K7	Ulcerative colitis	HP:0100279
6885	MAP3K7	Short palm	HP:0004279
6885	MAP3K7	Synostosis of carpal bones	HP:0005048
6885	MAP3K7	Delayed skeletal maturation	HP:0002750
6885	MAP3K7	Feeding difficulties	HP:0011968
6885	MAP3K7	Bifid uvula	HP:0000193
6885	MAP3K7	Long fingers	HP:0100807
6885	MAP3K7	Broad nasal tip	HP:0000455
6885	MAP3K7	Freckling	HP:0001480
6885	MAP3K7	Pierre-Robin sequence	HP:0000201
6885	MAP3K7	Hip contracture	HP:0003273
6885	MAP3K7	Anteverted nares	HP:0000463
6885	MAP3K7	Failure of eruption of permanent teeth	HP:0006352
6885	MAP3K7	Webbed neck	HP:0000465
6885	MAP3K7	Deep philtrum	HP:0002002
6885	MAP3K7	Urethral stenosis	HP:0008661
6885	MAP3K7	Tracheal stenosis	HP:0002777
6885	MAP3K7	High palate	HP:0000218
6885	MAP3K7	Abnormality of the eye	HP:0000478
6885	MAP3K7	Elbow dislocation	HP:0003042
6885	MAP3K7	Short stature	HP:0004322
6885	MAP3K7	Talipes equinovarus	HP:0001762
6885	MAP3K7	Gastroesophageal reflux	HP:0002020
6885	MAP3K7	Failure to thrive	HP:0001508
6885	MAP3K7	Pyloric stenosis	HP:0002021
6885	MAP3K7	Strabismus	HP:0000486
6885	MAP3K7	Carpal synostosis	HP:0009702
6885	MAP3K7	Intellectual disability, mild	HP:0001256
6885	MAP3K7	Short foot	HP:0001773
6885	MAP3K7	Downslanted palpebral fissures	HP:0000494
6885	MAP3K7	Hirsutism	HP:0001007
6885	MAP3K7	Accelerated skeletal maturation	HP:0005616
6885	MAP3K7	Abnormal form of the vertebral bodies	HP:0003312
6885	MAP3K7	Short metatarsal	HP:0010743
6885	MAP3K7	Ulnar deviation of finger	HP:0009465
6885	MAP3K7	Telecanthus	HP:0000506
6885	MAP3K7	Long metacarpals	HP:0010493
6885	MAP3K7	Pectus excavatum	HP:0000767
6886	TAL1	Acute lymphoblastic leukemia	HP:0006721
6886	TAL1	Polygenic inheritance	HP:0010982
6887	TAL2	Acute lymphoblastic leukemia	HP:0006721
6887	TAL2	Polygenic inheritance	HP:0010982
6888	TALDO1	Hepatomegaly	HP:0002240
6888	TALDO1	Short philtrum	HP:0000322
6888	TALDO1	Decreased liver function	HP:0001410
6888	TALDO1	Biventricular hypertrophy	HP:0200128
6888	TALDO1	Wide anterior fontanel	HP:0000260
6888	TALDO1	Triangular face	HP:0000325
6888	TALDO1	Micronodular cirrhosis	HP:0001413
6888	TALDO1	Premature skin wrinkling	HP:0100678
6888	TALDO1	Autosomal recessive inheritance	HP:0000007
6888	TALDO1	Abnormality of the kidney	HP:0000077
6888	TALDO1	Abnormal facial shape	HP:0001999
6888	TALDO1	Coarctation of aorta	HP:0001680
6888	TALDO1	Splenomegaly	HP:0001744
6888	TALDO1	Thrombocytopenia	HP:0001873
6888	TALDO1	Deep philtrum	HP:0002002
6888	TALDO1	Pancytopenia	HP:0001876
6888	TALDO1	Abnormal circulating glutamine concentration	HP:0010903
6888	TALDO1	Synophrys	HP:0000664
6888	TALDO1	Hepatosplenomegaly	HP:0001433
6888	TALDO1	Clitoral hypertrophy	HP:0008665
6888	TALDO1	Oligohydramnios	HP:0001562
6888	TALDO1	Wide mouth	HP:0000154
6888	TALDO1	Ventricular septal defect	HP:0001629
6888	TALDO1	Atrial septal defect	HP:0001631
6888	TALDO1	Depressed nasal bridge	HP:0005280
6888	TALDO1	Failure to thrive	HP:0001508
6888	TALDO1	Intrauterine growth retardation	HP:0001511
6888	TALDO1	Thin vermilion border	HP:0000233
6888	TALDO1	Increased serum bile acid concentration	HP:0012202
6888	TALDO1	Functional respiratory abnormality	HP:0002795
6888	TALDO1	Patent ductus arteriosus	HP:0001643
6888	TALDO1	Small for gestational age	HP:0001518
6888	TALDO1	Anemia	HP:0001903
6888	TALDO1	Global developmental delay	HP:0001263
6888	TALDO1	Telangiectasia	HP:0001009
6888	TALDO1	Low-set ears	HP:0000369
6888	TALDO1	Poor suck	HP:0002033
6888	TALDO1	Cirrhosis	HP:0001394
6888	TALDO1	Hepatic fibrosis	HP:0001395
6888	TALDO1	Asthma	HP:0002099
6888	TALDO1	Patent foramen ovale	HP:0001655
6888	TALDO1	Abnormality of the clitoris	HP:0000056
6888	TALDO1	Hydrops fetalis	HP:0001789
6890	TAP1	Emphysema	HP:0002097
6890	TAP1	Recurrent bronchitis	HP:0002837
6890	TAP1	Chronic sinusitis	HP:0011109
6890	TAP1	Chronic otitis media	HP:0000389
6890	TAP1	Nasal polyposis	HP:0100582
6890	TAP1	Autosomal recessive inheritance	HP:0000007
6890	TAP1	Skin ulcer	HP:0200042
6890	TAP1	Ectopia lentis	HP:0001083
6890	TAP1	Bronchiectasis	HP:0002110
6890	TAP1	Bronchiolitis	HP:0011950
6891	TAP2	Emphysema	HP:0002097
6891	TAP2	Recurrent bronchitis	HP:0002837
6891	TAP2	Chronic sinusitis	HP:0011109
6891	TAP2	Chronic otitis media	HP:0000389
6891	TAP2	Nasal polyposis	HP:0100582
6891	TAP2	Autosomal recessive inheritance	HP:0000007
6891	TAP2	Skin ulcer	HP:0200042
6891	TAP2	Ectopia lentis	HP:0001083
6891	TAP2	Bronchiectasis	HP:0002110
6891	TAP2	Bronchiolitis	HP:0011950
6892	TAPBP	Emphysema	HP:0002097
6892	TAPBP	Recurrent bronchitis	HP:0002837
6892	TAPBP	Chronic sinusitis	HP:0011109
6892	TAPBP	Chronic otitis media	HP:0000389
6892	TAPBP	Nasal polyposis	HP:0100582
6892	TAPBP	Autosomal recessive inheritance	HP:0000007
6892	TAPBP	Skin ulcer	HP:0200042
6892	TAPBP	Ectopia lentis	HP:0001083
6892	TAPBP	Bronchiectasis	HP:0002110
6892	TAPBP	Bronchiolitis	HP:0011950
23279	NUP160	Focal segmental glomerulosclerosis	HP:0000097
23279	NUP160	Progressive	HP:0003676
23279	NUP160	Steroid-resistant nephrotic syndrome	HP:0012588
23279	NUP160	Chronic kidney disease	HP:0012622
64240	ABCG5	Precocious atherosclerosis	HP:0004416
64240	ABCG5	Renal artery stenosis	HP:0001920
64240	ABCG5	Episodic hemolytic anemia	HP:0004802
64240	ABCG5	Reticulocytosis	HP:0001923
64240	ABCG5	Heart murmur	HP:0030148
64240	ABCG5	Increased LDL cholesterol concentration	HP:0003141
64240	ABCG5	Hyperlipidemia	HP:0003077
64240	ABCG5	Chronic hemolytic anemia	HP:0004870
64240	ABCG5	Autosomal recessive inheritance	HP:0000007
64240	ABCG5	Coronary artery atherosclerosis	HP:0001677
64240	ABCG5	Arthralgia	HP:0002829
64240	ABCG5	Splenomegaly	HP:0001744
64240	ABCG5	Angina pectoris	HP:0001681
64240	ABCG5	Abnormal internal carotid artery morphology	HP:3000062
64240	ABCG5	Impaired platelet aggregation	HP:0003540
64240	ABCG5	Abnormal eye physiology	HP:0012373
64240	ABCG5	Peripheral arterial stenosis	HP:0004950
64240	ABCG5	Arthritis	HP:0001369
64240	ABCG5	Supravalvular aortic stenosis	HP:0004381
64240	ABCG5	Stomatocytosis	HP:0004446
64240	ABCG5	Hyperapobetalipoproteinemia	HP:0008158
64240	ABCG5	Abnormality of nervous system physiology	HP:0012638
64240	ABCG5	Renal steatosis	HP:0000799
64240	ABCG5	Cerebral artery atherosclerosis	HP:0007201
64240	ABCG5	Coronary artery aneurysm	HP:0030882
64240	ABCG5	Calcification of the aorta	HP:0004963
64240	ABCG5	Abnormal bleeding	HP:0001892
64240	ABCG5	Myocardial steatosis	HP:0006693
64240	ABCG5	Abnormality of the integument	HP:0001574
64240	ABCG5	Left ventricular dysfunction	HP:0005162
64240	ABCG5	Abdominal pain	HP:0002027
64240	ABCG5	Sudden cardiac death	HP:0001645
64240	ABCG5	Aortic atherosclerotic lesion	HP:0012397
64240	ABCG5	Giant platelets	HP:0001902
64240	ABCG5	Dyspnea	HP:0002094
64240	ABCG5	Abnormality of the liver	HP:0001392
64240	ABCG5	Optic neuropathy	HP:0001138
64240	ABCG5	Hypercholesterolemia	HP:0003124
64240	ABCG5	Hepatic steatosis	HP:0001397
64240	ABCG5	Mitral regurgitation	HP:0001653
64240	ABCG5	Hypertension	HP:0000822
64240	ABCG5	Premature arteriosclerosis	HP:0005177
64240	ABCG5	Myocardial infarction	HP:0001658
64240	ABCG5	Tendon xanthomatosis	HP:0010874
64240	ABCG5	Premature coronary artery atherosclerosis	HP:0005181
64241	ABCG8	Precocious atherosclerosis	HP:0004416
64241	ABCG8	Renal artery stenosis	HP:0001920
64241	ABCG8	Episodic hemolytic anemia	HP:0004802
64241	ABCG8	Reticulocytosis	HP:0001923
64241	ABCG8	Heart murmur	HP:0030148
64241	ABCG8	Increased LDL cholesterol concentration	HP:0003141
64241	ABCG8	Hyperlipidemia	HP:0003077
64241	ABCG8	Chronic hemolytic anemia	HP:0004870
64241	ABCG8	Autosomal recessive inheritance	HP:0000007
64241	ABCG8	Coronary artery atherosclerosis	HP:0001677
64241	ABCG8	Arthralgia	HP:0002829
64241	ABCG8	Splenomegaly	HP:0001744
64241	ABCG8	Angina pectoris	HP:0001681
64241	ABCG8	Abnormal internal carotid artery morphology	HP:3000062
64241	ABCG8	Impaired platelet aggregation	HP:0003540
64241	ABCG8	Abnormal eye physiology	HP:0012373
64241	ABCG8	Peripheral arterial stenosis	HP:0004950
64241	ABCG8	Arthritis	HP:0001369
64241	ABCG8	Supravalvular aortic stenosis	HP:0004381
64241	ABCG8	Stomatocytosis	HP:0004446
64241	ABCG8	Hyperapobetalipoproteinemia	HP:0008158
64241	ABCG8	Abnormality of nervous system physiology	HP:0012638
64241	ABCG8	Renal steatosis	HP:0000799
64241	ABCG8	Cerebral artery atherosclerosis	HP:0007201
64241	ABCG8	Coronary artery aneurysm	HP:0030882
64241	ABCG8	Calcification of the aorta	HP:0004963
64241	ABCG8	Abnormal bleeding	HP:0001892
64241	ABCG8	Myocardial steatosis	HP:0006693
64241	ABCG8	Abnormality of the integument	HP:0001574
64241	ABCG8	Left ventricular dysfunction	HP:0005162
64241	ABCG8	Abdominal pain	HP:0002027
64241	ABCG8	Sudden cardiac death	HP:0001645
64241	ABCG8	Aortic atherosclerotic lesion	HP:0012397
64241	ABCG8	Giant platelets	HP:0001902
64241	ABCG8	Dyspnea	HP:0002094
64241	ABCG8	Abnormality of the liver	HP:0001392
64241	ABCG8	Optic neuropathy	HP:0001138
64241	ABCG8	Hypercholesterolemia	HP:0003124
64241	ABCG8	Hepatic steatosis	HP:0001397
64241	ABCG8	Mitral regurgitation	HP:0001653
64241	ABCG8	Hypertension	HP:0000822
64241	ABCG8	Premature arteriosclerosis	HP:0005177
64241	ABCG8	Myocardial infarction	HP:0001658
64241	ABCG8	Tendon xanthomatosis	HP:0010874
64241	ABCG8	Premature coronary artery atherosclerosis	HP:0005181
6898	TAT	Intellectual disability	HP:0001249
6898	TAT	Seizures	HP:0001250
6898	TAT	Ataxia	HP:0001251
6898	TAT	Herpetiform corneal ulceration	HP:0007812
6898	TAT	Photophobia	HP:0000613
6898	TAT	Growth delay	HP:0001510
6898	TAT	Autosomal recessive inheritance	HP:0000007
6898	TAT	Hyperhidrosis	HP:0000975
6898	TAT	Malar flattening	HP:0000272
6898	TAT	Abnormality of amino acid metabolism	HP:0004337
6898	TAT	Corneal opacity	HP:0007957
6898	TAT	Palmoplantar keratoderma	HP:0000982
6898	TAT	Abnormality of the skin	HP:0000951
6898	TAT	Neurological speech impairment	HP:0002167
6898	TAT	4-Hydroxyphenylpyruvic aciduria	HP:0003161
6898	TAT	Tremor	HP:0001337
6898	TAT	Visual loss	HP:0000572
6898	TAT	Microcephaly	HP:0000252
6898	TAT	Abnormality of the nail	HP:0001597
6898	TAT	Hypertyrosinemia	HP:0003231
6898	TAT	Nystagmus	HP:0000639
6899	TBX1	Umbilical hernia	HP:0001537
6899	TBX1	Autosomal dominant inheritance	HP:0000006
6899	TBX1	Intestinal malrotation	HP:0002566
6899	TBX1	Cataract	HP:0000518
6899	TBX1	Autosomal recessive inheritance	HP:0000007
6899	TBX1	Proptosis	HP:0000520
6899	TBX1	Abnormal aortic arch morphology	HP:0012303
6899	TBX1	Parathyroid agenesis	HP:0008211
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	Acne	HP:0001061
6899	TBX1	Retinal vascular tortuosity	HP:0012841
6899	TBX1	Hypospadias	HP:0000047
6899	TBX1	Bowel incontinence	HP:0002607
6899	TBX1	Asthma	HP:0002099
6899	TBX1	Abnormal lung lobation	HP:0002101
6899	TBX1	Microphthalmia	HP:0000568
6899	TBX1	Cholelithiasis	HP:0001081
6899	TBX1	Varicose veins	HP:0002619
6899	TBX1	Multiple suture craniosynostosis	HP:0011324
6899	TBX1	Joint hyperflexibility	HP:0005692
6899	TBX1	Exotropia	HP:0000577
6899	TBX1	Laryngomalacia	HP:0001601
6899	TBX1	Right aortic arch with mirror image branching	HP:0002627
6899	TBX1	Blepharophimosis	HP:0000581
6899	TBX1	Upslanted palpebral fissure	HP:0000582
6899	TBX1	Decreased circulating parathyroid hormone level	HP:0031817
6899	TBX1	Nasal speech	HP:0001611
6899	TBX1	Vesicoureteral reflux	HP:0000076
6899	TBX1	Accommodative esotropia	HP:0020046
6899	TBX1	Abnormality of the ear	HP:0000598
6899	TBX1	Abnormality of the pharynx	HP:0000600
6899	TBX1	Renal hypoplasia	HP:0000089
6899	TBX1	Scoliosis	HP:0002650
6899	TBX1	Arrhinencephaly	HP:0002139
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	Patent ductus arteriosus	HP:0001643
6899	TBX1	Renal dysplasia	HP:0000110
6899	TBX1	Abnormal aortic valve morphology	HP:0001646
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	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	Abnormality of the uterus	HP:0000130
6899	TBX1	Abnormality of the hand	HP:0001155
6899	TBX1	Platybasia	HP:0002691
6899	TBX1	Brachydactyly	HP:0001156
6899	TBX1	Transposition of the great arteries	HP:0001669
6899	TBX1	Amblyopia	HP:0000646
6899	TBX1	Bipolar affective disorder	HP:0007302
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	Arachnodactyly	HP:0001166
6899	TBX1	Coarctation of aorta	HP:0001680
6899	TBX1	High, narrow palate	HP:0002705
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	Underdeveloped supraorbital ridges	HP:0009891
6899	TBX1	Feeding difficulties in infancy	HP:0008872
6899	TBX1	Abnormality of dental enamel	HP:0000682
6899	TBX1	Cleft palate	HP:0000175
6899	TBX1	Submucous cleft hard palate	HP:0000176
6899	TBX1	Anterior creases of earlobe	HP:0009908
6899	TBX1	Double outlet right ventricle	HP:0001719
6899	TBX1	Femoral hernia	HP:0100541
6899	TBX1	Gastrointestinal hemorrhage	HP:0002239
6899	TBX1	Bifid uvula	HP:0000193
6899	TBX1	Open mouth	HP:0000194
6899	TBX1	Pierre-Robin sequence	HP:0000201
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	High palate	HP:0000218
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	Short stature	HP:0004322
6899	TBX1	Seizures	HP:0001250
6899	TBX1	Abnormality of immune system physiology	HP:0010978
6899	TBX1	Talipes equinovarus	HP:0001762
6899	TBX1	Anxiety	HP:0000739
6899	TBX1	Muscular hypotonia	HP:0001252
6899	TBX1	Corneal neovascularization	HP:0011496
6899	TBX1	Intellectual disability, mild	HP:0001256
6899	TBX1	Thin vermilion border	HP:0000233
6899	TBX1	Delayed speech and language development	HP:0000750
6899	TBX1	Hydrocephalus	HP:0000238
6899	TBX1	Global developmental delay	HP:0001263
6899	TBX1	Microcephaly	HP:0000252
6899	TBX1	Abnormality of the thorax	HP:0000765
6899	TBX1	Myalgia	HP:0003326
6899	TBX1	Tetany	HP:0001281
6899	TBX1	Turricephaly	HP:0000262
6899	TBX1	Abnormality of the thymus	HP:0000777
6899	TBX1	Hypoplasia of the thymus	HP:0000778
6899	TBX1	Dolichocephaly	HP:0000268
6899	TBX1	Malar flattening	HP:0000272
6899	TBX1	Displacement of the urethral meatus	HP:0100627
6899	TBX1	Narrow face	HP:0000275
6899	TBX1	Aplasia/Hypoplasia of the thymus	HP:0010515
6899	TBX1	Long face	HP:0000276
6899	TBX1	Retrognathia	HP:0000278
6899	TBX1	Epicanthus	HP:0000286
6899	TBX1	Hypoplastic left heart	HP:0004383
6899	TBX1	Foot polydactyly	HP:0001829
6899	TBX1	Specific learning disability	HP:0001328
6899	TBX1	Hypothyroidism	HP:0000821
6899	TBX1	Dysphasia	HP:0002357
6899	TBX1	Impaired T cell function	HP:0005435
6899	TBX1	Hypertelorism	HP:0000316
6899	TBX1	Hypoparathyroidism	HP:0000829
6899	TBX1	Smooth philtrum	HP:0000319
6899	TBX1	Short philtrum	HP:0000322
6899	TBX1	Hyperthyroidism	HP:0000836
6899	TBX1	Double aortic arch	HP:0011590
6899	TBX1	Broad hallux	HP:0010055
6899	TBX1	Pulmonary artery atresia	HP:0004935
6899	TBX1	Broad forehead	HP:0000337
6899	TBX1	Thrombocytopenia	HP:0001873
6899	TBX1	Hypocalcemia	HP:0002901
6899	TBX1	Long philtrum	HP:0000343
6899	TBX1	Arthritis	HP:0001369
6899	TBX1	Interrupted aortic arch	HP:0011611
6899	TBX1	Talipes	HP:0001883
6899	TBX1	Micrognathia	HP:0000347
6899	TBX1	High forehead	HP:0000348
6899	TBX1	Parathyroid hypoplasia	HP:0000860
6899	TBX1	Attention deficit hyperactivity disorder	HP:0007018
6899	TBX1	Hearing impairment	HP:0000365
6899	TBX1	Chronic obstructive pulmonary disease	HP:0006510
6899	TBX1	Low-set ears	HP:0000369
6899	TBX1	Abnormality of the middle ear	HP:0000370
6899	TBX1	Preauricular pit	HP:0004467
6899	TBX1	Hypertensive crisis	HP:0100735
6899	TBX1	Small earlobe	HP:0000385
6899	TBX1	Chronic otitis media	HP:0000389
6899	TBX1	Overfolded helix	HP:0000396
6899	TBX1	Tricuspid atresia	HP:0011662
6899	TBX1	Atelectasis	HP:0100750
6899	TBX1	Schizophrenia	HP:0100753
6899	TBX1	Autoimmunity	HP:0002960
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	Postaxial polydactyly	HP:0100259
6899	TBX1	Prominent nasal bridge	HP:0000426
6899	TBX1	Underdeveloped nasal alae	HP:0000430
6899	TBX1	Wide nasal bridge	HP:0000431
6899	TBX1	Patellar dislocation	HP:0002999
6899	TBX1	Multiple renal cysts	HP:0005562
6899	TBX1	Wide nose	HP:0000445
6899	TBX1	Choanal atresia	HP:0000453
6899	TBX1	Depressed nasal ridge	HP:0000457
6899	TBX1	Short palpebral fissure	HP:0012745
6899	TBX1	Purpura	HP:0000979
6899	TBX1	Urethral stenosis	HP:0008661
6899	TBX1	Short neck	HP:0000470
6899	TBX1	Narrow palpebral fissure	HP:0045025
6899	TBX1	Constipation	HP:0002019
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	Obesity	HP:0001513
6899	TBX1	Downslanted palpebral fissures	HP:0000494
6899	TBX1	Abnormal nasal morphology	HP:0005105
6899	TBX1	Glaucoma	HP:0000501
6899	TBX1	Telecanthus	HP:0000506
6899	TBX1	Ptosis	HP:0000508
6900	CNTN2	EEG abnormality	HP:0002353
6900	CNTN2	Intellectual disability	HP:0001249
6900	CNTN2	Amaurosis fugax	HP:0100576
6900	CNTN2	Focal sensory seizure	HP:0011157
6900	CNTN2	Generalized tonic-clonic seizures	HP:0002069
6900	CNTN2	Generalized-onset seizure	HP:0002197
6900	CNTN2	Autosomal recessive inheritance	HP:0000007
6900	CNTN2	Myoclonus	HP:0001336
6900	CNTN2	Tremor	HP:0001337
6900	CNTN2	Hand tremor	HP:0002378
6900	CNTN2	Headache	HP:0002315
6900	CNTN2	Focal-onset seizure	HP:0007359
56052	ALG1	Hepatomegaly	HP:0002240
56052	ALG1	Areflexia	HP:0001284
56052	ALG1	Autosomal recessive inheritance	HP:0000007
56052	ALG1	Hypogonadism	HP:0000135
56052	ALG1	Generalized hypotonia	HP:0001290
56052	ALG1	Cerebral atrophy	HP:0002059
56052	ALG1	Psychomotor retardation	HP:0025356
56052	ALG1	Splenomegaly	HP:0001744
56052	ALG1	Abnormality of the amniotic fluid	HP:0001560
56052	ALG1	Micrognathia	HP:0000347
56052	ALG1	Flexion contracture	HP:0001371
56052	ALG1	Seizures	HP:0001250
56052	ALG1	Abnormality of immune system physiology	HP:0010978
56052	ALG1	Muscular hypotonia	HP:0001252
56052	ALG1	Cardiomyopathy	HP:0001638
56052	ALG1	Intrauterine growth retardation	HP:0001511
56052	ALG1	Hypertrophic cardiomyopathy	HP:0001639
56052	ALG1	Thin vermilion border	HP:0000233
56052	ALG1	Global developmental delay	HP:0001263
56052	ALG1	Large fontanelles	HP:0000239
56052	ALG1	Nephropathy	HP:0000112
56052	ALG1	Death in infancy	HP:0001522
56052	ALG1	Hepatic failure	HP:0001399
56052	ALG1	Type I transferrin isoform profile	HP:0003642
56052	ALG1	Hypertelorism	HP:0000316
56052	ALG1	Microcephaly	HP:0000252
56052	ALG1	Nonimmune hydrops fetalis	HP:0001790
6901	TAZ	EMG abnormality	HP:0003457
6901	TAZ	Abnormal mitochondrial morphology	HP:0008322
6901	TAZ	Gait disturbance	HP:0001288
6901	TAZ	Organic aciduria	HP:0001992
6901	TAZ	Myopathic facies	HP:0002058
6901	TAZ	X-linked recessive inheritance	HP:0001419
6901	TAZ	3-Methylglutaconic aciduria	HP:0003535
6901	TAZ	Macrotia	HP:0000400
6901	TAZ	Broad forehead	HP:0000337
6901	TAZ	Abnormality of neutrophils	HP:0001874
6901	TAZ	Neutropenia	HP:0001875
6901	TAZ	Palmoplantar keratoderma	HP:0000982
6901	TAZ	Sensorineural hearing impairment	HP:0000407
6901	TAZ	Fatigue	HP:0012378
6901	TAZ	Exercise intolerance	HP:0003546
6901	TAZ	Arrhythmia	HP:0011675
6901	TAZ	Talipes equinovarus	HP:0001762
6901	TAZ	Lipoatrophy	HP:0100578
6901	TAZ	Congestive heart failure	HP:0001635
6901	TAZ	Elevated serum creatine kinase	HP:0003236
6901	TAZ	Failure to thrive	HP:0001508
6901	TAZ	Full cheeks	HP:0000293
6901	TAZ	Growth delay	HP:0001510
6901	TAZ	Hypertrophic cardiomyopathy	HP:0001639
6901	TAZ	Endocardial fibroelastosis	HP:0001706
6901	TAZ	Deeply set eye	HP:0000490
6901	TAZ	Dilated cardiomyopathy	HP:0001644
6901	TAZ	Skeletal myopathy	HP:0003756
6901	TAZ	Mandibular prognathia	HP:0000303
6901	TAZ	Intermittent lactic acidemia	HP:0004913
6901	TAZ	Motor delay	HP:0001270
6901	TAZ	Round face	HP:0000311
6901	TAZ	Granulocytopenia	HP:0001913
6901	TAZ	Recurrent infections in infancy and early childhood	HP:0005437
6901	TAZ	Myopathy	HP:0003198
146167	SLC38A8	Alternating esotropia	HP:0001137
146167	SLC38A8	Foveal hyperpigmentation	HP:0008001
146167	SLC38A8	Posterior embryotoxon	HP:0000627
146167	SLC38A8	Axenfeld anomaly	HP:0001492
146167	SLC38A8	Hypoplasia of the fovea	HP:0007750
146167	SLC38A8	Autosomal recessive inheritance	HP:0000007
146167	SLC38A8	Microphthalmia	HP:0000568
146167	SLC38A8	Reduced visual acuity	HP:0007663
146167	SLC38A8	Nystagmus	HP:0000639
146167	SLC38A8	Optic nerve misrouting	HP:0025551
23287	AGTPBP1	Tetraparesis	HP:0002273
23287	AGTPBP1	Skeletal muscle atrophy	HP:0003202
23287	AGTPBP1	Slow saccadic eye movements	HP:0000514
23287	AGTPBP1	Ataxia	HP:0001251
23287	AGTPBP1	Strabismus	HP:0000486
23287	AGTPBP1	Developmental regression	HP:0002376
23287	AGTPBP1	Spasticity	HP:0001257
23287	AGTPBP1	Generalized hypotonia	HP:0001290
23287	AGTPBP1	Inability to walk	HP:0002540
23287	AGTPBP1	Dysplastic corpus callosum	HP:0006989
23287	AGTPBP1	Global developmental delay	HP:0001263
23287	AGTPBP1	Poor eye contact	HP:0000817
23287	AGTPBP1	Dystonia	HP:0001332
23287	AGTPBP1	Motor delay	HP:0001270
23287	AGTPBP1	Cerebellar atrophy	HP:0001272
23287	AGTPBP1	Progressive	HP:0003676
23287	AGTPBP1	Nystagmus	HP:0000639
23288	IQCE	Postaxial polydactyly	HP:0100259
6904	TBCD	Feeding difficulties	HP:0011968
6904	TBCD	Absent speech	HP:0001344
6904	TBCD	Skeletal muscle atrophy	HP:0003202
6904	TBCD	Upslanted palpebral fissure	HP:0000582
6904	TBCD	Atrophy/Degeneration affecting the brainstem	HP:0007366
6904	TBCD	Ventriculomegaly	HP:0002119
6904	TBCD	Autosomal recessive inheritance	HP:0000007
6904	TBCD	Developmental regression	HP:0002376
6904	TBCD	Optic atrophy	HP:0000648
6904	TBCD	Diffuse cerebral atrophy	HP:0002506
6904	TBCD	Spastic tetraplegia	HP:0002510
6904	TBCD	Encephalopathy	HP:0001298
6904	TBCD	Sparse eyebrow	HP:0045075
6904	TBCD	Scoliosis	HP:0002650
6904	TBCD	Micrognathia	HP:0000347
6904	TBCD	Tongue fasciculations	HP:0001308
6904	TBCD	Hypoplasia of the corpus callosum	HP:0002079
6904	TBCD	Neuronal loss in central nervous system	HP:0002529
6904	TBCD	Intellectual disability	HP:0001249
6904	TBCD	Seizures	HP:0001250
6904	TBCD	Constipation	HP:0002019
6904	TBCD	CNS hypomyelination	HP:0003429
6904	TBCD	Facial hypotonia	HP:0000297
6904	TBCD	Postnatal microcephaly	HP:0005484
6904	TBCD	Muscle weakness	HP:0001324
6904	TBCD	Severe muscular hypotonia	HP:0006829
6904	TBCD	Widely spaced teeth	HP:0000687
6904	TBCD	Global developmental delay	HP:0001263
6904	TBCD	Arthrogryposis multiplex congenita	HP:0002804
6904	TBCD	Variable expressivity	HP:0003828
6904	TBCD	Cerebellar atrophy	HP:0001272
6904	TBCD	Gliosis	HP:0002171
6904	TBCD	Hypertelorism	HP:0000316
6905	TBCE	Tetany	HP:0001281
6905	TBCE	Spastic tetraparesis	HP:0001285
6905	TBCE	Congenital hypoparathyroidism	HP:0008198
6905	TBCE	Iron accumulation in substantia nigra	HP:0012678
6905	TBCE	Autosomal recessive inheritance	HP:0000007
6905	TBCE	Optic atrophy	HP:0000648
6905	TBCE	Infantile onset	HP:0003593
6905	TBCE	Generalized hypotonia	HP:0001290
6905	TBCE	Severe intrauterine growth retardation	HP:0008846
6905	TBCE	Delayed cranial suture closure	HP:0000270
6905	TBCE	Hypocalcemic tetany	HP:0003472
6905	TBCE	Progressive encephalopathy	HP:0002448
6905	TBCE	Encephalopathy	HP:0001298
6905	TBCE	Corneal opacity	HP:0007957
6905	TBCE	Peripheral axonal neuropathy	HP:0003477
6905	TBCE	Hypocalcemic seizures	HP:0002199
6905	TBCE	Cryptorchidism	HP:0000028
6905	TBCE	Slender long bone	HP:0003100
6905	TBCE	Recurrent respiratory infections	HP:0002205
6905	TBCE	Carious teeth	HP:0000670
6905	TBCE	Recurrent bacterial infections	HP:0002718
6905	TBCE	Cortical thickening of long bone diaphyses	HP:0005791
6905	TBCE	Stenosis of the medullary cavity of the long bones	HP:0100254
6905	TBCE	Progressive spastic paraparesis	HP:0007199
6905	TBCE	Hypoplasia of the corpus callosum	HP:0002079
6905	TBCE	Depressed nasal bridge	HP:0005280
6905	TBCE	Hypoplasia of penis	HP:0008736
6905	TBCE	Delayed myelination	HP:0012448
6905	TBCE	Full cheeks	HP:0000293
6905	TBCE	Abnormality of dental enamel	HP:0000682
6905	TBCE	Severe muscular hypotonia	HP:0006829
6905	TBCE	Proportionate short stature	HP:0003508
6905	TBCE	Patchy osteosclerosis	HP:0005686
6905	TBCE	Micropenis	HP:0000054
6905	TBCE	Short palm	HP:0004279
6905	TBCE	Growth hormone deficiency	HP:0000824
6905	TBCE	Convex nasal ridge	HP:0000444
6905	TBCE	Hypertelorism	HP:0000316
6905	TBCE	Delayed skeletal maturation	HP:0002750
6905	TBCE	Postnatal growth retardation	HP:0008897
6905	TBCE	Spastic ataxia	HP:0002497
6905	TBCE	Bifid uvula	HP:0000193
6905	TBCE	Foot dorsiflexor weakness	HP:0009027
6905	TBCE	Delayed closure of the anterior fontanelle	HP:0001476
6905	TBCE	Thin long bone diaphyses	HP:0006470
6905	TBCE	Ventriculomegaly	HP:0002119
6905	TBCE	Developmental regression	HP:0002376
6905	TBCE	Calvarial osteosclerosis	HP:0005450
6905	TBCE	Spastic tetraplegia	HP:0002510
6905	TBCE	Prominent forehead	HP:0011220
6905	TBCE	Hypocalcemia	HP:0002901
6905	TBCE	Long philtrum	HP:0000343
6905	TBCE	Frontal bossing	HP:0002007
6905	TBCE	Spinal canal stenosis	HP:0003416
6905	TBCE	Hyperphosphatemia	HP:0002905
6905	TBCE	Scoliosis	HP:0002650
6905	TBCE	Micrognathia	HP:0000347
6905	TBCE	High forehead	HP:0000348
6905	TBCE	Progressive	HP:0003676
6905	TBCE	Intestinal obstruction	HP:0005214
6905	TBCE	Intellectual disability	HP:0001249
6905	TBCE	Seizures	HP:0001250
6905	TBCE	Short stature	HP:0004322
6905	TBCE	Astigmatism	HP:0000483
6905	TBCE	Ataxia	HP:0001251
6905	TBCE	Spinal muscular atrophy	HP:0007269
6905	TBCE	Hypomagnesemia	HP:0002917
6905	TBCE	Posteriorly rotated ears	HP:0000358
6905	TBCE	Intrauterine growth retardation	HP:0001511
6905	TBCE	Thin vermilion border	HP:0000233
6905	TBCE	Birth length less than 3rd percentile	HP:0003561
6905	TBCE	Deeply set eye	HP:0000490
6905	TBCE	Decreased skull ossification	HP:0004331
6905	TBCE	Dysarthria	HP:0001260
6905	TBCE	Short foot	HP:0001773
6905	TBCE	Distal amyotrophy	HP:0003693
6905	TBCE	Global developmental delay	HP:0001263
6905	TBCE	Anemia	HP:0001903
6905	TBCE	Low-set, posteriorly rotated ears	HP:0000368
6905	TBCE	Low-set ears	HP:0000369
6905	TBCE	Difficulty standing	HP:0003698
6905	TBCE	Thin ribs	HP:0000883
6905	TBCE	Small hand	HP:0200055
6905	TBCE	EMG: chronic denervation signs	HP:0003444
6905	TBCE	Thin clavicles	HP:0006645
6905	TBCE	Aplasia/Hypoplasia affecting the eye	HP:0008056
6905	TBCE	Cerebellar atrophy	HP:0001272
6905	TBCE	Anarthria	HP:0002425
6905	TBCE	Long clavicles	HP:0000890
6905	TBCE	External ear malformation	HP:0008572
6905	TBCE	Microcephaly	HP:0000252
6905	TBCE	Myopathy	HP:0003198
6905	TBCE	Cellular immunodeficiency	HP:0005374
6908	TBP	Gaze-evoked nystagmus	HP:0000640
6908	TBP	Blepharospasm	HP:0000643
6908	TBP	Behavioral abnormality	HP:0000708
6908	TBP	Autosomal dominant inheritance	HP:0000006
6908	TBP	Atrophy/Degeneration affecting the brainstem	HP:0007366
6908	TBP	Gait disturbance	HP:0001288
6908	TBP	Confusion	HP:0001289
6908	TBP	Apraxia	HP:0002186
6908	TBP	Diffuse cerebral atrophy	HP:0002506
6908	TBP	Depressivity	HP:0000716
6908	TBP	Aggressive behavior	HP:0000718
6908	TBP	Rigidity	HP:0002063
6908	TBP	Gait ataxia	HP:0002066
6908	TBP	Generalized cerebral atrophy/hypoplasia	HP:0007058
6908	TBP	Bradykinesia	HP:0002067
6908	TBP	Urinary incontinence	HP:0000020
6908	TBP	Parkinsonism	HP:0001300
6908	TBP	Limb ataxia	HP:0002070
6908	TBP	Frontal lobe dementia	HP:0000727
6908	TBP	Chorea	HP:0002072
6908	TBP	Broad-based gait	HP:0002136
6908	TBP	Abnormal pyramidal sign	HP:0007256
6908	TBP	Torticollis	HP:0000473
6908	TBP	Progressive	HP:0003676
6908	TBP	Dysmetria	HP:0001310
6908	TBP	Paranoia	HP:0011999
6908	TBP	Dysphagia	HP:0002015
6908	TBP	Intention tremor	HP:0002080
6908	TBP	Neuronal loss in central nervous system	HP:0002529
6908	TBP	Seizures	HP:0001250
6908	TBP	Hallucinations	HP:0000738
6908	TBP	Positive Romberg sign	HP:0002403
6908	TBP	Ataxia	HP:0001251
6908	TBP	Frontal release signs	HP:0000743
6908	TBP	Spasticity	HP:0001257
6908	TBP	Dysarthria	HP:0001260
6908	TBP	Cerebellar Purkinje layer atrophy	HP:0012082
6908	TBP	Impaired pursuit initiation and maintenance	HP:0007668
6908	TBP	Dystonia	HP:0001332
6908	TBP	Mental deterioration	HP:0001268
6908	TBP	Writer's cramp	HP:0002356
6908	TBP	Lack of insight	HP:0000757
6908	TBP	Myoclonus	HP:0001336
6908	TBP	Cerebellar atrophy	HP:0001272
6908	TBP	Gliosis	HP:0002171
6908	TBP	Mutism	HP:0002300
6909	TBX2	Triangular face	HP:0000325
6909	TBX2	Broad nasal tip	HP:0000455
6909	TBX2	Overfolded helix	HP:0000396
6909	TBX2	Sprengel anomaly	HP:0000912
6909	TBX2	Webbed neck	HP:0000465
6909	TBX2	Short neck	HP:0000470
6909	TBX2	Scoliosis	HP:0002650
6909	TBX2	Abnormal B cell morphology	HP:0002846
6909	TBX2	Epicanthus	HP:0000286
6909	TBX2	Atrial septal defect	HP:0001631
6909	TBX2	Depressed nasal bridge	HP:0005280
6909	TBX2	Low anterior hairline	HP:0000294
6909	TBX2	Cleft lip	HP:0410030
6909	TBX2	Hashimoto thyroiditis	HP:0000872
6909	TBX2	Pulmonic stenosis	HP:0001642
6909	TBX2	Global developmental delay	HP:0001263
6909	TBX2	Cleft palate	HP:0000175
6909	TBX2	Low-set ears	HP:0000369
6909	TBX2	Glabellar hemangioma	HP:0001076
6909	TBX2	Depressed nasal tip	HP:0000437
6909	TBX2	Double outlet right ventricle	HP:0001719
6909	TBX2	Kyphosis	HP:0002808
6909	TBX2	Growth hormone deficiency	HP:0000824
6909	TBX2	Cupped ear	HP:0000378
6909	TBX2	Hypertelorism	HP:0000316
6909	TBX2	Hypoparathyroidism	HP:0000829
6909	TBX2	Ectopia pupillae	HP:0009918
6910	TBX5	Abnormality of the ribs	HP:0000772
6910	TBX5	Autosomal dominant inheritance	HP:0000006
6910	TBX5	Absent radius	HP:0003974
6910	TBX5	Syndactyly	HP:0001159
6910	TBX5	Abnormality of the metacarpal bones	HP:0001163
6910	TBX5	Abnormal vertebral morphology	HP:0003468
6910	TBX5	Aplasia of the ulna	HP:0003982
6910	TBX5	Hypoplasia of the ulna	HP:0003022
6910	TBX5	Abnormal aortic morphology	HP:0001679
6910	TBX5	Sprengel anomaly	HP:0000912
6910	TBX5	Split hand	HP:0001171
6910	TBX5	Finger clinodactyly	HP:0040019
6910	TBX5	Anomalous pulmonary venous return	HP:0010772
6910	TBX5	Secundum atrial septal defect	HP:0001684
6910	TBX5	Finger syndactyly	HP:0006101
6910	TBX5	Paroxysmal atrial fibrillation	HP:0004757
6910	TBX5	Down-sloping shoulders	HP:0200021
6910	TBX5	Aplasia of the pectoralis major muscle	HP:0009751
6910	TBX5	Short digit	HP:0011927
6910	TBX5	Partial duplication of thumb phalanx	HP:0009944
6910	TBX5	Scoliosis	HP:0002650
6910	TBX5	Ventricular septal defect	HP:0001629
6910	TBX5	Small thenar eminence	HP:0001245
6910	TBX5	Radioulnar synostosis	HP:0002974
6910	TBX5	Atrial septal defect	HP:0001631
6910	TBX5	Hypoplastic left heart	HP:0004383
6910	TBX5	Short humerus	HP:0005792
6910	TBX5	Limited elbow extension	HP:0001377
6910	TBX5	Aplasia/Hypoplasia of the radius	HP:0006501
6910	TBX5	Phocomelia	HP:0009829
6910	TBX5	Atrioventricular canal defect	HP:0006695
6910	TBX5	Abnormality of the carpal bones	HP:0001191
6910	TBX5	Broad thumb	HP:0011304
6910	TBX5	Hypoplasia of the radius	HP:0002984
6910	TBX5	Patent ductus arteriosus	HP:0001643
6910	TBX5	Joint stiffness	HP:0001387
6910	TBX5	Triphalangeal thumb	HP:0001199
6910	TBX5	Absent thumb	HP:0009777
6910	TBX5	Abnormality of the humerus	HP:0003063
6910	TBX5	Kyphosis	HP:0002808
6910	TBX5	First degree atrioventricular block	HP:0011705
6910	TBX5	Abnormality of the clavicle	HP:0000889
6910	TBX5	Short clavicles	HP:0000894
6910	TBX5	Pectus excavatum	HP:0000767
6910	TBX5	Thoracic scoliosis	HP:0002943
6911	TBX6	Macrocephaly	HP:0000256
6911	TBX6	Pectus carinatum	HP:0000768
6911	TBX6	Disproportionate short-trunk short stature	HP:0003521
6911	TBX6	Short thorax	HP:0010306
6911	TBX6	Vertebral fusion	HP:0002948
6911	TBX6	Syringomyelia	HP:0003396
6911	TBX6	Upslanted palpebral fissure	HP:0000582
6911	TBX6	Autosomal dominant inheritance	HP:0000006
6911	TBX6	Autosomal recessive inheritance	HP:0000007
6911	TBX6	Abnormality of female internal genitalia	HP:0000008
6911	TBX6	Prominent occiput	HP:0000269
6911	TBX6	Anteverted nares	HP:0000463
6911	TBX6	Posterior rib fusion	HP:0000913
6911	TBX6	Short neck	HP:0000470
6911	TBX6	Abnormality of cardiovascular system morphology	HP:0030680
6911	TBX6	Missing ribs	HP:0000921
6911	TBX6	Scoliosis	HP:0002650
6911	TBX6	Low back pain	HP:0003419
6911	TBX6	Recurrent respiratory infections	HP:0002205
6911	TBX6	Vertebral segmentation defect	HP:0003422
6911	TBX6	Spina bifida occulta	HP:0003298
6911	TBX6	Intrauterine growth retardation	HP:0001511
6911	TBX6	Hyperlordosis	HP:0003307
6911	TBX6	Wide nasal bridge	HP:0000431
6911	TBX6	Cleft palate	HP:0000175
6911	TBX6	Abnormal sacrum morphology	HP:0005107
6911	TBX6	Butterfly vertebrae	HP:0003316
6911	TBX6	Severe short stature	HP:0003510
6911	TBX6	Supernumerary ribs	HP:0005815
6911	TBX6	Hemivertebrae	HP:0002937
6911	TBX6	Microcephaly	HP:0000252
6913	TBX15	Macrocephaly	HP:0000256
6913	TBX15	Joint contracture of the hand	HP:0009473
6913	TBX15	Microtia, first degree	HP:0011266
6913	TBX15	Brachydactyly	HP:0001156
6913	TBX15	Abnormality of the skull base	HP:0002693
6913	TBX15	Autosomal recessive inheritance	HP:0000007
6913	TBX15	Dislocated radial head	HP:0003083
6913	TBX15	Stenosis of the external auditory canal	HP:0000402
6913	TBX15	Hydranencephaly	HP:0002324
6913	TBX15	Prominent protruding coccyx	HP:0008472
6913	TBX15	Short femur	HP:0003097
6913	TBX15	Ambiguous genitalia, male	HP:0000033
6913	TBX15	Anterior rounding of vertebral bodies	HP:0008488
6913	TBX15	Microglossia	HP:0000171
6913	TBX15	Elbow flexion contracture	HP:0002987
6913	TBX15	Fibular aplasia	HP:0002990
6913	TBX15	Cleft palate	HP:0000175
6913	TBX15	Hypoplastic iliac wing	HP:0002866
6913	TBX15	Hypoplastic ilia	HP:0000946
6913	TBX15	Bell-shaped thorax	HP:0001591
6913	TBX15	Microphthalmia	HP:0000568
6913	TBX15	Hypertelorism	HP:0000316
6913	TBX15	Ambiguous genitalia, female	HP:0000061
6913	TBX15	Absent proximal finger flexion creases	HP:0006077
6913	TBX15	Blepharophimosis	HP:0000581
6913	TBX15	Short palpebral fissure	HP:0012745
6913	TBX15	Rhizomelia	HP:0008905
6913	TBX15	Abnormal facial shape	HP:0001999
6913	TBX15	Facial hirsutism	HP:0009937
6913	TBX15	2-3 toe syndactyly	HP:0004691
6913	TBX15	Mesomelia	HP:0003027
6913	TBX15	4-5 toe syndactyly	HP:0004692
6913	TBX15	Short neck	HP:0000470
6913	TBX15	Wrist flexion contracture	HP:0001239
6913	TBX15	Frontal bossing	HP:0002007
6913	TBX15	Micrognathia	HP:0000347
6913	TBX15	Congenital hip dislocation	HP:0001374
6913	TBX15	Camptodactyly	HP:0012385
6913	TBX15	Humeroradial synostosis	HP:0003041
6913	TBX15	Microcornea	HP:0000482
6913	TBX15	Talipes equinovarus	HP:0001762
6913	TBX15	Short stature	HP:0004322
6913	TBX15	Hypoplastic pubic bone	HP:0003173
6913	TBX15	Redundant neck skin	HP:0005989
6913	TBX15	Strabismus	HP:0000486
6913	TBX15	Hypoplastic ischia	HP:0003175
6913	TBX15	Abnormality of the joint spaces of the elbow	HP:0003943
6913	TBX15	Toe syndactyly	HP:0001770
6913	TBX15	Deeply set eye	HP:0000490
6913	TBX15	Hearing impairment	HP:0000365
6913	TBX15	Hydrocephalus	HP:0000238
6913	TBX15	Clinodactyly of the 5th finger	HP:0004209
6913	TBX15	Low-set ears	HP:0000369
6913	TBX15	Hypoplastic scapulae	HP:0000882
6913	TBX15	Low posterior hairline	HP:0002162
6913	TBX15	Abnormality of the pinna	HP:0000377
6913	TBX15	Long clavicles	HP:0000890
6913	TBX15	Mesomelic leg shortening	HP:0004987
6913	TBX15	Alveolar ridge overgrowth	HP:0009085
6913	TBX15	Hydronephrosis	HP:0000126
23299	BICD2	Skeletal muscle atrophy	HP:0003202
23299	BICD2	Hyperreflexia	HP:0001347
23299	BICD2	Areflexia	HP:0001284
23299	BICD2	Autosomal dominant inheritance	HP:0000006
23299	BICD2	Ventriculomegaly	HP:0002119
23299	BICD2	Cerebral cortical atrophy	HP:0002120
23299	BICD2	Hip contracture	HP:0003273
23299	BICD2	Fasciculations	HP:0002380
23299	BICD2	Polymicrogyria	HP:0002126
23299	BICD2	Waddling gait	HP:0002515
23299	BICD2	Toe walking	HP:0040083
23299	BICD2	Decreased fetal movement	HP:0001558
23299	BICD2	Difficulty running	HP:0009046
23299	BICD2	Midface retrusion	HP:0011800
23299	BICD2	Scoliosis	HP:0002650
23299	BICD2	Shoulder girdle muscle weakness	HP:0003547
23299	BICD2	Micrognathia	HP:0000347
23299	BICD2	Distal muscle weakness	HP:0002460
23299	BICD2	Congenital foot contraction deformities	HP:0005853
23299	BICD2	Hand muscle weakness	HP:0030237
23299	BICD2	Hypoplasia of the corpus callosum	HP:0002079
23299	BICD2	Talipes equinovarus	HP:0001762
23299	BICD2	Hand clenching	HP:0001188
23299	BICD2	Spinal muscular atrophy	HP:0007269
23299	BICD2	Hip dysplasia	HP:0001385
23299	BICD2	Spasticity	HP:0001257
23299	BICD2	Cerebellar hypoplasia	HP:0001321
23299	BICD2	Hyperlordosis	HP:0003307
23299	BICD2	Scapular winging	HP:0003691
23299	BICD2	Achilles tendon contracture	HP:0001771
23299	BICD2	Knee flexion contracture	HP:0006380
23299	BICD2	Severe muscular hypotonia	HP:0006829
23299	BICD2	Distal lower limb amyotrophy	HP:0008944
23299	BICD2	Hyporeflexia	HP:0001265
23299	BICD2	Difficulty walking	HP:0002355
23299	BICD2	Variable expressivity	HP:0003828
23299	BICD2	Arthrogryposis multiplex congenita	HP:0002804
23299	BICD2	Abnormality of the Achilles tendon	HP:0005109
23299	BICD2	Motor delay	HP:0001270
23299	BICD2	Kyphosis	HP:0002808
23299	BICD2	Congenital onset	HP:0003577
23299	BICD2	Respiratory insufficiency due to muscle weakness	HP:0002747
23299	BICD2	Overlapping fingers	HP:0010557
23299	BICD2	Respiratory failure	HP:0002878
23299	BICD2	Gowers sign	HP:0003391
23299	BICD2	Axial muscle weakness	HP:0003327
6916	TBXAS1	Refractory anemia	HP:0005505
6916	TBXAS1	Hyperostosis cranialis interna	HP:0005890
6916	TBXAS1	Prolonged bleeding time	HP:0003010
6916	TBXAS1	Ecchymosis	HP:0031364
6916	TBXAS1	Myelofibrosis	HP:0011974
6916	TBXAS1	Autosomal dominant inheritance	HP:0000006
6916	TBXAS1	Autosomal recessive inheritance	HP:0000007
6916	TBXAS1	Abnormality of femur morphology	HP:0002823
6916	TBXAS1	Craniofacial hyperostosis	HP:0004493
6916	TBXAS1	Splenomegaly	HP:0001744
6916	TBXAS1	Thrombocytopenia	HP:0001873
6916	TBXAS1	Bruising susceptibility	HP:0000978
6916	TBXAS1	Abnormality of pelvic girdle bone morphology	HP:0002644
6916	TBXAS1	Bowing of the long bones	HP:0006487
6916	TBXAS1	Bone marrow hypocellularity	HP:0005528
6916	TBXAS1	Leukopenia	HP:0001882
6916	TBXAS1	Diaphyseal thickening	HP:0005019
6916	TBXAS1	Diaphyseal dysplasia	HP:0100252
6916	TBXAS1	Abnormal cortical bone morphology	HP:0003103
6916	TBXAS1	Abnormality of immune system physiology	HP:0010978
6916	TBXAS1	Epistaxis	HP:0000421
6916	TBXAS1	Anemia	HP:0001903
6916	TBXAS1	Abnormality of the metaphysis	HP:0000944
6916	TBXAS1	Abnormal form of the vertebral bodies	HP:0003312
6916	TBXAS1	Abnormality of tibia morphology	HP:0002992
6916	TBXAS1	Decreased serum thromboxane B2	HP:0032244
6916	TBXAS1	Neurological speech impairment	HP:0002167
6916	TBXAS1	Increased bone mineral density	HP:0011001
285440	CYP4V2	Paracentral scotoma	HP:0030528
285440	CYP4V2	Progressive visual loss	HP:0000529
285440	CYP4V2	Retinal degeneration	HP:0000546
285440	CYP4V2	Chorioretinal atrophy	HP:0000533
285440	CYP4V2	Autosomal recessive inheritance	HP:0000007
285440	CYP4V2	Marginal corneal dystrophy	HP:0007880
285440	CYP4V2	High myopia	HP:0011003
285440	CYP4V2	Progressive night blindness	HP:0007675
285440	CYP4V2	Constriction of peripheral visual field	HP:0001133
285440	CYP4V2	Abnormality of blood and blood-forming tissues	HP:0001871
146183	OTOA	Autosomal recessive inheritance	HP:0000007
146183	OTOA	Sensorineural hearing impairment	HP:0000407
6925	TCF4	Hypoalbuminemia	HP:0003073
6925	TCF4	Palmar telangiectasia	HP:0100869
6925	TCF4	Ascites	HP:0001541
6925	TCF4	Autosomal dominant inheritance	HP:0000006
6925	TCF4	Incoordination	HP:0002311
6925	TCF4	Generalized hypotonia	HP:0001290
6925	TCF4	Intermittent hyperventilation	HP:0004879
6925	TCF4	Encephalopathy	HP:0001298
6925	TCF4	Gait ataxia	HP:0002066
6925	TCF4	Chronic hepatic failure	HP:0100626
6925	TCF4	Coarse facial features	HP:0000280
6925	TCF4	Esophagitis	HP:0100633
6925	TCF4	Cryptorchidism	HP:0000028
6925	TCF4	Hypopigmented skin patches	HP:0001053
6925	TCF4	Hypoplasia of the corpus callosum	HP:0002079
6925	TCF4	Weight loss	HP:0001824
6925	TCF4	Myopia	HP:0000545
6925	TCF4	Echolalia	HP:0010529
6925	TCF4	Broad fingertip	HP:0011300
6925	TCF4	Full cheeks	HP:0000293
6925	TCF4	Intellectual disability, moderate	HP:0002342
6925	TCF4	Thyroiditis	HP:0100646
6925	TCF4	Sleep apnea	HP:0010535
6925	TCF4	Acrocyanosis	HP:0001063
6925	TCF4	Vitamin A deficiency	HP:0004905
6925	TCF4	Type I diabetes mellitus	HP:0100651
6925	TCF4	Uveitis	HP:0000554
6925	TCF4	Abnormal autonomic nervous system physiology	HP:0012332
6925	TCF4	Celiac disease	HP:0002608
6925	TCF4	Specific learning disability	HP:0001328
6925	TCF4	Dysphasia	HP:0002357
6925	TCF4	Micropenis	HP:0000054
6925	TCF4	Cholelithiasis	HP:0001081
6925	TCF4	Overhanging nasal tip	HP:0011833
6925	TCF4	Absent speech	HP:0001344
6925	TCF4	Short philtrum	HP:0000322
6925	TCF4	Hyperventilation	HP:0002883
6925	TCF4	Upslanted palpebral fissure	HP:0000582
6925	TCF4	Aphasia	HP:0002381
6925	TCF4	Adenocarcinoma of the large intestine	HP:0040275
6925	TCF4	Hepatitis	HP:0012115
6925	TCF4	Renal insufficiency	HP:0000083
6925	TCF4	Finger clinodactyly	HP:0040019
6925	TCF4	Narrow forehead	HP:0000341
6925	TCF4	Fatigue	HP:0012378
6925	TCF4	Scoliosis	HP:0002650
6925	TCF4	Elevated hepatic transaminase	HP:0002910
6925	TCF4	Congestive heart failure	HP:0001635
6925	TCF4	Self-injurious behavior	HP:0100716
6925	TCF4	Intellectual disability, severe	HP:0010864
6925	TCF4	Cirrhosis	HP:0001394
6925	TCF4	Hepatic fibrosis	HP:0001395
6925	TCF4	Vitamin K deficiency	HP:0011892
6925	TCF4	Generalized amyotrophy	HP:0003700
6925	TCF4	Small hand	HP:0200055
6925	TCF4	Cupped ear	HP:0000378
6925	TCF4	Hepatocellular carcinoma	HP:0001402
6925	TCF4	Portal hypertension	HP:0001409
6925	TCF4	Polyclonal elevation of IgM	HP:0003459
6925	TCF4	Clinodactyly	HP:0030084
6925	TCF4	Thickened helices	HP:0000391
6925	TCF4	Elevated alkaline phosphatase of hepatic origin	HP:0010638
6925	TCF4	Autoimmunity	HP:0002960
6925	TCF4	Pes valgus	HP:0008081
6925	TCF4	Happy demeanor	HP:0040082
6925	TCF4	Fever	HP:0001945
6925	TCF4	Hepatosplenomegaly	HP:0001433
6925	TCF4	Pleural effusion	HP:0002202
6925	TCF4	Acute hepatic failure	HP:0006554
6925	TCF4	Wide mouth	HP:0000154
6925	TCF4	Abnormal large intestine physiology	HP:0012700
6925	TCF4	Hodgkin lymphoma	HP:0012189
6925	TCF4	Tapered finger	HP:0001182
6925	TCF4	Vitamin E deficiency	HP:0100513
6925	TCF4	Vitamin D deficiency	HP:0100512
6925	TCF4	Small cerebral cortex	HP:0002472
6925	TCF4	Osteopenia	HP:0000938
6925	TCF4	Prominent nasal bridge	HP:0000426
6925	TCF4	Osteoporosis	HP:0000939
6925	TCF4	Abnormal palate morphology	HP:0000174
6925	TCF4	Widely spaced teeth	HP:0000687
6925	TCF4	Wide nasal bridge	HP:0000431
6925	TCF4	Misalignment of teeth	HP:0000692
6925	TCF4	Ulcerative colitis	HP:0100279
6925	TCF4	Thick vermilion border	HP:0012471
6925	TCF4	Jaundice	HP:0000952
6925	TCF4	Single transverse palmar crease	HP:0000954
6925	TCF4	Hepatomegaly	HP:0002240
6925	TCF4	Feeding difficulties	HP:0011968
6925	TCF4	Clubbing	HP:0001217
6925	TCF4	Postnatal growth retardation	HP:0008897
6925	TCF4	Open mouth	HP:0000194
6925	TCF4	Triangular nasal tip	HP:0000451
6925	TCF4	Pancreatitis	HP:0001733
6925	TCF4	Cholangiocarcinoma	HP:0030153
6925	TCF4	Edema	HP:0000969
6925	TCF4	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
6925	TCF4	Aganglionic megacolon	HP:0002251
6925	TCF4	Depressivity	HP:0000716
6925	TCF4	Aggressive behavior	HP:0000718
6925	TCF4	Anteverted nares	HP:0000463
6925	TCF4	Splenomegaly	HP:0001744
6925	TCF4	Failure of eruption of permanent teeth	HP:0006352
6925	TCF4	Short neck	HP:0000470
6925	TCF4	Prolonged prothrombin time	HP:0008151
6925	TCF4	Dilated superficial abdominal veins	HP:0030168
6925	TCF4	Autistic behavior	HP:0000729
6925	TCF4	Pruritus	HP:0000989
6925	TCF4	Neoplasm of the gallbladder	HP:0100575
6925	TCF4	Seizures	HP:0001250
6925	TCF4	Pes planus	HP:0001763
6925	TCF4	Astigmatism	HP:0000483
6925	TCF4	Constipation	HP:0002019
6925	TCF4	Muscular hypotonia	HP:0001252
6925	TCF4	Gastroesophageal reflux	HP:0002020
6925	TCF4	Failure to thrive	HP:0001508
6925	TCF4	Strabismus	HP:0000486
6925	TCF4	Intellectual disability, progressive	HP:0006887
6925	TCF4	Deeply set eye	HP:0000490
6925	TCF4	Spider hemangioma	HP:0012522
6925	TCF4	Abdominal pain	HP:0002027
6925	TCF4	Global developmental delay	HP:0001263
6925	TCF4	Hiatus hernia	HP:0002036
6925	TCF4	Motor delay	HP:0001270
6925	TCF4	Short metatarsal	HP:0010743
6925	TCF4	Narrow foot	HP:0001786
6925	TCF4	Microcephaly	HP:0000252
6925	TCF4	Mutism	HP:0002300
6925	TCF4	Supernumerary nipple	HP:0002558
6926	TBX3	Pectus carinatum	HP:0000768
6926	TBX3	Abnormality of the radius	HP:0002818
6926	TBX3	Abnormality of the uterus	HP:0000130
6926	TBX3	Anterior pituitary hypoplasia	HP:0010627
6926	TBX3	Autosomal dominant inheritance	HP:0000006
6926	TBX3	Absent radius	HP:0003974
6926	TBX3	Hypoplastic toenails	HP:0001800
6926	TBX3	Deformed radius	HP:0003977
6926	TBX3	Postaxial hand polydactyly	HP:0001162
6926	TBX3	Abnormality of the metacarpal bones	HP:0001163
6926	TBX3	Camptodactyly of finger	HP:0100490
6926	TBX3	Short 5th toe	HP:0011917
6926	TBX3	Aplasia of the ulna	HP:0003982
6926	TBX3	Sprengel anomaly	HP:0000912
6926	TBX3	Decreased fertility	HP:0000144
6926	TBX3	Abnormality of temperature regulation	HP:0004370
6926	TBX3	Aplasia of the pectoralis major muscle	HP:0009751
6926	TBX3	Inguinal hernia	HP:0000023
6926	TBX3	Short distal phalanx of finger	HP:0009882
6926	TBX3	Arrhythmia	HP:0011675
6926	TBX3	Hypodontia	HP:0000668
6926	TBX3	Cryptorchidism	HP:0000028
6926	TBX3	Short 4th toe	HP:0008093
6926	TBX3	Hypoplasia of penis	HP:0008736
6926	TBX3	Short humerus	HP:0005792
6926	TBX3	Sparse axillary hair	HP:0002215
6926	TBX3	Hypoplasia of the radius	HP:0002984
6926	TBX3	Ectopic anus	HP:0004397
6926	TBX3	Absent axillary hair	HP:0002221
6926	TBX3	Breast aplasia	HP:0100783
6926	TBX3	Shawl scrotum	HP:0000049
6926	TBX3	Micropenis	HP:0000054
6926	TBX3	Delayed puberty	HP:0000823
6926	TBX3	Imperforate hymen	HP:0030011
6926	TBX3	Laryngomalacia	HP:0001601
6926	TBX3	Subglottic stenosis	HP:0001607
6926	TBX3	Hernia of the abdominal wall	HP:0004299
6926	TBX3	Abnormality of the wrist	HP:0003019
6926	TBX3	Hypoplasia of the ulna	HP:0003022
6926	TBX3	Abnormal fingernail morphology	HP:0001231
6926	TBX3	Absent hand	HP:0004050
6926	TBX3	Renal hypoplasia	HP:0000089
6926	TBX3	Sparse lateral eyebrow	HP:0005338
6926	TBX3	Ventricular septal defect	HP:0001629
6926	TBX3	Aplasia/Hypoplasia of the ulna	HP:0006495
6926	TBX3	Short stature	HP:0004322
6926	TBX3	Pyloric stenosis	HP:0002021
6926	TBX3	Axillary apocrine gland hypoplasia	HP:0007397
6926	TBX3	Anal atresia	HP:0002023
6926	TBX3	Obesity	HP:0001513
6926	TBX3	Anal stenosis	HP:0002025
6926	TBX3	Ectopic posterior pituitary	HP:0011755
6926	TBX3	Hypoplastic scapulae	HP:0000882
6926	TBX3	Inverted nipples	HP:0003186
6926	TBX3	Breast hypoplasia	HP:0003187
6926	TBX3	Abnormality of the humerus	HP:0003063
6926	TBX3	Abnormality of the clavicle	HP:0000889
6926	TBX3	Hypoplastic nipples	HP:0002557
6926	TBX3	Short clavicles	HP:0000894
23310	NCAPD3	Seizures	HP:0001250
23310	NCAPD3	Short stature	HP:0004322
23310	NCAPD3	Hyperreflexia	HP:0001347
23310	NCAPD3	Hypoplasia of the frontal lobes	HP:0007333
23310	NCAPD3	Upslanted palpebral fissure	HP:0000582
23310	NCAPD3	Autosomal recessive inheritance	HP:0000007
23310	NCAPD3	Ventriculomegaly	HP:0002119
23310	NCAPD3	Gray matter heterotopia	HP:0002282
23310	NCAPD3	Vesicoureteral reflux	HP:0000076
23310	NCAPD3	Global developmental delay	HP:0001263
23310	NCAPD3	Intellectual disability, severe	HP:0010864
23310	NCAPD3	Sloping forehead	HP:0000340
23310	NCAPD3	Pachygyria	HP:0001302
23310	NCAPD3	Unilateral renal agenesis	HP:0000122
23310	NCAPD3	Agenesis of corpus callosum	HP:0001274
23310	NCAPD3	Thin upper lip vermilion	HP:0000219
23310	NCAPD3	Microcephaly	HP:0000252
23310	NCAPD3	Abnormal cortical bone morphology	HP:0003103
6927	HNF1A	Hepatomegaly	HP:0002240
6927	HNF1A	Hypoketotic hypoglycemia	HP:0001985
6927	HNF1A	Hyperglycemia	HP:0003074
6927	HNF1A	Autosomal dominant inheritance	HP:0000006
6927	HNF1A	Abnormal circulating fatty-acid concentration	HP:0004359
6927	HNF1A	Infantile onset	HP:0003593
6927	HNF1A	Agitation	HP:0000713
6927	HNF1A	Neonatal hypoglycemia	HP:0001998
6927	HNF1A	Hyperhidrosis	HP:0000975
6927	HNF1A	Renal cell carcinoma	HP:0005584
6927	HNF1A	Polycystic ovaries	HP:0000147
6927	HNF1A	Pallor	HP:0000980
6927	HNF1A	Drowsiness	HP:0002329
6927	HNF1A	Type II diabetes mellitus	HP:0005978
6927	HNF1A	Fatigue	HP:0012378
6927	HNF1A	Fasting hypoglycemia	HP:0003162
6927	HNF1A	Vomiting	HP:0002013
6927	HNF1A	Elevated hepatic transaminase	HP:0002910
6927	HNF1A	Pancreatic islet-cell hyperplasia	HP:0004510
6927	HNF1A	Diarrhea	HP:0002014
6927	HNF1A	Sporadic	HP:0003745
6927	HNF1A	Intellectual disability	HP:0001249
6927	HNF1A	Seizures	HP:0001250
6927	HNF1A	Lethargy	HP:0001254
6927	HNF1A	Neonatal hypotonia	HP:0001319
6927	HNF1A	Maturity-onset diabetes of the young	HP:0004904
6927	HNF1A	Progressive neurologic deterioration	HP:0002344
6927	HNF1A	Type I diabetes mellitus	HP:0100651
6927	HNF1A	Coma	HP:0001259
6927	HNF1A	Large for gestational age	HP:0001520
6927	HNF1A	Tachycardia	HP:0001649
6927	HNF1A	Tremor	HP:0001337
6927	HNF1A	Hyperinsulinemic hypoglycemia	HP:0000825
6927	HNF1A	Hepatocellular adenoma	HP:0012028
6928	HNF1B	Late onset	HP:0003584
6928	HNF1B	Multiple glomerular cysts	HP:0100611
6928	HNF1B	Multicystic kidney dysplasia	HP:0000003
6928	HNF1B	Glycosuria	HP:0003076
6928	HNF1B	Autosomal dominant inheritance	HP:0000006
6928	HNF1B	Cerebral atrophy	HP:0002059
6928	HNF1B	Hypoplasia of the uterus	HP:0000013
6928	HNF1B	Nephrolithiasis	HP:0000787
6928	HNF1B	Atretic vas deferens	HP:0030997
6928	HNF1B	Oligohydramnios	HP:0001562
6928	HNF1B	Abnormality of alkaline phosphatase activity	HP:0004379
6928	HNF1B	Cryptorchidism	HP:0000028
6928	HNF1B	Language impairment	HP:0002463
6928	HNF1B	Pancreatic hypoplasia	HP:0002594
6928	HNF1B	Polydipsia	HP:0001959
6928	HNF1B	Maturity-onset diabetes of the young	HP:0004904
6928	HNF1B	Bicornuate uterus	HP:0000813
6928	HNF1B	Hypospadias	HP:0000047
6928	HNF1B	Reduced sperm motility	HP:0012207
6928	HNF1B	Mandibular prognathia	HP:0000303
6928	HNF1B	Shawl scrotum	HP:0000049
6928	HNF1B	Diabetes mellitus	HP:0000819
6928	HNF1B	Hypothyroidism	HP:0000821
6928	HNF1B	Biliary tract abnormality	HP:0001080
6928	HNF1B	Jaundice	HP:0000952
6928	HNF1B	Elevated serum creatinine	HP:0003259
6928	HNF1B	Decreased numbers of nephrons	HP:0005563
6928	HNF1B	Joint hyperflexibility	HP:0005692
6928	HNF1B	Abnormality of exocrine pancreas physiology	HP:0012092
6928	HNF1B	Abnormality of endocrine pancreas physiology	HP:0012093
6928	HNF1B	Stage 5 chronic kidney disease	HP:0003774
6928	HNF1B	Pancreatic aplasia	HP:0100801
6928	HNF1B	Feeding difficulties	HP:0011968
6928	HNF1B	Aplasia/Hypoplasia of the pancreas	HP:0100800
6928	HNF1B	Ureterocele	HP:0000070
6928	HNF1B	Cerebral cortical atrophy	HP:0002120
6928	HNF1B	Absent vas deferens	HP:0012873
6928	HNF1B	Exocrine pancreatic insufficiency	HP:0001738
6928	HNF1B	Ureteropelvic junction obstruction	HP:0000074
6928	HNF1B	Renal Fanconi syndrome	HP:0001994
6928	HNF1B	Decreased waist to hip ratio	HP:0031820
6928	HNF1B	Gout	HP:0001997
6928	HNF1B	Autism	HP:0000717
6928	HNF1B	Renal cell carcinoma	HP:0005584
6928	HNF1B	Renal insufficiency	HP:0000083
6928	HNF1B	Horseshoe kidney	HP:0000085
6928	HNF1B	Glomerulopathy	HP:0100820
6928	HNF1B	Insulin resistance	HP:0000855
6928	HNF1B	Epididymal cyst	HP:0030424
6928	HNF1B	Renal hypoplasia	HP:0000089
6928	HNF1B	Arthritis	HP:0001369
6928	HNF1B	Type II diabetes mellitus	HP:0005978
6928	HNF1B	Proteinuria	HP:0000093
6928	HNF1B	Elevated hepatic transaminase	HP:0002910
6928	HNF1B	Intellectual disability	HP:0001249
6928	HNF1B	Seizures	HP:0001250
6928	HNF1B	Short stature	HP:0004322
6928	HNF1B	Hyperuricemia	HP:0002149
6928	HNF1B	Pyloric stenosis	HP:0002021
6928	HNF1B	Renal hypoplasia/aplasia	HP:0008678
6928	HNF1B	Renal agenesis	HP:0000104
6928	HNF1B	Renal cyst	HP:0000107
6928	HNF1B	Hearing impairment	HP:0000365
6928	HNF1B	Global developmental delay	HP:0001263
6928	HNF1B	Large fontanelles	HP:0000239
6928	HNF1B	Papillary cystadenoma of the epididymis	HP:0009715
6928	HNF1B	Hepatic steatosis	HP:0001397
6928	HNF1B	Unilateral renal agenesis	HP:0000122
6928	HNF1B	Subcortical cerebral atrophy	HP:0012157
6928	HNF1B	Acute kidney injury	HP:0001919
23312	DMXL2	Postnatal growth retardation	HP:0008897
23312	DMXL2	Progressive hearing impairment	HP:0001730
23312	DMXL2	Short stature	HP:0004322
23312	DMXL2	Ataxia	HP:0001251
23312	DMXL2	Autosomal dominant inheritance	HP:0000006
23312	DMXL2	Intellectual disability, moderate	HP:0002342
23312	DMXL2	Autosomal recessive inheritance	HP:0000007
23312	DMXL2	Hypogonadism	HP:0000135
23312	DMXL2	Cerebellar hypoplasia	HP:0001321
23312	DMXL2	Central hypothyroidism	HP:0011787
23312	DMXL2	Dysarthria	HP:0001260
23312	DMXL2	Dystonia	HP:0001332
23312	DMXL2	Motor delay	HP:0001270
23312	DMXL2	Polyneuropathy	HP:0001271
23312	DMXL2	Hypoglycemia	HP:0001943
23312	DMXL2	Progressive	HP:0003676
6929	TCF3	Osteomyelitis	HP:0002754
6929	TCF3	Chronic otitis media	HP:0000389
6929	TCF3	Autosomal dominant inheritance	HP:0000006
6929	TCF3	Meningitis	HP:0001287
6929	TCF3	Sepsis	HP:0100806
6929	TCF3	Infantile onset	HP:0003593
6929	TCF3	Agammaglobulinemia	HP:0004432
6929	TCF3	Recurrent otitis media	HP:0000403
6929	TCF3	Neutropenia	HP:0001875
6929	TCF3	Hepatitis	HP:0012115
6929	TCF3	Dehydration	HP:0001944
6929	TCF3	Arthritis	HP:0001369
6929	TCF3	Fever	HP:0001945
6929	TCF3	High palate	HP:0000218
6929	TCF3	Fatigue	HP:0012378
6929	TCF3	Skin rash	HP:0000988
6929	TCF3	Recurrent respiratory infections	HP:0002205
6929	TCF3	Diarrhea	HP:0002014
6929	TCF3	Epicanthus	HP:0000286
6929	TCF3	B lymphocytopenia	HP:0010976
6929	TCF3	Immunodeficiency	HP:0002721
6929	TCF3	Failure to thrive	HP:0001508
6929	TCF3	Malabsorption	HP:0002024
6929	TCF3	Verrucae	HP:0200043
6929	TCF3	Recurrent skin infections	HP:0001581
6929	TCF3	Cellulitis	HP:0100658
6929	TCF3	Sinusitis	HP:0000246
6929	TCF3	Hypertelorism	HP:0000316
6929	TCF3	External ear malformation	HP:0008572
6929	TCF3	Conjunctivitis	HP:0000509
6929	TCF3	Bronchiectasis	HP:0002110
6929	TCF3	Cough	HP:0012735
23314	SATB2	Sparse hair	HP:0008070
23314	SATB2	Autosomal dominant inheritance	HP:0000006
23314	SATB2	Arachnodactyly	HP:0001166
23314	SATB2	Malar flattening	HP:0000272
23314	SATB2	Happy demeanor	HP:0040082
23314	SATB2	Long face	HP:0000276
23314	SATB2	Inguinal hernia	HP:0000023
23314	SATB2	Midface retrusion	HP:0011800
23314	SATB2	Bulbous nose	HP:0000414
23314	SATB2	Decreased testicular size	HP:0008734
23314	SATB2	Narrow mouth	HP:0000160
23314	SATB2	Oligodontia	HP:0000677
23314	SATB2	Fine hair	HP:0002213
23314	SATB2	Dental crowding	HP:0000678
23314	SATB2	Broad thumb	HP:0011304
23314	SATB2	Prominent nasal bridge	HP:0000426
23314	SATB2	Cleft palate	HP:0000175
23314	SATB2	Sleep disturbance	HP:0002360
23314	SATB2	Conspicuously happy disposition	HP:0100024
23314	SATB2	Conical tooth	HP:0000698
23314	SATB2	Convex nasal ridge	HP:0000444
23314	SATB2	Joint hyperflexibility	HP:0005692
23314	SATB2	Smooth philtrum	HP:0000319
23314	SATB2	Feeding difficulties	HP:0011968
23314	SATB2	Thin skin	HP:0000963
23314	SATB2	Facial asymmetry	HP:0000324
23314	SATB2	Toe clinodactyly	HP:0001863
23314	SATB2	Broad hallux phalanx	HP:0010059
23314	SATB2	Narrow nose	HP:0000460
23314	SATB2	Autism	HP:0000717
23314	SATB2	Aggressive behavior	HP:0000718
23314	SATB2	Anteverted nares	HP:0000463
23314	SATB2	Frontal bossing	HP:0002007
23314	SATB2	Long philtrum	HP:0000343
23314	SATB2	Broad-based gait	HP:0002136
23314	SATB2	High palate	HP:0000218
23314	SATB2	Micrognathia	HP:0000347
23314	SATB2	High forehead	HP:0000348
23314	SATB2	Camptodactyly	HP:0012385
23314	SATB2	Intellectual disability	HP:0001249
23314	SATB2	Short stature	HP:0004322
23314	SATB2	Seizures	HP:0001250
23314	SATB2	Talipes equinovarus	HP:0001762
23314	SATB2	Anxiety	HP:0000739
23314	SATB2	Muscular hypotonia	HP:0001252
23314	SATB2	Strabismus	HP:0000486
23314	SATB2	Thin vermilion border	HP:0000233
23314	SATB2	Attention deficit hyperactivity disorder	HP:0007018
23314	SATB2	Downslanted palpebral fissures	HP:0000494
23314	SATB2	Delayed speech and language development	HP:0000750
23314	SATB2	Global developmental delay	HP:0001263
23314	SATB2	Hyperactivity	HP:0000752
23314	SATB2	Intellectual disability, severe	HP:0010864
23314	SATB2	Low-set ears	HP:0000369
23314	SATB2	Clinodactyly of the 5th finger	HP:0004209
23314	SATB2	Incomprehensible speech	HP:0002546
23314	SATB2	Nail dysplasia	HP:0002164
23314	SATB2	Long nose	HP:0003189
23314	SATB2	Brachycephaly	HP:0000248
23314	SATB2	Microcephaly	HP:0000252
23316	CUX2	Athetosis	HP:0002305
23316	CUX2	Generalized tonic seizures	HP:0010818
23316	CUX2	Atonic seizures	HP:0010819
23316	CUX2	Epileptic encephalopathy	HP:0200134
23316	CUX2	Gait disturbance	HP:0001288
23316	CUX2	Absence seizure	HP:0002121
23316	CUX2	Infantile onset	HP:0003593
23316	CUX2	Generalized myoclonic seizures	HP:0002123
23316	CUX2	Aggressive behavior	HP:0000718
23316	CUX2	Encephalopathy	HP:0001298
23316	CUX2	Generalized tonic-clonic seizures	HP:0002069
23316	CUX2	Autistic behavior	HP:0000729
23316	CUX2	Hypsarrhythmia	HP:0002521
23316	CUX2	Falls	HP:0002527
23316	CUX2	Intellectual disability	HP:0001249
23316	CUX2	Atypical absence seizure	HP:0007270
23316	CUX2	Personality disorder	HP:0012075
23316	CUX2	Global developmental delay	HP:0001263
23316	CUX2	Hyperactivity	HP:0000752
23316	CUX2	Mental deterioration	HP:0001268
23316	CUX2	Dyskinesia	HP:0100660
23316	CUX2	Myoclonus	HP:0001336
23316	CUX2	Abnormality of brainstem morphology	HP:0002363
23316	CUX2	EEG with focal sharp slow waves	HP:0011195
23316	CUX2	Focal-onset seizure	HP:0007359
23317	DNAJC13	Akinesia	HP:0002304
23317	DNAJC13	Muscle spasm	HP:0003394
23317	DNAJC13	Cerebral cortical atrophy	HP:0002120
23317	DNAJC13	Agitation	HP:0000713
23317	DNAJC13	Monotonic speech	HP:0031435
23317	DNAJC13	Diplopia	HP:0000651
23317	DNAJC13	Depressivity	HP:0000716
23317	DNAJC13	Rigidity	HP:0002063
23317	DNAJC13	Schizophrenia	HP:0100753
23317	DNAJC13	Resting tremor	HP:0002322
23317	DNAJC13	Hypomimic face	HP:0000338
23317	DNAJC13	Bradykinesia	HP:0002067
23317	DNAJC13	Dementia	HP:0000726
23317	DNAJC13	Lewy bodies	HP:0100315
23317	DNAJC13	Spastic/hyperactive bladder	HP:0005340
23317	DNAJC13	Dysphagia	HP:0002015
23317	DNAJC13	Weight loss	HP:0001824
23317	DNAJC13	Chronic constipation	HP:0012450
23317	DNAJC13	Apathy	HP:0000741
23317	DNAJC13	Impulsivity	HP:0100710
23317	DNAJC13	Low frustration tolerance	HP:0000744
23317	DNAJC13	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
23317	DNAJC13	Dystonia	HP:0001332
23317	DNAJC13	Dyskinesia	HP:0100660
23317	DNAJC13	Frequent falls	HP:0002359
23317	DNAJC13	Sleep disturbance	HP:0002360
23317	DNAJC13	Hyposmia	HP:0004409
23317	DNAJC13	Shuffling gait	HP:0002362
23317	DNAJC13	Gliosis	HP:0002171
23317	DNAJC13	Postural instability	HP:0002172
23317	DNAJC13	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
23317	DNAJC13	Visual hallucinations	HP:0002367
6935	ZEB1	Corneal guttata	HP:0012038
6935	ZEB1	Autosomal dominant inheritance	HP:0000006
6935	ZEB1	Inguinal hernia	HP:0000023
6935	ZEB1	Corneal stromal edema	HP:0012040
6935	ZEB1	Corneal dystrophy	HP:0001131
6935	ZEB1	Keratitis	HP:0000491
6935	ZEB1	Reduced visual acuity	HP:0007663
203547	VMA21	Skeletal muscle atrophy	HP:0003202
203547	VMA21	Proximal muscle weakness in lower limbs	HP:0008994
203547	VMA21	Elevated serum creatine kinase	HP:0003236
203547	VMA21	Limited extraocular movements	HP:0007941
203547	VMA21	Neonatal hypotonia	HP:0001319
203547	VMA21	X-linked recessive inheritance	HP:0001419
203547	VMA21	Respiratory insufficiency	HP:0002093
203547	VMA21	Incomplete penetrance	HP:0003829
203547	VMA21	Myotonia	HP:0002486
203547	VMA21	Difficulty running	HP:0009046
203547	VMA21	Motor delay	HP:0001270
203547	VMA21	Scoliosis	HP:0002650
203547	VMA21	Flexion contracture	HP:0001371
203547	VMA21	Slow progression	HP:0003677
203547	VMA21	Myopathy	HP:0003198
203547	VMA21	Gowers sign	HP:0003391
203547	VMA21	Difficulty climbing stairs	HP:0003551
23321	TRIM2	Pes cavus	HP:0001761
23321	TRIM2	Talipes equinovarus	HP:0001762
23321	TRIM2	Areflexia	HP:0001284
23321	TRIM2	Vocal cord paralysis	HP:0001605
23321	TRIM2	Autosomal recessive inheritance	HP:0000007
23321	TRIM2	Generalized hypotonia	HP:0001290
23321	TRIM2	Knee flexion contracture	HP:0006380
23321	TRIM2	Inability to walk	HP:0002540
23321	TRIM2	Muscle weakness	HP:0001324
23321	TRIM2	Respiratory insufficiency	HP:0002093
23321	TRIM2	Axonal degeneration	HP:0040078
23321	TRIM2	Decreased number of peripheral myelinated nerve fibers	HP:0003380
23321	TRIM2	Peripheral axonal neuropathy	HP:0003477
23321	TRIM2	Broad-based gait	HP:0002136
23321	TRIM2	Tracheomalacia	HP:0002779
23321	TRIM2	Decreased muscle mass	HP:0003199
23322	RPGRIP1L	Macrocephaly	HP:0000256
23322	RPGRIP1L	Multicystic kidney dysplasia	HP:0000003
23322	RPGRIP1L	Cataract	HP:0000518
23322	RPGRIP1L	Autosomal recessive inheritance	HP:0000007
23322	RPGRIP1L	Gait disturbance	HP:0001288
23322	RPGRIP1L	Infantile onset	HP:0003593
23322	RPGRIP1L	Generalized hypotonia	HP:0001290
23322	RPGRIP1L	Anophthalmia	HP:0000528
23322	RPGRIP1L	Anencephaly	HP:0002323
23322	RPGRIP1L	Chronic hepatic failure	HP:0100626
23322	RPGRIP1L	Abnormal chorioretinal morphology	HP:0000532
23322	RPGRIP1L	Long face	HP:0000276
23322	RPGRIP1L	Inguinal hernia	HP:0000023
23322	RPGRIP1L	Dandy-Walker malformation	HP:0001305
23322	RPGRIP1L	Oligohydramnios	HP:0001562
23322	RPGRIP1L	Cryptorchidism	HP:0000028
23322	RPGRIP1L	Encephalocele	HP:0002084
23322	RPGRIP1L	Male pseudohermaphroditism	HP:0000037
23322	RPGRIP1L	Full cheeks	HP:0000293
23322	RPGRIP1L	Occipital encephalocele	HP:0002085
23322	RPGRIP1L	Postaxial foot polydactyly	HP:0001830
23322	RPGRIP1L	Intellectual disability, moderate	HP:0002342
23322	RPGRIP1L	Cerebellar vermis hypoplasia	HP:0001320
23322	RPGRIP1L	Retinal dystrophy	HP:0000556
23322	RPGRIP1L	Cystic liver disease	HP:0006706
23322	RPGRIP1L	Congenital hepatic fibrosis	HP:0002612
23322	RPGRIP1L	Hypertension	HP:0000822
23322	RPGRIP1L	Aplasia/Hypoplasia of the tongue	HP:0010295
23322	RPGRIP1L	Central apnea	HP:0002871
23322	RPGRIP1L	Chorioretinal coloboma	HP:0000567
23322	RPGRIP1L	Round face	HP:0000311
23322	RPGRIP1L	Microphthalmia	HP:0000568
23322	RPGRIP1L	Apnea	HP:0002104
23322	RPGRIP1L	Tremor	HP:0001337
23322	RPGRIP1L	Dilatation	HP:0002617
23322	RPGRIP1L	Hypertelorism	HP:0000316
23322	RPGRIP1L	Episodic tachypnea	HP:0002876
23322	RPGRIP1L	Hypoplasia of the brainstem	HP:0002365
23322	RPGRIP1L	Hyperreflexia	HP:0001347
23322	RPGRIP1L	Urethral atresia	HP:0000068
23322	RPGRIP1L	Biparietal narrowing	HP:0004422
23322	RPGRIP1L	Ureteral duplication	HP:0000073
23322	RPGRIP1L	Optic nerve coloboma	HP:0000588
23322	RPGRIP1L	Coloboma	HP:0000589
23322	RPGRIP1L	Polymicrogyria	HP:0002126
23322	RPGRIP1L	Abnormality of the urinary system	HP:0000079
23322	RPGRIP1L	Neoplasm of the liver	HP:0002896
23322	RPGRIP1L	Renal insufficiency	HP:0000083
23322	RPGRIP1L	Sloping forehead	HP:0000340
23322	RPGRIP1L	Bowing of the long bones	HP:0006487
23322	RPGRIP1L	Scoliosis	HP:0002650
23322	RPGRIP1L	Nephronophthisis	HP:0000090
23322	RPGRIP1L	Micrognathia	HP:0000347
23322	RPGRIP1L	Talipes	HP:0001883
23322	RPGRIP1L	Elevated hepatic transaminase	HP:0002910
23322	RPGRIP1L	Abnormality of the hypothalamus-pituitary axis	HP:0000864
23322	RPGRIP1L	Iris coloboma	HP:0000612
23322	RPGRIP1L	Renal cyst	HP:0000107
23322	RPGRIP1L	Low-set, posteriorly rotated ears	HP:0000368
23322	RPGRIP1L	Nephropathy	HP:0000112
23322	RPGRIP1L	Low-set ears	HP:0000369
23322	RPGRIP1L	Cirrhosis	HP:0001394
23322	RPGRIP1L	Molar tooth sign on MRI	HP:0002419
23322	RPGRIP1L	Hepatic fibrosis	HP:0001395
23322	RPGRIP1L	Aplasia/Hypoplasia of the iris	HP:0008053
23322	RPGRIP1L	Pancreatic fibrosis	HP:0100732
23322	RPGRIP1L	Nystagmus	HP:0000639
23322	RPGRIP1L	Bile duct proliferation	HP:0001408
23322	RPGRIP1L	Intrahepatic biliary atresia	HP:0005248
23322	RPGRIP1L	Portal hypertension	HP:0001409
23322	RPGRIP1L	Sclerocornea	HP:0000647
23322	RPGRIP1L	Optic atrophy	HP:0000648
23322	RPGRIP1L	Hand polydactyly	HP:0001161
23322	RPGRIP1L	Postaxial hand polydactyly	HP:0001162
23322	RPGRIP1L	Heterogeneous	HP:0001425
23322	RPGRIP1L	Oculomotor apraxia	HP:0000657
23322	RPGRIP1L	Preaxial hand polydactyly	HP:0001177
23322	RPGRIP1L	Wide mouth	HP:0000154
23322	RPGRIP1L	Abnormality of abdomen morphology	HP:0001438
23322	RPGRIP1L	Situs inversus totalis	HP:0001696
23322	RPGRIP1L	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
23322	RPGRIP1L	Feeding difficulties in infancy	HP:0008872
23322	RPGRIP1L	Prominent nasal bridge	HP:0000426
23322	RPGRIP1L	Cleft palate	HP:0000175
23322	RPGRIP1L	Hepatomegaly	HP:0002240
23322	RPGRIP1L	Aplasia/Hypoplasia of the cerebellum	HP:0007360
23322	RPGRIP1L	Feeding difficulties	HP:0011968
23322	RPGRIP1L	Pancreatic cysts	HP:0001737
23322	RPGRIP1L	Depressed nasal ridge	HP:0000457
23322	RPGRIP1L	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
23322	RPGRIP1L	Oral cleft	HP:0000202
23322	RPGRIP1L	Aganglionic megacolon	HP:0002251
23322	RPGRIP1L	Cleft upper lip	HP:0000204
23322	RPGRIP1L	Brainstem dysplasia	HP:0002508
23322	RPGRIP1L	Anteverted nares	HP:0000463
23322	RPGRIP1L	Splenomegaly	HP:0001744
23322	RPGRIP1L	Asplenia	HP:0001746
23322	RPGRIP1L	Accessory spleen	HP:0001747
23322	RPGRIP1L	Multiple small medullary renal cysts	HP:0008659
23322	RPGRIP1L	Lobar holoprosencephaly	HP:0006870
23322	RPGRIP1L	Abnormality of cardiovascular system morphology	HP:0030680
23322	RPGRIP1L	True hermaphroditism	HP:0010459
23322	RPGRIP1L	Furrowed tongue	HP:0000221
23322	RPGRIP1L	Abnormality of neuronal migration	HP:0002269
23322	RPGRIP1L	Intellectual disability	HP:0001249
23322	RPGRIP1L	Microcornea	HP:0000482
23322	RPGRIP1L	Seizures	HP:0001250
23322	RPGRIP1L	Ataxia	HP:0001251
23322	RPGRIP1L	Muscular hypotonia	HP:0001252
23322	RPGRIP1L	Neonatal breathing dysregulation	HP:0002790
23322	RPGRIP1L	Strabismus	HP:0000486
23322	RPGRIP1L	Growth delay	HP:0001510
23322	RPGRIP1L	Spasticity	HP:0001257
23322	RPGRIP1L	Hydrocephalus	HP:0000238
23322	RPGRIP1L	Global developmental delay	HP:0001263
23322	RPGRIP1L	Abnormal corpus callosum morphology	HP:0001273
23322	RPGRIP1L	Visual impairment	HP:0000505
23322	RPGRIP1L	Highly arched eyebrow	HP:0002553
23322	RPGRIP1L	Agenesis of corpus callosum	HP:0001274
23322	RPGRIP1L	Microcephaly	HP:0000252
23322	RPGRIP1L	Ptosis	HP:0000508
6938	TCF12	Macrocephaly	HP:0000256
6938	TCF12	Brachydactyly	HP:0001156
6938	TCF12	Facial asymmetry	HP:0000324
6938	TCF12	Autosomal dominant inheritance	HP:0000006
6938	TCF12	Proptosis	HP:0000520
6938	TCF12	Autism	HP:0000717
6938	TCF12	Plagiocephaly	HP:0001357
6938	TCF12	Broad forehead	HP:0000337
6938	TCF12	Craniosynostosis	HP:0001363
6938	TCF12	Increased intracranial pressure	HP:0002516
6938	TCF12	Frontal bossing	HP:0002007
6938	TCF12	Midface retrusion	HP:0011800
6938	TCF12	Hallux valgus	HP:0001822
6938	TCF12	Intellectual disability	HP:0001249
6938	TCF12	Underdeveloped supraorbital ridges	HP:0009891
6938	TCF12	Visual field defect	HP:0001123
6938	TCF12	Metacarpal synostosis	HP:0009701
6938	TCF12	Low anterior hairline	HP:0000294
6938	TCF12	Strabismus	HP:0000486
6938	TCF12	Hearing impairment	HP:0000365
6938	TCF12	Global developmental delay	HP:0001263
6938	TCF12	Brachycephaly	HP:0000248
6938	TCF12	Single transverse palmar crease	HP:0000954
6938	TCF12	Hypertelorism	HP:0000316
6938	TCF12	Ptosis	HP:0000508
146206	CARMIL2	Ichthyosis	HP:0008064
146206	CARMIL2	Recurrent aphthous stomatitis	HP:0011107
146206	CARMIL2	Molluscum contagiosum	HP:0032163
146206	CARMIL2	Chronic mucocutaneous candidiasis	HP:0002728
146206	CARMIL2	Verrucae	HP:0200043
146206	CARMIL2	Atrophic scars	HP:0001075
146206	CARMIL2	Asthma	HP:0002099
146206	CARMIL2	Chronic bronchitis	HP:0004469
146206	CARMIL2	Colitis	HP:0002583
146206	CARMIL2	Esophagitis	HP:0100633
146206	CARMIL2	Decreased antibody level in blood	HP:0004313
146206	CARMIL2	Seborrheic dermatitis	HP:0001051
146206	CARMIL2	Scaling skin	HP:0040189
146206	CARMIL2	Diarrhea	HP:0002014
146206	CARMIL2	Bronchiectasis	HP:0002110
146206	CARMIL2	Dysphagia	HP:0002015
23325	WASHC4	Intellectual disability	HP:0001249
23325	WASHC4	Short stature	HP:0004322
23325	WASHC4	Autosomal recessive inheritance	HP:0000007
23325	WASHC4	Spasticity	HP:0001257
23325	WASHC4	Global developmental delay	HP:0001263
23327	NEDD4L	Absent speech	HP:0001344
23327	NEDD4L	Intellectual disability	HP:0001249
23327	NEDD4L	Seizures	HP:0001250
23327	NEDD4L	Autosomal dominant inheritance	HP:0000006
23327	NEDD4L	Strabismus	HP:0000486
23327	NEDD4L	Optic atrophy	HP:0000648
23327	NEDD4L	Muscular hypotonia of the trunk	HP:0008936
23327	NEDD4L	Gray matter heterotopia	HP:0002282
23327	NEDD4L	Cortical dysplasia	HP:0002539
23327	NEDD4L	Hearing impairment	HP:0000365
23327	NEDD4L	Cleft palate	HP:0000175
23327	NEDD4L	Global developmental delay	HP:0001263
23327	NEDD4L	Abnormal facial shape	HP:0001999
23327	NEDD4L	2-3 toe syndactyly	HP:0004691
23327	NEDD4L	Congenital onset	HP:0003577
23327	NEDD4L	Flexion contracture	HP:0001371
23327	NEDD4L	Micrognathia	HP:0000347
23327	NEDD4L	Cryptorchidism	HP:0000028
23327	NEDD4L	Hypoplasia of the corpus callosum	HP:0002079
23328	SASH1	Hyperpigmented/hypopigmented macules	HP:0007441
23328	SASH1	Autosomal dominant inheritance	HP:0000006
23328	SASH1	Infantile onset	HP:0003593
6945	MLX	Vasculitis	HP:0002633
6945	MLX	Subcutaneous nodule	HP:0001482
6945	MLX	Chest pain	HP:0100749
6945	MLX	Arthralgia	HP:0002829
6945	MLX	Cerebral ischemia	HP:0002637
6945	MLX	Hyperhidrosis	HP:0000975
6945	MLX	Abnormal endocardium morphology	HP:0004306
6945	MLX	Reduced consciousness/confusion	HP:0004372
6945	MLX	Gangrene	HP:0100758
6945	MLX	Fever	HP:0001945
6945	MLX	Arthritis	HP:0001369
6945	MLX	Fatigue	HP:0012378
6945	MLX	Migraine	HP:0002076
6945	MLX	Weight loss	HP:0001824
6945	MLX	Amaurosis fugax	HP:0100576
6945	MLX	Seizures	HP:0001250
6945	MLX	Hypertrophic cardiomyopathy	HP:0001639
6945	MLX	Retinopathy	HP:0000488
6945	MLX	Abnormal pattern of respiration	HP:0002793
6945	MLX	Skin ulcer	HP:0200042
6945	MLX	Ascending tubular aorta aneurysm	HP:0004970
6945	MLX	Pulmonary arterial hypertension	HP:0002092
6945	MLX	Muscle weakness	HP:0001324
6945	MLX	Abnormal aortic valve morphology	HP:0001646
6945	MLX	Anemia	HP:0001903
6945	MLX	Inflammatory abnormality of the eye	HP:0100533
6945	MLX	Anorexia	HP:0002039
6945	MLX	Neurological speech impairment	HP:0002167
6945	MLX	Hemoptysis	HP:0002105
6945	MLX	Myocardial infarction	HP:0001658
6945	MLX	Gastrointestinal infarctions	HP:0005244
6945	MLX	Hypertensive crisis	HP:0100735
6945	MLX	Myalgia	HP:0003326
6948	TCN2	Lymphopenia	HP:0001888
6948	TCN2	Decreased circulating IgA level	HP:0002720
6948	TCN2	Irritability	HP:0000737
6948	TCN2	Intellectual disability	HP:0001249
6948	TCN2	Decreased circulating total IgM	HP:0002850
6948	TCN2	Ataxia	HP:0001251
6948	TCN2	Failure to thrive	HP:0001508
6948	TCN2	Lethargy	HP:0001254
6948	TCN2	Autosomal recessive inheritance	HP:0000007
6948	TCN2	Reticulocytopenia	HP:0001896
6948	TCN2	Muscle weakness	HP:0001324
6948	TCN2	Thrombocytopenia	HP:0001873
6948	TCN2	Neutropenia	HP:0001875
6948	TCN2	Pancytopenia	HP:0001876
6948	TCN2	Abnormality of chromosome stability	HP:0003220
6948	TCN2	Macrocytic anemia	HP:0001972
6948	TCN2	Methylmalonic aciduria	HP:0012120
6948	TCN2	Abnormality of the mouth	HP:0000153
6948	TCN2	Decreased circulating IgG level	HP:0004315
6948	TCN2	Megaloblastic bone marrow	HP:0001980
6948	TCN2	Vomiting	HP:0002013
6948	TCN2	Diarrhea	HP:0002014
6948	TCN2	Acute kidney injury	HP:0001919
6949	TCOF1	Preauricular skin tag	HP:0000384
6949	TCOF1	Blepharospasm	HP:0000643
6949	TCOF1	Cataract	HP:0000518
6949	TCOF1	Autosomal dominant inheritance	HP:0000006
6949	TCOF1	Hypoplasia of the thymus	HP:0000778
6949	TCOF1	Lower eyelid coloboma	HP:0000652
6949	TCOF1	Tracheoesophageal fistula	HP:0002575
6949	TCOF1	Rectovaginal fistula	HP:0000143
6949	TCOF1	Malar flattening	HP:0000272
6949	TCOF1	Conductive hearing impairment	HP:0000405
6949	TCOF1	Retrognathia	HP:0000278
6949	TCOF1	Midface retrusion	HP:0011800
6949	TCOF1	Wide mouth	HP:0000154
6949	TCOF1	Cryptorchidism	HP:0000028
6949	TCOF1	Abnormality of the vertebral column	HP:0000925
6949	TCOF1	Atresia of the external auditory canal	HP:0000413
6949	TCOF1	Narrow mouth	HP:0000160
6949	TCOF1	Hypoplasia of penis	HP:0008736
6949	TCOF1	Glossoptosis	HP:0000162
6949	TCOF1	Encephalocele	HP:0002084
6949	TCOF1	Low anterior hairline	HP:0000294
6949	TCOF1	Abnormality of dental enamel	HP:0000682
6949	TCOF1	Hypoplasia of the zygomatic bone	HP:0010669
6949	TCOF1	Respiratory insufficiency	HP:0002093
6949	TCOF1	Scrotal hypoplasia	HP:0000046
6949	TCOF1	Wide nasal bridge	HP:0000431
6949	TCOF1	Cleft palate	HP:0000175
6949	TCOF1	Absent eyelashes	HP:0000561
6949	TCOF1	Dysphasia	HP:0002357
6949	TCOF1	Open bite	HP:0010807
6949	TCOF1	Microphthalmia	HP:0000568
6949	TCOF1	Cleft soft palate	HP:0000185
6949	TCOF1	Hypertelorism	HP:0000316
6949	TCOF1	Visual loss	HP:0000572
6949	TCOF1	Abnormality of the adrenal glands	HP:0000834
6949	TCOF1	Branchial fistula	HP:0009795
6949	TCOF1	Choanal atresia	HP:0000453
6949	TCOF1	Multiple enchondromatosis	HP:0005701
6949	TCOF1	Abnormal parotid gland morphology	HP:0000197
6949	TCOF1	Hypoplasia of the maxilla	HP:0000327
6949	TCOF1	Reduced number of teeth	HP:0009804
6949	TCOF1	Cleft upper lip	HP:0000204
6949	TCOF1	Bilateral microphthalmos	HP:0007633
6949	TCOF1	Abnormality of dental morphology	HP:0006482
6949	TCOF1	Projection of scalp hair onto lateral cheek	HP:0009554
6949	TCOF1	Short face	HP:0011219
6949	TCOF1	Hypoplasia of the pharynx	HP:0009555
6949	TCOF1	Facial cleft	HP:0002006
6949	TCOF1	Frontal bossing	HP:0002007
6949	TCOF1	High palate	HP:0000218
6949	TCOF1	Micrognathia	HP:0000347
6949	TCOF1	Abnormal heart morphology	HP:0001627
6949	TCOF1	Skeletal dysplasia	HP:0002652
6949	TCOF1	Sparse lower eyelashes	HP:0007776
6949	TCOF1	Intellectual disability	HP:0001249
6949	TCOF1	Failure to thrive	HP:0001508
6949	TCOF1	Iris coloboma	HP:0000612
6949	TCOF1	Thyroid hypoplasia	HP:0005990
6949	TCOF1	Strabismus	HP:0000486
6949	TCOF1	Microtia	HP:0008551
6949	TCOF1	Patent ductus arteriosus	HP:0001643
6949	TCOF1	Downslanted palpebral fissures	HP:0000494
6949	TCOF1	Global developmental delay	HP:0001263
6949	TCOF1	Eyelid coloboma	HP:0000625
6949	TCOF1	Brachycephaly	HP:0000248
6949	TCOF1	Visual impairment	HP:0000505
6949	TCOF1	Narrow internal auditory canal	HP:0011386
6949	TCOF1	Abnormality of bone mineral density	HP:0004348
6949	TCOF1	Ptosis	HP:0000508
6949	TCOF1	Upper eyelid coloboma	HP:0000636
6949	TCOF1	Lacrimal duct stenosis	HP:0007678
23334	SZT2	Feeding difficulties	HP:0011968
23334	SZT2	Epileptic encephalopathy	HP:0200134
23334	SZT2	Autosomal recessive inheritance	HP:0000007
23334	SZT2	Optic atrophy	HP:0000648
23334	SZT2	Developmental regression	HP:0002376
23334	SZT2	Absence seizure	HP:0002121
23334	SZT2	Generalized hypotonia	HP:0001290
23334	SZT2	Cerebral atrophy	HP:0002059
23334	SZT2	Limb hypertonia	HP:0002509
23334	SZT2	Autism	HP:0000717
23334	SZT2	Unsteady gait	HP:0002317
23334	SZT2	Rigidity	HP:0002063
23334	SZT2	Encephalopathy	HP:0001298
23334	SZT2	Status epilepticus	HP:0002133
23334	SZT2	Decreased fetal movement	HP:0001558
23334	SZT2	Hypsarrhythmia	HP:0002521
23334	SZT2	High forehead	HP:0000348
23334	SZT2	EEG with multifocal slow activity	HP:0010844
23334	SZT2	Hypodontia	HP:0000668
23334	SZT2	Abnormal myelination	HP:0012447
23334	SZT2	Intellectual disability	HP:0001249
23334	SZT2	Short stature	HP:0004322
23334	SZT2	Retinal degeneration	HP:0000546
23334	SZT2	Thick corpus callosum	HP:0007074
23334	SZT2	Ataxia	HP:0001251
23334	SZT2	Gastroesophageal reflux	HP:0002020
23334	SZT2	Failure to thrive	HP:0001508
23334	SZT2	Impulsivity	HP:0100710
23334	SZT2	Spasticity	HP:0001257
23334	SZT2	Attention deficit hyperactivity disorder	HP:0007018
23334	SZT2	Downslanted palpebral fissures	HP:0000494
23334	SZT2	Delayed speech and language development	HP:0000750
23334	SZT2	Global developmental delay	HP:0001263
23334	SZT2	Hyporeflexia	HP:0001265
23334	SZT2	EEG abnormality	HP:0002353
23334	SZT2	Difficulty walking	HP:0002355
23334	SZT2	Mental deterioration	HP:0001268
23334	SZT2	Poor head control	HP:0002421
23334	SZT2	Dyskinesia	HP:0100660
23334	SZT2	Myoclonus	HP:0001336
23334	SZT2	Abnormality of vision	HP:0000504
23334	SZT2	Tremor	HP:0001337
23334	SZT2	Abnormal corpus callosum morphology	HP:0001273
23334	SZT2	Highly arched eyebrow	HP:0002553
23334	SZT2	Microcephaly	HP:0000252
23334	SZT2	Ptosis	HP:0000508
23334	SZT2	Nystagmus	HP:0000639
23334	SZT2	Focal-onset seizure	HP:0007359
113457	TUBA3D	Reduced visual acuity	HP:0007663
23345	SYNE1	Ichthyosis	HP:0008064
23345	SYNE1	Limb-girdle muscular dystrophy	HP:0006785
23345	SYNE1	EMG: myopathic abnormalities	HP:0003458
23345	SYNE1	Autosomal dominant inheritance	HP:0000006
23345	SYNE1	Autosomal recessive inheritance	HP:0000007
23345	SYNE1	Atrioventricular block	HP:0001678
23345	SYNE1	Sprengel anomaly	HP:0000912
23345	SYNE1	Gait ataxia	HP:0002066
23345	SYNE1	Toe walking	HP:0040083
23345	SYNE1	Limb ataxia	HP:0002070
23345	SYNE1	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0004631
23345	SYNE1	Ventricular septal hypertrophy	HP:0005144
23345	SYNE1	Dysmetria	HP:0001310
23345	SYNE1	Type 1 muscle fiber atrophy	HP:0011807
23345	SYNE1	Proximal muscle weakness in lower limbs	HP:0008994
23345	SYNE1	Reduced tendon reflexes	HP:0001315
23345	SYNE1	Ventricular escape rhythm	HP:0005155
23345	SYNE1	Elevated serum creatine kinase	HP:0003236
23345	SYNE1	Lipodystrophy	HP:0009125
23345	SYNE1	Absent muscle fiber emerin	HP:0030117
23345	SYNE1	Proximal muscle weakness in upper limbs	HP:0008997
23345	SYNE1	Elbow flexion contracture	HP:0002987
23345	SYNE1	Myotonia	HP:0002486
23345	SYNE1	Respiratory insufficiency due to muscle weakness	HP:0002747
23345	SYNE1	Increased LDL cholesterol concentration	HP:0003141
23345	SYNE1	Vocal cord paralysis	HP:0001605
23345	SYNE1	Childhood onset	HP:0011463
23345	SYNE1	Waddling gait	HP:0002515
23345	SYNE1	Neck muscle weakness	HP:0000467
23345	SYNE1	Proximal amyotrophy	HP:0007126
23345	SYNE1	Back pain	HP:0003418
23345	SYNE1	Scoliosis	HP:0002650
23345	SYNE1	Slow progression	HP:0003677
23345	SYNE1	Rimmed vacuoles	HP:0003805
23345	SYNE1	Ataxia	HP:0001251
23345	SYNE1	Muscular hypotonia	HP:0001252
23345	SYNE1	Hypertrophic cardiomyopathy	HP:0001639
23345	SYNE1	Muscular dystrophy	HP:0003560
23345	SYNE1	Obesity	HP:0001513
23345	SYNE1	Spinal rigidity	HP:0003306
23345	SYNE1	Hypertriglyceridemia	HP:0002155
23345	SYNE1	Scapular winging	HP:0003691
23345	SYNE1	Hyperlordosis	HP:0003307
23345	SYNE1	Achilles tendon contracture	HP:0001771
23345	SYNE1	Joint stiffness	HP:0001387
23345	SYNE1	Dysarthria	HP:0001260
23345	SYNE1	Dilated cardiomyopathy	HP:0001644
23345	SYNE1	Sudden cardiac death	HP:0001645
23345	SYNE1	Proximal upper limb amyotrophy	HP:0008948
23345	SYNE1	Proximal muscle weakness	HP:0003701
23345	SYNE1	Cerebellar atrophy	HP:0001272
23345	SYNE1	Kyphosis	HP:0002808
23345	SYNE1	Supraventricular arrhythmia	HP:0005115
23345	SYNE1	Proximal lower limb amyotrophy	HP:0008956
23345	SYNE1	Ptosis	HP:0000508
23345	SYNE1	Adult onset	HP:0003581
23345	SYNE1	Nystagmus	HP:0000639
23345	SYNE1	Pectus excavatum	HP:0000767
146227	BEAN1	Late onset	HP:0003584
146227	BEAN1	Ataxia	HP:0001251
146227	BEAN1	Autosomal dominant inheritance	HP:0000006
146227	BEAN1	Spasticity	HP:0001257
146227	BEAN1	Gaze-evoked horizontal nystagmus	HP:0007979
146227	BEAN1	Dysarthria	HP:0001260
146227	BEAN1	Hearing impairment	HP:0000365
146227	BEAN1	Hyporeflexia	HP:0001265
146227	BEAN1	Hyperactive deep tendon reflexes	HP:0006801
146227	BEAN1	Gait ataxia	HP:0002066
146227	BEAN1	Limb ataxia	HP:0002070
146227	BEAN1	Sensorineural hearing impairment	HP:0000407
146227	BEAN1	Cerebellar atrophy	HP:0001272
146227	BEAN1	Tremor	HP:0001337
146227	BEAN1	Nystagmus	HP:0000639
146227	BEAN1	Impaired vibratory sensation	HP:0002495
23347	SMCHD1	EMG abnormality	HP:0003457
23347	SMCHD1	Skeletal muscle atrophy	HP:0003202
23347	SMCHD1	Gynecomastia	HP:0000771
23347	SMCHD1	Facial palsy	HP:0010628
23347	SMCHD1	Cataract	HP:0000518
23347	SMCHD1	Autosomal dominant inheritance	HP:0000006
23347	SMCHD1	Amblyopia	HP:0000646
23347	SMCHD1	Hypoplasia of the olfactory bulb	HP:0040326
23347	SMCHD1	Hypogonadism	HP:0000135
23347	SMCHD1	Scapulohumeral muscular dystrophy	HP:0008970
23347	SMCHD1	Anophthalmia	HP:0000528
23347	SMCHD1	Primary amenorrhea	HP:0000786
23347	SMCHD1	Corneal opacity	HP:0007957
23347	SMCHD1	Inguinal hernia	HP:0000023
23347	SMCHD1	Sensorineural hearing impairment	HP:0000407
23347	SMCHD1	Midface retrusion	HP:0011800
23347	SMCHD1	Synophrys	HP:0000664
23347	SMCHD1	Cryptorchidism	HP:0000028
23347	SMCHD1	Hypoplasia of penis	HP:0008736
23347	SMCHD1	Elevated serum creatine kinase	HP:0003236
23347	SMCHD1	Pelvic girdle muscle weakness	HP:0003749
23347	SMCHD1	Cleft lip	HP:0410030
23347	SMCHD1	Mask-like facies	HP:0000298
23347	SMCHD1	Hypoplasia of teeth	HP:0000685
23347	SMCHD1	Cleft palate	HP:0000175
23347	SMCHD1	Hypospadias	HP:0000047
23347	SMCHD1	Submucous cleft hard palate	HP:0000176
23347	SMCHD1	Dental malocclusion	HP:0000689
23347	SMCHD1	Misalignment of teeth	HP:0000692
23347	SMCHD1	Abnormality of the midface	HP:0000309
23347	SMCHD1	Micropenis	HP:0000054
23347	SMCHD1	Microphthalmia	HP:0000568
23347	SMCHD1	Hyposmia	HP:0004409
23347	SMCHD1	Hypoplastic labia majora	HP:0000059
23347	SMCHD1	Hypertelorism	HP:0000316
23347	SMCHD1	Visual loss	HP:0000572
23347	SMCHD1	Palpebral edema	HP:0100540
23347	SMCHD1	Abdominal wall muscle weakness	HP:0009023
23347	SMCHD1	Bifid uvula	HP:0000193
23347	SMCHD1	Foot dorsiflexor weakness	HP:0009027
23347	SMCHD1	Choanal atresia	HP:0000453
23347	SMCHD1	Aplasia of the nose	HP:0009927
23347	SMCHD1	Beevor's sign	HP:0030664
23347	SMCHD1	Anosmia	HP:0000458
23347	SMCHD1	Single naris	HP:0009932
23347	SMCHD1	Coloboma	HP:0000589
23347	SMCHD1	Agenesis of permanent teeth	HP:0006349
23347	SMCHD1	Failure of eruption of permanent teeth	HP:0006352
23347	SMCHD1	Abnormality of cardiovascular system morphology	HP:0030680
23347	SMCHD1	High palate	HP:0000218
23347	SMCHD1	Iris coloboma	HP:0000612
23347	SMCHD1	Digenic inheritance	HP:0010984
23347	SMCHD1	Blindness	HP:0000618
23347	SMCHD1	Hyperlordosis	HP:0003307
23347	SMCHD1	Scapular winging	HP:0003691
23347	SMCHD1	Hearing impairment	HP:0000365
23347	SMCHD1	Abnormal retinal vascular morphology	HP:0008046
23347	SMCHD1	Abnormal eyelash morphology	HP:0000499
23347	SMCHD1	Absent nares	HP:0100596
23347	SMCHD1	Adult onset	HP:0003581
285489	DOK7	Akinesia	HP:0002304
285489	DOK7	Bulbar palsy	HP:0001283
285489	DOK7	Autosomal recessive inheritance	HP:0000007
285489	DOK7	Proptosis	HP:0000520
285489	DOK7	Multiple joint contractures	HP:0002828
285489	DOK7	Ulnar deviation of the hand	HP:0009487
285489	DOK7	Decreased fetal movement	HP:0001558
285489	DOK7	Dandy-Walker malformation	HP:0001305
285489	DOK7	Polyhydramnios	HP:0001561
285489	DOK7	Drowsiness	HP:0002329
285489	DOK7	Thoracic kyphoscoliosis	HP:0005659
285489	DOK7	Cryptorchidism	HP:0000028
285489	DOK7	Slender long bone	HP:0003100
285489	DOK7	Pterygium	HP:0001059
285489	DOK7	Reduced tendon reflexes	HP:0001315
285489	DOK7	Juvenile onset	HP:0003621
285489	DOK7	Pulmonary hypoplasia	HP:0002089
285489	DOK7	Cerebellar hypoplasia	HP:0001321
285489	DOK7	Restrictive ventilatory defect	HP:0002091
285489	DOK7	Respiratory insufficiency	HP:0002093
285489	DOK7	Weakness of the intrinsic hand muscles	HP:0009005
285489	DOK7	Rocker bottom foot	HP:0001838
285489	DOK7	Absent septum pellucidum	HP:0001331
285489	DOK7	Exertional dyspnea	HP:0002875
285489	DOK7	Easy fatigability	HP:0003388
285489	DOK7	Hypertelorism	HP:0000316
285489	DOK7	Respiratory failure	HP:0002878
285489	DOK7	Gowers sign	HP:0003391
285489	DOK7	Muscle spasm	HP:0003394
285489	DOK7	Blepharophimosis	HP:0000581
285489	DOK7	Hypokinesia	HP:0002375
285489	DOK7	Decreased miniature endplate potentials	HP:0003402
285489	DOK7	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
285489	DOK7	Abnormality of pelvic girdle bone morphology	HP:0002644
285489	DOK7	Ophthalmoparesis	HP:0000597
285489	DOK7	Cavum septum pellucidum	HP:0002389
285489	DOK7	Premature birth	HP:0001622
285489	DOK7	Long philtrum	HP:0000343
285489	DOK7	Scoliosis	HP:0002650
285489	DOK7	Micrognathia	HP:0000347
285489	DOK7	Posteriorly rotated ears	HP:0000358
285489	DOK7	Distal amyotrophy	HP:0003693
285489	DOK7	Thin ribs	HP:0000883
285489	DOK7	Decreased size of nerve terminals	HP:0003443
285489	DOK7	Generalized amyotrophy	HP:0003700
285489	DOK7	Weakness of long finger extensor muscles	HP:0009077
285489	DOK7	Small placenta	HP:0006266
285489	DOK7	Intestinal hypoplasia	HP:0005245
285489	DOK7	Skeletal muscle atrophy	HP:0003202
285489	DOK7	EMG: myopathic abnormalities	HP:0003458
285489	DOK7	Facial palsy	HP:0010628
285489	DOK7	Triceps weakness	HP:0031108
285489	DOK7	Thoracic hypoplasia	HP:0005257
285489	DOK7	Neck flexor weakness	HP:0003722
285489	DOK7	Camptodactyly of finger	HP:0100490
285489	DOK7	Diplopia	HP:0000651
285489	DOK7	Ankle weakness	HP:0031374
285489	DOK7	Fatigable weakness	HP:0003473
285489	DOK7	High, narrow palate	HP:0002705
285489	DOK7	Delayed gross motor development	HP:0002194
285489	DOK7	Abnormality of the immune system	HP:0002715
285489	DOK7	Abnormality of masticatory muscle	HP:0410011
285489	DOK7	Abnormality of abdomen morphology	HP:0001438
285489	DOK7	Depressed nasal bridge	HP:0005280
285489	DOK7	Narrow mouth	HP:0000160
285489	DOK7	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
285489	DOK7	Short umbilical cord	HP:0001196
285489	DOK7	Cleft palate	HP:0000175
285489	DOK7	Depressed nasal tip	HP:0000437
285489	DOK7	Respiratory insufficiency due to muscle weakness	HP:0002747
285489	DOK7	Cyanosis	HP:0000961
285489	DOK7	Fetal akinesia sequence	HP:0001989
285489	DOK7	Short palpebral fissure	HP:0012745
285489	DOK7	Waddling gait	HP:0002515
285489	DOK7	Proximal amyotrophy	HP:0007126
285489	DOK7	Short neck	HP:0000470
285489	DOK7	High palate	HP:0000218
285489	DOK7	Type 1 muscle fiber predominance	HP:0003803
285489	DOK7	Shoulder girdle muscle weakness	HP:0003547
285489	DOK7	Cystic hygroma	HP:0000476
285489	DOK7	Orthopnea	HP:0012764
285489	DOK7	Talipes equinovarus	HP:0001762
285489	DOK7	Hip flexor weakness	HP:0012515
285489	DOK7	Intrauterine growth retardation	HP:0001511
285489	DOK7	Reduced vital capacity	HP:0002792
285489	DOK7	Excessive daytime somnolence	HP:0001262
285489	DOK7	Hydrocephalus	HP:0000238
285489	DOK7	Small for gestational age	HP:0001518
285489	DOK7	Stillbirth	HP:0003826
285489	DOK7	Mildly elevated creatine kinase	HP:0008180
285489	DOK7	Arthrogryposis multiplex congenita	HP:0002804
285489	DOK7	Fatigable weakness of respiratory muscles	HP:0030196
285489	DOK7	Fatigable weakness of neck muscles	HP:0030199
285489	DOK7	Absent palmar crease	HP:0010489
285489	DOK7	Telecanthus	HP:0000506
285489	DOK7	Ptosis	HP:0000508
285489	DOK7	Elbow ankylosis	HP:0003070
727857	BHLHA9	Small nail	HP:0001792
727857	BHLHA9	Aplasia/Hypoplasia of the thumb	HP:0009601
727857	BHLHA9	Omphalocele	HP:0001539
727857	BHLHA9	Brachydactyly	HP:0001156
727857	BHLHA9	Autosomal recessive inheritance	HP:0000007
727857	BHLHA9	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	HP:0009161
727857	BHLHA9	Polydactyly	HP:0010442
727857	BHLHA9	Postaxial hand polydactyly	HP:0001162
727857	BHLHA9	Aplasia/Hypoplasia of the tibia	HP:0005772
727857	BHLHA9	Overfolded helix	HP:0000396
727857	BHLHA9	Symphalangism affecting the phalanges of the hallux	HP:0010064
727857	BHLHA9	3-4 finger syndactyly	HP:0006097
727857	BHLHA9	2-3 toe syndactyly	HP:0004691
727857	BHLHA9	Split hand	HP:0001171
727857	BHLHA9	Finger syndactyly	HP:0006101
727857	BHLHA9	Preaxial hand polydactyly	HP:0001177
727857	BHLHA9	Short femur	HP:0003097
727857	BHLHA9	Proximal/middle symphalangism of 5th finger	HP:0009177
727857	BHLHA9	Popliteal pterygium	HP:0009756
727857	BHLHA9	Fibular hypoplasia	HP:0003038
727857	BHLHA9	Aplasia/Hypoplasia of the ulna	HP:0006495
727857	BHLHA9	Limitation of joint mobility	HP:0001376
727857	BHLHA9	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	HP:0009568
727857	BHLHA9	Camptodactyly	HP:0012385
727857	BHLHA9	Femoral bowing	HP:0002980
727857	BHLHA9	Metacarpal synostosis	HP:0009701
727857	BHLHA9	Aplasia/Hypoplasia of the hallux	HP:0008362
727857	BHLHA9	Patellar aplasia	HP:0006443
727857	BHLHA9	Symphalangism affecting the phalanges of the hand	HP:0009773
727857	BHLHA9	Clinodactyly of the 5th finger	HP:0004209
727857	BHLHA9	Short thumb	HP:0009778
727857	BHLHA9	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0009843
727857	BHLHA9	Cutaneous syndactyly	HP:0012725
727857	BHLHA9	Short palm	HP:0004279
727857	BHLHA9	Synostosis of carpal bones	HP:0005048
727857	BHLHA9	Single transverse palmar crease	HP:0000954
727857	BHLHA9	Toenail dysplasia	HP:0100797
727857	BHLHA9	Short hallux	HP:0010109
375611	SLC26A5	Autosomal recessive inheritance	HP:0000007
375611	SLC26A5	Sensorineural hearing impairment	HP:0000407
138050	HGSNAT	Abnormal electroretinogram	HP:0000512
138050	HGSNAT	Thickened ribs	HP:0000900
138050	HGSNAT	Cataract	HP:0000518
138050	HGSNAT	Asymmetric septal hypertrophy	HP:0001670
138050	HGSNAT	Hypogonadism	HP:0000135
138050	HGSNAT	Autosomal recessive inheritance	HP:0000007
138050	HGSNAT	Optic atrophy	HP:0000648
138050	HGSNAT	Dolichocephaly	HP:0000268
138050	HGSNAT	Conductive hearing impairment	HP:0000405
138050	HGSNAT	Nyctalopia	HP:0000662
138050	HGSNAT	Sensorineural hearing impairment	HP:0000407
138050	HGSNAT	Abnormality of retinal pigmentation	HP:0007703
138050	HGSNAT	Coarse facial features	HP:0000280
138050	HGSNAT	Synophrys	HP:0000664
138050	HGSNAT	Motor deterioration	HP:0002333
138050	HGSNAT	Hypoplasia of penis	HP:0008736
138050	HGSNAT	Coarse hair	HP:0002208
138050	HGSNAT	Abnormal testis morphology	HP:0000035
138050	HGSNAT	Wide nasal bridge	HP:0000431
138050	HGSNAT	Dysostosis multiplex	HP:0000943
138050	HGSNAT	Keratoconus	HP:0000563
138050	HGSNAT	Hernia	HP:0100790
138050	HGSNAT	Sleep disturbance	HP:0002360
138050	HGSNAT	Kyphoscoliosis	HP:0002751
138050	HGSNAT	Hepatomegaly	HP:0002240
138050	HGSNAT	Hyperreflexia	HP:0001347
138050	HGSNAT	Loss of speech	HP:0002371
138050	HGSNAT	Cellular metachromasia	HP:0003653
138050	HGSNAT	Hyperinsulinemia	HP:0000842
138050	HGSNAT	Anteverted nares	HP:0000463
138050	HGSNAT	Splenomegaly	HP:0001744
138050	HGSNAT	Retinal atrophy	HP:0001105
138050	HGSNAT	Pallor	HP:0000980
138050	HGSNAT	Ophthalmoplegia	HP:0000602
138050	HGSNAT	Type II diabetes mellitus	HP:0005978
138050	HGSNAT	Atypical scarring of skin	HP:0000987
138050	HGSNAT	Diarrhea	HP:0002014
138050	HGSNAT	Dysphagia	HP:0002015
138050	HGSNAT	Intellectual disability	HP:0001249
138050	HGSNAT	Seizures	HP:0001250
138050	HGSNAT	Growth abnormality	HP:0001507
138050	HGSNAT	Recurrent upper respiratory tract infections	HP:0002788
138050	HGSNAT	Photophobia	HP:0000613
138050	HGSNAT	Everted lower lip vermilion	HP:0000232
138050	HGSNAT	Obesity	HP:0001513
138050	HGSNAT	Blindness	HP:0000618
138050	HGSNAT	Joint stiffness	HP:0001387
138050	HGSNAT	Ovoid thoracolumbar vertebrae	HP:0003309
138050	HGSNAT	Hearing impairment	HP:0000365
138050	HGSNAT	Constriction of peripheral visual field	HP:0001133
138050	HGSNAT	Abnormal retinal vascular morphology	HP:0008046
138050	HGSNAT	Heparan sulfate excretion in urine	HP:0002159
138050	HGSNAT	Hirsutism	HP:0001007
138050	HGSNAT	Hyperactivity	HP:0000752
138050	HGSNAT	Variable expressivity	HP:0003828
138050	HGSNAT	Glaucoma	HP:0000501
138050	HGSNAT	Motor delay	HP:0001270
138050	HGSNAT	Dense calvaria	HP:0000250
138050	HGSNAT	Progressive night blindness	HP:0007675
138050	HGSNAT	Rod-cone dystrophy	HP:0000510
138050	HGSNAT	Nystagmus	HP:0000639
80705	TSGA10	Infertility	HP:0000789
80705	TSGA10	Acephalic spermatozoa	HP:0012869
80704	SLC19A3	Autosomal recessive inheritance	HP:0000007
80704	SLC19A3	Optic atrophy	HP:0000648
80704	SLC19A3	Confusion	HP:0001289
80704	SLC19A3	Psychomotor retardation	HP:0025356
80704	SLC19A3	Decreased activity of mitochondrial respiratory chain	HP:0008972
80704	SLC19A3	Morphological abnormality of the pyramidal tract	HP:0002062
80704	SLC19A3	Rigidity	HP:0002063
80704	SLC19A3	Focal T2 hyperintense basal ganglia lesion	HP:0007183
80704	SLC19A3	Encephalopathy	HP:0001298
80704	SLC19A3	Gait ataxia	HP:0002066
80704	SLC19A3	Craniofacial dystonia	HP:0012179
80704	SLC19A3	Fever	HP:0001945
80704	SLC19A3	Progressive cerebellar ataxia	HP:0002073
80704	SLC19A3	Babinski sign	HP:0003487
80704	SLC19A3	External ophthalmoplegia	HP:0000544
80704	SLC19A3	Juvenile onset	HP:0003621
80704	SLC19A3	Dystonia	HP:0001332
80704	SLC19A3	Apnea	HP:0002104
80704	SLC19A3	Increased CSF lactate	HP:0002490
80704	SLC19A3	Hyperreflexia	HP:0001347
80704	SLC19A3	Pigmentary retinopathy	HP:0000580
80704	SLC19A3	Emotional lability	HP:0000712
80704	SLC19A3	Paraparesis	HP:0002385
80704	SLC19A3	Abnormality of the basal ganglia	HP:0002134
80704	SLC19A3	Ophthalmoplegia	HP:0000602
80704	SLC19A3	Ventricular septal defect	HP:0001629
80704	SLC19A3	Dysphagia	HP:0002015
80704	SLC19A3	Irritability	HP:0000737
80704	SLC19A3	Seizures	HP:0001250
80704	SLC19A3	Failure to thrive	HP:0001508
80704	SLC19A3	Muscular hypotonia	HP:0001252
80704	SLC19A3	Strabismus	HP:0000486
80704	SLC19A3	Hypertrichosis	HP:0000998
80704	SLC19A3	Peripheral neuropathy	HP:0009830
80704	SLC19A3	Increased serum lactate	HP:0002151
80704	SLC19A3	Hypertrophic cardiomyopathy	HP:0001639
80704	SLC19A3	Muscular hypotonia of the trunk	HP:0008936
80704	SLC19A3	Coma	HP:0001259
80704	SLC19A3	Dysarthria	HP:0001260
80704	SLC19A3	Inability to walk	HP:0002540
80704	SLC19A3	Progressive spastic paraplegia	HP:0007020
80704	SLC19A3	Hearing impairment	HP:0000365
80704	SLC19A3	Global developmental delay	HP:0001263
80704	SLC19A3	Anemia	HP:0001903
80704	SLC19A3	Leukodystrophy	HP:0002415
80704	SLC19A3	Intellectual disability, severe	HP:0010864
80704	SLC19A3	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
80704	SLC19A3	Hypertonia	HP:0001276
80704	SLC19A3	Mutism	HP:0002300
80704	SLC19A3	Ptosis	HP:0000508
80704	SLC19A3	Nystagmus	HP:0000639
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
23363	OBSL1	Relative macrocephaly	HP:0004482
23363	OBSL1	Hypoplastic pelvis	HP:0008839
23363	OBSL1	Autosomal recessive inheritance	HP:0000007
23363	OBSL1	Dolichocephaly	HP:0000268
23363	OBSL1	Prominent calcaneus	HP:0012428
23363	OBSL1	Decreased fertility	HP:0000144
23363	OBSL1	Enlarged thorax	HP:0100625
23363	OBSL1	Malar flattening	HP:0000272
23363	OBSL1	Short 5th finger	HP:0009237
23363	OBSL1	Midface retrusion	HP:0011800
23363	OBSL1	Prominent nasal tip	HP:0005274
23363	OBSL1	Protruding ear	HP:0000411
23363	OBSL1	Slender long bone	HP:0003100
23363	OBSL1	Bulbous nose	HP:0000414
23363	OBSL1	Depressed nasal bridge	HP:0005280
23363	OBSL1	Micromelia	HP:0002983
23363	OBSL1	Abnormality of dental enamel	HP:0000682
23363	OBSL1	Delayed eruption of teeth	HP:0000684
23363	OBSL1	Rocker bottom foot	HP:0001838
23363	OBSL1	Hypospadias	HP:0000047
23363	OBSL1	Abnormality of the metaphysis	HP:0000944
23363	OBSL1	Dental malocclusion	HP:0000689
23363	OBSL1	Abnormality of the cerebral vasculature	HP:0100659
23363	OBSL1	Pointed chin	HP:0000307
23363	OBSL1	Thick vermilion border	HP:0012471
23363	OBSL1	Joint hyperflexibility	HP:0005692
23363	OBSL1	Thick eyebrow	HP:0000574
23363	OBSL1	Delayed skeletal maturation	HP:0002750
23363	OBSL1	Short thorax	HP:0010306
23363	OBSL1	Triangular face	HP:0000325
23363	OBSL1	Hypoplasia of the ulna	HP:0003022
23363	OBSL1	Anteverted nares	HP:0000463
23363	OBSL1	Broad forehead	HP:0000337
23363	OBSL1	Abnormality of the elbow	HP:0009811
23363	OBSL1	Short neck	HP:0000470
23363	OBSL1	Frontal bossing	HP:0002007
23363	OBSL1	Long philtrum	HP:0000343
23363	OBSL1	Scoliosis	HP:0002650
23363	OBSL1	Increased vertebral height	HP:0004570
23363	OBSL1	High palate	HP:0000218
23363	OBSL1	Congenital hip dislocation	HP:0001374
23363	OBSL1	Short stature	HP:0004322
23363	OBSL1	Hypoplastic pubic bone	HP:0003173
23363	OBSL1	Hypoplastic ischia	HP:0003175
23363	OBSL1	Intrauterine growth retardation	HP:0001511
23363	OBSL1	Everted lower lip vermilion	HP:0000232
23363	OBSL1	Hyperlordosis	HP:0003307
23363	OBSL1	Scapular winging	HP:0003691
23363	OBSL1	Clinodactyly of the 5th finger	HP:0004209
23363	OBSL1	Thin ribs	HP:0000883
23363	OBSL1	Kyphosis	HP:0002808
23363	OBSL1	Horizontal ribs	HP:0000888
23363	OBSL1	Abnormality of the sternum	HP:0000766
64324	NSD1	Macrocephaly	HP:0000256
64324	NSD1	Small nail	HP:0001792
64324	NSD1	Autosomal dominant inheritance	HP:0000006
64324	NSD1	Hypoplastic toenails	HP:0001800
64324	NSD1	Dolichocephaly	HP:0000268
64324	NSD1	Sacrococcygeal teratoma	HP:0030736
64324	NSD1	Deep-set nails	HP:0001814
64324	NSD1	Retrognathia	HP:0000278
64324	NSD1	Neoplasm of the nervous system	HP:0004375
64324	NSD1	Inguinal hernia	HP:0000023
64324	NSD1	Coarse facial features	HP:0000280
64324	NSD1	Thin nail	HP:0001816
64324	NSD1	Cryptorchidism	HP:0000028
64324	NSD1	Hypermetropia	HP:0000540
64324	NSD1	Hypoplasia of penis	HP:0008736
64324	NSD1	Myopia	HP:0000545
64324	NSD1	Neonatal hypotonia	HP:0001319
64324	NSD1	Broad thumb	HP:0011304
64324	NSD1	Genu valgum	HP:0002857
64324	NSD1	Long foot	HP:0001833
64324	NSD1	Redundant skin	HP:0001582
64324	NSD1	Mandibular prognathia	HP:0000303
64324	NSD1	Hypospadias	HP:0000047
64324	NSD1	Specific learning disability	HP:0001328
64324	NSD1	EEG abnormality	HP:0002353
64324	NSD1	Pointed chin	HP:0000307
64324	NSD1	Round face	HP:0000311
64324	NSD1	Precocious puberty	HP:0000826
64324	NSD1	Partial agenesis of the corpus callosum	HP:0001338
64324	NSD1	Hypertelorism	HP:0000316
64324	NSD1	Joint hyperflexibility	HP:0005692
64324	NSD1	Abnormally low-pitched voice	HP:0010300
64324	NSD1	Sandal gap	HP:0001852
64324	NSD1	Poor coordination	HP:0002370
64324	NSD1	Hyperreflexia	HP:0001347
64324	NSD1	Ventriculomegaly	HP:0002119
64324	NSD1	Hoarse voice	HP:0001609
64324	NSD1	Renal duplication	HP:0000075
64324	NSD1	Vesicoureteral reflux	HP:0000076
64324	NSD1	Broad forehead	HP:0000337
64324	NSD1	Craniosynostosis	HP:0001363
64324	NSD1	Cavum septum pellucidum	HP:0002389
64324	NSD1	Long philtrum	HP:0000343
64324	NSD1	Scoliosis	HP:0002650
64324	NSD1	Micrognathia	HP:0000347
64324	NSD1	High forehead	HP:0000348
64324	NSD1	Ventricular septal defect	HP:0001629
64324	NSD1	Congenital hip dislocation	HP:0001374
64324	NSD1	Atrial septal defect	HP:0001631
64324	NSD1	Tall stature	HP:0000098
64324	NSD1	Patent ductus arteriosus	HP:0001643
64324	NSD1	Nephroblastoma	HP:0002667
64324	NSD1	Joint stiffness	HP:0001387
64324	NSD1	Joint laxity	HP:0001388
64324	NSD1	Low-set, posteriorly rotated ears	HP:0000368
64324	NSD1	Nystagmus	HP:0000639
64324	NSD1	Otitis media	HP:0000388
64324	NSD1	Abnormal cardiac septum morphology	HP:0001671
64324	NSD1	Camptodactyly of finger	HP:0100490
64324	NSD1	Advanced eruption of teeth	HP:0006288
64324	NSD1	Macrotia	HP:0000400
64324	NSD1	High, narrow palate	HP:0002705
64324	NSD1	Somatic mutation	HP:0001428
64324	NSD1	Conductive hearing impairment	HP:0000405
64324	NSD1	Hypoglycemia	HP:0001943
64324	NSD1	Large hands	HP:0001176
64324	NSD1	Genu varum	HP:0002970
64324	NSD1	Glucose intolerance	HP:0001952
64324	NSD1	Sporadic	HP:0003745
64324	NSD1	High anterior hairline	HP:0009890
64324	NSD1	Fine hair	HP:0002213
64324	NSD1	Feeding difficulties in infancy	HP:0008872
64324	NSD1	Expressive language delay	HP:0002474
64324	NSD1	Abnormality of the metaphysis	HP:0000944
64324	NSD1	Multiple renal cysts	HP:0005562
64324	NSD1	Delayed skeletal maturation	HP:0002750
64324	NSD1	Behavioral abnormality	HP:0000708
64324	NSD1	Acute myeloid leukemia	HP:0004808
64324	NSD1	Depressed nasal ridge	HP:0000457
64324	NSD1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
64324	NSD1	Anteverted nares	HP:0000463
64324	NSD1	Abnormal fingernail morphology	HP:0001231
64324	NSD1	Deep philtrum	HP:0002002
64324	NSD1	Prominent forehead	HP:0011220
64324	NSD1	Finger syndactyly	HP:0006101
64324	NSD1	Frontal bossing	HP:0002007
64324	NSD1	Abnormality of cardiovascular system morphology	HP:0030680
64324	NSD1	High palate	HP:0000218
64324	NSD1	Intellectual disability	HP:0001249
64324	NSD1	Pes cavus	HP:0001761
64324	NSD1	Seizures	HP:0001250
64324	NSD1	Abnormality of immune system physiology	HP:0010978
64324	NSD1	Talipes equinovarus	HP:0001762
64324	NSD1	Short stature	HP:0004322
64324	NSD1	Pes planus	HP:0001763
64324	NSD1	Muscular hypotonia	HP:0001252
64324	NSD1	Strabismus	HP:0000486
64324	NSD1	Enlarged cisterna magna	HP:0002280
64324	NSD1	Obesity	HP:0001513
64324	NSD1	Spasticity	HP:0001257
64324	NSD1	Broad foot	HP:0001769
64324	NSD1	Downslanted palpebral fissures	HP:0000494
64324	NSD1	Global developmental delay	HP:0001263
64324	NSD1	Accelerated skeletal maturation	HP:0005616
64324	NSD1	Microcephaly	HP:0000252
64327	LMBR1	Absent forearm	HP:0005632
64327	LMBR1	Aplasia/Hypoplasia of the thumb	HP:0009601
64327	LMBR1	Absent radius	HP:0003974
64327	LMBR1	Autosomal dominant inheritance	HP:0000006
64327	LMBR1	Complete duplication of distal phalanx of the thumb	HP:0009606
64327	LMBR1	Fibular duplication	HP:0010503
64327	LMBR1	Syndactyly	HP:0001159
64327	LMBR1	Carpal bone aplasia	HP:0004231
64327	LMBR1	Autosomal recessive inheritance	HP:0000007
64327	LMBR1	Absent toe	HP:0010760
64327	LMBR1	Hand polydactyly	HP:0001161
64327	LMBR1	Postaxial hand polydactyly	HP:0001162
64327	LMBR1	Camptodactyly of finger	HP:0100490
64327	LMBR1	Abnormality of the metacarpal bones	HP:0001163
64327	LMBR1	Aplasia of the tarsal bones	HP:0010509
64327	LMBR1	Aplasia of the ulna	HP:0003982
64327	LMBR1	Abnormality of the face	HP:0000271
64327	LMBR1	Preaxial hand polydactyly	HP:0001177
64327	LMBR1	Downturned corners of mouth	HP:0002714
64327	LMBR1	Cryptorchidism	HP:0000028
64327	LMBR1	Supernumerary metacarpal bones	HP:0005917
64327	LMBR1	Short humerus	HP:0005792
64327	LMBR1	Postaxial polydactyly	HP:0100259
64327	LMBR1	Foot polydactyly	HP:0001829
64327	LMBR1	Postaxial foot polydactyly	HP:0001830
64327	LMBR1	Abnormality of epiphysis morphology	HP:0005930
64327	LMBR1	Patellar aplasia	HP:0006443
64327	LMBR1	Limb duplication	HP:0100524
64327	LMBR1	Underdeveloped nasal alae	HP:0000430
64327	LMBR1	Fibular aplasia	HP:0002990
64327	LMBR1	Triphalangeal thumb	HP:0001199
64327	LMBR1	Tarsal synostosis	HP:0008368
64327	LMBR1	Abnormality of the metaphysis	HP:0000944
64327	LMBR1	Preaxial foot polydactyly	HP:0001841
64327	LMBR1	Depressed nasal tip	HP:0000437
64327	LMBR1	Hypertelorism	HP:0000316
64327	LMBR1	Prominent nose	HP:0000448
64327	LMBR1	Aplasia of metacarpal bones	HP:0010048
64327	LMBR1	Mirror image polydactyly	HP:0010689
64327	LMBR1	1-5 finger complete cutaneous syndactyly	HP:0006088
64327	LMBR1	Depressed nasal ridge	HP:0000457
64327	LMBR1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
64327	LMBR1	Polydactyly	HP:0010442
64327	LMBR1	Aplasia of the phalanges of the hand	HP:0009802
64327	LMBR1	Increased fibular diameter	HP:0012107
64327	LMBR1	Abnormality of the wrist	HP:0003019
64327	LMBR1	Short columella	HP:0002000
64327	LMBR1	Duplication of phalanx of hallux	HP:0010066
64327	LMBR1	Absent hand	HP:0004050
64327	LMBR1	2-3 toe syndactyly	HP:0004691
64327	LMBR1	1-5 finger syndactyly	HP:0010708
64327	LMBR1	Absent tibia	HP:0009556
64327	LMBR1	Finger syndactyly	HP:0006101
64327	LMBR1	Upper limb phocomelia	HP:0009813
64327	LMBR1	Bowing of the long bones	HP:0006487
64327	LMBR1	Talipes	HP:0001883
64327	LMBR1	Abnormal heart morphology	HP:0001627
64327	LMBR1	Lower limb peromelia	HP:0009820
64327	LMBR1	6 metacarpals	HP:0001501
64327	LMBR1	Limitation of joint mobility	HP:0001376
64327	LMBR1	Intellectual disability	HP:0001249
64327	LMBR1	Short stature	HP:0004322
64327	LMBR1	Muscular hypotonia	HP:0001252
64327	LMBR1	Short tibia	HP:0005736
64327	LMBR1	Broad foot	HP:0001769
64327	LMBR1	Toe syndactyly	HP:0001770
64327	LMBR1	Opposable triphalangeal thumb	HP:0005866
64327	LMBR1	Short foot	HP:0001773
64327	LMBR1	Hydrocephalus	HP:0000238
64327	LMBR1	Clinodactyly of the 5th finger	HP:0004209
64327	LMBR1	Absent metatarsal bone	HP:0010744
23370	ARHGEF18	Abnormal electroretinogram	HP:0000512
23370	ARHGEF18	Photopsia	HP:0030786
23370	ARHGEF18	Hyperreflexia	HP:0001347
23370	ARHGEF18	Cataract	HP:0000518
23370	ARHGEF18	Hypogonadism	HP:0000135
23370	ARHGEF18	Autosomal recessive inheritance	HP:0000007
23370	ARHGEF18	Optic atrophy	HP:0000648
23370	ARHGEF18	Hyperinsulinemia	HP:0000842
23370	ARHGEF18	Anteverted nares	HP:0000463
23370	ARHGEF18	Conductive hearing impairment	HP:0000405
23370	ARHGEF18	Nyctalopia	HP:0000662
23370	ARHGEF18	Sensorineural hearing impairment	HP:0000407
23370	ARHGEF18	Abnormality of retinal pigmentation	HP:0007703
23370	ARHGEF18	Ophthalmoplegia	HP:0000602
23370	ARHGEF18	Type II diabetes mellitus	HP:0005978
23370	ARHGEF18	Atypical scarring of skin	HP:0000987
23370	ARHGEF18	Optic disc pallor	HP:0000543
23370	ARHGEF18	Hypoplasia of penis	HP:0008736
23370	ARHGEF18	Intellectual disability	HP:0001249
23370	ARHGEF18	Abnormal testis morphology	HP:0000035
23370	ARHGEF18	Visual field defect	HP:0001123
23370	ARHGEF18	Photophobia	HP:0000613
23370	ARHGEF18	Obesity	HP:0001513
23370	ARHGEF18	Blindness	HP:0000618
23370	ARHGEF18	Abnormal retinal vascular morphology	HP:0008046
23370	ARHGEF18	Wide nasal bridge	HP:0000431
23370	ARHGEF18	Reduced visual acuity	HP:0007663
23370	ARHGEF18	Cystoid macular edema	HP:0011505
23370	ARHGEF18	Keratoconus	HP:0000563
23370	ARHGEF18	Glaucoma	HP:0000501
23370	ARHGEF18	Progressive night blindness	HP:0007675
23370	ARHGEF18	Nystagmus	HP:0000639
727897	MUC5B	Gastroesophageal reflux	HP:0002020
727897	MUC5B	Clubbing of fingers	HP:0100759
727897	MUC5B	Honeycomb lung	HP:0025175
727897	MUC5B	Ground-glass opacification on pulmonary HRCT	HP:0025179
727897	MUC5B	Exertional dyspnea	HP:0002875
727897	MUC5B	Pulmonary insufficiency	HP:0010444
727897	MUC5B	Crackles	HP:0030830
727897	MUC5B	Pulmonary fibrosis	HP:0002206
727897	MUC5B	Bronchiectasis	HP:0002110
727897	MUC5B	Reticular pattern on pulmonary HRCT	HP:0025390
727897	MUC5B	Cough	HP:0012735
6997	TDGF1	Short philtrum	HP:0000322
6997	TDGF1	EMG: myopathic abnormalities	HP:0003458
6997	TDGF1	Hemangioma	HP:0001028
6997	TDGF1	Choanal atresia	HP:0000453
6997	TDGF1	Duodenal atresia	HP:0002247
6997	TDGF1	Maternal diabetes	HP:0009800
6997	TDGF1	Anteverted nares	HP:0000463
6997	TDGF1	Holoprosencephaly	HP:0001360
6997	TDGF1	Midnasal stenosis	HP:0010644
6997	TDGF1	Premature birth	HP:0001622
6997	TDGF1	Hypotelorism	HP:0000601
6997	TDGF1	Scoliosis	HP:0002650
6997	TDGF1	Hypoplasia of penis	HP:0008736
6997	TDGF1	Intellectual disability	HP:0001249
6997	TDGF1	Short stature	HP:0004322
6997	TDGF1	Seizures	HP:0001250
6997	TDGF1	Iris coloboma	HP:0000612
6997	TDGF1	Tetralogy of Fallot	HP:0001636
6997	TDGF1	Strabismus	HP:0000486
6997	TDGF1	Panhypopituitarism	HP:0000871
6997	TDGF1	Intrauterine growth retardation	HP:0001511
6997	TDGF1	Renal agenesis	HP:0000104
6997	TDGF1	Single median maxillary incisor	HP:0006315
6997	TDGF1	Cleft palate	HP:0000175
6997	TDGF1	Asthma	HP:0002099
6997	TDGF1	Tented upper lip vermilion	HP:0010804
6997	TDGF1	Hypothyroidism	HP:0000821
6997	TDGF1	Cyclopia	HP:0009914
6997	TDGF1	Agenesis of corpus callosum	HP:0001274
6997	TDGF1	Short nose	HP:0003196
6997	TDGF1	Microcephaly	HP:0000252
6997	TDGF1	Narrow nasal bridge	HP:0000446
6997	TDGF1	Ambiguous genitalia	HP:0000062
23384	SPECC1L	Umbilical hernia	HP:0001537
23384	SPECC1L	Omphalocele	HP:0001539
23384	SPECC1L	Brachydactyly	HP:0001156
23384	SPECC1L	Diastasis recti	HP:0001540
23384	SPECC1L	Autosomal dominant inheritance	HP:0000006
23384	SPECC1L	Autosomal recessive inheritance	HP:0000007
23384	SPECC1L	Proptosis	HP:0000520
23384	SPECC1L	Infantile onset	HP:0003593
23384	SPECC1L	Generalized hypotonia	HP:0001290
23384	SPECC1L	Cranial asymmetry	HP:0000267
23384	SPECC1L	Tracheoesophageal fistula	HP:0002575
23384	SPECC1L	Advanced eruption of teeth	HP:0006288
23384	SPECC1L	Coarctation of aorta	HP:0001680
23384	SPECC1L	Broad palm	HP:0001169
23384	SPECC1L	Aspiration	HP:0002835
23384	SPECC1L	Conductive hearing impairment	HP:0000405
23384	SPECC1L	Inguinal hernia	HP:0000023
23384	SPECC1L	Arrhythmia	HP:0011675
23384	SPECC1L	Cryptorchidism	HP:0000028
23384	SPECC1L	Abnormality of the skeletal system	HP:0000924
23384	SPECC1L	Epicanthus	HP:0000286
23384	SPECC1L	Abnormality of the helix	HP:0011039
23384	SPECC1L	Depressed nasal bridge	HP:0005280
23384	SPECC1L	Sporadic	HP:0003745
23384	SPECC1L	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
23384	SPECC1L	Dental crowding	HP:0000678
23384	SPECC1L	Short toe	HP:0001831
23384	SPECC1L	Cerebellar vermis hypoplasia	HP:0001320
23384	SPECC1L	Pulmonary hypoplasia	HP:0002089
23384	SPECC1L	Prominent nasal bridge	HP:0000426
23384	SPECC1L	Pulmonary arterial hypertension	HP:0002092
23384	SPECC1L	Wide nasal bridge	HP:0000431
23384	SPECC1L	Deep palmar crease	HP:0006191
23384	SPECC1L	Cleft palate	HP:0000175
23384	SPECC1L	Hypospadias	HP:0000047
23384	SPECC1L	Laryngeal cleft	HP:0008751
23384	SPECC1L	Bifid scrotum	HP:0000048
23384	SPECC1L	Shawl scrotum	HP:0000049
23384	SPECC1L	Natal tooth	HP:0000695
23384	SPECC1L	Round face	HP:0000311
23384	SPECC1L	Hypertelorism	HP:0000316
23384	SPECC1L	Thick eyebrow	HP:0000574
23384	SPECC1L	Smooth philtrum	HP:0000319
23384	SPECC1L	Bifid uvula	HP:0000193
23384	SPECC1L	Abnormality of the ureter	HP:0000069
23384	SPECC1L	Upslanted palpebral fissure	HP:0000582
23384	SPECC1L	Ventriculomegaly	HP:0002119
23384	SPECC1L	Short lingual frenulum	HP:0000200
23384	SPECC1L	Cerebral cortical atrophy	HP:0002120
23384	SPECC1L	Oral cleft	HP:0000202
23384	SPECC1L	Absent gallbladder	HP:0011467
23384	SPECC1L	Cleft upper lip	HP:0000204
23384	SPECC1L	Weak cry	HP:0001612
23384	SPECC1L	Coloboma	HP:0000589
23384	SPECC1L	Abnormality of the kidney	HP:0000077
23384	SPECC1L	Craniosynostosis	HP:0001363
23384	SPECC1L	Prominent forehead	HP:0011220
23384	SPECC1L	Finger syndactyly	HP:0006101
23384	SPECC1L	Cavum septum pellucidum	HP:0002389
23384	SPECC1L	Ectopic kidney	HP:0000086
23384	SPECC1L	Facial cleft	HP:0002006
23384	SPECC1L	Long philtrum	HP:0000343
23384	SPECC1L	Frontal bossing	HP:0002007
23384	SPECC1L	Female pseudohermaphroditism	HP:0010458
23384	SPECC1L	High palate	HP:0000218
23384	SPECC1L	Thin upper lip vermilion	HP:0000219
23384	SPECC1L	Micrognathia	HP:0000347
23384	SPECC1L	Ventricular septal defect	HP:0001629
23384	SPECC1L	Widow's peak	HP:0000349
23384	SPECC1L	Atrial septal defect	HP:0001631
23384	SPECC1L	Dysphagia	HP:0002015
23384	SPECC1L	Intellectual disability	HP:0001249
23384	SPECC1L	Anxiety	HP:0000739
23384	SPECC1L	Tetralogy of Fallot	HP:0001636
23384	SPECC1L	Muscular hypotonia	HP:0001252
23384	SPECC1L	Strabismus	HP:0000486
23384	SPECC1L	Posteriorly rotated ears	HP:0000358
23384	SPECC1L	Anal atresia	HP:0002023
23384	SPECC1L	Everted lower lip vermilion	HP:0000232
23384	SPECC1L	Thin vermilion border	HP:0000233
23384	SPECC1L	Anal stenosis	HP:0002025
23384	SPECC1L	Patent ductus arteriosus	HP:0001643
23384	SPECC1L	Downslanted palpebral fissures	HP:0000494
23384	SPECC1L	Global developmental delay	HP:0001263
23384	SPECC1L	Clinodactyly of the 5th finger	HP:0004209
23384	SPECC1L	Low-set ears	HP:0000369
23384	SPECC1L	Preauricular pit	HP:0004467
23384	SPECC1L	Hiatus hernia	HP:0002036
23384	SPECC1L	Brachycephaly	HP:0000248
23384	SPECC1L	Highly arched eyebrow	HP:0002553
23384	SPECC1L	Telecanthus	HP:0000506
23384	SPECC1L	Agenesis of corpus callosum	HP:0001274
23384	SPECC1L	Ptosis	HP:0000508
23384	SPECC1L	Short nose	HP:0003196
23384	SPECC1L	Pectus excavatum	HP:0000767
23384	SPECC1L	Dimple chin	HP:0010751
23385	NCSTN	Autosomal dominant inheritance	HP:0000006
23385	NCSTN	Acne inversa	HP:0040154
23385	NCSTN	Atypical scarring of skin	HP:0000987
129880	BBS5	Abnormal electroretinogram	HP:0000512
129880	BBS5	Skeletal muscle atrophy	HP:0003202
129880	BBS5	Multicystic kidney dysplasia	HP:0000003
129880	BBS5	Pigmentary retinopathy	HP:0000580
129880	BBS5	Brachydactyly	HP:0001156
129880	BBS5	Hypogonadism	HP:0000135
129880	BBS5	Syndactyly	HP:0001159
129880	BBS5	Autosomal recessive inheritance	HP:0000007
129880	BBS5	Postaxial hand polydactyly	HP:0001162
129880	BBS5	Macular dystrophy	HP:0007754
129880	BBS5	Polydactyly	HP:0010442
129880	BBS5	Hypoplasia of the ovary	HP:0008724
129880	BBS5	Finger syndactyly	HP:0006101
129880	BBS5	Short neck	HP:0000470
129880	BBS5	Cryptorchidism	HP:0000028
129880	BBS5	Hypoplasia of penis	HP:0008736
129880	BBS5	Intellectual disability	HP:0001249
129880	BBS5	Short stature	HP:0004322
129880	BBS5	Nephrotic syndrome	HP:0000100
129880	BBS5	Obesity	HP:0001513
129880	BBS5	External genital hypoplasia	HP:0003241
129880	BBS5	Prominent nasal bridge	HP:0000426
129880	BBS5	Hearing impairment	HP:0000365
129880	BBS5	Downslanted palpebral fissures	HP:0000494
129880	BBS5	Low-set, posteriorly rotated ears	HP:0000368
129880	BBS5	Hepatic fibrosis	HP:0001395
129880	BBS5	Hypertension	HP:0000822
129880	BBS5	Generalized hirsutism	HP:0002230
129880	BBS5	Neurological speech impairment	HP:0002167
129880	BBS5	Medial flaring of the eyebrow	HP:0010747
129880	BBS5	Rod-cone dystrophy	HP:0000510
129880	BBS5	Cognitive impairment	HP:0100543
129880	BBS5	Nystagmus	HP:0000639
56154	TEX15	Increased circulating gonadotropin level	HP:0000837
56154	TEX15	Non-obstructive azoospermia	HP:0011961
56154	TEX15	Obstructive azoospermia	HP:0011962
56154	TEX15	Azoospermia	HP:0000027
56154	TEX15	Decreased testicular size	HP:0008734
56154	TEX15	Cryptozoospermia	HP:0030974
56155	TEX14	Infertility	HP:0000789
56155	TEX14	Azoospermia	HP:0000027
7003	TEAD1	Myopia	HP:0000545
7003	TEAD1	Astigmatism	HP:0000483
7003	TEAD1	Autosomal dominant inheritance	HP:0000006
7003	TEAD1	Slow progression	HP:0003677
7003	TEAD1	Peripapillary chorioretinal atrophy	HP:0007950
23387	SIK3	Immunodeficiency	HP:0002721
23387	SIK3	Seizures	HP:0001250
23387	SIK3	Constipation	HP:0002019
23387	SIK3	Platybasia	HP:0002691
23387	SIK3	Eczema	HP:0000964
23387	SIK3	Arnold-Chiari malformation	HP:0002308
23387	SIK3	Brachydactyly	HP:0001156
23387	SIK3	Sclerosis of skull base	HP:0002694
23387	SIK3	Rhizomelia	HP:0008905
23387	SIK3	Patent ductus arteriosus	HP:0001643
23387	SIK3	Elbow flexion contracture	HP:0002987
23387	SIK3	Knee flexion contracture	HP:0006380
23387	SIK3	Hydrocephalus	HP:0000238
23387	SIK3	Global developmental delay	HP:0001263
23387	SIK3	Metaphyseal irregularity	HP:0003025
23387	SIK3	Bruising susceptibility	HP:0000978
23387	SIK3	Mesomelia	HP:0003027
23387	SIK3	2-3 toe syndactyly	HP:0004691
23387	SIK3	Irregular epiphyses	HP:0010582
23387	SIK3	Frontal bossing	HP:0002007
23387	SIK3	Atrial septal defect	HP:0001631
23389	MED13L	Open mouth	HP:0000194
23389	MED13L	Clinodactyly	HP:0030084
23389	MED13L	Transposition of the great arteries	HP:0001669
23389	MED13L	Triangular face	HP:0000325
23389	MED13L	Autosomal dominant inheritance	HP:0000006
23389	MED13L	Upslanted palpebral fissure	HP:0000582
23389	MED13L	Infantile onset	HP:0003593
23389	MED13L	Generalized hypotonia	HP:0001290
23389	MED13L	Autism	HP:0000717
23389	MED13L	Coloboma	HP:0000589
23389	MED13L	Plagiocephaly	HP:0001357
23389	MED13L	Macrotia	HP:0000400
23389	MED13L	Prominent forehead	HP:0011220
23389	MED13L	Narrow forehead	HP:0000341
23389	MED13L	Short neck	HP:0000470
23389	MED13L	Frontal bossing	HP:0002007
23389	MED13L	Wide mouth	HP:0000154
23389	MED13L	Cryptorchidism	HP:0000028
23389	MED13L	Bulbous nose	HP:0000414
23389	MED13L	Macroglossia	HP:0000158
23389	MED13L	Recurrent infections	HP:0002719
23389	MED13L	Depressed nasal bridge	HP:0005280
23389	MED13L	Poor speech	HP:0002465
23389	MED13L	Talipes equinovarus	HP:0001762
23389	MED13L	Ataxia	HP:0001251
23389	MED13L	Intellectual disability, moderate	HP:0002342
23389	MED13L	Strabismus	HP:0000486
23389	MED13L	Everted lower lip vermilion	HP:0000232
23389	MED13L	Dysarthria	HP:0001260
23389	MED13L	Global developmental delay	HP:0001263
23389	MED13L	Low-set ears	HP:0000369
23389	MED13L	Incomplete penetrance	HP:0003829
23389	MED13L	Motor delay	HP:0001270
23389	MED13L	Patent foramen ovale	HP:0001655
23389	MED13L	Round face	HP:0000311
23389	MED13L	Brachycephaly	HP:0000248
23389	MED13L	Hypertelorism	HP:0000316
7007	TECTA	Autosomal dominant inheritance	HP:0000006
7007	TECTA	Sensorineural hearing impairment	HP:0000407
7007	TECTA	Autosomal recessive inheritance	HP:0000007
56159	TEX11	Abnormality of metabolism/homeostasis	HP:0001939
56159	TEX11	Male infertility	HP:0003251
56159	TEX11	Increased circulating gonadotropin level	HP:0000837
56159	TEX11	Non-obstructive azoospermia	HP:0011961
56159	TEX11	Obstructive azoospermia	HP:0011962
56159	TEX11	Azoospermia	HP:0000027
56159	TEX11	X-linked recessive inheritance	HP:0001419
56159	TEX11	Testicular atrophy	HP:0000029
56159	TEX11	Decreased testicular size	HP:0008734
56160	NSMCE3	Feeding difficulties	HP:0011968
56160	NSMCE3	Wide anterior fontanel	HP:0000260
56160	NSMCE3	Eczema	HP:0000964
56160	NSMCE3	Failure to thrive	HP:0001508
56160	NSMCE3	Autosomal recessive inheritance	HP:0000007
56160	NSMCE3	Muscular hypotonia of the trunk	HP:0008936
56160	NSMCE3	Abnormality of the thymus	HP:0000777
56160	NSMCE3	Pneumonia	HP:0002090
56160	NSMCE3	Bronchiolitis obliterans	HP:0011946
56160	NSMCE3	Mild global developmental delay	HP:0011342
56160	NSMCE3	Abnormal facial shape	HP:0001999
56160	NSMCE3	Emphysema	HP:0002097
56160	NSMCE3	Increased sensitivity to ionizing radiation	HP:0011133
80736	SLC44A4	Autosomal dominant inheritance	HP:0000006
80736	SLC44A4	Sensorineural hearing impairment	HP:0000407
80736	SLC44A4	Tinnitus	HP:0000360
80736	SLC44A4	Progressive	HP:0003676
7010	TEK	Prolonged bleeding time	HP:0003010
7010	TEK	Ocular hypertension	HP:0007906
7010	TEK	Megalocornea	HP:0000485
7010	TEK	Autosomal dominant inheritance	HP:0000006
7010	TEK	Primary congenital glaucoma	HP:0008007
7010	TEK	Autosomal recessive inheritance	HP:0000007
7010	TEK	Abnormality of coagulation	HP:0001928
7010	TEK	Edema	HP:0000969
7010	TEK	Subcutaneous nodule	HP:0001482
7010	TEK	Microcytic anemia	HP:0001935
7010	TEK	Venous malformation	HP:0012721
7010	TEK	Volvulus	HP:0002580
7010	TEK	Glaucoma	HP:0000501
7010	TEK	Intestinal bleeding	HP:0002584
7010	TEK	Visceral angiomatosis	HP:0100761
7010	TEK	Cavernous hemangioma	HP:0001048
7010	TEK	Abnormality of the mouth	HP:0000153
7010	TEK	Arteriovenous malformation	HP:0100026
7010	TEK	Visual loss	HP:0000572
7010	TEK	Nevus flammeus	HP:0001052
7010	TEK	Skin rash	HP:0000988
7010	TEK	Gastrointestinal infarctions	HP:0005244
7010	TEK	Retinal detachment	HP:0000541
7010	TEK	Bone pain	HP:0002653
23394	ADNP	Feeding difficulties	HP:0011968
23394	ADNP	Autosomal dominant inheritance	HP:0000006
23394	ADNP	Broad nasal tip	HP:0000455
23394	ADNP	Infantile onset	HP:0003593
23394	ADNP	Generalized hypotonia	HP:0001290
23394	ADNP	Advanced eruption of teeth	HP:0006288
23394	ADNP	Obsessive-compulsive behavior	HP:0000722
23394	ADNP	Prominent forehead	HP:0011220
23394	ADNP	Long philtrum	HP:0000343
23394	ADNP	Coarse facial features	HP:0000280
23394	ADNP	Autistic behavior	HP:0000729
23394	ADNP	Wide mouth	HP:0000154
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	Narrow palpebral fissure	HP:0045025
23394	ADNP	Short stature	HP:0004322
23394	ADNP	Seizures	HP:0001250
23394	ADNP	High anterior hairline	HP:0009890
23394	ADNP	Strabismus	HP:0000486
23394	ADNP	Everted lower lip vermilion	HP:0000232
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	Widely spaced teeth	HP:0000687
23394	ADNP	Global developmental delay	HP:0001263
23394	ADNP	Low-set, posteriorly rotated ears	HP:0000368
23394	ADNP	Hyperactivity	HP:0000752
23394	ADNP	Eyelid coloboma	HP:0000625
23394	ADNP	Thick lower lip vermilion	HP:0000179
23394	ADNP	Small hand	HP:0200055
23394	ADNP	Growth hormone deficiency	HP:0000824
23394	ADNP	Visual impairment	HP:0000505
23394	ADNP	Short nose	HP:0003196
23394	ADNP	Ptosis	HP:0000508
23394	ADNP	Smooth philtrum	HP:0000319
80739	MPIG6B	Splenomegaly	HP:0001744
80739	MPIG6B	Thrombocytopenia	HP:0001873
80739	MPIG6B	Myelofibrosis	HP:0011974
80739	MPIG6B	Autosomal recessive inheritance	HP:0000007
80739	MPIG6B	Anisopoikilocytosis	HP:0004823
80739	MPIG6B	Anemia	HP:0001903
23395	LARS2	Progressive hearing impairment	HP:0001730
23395	LARS2	Abnormality of the uterus	HP:0000130
23395	LARS2	Seizures	HP:0001250
23395	LARS2	Decreased liver function	HP:0001410
23395	LARS2	Sideroblastic anemia	HP:0001924
23395	LARS2	Autosomal recessive inheritance	HP:0000007
23395	LARS2	Intrauterine growth retardation	HP:0001511
23395	LARS2	Patent ductus arteriosus	HP:0001643
23395	LARS2	Hypoplasia of the uterus	HP:0000013
23395	LARS2	Respiratory insufficiency	HP:0002093
23395	LARS2	Premature ovarian insufficiency	HP:0008209
23395	LARS2	Thrombocytopenia	HP:0001873
23395	LARS2	EEG abnormality	HP:0002353
23395	LARS2	Primary amenorrhea	HP:0000786
23395	LARS2	Hypertension	HP:0000822
23395	LARS2	Lactic acidosis	HP:0003128
23395	LARS2	Congenital onset	HP:0003577
23395	LARS2	Oligohydramnios	HP:0001562
23395	LARS2	Arrhythmia	HP:0011675
23395	LARS2	Ventricular septal defect	HP:0001629
7012	TERC	Aplastic/hypoplastic toenail	HP:0010624
7012	TERC	Aplasia/Hypoplasia of the skin	HP:0008065
7012	TERC	Abnormal blistering of the skin	HP:0008066
7012	TERC	Avascular necrosis	HP:0010885
7012	TERC	Sparse hair	HP:0008070
7012	TERC	Autosomal dominant inheritance	HP:0000006
7012	TERC	Cataract	HP:0000518
7012	TERC	Abnormality of female internal genitalia	HP:0000008
7012	TERC	Abnormality of coagulation	HP:0001928
7012	TERC	Hypermelanotic macule	HP:0001034
7012	TERC	Nail pits	HP:0001803
7012	TERC	Ridged nail	HP:0001807
7012	TERC	Tracheoesophageal fistula	HP:0002575
7012	TERC	Displacement of the urethral meatus	HP:0100627
7012	TERC	Clubbing of fingers	HP:0100759
7012	TERC	Abnormal eyebrow morphology	HP:0000534
7012	TERC	Bone marrow hypocellularity	HP:0005528
7012	TERC	Hypodontia	HP:0000668
7012	TERC	Recurrent respiratory infections	HP:0002205
7012	TERC	Hypopigmented skin patches	HP:0001053
7012	TERC	Carious teeth	HP:0000670
7012	TERC	Pulmonary fibrosis	HP:0002206
7012	TERC	Abnormal testis morphology	HP:0000035
7012	TERC	Reticular hyperpigmentation	HP:0007588
7012	TERC	Taurodontia	HP:0000679
7012	TERC	Premature graying of hair	HP:0002216
7012	TERC	Cerebellar hypoplasia	HP:0001321
7012	TERC	Osteoporosis	HP:0000939
7012	TERC	Reticular pattern on pulmonary HRCT	HP:0025390
7012	TERC	Myelodysplasia	HP:0002863
7012	TERC	Specific learning disability	HP:0001328
7012	TERC	Diabetes mellitus	HP:0000819
7012	TERC	Oral leukoplakia	HP:0002745
7012	TERC	Exertional dyspnea	HP:0002875
7012	TERC	Alopecia	HP:0001596
7012	TERC	Anorectal anomaly	HP:0012732
7012	TERC	Bronchiectasis	HP:0002110
7012	TERC	Cough	HP:0012735
7012	TERC	Rough bone trabeculation	HP:0100670
7012	TERC	Hepatomegaly	HP:0002240
7012	TERC	Periodontitis	HP:0000704
7012	TERC	Recurrent fractures	HP:0002757
7012	TERC	Hypoplasia of the maxilla	HP:0000327
7012	TERC	Pulmonary insufficiency	HP:0010444
7012	TERC	Neoplasm of the pancreas	HP:0002894
7012	TERC	Abnormal fingernail morphology	HP:0001231
7012	TERC	Hyperhidrosis	HP:0000975
7012	TERC	Premature loss of teeth	HP:0006480
7012	TERC	Splenomegaly	HP:0001744
7012	TERC	Thrombocytopenia	HP:0001873
7012	TERC	Cerebral calcification	HP:0002514
7012	TERC	Esophageal stenosis	HP:0010450
7012	TERC	Abnormality of neutrophils	HP:0001874
7012	TERC	Squamous cell carcinoma of the skin	HP:0006739
7012	TERC	Nail dystrophy	HP:0008404
7012	TERC	Urethral stenosis	HP:0008661
7012	TERC	Palmoplantar keratoderma	HP:0000982
7012	TERC	Honeycomb lung	HP:0025175
7012	TERC	Abnormality of the pharynx	HP:0000600
7012	TERC	Scoliosis	HP:0002650
7012	TERC	Ground-glass opacification on pulmonary HRCT	HP:0025179
7012	TERC	Lymphopenia	HP:0001888
7012	TERC	Short stature	HP:0004322
7012	TERC	Ataxia	HP:0001251
7012	TERC	Gastroesophageal reflux	HP:0002020
7012	TERC	White hair	HP:0011364
7012	TERC	Skin vesicle	HP:0200037
7012	TERC	Intrauterine growth retardation	HP:0001511
7012	TERC	Malabsorption	HP:0002024
7012	TERC	Telangiectasia of the skin	HP:0100585
7012	TERC	Skin ulcer	HP:0200042
7012	TERC	Lymphoma	HP:0002665
7012	TERC	Hearing impairment	HP:0000365
7012	TERC	Dermal atrophy	HP:0004334
7012	TERC	Crackles	HP:0030830
7012	TERC	Anemia	HP:0001903
7012	TERC	Global developmental delay	HP:0001263
7012	TERC	Cirrhosis	HP:0001394
7012	TERC	Blepharitis	HP:0000498
7012	TERC	Interstitial pneumonitis	HP:0006515
7012	TERC	Abnormal eyelash morphology	HP:0000499
7012	TERC	Hepatic failure	HP:0001399
7012	TERC	Aplastic anemia	HP:0001915
7012	TERC	Cellular immunodeficiency	HP:0005374
23396	PIP5K1C	Skeletal muscle atrophy	HP:0003202
23396	PIP5K1C	Neonatal death	HP:0003811
23396	PIP5K1C	Arthrogryposis multiplex congenita	HP:0002804
23396	PIP5K1C	Autosomal recessive inheritance	HP:0000007
23396	PIP5K1C	Respiratory insufficiency	HP:0002093
7015	TERT	Autosomal dominant inheritance	HP:0000006
7015	TERT	Cataract	HP:0000518
7015	TERT	Abnormality of female internal genitalia	HP:0000008
7015	TERT	Hypermelanotic macule	HP:0001034
7015	TERT	Nail pits	HP:0001803
7015	TERT	Ridged nail	HP:0001807
7015	TERT	Tracheoesophageal fistula	HP:0002575
7015	TERT	Generalized hyperpigmentation	HP:0007440
7015	TERT	Displacement of the urethral meatus	HP:0100627
7015	TERT	Abnormal eyebrow morphology	HP:0000534
7015	TERT	Abnormality of extrapyramidal motor function	HP:0002071
7015	TERT	Hypopigmented skin patches	HP:0001053
7015	TERT	Abnormal testis morphology	HP:0000035
7015	TERT	Cerebellar hypoplasia	HP:0001321
7015	TERT	Pneumonia	HP:0002090
7015	TERT	Pulmonary arterial hypertension	HP:0002092
7015	TERT	Melanoma	HP:0002861
7015	TERT	Reticular pattern on pulmonary HRCT	HP:0025390
7015	TERT	Myelodysplasia	HP:0002863
7015	TERT	Specific learning disability	HP:0001328
7015	TERT	Diabetes mellitus	HP:0000819
7015	TERT	Abnormal hair morphology	HP:0001595
7015	TERT	Exertional dyspnea	HP:0002875
7015	TERT	Alopecia	HP:0001596
7015	TERT	Bronchiectasis	HP:0002110
7015	TERT	Rough bone trabeculation	HP:0100670
7015	TERT	Ventriculomegaly	HP:0002119
7015	TERT	Hypoplasia of the maxilla	HP:0000327
7015	TERT	Cerebral cortical atrophy	HP:0002120
7015	TERT	Neoplasm of the pancreas	HP:0002894
7015	TERT	Premature loss of teeth	HP:0006480
7015	TERT	Thrombocytopenia	HP:0001873
7015	TERT	Abnormality of neutrophils	HP:0001874
7015	TERT	Squamous cell carcinoma of the skin	HP:0006739
7015	TERT	Honeycomb lung	HP:0025175
7015	TERT	Abnormality of the pharynx	HP:0000600
7015	TERT	Abnormal leukocyte morphology	HP:0001881
7015	TERT	Scoliosis	HP:0002650
7015	TERT	Ground-glass opacification on pulmonary HRCT	HP:0025179
7015	TERT	Generalized hypopigmentation of hair	HP:0011358
7015	TERT	Lymphopenia	HP:0001888
7015	TERT	Neoplasm of the stomach	HP:0006753
7015	TERT	White hair	HP:0011364
7015	TERT	Skin vesicle	HP:0200037
7015	TERT	Neoplasm	HP:0002664
7015	TERT	Skin ulcer	HP:0200042
7015	TERT	Lymphoma	HP:0002665
7015	TERT	Hearing impairment	HP:0000365
7015	TERT	Crackles	HP:0030830
7015	TERT	Anemia	HP:0001903
7015	TERT	Cirrhosis	HP:0001394
7015	TERT	Interstitial pneumonitis	HP:0006515
7015	TERT	Alveolar cell carcinoma	HP:0006519
7015	TERT	Hepatic failure	HP:0001399
7015	TERT	Aplastic anemia	HP:0001915
7015	TERT	Aplastic/hypoplastic toenail	HP:0010624
7015	TERT	Aplasia/Hypoplasia of the skin	HP:0008065
7015	TERT	Abnormal blistering of the skin	HP:0008066
7015	TERT	Avascular necrosis	HP:0010885
7015	TERT	Sparse hair	HP:0008070
7015	TERT	Abnormality of coagulation	HP:0001928
7015	TERT	Clubbing of fingers	HP:0100759
7015	TERT	Bone marrow hypocellularity	HP:0005528
7015	TERT	Abnormality of the lymphatic system	HP:0100763
7015	TERT	Hypodontia	HP:0000668
7015	TERT	Recurrent respiratory infections	HP:0002205
7015	TERT	Pulmonary fibrosis	HP:0002206
7015	TERT	Carious teeth	HP:0000670
7015	TERT	Immunodeficiency	HP:0002721
7015	TERT	Sparse scalp hair	HP:0002209
7015	TERT	Reticular hyperpigmentation	HP:0007588
7015	TERT	Taurodontia	HP:0000679
7015	TERT	Premature graying of hair	HP:0002216
7015	TERT	Osteoporosis	HP:0000939
7015	TERT	Neoplasm of the breast	HP:0100013
7015	TERT	Nevus	HP:0003764
7015	TERT	Oral leukoplakia	HP:0002745
7015	TERT	Anorectal anomaly	HP:0012732
7015	TERT	Dry skin	HP:0000958
7015	TERT	Cough	HP:0012735
7015	TERT	Hepatomegaly	HP:0002240
7015	TERT	Periodontitis	HP:0000704
7015	TERT	Clubbing	HP:0001217
7015	TERT	Recurrent fractures	HP:0002757
7015	TERT	Freckling	HP:0001480
7015	TERT	Pulmonary insufficiency	HP:0010444
7015	TERT	Increased antibody level in blood	HP:0010702
7015	TERT	Abnormal fingernail morphology	HP:0001231
7015	TERT	Hyperhidrosis	HP:0000975
7015	TERT	Splenomegaly	HP:0001744
7015	TERT	Cerebral calcification	HP:0002514
7015	TERT	Esophageal stenosis	HP:0010450
7015	TERT	Nail dystrophy	HP:0008404
7015	TERT	Urethral stenosis	HP:0008661
7015	TERT	Palmoplantar keratoderma	HP:0000982
7015	TERT	Excessive wrinkled skin	HP:0007392
7015	TERT	Intellectual disability	HP:0001249
7015	TERT	Short stature	HP:0004322
7015	TERT	Ataxia	HP:0001251
7015	TERT	Failure to thrive	HP:0001508
7015	TERT	Gastroesophageal reflux	HP:0002020
7015	TERT	Intrauterine growth retardation	HP:0001511
7015	TERT	Retinopathy	HP:0000488
7015	TERT	Malabsorption	HP:0002024
7015	TERT	Telangiectasia of the skin	HP:0100585
7015	TERT	Dermal atrophy	HP:0004334
7015	TERT	Global developmental delay	HP:0001263
7015	TERT	Hyporeflexia	HP:0001265
7015	TERT	Blepharitis	HP:0000498
7015	TERT	Abnormal eyelash morphology	HP:0000499
7015	TERT	Hypertonia	HP:0001276
7015	TERT	Microcephaly	HP:0000252
7015	TERT	Cellular immunodeficiency	HP:0005374
64359	NXN	Pectus carinatum	HP:0000768
64359	NXN	Macrocephaly	HP:0000256
64359	NXN	Umbilical hernia	HP:0001537
64359	NXN	Multicystic kidney dysplasia	HP:0000003
64359	NXN	Brachydactyly	HP:0001156
64359	NXN	Chronic otitis media	HP:0000389
64359	NXN	Rib fusion	HP:0000902
64359	NXN	Proptosis	HP:0000520
64359	NXN	Camptodactyly of finger	HP:0100490
64359	NXN	Abnormal aortic morphology	HP:0001679
64359	NXN	Long eyelashes	HP:0000527
64359	NXN	Hypoplastic female external genitalia	HP:0012815
64359	NXN	Split hand	HP:0001171
64359	NXN	Inguinal hernia	HP:0000023
64359	NXN	Midface retrusion	HP:0011800
64359	NXN	Downturned corners of mouth	HP:0002714
64359	NXN	Short distal phalanx of finger	HP:0009882
64359	NXN	Wide mouth	HP:0000154
64359	NXN	Nevus flammeus	HP:0001052
64359	NXN	Cryptorchidism	HP:0000028
64359	NXN	Hypodontia	HP:0000668
64359	NXN	Recurrent respiratory infections	HP:0002205
64359	NXN	Epicanthus	HP:0000286
64359	NXN	Depressed nasal bridge	HP:0005280
64359	NXN	Hypoplasia of penis	HP:0008736
64359	NXN	Abnormal tricuspid valve morphology	HP:0001702
64359	NXN	Broad thumb	HP:0011304
64359	NXN	Disproportionate short-limb short stature	HP:0008873
64359	NXN	Ectopic anus	HP:0004397
64359	NXN	Abnormal palate morphology	HP:0000174
64359	NXN	Bilateral single transverse palmar creases	HP:0007598
64359	NXN	Wide nasal bridge	HP:0000431
64359	NXN	Tented upper lip vermilion	HP:0010804
64359	NXN	Open bite	HP:0010807
64359	NXN	Ankyloglossia	HP:0010296
64359	NXN	Synostosis of carpal bones	HP:0005048
64359	NXN	Bifid tongue	HP:0010297
64359	NXN	Alopecia	HP:0001596
64359	NXN	Hypertelorism	HP:0000316
64359	NXN	Sandal gap	HP:0001852
64359	NXN	Increased number of teeth	HP:0011069
64359	NXN	Fingernail dysplasia	HP:0100798
64359	NXN	Sacral dimple	HP:0000960
64359	NXN	Short philtrum	HP:0000322
64359	NXN	Upslanted palpebral fissure	HP:0000582
64359	NXN	Abnormality of the hip bone	HP:0003272
64359	NXN	Oral cleft	HP:0000202
64359	NXN	Broad hallux phalanx	HP:0010059
64359	NXN	Anteverted nares	HP:0000463
64359	NXN	Blue sclerae	HP:0000592
64359	NXN	Mesomelia	HP:0003027
64359	NXN	Gingival overgrowth	HP:0000212
64359	NXN	Finger syndactyly	HP:0006101
64359	NXN	Short neck	HP:0000470
64359	NXN	Frontal bossing	HP:0002007
64359	NXN	Exaggerated cupid's bow	HP:0002263
64359	NXN	Long philtrum	HP:0000343
64359	NXN	Scoliosis	HP:0002650
64359	NXN	Micrognathia	HP:0000347
64359	NXN	Ventricular septal defect	HP:0001629
64359	NXN	Vertebral segmentation defect	HP:0003422
64359	NXN	Atrial septal defect	HP:0001631
64359	NXN	Intellectual disability	HP:0001249
64359	NXN	Elbow dislocation	HP:0003042
64359	NXN	Tetralogy of Fallot	HP:0001636
64359	NXN	Strabismus	HP:0000486
64359	NXN	Abnormal pulmonary valve morphology	HP:0001641
64359	NXN	Toe syndactyly	HP:0001770
64359	NXN	Hearing impairment	HP:0000365
64359	NXN	Downslanted palpebral fissures	HP:0000494
64359	NXN	Low-set, posteriorly rotated ears	HP:0000368
64359	NXN	Clinodactyly of the 5th finger	HP:0004209
64359	NXN	Death in infancy	HP:0001522
64359	NXN	Kyphosis	HP:0002808
64359	NXN	Short nose	HP:0003196
64359	NXN	Ptosis	HP:0000508
64359	NXN	Long palpebral fissure	HP:0000637
64359	NXN	Hydronephrosis	HP:0000126
64359	NXN	Pectus excavatum	HP:0000767
23400	ATP13A2	Akinesia	HP:0002304
23400	ATP13A2	Slow saccadic eye movements	HP:0000514
23400	ATP13A2	Blepharospasm	HP:0000643
23400	ATP13A2	Autosomal recessive inheritance	HP:0000007
23400	ATP13A2	Gait disturbance	HP:0001288
23400	ATP13A2	Confusion	HP:0001289
23400	ATP13A2	Leg muscle stiffness	HP:0008969
23400	ATP13A2	Progressive pes cavus	HP:0008075
23400	ATP13A2	Neurogenic bladder	HP:0000011
23400	ATP13A2	Rigidity	HP:0002063
23400	ATP13A2	Abnormality of finger	HP:0001167
23400	ATP13A2	Eyelid apraxia	HP:0000658
23400	ATP13A2	Bradykinesia	HP:0002067
23400	ATP13A2	Parkinsonism	HP:0001300
23400	ATP13A2	Urinary incontinence	HP:0000020
23400	ATP13A2	Progressive cerebellar ataxia	HP:0002073
23400	ATP13A2	Fever	HP:0001945
23400	ATP13A2	Horizontal nystagmus	HP:0000666
23400	ATP13A2	EMG: axonal abnormality	HP:0003482
23400	ATP13A2	Hypoplasia of the corpus callosum	HP:0002079
23400	ATP13A2	Babinski sign	HP:0003487
23400	ATP13A2	Lingual dystonia	HP:0031008
23400	ATP13A2	Abnormal caudate nucleus morphology	HP:0002339
23400	ATP13A2	Mask-like facies	HP:0000298
23400	ATP13A2	Hyperactive patellar reflex	HP:0007083
23400	ATP13A2	Muscle weakness	HP:0001324
23400	ATP13A2	Progressive spastic quadriplegia	HP:0002478
23400	ATP13A2	Bowel incontinence	HP:0002607
23400	ATP13A2	Difficulty walking	HP:0002355
23400	ATP13A2	Dystonia	HP:0001332
23400	ATP13A2	Dyskinesia	HP:0100660
23400	ATP13A2	Hyperreflexia in upper limbs	HP:0007350
23400	ATP13A2	Difficulty in tongue movements	HP:0000183
23400	ATP13A2	Myoclonus	HP:0001336
23400	ATP13A2	Tremor	HP:0001337
23400	ATP13A2	Hyposmia	HP:0004409
23400	ATP13A2	Oculogyric crisis	HP:0010553
23400	ATP13A2	Stooped posture	HP:0025403
23400	ATP13A2	Facial myokymia	HP:0000317
23400	ATP13A2	Sensory axonal neuropathy	HP:0003390
23400	ATP13A2	Cognitive impairment	HP:0100543
23400	ATP13A2	Visual hallucinations	HP:0002367
23400	ATP13A2	Hyperreflexia	HP:0001347
23400	ATP13A2	Hypokinesia	HP:0002375
23400	ATP13A2	Progressive gait ataxia	HP:0007240
23400	ATP13A2	Cerebral cortical atrophy	HP:0002120
23400	ATP13A2	Anosmia	HP:0000458
23400	ATP13A2	Diffuse cerebral atrophy	HP:0002506
23400	ATP13A2	Depressivity	HP:0000716
23400	ATP13A2	Aggressive behavior	HP:0000718
23400	ATP13A2	Spastic tetraplegia	HP:0002510
23400	ATP13A2	Paraparesis	HP:0002385
23400	ATP13A2	Hypomimic face	HP:0000338
23400	ATP13A2	Psychotic episodes	HP:0000725
23400	ATP13A2	Dementia	HP:0000726
23400	ATP13A2	Abnormality of the periventricular white matter	HP:0002518
23400	ATP13A2	Torticollis	HP:0000473
23400	ATP13A2	Fatigue	HP:0012378
23400	ATP13A2	Supranuclear gaze palsy	HP:0000605
23400	ATP13A2	Rapidly progressive	HP:0003678
23400	ATP13A2	Dysphagia	HP:0002015
23400	ATP13A2	Abnormality of the foot	HP:0001760
23400	ATP13A2	Short attention span	HP:0000736
23400	ATP13A2	Pes cavus	HP:0001761
23400	ATP13A2	Hallucinations	HP:0000738
23400	ATP13A2	Seizures	HP:0001250
23400	ATP13A2	Ataxia	HP:0001251
23400	ATP13A2	Apathy	HP:0000741
23400	ATP13A2	Strabismus	HP:0000486
23400	ATP13A2	Lethargy	HP:0001254
23400	ATP13A2	Spasticity	HP:0001257
23400	ATP13A2	Spastic paraplegia	HP:0001258
23400	ATP13A2	Progressive spastic paraplegia	HP:0007020
23400	ATP13A2	Dysarthria	HP:0001260
23400	ATP13A2	Progressive extrapyramidal movement disorder	HP:0007153
23400	ATP13A2	Upgaze palsy	HP:0025331
23400	ATP13A2	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
23400	ATP13A2	Cerebellar atrophy	HP:0001272
23400	ATP13A2	Distal sensory impairment	HP:0002936
23400	ATP13A2	Anarthria	HP:0002425
23400	ATP13A2	Postural instability	HP:0002172
23400	ATP13A2	Hypertonia	HP:0001276
23400	ATP13A2	Generalized muscle weakness	HP:0003324
23400	ATP13A2	Postural tremor	HP:0002174
23400	ATP13A2	Vertical supranuclear gaze palsy	HP:0000511
23400	ATP13A2	Nystagmus	HP:0000639
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
80746	TSEN2	Feeding difficulties	HP:0011968
80746	TSEN2	Seizures	HP:0001250
80746	TSEN2	Opisthotonus	HP:0002179
80746	TSEN2	Ventriculomegaly	HP:0002119
80746	TSEN2	Autosomal recessive inheritance	HP:0000007
80746	TSEN2	Muscular hypotonia of the trunk	HP:0008936
80746	TSEN2	Cerebellar hypoplasia	HP:0001321
80746	TSEN2	Generalized hypotonia	HP:0001290
80746	TSEN2	Cerebral atrophy	HP:0002059
80746	TSEN2	Extrapyramidal dyskinesia	HP:0007308
80746	TSEN2	Limb hypertonia	HP:0002509
80746	TSEN2	Sloping forehead	HP:0000340
80746	TSEN2	Dystonia	HP:0001332
80746	TSEN2	Simplified gyral pattern	HP:0009879
80746	TSEN2	Cerebellar atrophy	HP:0001272
80746	TSEN2	Chorea	HP:0002072
80746	TSEN2	Clonus	HP:0002169
80746	TSEN2	Visual impairment	HP:0000505
80746	TSEN2	Congenital onset	HP:0003577
80746	TSEN2	Hypoplasia of the brainstem	HP:0002365
80746	TSEN2	Progressive microcephaly	HP:0000253
80746	TSEN2	Hypoplasia of the corpus callosum	HP:0002079
80746	TSEN2	Babinski sign	HP:0003487
7019	TFAM	Hypoalbuminemia	HP:0003073
7019	TFAM	Failure to thrive	HP:0001508
7019	TFAM	Ascites	HP:0001541
7019	TFAM	Microvesicular hepatic steatosis	HP:0001414
7019	TFAM	Autosomal recessive inheritance	HP:0000007
7019	TFAM	Intrauterine growth retardation	HP:0001511
7019	TFAM	Cirrhosis	HP:0001394
7019	TFAM	Death in infancy	HP:0001522
7019	TFAM	Hepatic failure	HP:0001399
7019	TFAM	Hypoglycemia	HP:0001943
7019	TFAM	Jaundice	HP:0000952
7019	TFAM	Abnormality of the coagulation cascade	HP:0003256
7019	TFAM	Congenital onset	HP:0003577
7019	TFAM	Progressive	HP:0003676
7019	TFAM	Elevated hepatic transaminase	HP:0002910
56172	ANKH	Macrocephaly	HP:0000256
56172	ANKH	Facial palsy	HP:0010628
56172	ANKH	Osteoarthritis	HP:0002758
56172	ANKH	Autosomal dominant inheritance	HP:0000006
56172	ANKH	Sclerosis of skull base	HP:0002694
56172	ANKH	Metaphyseal widening	HP:0003016
56172	ANKH	Calvarial osteosclerosis	HP:0005450
56172	ANKH	Abnormality of the nasopharynx	HP:0001739
56172	ANKH	Arthralgia	HP:0002829
56172	ANKH	Craniofacial hyperostosis	HP:0004493
56172	ANKH	Nasal obstruction	HP:0001742
56172	ANKH	Abnormality of pelvic girdle bone morphology	HP:0002644
56172	ANKH	Conductive hearing impairment	HP:0000405
56172	ANKH	Sensorineural hearing impairment	HP:0000407
56172	ANKH	Polyarticular chondrocalcinosis	HP:0005017
56172	ANKH	Mixed hearing impairment	HP:0000410
56172	ANKH	Skeletal dysplasia	HP:0002652
56172	ANKH	Joint dislocation	HP:0001373
56172	ANKH	Abnormality of the vertebral column	HP:0000925
56172	ANKH	Limitation of joint mobility	HP:0001376
56172	ANKH	Depressed nasal bridge	HP:0005280
56172	ANKH	Arthropathy	HP:0003040
56172	ANKH	Seizures	HP:0001250
56172	ANKH	Chondrocalcinosis	HP:0000934
56172	ANKH	Joint swelling	HP:0001386
56172	ANKH	Wide nasal bridge	HP:0000431
56172	ANKH	Mandibular prognathia	HP:0000303
56172	ANKH	Erlenmeyer flask deformity of the femurs	HP:0004975
56172	ANKH	Calcification of cartilage	HP:0100593
56172	ANKH	Abnormality of the metaphysis	HP:0000944
56172	ANKH	Club-shaped distal femur	HP:0006384
56172	ANKH	Abnormality of the intervertebral disk	HP:0005108
56172	ANKH	Misalignment of teeth	HP:0000692
56172	ANKH	Bony paranasal bossing	HP:0004407
56172	ANKH	Visual impairment	HP:0000505
56172	ANKH	Telecanthus	HP:0000506
56172	ANKH	Osteopetrosis	HP:0011002
56172	ANKH	Hypertelorism	HP:0000316
56172	ANKH	Adult onset	HP:0003581
7020	TFAP2A	Multicystic kidney dysplasia	HP:0000003
7020	TFAP2A	Hemangioma	HP:0001028
7020	TFAP2A	Cataract	HP:0000518
7020	TFAP2A	Autosomal dominant inheritance	HP:0000006
7020	TFAP2A	Dolichocephaly	HP:0000268
7020	TFAP2A	Overfolded helix	HP:0000396
7020	TFAP2A	Hypoplastic fingernail	HP:0001804
7020	TFAP2A	Anophthalmia	HP:0000528
7020	TFAP2A	Malar flattening	HP:0000272
7020	TFAP2A	Conductive hearing impairment	HP:0000405
7020	TFAP2A	Ectopic thymus tissue	HP:0010517
7020	TFAP2A	Proximal placement of thumb	HP:0009623
7020	TFAP2A	Sensorineural hearing impairment	HP:0000407
7020	TFAP2A	Preaxial hand polydactyly	HP:0001177
7020	TFAP2A	Cryptorchidism	HP:0000028
7020	TFAP2A	Supraauricular pit	HP:0008606
7020	TFAP2A	Agenesis of cerebellar vermis	HP:0002335
7020	TFAP2A	Dermoid cyst	HP:0025247
7020	TFAP2A	Depressed nasal bridge	HP:0005280
7020	TFAP2A	Aplasia cutis congenita	HP:0001057
7020	TFAP2A	Myopia	HP:0000545
7020	TFAP2A	White forelock	HP:0002211
7020	TFAP2A	Abnormality of the dentition	HP:0000164
7020	TFAP2A	Short nasal septum	HP:0000420
7020	TFAP2A	Premature graying of hair	HP:0002216
7020	TFAP2A	Elbow flexion contracture	HP:0002987
7020	TFAP2A	Upper lip pit	HP:0100268
7020	TFAP2A	Wide nasal bridge	HP:0000431
7020	TFAP2A	Cleft palate	HP:0000175
7020	TFAP2A	Hypospadias	HP:0000047
7020	TFAP2A	Malrotation of colon	HP:0004785
7020	TFAP2A	Short thumb	HP:0009778
7020	TFAP2A	Microdontia	HP:0000691
7020	TFAP2A	Microphthalmia	HP:0000568
7020	TFAP2A	Single transverse palmar crease	HP:0000954
7020	TFAP2A	Hypertelorism	HP:0000316
7020	TFAP2A	Fingernail dysplasia	HP:0100798
7020	TFAP2A	Postnatal growth retardation	HP:0008897
7020	TFAP2A	Branchial anomaly	HP:0009794
7020	TFAP2A	Nasolacrimal duct obstruction	HP:0000579
7020	TFAP2A	Lower lip pit	HP:0000196
7020	TFAP2A	Upslanted palpebral fissure	HP:0000582
7020	TFAP2A	Hamartoma	HP:0010566
7020	TFAP2A	Broad nasal tip	HP:0000455
7020	TFAP2A	Nasal speech	HP:0001611
7020	TFAP2A	Reduced number of teeth	HP:0009804
7020	TFAP2A	Cleft upper lip	HP:0000204
7020	TFAP2A	Deep philtrum	HP:0002002
7020	TFAP2A	Wide intermamillary distance	HP:0006610
7020	TFAP2A	Short neck	HP:0000470
7020	TFAP2A	High palate	HP:0000218
7020	TFAP2A	Atypical scarring of skin	HP:0000987
7020	TFAP2A	Micrognathia	HP:0000347
7020	TFAP2A	Small forehead	HP:0000350
7020	TFAP2A	Retinal coloboma	HP:0000480
7020	TFAP2A	Fusion of middle ear ossicles	HP:0005473
7020	TFAP2A	Duplication of internal organs	HP:0005217
7020	TFAP2A	Microcornea	HP:0000482
7020	TFAP2A	Short stature	HP:0004322
7020	TFAP2A	Seizures	HP:0001250
7020	TFAP2A	Iris coloboma	HP:0000612
7020	TFAP2A	Gastroesophageal reflux	HP:0002020
7020	TFAP2A	Pyloric stenosis	HP:0002021
7020	TFAP2A	Strabismus	HP:0000486
7020	TFAP2A	Posteriorly rotated ears	HP:0000358
7020	TFAP2A	Intrauterine growth retardation	HP:0001511
7020	TFAP2A	Microtia	HP:0008551
7020	TFAP2A	Renal agenesis	HP:0000104
7020	TFAP2A	Everted lower lip vermilion	HP:0000232
7020	TFAP2A	Intellectual disability, mild	HP:0001256
7020	TFAP2A	Renal cyst	HP:0000107
7020	TFAP2A	Hyperlordosis	HP:0003307
7020	TFAP2A	Non-midline cleft lip	HP:0100335
7020	TFAP2A	Dermal atrophy	HP:0004334
7020	TFAP2A	Hypoplastic superior helix	HP:0008559
7020	TFAP2A	Low-set, posteriorly rotated ears	HP:0000368
7020	TFAP2A	Postauricular pit	HP:0004464
7020	TFAP2A	Low-set ears	HP:0000369
7020	TFAP2A	Clinodactyly of the 5th finger	HP:0004209
7020	TFAP2A	Low posterior hairline	HP:0002162
7020	TFAP2A	Preauricular pit	HP:0004467
7020	TFAP2A	Neurological speech impairment	HP:0002167
7020	TFAP2A	Kyphosis	HP:0002808
7020	TFAP2A	Abnormality of the pinna	HP:0000377
7020	TFAP2A	Telecanthus	HP:0000506
7020	TFAP2A	Ptosis	HP:0000508
7020	TFAP2A	Microcephaly	HP:0000252
7020	TFAP2A	Hydronephrosis	HP:0000126
7020	TFAP2A	Supernumerary nipple	HP:0002558
7020	TFAP2A	Nystagmus	HP:0000639
23404	EXOSC2	Brachydactyly	HP:0001156
23404	EXOSC2	Upslanted palpebral fissure	HP:0000582
23404	EXOSC2	Sparse hair	HP:0008070
23404	EXOSC2	Broad nasal tip	HP:0000455
23404	EXOSC2	Broad columella	HP:0010761
23404	EXOSC2	Short palpebral fissure	HP:0012745
23404	EXOSC2	Wide nasal base	HP:0012810
23404	EXOSC2	Long philtrum	HP:0000343
23404	EXOSC2	Sensorineural hearing impairment	HP:0000407
23404	EXOSC2	High forehead	HP:0000348
23404	EXOSC2	Delayed myelination	HP:0012448
23404	EXOSC2	Myopia	HP:0000545
23404	EXOSC2	Posteriorly rotated ears	HP:0000358
23404	EXOSC2	Strabismus	HP:0000486
23404	EXOSC2	Broad thumb	HP:0011304
23404	EXOSC2	Intellectual disability, mild	HP:0001256
23404	EXOSC2	Deeply set eye	HP:0000490
23404	EXOSC2	Corneal dystrophy	HP:0001131
23404	EXOSC2	Delayed speech and language development	HP:0000750
23404	EXOSC2	Low-set ears	HP:0000369
23404	EXOSC2	Variable expressivity	HP:0003828
23404	EXOSC2	Glaucoma	HP:0000501
23404	EXOSC2	Hypothyroidism	HP:0000821
23404	EXOSC2	Motor delay	HP:0001270
23404	EXOSC2	Cerebellar atrophy	HP:0001272
23404	EXOSC2	Alopecia	HP:0001596
23404	EXOSC2	Rod-cone dystrophy	HP:0000510
23404	EXOSC2	Nystagmus	HP:0000639
23405	DICER1	Pilomatrixoma	HP:0030434
23405	DICER1	Euthyroid multinodular goiter	HP:0000866
23405	DICER1	Multinodular goiter	HP:0005987
23405	DICER1	Medulloblastoma	HP:0002885
23405	DICER1	Autosomal dominant inheritance	HP:0000006
23405	DICER1	Ovarian neoplasm	HP:0100615
23405	DICER1	Ovarian thecoma	HP:0030983
23405	DICER1	Testicular seminoma	HP:0100617
23405	DICER1	Sertoli cell neoplasm	HP:0100619
23405	DICER1	Thyroid carcinoma	HP:0002890
23405	DICER1	Rhabdomyosarcoma	HP:0002859
23405	DICER1	Nephroblastoma	HP:0002667
23405	DICER1	Thyroid nodule	HP:0025388
23405	DICER1	Basal cell carcinoma	HP:0002671
23405	DICER1	Papillary thyroid carcinoma	HP:0002895
23405	DICER1	Renal cell carcinoma	HP:0005584
23405	DICER1	Pleuropulmonary blastoma	HP:0100528
23405	DICER1	Medulloepithelioma	HP:0030071
23405	DICER1	Embryonal rhabdomyosarcoma	HP:0006743
23405	DICER1	Cerebellar medulloblastoma	HP:0007129
23405	DICER1	Alveolar rhabdomyosarcoma	HP:0006779
23405	DICER1	Colorectal polyposis	HP:0200063
7021	TFAP2B	Mesoaxial foot polydactyly	HP:0010112
7021	TFAP2B	Short philtrum	HP:0000322
7021	TFAP2B	Autosomal dominant inheritance	HP:0000006
7021	TFAP2B	Broad nasal tip	HP:0000455
7021	TFAP2B	Depressed nasal ridge	HP:0000457
7021	TFAP2B	Prominent occiput	HP:0000269
7021	TFAP2B	Mesoaxial hand polydactyly	HP:0006159
7021	TFAP2B	Triangular mouth	HP:0000207
7021	TFAP2B	Malar flattening	HP:0000272
7021	TFAP2B	Broad forehead	HP:0000337
7021	TFAP2B	Parasomnia	HP:0025234
7021	TFAP2B	Protruding ear	HP:0000411
7021	TFAP2B	Distal/middle symphalangism of 5th finger	HP:0009244
7021	TFAP2B	Ventricular septal defect	HP:0001629
7021	TFAP2B	Depressed nasal bridge	HP:0005280
7021	TFAP2B	Myopia	HP:0000545
7021	TFAP2B	Strabismus	HP:0000486
7021	TFAP2B	Everted lower lip vermilion	HP:0000232
7021	TFAP2B	Intellectual disability, mild	HP:0001256
7021	TFAP2B	Toe syndactyly	HP:0001770
7021	TFAP2B	Patent ductus arteriosus	HP:0001643
7021	TFAP2B	Hearing impairment	HP:0000365
7021	TFAP2B	Downslanted palpebral fissures	HP:0000494
7021	TFAP2B	Global developmental delay	HP:0001263
7021	TFAP2B	Clinodactyly of the 5th finger	HP:0004209
7021	TFAP2B	Low-set ears	HP:0000369
7021	TFAP2B	No permanent dentition	HP:0008498
7021	TFAP2B	Thick vermilion border	HP:0012471
7021	TFAP2B	Sleep disturbance	HP:0002360
7021	TFAP2B	Highly arched eyebrow	HP:0002553
7021	TFAP2B	Symphalangism of the 5th finger	HP:0004218
7021	TFAP2B	Ptosis	HP:0000508
7021	TFAP2B	Hypertelorism	HP:0000316
7021	TFAP2B	Short middle phalanx of the 5th finger	HP:0004220
7021	TFAP2B	Supernumerary nipple	HP:0002558
7021	TFAP2B	Thick eyebrow	HP:0000574
7021	TFAP2B	Persistence of primary teeth	HP:0006335
7025	NR2F1	Cerebral visual impairment	HP:0100704
7025	NR2F1	Intellectual disability	HP:0001249
7025	NR2F1	Visual field defect	HP:0001123
7025	NR2F1	Strabismus	HP:0000486
7025	NR2F1	Autosomal dominant inheritance	HP:0000006
7025	NR2F1	Optic atrophy	HP:0000648
7025	NR2F1	Tapered finger	HP:0001182
7025	NR2F1	Nystagmus	HP:0000639
7025	NR2F1	Optic disc pallor	HP:0000543
7025	NR2F1	Global developmental delay	HP:0001263
7025	NR2F1	Reduced visual acuity	HP:0007663
7026	NR2F2	Coarctation of aorta	HP:0001680
7026	NR2F2	Aortic valve stenosis	HP:0001650
7026	NR2F2	Tetralogy of Fallot	HP:0001636
7026	NR2F2	Autosomal dominant inheritance	HP:0000006
7026	NR2F2	Atrioventricular canal defect	HP:0006695
7026	NR2F2	Ventricular septal defect	HP:0001629
7026	NR2F2	Hypoplastic left heart	HP:0004383
23414	ZFPM2	Primary gonadal insufficiency	HP:0008193
23414	ZFPM2	Gynecomastia	HP:0000771
23414	ZFPM2	Brachydactyly	HP:0001156
23414	ZFPM2	Gonadal dysgenesis	HP:0000133
23414	ZFPM2	Autosomal dominant inheritance	HP:0000006
23414	ZFPM2	Proptosis	HP:0000520
23414	ZFPM2	Congenital diaphragmatic hernia	HP:0000776
23414	ZFPM2	Dolichocephaly	HP:0000268
23414	ZFPM2	Primary amenorrhea	HP:0000786
23414	ZFPM2	Ovarian gonadoblastoma	HP:0000149
23414	ZFPM2	Hypoplasia of the vagina	HP:0008726
23414	ZFPM2	Decreased serum estradiol	HP:0008214
23414	ZFPM2	Female external genitalia in individual with 46,XY karyotype	HP:0008730
23414	ZFPM2	Azoospermia	HP:0000027
23414	ZFPM2	Cryptorchidism	HP:0000028
23414	ZFPM2	Decreased testicular size	HP:0008734
23414	ZFPM2	Testicular gonadoblastoma	HP:0000030
23414	ZFPM2	Underdeveloped supraorbital ridges	HP:0009891
23414	ZFPM2	Sparse axillary hair	HP:0002215
23414	ZFPM2	Elevated circulating follicle stimulating hormone level	HP:0008232
23414	ZFPM2	Urogenital sinus anomaly	HP:0100779
23414	ZFPM2	Osteoporosis	HP:0000939
23414	ZFPM2	Abnormality of the scrotum	HP:0000045
23414	ZFPM2	Hypospadias	HP:0000047
23414	ZFPM2	Hypergonadotropic hypogonadism	HP:0000815
23414	ZFPM2	Sparse pubic hair	HP:0002225
23414	ZFPM2	Male infertility	HP:0003251
23414	ZFPM2	Micropenis	HP:0000054
23414	ZFPM2	Delayed puberty	HP:0000823
23414	ZFPM2	Abnormality of the labia	HP:0000058
23414	ZFPM2	Ambiguous genitalia	HP:0000062
23414	ZFPM2	Delayed skeletal maturation	HP:0002750
23414	ZFPM2	Fused labia minora	HP:0000063
23414	ZFPM2	Elevated circulating luteinizing hormone level	HP:0011969
23414	ZFPM2	Vanishing testis	HP:0012870
23414	ZFPM2	Adrenal insufficiency	HP:0000846
23414	ZFPM2	Broad forehead	HP:0000337
23414	ZFPM2	Abnormal sex determination	HP:0012244
23414	ZFPM2	Sex reversal	HP:0012245
23414	ZFPM2	Abnormality of cardiovascular system morphology	HP:0030680
23414	ZFPM2	Autistic behavior	HP:0000729
23414	ZFPM2	Clitoral hypertrophy	HP:0008665
23414	ZFPM2	Streak ovary	HP:0010464
23414	ZFPM2	Decreased fertility in females	HP:0000868
23414	ZFPM2	Nephrotic syndrome	HP:0000100
23414	ZFPM2	Tetralogy of Fallot	HP:0001636
23414	ZFPM2	Intrauterine growth retardation	HP:0001511
23414	ZFPM2	Thin vermilion border	HP:0000233
23414	ZFPM2	Nephroblastoma	HP:0002667
23414	ZFPM2	Decreased serum testosterone level	HP:0040171
23414	ZFPM2	Abnormal nasal morphology	HP:0005105
23414	ZFPM2	Clinodactyly of the 5th finger	HP:0004209
23414	ZFPM2	Preauricular pit	HP:0004467
23414	ZFPM2	Absence of secondary sex characteristics	HP:0008187
64374	SIL1	Pectus carinatum	HP:0000768
64374	SIL1	Skeletal muscle atrophy	HP:0003202
64374	SIL1	Areflexia	HP:0001284
64374	SIL1	Brachydactyly	HP:0001156
64374	SIL1	Cataract	HP:0000518
64374	SIL1	Developmental cataract	HP:0000519
64374	SIL1	Autosomal recessive inheritance	HP:0000007
64374	SIL1	Hypogonadism	HP:0000135
64374	SIL1	Optic atrophy	HP:0000648
64374	SIL1	Infantile onset	HP:0003593
64374	SIL1	Generalized hypotonia	HP:0001290
64374	SIL1	Hip dislocation	HP:0002827
64374	SIL1	Abnormality of the metacarpal bones	HP:0001163
64374	SIL1	Psychomotor retardation	HP:0025356
64374	SIL1	Metatarsus valgus	HP:0010508
64374	SIL1	Rigidity	HP:0002063
64374	SIL1	Abnormality of finger	HP:0001167
64374	SIL1	Abnormal circulating creatine kinase concentration	HP:0040081
64374	SIL1	Gait ataxia	HP:0002066
64374	SIL1	Limb ataxia	HP:0002070
64374	SIL1	Cubitus valgus	HP:0002967
64374	SIL1	Abnormality of the cerebellar vermis	HP:0002334
64374	SIL1	Elevated serum creatine kinase	HP:0003236
64374	SIL1	Cerebellar hypoplasia	HP:0001321
64374	SIL1	External genital hypoplasia	HP:0003241
64374	SIL1	Hypergonadotropic hypogonadism	HP:0000815
64374	SIL1	Specific learning disability	HP:0001328
64374	SIL1	Muscle flaccidity	HP:0010547
64374	SIL1	Aplasia/Hypoplasia involving the skeletal musculature	HP:0001460
64374	SIL1	Dyskinesia	HP:0100660
64374	SIL1	Severe short stature	HP:0003510
64374	SIL1	Short palm	HP:0004279
64374	SIL1	Short metacarpal	HP:0010049
64374	SIL1	Dysphonia	HP:0001618
64374	SIL1	Cerebellar cortical atrophy	HP:0008278
64374	SIL1	Scoliosis	HP:0002650
64374	SIL1	Flexion contracture	HP:0001371
64374	SIL1	Rimmed vacuoles	HP:0003805
64374	SIL1	Muscle stiffness	HP:0003552
64374	SIL1	Intellectual disability	HP:0001249
64374	SIL1	Short stature	HP:0004322
64374	SIL1	Pes planus	HP:0001763
64374	SIL1	Ataxia	HP:0001251
64374	SIL1	Failure to thrive	HP:0001508
64374	SIL1	Muscular hypotonia	HP:0001252
64374	SIL1	Strabismus	HP:0000486
64374	SIL1	Peripheral neuropathy	HP:0009830
64374	SIL1	Centrally nucleated skeletal muscle fibers	HP:0003687
64374	SIL1	Muscular dystrophy	HP:0003560
64374	SIL1	Spasticity	HP:0001257
64374	SIL1	Hip dysplasia	HP:0001385
64374	SIL1	Dysarthria	HP:0001260
64374	SIL1	Global developmental delay	HP:0001263
64374	SIL1	Avascular necrosis of the capital femoral epiphysis	HP:0005743
64374	SIL1	Abnormal lactate dehydrogenase activity	HP:0045040
64374	SIL1	Abnormal aldolase level	HP:0012400
64374	SIL1	Coxa valga	HP:0002673
64374	SIL1	Hyporeflexia	HP:0001265
64374	SIL1	Short metatarsal	HP:0010743
64374	SIL1	Kyphosis	HP:0002808
64374	SIL1	Progressive muscle weakness	HP:0003323
64374	SIL1	Microcephaly	HP:0000252
64374	SIL1	Myopathy	HP:0003198
64374	SIL1	Nystagmus	HP:0000639
7030	TFE3	Renal cell carcinoma	HP:0005584
7030	TFE3	Somatic mutation	HP:0001428
64377	CHST8	Autosomal recessive inheritance	HP:0000007
64377	CHST8	White scaling skin	HP:0040190
23417	MLYCD	Chronic constipation	HP:0012450
23417	MLYCD	Short stature	HP:0004322
23417	MLYCD	Seizures	HP:0001250
23417	MLYCD	Constipation	HP:0002019
23417	MLYCD	Muscular hypotonia	HP:0001252
23417	MLYCD	Autosomal recessive inheritance	HP:0000007
23417	MLYCD	Hypertrophic cardiomyopathy	HP:0001639
23417	MLYCD	Generalized hypotonia	HP:0001290
23417	MLYCD	Abdominal pain	HP:0002027
23417	MLYCD	Global developmental delay	HP:0001263
23417	MLYCD	Pachygyria	HP:0001302
23417	MLYCD	Metabolic acidosis	HP:0001942
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
23418	CRB1	Abnormal electroretinogram	HP:0000512
23418	CRB1	Cataract	HP:0000518
23418	CRB1	Autosomal dominant inheritance	HP:0000006
23418	CRB1	Hypogonadism	HP:0000135
23418	CRB1	Autosomal recessive inheritance	HP:0000007
23418	CRB1	Optic atrophy	HP:0000648
23418	CRB1	X-linked inheritance	HP:0001417
23418	CRB1	Pendular nystagmus	HP:0012043
23418	CRB1	Conductive hearing impairment	HP:0000405
23418	CRB1	Hemiplegia/hemiparesis	HP:0004374
23418	CRB1	Nyctalopia	HP:0000662
23418	CRB1	Sensorineural hearing impairment	HP:0000407
23418	CRB1	Abnormality of retinal pigmentation	HP:0007703
23418	CRB1	Hypermetropia	HP:0000540
23418	CRB1	Hypoplasia of penis	HP:0008736
23418	CRB1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
23418	CRB1	Abnormal testis morphology	HP:0000035
23418	CRB1	Encephalocele	HP:0002084
23418	CRB1	Undetectable electroretinogram	HP:0000550
23418	CRB1	Wide nasal bridge	HP:0000431
23418	CRB1	Keratoconus	HP:0000563
23418	CRB1	High hypermetropia	HP:0008499
23418	CRB1	Esotropia	HP:0000565
23418	CRB1	Bone spicule pigmentation of the retina	HP:0007737
23418	CRB1	Hyperreflexia	HP:0001347
23418	CRB1	Hyperinsulinemia	HP:0000842
23418	CRB1	Anteverted nares	HP:0000463
23418	CRB1	Ophthalmoplegia	HP:0000602
23418	CRB1	Type II diabetes mellitus	HP:0005978
23418	CRB1	Atypical scarring of skin	HP:0000987
23418	CRB1	Abnormality of neuronal migration	HP:0002269
23418	CRB1	Vitreoretinopathy	HP:0007773
23418	CRB1	Paravenous chorioretinal atrophy	HP:0007903
23418	CRB1	Intellectual disability	HP:0001249
23418	CRB1	Seizures	HP:0001250
23418	CRB1	Muscular hypotonia	HP:0001252
23418	CRB1	Photophobia	HP:0000613
23418	CRB1	Obesity	HP:0001513
23418	CRB1	Blindness	HP:0000618
23418	CRB1	Hearing impairment	HP:0000365
23418	CRB1	Abnormal retinal vascular morphology	HP:0008046
23418	CRB1	Global developmental delay	HP:0001263
23418	CRB1	Glaucoma	HP:0000501
23418	CRB1	Severely reduced visual acuity	HP:0001141
23418	CRB1	Visual impairment	HP:0000505
23418	CRB1	Progressive night blindness	HP:0007675
23418	CRB1	Abnormality of the optic disc	HP:0012795
23418	CRB1	Rod-cone dystrophy	HP:0000510
23418	CRB1	Nystagmus	HP:0000639
7036	TFR2	Lymphopenia	HP:0001888
7036	TFR2	Impotence	HP:0000802
7036	TFR2	Cardiomyopathy	HP:0001638
7036	TFR2	Autosomal recessive inheritance	HP:0000007
7036	TFR2	Hypogonadotrophic hypogonadism	HP:0000044
7036	TFR2	Amenorrhea	HP:0000141
7036	TFR2	Anemia	HP:0001903
7036	TFR2	Increased serum ferritin	HP:0003281
7036	TFR2	Cirrhosis	HP:0001394
7036	TFR2	Purpura	HP:0000979
7036	TFR2	Neutropenia	HP:0001875
7036	TFR2	Arthritis	HP:0001369
7036	TFR2	Hyperpigmentation of the skin	HP:0000953
7036	TFR2	Fatigue	HP:0012378
7036	TFR2	Increased serum iron	HP:0003452
7036	TFR2	Elevated hepatic transaminase	HP:0002910
7037	TFRC	Immunodeficiency	HP:0002721
7037	TFRC	Failure to thrive	HP:0001508
7037	TFRC	Sepsis	HP:0100806
7037	TFRC	Meningitis	HP:0001287
7037	TFRC	Autosomal recessive inheritance	HP:0000007
7037	TFRC	Chronic oral candidiasis	HP:0009098
7037	TFRC	Chronic diarrhea	HP:0002028
7037	TFRC	Anemia	HP:0001903
7037	TFRC	Recurrent sinopulmonary infections	HP:0005425
7037	TFRC	Neutropenia	HP:0001875
7037	TFRC	Intermittent thrombocytopenia	HP:0004854
7037	TFRC	Decreased antibody level in blood	HP:0004313
7037	TFRC	Conjunctivitis	HP:0000509
7038	TG	Intellectual disability	HP:0001249
7038	TG	Umbilical hernia	HP:0001537
7038	TG	Short stature	HP:0004322
7038	TG	Constipation	HP:0002019
7038	TG	Muscular hypotonia	HP:0001252
7038	TG	Abdominal distention	HP:0003270
7038	TG	Autosomal recessive inheritance	HP:0000007
7038	TG	Thyroid carcinoma	HP:0002890
7038	TG	Increased T3/T4 ratio	HP:0012559
7038	TG	Large fontanelles	HP:0000239
7038	TG	Global developmental delay	HP:0001263
7038	TG	Hypersomnia	HP:0100786
7038	TG	Goiter	HP:0000853
7038	TG	Hypothyroidism	HP:0000821
7038	TG	Coarse facial features	HP:0000280
7038	TG	Jaundice	HP:0000952
7038	TG	Fatigue	HP:0012378
7038	TG	Macroglossia	HP:0000158
7038	TG	Compensated hypothyroidism	HP:0008223
7039	TGFA	Microdontia	HP:0000691
7039	TGFA	Oligodontia	HP:0000677
7039	TGFA	Hypoplasia of the maxilla	HP:0000327
7039	TGFA	Micrognathia	HP:0000347
7040	TGFB1	Abnormal subcutaneous fat tissue distribution	HP:0007552
7040	TGFB1	Elevated aldolase level	HP:0012544
7040	TGFB1	Skeletal muscle atrophy	HP:0003202
7040	TGFB1	Facial palsy	HP:0010628
7040	TGFB1	Sclerosis of skull base	HP:0002694
7040	TGFB1	Autosomal dominant inheritance	HP:0000006
7040	TGFB1	Hypogonadism	HP:0000135
7040	TGFB1	Proptosis	HP:0000520
7040	TGFB1	Optic atrophy	HP:0000648
7040	TGFB1	Diplopia	HP:0000651
7040	TGFB1	Headache	HP:0002315
7040	TGFB1	Cerebral atrophy	HP:0002059
7040	TGFB1	Urinary retention	HP:0000016
7040	TGFB1	Encephalopathy	HP:0001298
7040	TGFB1	Colitis	HP:0002583
7040	TGFB1	Bone marrow hypocellularity	HP:0005528
7040	TGFB1	Recurrent respiratory infections	HP:0002205
7040	TGFB1	Carious teeth	HP:0000670
7040	TGFB1	Metaphyseal dysplasia	HP:0100255
7040	TGFB1	Pulmonary fibrosis	HP:0002206
7040	TGFB1	Cortical thickening of long bone diaphyses	HP:0005791
7040	TGFB1	Hypoplasia of the corpus callosum	HP:0002079
7040	TGFB1	Recurrent infections	HP:0002719
7040	TGFB1	Delayed myelination	HP:0012448
7040	TGFB1	Immunodeficiency	HP:0002721
7040	TGFB1	Limb pain	HP:0009763
7040	TGFB1	Juvenile onset	HP:0003621
7040	TGFB1	Hyperostosis	HP:0100774
7040	TGFB1	Feeding difficulties in infancy	HP:0008872
7040	TGFB1	Genu valgum	HP:0002857
7040	TGFB1	Muscle weakness	HP:0001324
7040	TGFB1	Poor appetite	HP:0004396
7040	TGFB1	Delayed eruption of teeth	HP:0000684
7040	TGFB1	Reduced subcutaneous adipose tissue	HP:0003758
7040	TGFB1	Mandibular prognathia	HP:0000303
7040	TGFB1	Abnormality of tibia morphology	HP:0002992
7040	TGFB1	Abnormality of the ulna	HP:0002997
7040	TGFB1	Biliary cirrhosis	HP:0002613
7040	TGFB1	Delayed puberty	HP:0000823
7040	TGFB1	Easy fatigability	HP:0003388
7040	TGFB1	Hepatomegaly	HP:0002240
7040	TGFB1	Exocrine pancreatic insufficiency	HP:0001738
7040	TGFB1	Abnormal facial shape	HP:0001999
7040	TGFB1	Splenomegaly	HP:0001744
7040	TGFB1	Waddling gait	HP:0002515
7040	TGFB1	Abnormality of pelvic girdle bone morphology	HP:0002644
7040	TGFB1	Frontal bossing	HP:0002007
7040	TGFB1	Craniofacial osteosclerosis	HP:0005464
7040	TGFB1	Decreased antibody level in blood	HP:0004313
7040	TGFB1	Hypsarrhythmia	HP:0002521
7040	TGFB1	Scoliosis	HP:0002650
7040	TGFB1	Diaphyseal sclerosis	HP:0003034
7040	TGFB1	Leukopenia	HP:0001882
7040	TGFB1	Bone pain	HP:0002653
7040	TGFB1	Limitation of joint mobility	HP:0001376
7040	TGFB1	Lower limb pain	HP:0012514
7040	TGFB1	Seizures	HP:0001250
7040	TGFB1	Pes planus	HP:0001763
7040	TGFB1	Ataxia	HP:0001251
7040	TGFB1	Aplasia/Hypoplasia of the radius	HP:0006501
7040	TGFB1	Cachexia	HP:0004326
7040	TGFB1	Hypertrophic cardiomyopathy	HP:0001639
7040	TGFB1	Malabsorption	HP:0002024
7040	TGFB1	Hyperlordosis	HP:0003307
7040	TGFB1	Hearing impairment	HP:0000365
7040	TGFB1	Elevated erythrocyte sedimentation rate	HP:0003565
7040	TGFB1	Anemia	HP:0001903
7040	TGFB1	Global developmental delay	HP:0001263
7040	TGFB1	Coxa valga	HP:0002673
7040	TGFB1	Glaucoma	HP:0000501
7040	TGFB1	Abnormality of the humerus	HP:0003063
7040	TGFB1	Anorexia	HP:0002039
7040	TGFB1	Neurological speech impairment	HP:0002167
7040	TGFB1	Kyphosis	HP:0002808
7040	TGFB1	Sensory neuropathy	HP:0000763
7040	TGFB1	Slender build	HP:0001533
7040	TGFB1	Optic nerve compression	HP:0007807
23424	TDRD7	Cataract	HP:0000518
23424	TDRD7	Autosomal recessive inheritance	HP:0000007
7042	TGFB2	Carotid artery dilatation	HP:0012163
7042	TGFB2	Autosomal dominant inheritance	HP:0000006
7042	TGFB2	Chest pain	HP:0100749
7042	TGFB2	Coronary artery atherosclerosis	HP:0001677
7042	TGFB2	Abnormality iris morphology	HP:0000525
7042	TGFB2	Arachnodactyly	HP:0001166
7042	TGFB2	High, narrow palate	HP:0002705
7042	TGFB2	Retrognathia	HP:0000278
7042	TGFB2	Transient ischemic attack	HP:0002326
7042	TGFB2	Inguinal hernia	HP:0000023
7042	TGFB2	Eosinophilic infiltration of the esophagus	HP:0410151
7042	TGFB2	Dural ectasia	HP:0100775
7042	TGFB2	Left ventricular dysfunction	HP:0005162
7042	TGFB2	Emphysema	HP:0002097
7042	TGFB2	Hypertension	HP:0000822
7042	TGFB2	Aortic root aneurysm	HP:0002616
7042	TGFB2	Hemoptysis	HP:0002105
7042	TGFB2	Pneumothorax	HP:0002107
7042	TGFB2	Exertional dyspnea	HP:0002875
7042	TGFB2	Hypertelorism	HP:0000316
7042	TGFB2	Joint hyperflexibility	HP:0005692
7042	TGFB2	Ascending aortic dissection	HP:0004933
7042	TGFB2	Cutis marmorata	HP:0000965
7042	TGFB2	Dilatation of the cerebral artery	HP:0004944
7042	TGFB2	Mucoid extracellular matrix accumulation	HP:0200146
7042	TGFB2	Bruising susceptibility	HP:0000978
7042	TGFB2	Descending aortic dissection	HP:0012499
7042	TGFB2	Peripheral arterial stenosis	HP:0004950
7042	TGFB2	Aortic dissection	HP:0002647
7042	TGFB2	High palate	HP:0000218
7042	TGFB2	Scoliosis	HP:0002650
7042	TGFB2	Subarachnoid hemorrhage	HP:0002138
7042	TGFB2	Paroxysmal dyspnea	HP:0012763
7042	TGFB2	Ischemic stroke	HP:0002140
7042	TGFB2	Descending thoracic aorta aneurysm	HP:0004959
7042	TGFB2	Talipes equinovarus	HP:0001762
7042	TGFB2	Tall stature	HP:0000098
7042	TGFB2	Mitral valve prolapse	HP:0001634
7042	TGFB2	Hypovolemia	HP:0011106
7042	TGFB2	Pes planus	HP:0001763
7042	TGFB2	Spondylolisthesis	HP:0003302
7042	TGFB2	Cardiomegaly	HP:0001640
7042	TGFB2	Patent ductus arteriosus	HP:0001643
7042	TGFB2	Downslanted palpebral fissures	HP:0000494
7042	TGFB2	Bicuspid aortic valve	HP:0001647
7042	TGFB2	Abdominal aortic aneurysm	HP:0005112
7042	TGFB2	Aortic regurgitation	HP:0001659
7042	TGFB2	Arterial tortuosity	HP:0005116
7042	TGFB2	Abnormality of the sternum	HP:0000766
7042	TGFB2	Prenatal maternal abnormality	HP:0002686
23426	GRIP1	Umbilical hernia	HP:0001537
23426	GRIP1	Multicystic kidney dysplasia	HP:0000003
23426	GRIP1	Omphalocele	HP:0001539
23426	GRIP1	Midline nasal groove	HP:0004112
23426	GRIP1	Anophthalmia	HP:0000528
23426	GRIP1	Vaginal atresia	HP:0000148
23426	GRIP1	Conductive hearing impairment	HP:0000405
23426	GRIP1	Cryptorchidism	HP:0000028
23426	GRIP1	Atresia of the external auditory canal	HP:0000413
23426	GRIP1	Hypoplasia of penis	HP:0008736
23426	GRIP1	Depressed nasal bridge	HP:0005280
23426	GRIP1	Encephalocele	HP:0002084
23426	GRIP1	Dental crowding	HP:0000678
23426	GRIP1	Short toe	HP:0001831
23426	GRIP1	Pulmonary hypoplasia	HP:0002089
23426	GRIP1	Myelomeningocele	HP:0002475
23426	GRIP1	Bicornuate uterus	HP:0000813
23426	GRIP1	Ectopic anus	HP:0004397
23426	GRIP1	Scrotal hypoplasia	HP:0000046
23426	GRIP1	Underdeveloped nasal alae	HP:0000430
23426	GRIP1	Wide nasal bridge	HP:0000431
23426	GRIP1	Hypospadias	HP:0000047
23426	GRIP1	Dental malocclusion	HP:0000689
23426	GRIP1	Abnormal lung lobation	HP:0002101
23426	GRIP1	Cutaneous syndactyly	HP:0012725
23426	GRIP1	Microphthalmia	HP:0000568
23426	GRIP1	Bifid tongue	HP:0010297
23426	GRIP1	Malformed lacrimal duct	HP:0007993
23426	GRIP1	Hypertelorism	HP:0000316
23426	GRIP1	Convex nasal ridge	HP:0000444
23426	GRIP1	Wide nose	HP:0000445
23426	GRIP1	Ambiguous genitalia	HP:0000062
23426	GRIP1	Laryngeal stenosis	HP:0001602
23426	GRIP1	Urethral atresia	HP:0000068
23426	GRIP1	Subglottic stenosis	HP:0001607
23426	GRIP1	Cleft upper lip	HP:0000204
23426	GRIP1	Wide intermamillary distance	HP:0006610
23426	GRIP1	Calvarial skull defect	HP:0001362
23426	GRIP1	Finger syndactyly	HP:0006101
23426	GRIP1	Abnormality of cardiovascular system morphology	HP:0030680
23426	GRIP1	Tracheal stenosis	HP:0002777
23426	GRIP1	Renal hypoplasia	HP:0000089
23426	GRIP1	Female pseudohermaphroditism	HP:0010458
23426	GRIP1	High palate	HP:0000218
23426	GRIP1	Vertebral segmentation defect	HP:0003422
23426	GRIP1	Abnormal hair pattern	HP:0010720
23426	GRIP1	Intellectual disability	HP:0001249
23426	GRIP1	Cryptophthalmos	HP:0001126
23426	GRIP1	Anal atresia	HP:0002023
23426	GRIP1	Anal stenosis	HP:0002025
23426	GRIP1	Toe syndactyly	HP:0001770
23426	GRIP1	Blindness	HP:0000618
23426	GRIP1	Wide pubic symphysis	HP:0003183
23426	GRIP1	Low-set, posteriorly rotated ears	HP:0000368
23426	GRIP1	Death in infancy	HP:0001522
23426	GRIP1	Lacrimal duct aplasia	HP:0007925
23426	GRIP1	Cleft ala nasi	HP:0003191
23426	GRIP1	Microcephaly	HP:0000252
23426	GRIP1	External ear malformation	HP:0008572
7043	TGFB3	Pectus carinatum	HP:0000768
7043	TGFB3	Carotid artery dilatation	HP:0012163
7043	TGFB3	Autosomal dominant inheritance	HP:0000006
7043	TGFB3	Proptosis	HP:0000520
7043	TGFB3	Chest pain	HP:0100749
7043	TGFB3	Dolichocephaly	HP:0000268
7043	TGFB3	Coronary artery atherosclerosis	HP:0001677
7043	TGFB3	Abnormality iris morphology	HP:0000525
7043	TGFB3	Arachnodactyly	HP:0001166
7043	TGFB3	Right ventricular cardiomyopathy	HP:0011663
7043	TGFB3	Heterogeneous	HP:0001425
7043	TGFB3	High, narrow palate	HP:0002705
7043	TGFB3	Long face	HP:0000276
7043	TGFB3	Transient ischemic attack	HP:0002326
7043	TGFB3	Retrognathia	HP:0000278
7043	TGFB3	Cervical spine instability	HP:0010646
7043	TGFB3	Inguinal hernia	HP:0000023
7043	TGFB3	Midface retrusion	HP:0011800
7043	TGFB3	Broad face	HP:0000283
7043	TGFB3	Eosinophilic infiltration of the esophagus	HP:0410151
7043	TGFB3	Dural ectasia	HP:0100775
7043	TGFB3	Neonatal hypotonia	HP:0001319
7043	TGFB3	Bilateral coxa valga	HP:0010665
7043	TGFB3	Left ventricular dysfunction	HP:0005162
7043	TGFB3	Cleft palate	HP:0000175
7043	TGFB3	Hypertension	HP:0000822
7043	TGFB3	Aortic root aneurysm	HP:0002616
7043	TGFB3	Hemoptysis	HP:0002105
7043	TGFB3	Pneumothorax	HP:0002107
7043	TGFB3	Exertional dyspnea	HP:0002875
7043	TGFB3	Hypertelorism	HP:0000316
7043	TGFB3	Cerebral hemorrhage	HP:0001342
7043	TGFB3	Smooth philtrum	HP:0000319
7043	TGFB3	Kyphoscoliosis	HP:0002751
7043	TGFB3	Bifid uvula	HP:0000193
7043	TGFB3	Exotropia	HP:0000577
7043	TGFB3	Ascending aortic dissection	HP:0004933
7043	TGFB3	Cutis marmorata	HP:0000965
7043	TGFB3	Osteoarthritis	HP:0002758
7043	TGFB3	Dilatation of the cerebral artery	HP:0004944
7043	TGFB3	Blue sclerae	HP:0000592
7043	TGFB3	Mucoid extracellular matrix accumulation	HP:0200146
7043	TGFB3	Bruising susceptibility	HP:0000978
7043	TGFB3	Descending aortic dissection	HP:0012499
7043	TGFB3	Ventricular arrhythmia	HP:0004308
7043	TGFB3	Peripheral arterial stenosis	HP:0004950
7043	TGFB3	Subarachnoid hemorrhage	HP:0002138
7043	TGFB3	Scoliosis	HP:0002650
7043	TGFB3	High palate	HP:0000218
7043	TGFB3	Paroxysmal dyspnea	HP:0012763
7043	TGFB3	Ischemic stroke	HP:0002140
7043	TGFB3	Ventricular septal defect	HP:0001629
7043	TGFB3	Descending thoracic aorta aneurysm	HP:0004959
7043	TGFB3	Hypovolemia	HP:0011106
7043	TGFB3	Tall stature	HP:0000098
7043	TGFB3	Talipes equinovarus	HP:0001762
7043	TGFB3	Short stature	HP:0004322
7043	TGFB3	Pes planus	HP:0001763
7043	TGFB3	Increased arm span	HP:0012771
7043	TGFB3	Spondylolisthesis	HP:0003302
7043	TGFB3	Joint hypermobility	HP:0001382
7043	TGFB3	Cardiomegaly	HP:0001640
7043	TGFB3	Patent ductus arteriosus	HP:0001643
7043	TGFB3	Sudden cardiac death	HP:0001645
7043	TGFB3	Downslanted palpebral fissures	HP:0000494
7043	TGFB3	Small for gestational age	HP:0001518
7043	TGFB3	Bicuspid aortic valve	HP:0001647
7043	TGFB3	Hyporeflexia	HP:0001265
7043	TGFB3	Hiatus hernia	HP:0002036
7043	TGFB3	Mitral regurgitation	HP:0001653
7043	TGFB3	Motor delay	HP:0001270
7043	TGFB3	Patent foramen ovale	HP:0001655
7043	TGFB3	Abdominal aortic aneurysm	HP:0005112
7043	TGFB3	Brachycephaly	HP:0000248
7043	TGFB3	Aortic regurgitation	HP:0001659
7043	TGFB3	Ptosis	HP:0000508
7043	TGFB3	Prenatal maternal abnormality	HP:0002686
7043	TGFB3	Abnormality of the sternum	HP:0000766
7043	TGFB3	Pectus excavatum	HP:0000767
7043	TGFB3	Decreased muscle mass	HP:0003199
64388	GREM2	Autosomal dominant inheritance	HP:0000006
64388	GREM2	Selective tooth agenesis	HP:0001592
7045	TGFBI	Punctate corneal dystrophy	HP:0007809
7045	TGFBI	Photophobia	HP:0000613
7045	TGFBI	Autosomal dominant inheritance	HP:0000006
7045	TGFBI	Cataract	HP:0000518
7045	TGFBI	Strabismus	HP:0000486
7045	TGFBI	Map-dot-fingerprint corneal dystrophy	HP:0007690
7045	TGFBI	Juvenile epithelial corneal dystrophy	HP:0007755
7045	TGFBI	Corneal dystrophy	HP:0001131
7045	TGFBI	Recurrent corneal erosions	HP:0000495
7045	TGFBI	Corneal scarring	HP:0000559
7045	TGFBI	Reduced visual acuity	HP:0007663
7045	TGFBI	Opacification of the corneal stroma	HP:0007759
7045	TGFBI	Progressive visual loss	HP:0000529
7045	TGFBI	Nodular corneal dystrophy	HP:0007827
7045	TGFBI	Corneal erosion	HP:0200020
7045	TGFBI	Visual impairment	HP:0000505
7045	TGFBI	Granular corneal dystrophy	HP:0007802
7045	TGFBI	Lattice corneal dystrophy	HP:0001149
7046	TGFBR1	Pectus carinatum	HP:0000768
7046	TGFBR1	Joint contracture of the hand	HP:0009473
7046	TGFBR1	Carotid artery dilatation	HP:0012163
7046	TGFBR1	Arnold-Chiari malformation	HP:0002308
7046	TGFBR1	Autosomal dominant inheritance	HP:0000006
7046	TGFBR1	Proptosis	HP:0000520
7046	TGFBR1	Postaxial hand polydactyly	HP:0001162
7046	TGFBR1	Camptodactyly of finger	HP:0100490
7046	TGFBR1	Chest pain	HP:0100749
7046	TGFBR1	Coronary artery atherosclerosis	HP:0001677
7046	TGFBR1	Abnormality iris morphology	HP:0000525
7046	TGFBR1	Arachnodactyly	HP:0001166
7046	TGFBR1	Malar flattening	HP:0000272
7046	TGFBR1	Heterogeneous	HP:0001425
7046	TGFBR1	High, narrow palate	HP:0002705
7046	TGFBR1	Retrognathia	HP:0000278
7046	TGFBR1	Transient ischemic attack	HP:0002326
7046	TGFBR1	Inguinal hernia	HP:0000023
7046	TGFBR1	Dermal translucency	HP:0010648
7046	TGFBR1	Cardiac arrest	HP:0001695
7046	TGFBR1	Eosinophilic infiltration of the esophagus	HP:0410151
7046	TGFBR1	Dural ectasia	HP:0100775
7046	TGFBR1	Striae distensae	HP:0001065
7046	TGFBR1	Left ventricular dysfunction	HP:0005162
7046	TGFBR1	Arterial dissection	HP:0005294
7046	TGFBR1	Cleft palate	HP:0000175
7046	TGFBR1	Hypertension	HP:0000822
7046	TGFBR1	Aortic root aneurysm	HP:0002616
7046	TGFBR1	Hemoptysis	HP:0002105
7046	TGFBR1	Pneumothorax	HP:0002107
7046	TGFBR1	Exertional dyspnea	HP:0002875
7046	TGFBR1	Hypertelorism	HP:0000316
7046	TGFBR1	Joint hyperflexibility	HP:0005692
7046	TGFBR1	Bicuspid pulmonary valve	HP:0005182
7046	TGFBR1	Exotropia	HP:0000577
7046	TGFBR1	Bifid uvula	HP:0000193
7046	TGFBR1	Thin skin	HP:0000963
7046	TGFBR1	Ascending aortic dissection	HP:0004933
7046	TGFBR1	Cutis marmorata	HP:0000965
7046	TGFBR1	Pulmonary artery aneurysm	HP:0004937
7046	TGFBR1	Oral cleft	HP:0000202
7046	TGFBR1	Aortic aneurysm	HP:0004942
7046	TGFBR1	Dilatation of the cerebral artery	HP:0004944
7046	TGFBR1	Blue sclerae	HP:0000592
7046	TGFBR1	Soft skin	HP:0000977
7046	TGFBR1	Mucoid extracellular matrix accumulation	HP:0200146
7046	TGFBR1	Bruising susceptibility	HP:0000978
7046	TGFBR1	Craniosynostosis	HP:0001363
7046	TGFBR1	Descending aortic dissection	HP:0012499
7046	TGFBR1	Peripheral arterial stenosis	HP:0004950
7046	TGFBR1	Aortic dissection	HP:0002647
7046	TGFBR1	Scoliosis	HP:0002650
7046	TGFBR1	High palate	HP:0000218
7046	TGFBR1	Subarachnoid hemorrhage	HP:0002138
7046	TGFBR1	Generalized arterial tortuosity	HP:0004955
7046	TGFBR1	Micrognathia	HP:0000347
7046	TGFBR1	Atypical scarring of skin	HP:0000987
7046	TGFBR1	Paroxysmal dyspnea	HP:0012763
7046	TGFBR1	Ischemic stroke	HP:0002140
7046	TGFBR1	Joint dislocation	HP:0001373
7046	TGFBR1	Atrial septal defect	HP:0001631
7046	TGFBR1	Descending thoracic aorta aneurysm	HP:0004959
7046	TGFBR1	Camptodactyly	HP:0012385
7046	TGFBR1	Intellectual disability	HP:0001249
7046	TGFBR1	Talipes equinovarus	HP:0001762
7046	TGFBR1	Mitral valve prolapse	HP:0001634
7046	TGFBR1	Tall stature	HP:0000098
7046	TGFBR1	Hypovolemia	HP:0011106
7046	TGFBR1	Pes planus	HP:0001763
7046	TGFBR1	Cardiomegaly	HP:0001640
7046	TGFBR1	Ascending tubular aorta aneurysm	HP:0004970
7046	TGFBR1	Patent ductus arteriosus	HP:0001643
7046	TGFBR1	Joint laxity	HP:0001388
7046	TGFBR1	Hydrocephalus	HP:0000238
7046	TGFBR1	Global developmental delay	HP:0001263
7046	TGFBR1	Disproportionate tall stature	HP:0001519
7046	TGFBR1	Bicuspid aortic valve	HP:0001647
7046	TGFBR1	Uterine rupture	HP:0100718
7046	TGFBR1	Abdominal aortic aneurysm	HP:0005112
7046	TGFBR1	Aortic regurgitation	HP:0001659
7046	TGFBR1	Arterial tortuosity	HP:0005116
7046	TGFBR1	Abnormality of the sternum	HP:0000766
7046	TGFBR1	Prenatal maternal abnormality	HP:0002686
7046	TGFBR1	Pectus excavatum	HP:0000767
23431	AP4E1	Genu recurvatum	HP:0002816
23431	AP4E1	Drooling	HP:0002307
23431	AP4E1	Autosomal dominant inheritance	HP:0000006
23431	AP4E1	Amblyopia	HP:0000646
23431	AP4E1	Autosomal recessive inheritance	HP:0000007
23431	AP4E1	Prominent antihelix	HP:0000395
23431	AP4E1	Narrow face	HP:0000275
23431	AP4E1	Coarse facial features	HP:0000280
23431	AP4E1	Wide mouth	HP:0000154
23431	AP4E1	Bulbous nose	HP:0000414
23431	AP4E1	Overweight	HP:0025502
23431	AP4E1	Babinski sign	HP:0003487
23431	AP4E1	Hypoplasia of the corpus callosum	HP:0002079
23431	AP4E1	Spastic dysarthria	HP:0002464
23431	AP4E1	Poor speech	HP:0002465
23431	AP4E1	Neonatal hypotonia	HP:0001319
23431	AP4E1	Facial hypotonia	HP:0000297
23431	AP4E1	Wide nasal bridge	HP:0000431
23431	AP4E1	Pointed chin	HP:0000307
23431	AP4E1	Difficulty walking	HP:0002355
23431	AP4E1	Everted upper lip vermilion	HP:0010803
23431	AP4E1	Dystonia	HP:0001332
23431	AP4E1	Short philtrum	HP:0000322
23431	AP4E1	Hyperreflexia	HP:0001347
23431	AP4E1	Ventriculomegaly	HP:0002119
23431	AP4E1	Cerebral cortical atrophy	HP:0002120
23431	AP4E1	Abnormality of the voice	HP:0001608
23431	AP4E1	Generalized joint laxity	HP:0002761
23431	AP4E1	Spastic tetraplegia	HP:0002510
23431	AP4E1	Waddling gait	HP:0002515
23431	AP4E1	Narrow forehead	HP:0000341
23431	AP4E1	Abnormality of the periventricular white matter	HP:0002518
23431	AP4E1	High palate	HP:0000218
23431	AP4E1	Flexion contracture	HP:0001371
23431	AP4E1	Stereotypy	HP:0000733
23431	AP4E1	Seizures	HP:0001250
23431	AP4E1	Talipes equinovarus	HP:0001762
23431	AP4E1	Short stature	HP:0004322
23431	AP4E1	Pes planus	HP:0001763
23431	AP4E1	Shyness	HP:0100962
23431	AP4E1	Strabismus	HP:0000486
23431	AP4E1	Acetabular dysplasia	HP:0008807
23431	AP4E1	Spastic paraplegia	HP:0001258
23431	AP4E1	Progressive spastic paraplegia	HP:0007020
23431	AP4E1	Downslanted palpebral fissures	HP:0000494
23431	AP4E1	Global developmental delay	HP:0001263
23431	AP4E1	Intellectual disability, severe	HP:0010864
23431	AP4E1	Long nose	HP:0003189
23431	AP4E1	Cerebellar atrophy	HP:0001272
23431	AP4E1	Congenital onset	HP:0003577
23431	AP4E1	Microcephaly	HP:0000252
23431	AP4E1	Decreased muscle mass	HP:0003199
23431	AP4E1	Nystagmus	HP:0000639
7048	TGFBR2	Pectus carinatum	HP:0000768
7048	TGFBR2	Umbilical hernia	HP:0001537
7048	TGFBR2	Joint contracture of the hand	HP:0009473
7048	TGFBR2	Arnold-Chiari malformation	HP:0002308
7048	TGFBR2	Death in early adulthood	HP:0100613
7048	TGFBR2	Autosomal dominant inheritance	HP:0000006
7048	TGFBR2	Ovarian neoplasm	HP:0100615
7048	TGFBR2	Proptosis	HP:0000520
7048	TGFBR2	Gait disturbance	HP:0001288
7048	TGFBR2	Abnormality iris morphology	HP:0000525
7048	TGFBR2	Malar flattening	HP:0000272
7048	TGFBR2	Transient ischemic attack	HP:0002326
7048	TGFBR2	Retrognathia	HP:0000278
7048	TGFBR2	Hemiplegia/hemiparesis	HP:0004374
7048	TGFBR2	Inguinal hernia	HP:0000023
7048	TGFBR2	Agnosia	HP:0010524
7048	TGFBR2	Migraine	HP:0002076
7048	TGFBR2	Dysgraphia	HP:0010526
7048	TGFBR2	Weight loss	HP:0001824
7048	TGFBR2	Eosinophilic infiltration of the esophagus	HP:0410151
7048	TGFBR2	Urinary tract neoplasm	HP:0010786
7048	TGFBR2	Striae distensae	HP:0001065
7048	TGFBR2	Left ventricular dysfunction	HP:0005162
7048	TGFBR2	Squamous cell carcinoma	HP:0002860
7048	TGFBR2	Memory impairment	HP:0002354
7048	TGFBR2	Dyskinesia	HP:0100660
7048	TGFBR2	Hypertension	HP:0000822
7048	TGFBR2	Aortic root aneurysm	HP:0002616
7048	TGFBR2	Hemoptysis	HP:0002105
7048	TGFBR2	Pneumothorax	HP:0002107
7048	TGFBR2	Exertional dyspnea	HP:0002875
7048	TGFBR2	Hereditary nonpolyposis colorectal carcinoma	HP:0006716
7048	TGFBR2	Hypertelorism	HP:0000316
7048	TGFBR2	Joint hyperflexibility	HP:0005692
7048	TGFBR2	Spontaneous pneumothorax	HP:0002108
7048	TGFBR2	Bicuspid pulmonary valve	HP:0005182
7048	TGFBR2	Exotropia	HP:0000577
7048	TGFBR2	Ascending aortic dissection	HP:0004933
7048	TGFBR2	Pancreatic adenocarcinoma	HP:0006725
7048	TGFBR2	Abnormality of the voice	HP:0001608
7048	TGFBR2	Clinodactyly of the 5th toe	HP:0001864
7048	TGFBR2	Developmental regression	HP:0002376
7048	TGFBR2	Pulmonary artery aneurysm	HP:0004937
7048	TGFBR2	Paresthesia	HP:0003401
7048	TGFBR2	Intestinal polyposis	HP:0200008
7048	TGFBR2	Pituitary adenoma	HP:0002893
7048	TGFBR2	Aortic aneurysm	HP:0004942
7048	TGFBR2	Blue sclerae	HP:0000592
7048	TGFBR2	Dilatation of the cerebral artery	HP:0004944
7048	TGFBR2	Craniosynostosis	HP:0001363
7048	TGFBR2	Peripheral arterial stenosis	HP:0004950
7048	TGFBR2	Aortic dissection	HP:0002647
7048	TGFBR2	Abnormal pyramidal sign	HP:0007256
7048	TGFBR2	Scoliosis	HP:0002650
7048	TGFBR2	Subarachnoid hemorrhage	HP:0002138
7048	TGFBR2	Fatigue	HP:0012378
7048	TGFBR2	Micrognathia	HP:0000347
7048	TGFBR2	Generalized arterial tortuosity	HP:0004955
7048	TGFBR2	Flexion contracture	HP:0001371
7048	TGFBR2	Ischemic stroke	HP:0002140
7048	TGFBR2	Joint dislocation	HP:0001373
7048	TGFBR2	Descending thoracic aorta aneurysm	HP:0004959
7048	TGFBR2	Atrial septal defect	HP:0001631
7048	TGFBR2	Camptodactyly	HP:0012385
7048	TGFBR2	Tall stature	HP:0000098
7048	TGFBR2	Hypovolemia	HP:0011106
7048	TGFBR2	Mitral valve prolapse	HP:0001634
7048	TGFBR2	Visual field defect	HP:0001123
7048	TGFBR2	Cardiomegaly	HP:0001640
7048	TGFBR2	Ascending tubular aorta aneurysm	HP:0004970
7048	TGFBR2	Attention deficit hyperactivity disorder	HP:0007018
7048	TGFBR2	Patent ductus arteriosus	HP:0001643
7048	TGFBR2	Protrusio acetabuli	HP:0003179
7048	TGFBR2	Joint laxity	HP:0001388
7048	TGFBR2	Uterine rupture	HP:0100718
7048	TGFBR2	Bicuspid aortic valve	HP:0001647
7048	TGFBR2	Basal cell carcinoma	HP:0002671
7048	TGFBR2	Hepatocellular carcinoma	HP:0001402
7048	TGFBR2	Aortic regurgitation	HP:0001659
7048	TGFBR2	Prenatal maternal abnormality	HP:0002686
7048	TGFBR2	Neoplasm of the skeletal system	HP:0010622
7048	TGFBR2	Carotid artery dilatation	HP:0012163
7048	TGFBR2	Brachydactyly	HP:0001156
7048	TGFBR2	Neoplasm of the rectum	HP:0100743
7048	TGFBR2	Syndactyly	HP:0001159
7048	TGFBR2	Camptodactyly of finger	HP:0100490
7048	TGFBR2	Chest pain	HP:0100749
7048	TGFBR2	Coronary artery atherosclerosis	HP:0001677
7048	TGFBR2	Arachnodactyly	HP:0001166
7048	TGFBR2	Glioblastoma multiforme	HP:0012174
7048	TGFBR2	High, narrow palate	HP:0002705
7048	TGFBR2	Heterogeneous	HP:0001425
7048	TGFBR2	Somatic mutation	HP:0001428
7048	TGFBR2	Dermal translucency	HP:0010648
7048	TGFBR2	Lymphadenopathy	HP:0002716
7048	TGFBR2	Cardiac arrest	HP:0001695
7048	TGFBR2	Postaxial polydactyly	HP:0100259
7048	TGFBR2	Dural ectasia	HP:0100775
7048	TGFBR2	Feeding difficulties in infancy	HP:0008872
7048	TGFBR2	Osteoporosis	HP:0000939
7048	TGFBR2	Arterial dissection	HP:0005294
7048	TGFBR2	Absent distal phalanges	HP:0005807
7048	TGFBR2	Cleft palate	HP:0000175
7048	TGFBR2	Colon cancer	HP:0003003
7048	TGFBR2	Neuroblastoma	HP:0003006
7048	TGFBR2	Neoplasm of the thyroid gland	HP:0100031
7048	TGFBR2	Cough	HP:0012735
7048	TGFBR2	Gastrointestinal hemorrhage	HP:0002239
7048	TGFBR2	Bifid uvula	HP:0000193
7048	TGFBR2	Thin skin	HP:0000963
7048	TGFBR2	Esophageal carcinoma	HP:0011459
7048	TGFBR2	Cutis marmorata	HP:0000965
7048	TGFBR2	Oral cleft	HP:0000202
7048	TGFBR2	Polydactyly	HP:0010442
7048	TGFBR2	Depressivity	HP:0000716
7048	TGFBR2	Mucoid extracellular matrix accumulation	HP:0200146
7048	TGFBR2	Bruising susceptibility	HP:0000978
7048	TGFBR2	Descending aortic dissection	HP:0012499
7048	TGFBR2	Increased intracranial pressure	HP:0002516
7048	TGFBR2	High palate	HP:0000218
7048	TGFBR2	Cardiac diverticulum	HP:0100571
7048	TGFBR2	Atypical scarring of skin	HP:0000987
7048	TGFBR2	Paroxysmal dyspnea	HP:0012763
7048	TGFBR2	Intellectual disability	HP:0001249
7048	TGFBR2	Nausea and vomiting	HP:0002017
7048	TGFBR2	Irritability	HP:0000737
7048	TGFBR2	Amaurosis fugax	HP:0100576
7048	TGFBR2	Talipes equinovarus	HP:0001762
7048	TGFBR2	Hallucinations	HP:0000738
7048	TGFBR2	Seizures	HP:0001250
7048	TGFBR2	Benign neoplasm of the central nervous system	HP:0100835
7048	TGFBR2	Pes planus	HP:0001763
7048	TGFBR2	Anxiety	HP:0000739
7048	TGFBR2	Constipation	HP:0002019
7048	TGFBR2	Muscular hypotonia	HP:0001252
7048	TGFBR2	Spondylolisthesis	HP:0003302
7048	TGFBR2	Malabsorption	HP:0002024
7048	TGFBR2	Abdominal pain	HP:0002027
7048	TGFBR2	Dysarthria	HP:0001260
7048	TGFBR2	Hydrocephalus	HP:0000238
7048	TGFBR2	Disproportionate tall stature	HP:0001519
7048	TGFBR2	Global developmental delay	HP:0001263
7048	TGFBR2	Death in infancy	HP:0001522
7048	TGFBR2	Abdominal aortic aneurysm	HP:0005112
7048	TGFBR2	Arterial tortuosity	HP:0005116
7048	TGFBR2	Hypertonia	HP:0001276
7048	TGFBR2	Abnormality of the sternum	HP:0000766
7048	TGFBR2	Pectus excavatum	HP:0000767
23432	GPR161	Hypoplasia of penis	HP:0008736
23432	GPR161	Intellectual disability	HP:0001249
23432	GPR161	Seizures	HP:0001250
23432	GPR161	Short stature	HP:0004322
23432	GPR161	Adrenal hypoplasia	HP:0000835
23432	GPR161	Failure to thrive	HP:0001508
23432	GPR161	Diabetes insipidus	HP:0000873
23432	GPR161	Septo-optic dysplasia	HP:0100842
23432	GPR161	Ectopic posterior pituitary	HP:0011755
23432	GPR161	Global developmental delay	HP:0001263
23432	GPR161	Death in infancy	HP:0001522
23432	GPR161	Primary amenorrhea	HP:0000786
23432	GPR161	Hypothyroidism	HP:0000821
23432	GPR161	Hypoglycemia	HP:0001943
23432	GPR161	Delayed puberty	HP:0000823
23432	GPR161	Cryptorchidism	HP:0000028
80776	B9D2	Multicystic kidney dysplasia	HP:0000003
80776	B9D2	Cataract	HP:0000518
80776	B9D2	Sclerocornea	HP:0000647
80776	B9D2	Autosomal recessive inheritance	HP:0000007
80776	B9D2	Optic atrophy	HP:0000648
80776	B9D2	Postaxial hand polydactyly	HP:0001162
80776	B9D2	Anophthalmia	HP:0000528
80776	B9D2	Anencephaly	HP:0002323
80776	B9D2	Abnormal chorioretinal morphology	HP:0000532
80776	B9D2	Dandy-Walker malformation	HP:0001305
80776	B9D2	Preaxial hand polydactyly	HP:0001177
80776	B9D2	Oligohydramnios	HP:0001562
80776	B9D2	Cryptorchidism	HP:0000028
80776	B9D2	Epicanthus	HP:0000286
80776	B9D2	Situs inversus totalis	HP:0001696
80776	B9D2	Postaxial polydactyly	HP:0100259
80776	B9D2	Encephalocele	HP:0002084
80776	B9D2	Male pseudohermaphroditism	HP:0000037
80776	B9D2	Full cheeks	HP:0000293
80776	B9D2	Occipital encephalocele	HP:0002085
80776	B9D2	Postaxial foot polydactyly	HP:0001830
80776	B9D2	Cleft palate	HP:0000175
80776	B9D2	Hypospadias	HP:0000047
80776	B9D2	Cystic liver disease	HP:0006706
80776	B9D2	Congenital hepatic fibrosis	HP:0002612
80776	B9D2	Micropenis	HP:0000054
80776	B9D2	Aplasia/Hypoplasia of the tongue	HP:0010295
80776	B9D2	Microphthalmia	HP:0000568
80776	B9D2	Hypertelorism	HP:0000316
80776	B9D2	Sacral dimple	HP:0000960
80776	B9D2	Urethral atresia	HP:0000068
80776	B9D2	Ureteral duplication	HP:0000073
80776	B9D2	Pancreatic cysts	HP:0001737
80776	B9D2	Depressed nasal ridge	HP:0000457
80776	B9D2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
80776	B9D2	Asplenia	HP:0001746
80776	B9D2	Accessory spleen	HP:0001747
80776	B9D2	Sloping forehead	HP:0000340
80776	B9D2	Lobar holoprosencephaly	HP:0006870
80776	B9D2	Bowing of the long bones	HP:0006487
80776	B9D2	Micrognathia	HP:0000347
80776	B9D2	Talipes	HP:0001883
80776	B9D2	True hermaphroditism	HP:0010459
80776	B9D2	Furrowed tongue	HP:0000221
80776	B9D2	Narrow palpebral fissure	HP:0045025
80776	B9D2	Microcornea	HP:0000482
80776	B9D2	Seizures	HP:0001250
80776	B9D2	Renal cyst	HP:0000107
80776	B9D2	Hydrocephalus	HP:0000238
80776	B9D2	Low-set, posteriorly rotated ears	HP:0000368
80776	B9D2	Molar tooth sign on MRI	HP:0002419
80776	B9D2	Aplasia/Hypoplasia of the iris	HP:0008053
80776	B9D2	Microcephaly	HP:0000252
80776	B9D2	Ptosis	HP:0000508
80776	B9D2	Pancreatic fibrosis	HP:0100732
7049	TGFBR3	Seizures	HP:0001250
7049	TGFBR3	Visual field defect	HP:0001123
7049	TGFBR3	Encephalomalacia	HP:0040197
7049	TGFBR3	Abnormal circle of Willis morphology	HP:0012518
7049	TGFBR3	Cerebral berry aneurysm	HP:0007029
7049	TGFBR3	Hemiparesis	HP:0001269
7049	TGFBR3	Hypertension	HP:0000822
7049	TGFBR3	Transient ischemic attack	HP:0002326
7049	TGFBR3	Oculomotor nerve palsy	HP:0012246
7049	TGFBR3	Aortic dissection	HP:0002647
7049	TGFBR3	Aortic root aneurysm	HP:0002616
7049	TGFBR3	Subarachnoid hemorrhage	HP:0002138
7049	TGFBR3	Abnormality of brainstem morphology	HP:0002363
7049	TGFBR3	Atherosclerosis	HP:0002621
7050	TGIF1	Short philtrum	HP:0000322
7050	TGIF1	EMG: myopathic abnormalities	HP:0003458
7050	TGIF1	Hemangioma	HP:0001028
7050	TGIF1	Choanal atresia	HP:0000453
7050	TGIF1	Autosomal dominant inheritance	HP:0000006
7050	TGIF1	Duodenal atresia	HP:0002247
7050	TGIF1	Maternal diabetes	HP:0009800
7050	TGIF1	Semilobar holoprosencephaly	HP:0002507
7050	TGIF1	Anteverted nares	HP:0000463
7050	TGIF1	Holoprosencephaly	HP:0001360
7050	TGIF1	Midnasal stenosis	HP:0010644
7050	TGIF1	Premature birth	HP:0001622
7050	TGIF1	Absent nasal septal cartilage	HP:0005273
7050	TGIF1	Hypotelorism	HP:0000601
7050	TGIF1	Scoliosis	HP:0002650
7050	TGIF1	Depressed nasal bridge	HP:0005280
7050	TGIF1	Hypoplasia of penis	HP:0008736
7050	TGIF1	Median cleft lip	HP:0000161
7050	TGIF1	Intellectual disability	HP:0001249
7050	TGIF1	Short stature	HP:0004322
7050	TGIF1	Seizures	HP:0001250
7050	TGIF1	Iris coloboma	HP:0000612
7050	TGIF1	Tetralogy of Fallot	HP:0001636
7050	TGIF1	Strabismus	HP:0000486
7050	TGIF1	Panhypopituitarism	HP:0000871
7050	TGIF1	Intrauterine growth retardation	HP:0001511
7050	TGIF1	Renal agenesis	HP:0000104
7050	TGIF1	Single median maxillary incisor	HP:0006315
7050	TGIF1	Cleft palate	HP:0000175
7050	TGIF1	Asthma	HP:0002099
7050	TGIF1	Tented upper lip vermilion	HP:0010804
7050	TGIF1	Depressed nasal tip	HP:0000437
7050	TGIF1	Median cleft lip and palate	HP:0008501
7050	TGIF1	Hypothyroidism	HP:0000821
7050	TGIF1	Cyclopia	HP:0009914
7050	TGIF1	Agenesis of corpus callosum	HP:0001274
7050	TGIF1	Ptosis	HP:0000508
7050	TGIF1	Short nose	HP:0003196
7050	TGIF1	Microcephaly	HP:0000252
7050	TGIF1	Narrow nasal bridge	HP:0000446
7050	TGIF1	Ambiguous genitalia	HP:0000062
7051	TGM1	Ichthyosis	HP:0008064
7051	TGM1	Hyperkeratosis	HP:0000962
7051	TGM1	Epidermal acanthosis	HP:0025092
7051	TGM1	Chronic otitis media	HP:0000389
7051	TGM1	Hypohidrosis	HP:0000966
7051	TGM1	Lack of skin elasticity	HP:0100679
7051	TGM1	Sparse hair	HP:0008070
7051	TGM1	Congenital ichthyosiform erythroderma	HP:0007431
7051	TGM1	Autosomal recessive inheritance	HP:0000007
7051	TGM1	Sepsis	HP:0100806
7051	TGM1	Parakeratosis	HP:0001036
7051	TGM1	Palmoplantar hyperkeratosis	HP:0000972
7051	TGM1	Ectropion	HP:0000656
7051	TGM1	Renal insufficiency	HP:0000083
7051	TGM1	Nail dystrophy	HP:0008404
7051	TGM1	Palmoplantar keratoderma	HP:0000982
7051	TGM1	Corneal erosion	HP:0200020
7051	TGM1	Gangrene	HP:0100758
7051	TGM1	Dehydration	HP:0001944
7051	TGM1	Flexion contracture	HP:0001371
7051	TGM1	Pruritus	HP:0000989
7051	TGM1	Recurrent respiratory infections	HP:0002205
7051	TGM1	Abnormality of the helix	HP:0011039
7051	TGM1	Limitation of joint mobility	HP:0001376
7051	TGM1	Short stature	HP:0004322
7051	TGM1	Failure to thrive	HP:0001508
7051	TGM1	Abnormality of the dentition	HP:0000164
7051	TGM1	Everted lower lip vermilion	HP:0000232
7051	TGM1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
7051	TGM1	Keratitis	HP:0000491
7051	TGM1	Hearing impairment	HP:0000365
7051	TGM1	Hypotrichosis	HP:0001006
7051	TGM1	Nail dysplasia	HP:0002164
7051	TGM1	Erythroderma	HP:0001019
7051	TGM1	Alopecia	HP:0001596
7051	TGM1	Abnormality of the nail	HP:0001597
7051	TGM1	Desquamation of skin soon after birth	HP:0007549
7051	TGM1	Dry skin	HP:0000958
7051	TGM1	Cognitive impairment	HP:0100543
23435	TARDBP	Skeletal muscle atrophy	HP:0003202
23435	TARDBP	Abnormal mitochondrial morphology	HP:0008322
23435	TARDBP	Bulbar palsy	HP:0001283
23435	TARDBP	Neurodegeneration	HP:0002180
23435	TARDBP	Autosomal dominant inheritance	HP:0000006
23435	TARDBP	Apraxia	HP:0002186
23435	TARDBP	Dyscalculia	HP:0002442
23435	TARDBP	Degeneration of the lateral corticospinal tracts	HP:0002314
23435	TARDBP	Paralysis	HP:0003470
23435	TARDBP	Perseveration	HP:0030223
23435	TARDBP	Parkinsonism	HP:0001300
23435	TARDBP	Neuronal loss in the cerebral cortex	HP:0007190
23435	TARDBP	Progressive cerebellar ataxia	HP:0002073
23435	TARDBP	Distal muscle weakness	HP:0002460
23435	TARDBP	Babinski sign	HP:0003487
23435	TARDBP	Bilateral sensorineural hearing impairment	HP:0008619
23435	TARDBP	Dyspnea	HP:0002094
23435	TARDBP	Amyotrophic lateral sclerosis	HP:0007354
23435	TARDBP	Respiratory insufficiency due to muscle weakness	HP:0002747
23435	TARDBP	Respiratory failure	HP:0002878
23435	TARDBP	Abnormal lower motor neuron morphology	HP:0002366
23435	TARDBP	Muscle spasm	HP:0003394
23435	TARDBP	Emotional lability	HP:0000712
23435	TARDBP	Agitation	HP:0000713
23435	TARDBP	Depressivity	HP:0000716
23435	TARDBP	Fasciculations	HP:0002380
23435	TARDBP	Abnormal upper motor neuron morphology	HP:0002127
23435	TARDBP	Laryngospasm	HP:0025425
23435	TARDBP	Paraparesis	HP:0002385
23435	TARDBP	Xerostomia	HP:0000217
23435	TARDBP	Fatigue	HP:0012378
23435	TARDBP	Stereotypy	HP:0000733
23435	TARDBP	Supranuclear gaze palsy	HP:0000605
23435	TARDBP	Disinhibition	HP:0000734
23435	TARDBP	Rapidly progressive	HP:0003678
23435	TARDBP	Dysphagia	HP:0002015
23435	TARDBP	Frontotemporal dementia	HP:0002145
23435	TARDBP	Nausea and vomiting	HP:0002017
23435	TARDBP	Tetraparesis	HP:0002273
23435	TARDBP	Hallucinations	HP:0000738
23435	TARDBP	Anxiety	HP:0000739
23435	TARDBP	Apathy	HP:0000741
23435	TARDBP	Spasticity	HP:0001257
23435	TARDBP	Global brain atrophy	HP:0002283
23435	TARDBP	Dysarthria	HP:0001260
23435	TARDBP	Hyporeflexia	HP:0001265
23435	TARDBP	Fatigable weakness of swallowing muscles	HP:0030195
23435	TARDBP	Pain	HP:0012531
23435	TARDBP	Fatigable weakness of respiratory muscles	HP:0030196
23435	TARDBP	Generalized amyotrophy	HP:0003700
23435	TARDBP	Proximal muscle weakness	HP:0003701
23435	TARDBP	Gliosis	HP:0002171
23435	TARDBP	Generalized muscle weakness	HP:0003324
23435	TARDBP	Mutism	HP:0002300
23435	TARDBP	Ptosis	HP:0000508
56203	LMOD3	Skeletal muscle atrophy	HP:0003202
56203	LMOD3	Bulbar palsy	HP:0001283
56203	LMOD3	Facial palsy	HP:0010628
56203	LMOD3	Narrow chest	HP:0000774
56203	LMOD3	Abnormality of the diaphragm	HP:0000775
56203	LMOD3	Autosomal recessive inheritance	HP:0000007
56203	LMOD3	Neck flexor weakness	HP:0003722
56203	LMOD3	Generalized hypotonia	HP:0001290
56203	LMOD3	Hip dislocation	HP:0002827
56203	LMOD3	Narrow face	HP:0000275
56203	LMOD3	Decreased fetal movement	HP:0001558
56203	LMOD3	Polyhydramnios	HP:0001561
56203	LMOD3	Genu varum	HP:0002970
56203	LMOD3	Adducted thumb	HP:0001181
56203	LMOD3	Elevated serum creatine kinase	HP:0003236
56203	LMOD3	Neonatal hypotonia	HP:0001319
56203	LMOD3	Pulmonary hypoplasia	HP:0002089
56203	LMOD3	Genu valgum	HP:0002857
56203	LMOD3	Severe muscular hypotonia	HP:0006829
56203	LMOD3	Respiratory insufficiency	HP:0002093
56203	LMOD3	Hypospadias	HP:0000047
56203	LMOD3	Micropenis	HP:0000054
56203	LMOD3	Respiratory insufficiency due to muscle weakness	HP:0002747
56203	LMOD3	Nocturnal hypoventilation	HP:0002877
56203	LMOD3	Respiratory failure	HP:0002878
56203	LMOD3	Feeding difficulties	HP:0011968
56203	LMOD3	Increased connective tissue	HP:0009025
56203	LMOD3	Foot dorsiflexor weakness	HP:0009027
56203	LMOD3	Facial diplegia	HP:0001349
56203	LMOD3	Hypokinesia	HP:0002375
56203	LMOD3	Waddling gait	HP:0002515
56203	LMOD3	Premature birth	HP:0001622
56203	LMOD3	Nemaline bodies	HP:0003798
56203	LMOD3	Short neck	HP:0000470
56203	LMOD3	Breech presentation	HP:0001623
56203	LMOD3	Edema of the dorsum of hands	HP:0007514
56203	LMOD3	Ophthalmoplegia	HP:0000602
56203	LMOD3	Scoliosis	HP:0002650
56203	LMOD3	High palate	HP:0000218
56203	LMOD3	Type 1 muscle fiber predominance	HP:0003803
56203	LMOD3	Micrognathia	HP:0000347
56203	LMOD3	Multiple prenatal fractures	HP:0005855
56203	LMOD3	Dysphagia	HP:0002015
56203	LMOD3	Increased variability in muscle fiber diameter	HP:0003557
56203	LMOD3	Spinal rigidity	HP:0003306
56203	LMOD3	Hyperlordosis	HP:0003307
56203	LMOD3	Large fontanelles	HP:0000239
56203	LMOD3	Low-set ears	HP:0000369
56203	LMOD3	Hyporeflexia	HP:0001265
56203	LMOD3	Thin ribs	HP:0000883
56203	LMOD3	Arthrogryposis multiplex congenita	HP:0002804
56203	LMOD3	Fatigable weakness of respiratory muscles	HP:0030196
56203	LMOD3	Motor delay	HP:0001270
56203	LMOD3	Fatigable weakness of distal limb muscles	HP:0030198
56203	LMOD3	Kyphosis	HP:0002808
56203	LMOD3	Fatiguable weakness of proximal limb muscles	HP:0030200
56203	LMOD3	Ptosis	HP:0000508
56203	LMOD3	Generalized muscle weakness	HP:0003324
56203	LMOD3	Limb-girdle muscle weakness	HP:0003325
56203	LMOD3	Myopathy	HP:0003198
56203	LMOD3	Axial muscle weakness	HP:0003327
56203	LMOD3	Pectus excavatum	HP:0000767
80781	COL18A1	Cataract	HP:0000518
80781	COL18A1	Autosomal recessive inheritance	HP:0000007
80781	COL18A1	Ventriculomegaly	HP:0002119
80781	COL18A1	Developmental cataract	HP:0000519
80781	COL18A1	Band keratopathy	HP:0000585
80781	COL18A1	Cerebral atrophy	HP:0002059
80781	COL18A1	Vesicoureteral reflux	HP:0000076
80781	COL18A1	Polymicrogyria	HP:0002126
80781	COL18A1	Macular hypoplasia	HP:0001104
80781	COL18A1	Progressive visual loss	HP:0000529
80781	COL18A1	Calvarial skull defect	HP:0001362
80781	COL18A1	Bifid ureter	HP:0030037
80781	COL18A1	Midface retrusion	HP:0011800
80781	COL18A1	Phthisis bulbi	HP:0000667
80781	COL18A1	Retinal detachment	HP:0000541
80781	COL18A1	Vitreoretinopathy	HP:0007773
80781	COL18A1	Lymphangioma	HP:0100764
80781	COL18A1	Epicanthus	HP:0000286
80781	COL18A1	Macular degeneration	HP:0000608
80781	COL18A1	Depressed nasal bridge	HP:0005280
80781	COL18A1	Myopia	HP:0000545
80781	COL18A1	Seizures	HP:0001250
80781	COL18A1	Ataxia	HP:0001251
80781	COL18A1	Occipital encephalocele	HP:0002085
80781	COL18A1	Pyloric stenosis	HP:0002021
80781	COL18A1	Strabismus	HP:0000486
80781	COL18A1	Patent ductus arteriosus	HP:0001643
80781	COL18A1	Hydrocephalus	HP:0000238
80781	COL18A1	Peripapillary atrophy	HP:0500087
80781	COL18A1	Dextrocardia	HP:0001651
80781	COL18A1	Mental deterioration	HP:0001268
80781	COL18A1	Cerebellar atrophy	HP:0001272
80781	COL18A1	High myopia	HP:0011003
80781	COL18A1	Ectopia lentis	HP:0001083
80781	COL18A1	Abnormal hair morphology	HP:0001595
80781	COL18A1	Visual loss	HP:0000572
80781	COL18A1	Joint hyperflexibility	HP:0005692
80781	COL18A1	Nystagmus	HP:0000639
7053	TGM3	Woolly hair	HP:0002224
7053	TGM3	Coarse hair	HP:0002208
7053	TGM3	White hair	HP:0011364
7053	TGM3	Alopecia areata	HP:0002229
7053	TGM3	Autosomal recessive inheritance	HP:0000007
7053	TGM3	Trichodysplasia	HP:0002552
7053	TGM3	Uncombable hair	HP:0030056
7053	TGM3	Infantile onset	HP:0003593
7053	TGM3	Pili canaliculi	HP:0002235
7053	TGM3	Juvenile cataract	HP:0001118
7054	TH	Feeding difficulties	HP:0011968
7054	TH	Brisk reflexes	HP:0001348
7054	TH	Excessive salivation	HP:0003781
7054	TH	Central hypotonia	HP:0011398
7054	TH	Hypokinesia	HP:0002375
7054	TH	Autosomal recessive inheritance	HP:0000007
7054	TH	Decreased CSF homovanillic acid	HP:0003785
7054	TH	Infantile onset	HP:0003593
7054	TH	Generalized hypotonia	HP:0001290
7054	TH	Rigidity	HP:0002063
7054	TH	Progressive encephalopathy	HP:0002448
7054	TH	Gait ataxia	HP:0002066
7054	TH	Limb dystonia	HP:0002451
7054	TH	Bradykinesia	HP:0002067
7054	TH	Parkinsonism	HP:0001300
7054	TH	Focal dystonia	HP:0004373
7054	TH	Night sweats	HP:0030166
7054	TH	Fever	HP:0001945
7054	TH	Lower limb hyperreflexia	HP:0002395
7054	TH	Generalized dystonia	HP:0007325
7054	TH	Babinski sign	HP:0003487
7054	TH	Irritability	HP:0000737
7054	TH	Pes cavus	HP:0001761
7054	TH	Talipes equinovarus	HP:0001762
7054	TH	Constipation	HP:0002019
7054	TH	Lethargy	HP:0001254
7054	TH	Intellectual disability, mild	HP:0001256
7054	TH	Muscular hypotonia of the trunk	HP:0008936
7054	TH	Mask-like facies	HP:0000298
7054	TH	Delayed speech and language development	HP:0000750
7054	TH	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
7054	TH	Variable expressivity	HP:0003828
7054	TH	Motor delay	HP:0001270
7054	TH	Myoclonus	HP:0001336
7054	TH	Oculogyric crisis	HP:0010553
7054	TH	Tremor	HP:0001337
7054	TH	Ptosis	HP:0000508
7054	TH	Postural tremor	HP:0002174
23438	HARS2	Sensorineural hearing impairment	HP:0000407
23438	HARS2	Autosomal recessive inheritance	HP:0000007
7056	THBD	Deep venous thrombosis	HP:0002625
7056	THBD	Hypercoagulability	HP:0100724
285590	SH3PXD2B	Genu recurvatum	HP:0002816
285590	SH3PXD2B	Umbilical hernia	HP:0001537
285590	SH3PXD2B	Gynecomastia	HP:0000771
285590	SH3PXD2B	Anterior concavity of thoracic vertebrae	HP:0004611
285590	SH3PXD2B	Brachydactyly	HP:0001156
285590	SH3PXD2B	Wide anterior fontanel	HP:0000260
285590	SH3PXD2B	Avascular necrosis	HP:0010885
285590	SH3PXD2B	Autosomal recessive inheritance	HP:0000007
285590	SH3PXD2B	Proptosis	HP:0000520
285590	SH3PXD2B	Camptodactyly of finger	HP:0100490
285590	SH3PXD2B	Abnormality of the metacarpal bones	HP:0001163
285590	SH3PXD2B	Delayed cranial suture closure	HP:0000270
285590	SH3PXD2B	Broad clavicles	HP:0000916
285590	SH3PXD2B	Inguinal hernia	HP:0000023
285590	SH3PXD2B	Coarse facial features	HP:0000280
285590	SH3PXD2B	Wide mouth	HP:0000154
285590	SH3PXD2B	Protruding ear	HP:0000411
285590	SH3PXD2B	Depressed nasal bridge	HP:0005280
285590	SH3PXD2B	Acne	HP:0001061
285590	SH3PXD2B	Full cheeks	HP:0000293
285590	SH3PXD2B	Osteopenia	HP:0000938
285590	SH3PXD2B	Osteoporosis	HP:0000939
285590	SH3PXD2B	Delayed eruption of teeth	HP:0000684
285590	SH3PXD2B	Buphthalmos	HP:0000557
285590	SH3PXD2B	Wide nasal bridge	HP:0000431
285590	SH3PXD2B	Mandibular prognathia	HP:0000303
285590	SH3PXD2B	Thickened skin	HP:0001072
285590	SH3PXD2B	Metatarsus adductus	HP:0001840
285590	SH3PXD2B	Dental malocclusion	HP:0000689
285590	SH3PXD2B	Thick vermilion border	HP:0012471
285590	SH3PXD2B	Hypertelorism	HP:0000316
285590	SH3PXD2B	Short philtrum	HP:0000322
285590	SH3PXD2B	Abnormally large globe	HP:0001090
285590	SH3PXD2B	Broad nasal tip	HP:0000455
285590	SH3PXD2B	Flared metaphysis	HP:0003015
285590	SH3PXD2B	Short phalanx of finger	HP:0009803
285590	SH3PXD2B	Premature loss of teeth	HP:0006480
285590	SH3PXD2B	Prominent coccyx	HP:0040016
285590	SH3PXD2B	Broad forehead	HP:0000337
285590	SH3PXD2B	Short long bone	HP:0003026
285590	SH3PXD2B	Gingival overgrowth	HP:0000212
285590	SH3PXD2B	Prominent forehead	HP:0011220
285590	SH3PXD2B	Wormian bones	HP:0002645
285590	SH3PXD2B	Bowing of the long bones	HP:0006487
285590	SH3PXD2B	Beaking of vertebral bodies	HP:0004568
285590	SH3PXD2B	Abnormality of cardiovascular system morphology	HP:0030680
285590	SH3PXD2B	Scoliosis	HP:0002650
285590	SH3PXD2B	High palate	HP:0000218
285590	SH3PXD2B	Abnormal heart morphology	HP:0001627
285590	SH3PXD2B	Micrognathia	HP:0000347
285590	SH3PXD2B	High forehead	HP:0000348
285590	SH3PXD2B	Flat occiput	HP:0005469
285590	SH3PXD2B	Mitral valve prolapse	HP:0001634
285590	SH3PXD2B	Talipes equinovarus	HP:0001762
285590	SH3PXD2B	Cortical irregularity	HP:0005731
285590	SH3PXD2B	Growth delay	HP:0001510
285590	SH3PXD2B	Hip dysplasia	HP:0001385
285590	SH3PXD2B	Deeply set eye	HP:0000490
285590	SH3PXD2B	Joint stiffness	HP:0001387
285590	SH3PXD2B	Osteolysis	HP:0002797
285590	SH3PXD2B	Downslanted palpebral fissures	HP:0000494
285590	SH3PXD2B	Clinodactyly of the 5th finger	HP:0004209
285590	SH3PXD2B	Low-set ears	HP:0000369
285590	SH3PXD2B	Glaucoma	HP:0000501
285590	SH3PXD2B	Motor delay	HP:0001270
285590	SH3PXD2B	Kyphosis	HP:0002808
285590	SH3PXD2B	Pectus excavatum	HP:0000767
23443	SLC35A3	Intellectual disability	HP:0001249
23443	SLC35A3	Seizures	HP:0001250
23443	SLC35A3	Hammertoe	HP:0001765
23443	SLC35A3	Intellectual disability, moderate	HP:0002342
23443	SLC35A3	Autosomal recessive inheritance	HP:0000007
23443	SLC35A3	Intellectual disability, mild	HP:0001256
23443	SLC35A3	Absence seizure	HP:0002121
23443	SLC35A3	Hip dysplasia	HP:0001385
23443	SLC35A3	Generalized hypotonia	HP:0001290
23443	SLC35A3	Camptodactyly of finger	HP:0100490
23443	SLC35A3	Hip dislocation	HP:0002827
23443	SLC35A3	Global developmental delay	HP:0001263
23443	SLC35A3	Knee dislocation	HP:0004976
23443	SLC35A3	Intellectual disability, severe	HP:0010864
23443	SLC35A3	Microretrognathia	HP:0000308
23443	SLC35A3	Arthrogryposis multiplex congenita	HP:0002804
23443	SLC35A3	Autistic behavior	HP:0000729
23443	SLC35A3	Scoliosis	HP:0002650
23443	SLC35A3	Microcephaly	HP:0000252
7062	TCHH	Curly hair	HP:0002212
7062	TCHH	Autosomal recessive inheritance	HP:0000007
7062	TCHH	Uncombable hair	HP:0030056
7062	TCHH	Pili canaliculi	HP:0002235
7066	THPO	Chronic myelogenous leukemia	HP:0005506
7066	THPO	Arterial thrombosis	HP:0004420
7066	THPO	Autosomal dominant inheritance	HP:0000006
7066	THPO	Venous thrombosis	HP:0004936
7066	THPO	Acute myeloid leukemia	HP:0004808
7066	THPO	Paresthesia	HP:0003401
7066	THPO	Headache	HP:0002315
7066	THPO	Chest pain	HP:0100749
7066	THPO	Hyperhidrosis	HP:0000975
7066	THPO	Splenomegaly	HP:0001744
7066	THPO	Vertigo	HP:0002321
7066	THPO	Spontaneous abortion	HP:0005268
7066	THPO	Somatic mutation	HP:0001428
7066	THPO	Impaired platelet aggregation	HP:0003540
7066	THPO	Transient ischemic attack	HP:0002326
7066	THPO	Peripheral arterial stenosis	HP:0004950
7066	THPO	Abnormality of the skeletal system	HP:0000924
7066	THPO	Pruritus	HP:0000989
7066	THPO	Weight loss	HP:0001824
7066	THPO	Seizures	HP:0001250
7066	THPO	Visual field defect	HP:0001123
7066	THPO	Abnormal bleeding	HP:0001892
7066	THPO	Thrombocytosis	HP:0001894
7066	THPO	Acrocyanosis	HP:0001063
7066	THPO	Myeloproliferative disorder	HP:0005547
7066	THPO	Dysarthria	HP:0001260
7066	THPO	Pulmonary arterial hypertension	HP:0002092
7066	THPO	Myelodysplasia	HP:0002863
7066	THPO	Hypertension	HP:0000822
7066	THPO	Syncope	HP:0001279
23451	SF3B1	Ocular hypertension	HP:0007906
23451	SF3B1	Photopsia	HP:0030786
23451	SF3B1	Iris melanoma	HP:0011524
23451	SF3B1	Zonular cataract	HP:0010920
23451	SF3B1	Mydriasis	HP:0011499
23451	SF3B1	Inferior lens subluxation	HP:0008494
23451	SF3B1	Myelodysplasia	HP:0002863
23451	SF3B1	Abnormal visual accommodation	HP:0030800
23451	SF3B1	Somatic mutation	HP:0001428
23451	SF3B1	Inflammatory abnormality of the eye	HP:0100533
23451	SF3B1	Choroidal melanoma	HP:0012054
23451	SF3B1	Ciliary body melanoma	HP:0012055
23451	SF3B1	Ocular pain	HP:0200026
23451	SF3B1	Abnormality of refraction	HP:0000539
23451	SF3B1	Visual loss	HP:0000572
23451	SF3B1	Metamorphopsia	HP:0012508
23451	SF3B1	Retinal detachment	HP:0000541
23451	SF3B1	Vitreous hemorrhage	HP:0007902
7067	THRA	Feeding difficulties	HP:0011968
7067	THRA	Umbilical hernia	HP:0001537
7067	THRA	Relative macrocephaly	HP:0004482
7067	THRA	Omphalocele	HP:0001539
7067	THRA	Autosomal dominant inheritance	HP:0000006
7067	THRA	Abdominal distention	HP:0003270
7067	THRA	Hoarse voice	HP:0001609
7067	THRA	Increased T3/T4 ratio	HP:0012559
7067	THRA	Congenital hypothyroidism	HP:0000851
7067	THRA	Wormian bones	HP:0002645
7067	THRA	Broad-based gait	HP:0002136
7067	THRA	Coarse facial features	HP:0000280
7067	THRA	Drowsiness	HP:0002329
7067	THRA	Macroglossia	HP:0000158
7067	THRA	Congenital hip dislocation	HP:0001374
7067	THRA	Constipation	HP:0002019
7067	THRA	Increased body weight	HP:0004324
7067	THRA	Muscular hypotonia	HP:0001252
7067	THRA	Growth delay	HP:0001510
7067	THRA	Delayed eruption of teeth	HP:0000684
7067	THRA	Anemia	HP:0001903
7067	THRA	Large fontanelles	HP:0000239
7067	THRA	Thyroid hormone receptor defect	HP:0002930
7067	THRA	Hypothyroidism	HP:0000821
7067	THRA	Sleep disturbance	HP:0002360
7067	THRA	Jaundice	HP:0000952
7067	THRA	Hypertelorism	HP:0000316
7067	THRA	Dry skin	HP:0000958
7067	THRA	Delayed skeletal maturation	HP:0002750
7068	THRB	Feeding difficulties	HP:0011968
7068	THRB	Pectus carinatum	HP:0000768
7068	THRB	Umbilical hernia	HP:0001537
7068	THRB	Hyperthyroidism	HP:0000836
7068	THRB	Autosomal dominant inheritance	HP:0000006
7068	THRB	Abdominal distention	HP:0003270
7068	THRB	Autosomal recessive inheritance	HP:0000007
7068	THRB	Proptosis	HP:0000520
7068	THRB	Increased circulating free T3	HP:0011788
7068	THRB	Sprengel anomaly	HP:0000912
7068	THRB	Goiter	HP:0000853
7068	THRB	Sensorineural hearing impairment	HP:0000407
7068	THRB	Coarse facial features	HP:0000280
7068	THRB	Macroglossia	HP:0000158
7068	THRB	Epiphyseal stippling	HP:0010655
7068	THRB	Constipation	HP:0002019
7068	THRB	Muscular hypotonia	HP:0001252
7068	THRB	Attention deficit hyperactivity disorder	HP:0007018
7068	THRB	Increased thyroid-stimulating hormone level	HP:0002925
7068	THRB	Hearing impairment	HP:0000365
7068	THRB	Delayed speech and language development	HP:0000750
7068	THRB	Small for gestational age	HP:0001518
7068	THRB	Large fontanelles	HP:0000239
7068	THRB	Thyroid hormone receptor defect	HP:0002930
7068	THRB	Abnormality of the thyroid gland	HP:0000820
7068	THRB	Hypothyroidism	HP:0000821
7068	THRB	Sleep disturbance	HP:0002360
7068	THRB	Jaundice	HP:0000952
7068	THRB	Convex nasal ridge	HP:0000444
7068	THRB	Delayed skeletal maturation	HP:0002750
64412	GZF1	Iris coloboma	HP:0000612
64412	GZF1	Glaucoma	HP:0000501
64412	GZF1	Chorioretinal coloboma	HP:0000567
64412	GZF1	Proptosis	HP:0000520
64412	GZF1	High myopia	HP:0011003
64412	GZF1	Retinal detachment	HP:0000541
7072	TIA1	Steppage gait	HP:0003376
7072	TIA1	Mildly elevated creatine kinase	HP:0008180
7072	TIA1	Autosomal dominant inheritance	HP:0000006
7072	TIA1	Autosomal recessive inheritance	HP:0000007
7072	TIA1	Distal muscle weakness	HP:0002460
7072	TIA1	Slow progression	HP:0003677
7072	TIA1	Adult onset	HP:0003581
7072	TIA1	Rimmed vacuoles	HP:0003805
7072	TIA1	Distal amyotrophy	HP:0003693
7072	TIA1	Myopathy	HP:0003198
64419	MTMR14	EMG: myopathic abnormalities	HP:0003458
64419	MTMR14	Macrocephaly at birth	HP:0004488
64419	MTMR14	Generalized hypotonia	HP:0001290
64419	MTMR14	Delayed gross motor development	HP:0002194
64419	MTMR14	Urinary incontinence	HP:0000020
64419	MTMR14	Spontaneous abortion	HP:0005268
64419	MTMR14	Peripheral axonal neuropathy	HP:0003477
64419	MTMR14	Calf muscle hypertrophy	HP:0008981
64419	MTMR14	Decreased fetal movement	HP:0001558
64419	MTMR14	Cavernous hemangioma	HP:0001048
64419	MTMR14	Polyhydramnios	HP:0001561
64419	MTMR14	Areflexia of lower limbs	HP:0002522
64419	MTMR14	Exercise-induced myalgia	HP:0003738
64419	MTMR14	Type 1 muscle fiber predominance	HP:0003803
64419	MTMR14	Cryptorchidism	HP:0000028
64419	MTMR14	Abnormality of the foot musculature	HP:0001436
64419	MTMR14	Neonatal asphyxia	HP:0012768
64419	MTMR14	External ophthalmoplegia	HP:0000544
64419	MTMR14	Proximal muscle weakness in lower limbs	HP:0008994
64419	MTMR14	Pyloric stenosis	HP:0002021
64419	MTMR14	Proximal muscle weakness in upper limbs	HP:0008997
64419	MTMR14	Centrally nucleated skeletal muscle fibers	HP:0003687
64419	MTMR14	Large for gestational age	HP:0001520
64419	MTMR14	Muscle fibrillation	HP:0010546
64419	MTMR14	Thin ribs	HP:0000883
64419	MTMR14	Difficulty walking	HP:0002355
64419	MTMR14	Mildly elevated creatine kinase	HP:0008180
64419	MTMR14	Respiratory insufficiency due to muscle weakness	HP:0002747
64419	MTMR14	Ptosis	HP:0000508
64419	MTMR14	Malignant hyperthermia	HP:0002047
23461	ABCA5	Seizures	HP:0001250
23461	ABCA5	Ataxia	HP:0001251
23461	ABCA5	Hypertrichosis	HP:0000998
23461	ABCA5	Autosomal dominant inheritance	HP:0000006
23461	ABCA5	Autosomal recessive inheritance	HP:0000007
23461	ABCA5	Thick nasal alae	HP:0009928
23461	ABCA5	Gingival fibromatosis	HP:0000169
23461	ABCA5	Wide nasal base	HP:0012810
23461	ABCA5	Delayed eruption of teeth	HP:0000684
23461	ABCA5	Downslanted palpebral fissures	HP:0000494
23461	ABCA5	Hirsutism	HP:0001007
23461	ABCA5	EEG abnormality	HP:0002353
23461	ABCA5	Gingival overgrowth	HP:0000212
23461	ABCA5	Generalized hirsutism	HP:0002230
23461	ABCA5	Synophrys	HP:0000664
23461	ABCA5	Coarse facial features	HP:0000280
23461	ABCA5	Congenital, generalized hypertrichosis	HP:0004540
23461	ABCA5	Bulbous nose	HP:0000414
23461	ABCA5	Epicanthus	HP:0000286
23461	ABCA5	Thick eyebrow	HP:0000574
23461	ABCA5	Cognitive impairment	HP:0100543
64421	DCLRE1C	Hepatomegaly	HP:0002240
64421	DCLRE1C	Hypoproteinemia	HP:0003075
64421	DCLRE1C	Panhypogammaglobulinemia	HP:0003139
64421	DCLRE1C	Otitis media	HP:0000388
64421	DCLRE1C	Autosomal recessive inheritance	HP:0000007
64421	DCLRE1C	Sepsis	HP:0100806
64421	DCLRE1C	Edema	HP:0000969
64421	DCLRE1C	Hypoplasia of the thymus	HP:0000778
64421	DCLRE1C	Recurrent viral infections	HP:0004429
64421	DCLRE1C	Severe combined immunodeficiency	HP:0004430
64421	DCLRE1C	Splenomegaly	HP:0001744
64421	DCLRE1C	Autoimmunity	HP:0002960
64421	DCLRE1C	Thrombocytopenia	HP:0001873
64421	DCLRE1C	Eosinophilia	HP:0001880
64421	DCLRE1C	Recurrent fungal infections	HP:0002841
64421	DCLRE1C	Fever	HP:0001945
64421	DCLRE1C	Oral ulcer	HP:0000155
64421	DCLRE1C	Lymphadenopathy	HP:0002716
64421	DCLRE1C	Pruritus	HP:0000989
64421	DCLRE1C	Absent tonsils	HP:0030813
64421	DCLRE1C	Recurrent bacterial infections	HP:0002718
64421	DCLRE1C	Diarrhea	HP:0002014
64421	DCLRE1C	Failure to thrive	HP:0001508
64421	DCLRE1C	Nephrotic syndrome	HP:0000100
64421	DCLRE1C	Recurrent upper respiratory tract infections	HP:0002788
64421	DCLRE1C	Thyroiditis	HP:0100646
64421	DCLRE1C	Short toe	HP:0001831
64421	DCLRE1C	Aplasia/Hypoplasia of the eyebrow	HP:0100840
64421	DCLRE1C	Lymphoma	HP:0002665
64421	DCLRE1C	Pneumonia	HP:0002090
64421	DCLRE1C	Abnormal lymphocyte morphology	HP:0004332
64421	DCLRE1C	Chronic diarrhea	HP:0002028
64421	DCLRE1C	Lymph node hypoplasia	HP:0002732
64421	DCLRE1C	Anemia	HP:0001903
64421	DCLRE1C	Aplasia of the thymus	HP:0005359
64421	DCLRE1C	Thickened skin	HP:0001072
64421	DCLRE1C	Abnormality of the metaphysis	HP:0000944
64421	DCLRE1C	Genital ulcers	HP:0003249
64421	DCLRE1C	Severe B lymphocytopenia	HP:0005365
64421	DCLRE1C	Hypothyroidism	HP:0000821
64421	DCLRE1C	Erythroderma	HP:0001019
64421	DCLRE1C	Alopecia	HP:0001596
64421	DCLRE1C	Desquamation of skin soon after birth	HP:0007549
64421	DCLRE1C	Dry skin	HP:0000958
7078	TIMP3	Abnormal electroretinogram	HP:0000512
7078	TIMP3	Glaucoma	HP:0000501
7078	TIMP3	Autosomal dominant inheritance	HP:0000006
7078	TIMP3	Blindness	HP:0000618
7078	TIMP3	Macular dystrophy	HP:0007754
64423	INF2	Pes cavus	HP:0001761
64423	INF2	Focal segmental glomerulosclerosis	HP:0000097
64423	INF2	Foot dorsiflexor weakness	HP:0009027
64423	INF2	Areflexia	HP:0001284
64423	INF2	Nephrotic syndrome	HP:0000100
64423	INF2	Hammertoe	HP:0001765
64423	INF2	Autosomal dominant inheritance	HP:0000006
64423	INF2	Distal upper limb amyotrophy	HP:0007149
64423	INF2	Distal lower limb amyotrophy	HP:0008944
64423	INF2	Steppage gait	HP:0003376
64423	INF2	Hyporeflexia	HP:0001265
64423	INF2	Split hand	HP:0001171
64423	INF2	Onion bulb formation	HP:0003383
64423	INF2	Axonal loss	HP:0003447
64423	INF2	Distal sensory impairment	HP:0002936
64423	INF2	Distal muscle weakness	HP:0002460
64423	INF2	Progressive	HP:0003676
64423	INF2	Proteinuria	HP:0000093
64423	INF2	Stage 5 chronic kidney disease	HP:0003774
7080	NKX2-1	Feeding difficulties	HP:0011968
7080	NKX2-1	Autosomal dominant inheritance	HP:0000006
7080	NKX2-1	Abdominal distention	HP:0003270
7080	NKX2-1	Abnormal cardiac septum morphology	HP:0001671
7080	NKX2-1	Gait disturbance	HP:0001288
7080	NKX2-1	Generalized hypotonia	HP:0001290
7080	NKX2-1	Neonatal respiratory distress	HP:0002643
7080	NKX2-1	Congenital hypothyroidism	HP:0000851
7080	NKX2-1	Chorea	HP:0002072
7080	NKX2-1	Coarse facial features	HP:0000280
7080	NKX2-1	Fatigue	HP:0012378
7080	NKX2-1	Recurrent respiratory infections	HP:0002205
7080	NKX2-1	Ventricular septal defect	HP:0001629
7080	NKX2-1	Macroglossia	HP:0000158
7080	NKX2-1	Atrial septal defect	HP:0001631
7080	NKX2-1	Compensated hypothyroidism	HP:0008223
7080	NKX2-1	Short stature	HP:0004322
7080	NKX2-1	Ataxia	HP:0001251
7080	NKX2-1	Anxiety	HP:0000739
7080	NKX2-1	Constipation	HP:0002019
7080	NKX2-1	Muscular hypotonia	HP:0001252
7080	NKX2-1	Juvenile onset	HP:0003621
7080	NKX2-1	Dysarthria	HP:0001260
7080	NKX2-1	Muscle weakness	HP:0001324
7080	NKX2-1	Increased thyroid-stimulating hormone level	HP:0002925
7080	NKX2-1	Global developmental delay	HP:0001263
7080	NKX2-1	Large fontanelles	HP:0000239
7080	NKX2-1	Intellectual disability, severe	HP:0010864
7080	NKX2-1	Respiratory distress	HP:0002098
7080	NKX2-1	Choreoathetosis	HP:0001266
7080	NKX2-1	Asthma	HP:0002099
7080	NKX2-1	Difficulty walking	HP:0002355
7080	NKX2-1	Hypersomnia	HP:0100786
7080	NKX2-1	Dystonia	HP:0001332
7080	NKX2-1	Hypothyroidism	HP:0000821
7080	NKX2-1	Motor delay	HP:0001270
7080	NKX2-1	Sleep disturbance	HP:0002360
7080	NKX2-1	Congenital onset	HP:0003577
7080	NKX2-1	Thyroid agenesis	HP:0008191
220074	LRTOMT	Autosomal recessive inheritance	HP:0000007
220074	LRTOMT	Congenital onset	HP:0003577
220074	LRTOMT	Congenital sensorineural hearing impairment	HP:0008527
7084	TK2	Ragged-red muscle fibers	HP:0003200
7084	TK2	Skeletal muscle atrophy	HP:0003202
7084	TK2	EMG: myopathic abnormalities	HP:0003458
7084	TK2	Bulbar palsy	HP:0001283
7084	TK2	Recurrent pneumonia	HP:0006532
7084	TK2	Facial palsy	HP:0010628
7084	TK2	Autosomal recessive inheritance	HP:0000007
7084	TK2	Optic atrophy	HP:0000648
7084	TK2	Infantile onset	HP:0003593
7084	TK2	Generalized hypotonia	HP:0001290
7084	TK2	Cerebral atrophy	HP:0002059
7084	TK2	Decreased activity of mitochondrial respiratory chain	HP:0008972
7084	TK2	Chronic fatigue	HP:0012432
7084	TK2	Delayed gross motor development	HP:0002194
7084	TK2	Bradykinesia	HP:0002067
7084	TK2	Generalized-onset seizure	HP:0002197
7084	TK2	Mitochondrial myopathy	HP:0003737
7084	TK2	Aminoaciduria	HP:0003355
7084	TK2	Distal muscle weakness	HP:0002460
7084	TK2	Motor deterioration	HP:0002333
7084	TK2	Hand muscle weakness	HP:0030237
7084	TK2	External ophthalmoplegia	HP:0000544
7084	TK2	Infantile sensorineural hearing impairment	HP:0008610
7084	TK2	Elevated serum creatine kinase	HP:0003236
7084	TK2	Feeding difficulties in infancy	HP:0008872
7084	TK2	Action tremor	HP:0002345
7084	TK2	Mask-like facies	HP:0000298
7084	TK2	Optic neuritis	HP:0100653
7084	TK2	Severe sensorineural hearing impairment	HP:0008625
7084	TK2	Respiratory distress	HP:0002098
7084	TK2	Difficulty walking	HP:0002355
7084	TK2	Depletion of mitochondrial DNA in muscle tissue	HP:0009141
7084	TK2	Lactic acidosis	HP:0003128
7084	TK2	Ventilator dependence with inability to wean	HP:0005946
7084	TK2	Shuffling gait	HP:0002362
7084	TK2	Respiratory insufficiency due to muscle weakness	HP:0002747
7084	TK2	Stooped posture	HP:0025403
7084	TK2	Respiratory failure	HP:0002878
7084	TK2	Cognitive impairment	HP:0100543
7084	TK2	Sensory axonal neuropathy	HP:0003390
7084	TK2	Gowers sign	HP:0003391
7084	TK2	Infantile encephalopathy	HP:0007105
7084	TK2	Abnormality of the cerebral white matter	HP:0002500
7084	TK2	Facial diplegia	HP:0001349
7084	TK2	Muscle fiber atrophy	HP:0100295
7084	TK2	Developmental regression	HP:0002376
7084	TK2	Paresthesia	HP:0003401
7084	TK2	Depressivity	HP:0000716
7084	TK2	Progressive external ophthalmoplegia	HP:0000590
7084	TK2	Bilateral ptosis	HP:0001488
7084	TK2	Weak voice	HP:0001621
7084	TK2	Abnormality of the basal ganglia	HP:0002134
7084	TK2	Dyschromatopsia	HP:0007641
7084	TK2	Exercise intolerance	HP:0003546
7084	TK2	Scoliosis	HP:0002650
7084	TK2	Cogwheel rigidity	HP:0002396
7084	TK2	Progressive	HP:0003676
7084	TK2	Dysphagia	HP:0002015
7084	TK2	Abnormal retinal morphology	HP:0000479
7084	TK2	Muscle stiffness	HP:0003552
7084	TK2	Irritability	HP:0000737
7084	TK2	Seizures	HP:0001250
7084	TK2	Ataxia	HP:0001251
7084	TK2	Muscular hypotonia	HP:0001252
7084	TK2	Spinal muscular atrophy	HP:0007269
7084	TK2	Cardiomyopathy	HP:0001638
7084	TK2	Increased serum lactate	HP:0002151
7084	TK2	Intellectual disability, progressive	HP:0006887
7084	TK2	Cytochrome C oxidase-negative muscle fibers	HP:0003688
7084	TK2	Abnormality of the cerebrospinal fluid	HP:0002921
7084	TK2	Limb muscle weakness	HP:0003690
7084	TK2	Scapular winging	HP:0003691
7084	TK2	Dysarthria	HP:0001260
7084	TK2	Hearing impairment	HP:0000365
7084	TK2	Weakness of facial musculature	HP:0030319
7084	TK2	Progressive proximal muscle weakness	HP:0009073
7084	TK2	Hyporeflexia	HP:0001265
7084	TK2	Loss of ability to walk in early childhood	HP:0008945
7084	TK2	Difficulty standing	HP:0003698
7084	TK2	Parkinsonism with favorable response to dopaminergic medication	HP:0002548
7084	TK2	Variable expressivity	HP:0003828
7084	TK2	Generalized amyotrophy	HP:0003700
7084	TK2	Proximal muscle weakness	HP:0003701
7084	TK2	Motor delay	HP:0001270
7084	TK2	Distal sensory impairment	HP:0002936
7084	TK2	Cerebellar atrophy	HP:0001272
7084	TK2	Visual impairment	HP:0000505
7084	TK2	Failure to thrive in infancy	HP:0001531
7084	TK2	Generalized muscle weakness	HP:0003324
7084	TK2	Ptosis	HP:0000508
7084	TK2	Myalgia	HP:0003326
7084	TK2	Myopathy	HP:0003198
7086	TKT	Intellectual disability	HP:0001249
7086	TKT	Obsessive-compulsive behavior	HP:0000722
7086	TKT	Proportionate short stature	HP:0003508
7086	TKT	Autosomal recessive inheritance	HP:0000007
7086	TKT	Patent foramen ovale	HP:0001655
7086	TKT	Uveitis	HP:0000554
7086	TKT	Attention deficit hyperactivity disorder	HP:0007018
7086	TKT	Generalized hypotonia	HP:0001290
7086	TKT	Patent ductus arteriosus	HP:0001643
7086	TKT	Self-injurious behavior	HP:0100716
7086	TKT	Ventricular septal defect	HP:0001629
7086	TKT	Stereotypy	HP:0000733
80816	ASXL3	Delayed ability to walk	HP:0031936
80816	ASXL3	Absent speech	HP:0001344
80816	ASXL3	Feeding difficulties	HP:0011968
80816	ASXL3	Intellectual disability	HP:0001249
80816	ASXL3	Seizures	HP:0001250
80816	ASXL3	Failure to thrive	HP:0001508
80816	ASXL3	Strabismus	HP:0000486
80816	ASXL3	Upslanted palpebral fissure	HP:0000582
80816	ASXL3	Broad nasal tip	HP:0000455
80816	ASXL3	Everted lower lip vermilion	HP:0000232
80816	ASXL3	Prominent nasal bridge	HP:0000426
80816	ASXL3	Inability to walk	HP:0002540
80816	ASXL3	Downslanted palpebral fissures	HP:0000494
80816	ASXL3	Disproportionate tall stature	HP:0001519
80816	ASXL3	Severe global developmental delay	HP:0011344
80816	ASXL3	Severe postnatal growth retardation	HP:0008850
80816	ASXL3	Highly arched eyebrow	HP:0002553
80816	ASXL3	Wide mouth	HP:0000154
80816	ASXL3	High palate	HP:0000218
80816	ASXL3	Microcephaly	HP:0000252
80816	ASXL3	Short nose	HP:0003196
80816	ASXL3	Hypertelorism	HP:0000316
80816	ASXL3	Hypoplasia of the corpus callosum	HP:0002079
23474	ETHE1	Petechiae	HP:0000967
23474	ETHE1	Autosomal recessive inheritance	HP:0000007
23474	ETHE1	Developmental regression	HP:0002376
23474	ETHE1	Generalized hypotonia	HP:0001290
23474	ETHE1	Abnormal brainstem MRI signal intensity	HP:0012747
23474	ETHE1	Focal T2 hyperintense basal ganglia lesion	HP:0007183
23474	ETHE1	Abnormal basal ganglia MRI signal intensity	HP:0012751
23474	ETHE1	Encephalopathy	HP:0001298
23474	ETHE1	Ethylmalonic aciduria	HP:0003219
23474	ETHE1	Neurodevelopmental delay	HP:0012758
23474	ETHE1	Abnormality of extrapyramidal motor function	HP:0002071
23474	ETHE1	Abnormal pyramidal sign	HP:0007256
23474	ETHE1	Diarrhea	HP:0002014
23474	ETHE1	Intellectual disability	HP:0001249
23474	ETHE1	Seizures	HP:0001250
23474	ETHE1	Ataxia	HP:0001251
23474	ETHE1	Failure to thrive	HP:0001508
23474	ETHE1	Muscular hypotonia	HP:0001252
23474	ETHE1	Acrocyanosis	HP:0001063
23474	ETHE1	Cytochrome C oxidase-negative muscle fibers	HP:0003688
23474	ETHE1	Retinal vascular tortuosity	HP:0012841
23474	ETHE1	Chronic diarrhea	HP:0002028
23474	ETHE1	Abnormal retinal vascular morphology	HP:0008046
23474	ETHE1	Global developmental delay	HP:0001263
23474	ETHE1	Lactic acidosis	HP:0003128
80821	DDHD1	Abolished vibration sense	HP:0006944
80821	DDHD1	Pes cavus	HP:0001761
80821	DDHD1	Hyperreflexia	HP:0001347
80821	DDHD1	Juvenile onset	HP:0003621
80821	DDHD1	Autosomal recessive inheritance	HP:0000007
80821	DDHD1	Spastic paraplegia	HP:0001258
80821	DDHD1	Lower limb muscle weakness	HP:0007340
80821	DDHD1	Unsteady gait	HP:0002317
80821	DDHD1	Pain insensitivity	HP:0007021
80821	DDHD1	Lower limb spasticity	HP:0002061
80821	DDHD1	Impaired tactile sensation	HP:0010830
80821	DDHD1	Rigidity	HP:0002063
80821	DDHD1	Spastic gait	HP:0002064
80821	DDHD1	Difficulty walking	HP:0002355
80821	DDHD1	Peripheral axonal neuropathy	HP:0003477
80821	DDHD1	Distal sensory impairment	HP:0002936
80821	DDHD1	Scoliosis	HP:0002650
80821	DDHD1	Postural instability	HP:0002172
80821	DDHD1	Slow progression	HP:0003677
80821	DDHD1	Babinski sign	HP:0003487
23476	BRD4	Abnormality of the mediastinum	HP:0045026
23476	BRD4	Pancreatoblastoma	HP:0100757
23476	BRD4	Leukemia	HP:0001909
23476	BRD4	Oropharyngeal squamous cell carcinoma	HP:0012182
23476	BRD4	Ewing sarcoma	HP:0012254
23476	BRD4	Neuroblastoma	HP:0003006
23476	BRD4	Pancreatic squamous cell carcinoma	HP:0012142
7092	TLL1	Atrial fibrillation	HP:0005110
7092	TLL1	Autosomal dominant inheritance	HP:0000006
7092	TLL1	Bradycardia	HP:0001662
7092	TLL1	Atrial septal defect	HP:0001631
56244	BTNL2	Hypercalcemia	HP:0003072
56244	BTNL2	Portal hypertension	HP:0001409
56244	BTNL2	Facial palsy	HP:0010628
56244	BTNL2	Cataract	HP:0000518
56244	BTNL2	Chest pain	HP:0100749
56244	BTNL2	Abnormality of the gastrointestinal tract	HP:0011024
56244	BTNL2	Nephrolithiasis	HP:0000787
56244	BTNL2	Ventricular tachycardia	HP:0004756
56244	BTNL2	Abnormal cardiac ventricular function	HP:0030872
56244	BTNL2	Fever	HP:0001945
56244	BTNL2	Enlargement of parotid gland	HP:0011801
56244	BTNL2	Lymphadenopathy	HP:0002716
56244	BTNL2	Pulmonary fibrosis	HP:0002206
56244	BTNL2	Bone cyst	HP:0012062
56244	BTNL2	Weight loss	HP:0001824
56244	BTNL2	Uveitis	HP:0000554
56244	BTNL2	Dyspnea	HP:0002094
56244	BTNL2	Abnormality of the nasal mucosa	HP:0000433
56244	BTNL2	Emphysema	HP:0002097
56244	BTNL2	Heart block	HP:0012722
56244	BTNL2	Tubulointerstitial nephritis	HP:0001970
56244	BTNL2	Hypothyroidism	HP:0000821
56244	BTNL2	Enlarged lacrimal glands	HP:0007734
56244	BTNL2	Hemoptysis	HP:0002105
56244	BTNL2	Hyperpigmentation of the skin	HP:0000953
56244	BTNL2	Erythema nodosum	HP:0012219
56244	BTNL2	Pneumothorax	HP:0002107
56244	BTNL2	Alopecia	HP:0001596
56244	BTNL2	Bronchiectasis	HP:0002110
56244	BTNL2	Cough	HP:0012735
56244	BTNL2	Hepatomegaly	HP:0002240
56244	BTNL2	Abnormality of the adrenal glands	HP:0000834
56244	BTNL2	Abnormal liver parenchyma morphology	HP:0030146
56244	BTNL2	Hyperthyroidism	HP:0000836
56244	BTNL2	Chylothorax	HP:0010310
56244	BTNL2	Keratoconjunctivitis sicca	HP:0001097
56244	BTNL2	Parotitis	HP:0011850
56244	BTNL2	Subcutaneous nodule	HP:0001482
56244	BTNL2	Thrombocytopenia	HP:0001873
56244	BTNL2	Abnormal reproductive system morphology	HP:0012243
56244	BTNL2	Renal insufficiency	HP:0000083
56244	BTNL2	Hemolytic anemia	HP:0001878
56244	BTNL2	Eosinophilia	HP:0001880
56244	BTNL2	Scarring	HP:0100699
56244	BTNL2	Fatigue	HP:0012378
56244	BTNL2	Leukopenia	HP:0001882
56244	BTNL2	Increased T cell count	HP:0100828
56244	BTNL2	Upper airway obstruction	HP:0002781
56244	BTNL2	Skin plaque	HP:0200035
56244	BTNL2	Peripheral neuropathy	HP:0009830
56244	BTNL2	Hypercalciuria	HP:0002150
56244	BTNL2	Diabetes insipidus	HP:0000873
56244	BTNL2	Blindness	HP:0000618
56244	BTNL2	Increased CSF protein	HP:0002922
56244	BTNL2	Joint swelling	HP:0001386
56244	BTNL2	Dacryocystitis	HP:0000620
56244	BTNL2	Hypopigmentation of the skin	HP:0001010
56244	BTNL2	Proximal muscle weakness	HP:0003701
56244	BTNL2	Glaucoma	HP:0000501
56244	BTNL2	Hepatic failure	HP:0001399
56244	BTNL2	Nephrocalcinosis	HP:0000121
56244	BTNL2	Maculopapular exanthema	HP:0040186
56244	BTNL2	Hypothermia	HP:0002045
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
23479	ISCU	Rhabdomyolysis	HP:0003201
23479	ISCU	Myoglobinuria	HP:0002913
23479	ISCU	Muscle spasm	HP:0003394
23479	ISCU	Sideroblastic anemia	HP:0001924
23479	ISCU	Elevated serum creatine kinase	HP:0003236
23479	ISCU	Juvenile onset	HP:0003621
23479	ISCU	Increased serum lactate	HP:0002151
23479	ISCU	Autosomal recessive inheritance	HP:0000007
23479	ISCU	Palpitations	HP:0001962
23479	ISCU	Muscle weakness	HP:0001324
23479	ISCU	Dyspnea	HP:0002094
23479	ISCU	Increased intramyocellular lipid droplets	HP:0012240
23479	ISCU	Abnormal iron deposition in mitochondria	HP:0008306
23479	ISCU	Decreased activity of mitochondrial complex I	HP:0011923
23479	ISCU	Decreased activity of mitochondrial complex III	HP:0011924
23479	ISCU	Lactic acidosis	HP:0003128
23479	ISCU	Mitochondrial myopathy	HP:0003737
23479	ISCU	Exercise intolerance	HP:0003546
23479	ISCU	Decreased activity of mitochondrial complex II	HP:0008314
23479	ISCU	Subsarcolemmal accumulations of abnormally shaped mitochondria	HP:0003548
23479	ISCU	Myopathy	HP:0003198
23483	TGDS	Pectus carinatum	HP:0000768
23483	TGDS	Umbilical hernia	HP:0001537
23483	TGDS	Chronic otitis media	HP:0000389
23483	TGDS	Autosomal recessive inheritance	HP:0000007
23483	TGDS	Camptodactyly of finger	HP:0100490
23483	TGDS	Metatarsus valgus	HP:0010508
23483	TGDS	Coarctation of aorta	HP:0001680
23483	TGDS	Malar flattening	HP:0000272
23483	TGDS	Inguinal hernia	HP:0000023
23483	TGDS	Cryptorchidism	HP:0000028
23483	TGDS	Hyperphalangy of the 2nd finger	HP:0030368
23483	TGDS	Glossoptosis	HP:0000162
23483	TGDS	Full cheeks	HP:0000293
23483	TGDS	Abnormality of epiphysis morphology	HP:0005930
23483	TGDS	Oral synechia	HP:0010285
23483	TGDS	Cleft palate	HP:0000175
23483	TGDS	Single transverse palmar crease	HP:0000954
23483	TGDS	Hypertelorism	HP:0000316
23483	TGDS	Joint hyperflexibility	HP:0005692
23483	TGDS	Overriding aorta	HP:0002623
23483	TGDS	Postnatal growth retardation	HP:0008897
23483	TGDS	Ventriculomegaly	HP:0002119
23483	TGDS	Cleft upper lip	HP:0000204
23483	TGDS	Short neck	HP:0000470
23483	TGDS	High palate	HP:0000218
23483	TGDS	Scoliosis	HP:0002650
23483	TGDS	Micrognathia	HP:0000347
23483	TGDS	Cystic hygroma	HP:0000476
23483	TGDS	Joint dislocation	HP:0001373
23483	TGDS	Ventricular septal defect	HP:0001629
23483	TGDS	Atrial septal defect	HP:0001631
23483	TGDS	Camptodactyly	HP:0012385
23483	TGDS	Talipes equinovarus	HP:0001762
23483	TGDS	Seizures	HP:0001250
23483	TGDS	Short stature	HP:0004322
23483	TGDS	Failure to thrive	HP:0001508
23483	TGDS	Intrauterine growth retardation	HP:0001511
23483	TGDS	Joint stiffness	HP:0001387
23483	TGDS	Joint laxity	HP:0001388
23483	TGDS	Global developmental delay	HP:0001263
23483	TGDS	Low-set, posteriorly rotated ears	HP:0000368
23483	TGDS	Low-set ears	HP:0000369
23483	TGDS	Clinodactyly of the 5th finger	HP:0004209
23483	TGDS	Dextrocardia	HP:0001651
23483	TGDS	Ulnar deviation of the 2nd finger	HP:0009464
23483	TGDS	Abnormality of the pinna	HP:0000377
23483	TGDS	Highly arched eyebrow	HP:0002553
23483	TGDS	Radial deviation of the 2nd finger	HP:0009467
23483	TGDS	Pectus excavatum	HP:0000767
7099	TLR4	Abnormal blistering of the skin	HP:0008066
7099	TLR4	Avascular necrosis	HP:0010885
7099	TLR4	Cataract	HP:0000518
7099	TLR4	Myositis	HP:0100614
7099	TLR4	Meningitis	HP:0001287
7099	TLR4	Gait disturbance	HP:0001288
7099	TLR4	Confusion	HP:0001289
7099	TLR4	Arthralgia	HP:0002829
7099	TLR4	Vertigo	HP:0002321
7099	TLR4	Gangrene	HP:0100758
7099	TLR4	Fever	HP:0001945
7099	TLR4	Pleural effusion	HP:0002202
7099	TLR4	Oral ulcer	HP:0000155
7099	TLR4	Lymphadenopathy	HP:0002716
7099	TLR4	Pulmonary embolism	HP:0002204
7099	TLR4	Migraine	HP:0002076
7099	TLR4	Weight loss	HP:0001824
7099	TLR4	Acne	HP:0001061
7099	TLR4	Pericarditis	HP:0001701
7099	TLR4	Cranial nerve paralysis	HP:0006824
7099	TLR4	Retrobulbar optic neuritis	HP:0100654
7099	TLR4	Memory impairment	HP:0002354
7099	TLR4	Pleuritis	HP:0002102
7099	TLR4	Hemoptysis	HP:0002105
7099	TLR4	Orchitis	HP:0100796
7099	TLR4	Gastrointestinal hemorrhage	HP:0002239
7099	TLR4	Pulmonary infiltrates	HP:0002113
7099	TLR4	Hyperreflexia	HP:0001347
7099	TLR4	Arterial thrombosis	HP:0004420
7099	TLR4	Pancreatitis	HP:0001733
7099	TLR4	Venous thrombosis	HP:0004936
7099	TLR4	Developmental regression	HP:0002376
7099	TLR4	Vasculitis	HP:0002633
7099	TLR4	Paresthesia	HP:0003401
7099	TLR4	Keratoconjunctivitis sicca	HP:0001097
7099	TLR4	Subcutaneous nodule	HP:0001482
7099	TLR4	Cerebral ischemia	HP:0002637
7099	TLR4	Encephalitis	HP:0002383
7099	TLR4	Splenomegaly	HP:0001744
7099	TLR4	Renal insufficiency	HP:0000083
7099	TLR4	Increased intracranial pressure	HP:0002516
7099	TLR4	Glomerulopathy	HP:0100820
7099	TLR4	Abnormal pyramidal sign	HP:0007256
7099	TLR4	Arthritis	HP:0001369
7099	TLR4	Fatigue	HP:0012378
7099	TLR4	Irritability	HP:0000737
7099	TLR4	Nausea and vomiting	HP:0002017
7099	TLR4	Papule	HP:0200034
7099	TLR4	Seizures	HP:0001250
7099	TLR4	Recurrent aphthous stomatitis	HP:0011107
7099	TLR4	Ataxia	HP:0001251
7099	TLR4	Abnormal myocardium morphology	HP:0001637
7099	TLR4	Photophobia	HP:0000613
7099	TLR4	Immunologic hypersensitivity	HP:0100326
7099	TLR4	Malabsorption	HP:0002024
7099	TLR4	Retinopathy	HP:0000488
7099	TLR4	Endocarditis	HP:0100584
7099	TLR4	Blindness	HP:0000618
7099	TLR4	Abdominal pain	HP:0002027
7099	TLR4	Mitral regurgitation	HP:0001653
7099	TLR4	Hemiparesis	HP:0001269
7099	TLR4	Anorexia	HP:0002039
7099	TLR4	Myocardial infarction	HP:0001658
7099	TLR4	Aortic regurgitation	HP:0001659
7099	TLR4	Myalgia	HP:0003326
64446	DNAI2	Situs inversus totalis	HP:0001696
64446	DNAI2	Chronic rhinitis	HP:0002257
64446	DNAI2	Male infertility	HP:0003251
64446	DNAI2	Recurrent otitis media	HP:0000403
64446	DNAI2	Recurrent sinusitis	HP:0011108
64446	DNAI2	Autosomal recessive inheritance	HP:0000007
64446	DNAI2	Ciliary dyskinesia	HP:0012265
64446	DNAI2	Recurrent respiratory infections	HP:0002205
64446	DNAI2	Bronchiectasis	HP:0002110
7102	TSPAN7	Intellectual disability	HP:0001249
7102	TSPAN7	Intellectual disability, mild	HP:0001256
7102	TSPAN7	X-linked inheritance	HP:0001417
7102	TSPAN7	X-linked recessive inheritance	HP:0001419
375748	ERCC6L2	Thrombocytopenia	HP:0001873
375748	ERCC6L2	Neonatal hypotonia	HP:0001319
375748	ERCC6L2	Autosomal recessive inheritance	HP:0000007
375748	ERCC6L2	Bone marrow hypocellularity	HP:0005528
375748	ERCC6L2	Leukopenia	HP:0001882
375748	ERCC6L2	Microcephaly	HP:0000252
375748	ERCC6L2	Anemia	HP:0001903
56262	LRRC8A	Osteomyelitis	HP:0002754
56262	LRRC8A	Chronic otitis media	HP:0000389
56262	LRRC8A	Autosomal dominant inheritance	HP:0000006
56262	LRRC8A	Meningitis	HP:0001287
56262	LRRC8A	Sepsis	HP:0100806
56262	LRRC8A	Agammaglobulinemia	HP:0004432
56262	LRRC8A	Neutropenia	HP:0001875
56262	LRRC8A	Hepatitis	HP:0012115
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
23495	TNFRSF13B	Hepatomegaly	HP:0002240
23495	TNFRSF13B	Recurrent pneumonia	HP:0006532
23495	TNFRSF13B	Chronic otitis media	HP:0000389
23495	TNFRSF13B	Autosomal dominant inheritance	HP:0000006
23495	TNFRSF13B	Meningitis	HP:0001287
23495	TNFRSF13B	Autosomal recessive inheritance	HP:0000007
23495	TNFRSF13B	Vasculitis	HP:0002633
23495	TNFRSF13B	Arthralgia	HP:0002829
23495	TNFRSF13B	Autoimmunity	HP:0002960
23495	TNFRSF13B	Splenomegaly	HP:0001744
23495	TNFRSF13B	Recurrent otitis media	HP:0000403
23495	TNFRSF13B	Purpura	HP:0000979
23495	TNFRSF13B	Recurrent bronchitis	HP:0002837
23495	TNFRSF13B	Hemolytic anemia	HP:0001878
23495	TNFRSF13B	Decreased antibody level in blood	HP:0004313
23495	TNFRSF13B	Decreased circulating IgG level	HP:0004315
23495	TNFRSF13B	Lymphadenopathy	HP:0002716
23495	TNFRSF13B	Diarrhea	HP:0002014
23495	TNFRSF13B	Recurrent bacterial infections	HP:0002718
23495	TNFRSF13B	Elevated hepatic transaminase	HP:0002910
23495	TNFRSF13B	Decreased circulating IgA level	HP:0002720
23495	TNFRSF13B	Lymphopenia	HP:0001888
23495	TNFRSF13B	Immunodeficiency	HP:0002721
23495	TNFRSF13B	Decreased circulating total IgM	HP:0002850
23495	TNFRSF13B	Recurrent sinusitis	HP:0011108
23495	TNFRSF13B	Anal atresia	HP:0002023
23495	TNFRSF13B	Neoplasm	HP:0002664
23495	TNFRSF13B	Lymphoma	HP:0002665
23495	TNFRSF13B	Follicular hyperplasia	HP:0002729
23495	TNFRSF13B	Pneumonia	HP:0002090
23495	TNFRSF13B	Restrictive ventilatory defect	HP:0002091
23495	TNFRSF13B	Abnormal lymphocyte morphology	HP:0004332
23495	TNFRSF13B	Recurrent sinopulmonary infections	HP:0005425
23495	TNFRSF13B	Emphysema	HP:0002097
23495	TNFRSF13B	Gastrointestinal stroma tumor	HP:0100723
23495	TNFRSF13B	Autoimmune thrombocytopenia	HP:0001973
23495	TNFRSF13B	Brachycephaly	HP:0000248
23495	TNFRSF13B	Impaired T cell function	HP:0005435
23495	TNFRSF13B	Failure to thrive in infancy	HP:0001531
23495	TNFRSF13B	Conjunctivitis	HP:0000509
23495	TNFRSF13B	Recurrent infection of the gastrointestinal tract	HP:0004798
23495	TNFRSF13B	Bronchiectasis	HP:0002110
23495	TNFRSF13B	Posterior pharyngeal cleft	HP:0006783
7112	TMPO	EMG abnormality	HP:0003457
7112	TMPO	Abnormality of neutrophils	HP:0001874
7112	TMPO	Lipoatrophy	HP:0100578
7112	TMPO	Elevated serum creatine kinase	HP:0003236
7112	TMPO	Palmoplantar keratoderma	HP:0000982
7112	TMPO	Sensorineural hearing impairment	HP:0000407
7112	TMPO	Dilated cardiomyopathy	HP:0001644
7112	TMPO	Myopathy	HP:0003198
23498	HAAO	Tethered cord	HP:0002144
23498	HAAO	Intellectual disability	HP:0001249
23498	HAAO	Bifid uvula	HP:0000193
23498	HAAO	Absence of the sacrum	HP:0010305
23498	HAAO	Hypoplastic sacrum	HP:0004590
23498	HAAO	Global developmental delay	HP:0001263
23498	HAAO	Cleft palate	HP:0000175
23498	HAAO	Aortic valve stenosis	HP:0001650
23498	HAAO	Laryngotracheomalacia	HP:0008755
23498	HAAO	Butterfly vertebrae	HP:0003316
23498	HAAO	Mitral stenosis	HP:0001718
23498	HAAO	Spinal dysraphism	HP:0010301
23498	HAAO	Laryngeal web	HP:0005950
23498	HAAO	Atrial septal defect	HP:0001631
23498	HAAO	Hypoplastic left heart	HP:0004383
113612	CYP2U1	Intellectual disability	HP:0001249
113612	CYP2U1	Autosomal recessive inheritance	HP:0000007
113612	CYP2U1	Spastic paraplegia	HP:0001258
113612	CYP2U1	Unsteady gait	HP:0002317
113612	CYP2U1	Global developmental delay	HP:0001263
113612	CYP2U1	Spastic gait	HP:0002064
113612	CYP2U1	Toe walking	HP:0040083
113612	CYP2U1	Variable expressivity	HP:0003828
113612	CYP2U1	Dystonia	HP:0001332
113612	CYP2U1	Peripheral axonal neuropathy	HP:0003477
113612	CYP2U1	Abnormal globus pallidus morphology	HP:0002453
113612	CYP2U1	Motor delay	HP:0001270
113612	CYP2U1	Basal ganglia calcification	HP:0002135
113612	CYP2U1	Lower limb hyperreflexia	HP:0002395
113612	CYP2U1	Cognitive impairment	HP:0100543
113612	CYP2U1	Hypoplasia of the corpus callosum	HP:0002079
113612	CYP2U1	Babinski sign	HP:0003487
56270	WDR45B	Absent speech	HP:0001344
56270	WDR45B	Ventriculomegaly	HP:0002119
56270	WDR45B	Cerebral hypoplasia	HP:0006872
56270	WDR45B	Infantile onset	HP:0003593
56270	WDR45B	Spastic paraplegia	HP:0001258
56270	WDR45B	Intellectual disability, profound	HP:0002187
56270	WDR45B	Inability to walk	HP:0002540
56270	WDR45B	Progressive	HP:0003676
56270	WDR45B	Hypoplasia of the corpus callosum	HP:0002079
23503	ZFYVE26	Saccadic smooth pursuit	HP:0001152
23503	ZFYVE26	Pigmentary retinopathy	HP:0000580
23503	ZFYVE26	Behavioral abnormality	HP:0000708
23503	ZFYVE26	Demyelinating peripheral neuropathy	HP:0007108
23503	ZFYVE26	Psychosis	HP:0000709
23503	ZFYVE26	Autosomal recessive inheritance	HP:0000007
23503	ZFYVE26	Gait disturbance	HP:0001288
23503	ZFYVE26	Functional abnormality of the bladder	HP:0000009
23503	ZFYVE26	Leg muscle stiffness	HP:0008969
23503	ZFYVE26	Hand tremor	HP:0002378
23503	ZFYVE26	Upper limb spasticity	HP:0006986
23503	ZFYVE26	Urinary urgency	HP:0000012
23503	ZFYVE26	Lower limb spasticity	HP:0002061
23503	ZFYVE26	Retinal flecks	HP:0012045
23503	ZFYVE26	Spastic gait	HP:0002064
23503	ZFYVE26	Mood swings	HP:0000720
23503	ZFYVE26	Urinary incontinence	HP:0000020
23503	ZFYVE26	Peripheral axonal neuropathy	HP:0003477
23503	ZFYVE26	Urinary bladder sphincter dysfunction	HP:0002839
23503	ZFYVE26	Abnormality of extrapyramidal motor function	HP:0002071
23503	ZFYVE26	Lower limb hyperreflexia	HP:0002395
23503	ZFYVE26	Progressive	HP:0003676
23503	ZFYVE26	Upper limb muscle weakness	HP:0003484
23503	ZFYVE26	Babinski sign	HP:0003487
23503	ZFYVE26	Hypoplasia of the corpus callosum	HP:0002079
23503	ZFYVE26	Macular degeneration	HP:0000608
23503	ZFYVE26	Intellectual disability	HP:0001249
23503	ZFYVE26	Pes cavus	HP:0001761
23503	ZFYVE26	Frontotemporal dementia	HP:0002145
23503	ZFYVE26	Seizures	HP:0001250
23503	ZFYVE26	Ataxia	HP:0001251
23503	ZFYVE26	Abnormal cerebellum morphology	HP:0001317
23503	ZFYVE26	Spastic paraplegia	HP:0001258
23503	ZFYVE26	Dysarthria	HP:0001260
23503	ZFYVE26	Lower limb muscle weakness	HP:0007340
23503	ZFYVE26	Deep cerebral white matter hyperdensities	HP:0030892
23503	ZFYVE26	Distal amyotrophy	HP:0003693
23503	ZFYVE26	Reduced visual acuity	HP:0007663
23503	ZFYVE26	Bowel incontinence	HP:0002607
23503	ZFYVE26	Specific learning disability	HP:0001328
23503	ZFYVE26	Pseudobulbar paralysis	HP:0007024
23503	ZFYVE26	Diabetes mellitus	HP:0000819
23503	ZFYVE26	Clonus	HP:0002169
23503	ZFYVE26	Visual impairment	HP:0000505
23503	ZFYVE26	Nystagmus	HP:0000639
23503	ZFYVE26	Impaired vibratory sensation	HP:0002495
23509	POFUT1	Hyperkeratotic papule	HP:0045059
23509	POFUT1	Reticular hyperpigmentation	HP:0007588
23509	POFUT1	Autosomal dominant inheritance	HP:0000006
23509	POFUT1	Hypomelanotic macule	HP:0009719
23509	POFUT1	Follicular hyperkeratosis	HP:0007502
7128	TNFAIP3	Lymphopenia	HP:0001888
7128	TNFAIP3	Recurrent 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
23512	SUZ12	Macrocephaly	HP:0000256
23512	SUZ12	Hypoplastic toenails	HP:0001800
23512	SUZ12	Hoarse voice	HP:0001609
23512	SUZ12	Camptodactyly of finger	HP:0100490
23512	SUZ12	Abnormal fingernail morphology	HP:0001231
23512	SUZ12	Macrotia	HP:0000400
23512	SUZ12	Broad forehead	HP:0000337
23512	SUZ12	Deep philtrum	HP:0002002
23512	SUZ12	Finger syndactyly	HP:0006101
23512	SUZ12	Deep-set nails	HP:0001814
23512	SUZ12	Retrognathia	HP:0000278
23512	SUZ12	Long philtrum	HP:0000343
23512	SUZ12	Inguinal hernia	HP:0000023
23512	SUZ12	Thin nail	HP:0001816
23512	SUZ12	Abnormality of cardiovascular system morphology	HP:0030680
23512	SUZ12	Large hands	HP:0001176
23512	SUZ12	Scoliosis	HP:0002650
23512	SUZ12	Micrognathia	HP:0000347
23512	SUZ12	Cryptorchidism	HP:0000028
23512	SUZ12	Hypoplasia of penis	HP:0008736
23512	SUZ12	Pes cavus	HP:0001761
23512	SUZ12	Intellectual disability	HP:0001249
23512	SUZ12	Talipes equinovarus	HP:0001762
23512	SUZ12	Tall stature	HP:0000098
23512	SUZ12	Fine hair	HP:0002213
23512	SUZ12	Feeding difficulties in infancy	HP:0008872
23512	SUZ12	Broad thumb	HP:0011304
23512	SUZ12	Spasticity	HP:0001257
23512	SUZ12	Broad foot	HP:0001769
23512	SUZ12	Joint stiffness	HP:0001387
23512	SUZ12	Redundant skin	HP:0001582
23512	SUZ12	Downslanted palpebral fissures	HP:0000494
23512	SUZ12	Global developmental delay	HP:0001263
23512	SUZ12	Low-set, posteriorly rotated ears	HP:0000368
23512	SUZ12	Abnormality of the metaphysis	HP:0000944
23512	SUZ12	Accelerated skeletal maturation	HP:0005616
23512	SUZ12	Round face	HP:0000311
23512	SUZ12	Joint hyperflexibility	HP:0005692
23512	SUZ12	Hypertelorism	HP:0000316
23512	SUZ12	Abnormally low-pitched voice	HP:0010300
23512	SUZ12	Sandal gap	HP:0001852
80856	LNPK	Hyperactivity	HP:0000752
80856	LNPK	Absent speech	HP:0001344
80856	LNPK	Cerebellar atrophy	HP:0001272
80856	LNPK	Tremor	HP:0001337
80856	LNPK	Generalized myoclonic seizures	HP:0002123
80856	LNPK	Inability to walk	HP:0002540
80856	LNPK	Dysmetria	HP:0001310
80856	LNPK	Global developmental delay	HP:0001263
80856	LNPK	Rigidity	HP:0002063
80856	LNPK	Hypoplasia of the corpus callosum	HP:0002079
23514	SPIDR	Streak ovary	HP:0010464
23514	SPIDR	Short stature	HP:0004322
23514	SPIDR	Ataxia	HP:0001251
23514	SPIDR	Secondary amenorrhea	HP:0000869
23514	SPIDR	Increased circulating gonadotropin level	HP:0000837
23514	SPIDR	Gonadal dysgenesis	HP:0000133
23514	SPIDR	Aplasia/Hypoplasia of the breasts	HP:0010311
23514	SPIDR	Osteopenia	HP:0000938
23514	SPIDR	Aplasia/hypoplasia of the uterus	HP:0008684
23514	SPIDR	Hearing impairment	HP:0000365
23514	SPIDR	Arachnodactyly	HP:0001166
23514	SPIDR	Decreased fertility	HP:0000144
23514	SPIDR	Premature ovarian insufficiency	HP:0008209
23514	SPIDR	Sparse pubic hair	HP:0002225
23514	SPIDR	Primary amenorrhea	HP:0000786
23514	SPIDR	Abnormality of metabolism/homeostasis	HP:0001939
23514	SPIDR	Decreased serum estradiol	HP:0008214
23514	SPIDR	Delayed puberty	HP:0000823
23514	SPIDR	Osteoporosis of vertebrae	HP:0005625
23514	SPIDR	Microcephaly	HP:0000252
23514	SPIDR	Pulmonary fibrosis	HP:0002206
23514	SPIDR	Delayed skeletal maturation	HP:0002750
23516	SLC39A14	Hyperostosis cranialis interna	HP:0005890
23516	SLC39A14	Facial palsy	HP:0010628
23516	SLC39A14	Epiphora	HP:0009926
23516	SLC39A14	Autosomal dominant inheritance	HP:0000006
23516	SLC39A14	Autosomal recessive inheritance	HP:0000007
23516	SLC39A14	Proptosis	HP:0000520
23516	SLC39A14	Optic atrophy	HP:0000648
23516	SLC39A14	Developmental regression	HP:0002376
23516	SLC39A14	Gait disturbance	HP:0001288
23516	SLC39A14	Mastoiditis	HP:0000265
23516	SLC39A14	Calvarial hyperostosis	HP:0004490
23516	SLC39A14	Cerebral atrophy	HP:0002059
23516	SLC39A14	Oromandibular dystonia	HP:0012048
23516	SLC39A14	Bradykinesia	HP:0002067
23516	SLC39A14	Parkinsonism	HP:0001300
23516	SLC39A14	Vestibular dysfunction	HP:0001751
23516	SLC39A14	Sensorineural hearing impairment	HP:0000407
23516	SLC39A14	Ocular pain	HP:0200026
23516	SLC39A14	Scoliosis	HP:0002650
23516	SLC39A14	Flexion contracture	HP:0001371
23516	SLC39A14	Progressive	HP:0003676
23516	SLC39A14	Babinski sign	HP:0003487
23516	SLC39A14	Intellectual disability	HP:0001249
23516	SLC39A14	Ocular hypertension	HP:0007906
23516	SLC39A14	Tinnitus	HP:0000360
23516	SLC39A14	Muscular hypotonia of the trunk	HP:0008936
23516	SLC39A14	Spasticity	HP:0001257
23516	SLC39A14	Postnatal microcephaly	HP:0005484
23516	SLC39A14	Reduced visual acuity	HP:0007663
23516	SLC39A14	Global developmental delay	HP:0001263
23516	SLC39A14	Osteosclerosis of the base of the skull	HP:0005746
23516	SLC39A14	Cerebellar atrophy	HP:0001272
23516	SLC39A14	Ankle clonus	HP:0011448
23516	SLC39A14	Tremor	HP:0001337
23516	SLC39A14	Arnold-Chiari type I malformation	HP:0007099
7132	TNFRSF1A	Behavioral abnormality	HP:0000708
7132	TNFRSF1A	Autosomal dominant inheritance	HP:0000006
7132	TNFRSF1A	Myositis	HP:0100614
7132	TNFRSF1A	Edema	HP:0000969
7132	TNFRSF1A	Paresthesia	HP:0003401
7132	TNFRSF1A	Vasculitis	HP:0002633
7132	TNFRSF1A	Hypermelanotic macule	HP:0001034
7132	TNFRSF1A	Chest pain	HP:0100749
7132	TNFRSF1A	Arthralgia	HP:0002829
7132	TNFRSF1A	Splenomegaly	HP:0001744
7132	TNFRSF1A	Vertigo	HP:0002321
7132	TNFRSF1A	Bruising susceptibility	HP:0000978
7132	TNFRSF1A	Arthritis	HP:0001369
7132	TNFRSF1A	Amyloidosis	HP:0011034
7132	TNFRSF1A	Peritonitis	HP:0002586
7132	TNFRSF1A	Elevated C-reactive protein level	HP:0011227
7132	TNFRSF1A	Skin rash	HP:0000988
7132	TNFRSF1A	Migraine	HP:0002076
7132	TNFRSF1A	Lymphadenopathy	HP:0002716
7132	TNFRSF1A	Vomiting	HP:0002013
7132	TNFRSF1A	Diarrhea	HP:0002014
7132	TNFRSF1A	Intestinal obstruction	HP:0005214
7132	TNFRSF1A	Erysipelas	HP:0001055
7132	TNFRSF1A	Erythema	HP:0010783
7132	TNFRSF1A	Muscle stiffness	HP:0003552
7132	TNFRSF1A	Recurrent fever	HP:0001954
7132	TNFRSF1A	Constipation	HP:0002019
7132	TNFRSF1A	Pericarditis	HP:0001701
7132	TNFRSF1A	Abnormal myocardium morphology	HP:0001637
7132	TNFRSF1A	Cranial nerve paralysis	HP:0006824
7132	TNFRSF1A	Conjunctival hyperemia	HP:0030953
7132	TNFRSF1A	Recurrent pharyngitis	HP:0100776
7132	TNFRSF1A	Uveitis	HP:0000554
7132	TNFRSF1A	Abdominal pain	HP:0002027
7132	TNFRSF1A	Abnormality of the sacroiliac joint	HP:0100781
7132	TNFRSF1A	Elevated erythrocyte sedimentation rate	HP:0003565
7132	TNFRSF1A	Cellulitis	HP:0100658
7132	TNFRSF1A	Pleuritis	HP:0002102
7132	TNFRSF1A	Leukocytosis	HP:0001974
7132	TNFRSF1A	Hepatic amyloidosis	HP:0012280
7132	TNFRSF1A	Fasciitis	HP:0100537
7132	TNFRSF1A	Periorbital edema	HP:0100539
7132	TNFRSF1A	Orchitis	HP:0100796
7132	TNFRSF1A	Conjunctivitis	HP:0000509
7132	TNFRSF1A	Myalgia	HP:0003326
7133	TNFRSF1B	Hepatomegaly	HP:0002240
7133	TNFRSF1B	Skeletal muscle atrophy	HP:0003202
7133	TNFRSF1B	Hyperkeratosis	HP:0000962
7133	TNFRSF1B	Eczema	HP:0000964
7133	TNFRSF1B	Neoplasm of the skin	HP:0008069
7133	TNFRSF1B	Poikiloderma	HP:0001029
7133	TNFRSF1B	Edema	HP:0000969
7133	TNFRSF1B	Abnormal immunoglobulin level	HP:0010701
7133	TNFRSF1B	Abnormal facial shape	HP:0001999
7133	TNFRSF1B	Splenomegaly	HP:0001744
7133	TNFRSF1B	Ectropion	HP:0000656
7133	TNFRSF1B	Nail dystrophy	HP:0008404
7133	TNFRSF1B	Palmoplantar keratoderma	HP:0000982
7133	TNFRSF1B	Gangrene	HP:0100758
7133	TNFRSF1B	Lymphadenopathy	HP:0002716
7133	TNFRSF1B	Skin rash	HP:0000988
7133	TNFRSF1B	Pruritus	HP:0000989
7133	TNFRSF1B	Hypopigmented skin patches	HP:0001053
7133	TNFRSF1B	Erythema	HP:0010783
7133	TNFRSF1B	Cutaneous T-cell lymphoma	HP:0012192
7133	TNFRSF1B	Skin plaque	HP:0200035
7133	TNFRSF1B	Immunodeficiency	HP:0002721
7133	TNFRSF1B	Peripheral neuropathy	HP:0009830
7133	TNFRSF1B	Irregular hyperpigmentation	HP:0007400
7133	TNFRSF1B	Skin ulcer	HP:0200042
7133	TNFRSF1B	Abnormal lymphocyte morphology	HP:0004332
7133	TNFRSF1B	Abnormal eyelid morphology	HP:0000492
7133	TNFRSF1B	Lichenification	HP:0100725
7133	TNFRSF1B	Abnormality of the pleura	HP:0002103
7133	TNFRSF1B	Tremor	HP:0001337
7133	TNFRSF1B	Abnormality of bone marrow cell morphology	HP:0005561
7133	TNFRSF1B	Erythroderma	HP:0001019
7133	TNFRSF1B	Alopecia	HP:0001596
7133	TNFRSF1B	Abnormality of the nail	HP:0001597
7133	TNFRSF1B	Dry skin	HP:0000958
7134	TNNC1	Right bundle branch block	HP:0011712
7134	TNNC1	EMG abnormality	HP:0003457
7134	TNNC1	Lipoatrophy	HP:0100578
7134	TNNC1	Biventricular hypertrophy	HP:0200128
7134	TNNC1	Elevated serum creatine kinase	HP:0003236
7134	TNNC1	Autosomal dominant inheritance	HP:0000006
7134	TNNC1	Hypertrophic cardiomyopathy	HP:0001639
7134	TNNC1	Dilated cardiomyopathy	HP:0001644
7134	TNNC1	Chest pain	HP:0100749
7134	TNNC1	Dyspnea	HP:0002094
7134	TNNC1	Abnormality of neutrophils	HP:0001874
7134	TNNC1	Palmoplantar keratoderma	HP:0000982
7134	TNNC1	Atrial fibrillation	HP:0005110
7134	TNNC1	Sensorineural hearing impairment	HP:0000407
7134	TNNC1	ST segment depression	HP:0012250
7134	TNNC1	Myopathy	HP:0003198
7134	TNNC1	Syncope	HP:0001279
7134	TNNC1	Left anterior fascicular block	HP:0011711
7134	TNNC1	Ventricular fibrillation	HP:0001663
7136	TNNI2	Triangular face	HP:0000325
7136	TNNI2	Autosomal dominant inheritance	HP:0000006
7136	TNNI2	Abnormality of the hip bone	HP:0003272
7136	TNNI2	Camptodactyly of finger	HP:0100490
7136	TNNI2	Webbed neck	HP:0000465
7136	TNNI2	Narrow face	HP:0000275
7136	TNNI2	Abnormality of the ear	HP:0000598
7136	TNNI2	Short neck	HP:0000470
7136	TNNI2	Long philtrum	HP:0000343
7136	TNNI2	Prominent nasolabial fold	HP:0005272
7136	TNNI2	Scoliosis	HP:0002650
7136	TNNI2	High palate	HP:0000218
7136	TNNI2	Micrognathia	HP:0000347
7136	TNNI2	Talipes	HP:0001883
7136	TNNI2	Protruding ear	HP:0000411
7136	TNNI2	Absent phalangeal crease	HP:0006109
7136	TNNI2	Adducted thumb	HP:0001181
7136	TNNI2	Vertebral segmentation defect	HP:0003422
7136	TNNI2	Round ear	HP:0100830
7136	TNNI2	Narrow mouth	HP:0000160
7136	TNNI2	Short stature	HP:0004322
7136	TNNI2	Talipes equinovarus	HP:0001762
7136	TNNI2	Aplasia/Hypoplasia of the radius	HP:0006501
7136	TNNI2	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
7136	TNNI2	Ulnar deviation of the wrist	HP:0003049
7136	TNNI2	Joint stiffness	HP:0001387
7136	TNNI2	Rocker bottom foot	HP:0001838
7136	TNNI2	Downslanted palpebral fissures	HP:0000494
7136	TNNI2	Bilateral single transverse palmar creases	HP:0007598
7136	TNNI2	Wide nasal bridge	HP:0000431
7136	TNNI2	Mandibular prognathia	HP:0000303
7136	TNNI2	Metatarsus adductus	HP:0001840
7136	TNNI2	Tarsal synostosis	HP:0008368
7136	TNNI2	Distal arthrogryposis	HP:0005684
7136	TNNI2	Arthrogryposis multiplex congenita	HP:0002804
7136	TNNI2	Calcaneovalgus deformity	HP:0001848
7136	TNNI2	Ulnar deviation of finger	HP:0009465
7136	TNNI2	Overlapping fingers	HP:0010557
7137	TNNI3	EMG abnormality	HP:0003457
7137	TNNI3	Lipoatrophy	HP:0100578
7137	TNNI3	Congestive heart failure	HP:0001635
7137	TNNI3	Elevated serum creatine kinase	HP:0003236
7137	TNNI3	Juvenile onset	HP:0003621
7137	TNNI3	Autosomal dominant inheritance	HP:0000006
7137	TNNI3	Cardiomyopathy	HP:0001638
7137	TNNI3	Young adult onset	HP:0011462
7137	TNNI3	Ventriculomegaly	HP:0002119
7137	TNNI3	Autosomal recessive inheritance	HP:0000007
7137	TNNI3	Dilated cardiomyopathy	HP:0001644
7137	TNNI3	Sudden cardiac death	HP:0001645
7137	TNNI3	Left ventricular hypertrophy	HP:0001712
7137	TNNI3	Heterogeneous	HP:0001425
7137	TNNI3	Ventricular hypertrophy	HP:0001714
7137	TNNI3	Abnormality of neutrophils	HP:0001874
7137	TNNI3	Atrial fibrillation	HP:0005110
7137	TNNI3	Palmoplantar keratoderma	HP:0000982
7137	TNNI3	Sensorineural hearing impairment	HP:0000407
7137	TNNI3	Restrictive cardiomyopathy	HP:0001723
7137	TNNI3	Myopathy	HP:0003198
7137	TNNI3	Left atrial enlargement	HP:0031295
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	Generalized hypotonia	HP:0001290
23522	KAT6B	Abnormality of the antihelix	HP:0009738
23522	KAT6B	Psychomotor retardation	HP:0025356
23522	KAT6B	Prominent occiput	HP:0000269
23522	KAT6B	Enlarged thorax	HP:0100625
23522	KAT6B	Retrognathia	HP:0000278
23522	KAT6B	Coarse facial features	HP:0000280
23522	KAT6B	Midface retrusion	HP:0011800
23522	KAT6B	Polyhydramnios	HP:0001561
23522	KAT6B	Epicanthus inversus	HP:0000537
23522	KAT6B	Cryptorchidism	HP:0000028
23522	KAT6B	Atrioventricular canal defect	HP:0006695
23522	KAT6B	Pulmonary hypoplasia	HP:0002089
23522	KAT6B	Neoplasm of the tongue	HP:0100648
23522	KAT6B	Patellar aplasia	HP:0006443
23522	KAT6B	Hypogonadotrophic hypogonadism	HP:0000044
23522	KAT6B	Muscle weakness	HP:0001324
23522	KAT6B	Scrotal hypoplasia	HP:0000046
23522	KAT6B	Specific learning disability	HP:0001328
23522	KAT6B	Hypothyroidism	HP:0000821
23522	KAT6B	Abnormal dermatoglyphics	HP:0007477
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	Blepharophimosis	HP:0000581
23522	KAT6B	Triangular face	HP:0000325
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	Ventricular septal defect	HP:0001629
23522	KAT6B	Abnormal platelet function	HP:0011869
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	Thyroid hypoplasia	HP:0005990
23522	KAT6B	Abnormal nasolacrimal system morphology	HP:0000614
23522	KAT6B	Posteriorly rotated ears	HP:0000358
23522	KAT6B	Hypoplastic ischia	HP:0003175
23522	KAT6B	Abnormal pulmonary valve morphology	HP:0001641
23522	KAT6B	Patent ductus arteriosus	HP:0001643
23522	KAT6B	Dilated cardiomyopathy	HP:0001644
23522	KAT6B	Hearing impairment	HP:0000365
23522	KAT6B	Low-set, posteriorly rotated ears	HP:0000368
23522	KAT6B	Intellectual disability, severe	HP:0010864
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	Long nose	HP:0003189
23522	KAT6B	Aplasia of the semicircular canal	HP:0011381
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	Depressed nasal bridge	HP:0005280
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	Microdontia	HP:0000691
23522	KAT6B	Severe short stature	HP:0003510
23522	KAT6B	Patellar dislocation	HP:0002999
23522	KAT6B	Short palm	HP:0004279
23522	KAT6B	Wide nose	HP:0000445
23522	KAT6B	Ectopic thyroid	HP:0100028
23522	KAT6B	Delayed skeletal maturation	HP:0002750
23522	KAT6B	Prominent nose	HP:0000448
23522	KAT6B	Feeding difficulties	HP:0011968
23522	KAT6B	Hepatomegaly	HP:0002240
23522	KAT6B	Bifid uvula	HP:0000193
23522	KAT6B	Hip contracture	HP:0003273
23522	KAT6B	Short palpebral fissure	HP:0012745
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	Thickened nuchal skin fold	HP:0000474
23522	KAT6B	High palate	HP:0000218
23522	KAT6B	Cystic hygroma	HP:0000476
23522	KAT6B	Dysphagia	HP:0002015
23522	KAT6B	Intellectual disability	HP:0001249
23522	KAT6B	Talipes equinovarus	HP:0001762
23522	KAT6B	Seizures	HP:0001250
23522	KAT6B	Short stature	HP:0004322
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	Knee flexion contracture	HP:0006380
23522	KAT6B	Dysarthria	HP:0001260
23522	KAT6B	Lymphedema	HP:0001004
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	Motor delay	HP:0001270
23522	KAT6B	Agenesis of corpus callosum	HP:0001274
23522	KAT6B	Microcephaly	HP:0000252
23522	KAT6B	Ptosis	HP:0000508
23522	KAT6B	Periventricular heterotopia	HP:0007165
23522	KAT6B	Thyroid agenesis	HP:0008191
23522	KAT6B	Pectus excavatum	HP:0000767
7138	TNNT1	Pectus carinatum	HP:0000768
7138	TNNT1	EMG: myopathic abnormalities	HP:0003458
7138	TNNT1	Shoulder flexion contracture	HP:0003044
7138	TNNT1	Autosomal recessive inheritance	HP:0000007
7138	TNNT1	Neonatal hypotonia	HP:0001319
7138	TNNT1	Infantile onset	HP:0003593
7138	TNNT1	Hip contracture	HP:0003273
7138	TNNT1	Abnormality of the rib cage	HP:0001547
7138	TNNT1	Respiratory insufficiency	HP:0002093
7138	TNNT1	Rigidity	HP:0002063
7138	TNNT1	Decreased hip abduction	HP:0003184
7138	TNNT1	Delayed gross motor development	HP:0002194
7138	TNNT1	Nemaline bodies	HP:0003798
7138	TNNT1	Proximal amyotrophy	HP:0007126
7138	TNNT1	Motor delay	HP:0001270
7138	TNNT1	Tremor	HP:0001337
7138	TNNT1	Progressive muscle weakness	HP:0003323
7138	TNNT1	Type 1 muscle fiber predominance	HP:0003803
7138	TNNT1	Respiratory insufficiency due to muscle weakness	HP:0002747
7138	TNNT1	Myopathy	HP:0003198
7139	TNNT2	EMG abnormality	HP:0003457
7139	TNNT2	Lipoatrophy	HP:0100578
7139	TNNT2	Congestive heart failure	HP:0001635
7139	TNNT2	Sudden death	HP:0001699
7139	TNNT2	Elevated serum creatine kinase	HP:0003236
7139	TNNT2	Cardiomyopathy	HP:0001638
7139	TNNT2	Autosomal dominant inheritance	HP:0000006
7139	TNNT2	Hypertrophic cardiomyopathy	HP:0001639
7139	TNNT2	Dilated cardiomyopathy	HP:0001644
7139	TNNT2	Left ventricular hypertrophy	HP:0001712
7139	TNNT2	Abnormality of neutrophils	HP:0001874
7139	TNNT2	Palmoplantar keratoderma	HP:0000982
7139	TNNT2	Atrial fibrillation	HP:0005110
7139	TNNT2	Sensorineural hearing impairment	HP:0000407
7139	TNNT2	Left ventricular noncompaction	HP:0030682
7139	TNNT2	Myopathy	HP:0003198
7140	TNNT3	Triangular face	HP:0000325
7140	TNNT3	Autosomal dominant inheritance	HP:0000006
7140	TNNT3	Abnormality of the hip bone	HP:0003272
7140	TNNT3	Camptodactyly of finger	HP:0100490
7140	TNNT3	Webbed neck	HP:0000465
7140	TNNT3	Narrow face	HP:0000275
7140	TNNT3	Abnormality of the ear	HP:0000598
7140	TNNT3	Short neck	HP:0000470
7140	TNNT3	Long philtrum	HP:0000343
7140	TNNT3	Prominent nasolabial fold	HP:0005272
7140	TNNT3	Scoliosis	HP:0002650
7140	TNNT3	High palate	HP:0000218
7140	TNNT3	Micrognathia	HP:0000347
7140	TNNT3	Talipes	HP:0001883
7140	TNNT3	Protruding ear	HP:0000411
7140	TNNT3	Absent phalangeal crease	HP:0006109
7140	TNNT3	Adducted thumb	HP:0001181
7140	TNNT3	Vertebral segmentation defect	HP:0003422
7140	TNNT3	Round ear	HP:0100830
7140	TNNT3	Narrow mouth	HP:0000160
7140	TNNT3	Short stature	HP:0004322
7140	TNNT3	Talipes equinovarus	HP:0001762
7140	TNNT3	Aplasia/Hypoplasia of the radius	HP:0006501
7140	TNNT3	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
7140	TNNT3	Ulnar deviation of the wrist	HP:0003049
7140	TNNT3	Joint stiffness	HP:0001387
7140	TNNT3	Rocker bottom foot	HP:0001838
7140	TNNT3	Downslanted palpebral fissures	HP:0000494
7140	TNNT3	Bilateral single transverse palmar creases	HP:0007598
7140	TNNT3	Wide nasal bridge	HP:0000431
7140	TNNT3	Mandibular prognathia	HP:0000303
7140	TNNT3	Metatarsus adductus	HP:0001840
7140	TNNT3	Tarsal synostosis	HP:0008368
7140	TNNT3	Distal arthrogryposis	HP:0005684
7140	TNNT3	Arthrogryposis multiplex congenita	HP:0002804
7140	TNNT3	Calcaneovalgus deformity	HP:0001848
7140	TNNT3	Ulnar deviation of finger	HP:0009465
7140	TNNT3	Overlapping fingers	HP:0010557
326625	MMAB	Hepatomegaly	HP:0002240
326625	MMAB	Hyperammonemia	HP:0001987
326625	MMAB	Autosomal recessive inheritance	HP:0000007
326625	MMAB	Decreased adenosylcobalamin	HP:0003145
326625	MMAB	Generalized hypotonia	HP:0001290
326625	MMAB	Decreased methylmalonyl-CoA mutase activity	HP:0003210
326625	MMAB	Thrombocytopenia	HP:0001873
326625	MMAB	Neutropenia	HP:0001875
326625	MMAB	Pancytopenia	HP:0001876
326625	MMAB	Metabolic acidosis	HP:0001942
326625	MMAB	Dehydration	HP:0001944
326625	MMAB	Methylmalonic aciduria	HP:0012120
326625	MMAB	Ketosis	HP:0001946
326625	MMAB	Vomiting	HP:0002013
326625	MMAB	Methylmalonic acidemia	HP:0002912
326625	MMAB	Muscular hypotonia	HP:0001252
326625	MMAB	Failure to thrive	HP:0001508
326625	MMAB	Lethargy	HP:0001254
326625	MMAB	Neonatal onset	HP:0003623
326625	MMAB	Ketonuria	HP:0002919
326625	MMAB	Feeding difficulties in infancy	HP:0008872
326625	MMAB	Hyperglycinemia	HP:0002154
326625	MMAB	Coma	HP:0001259
326625	MMAB	Anemia	HP:0001903
326625	MMAB	Global developmental delay	HP:0001263
326625	MMAB	Respiratory distress	HP:0002098
23529	CLCF1	Thoracolumbar scoliosis	HP:0002944
23529	CLCF1	Feeding difficulties	HP:0011968
23529	CLCF1	Clinodactyly	HP:0030084
23529	CLCF1	Facial palsy	HP:0010628
23529	CLCF1	Hypohidrosis	HP:0000966
23529	CLCF1	Autosomal recessive inheritance	HP:0000007
23529	CLCF1	Camptodactyly of finger	HP:0100490
23529	CLCF1	Hyperhidrosis	HP:0000975
23529	CLCF1	Anteverted nares	HP:0000463
23529	CLCF1	2-3 toe syndactyly	HP:0004691
23529	CLCF1	Cubitus valgus	HP:0002967
23529	CLCF1	Long philtrum	HP:0000343
23529	CLCF1	High palate	HP:0000218
23529	CLCF1	Scoliosis	HP:0002650
23529	CLCF1	Protruding ear	HP:0000411
23529	CLCF1	Micrognathia	HP:0000347
23529	CLCF1	Abnormality of the foot	HP:0001760
23529	CLCF1	Limitation of joint mobility	HP:0001376
23529	CLCF1	Narrow mouth	HP:0000160
23529	CLCF1	Limited elbow extension	HP:0001377
23529	CLCF1	Seizures	HP:0001250
23529	CLCF1	Sensorimotor neuropathy	HP:0007141
23529	CLCF1	Full cheeks	HP:0000293
23529	CLCF1	Feeding difficulties in infancy	HP:0008872
23529	CLCF1	Respiratory insufficiency	HP:0002093
23529	CLCF1	Sudden cardiac death	HP:0001645
23529	CLCF1	Death in infancy	HP:0001522
23529	CLCF1	Kyphosis	HP:0002808
23529	CLCF1	Large face	HP:0100729
23529	CLCF1	Lumbar hyperlordosis	HP:0002938
23529	CLCF1	Radial deviation of finger	HP:0009466
23529	CLCF1	Hypertonia	HP:0001276
23529	CLCF1	Wide nose	HP:0000445
23529	CLCF1	Cognitive impairment	HP:0100543
23529	CLCF1	Malignant hyperthermia	HP:0002047
23530	NNT	Seizures	HP:0001250
23530	NNT	Congenital hypothyroidism	HP:0000851
23530	NNT	Failure to thrive	HP:0001508
23530	NNT	Hyponatremia	HP:0002902
23530	NNT	Hypoglycemia	HP:0001943
23530	NNT	Autosomal recessive inheritance	HP:0000007
23530	NNT	Hyperkalemia	HP:0002153
23530	NNT	Precocious puberty	HP:0000826
23530	NNT	Cryptorchidism	HP:0000028
23530	NNT	Hypoglycemic coma	HP:0001325
23530	NNT	Renal salt wasting	HP:0000127
220136	CFAP53	Dextrocardia	HP:0001651
220136	CFAP53	Abdominal situs inversus	HP:0003363
220136	CFAP53	Variable expressivity	HP:0003828
220136	CFAP53	Transposition of the great arteries	HP:0001669
220136	CFAP53	Autosomal recessive inheritance	HP:0000007
375790	AGRN	Pectus carinatum	HP:0000768
375790	AGRN	Narrow jaw	HP:0012801
375790	AGRN	EMG: myopathic abnormalities	HP:0003458
375790	AGRN	Skeletal muscle atrophy	HP:0003202
375790	AGRN	Bulbar palsy	HP:0001283
375790	AGRN	Areflexia	HP:0001284
375790	AGRN	Triceps weakness	HP:0031108
375790	AGRN	Facial palsy	HP:0010628
375790	AGRN	Central hypotonia	HP:0011398
375790	AGRN	Narrow chest	HP:0000774
375790	AGRN	Autosomal recessive inheritance	HP:0000007
375790	AGRN	Motor polyneuropathy	HP:0007178
375790	AGRN	Neck flexor weakness	HP:0003722
375790	AGRN	Diplopia	HP:0000651
375790	AGRN	Ankle weakness	HP:0031374
375790	AGRN	Fatigable weakness	HP:0003473
375790	AGRN	Delayed gross motor development	HP:0002194
375790	AGRN	Toe walking	HP:0040083
375790	AGRN	Long face	HP:0000276
375790	AGRN	Episodic respiratory distress	HP:0004885
375790	AGRN	Decreased fetal movement	HP:0001558
375790	AGRN	Sensorineural hearing impairment	HP:0000407
375790	AGRN	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
375790	AGRN	Polyhydramnios	HP:0001561
375790	AGRN	Drowsiness	HP:0002329
375790	AGRN	Thoracic kyphoscoliosis	HP:0005659
375790	AGRN	Recurrent respiratory infections	HP:0002205
375790	AGRN	Abnormality of masticatory muscle	HP:0410011
375790	AGRN	Reduced tendon reflexes	HP:0001315
375790	AGRN	Central sleep apnea	HP:0010536
375790	AGRN	Restrictive ventilatory defect	HP:0002091
375790	AGRN	Weakness of the intrinsic hand muscles	HP:0009005
375790	AGRN	Respiratory insufficiency	HP:0002093
375790	AGRN	Difficulty walking	HP:0002355
375790	AGRN	Microretrognathia	HP:0000308
375790	AGRN	Esotropia	HP:0000565
375790	AGRN	Frontalis muscle weakness	HP:0004661
375790	AGRN	Obstructive sleep apnea	HP:0002870
375790	AGRN	Respiratory arrest	HP:0005943
375790	AGRN	Apneic episodes precipitated by illness, fatigue, stress	HP:0002872
375790	AGRN	Staring gaze	HP:0025401
375790	AGRN	Exertional dyspnea	HP:0002875
375790	AGRN	Easy fatigability	HP:0003388
375790	AGRN	EMG: impaired neuromuscular transmission	HP:0100285
375790	AGRN	Respiratory failure	HP:0002878
375790	AGRN	Kyphoscoliosis	HP:0002751
375790	AGRN	Cyanosis	HP:0000961
375790	AGRN	Sudden episodic apnea	HP:0002882
375790	AGRN	Stridor	HP:0010307
375790	AGRN	Muscle fiber atrophy	HP:0100295
375790	AGRN	Decreased miniature endplate potentials	HP:0003402
375790	AGRN	Nasal speech	HP:0001611
375790	AGRN	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
375790	AGRN	Weak cry	HP:0001612
375790	AGRN	Nasal regurgitation	HP:0011469
375790	AGRN	Dysphonia	HP:0001618
375790	AGRN	Neck muscle weakness	HP:0000467
375790	AGRN	Waddling gait	HP:0002515
375790	AGRN	Ophthalmoparesis	HP:0000597
375790	AGRN	EEG with polyspike wave complexes	HP:0002392
375790	AGRN	High palate	HP:0000218
375790	AGRN	Ophthalmoplegia	HP:0000602
375790	AGRN	Type 1 muscle fiber predominance	HP:0003803
375790	AGRN	Shoulder girdle muscle weakness	HP:0003547
375790	AGRN	Orthopnea	HP:0012764
375790	AGRN	Distal lower limb muscle weakness	HP:0009053
375790	AGRN	Congenital hip dislocation	HP:0001374
375790	AGRN	Dysphagia	HP:0002015
375790	AGRN	Pes cavus	HP:0001761
375790	AGRN	Intellectual disability	HP:0001249
375790	AGRN	Seizures	HP:0001250
375790	AGRN	Ataxia	HP:0001251
375790	AGRN	Hip flexor weakness	HP:0012515
375790	AGRN	Gastroesophageal reflux	HP:0002020
375790	AGRN	Reduced vital capacity	HP:0002792
375790	AGRN	Spinal rigidity	HP:0003306
375790	AGRN	Joint laxity	HP:0001388
375790	AGRN	Distal amyotrophy	HP:0003693
375790	AGRN	Low-set ears	HP:0000369
375790	AGRN	Poor suck	HP:0002033
375790	AGRN	Hyporeflexia	HP:0001265
375790	AGRN	Decreased size of nerve terminals	HP:0003443
375790	AGRN	Arthrogryposis multiplex congenita	HP:0002804
375790	AGRN	Fatigable weakness of respiratory muscles	HP:0030196
375790	AGRN	Variable expressivity	HP:0003828
375790	AGRN	Proximal muscle weakness	HP:0003701
375790	AGRN	Poor head control	HP:0002421
375790	AGRN	Weakness of long finger extensor muscles	HP:0009077
375790	AGRN	Motor delay	HP:0001270
375790	AGRN	Fatigable weakness of neck muscles	HP:0030199
375790	AGRN	Choking episodes	HP:0030842
375790	AGRN	Spinal deformities	HP:0008443
375790	AGRN	Generalized muscle weakness	HP:0003324
375790	AGRN	Ptosis	HP:0000508
375790	AGRN	Limb-girdle muscle weakness	HP:0003325
375790	AGRN	Nystagmus	HP:0000639
7148	TNXB	Umbilical hernia	HP:0001537
7148	TNXB	Skeletal muscle atrophy	HP:0003202
7148	TNXB	Autosomal dominant inheritance	HP:0000006
7148	TNXB	Autosomal recessive inheritance	HP:0000007
7148	TNXB	Recurrent urinary tract infections	HP:0000010
7148	TNXB	Hip dislocation	HP:0002827
7148	TNXB	Abnormality of the menstrual cycle	HP:0000140
7148	TNXB	Arthralgia	HP:0002829
7148	TNXB	Decreased fertility	HP:0000144
7148	TNXB	Stroke	HP:0001297
7148	TNXB	Vertigo	HP:0002321
7148	TNXB	Gastrointestinal dysmotility	HP:0002579
7148	TNXB	Inguinal hernia	HP:0000023
7148	TNXB	Joint subluxation	HP:0032153
7148	TNXB	Arrhythmia	HP:0011675
7148	TNXB	Migraine	HP:0002076
7148	TNXB	Epicanthus	HP:0000286
7148	TNXB	Cystocele	HP:0100645
7148	TNXB	Quadricuspid aortic valve	HP:0031655
7148	TNXB	Acrocyanosis	HP:0001063
7148	TNXB	Bicornuate uterus	HP:0000813
7148	TNXB	Venous insufficiency	HP:0005293
7148	TNXB	Arterial dissection	HP:0005294
7148	TNXB	Abnormal palate morphology	HP:0000174
7148	TNXB	Microdontia	HP:0000691
7148	TNXB	Keratoconus	HP:0000563
7148	TNXB	Sleep disturbance	HP:0002360
7148	TNXB	Apnea	HP:0002104
7148	TNXB	Joint hyperflexibility	HP:0005692
7148	TNXB	Anorectal anomaly	HP:0012732
7148	TNXB	Ambiguous genitalia, female	HP:0000061
7148	TNXB	Gastrointestinal hemorrhage	HP:0002239
7148	TNXB	Precocious atherosclerosis	HP:0004416
7148	TNXB	Increased connective tissue	HP:0009025
7148	TNXB	Thin skin	HP:0000963
7148	TNXB	Adrenal hypoplasia	HP:0000835
7148	TNXB	Osteoarthritis	HP:0002758
7148	TNXB	Tendon rupture	HP:0100550
7148	TNXB	Paresthesia	HP:0003401
7148	TNXB	Keratoconjunctivitis sicca	HP:0001097
7148	TNXB	Subcutaneous nodule	HP:0001482
7148	TNXB	Abnormality of the wrist	HP:0003019
7148	TNXB	Vesicoureteral reflux	HP:0000076
7148	TNXB	Depressivity	HP:0000716
7148	TNXB	Hyperextensible skin	HP:0000974
7148	TNXB	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
7148	TNXB	Soft skin	HP:0000977
7148	TNXB	Duplicated collecting system	HP:0000081
7148	TNXB	Bruising susceptibility	HP:0000978
7148	TNXB	Gingival overgrowth	HP:0000212
7148	TNXB	Wormian bones	HP:0002645
7148	TNXB	Proximal amyotrophy	HP:0007126
7148	TNXB	Fatigue	HP:0012378
7148	TNXB	Scoliosis	HP:0002650
7148	TNXB	Atypical scarring of skin	HP:0000987
7148	TNXB	Limitation of joint mobility	HP:0001376
7148	TNXB	Nausea and vomiting	HP:0002017
7148	TNXB	Mitral valve prolapse	HP:0001634
7148	TNXB	Spina bifida occulta	HP:0003298
7148	TNXB	Elbow dislocation	HP:0003042
7148	TNXB	Muscle fiber splitting	HP:0003555
7148	TNXB	Pes planus	HP:0001763
7148	TNXB	Constipation	HP:0002019
7148	TNXB	Muscular hypotonia	HP:0001252
7148	TNXB	Gastroesophageal reflux	HP:0002020
7148	TNXB	Joint hypermobility	HP:0001382
7148	TNXB	Gingivitis	HP:0000230
7148	TNXB	Malabsorption	HP:0002024
7148	TNXB	Ascending tubular aorta aneurysm	HP:0004970
7148	TNXB	Osteolysis	HP:0002797
7148	TNXB	Hiatus hernia	HP:0002036
7148	TNXB	Proximal muscle weakness	HP:0003701
7148	TNXB	Decreased nerve conduction velocity	HP:0000762
7148	TNXB	Sensory neuropathy	HP:0000763
7148	TNXB	Ptosis	HP:0000508
7148	TNXB	Myalgia	HP:0003326
23533	PIK3R5	Gaze-evoked nystagmus	HP:0000640
23533	PIK3R5	Saccadic smooth pursuit	HP:0001152
23533	PIK3R5	Hypoalbuminemia	HP:0003073
23533	PIK3R5	Slow saccadic eye movements	HP:0000514
23533	PIK3R5	Areflexia	HP:0001284
23533	PIK3R5	Cerebellar vermis atrophy	HP:0006855
23533	PIK3R5	Autosomal recessive inheritance	HP:0000007
23533	PIK3R5	Oculomotor apraxia	HP:0000657
23533	PIK3R5	Sensory impairment	HP:0003474
23533	PIK3R5	Urinary bladder sphincter dysfunction	HP:0002839
23533	PIK3R5	Progressive	HP:0003676
23533	PIK3R5	Gait imbalance	HP:0002141
23533	PIK3R5	Dysmetria	HP:0001310
23533	PIK3R5	Dysphagia	HP:0002015
23533	PIK3R5	Babinski sign	HP:0003487
23533	PIK3R5	Ataxia	HP:0001251
23533	PIK3R5	Elevated serum creatine kinase	HP:0003236
23533	PIK3R5	Sensorimotor neuropathy	HP:0007141
23533	PIK3R5	Strabismus	HP:0000486
23533	PIK3R5	Head tremor	HP:0002346
23533	PIK3R5	Muscle weakness	HP:0001324
23533	PIK3R5	Dysarthria	HP:0001260
23533	PIK3R5	Elevated alpha-fetoprotein	HP:0006254
23533	PIK3R5	Hyporeflexia	HP:0001265
23533	PIK3R5	Choreoathetosis	HP:0001266
23533	PIK3R5	Hypercholesterolemia	HP:0003124
23533	PIK3R5	Dystonia	HP:0001332
23533	PIK3R5	Polyneuropathy	HP:0001271
23533	PIK3R5	Frequent falls	HP:0002359
23533	PIK3R5	Distal sensory impairment	HP:0002936
23533	PIK3R5	Cerebellar atrophy	HP:0001272
23533	PIK3R5	Postural tremor	HP:0002174
23533	PIK3R5	Nystagmus	HP:0000639
23534	TNPO3	Hypoalbuminemia	HP:0003073
23534	TNPO3	Portal hypertension	HP:0001409
23534	TNPO3	EMG: myopathic abnormalities	HP:0003458
23534	TNPO3	Ascites	HP:0001541
23534	TNPO3	Autosomal dominant inheritance	HP:0000006
23534	TNPO3	Abnormality of metabolism/homeostasis	HP:0001939
23534	TNPO3	Autophagic vacuoles	HP:0003736
23534	TNPO3	Abnormality of the intrahepatic bile duct	HP:0011040
23534	TNPO3	Gastrointestinal inflammation	HP:0004386
23534	TNPO3	Juvenile onset	HP:0003621
23534	TNPO3	Pelvic girdle muscle weakness	HP:0003749
23534	TNPO3	Antinuclear antibody positivity	HP:0003493
23534	TNPO3	Increased circulating IgM level	HP:0003496
23534	TNPO3	Osteoporosis	HP:0000939
23534	TNPO3	Onychomycosis	HP:0012203
23534	TNPO3	Abnormal circulating lipid concentration	HP:0003119
23534	TNPO3	Celiac disease	HP:0002608
23534	TNPO3	Abnormality of the thyroid gland	HP:0000820
23534	TNPO3	Biliary cirrhosis	HP:0002613
23534	TNPO3	Jaundice	HP:0000952
23534	TNPO3	Hyperpigmentation of the skin	HP:0000953
23534	TNPO3	Respiratory insufficiency due to muscle weakness	HP:0002747
23534	TNPO3	Increased circulating IgA level	HP:0003261
23534	TNPO3	Delayed ability to walk	HP:0031936
23534	TNPO3	Increased connective tissue	HP:0009025
23534	TNPO3	Dermatographic urticaria	HP:0011971
23534	TNPO3	Abdominal distention	HP:0003270
23534	TNPO3	Elevated alkaline phosphatase	HP:0003155
23534	TNPO3	Hepatitis	HP:0012115
23534	TNPO3	Pallor	HP:0000980
23534	TNPO3	Difficulty running	HP:0009046
23534	TNPO3	Fatigue	HP:0012378
23534	TNPO3	Shoulder girdle muscle weakness	HP:0003547
23534	TNPO3	Flexion contracture	HP:0001371
23534	TNPO3	Conjugated hyperbilirubinemia	HP:0002908
23534	TNPO3	Rimmed vacuoles	HP:0003805
23534	TNPO3	Pruritus	HP:0000989
23534	TNPO3	Late-onset distal muscle weakness	HP:0003810
23534	TNPO3	Centrally nucleated skeletal muscle fibers	HP:0003687
23534	TNPO3	Muscular dystrophy	HP:0003560
23534	TNPO3	Spinal rigidity	HP:0003306
23534	TNPO3	Scapular winging	HP:0003691
23534	TNPO3	Excessive daytime somnolence	HP:0001262
23534	TNPO3	Cirrhosis	HP:0001394
23534	TNPO3	Hepatic fibrosis	HP:0001395
23534	TNPO3	Hepatic failure	HP:0001399
23534	TNPO3	Hepatocellular carcinoma	HP:0001402
23534	TNPO3	Adult onset	HP:0003581
23534	TNPO3	Orthostatic hypotension	HP:0001278
7153	TOP2A	Neoplasm of the nervous system	HP:0004375
7153	TOP2A	Elevated urinary catecholamines	HP:0011976
7156	TOP3A	Intrauterine growth retardation	HP:0001511
7156	TOP3A	Left ventricular dysfunction	HP:0005162
7156	TOP3A	Diplopia	HP:0000651
7156	TOP3A	Dysarthria	HP:0001260
7156	TOP3A	Progressive external ophthalmoplegia	HP:0000590
7156	TOP3A	Proximal muscle weakness	HP:0003701
7156	TOP3A	Broad-based gait	HP:0002136
7156	TOP3A	Cerebellar atrophy	HP:0001272
7156	TOP3A	Exercise intolerance	HP:0003546
7156	TOP3A	Arrhythmia	HP:0011675
7156	TOP3A	Ptosis	HP:0000508
7156	TOP3A	Adult onset	HP:0003581
7156	TOP3A	Cafe-au-lait spot	HP:0000957
7156	TOP3A	Dysmetria	HP:0001310
7157	TP53	Ovarian neoplasm	HP:0100615
7157	TP53	Autosomal dominant inheritance	HP:0000006
7157	TP53	Abnormality of the fallopian tube	HP:0011027
7157	TP53	Transient ischemic attack	HP:0002326
7157	TP53	Hemiplegia/hemiparesis	HP:0004374
7157	TP53	Neoplasm of the nervous system	HP:0004375
7157	TP53	Neoplasia of the nasopharynx	HP:0100630
7157	TP53	Neoplasm of the adrenal cortex	HP:0100641
7157	TP53	Weight loss	HP:0001824
7157	TP53	Increased serum androstenedione	HP:0025380
7157	TP53	Intestinal pseudo-obstruction	HP:0004389
7157	TP53	Abnormality of urine homeostasis	HP:0003110
7157	TP53	Striae distensae	HP:0001065
7157	TP53	Poor appetite	HP:0004396
7157	TP53	Muscle weakness	HP:0001324
7157	TP53	Melanoma	HP:0002861
7157	TP53	Extrahepatic cholestasis	HP:0012334
7157	TP53	Increased serum estradiol	HP:0025134
7157	TP53	Myelodysplasia	HP:0002863
7157	TP53	Abnormal serum dehydroepiandrosterone level	HP:0500022
7157	TP53	Diabetes mellitus	HP:0000819
7157	TP53	Hypertension	HP:0000822
7157	TP53	Arterial thrombosis	HP:0004420
7157	TP53	Pancreatic adenocarcinoma	HP:0006725
7157	TP53	Venous thrombosis	HP:0004936
7157	TP53	Paresthesia	HP:0003401
7157	TP53	Neoplasm of the pancreas	HP:0002894
7157	TP53	Neoplasm of the liver	HP:0002896
7157	TP53	Abnormality of reproductive system physiology	HP:0000080
7157	TP53	Elevated alkaline phosphatase	HP:0003155
7157	TP53	Hypokalemia	HP:0002900
7157	TP53	Choroid plexus papilloma	HP:0200022
7157	TP53	Adrenocortical carcinoma	HP:0006744
7157	TP53	Abnormality of the femoral metaphysis	HP:0006489
7157	TP53	Back pain	HP:0003418
7157	TP53	Hyperaldosteronism	HP:0000859
7157	TP53	Increased lactate dehydrogenase activity	HP:0025435
7157	TP53	Abnormality of the tibial metaphysis	HP:0006491
7157	TP53	Elevated serum 11-deoxycortisol	HP:0025436
7157	TP53	Prostate cancer	HP:0012125
7157	TP53	Elevated hepatic transaminase	HP:0002910
7157	TP53	Abnormal platelet morphology	HP:0011875
7157	TP53	Lymphoma	HP:0002665
7157	TP53	Joint swelling	HP:0001386
7157	TP53	Nephroblastoma	HP:0002667
7157	TP53	Osteosarcoma	HP:0002669
7157	TP53	Anemia	HP:0001903
7157	TP53	Myocardial infarction	HP:0001658
7157	TP53	Hepatocellular carcinoma	HP:0001402
7157	TP53	Pure red cell aplasia	HP:0012410
7157	TP53	Lung adenocarcinoma	HP:0030078
7157	TP53	Functional intestinal obstruction	HP:0005249
7157	TP53	Neoplasm of the skin	HP:0008069
7157	TP53	Micronodular cirrhosis	HP:0001413
7157	TP53	Increased megakaryocyte count	HP:0005513
7157	TP53	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0003466
7157	TP53	Chest pain	HP:0100749
7157	TP53	Progressive encephalopathy	HP:0002448
7157	TP53	Chronic fatigue	HP:0012432
7157	TP53	Heterogeneous	HP:0001425
7157	TP53	Somatic mutation	HP:0001428
7157	TP53	Hepatosplenomegaly	HP:0001433
7157	TP53	Fever	HP:0001945
7157	TP53	Lymphadenopathy	HP:0002716
7157	TP53	Palpitations	HP:0001962
7157	TP53	Subacute progressive viral hepatitis	HP:0006572
7157	TP53	Neoplasm of the colon	HP:0100273
7157	TP53	Panic attack	HP:0025269
7157	TP53	Acute leukemia	HP:0002488
7157	TP53	Jaundice	HP:0000952
7157	TP53	Breast carcinoma	HP:0003002
7157	TP53	Colon cancer	HP:0003003
7157	TP53	Cognitive impairment	HP:0100543
7157	TP53	Prolonged bleeding time	HP:0003010
7157	TP53	Pathologic fracture	HP:0002756
7157	TP53	Myelofibrosis	HP:0011974
7157	TP53	Primary peritoneal carcinoma	HP:0030406
7157	TP53	Exocrine pancreatic insufficiency	HP:0001738
7157	TP53	Intermittent diarrhea	HP:0002254
7157	TP53	Hyperhidrosis	HP:0000975
7157	TP53	Splenomegaly	HP:0001744
7157	TP53	Increased level of L-fucose in urine	HP:0410067
7157	TP53	Amaurosis fugax	HP:0100576
7157	TP53	Nausea and vomiting	HP:0002017
7157	TP53	Irritability	HP:0000737
7157	TP53	Seizures	HP:0001250
7157	TP53	Anxiety	HP:0000739
7157	TP53	Adrenocorticotropic hormone deficiency	HP:0011748
7157	TP53	Increased body weight	HP:0004324
7157	TP53	Ovarian carcinoma	HP:0025318
7157	TP53	Hypertrichosis	HP:0000998
7157	TP53	Polygenic inheritance	HP:0010982
7157	TP53	Abdominal pain	HP:0002027
7157	TP53	Osteolysis	HP:0002797
7157	TP53	Hydrocephalus	HP:0000238
7157	TP53	Global developmental delay	HP:0001263
7157	TP53	Soft tissue sarcoma	HP:0030448
7157	TP53	Peritoneal abscess	HP:0100592
7157	TP53	Pain	HP:0012531
7157	TP53	Anorexia	HP:0002039
7157	TP53	Visual impairment	HP:0000505
7157	TP53	Hypertonia	HP:0001276
7157	TP53	Increased urinary cortisol level	HP:0012030
23545	ATP6V0A2	Umbilical hernia	HP:0001537
23545	ATP6V0A2	Wide anterior fontanel	HP:0000260
23545	ATP6V0A2	Autosomal recessive inheritance	HP:0000007
23545	ATP6V0A2	Short nail	HP:0001799
23545	ATP6V0A2	Generalized hypotonia	HP:0001290
23545	ATP6V0A2	Thick hair	HP:0100874
23545	ATP6V0A2	Delayed cranial suture closure	HP:0000270
23545	ATP6V0A2	Malar flattening	HP:0000272
23545	ATP6V0A2	Fragile nails	HP:0001808
23545	ATP6V0A2	Pachygyria	HP:0001302
23545	ATP6V0A2	Inguinal hernia	HP:0000023
23545	ATP6V0A2	Midface retrusion	HP:0011800
23545	ATP6V0A2	Dandy-Walker malformation	HP:0001305
23545	ATP6V0A2	Progressive cerebellar ataxia	HP:0002073
23545	ATP6V0A2	Slender long bone	HP:0003100
23545	ATP6V0A2	Cryptorchidism	HP:0000028
23545	ATP6V0A2	Epicanthus	HP:0000286
23545	ATP6V0A2	Myopia	HP:0000545
23545	ATP6V0A2	Prominent veins on trunk	HP:0007457
23545	ATP6V0A2	Cerebellar hypoplasia	HP:0001321
23545	ATP6V0A2	Hypoplasia of the musculature	HP:0009004
23545	ATP6V0A2	Redundant skin	HP:0001582
23545	ATP6V0A2	Deep palmar crease	HP:0006191
23545	ATP6V0A2	Recurrent sinopulmonary infections	HP:0005425
23545	ATP6V0A2	Psychomotor deterioration	HP:0002361
23545	ATP6V0A2	Hypertelorism	HP:0000316
23545	ATP6V0A2	Smooth philtrum	HP:0000319
23545	ATP6V0A2	Slurred speech	HP:0001350
23545	ATP6V0A2	Abnormality of the cheek	HP:0004426
23545	ATP6V0A2	Nasal speech	HP:0001611
23545	ATP6V0A2	Deep plantar creases	HP:0001869
23545	ATP6V0A2	Polymicrogyria	HP:0002126
23545	ATP6V0A2	Fragmented elastic fibers in the dermis	HP:0025167
23545	ATP6V0A2	Flat face	HP:0012368
23545	ATP6V0A2	Wormian bones	HP:0002645
23545	ATP6V0A2	Status epilepticus	HP:0002133
23545	ATP6V0A2	High nonceruloplasmin-bound serum copper	HP:0010838
23545	ATP6V0A2	Long philtrum	HP:0000343
23545	ATP6V0A2	Abnormal isoelectric focusing of serum transferrin	HP:0003160
23545	ATP6V0A2	Scoliosis	HP:0002650
23545	ATP6V0A2	Palmoplantar cutis laxa	HP:0007517
23545	ATP6V0A2	Congenital hip dislocation	HP:0001374
23545	ATP6V0A2	Redundant neck skin	HP:0005989
23545	ATP6V0A2	Joint hypermobility	HP:0001382
23545	ATP6V0A2	Scapular winging	HP:0003691
23545	ATP6V0A2	Low-set ears	HP:0000369
23545	ATP6V0A2	Abnormal apolipoprotein level	HP:0025201
23545	ATP6V0A2	Short nose	HP:0003196
23545	ATP6V0A2	Decreased muscle mass	HP:0003199
23545	ATP6V0A2	Abnormal subcutaneous fat tissue distribution	HP:0007552
23545	ATP6V0A2	Slender long bones with narrow diaphyses	HP:0004993
23545	ATP6V0A2	Sparse hair	HP:0008070
23545	ATP6V0A2	Intellectual disability, profound	HP:0002187
23545	ATP6V0A2	Prominent nasolabial fold	HP:0005272
23545	ATP6V0A2	Subretinal pigment epithelium hemorrhage	HP:0025244
23545	ATP6V0A2	Carious teeth	HP:0000670
23545	ATP6V0A2	Narrow mouth	HP:0000160
23545	ATP6V0A2	Coarse hair	HP:0002208
23545	ATP6V0A2	Poor speech	HP:0002465
23545	ATP6V0A2	Lipodystrophy	HP:0009125
23545	ATP6V0A2	Feeding difficulties in infancy	HP:0008872
23545	ATP6V0A2	Osteopenia	HP:0000938
23545	ATP6V0A2	Delayed eruption of teeth	HP:0000684
23545	ATP6V0A2	Wide nasal bridge	HP:0000431
23545	ATP6V0A2	Multiple plantar creases	HP:0008113
23545	ATP6V0A2	Microdontia	HP:0000691
23545	ATP6V0A2	Kyphoscoliosis	HP:0002751
23545	ATP6V0A2	Feeding difficulties	HP:0011968
23545	ATP6V0A2	Postnatal growth retardation	HP:0008897
23545	ATP6V0A2	Delayed closure of the anterior fontanelle	HP:0001476
23545	ATP6V0A2	Broad nasal tip	HP:0000455
23545	ATP6V0A2	Generalized joint laxity	HP:0002761
23545	ATP6V0A2	Cutis laxa	HP:0000973
23545	ATP6V0A2	Small, conical teeth	HP:0200141
23545	ATP6V0A2	Anteverted nares	HP:0000463
23545	ATP6V0A2	Dementia	HP:0000726
23545	ATP6V0A2	Frontal bossing	HP:0002007
23545	ATP6V0A2	High palate	HP:0000218
23545	ATP6V0A2	Atrial septal dilatation	HP:0011995
23545	ATP6V0A2	Excessive wrinkled skin	HP:0007392
23545	ATP6V0A2	Intellectual disability	HP:0001249
23545	ATP6V0A2	Seizures	HP:0001250
23545	ATP6V0A2	Short stature	HP:0004322
23545	ATP6V0A2	Talipes equinovarus	HP:0001762
23545	ATP6V0A2	Multiple palmar creases	HP:0006114
23545	ATP6V0A2	Pes planus	HP:0001763
23545	ATP6V0A2	Muscular hypotonia	HP:0001252
23545	ATP6V0A2	Failure to thrive	HP:0001508
23545	ATP6V0A2	Strabismus	HP:0000486
23545	ATP6V0A2	Intrauterine growth retardation	HP:0001511
23545	ATP6V0A2	Spasticity	HP:0001257
23545	ATP6V0A2	Thick cerebral cortex	HP:0006891
23545	ATP6V0A2	Abnormality of the intrinsic pathway	HP:0010989
23545	ATP6V0A2	Downslanted palpebral fissures	HP:0000494
23545	ATP6V0A2	Delayed speech and language development	HP:0000750
23545	ATP6V0A2	Global developmental delay	HP:0001263
23545	ATP6V0A2	Excessive skin wrinkling on dorsum of hands and fingers	HP:0007407
23545	ATP6V0A2	Infantile muscular hypotonia	HP:0008947
23545	ATP6V0A2	Motor delay	HP:0001270
23545	ATP6V0A2	Neonatal wrinkled skin of hands and feet	HP:0007414
23545	ATP6V0A2	Kyphosis	HP:0002808
23545	ATP6V0A2	Brittle hair	HP:0002299
23545	ATP6V0A2	High myopia	HP:0011003
23545	ATP6V0A2	Microcephaly	HP:0000252
23545	ATP6V0A2	Premature rupture of membranes	HP:0001788
23545	ATP6V0A2	Coxa vara	HP:0002812
23545	ATP6V0A2	Progressive microcephaly	HP:0000253
23545	ATP6V0A2	Pectus excavatum	HP:0000767
343035	RD3	Abnormal electroretinogram	HP:0000512
343035	RD3	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
343035	RD3	Intellectual disability	HP:0001249
343035	RD3	Seizures	HP:0001250
343035	RD3	Abnormality of macular pigmentation	HP:0008002
343035	RD3	Congenital blindness	HP:0007875
343035	RD3	Encephalocele	HP:0002084
343035	RD3	Muscular hypotonia	HP:0001252
343035	RD3	Cataract	HP:0000518
343035	RD3	Autosomal recessive inheritance	HP:0000007
343035	RD3	Hearing impairment	HP:0000365
343035	RD3	Global developmental delay	HP:0001263
343035	RD3	Keratoconus	HP:0000563
343035	RD3	Severely reduced visual acuity	HP:0001141
343035	RD3	Hemiplegia/hemiparesis	HP:0004374
343035	RD3	Abnormality of retinal pigmentation	HP:0007703
343035	RD3	Abnormality of the optic disc	HP:0012795
343035	RD3	Abnormality of neuronal migration	HP:0002269
343035	RD3	Nystagmus	HP:0000639
7167	TPI1	Skeletal muscle atrophy	HP:0003202
7167	TPI1	Diaphragmatic paralysis	HP:0006597
7167	TPI1	Chronic hemolytic anemia	HP:0004870
7167	TPI1	Autosomal recessive inheritance	HP:0000007
7167	TPI1	Generalized hypotonia	HP:0001290
7167	TPI1	Unsteady gait	HP:0002317
7167	TPI1	Splenomegaly	HP:0001744
7167	TPI1	Optic disc pallor	HP:0000543
7167	TPI1	Central nervous system degeneration	HP:0007009
7167	TPI1	Abnormality of immune system physiology	HP:0010978
7167	TPI1	Congestive heart failure	HP:0001635
7167	TPI1	Muscular hypotonia	HP:0001252
7167	TPI1	Peripheral neuropathy	HP:0009830
7167	TPI1	Hypertrophic cardiomyopathy	HP:0001639
7167	TPI1	Normochromic anemia	HP:0001895
7167	TPI1	Spasticity	HP:0001257
7167	TPI1	Normocytic anemia	HP:0001897
7167	TPI1	Global developmental delay	HP:0001263
7167	TPI1	Hyporeflexia	HP:0001265
7167	TPI1	Dystonia	HP:0001332
7167	TPI1	Jaundice	HP:0000952
7167	TPI1	Kyphosis	HP:0002808
7167	TPI1	Cholelithiasis	HP:0001081
7167	TPI1	Tremor	HP:0001337
7167	TPI1	Decreased nerve conduction velocity	HP:0000762
7167	TPI1	Cholecystitis	HP:0001082
7167	TPI1	Progressive muscle weakness	HP:0003323
7167	TPI1	Respiratory insufficiency due to muscle weakness	HP:0002747
7167	TPI1	Myopathy	HP:0003198
7168	TPM1	EMG abnormality	HP:0003457
7168	TPM1	Lipoatrophy	HP:0100578
7168	TPM1	Congestive heart failure	HP:0001635
7168	TPM1	Elevated serum creatine kinase	HP:0003236
7168	TPM1	Autosomal dominant inheritance	HP:0000006
7168	TPM1	Hypertrophic cardiomyopathy	HP:0001639
7168	TPM1	Dilated cardiomyopathy	HP:0001644
7168	TPM1	Abnormality of neutrophils	HP:0001874
7168	TPM1	Ventricular tachycardia	HP:0004756
7168	TPM1	Mitral regurgitation	HP:0001653
7168	TPM1	Palmoplantar keratoderma	HP:0000982
7168	TPM1	Sensorineural hearing impairment	HP:0000407
7168	TPM1	Myopathy	HP:0003198
7169	TPM2	Joint contracture of the hand	HP:0009473
7169	TPM2	Bulbar palsy	HP:0001283
7169	TPM2	Areflexia	HP:0001284
7169	TPM2	Autosomal dominant inheritance	HP:0000006
7169	TPM2	Narrow chest	HP:0000774
7169	TPM2	Autosomal recessive inheritance	HP:0000007
7169	TPM2	Clumsiness	HP:0002312
7169	TPM2	Absent distal interphalangeal creases	HP:0001032
7169	TPM2	Generalized hypotonia	HP:0001290
7169	TPM2	Myopathic facies	HP:0002058
7169	TPM2	Hip dislocation	HP:0002827
7169	TPM2	Stiff shoulders	HP:0009742
7169	TPM2	Reduced systolic function	HP:0006673
7169	TPM2	Bradykinesia	HP:0002067
7169	TPM2	Narrow face	HP:0000275
7169	TPM2	Neuromuscular dysphagia	HP:0002068
7169	TPM2	Long face	HP:0000276
7169	TPM2	Calf muscle hypertrophy	HP:0008981
7169	TPM2	Decreased fetal movement	HP:0001558
7169	TPM2	Polyhydramnios	HP:0001561
7169	TPM2	Cryptorchidism	HP:0000028
7169	TPM2	Type 1 muscle fiber atrophy	HP:0011807
7169	TPM2	Reduced tendon reflexes	HP:0001315
7169	TPM2	Neonatal hypotonia	HP:0001319
7169	TPM2	Genu valgum	HP:0002857
7169	TPM2	Pulmonary hypoplasia	HP:0002089
7169	TPM2	Lower limb amyotrophy	HP:0007210
7169	TPM2	Respiratory insufficiency	HP:0002093
7169	TPM2	Rocker bottom foot	HP:0001838
7169	TPM2	Mandibular prognathia	HP:0000303
7169	TPM2	Metatarsus adductus	HP:0001840
7169	TPM2	Limb joint contracture	HP:0003121
7169	TPM2	Difficulty walking	HP:0002355
7169	TPM2	Distal arthrogryposis	HP:0005684
7169	TPM2	Tented upper lip vermilion	HP:0010804
7169	TPM2	Frequent falls	HP:0002359
7169	TPM2	Calcaneovalgus deformity	HP:0001848
7169	TPM2	Aortic root aneurysm	HP:0002616
7169	TPM2	Hypertelorism	HP:0000316
7169	TPM2	Easy fatigability	HP:0003388
7169	TPM2	Nocturnal hypoventilation	HP:0002877
7169	TPM2	Overlapping fingers	HP:0010557
7169	TPM2	Gowers sign	HP:0003391
7169	TPM2	Ankle contracture	HP:0006466
7169	TPM2	Foot dorsiflexor weakness	HP:0009027
7169	TPM2	Triangular face	HP:0000325
7169	TPM2	Facial diplegia	HP:0001349
7169	TPM2	Hypokinesia	HP:0002375
7169	TPM2	Nasal speech	HP:0001611
7169	TPM2	Weak cry	HP:0001612
7169	TPM2	Abnormality of the ear	HP:0000598
7169	TPM2	Difficulty running	HP:0009046
7169	TPM2	Long philtrum	HP:0000343
7169	TPM2	Breech presentation	HP:0001623
7169	TPM2	Scoliosis	HP:0002650
7169	TPM2	Ophthalmoplegia	HP:0000602
7169	TPM2	Micrognathia	HP:0000347
7169	TPM2	Talipes	HP:0001883
7169	TPM2	Flexion contracture	HP:0001371
7169	TPM2	Congenital hip dislocation	HP:0001374
7169	TPM2	Vertebral segmentation defect	HP:0003422
7169	TPM2	Generalized limb muscle atrophy	HP:0009055
7169	TPM2	Camptodactyly	HP:0012385
7169	TPM2	Increased muscle lipid content	HP:0009058
7169	TPM2	Mitral valve prolapse	HP:0001634
7169	TPM2	Aplasia/Hypoplasia of the radius	HP:0006501
7169	TPM2	Cardiomyopathy	HP:0001638
7169	TPM2	Centrally nucleated skeletal muscle fibers	HP:0003687
7169	TPM2	Limb muscle weakness	HP:0003690
7169	TPM2	Scapular winging	HP:0003691
7169	TPM2	Joint stiffness	HP:0001387
7169	TPM2	Dilated cardiomyopathy	HP:0001644
7169	TPM2	Joint laxity	HP:0001388
7169	TPM2	Decreased hip abduction	HP:0003184
7169	TPM2	Generalized amyotrophy	HP:0003700
7169	TPM2	Proximal muscle weakness	HP:0003701
7169	TPM2	Poor head control	HP:0002421
7169	TPM2	Lumbar hyperlordosis	HP:0002938
7169	TPM2	Myopathy	HP:0003198
7169	TPM2	Thoracic scoliosis	HP:0002943
7169	TPM2	EMG: myopathic abnormalities	HP:0003458
7169	TPM2	Skeletal muscle atrophy	HP:0003202
7169	TPM2	Facial palsy	HP:0010628
7169	TPM2	Neck flexor weakness	HP:0003722
7169	TPM2	Camptodactyly of finger	HP:0100490
7169	TPM2	Heterogeneous	HP:0001425
7169	TPM2	Pes valgus	HP:0008081
7169	TPM2	Toe walking	HP:0040083
7169	TPM2	Prominent nasolabial fold	HP:0005272
7169	TPM2	Genu varum	HP:0002970
7169	TPM2	Protruding ear	HP:0000411
7169	TPM2	Adducted thumb	HP:0001181
7169	TPM2	Recurrent respiratory infections	HP:0002205
7169	TPM2	Narrow mouth	HP:0000160
7169	TPM2	Elevated serum creatine kinase	HP:0003236
7169	TPM2	Hand clenching	HP:0001188
7169	TPM2	Feeding difficulties in infancy	HP:0008872
7169	TPM2	Ulnar deviation of the hand or of fingers of the hand	HP:0001193
7169	TPM2	Elbow flexion contracture	HP:0002987
7169	TPM2	Type 1 fibers relatively smaller than type 2 fibers	HP:0003755
7169	TPM2	Lower limb muscle weakness	HP:0007340
7169	TPM2	Bilateral single transverse palmar creases	HP:0007598
7169	TPM2	Wide nasal bridge	HP:0000431
7169	TPM2	Tarsal synostosis	HP:0008368
7169	TPM2	Bulbar signs	HP:0002483
7169	TPM2	Sinus tachycardia	HP:0011703
7169	TPM2	Single transverse palmar crease	HP:0000954
7169	TPM2	Respiratory insufficiency due to muscle weakness	HP:0002747
7169	TPM2	Kyphoscoliosis	HP:0002751
7169	TPM2	Feeding difficulties	HP:0011968
7169	TPM2	Fetal akinesia sequence	HP:0001989
7169	TPM2	Central hypoventilation	HP:0007110
7169	TPM2	Childhood onset	HP:0011463
7169	TPM2	Abnormality of the hip bone	HP:0003272
7169	TPM2	Hip contracture	HP:0003273
7169	TPM2	Webbed neck	HP:0000465
7169	TPM2	Neck muscle weakness	HP:0000467
7169	TPM2	Waddling gait	HP:0002515
7169	TPM2	Trismus	HP:0000211
7169	TPM2	Nemaline bodies	HP:0003798
7169	TPM2	Short neck	HP:0000470
7169	TPM2	High palate	HP:0000218
7169	TPM2	Exercise intolerance	HP:0003546
7169	TPM2	Type 1 muscle fiber predominance	HP:0003803
7169	TPM2	Absent phalangeal crease	HP:0006109
7169	TPM2	Dysphagia	HP:0002015
7169	TPM2	Round ear	HP:0100830
7169	TPM2	Difficulty climbing stairs	HP:0003551
7169	TPM2	Muscle stiffness	HP:0003552
7169	TPM2	Pes cavus	HP:0001761
7169	TPM2	Intellectual disability	HP:0001249
7169	TPM2	Short stature	HP:0004322
7169	TPM2	Talipes equinovarus	HP:0001762
7169	TPM2	Pes planus	HP:0001763
7169	TPM2	Failure to thrive	HP:0001508
7169	TPM2	Muscular hypotonia	HP:0001252
7169	TPM2	Increased variability in muscle fiber diameter	HP:0003557
7169	TPM2	Reduced vital capacity	HP:0002792
7169	TPM2	Ulnar deviation of the wrist	HP:0003049
7169	TPM2	Spinal rigidity	HP:0003306
7169	TPM2	Hyperlordosis	HP:0003307
7169	TPM2	Knee flexion contracture	HP:0006380
7169	TPM2	Downslanted palpebral fissures	HP:0000494
7169	TPM2	Fatigable weakness of bulbar muscles	HP:0030192
7169	TPM2	Hyporeflexia	HP:0001265
7169	TPM2	Poor suck	HP:0002033
7169	TPM2	Flexion contracture of finger	HP:0012785
7169	TPM2	Arthrogryposis multiplex congenita	HP:0002804
7169	TPM2	Mildly elevated creatine kinase	HP:0008180
7169	TPM2	Fatigable weakness of respiratory muscles	HP:0030196
7169	TPM2	Variable expressivity	HP:0003828
7169	TPM2	Motor delay	HP:0001270
7169	TPM2	Fatigable weakness of distal limb muscles	HP:0030198
7169	TPM2	Kyphosis	HP:0002808
7169	TPM2	Fatiguable weakness of proximal limb muscles	HP:0030200
7169	TPM2	Congenital onset	HP:0003577
7169	TPM2	Ulnar deviation of finger	HP:0009465
7169	TPM2	Ptosis	HP:0000508
7169	TPM2	Generalized muscle weakness	HP:0003324
7169	TPM2	Slender build	HP:0001533
7169	TPM2	Limb-girdle muscle weakness	HP:0003325
7169	TPM2	Axial muscle weakness	HP:0003327
7169	TPM2	Pectus excavatum	HP:0000767
23554	TSPAN12	Shallow anterior chamber	HP:0000594
23554	TSPAN12	Autosomal dominant inheritance	HP:0000006
23554	TSPAN12	Exudative vitreoretinopathy	HP:0030490
23554	TSPAN12	Retinal exudate	HP:0001147
23554	TSPAN12	Tractional retinal detachment	HP:0007917
23554	TSPAN12	Reduced visual acuity	HP:0007663
7170	TPM3	Bulbar palsy	HP:0001283
7170	TPM3	Areflexia	HP:0001284
7170	TPM3	Narrow chest	HP:0000774
7170	TPM3	Autosomal dominant inheritance	HP:0000006
7170	TPM3	Autosomal recessive inheritance	HP:0000007
7170	TPM3	Clumsiness	HP:0002312
7170	TPM3	Generalized hypotonia	HP:0001290
7170	TPM3	Myopathic facies	HP:0002058
7170	TPM3	Reduced systolic function	HP:0006673
7170	TPM3	Bradykinesia	HP:0002067
7170	TPM3	Narrow face	HP:0000275
7170	TPM3	Neuromuscular dysphagia	HP:0002068
7170	TPM3	Long face	HP:0000276
7170	TPM3	Calf muscle hypertrophy	HP:0008981
7170	TPM3	Decreased fetal movement	HP:0001558
7170	TPM3	Polyhydramnios	HP:0001561
7170	TPM3	Cryptorchidism	HP:0000028
7170	TPM3	Type 1 muscle fiber atrophy	HP:0011807
7170	TPM3	Reduced tendon reflexes	HP:0001315
7170	TPM3	Juvenile onset	HP:0003621
7170	TPM3	Neonatal hypotonia	HP:0001319
7170	TPM3	Pulmonary hypoplasia	HP:0002089
7170	TPM3	Lower limb amyotrophy	HP:0007210
7170	TPM3	Respiratory insufficiency	HP:0002093
7170	TPM3	Limb joint contracture	HP:0003121
7170	TPM3	Difficulty walking	HP:0002355
7170	TPM3	Tented upper lip vermilion	HP:0010804
7170	TPM3	Frequent falls	HP:0002359
7170	TPM3	Aortic root aneurysm	HP:0002616
7170	TPM3	Hypertelorism	HP:0000316
7170	TPM3	Easy fatigability	HP:0003388
7170	TPM3	Respiratory failure	HP:0002878
7170	TPM3	Gowers sign	HP:0003391
7170	TPM3	Ankle contracture	HP:0006466
7170	TPM3	Facial diplegia	HP:0001349
7170	TPM3	Hypokinesia	HP:0002375
7170	TPM3	Nasal speech	HP:0001611
7170	TPM3	Weak cry	HP:0001612
7170	TPM3	Difficulty running	HP:0009046
7170	TPM3	Premature birth	HP:0001622
7170	TPM3	Breech presentation	HP:0001623
7170	TPM3	Long philtrum	HP:0000343
7170	TPM3	Scoliosis	HP:0002650
7170	TPM3	Ophthalmoplegia	HP:0000602
7170	TPM3	Micrognathia	HP:0000347
7170	TPM3	Flexion contracture	HP:0001371
7170	TPM3	Distal lower limb muscle weakness	HP:0009053
7170	TPM3	Congenital hip dislocation	HP:0001374
7170	TPM3	Generalized limb muscle atrophy	HP:0009055
7170	TPM3	Increased muscle lipid content	HP:0009058
7170	TPM3	Mitral valve prolapse	HP:0001634
7170	TPM3	Cardiomyopathy	HP:0001638
7170	TPM3	Centrally nucleated skeletal muscle fibers	HP:0003687
7170	TPM3	Limb muscle weakness	HP:0003690
7170	TPM3	Scapular winging	HP:0003691
7170	TPM3	Dilated cardiomyopathy	HP:0001644
7170	TPM3	Joint laxity	HP:0001388
7170	TPM3	Low-set ears	HP:0000369
7170	TPM3	Generalized amyotrophy	HP:0003700
7170	TPM3	Proximal muscle weakness	HP:0003701
7170	TPM3	Poor head control	HP:0002421
7170	TPM3	Lumbar hyperlordosis	HP:0002938
7170	TPM3	Thoracic scoliosis	HP:0002943
7170	TPM3	EMG: myopathic abnormalities	HP:0003458
7170	TPM3	Skeletal muscle atrophy	HP:0003202
7170	TPM3	Facial palsy	HP:0010628
7170	TPM3	Shoulder girdle muscle atrophy	HP:0003724
7170	TPM3	Heterogeneous	HP:0001425
7170	TPM3	Pes valgus	HP:0008081
7170	TPM3	High, narrow palate	HP:0002705
7170	TPM3	Toe walking	HP:0040083
7170	TPM3	Recurrent respiratory infections	HP:0002205
7170	TPM3	Type 1 fibers relatively smaller than type 2 fibers	HP:0003755
7170	TPM3	Elbow flexion contracture	HP:0002987
7170	TPM3	Lower limb muscle weakness	HP:0007340
7170	TPM3	Severe muscular hypotonia	HP:0006829
7170	TPM3	Bulbar signs	HP:0002483
7170	TPM3	Sinus tachycardia	HP:0011703
7170	TPM3	Respiratory insufficiency due to muscle weakness	HP:0002747
7170	TPM3	Kyphoscoliosis	HP:0002751
7170	TPM3	Feeding difficulties	HP:0011968
7170	TPM3	Fetal akinesia sequence	HP:0001989
7170	TPM3	Central hypoventilation	HP:0007110
7170	TPM3	Hip contracture	HP:0003273
7170	TPM3	Neck muscle weakness	HP:0000467
7170	TPM3	Waddling gait	HP:0002515
7170	TPM3	Nemaline bodies	HP:0003798
7170	TPM3	Exercise intolerance	HP:0003546
7170	TPM3	High palate	HP:0000218
7170	TPM3	Type 1 muscle fiber predominance	HP:0003803
7170	TPM3	Dysphagia	HP:0002015
7170	TPM3	Difficulty climbing stairs	HP:0003551
7170	TPM3	Multiple prenatal fractures	HP:0005855
7170	TPM3	Muscle stiffness	HP:0003552
7170	TPM3	Pes cavus	HP:0001761
7170	TPM3	Intellectual disability	HP:0001249
7170	TPM3	Short stature	HP:0004322
7170	TPM3	Talipes equinovarus	HP:0001762
7170	TPM3	Pes planus	HP:0001763
7170	TPM3	Failure to thrive	HP:0001508
7170	TPM3	Muscular hypotonia	HP:0001252
7170	TPM3	Increased variability in muscle fiber diameter	HP:0003557
7170	TPM3	Reduced vital capacity	HP:0002792
7170	TPM3	Spinal rigidity	HP:0003306
7170	TPM3	Hyperlordosis	HP:0003307
7170	TPM3	Knee flexion contracture	HP:0006380
7170	TPM3	Fatigable weakness of bulbar muscles	HP:0030192
7170	TPM3	Distal lower limb amyotrophy	HP:0008944
7170	TPM3	Hyporeflexia	HP:0001265
7170	TPM3	Poor suck	HP:0002033
7170	TPM3	Flexion contracture of finger	HP:0012785
7170	TPM3	Mildly elevated creatine kinase	HP:0008180
7170	TPM3	Arthrogryposis multiplex congenita	HP:0002804
7170	TPM3	Variable expressivity	HP:0003828
7170	TPM3	Motor delay	HP:0001270
7170	TPM3	Fatiguable weakness of proximal limb muscles	HP:0030200
7170	TPM3	Congenital onset	HP:0003577
7170	TPM3	Ptosis	HP:0000508
7170	TPM3	Generalized muscle weakness	HP:0003324
7170	TPM3	Slender build	HP:0001533
7170	TPM3	Abnormality of the thorax	HP:0000765
7170	TPM3	Pectus excavatum	HP:0000767
23556	PIGN	Macrocephaly	HP:0000256
23556	PIGN	Athetosis	HP:0002305
23556	PIGN	Multicystic kidney dysplasia	HP:0000003
23556	PIGN	Omphalocele	HP:0001539
23556	PIGN	Narrow chest	HP:0000774
23556	PIGN	Intestinal malrotation	HP:0002566
23556	PIGN	Prominent tragus	HP:0011271
23556	PIGN	Autosomal recessive inheritance	HP:0000007
23556	PIGN	Congenital diaphragmatic hernia	HP:0000776
23556	PIGN	Generalized hypotonia	HP:0001290
23556	PIGN	Cerebral atrophy	HP:0002059
23556	PIGN	Hypoplastic fingernail	HP:0001804
23556	PIGN	Prominent occiput	HP:0000269
23556	PIGN	Unilateral renal dysplasia	HP:0008718
23556	PIGN	Abnormal aortic arch morphology	HP:0012303
23556	PIGN	Hyperpigmented/hypopigmented macules	HP:0007441
23556	PIGN	Proportionate shortening of all digits	HP:0006165
23556	PIGN	Corneal opacity	HP:0007957
23556	PIGN	Coarse facial features	HP:0000280
23556	PIGN	Polyhydramnios	HP:0001561
23556	PIGN	Dandy-Walker malformation	HP:0001305
23556	PIGN	Cryptorchidism	HP:0000028
23556	PIGN	Epicanthus	HP:0000286
23556	PIGN	Hypoplasia of the corpus callosum	HP:0002079
23556	PIGN	Proximal muscle weakness in lower limbs	HP:0008994
23556	PIGN	Hydrocele testis	HP:0000034
23556	PIGN	Full cheeks	HP:0000293
23556	PIGN	Pulmonary hypoplasia	HP:0002089
23556	PIGN	Thin lower lip vermilion	HP:0010282
23556	PIGN	Pulmonary arterial hypertension	HP:0002092
23556	PIGN	Bicornuate uterus	HP:0000813
23556	PIGN	Ectopic anus	HP:0004397
23556	PIGN	Hypospadias	HP:0000047
23556	PIGN	Vertical nystagmus	HP:0010544
23556	PIGN	Prominent palatine ridges	HP:0010291
23556	PIGN	Abnormality of the ilium	HP:0002867
23556	PIGN	Recurrent aspiration pneumonia	HP:0002100
23556	PIGN	Microretrognathia	HP:0000308
23556	PIGN	Tented upper lip vermilion	HP:0010804
23556	PIGN	Esotropia	HP:0000565
23556	PIGN	Aplasia/Hypoplasia of the nipples	HP:0006709
23556	PIGN	Aortic root aneurysm	HP:0002616
23556	PIGN	Microphthalmia	HP:0000568
23556	PIGN	Tremor	HP:0001337
23556	PIGN	Hypertelorism	HP:0000316
23556	PIGN	Smooth philtrum	HP:0000319
23556	PIGN	Absent speech	HP:0001344
23556	PIGN	Hyperreflexia	HP:0001347
23556	PIGN	Asymmetric crying face	HP:0011333
23556	PIGN	Upslanted palpebral fissure	HP:0000582
23556	PIGN	Ventriculomegaly	HP:0002119
23556	PIGN	Hydroureter	HP:0000072
23556	PIGN	Cerebral cortical atrophy	HP:0002120
23556	PIGN	Deep longitudinal plantar crease	HP:0004681
23556	PIGN	Ureteral duplication	HP:0000073
23556	PIGN	Vesicoureteral reflux	HP:0000076
23556	PIGN	Deep plantar creases	HP:0001869
23556	PIGN	Hoarse cry	HP:0001615
23556	PIGN	Severe global developmental delay	HP:0011344
23556	PIGN	Broad forehead	HP:0000337
23556	PIGN	Narrow forehead	HP:0000341
23556	PIGN	Long philtrum	HP:0000343
23556	PIGN	Micrognathia	HP:0000347
23556	PIGN	Small forehead	HP:0000350
23556	PIGN	Atrial septal defect	HP:0001631
23556	PIGN	Tetralogy of Fallot	HP:0001636
23556	PIGN	Posteriorly rotated ears	HP:0000358
23556	PIGN	Microtia	HP:0008551
23556	PIGN	Peripheral pulmonary artery stenosis	HP:0004969
23556	PIGN	Patent ductus arteriosus	HP:0001643
23556	PIGN	Elevated alpha-fetoprotein	HP:0006254
23556	PIGN	Renal dysplasia	HP:0000110
23556	PIGN	Low-set, posteriorly rotated ears	HP:0000368
23556	PIGN	Clinodactyly of the 5th finger	HP:0004209
23556	PIGN	Low-set ears	HP:0000369
23556	PIGN	Small hand	HP:0200055
23556	PIGN	Patent foramen ovale	HP:0001655
23556	PIGN	Cupped ear	HP:0000378
23556	PIGN	Short nose	HP:0003196
23556	PIGN	Hydronephrosis	HP:0000126
23556	PIGN	Nystagmus	HP:0000639
23556	PIGN	Increased nuchal translucency	HP:0010880
23556	PIGN	Right ventricular hypertrophy	HP:0001667
23556	PIGN	Brachydactyly	HP:0001156
23556	PIGN	Abnormal renal collecting system morphology	HP:0004742
23556	PIGN	Amblyopia	HP:0000646
23556	PIGN	Partial absence of cerebellar vermis	HP:0002951
23556	PIGN	Abnormal cardiac septum morphology	HP:0001671
23556	PIGN	Macrocephaly at birth	HP:0004488
23556	PIGN	Overfolded helix	HP:0000396
23556	PIGN	Synophrys	HP:0000664
23556	PIGN	Wide mouth	HP:0000154
23556	PIGN	Short distal phalanx of finger	HP:0009882
23556	PIGN	Tapered finger	HP:0001182
23556	PIGN	Delayed myelination	HP:0012448
23556	PIGN	Narrow mouth	HP:0000160
23556	PIGN	Depressed nasal bridge	HP:0005280
23556	PIGN	Median cleft lip	HP:0000161
23556	PIGN	Abnormality of the posterior cranial fossa	HP:0000932
23556	PIGN	Feeding difficulties in infancy	HP:0008872
23556	PIGN	Severe muscular hypotonia	HP:0006829
23556	PIGN	Cleft palate	HP:0000175
23556	PIGN	Wide nasal bridge	HP:0000431
23556	PIGN	Hypertrophy of the urinary bladder	HP:0008635
23556	PIGN	Rectovestibular fistula	HP:0025025
23556	PIGN	Open mouth	HP:0000194
23556	PIGN	Flexion contracture of toe	HP:0005830
23556	PIGN	Duodenal atresia	HP:0002247
23556	PIGN	Aganglionic megacolon	HP:0002251
23556	PIGN	Anteverted nares	HP:0000463
23556	PIGN	Wide intermamillary distance	HP:0006610
23556	PIGN	Gingival overgrowth	HP:0000212
23556	PIGN	Short neck	HP:0000470
23556	PIGN	Frontal bossing	HP:0002007
23556	PIGN	Large fleshy ears	HP:0002265
23556	PIGN	High palate	HP:0000218
23556	PIGN	Thickened nuchal skin fold	HP:0000474
23556	PIGN	Thin upper lip vermilion	HP:0000219
23556	PIGN	Dysphagia	HP:0002015
23556	PIGN	Pes cavus	HP:0001761
23556	PIGN	Intellectual disability	HP:0001249
23556	PIGN	Seizures	HP:0001250
23556	PIGN	Gastroesophageal reflux	HP:0002020
23556	PIGN	Congenital megaureter	HP:0008676
23556	PIGN	Anal atresia	HP:0002023
23556	PIGN	Anal stenosis	HP:0002025
23556	PIGN	Thin vermilion border	HP:0000233
23556	PIGN	Spasticity	HP:0001257
23556	PIGN	Short foot	HP:0001773
23556	PIGN	Fair hair	HP:0002286
23556	PIGN	Non-midline cleft lip	HP:0100335
23556	PIGN	Prominent superior crus of antihelix	HP:0011247
23556	PIGN	Global developmental delay	HP:0001263
23556	PIGN	Large for gestational age	HP:0001520
23556	PIGN	Hyporeflexia	HP:0001265
23556	PIGN	Blepharitis	HP:0000498
23556	PIGN	Choreoathetosis	HP:0001266
23556	PIGN	Variable expressivity	HP:0003828
23556	PIGN	Cerebellar atrophy	HP:0001272
23556	PIGN	Congenital onset	HP:0003577
23556	PIGN	Agenesis of corpus callosum	HP:0001274
23556	PIGN	Generalized muscle weakness	HP:0003324
7173	TPO	Umbilical hernia	HP:0001537
7173	TPO	Intellectual disability	HP:0001249
7173	TPO	Short stature	HP:0004322
7173	TPO	Constipation	HP:0002019
7173	TPO	Muscular hypotonia	HP:0001252
7173	TPO	Abdominal distention	HP:0003270
7173	TPO	Thyroid defect in oxidation and organification of iodide	HP:0008263
7173	TPO	Autosomal recessive inheritance	HP:0000007
7173	TPO	Large fontanelles	HP:0000239
7173	TPO	Global developmental delay	HP:0001263
7173	TPO	Hypersomnia	HP:0100786
7173	TPO	Abnormality of metabolism/homeostasis	HP:0001939
7173	TPO	Goiter	HP:0000853
7173	TPO	Hypothyroidism	HP:0000821
7173	TPO	Coarse facial features	HP:0000280
7173	TPO	Jaundice	HP:0000952
7173	TPO	Fatigue	HP:0012378
7173	TPO	Macroglossia	HP:0000158
7174	TPP2	Splenomegaly	HP:0001744
7174	TPP2	Lymphopenia	HP:0001888
7174	TPP2	Stroke	HP:0001297
7174	TPP2	Autoimmune hemolytic anemia	HP:0001890
7174	TPP2	Hepatitis	HP:0012115
7174	TPP2	Recurrent otitis media	HP:0000403
7174	TPP2	Hemiparesis	HP:0001269
7174	TPP2	Autoimmune thrombocytopenia	HP:0001973
7174	TPP2	Systemic lupus erythematosus	HP:0002725
7174	TPP2	Respiratory tract infection	HP:0011947
7174	TPP2	Lymphadenopathy	HP:0002716
7174	TPP2	Moderate global developmental delay	HP:0011343
23562	CLDN14	Nonprogressive	HP:0003680
23562	CLDN14	Autosomal recessive inheritance	HP:0000007
23562	CLDN14	Sensorineural hearing impairment	HP:0000407
23562	CLDN14	Hearing impairment	HP:0000365
171023	ASXL1	Hyperechogenic pancreas	HP:0006276
171023	ASXL1	Intestinal malrotation	HP:0002566
171023	ASXL1	Autosomal dominant inheritance	HP:0000006
171023	ASXL1	Narrow chest	HP:0000774
171023	ASXL1	Autosomal recessive inheritance	HP:0000007
171023	ASXL1	Syndactyly	HP:0001159
171023	ASXL1	Proptosis	HP:0000520
171023	ASXL1	Delayed peripheral myelination	HP:0011401
171023	ASXL1	Generalized hypotonia	HP:0001290
171023	ASXL1	Thick hair	HP:0100874
171023	ASXL1	Intellectual disability, profound	HP:0002187
171023	ASXL1	Dislocated radial head	HP:0003083
171023	ASXL1	Camptodactyly of finger	HP:0100490
171023	ASXL1	Broad palm	HP:0001169
171023	ASXL1	Somatic mutation	HP:0001428
171023	ASXL1	Long face	HP:0000276
171023	ASXL1	Retrognathia	HP:0000278
171023	ASXL1	Inguinal hernia	HP:0000023
171023	ASXL1	Synophrys	HP:0000664
171023	ASXL1	Polyhydramnios	HP:0001561
171023	ASXL1	Dandy-Walker malformation	HP:0001305
171023	ASXL1	Nevus flammeus	HP:0001052
171023	ASXL1	Tapered finger	HP:0001182
171023	ASXL1	Platyspondyly	HP:0000926
171023	ASXL1	Hypoplasia of the corpus callosum	HP:0002079
171023	ASXL1	Myopia	HP:0000545
171023	ASXL1	Mesomelic/rhizomelic limb shortening	HP:0005026
171023	ASXL1	Underdeveloped supraorbital ridges	HP:0009891
171023	ASXL1	Full cheeks	HP:0000293
171023	ASXL1	Low anterior hairline	HP:0000294
171023	ASXL1	Short toe	HP:0001831
171023	ASXL1	Myelodysplasia	HP:0002863
171023	ASXL1	Cleft palate	HP:0000175
171023	ASXL1	Deep palmar crease	HP:0006191
171023	ASXL1	Wide nasal bridge	HP:0000431
171023	ASXL1	Overlapping toe	HP:0001845
171023	ASXL1	Broad alveolar ridges	HP:0000187
171023	ASXL1	Hypertelorism	HP:0000316
171023	ASXL1	Convex nasal ridge	HP:0000444
171023	ASXL1	Hypoplasia of the brainstem	HP:0002365
171023	ASXL1	Narrow palate	HP:0000189
171023	ASXL1	Accessory oral frenulum	HP:0000191
171023	ASXL1	Sacral dimple	HP:0000960
171023	ASXL1	Feeding difficulties	HP:0011968
171023	ASXL1	Short thorax	HP:0010306
171023	ASXL1	Abnormality of the pancreas	HP:0001732
171023	ASXL1	Upslanted palpebral fissure	HP:0000582
171023	ASXL1	Biparietal narrowing	HP:0004422
171023	ASXL1	Cerebral cortical atrophy	HP:0002120
171023	ASXL1	Facial hemangioma	HP:0000329
171023	ASXL1	Abnormality of the optic nerve	HP:0000587
171023	ASXL1	Vesicoureteral reflux	HP:0000076
171023	ASXL1	Cleft upper lip	HP:0000204
171023	ASXL1	Deep plantar creases	HP:0001869
171023	ASXL1	Abnormality of the kidney	HP:0000077
171023	ASXL1	Abnormal anterior chamber morphology	HP:0000593
171023	ASXL1	Wide intermamillary distance	HP:0006610
171023	ASXL1	Prominent forehead	HP:0011220
171023	ASXL1	Narrow forehead	HP:0000341
171023	ASXL1	Abnormality of cardiovascular system morphology	HP:0030680
171023	ASXL1	Micrognathia	HP:0000347
171023	ASXL1	Talipes	HP:0001883
171023	ASXL1	Joint dislocation	HP:0001373
171023	ASXL1	Ventricular septal defect	HP:0001629
171023	ASXL1	Atrial septal defect	HP:0001631
171023	ASXL1	Limitation of joint mobility	HP:0001376
171023	ASXL1	Camptodactyly	HP:0012385
171023	ASXL1	Seizures	HP:0001250
171023	ASXL1	Short stature	HP:0004322
171023	ASXL1	Elbow dislocation	HP:0003042
171023	ASXL1	Failure to thrive	HP:0001508
171023	ASXL1	Muscular hypotonia	HP:0001252
171023	ASXL1	Gastroesophageal reflux	HP:0002020
171023	ASXL1	Strabismus	HP:0000486
171023	ASXL1	Posteriorly rotated ears	HP:0000358
171023	ASXL1	Intrauterine growth retardation	HP:0001511
171023	ASXL1	Retinopathy	HP:0000488
171023	ASXL1	Ulnar deviation of the wrist	HP:0003049
171023	ASXL1	Gray matter heterotopia	HP:0002282
171023	ASXL1	Short foot	HP:0001773
171023	ASXL1	Hearing impairment	HP:0000365
171023	ASXL1	Prominent metopic ridge	HP:0005487
171023	ASXL1	Global developmental delay	HP:0001263
171023	ASXL1	Hirsutism	HP:0001007
171023	ASXL1	Intellectual disability, severe	HP:0010864
171023	ASXL1	Low-set ears	HP:0000369
171023	ASXL1	Death in infancy	HP:0001522
171023	ASXL1	Trigonocephaly	HP:0000243
171023	ASXL1	Nevus flammeus of the forehead	HP:0007413
171023	ASXL1	Ulnar deviation of finger	HP:0009465
171023	ASXL1	Agenesis of corpus callosum	HP:0001274
171023	ASXL1	Microcephaly	HP:0000252
171023	ASXL1	Supernumerary nipple	HP:0002558
23568	ARL2BP	Abnormal electroretinogram	HP:0000512
23568	ARL2BP	Hyperreflexia	HP:0001347
23568	ARL2BP	Cataract	HP:0000518
23568	ARL2BP	Autosomal recessive inheritance	HP:0000007
23568	ARL2BP	Hypogonadism	HP:0000135
23568	ARL2BP	Optic atrophy	HP:0000648
23568	ARL2BP	Hyperinsulinemia	HP:0000842
23568	ARL2BP	Anteverted nares	HP:0000463
23568	ARL2BP	Conductive hearing impairment	HP:0000405
23568	ARL2BP	Sensorineural hearing impairment	HP:0000407
23568	ARL2BP	Abnormality of retinal pigmentation	HP:0007703
23568	ARL2BP	Ophthalmoplegia	HP:0000602
23568	ARL2BP	Type II diabetes mellitus	HP:0005978
23568	ARL2BP	Atypical scarring of skin	HP:0000987
23568	ARL2BP	Optic disc pallor	HP:0000543
23568	ARL2BP	Situs inversus totalis	HP:0001696
23568	ARL2BP	Hypoplasia of penis	HP:0008736
23568	ARL2BP	Intellectual disability	HP:0001249
23568	ARL2BP	Abnormal testis morphology	HP:0000035
23568	ARL2BP	Photophobia	HP:0000613
23568	ARL2BP	Macular atrophy	HP:0007401
23568	ARL2BP	Obesity	HP:0001513
23568	ARL2BP	Blindness	HP:0000618
23568	ARL2BP	Posterior subcapsular cataract	HP:0007787
23568	ARL2BP	Abnormal retinal vascular morphology	HP:0008046
23568	ARL2BP	Reduced visual acuity	HP:0007663
23568	ARL2BP	Wide nasal bridge	HP:0000431
23568	ARL2BP	Keratoconus	HP:0000563
23568	ARL2BP	Glaucoma	HP:0000501
23568	ARL2BP	Progressive night blindness	HP:0007675
23568	ARL2BP	Rod-cone dystrophy	HP:0000510
23568	ARL2BP	Nystagmus	HP:0000639
7189	TRAF6	Thin skin	HP:0000963
7189	TRAF6	Eczema	HP:0000964
7189	TRAF6	Hypohidrosis	HP:0000966
7189	TRAF6	Abnormality of skin pigmentation	HP:0001000
7189	TRAF6	Depressed nasal ridge	HP:0000457
7189	TRAF6	Hypotrichosis	HP:0001006
7189	TRAF6	Abnormal fingernail morphology	HP:0001231
7189	TRAF6	Abnormality of dental morphology	HP:0006482
7189	TRAF6	Premature loss of primary teeth	HP:0006323
7189	TRAF6	Prominent forehead	HP:0011220
7189	TRAF6	Thick vermilion border	HP:0012471
7189	TRAF6	Sparse body hair	HP:0002231
7189	TRAF6	Hypodontia	HP:0000668
7189	TRAF6	Malignant hyperthermia	HP:0002047
23581	CASP14	Autosomal recessive inheritance	HP:0000007
23581	CASP14	White scaling skin	HP:0040190
7200	TRH	Intellectual disability	HP:0001249
7200	TRH	Short stature	HP:0004322
7200	TRH	Constipation	HP:0002019
7200	TRH	Autosomal recessive inheritance	HP:0000007
7200	TRH	Hoarse voice	HP:0001609
7200	TRH	Muscle weakness	HP:0001324
7200	TRH	Hypothalamic hypothyroidism	HP:0008237
7200	TRH	Dry skin	HP:0000958
7200	TRH	Delayed skeletal maturation	HP:0002750
7201	TRHR	Feeding difficulties	HP:0011968
7201	TRHR	Umbilical hernia	HP:0001537
7201	TRHR	Constipation	HP:0002019
7201	TRHR	Prolonged neonatal jaundice	HP:0006579
7201	TRHR	Hypothyroidism	HP:0000821
7201	TRHR	Growth delay	HP:0001510
7201	TRHR	Coarse facial features	HP:0000280
7201	TRHR	Sleep disturbance	HP:0002360
7201	TRHR	Generalized hypotonia	HP:0001290
7201	TRHR	Large posterior fontanelle	HP:0004491
7201	TRHR	Macroglossia	HP:0000158
7201	TRHR	Global developmental delay	HP:0001263
23586	DDX58	Hyperkeratosis	HP:0000962
23586	DDX58	Short stature	HP:0004322
23586	DDX58	Aortic valve stenosis	HP:0001650
23586	DDX58	Glaucoma	HP:0000501
23586	DDX58	Autosomal dominant inheritance	HP:0000006
7204	TRIO	Feeding difficulties	HP:0011968
7204	TRIO	Brachydactyly	HP:0001156
7204	TRIO	Clinodactyly	HP:0030084
7204	TRIO	Autosomal dominant inheritance	HP:0000006
7204	TRIO	Upslanted palpebral fissure	HP:0000582
7204	TRIO	Aggressive behavior	HP:0000718
7204	TRIO	Macrotia	HP:0000400
7204	TRIO	Obsessive-compulsive behavior	HP:0000722
7204	TRIO	2-3 toe syndactyly	HP:0004691
7204	TRIO	Synophrys	HP:0000664
7204	TRIO	High palate	HP:0000218
7204	TRIO	Micrognathia	HP:0000347
7204	TRIO	High forehead	HP:0000348
7204	TRIO	Hypodontia	HP:0000668
7204	TRIO	Tapered finger	HP:0001182
7204	TRIO	Recurrent infections	HP:0002719
7204	TRIO	Poor speech	HP:0002465
7204	TRIO	Intellectual disability	HP:0001249
7204	TRIO	Seizures	HP:0001250
7204	TRIO	Dental crowding	HP:0000678
7204	TRIO	Attention deficit hyperactivity disorder	HP:0007018
7204	TRIO	Downslanted palpebral fissures	HP:0000494
7204	TRIO	Delayed speech and language development	HP:0000750
7204	TRIO	Motor delay	HP:0001270
7204	TRIO	Thick vermilion border	HP:0012471
7204	TRIO	Kyphosis	HP:0002808
7204	TRIO	Microcephaly	HP:0000252
7204	TRIO	Short nose	HP:0003196
7204	TRIO	Thick eyebrow	HP:0000574
23590	PDSS1	Macrocephaly	HP:0000256
23590	PDSS1	Areflexia	HP:0001284
23590	PDSS1	Cutis marmorata	HP:0000965
23590	PDSS1	Mitral regurgitation	HP:0001653
23590	PDSS1	Peripheral neuropathy	HP:0009830
23590	PDSS1	Increased serum lactate	HP:0002151
23590	PDSS1	Autosomal recessive inheritance	HP:0000007
23590	PDSS1	Optic atrophy	HP:0000648
23590	PDSS1	Intellectual disability, mild	HP:0001256
23590	PDSS1	Obesity	HP:0001513
23590	PDSS1	Aortic regurgitation	HP:0001659
23590	PDSS1	Pulmonary arterial hypertension	HP:0002092
23592	LEMD3	Skeletal muscle atrophy	HP:0003202
23592	LEMD3	Arnold-Chiari malformation	HP:0002308
23592	LEMD3	Hemangioma	HP:0001028
23592	LEMD3	Intestinal malrotation	HP:0002566
23592	LEMD3	Autosomal dominant inheritance	HP:0000006
23592	LEMD3	Arthralgia	HP:0002829
23592	LEMD3	Abnormal aortic morphology	HP:0001679
23592	LEMD3	Complete duplication of the distal phalanges of the hand	HP:0010001
23592	LEMD3	Synophrys	HP:0000664
23592	LEMD3	Downturned corners of mouth	HP:0002714
23592	LEMD3	Hypodontia	HP:0000668
23592	LEMD3	Generalized osteosclerosis	HP:0005789
23592	LEMD3	Abnormal cortical bone morphology	HP:0003103
23592	LEMD3	Connective tissue nevi	HP:0100898
23592	LEMD3	Abnormality of the dentition	HP:0000164
23592	LEMD3	Hyperostosis	HP:0100774
23592	LEMD3	Abnormality of the nares	HP:0005288
23592	LEMD3	Prominent nasal bridge	HP:0000426
23592	LEMD3	Abnormality of epiphysis morphology	HP:0005930
23592	LEMD3	Specific learning disability	HP:0001328
23592	LEMD3	Abnormality of the metaphysis	HP:0000944
23592	LEMD3	Diabetes mellitus	HP:0000819
23592	LEMD3	Hypertension	HP:0000822
23592	LEMD3	Hyperpigmentation of the skin	HP:0000953
23592	LEMD3	Tremor	HP:0001337
23592	LEMD3	Cutaneous finger syndactyly	HP:0010554
23592	LEMD3	Hypertelorism	HP:0000316
23592	LEMD3	Wide nose	HP:0000445
23592	LEMD3	Thick eyebrow	HP:0000574
23592	LEMD3	Diffuse skin atrophy	HP:0007488
23592	LEMD3	Syringomyelia	HP:0003396
23592	LEMD3	Triangular face	HP:0000325
23592	LEMD3	Recurrent fractures	HP:0002757
23592	LEMD3	Hoarse voice	HP:0001609
23592	LEMD3	Subcutaneous nodule	HP:0001482
23592	LEMD3	Abnormality of the spleen	HP:0001743
23592	LEMD3	Renal insufficiency	HP:0000083
23592	LEMD3	Craniosynostosis	HP:0001363
23592	LEMD3	Horseshoe kidney	HP:0000085
23592	LEMD3	Ectopic kidney	HP:0000086
23592	LEMD3	Palmoplantar keratoderma	HP:0000982
23592	LEMD3	Frontal bossing	HP:0002007
23592	LEMD3	Renal hypoplasia	HP:0000089
23592	LEMD3	Arthritis	HP:0001369
23592	LEMD3	Generalized hypopigmentation	HP:0007513
23592	LEMD3	Scoliosis	HP:0002650
23592	LEMD3	Micrognathia	HP:0000347
23592	LEMD3	Flexion contracture	HP:0001371
23592	LEMD3	Atypical scarring of skin	HP:0000987
23592	LEMD3	Skeletal dysplasia	HP:0002652
23592	LEMD3	Flat occiput	HP:0005469
23592	LEMD3	Bone pain	HP:0002653
23592	LEMD3	Generalized limb muscle atrophy	HP:0009055
23592	LEMD3	Papule	HP:0200034
23592	LEMD3	Short stature	HP:0004322
23592	LEMD3	Failure to thrive	HP:0001508
23592	LEMD3	Muscular hypotonia	HP:0001252
23592	LEMD3	Scleroderma	HP:0100324
23592	LEMD3	Strabismus	HP:0000486
23592	LEMD3	Intrauterine growth retardation	HP:0001511
23592	LEMD3	Intellectual disability, mild	HP:0001256
23592	LEMD3	Thin vermilion border	HP:0000233
23592	LEMD3	Deeply set eye	HP:0000490
23592	LEMD3	Joint stiffness	HP:0001387
23592	LEMD3	Lymphedema	HP:0001004
23592	LEMD3	Hearing impairment	HP:0000365
23592	LEMD3	Delayed speech and language development	HP:0000750
23592	LEMD3	Global developmental delay	HP:0001263
23592	LEMD3	Clinodactyly of the 5th finger	HP:0004209
23592	LEMD3	Osteopoikilosis	HP:0010739
23592	LEMD3	Multiple lipomas	HP:0001012
23592	LEMD3	Visual impairment	HP:0000505
23592	LEMD3	Microcephaly	HP:0000252
23592	LEMD3	Myalgia	HP:0003326
220202	ATOH7	Remnants of the hyaloid vascular system	HP:0007968
220202	ATOH7	Microcornea	HP:0000482
220202	ATOH7	Iris coloboma	HP:0000612
220202	ATOH7	Cataract	HP:0000518
220202	ATOH7	Autosomal recessive inheritance	HP:0000007
220202	ATOH7	Uveitis	HP:0000554
220202	ATOH7	Leukocoria	HP:0000555
220202	ATOH7	Pendular nystagmus	HP:0012043
220202	ATOH7	Buphthalmos	HP:0000557
220202	ATOH7	Hyphema	HP:0011886
220202	ATOH7	Shallow anterior chamber	HP:0000594
220202	ATOH7	Retinal fold	HP:0008052
220202	ATOH7	Esotropia	HP:0000565
220202	ATOH7	Corneal opacity	HP:0007957
220202	ATOH7	Microphthalmia	HP:0000568
220202	ATOH7	Phthisis bulbi	HP:0000667
220202	ATOH7	Retinal nonattachment	HP:0007899
220202	ATOH7	Posterior synechiae of the anterior chamber	HP:0011484
220202	ATOH7	Persistent pupillary membrane	HP:0009917
23594	ORC6	Microtia, third degree	HP:0011267
23594	ORC6	Aplastic clavicle	HP:0006660
23594	ORC6	Abnormality of the ribs	HP:0000772
23594	ORC6	Recurrent pneumonia	HP:0006532
23594	ORC6	Short ribs	HP:0000773
23594	ORC6	Narrow chest	HP:0000774
23594	ORC6	Autosomal recessive inheritance	HP:0000007
23594	ORC6	Camptodactyly of finger	HP:0100490
23594	ORC6	High, narrow palate	HP:0002705
23594	ORC6	Retrognathia	HP:0000278
23594	ORC6	Genu varum	HP:0002970
23594	ORC6	Slender long bone	HP:0003100
23594	ORC6	Cryptorchidism	HP:0000028
23594	ORC6	Atresia of the external auditory canal	HP:0000413
23594	ORC6	Hypoplasia of penis	HP:0008736
23594	ORC6	Narrow mouth	HP:0000160
23594	ORC6	Anotia	HP:0009892
23594	ORC6	Epispadias	HP:0000039
23594	ORC6	Sparse axillary hair	HP:0002215
23594	ORC6	Abnormality of epiphysis morphology	HP:0005930
23594	ORC6	Prominent nasal bridge	HP:0000426
23594	ORC6	Patellar aplasia	HP:0006443
23594	ORC6	Breast aplasia	HP:0100783
23594	ORC6	Scrotal hypoplasia	HP:0000046
23594	ORC6	Dyspnea	HP:0002094
23594	ORC6	Hypospadias	HP:0000047
23594	ORC6	Specific learning disability	HP:0001328
23594	ORC6	Submucous cleft hard palate	HP:0000176
23594	ORC6	Sparse pubic hair	HP:0002225
23594	ORC6	Respiratory distress	HP:0002098
23594	ORC6	Thick lower lip vermilion	HP:0000179
23594	ORC6	Microretrognathia	HP:0000308
23594	ORC6	Severe short stature	HP:0003510
23594	ORC6	Micropenis	HP:0000054
23594	ORC6	Thick vermilion border	HP:0012471
23594	ORC6	Hypoplastic labia majora	HP:0000059
23594	ORC6	Clitoral hypoplasia	HP:0000060
23594	ORC6	Joint hyperflexibility	HP:0005692
23594	ORC6	Respiratory failure	HP:0002878
23594	ORC6	Delayed skeletal maturation	HP:0002750
23594	ORC6	Hypoplastic labia minora	HP:0000064
23594	ORC6	Feeding difficulties	HP:0011968
23594	ORC6	Bifid uvula	HP:0000193
23594	ORC6	Laryngomalacia	HP:0001601
23594	ORC6	Short thorax	HP:0010306
23594	ORC6	Triangular face	HP:0000325
23594	ORC6	Hypoplasia of the maxilla	HP:0000327
23594	ORC6	Mandibular aplasia	HP:0009939
23594	ORC6	Craniosynostosis	HP:0001363
23594	ORC6	Clitoral hypertrophy	HP:0008665
23594	ORC6	Micrognathia	HP:0000347
23594	ORC6	Tracheomalacia	HP:0002779
23594	ORC6	Bronchomalacia	HP:0002780
23594	ORC6	Intellectual disability	HP:0001249
23594	ORC6	Elbow dislocation	HP:0003042
23594	ORC6	Talipes equinovarus	HP:0001762
23594	ORC6	Aplasia/Hypoplasia of the patella	HP:0006498
23594	ORC6	Failure to thrive	HP:0001508
23594	ORC6	Gastroesophageal reflux	HP:0002020
23594	ORC6	Absent sternal ossification	HP:0006628
23594	ORC6	Posteriorly rotated ears	HP:0000358
23594	ORC6	Intrauterine growth retardation	HP:0001511
23594	ORC6	Microtia	HP:0008551
23594	ORC6	Birth length less than 3rd percentile	HP:0003561
23594	ORC6	Hearing impairment	HP:0000365
23594	ORC6	Downslanted palpebral fissures	HP:0000494
23594	ORC6	Delayed speech and language development	HP:0000750
23594	ORC6	Global developmental delay	HP:0001263
23594	ORC6	Clinodactyly of the 5th finger	HP:0004209
23594	ORC6	Low-set ears	HP:0000369
23594	ORC6	Breast hypoplasia	HP:0003187
23594	ORC6	Motor delay	HP:0001270
23594	ORC6	Microcephaly	HP:0000252
23594	ORC6	Coxa vara	HP:0002812
23600	AMACR	Hepatomegaly	HP:0002240
23600	AMACR	Pigmentary retinopathy	HP:0000580
23600	AMACR	Fat malabsorption	HP:0002630
23600	AMACR	Autosomal recessive inheritance	HP:0000007
23600	AMACR	Depressivity	HP:0000716
23600	AMACR	Encephalopathy	HP:0001298
23600	AMACR	Status epilepticus	HP:0002133
23600	AMACR	Giant cell hepatitis	HP:0200084
23600	AMACR	Frontal bossing	HP:0002007
23600	AMACR	Hyperbilirubinemia	HP:0002904
23600	AMACR	Type II diabetes mellitus	HP:0005978
23600	AMACR	Migraine	HP:0002076
23600	AMACR	Elevated hepatic transaminase	HP:0002910
23600	AMACR	Epicanthus	HP:0000286
23600	AMACR	Seizures	HP:0001250
23600	AMACR	Ataxia	HP:0001251
23600	AMACR	Failure to thrive	HP:0001508
23600	AMACR	Sensorimotor neuropathy	HP:0007141
23600	AMACR	Peripheral neuropathy	HP:0009830
23600	AMACR	Neonatal onset	HP:0003623
23600	AMACR	Spasticity	HP:0001257
23600	AMACR	Dysarthria	HP:0001260
23600	AMACR	Bilateral single transverse palmar creases	HP:0007598
23600	AMACR	Hypergonadotropic hypogonadism	HP:0000815
23600	AMACR	Iris hypopigmentation	HP:0007730
23600	AMACR	Cirrhosis	HP:0001394
23600	AMACR	Prolonged neonatal jaundice	HP:0006579
23600	AMACR	Cholestasis	HP:0001396
23600	AMACR	Hepatic failure	HP:0001399
23600	AMACR	Abnormality of the coagulation cascade	HP:0003256
23600	AMACR	Biliary tract abnormality	HP:0001080
23600	AMACR	Tremor	HP:0001337
23600	AMACR	Visual impairment	HP:0000505
23600	AMACR	Intrahepatic cholestasis	HP:0001406
7222	TRPC3	Gait ataxia	HP:0002066
7222	TRPC3	Ataxia	HP:0001251
7222	TRPC3	Autosomal dominant inheritance	HP:0000006
7222	TRPC3	Cerebellar vermis atrophy	HP:0006855
7222	TRPC3	Cerebellar atrophy	HP:0001272
7222	TRPC3	Postural instability	HP:0002172
7222	TRPC3	Progressive	HP:0003676
7222	TRPC3	Adult onset	HP:0003581
7222	TRPC3	Unsteady gait	HP:0002317
23607	CD2AP	Focal segmental glomerulosclerosis	HP:0000097
23607	CD2AP	Renal insufficiency	HP:0000083
23607	CD2AP	Hematuria	HP:0000790
23607	CD2AP	Hypertension	HP:0000822
23607	CD2AP	Proteinuria	HP:0000093
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
7225	TRPC6	Stage 5 chronic kidney disease	HP:0003774
392255	GDF6	Abnormal electroretinogram	HP:0000512
392255	GDF6	Brachydactyly	HP:0001156
392255	GDF6	Abnormality of the ribs	HP:0000772
392255	GDF6	Autosomal dominant inheritance	HP:0000006
392255	GDF6	Cataract	HP:0000518
392255	GDF6	Autosomal recessive inheritance	HP:0000007
392255	GDF6	Abnormal vertebral segmentation and fusion	HP:0005640
392255	GDF6	Abnormal cranial nerve morphology	HP:0001291
392255	GDF6	Sprengel anomaly	HP:0000912
392255	GDF6	Heterogeneous	HP:0001425
392255	GDF6	Hemiplegia/hemiparesis	HP:0004374
392255	GDF6	Abnormality of retinal pigmentation	HP:0007703
392255	GDF6	Mixed hearing impairment	HP:0000410
392255	GDF6	Ultra-low vision with retained motion projection	HP:0032284
392255	GDF6	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
392255	GDF6	Postaxial polydactyly	HP:0100259
392255	GDF6	Encephalocele	HP:0002084
392255	GDF6	Ectopic anus	HP:0004397
392255	GDF6	Cleft palate	HP:0000175
392255	GDF6	Tarsal synostosis	HP:0008368
392255	GDF6	Keratoconus	HP:0000563
392255	GDF6	Overlapping toe	HP:0001845
392255	GDF6	Abnormal temporal bone morphology	HP:0009911
392255	GDF6	Bimanual synkinesia	HP:0001335
392255	GDF6	Microphthalmia	HP:0000568
392255	GDF6	Cognitive impairment	HP:0100543
392255	GDF6	Facial asymmetry	HP:0000324
392255	GDF6	Hypoplasia of the fovea	HP:0007750
392255	GDF6	Coloboma	HP:0000589
392255	GDF6	Webbed neck	HP:0000465
392255	GDF6	Bilateral microphthalmos	HP:0007633
392255	GDF6	Limited neck range of motion	HP:0000466
392255	GDF6	Short neck	HP:0000470
392255	GDF6	Optic disc hypoplasia	HP:0007766
392255	GDF6	Abnormality of cardiovascular system morphology	HP:0030680
392255	GDF6	Scoliosis	HP:0002650
392255	GDF6	Abnormality of neuronal migration	HP:0002269
392255	GDF6	Ventricular septal defect	HP:0001629
392255	GDF6	Intellectual disability	HP:0001249
392255	GDF6	Seizures	HP:0001250
392255	GDF6	Pes planus	HP:0001763
392255	GDF6	Abnormality of the shoulder	HP:0003043
392255	GDF6	Muscular hypotonia	HP:0001252
392255	GDF6	Congenital muscular torticollis	HP:0005988
392255	GDF6	Absent testis	HP:0010469
392255	GDF6	Renal hypoplasia/aplasia	HP:0008678
392255	GDF6	Anal atresia	HP:0002023
392255	GDF6	Digenic inheritance	HP:0010984
392255	GDF6	Broad foot	HP:0001769
392255	GDF6	Otosclerosis	HP:0000362
392255	GDF6	Hearing impairment	HP:0000365
392255	GDF6	Spina bifida	HP:0002414
392255	GDF6	Global developmental delay	HP:0001263
392255	GDF6	Low posterior hairline	HP:0002162
392255	GDF6	Abnormal sacrum morphology	HP:0005107
392255	GDF6	Variable expressivity	HP:0003828
392255	GDF6	Severely reduced visual acuity	HP:0001141
392255	GDF6	Cervicomedullary schisis	HP:0030325
392255	GDF6	Visual impairment	HP:0000505
392255	GDF6	Cervical C2/C3 vertebral fusion	HP:0004602
392255	GDF6	Unilateral renal agenesis	HP:0000122
392255	GDF6	Abnormality of the optic disc	HP:0012795
392255	GDF6	Posterior fossa cyst	HP:0007291
392255	GDF6	Abnormality of limb bone morphology	HP:0002813
392255	GDF6	Nystagmus	HP:0000639
7227	TRPS1	Pectus carinatum	HP:0000768
7227	TRPS1	Brachydactyly	HP:0001156
7227	TRPS1	Sparse hair	HP:0008070
7227	TRPS1	Autosomal dominant inheritance	HP:0000006
7227	TRPS1	Shortening of all phalanges of fingers	HP:0011910
7227	TRPS1	Generalized hypotonia	HP:0001290
7227	TRPS1	Recurrent urinary tract infections	HP:0000010
7227	TRPS1	Camptodactyly of finger	HP:0100490
7227	TRPS1	Ivory epiphyses of the distal phalanges of the hand	HP:0010252
7227	TRPS1	Arthralgia	HP:0002829
7227	TRPS1	Sparse eyelashes	HP:0000653
7227	TRPS1	Macrotia	HP:0000400
7227	TRPS1	Fragile nails	HP:0001808
7227	TRPS1	Thin eyebrow	HP:0045074
7227	TRPS1	Cone-shaped epiphyses of the middle phalanges of the hand	HP:0010259
7227	TRPS1	Conductive hearing impairment	HP:0000405
7227	TRPS1	Sparse and thin eyebrow	HP:0000535
7227	TRPS1	Thin nail	HP:0001816
7227	TRPS1	Short distal phalanx of finger	HP:0009882
7227	TRPS1	Protruding ear	HP:0000411
7227	TRPS1	Leukonychia	HP:0001820
7227	TRPS1	Recurrent respiratory infections	HP:0002205
7227	TRPS1	Carious teeth	HP:0000670
7227	TRPS1	Cone-shaped epiphyses of the proximal phalanges of the hand	HP:0010270
7227	TRPS1	Bulbous nose	HP:0000414
7227	TRPS1	Aplasia/Hypoplasia of the mandible	HP:0009118
7227	TRPS1	Sparse scalp hair	HP:0002209
7227	TRPS1	Short finger	HP:0009381
7227	TRPS1	Fine hair	HP:0002213
7227	TRPS1	Dental crowding	HP:0000678
7227	TRPS1	Slow-growing hair	HP:0002217
7227	TRPS1	Genu valgum	HP:0002857
7227	TRPS1	Osteopenia	HP:0000938
7227	TRPS1	Flat capital femoral epiphysis	HP:0003370
7227	TRPS1	Delayed eruption of teeth	HP:0000684
7227	TRPS1	Underdeveloped nasal alae	HP:0000430
7227	TRPS1	Abnormal palate morphology	HP:0000174
7227	TRPS1	Bilateral single transverse palmar creases	HP:0007598
7227	TRPS1	Redundant skin	HP:0001582
7227	TRPS1	Chin with horizontal crease	HP:0011823
7227	TRPS1	Wide nasal bridge	HP:0000431
7227	TRPS1	Multiple long-bone exostoses	HP:0005039
7227	TRPS1	Dental malocclusion	HP:0000689
7227	TRPS1	Microdontia	HP:0000691
7227	TRPS1	Short palm	HP:0004279
7227	TRPS1	Abnormally low-pitched voice	HP:0010300
7227	TRPS1	Joint hyperflexibility	HP:0005692
7227	TRPS1	Increased number of teeth	HP:0011069
7227	TRPS1	Narrow palate	HP:0000189
7227	TRPS1	Delayed skeletal maturation	HP:0002750
7227	TRPS1	Concave nail	HP:0001598
7227	TRPS1	Thick eyebrow	HP:0000574
7227	TRPS1	Smooth philtrum	HP:0000319
7227	TRPS1	Pear-shaped nose	HP:0000447
7227	TRPS1	Short metacarpal	HP:0010049
7227	TRPS1	Abnormality of the nervous system	HP:0000707
7227	TRPS1	Triangular face	HP:0000325
7227	TRPS1	Osteoarthritis	HP:0002758
7227	TRPS1	Ventriculomegaly	HP:0002119
7227	TRPS1	Thick nasal alae	HP:0009928
7227	TRPS1	Short phalanx of finger	HP:0009803
7227	TRPS1	Vesicoureteral reflux	HP:0000076
7227	TRPS1	Long upper lip	HP:0011341
7227	TRPS1	Coxa magna	HP:0003279
7227	TRPS1	Deep philtrum	HP:0002002
7227	TRPS1	Cone-shaped epiphysis	HP:0010579
7227	TRPS1	Long philtrum	HP:0000343
7227	TRPS1	Frontal bossing	HP:0002007
7227	TRPS1	Abnormality of cardiovascular system morphology	HP:0030680
7227	TRPS1	Sparse lateral eyebrow	HP:0005338
7227	TRPS1	Scoliosis	HP:0002650
7227	TRPS1	High palate	HP:0000218
7227	TRPS1	Thin upper lip vermilion	HP:0000219
7227	TRPS1	Micrognathia	HP:0000347
7227	TRPS1	Talipes	HP:0001883
7227	TRPS1	Joint dislocation	HP:0001373
7227	TRPS1	Bone pain	HP:0002653
7227	TRPS1	Intellectual disability	HP:0001249
7227	TRPS1	Short stature	HP:0004322
7227	TRPS1	Pes planus	HP:0001763
7227	TRPS1	Muscular hypotonia	HP:0001252
7227	TRPS1	Hip dysplasia	HP:0001385
7227	TRPS1	Hyperlordosis	HP:0003307
7227	TRPS1	Scapular winging	HP:0003691
7227	TRPS1	Short foot	HP:0001773
7227	TRPS1	Swelling of proximal interphalangeal joints	HP:0006253
7227	TRPS1	Avascular necrosis of the capital femoral epiphysis	HP:0005743
7227	TRPS1	Low-set, posteriorly rotated ears	HP:0000368
7227	TRPS1	Clinodactyly of the 5th finger	HP:0004209
7227	TRPS1	Infantile muscular hypotonia	HP:0008947
7227	TRPS1	Accelerated bone age after puberty	HP:0002805
7227	TRPS1	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
7227	TRPS1	Short metatarsal	HP:0010743
7227	TRPS1	Microcephaly	HP:0000252
64581	CLEC7A	Dyspareunia	HP:0030016
64581	CLEC7A	Hyperkeratosis	HP:0000962
64581	CLEC7A	Abnormal toenail morphology	HP:0008388
64581	CLEC7A	Autosomal recessive inheritance	HP:0000007
64581	CLEC7A	Recurrent urinary tract infections	HP:0000010
64581	CLEC7A	Abnormal vagina morphology	HP:0000142
64581	CLEC7A	Abnormal fingernail morphology	HP:0001231
64581	CLEC7A	Abnormality of temperature regulation	HP:0004370
64581	CLEC7A	Abnormal endocardium morphology	HP:0004306
64581	CLEC7A	Hepatitis	HP:0012115
64581	CLEC7A	Hematuria	HP:0000790
64581	CLEC7A	Cheilitis	HP:0100825
64581	CLEC7A	Skin rash	HP:0000988
64581	CLEC7A	Broad nail	HP:0001821
64581	CLEC7A	Pruritus	HP:0000989
64581	CLEC7A	Recurrent respiratory infections	HP:0002205
64581	CLEC7A	Erythema	HP:0010783
64581	CLEC7A	Papule	HP:0200034
64581	CLEC7A	Seizures	HP:0001250
64581	CLEC7A	Feeding difficulties in infancy	HP:0008872
64581	CLEC7A	Skin ulcer	HP:0200042
64581	CLEC7A	Abnormality of dental enamel	HP:0000682
64581	CLEC7A	Onychomycosis	HP:0012203
64581	CLEC7A	Recurrent vulvovaginal candidiasis	HP:0012204
64581	CLEC7A	Abnormality of vision	HP:0000504
64581	CLEC7A	Hemoptysis	HP:0002105
64581	CLEC7A	Cough	HP:0012735
23630	KCNE5	Depressed nasal bridge	HP:0005280
23630	KCNE5	Myopia	HP:0000545
23630	KCNE5	Muscular hypotonia	HP:0001252
23630	KCNE5	Strabismus	HP:0000486
23630	KCNE5	Thin vermilion border	HP:0000233
23630	KCNE5	Patent ductus arteriosus	HP:0001643
23630	KCNE5	Hearing impairment	HP:0000365
23630	KCNE5	Abnormal aortic valve morphology	HP:0001646
23630	KCNE5	Downslanted palpebral fissures	HP:0000494
23630	KCNE5	Anteverted nares	HP:0000463
23630	KCNE5	Abnormality of the metaphysis	HP:0000944
23630	KCNE5	Intellectual disability, severe	HP:0010864
23630	KCNE5	Malar flattening	HP:0000272
23630	KCNE5	Renal insufficiency	HP:0000083
23630	KCNE5	Glomerulopathy	HP:0100820
23630	KCNE5	Thick vermilion border	HP:0012471
23630	KCNE5	Microscopic hematuria	HP:0002907
23630	KCNE5	Abnormal hair morphology	HP:0001595
23630	KCNE5	Increased number of teeth	HP:0011069
23630	KCNE5	Elliptocytosis	HP:0004445
23630	KCNE5	Proteinuria	HP:0000093
23630	KCNE5	Tapered finger	HP:0001182
203859	ANO5	Genu recurvatum	HP:0002816
203859	ANO5	Rhabdomyolysis	HP:0003201
203859	ANO5	Limb-girdle muscular dystrophy	HP:0006785
203859	ANO5	EMG: myopathic abnormalities	HP:0003458
203859	ANO5	Broad jaw	HP:0012802
203859	ANO5	Facial palsy	HP:0010628
203859	ANO5	Fatty replacement of skeletal muscle	HP:0012548
203859	ANO5	Internally nucleated skeletal muscle fibers	HP:0031237
203859	ANO5	Autosomal dominant inheritance	HP:0000006
203859	ANO5	Autosomal recessive inheritance	HP:0000007
203859	ANO5	Hamstring contractures	HP:0003089
203859	ANO5	EMG: myotonic runs	HP:0003730
203859	ANO5	Calf muscle hypertrophy	HP:0008981
203859	ANO5	Highly elevated creatine kinase	HP:0030234
203859	ANO5	Exercise-induced myalgia	HP:0003738
203859	ANO5	EMG: axonal abnormality	HP:0003482
203859	ANO5	Distal muscle weakness	HP:0002460
203859	ANO5	Pelvic girdle muscle atrophy	HP:0008988
203859	ANO5	Proximal muscle weakness in lower limbs	HP:0008994
203859	ANO5	Elevated serum creatine kinase	HP:0003236
203859	ANO5	Pelvic girdle muscle weakness	HP:0003749
203859	ANO5	Proximal muscle weakness in upper limbs	HP:0008997
203859	ANO5	Thickened cortex of long bones	HP:0000935
203859	ANO5	Upper limb amyotrophy	HP:0009129
203859	ANO5	Osteopenia	HP:0000938
203859	ANO5	Lower limb amyotrophy	HP:0007210
203859	ANO5	Elbow flexion contracture	HP:0002987
203859	ANO5	Difficulty walking	HP:0002355
203859	ANO5	Diaphyseal cortical sclerosis	HP:0005045
203859	ANO5	Increased connective tissue	HP:0009025
203859	ANO5	Ankle contracture	HP:0006466
203859	ANO5	Recurrent fractures	HP:0002757
203859	ANO5	Muscle fiber atrophy	HP:0100295
203859	ANO5	Increased endomysial connective tissue	HP:0100297
203859	ANO5	Mandibular osteomyelitis	HP:0007626
203859	ANO5	Waddling gait	HP:0002515
203859	ANO5	Difficulty running	HP:0009046
203859	ANO5	Bowing of the long bones	HP:0006487
203859	ANO5	Wrist flexion contracture	HP:0001239
203859	ANO5	Quadriceps muscle atrophy	HP:0009050
203859	ANO5	Scoliosis	HP:0002650
203859	ANO5	Shoulder girdle muscle weakness	HP:0003547
203859	ANO5	Progressive	HP:0003676
203859	ANO5	Distal lower limb muscle weakness	HP:0009053
203859	ANO5	Difficulty climbing stairs	HP:0003551
203859	ANO5	Muscle stiffness	HP:0003552
203859	ANO5	Myoglobinuria	HP:0002913
203859	ANO5	Increased susceptibility to fractures	HP:0002659
203859	ANO5	Muscle fiber splitting	HP:0003555
203859	ANO5	Increased variability in muscle fiber diameter	HP:0003557
203859	ANO5	Cardiomyopathy	HP:0001638
203859	ANO5	Muscular dystrophy	HP:0003560
203859	ANO5	Scapular winging	HP:0003691
203859	ANO5	Distal amyotrophy	HP:0003693
203859	ANO5	Progressive proximal muscle weakness	HP:0009073
203859	ANO5	Flexion contracture of finger	HP:0012785
203859	ANO5	Variable expressivity	HP:0003828
203859	ANO5	Proximal muscle weakness	HP:0003701
203859	ANO5	EMG: neuropathic changes	HP:0003445
203859	ANO5	Calf muscle pseudohypertrophy	HP:0003707
203859	ANO5	Adult onset	HP:0003581
203859	ANO5	Myalgia	HP:0003326
7248	TSC1	Cardiac rhabdomyoma	HP:0009729
7248	TSC1	Macrodactyly	HP:0004099
7248	TSC1	Ascites	HP:0001541
7248	TSC1	Optic nerve glioma	HP:0009734
7248	TSC1	Autosomal dominant inheritance	HP:0000006
7248	TSC1	Abnormality of female internal genitalia	HP:0000008
7248	TSC1	Infantile onset	HP:0003593
7248	TSC1	Chordoma	HP:0010762
7248	TSC1	Prominent occiput	HP:0000269
7248	TSC1	Hematuria	HP:0000790
7248	TSC1	Confetti-like hypopigmented macules	HP:0007449
7248	TSC1	Nevus flammeus	HP:0001052
7248	TSC1	Hypopigmented skin patches	HP:0001053
7248	TSC1	Abnormality of the respiratory system	HP:0002086
7248	TSC1	Hemimegalencephaly	HP:0007206
7248	TSC1	Restrictive ventilatory defect	HP:0002091
7248	TSC1	Respiratory insufficiency	HP:0002093
7248	TSC1	Dyspnea	HP:0002094
7248	TSC1	Specific learning disability	HP:0001328
7248	TSC1	Emphysema	HP:0002097
7248	TSC1	EEG abnormality	HP:0002353
7248	TSC1	Focal cortical dysplasia type II	HP:0032051
7248	TSC1	Hypothyroidism	HP:0000821
7248	TSC1	Abnormal urinary color	HP:0012086
7248	TSC1	Hemoptysis	HP:0002105
7248	TSC1	Dilatation	HP:0002617
7248	TSC1	Precocious puberty	HP:0000826
7248	TSC1	Pneumothorax	HP:0002107
7248	TSC1	Pulmonary infiltrates	HP:0002113
7248	TSC1	Chylothorax	HP:0010310
7248	TSC1	Ependymoma	HP:0002888
7248	TSC1	Chylopericardium	HP:0011852
7248	TSC1	Neoplasm of the pancreas	HP:0002894
7248	TSC1	Focal impaired awareness seizure	HP:0002384
7248	TSC1	Projection of scalp hair onto lateral cheek	HP:0009554
7248	TSC1	Renal insufficiency	HP:0000083
7248	TSC1	Fatigue	HP:0012378
7248	TSC1	Premature chromatid separation	HP:0200024
7248	TSC1	Papule	HP:0200034
7248	TSC1	Congestive heart failure	HP:0001635
7248	TSC1	Iris coloboma	HP:0000612
7248	TSC1	Attention deficit hyperactivity disorder	HP:0007018
7248	TSC1	Renal cyst	HP:0000107
7248	TSC1	Abnormality of the liver	HP:0001392
7248	TSC1	Skin tags	HP:0010609
7248	TSC1	Renal angiomyolipoma	HP:0006772
7248	TSC1	Angiofibromas	HP:0010615
7248	TSC1	Astrocytoma	HP:0009592
7248	TSC1	Retinal hamartoma	HP:0009594
7248	TSC1	Focal white matter lesions	HP:0007042
7248	TSC1	Optic atrophy	HP:0000648
7248	TSC1	Chest pain	HP:0100749
7248	TSC1	Multiple cafe-au-lait spots	HP:0007565
7248	TSC1	Astrocytosis	HP:0002446
7248	TSC1	Atelectasis	HP:0100750
7248	TSC1	Heterogeneous	HP:0001425
7248	TSC1	Somatic mutation	HP:0001428
7248	TSC1	Fever	HP:0001945
7248	TSC1	Arrhythmia	HP:0011675
7248	TSC1	Lymphadenopathy	HP:0002716
7248	TSC1	Recurrent respiratory infections	HP:0002205
7248	TSC1	Sporadic	HP:0003745
7248	TSC1	Gingival fibromatosis	HP:0000169
7248	TSC1	Wolff-Parkinson-White syndrome	HP:0001716
7248	TSC1	Infantile spasms	HP:0012469
7248	TSC1	Multiple renal cysts	HP:0005562
7248	TSC1	Macule	HP:0012733
7248	TSC1	Cafe-au-lait spot	HP:0000957
7248	TSC1	Cognitive impairment	HP:0100543
7248	TSC1	Gastrointestinal hemorrhage	HP:0002239
7248	TSC1	Cough	HP:0012735
7248	TSC1	Behavioral abnormality	HP:0000708
7248	TSC1	Ungual fibroma	HP:0100804
7248	TSC1	Subcutaneous nodule	HP:0001482
7248	TSC1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
7248	TSC1	Autism	HP:0000717
7248	TSC1	Renal cell carcinoma	HP:0005584
7248	TSC1	Cerebral calcification	HP:0002514
7248	TSC1	Increased intracranial pressure	HP:0002516
7248	TSC1	Intellectual disability	HP:0001249
7248	TSC1	Seizures	HP:0001250
7248	TSC1	Gingivitis	HP:0000230
7248	TSC1	Abnormality of skin pigmentation	HP:0001000
7248	TSC1	Abdominal pain	HP:0002027
7248	TSC1	Cortical dysplasia	HP:0002539
7248	TSC1	Lymphedema	HP:0001004
7248	TSC1	Hydrocephalus	HP:0000238
7248	TSC1	Global developmental delay	HP:0001263
7248	TSC1	Subependymal nodules	HP:0009716
7248	TSC1	Cortical tubers	HP:0009717
7248	TSC1	Hemiparesis	HP:0001269
7248	TSC1	Subependymal giant-cell astrocytoma	HP:0009718
7248	TSC1	Hypomelanotic macule	HP:0009719
7248	TSC1	Adenoma sebaceum	HP:0009720
7248	TSC1	Shagreen patch	HP:0009721
7248	TSC1	Dental enamel pits	HP:0009722
7248	TSC1	Subungual fibromas	HP:0009724
7248	TSC1	Adult onset	HP:0003581
7248	TSC1	Pulmonary lymphangiomyomatosis	HP:0012798
7248	TSC1	Achromatic retinal patches	HP:0009727
7249	TSC2	Cardiac rhabdomyoma	HP:0009729
7249	TSC2	Focal white matter lesions	HP:0007042
7249	TSC2	Macrodactyly	HP:0004099
7249	TSC2	Ascites	HP:0001541
7249	TSC2	Optic nerve glioma	HP:0009734
7249	TSC2	Autosomal dominant inheritance	HP:0000006
7249	TSC2	Optic atrophy	HP:0000648
7249	TSC2	Abnormality of female internal genitalia	HP:0000008
7249	TSC2	Infantile onset	HP:0003593
7249	TSC2	Chordoma	HP:0010762
7249	TSC2	Chest pain	HP:0100749
7249	TSC2	Multiple cafe-au-lait spots	HP:0007565
7249	TSC2	Prominent occiput	HP:0000269
7249	TSC2	Astrocytosis	HP:0002446
7249	TSC2	Atelectasis	HP:0100750
7249	TSC2	Heterogeneous	HP:0001425
7249	TSC2	Somatic mutation	HP:0001428
7249	TSC2	Hematuria	HP:0000790
7249	TSC2	Fever	HP:0001945
7249	TSC2	Confetti-like hypopigmented macules	HP:0007449
7249	TSC2	Arrhythmia	HP:0011675
7249	TSC2	Lymphadenopathy	HP:0002716
7249	TSC2	Nevus flammeus	HP:0001052
7249	TSC2	Recurrent respiratory infections	HP:0002205
7249	TSC2	Hypopigmented skin patches	HP:0001053
7249	TSC2	Sporadic	HP:0003745
7249	TSC2	Hemimegalencephaly	HP:0007206
7249	TSC2	Gingival fibromatosis	HP:0000169
7249	TSC2	Restrictive ventilatory defect	HP:0002091
7249	TSC2	Respiratory insufficiency	HP:0002093
7249	TSC2	Dyspnea	HP:0002094
7249	TSC2	Specific learning disability	HP:0001328
7249	TSC2	Emphysema	HP:0002097
7249	TSC2	EEG abnormality	HP:0002353
7249	TSC2	Focal cortical dysplasia type II	HP:0032051
7249	TSC2	Wolff-Parkinson-White syndrome	HP:0001716
7249	TSC2	Hypothyroidism	HP:0000821
7249	TSC2	Infantile spasms	HP:0012469
7249	TSC2	Abnormal urinary color	HP:0012086
7249	TSC2	Hemoptysis	HP:0002105
7249	TSC2	Dilatation	HP:0002617
7249	TSC2	Multiple renal cysts	HP:0005562
7249	TSC2	Precocious puberty	HP:0000826
7249	TSC2	Pneumothorax	HP:0002107
7249	TSC2	Macule	HP:0012733
7249	TSC2	Cafe-au-lait spot	HP:0000957
7249	TSC2	Cognitive impairment	HP:0100543
7249	TSC2	Gastrointestinal hemorrhage	HP:0002239
7249	TSC2	Cough	HP:0012735
7249	TSC2	Pulmonary infiltrates	HP:0002113
7249	TSC2	Behavioral abnormality	HP:0000708
7249	TSC2	Ungual fibroma	HP:0100804
7249	TSC2	Chylothorax	HP:0010310
7249	TSC2	Ependymoma	HP:0002888
7249	TSC2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
7249	TSC2	Subcutaneous nodule	HP:0001482
7249	TSC2	Chylopericardium	HP:0011852
7249	TSC2	Autism	HP:0000717
7249	TSC2	Neoplasm of the pancreas	HP:0002894
7249	TSC2	Focal impaired awareness seizure	HP:0002384
7249	TSC2	Renal cell carcinoma	HP:0005584
7249	TSC2	Cerebral calcification	HP:0002514
7249	TSC2	Renal insufficiency	HP:0000083
7249	TSC2	Increased intracranial pressure	HP:0002516
7249	TSC2	Fatigue	HP:0012378
7249	TSC2	Intellectual disability	HP:0001249
7249	TSC2	Papule	HP:0200034
7249	TSC2	Seizures	HP:0001250
7249	TSC2	Congestive heart failure	HP:0001635
7249	TSC2	Iris coloboma	HP:0000612
7249	TSC2	Gingivitis	HP:0000230
7249	TSC2	Abnormality of skin pigmentation	HP:0001000
7249	TSC2	Attention deficit hyperactivity disorder	HP:0007018
7249	TSC2	Abdominal pain	HP:0002027
7249	TSC2	Cortical dysplasia	HP:0002539
7249	TSC2	Renal cyst	HP:0000107
7249	TSC2	Lymphedema	HP:0001004
7249	TSC2	Hydrocephalus	HP:0000238
7249	TSC2	Global developmental delay	HP:0001263
7249	TSC2	Abnormality of the liver	HP:0001392
7249	TSC2	Skin tags	HP:0010609
7249	TSC2	Renal angiomyolipoma	HP:0006772
7249	TSC2	Subependymal nodules	HP:0009716
7249	TSC2	Hemiparesis	HP:0001269
7249	TSC2	Cortical tubers	HP:0009717
7249	TSC2	Subependymal giant-cell astrocytoma	HP:0009718
7249	TSC2	Angiofibromas	HP:0010615
7249	TSC2	Adenoma sebaceum	HP:0009720
7249	TSC2	Astrocytoma	HP:0009592
7249	TSC2	Shagreen patch	HP:0009721
7249	TSC2	Retinal hamartoma	HP:0009594
7249	TSC2	Dental enamel pits	HP:0009722
7249	TSC2	Subungual fibromas	HP:0009724
7249	TSC2	Adult onset	HP:0003581
7249	TSC2	Pulmonary lymphangiomyomatosis	HP:0012798
7249	TSC2	Achromatic retinal patches	HP:0009727
7252	TSHB	Depressed nasal bridge	HP:0005280
7252	TSHB	Feeding difficulties	HP:0011968
7252	TSHB	Umbilical hernia	HP:0001537
7252	TSHB	Omphalocele	HP:0001539
7252	TSHB	Constipation	HP:0002019
7252	TSHB	Muscular hypotonia	HP:0001252
7252	TSHB	Wide anterior fontanel	HP:0000260
7252	TSHB	Abdominal distention	HP:0003270
7252	TSHB	Intellectual disability, progressive	HP:0006887
7252	TSHB	Autosomal recessive inheritance	HP:0000007
7252	TSHB	Generalized hypotonia	HP:0001290
7252	TSHB	Hoarse cry	HP:0001615
7252	TSHB	Large fontanelles	HP:0000239
7252	TSHB	Intellectual disability, severe	HP:0010864
7252	TSHB	Severe postnatal growth retardation	HP:0008850
7252	TSHB	Abnormality of metabolism/homeostasis	HP:0001939
7252	TSHB	Congenital hypothyroidism	HP:0000851
7252	TSHB	Hypothyroidism	HP:0000821
7252	TSHB	Coarse facial features	HP:0000280
7252	TSHB	Sleep disturbance	HP:0002360
7252	TSHB	Jaundice	HP:0000952
7252	TSHB	Fatigue	HP:0012378
7252	TSHB	Macroglossia	HP:0000158
23636	NUP62	Horizontal pendular nystagmus	HP:0007811
23636	NUP62	Hyperreflexia	HP:0001347
23636	NUP62	Spastic tetraparesis	HP:0001285
23636	NUP62	Autosomal recessive inheritance	HP:0000007
23636	NUP62	Developmental regression	HP:0002376
23636	NUP62	Undetectable light- and dark-adapted electroretinogram	HP:0007688
23636	NUP62	Optic atrophy	HP:0000648
23636	NUP62	Pendular nystagmus	HP:0012043
23636	NUP62	Atrophy/Degeneration involving the caudate nucleus	HP:0007374
23636	NUP62	Astrocytosis	HP:0002446
23636	NUP62	Basal ganglia cysts	HP:0006799
23636	NUP62	Gait ataxia	HP:0002066
23636	NUP62	Basal ganglia gliosis	HP:0006999
23636	NUP62	Small basal ganglia	HP:0012697
23636	NUP62	Upper limb muscle weakness	HP:0003484
23636	NUP62	Cogwheel rigidity	HP:0002396
23636	NUP62	Babinski sign	HP:0003487
23636	NUP62	Dysphagia	HP:0002015
23636	NUP62	Tetraparesis	HP:0002273
23636	NUP62	Intellectual disability	HP:0001249
23636	NUP62	Gastroesophageal reflux	HP:0002020
23636	NUP62	Failure to thrive	HP:0001508
23636	NUP62	Intellectual disability, mild	HP:0001256
23636	NUP62	Spasticity	HP:0001257
23636	NUP62	Dysarthria	HP:0001260
23636	NUP62	Lower limb muscle weakness	HP:0007340
23636	NUP62	Loss of ability to walk	HP:0006957
23636	NUP62	Delayed speech and language development	HP:0000750
23636	NUP62	Developmental stagnation	HP:0007281
23636	NUP62	Choreoathetosis	HP:0001266
23636	NUP62	Infantile muscular hypotonia	HP:0008947
23636	NUP62	Dystonia	HP:0001332
23636	NUP62	Frequent falls	HP:0002359
23636	NUP62	Myoclonus	HP:0001336
7253	TSHR	Feeding difficulties	HP:0011968
7253	TSHR	Umbilical hernia	HP:0001537
7253	TSHR	Hyperthyroidism	HP:0000836
7253	TSHR	Autosomal dominant inheritance	HP:0000006
7253	TSHR	Abdominal distention	HP:0003270
7253	TSHR	Autosomal recessive inheritance	HP:0000007
7253	TSHR	Thyrotoxicosis with diffuse goiter	HP:0011784
7253	TSHR	Proptosis	HP:0000520
7253	TSHR	Agitation	HP:0000713
7253	TSHR	Infantile onset	HP:0003593
7253	TSHR	Hand tremor	HP:0002378
7253	TSHR	Activating thyroid-stimulating hormone receptor defect	HP:0011790
7253	TSHR	Hoarse cry	HP:0001615
7253	TSHR	Abnormality of metabolism/homeostasis	HP:0001939
7253	TSHR	Congenital hypothyroidism	HP:0000851
7253	TSHR	Goiter	HP:0000853
7253	TSHR	Premature birth	HP:0001622
7253	TSHR	Coarse facial features	HP:0000280
7253	TSHR	Fatigue	HP:0012378
7253	TSHR	Hyperemesis gravidarum	HP:0012188
7253	TSHR	Diarrhea	HP:0002014
7253	TSHR	Macroglossia	HP:0000158
7253	TSHR	Weight loss	HP:0001824
7253	TSHR	Intellectual disability	HP:0001249
7253	TSHR	Sporadic	HP:0003745
7253	TSHR	Short stature	HP:0004322
7253	TSHR	Constipation	HP:0002019
7253	TSHR	Muscular hypotonia	HP:0001252
7253	TSHR	Thyroid hypoplasia	HP:0005990
7253	TSHR	Muscle weakness	HP:0001324
7253	TSHR	Increased thyroid-stimulating hormone level	HP:0002925
7253	TSHR	Delayed speech and language development	HP:0000750
7253	TSHR	Small for gestational age	HP:0001518
7253	TSHR	Large fontanelles	HP:0000239
7253	TSHR	Global developmental delay	HP:0001263
7253	TSHR	Hyperactivity	HP:0000752
7253	TSHR	Accelerated skeletal maturation	HP:0005616
7253	TSHR	Intellectual disability, severe	HP:0010864
7253	TSHR	Tachycardia	HP:0001649
7253	TSHR	Hypersomnia	HP:0100786
7253	TSHR	Hypothyroidism	HP:0000821
7253	TSHR	Motor delay	HP:0001270
7253	TSHR	Sleep disturbance	HP:0002360
7253	TSHR	Jaundice	HP:0000952
7253	TSHR	Thyroid hyperplasia	HP:0008249
7253	TSHR	Dry skin	HP:0000958
7253	TSHR	Thyroid agenesis	HP:0008191
23639	LRRC6	Situs inversus totalis	HP:0001696
23639	LRRC6	Rhinitis	HP:0012384
23639	LRRC6	Absent inner and outer dynein arms	HP:0012259
23639	LRRC6	Recurrent sinusitis	HP:0011108
23639	LRRC6	Autosomal recessive inheritance	HP:0000007
23639	LRRC6	Nasal polyposis	HP:0100582
23639	LRRC6	Immotile cilia	HP:0012263
23639	LRRC6	Ciliary dyskinesia	HP:0012265
23639	LRRC6	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
23639	LRRC6	Reduced sperm motility	HP:0012207
23639	LRRC6	Recurrent otitis media	HP:0000403
23639	LRRC6	Chronic bronchitis	HP:0004469
23639	LRRC6	Infertility	HP:0000789
23639	LRRC6	Recurrent respiratory infections	HP:0002205
23639	LRRC6	Bronchiectasis	HP:0002110
253017	TECRL	Vertigo	HP:0002321
253017	TECRL	Sudden death	HP:0001699
253017	TECRL	Ventricular tachycardia	HP:0004756
253017	TECRL	Autosomal recessive inheritance	HP:0000007
253017	TECRL	Prolonged QT interval	HP:0001657
253017	TECRL	Sudden cardiac death	HP:0001645
253017	TECRL	Syncope	HP:0001279
7258	TSPY1	Male infertility	HP:0003251
7258	TSPY1	Non-obstructive azoospermia	HP:0011961
7258	TSPY1	Cryptorchidism	HP:0000028
7258	TSPY1	Oligospermia	HP:0000798
7258	TSPY1	Decreased testicular size	HP:0008734
7259	TSPYL1	Stridor	HP:0010307
7259	TSPYL1	Partial development of the penile shaft	HP:0008708
7259	TSPYL1	Autosomal recessive inheritance	HP:0000007
7259	TSPYL1	Abnormality of the voice	HP:0001608
7259	TSPYL1	Testicular dysgenesis	HP:0008715
7259	TSPYL1	Cardiorespiratory arrest	HP:0006543
7259	TSPYL1	Laryngospasm	HP:0025425
7259	TSPYL1	Abnormality of metabolism/homeostasis	HP:0001939
7259	TSPYL1	Bronchospasm	HP:0025428
7259	TSPYL1	Staccato cry	HP:0025431
7259	TSPYL1	Ophthalmoplegia	HP:0000602
7259	TSPYL1	Cryptorchidism	HP:0000028
7259	TSPYL1	Tongue fasciculations	HP:0001308
7259	TSPYL1	Dysplastic testes	HP:0008733
7259	TSPYL1	Abnormality of the eye	HP:0000478
7259	TSPYL1	Cardiac arrest	HP:0001695
7259	TSPYL1	Hypoplasia of penis	HP:0008736
7259	TSPYL1	Ambiguous genitalia, male	HP:0000033
7259	TSPYL1	Gastroesophageal reflux	HP:0002020
7259	TSPYL1	Growth delay	HP:0001510
7259	TSPYL1	Sleep apnea	HP:0010535
7259	TSPYL1	Feeding difficulties in infancy	HP:0008872
7259	TSPYL1	Abnormal autonomic nervous system physiology	HP:0012332
7259	TSPYL1	Scrotal hypoplasia	HP:0000046
7259	TSPYL1	Hyporeflexia	HP:0001265
7259	TSPYL1	Death in infancy	HP:0001522
7259	TSPYL1	Apnea	HP:0002104
7259	TSPYL1	Myoclonus	HP:0001336
7259	TSPYL1	Hypothermia	HP:0002045
7259	TSPYL1	Bradycardia	HP:0001662
7259	TSPYL1	Ambiguous genitalia	HP:0000062
23646	PLD3	Slow saccadic eye movements	HP:0000514
23646	PLD3	Gait ataxia	HP:0002066
23646	PLD3	Positive Romberg sign	HP:0002403
23646	PLD3	Limb ataxia	HP:0002070
23646	PLD3	Autosomal dominant inheritance	HP:0000006
23646	PLD3	Cerebellar atrophy	HP:0001272
23646	PLD3	Dysarthria	HP:0001260
23646	PLD3	Slow progression	HP:0003677
23646	PLD3	Adult onset	HP:0003581
23646	PLD3	Dysmetria	HP:0001310
23646	PLD3	Sensory axonal neuropathy	HP:0003390
23646	PLD3	Nystagmus	HP:0000639
7273	TTN	Tibialis muscle weakness	HP:0008963
7273	TTN	Areflexia	HP:0001284
7273	TTN	Internally nucleated skeletal muscle fibers	HP:0031237
7273	TTN	Autosomal dominant inheritance	HP:0000006
7273	TTN	Autosomal recessive inheritance	HP:0000007
7273	TTN	Clumsiness	HP:0002312
7273	TTN	Infantile onset	HP:0003593
7273	TTN	Generalized hypotonia	HP:0001290
7273	TTN	Multiple joint contractures	HP:0002828
7273	TTN	Necrotizing myopathy	HP:0008978
7273	TTN	Long face	HP:0000276
7273	TTN	Calf muscle hypertrophy	HP:0008981
7273	TTN	Retrognathia	HP:0000278
7273	TTN	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
7273	TTN	Respiratory insufficiency	HP:0002093
7273	TTN	Mandibular prognathia	HP:0000303
7273	TTN	Steppage gait	HP:0003376
7273	TTN	Difficulty walking	HP:0002355
7273	TTN	Microretrognathia	HP:0000308
7273	TTN	Nocturnal hypoventilation	HP:0002877
7273	TTN	Gowers sign	HP:0003391
7273	TTN	Restrictive deficit on pulmonary function testing	HP:0002111
7273	TTN	Foot dorsiflexor weakness	HP:0009027
7273	TTN	Facial diplegia	HP:0001349
7273	TTN	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0003403
7273	TTN	Dysphonia	HP:0001618
7273	TTN	Abnormality of neutrophils	HP:0001874
7273	TTN	High pitched voice	HP:0001620
7273	TTN	Difficulty running	HP:0009046
7273	TTN	Peroneal muscle atrophy	HP:0009049
7273	TTN	Ophthalmoplegia	HP:0000602
7273	TTN	Scoliosis	HP:0002650
7273	TTN	Flexion contracture	HP:0001371
7273	TTN	Slow progression	HP:0003677
7273	TTN	Limited hip movement	HP:0008800
7273	TTN	Increased muscle lipid content	HP:0009058
7273	TTN	Mitral valve prolapse	HP:0001634
7273	TTN	Congestive heart failure	HP:0001635
7273	TTN	Centrally nucleated skeletal muscle fibers	HP:0003687
7273	TTN	Hypertrophic cardiomyopathy	HP:0001639
7273	TTN	Limited neck flexion	HP:0005991
7273	TTN	Hip dysplasia	HP:0001385
7273	TTN	Scapular winging	HP:0003691
7273	TTN	Mitochondrial depletion	HP:0030059
7273	TTN	Dilated cardiomyopathy	HP:0001644
7273	TTN	Weakness of facial musculature	HP:0030319
7273	TTN	Generalized amyotrophy	HP:0003700
7273	TTN	Proximal muscle weakness	HP:0003701
7273	TTN	Poor head control	HP:0002421
7273	TTN	Abnormal heart valve morphology	HP:0001654
7273	TTN	Myopathy	HP:0003198
7273	TTN	EMG abnormality	HP:0003457
7273	TTN	EMG: myopathic abnormalities	HP:0003458
7273	TTN	Skeletal muscle atrophy	HP:0003202
7273	TTN	Right ventricular hypertrophy	HP:0001667
7273	TTN	Facial palsy	HP:0010628
7273	TTN	Neck flexor weakness	HP:0003722
7273	TTN	Ankle weakness	HP:0031374
7273	TTN	Delayed gross motor development	HP:0002194
7273	TTN	Quadriceps muscle weakness	HP:0003731
7273	TTN	Sensorineural hearing impairment	HP:0000407
7273	TTN	Diaphragmatic weakness	HP:0009113
7273	TTN	Protruding ear	HP:0000411
7273	TTN	Arrhythmia	HP:0011675
7273	TTN	Distal muscle weakness	HP:0002460
7273	TTN	Congenital muscular dystrophy	HP:0003741
7273	TTN	Narrow mouth	HP:0000160
7273	TTN	Sudden death	HP:0001699
7273	TTN	Elevated serum creatine kinase	HP:0003236
7273	TTN	Right ventricular failure	HP:0001708
7273	TTN	Left ventricular hypertrophy	HP:0001712
7273	TTN	Respiratory insufficiency due to muscle weakness	HP:0002747
7273	TTN	Bifid uvula	HP:0000193
7273	TTN	Muscle fiber hypertrophy	HP:0100293
7273	TTN	Long fingers	HP:0100807
7273	TTN	Muscle fiber atrophy	HP:0100295
7273	TTN	Childhood onset	HP:0011463
7273	TTN	Hip contracture	HP:0003273
7273	TTN	Waddling gait	HP:0002515
7273	TTN	Palmoplantar keratoderma	HP:0000982
7273	TTN	High palate	HP:0000218
7273	TTN	Type 1 muscle fiber predominance	HP:0003803
7273	TTN	Orthopnea	HP:0012764
7273	TTN	Rimmed vacuoles	HP:0003805
7273	TTN	Difficulty climbing stairs	HP:0003551
7273	TTN	Falls	HP:0002527
7273	TTN	Pes cavus	HP:0001761
7273	TTN	Talipes equinovarus	HP:0001762
7273	TTN	Short stature	HP:0004322
7273	TTN	Lipoatrophy	HP:0100578
7273	TTN	Muscle fiber splitting	HP:0003555
7273	TTN	Pes planus	HP:0001763
7273	TTN	Failure to thrive	HP:0001508
7273	TTN	Increased variability in muscle fiber diameter	HP:0003557
7273	TTN	Intellectual disability, mild	HP:0001256
7273	TTN	Muscular dystrophy	HP:0003560
7273	TTN	Reduced vital capacity	HP:0002792
7273	TTN	Spinal rigidity	HP:0003306
7273	TTN	Hyperlordosis	HP:0003307
7273	TTN	Dysarthria	HP:0001260
7273	TTN	Delayed speech and language development	HP:0000750
7273	TTN	Mildly elevated creatine kinase	HP:0008180
7273	TTN	Incomplete penetrance	HP:0003829
7273	TTN	Motor delay	HP:0001270
7273	TTN	Congenital onset	HP:0003577
7273	TTN	Progressive muscle weakness	HP:0003323
7273	TTN	Ptosis	HP:0000508
7273	TTN	Generalized muscle weakness	HP:0003324
7273	TTN	Adult onset	HP:0003581
7273	TTN	Distal upper limb muscle weakness	HP:0008959
7273	TTN	Axial muscle weakness	HP:0003327
7274	TTPA	Skeletal muscle atrophy	HP:0003202
7274	TTPA	Areflexia	HP:0001284
7274	TTPA	Increased LDL cholesterol concentration	HP:0003141
7274	TTPA	Autosomal recessive inheritance	HP:0000007
7274	TTPA	Gait disturbance	HP:0001288
7274	TTPA	Developmental regression	HP:0002376
7274	TTPA	Abnormality of visual evoked potentials	HP:0000649
7274	TTPA	Hemiplegia/hemiparesis	HP:0004374
7274	TTPA	Nyctalopia	HP:0000662
7274	TTPA	Abnormality of retinal pigmentation	HP:0007703
7274	TTPA	Abnormal pyramidal sign	HP:0007256
7274	TTPA	Xanthelasma	HP:0001114
7274	TTPA	Scoliosis	HP:0002650
7274	TTPA	Arrhythmia	HP:0011675
7274	TTPA	Dysdiadochokinesis	HP:0002075
7274	TTPA	Dysmetria	HP:0001310
7274	TTPA	Vitamin E deficiency	HP:0100513
7274	TTPA	Pes cavus	HP:0001761
7274	TTPA	Ataxia	HP:0001251
7274	TTPA	Hypertrophic cardiomyopathy	HP:0001639
7274	TTPA	Hypertriglyceridemia	HP:0002155
7274	TTPA	Dysarthria	HP:0001260
7274	TTPA	Muscle weakness	HP:0001324
7274	TTPA	Diabetes mellitus	HP:0000819
7274	TTPA	Hypercholesterolemia	HP:0003124
7274	TTPA	Mental deterioration	HP:0001268
7274	TTPA	Dystonia	HP:0001332
7274	TTPA	Visual impairment	HP:0000505
7274	TTPA	Tremor	HP:0001337
7274	TTPA	Tendon xanthomatosis	HP:0010874
7274	TTPA	Sensory neuropathy	HP:0000763
7274	TTPA	Hypertonia	HP:0001276
7274	TTPA	Nystagmus	HP:0000639
7275	TUB	Abnormal electroretinogram	HP:0000512
7275	TUB	Hyperreflexia	HP:0001347
7275	TUB	Cataract	HP:0000518
7275	TUB	Autosomal recessive inheritance	HP:0000007
7275	TUB	Hypogonadism	HP:0000135
7275	TUB	Optic atrophy	HP:0000648
7275	TUB	Hyperinsulinemia	HP:0000842
7275	TUB	Anteverted nares	HP:0000463
7275	TUB	Conductive hearing impairment	HP:0000405
7275	TUB	Sensorineural hearing impairment	HP:0000407
7275	TUB	Abnormality of retinal pigmentation	HP:0007703
7275	TUB	Ophthalmoplegia	HP:0000602
7275	TUB	Type II diabetes mellitus	HP:0005978
7275	TUB	Atypical scarring of skin	HP:0000987
7275	TUB	Retinal detachment	HP:0000541
7275	TUB	Hypoplasia of penis	HP:0008736
7275	TUB	Myopia	HP:0000545
7275	TUB	Intellectual disability	HP:0001249
7275	TUB	Astigmatism	HP:0000483
7275	TUB	Abnormal testis morphology	HP:0000035
7275	TUB	Photophobia	HP:0000613
7275	TUB	Obesity	HP:0001513
7275	TUB	Retinal pigment epithelial atrophy	HP:0007722
7275	TUB	Blindness	HP:0000618
7275	TUB	Retinal dystrophy	HP:0000556
7275	TUB	Abnormal retinal vascular morphology	HP:0008046
7275	TUB	Reduced visual acuity	HP:0007663
7275	TUB	Wide nasal bridge	HP:0000431
7275	TUB	Peripapillary atrophy	HP:0500087
7275	TUB	Keratoconus	HP:0000563
7275	TUB	Glaucoma	HP:0000501
7275	TUB	Progressive night blindness	HP:0007675
7275	TUB	Nystagmus	HP:0000639
7276	TTR	Autosomal dominant inheritance	HP:0000006
7276	TTR	Reduced circulating vitamin B6 level	HP:0008326
7276	TTR	Headache	HP:0002315
7276	TTR	Atrioventricular block	HP:0001678
7276	TTR	Urinary incontinence	HP:0000020
7276	TTR	Peripheral axonal neuropathy	HP:0003477
7276	TTR	Dementia	HP:0000726
7276	TTR	Constrictive median neuropathy	HP:0012185
7276	TTR	Amyloidosis	HP:0011034
7276	TTR	Arrhythmia	HP:0011675
7276	TTR	Progressive	HP:0003676
7276	TTR	Diarrhea	HP:0002014
7276	TTR	Weight loss	HP:0001824
7276	TTR	Stroke-like episode	HP:0002401
7276	TTR	Amyloid deposition in the vitreous humor	HP:0007841
7276	TTR	Vitreous floaters	HP:0100832
7276	TTR	Seizures	HP:0001250
7276	TTR	Impotence	HP:0000802
7276	TTR	Ataxia	HP:0001251
7276	TTR	Constipation	HP:0002019
7276	TTR	Peripheral neuropathy	HP:0009830
7276	TTR	Cardiomyopathy	HP:0001638
7276	TTR	Cardiomegaly	HP:0001640
7276	TTR	Spasticity	HP:0001257
7276	TTR	Increased CSF protein	HP:0002922
7276	TTR	Muscle weakness	HP:0001324
7276	TTR	Dysarthria	HP:0001260
7276	TTR	Abnormal autonomic nervous system physiology	HP:0012332
7276	TTR	Hearing impairment	HP:0000365
7276	TTR	Nephropathy	HP:0000112
7276	TTR	Hyporeflexia	HP:0001265
7276	TTR	Digital flexor tenosynovitis	HP:0012276
7276	TTR	Hemiparesis	HP:0001269
7276	TTR	Paraplegia	HP:0010550
7276	TTR	Polyneuropathy	HP:0001271
7276	TTR	Visual impairment	HP:0000505
7276	TTR	Tremor	HP:0001337
7276	TTR	Adult onset	HP:0003581
7276	TTR	Orthostatic hypotension due to autonomic dysfunction	HP:0004926
7276	TTR	Nystagmus	HP:0000639
7277	TUBA4A	Frontotemporal dementia	HP:0002145
7277	TUBA4A	Autosomal dominant inheritance	HP:0000006
7277	TUBA4A	Amyotrophic lateral sclerosis	HP:0007354
7280	TUBB2A	Seizures	HP:0001250
7280	TUBB2A	Variable expressivity	HP:0003828
7280	TUBB2A	Autosomal dominant inheritance	HP:0000006
7280	TUBB2A	Ventriculomegaly	HP:0002119
7280	TUBB2A	Simplified gyral pattern	HP:0009879
7280	TUBB2A	Hypsarrhythmia	HP:0002521
7280	TUBB2A	Generalized hypotonia	HP:0001290
7280	TUBB2A	Cortical dysplasia	HP:0002539
7280	TUBB2A	Hypoplasia of the brainstem	HP:0002365
7280	TUBB2A	Global developmental delay	HP:0001263
7280	TUBB2A	Hypoplasia of the corpus callosum	HP:0002079
7283	TUBG1	Seizures	HP:0001250
7283	TUBG1	Variable expressivity	HP:0003828
7283	TUBG1	Autosomal dominant inheritance	HP:0000006
7283	TUBG1	Pachygyria	HP:0001302
7283	TUBG1	Cataract	HP:0000518
7283	TUBG1	Agyria	HP:0031882
7283	TUBG1	Gray matter heterotopia	HP:0002282
7283	TUBG1	Cortical dysplasia	HP:0002539
7283	TUBG1	Microcephaly	HP:0000252
7283	TUBG1	Spastic tetraplegia	HP:0002510
7283	TUBG1	Global developmental delay	HP:0001263
7284	TUFM	Hepatomegaly	HP:0002240
7284	TUFM	Opisthotonus	HP:0002179
7284	TUFM	Hyperammonemia	HP:0001987
7284	TUFM	Neonatal hypotonia	HP:0001319
7284	TUFM	Intrauterine growth retardation	HP:0001511
7284	TUFM	Increased serum lactate	HP:0002151
7284	TUFM	Autosomal recessive inheritance	HP:0000007
7284	TUFM	Developmental regression	HP:0002376
7284	TUFM	Infantile onset	HP:0003593
7284	TUFM	Polymicrogyria	HP:0002126
7284	TUFM	Leukodystrophy	HP:0002415
7284	TUFM	Encephalopathy	HP:0001298
7284	TUFM	Death in infancy	HP:0001522
7284	TUFM	Metabolic acidosis	HP:0001942
7284	TUFM	Lactic acidosis	HP:0003128
7284	TUFM	Microcephaly	HP:0000252
7284	TUFM	Respiratory failure	HP:0002878
7284	TUFM	Nystagmus	HP:0000639
7287	TULP1	Abnormal electroretinogram	HP:0000512
7287	TULP1	Slow pupillary light response	HP:0030211
7287	TULP1	Cataract	HP:0000518
7287	TULP1	Hypogonadism	HP:0000135
7287	TULP1	Autosomal recessive inheritance	HP:0000007
7287	TULP1	Optic atrophy	HP:0000648
7287	TULP1	Conductive hearing impairment	HP:0000405
7287	TULP1	Nyctalopia	HP:0000662
7287	TULP1	Hemiplegia/hemiparesis	HP:0004374
7287	TULP1	Congenital nystagmus	HP:0006934
7287	TULP1	Sensorineural hearing impairment	HP:0000407
7287	TULP1	Abnormality of retinal pigmentation	HP:0007703
7287	TULP1	Hypermetropia	HP:0000540
7287	TULP1	Optic disc pallor	HP:0000543
7287	TULP1	Hypoplasia of penis	HP:0008736
7287	TULP1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
7287	TULP1	Myopia	HP:0000545
7287	TULP1	Retinal degeneration	HP:0000546
7287	TULP1	Abnormal testis morphology	HP:0000035
7287	TULP1	Encephalocele	HP:0002084
7287	TULP1	Undetectable electroretinogram	HP:0000550
7287	TULP1	Color vision defect	HP:0000551
7287	TULP1	Wide nasal bridge	HP:0000431
7287	TULP1	Keratoconus	HP:0000563
7287	TULP1	Bone spicule pigmentation of the retina	HP:0007737
7287	TULP1	Hyperreflexia	HP:0001347
7287	TULP1	Pigmentary retinopathy	HP:0000580
7287	TULP1	Hyperinsulinemia	HP:0000842
7287	TULP1	Anteverted nares	HP:0000463
7287	TULP1	Ophthalmoplegia	HP:0000602
7287	TULP1	Type II diabetes mellitus	HP:0005978
7287	TULP1	Atypical scarring of skin	HP:0000987
7287	TULP1	Impaired smooth pursuit	HP:0007772
7287	TULP1	Abnormality of neuronal migration	HP:0002269
7287	TULP1	Intellectual disability	HP:0001249
7287	TULP1	Seizures	HP:0001250
7287	TULP1	Muscular hypotonia	HP:0001252
7287	TULP1	Photophobia	HP:0000613
7287	TULP1	Retinopathy	HP:0000488
7287	TULP1	Obesity	HP:0001513
7287	TULP1	Blindness	HP:0000618
7287	TULP1	Posterior subcapsular cataract	HP:0007787
7287	TULP1	Retinal arteriolar constriction	HP:0008043
7287	TULP1	Constriction of peripheral visual field	HP:0001133
7287	TULP1	Hearing impairment	HP:0000365
7287	TULP1	Abnormal retinal vascular morphology	HP:0008046
7287	TULP1	Reduced visual acuity	HP:0007663
7287	TULP1	Global developmental delay	HP:0001263
7287	TULP1	Glaucoma	HP:0000501
7287	TULP1	Severely reduced visual acuity	HP:0001141
7287	TULP1	Progressive night blindness	HP:0007675
7287	TULP1	Abnormality of the optic disc	HP:0012795
7287	TULP1	Rod-cone dystrophy	HP:0000510
7287	TULP1	Nystagmus	HP:0000639
7290	HIRA	Umbilical hernia	HP:0001537
7290	HIRA	Tetany	HP:0001281
7290	HIRA	Intestinal malrotation	HP:0002566
7290	HIRA	Turricephaly	HP:0000262
7290	HIRA	Cataract	HP:0000518
7290	HIRA	Hypoplasia of the thymus	HP:0000778
7290	HIRA	Abnormal aortic arch morphology	HP:0012303
7290	HIRA	Malar flattening	HP:0000272
7290	HIRA	Long face	HP:0000276
7290	HIRA	Inguinal hernia	HP:0000023
7290	HIRA	Polyhydramnios	HP:0001561
7290	HIRA	Seborrheic dermatitis	HP:0001051
7290	HIRA	Cryptorchidism	HP:0000028
7290	HIRA	Hypopigmented skin patches	HP:0001053
7290	HIRA	Epicanthus	HP:0000286
7290	HIRA	Acne	HP:0001061
7290	HIRA	Foot polydactyly	HP:0001829
7290	HIRA	Hypospadias	HP:0000047
7290	HIRA	Bowel incontinence	HP:0002607
7290	HIRA	Specific learning disability	HP:0001328
7290	HIRA	Asthma	HP:0002099
7290	HIRA	Dysphasia	HP:0002357
7290	HIRA	Hypothyroidism	HP:0000821
7290	HIRA	Abnormal lung lobation	HP:0002101
7290	HIRA	Microphthalmia	HP:0000568
7290	HIRA	Cholelithiasis	HP:0001081
7290	HIRA	Varicose veins	HP:0002619
7290	HIRA	Impaired T cell function	HP:0005435
7290	HIRA	Multiple suture craniosynostosis	HP:0011324
7290	HIRA	Joint hyperflexibility	HP:0005692
7290	HIRA	Hypertelorism	HP:0000316
7290	HIRA	Hypoparathyroidism	HP:0000829
7290	HIRA	Laryngomalacia	HP:0001601
7290	HIRA	Short philtrum	HP:0000322
7290	HIRA	Hyperthyroidism	HP:0000836
7290	HIRA	Upslanted palpebral fissure	HP:0000582
7290	HIRA	Nasal speech	HP:0001611
7290	HIRA	Vesicoureteral reflux	HP:0000076
7290	HIRA	Thrombocytopenia	HP:0001873
7290	HIRA	Hypocalcemia	HP:0002901
7290	HIRA	Long philtrum	HP:0000343
7290	HIRA	Abnormality of the pharynx	HP:0000600
7290	HIRA	Renal hypoplasia	HP:0000089
7290	HIRA	Arthritis	HP:0001369
7290	HIRA	Scoliosis	HP:0002650
7290	HIRA	Micrognathia	HP:0000347
7290	HIRA	Arrhinencephaly	HP:0002139
7290	HIRA	Ventricular septal defect	HP:0001629
7290	HIRA	Atrial septal defect	HP:0001631
7290	HIRA	Tetralogy of Fallot	HP:0001636
7290	HIRA	Occipital myelomeningocele	HP:0007271
7290	HIRA	Abnormal pulmonary valve morphology	HP:0001641
7290	HIRA	Attention deficit hyperactivity disorder	HP:0007018
7290	HIRA	Patent ductus arteriosus	HP:0001643
7290	HIRA	Chronic obstructive pulmonary disease	HP:0006510
7290	HIRA	Abnormal aortic valve morphology	HP:0001646
7290	HIRA	Retinal arteriolar tortuosity	HP:0001136
7290	HIRA	Polycystic kidney dysplasia	HP:0000113
7290	HIRA	Low-set ears	HP:0000369
7290	HIRA	Posterior embryotoxon	HP:0000627
7290	HIRA	Truncus arteriosus	HP:0001660
7290	HIRA	Hypertensive crisis	HP:0100735
7290	HIRA	Small earlobe	HP:0000385
7290	HIRA	Abnormality of the uterus	HP:0000130
7290	HIRA	Platybasia	HP:0002691
7290	HIRA	Chronic otitis media	HP:0000389
7290	HIRA	Bipolar affective disorder	HP:0007302
7290	HIRA	Optic atrophy	HP:0000648
7290	HIRA	Hand polydactyly	HP:0001161
7290	HIRA	Overfolded helix	HP:0000396
7290	HIRA	Arachnodactyly	HP:0001166
7290	HIRA	Tricuspid atresia	HP:0011662
7290	HIRA	Atelectasis	HP:0100750
7290	HIRA	Schizophrenia	HP:0100753
7290	HIRA	Autoimmunity	HP:0002960
7290	HIRA	Conductive hearing impairment	HP:0000405
7290	HIRA	Abnormality of the tonsils	HP:0100765
7290	HIRA	Carious teeth	HP:0000670
7290	HIRA	Bulbous nose	HP:0000414
7290	HIRA	Narrow mouth	HP:0000160
7290	HIRA	Immunodeficiency	HP:0002721
7290	HIRA	Feeding difficulties in infancy	HP:0008872
7290	HIRA	Prominent nasal bridge	HP:0000426
7290	HIRA	Abnormality of dental enamel	HP:0000682
7290	HIRA	Wide nasal bridge	HP:0000431
7290	HIRA	Cleft palate	HP:0000175
7290	HIRA	Patellar dislocation	HP:0002999
7290	HIRA	Multiple renal cysts	HP:0005562
7290	HIRA	Gastrointestinal hemorrhage	HP:0002239
7290	HIRA	Choanal atresia	HP:0000453
7290	HIRA	Aganglionic megacolon	HP:0002251
7290	HIRA	Depressivity	HP:0000716
7290	HIRA	Autism	HP:0000717
7290	HIRA	Splenomegaly	HP:0001744
7290	HIRA	Purpura	HP:0000979
7290	HIRA	Short neck	HP:0000470
7290	HIRA	Short stature	HP:0004322
7290	HIRA	Seizures	HP:0001250
7290	HIRA	Talipes equinovarus	HP:0001762
7290	HIRA	Constipation	HP:0002019
7290	HIRA	Anxiety	HP:0000739
7290	HIRA	Failure to thrive	HP:0001508
7290	HIRA	Gastroesophageal reflux	HP:0002020
7290	HIRA	Muscular hypotonia	HP:0001252
7290	HIRA	Strabismus	HP:0000486
7290	HIRA	Anal atresia	HP:0002023
7290	HIRA	Intrauterine growth retardation	HP:0001511
7290	HIRA	Corneal neovascularization	HP:0011496
7290	HIRA	Intellectual disability, mild	HP:0001256
7290	HIRA	Obesity	HP:0001513
7290	HIRA	Hydrocephalus	HP:0000238
7290	HIRA	Downslanted palpebral fissures	HP:0000494
7290	HIRA	Global developmental delay	HP:0001263
7290	HIRA	Glaucoma	HP:0000501
7290	HIRA	Telecanthus	HP:0000506
7290	HIRA	Ptosis	HP:0000508
7290	HIRA	Microcephaly	HP:0000252
7290	HIRA	Abnormality of the thorax	HP:0000765
7290	HIRA	Myalgia	HP:0003326
7291	TWIST1	Macrocephaly	HP:0000256
7291	TWIST1	Wide anterior fontanel	HP:0000260
7291	TWIST1	Autosomal dominant inheritance	HP:0000006
7291	TWIST1	Turricephaly	HP:0000262
7291	TWIST1	Oxycephaly	HP:0000263
7291	TWIST1	Proptosis	HP:0000520
7291	TWIST1	Abnormality of the antihelix	HP:0009738
7291	TWIST1	Dolichocephaly	HP:0000268
7291	TWIST1	Prominent occiput	HP:0000269
7291	TWIST1	Delayed cranial suture closure	HP:0000270
7291	TWIST1	Malar flattening	HP:0000272
7291	TWIST1	Midface retrusion	HP:0011800
7291	TWIST1	Cryptorchidism	HP:0000028
7291	TWIST1	Migraine	HP:0002076
7291	TWIST1	Hallux valgus	HP:0001822
7291	TWIST1	Epicanthus	HP:0000286
7291	TWIST1	Low anterior hairline	HP:0000294
7291	TWIST1	Intellectual disability, moderate	HP:0002342
7291	TWIST1	Sleep apnea	HP:0010535
7291	TWIST1	Broad thumb	HP:0011304
7291	TWIST1	Cerebellar hypoplasia	HP:0001321
7291	TWIST1	Buphthalmos	HP:0000557
7291	TWIST1	Open bite	HP:0010807
7291	TWIST1	Cleft of chin	HP:0011323
7291	TWIST1	Hypertelorism	HP:0000316
7291	TWIST1	Short philtrum	HP:0000322
7291	TWIST1	Facial asymmetry	HP:0000324
7291	TWIST1	Broad hallux	HP:0010055
7291	TWIST1	Hypoplasia of the maxilla	HP:0000327
7291	TWIST1	Flat forehead	HP:0004425
7291	TWIST1	Shallow orbits	HP:0000586
7291	TWIST1	Plagiocephaly	HP:0001357
7291	TWIST1	Scaphocephaly	HP:0030799
7291	TWIST1	Flat face	HP:0012368
7291	TWIST1	Broad forehead	HP:0000337
7291	TWIST1	Duplication of phalanx of hallux	HP:0010066
7291	TWIST1	Craniosynostosis	HP:0001363
7291	TWIST1	Abnormality of pelvic girdle bone morphology	HP:0002644
7291	TWIST1	Coronal craniosynostosis	HP:0004440
7291	TWIST1	Hypotelorism	HP:0000601
7291	TWIST1	Scoliosis	HP:0002650
7291	TWIST1	Micrognathia	HP:0000347
7291	TWIST1	Abnormal heart morphology	HP:0001627
7291	TWIST1	Lambdoidal craniosynostosis	HP:0004443
7291	TWIST1	High forehead	HP:0000348
7291	TWIST1	Widow's peak	HP:0000349
7291	TWIST1	Visual field defect	HP:0001123
7291	TWIST1	Abnormal nasolacrimal system morphology	HP:0000614
7291	TWIST1	Microtia	HP:0008551
7291	TWIST1	Hearing impairment	HP:0000365
7291	TWIST1	Prominent metopic ridge	HP:0005487
7291	TWIST1	Low-set ears	HP:0000369
7291	TWIST1	Clinodactyly of the 5th finger	HP:0004209
7291	TWIST1	Long nose	HP:0003189
7291	TWIST1	Skull asymmetry	HP:0002678
7291	TWIST1	Absent first metatarsal	HP:0010104
7291	TWIST1	Cupped ear	HP:0000378
7291	TWIST1	Narrow internal auditory canal	HP:0011386
7291	TWIST1	Upper eyelid coloboma	HP:0000636
7291	TWIST1	External ear malformation	HP:0008572
7291	TWIST1	Short clavicles	HP:0000894
7291	TWIST1	Blepharospasm	HP:0000643
7291	TWIST1	Brachydactyly	HP:0001156
7291	TWIST1	Amblyopia	HP:0000646
7291	TWIST1	Optic atrophy	HP:0000648
7291	TWIST1	Parietal foramina	HP:0002697
7291	TWIST1	Overfolded helix	HP:0000396
7291	TWIST1	Conductive hearing impairment	HP:0000405
7291	TWIST1	Sensorineural hearing impairment	HP:0000407
7291	TWIST1	Radioulnar synostosis	HP:0002974
7291	TWIST1	Narrow mouth	HP:0000160
7291	TWIST1	Depressed nasal bridge	HP:0005280
7291	TWIST1	Underdeveloped supraorbital ridges	HP:0009891
7291	TWIST1	Prominent nasal bridge	HP:0000426
7291	TWIST1	Prominent crus of helix	HP:0009899
7291	TWIST1	Proximal radio-ulnar synostosis	HP:0005037
7291	TWIST1	Underdeveloped nasal alae	HP:0000430
7291	TWIST1	Bilateral single transverse palmar creases	HP:0007598
7291	TWIST1	Wide nasal bridge	HP:0000431
7291	TWIST1	Cleft palate	HP:0000175
7291	TWIST1	Triphalangeal thumb	HP:0001199
7291	TWIST1	Cutaneous syndactyly	HP:0012725
7291	TWIST1	Generalized hirsutism	HP:0002230
7291	TWIST1	Breast carcinoma	HP:0003002
7291	TWIST1	Convex nasal ridge	HP:0000444
7291	TWIST1	Narrow palate	HP:0000189
7291	TWIST1	Choanal atresia	HP:0000453
7291	TWIST1	Long fingers	HP:0100807
7291	TWIST1	Narrow nose	HP:0000460
7291	TWIST1	Short columella	HP:0002000
7291	TWIST1	Increased intracranial pressure	HP:0002516
7291	TWIST1	Finger syndactyly	HP:0006101
7291	TWIST1	Frontal bossing	HP:0002007
7291	TWIST1	Abnormality of cardiovascular system morphology	HP:0030680
7291	TWIST1	High palate	HP:0000218
7291	TWIST1	Partial duplication of the distal phalanx of the 2nd finger	HP:0009951
7291	TWIST1	Intellectual disability	HP:0001249
7291	TWIST1	Seizures	HP:0001250
7291	TWIST1	Short stature	HP:0004322
7291	TWIST1	Gastroesophageal reflux	HP:0002020
7291	TWIST1	Metacarpal synostosis	HP:0009701
7291	TWIST1	Strabismus	HP:0000486
7291	TWIST1	Anal atresia	HP:0002023
7291	TWIST1	Toe syndactyly	HP:0001770
7291	TWIST1	Hyperlordosis	HP:0003307
7291	TWIST1	Global developmental delay	HP:0001263
7291	TWIST1	Abnormal form of the vertebral bodies	HP:0003312
7291	TWIST1	Partial duplication of the distal phalanx of the 3rd finger	HP:0009968
7291	TWIST1	Variable expressivity	HP:0003828
7291	TWIST1	Brachycephaly	HP:0000248
7291	TWIST1	Ptosis	HP:0000508
23676	SMPX	Sensorineural hearing impairment	HP:0000407
23676	SMPX	Childhood onset	HP:0011463
23676	SMPX	High-frequency hearing impairment	HP:0005101
23676	SMPX	X-linked dominant inheritance	HP:0001423
7292	TNFSF4	Hallucinations	HP:0000738
7292	TNFSF4	Transient global amnesia	HP:0010534
7292	TNFSF4	Slurred speech	HP:0001350
7292	TNFSF4	Abnormality of vision	HP:0000504
7292	TNFSF4	Obesity	HP:0001513
7292	TNFSF4	Cataplexy	HP:0002524
7292	TNFSF4	Excessive daytime sleepiness	HP:0002189
7292	TNFSF4	Abnormal rapid eye movement sleep	HP:0002494
7292	TNFSF4	Syncope	HP:0001279
7293	TNFRSF4	Splenomegaly	HP:0001744
7293	TNFRSF4	Immunodeficiency	HP:0002721
7293	TNFRSF4	Pancytopenia	HP:0001876
7293	TNFRSF4	Juvenile onset	HP:0003621
7293	TNFRSF4	Autosomal recessive inheritance	HP:0000007
7293	TNFRSF4	Kaposi's sarcoma	HP:0100726
7293	TNFRSF4	Coombs-positive hemolytic anemia	HP:0004844
7297	TYK2	Immunodeficiency	HP:0002721
7297	TYK2	Autosomal recessive inheritance	HP:0000007
7297	TYK2	Recurrent fungal infections	HP:0002841
7297	TYK2	Recurrent mycobacterial infections	HP:0011274
7297	TYK2	Increased circulating total IgE level	HP:0003212
7297	TYK2	Recurrent viral infections	HP:0004429
7297	TYK2	Recurrent respiratory infections	HP:0002205
81027	TUBB1	Autosomal dominant inheritance	HP:0000006
81027	TUBB1	Macrothrombocytopenia	HP:0040185
7299	TYR	Exotropia	HP:0000577
7299	TYR	Hyperkeratosis	HP:0000962
7299	TYR	Optic nerve dysplasia	HP:0001093
7299	TYR	Hypoplasia of the fovea	HP:0007750
7299	TYR	Autosomal dominant inheritance	HP:0000006
7299	TYR	Autosomal recessive inheritance	HP:0000007
7299	TYR	Freckling	HP:0001480
7299	TYR	Abnormality of visual evoked potentials	HP:0000649
7299	TYR	X-linked inheritance	HP:0001417
7299	TYR	Abnormality of the optic nerve	HP:0000587
7299	TYR	Ocular albinism	HP:0001107
7299	TYR	Squamous cell carcinoma of the skin	HP:0006739
7299	TYR	Hypopigmentation of the fundus	HP:0007894
7299	TYR	Sensorineural hearing impairment	HP:0000407
7299	TYR	Abnormality of retinal pigmentation	HP:0007703
7299	TYR	Giant melanosomes in melanocytes	HP:0005592
7299	TYR	Vestibular hypofunction	HP:0001756
7299	TYR	Hypermetropia	HP:0000540
7299	TYR	Hypopigmentation of hair	HP:0005599
7299	TYR	Absent skin pigmentation	HP:0200098
7299	TYR	Myopia	HP:0000545
7299	TYR	Melanocytic nevus	HP:0000995
7299	TYR	Astigmatism	HP:0000483
7299	TYR	White hair	HP:0011364
7299	TYR	Photophobia	HP:0000613
7299	TYR	Strabismus	HP:0000486
7299	TYR	Multiple lentigines	HP:0001003
7299	TYR	Melanoma	HP:0002861
7299	TYR	Basal cell carcinoma	HP:0002671
7299	TYR	Reduced visual acuity	HP:0007663
7299	TYR	Thickened skin	HP:0001072
7299	TYR	Hypopigmentation of the skin	HP:0001010
7299	TYR	Iris hypopigmentation	HP:0007730
7299	TYR	Visual impairment	HP:0000505
7299	TYR	Congenital onset	HP:0003577
7299	TYR	Blue irides	HP:0000635
7299	TYR	Albinism	HP:0001022
7299	TYR	Nystagmus	HP:0000639
81031	SLC2A10	Macrocephaly	HP:0000256
81031	SLC2A10	Pectus carinatum	HP:0000768
81031	SLC2A10	Umbilical hernia	HP:0001537
81031	SLC2A10	Soft, doughy skin	HP:0001027
81031	SLC2A10	Autosomal recessive inheritance	HP:0000007
81031	SLC2A10	Congenital diaphragmatic hernia	HP:0000776
81031	SLC2A10	Generalized hypotonia	HP:0001290
81031	SLC2A10	Hip dislocation	HP:0002827
81031	SLC2A10	Arachnodactyly	HP:0001166
81031	SLC2A10	Cardiorespiratory arrest	HP:0006543
81031	SLC2A10	Malar flattening	HP:0000272
81031	SLC2A10	Macrotia	HP:0000400
81031	SLC2A10	Myocarditis	HP:0012819
81031	SLC2A10	Long face	HP:0000276
81031	SLC2A10	Inguinal hernia	HP:0000023
81031	SLC2A10	Esophagitis	HP:0100633
81031	SLC2A10	Cardiac arrest	HP:0001695
81031	SLC2A10	Aortic tortuosity	HP:0006687
81031	SLC2A10	Myopia	HP:0000545
81031	SLC2A10	Long palm	HP:0011302
81031	SLC2A10	Redundant skin	HP:0001582
81031	SLC2A10	Rocker bottom foot	HP:0001838
81031	SLC2A10	Specific learning disability	HP:0001328
81031	SLC2A10	Respiratory distress	HP:0002098
81031	SLC2A10	Ventricular hypertrophy	HP:0001714
81031	SLC2A10	Keratoconus	HP:0000563
81031	SLC2A10	Median cleft lip and palate	HP:0008501
81031	SLC2A10	Hypertension	HP:0000822
81031	SLC2A10	Aortic root aneurysm	HP:0002616
81031	SLC2A10	Abnormal thrombosis	HP:0001977
81031	SLC2A10	Hypertelorism	HP:0000316
81031	SLC2A10	Femoral hernia	HP:0100541
81031	SLC2A10	Joint hyperflexibility	HP:0005692
81031	SLC2A10	Convex nasal ridge	HP:0000444
81031	SLC2A10	Respiratory failure	HP:0002878
81031	SLC2A10	Pulmonary artery stenosis	HP:0004415
81031	SLC2A10	Arterial stenosis	HP:0100545
81031	SLC2A10	Thin skin	HP:0000963
81031	SLC2A10	Blepharophimosis	HP:0000581
81031	SLC2A10	Prematurely aged appearance	HP:0007495
81031	SLC2A10	Short palpebral fissure	HP:0012745
81031	SLC2A10	Cutis laxa	HP:0000973
81031	SLC2A10	Hyperextensible skin	HP:0000974
81031	SLC2A10	Bruising susceptibility	HP:0000978
81031	SLC2A10	Craniosynostosis	HP:0001363
81031	SLC2A10	Aortic dissection	HP:0002647
81031	SLC2A10	Long philtrum	HP:0000343
81031	SLC2A10	Scoliosis	HP:0002650
81031	SLC2A10	Fatigue	HP:0012378
81031	SLC2A10	High palate	HP:0000218
81031	SLC2A10	Generalized arterial tortuosity	HP:0004955
81031	SLC2A10	Flexion contracture	HP:0001371
81031	SLC2A10	Micrognathia	HP:0000347
81031	SLC2A10	Ischemic stroke	HP:0002140
81031	SLC2A10	Keratoglobus	HP:0001119
81031	SLC2A10	Abnormal carotid artery morphology	HP:0005344
81031	SLC2A10	Intellectual disability	HP:0001249
81031	SLC2A10	Congestive heart failure	HP:0001635
81031	SLC2A10	Muscular hypotonia	HP:0001252
81031	SLC2A10	Gastroesophageal reflux	HP:0002020
81031	SLC2A10	Pyloric stenosis	HP:0002021
81031	SLC2A10	Strabismus	HP:0000486
81031	SLC2A10	Hypertrophic cardiomyopathy	HP:0001639
81031	SLC2A10	Telangiectasia of the skin	HP:0100585
81031	SLC2A10	Hip dysplasia	HP:0001385
81031	SLC2A10	Dilated cardiomyopathy	HP:0001644
81031	SLC2A10	Joint laxity	HP:0001388
81031	SLC2A10	Downslanted palpebral fissures	HP:0000494
81031	SLC2A10	Global developmental delay	HP:0001263
81031	SLC2A10	Avascular necrosis of the capital femoral epiphysis	HP:0005743
81031	SLC2A10	Coxa valga	HP:0002673
81031	SLC2A10	Clinodactyly of the 5th finger	HP:0004209
81031	SLC2A10	Aortic valve stenosis	HP:0001650
81031	SLC2A10	Hiatus hernia	HP:0002036
81031	SLC2A10	Congenital onset	HP:0003577
81031	SLC2A10	Myocardial infarction	HP:0001658
81031	SLC2A10	Aortic regurgitation	HP:0001659
81031	SLC2A10	Coxa vara	HP:0002812
81031	SLC2A10	Short nose	HP:0003196
81031	SLC2A10	Telangiectases of the cheeks	HP:0007421
81031	SLC2A10	Pectus excavatum	HP:0000767
7305	TYROBP	Abnormality of the hand	HP:0001155
7305	TYROBP	Autosomal recessive inheritance	HP:0000007
7305	TYROBP	Gait disturbance	HP:0001288
7305	TYROBP	Apraxia	HP:0002186
7305	TYROBP	Cerebral atrophy	HP:0002059
7305	TYROBP	Arthralgia	HP:0002829
7305	TYROBP	Oculomotor apraxia	HP:0000657
7305	TYROBP	Urinary incontinence	HP:0000020
7305	TYROBP	Chorea	HP:0002072
7305	TYROBP	Agnosia	HP:0010524
7305	TYROBP	Bone cyst	HP:0012062
7305	TYROBP	Hypoplasia of the corpus callosum	HP:0002079
7305	TYROBP	Babinski sign	HP:0003487
7305	TYROBP	Caudate atrophy	HP:0002340
7305	TYROBP	Abnormal adipose tissue morphology	HP:0009124
7305	TYROBP	Abnormality of epiphysis morphology	HP:0005930
7305	TYROBP	Primitive reflex	HP:0002476
7305	TYROBP	Functional abnormality of the gastrointestinal tract	HP:0012719
7305	TYROBP	Leukoencephalopathy	HP:0002352
7305	TYROBP	EEG abnormality	HP:0002353
7305	TYROBP	Memory impairment	HP:0002354
7305	TYROBP	Myoclonus	HP:0001336
7305	TYROBP	Acute leukemia	HP:0002488
7305	TYROBP	Pathologic fracture	HP:0002756
7305	TYROBP	Ventriculomegaly	HP:0002119
7305	TYROBP	Cerebral cortical atrophy	HP:0002120
7305	TYROBP	Developmental regression	HP:0002376
7305	TYROBP	Aggressive behavior	HP:0000718
7305	TYROBP	Abnormal upper motor neuron morphology	HP:0002127
7305	TYROBP	Inappropriate behavior	HP:0000719
7305	TYROBP	Cerebral calcification	HP:0002514
7305	TYROBP	Frontal lobe dementia	HP:0000727
7305	TYROBP	Basal ganglia calcification	HP:0002135
7305	TYROBP	Peripheral demyelination	HP:0011096
7305	TYROBP	Skeletal dysplasia	HP:0002652
7305	TYROBP	Bone pain	HP:0002653
7305	TYROBP	Disinhibition	HP:0000734
7305	TYROBP	Abnormality of the foot	HP:0001760
7305	TYROBP	Limitation of joint mobility	HP:0001376
7305	TYROBP	Irritability	HP:0000737
7305	TYROBP	Seizures	HP:0001250
7305	TYROBP	Euphoria	HP:0031844
7305	TYROBP	Spasticity	HP:0001257
7305	TYROBP	Hydrocephalus	HP:0000238
7305	TYROBP	Personality changes	HP:0000751
7305	TYROBP	Lack of insight	HP:0000757
7305	TYROBP	Neurological speech impairment	HP:0002167
7305	TYROBP	Axonal loss	HP:0003447
7305	TYROBP	Gliosis	HP:0002171
7305	TYROBP	Reduced bone mineral density	HP:0004349
7306	TYRP1	Cutaneous photosensitivity	HP:0000992
7306	TYRP1	Iris hypopigmentation	HP:0007730
7306	TYRP1	Partial albinism	HP:0007443
7306	TYRP1	Strabismus	HP:0000486
7306	TYRP1	Autosomal recessive inheritance	HP:0000007
7306	TYRP1	Freckling	HP:0001480
7306	TYRP1	Red hair	HP:0002297
7306	TYRP1	Albinism	HP:0001022
7306	TYRP1	Nystagmus	HP:0000639
220296	HEPACAM	Macrocephaly	HP:0000256
220296	HEPACAM	Intellectual disability	HP:0001249
220296	HEPACAM	Seizures	HP:0001250
220296	HEPACAM	Ataxia	HP:0001251
220296	HEPACAM	Diffuse white matter abnormalities	HP:0007204
220296	HEPACAM	Autosomal dominant inheritance	HP:0000006
220296	HEPACAM	Autosomal recessive inheritance	HP:0000007
220296	HEPACAM	Ventriculomegaly	HP:0002119
220296	HEPACAM	Progressive neurologic deterioration	HP:0002344
220296	HEPACAM	Intellectual disability, mild	HP:0001256
220296	HEPACAM	Clumsiness	HP:0002312
220296	HEPACAM	Spasticity	HP:0001257
220296	HEPACAM	Infantile onset	HP:0003593
220296	HEPACAM	Generalized hypotonia	HP:0001290
220296	HEPACAM	Cerebral atrophy	HP:0002059
220296	HEPACAM	Megalencephaly	HP:0001355
220296	HEPACAM	Dysarthria	HP:0001260
220296	HEPACAM	Diffuse swelling of cerebral white matter	HP:0007341
220296	HEPACAM	Motor delay	HP:0001270
220296	HEPACAM	Cerebellar atrophy	HP:0001272
220296	HEPACAM	Slow progression	HP:0003677
220296	HEPACAM	Diffuse spongiform leukoencephalopathy	HP:0006943
81034	SLC25A32	Ragged-red muscle fibers	HP:0003200
81034	SLC25A32	Autosomal recessive inheritance	HP:0000007
81034	SLC25A32	Exercise intolerance	HP:0003546
7314	UBB	Bifid uvula	HP:0000193
7314	UBB	Cleft lip	HP:0410030
7314	UBB	Nasal, dysarthic speech	HP:0008376
7314	UBB	Submucous cleft soft palate	HP:0011819
7317	UBA1	Open mouth	HP:0000194
7317	UBA1	Facial palsy	HP:0010628
7317	UBA1	Areflexia	HP:0001284
7317	UBA1	Narrow chest	HP:0000774
7317	UBA1	Gait disturbance	HP:0001288
7317	UBA1	Myopathic facies	HP:0002058
7317	UBA1	X-linked recessive inheritance	HP:0001419
7317	UBA1	Camptodactyly of finger	HP:0100490
7317	UBA1	Multiple joint contractures	HP:0002828
7317	UBA1	Dolichocephaly	HP:0000268
7317	UBA1	Abnormal fingernail morphology	HP:0001231
7317	UBA1	Macrotia	HP:0000400
7317	UBA1	Wide intermamillary distance	HP:0006610
7317	UBA1	Abnormality of metabolism/homeostasis	HP:0001939
7317	UBA1	Decreased fetal movement	HP:0001558
7317	UBA1	Short neck	HP:0000470
7317	UBA1	Inguinal hernia	HP:0000023
7317	UBA1	Proximal placement of thumb	HP:0009623
7317	UBA1	Long philtrum	HP:0000343
7317	UBA1	Scoliosis	HP:0002650
7317	UBA1	Thickened nuchal skin fold	HP:0000474
7317	UBA1	Micrognathia	HP:0000347
7317	UBA1	Cryptorchidism	HP:0000028
7317	UBA1	Tongue fasciculations	HP:0001308
7317	UBA1	Skin dimples	HP:0010781
7317	UBA1	Adducted thumb	HP:0001181
7317	UBA1	Degeneration of anterior horn cells	HP:0002398
7317	UBA1	Hypoplasia of penis	HP:0008736
7317	UBA1	Seizures	HP:0001250
7317	UBA1	Muscular hypotonia	HP:0001252
7317	UBA1	Spinal muscular atrophy	HP:0007269
7317	UBA1	Strabismus	HP:0000486
7317	UBA1	Joint stiffness	HP:0001387
7317	UBA1	Severe muscular hypotonia	HP:0006829
7317	UBA1	Respiratory insufficiency	HP:0002093
7317	UBA1	Bilateral single transverse palmar creases	HP:0007598
7317	UBA1	Hypospadias	HP:0000047
7317	UBA1	Wide nasal bridge	HP:0000431
7317	UBA1	Arthrogryposis multiplex congenita	HP:0002804
7317	UBA1	Micropenis	HP:0000054
7317	UBA1	Kyphosis	HP:0002808
7317	UBA1	Respiratory insufficiency due to muscle weakness	HP:0002747
7317	UBA1	Failure to thrive in infancy	HP:0001531
7317	UBA1	Ptosis	HP:0000508
7317	UBA1	Short nose	HP:0003196
7317	UBA1	Myopathy	HP:0003198
7317	UBA1	Cognitive impairment	HP:0100543
7319	UBE2A	Macrocephaly	HP:0000256
7319	UBE2A	Almond-shaped palpebral fissure	HP:0007874
7319	UBE2A	Upslanted palpebral fissure	HP:0000582
7319	UBE2A	Broad hallux	HP:0010055
7319	UBE2A	X-linked recessive inheritance	HP:0001419
7319	UBE2A	Aggressive behavior	HP:0000718
7319	UBE2A	Prominent supraorbital ridges	HP:0000336
7319	UBE2A	Malar flattening	HP:0000272
7319	UBE2A	Wide intermamillary distance	HP:0006610
7319	UBE2A	Nail dystrophy	HP:0008404
7319	UBE2A	Spotty hypopigmentation	HP:0005590
7319	UBE2A	Short neck	HP:0000470
7319	UBE2A	Synophrys	HP:0000664
7319	UBE2A	Midface retrusion	HP:0011800
7319	UBE2A	Downturned corners of mouth	HP:0002714
7319	UBE2A	Wide mouth	HP:0000154
7319	UBE2A	Broad face	HP:0000283
7319	UBE2A	Broad neck	HP:0000475
7319	UBE2A	Regional abnormality of skin	HP:0011356
7319	UBE2A	Depressed nasal bridge	HP:0005280
7319	UBE2A	Poor speech	HP:0002465
7319	UBE2A	Intellectual disability	HP:0001249
7319	UBE2A	Abnormal hair whorl	HP:0010721
7319	UBE2A	Echolalia	HP:0010529
7319	UBE2A	Seizures	HP:0001250
7319	UBE2A	Pes planus	HP:0001763
7319	UBE2A	Increased body weight	HP:0004324
7319	UBE2A	Thin vermilion border	HP:0000233
7319	UBE2A	Deeply set eye	HP:0000490
7319	UBE2A	Short foot	HP:0001773
7319	UBE2A	Hirsutism	HP:0001007
7319	UBE2A	Low posterior hairline	HP:0002162
7319	UBE2A	Nail dysplasia	HP:0002164
7319	UBE2A	Micropenis	HP:0000054
7319	UBE2A	Dry skin	HP:0000958
7319	UBE2A	Hypointensity of cerebral white matter on MRI	HP:0007103
285848	PNPLA1	Ichthyosis	HP:0008064
285848	PNPLA1	Short stature	HP:0004322
285848	PNPLA1	Failure to thrive	HP:0001508
285848	PNPLA1	Hypohidrosis	HP:0000966
285848	PNPLA1	Congenital ichthyosiform erythroderma	HP:0007431
285848	PNPLA1	Autosomal recessive inheritance	HP:0000007
285848	PNPLA1	Keratitis	HP:0000491
285848	PNPLA1	Hearing impairment	HP:0000365
285848	PNPLA1	Ectropion	HP:0000656
285848	PNPLA1	Palmoplantar keratoderma	HP:0000982
285848	PNPLA1	Corneal erosion	HP:0200020
285848	PNPLA1	Hypergranulosis	HP:0025114
285848	PNPLA1	Erythroderma	HP:0001019
285848	PNPLA1	Alopecia	HP:0001596
285848	PNPLA1	Abnormality of the nail	HP:0001597
285848	PNPLA1	Pruritus	HP:0000989
56479	KCNQ5	Absent speech	HP:0001344
56479	KCNQ5	Intellectual disability	HP:0001249
56479	KCNQ5	Seizures	HP:0001250
56479	KCNQ5	Variable expressivity	HP:0003828
56479	KCNQ5	Epileptic encephalopathy	HP:0200134
56479	KCNQ5	Autosomal dominant inheritance	HP:0000006
56479	KCNQ5	Unsteady gait	HP:0002317
56479	KCNQ5	Global developmental delay	HP:0001263
7337	UBE3A	Macrocephaly	HP:0000256
7337	UBE3A	Drooling	HP:0002307
7337	UBE3A	Autosomal dominant inheritance	HP:0000006
7337	UBE3A	Clumsiness	HP:0002312
7337	UBE3A	Apraxia	HP:0002186
7337	UBE3A	Generalized hypotonia	HP:0001290
7337	UBE3A	Limb tremor	HP:0200085
7337	UBE3A	Wide mouth	HP:0000154
7337	UBE3A	Epicanthus	HP:0000286
7337	UBE3A	Macroglossia	HP:0000158
7337	UBE3A	Myopia	HP:0000545
7337	UBE3A	Sporadic	HP:0003745
7337	UBE3A	Feeding difficulties in infancy	HP:0008872
7337	UBE3A	Mask-like facies	HP:0000298
7337	UBE3A	Widely spaced teeth	HP:0000687
7337	UBE3A	Mandibular prognathia	HP:0000303
7337	UBE3A	EEG abnormality	HP:0002353
7337	UBE3A	Protruding tongue	HP:0010808
7337	UBE3A	Joint hyperflexibility	HP:0005692
7337	UBE3A	Absent speech	HP:0001344
7337	UBE3A	Exotropia	HP:0000577
7337	UBE3A	Hyperreflexia	HP:0001347
7337	UBE3A	Sleep-wake cycle disturbance	HP:0006979
7337	UBE3A	Hypoplasia of the maxilla	HP:0000327
7337	UBE3A	Cerebral cortical atrophy	HP:0002120
7337	UBE3A	Progressive gait ataxia	HP:0007240
7337	UBE3A	Autism	HP:0000717
7337	UBE3A	Obsessive-compulsive behavior	HP:0000722
7337	UBE3A	Finger syndactyly	HP:0006101
7337	UBE3A	Abnormality of cardiovascular system morphology	HP:0030680
7337	UBE3A	Broad-based gait	HP:0002136
7337	UBE3A	Scoliosis	HP:0002650
7337	UBE3A	Flat occiput	HP:0005469
7337	UBE3A	Intellectual disability	HP:0001249
7337	UBE3A	Short stature	HP:0004322
7337	UBE3A	Seizures	HP:0001250
7337	UBE3A	Ataxia	HP:0001251
7337	UBE3A	Constipation	HP:0002019
7337	UBE3A	Muscular hypotonia	HP:0001252
7337	UBE3A	Strabismus	HP:0000486
7337	UBE3A	Intellectual disability, progressive	HP:0006887
7337	UBE3A	Obesity	HP:0001513
7337	UBE3A	Attention deficit hyperactivity disorder	HP:0007018
7337	UBE3A	Deeply set eye	HP:0000490
7337	UBE3A	Postnatal microcephaly	HP:0005484
7337	UBE3A	Paroxysmal bursts of laughter	HP:0000749
7337	UBE3A	Delayed speech and language development	HP:0000750
7337	UBE3A	Downslanted palpebral fissures	HP:0000494
7337	UBE3A	Fair hair	HP:0002286
7337	UBE3A	Global developmental delay	HP:0001263
7337	UBE3A	Intellectual disability, severe	HP:0010864
7337	UBE3A	Hyperactivity	HP:0000752
7337	UBE3A	Clinodactyly of the 5th finger	HP:0004209
7337	UBE3A	Hypopigmentation of the skin	HP:0001010
7337	UBE3A	Motor delay	HP:0001270
7337	UBE3A	Brachycephaly	HP:0000248
7337	UBE3A	Blue irides	HP:0000635
7337	UBE3A	Nystagmus	HP:0000639
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
7343	UBTF	Feeding difficulties	HP:0011968
7343	UBTF	Seizures	HP:0001250
7343	UBTF	Ataxia	HP:0001251
7343	UBTF	Neurodegeneration	HP:0002180
7343	UBTF	Developmental regression	HP:0002376
7343	UBTF	Cerebral cortical atrophy	HP:0002120
7343	UBTF	Spasticity	HP:0001257
7343	UBTF	Intellectual disability, profound	HP:0002187
7343	UBTF	Rigidity	HP:0002063
7343	UBTF	Global developmental delay	HP:0001263
7343	UBTF	Mental deterioration	HP:0001268
7343	UBTF	Parkinsonism	HP:0001300
7343	UBTF	Dystonia	HP:0001332
7343	UBTF	Axonal loss	HP:0003447
7343	UBTF	Abnormal pyramidal sign	HP:0007256
7343	UBTF	Cerebellar atrophy	HP:0001272
7343	UBTF	Chorea	HP:0002072
7343	UBTF	Peripheral demyelination	HP:0011096
7343	UBTF	Hypoplasia of the corpus callosum	HP:0002079
7343	UBTF	Dysphagia	HP:0002015
7345	UCHL1	Intention tremor	HP:0002080
7345	UCHL1	Myopia	HP:0000545
7345	UCHL1	Tetraparesis	HP:0002273
7345	UCHL1	Pes cavus	HP:0001761
7345	UCHL1	Pes planus	HP:0001763
7345	UCHL1	Neurodegeneration	HP:0002180
7345	UCHL1	Sensorimotor neuropathy	HP:0007141
7345	UCHL1	Autosomal recessive inheritance	HP:0000007
7345	UCHL1	Head titubation	HP:0002599
7345	UCHL1	Optic atrophy	HP:0000648
7345	UCHL1	Spastic paraplegia	HP:0001258
7345	UCHL1	Myokymia	HP:0002411
7345	UCHL1	Cerebral atrophy	HP:0002059
7345	UCHL1	Fasciculations	HP:0002380
7345	UCHL1	Progressive visual loss	HP:0000529
7345	UCHL1	Myotonia	HP:0002486
7345	UCHL1	Ankle clonus	HP:0011448
7345	UCHL1	Cerebellar atrophy	HP:0001272
7345	UCHL1	Flexion contracture	HP:0001371
7345	UCHL1	Progressive	HP:0003676
7345	UCHL1	Dysmetria	HP:0001310
7345	UCHL1	Babinski sign	HP:0003487
7345	UCHL1	Nystagmus	HP:0000639
23729	SHPK	Macrocephaly	HP:0000256
23729	SHPK	Neonatal asphyxia	HP:0012768
23729	SHPK	Portal hypertension	HP:0001409
23729	SHPK	Short stature	HP:0004322
23729	SHPK	Diastasis recti	HP:0001540
23729	SHPK	Ventriculomegaly	HP:0002119
23729	SHPK	Hypochromic microcytic anemia	HP:0004840
23729	SHPK	Abnormal CNS myelination	HP:0011400
23729	SHPK	Hip dysplasia	HP:0001385
23729	SHPK	Steatorrhea	HP:0002570
23729	SHPK	Shallow orbits	HP:0000586
23729	SHPK	Large fontanelles	HP:0000239
23729	SHPK	Severe postnatal growth retardation	HP:0008850
23729	SHPK	Hepatitis	HP:0012115
23729	SHPK	Cholestatic liver disease	HP:0002611
23729	SHPK	Renal insufficiency	HP:0000083
23729	SHPK	Arthrogryposis multiplex congenita	HP:0002804
23729	SHPK	Inguinal hernia	HP:0000023
23729	SHPK	Breech presentation	HP:0001623
23729	SHPK	Hypotelorism	HP:0000601
23729	SHPK	Abnormal renal tubule morphology	HP:0000091
23729	SHPK	High forehead	HP:0000348
23729	SHPK	Subcortical cerebral atrophy	HP:0012157
23729	SHPK	Postprandial hyperglycemia	HP:0011998
23732	FRRS1L	Absent speech	HP:0001344
23732	FRRS1L	Intellectual disability	HP:0001249
23732	FRRS1L	Seizures	HP:0001250
23732	FRRS1L	Epileptic encephalopathy	HP:0200134
23732	FRRS1L	Autosomal recessive inheritance	HP:0000007
23732	FRRS1L	Developmental regression	HP:0002376
23732	FRRS1L	Gait disturbance	HP:0001288
23732	FRRS1L	Spasticity	HP:0001257
23732	FRRS1L	Generalized hypotonia	HP:0001290
23732	FRRS1L	Cerebral atrophy	HP:0002059
23732	FRRS1L	Global developmental delay	HP:0001263
23732	FRRS1L	Rigidity	HP:0002063
23732	FRRS1L	Choreoathetosis	HP:0001266
23732	FRRS1L	Myoclonus	HP:0001336
23732	FRRS1L	Cerebellar atrophy	HP:0001272
23732	FRRS1L	Nystagmus	HP:0000639
7351	UCP2	Hepatomegaly	HP:0002240
7351	UCP2	Hypoketotic hypoglycemia	HP:0001985
7351	UCP2	Seizures	HP:0001250
7351	UCP2	Lethargy	HP:0001254
7351	UCP2	Abnormal circulating fatty-acid concentration	HP:0004359
7351	UCP2	Progressive neurologic deterioration	HP:0002344
7351	UCP2	Agitation	HP:0000713
7351	UCP2	Coma	HP:0001259
7351	UCP2	Neonatal hypoglycemia	HP:0001998
7351	UCP2	Hyperhidrosis	HP:0000975
7351	UCP2	Global developmental delay	HP:0001263
7351	UCP2	Large for gestational age	HP:0001520
7351	UCP2	Secondary growth hormone deficiency	HP:0008240
7351	UCP2	Tachycardia	HP:0001649
7351	UCP2	Pallor	HP:0000980
7351	UCP2	Vitamin B1 deficiency	HP:0100503
7351	UCP2	Hyperinsulinemic hypoglycemia	HP:0000825
7351	UCP2	Drowsiness	HP:0002329
7351	UCP2	Vomiting	HP:0002013
7351	UCP2	Diarrhea	HP:0002014
7351	UCP2	Pancreatic islet-cell hyperplasia	HP:0004510
7353	UFD1	Umbilical hernia	HP:0001537
7353	UFD1	Tetany	HP:0001281
7353	UFD1	Intestinal malrotation	HP:0002566
7353	UFD1	Turricephaly	HP:0000262
7353	UFD1	Cataract	HP:0000518
7353	UFD1	Hypoplasia of the thymus	HP:0000778
7353	UFD1	Abnormal aortic arch morphology	HP:0012303
7353	UFD1	Malar flattening	HP:0000272
7353	UFD1	Long face	HP:0000276
7353	UFD1	Inguinal hernia	HP:0000023
7353	UFD1	Polyhydramnios	HP:0001561
7353	UFD1	Seborrheic dermatitis	HP:0001051
7353	UFD1	Cryptorchidism	HP:0000028
7353	UFD1	Hypopigmented skin patches	HP:0001053
7353	UFD1	Epicanthus	HP:0000286
7353	UFD1	Acne	HP:0001061
7353	UFD1	Foot polydactyly	HP:0001829
7353	UFD1	Hypospadias	HP:0000047
7353	UFD1	Bowel incontinence	HP:0002607
7353	UFD1	Specific learning disability	HP:0001328
7353	UFD1	Asthma	HP:0002099
7353	UFD1	Dysphasia	HP:0002357
7353	UFD1	Hypothyroidism	HP:0000821
7353	UFD1	Abnormal lung lobation	HP:0002101
7353	UFD1	Microphthalmia	HP:0000568
7353	UFD1	Cholelithiasis	HP:0001081
7353	UFD1	Varicose veins	HP:0002619
7353	UFD1	Impaired T cell function	HP:0005435
7353	UFD1	Multiple suture craniosynostosis	HP:0011324
7353	UFD1	Joint hyperflexibility	HP:0005692
7353	UFD1	Hypertelorism	HP:0000316
7353	UFD1	Hypoparathyroidism	HP:0000829
7353	UFD1	Laryngomalacia	HP:0001601
7353	UFD1	Short philtrum	HP:0000322
7353	UFD1	Hyperthyroidism	HP:0000836
7353	UFD1	Upslanted palpebral fissure	HP:0000582
7353	UFD1	Nasal speech	HP:0001611
7353	UFD1	Vesicoureteral reflux	HP:0000076
7353	UFD1	Thrombocytopenia	HP:0001873
7353	UFD1	Hypocalcemia	HP:0002901
7353	UFD1	Long philtrum	HP:0000343
7353	UFD1	Abnormality of the pharynx	HP:0000600
7353	UFD1	Renal hypoplasia	HP:0000089
7353	UFD1	Arthritis	HP:0001369
7353	UFD1	Scoliosis	HP:0002650
7353	UFD1	Micrognathia	HP:0000347
7353	UFD1	Arrhinencephaly	HP:0002139
7353	UFD1	Ventricular septal defect	HP:0001629
7353	UFD1	Atrial septal defect	HP:0001631
7353	UFD1	Tetralogy of Fallot	HP:0001636
7353	UFD1	Occipital myelomeningocele	HP:0007271
7353	UFD1	Abnormal pulmonary valve morphology	HP:0001641
7353	UFD1	Attention deficit hyperactivity disorder	HP:0007018
7353	UFD1	Patent ductus arteriosus	HP:0001643
7353	UFD1	Chronic obstructive pulmonary disease	HP:0006510
7353	UFD1	Abnormal aortic valve morphology	HP:0001646
7353	UFD1	Retinal arteriolar tortuosity	HP:0001136
7353	UFD1	Polycystic kidney dysplasia	HP:0000113
7353	UFD1	Low-set ears	HP:0000369
7353	UFD1	Posterior embryotoxon	HP:0000627
7353	UFD1	Truncus arteriosus	HP:0001660
7353	UFD1	Hypertensive crisis	HP:0100735
7353	UFD1	Small earlobe	HP:0000385
7353	UFD1	Abnormality of the uterus	HP:0000130
7353	UFD1	Platybasia	HP:0002691
7353	UFD1	Chronic otitis media	HP:0000389
7353	UFD1	Bipolar affective disorder	HP:0007302
7353	UFD1	Optic atrophy	HP:0000648
7353	UFD1	Hand polydactyly	HP:0001161
7353	UFD1	Overfolded helix	HP:0000396
7353	UFD1	Arachnodactyly	HP:0001166
7353	UFD1	Tricuspid atresia	HP:0011662
7353	UFD1	Atelectasis	HP:0100750
7353	UFD1	Schizophrenia	HP:0100753
7353	UFD1	Autoimmunity	HP:0002960
7353	UFD1	Conductive hearing impairment	HP:0000405
7353	UFD1	Abnormality of the tonsils	HP:0100765
7353	UFD1	Carious teeth	HP:0000670
7353	UFD1	Bulbous nose	HP:0000414
7353	UFD1	Narrow mouth	HP:0000160
7353	UFD1	Immunodeficiency	HP:0002721
7353	UFD1	Feeding difficulties in infancy	HP:0008872
7353	UFD1	Prominent nasal bridge	HP:0000426
7353	UFD1	Abnormality of dental enamel	HP:0000682
7353	UFD1	Wide nasal bridge	HP:0000431
7353	UFD1	Cleft palate	HP:0000175
7353	UFD1	Patellar dislocation	HP:0002999
7353	UFD1	Multiple renal cysts	HP:0005562
7353	UFD1	Gastrointestinal hemorrhage	HP:0002239
7353	UFD1	Choanal atresia	HP:0000453
7353	UFD1	Aganglionic megacolon	HP:0002251
7353	UFD1	Depressivity	HP:0000716
7353	UFD1	Autism	HP:0000717
7353	UFD1	Splenomegaly	HP:0001744
7353	UFD1	Purpura	HP:0000979
7353	UFD1	Short neck	HP:0000470
7353	UFD1	Short stature	HP:0004322
7353	UFD1	Seizures	HP:0001250
7353	UFD1	Talipes equinovarus	HP:0001762
7353	UFD1	Constipation	HP:0002019
7353	UFD1	Anxiety	HP:0000739
7353	UFD1	Failure to thrive	HP:0001508
7353	UFD1	Gastroesophageal reflux	HP:0002020
7353	UFD1	Muscular hypotonia	HP:0001252
7353	UFD1	Strabismus	HP:0000486
7353	UFD1	Anal atresia	HP:0002023
7353	UFD1	Intrauterine growth retardation	HP:0001511
7353	UFD1	Corneal neovascularization	HP:0011496
7353	UFD1	Intellectual disability, mild	HP:0001256
7353	UFD1	Obesity	HP:0001513
7353	UFD1	Hydrocephalus	HP:0000238
7353	UFD1	Downslanted palpebral fissures	HP:0000494
7353	UFD1	Global developmental delay	HP:0001263
7353	UFD1	Glaucoma	HP:0000501
7353	UFD1	Telecanthus	HP:0000506
7353	UFD1	Ptosis	HP:0000508
7353	UFD1	Microcephaly	HP:0000252
7353	UFD1	Abnormality of the thorax	HP:0000765
7353	UFD1	Myalgia	HP:0003326
64699	TMPRSS3	Childhood onset	HP:0011463
64699	TMPRSS3	Autosomal recessive inheritance	HP:0000007
64699	TMPRSS3	Sensorineural hearing impairment	HP:0000407
7355	SLC35A2	Delayed myelination	HP:0012448
7355	SLC35A2	Somatic mosaicism	HP:0001442
7355	SLC35A2	Seizures	HP:0001250
7355	SLC35A2	Open mouth	HP:0000194
7355	SLC35A2	Gastroesophageal reflux	HP:0002020
7355	SLC35A2	Epileptic encephalopathy	HP:0200134
7355	SLC35A2	Cerebellar hypoplasia	HP:0001321
7355	SLC35A2	Infantile onset	HP:0003593
7355	SLC35A2	Generalized hypotonia	HP:0001290
7355	SLC35A2	Cerebral atrophy	HP:0002059
7355	SLC35A2	X-linked dominant inheritance	HP:0001423
7355	SLC35A2	Wide nasal bridge	HP:0000431
7355	SLC35A2	Global developmental delay	HP:0001263
7355	SLC35A2	Thick vermilion border	HP:0012471
7355	SLC35A2	Coarse facial features	HP:0000280
7355	SLC35A2	Hypsarrhythmia	HP:0002521
7355	SLC35A2	Ocular flutter	HP:0031931
7355	SLC35A2	Microcephaly	HP:0000252
7355	SLC35A2	Thick eyebrow	HP:0000574
7355	SLC35A2	Rod-cone dystrophy	HP:0000510
7355	SLC35A2	Recurrent infections	HP:0002719
7355	SLC35A2	Hypoplasia of the corpus callosum	HP:0002079
7355	SLC35A2	Nystagmus	HP:0000639
23742	NPAP1	Clinodactyly	HP:0030084
23742	NPAP1	Acromicria	HP:0031878
23742	NPAP1	Syndactyly	HP:0001159
23742	NPAP1	Generalized hypotonia	HP:0001290
23742	NPAP1	Dolichocephaly	HP:0000268
23742	NPAP1	Primary amenorrhea	HP:0000786
23742	NPAP1	Infertility	HP:0000789
23742	NPAP1	Decreased fetal movement	HP:0001558
23742	NPAP1	Downturned corners of mouth	HP:0002714
23742	NPAP1	Cryptorchidism	HP:0000028
23742	NPAP1	Hypermetropia	HP:0000540
23742	NPAP1	Recurrent respiratory infections	HP:0002205
23742	NPAP1	Carious teeth	HP:0000670
23742	NPAP1	Polyphagia	HP:0002591
23742	NPAP1	Impaired pain sensation	HP:0007328
23742	NPAP1	Sporadic	HP:0003745
23742	NPAP1	Myopia	HP:0000545
23742	NPAP1	Sleep apnea	HP:0010535
23742	NPAP1	Neonatal hypotonia	HP:0001319
23742	NPAP1	Genu valgum	HP:0002857
23742	NPAP1	Osteopenia	HP:0000938
23742	NPAP1	Osteoporosis	HP:0000939
23742	NPAP1	Hypogonadotrophic hypogonadism	HP:0000044
23742	NPAP1	Scrotal hypoplasia	HP:0000046
23742	NPAP1	Specific learning disability	HP:0001328
23742	NPAP1	Iris hypopigmentation	HP:0007730
23742	NPAP1	Esotropia	HP:0000565
23742	NPAP1	Micropenis	HP:0000054
23742	NPAP1	Delayed puberty	HP:0000823
23742	NPAP1	Short palm	HP:0004279
23742	NPAP1	Growth hormone deficiency	HP:0000824
23742	NPAP1	Precocious puberty	HP:0000826
23742	NPAP1	Narrow palm	HP:0004283
23742	NPAP1	Frontal upsweep of hair	HP:0002236
23742	NPAP1	Clitoral hypoplasia	HP:0000060
23742	NPAP1	Narrow nasal bridge	HP:0000446
23742	NPAP1	Hypoplastic labia minora	HP:0000064
23742	NPAP1	Almond-shaped palpebral fissure	HP:0007874
23742	NPAP1	Psychosis	HP:0000709
23742	NPAP1	Upslanted palpebral fissure	HP:0000582
23742	NPAP1	Ventriculomegaly	HP:0002119
23742	NPAP1	Abdominal obesity	HP:0012743
23742	NPAP1	Hyperinsulinemia	HP:0000842
23742	NPAP1	Nasal speech	HP:0001611
23742	NPAP1	Autism	HP:0000717
23742	NPAP1	Adrenal insufficiency	HP:0000846
23742	NPAP1	Temperature instability	HP:0005968
23742	NPAP1	Narrow forehead	HP:0000341
23742	NPAP1	Generalized hypopigmentation	HP:0007513
23742	NPAP1	Type II diabetes mellitus	HP:0005978
23742	NPAP1	Scoliosis	HP:0002650
23742	NPAP1	Thin upper lip vermilion	HP:0000219
23742	NPAP1	Hypopigmentation of hair	HP:0005599
23742	NPAP1	Cutaneous photosensitivity	HP:0000992
23742	NPAP1	Seizures	HP:0001250
23742	NPAP1	Short stature	HP:0004322
23742	NPAP1	Poor fine motor coordination	HP:0007010
23742	NPAP1	Poor gross motor coordination	HP:0007015
23742	NPAP1	Hypoventilation	HP:0002791
23742	NPAP1	Hip dysplasia	HP:0001385
23742	NPAP1	Attention deficit hyperactivity disorder	HP:0007018
23742	NPAP1	Oligomenorrhea	HP:0000876
23742	NPAP1	Short foot	HP:0001773
23742	NPAP1	Delayed speech and language development	HP:0000750
23742	NPAP1	Global developmental delay	HP:0001263
23742	NPAP1	Poor suck	HP:0002033
23742	NPAP1	Small hand	HP:0200055
23742	NPAP1	Motor delay	HP:0001270
23742	NPAP1	Kyphosis	HP:0002808
23742	NPAP1	Radial deviation of finger	HP:0009466
23742	NPAP1	Failure to thrive in infancy	HP:0001531
23742	NPAP1	Decreased muscle mass	HP:0003199
23746	AIPL1	Abnormal electroretinogram	HP:0000512
23746	AIPL1	Autosomal dominant inheritance	HP:0000006
23746	AIPL1	Cataract	HP:0000518
23746	AIPL1	Autosomal recessive inheritance	HP:0000007
23746	AIPL1	Undetectable light- and dark-adapted electroretinogram	HP:0007688
23746	AIPL1	Pendular nystagmus	HP:0012043
23746	AIPL1	X-linked recessive inheritance	HP:0001419
23746	AIPL1	Nyctalopia	HP:0000662
23746	AIPL1	Hemiplegia/hemiparesis	HP:0004374
23746	AIPL1	Abnormality of retinal pigmentation	HP:0007703
23746	AIPL1	Abnormality of neuronal migration	HP:0002269
23746	AIPL1	Optic disc pallor	HP:0000543
23746	AIPL1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
23746	AIPL1	Intellectual disability	HP:0001249
23746	AIPL1	Seizures	HP:0001250
23746	AIPL1	Attenuation of retinal blood vessels	HP:0007843
23746	AIPL1	Cone/cone-rod dystrophy	HP:0000548
23746	AIPL1	Encephalocele	HP:0002084
23746	AIPL1	Muscular hypotonia	HP:0001252
23746	AIPL1	Photophobia	HP:0000613
23746	AIPL1	Color vision defect	HP:0000551
23746	AIPL1	Macular atrophy	HP:0007401
23746	AIPL1	Blindness	HP:0000618
23746	AIPL1	Constriction of peripheral visual field	HP:0001133
23746	AIPL1	Hearing impairment	HP:0000365
23746	AIPL1	Reduced visual acuity	HP:0007663
23746	AIPL1	Global developmental delay	HP:0001263
23746	AIPL1	Keratoconus	HP:0000563
23746	AIPL1	Abnormality of fundus pigmentation	HP:0031605
23746	AIPL1	Severely reduced visual acuity	HP:0001141
23746	AIPL1	Visual impairment	HP:0000505
23746	AIPL1	Abnormality of the optic disc	HP:0012795
23746	AIPL1	Rod-cone dystrophy	HP:0000510
23746	AIPL1	Nystagmus	HP:0000639
7369	UMOD	Multiple glomerular cysts	HP:0100611
7369	UMOD	Enuresis	HP:0000805
7369	UMOD	Hyperuricemia	HP:0002149
7369	UMOD	Juvenile onset	HP:0003621
7369	UMOD	Autosomal dominant inheritance	HP:0000006
7369	UMOD	Renal corticomedullary cysts	HP:0000108
7369	UMOD	Gout	HP:0001997
7369	UMOD	Nephropathy	HP:0000112
7369	UMOD	Tubulointerstitial nephritis	HP:0001970
7369	UMOD	Multiple small medullary renal cysts	HP:0008659
7369	UMOD	Renal insufficiency	HP:0000083
7369	UMOD	Multiple renal cysts	HP:0005562
7369	UMOD	Abnormal renal tubule morphology	HP:0000091
7369	UMOD	Nephritis	HP:0000123
7369	UMOD	Tubular atrophy	HP:0000092
7369	UMOD	Progressive	HP:0003676
7369	UMOD	Stage 5 chronic kidney disease	HP:0003774
56521	DNAJC12	Autosomal recessive inheritance	HP:0000007
56521	DNAJC12	Muscular hypotonia of the trunk	HP:0008936
56521	DNAJC12	Intellectual disability, mild	HP:0001256
56521	DNAJC12	Attention deficit hyperactivity disorder	HP:0007018
56521	DNAJC12	Limb hypertonia	HP:0002509
56521	DNAJC12	Delayed speech and language development	HP:0000750
56521	DNAJC12	Global developmental delay	HP:0001263
56521	DNAJC12	Bradykinesia	HP:0002067
56521	DNAJC12	Parkinsonism	HP:0001300
56521	DNAJC12	Broad-based gait	HP:0002136
56521	DNAJC12	Oculogyric crisis	HP:0010553
56521	DNAJC12	Hypertonia	HP:0001276
56521	DNAJC12	Nystagmus	HP:0000639
7372	UMPS	Reduced orotidine 5-prime phosphate decarboxylase activity	HP:0003267
7372	UMPS	Abnormal toenail morphology	HP:0008388
7372	UMPS	Abnormality of the ureter	HP:0000069
7372	UMPS	Orotic acid crystalluria	HP:0003526
7372	UMPS	Autosomal recessive inheritance	HP:0000007
7372	UMPS	Anisocytosis	HP:0011273
7372	UMPS	Pyrimidine-responsive megaloblastic anemia	HP:0003339
7372	UMPS	Splenomegaly	HP:0001744
7372	UMPS	Oroticaciduria	HP:0003218
7372	UMPS	Hematuria	HP:0000790
7372	UMPS	Folate-unresponsive megaloblastic anemia	HP:0004826
7372	UMPS	Aminoaciduria	HP:0003355
7372	UMPS	Recurrent respiratory infections	HP:0002205
7372	UMPS	Ventricular septal defect	HP:0001629
7372	UMPS	Poikilocytosis	HP:0004447
7372	UMPS	Atrial septal defect	HP:0001631
7372	UMPS	Failure to thrive	HP:0001508
7372	UMPS	Hypochromia	HP:0032231
7372	UMPS	Hip dysplasia	HP:0001385
7372	UMPS	Patent ductus arteriosus	HP:0001643
7372	UMPS	Downslanted palpebral fissures	HP:0000494
7372	UMPS	Wide nasal bridge	HP:0000431
7372	UMPS	Anemia	HP:0001903
7372	UMPS	Global developmental delay	HP:0001263
7372	UMPS	Low-set, posteriorly rotated ears	HP:0000368
7372	UMPS	Impaired T cell function	HP:0005435
7372	UMPS	Hypertelorism	HP:0000316
7373	COL14A1	Renal cell carcinoma	HP:0005584
7373	COL14A1	Transitional cell carcinoma of the bladder	HP:0006740
7373	COL14A1	Palmoplantar keratoderma	HP:0000982
7373	COL14A1	Breast carcinoma	HP:0003002
7373	COL14A1	Colon cancer	HP:0003003
7373	COL14A1	Hodgkin lymphoma	HP:0012189
7373	COL14A1	Abnormality of the nail	HP:0001597
7373	COL14A1	Neoplasm of the pancreas	HP:0002894
7374	UNG	Decreased circulating IgA level	HP:0002720
7374	UNG	Immunodeficiency	HP:0002721
7374	UNG	Recurrent upper and lower respiratory tract infections	HP:0200117
7374	UNG	Autosomal recessive inheritance	HP:0000007
7374	UNG	Increased circulating IgM level	HP:0003496
7374	UNG	Decreased circulating IgG level	HP:0004315
7374	UNG	Lymphadenopathy	HP:0002716
7374	UNG	Recurrent bacterial infections	HP:0002718
7374	UNG	Impaired Ig class switch recombination	HP:0002959
7374	UNG	Epididymitis	HP:0000031
7381	UQCRB	Metabolic acidosis	HP:0001942
7381	UQCRB	Autosomal recessive inheritance	HP:0000007
7381	UQCRB	Hypoglycemia	HP:0001943
7381	UQCRB	Increased serum lactate	HP:0002151
23765	IL17RA	Dyspareunia	HP:0030016
23765	IL17RA	Hyperkeratosis	HP:0000962
23765	IL17RA	Abnormal toenail morphology	HP:0008388
23765	IL17RA	Autosomal recessive inheritance	HP:0000007
23765	IL17RA	Recurrent urinary tract infections	HP:0000010
23765	IL17RA	Abnormal vagina morphology	HP:0000142
23765	IL17RA	Abnormal fingernail morphology	HP:0001231
23765	IL17RA	Abnormality of temperature regulation	HP:0004370
23765	IL17RA	Abnormal endocardium morphology	HP:0004306
23765	IL17RA	Hepatitis	HP:0012115
23765	IL17RA	Recurrent otitis media	HP:0000403
23765	IL17RA	Recurrent bronchitis	HP:0002837
23765	IL17RA	Hematuria	HP:0000790
23765	IL17RA	Cheilitis	HP:0100825
23765	IL17RA	Skin rash	HP:0000988
23765	IL17RA	Broad nail	HP:0001821
23765	IL17RA	Pruritus	HP:0000989
23765	IL17RA	Recurrent respiratory infections	HP:0002205
23765	IL17RA	Erythema	HP:0010783
23765	IL17RA	Papule	HP:0200034
23765	IL17RA	Seizures	HP:0001250
23765	IL17RA	Pustule	HP:0200039
23765	IL17RA	Recurrent sinusitis	HP:0011108
23765	IL17RA	Recurrent Staphylococcus aureus infections	HP:0002726
23765	IL17RA	Feeding difficulties in infancy	HP:0008872
23765	IL17RA	Chronic mucocutaneous candidiasis	HP:0002728
23765	IL17RA	Skin ulcer	HP:0200042
23765	IL17RA	Abnormality of dental enamel	HP:0000682
23765	IL17RA	Abnormality of vision	HP:0000504
23765	IL17RA	Hemoptysis	HP:0002105
23765	IL17RA	Folliculitis	HP:0025084
23765	IL17RA	Chronic furunculosis	HP:0011132
23765	IL17RA	Cutaneous abscess	HP:0031292
23765	IL17RA	Cough	HP:0012735
23767	FLRT3	Ichthyosis	HP:0008064
23767	FLRT3	Gynecomastia	HP:0000771
23767	FLRT3	Autosomal dominant inheritance	HP:0000006
23767	FLRT3	Autosomal recessive inheritance	HP:0000007
23767	FLRT3	Gait disturbance	HP:0001288
23767	FLRT3	Decreased fertility	HP:0000144
23767	FLRT3	Primary amenorrhea	HP:0000786
23767	FLRT3	Infertility	HP:0000789
23767	FLRT3	Sensorineural hearing impairment	HP:0000407
23767	FLRT3	Cryptorchidism	HP:0000028
23767	FLRT3	Decreased testicular size	HP:0008734
23767	FLRT3	Erectile abnormalities	HP:0100639
23767	FLRT3	Sparse axillary hair	HP:0002215
23767	FLRT3	Color vision defect	HP:0000551
23767	FLRT3	Osteopenia	HP:0000938
23767	FLRT3	Osteoporosis	HP:0000939
23767	FLRT3	Hypogonadotrophic hypogonadism	HP:0000044
23767	FLRT3	Muscle weakness	HP:0001324
23767	FLRT3	Cleft palate	HP:0000175
23767	FLRT3	Sparse pubic hair	HP:0002225
23767	FLRT3	Micropenis	HP:0000054
23767	FLRT3	Paraplegia	HP:0010550
23767	FLRT3	Delayed puberty	HP:0000823
23767	FLRT3	Bimanual synkinesia	HP:0001335
23767	FLRT3	Tremor	HP:0001337
23767	FLRT3	Hyposmia	HP:0004409
23767	FLRT3	Delayed skeletal maturation	HP:0002750
23767	FLRT3	Anterior hypopituitarism	HP:0000830
23767	FLRT3	Dyspareunia	HP:0030016
23767	FLRT3	Recurrent fractures	HP:0002757
23767	FLRT3	Abnormality of the voice	HP:0001608
23767	FLRT3	Anosmia	HP:0000458
23767	FLRT3	Reduced number of teeth	HP:0009804
23767	FLRT3	Abnormality of cardiovascular system morphology	HP:0030680
23767	FLRT3	Skeletal dysplasia	HP:0002652
23767	FLRT3	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
23767	FLRT3	Pes cavus	HP:0001761
23767	FLRT3	Seizures	HP:0001250
23767	FLRT3	Ataxia	HP:0001251
23767	FLRT3	Pes planus	HP:0001763
23767	FLRT3	Muscular hypotonia	HP:0001252
23767	FLRT3	Renal agenesis	HP:0000104
23767	FLRT3	Obesity	HP:0001513
23767	FLRT3	Dysarthria	HP:0001260
23767	FLRT3	Hearing impairment	HP:0000365
23767	FLRT3	Breast hypoplasia	HP:0003187
23767	FLRT3	Visual impairment	HP:0000505
23767	FLRT3	Ptosis	HP:0000508
23767	FLRT3	Reduced bone mineral density	HP:0004349
23767	FLRT3	Nystagmus	HP:0000639
23769	FLRT1	Pes cavus	HP:0001761
23769	FLRT1	Hyporeflexia of lower limbs	HP:0002600
23769	FLRT1	Optic atrophy	HP:0000648
23769	FLRT1	Multiple joint contractures	HP:0002828
23769	FLRT1	Progressive spastic paraplegia	HP:0007020
23769	FLRT1	Dysarthria	HP:0001260
23769	FLRT1	Hyperreflexia proximally	HP:0007054
23769	FLRT1	Hyperhidrosis	HP:0000975
23769	FLRT1	Distal lower limb amyotrophy	HP:0008944
23769	FLRT1	Delayed gross motor development	HP:0002194
23769	FLRT1	Difficulty walking	HP:0002355
23769	FLRT1	Decreased number of peripheral myelinated nerve fibers	HP:0003380
23769	FLRT1	Peripheral axonal neuropathy	HP:0003477
23769	FLRT1	Impaired vibration sensation in the lower limbs	HP:0002166
23769	FLRT1	Scoliosis	HP:0002650
23769	FLRT1	Exaggerated startle response	HP:0002267
23769	FLRT1	Optic disc pallor	HP:0000543
23769	FLRT1	Nystagmus	HP:0000639
7385	UQCRC2	Decreased liver function	HP:0001410
7385	UQCRC2	Hyperammonemia	HP:0001987
7385	UQCRC2	Increased serum pyruvate	HP:0003542
7385	UQCRC2	Metabolic acidosis	HP:0001942
7385	UQCRC2	Increased serum lactate	HP:0002151
7385	UQCRC2	Autosomal recessive inheritance	HP:0000007
7385	UQCRC2	Hypoglycemia	HP:0001943
7385	UQCRC2	Elevated hepatic transaminase	HP:0002910
7385	UQCRC2	Cognitive impairment	HP:0100543
7389	UROD	Cutaneous photosensitivity	HP:0000992
7389	UROD	Thin skin	HP:0000963
7389	UROD	Scleroderma	HP:0100324
7389	UROD	Autosomal dominant inheritance	HP:0000006
7389	UROD	Fragile skin	HP:0001030
7389	UROD	Autosomal recessive inheritance	HP:0000007
7389	UROD	Facial hypertrichosis	HP:0002219
7389	UROD	Onycholysis	HP:0001806
7389	UROD	Cirrhosis	HP:0001394
7389	UROD	Hyperpigmentation in sun-exposed areas	HP:0005586
7389	UROD	Hemolytic anemia	HP:0001878
7389	UROD	Hepatocellular carcinoma	HP:0001402
7389	UROD	Alopecia	HP:0001596
7390	UROS	Pink urine	HP:0032001
7390	UROS	Joint contracture of the hand	HP:0009473
7390	UROS	Loss of eyelashes	HP:0011457
7390	UROS	Abnormal blistering of the skin	HP:0008066
7390	UROS	Abnormality of the hand	HP:0001155
7390	UROS	Pathologic fracture	HP:0002756
7390	UROS	Recurrent fractures	HP:0002757
7390	UROS	Autosomal recessive inheritance	HP:0000007
7390	UROS	Keratoconjunctivitis	HP:0001096
7390	UROS	Vertebral compression fractures	HP:0002953
7390	UROS	Splenomegaly	HP:0001744
7390	UROS	Ectropion	HP:0000656
7390	UROS	Thrombocytopenia	HP:0001873
7390	UROS	Hemolytic anemia	HP:0001878
7390	UROS	Abnormality of the mouth	HP:0000153
7390	UROS	Atypical scarring of skin	HP:0000987
7390	UROS	Abnormality of the foot	HP:0001760
7390	UROS	Cutaneous photosensitivity	HP:0000992
7390	UROS	Immunodeficiency	HP:0002721
7390	UROS	Short stature	HP:0004322
7390	UROS	Scleroderma	HP:0100324
7390	UROS	Hypertrichosis	HP:0000998
7390	UROS	Abnormality of skin pigmentation	HP:0001000
7390	UROS	Abnormal circulating porphyrin concentration	HP:0010472
7390	UROS	Osteopenia	HP:0000938
7390	UROS	Recurrent skin infections	HP:0001581
7390	UROS	Osteolysis	HP:0002797
7390	UROS	Recurrent corneal erosions	HP:0000495
7390	UROS	Corneal scarring	HP:0000559
7390	UROS	Absent eyebrow	HP:0002223
7390	UROS	Thickened skin	HP:0001072
7390	UROS	Blepharitis	HP:0000498
7390	UROS	Hypopigmentation of the skin	HP:0001010
7390	UROS	Abnormal urinary color	HP:0012086
7390	UROS	Congenital onset	HP:0003577
7390	UROS	Hyperpigmentation of the skin	HP:0000953
7390	UROS	Cholelithiasis	HP:0001081
7390	UROS	Alopecia	HP:0001596
7390	UROS	Conjunctivitis	HP:0000509
7390	UROS	Nonimmune hydrops fetalis	HP:0001790
7399	USH2A	Abnormal electroretinogram	HP:0000512
7399	USH2A	Cataract	HP:0000518
7399	USH2A	Hypogonadism	HP:0000135
7399	USH2A	Autosomal recessive inheritance	HP:0000007
7399	USH2A	Optic atrophy	HP:0000648
7399	USH2A	Schizophrenia	HP:0100753
7399	USH2A	Conductive hearing impairment	HP:0000405
7399	USH2A	Nyctalopia	HP:0000662
7399	USH2A	Sensorineural hearing impairment	HP:0000407
7399	USH2A	Abnormality of retinal pigmentation	HP:0007703
7399	USH2A	Carious teeth	HP:0000670
7399	USH2A	Hypoplasia of penis	HP:0008736
7399	USH2A	Myopia	HP:0000545
7399	USH2A	Abnormal testis morphology	HP:0000035
7399	USH2A	Attenuation of retinal blood vessels	HP:0007843
7399	USH2A	Abnormality of dental enamel	HP:0000682
7399	USH2A	Wide nasal bridge	HP:0000431
7399	USH2A	Iris hypopigmentation	HP:0007730
7399	USH2A	Keratoconus	HP:0000563
7399	USH2A	Microdontia	HP:0000691
7399	USH2A	Bone spicule pigmentation of the retina	HP:0007737
7399	USH2A	Visual loss	HP:0000572
7399	USH2A	Scotoma	HP:0000575
7399	USH2A	Aplasia/Hypoplasia of the cerebellum	HP:0007360
7399	USH2A	Abnormality of dental color	HP:0011073
7399	USH2A	Hyperreflexia	HP:0001347
7399	USH2A	Cerebral cortical atrophy	HP:0002120
7399	USH2A	Hyperinsulinemia	HP:0000842
7399	USH2A	Depressivity	HP:0000716
7399	USH2A	Anteverted nares	HP:0000463
7399	USH2A	Congenital sensorineural hearing impairment	HP:0008527
7399	USH2A	Hemianopia	HP:0012377
7399	USH2A	Ophthalmoplegia	HP:0000602
7399	USH2A	Type II diabetes mellitus	HP:0005978
7399	USH2A	Atypical scarring of skin	HP:0000987
7399	USH2A	Intellectual disability	HP:0001249
7399	USH2A	Hallucinations	HP:0000738
7399	USH2A	Anxiety	HP:0000739
7399	USH2A	Ataxia	HP:0001251
7399	USH2A	Visual field defect	HP:0001123
7399	USH2A	Photophobia	HP:0000613
7399	USH2A	Obesity	HP:0001513
7399	USH2A	Blindness	HP:0000618
7399	USH2A	Abnormal retinal vascular morphology	HP:0008046
7399	USH2A	Glaucoma	HP:0000501
7399	USH2A	Progressive night blindness	HP:0007675
7399	USH2A	Subcortical cerebral atrophy	HP:0012157
7399	USH2A	Rod-cone dystrophy	HP:0000510
7399	USH2A	Nystagmus	HP:0000639
7401	CLRN1	Abnormal electroretinogram	HP:0000512
7401	CLRN1	Cataract	HP:0000518
7401	CLRN1	Autosomal dominant inheritance	HP:0000006
7401	CLRN1	Autosomal recessive inheritance	HP:0000007
7401	CLRN1	Hypogonadism	HP:0000135
7401	CLRN1	Undetectable light- and dark-adapted electroretinogram	HP:0007688
7401	CLRN1	Optic atrophy	HP:0000648
7401	CLRN1	X-linked recessive inheritance	HP:0001419
7401	CLRN1	Schizophrenia	HP:0100753
7401	CLRN1	Conductive hearing impairment	HP:0000405
7401	CLRN1	Nyctalopia	HP:0000662
7401	CLRN1	Sensorineural hearing impairment	HP:0000407
7401	CLRN1	Abnormality of retinal pigmentation	HP:0007703
7401	CLRN1	Hypoplasia of penis	HP:0008736
7401	CLRN1	Attenuation of retinal blood vessels	HP:0007843
7401	CLRN1	Abnormal testis morphology	HP:0000035
7401	CLRN1	Wide nasal bridge	HP:0000431
7401	CLRN1	Iris hypopigmentation	HP:0007730
7401	CLRN1	Keratoconus	HP:0000563
7401	CLRN1	High hypermetropia	HP:0008499
7401	CLRN1	Bone spicule pigmentation of the retina	HP:0007737
7401	CLRN1	Visual loss	HP:0000572
7401	CLRN1	Scotoma	HP:0000575
7401	CLRN1	Hyperreflexia	HP:0001347
7401	CLRN1	Hyperinsulinemia	HP:0000842
7401	CLRN1	Depressivity	HP:0000716
7401	CLRN1	Anteverted nares	HP:0000463
7401	CLRN1	Vestibular dysfunction	HP:0001751
7401	CLRN1	Hemianopia	HP:0012377
7401	CLRN1	Ophthalmoplegia	HP:0000602
7401	CLRN1	Type II diabetes mellitus	HP:0005978
7401	CLRN1	Atypical scarring of skin	HP:0000987
7401	CLRN1	Vestibular hypofunction	HP:0001756
7401	CLRN1	Intellectual disability	HP:0001249
7401	CLRN1	Hallucinations	HP:0000738
7401	CLRN1	Visual field defect	HP:0001123
7401	CLRN1	Astigmatism	HP:0000483
7401	CLRN1	Ataxia	HP:0001251
7401	CLRN1	Anxiety	HP:0000739
7401	CLRN1	Photophobia	HP:0000613
7401	CLRN1	Obesity	HP:0001513
7401	CLRN1	Blindness	HP:0000618
7401	CLRN1	Constriction of peripheral visual field	HP:0001133
7401	CLRN1	Abnormal retinal vascular morphology	HP:0008046
7401	CLRN1	Reduced visual acuity	HP:0007663
7401	CLRN1	Glaucoma	HP:0000501
7401	CLRN1	Abnormality of fundus pigmentation	HP:0031605
7401	CLRN1	Abnormal cochlea morphology	HP:0000375
7401	CLRN1	Visual impairment	HP:0000505
7401	CLRN1	Progressive night blindness	HP:0007675
7401	CLRN1	Rod-cone dystrophy	HP:0000510
7401	CLRN1	Nystagmus	HP:0000639
7403	KDM6A	Abnormality of the breast	HP:0000769
7403	KDM6A	Autosomal dominant inheritance	HP:0000006
7403	KDM6A	Intestinal malrotation	HP:0002566
7403	KDM6A	Congenital diaphragmatic hernia	HP:0000776
7403	KDM6A	Generalized hypotonia	HP:0001290
7403	KDM6A	Hip dislocation	HP:0002827
7403	KDM6A	Long eyelashes	HP:0000527
7403	KDM6A	Short 5th finger	HP:0009237
7403	KDM6A	Sparse and thin eyebrow	HP:0000535
7403	KDM6A	Cryptorchidism	HP:0000028
7403	KDM6A	Epicanthus	HP:0000286
7403	KDM6A	Hypoplasia of penis	HP:0008736
7403	KDM6A	Atrioventricular canal defect	HP:0006695
7403	KDM6A	Mask-like facies	HP:0000298
7403	KDM6A	Hypospadias	HP:0000047
7403	KDM6A	EEG abnormality	HP:0002353
7403	KDM6A	Recurrent aspiration pneumonia	HP:0002100
7403	KDM6A	Abnormal dermatoglyphics	HP:0007477
7403	KDM6A	Micropenis	HP:0000054
7403	KDM6A	Precocious puberty	HP:0000826
7403	KDM6A	Joint hyperflexibility	HP:0005692
7403	KDM6A	Ventriculomegaly	HP:0002119
7403	KDM6A	Cerebral cortical atrophy	HP:0002120
7403	KDM6A	Ureteropelvic junction obstruction	HP:0000074
7403	KDM6A	Premature thelarche	HP:0010314
7403	KDM6A	Coloboma	HP:0000589
7403	KDM6A	Blue sclerae	HP:0000592
7403	KDM6A	Duplicated collecting system	HP:0000081
7403	KDM6A	Congenital hypothyroidism	HP:0000851
7403	KDM6A	Hemolytic anemia	HP:0001878
7403	KDM6A	Scoliosis	HP:0002650
7403	KDM6A	Micrognathia	HP:0000347
7403	KDM6A	Ventricular septal defect	HP:0001629
7403	KDM6A	Congenital hip dislocation	HP:0001374
7403	KDM6A	Atrial septal defect	HP:0001631
7403	KDM6A	Anoperineal fistula	HP:0005218
7403	KDM6A	Joint hypermobility	HP:0001382
7403	KDM6A	Posteriorly rotated ears	HP:0000358
7403	KDM6A	Pulmonic stenosis	HP:0001642
7403	KDM6A	Joint laxity	HP:0001388
7403	KDM6A	Hearing impairment	HP:0000365
7403	KDM6A	Low-set ears	HP:0000369
7403	KDM6A	Preauricular pit	HP:0004467
7403	KDM6A	Small hand	HP:0200055
7403	KDM6A	Hemivertebrae	HP:0002937
7403	KDM6A	Cupped ear	HP:0000378
7403	KDM6A	Long palpebral fissure	HP:0000637
7403	KDM6A	Hydronephrosis	HP:0000126
7403	KDM6A	Nystagmus	HP:0000639
7403	KDM6A	Crossed fused renal ectopia	HP:0004736
7403	KDM6A	Preauricular skin tag	HP:0000384
7403	KDM6A	Brachydactyly	HP:0001156
7403	KDM6A	Central hypotonia	HP:0011398
7403	KDM6A	Abnormal cardiac septum morphology	HP:0001671
7403	KDM6A	Abnormal vertebral morphology	HP:0003468
7403	KDM6A	X-linked dominant inheritance	HP:0001423
7403	KDM6A	Coarctation of aorta	HP:0001680
7403	KDM6A	Macrotia	HP:0000400
7403	KDM6A	Recurrent otitis media	HP:0000403
7403	KDM6A	Conductive hearing impairment	HP:0000405
7403	KDM6A	Sensorineural hearing impairment	HP:0000407
7403	KDM6A	Protruding ear	HP:0000411
7403	KDM6A	Hypodontia	HP:0000668
7403	KDM6A	Recurrent infections	HP:0002719
7403	KDM6A	Abnormality of the dentition	HP:0000164
7403	KDM6A	Feeding difficulties in infancy	HP:0008872
7403	KDM6A	Lip pit	HP:0100267
7403	KDM6A	Cleft palate	HP:0000175
7403	KDM6A	Wide nasal bridge	HP:0000431
7403	KDM6A	Widely spaced teeth	HP:0000687
7403	KDM6A	Dental malocclusion	HP:0000689
7403	KDM6A	Microdontia	HP:0000691
7403	KDM6A	Depressed nasal tip	HP:0000437
7403	KDM6A	Autoimmune thrombocytopenia	HP:0001973
7403	KDM6A	Natal tooth	HP:0000695
7403	KDM6A	Short middle phalanx of finger	HP:0005819
7403	KDM6A	Prominent fingertip pads	HP:0001212
7403	KDM6A	Cafe-au-lait spot	HP:0000957
7403	KDM6A	Feeding difficulties	HP:0011968
7403	KDM6A	Postnatal growth retardation	HP:0008897
7403	KDM6A	Behavioral abnormality	HP:0000708
7403	KDM6A	Lower lip pit	HP:0000196
7403	KDM6A	Broad nasal tip	HP:0000455
7403	KDM6A	Neonatal hypoglycemia	HP:0001998
7403	KDM6A	Short columella	HP:0002000
7403	KDM6A	Sparse lateral eyebrow	HP:0005338
7403	KDM6A	High palate	HP:0000218
7403	KDM6A	Prominent eyelashes	HP:0011231
7403	KDM6A	Intellectual disability	HP:0001249
7403	KDM6A	Short stature	HP:0004322
7403	KDM6A	Seizures	HP:0001250
7403	KDM6A	Microcornea	HP:0000482
7403	KDM6A	Muscular hypotonia	HP:0001252
7403	KDM6A	Failure to thrive	HP:0001508
7403	KDM6A	Decreased body weight	HP:0004325
7403	KDM6A	Strabismus	HP:0000486
7403	KDM6A	Renal hypoplasia/aplasia	HP:0008678
7403	KDM6A	Eversion of lateral third of lower eyelids	HP:0007655
7403	KDM6A	Intrauterine growth retardation	HP:0001511
7403	KDM6A	Anal atresia	HP:0002023
7403	KDM6A	Malabsorption	HP:0002024
7403	KDM6A	Anal stenosis	HP:0002025
7403	KDM6A	Obesity	HP:0001513
7403	KDM6A	Hydrocephalus	HP:0000238
7403	KDM6A	Hirsutism	HP:0001007
7403	KDM6A	Global developmental delay	HP:0001263
7403	KDM6A	Butterfly vertebrae	HP:0003316
7403	KDM6A	Highly arched eyebrow	HP:0002553
7403	KDM6A	Microcephaly	HP:0000252
7403	KDM6A	Ptosis	HP:0000508
728294	D2HGDH	Macrocephaly	HP:0000256
728294	D2HGDH	Infantile encephalopathy	HP:0007105
728294	D2HGDH	Intellectual disability	HP:0001249
728294	D2HGDH	D-2-hydroxyglutaric aciduria	HP:0012321
728294	D2HGDH	Seizures	HP:0001250
728294	D2HGDH	Muscular hypotonia	HP:0001252
728294	D2HGDH	Inspiratory stridor	HP:0005348
728294	D2HGDH	Cardiomyopathy	HP:0001638
728294	D2HGDH	Autosomal recessive inheritance	HP:0000007
728294	D2HGDH	Generalized hypotonia	HP:0001290
728294	D2HGDH	Multifocal cerebral white matter abnormalities	HP:0007052
728294	D2HGDH	Delayed CNS myelination	HP:0002188
728294	D2HGDH	Dilation of lateral ventricles	HP:0006956
728294	D2HGDH	Muscle weakness	HP:0001324
728294	D2HGDH	Episodic vomiting	HP:0002572
728294	D2HGDH	Glutaric aciduria	HP:0003150
728294	D2HGDH	Global developmental delay	HP:0001263
728294	D2HGDH	Subependymal cysts	HP:0002416
728294	D2HGDH	Prominent forehead	HP:0011220
728294	D2HGDH	Frontal bossing	HP:0002007
728294	D2HGDH	Apnea	HP:0002104
728294	D2HGDH	Aortic regurgitation	HP:0001659
728294	D2HGDH	Micrognathia	HP:0000347
7407	VARS	Depressed nasal bridge	HP:0005280
7407	VARS	Myopia	HP:0000545
7407	VARS	Seizures	HP:0001250
7407	VARS	Astigmatism	HP:0000483
7407	VARS	Cerebral cortical atrophy	HP:0002120
7407	VARS	Infantile onset	HP:0003593
7407	VARS	Intellectual disability, profound	HP:0002187
7407	VARS	Small anterior fontanelle	HP:0000237
7407	VARS	Global developmental delay	HP:0001263
7407	VARS	Long eyelashes	HP:0000527
7407	VARS	Sloping forehead	HP:0000340
7407	VARS	Cerebellar atrophy	HP:0001272
7407	VARS	Micrognathia	HP:0000347
7407	VARS	Short nose	HP:0003196
7407	VARS	Progressive	HP:0003676
7407	VARS	Progressive microcephaly	HP:0000253
7407	VARS	Hypoplasia of the corpus callosum	HP:0002079
7414	VCL	EMG abnormality	HP:0003457
7414	VCL	Congestive heart failure	HP:0001635
7414	VCL	Lipoatrophy	HP:0100578
7414	VCL	Elevated serum creatine kinase	HP:0003236
7414	VCL	Autosomal dominant inheritance	HP:0000006
7414	VCL	Hypertrophic cardiomyopathy	HP:0001639
7414	VCL	Dilated cardiomyopathy	HP:0001644
7414	VCL	Dyspnea	HP:0002094
7414	VCL	Abnormality of neutrophils	HP:0001874
7414	VCL	Palmoplantar keratoderma	HP:0000982
7414	VCL	Sensorineural hearing impairment	HP:0000407
7414	VCL	Endocardial fibrosis	HP:0006685
7414	VCL	Myopathy	HP:0003198
7415	VCP	Frontal cortical atrophy	HP:0006913
7415	VCP	Bulbar palsy	HP:0001283
7415	VCP	Fatty replacement of skeletal muscle	HP:0012548
7415	VCP	Collectionism	HP:0030212
7415	VCP	Areflexia	HP:0001284
7415	VCP	Emotional blunting	HP:0030213
7415	VCP	Autosomal dominant inheritance	HP:0000006
7415	VCP	Cataract	HP:0000518
7415	VCP	Gait disturbance	HP:0001288
7415	VCP	Degeneration of the lateral corticospinal tracts	HP:0002314
7415	VCP	Arthralgia	HP:0002829
7415	VCP	Cranial nerve compression	HP:0001293
7415	VCP	Perseveration	HP:0030223
7415	VCP	Spastic gait	HP:0002064
7415	VCP	Necrotizing myopathy	HP:0008978
7415	VCP	Parkinsonism	HP:0001300
7415	VCP	Urinary incontinence	HP:0000020
7415	VCP	Generalized tonic-clonic seizures	HP:0002069
7415	VCP	Neuronal loss in the cerebral cortex	HP:0007190
7415	VCP	Abnormality of extrapyramidal motor function	HP:0002071
7415	VCP	Urinary bladder sphincter dysfunction	HP:0002839
7415	VCP	Progressive cerebellar ataxia	HP:0002073
7415	VCP	Dyslexia	HP:0010522
7415	VCP	Alexia	HP:0010523
7415	VCP	Pelvic girdle muscle atrophy	HP:0008988
7415	VCP	Tongue fasciculations	HP:0001308
7415	VCP	Dysgraphia	HP:0010526
7415	VCP	Echolalia	HP:0010529
7415	VCP	Progressive neurologic deterioration	HP:0002344
7415	VCP	Muscle weakness	HP:0001324
7415	VCP	Weakness of the intrinsic hand muscles	HP:0009005
7415	VCP	Dyspnea	HP:0002094
7415	VCP	Bowel incontinence	HP:0002607
7415	VCP	Memory impairment	HP:0002354
7415	VCP	Abnormality of long bone morphology	HP:0011314
7415	VCP	Difficulty walking	HP:0002355
7415	VCP	Ubiquitin-positive cerebral inclusion bodies	HP:0012083
7415	VCP	Dystonia	HP:0001332
7415	VCP	Dysphasia	HP:0002357
7415	VCP	Frequent falls	HP:0002359
7415	VCP	Tremor	HP:0001337
7415	VCP	Sensory axonal neuropathy	HP:0003390
7415	VCP	Abnormal lower motor neuron morphology	HP:0002366
7415	VCP	Respiratory failure	HP:0002878
7415	VCP	Grammar-specific speech disorder	HP:0006977
7415	VCP	Muscle spasm	HP:0003394
7415	VCP	Foot dorsiflexor weakness	HP:0009027
7415	VCP	Loss of speech	HP:0002371
7415	VCP	Hyperreflexia	HP:0001347
7415	VCP	Facial diplegia	HP:0001349
7415	VCP	Fasciculations	HP:0002380
7415	VCP	Aphasia	HP:0002381
7415	VCP	Abnormal upper motor neuron morphology	HP:0002127
7415	VCP	Laryngospasm	HP:0025425
7415	VCP	Paraparesis	HP:0002385
7415	VCP	Elevated alkaline phosphatase	HP:0003155
7415	VCP	Abnormality of pelvic girdle bone morphology	HP:0002644
7415	VCP	Abnormality of calvarial morphology	HP:0002648
7415	VCP	Back pain	HP:0003418
7415	VCP	Motor axonal neuropathy	HP:0007002
7415	VCP	Fatigue	HP:0012378
7415	VCP	Lower limb hyperreflexia	HP:0002395
7415	VCP	Progressive	HP:0003676
7415	VCP	Gait imbalance	HP:0002141
7415	VCP	Supranuclear gaze palsy	HP:0000605
7415	VCP	Bone pain	HP:0002653
7415	VCP	Frontotemporal dementia	HP:0002145
7415	VCP	Poor fine motor coordination	HP:0007010
7415	VCP	Congestive heart failure	HP:0001635
7415	VCP	Cardiomyopathy	HP:0001638
7415	VCP	Limb muscle weakness	HP:0003690
7415	VCP	Scapular winging	HP:0003691
7415	VCP	Distal amyotrophy	HP:0003693
7415	VCP	Absent Achilles reflex	HP:0003438
7415	VCP	Abnormality of hand joint mobility	HP:0006256
7415	VCP	Abnormal brain FDG positron emission tomography	HP:0012658
7415	VCP	EMG: chronic denervation signs	HP:0003444
7415	VCP	Generalized amyotrophy	HP:0003700
7415	VCP	Proximal muscle weakness	HP:0003701
7415	VCP	Hepatic steatosis	HP:0001397
7415	VCP	EMG: neuropathic changes	HP:0003445
7415	VCP	Impaired vibration sensation in the lower limbs	HP:0002166
7415	VCP	Hip pain	HP:0030838
7415	VCP	Distal sensory impairment	HP:0002936
7415	VCP	Limb fasciculations	HP:0007289
7415	VCP	Lumbar hyperlordosis	HP:0002938
7415	VCP	Motor aphasia	HP:0002427
7415	VCP	Gliosis	HP:0002171
7415	VCP	Myopathy	HP:0003198
7415	VCP	Abulia	HP:0012671
7415	VCP	Skeletal muscle atrophy	HP:0003202
7415	VCP	EMG: myopathic abnormalities	HP:0003458
7415	VCP	Abnormal mitochondrial morphology	HP:0008322
7415	VCP	Facial palsy	HP:0010628
7415	VCP	Neurodegeneration	HP:0002180
7415	VCP	Dyscalculia	HP:0002442
7415	VCP	Calvarial hyperostosis	HP:0004490
7415	VCP	Apraxia	HP:0002186
7415	VCP	Shoulder girdle muscle atrophy	HP:0003724
7415	VCP	Astrocytosis	HP:0002446
7415	VCP	Paralysis	HP:0003470
7415	VCP	Elevated alkaline phosphatase of bone origin	HP:0010639
7415	VCP	Distal muscle weakness	HP:0002460
7415	VCP	Brain atrophy	HP:0012444
7415	VCP	Language impairment	HP:0002463
7415	VCP	Babinski sign	HP:0003487
7415	VCP	Poor speech	HP:0002465
7415	VCP	Senile plaques	HP:0100256
7415	VCP	Elevated serum creatine kinase	HP:0003236
7415	VCP	Pelvic girdle muscle weakness	HP:0003749
7415	VCP	Bilateral sensorineural hearing impairment	HP:0008619
7415	VCP	Spoken Word Recognition Deficit	HP:0030391
7415	VCP	Amyotrophic lateral sclerosis	HP:0007354
7415	VCP	Upper motor neuron dysfunction	HP:0002493
7415	VCP	Cough	HP:0012735
7415	VCP	Abnormal nerve conduction velocity	HP:0040129
7415	VCP	Behavioral abnormality	HP:0000708
7415	VCP	EEG with continuous slow activity	HP:0011204
7415	VCP	Abnormality of the cerebral white matter	HP:0002500
7415	VCP	Pathologic fracture	HP:0002756
7415	VCP	Psychosis	HP:0000709
7415	VCP	Recurrent fractures	HP:0002757
7415	VCP	Hyperorality	HP:0000710
7415	VCP	Restlessness	HP:0000711
7415	VCP	Temporal cortical atrophy	HP:0007112
7415	VCP	Emotional lability	HP:0000712
7415	VCP	Agitation	HP:0000713
7415	VCP	Depressivity	HP:0000716
7415	VCP	Aggressive behavior	HP:0000718
7415	VCP	Inappropriate behavior	HP:0000719
7415	VCP	Restrictive behavior	HP:0000723
7415	VCP	Waddling gait	HP:0002515
7415	VCP	Increased spinal bone density	HP:0004563
7415	VCP	Dementia	HP:0000726
7415	VCP	Xerostomia	HP:0000217
7415	VCP	Thickened nuchal skin fold	HP:0000474
7415	VCP	Shoulder girdle muscle weakness	HP:0003547
7415	VCP	Rimmed vacuoles	HP:0003805
7415	VCP	Stereotypy	HP:0000733
7415	VCP	Disinhibition	HP:0000734
7415	VCP	Difficulty climbing stairs	HP:0003551
7415	VCP	Dysphagia	HP:0002015
7415	VCP	Pes cavus	HP:0001761
7415	VCP	Irritability	HP:0000737
7415	VCP	Intellectual disability	HP:0001249
7415	VCP	Nausea and vomiting	HP:0002017
7415	VCP	Tetraparesis	HP:0002273
7415	VCP	Short stature	HP:0004322
7415	VCP	Hallucinations	HP:0000738
7415	VCP	Anxiety	HP:0000739
7415	VCP	Hammertoe	HP:0001765
7415	VCP	Apathy	HP:0000741
7415	VCP	Increased variability in muscle fiber diameter	HP:0003557
7415	VCP	Reduced vital capacity	HP:0002792
7415	VCP	Spasticity	HP:0001257
7415	VCP	Spastic paraplegia	HP:0001258
7415	VCP	Hyperlordosis	HP:0003307
7415	VCP	Global brain atrophy	HP:0002283
7415	VCP	Dysarthria	HP:0001260
7415	VCP	Frontotemporal cerebral atrophy	HP:0006892
7415	VCP	Osteolysis	HP:0002797
7415	VCP	Personality changes	HP:0000751
7415	VCP	Hyporeflexia	HP:0001265
7415	VCP	Pelvic girdle amyotrophy	HP:0008946
7415	VCP	Fatigable weakness of swallowing muscles	HP:0030195
7415	VCP	Pain	HP:0012531
7415	VCP	Mildly elevated creatine kinase	HP:0008180
7415	VCP	Variable expressivity	HP:0003828
7415	VCP	Fatigable weakness of respiratory muscles	HP:0030196
7415	VCP	Lack of insight	HP:0000757
7415	VCP	Decreased nerve conduction velocity	HP:0000762
7415	VCP	Intrinsic hand muscle atrophy	HP:0008954
7415	VCP	Weakness of muscles of respiration	HP:0004347
7415	VCP	Mutism	HP:0002300
7415	VCP	Generalized muscle weakness	HP:0003324
7415	VCP	Ptosis	HP:0000508
7415	VCP	Myalgia	HP:0003326
7421	VDR	Protuberant abdomen	HP:0001538
7421	VDR	Autosomal dominant inheritance	HP:0000006
7421	VDR	Fibular bowing	HP:0010502
7421	VDR	Autosomal recessive inheritance	HP:0000007
7421	VDR	Gait disturbance	HP:0001288
7421	VDR	Infantile onset	HP:0003593
7421	VDR	Generalized hypotonia	HP:0001290
7421	VDR	Dolichocephaly	HP:0000268
7421	VDR	Widely patent fontanelles and sutures	HP:0004492
7421	VDR	Nephrolithiasis	HP:0000787
7421	VDR	Hypocalcemic seizures	HP:0002199
7421	VDR	Hypoplasia of dental enamel	HP:0006297
7421	VDR	Genu varum	HP:0002970
7421	VDR	Bone cyst	HP:0012062
7421	VDR	Carious teeth	HP:0000670
7421	VDR	Subperiosteal bone resorption	HP:0003106
7421	VDR	Bowing of the legs	HP:0002979
7421	VDR	Abnormal adipose tissue morphology	HP:0009124
7421	VDR	Femoral bowing	HP:0002980
7421	VDR	Tibial bowing	HP:0002982
7421	VDR	Genu valgum	HP:0002857
7421	VDR	Osteoporosis	HP:0000939
7421	VDR	Delayed eruption of teeth	HP:0000684
7421	VDR	Abnormality of the metaphysis	HP:0000944
7421	VDR	Premature loss of primary teeth	HP:0006323
7421	VDR	Difficulty walking	HP:0002355
7421	VDR	Abnormality of the skin	HP:0000951
7421	VDR	Alopecia	HP:0001596
7421	VDR	Rickets	HP:0002748
7421	VDR	Osteomalacia	HP:0002749
7421	VDR	Rough bone trabeculation	HP:0100670
7421	VDR	Abdominal wall muscle weakness	HP:0009023
7421	VDR	Sparse bone trabeculae	HP:0002752
7421	VDR	Thin bony cortex	HP:0002753
7421	VDR	Recurrent fractures	HP:0002757
7421	VDR	Bulging epiphyses	HP:0003013
7421	VDR	Abnormality of the hip bone	HP:0003272
7421	VDR	Hyperparathyroidism	HP:0000843
7421	VDR	Enlargement of the wrists	HP:0003020
7421	VDR	Increased serum 1,25-dihydroxyvitamin D3	HP:0003152
7421	VDR	Metaphyseal irregularity	HP:0003025
7421	VDR	Elevated alkaline phosphatase	HP:0003155
7421	VDR	Hypocalcemia	HP:0002901
7421	VDR	Enlargement of the ankles	HP:0003029
7421	VDR	Frontal bossing	HP:0002007
7421	VDR	Scoliosis	HP:0002650
7421	VDR	Joint dislocation	HP:0001373
7421	VDR	Bone pain	HP:0002653
7421	VDR	Elevated circulating parathyroid hormone level	HP:0003165
7421	VDR	Flat occiput	HP:0005469
7421	VDR	Irritability	HP:0000737
7421	VDR	Short stature	HP:0004322
7421	VDR	Secondary hyperparathyroidism	HP:0000867
7421	VDR	Hypophosphatemia	HP:0002148
7421	VDR	Muscular hypotonia	HP:0001252
7421	VDR	Failure to thrive	HP:0001508
7421	VDR	Growth delay	HP:0001510
7421	VDR	Delayed epiphyseal ossification	HP:0002663
7421	VDR	Osteolysis	HP:0002797
7421	VDR	Abnormal form of the vertebral bodies	HP:0003312
7421	VDR	Alopecia universalis	HP:0002289
7421	VDR	Difficulty standing	HP:0003698
7421	VDR	Motor delay	HP:0001270
7421	VDR	Deformed rib cage	HP:0000886
7421	VDR	Abnormality of the thorax	HP:0000765
7421	VDR	Bulging of the costochondral junction	HP:0000893
7424	VEGFC	Hydrocele testis	HP:0000034
7424	VEGFC	Hyperkeratosis	HP:0000962
7424	VEGFC	Cellulitis	HP:0100658
7424	VEGFC	Variable expressivity	HP:0003828
7424	VEGFC	Autosomal dominant inheritance	HP:0000006
7424	VEGFC	Toenail dysplasia	HP:0100797
7424	VEGFC	Lymphedema	HP:0001004
154881	KCTD7	Febrile seizures	HP:0002373
154881	KCTD7	Autosomal recessive inheritance	HP:0000007
154881	KCTD7	Developmental regression	HP:0002376
154881	KCTD7	Optic atrophy	HP:0000648
154881	KCTD7	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	HP:0003208
154881	KCTD7	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
154881	KCTD7	Cerebral atrophy	HP:0002059
154881	KCTD7	Generalized myoclonic seizures	HP:0002123
154881	KCTD7	Generalized tonic-clonic seizures	HP:0002069
154881	KCTD7	Dementia	HP:0000726
154881	KCTD7	Progressive cerebellar ataxia	HP:0002073
154881	KCTD7	Limb myoclonus	HP:0045084
154881	KCTD7	Progressive	HP:0003676
154881	KCTD7	Focal myoclonic seizures	HP:0011166
154881	KCTD7	Truncal ataxia	HP:0002078
154881	KCTD7	Hypoplasia of the corpus callosum	HP:0002079
154881	KCTD7	Intellectual disability	HP:0001249
154881	KCTD7	Progressive psychomotor deterioration	HP:0007272
154881	KCTD7	Dysarthria	HP:0001260
154881	KCTD7	Chin myoclonus	HP:0012462
154881	KCTD7	Photomyoclonic seizures	HP:0001327
154881	KCTD7	Focal EEG discharges with secondary generalization	HP:0011188
154881	KCTD7	Progressive truncal ataxia	HP:0007221
154881	KCTD7	Cerebellar atrophy	HP:0001272
154881	KCTD7	Abnormality of vision	HP:0000504
154881	KCTD7	Microcephaly	HP:0000252
154881	KCTD7	Visual loss	HP:0000572
7428	VHL	Hypercalcemia	HP:0003072
7428	VHL	Multicystic kidney dysplasia	HP:0000003
7428	VHL	Hemangioma	HP:0001028
7428	VHL	Autosomal dominant inheritance	HP:0000006
7428	VHL	Cataract	HP:0000518
7428	VHL	Developmental cataract	HP:0000519
7428	VHL	Autosomal recessive inheritance	HP:0000007
7428	VHL	Gait disturbance	HP:0001288
7428	VHL	Headache	HP:0002315
7428	VHL	Cranial nerve compression	HP:0001293
7428	VHL	Aniridia	HP:0000526
7428	VHL	Episodic abdominal pain	HP:0002574
7428	VHL	Vertigo	HP:0002321
7428	VHL	Elevated urinary norepinephrine	HP:0003345
7428	VHL	Stroke	HP:0001297
7428	VHL	Hemiplegia/hemiparesis	HP:0004374
7428	VHL	Hematuria	HP:0000790
7428	VHL	Plethora	HP:0001050
7428	VHL	Recurrent paroxysmal headache	HP:0002331
7428	VHL	Migraine	HP:0002076
7428	VHL	Retinal detachment	HP:0000541
7428	VHL	Weight loss	HP:0001824
7428	VHL	Paroxysmal vertigo	HP:0010532
7428	VHL	Episodic hyperhidrosis	HP:0001069
7428	VHL	Paraganglioma of head and neck	HP:0002864
7428	VHL	Abnormality of the cerebral vasculature	HP:0100659
7428	VHL	Flushing	HP:0031284
7428	VHL	Hypertension	HP:0000822
7428	VHL	Hypotension	HP:0002615
7428	VHL	Elevated urinary epinephrine	HP:0003639
7428	VHL	Tremor	HP:0001337
7428	VHL	Varicose veins	HP:0002619
7428	VHL	Visual loss	HP:0000572
7428	VHL	Cerebral hemorrhage	HP:0001342
7428	VHL	Pulmonary capillary hemangiomatosis	HP:0005954
7428	VHL	Vocal cord paralysis	HP:0001605
7428	VHL	Hypertensive retinopathy	HP:0001095
7428	VHL	Neoplasm of the pancreas	HP:0002894
7428	VHL	Peripheral thrombosis	HP:0002641
7428	VHL	Extraadrenal pheochromocytoma	HP:0006737
7428	VHL	Dysphonia	HP:0001618
7428	VHL	Fatigue	HP:0012378
7428	VHL	Adrenal pheochromocytoma	HP:0006748
7428	VHL	Proteinuria	HP:0000093
7428	VHL	Glomerulosclerosis	HP:0000096
7428	VHL	Congestive heart failure	HP:0001635
7428	VHL	Tinnitus	HP:0000360
7428	VHL	Neoplasm	HP:0002664
7428	VHL	Pheochromocytoma	HP:0002666
7428	VHL	Increased red blood cell mass	HP:0001898
7428	VHL	Episodic hypertension	HP:0000875
7428	VHL	Increased hematocrit	HP:0001899
7428	VHL	Paraganglioma	HP:0002668
7428	VHL	Increased hemoglobin	HP:0001900
7428	VHL	Polycythemia	HP:0001901
7428	VHL	Abnormal retinal vascular morphology	HP:0008046
7428	VHL	Abnormality of the liver	HP:0001392
7428	VHL	Tachycardia	HP:0001649
7428	VHL	Polycystic kidney dysplasia	HP:0000113
7428	VHL	Neurological speech impairment	HP:0002167
7428	VHL	Nystagmus	HP:0000639
7428	VHL	Renal artery stenosis	HP:0001920
7428	VHL	Chest pain	HP:0100749
7428	VHL	Conductive hearing impairment	HP:0000405
7428	VHL	Sensorineural hearing impairment	HP:0000407
7428	VHL	Visceral angiomatosis	HP:0100761
7428	VHL	Abnormality of the lymphatic system	HP:0100763
7428	VHL	Arrhythmia	HP:0011675
7428	VHL	Sporadic	HP:0003745
7428	VHL	Palpitations	HP:0001962
7428	VHL	Panic attack	HP:0025269
7428	VHL	Pulsatile tinnitus	HP:0008629
7428	VHL	Sinus tachycardia	HP:0011703
7428	VHL	Multiple renal cysts	HP:0005562
7428	VHL	Capillary hemangioma	HP:0005306
7428	VHL	Arteriovenous malformation	HP:0100026
7428	VHL	Cafe-au-lait spot	HP:0000957
7428	VHL	Neoplasm of the middle ear	HP:0100799
7428	VHL	Arachnoid hemangiomatosis	HP:0012222
7428	VHL	Aplasia/Hypoplasia of the cerebellum	HP:0007360
7428	VHL	Elevated calcitonin	HP:0003528
7428	VHL	Pancreatic cysts	HP:0001737
7428	VHL	Elevated urinary dopamine	HP:0011979
7428	VHL	Hyperhidrosis	HP:0000975
7428	VHL	Renal cell carcinoma	HP:0005584
7428	VHL	Increased intracranial pressure	HP:0002516
7428	VHL	Pallor	HP:0000980
7428	VHL	Epididymal cyst	HP:0030424
7428	VHL	Cerebellar hemangioblastoma	HP:0006880
7428	VHL	Nausea and vomiting	HP:0002017
7428	VHL	Nausea	HP:0002018
7428	VHL	Ataxia	HP:0001251
7428	VHL	Episodic paroxysmal anxiety	HP:0000740
7428	VHL	Telangiectasia of the skin	HP:0100585
7428	VHL	Hydrocephalus	HP:0000238
7428	VHL	Retinal capillary hemangioma	HP:0009711
7428	VHL	Spinal hemangioblastoma	HP:0009713
7428	VHL	Papillary cystadenoma of the epididymis	HP:0009715
7428	VHL	Glaucoma	HP:0000501
7428	VHL	Positive regitine blocking test	HP:0003574
7428	VHL	Sensory neuropathy	HP:0000763
7431	VIM	Pulverulent cataract	HP:0010693
7431	VIM	Autosomal dominant inheritance	HP:0000006
7431	VIM	Diffuse nuclear cataract	HP:0007657
7431	VIM	Congenital onset	HP:0003577
7431	VIM	Posterior polar cataract	HP:0001115
64780	MICAL1	Focal impaired awareness seizure	HP:0002384
64780	MICAL1	Incomplete penetrance	HP:0003829
64780	MICAL1	Autosomal dominant inheritance	HP:0000006
64780	MICAL1	Generalized tonic-clonic seizures with focal onset	HP:0007334
64780	MICAL1	Focal sensory auditory seizure	HP:0011158
64780	MICAL1	Focal aware seizure	HP:0002349
7436	VLDLR	Gaze-evoked nystagmus	HP:0000640
7436	VLDLR	Skeletal muscle atrophy	HP:0003202
7436	VLDLR	Hyperreflexia	HP:0001347
7436	VLDLR	Cataract	HP:0000518
7436	VLDLR	Autosomal recessive inheritance	HP:0000007
7436	VLDLR	Gait disturbance	HP:0001288
7436	VLDLR	Generalized hypotonia	HP:0001290
7436	VLDLR	Psychomotor retardation	HP:0025356
7436	VLDLR	Gait ataxia	HP:0002066
7436	VLDLR	Abnormality of metabolism/homeostasis	HP:0001939
7436	VLDLR	Pachygyria	HP:0001302
7436	VLDLR	Simplified gyral pattern	HP:0009879
7436	VLDLR	Broad-based gait	HP:0002136
7436	VLDLR	Dysdiadochokinesis	HP:0002075
7436	VLDLR	Dysmetria	HP:0001310
7436	VLDLR	Truncal ataxia	HP:0002078
7436	VLDLR	Nonprogressive	HP:0003680
7436	VLDLR	Intention tremor	HP:0002080
7436	VLDLR	Intellectual disability	HP:0001249
7436	VLDLR	Poor speech	HP:0002465
7436	VLDLR	Short stature	HP:0004322
7436	VLDLR	Seizures	HP:0001250
7436	VLDLR	Ataxia	HP:0001251
7436	VLDLR	Pes planus	HP:0001763
7436	VLDLR	Muscular hypotonia	HP:0001252
7436	VLDLR	Strabismus	HP:0000486
7436	VLDLR	Cerebellar hypoplasia	HP:0001321
7436	VLDLR	Dysarthria	HP:0001260
7436	VLDLR	Delayed speech and language development	HP:0000750
7436	VLDLR	Global developmental delay	HP:0001263
7436	VLDLR	Cerebral palsy	HP:0100021
7436	VLDLR	Abnormality of vision	HP:0000504
7436	VLDLR	Cerebellar atrophy	HP:0001272
7436	VLDLR	Congenital onset	HP:0003577
7436	VLDLR	Hypoplasia of the brainstem	HP:0002365
7439	BEST1	Abnormal electroretinogram	HP:0000512
7439	BEST1	Autosomal dominant inheritance	HP:0000006
7439	BEST1	Cataract	HP:0000518
7439	BEST1	Autosomal recessive inheritance	HP:0000007
7439	BEST1	Hypogonadism	HP:0000135
7439	BEST1	Posterior staphyloma	HP:0030856
7439	BEST1	Optic atrophy	HP:0000648
7439	BEST1	Retinal flecks	HP:0012045
7439	BEST1	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
7439	BEST1	Conductive hearing impairment	HP:0000405
7439	BEST1	Nyctalopia	HP:0000662
7439	BEST1	Sensorineural hearing impairment	HP:0000407
7439	BEST1	Abnormality of retinal pigmentation	HP:0007703
7439	BEST1	Hypermetropia	HP:0000540
7439	BEST1	Retinal detachment	HP:0000541
7439	BEST1	Optic disc pallor	HP:0000543
7439	BEST1	Hypoplasia of penis	HP:0008736
7439	BEST1	Attenuation of retinal blood vessels	HP:0007843
7439	BEST1	Abnormal testis morphology	HP:0000035
7439	BEST1	Subretinal fluid	HP:0031526
7439	BEST1	Color vision defect	HP:0000551
7439	BEST1	Retinal pigment epithelial atrophy	HP:0007722
7439	BEST1	Wide nasal bridge	HP:0000431
7439	BEST1	Retinal arteriolar occlusion	HP:0007985
7439	BEST1	Iris hypopigmentation	HP:0007730
7439	BEST1	Keratoconus	HP:0000563
7439	BEST1	Microphthalmia	HP:0000568
7439	BEST1	Hyperreflexia	HP:0001347
7439	BEST1	Pigmentary retinopathy	HP:0000580
7439	BEST1	Pulverulent cataract	HP:0010693
7439	BEST1	Retinal neovascularization	HP:0030666
7439	BEST1	Hyperinsulinemia	HP:0000842
7439	BEST1	Macular dystrophy	HP:0007754
7439	BEST1	Anteverted nares	HP:0000463
7439	BEST1	Dyschromatopsia	HP:0007641
7439	BEST1	Ophthalmoplegia	HP:0000602
7439	BEST1	Type II diabetes mellitus	HP:0005978
7439	BEST1	Atypical scarring of skin	HP:0000987
7439	BEST1	Retinal nonattachment	HP:0007899
7439	BEST1	Cystoid macular degeneration	HP:0008028
7439	BEST1	Metamorphopsia	HP:0012508
7439	BEST1	Vitreous hemorrhage	HP:0007902
7439	BEST1	Intellectual disability	HP:0001249
7439	BEST1	Microcornea	HP:0000482
7439	BEST1	Visual field defect	HP:0001123
7439	BEST1	Photophobia	HP:0000613
7439	BEST1	Strabismus	HP:0000486
7439	BEST1	Obesity	HP:0001513
7439	BEST1	Blindness	HP:0000618
7439	BEST1	Retinal arteriolar constriction	HP:0008043
7439	BEST1	Abnormality of chorioretinal pigmentation	HP:0007661
7439	BEST1	Abnormal retinal vascular morphology	HP:0008046
7439	BEST1	Reduced visual acuity	HP:0007663
7439	BEST1	Choroideremia	HP:0001139
7439	BEST1	Glaucoma	HP:0000501
7439	BEST1	Visual impairment	HP:0000505
7439	BEST1	Progressive night blindness	HP:0007675
7439	BEST1	Vitelliform-like macular lesions	HP:0007677
7439	BEST1	Rod-cone dystrophy	HP:0000510
7439	BEST1	Nystagmus	HP:0000639
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	Ataxia	HP:0001251
7443	VRK1	Hyperreflexia	HP:0001347
7443	VRK1	Muscular hypotonia	HP:0001252
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	Muscle weakness	HP:0001324
7443	VRK1	Fasciculations	HP:0002380
7443	VRK1	Psychomotor retardation	HP:0025356
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
64788	LMF1	Nausea and vomiting	HP:0002017
64788	LMF1	Failure to thrive	HP:0001508
64788	LMF1	Acute pancreatitis	HP:0001735
64788	LMF1	Autosomal recessive inheritance	HP:0000007
64788	LMF1	Hypertriglyceridemia	HP:0002155
64788	LMF1	Depressivity	HP:0000716
64788	LMF1	Increased circulating chylomicron concentration	HP:0012238
64788	LMF1	Episodic abdominal pain	HP:0002574
64788	LMF1	Abnormal emotion/affect behavior	HP:0100851
64788	LMF1	Memory impairment	HP:0002354
64788	LMF1	Diabetes mellitus	HP:0000819
64788	LMF1	Abnormality of metabolism/homeostasis	HP:0001939
64788	LMF1	Lipemia retinalis	HP:0000660
64788	LMF1	Eruptive xanthomas	HP:0001013
64788	LMF1	Hepatic steatosis	HP:0001397
64788	LMF1	Dementia	HP:0000726
64788	LMF1	Jaundice	HP:0000952
64788	LMF1	Hepatosplenomegaly	HP:0001433
64788	LMF1	Recurrent pancreatitis	HP:0100027
64788	LMF1	Pulmonary embolism	HP:0002204
64788	LMF1	Perianal abscess	HP:0009789
7450	VWF	Mitral valve prolapse	HP:0001634
7450	VWF	Prolonged bleeding time	HP:0003010
7450	VWF	Menorrhagia	HP:0000132
7450	VWF	Epistaxis	HP:0000421
7450	VWF	Autosomal dominant inheritance	HP:0000006
7450	VWF	Prolonged whole-blood clotting time	HP:0005542
7450	VWF	Autosomal recessive inheritance	HP:0000007
7450	VWF	Reduced von Willebrand factor activity	HP:0008330
7450	VWF	Joint hemorrhage	HP:0005261
7450	VWF	Persistent bleeding after trauma	HP:0001934
7450	VWF	Prolonged bleeding after surgery	HP:0004846
7450	VWF	Thrombocytopenia	HP:0001873
7450	VWF	Bruising susceptibility	HP:0000978
7450	VWF	Aortic valve stenosis	HP:0001650
7450	VWF	Impaired platelet aggregation	HP:0003540
7450	VWF	Variable expressivity	HP:0003828
7450	VWF	Reduced factor VIII activity	HP:0003125
7450	VWF	Incomplete penetrance	HP:0003829
7450	VWF	Abnormality of the genitourinary system	HP:0000119
7450	VWF	Gastrointestinal angiodysplasia	HP:0000471
7450	VWF	Gastrointestinal hemorrhage	HP:0002239
56603	CYP26B1	Humeroradial synostosis	HP:0003041
56603	CYP26B1	Craniosynostosis	HP:0001363
56603	CYP26B1	Oligodactyly	HP:0012165
56603	CYP26B1	Occipital encephalocele	HP:0002085
56603	CYP26B1	Autosomal recessive inheritance	HP:0000007
56603	CYP26B1	Brachycephaly	HP:0000248
56603	CYP26B1	Arachnodactyly	HP:0001166
7454	WAS	Urticaria	HP:0001025
7454	WAS	Otitis media	HP:0000388
7454	WAS	Chronic otitis media	HP:0000389
7454	WAS	Meningitis	HP:0001287
7454	WAS	Recurrent intrapulmonary hemorrhage	HP:0006535
7454	WAS	Hypoplasia of the thymus	HP:0000778
7454	WAS	X-linked recessive inheritance	HP:0001419
7454	WAS	Increased circulating total IgE level	HP:0003212
7454	WAS	Chest pain	HP:0100749
7454	WAS	Abnormality of the menstrual cycle	HP:0000140
7454	WAS	Joint hemorrhage	HP:0005261
7454	WAS	Hematochezia	HP:0002573
7454	WAS	Microcytic anemia	HP:0001935
7454	WAS	Autoimmunity	HP:0002960
7454	WAS	Abnormal delayed hypersensitivity skin test	HP:0002963
7454	WAS	Monocytopenia	HP:0012312
7454	WAS	Fever	HP:0001945
7454	WAS	Absent microvilli on the surface of peripheral blood lymphocytes	HP:0002971
7454	WAS	Recurrent respiratory infections	HP:0002205
7454	WAS	Recurrent bacterial infections	HP:0002718
7454	WAS	Specific anti-polysaccharide antibody deficiency	HP:0002848
7454	WAS	Decreased mean platelet volume	HP:0005537
7454	WAS	Immunodeficiency	HP:0002721
7454	WAS	Decreased circulating total IgM	HP:0002850
7454	WAS	Epistaxis	HP:0000421
7454	WAS	Hyperostosis	HP:0100774
7454	WAS	Small vessel vasculitis	HP:0011944
7454	WAS	Pneumonia	HP:0002090
7454	WAS	Dyspnea	HP:0002094
7454	WAS	Specific learning disability	HP:0001328
7454	WAS	Chronic leukemia	HP:0005558
7454	WAS	Abnormality of the skin	HP:0000951
7454	WAS	Acute leukemia	HP:0002488
7454	WAS	Increased circulating IgA level	HP:0003261
7454	WAS	Large vessel vasculitis	HP:0005310
7454	WAS	Reduced lymphocyte surface expression of CD43	HP:0001983
7454	WAS	Prolonged bleeding time	HP:0003010
7454	WAS	Abnormality of the musculature	HP:0003011
7454	WAS	Eczema	HP:0000964
7454	WAS	Petechiae	HP:0000967
7454	WAS	Sepsis	HP:0100806
7454	WAS	Hematemesis	HP:0002248
7454	WAS	Melena	HP:0002249
7454	WAS	Vasculitis	HP:0002633
7454	WAS	Thrombocytopenia	HP:0001873
7454	WAS	Bruising susceptibility	HP:0000978
7454	WAS	Neutropenia	HP:0001875
7454	WAS	Glomerulopathy	HP:0100820
7454	WAS	Hemolytic anemia	HP:0001878
7454	WAS	Abnormal eosinophil morphology	HP:0001879
7454	WAS	Arthritis	HP:0001369
7454	WAS	Fatigue	HP:0012378
7454	WAS	Abnormal platelet function	HP:0011869
7454	WAS	Recurrent lower respiratory tract infections	HP:0002783
7454	WAS	Lymphopenia	HP:0001888
7454	WAS	Gingival bleeding	HP:0000225
7454	WAS	Iron deficiency anemia	HP:0001891
7454	WAS	Abnormal platelet morphology	HP:0011875
7454	WAS	Recurrent upper respiratory tract infections	HP:0002788
7454	WAS	Peripheral neuropathy	HP:0009830
7454	WAS	Skin ulcer	HP:0200042
7454	WAS	Lymphoma	HP:0002665
7454	WAS	Keratitis	HP:0000491
7454	WAS	Chronic diarrhea	HP:0002028
7454	WAS	Sudden cardiac death	HP:0001645
7454	WAS	Chronic obstructive pulmonary disease	HP:0006510
7454	WAS	Nephropathy	HP:0000112
7454	WAS	Congenital thrombocytopenia	HP:0001905
7454	WAS	Blepharitis	HP:0000498
7454	WAS	Inflammation of the large intestine	HP:0002037
7454	WAS	Sinusitis	HP:0000246
7454	WAS	Intermittent thrombocytopenia	HP:0004854
7454	WAS	Oral bleeding	HP:0040184
7454	WAS	Intracranial hemorrhage	HP:0002170
7454	WAS	Spontaneous hematomas	HP:0007420
7454	WAS	Conjunctivitis	HP:0000509
56606	SLC2A9	Hypouricemia	HP:0003537
56606	SLC2A9	Nephrolithiasis	HP:0000787
56606	SLC2A9	Autosomal dominant inheritance	HP:0000006
56606	SLC2A9	Autosomal recessive inheritance	HP:0000007
7456	WIPF1	Urticaria	HP:0001025
7456	WIPF1	Chronic otitis media	HP:0000389
7456	WIPF1	Autosomal recessive inheritance	HP:0000007
7456	WIPF1	Recurrent intrapulmonary hemorrhage	HP:0006535
7456	WIPF1	Meningitis	HP:0001287
7456	WIPF1	Hypoplasia of the thymus	HP:0000778
7456	WIPF1	Chest pain	HP:0100749
7456	WIPF1	Abnormality of the menstrual cycle	HP:0000140
7456	WIPF1	Hematochezia	HP:0002573
7456	WIPF1	Microcytic anemia	HP:0001935
7456	WIPF1	Autoimmunity	HP:0002960
7456	WIPF1	Reduced natural killer cell activity	HP:0012178
7456	WIPF1	Fever	HP:0001945
7456	WIPF1	Recurrent respiratory infections	HP:0002205
7456	WIPF1	Recurrent infections	HP:0002719
7456	WIPF1	Immunodeficiency	HP:0002721
7456	WIPF1	Epistaxis	HP:0000421
7456	WIPF1	Decreased proportion of CD8-positive T cells	HP:0005415
7456	WIPF1	Hyperostosis	HP:0100774
7456	WIPF1	Defective T cell proliferation	HP:0030253
7456	WIPF1	Dyspnea	HP:0002094
7456	WIPF1	Specific learning disability	HP:0001328
7456	WIPF1	Chronic leukemia	HP:0005558
7456	WIPF1	Acute leukemia	HP:0002488
7456	WIPF1	Prolonged bleeding time	HP:0003010
7456	WIPF1	Eczema	HP:0000964
7456	WIPF1	Sepsis	HP:0100806
7456	WIPF1	Petechiae	HP:0000967
7456	WIPF1	Hematemesis	HP:0002248
7456	WIPF1	Vasculitis	HP:0002633
7456	WIPF1	Thrombocytopenia	HP:0001873
7456	WIPF1	Bruising susceptibility	HP:0000978
7456	WIPF1	Neutropenia	HP:0001875
7456	WIPF1	Glomerulopathy	HP:0100820
7456	WIPF1	Hemolytic anemia	HP:0001878
7456	WIPF1	Abnormal eosinophil morphology	HP:0001879
7456	WIPF1	Arthritis	HP:0001369
7456	WIPF1	Fatigue	HP:0012378
7456	WIPF1	Abnormal platelet function	HP:0011869
7456	WIPF1	Lymphopenia	HP:0001888
7456	WIPF1	Gingival bleeding	HP:0000225
7456	WIPF1	Abnormal platelet morphology	HP:0011875
7456	WIPF1	Peripheral neuropathy	HP:0009830
7456	WIPF1	Skin ulcer	HP:0200042
7456	WIPF1	Lymphoma	HP:0002665
7456	WIPF1	Keratitis	HP:0000491
7456	WIPF1	Chronic diarrhea	HP:0002028
7456	WIPF1	Sudden cardiac death	HP:0001645
7456	WIPF1	Chronic obstructive pulmonary disease	HP:0006510
7456	WIPF1	Nephropathy	HP:0000112
7456	WIPF1	Blepharitis	HP:0000498
7456	WIPF1	Inflammation of the large intestine	HP:0002037
7456	WIPF1	Sinusitis	HP:0000246
7456	WIPF1	Intracranial hemorrhage	HP:0002170
7456	WIPF1	Spontaneous hematomas	HP:0007420
7456	WIPF1	Conjunctivitis	HP:0000509
64801	ARV1	Feeding difficulties	HP:0011968
64801	ARV1	Epileptic encephalopathy	HP:0200134
64801	ARV1	Autosomal recessive inheritance	HP:0000007
64801	ARV1	Optic atrophy	HP:0000648
64801	ARV1	Developmental regression	HP:0002376
64801	ARV1	Infantile onset	HP:0003593
64801	ARV1	Generalized hypotonia	HP:0001290
64801	ARV1	Cerebral atrophy	HP:0002059
64801	ARV1	Intellectual disability, profound	HP:0002187
64801	ARV1	Limb hypertonia	HP:0002509
64801	ARV1	Autism	HP:0000717
64801	ARV1	Unsteady gait	HP:0002317
64801	ARV1	Rigidity	HP:0002063
64801	ARV1	Encephalopathy	HP:0001298
64801	ARV1	Status epilepticus	HP:0002133
64801	ARV1	Decreased fetal movement	HP:0001558
64801	ARV1	Hypsarrhythmia	HP:0002521
64801	ARV1	High forehead	HP:0000348
64801	ARV1	EEG with multifocal slow activity	HP:0010844
64801	ARV1	Hypodontia	HP:0000668
64801	ARV1	Abnormal myelination	HP:0012447
64801	ARV1	Intellectual disability	HP:0001249
64801	ARV1	Short stature	HP:0004322
64801	ARV1	Retinal degeneration	HP:0000546
64801	ARV1	Ataxia	HP:0001251
64801	ARV1	Gastroesophageal reflux	HP:0002020
64801	ARV1	Failure to thrive	HP:0001508
64801	ARV1	Impulsivity	HP:0100710
64801	ARV1	Spasticity	HP:0001257
64801	ARV1	Attention deficit hyperactivity disorder	HP:0007018
64801	ARV1	Retinal dystrophy	HP:0000556
64801	ARV1	Downslanted palpebral fissures	HP:0000494
64801	ARV1	Delayed speech and language development	HP:0000750
64801	ARV1	Global developmental delay	HP:0001263
64801	ARV1	Hyporeflexia	HP:0001265
64801	ARV1	Difficulty walking	HP:0002355
64801	ARV1	Mental deterioration	HP:0001268
64801	ARV1	Dystonia	HP:0001332
64801	ARV1	Poor head control	HP:0002421
64801	ARV1	Dyskinesia	HP:0100660
64801	ARV1	Myoclonus	HP:0001336
64801	ARV1	Abnormality of vision	HP:0000504
64801	ARV1	Tremor	HP:0001337
64801	ARV1	Abnormal corpus callosum morphology	HP:0001273
64801	ARV1	Microcephaly	HP:0000252
64801	ARV1	Ptosis	HP:0000508
64801	ARV1	Hypertonia	HP:0001276
64801	ARV1	Nystagmus	HP:0000639
64802	NMNAT1	Abnormal electroretinogram	HP:0000512
64802	NMNAT1	Cataract	HP:0000518
64802	NMNAT1	Autosomal recessive inheritance	HP:0000007
64802	NMNAT1	Optic atrophy	HP:0000648
64802	NMNAT1	Nyctalopia	HP:0000662
64802	NMNAT1	Hemiplegia/hemiparesis	HP:0004374
64802	NMNAT1	Abnormality of retinal pigmentation	HP:0007703
64802	NMNAT1	Hypermetropia	HP:0000540
64802	NMNAT1	Macular coloboma	HP:0001116
64802	NMNAT1	Abnormality of neuronal migration	HP:0002269
64802	NMNAT1	Optic disc pallor	HP:0000543
64802	NMNAT1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
64802	NMNAT1	Intellectual disability	HP:0001249
64802	NMNAT1	Seizures	HP:0001250
64802	NMNAT1	Attenuation of retinal blood vessels	HP:0007843
64802	NMNAT1	Encephalocele	HP:0002084
64802	NMNAT1	Muscular hypotonia	HP:0001252
64802	NMNAT1	Photophobia	HP:0000613
64802	NMNAT1	Color vision defect	HP:0000551
64802	NMNAT1	Hearing impairment	HP:0000365
64802	NMNAT1	Global developmental delay	HP:0001263
64802	NMNAT1	Keratoconus	HP:0000563
64802	NMNAT1	Severely reduced visual acuity	HP:0001141
64802	NMNAT1	Visual impairment	HP:0000505
64802	NMNAT1	Abnormality of the optic disc	HP:0012795
64802	NMNAT1	Nystagmus	HP:0000639
7461	CLIP2	Hypercalcemia	HP:0003072
7461	CLIP2	Umbilical hernia	HP:0001537
7461	CLIP2	Arnold-Chiari malformation	HP:0002308
7461	CLIP2	Death in early adulthood	HP:0100613
7461	CLIP2	Cataract	HP:0000518
7461	CLIP2	Hypoplastic toenails	HP:0001800
7461	CLIP2	Recurrent urinary tract infections	HP:0000010
7461	CLIP2	Arthralgia	HP:0002829
7461	CLIP2	Bladder diverticulum	HP:0000015
7461	CLIP2	Tracheoesophageal fistula	HP:0002575
7461	CLIP2	Stroke	HP:0001297
7461	CLIP2	Nephrolithiasis	HP:0000787
7461	CLIP2	Narrow face	HP:0000275
7461	CLIP2	Corneal opacity	HP:0007957
7461	CLIP2	Inguinal hernia	HP:0000023
7461	CLIP2	Abnormality of extrapyramidal motor function	HP:0002071
7461	CLIP2	Coarse facial features	HP:0000280
7461	CLIP2	Functional abnormality of male internal genitalia	HP:0000025
7461	CLIP2	Nevus flammeus	HP:0001052
7461	CLIP2	Hyperacusis	HP:0010780
7461	CLIP2	Cryptorchidism	HP:0000028
7461	CLIP2	Supravalvular aortic stenosis	HP:0004381
7461	CLIP2	Hallux valgus	HP:0001822
7461	CLIP2	Dysgraphia	HP:0010526
7461	CLIP2	Epicanthus	HP:0000286
7461	CLIP2	Dysmetria	HP:0001310
7461	CLIP2	Hypoplasia of penis	HP:0008736
7461	CLIP2	Myopia	HP:0000545
7461	CLIP2	Flat cornea	HP:0007720
7461	CLIP2	Genu valgum	HP:0002857
7461	CLIP2	Hypogonadotrophic hypogonadism	HP:0000044
7461	CLIP2	Redundant skin	HP:0001582
7461	CLIP2	Peptic ulcer	HP:0004398
7461	CLIP2	Abnormal circulating lipid concentration	HP:0003119
7461	CLIP2	High hypermetropia	HP:0008499
7461	CLIP2	Pointed chin	HP:0000307
7461	CLIP2	Abnormal dermatoglyphics	HP:0007477
7461	CLIP2	Hypothyroidism	HP:0000821
7461	CLIP2	Open bite	HP:0010807
7461	CLIP2	Cholelithiasis	HP:0001081
7461	CLIP2	Tremor	HP:0001337
7461	CLIP2	Precocious puberty	HP:0000826
7461	CLIP2	Joint hyperflexibility	HP:0005692
7461	CLIP2	Overriding aorta	HP:0002623
7461	CLIP2	Hyperreflexia	HP:0001347
7461	CLIP2	Blepharophimosis	HP:0000581
7461	CLIP2	Prematurely aged appearance	HP:0007495
7461	CLIP2	Cerebral cortical atrophy	HP:0002120
7461	CLIP2	Developmental regression	HP:0002376
7461	CLIP2	Hoarse voice	HP:0001609
7461	CLIP2	Renal duplication	HP:0000075
7461	CLIP2	Vesicoureteral reflux	HP:0000076
7461	CLIP2	Elfin facies	HP:0004428
7461	CLIP2	Cerebral ischemia	HP:0002637
7461	CLIP2	Broad forehead	HP:0000337
7461	CLIP2	Nystagmus-induced head nodding	HP:0001361
7461	CLIP2	Dysphonia	HP:0001618
7461	CLIP2	Renal insufficiency	HP:0000083
7461	CLIP2	Abnormality of pelvic girdle bone morphology	HP:0002644
7461	CLIP2	Down-sloping shoulders	HP:0200021
7461	CLIP2	Long philtrum	HP:0000343
7461	CLIP2	Renal hypoplasia	HP:0000089
7461	CLIP2	Scoliosis	HP:0002650
7461	CLIP2	Type II diabetes mellitus	HP:0005978
7461	CLIP2	Micrognathia	HP:0000347
7461	CLIP2	High forehead	HP:0000348
7461	CLIP2	Gait imbalance	HP:0002141
7461	CLIP2	Ventricular septal defect	HP:0001629
7461	CLIP2	Proteinuria	HP:0000093
7461	CLIP2	Vertebral segmentation defect	HP:0003422
7461	CLIP2	Atrial septal defect	HP:0001631
7461	CLIP2	Mitral valve prolapse	HP:0001634
7461	CLIP2	Congestive heart failure	HP:0001635
7461	CLIP2	Tetralogy of Fallot	HP:0001636
7461	CLIP2	Hypercalciuria	HP:0002150
7461	CLIP2	Hypertrophic cardiomyopathy	HP:0001639
7461	CLIP2	Cardiomegaly	HP:0001640
7461	CLIP2	Peripheral pulmonary artery stenosis	HP:0004969
7461	CLIP2	Attention deficit hyperactivity disorder	HP:0007018
7461	CLIP2	Pulmonic stenosis	HP:0001642
7461	CLIP2	Patent ductus arteriosus	HP:0001643
7461	CLIP2	Joint stiffness	HP:0001387
7461	CLIP2	Joint laxity	HP:0001388
7461	CLIP2	Sudden cardiac death	HP:0001645
7461	CLIP2	Bicuspid aortic valve	HP:0001647
7461	CLIP2	Low-set, posteriorly rotated ears	HP:0000368
7461	CLIP2	Retinal arteriolar tortuosity	HP:0001136
7461	CLIP2	Clinodactyly of the 5th finger	HP:0004209
7461	CLIP2	Posterior embryotoxon	HP:0000627
7461	CLIP2	Mitral regurgitation	HP:0001653
7461	CLIP2	Aplasia/Hypoplasia of the iris	HP:0008053
7461	CLIP2	Lacrimation abnormality	HP:0000632
7461	CLIP2	Nephrocalcinosis	HP:0000121
7461	CLIP2	Myocardial infarction	HP:0001658
7461	CLIP2	Blue irides	HP:0000635
7461	CLIP2	Short nose	HP:0003196
7461	CLIP2	Pelvic kidney	HP:0000125
7461	CLIP2	Myopathy	HP:0003198
7461	CLIP2	Increased nuchal translucency	HP:0010880
7461	CLIP2	Chronic otitis media	HP:0000389
7461	CLIP2	Phonophobia	HP:0002183
7461	CLIP2	Macrotia	HP:0000400
7461	CLIP2	Polycystic ovaries	HP:0000147
7461	CLIP2	Sensorineural hearing impairment	HP:0000407
7461	CLIP2	Wide mouth	HP:0000154
7461	CLIP2	Protruding ear	HP:0000411
7461	CLIP2	Hypodontia	HP:0000668
7461	CLIP2	Adducted thumb	HP:0001181
7461	CLIP2	Recurrent respiratory infections	HP:0002205
7461	CLIP2	Macroglossia	HP:0000158
7461	CLIP2	Carious teeth	HP:0000670
7461	CLIP2	Radioulnar synostosis	HP:0002974
7461	CLIP2	Elevated serum creatine kinase	HP:0003236
7461	CLIP2	Abnormality of the diencephalon	HP:0010662
7461	CLIP2	Abnormality of dental enamel	HP:0000682
7461	CLIP2	Osteopenia	HP:0000938
7461	CLIP2	Osteoporosis	HP:0000939
7461	CLIP2	Hypoplasia of the zygomatic bone	HP:0010669
7461	CLIP2	Wide nasal bridge	HP:0000431
7461	CLIP2	Insomnia	HP:0100785
7461	CLIP2	Tubulointerstitial abnormality	HP:0001969
7461	CLIP2	Dental malocclusion	HP:0000689
7461	CLIP2	Microdontia	HP:0000691
7461	CLIP2	Thick lower lip vermilion	HP:0000179
7461	CLIP2	Patellar dislocation	HP:0002999
7461	CLIP2	Overfriendliness	HP:0100025
7461	CLIP2	Periorbital edema	HP:0100539
7461	CLIP2	Multiple renal cysts	HP:0005562
7461	CLIP2	Delayed skeletal maturation	HP:0002750
7461	CLIP2	Sacral dimple	HP:0000960
7461	CLIP2	Abnormality of the gastric mucosa	HP:0004295
7461	CLIP2	Atrophy/Degeneration involving the corticospinal tracts	HP:0007372
7461	CLIP2	Depressivity	HP:0000716
7461	CLIP2	Colonic diverticula	HP:0002253
7461	CLIP2	Autism	HP:0000717
7461	CLIP2	Abnormal fingernail morphology	HP:0001231
7461	CLIP2	Abnormality of the neck	HP:0000464
7461	CLIP2	Renovascular hypertension	HP:0100817
7461	CLIP2	Abnormal endocardium morphology	HP:0004306
7461	CLIP2	Obsessive-compulsive behavior	HP:0000722
7461	CLIP2	Gingival overgrowth	HP:0000212
7461	CLIP2	Abnormality of the ankles	HP:0003028
7461	CLIP2	Urethral stenosis	HP:0008661
7461	CLIP2	Abnormal carotid artery morphology	HP:0005344
7461	CLIP2	Nausea and vomiting	HP:0002017
7461	CLIP2	Intellectual disability	HP:0001249
7461	CLIP2	Spina bifida occulta	HP:0003298
7461	CLIP2	Short stature	HP:0004322
7461	CLIP2	Constipation	HP:0002019
7461	CLIP2	Anxiety	HP:0000739
7461	CLIP2	Pes planus	HP:0001763
7461	CLIP2	Gastroesophageal reflux	HP:0002020
7461	CLIP2	Muscular hypotonia	HP:0001252
7461	CLIP2	Megalocornea	HP:0000485
7461	CLIP2	Strabismus	HP:0000486
7461	CLIP2	Malabsorption	HP:0002024
7461	CLIP2	Everted lower lip vermilion	HP:0000232
7461	CLIP2	Obesity	HP:0001513
7461	CLIP2	Spasticity	HP:0001257
7461	CLIP2	Hyperlordosis	HP:0003307
7461	CLIP2	Abdominal pain	HP:0002027
7461	CLIP2	Dysarthria	HP:0001260
7461	CLIP2	Abnormal form of the vertebral bodies	HP:0003312
7461	CLIP2	Rectal prolapse	HP:0002035
7461	CLIP2	Glaucoma	HP:0000501
7461	CLIP2	Kyphosis	HP:0002808
7461	CLIP2	Aortic arch aneurysm	HP:0005113
7461	CLIP2	Visual impairment	HP:0000505
7461	CLIP2	Increased bone mineral density	HP:0011001
7461	CLIP2	Failure to thrive in infancy	HP:0001531
7461	CLIP2	Microcephaly	HP:0000252
7461	CLIP2	Pectus excavatum	HP:0000767
64805	P2RY12	Impaired ADP-induced platelet aggregation	HP:0004866
64805	P2RY12	Bruising susceptibility	HP:0000978
64805	P2RY12	Ecchymosis	HP:0031364
64805	P2RY12	Epistaxis	HP:0000421
64805	P2RY12	Autosomal recessive inheritance	HP:0000007
64805	P2RY12	Persistent bleeding after trauma	HP:0001934
64805	P2RY12	Prolonged bleeding after surgery	HP:0004846
56616	DIABLO	Autosomal dominant inheritance	HP:0000006
56616	DIABLO	Sensorineural hearing impairment	HP:0000407
56616	DIABLO	Tinnitus	HP:0000360
56616	DIABLO	Progressive	HP:0003676
7466	WFS1	Primary gonadal insufficiency	HP:0008193
7466	WFS1	Sideroblastic anemia	HP:0001924
7466	WFS1	Autosomal dominant inheritance	HP:0000006
7466	WFS1	Developmental cataract	HP:0000519
7466	WFS1	Autosomal recessive inheritance	HP:0000007
7466	WFS1	Optic atrophy	HP:0000648
7466	WFS1	Recurrent urinary tract infections	HP:0000010
7466	WFS1	Neurogenic bladder	HP:0000011
7466	WFS1	Cerebral atrophy	HP:0002059
7466	WFS1	Schizophrenia	HP:0100753
7466	WFS1	Severe postnatal growth retardation	HP:0008850
7466	WFS1	Gastrointestinal dysmotility	HP:0002579
7466	WFS1	Peripheral axonal neuropathy	HP:0003477
7466	WFS1	Sensorineural hearing impairment	HP:0000407
7466	WFS1	Progressive sensorineural hearing impairment	HP:0000408
7466	WFS1	Progressive cerebellar ataxia	HP:0002073
7466	WFS1	Male hypogonadism	HP:0000026
7466	WFS1	Testicular atrophy	HP:0000029
7466	WFS1	Gastric ulcer	HP:0002592
7466	WFS1	Polydipsia	HP:0001959
7466	WFS1	Dysuria	HP:0100518
7466	WFS1	Feeding difficulties in infancy	HP:0008872
7466	WFS1	Abnormal autonomic nervous system physiology	HP:0012332
7466	WFS1	Respiratory insufficiency	HP:0002093
7466	WFS1	Abnormality of mesentery morphology	HP:0100016
7466	WFS1	Diabetes mellitus	HP:0000819
7466	WFS1	Nuclear cataract	HP:0100018
7466	WFS1	Hypothyroidism	HP:0000821
7466	WFS1	Central apnea	HP:0002871
7466	WFS1	Delayed puberty	HP:0000823
7466	WFS1	Abnormality of the upper urinary tract	HP:0010935
7466	WFS1	Sleep disturbance	HP:0002360
7466	WFS1	Tremor	HP:0001337
7466	WFS1	Gastrointestinal hemorrhage	HP:0002239
7466	WFS1	Pigmentary retinopathy	HP:0000580
7466	WFS1	Behavioral abnormality	HP:0000708
7466	WFS1	Psychosis	HP:0000709
7466	WFS1	Cerebral cortical atrophy	HP:0002120
7466	WFS1	Developmental regression	HP:0002376
7466	WFS1	Hydroureter	HP:0000072
7466	WFS1	Limited mobility of proximal interphalangeal joint	HP:0006217
7466	WFS1	Depressivity	HP:0000716
7466	WFS1	Autism	HP:0000717
7466	WFS1	Congenital sensorineural hearing impairment	HP:0008527
7466	WFS1	Thrombocytopenia	HP:0001873
7466	WFS1	Dementia	HP:0000726
7466	WFS1	Autistic behavior	HP:0000729
7466	WFS1	Ophthalmoplegia	HP:0000602
7466	WFS1	Dysphagia	HP:0002015
7466	WFS1	Central diabetes insipidus	HP:0000863
7466	WFS1	Intellectual disability	HP:0001249
7466	WFS1	Stroke-like episode	HP:0002401
7466	WFS1	Megaloblastic anemia	HP:0001889
7466	WFS1	Hallucinations	HP:0000738
7466	WFS1	Seizures	HP:0001250
7466	WFS1	Ataxia	HP:0001251
7466	WFS1	Constipation	HP:0002019
7466	WFS1	Anxiety	HP:0000739
7466	WFS1	Peripheral neuropathy	HP:0009830
7466	WFS1	Cardiomyopathy	HP:0001638
7466	WFS1	Growth delay	HP:0001510
7466	WFS1	Malabsorption	HP:0002024
7466	WFS1	Diabetes insipidus	HP:0000873
7466	WFS1	Joint stiffness	HP:0001387
7466	WFS1	Dysarthria	HP:0001260
7466	WFS1	Hearing impairment	HP:0000365
7466	WFS1	Anemia	HP:0001903
7466	WFS1	Nephropathy	HP:0000112
7466	WFS1	Glaucoma	HP:0000501
7466	WFS1	Abnormality of the pinna	HP:0000377
7466	WFS1	Ptosis	HP:0000508
7466	WFS1	Low-frequency sensorineural hearing impairment	HP:0008573
7466	WFS1	Myopathy	HP:0003198
7466	WFS1	Hydronephrosis	HP:0000126
7466	WFS1	Nystagmus	HP:0000639
7467	WHCR	Preauricular skin tag	HP:0000384
7467	WHCR	Craniofacial asymmetry	HP:0004484
7467	WHCR	Hemangioma	HP:0001028
7467	WHCR	Vertebral fusion	HP:0002948
7467	WHCR	Autosomal dominant inheritance	HP:0000006
7467	WHCR	Rib fusion	HP:0000902
7467	WHCR	Proptosis	HP:0000520
7467	WHCR	Prominent glabella	HP:0002057
7467	WHCR	Generalized hypotonia	HP:0001290
7467	WHCR	Hip dislocation	HP:0002827
7467	WHCR	Severe postnatal growth retardation	HP:0008850
7467	WHCR	Stenosis of the external auditory canal	HP:0000402
7467	WHCR	Split hand	HP:0001171
7467	WHCR	Hyperconvex fingernails	HP:0001812
7467	WHCR	Conductive hearing impairment	HP:0000405
7467	WHCR	Decreased fetal movement	HP:0001558
7467	WHCR	Aplasia of the uterus	HP:0000151
7467	WHCR	Sensorineural hearing impairment	HP:0000407
7467	WHCR	Preaxial hand polydactyly	HP:0001177
7467	WHCR	Downturned corners of mouth	HP:0002714
7467	WHCR	Cryptorchidism	HP:0000028
7467	WHCR	Hypodontia	HP:0000668
7467	WHCR	Epicanthus	HP:0000286
7467	WHCR	Radioulnar synostosis	HP:0002974
7467	WHCR	Sporadic	HP:0003745
7467	WHCR	Immunodeficiency	HP:0002721
7467	WHCR	Rieger anomaly	HP:0000558
7467	WHCR	Wide nasal bridge	HP:0000431
7467	WHCR	Cleft palate	HP:0000175
7467	WHCR	Hypospadias	HP:0000047
7467	WHCR	Metatarsus adductus	HP:0001840
7467	WHCR	EEG abnormality	HP:0002353
7467	WHCR	Preaxial foot polydactyly	HP:0001841
7467	WHCR	Short thumb	HP:0009778
7467	WHCR	Absent septum pellucidum	HP:0001331
7467	WHCR	Biliary tract abnormality	HP:0001080
7467	WHCR	Single transverse palmar crease	HP:0000954
7467	WHCR	Malrotation of small bowel	HP:0004794
7467	WHCR	Precocious puberty	HP:0000826
7467	WHCR	Short upper lip	HP:0000188
7467	WHCR	Hypertelorism	HP:0000316
7467	WHCR	Convex nasal ridge	HP:0000444
7467	WHCR	Ectopia pupillae	HP:0009918
7467	WHCR	Delayed skeletal maturation	HP:0002750
7467	WHCR	Sacral dimple	HP:0000960
7467	WHCR	Short philtrum	HP:0000322
7467	WHCR	Periventricular cysts	HP:0007109
7467	WHCR	Ventriculomegaly	HP:0002119
7467	WHCR	Cleft upper lip	HP:0000204
7467	WHCR	Webbed neck	HP:0000465
7467	WHCR	Accessory spleen	HP:0001747
7467	WHCR	Cavum septum pellucidum	HP:0002389
7467	WHCR	Abnormal sternal ossification	HP:0011863
7467	WHCR	Aplasia cutis congenita of scalp	HP:0007385
7467	WHCR	Scoliosis	HP:0002650
7467	WHCR	Micrognathia	HP:0000347
7467	WHCR	High forehead	HP:0000348
7467	WHCR	Stereotypy	HP:0000733
7467	WHCR	Ventricular septal defect	HP:0001629
7467	WHCR	Atrial septal defect	HP:0001631
7467	WHCR	Tethered cord	HP:0002144
7467	WHCR	Seizures	HP:0001250
7467	WHCR	Talipes equinovarus	HP:0001762
7467	WHCR	Short stature	HP:0004322
7467	WHCR	Iris coloboma	HP:0000612
7467	WHCR	Failure to thrive	HP:0001508
7467	WHCR	Gastroesophageal reflux	HP:0002020
7467	WHCR	Strabismus	HP:0000486
7467	WHCR	Intrauterine growth retardation	HP:0001511
7467	WHCR	Hip dysplasia	HP:0001385
7467	WHCR	Pseudoepiphyses of the metacarpals	HP:0009193
7467	WHCR	Hydrocephalus	HP:0000238
7467	WHCR	Small for gestational age	HP:0001518
7467	WHCR	Global developmental delay	HP:0001263
7467	WHCR	Intellectual disability, severe	HP:0010864
7467	WHCR	Abnormal form of the vertebral bodies	HP:0003312
7467	WHCR	Low posterior hairline	HP:0002162
7467	WHCR	Preauricular pit	HP:0004467
7467	WHCR	Kyphosis	HP:0002808
7467	WHCR	Highly arched eyebrow	HP:0002553
7467	WHCR	Abnormality of the pinna	HP:0000377
7467	WHCR	Agenesis of corpus callosum	HP:0001274
7467	WHCR	Ptosis	HP:0000508
7467	WHCR	Microcephaly	HP:0000252
7467	WHCR	Short hallux	HP:0010109
7467	WHCR	Nystagmus	HP:0000639
7467	WHCR	Rib segmentation abnormalities	HP:0006655
7467	WHCR	Decreased muscle mass	HP:0003199
7468	NSD2	Hemangioma	HP:0001028
7468	NSD2	Autosomal dominant inheritance	HP:0000006
7468	NSD2	Congenital diaphragmatic hernia	HP:0000776
7468	NSD2	Proptosis	HP:0000520
7468	NSD2	Prominent glabella	HP:0002057
7468	NSD2	Generalized hypotonia	HP:0001290
7468	NSD2	Hip dislocation	HP:0002827
7468	NSD2	Dolichocephaly	HP:0000268
7468	NSD2	Hyperconvex fingernails	HP:0001812
7468	NSD2	Decreased fetal movement	HP:0001558
7468	NSD2	Cryptorchidism	HP:0000028
7468	NSD2	Epicanthus	HP:0000286
7468	NSD2	Abdominal situs inversus	HP:0003363
7468	NSD2	Rieger anomaly	HP:0000558
7468	NSD2	Hypospadias	HP:0000047
7468	NSD2	Aplasia/Hypoplasia of the lungs	HP:0006703
7468	NSD2	Metatarsus adductus	HP:0001840
7468	NSD2	EEG abnormality	HP:0002353
7468	NSD2	Preaxial foot polydactyly	HP:0001841
7468	NSD2	Short thumb	HP:0009778
7468	NSD2	Absent septum pellucidum	HP:0001331
7468	NSD2	Aplasia/Hypoplasia of the nipples	HP:0006709
7468	NSD2	Biliary tract abnormality	HP:0001080
7468	NSD2	Precocious puberty	HP:0000826
7468	NSD2	Hypertelorism	HP:0000316
7468	NSD2	Short philtrum	HP:0000322
7468	NSD2	Ventriculomegaly	HP:0002119
7468	NSD2	Abnormality of the kidney	HP:0000077
7468	NSD2	Calvarial skull defect	HP:0001362
7468	NSD2	Cavum septum pellucidum	HP:0002389
7468	NSD2	Abnormal sternal ossification	HP:0011863
7468	NSD2	Scoliosis	HP:0002650
7468	NSD2	Micrognathia	HP:0000347
7468	NSD2	High forehead	HP:0000348
7468	NSD2	Ventricular septal defect	HP:0001629
7468	NSD2	Atrial septal defect	HP:0001631
7468	NSD2	Tethered cord	HP:0002144
7468	NSD2	Iris coloboma	HP:0000612
7468	NSD2	Microtia	HP:0008551
7468	NSD2	Hip dysplasia	HP:0001385
7468	NSD2	Hearing impairment	HP:0000365
7468	NSD2	Low-set, posteriorly rotated ears	HP:0000368
7468	NSD2	Intellectual disability, severe	HP:0010864
7468	NSD2	Low posterior hairline	HP:0002162
7468	NSD2	Preauricular pit	HP:0004467
7468	NSD2	Abnormal heart valve morphology	HP:0001654
7468	NSD2	Abnormality of the pinna	HP:0000377
7468	NSD2	Short hallux	HP:0010109
7468	NSD2	Hypoplastic pubic rami	HP:0008830
7468	NSD2	Nystagmus	HP:0000639
7468	NSD2	Decreased muscle mass	HP:0003199
7468	NSD2	Preauricular skin tag	HP:0000384
7468	NSD2	Craniofacial asymmetry	HP:0004484
7468	NSD2	Vertebral fusion	HP:0002948
7468	NSD2	Chronic otitis media	HP:0000389
7468	NSD2	Rib fusion	HP:0000902
7468	NSD2	Sclerocornea	HP:0000647
7468	NSD2	Optic atrophy	HP:0000648
7468	NSD2	Arachnodactyly	HP:0001166
7468	NSD2	Abnormality of the gallbladder	HP:0005264
7468	NSD2	Severe postnatal growth retardation	HP:0008850
7468	NSD2	Stenosis of the external auditory canal	HP:0000402
7468	NSD2	Split hand	HP:0001171
7468	NSD2	Conductive hearing impairment	HP:0000405
7468	NSD2	Aplasia of the uterus	HP:0000151
7468	NSD2	Sensorineural hearing impairment	HP:0000407
7468	NSD2	Preaxial hand polydactyly	HP:0001177
7468	NSD2	Downturned corners of mouth	HP:0002714
7468	NSD2	Hypodontia	HP:0000668
7468	NSD2	Recurrent respiratory infections	HP:0002205
7468	NSD2	Radioulnar synostosis	HP:0002974
7468	NSD2	Sporadic	HP:0003745
7468	NSD2	Immunodeficiency	HP:0002721
7468	NSD2	High anterior hairline	HP:0009890
7468	NSD2	Osteoporosis	HP:0000939
7468	NSD2	Wide nasal bridge	HP:0000431
7468	NSD2	Cleft palate	HP:0000175
7468	NSD2	Abnormality of movement	HP:0100022
7468	NSD2	Single transverse palmar crease	HP:0000954
7468	NSD2	Malrotation of small bowel	HP:0004794
7468	NSD2	Short upper lip	HP:0000188
7468	NSD2	Convex nasal ridge	HP:0000444
7468	NSD2	Delayed skeletal maturation	HP:0002750
7468	NSD2	Ectopia pupillae	HP:0009918
7468	NSD2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
7468	NSD2	Sacral dimple	HP:0000960
7468	NSD2	Periventricular cysts	HP:0007109
7468	NSD2	Cleft upper lip	HP:0000204
7468	NSD2	Webbed neck	HP:0000465
7468	NSD2	Accessory spleen	HP:0001747
7468	NSD2	Frontal bossing	HP:0002007
7468	NSD2	Aplasia cutis congenita of scalp	HP:0007385
7468	NSD2	Stereotypy	HP:0000733
7468	NSD2	Talipes equinovarus	HP:0001762
7468	NSD2	Seizures	HP:0001250
7468	NSD2	Short stature	HP:0004322
7468	NSD2	Ataxia	HP:0001251
7468	NSD2	Failure to thrive	HP:0001508
7468	NSD2	Muscular hypotonia	HP:0001252
7468	NSD2	Gastroesophageal reflux	HP:0002020
7468	NSD2	Megalocornea	HP:0000485
7468	NSD2	Strabismus	HP:0000486
7468	NSD2	Intrauterine growth retardation	HP:0001511
7468	NSD2	Retinopathy	HP:0000488
7468	NSD2	Pseudoepiphyses of the metacarpals	HP:0009193
7468	NSD2	Downslanted palpebral fissures	HP:0000494
7468	NSD2	Hydrocephalus	HP:0000238
7468	NSD2	Small for gestational age	HP:0001518
7468	NSD2	Disproportionate tall stature	HP:0001519
7468	NSD2	Global developmental delay	HP:0001263
7468	NSD2	Abnormal form of the vertebral bodies	HP:0003312
7468	NSD2	Kyphosis	HP:0002808
7468	NSD2	Highly arched eyebrow	HP:0002553
7468	NSD2	Agenesis of corpus callosum	HP:0001274
7468	NSD2	Ptosis	HP:0000508
7468	NSD2	Microcephaly	HP:0000252
7468	NSD2	Rib segmentation abnormalities	HP:0006655
7469	NELFA	Hemangioma	HP:0001028
7469	NELFA	Chronic otitis media	HP:0000389
7469	NELFA	Rib fusion	HP:0000902
7469	NELFA	Sclerocornea	HP:0000647
7469	NELFA	Congenital diaphragmatic hernia	HP:0000776
7469	NELFA	Proptosis	HP:0000520
7469	NELFA	Optic atrophy	HP:0000648
7469	NELFA	Dolichocephaly	HP:0000268
7469	NELFA	Arachnodactyly	HP:0001166
7469	NELFA	Abnormality of the gallbladder	HP:0005264
7469	NELFA	Split hand	HP:0001171
7469	NELFA	Decreased fetal movement	HP:0001558
7469	NELFA	Preaxial hand polydactyly	HP:0001177
7469	NELFA	Downturned corners of mouth	HP:0002714
7469	NELFA	Cryptorchidism	HP:0000028
7469	NELFA	Hypodontia	HP:0000668
7469	NELFA	Recurrent respiratory infections	HP:0002205
7469	NELFA	Epicanthus	HP:0000286
7469	NELFA	High anterior hairline	HP:0009890
7469	NELFA	Abdominal situs inversus	HP:0003363
7469	NELFA	Osteoporosis	HP:0000939
7469	NELFA	Wide nasal bridge	HP:0000431
7469	NELFA	Hypospadias	HP:0000047
7469	NELFA	Aplasia/Hypoplasia of the lungs	HP:0006703
7469	NELFA	Cleft palate	HP:0000175
7469	NELFA	Short thumb	HP:0009778
7469	NELFA	Aplasia/Hypoplasia of the nipples	HP:0006709
7469	NELFA	Abnormality of movement	HP:0100022
7469	NELFA	Hypertelorism	HP:0000316
7469	NELFA	Delayed skeletal maturation	HP:0002750
7469	NELFA	Aplasia/Hypoplasia of the cerebellum	HP:0007360
7469	NELFA	Sacral dimple	HP:0000960
7469	NELFA	Short philtrum	HP:0000322
7469	NELFA	Cleft upper lip	HP:0000204
7469	NELFA	Abnormality of the kidney	HP:0000077
7469	NELFA	Calvarial skull defect	HP:0001362
7469	NELFA	Frontal bossing	HP:0002007
7469	NELFA	Aplasia cutis congenita of scalp	HP:0007385
7469	NELFA	Scoliosis	HP:0002650
7469	NELFA	Micrognathia	HP:0000347
7469	NELFA	High forehead	HP:0000348
7469	NELFA	Atrial septal defect	HP:0001631
7469	NELFA	Tethered cord	HP:0002144
7469	NELFA	Talipes equinovarus	HP:0001762
7469	NELFA	Seizures	HP:0001250
7469	NELFA	Ataxia	HP:0001251
7469	NELFA	Failure to thrive	HP:0001508
7469	NELFA	Muscular hypotonia	HP:0001252
7469	NELFA	Iris coloboma	HP:0000612
7469	NELFA	Megalocornea	HP:0000485
7469	NELFA	Strabismus	HP:0000486
7469	NELFA	Microtia	HP:0008551
7469	NELFA	Intrauterine growth retardation	HP:0001511
7469	NELFA	Retinopathy	HP:0000488
7469	NELFA	Hearing impairment	HP:0000365
7469	NELFA	Downslanted palpebral fissures	HP:0000494
7469	NELFA	Disproportionate tall stature	HP:0001519
7469	NELFA	Global developmental delay	HP:0001263
7469	NELFA	Abnormal form of the vertebral bodies	HP:0003312
7469	NELFA	Low-set, posteriorly rotated ears	HP:0000368
7469	NELFA	Intellectual disability, severe	HP:0010864
7469	NELFA	Low posterior hairline	HP:0002162
7469	NELFA	Abnormal heart valve morphology	HP:0001654
7469	NELFA	Kyphosis	HP:0002808
7469	NELFA	Highly arched eyebrow	HP:0002553
7469	NELFA	Agenesis of corpus callosum	HP:0001274
7469	NELFA	Ptosis	HP:0000508
7469	NELFA	Microcephaly	HP:0000252
7469	NELFA	Short hallux	HP:0010109
7469	NELFA	Hypoplastic pubic rami	HP:0008830
7469	NELFA	Nystagmus	HP:0000639
7469	NELFA	Rib segmentation abnormalities	HP:0006655
7471	WNT1	Short stature	HP:0004322
7471	WNT1	Recurrent fractures	HP:0002757
7471	WNT1	Autosomal recessive inheritance	HP:0000007
7471	WNT1	Gait disturbance	HP:0001288
7471	WNT1	Cerebellar hypoplasia	HP:0001321
7471	WNT1	Vertebral compression fractures	HP:0002953
7471	WNT1	Osteoporosis	HP:0000939
7471	WNT1	Schizencephaly	HP:0010636
7471	WNT1	Hypoplasia of the pons	HP:0012110
7471	WNT1	Global developmental delay	HP:0001263
7471	WNT1	Blue sclerae	HP:0000592
7471	WNT1	Thin ribs	HP:0000883
7471	WNT1	Kyphosis	HP:0002808
7471	WNT1	Scoliosis	HP:0002650
7471	WNT1	Bone pain	HP:0002653
7471	WNT1	Platyspondyly	HP:0000926
56623	INPP5E	Macrocephaly	HP:0000256
56623	INPP5E	Multicystic kidney dysplasia	HP:0000003
56623	INPP5E	Cataract	HP:0000518
56623	INPP5E	Autosomal recessive inheritance	HP:0000007
56623	INPP5E	Gait disturbance	HP:0001288
56623	INPP5E	Generalized hypotonia	HP:0001290
56623	INPP5E	Chronic hepatic failure	HP:0100626
56623	INPP5E	Long face	HP:0000276
56623	INPP5E	Inguinal hernia	HP:0000023
56623	INPP5E	Epicanthus	HP:0000286
56623	INPP5E	Agenesis of cerebellar vermis	HP:0002335
56623	INPP5E	Encephalocele	HP:0002084
56623	INPP5E	Foot polydactyly	HP:0001829
56623	INPP5E	Occipital encephalocele	HP:0002085
56623	INPP5E	Retinal dysplasia	HP:0007973
56623	INPP5E	Intellectual disability, moderate	HP:0002342
56623	INPP5E	Cerebellar vermis hypoplasia	HP:0001320
56623	INPP5E	Retinal dystrophy	HP:0000556
56623	INPP5E	Congenital hepatic fibrosis	HP:0002612
56623	INPP5E	Micropenis	HP:0000054
56623	INPP5E	Chorioretinal coloboma	HP:0000567
56623	INPP5E	Central apnea	HP:0002871
56623	INPP5E	Apnea	HP:0002104
56623	INPP5E	Protruding tongue	HP:0010808
56623	INPP5E	Tremor	HP:0001337
56623	INPP5E	Abnormal saccadic eye movements	HP:0000570
56623	INPP5E	Visual loss	HP:0000572
56623	INPP5E	Episodic tachypnea	HP:0002876
56623	INPP5E	Hypoplasia of the brainstem	HP:0002365
56623	INPP5E	Hyperreflexia	HP:0001347
56623	INPP5E	Biparietal narrowing	HP:0004422
56623	INPP5E	Optic nerve coloboma	HP:0000588
56623	INPP5E	Hemifacial spasm	HP:0010828
56623	INPP5E	Polymicrogyria	HP:0002126
56623	INPP5E	Neoplasm of the liver	HP:0002896
56623	INPP5E	Renal insufficiency	HP:0000083
56623	INPP5E	Enlarged fossa interpeduncularis	HP:0100951
56623	INPP5E	Scoliosis	HP:0002650
56623	INPP5E	Impaired smooth pursuit	HP:0007772
56623	INPP5E	Elevated hepatic transaminase	HP:0002910
56623	INPP5E	Abnormality of the hypothalamus-pituitary axis	HP:0000864
56623	INPP5E	Iris coloboma	HP:0000612
56623	INPP5E	Occipital myelomeningocele	HP:0007271
56623	INPP5E	Abnormality of ocular smooth pursuit	HP:0000617
56623	INPP5E	Renal cyst	HP:0000107
56623	INPP5E	Low-set, posteriorly rotated ears	HP:0000368
56623	INPP5E	Nephropathy	HP:0000112
56623	INPP5E	Low-set ears	HP:0000369
56623	INPP5E	Cirrhosis	HP:0001394
56623	INPP5E	Molar tooth sign on MRI	HP:0002419
56623	INPP5E	Dextrocardia	HP:0001651
56623	INPP5E	Hepatic fibrosis	HP:0001395
56623	INPP5E	Nystagmus	HP:0000639
56623	INPP5E	Intrahepatic biliary atresia	HP:0005248
56623	INPP5E	Portal hypertension	HP:0001409
56623	INPP5E	Hand polydactyly	HP:0001161
56623	INPP5E	Postaxial hand polydactyly	HP:0001162
56623	INPP5E	Abnormal vertebral morphology	HP:0003468
56623	INPP5E	Oculomotor apraxia	HP:0000657
56623	INPP5E	Heterogeneous	HP:0001425
56623	INPP5E	Dysgenesis of the cerebellar vermis	HP:0002195
56623	INPP5E	Elongated superior cerebellar peduncle	HP:0011933
56623	INPP5E	Macroglossia	HP:0000158
56623	INPP5E	Situs inversus totalis	HP:0001696
56623	INPP5E	Triangular-shaped open mouth	HP:0200096
56623	INPP5E	Truncal obesity	HP:0001956
56623	INPP5E	Feeding difficulties in infancy	HP:0008872
56623	INPP5E	Prominent nasal bridge	HP:0000426
56623	INPP5E	Cleft palate	HP:0000175
56623	INPP5E	Feeding difficulties	HP:0011968
56623	INPP5E	Hepatomegaly	HP:0002240
56623	INPP5E	Aplasia/Hypoplasia of the cerebellum	HP:0007360
56623	INPP5E	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
56623	INPP5E	Oral cleft	HP:0000202
56623	INPP5E	Aganglionic megacolon	HP:0002251
56623	INPP5E	Brainstem dysplasia	HP:0002508
56623	INPP5E	Aggressive behavior	HP:0000718
56623	INPP5E	Anteverted nares	HP:0000463
56623	INPP5E	Splenomegaly	HP:0001744
56623	INPP5E	Childhood-onset truncal obesity	HP:0008915
56623	INPP5E	Prominent forehead	HP:0011220
56623	INPP5E	Abnormality of neuronal migration	HP:0002269
56623	INPP5E	Retinal coloboma	HP:0000480
56623	INPP5E	Abnormality of the foot	HP:0001760
56623	INPP5E	Intellectual disability	HP:0001249
56623	INPP5E	Seizures	HP:0001250
56623	INPP5E	Ataxia	HP:0001251
56623	INPP5E	Muscular hypotonia	HP:0001252
56623	INPP5E	Strabismus	HP:0000486
56623	INPP5E	Neonatal breathing dysregulation	HP:0002790
56623	INPP5E	Self-mutilation	HP:0000742
56623	INPP5E	Hydrocephalus	HP:0000238
56623	INPP5E	Delayed speech and language development	HP:0000750
56623	INPP5E	Global developmental delay	HP:0001263
56623	INPP5E	Reduced visual acuity	HP:0007663
56623	INPP5E	Hyperactivity	HP:0000752
56623	INPP5E	Abnormal form of the vertebral bodies	HP:0003312
56623	INPP5E	Highly arched eyebrow	HP:0002553
56623	INPP5E	Visual impairment	HP:0000505
56623	INPP5E	Agenesis of corpus callosum	HP:0001274
56623	INPP5E	Ptosis	HP:0000508
7473	WNT3	Abnormality of the larynx	HP:0001600
7473	WNT3	Multicystic kidney dysplasia	HP:0000003
7473	WNT3	Peripheral pulmonary vessel aplasia	HP:0005316
7473	WNT3	Urethral atresia	HP:0000068
7473	WNT3	Aplasia/Hypoplasia involving the nose	HP:0009924
7473	WNT3	Choanal atresia	HP:0000453
7473	WNT3	Cataract	HP:0000518
7473	WNT3	Hypoplastic pelvis	HP:0008839
7473	WNT3	Abnormality of the diaphragm	HP:0000775
7473	WNT3	Autosomal recessive inheritance	HP:0000007
7473	WNT3	Gastroschisis	HP:0001543
7473	WNT3	Optic atrophy	HP:0000648
7473	WNT3	Oral cleft	HP:0000202
7473	WNT3	Single naris	HP:0009932
7473	WNT3	Cleft upper lip	HP:0000204
7473	WNT3	Aplasia/Hypoplasia involving the pelvis	HP:0009103
7473	WNT3	Heterogeneous	HP:0001425
7473	WNT3	Asplenia	HP:0001746
7473	WNT3	Vaginal atresia	HP:0000148
7473	WNT3	Abnormally ossified vertebrae	HP:0100569
7473	WNT3	Missing ribs	HP:0000921
7473	WNT3	Tracheal stenosis	HP:0002777
7473	WNT3	Polyhydramnios	HP:0001561
7473	WNT3	Micrognathia	HP:0000347
7473	WNT3	Cryptorchidism	HP:0000028
7473	WNT3	Adrenal gland agenesis	HP:0011743
7473	WNT3	Narrow mouth	HP:0000160
7473	WNT3	Microcornea	HP:0000482
7473	WNT3	Iris coloboma	HP:0000612
7473	WNT3	Anal atresia	HP:0002023
7473	WNT3	Microtia	HP:0008551
7473	WNT3	Renal agenesis	HP:0000104
7473	WNT3	Pulmonary hypoplasia	HP:0002089
7473	WNT3	Absent external genitalia	HP:0000042
7473	WNT3	Single umbilical artery	HP:0001195
7473	WNT3	Septo-optic dysplasia	HP:0100842
7473	WNT3	Hydrocephalus	HP:0000238
7473	WNT3	Cleft palate	HP:0000175
7473	WNT3	Aplasia/Hypoplasia of the lungs	HP:0006703
7473	WNT3	Tetraamelia	HP:0003057
7473	WNT3	Low-set ears	HP:0000369
7473	WNT3	Abnormal lung lobation	HP:0002101
7473	WNT3	Aplasia/Hypoplasia of the nipples	HP:0006709
7473	WNT3	Microphthalmia	HP:0000568
7473	WNT3	Hypoplasia of the fallopian tube	HP:0008697
7473	WNT3	Agenesis of corpus callosum	HP:0001274
7474	WNT5A	Pectus carinatum	HP:0000768
7474	WNT5A	Macrocephaly	HP:0000256
7474	WNT5A	Umbilical hernia	HP:0001537
7474	WNT5A	Wide anterior fontanel	HP:0000260
7474	WNT5A	Autosomal dominant inheritance	HP:0000006
7474	WNT5A	Proptosis	HP:0000520
7474	WNT5A	Hip dislocation	HP:0002827
7474	WNT5A	Long eyelashes	HP:0000527
7474	WNT5A	Malar flattening	HP:0000272
7474	WNT5A	Retrognathia	HP:0000278
7474	WNT5A	Inguinal hernia	HP:0000023
7474	WNT5A	Midface retrusion	HP:0011800
7474	WNT5A	Cryptorchidism	HP:0000028
7474	WNT5A	Nevus flammeus	HP:0001052
7474	WNT5A	Epicanthus	HP:0000286
7474	WNT5A	Hypoplasia of penis	HP:0008736
7474	WNT5A	Epispadias	HP:0000039
7474	WNT5A	Broad thumb	HP:0011304
7474	WNT5A	Broad toe	HP:0001837
7474	WNT5A	Hypospadias	HP:0000047
7474	WNT5A	Specific learning disability	HP:0001328
7474	WNT5A	Short hard palate	HP:0010290
7474	WNT5A	Median cleft lip and palate	HP:0008501
7474	WNT5A	Micropenis	HP:0000054
7474	WNT5A	Open bite	HP:0010807
7474	WNT5A	Bifid tongue	HP:0010297
7474	WNT5A	Hypoplastic labia majora	HP:0000059
7474	WNT5A	Hypertelorism	HP:0000316
7474	WNT5A	Alopecia	HP:0001596
7474	WNT5A	Clitoral hypoplasia	HP:0000060
7474	WNT5A	Increased number of teeth	HP:0011069
7474	WNT5A	Bifid distal phalanx of toe	HP:0001853
7474	WNT5A	Hypoplastic labia minora	HP:0000064
7474	WNT5A	Short philtrum	HP:0000322
7474	WNT5A	Upslanted palpebral fissure	HP:0000582
7474	WNT5A	Renal duplication	HP:0000075
7474	WNT5A	Blue sclerae	HP:0000592
7474	WNT5A	Flat face	HP:0012368
7474	WNT5A	Long philtrum	HP:0000343
7474	WNT5A	Scoliosis	HP:0002650
7474	WNT5A	Micrognathia	HP:0000347
7474	WNT5A	Onychogryposis of fingernail	HP:0040036
7474	WNT5A	Posteriorly rotated ears	HP:0000358
7474	WNT5A	Euryblepharon	HP:0012905
7474	WNT5A	Hip dysplasia	HP:0001385
7474	WNT5A	Hearing impairment	HP:0000365
7474	WNT5A	Avascular necrosis of the capital femoral epiphysis	HP:0005743
7474	WNT5A	Low-set ears	HP:0000369
7474	WNT5A	Coxa valga	HP:0002673
7474	WNT5A	Clinodactyly of the 5th finger	HP:0004209
7474	WNT5A	Small hand	HP:0200055
7474	WNT5A	Nail dysplasia	HP:0002164
7474	WNT5A	Hemivertebrae	HP:0002937
7474	WNT5A	Short nose	HP:0003196
7474	WNT5A	Short middle phalanx of the 5th finger	HP:0004220
7474	WNT5A	Long palpebral fissure	HP:0000637
7474	WNT5A	Hydronephrosis	HP:0000126
7474	WNT5A	Brachydactyly	HP:0001156
7474	WNT5A	Clinodactyly	HP:0030084
7474	WNT5A	Camptodactyly of finger	HP:0100490
7474	WNT5A	High, narrow palate	HP:0002705
7474	WNT5A	Downturned corners of mouth	HP:0002714
7474	WNT5A	Duplication of the distal phalanx of hand	HP:0009883
7474	WNT5A	Hypodontia	HP:0000668
7474	WNT5A	Macroglossia	HP:0000158
7474	WNT5A	Depressed nasal bridge	HP:0005280
7474	WNT5A	Anodontia	HP:0000674
7474	WNT5A	Oligodontia	HP:0000677
7474	WNT5A	Dental crowding	HP:0000678
7474	WNT5A	Micromelia	HP:0002983
7474	WNT5A	Right ventricular outlet tract obstruction	HP:0001705
7474	WNT5A	Delayed eruption of teeth	HP:0000684
7474	WNT5A	Wide nasal bridge	HP:0000431
7474	WNT5A	Severe short stature	HP:0003510
7474	WNT5A	Short palm	HP:0004279
7474	WNT5A	Capillary hemangioma	HP:0005306
7474	WNT5A	Femoral hernia	HP:0100541
7474	WNT5A	Wide nose	HP:0000445
7474	WNT5A	Narrow palate	HP:0000189
7474	WNT5A	Delayed skeletal maturation	HP:0002750
7474	WNT5A	Fingernail dysplasia	HP:0100798
7474	WNT5A	Sacral dimple	HP:0000960
7474	WNT5A	Rhizomelia	HP:0008905
7474	WNT5A	Oral cleft	HP:0000202
7474	WNT5A	Anteverted nares	HP:0000463
7474	WNT5A	Triangular mouth	HP:0000207
7474	WNT5A	Ridged fingernail	HP:0008402
7474	WNT5A	Mesomelia	HP:0003027
7474	WNT5A	Gingival overgrowth	HP:0000212
7474	WNT5A	Prominent forehead	HP:0011220
7474	WNT5A	Finger syndactyly	HP:0006101
7474	WNT5A	Short neck	HP:0000470
7474	WNT5A	Frontal bossing	HP:0002007
7474	WNT5A	High palate	HP:0000218
7474	WNT5A	Thin upper lip vermilion	HP:0000219
7474	WNT5A	Intellectual disability	HP:0001249
7474	WNT5A	Elbow dislocation	HP:0003042
7474	WNT5A	Strabismus	HP:0000486
7474	WNT5A	Naevus flammeus of the eyelid	HP:0010733
7474	WNT5A	Downslanted palpebral fissures	HP:0000494
7474	WNT5A	Global developmental delay	HP:0001263
7474	WNT5A	Curly eyelashes	HP:0007665
7474	WNT5A	Radial deviation of finger	HP:0009466
7474	WNT5A	Ptosis	HP:0000508
7474	WNT5A	Coxa vara	HP:0002812
7474	WNT5A	Pectus excavatum	HP:0000767
7476	WNT7A	Pectus carinatum	HP:0000768
7476	WNT7A	Long ear	HP:0400004
7476	WNT7A	Meningocele	HP:0002435
7476	WNT7A	Clinodactyly	HP:0030084
7476	WNT7A	Occipital meningocele	HP:0002436
7476	WNT7A	Anonychia	HP:0001798
7476	WNT7A	Hypoplastic pelvis	HP:0008839
7476	WNT7A	Autosomal recessive inheritance	HP:0000007
7476	WNT7A	Carpal bone aplasia	HP:0004231
7476	WNT7A	Absent toenail	HP:0001802
7476	WNT7A	Postaxial hand polydactyly	HP:0001162
7476	WNT7A	Hip dislocation	HP:0002827
7476	WNT7A	Amenorrhea	HP:0000141
7476	WNT7A	Aplasia of the ulna	HP:0003982
7476	WNT7A	Tracheoesophageal fistula	HP:0002575
7476	WNT7A	Aplasia/Hypoplasia involving the pelvis	HP:0009103
7476	WNT7A	Aplasia/Hypoplasia of the pubic bone	HP:0009104
7476	WNT7A	Barrel-shaped chest	HP:0001552
7476	WNT7A	Pilonidal sinus	HP:0010769
7476	WNT7A	High, narrow palate	HP:0002705
7476	WNT7A	Split hand	HP:0001171
7476	WNT7A	Broad clavicles	HP:0000916
7476	WNT7A	Long face	HP:0000276
7476	WNT7A	Aplasia of the uterus	HP:0000151
7476	WNT7A	Aplasia/Hypoplasia involving the metacarpal bones	HP:0005914
7476	WNT7A	Protruding ear	HP:0000411
7476	WNT7A	Hand oligodactyly	HP:0001180
7476	WNT7A	Cryptorchidism	HP:0000028
7476	WNT7A	Epicanthus	HP:0000286
7476	WNT7A	Hypoplasia of penis	HP:0008736
7476	WNT7A	Ectrodactyly	HP:0100257
7476	WNT7A	Femoral bowing	HP:0002980
7476	WNT7A	Aplasia/Hypoplasia of the phalanges of the hand	HP:0009767
7476	WNT7A	Micromelia	HP:0002983
7476	WNT7A	Hypoplasia of the radius	HP:0002984
7476	WNT7A	Radial bowing	HP:0002986
7476	WNT7A	Disproportionate short stature	HP:0003498
7476	WNT7A	Patellar aplasia	HP:0006443
7476	WNT7A	Elbow flexion contracture	HP:0002987
7476	WNT7A	Aplasia/Hypoplasia of the tarsal bones	HP:0008363
7476	WNT7A	Aplasia/Hypoplasia of metatarsal bones	HP:0001964
7476	WNT7A	Fibular aplasia	HP:0002990
7476	WNT7A	Scrotal hypoplasia	HP:0000046
7476	WNT7A	Wide nasal bridge	HP:0000431
7476	WNT7A	Hypospadias	HP:0000047
7476	WNT7A	Cleft palate	HP:0000175
7476	WNT7A	Abnormality of tibia morphology	HP:0002992
7476	WNT7A	Hypoplastic iliac wing	HP:0002866
7476	WNT7A	Anteriorly displaced genitalia	HP:0003252
7476	WNT7A	Foot oligodactyly	HP:0001849
7476	WNT7A	Congenital pseudoarthrosis of the clavicle	HP:0006585
7476	WNT7A	Narrow palate	HP:0000189
7476	WNT7A	Aplasia/Hypoplasia of the phalanges of the toes	HP:0010173
7476	WNT7A	Aplasia/Hypoplasia of the sacrum	HP:0008517
7476	WNT7A	Calvarial skull defect	HP:0001362
7476	WNT7A	Finger syndactyly	HP:0006101
7476	WNT7A	Short neck	HP:0000470
7476	WNT7A	High palate	HP:0000218
7476	WNT7A	Broad neck	HP:0000475
7476	WNT7A	Talipes	HP:0001883
7476	WNT7A	Micrognathia	HP:0000347
7476	WNT7A	Aplasia/Hypoplasia of the fibula	HP:0006492
7476	WNT7A	Congenital hip dislocation	HP:0001374
7476	WNT7A	Aplasia/Hypoplasia of the ulna	HP:0006495
7476	WNT7A	Humeroradial synostosis	HP:0003041
7476	WNT7A	Talipes equinovarus	HP:0001762
7476	WNT7A	Short stature	HP:0004322
7476	WNT7A	Decreased calvarial ossification	HP:0005474
7476	WNT7A	Phocomelia	HP:0009829
7476	WNT7A	Aplasia/Hypoplasia involving the carpal bones	HP:0006502
7476	WNT7A	Anal atresia	HP:0002023
7476	WNT7A	Intrauterine growth retardation	HP:0001511
7476	WNT7A	Toe syndactyly	HP:0001770
7476	WNT7A	Aplasia/hypoplasia of the femur	HP:0005613
7476	WNT7A	Short foot	HP:0001773
7476	WNT7A	Low-set ears	HP:0000369
7476	WNT7A	Aplastic pubic bones	HP:0008817
7476	WNT7A	Prominent sternum	HP:0000884
7476	WNT7A	Nail dysplasia	HP:0002164
7476	WNT7A	Broad ribs	HP:0000885
7476	WNT7A	Aplasia/Hypoplasia of the 5th finger	HP:0006262
7476	WNT7A	Ulnar deviation of finger	HP:0009465
7476	WNT7A	Hemivertebrae	HP:0002937
7476	WNT7A	Short nose	HP:0003196
7476	WNT7A	Hypoplastic nipples	HP:0002557
7476	WNT7A	Hydrops fetalis	HP:0001789
7476	WNT7A	Elbow ankylosis	HP:0003070
7476	WNT7A	Abnormal finger flexion creases	HP:0006143
7480	WNT10B	Oligodactyly	HP:0012165
7480	WNT10B	Oligodontia	HP:0000677
7480	WNT10B	Sparse hair	HP:0008070
7480	WNT10B	Autosomal dominant inheritance	HP:0000006
7480	WNT10B	Hypoplasia of the maxilla	HP:0000327
7480	WNT10B	Autosomal recessive inheritance	HP:0000007
7480	WNT10B	Toe syndactyly	HP:0001770
7480	WNT10B	Aniridia	HP:0000526
7480	WNT10B	Split foot	HP:0001839
7480	WNT10B	Absent hand	HP:0004050
7480	WNT10B	Microdontia	HP:0000691
7480	WNT10B	Sparse eyebrow	HP:0045075
7480	WNT10B	Split hand	HP:0001171
7480	WNT10B	Finger syndactyly	HP:0006101
7480	WNT10B	Incomplete penetrance	HP:0003829
7480	WNT10B	Sensorineural hearing impairment	HP:0000407
7480	WNT10B	Selective tooth agenesis	HP:0001592
7480	WNT10B	Foot oligodactyly	HP:0001849
7480	WNT10B	Micrognathia	HP:0000347
7480	WNT10B	Hand oligodactyly	HP:0001180
7480	WNT10B	Dry skin	HP:0000958
7486	WRN	Aplasia/Hypoplasia of the skin	HP:0008065
7486	WRN	Skeletal muscle atrophy	HP:0003202
7486	WRN	Ovarian neoplasm	HP:0100615
7486	WRN	Cataract	HP:0000518
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	Abnormal hair morphology	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	Lipoatrophy	HP:0100578
7486	WRN	Congestive heart failure	HP:0001635
7486	WRN	Aplasia/Hypoplasia of the testes	HP:0010468
7486	WRN	Secondary amenorrhea	HP:0000869
7486	WRN	Scleroderma	HP:0100324
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
7490	WT1	Primary gonadal insufficiency	HP:0008193
7490	WT1	Gynecomastia	HP:0000771
7490	WT1	Ascites	HP:0001541
7490	WT1	Autosomal dominant inheritance	HP:0000006
7490	WT1	Cataract	HP:0000518
7490	WT1	Ovarian neoplasm	HP:0100615
7490	WT1	Autosomal recessive inheritance	HP:0000007
7490	WT1	Congenital diaphragmatic hernia	HP:0000776
7490	WT1	Testicular dysgenesis	HP:0008715
7490	WT1	Aniridia	HP:0000526
7490	WT1	Primary amenorrhea	HP:0000786
7490	WT1	Displacement of the urethral meatus	HP:0100627
7490	WT1	Abnormality of the fallopian tube	HP:0011027
7490	WT1	Gonadal dysgenesis with female appearance, male	HP:0008723
7490	WT1	Anomalous pulmonary venous return	HP:0010772
7490	WT1	Hypoplasia of the vagina	HP:0008726
7490	WT1	Decreased serum estradiol	HP:0008214
7490	WT1	Hematuria	HP:0000790
7490	WT1	Pulmonary sequestration	HP:0100632
7490	WT1	Abnormality of the peritoneum	HP:0002585
7490	WT1	Female external genitalia in individual with 46,XY karyotype	HP:0008730
7490	WT1	Azoospermia	HP:0000027
7490	WT1	Cryptorchidism	HP:0000028
7490	WT1	Decreased testicular size	HP:0008734
7490	WT1	Testicular gonadoblastoma	HP:0000030
7490	WT1	Hypoplasia of the corpus callosum	HP:0002079
7490	WT1	Hypoplastic left heart	HP:0004383
7490	WT1	Hypoplasia of penis	HP:0008736
7490	WT1	Weight loss	HP:0001824
7490	WT1	Ambiguous genitalia, male	HP:0000033
7490	WT1	Ileus	HP:0002595
7490	WT1	Testicular neoplasm	HP:0010788
7490	WT1	Male pseudohermaphroditism	HP:0000037
7490	WT1	Elevated circulating follicle stimulating hormone level	HP:0008232
7490	WT1	Hypogonadotrophic hypogonadism	HP:0000044
7490	WT1	Abnormality of the scrotum	HP:0000045
7490	WT1	Hypospadias	HP:0000047
7490	WT1	Hypergonadotropic hypogonadism	HP:0000815
7490	WT1	Aplasia/Hypoplasia of the lungs	HP:0006703
7490	WT1	Micropenis	HP:0000054
7490	WT1	Hypertension	HP:0000822
7490	WT1	Delayed puberty	HP:0000823
7490	WT1	Abnormality of the labia	HP:0000058
7490	WT1	Hydrometrocolpos	HP:0030010
7490	WT1	Ambiguous genitalia, female	HP:0000061
7490	WT1	Ambiguous genitalia	HP:0000062
7490	WT1	Increased circulating gonadotropin level	HP:0000837
7490	WT1	Hypoplasia of the fovea	HP:0007750
7490	WT1	Vanishing testis	HP:0012870
7490	WT1	Polymicrogyria	HP:0002126
7490	WT1	Adrenal insufficiency	HP:0000846
7490	WT1	Neoplasm of the pancreas	HP:0002894
7490	WT1	Opacification of the corneal stroma	HP:0007759
7490	WT1	Neoplasm of the liver	HP:0002896
7490	WT1	Renal insufficiency	HP:0000083
7490	WT1	Horseshoe kidney	HP:0000085
7490	WT1	Scoliosis	HP:0002650
7490	WT1	Micrognathia	HP:0000347
7490	WT1	Progressive	HP:0003676
7490	WT1	Ventricular septal defect	HP:0001629
7490	WT1	Proteinuria	HP:0000093
7490	WT1	Atrial septal defect	HP:0001631
7490	WT1	Optic nerve hypoplasia	HP:0000609
7490	WT1	Focal segmental glomerulosclerosis	HP:0000097
7490	WT1	Nephrotic syndrome	HP:0000100
7490	WT1	Decreased fertility in females	HP:0000868
7490	WT1	Tetralogy of Fallot	HP:0001636
7490	WT1	Nephroblastoma	HP:0002667
7490	WT1	Patent ductus arteriosus	HP:0001643
7490	WT1	Hearing abnormality	HP:0000364
7490	WT1	Anemia	HP:0001903
7490	WT1	Nephropathy	HP:0000112
7490	WT1	Mediastinal lymphadenopathy	HP:0100721
7490	WT1	Aortic valve stenosis	HP:0001650
7490	WT1	Aplasia/Hypoplasia of the iris	HP:0008053
7490	WT1	Nystagmus	HP:0000639
7490	WT1	Crossed fused renal ectopia	HP:0004736
7490	WT1	Abnormality of the uterus	HP:0000130
7490	WT1	Dysfunction of lateral corticospinal tracts	HP:0007299
7490	WT1	Gonadal dysgenesis	HP:0000133
7490	WT1	Transposition of the great arteries	HP:0001669
7490	WT1	Increased proinsulin:insulin ratio	HP:0031883
7490	WT1	Abnormal vagina morphology	HP:0000142
7490	WT1	Coarctation of aorta	HP:0001680
7490	WT1	Heterogeneous	HP:0001425
7490	WT1	Polycystic ovaries	HP:0000147
7490	WT1	Sarcoma	HP:0100242
7490	WT1	Somatic mutation	HP:0001428
7490	WT1	Vaginal atresia	HP:0000148
7490	WT1	Ovarian gonadoblastoma	HP:0000149
7490	WT1	Gonadoblastoma	HP:0000150
7490	WT1	Fever	HP:0001945
7490	WT1	Lymphadenopathy	HP:0002716
7490	WT1	Glucose intolerance	HP:0001952
7490	WT1	Malignant mesothelioma	HP:0100001
7490	WT1	Situs inversus totalis	HP:0001696
7490	WT1	Sparse axillary hair	HP:0002215
7490	WT1	Neoplasm of the central nervous system	HP:0100006
7490	WT1	Urogenital sinus anomaly	HP:0100779
7490	WT1	Osteoporosis	HP:0000939
7490	WT1	Diffuse mesangial sclerosis	HP:0001967
7490	WT1	Neoplasm of the lung	HP:0100526
7490	WT1	Gonadal tissue inappropriate for external genitalia or chromosomal sex	HP:0003248
7490	WT1	Sparse pubic hair	HP:0002225
7490	WT1	Male infertility	HP:0003251
7490	WT1	Contiguous gene syndrome	HP:0001466
7490	WT1	Delayed skeletal maturation	HP:0002750
7490	WT1	Stage 5 chronic kidney disease	HP:0003774
7490	WT1	Hepatomegaly	HP:0002240
7490	WT1	Elevated circulating luteinizing hormone level	HP:0011969
7490	WT1	Abdominal distention	HP:0003270
7490	WT1	Childhood onset	HP:0011463
7490	WT1	Abnormality of the spleen	HP:0001743
7490	WT1	Abnormal sex determination	HP:0012244
7490	WT1	Glomerulopathy	HP:0100820
7490	WT1	Abnormality of cardiovascular system morphology	HP:0030680
7490	WT1	Clitoral hypertrophy	HP:0008665
7490	WT1	True hermaphroditism	HP:0010459
7490	WT1	Streak ovary	HP:0010464
7490	WT1	Intellectual disability	HP:0001249
7490	WT1	Nausea and vomiting	HP:0002017
7490	WT1	Short stature	HP:0004322
7490	WT1	Cachexia	HP:0004326
7490	WT1	Everted lower lip vermilion	HP:0000232
7490	WT1	Obesity	HP:0001513
7490	WT1	Decreased serum testosterone level	HP:0040171
7490	WT1	Abdominal pain	HP:0002027
7490	WT1	Glaucoma	HP:0000501
7490	WT1	Visual impairment	HP:0000505
7490	WT1	Absence of secondary sex characteristics	HP:0008187
7490	WT1	Microcephaly	HP:0000252
7490	WT1	Ptosis	HP:0000508
64837	KLC2	Autosomal recessive inheritance	HP:0000007
64837	KLC2	Optic atrophy	HP:0000648
64837	KLC2	Multiple joint contractures	HP:0002828
64837	KLC2	Hyperreflexia proximally	HP:0007054
64837	KLC2	Hyperhidrosis	HP:0000975
64837	KLC2	Delayed gross motor development	HP:0002194
64837	KLC2	Peripheral axonal neuropathy	HP:0003477
64837	KLC2	Scoliosis	HP:0002650
64837	KLC2	Motor axonal neuropathy	HP:0007002
64837	KLC2	Exaggerated startle response	HP:0002267
64837	KLC2	Flexion contracture	HP:0001371
64837	KLC2	Progressive	HP:0003676
64837	KLC2	Optic disc pallor	HP:0000543
64837	KLC2	Pes cavus	HP:0001761
64837	KLC2	Hyporeflexia of lower limbs	HP:0002600
64837	KLC2	Spastic paraplegia	HP:0001258
64837	KLC2	Progressive spastic paraplegia	HP:0007020
64837	KLC2	Dysarthria	HP:0001260
64837	KLC2	Distal amyotrophy	HP:0003693
64837	KLC2	Distal lower limb amyotrophy	HP:0008944
64837	KLC2	Hyporeflexia	HP:0001265
64837	KLC2	Difficulty walking	HP:0002355
64837	KLC2	Decreased number of peripheral myelinated nerve fibers	HP:0003380
64837	KLC2	Impaired vibration sensation in the lower limbs	HP:0002166
64837	KLC2	Motor delay	HP:0001270
64837	KLC2	Kyphosis	HP:0002808
64837	KLC2	Sensory axonal neuropathy	HP:0003390
64837	KLC2	Nystagmus	HP:0000639
64840	PORCN	Umbilical hernia	HP:0001537
64840	PORCN	Multicystic kidney dysplasia	HP:0000003
64840	PORCN	Omphalocele	HP:0001539
64840	PORCN	Diastasis recti	HP:0001540
64840	PORCN	Arnold-Chiari malformation	HP:0002308
64840	PORCN	Short ribs	HP:0000773
64840	PORCN	Intestinal malrotation	HP:0002566
64840	PORCN	Congenital diaphragmatic hernia	HP:0000776
64840	PORCN	Anteriorly placed anus	HP:0001545
64840	PORCN	Absent toenail	HP:0001802
64840	PORCN	Aniridia	HP:0000526
64840	PORCN	Anophthalmia	HP:0000528
64840	PORCN	Corneal opacity	HP:0007957
64840	PORCN	Inguinal hernia	HP:0000023
64840	PORCN	Absent fingernail	HP:0001817
64840	PORCN	Cryptorchidism	HP:0000028
64840	PORCN	Erythema	HP:0010783
64840	PORCN	Foot polydactyly	HP:0001829
64840	PORCN	Abnormality of epiphysis morphology	HP:0005930
64840	PORCN	Split foot	HP:0001839
64840	PORCN	Aplasia/Hypoplasia of the lungs	HP:0006703
64840	PORCN	Pointed chin	HP:0000307
64840	PORCN	Chorioretinal coloboma	HP:0000567
64840	PORCN	Open bite	HP:0010807
64840	PORCN	Microphthalmia	HP:0000568
64840	PORCN	Foot oligodactyly	HP:0001849
64840	PORCN	Ectopia lentis	HP:0001083
64840	PORCN	Alopecia	HP:0001596
64840	PORCN	Clitoral hypoplasia	HP:0000060
64840	PORCN	Abnormality of the nail	HP:0001597
64840	PORCN	Rough bone trabeculation	HP:0100670
64840	PORCN	Abnormality of the larynx	HP:0001600
64840	PORCN	Short metacarpal	HP:0010049
64840	PORCN	Abnormality of the pulmonary vasculature	HP:0004930
64840	PORCN	Labial hypoplasia	HP:0000066
64840	PORCN	Facial asymmetry	HP:0000324
64840	PORCN	Giant cell tumor of bone	HP:0011847
64840	PORCN	Short phalanx of finger	HP:0009803
64840	PORCN	Reduced number of teeth	HP:0009804
64840	PORCN	Abnormality of dental morphology	HP:0006482
64840	PORCN	Horseshoe kidney	HP:0000085
64840	PORCN	Bifid ureter	HP:0030037
64840	PORCN	Scoliosis	HP:0002650
64840	PORCN	Ventricular septal defect	HP:0001629
64840	PORCN	Congenital hip dislocation	HP:0001374
64840	PORCN	Iris coloboma	HP:0000612
64840	PORCN	Patent ductus arteriosus	HP:0001643
64840	PORCN	Joint laxity	HP:0001388
64840	PORCN	Hearing impairment	HP:0000365
64840	PORCN	Spina bifida	HP:0002414
64840	PORCN	Low-set ears	HP:0000369
64840	PORCN	Abnormality of the middle ear	HP:0000370
64840	PORCN	Nail dysplasia	HP:0002164
64840	PORCN	Cleft ala nasi	HP:0003191
64840	PORCN	Abnormality of the pinna	HP:0000377
64840	PORCN	Linear hyperpigmentation	HP:0007546
64840	PORCN	Hydronephrosis	HP:0000126
64840	PORCN	Short clavicles	HP:0000894
64840	PORCN	Nystagmus	HP:0000639
64840	PORCN	Brachydactyly	HP:0001156
64840	PORCN	Sparse hair	HP:0008070
64840	PORCN	Hypoplastic pelvis	HP:0008839
64840	PORCN	Optic atrophy	HP:0000648
64840	PORCN	Hand polydactyly	HP:0001161
64840	PORCN	Postaxial hand polydactyly	HP:0001162
64840	PORCN	Camptodactyly of finger	HP:0100490
64840	PORCN	X-linked dominant inheritance	HP:0001423
64840	PORCN	Stenosis of the external auditory canal	HP:0000402
64840	PORCN	Split hand	HP:0001171
64840	PORCN	Hypoplasia of dental enamel	HP:0006297
64840	PORCN	Acute hepatic failure	HP:0006554
64840	PORCN	Mixed hearing impairment	HP:0000410
64840	PORCN	Hand oligodactyly	HP:0001180
64840	PORCN	Hypodontia	HP:0000668
64840	PORCN	Abnormal adipose tissue morphology	HP:0009124
64840	PORCN	Reticular hyperpigmentation	HP:0007588
64840	PORCN	Oligodontia	HP:0000677
64840	PORCN	Short finger	HP:0009381
64840	PORCN	Abnormality of dental enamel	HP:0000682
64840	PORCN	Myelomeningocele	HP:0002475
64840	PORCN	Delayed eruption of teeth	HP:0000684
64840	PORCN	Cleft palate	HP:0000175
64840	PORCN	Dental malocclusion	HP:0000689
64840	PORCN	Patchy alopecia	HP:0002232
64840	PORCN	Macule	HP:0012733
64840	PORCN	Cognitive impairment	HP:0100543
64840	PORCN	Narrow nasal bridge	HP:0000446
64840	PORCN	Thin skin	HP:0000963
64840	PORCN	Papilloma	HP:0012740
64840	PORCN	Duodenal atresia	HP:0002247
64840	PORCN	Broad nasal tip	HP:0000455
64840	PORCN	Subcutaneous nodule	HP:0001482
64840	PORCN	Cleft upper lip	HP:0000204
64840	PORCN	Lower limb asymmetry	HP:0100559
64840	PORCN	Midclavicular hypoplasia	HP:0006608
64840	PORCN	Upper limb asymmetry	HP:0100560
64840	PORCN	Nail dystrophy	HP:0008404
64840	PORCN	Finger syndactyly	HP:0006101
64840	PORCN	Abnormality of hair texture	HP:0010719
64840	PORCN	Intellectual disability	HP:0001249
64840	PORCN	Abnormality of the mediastinum	HP:0045026
64840	PORCN	Short stature	HP:0004322
64840	PORCN	Spina bifida occulta	HP:0003298
64840	PORCN	Gastroesophageal reflux	HP:0002020
64840	PORCN	Strabismus	HP:0000486
64840	PORCN	Renal hypoplasia/aplasia	HP:0008678
64840	PORCN	Telangiectasia of the skin	HP:0100585
64840	PORCN	Abnormality of skin pigmentation	HP:0001000
64840	PORCN	Toe syndactyly	HP:0001770
64840	PORCN	Abdominal pain	HP:0002027
64840	PORCN	Dermal atrophy	HP:0004334
64840	PORCN	Midclavicular aplasia	HP:0006638
64840	PORCN	Hydrocephalus	HP:0000238
64840	PORCN	Reduced visual acuity	HP:0007663
64840	PORCN	Telangiectasia	HP:0001009
64840	PORCN	Hiatus hernia	HP:0002036
64840	PORCN	Osteopathia striata	HP:0010740
64840	PORCN	Short metatarsal	HP:0010743
64840	PORCN	Abnormal palmar dermatoglyphics	HP:0001018
64840	PORCN	Agenesis of corpus callosum	HP:0001274
64840	PORCN	Brittle hair	HP:0002299
64840	PORCN	Hypoplasia of the iris	HP:0007676
64840	PORCN	Microcephaly	HP:0000252
64840	PORCN	Hypoplastic nipples	HP:0002557
64840	PORCN	Supernumerary nipple	HP:0002558
7498	XDH	Abnormality of metabolism/homeostasis	HP:0001939
7498	XDH	Xanthine nephrolithiasis	HP:0000804
7498	XDH	Hyperxanthinemia	HP:0010933
7498	XDH	Xanthinuria	HP:0010934
7498	XDH	Autosomal recessive inheritance	HP:0000007
7498	XDH	Pyelonephritis	HP:0012330
7498	XDH	Hydronephrosis	HP:0000126
7498	XDH	Myopathy	HP:0003198
7498	XDH	Reduced xanthine dehydrogenase activity	HP:0003534
56652	TWNK	Athetosis	HP:0002305
56652	TWNK	Areflexia	HP:0001284
56652	TWNK	Autosomal dominant inheritance	HP:0000006
56652	TWNK	Cataract	HP:0000518
56652	TWNK	Autosomal recessive inheritance	HP:0000007
56652	TWNK	Gait disturbance	HP:0001288
56652	TWNK	Clumsiness	HP:0002312
56652	TWNK	Generalized hypotonia	HP:0001290
56652	TWNK	Cerebral atrophy	HP:0002059
56652	TWNK	Psychomotor retardation	HP:0025356
56652	TWNK	Premature ovarian insufficiency	HP:0008209
56652	TWNK	Nocturia	HP:0000017
56652	TWNK	Gastroparesis	HP:0002578
56652	TWNK	Primary amenorrhea	HP:0000786
56652	TWNK	Gait ataxia	HP:0002066
56652	TWNK	Resting tremor	HP:0002322
56652	TWNK	Encephalopathy	HP:0001298
56652	TWNK	Bradykinesia	HP:0002067
56652	TWNK	Parkinsonism	HP:0001300
56652	TWNK	Migraine	HP:0002076
56652	TWNK	External ophthalmoplegia	HP:0000544
56652	TWNK	Reduced tendon reflexes	HP:0001315
56652	TWNK	Intestinal pseudo-obstruction	HP:0004389
56652	TWNK	Muscle weakness	HP:0001324
56652	TWNK	Respiratory insufficiency	HP:0002093
56652	TWNK	Loss of ability to walk	HP:0006957
56652	TWNK	Hypergonadotropic hypogonadism	HP:0000815
56652	TWNK	Epilepsia partialis continua	HP:0012847
56652	TWNK	Specific learning disability	HP:0001328
56652	TWNK	Poor eye contact	HP:0000817
56652	TWNK	Memory impairment	HP:0002354
56652	TWNK	Diabetes mellitus	HP:0000819
56652	TWNK	Abnormality of the thyroid gland	HP:0000820
56652	TWNK	Hypothyroidism	HP:0000821
56652	TWNK	Frequent falls	HP:0002359
56652	TWNK	Myoclonus	HP:0001336
56652	TWNK	Exertional dyspnea	HP:0002875
56652	TWNK	Easy fatigability	HP:0003388
56652	TWNK	Sensory axonal neuropathy	HP:0003390
56652	TWNK	Muscle spasm	HP:0003394
56652	TWNK	Hyperthyroidism	HP:0000836
56652	TWNK	Facial diplegia	HP:0001349
56652	TWNK	Hypokinesia	HP:0002375
56652	TWNK	Abnormality of the mitochondrion	HP:0012103
56652	TWNK	Progressive gait ataxia	HP:0007240
56652	TWNK	Cerebral cortical atrophy	HP:0002120
56652	TWNK	Progressive external ophthalmoplegia	HP:0000590
56652	TWNK	Dysphonia	HP:0001618
56652	TWNK	Hypomimic face	HP:0000338
56652	TWNK	Ophthalmoparesis	HP:0000597
56652	TWNK	Goiter	HP:0000853
56652	TWNK	Status epilepticus	HP:0002133
56652	TWNK	Fatigue	HP:0012378
56652	TWNK	Ophthalmoplegia	HP:0000602
56652	TWNK	Progressive	HP:0003676
56652	TWNK	Cogwheel rigidity	HP:0002396
56652	TWNK	Elevated hepatic transaminase	HP:0002910
56652	TWNK	Cerebral visual impairment	HP:0100704
56652	TWNK	Positive Romberg sign	HP:0002403
56652	TWNK	Cardiomyopathy	HP:0001638
56652	TWNK	Increased serum lactate	HP:0002151
56652	TWNK	Cytochrome C oxidase-negative muscle fibers	HP:0003688
56652	TWNK	Multiple mitochondrial DNA deletions	HP:0003689
56652	TWNK	Limb muscle weakness	HP:0003690
56652	TWNK	Sensory ataxic neuropathy	HP:0003434
56652	TWNK	Dilated cardiomyopathy	HP:0001644
56652	TWNK	Hearing impairment	HP:0000365
56652	TWNK	Absent Achilles reflex	HP:0003438
56652	TWNK	Proximal muscle weakness	HP:0003701
56652	TWNK	Sensory ataxia	HP:0010871
56652	TWNK	Reduced ejection fraction	HP:0012664
56652	TWNK	Bradycardia	HP:0001662
56652	TWNK	Nystagmus	HP:0000639
56652	TWNK	Ragged-red muscle fibers	HP:0003200
56652	TWNK	Muscle fiber necrosis	HP:0003713
56652	TWNK	EMG: myopathic abnormalities	HP:0003458
56652	TWNK	Focal white matter lesions	HP:0007042
56652	TWNK	Gonadal dysgenesis	HP:0000133
56652	TWNK	Bipolar affective disorder	HP:0007302
56652	TWNK	Hypogonadism	HP:0000135
56652	TWNK	Optic atrophy	HP:0000648
56652	TWNK	Quadriceps muscle weakness	HP:0003731
56652	TWNK	Peripheral axonal neuropathy	HP:0003477
56652	TWNK	Sensorineural hearing impairment	HP:0000407
56652	TWNK	Abnormal thalamic MRI signal intensity	HP:0012696
56652	TWNK	Mitochondrial myopathy	HP:0003737
56652	TWNK	Ketosis	HP:0001946
56652	TWNK	Elevated serum creatine kinase	HP:0003236
56652	TWNK	Palpitations	HP:0001962
56652	TWNK	Bilateral sensorineural hearing impairment	HP:0008619
56652	TWNK	Osteoporosis	HP:0000939
56652	TWNK	Atrophy/Degeneration involving the spinal cord	HP:0007344
56652	TWNK	Left ventricular hypertrophy	HP:0001712
56652	TWNK	Cognitive impairment	HP:0100543
56652	TWNK	Abnormal morphology of the cerebellar cortex	HP:0031422
56652	TWNK	Impaired vibratory sensation	HP:0002495
56652	TWNK	Progressive hearing impairment	HP:0001730
56652	TWNK	Psychosis	HP:0000709
56652	TWNK	Epileptic encephalopathy	HP:0200134
56652	TWNK	Atrophy/Degeneration affecting the brainstem	HP:0007366
56652	TWNK	Edema	HP:0000969
56652	TWNK	Impaired distal proprioception	HP:0006858
56652	TWNK	Depressivity	HP:0000716
56652	TWNK	Ventricular arrhythmia	HP:0004308
56652	TWNK	Dementia	HP:0000726
56652	TWNK	Increased serum pyruvate	HP:0003542
56652	TWNK	Vestibular dysfunction	HP:0001751
56652	TWNK	Exercise intolerance	HP:0003546
56652	TWNK	High palate	HP:0000218
56652	TWNK	Shoulder girdle muscle weakness	HP:0003547
56652	TWNK	Subsarcolemmal accumulations of abnormally shaped mitochondria	HP:0003548
56652	TWNK	Abnormality of the autonomic nervous system	HP:0002270
56652	TWNK	Dysphagia	HP:0002015
56652	TWNK	Difficulty climbing stairs	HP:0003551
56652	TWNK	Pes cavus	HP:0001761
56652	TWNK	Intellectual disability	HP:0001249
56652	TWNK	Seizures	HP:0001250
56652	TWNK	Ataxia	HP:0001251
56652	TWNK	Constipation	HP:0002019
56652	TWNK	Anxiety	HP:0000739
56652	TWNK	Gastroesophageal reflux	HP:0002020
56652	TWNK	Failure to thrive	HP:0001508
56652	TWNK	Muscular hypotonia	HP:0001252
56652	TWNK	Increased variability in muscle fiber diameter	HP:0003557
56652	TWNK	Impaired distal vibration sensation	HP:0006886
56652	TWNK	Lethargy	HP:0001254
56652	TWNK	Dysarthria	HP:0001260
56652	TWNK	Excessive daytime somnolence	HP:0001262
56652	TWNK	Global developmental delay	HP:0001263
56652	TWNK	Hyporeflexia	HP:0001265
56652	TWNK	Diminished ability to concentrate	HP:0031987
56652	TWNK	Upgaze palsy	HP:0025331
56652	TWNK	Mildly elevated creatine kinase	HP:0008180
56652	TWNK	Atrial fibrillation	HP:0005110
56652	TWNK	Cerebellar atrophy	HP:0001272
56652	TWNK	Progressive muscle weakness	HP:0003323
56652	TWNK	Ptosis	HP:0000508
56652	TWNK	Hypertonia	HP:0001276
56652	TWNK	Adult onset	HP:0003581
56652	TWNK	Myalgia	HP:0003326
7503	XIST	Spontaneous abortion	HP:0005268
7504	XK	Rhabdomyolysis	HP:0003201
7504	XK	Anxiety	HP:0000739
7504	XK	Elevated serum creatine kinase	HP:0003236
7504	XK	Areflexia	HP:0001284
7504	XK	Cardiomyopathy	HP:0001638
7504	XK	Acanthocytosis	HP:0001927
7504	XK	X-linked inheritance	HP:0001417
7504	XK	Personality disorder	HP:0012075
7504	XK	Depressivity	HP:0000716
7504	XK	Muscle weakness	HP:0001324
7504	XK	Dysarthria	HP:0001260
7504	XK	Dilated cardiomyopathy	HP:0001644
7504	XK	Obsessive-compulsive behavior	HP:0000722
7504	XK	Dyskinesia	HP:0100660
7504	XK	Generalized-onset seizure	HP:0002197
7504	XK	Atrial fibrillation	HP:0005110
7504	XK	Hepatosplenomegaly	HP:0001433
7504	XK	Motor axonal neuropathy	HP:0007002
7504	XK	Myopathy	HP:0003198
7507	XPA	Poikiloderma	HP:0001029
7507	XPA	Cataract	HP:0000518
7507	XPA	Defective DNA repair after ultraviolet radiation damage	HP:0003079
7507	XPA	Autosomal recessive inheritance	HP:0000007
7507	XPA	Hypogonadism	HP:0000135
7507	XPA	Optic atrophy	HP:0000648
7507	XPA	Hypermelanotic macule	HP:0001034
7507	XPA	Conjunctival telangiectasia	HP:0000524
7507	XPA	Craniofacial hyperostosis	HP:0004493
7507	XPA	Arthralgia	HP:0002829
7507	XPA	Ectropion	HP:0000656
7507	XPA	Sensorineural hearing impairment	HP:0000407
7507	XPA	Abnormality of extrapyramidal motor function	HP:0002071
7507	XPA	Flat nasal alae	HP:0010649
7507	XPA	Fever	HP:0001945
7507	XPA	Aminoaciduria	HP:0003355
7507	XPA	Ankyloblepharon	HP:0009755
7507	XPA	Cryptorchidism	HP:0000028
7507	XPA	Hypopigmented skin patches	HP:0001053
7507	XPA	Decreased testicular size	HP:0008734
7507	XPA	Erythema	HP:0010783
7507	XPA	Reduced tendon reflexes	HP:0001315
7507	XPA	Pterygium	HP:0001059
7507	XPA	Abnormality of the dentition	HP:0000164
7507	XPA	Melanoma	HP:0002861
7507	XPA	Neoplasm of the eye	HP:0100012
7507	XPA	EEG abnormality	HP:0002353
7507	XPA	Alopecia	HP:0001596
7507	XPA	Delayed skeletal maturation	HP:0002750
7507	XPA	Cognitive impairment	HP:0100543
7507	XPA	Dry skin	HP:0000958
7507	XPA	Hyperkeratosis	HP:0000962
7507	XPA	Thin skin	HP:0000963
7507	XPA	Papilloma	HP:0012740
7507	XPA	Developmental regression	HP:0002376
7507	XPA	Freckling	HP:0001480
7507	XPA	Cerebral cortical atrophy	HP:0002120
7507	XPA	Opacification of the corneal stroma	HP:0007759
7507	XPA	Fatigue	HP:0012378
7507	XPA	Cutaneous photosensitivity	HP:0000992
7507	XPA	Intellectual disability	HP:0001249
7507	XPA	Short stature	HP:0004322
7507	XPA	Seizures	HP:0001250
7507	XPA	Ataxia	HP:0001251
7507	XPA	Melanocytic nevus	HP:0000995
7507	XPA	Failure to thrive	HP:0001508
7507	XPA	Photophobia	HP:0000613
7507	XPA	Peripheral neuropathy	HP:0009830
7507	XPA	Strabismus	HP:0000486
7507	XPA	Intellectual disability, progressive	HP:0006887
7507	XPA	Telangiectasia of the skin	HP:0100585
7507	XPA	Spasticity	HP:0001257
7507	XPA	Keratitis	HP:0000491
7507	XPA	Entropion	HP:0000621
7507	XPA	Dermal atrophy	HP:0004334
7507	XPA	Telangiectasia	HP:0001009
7507	XPA	Hyporeflexia	HP:0001265
7507	XPA	Choreoathetosis	HP:0001266
7507	XPA	Blepharitis	HP:0000498
7507	XPA	Mental deterioration	HP:0001268
7507	XPA	Microcephaly	HP:0000252
7507	XPA	Conjunctivitis	HP:0000509
7508	XPC	Poikiloderma	HP:0001029
7508	XPC	Cataract	HP:0000518
7508	XPC	Defective DNA repair after ultraviolet radiation damage	HP:0003079
7508	XPC	Autosomal recessive inheritance	HP:0000007
7508	XPC	Hypogonadism	HP:0000135
7508	XPC	Optic atrophy	HP:0000648
7508	XPC	Hypermelanotic macule	HP:0001034
7508	XPC	Conjunctival telangiectasia	HP:0000524
7508	XPC	Craniofacial hyperostosis	HP:0004493
7508	XPC	Arthralgia	HP:0002829
7508	XPC	Ectropion	HP:0000656
7508	XPC	Sensorineural hearing impairment	HP:0000407
7508	XPC	Abnormality of extrapyramidal motor function	HP:0002071
7508	XPC	Cutaneous melanoma	HP:0012056
7508	XPC	Flat nasal alae	HP:0010649
7508	XPC	Fever	HP:0001945
7508	XPC	Aminoaciduria	HP:0003355
7508	XPC	Ankyloblepharon	HP:0009755
7508	XPC	Cryptorchidism	HP:0000028
7508	XPC	Hypopigmented skin patches	HP:0001053
7508	XPC	Decreased testicular size	HP:0008734
7508	XPC	Erythema	HP:0010783
7508	XPC	Reduced tendon reflexes	HP:0001315
7508	XPC	Pterygium	HP:0001059
7508	XPC	Abnormality of the dentition	HP:0000164
7508	XPC	Neoplasm of the eye	HP:0100012
7508	XPC	Melanoma	HP:0002861
7508	XPC	EEG abnormality	HP:0002353
7508	XPC	Alopecia	HP:0001596
7508	XPC	Delayed skeletal maturation	HP:0002750
7508	XPC	Cognitive impairment	HP:0100543
7508	XPC	Dry skin	HP:0000958
7508	XPC	Hyperkeratosis	HP:0000962
7508	XPC	Thin skin	HP:0000963
7508	XPC	Papilloma	HP:0012740
7508	XPC	Childhood onset	HP:0011463
7508	XPC	Developmental regression	HP:0002376
7508	XPC	Freckling	HP:0001480
7508	XPC	Cerebral cortical atrophy	HP:0002120
7508	XPC	Opacification of the corneal stroma	HP:0007759
7508	XPC	Squamous cell carcinoma of the skin	HP:0006739
7508	XPC	Fatigue	HP:0012378
7508	XPC	Cutaneous photosensitivity	HP:0000992
7508	XPC	Short stature	HP:0004322
7508	XPC	Seizures	HP:0001250
7508	XPC	Melanocytic nevus	HP:0000995
7508	XPC	Ataxia	HP:0001251
7508	XPC	Failure to thrive	HP:0001508
7508	XPC	Photophobia	HP:0000613
7508	XPC	Peripheral neuropathy	HP:0009830
7508	XPC	Strabismus	HP:0000486
7508	XPC	Intellectual disability, progressive	HP:0006887
7508	XPC	Telangiectasia of the skin	HP:0100585
7508	XPC	Spasticity	HP:0001257
7508	XPC	Keratitis	HP:0000491
7508	XPC	Entropion	HP:0000621
7508	XPC	Dermal atrophy	HP:0004334
7508	XPC	Basal cell carcinoma	HP:0002671
7508	XPC	Telangiectasia	HP:0001009
7508	XPC	Hypopigmentation of the skin	HP:0001010
7508	XPC	Blepharitis	HP:0000498
7508	XPC	Microcephaly	HP:0000252
7508	XPC	Conjunctivitis	HP:0000509
64857	PLEKHG2	Intellectual disability, severe	HP:0010864
64857	PLEKHG2	Seizures	HP:0001250
64857	PLEKHG2	Dystonia	HP:0001332
64857	PLEKHG2	Diffuse white matter abnormalities	HP:0007204
64857	PLEKHG2	Autosomal recessive inheritance	HP:0000007
64857	PLEKHG2	Infantile onset	HP:0003593
64857	PLEKHG2	Generalized hypotonia	HP:0001290
64857	PLEKHG2	Postnatal microcephaly	HP:0005484
64857	PLEKHG2	Microcephaly	HP:0000252
64857	PLEKHG2	Leukodystrophy	HP:0002415
64857	PLEKHG2	Global developmental delay	HP:0001263
64857	PLEKHG2	Nystagmus	HP:0000639
7515	XRCC1	Positive Romberg sign	HP:0002403
7515	XRCC1	Areflexia	HP:0001284
7515	XRCC1	Sensorimotor neuropathy	HP:0007141
7515	XRCC1	Autosomal recessive inheritance	HP:0000007
7515	XRCC1	Hypermetric saccades	HP:0007338
7515	XRCC1	Dysarthria	HP:0001260
7515	XRCC1	Unsteady gait	HP:0002317
7515	XRCC1	Oculomotor apraxia	HP:0000657
7515	XRCC1	Limb ataxia	HP:0002070
7515	XRCC1	Distal sensory impairment	HP:0002936
7515	XRCC1	Cerebellar atrophy	HP:0001272
7515	XRCC1	Dysdiadochokinesis	HP:0002075
7515	XRCC1	Progressive	HP:0003676
7515	XRCC1	Dysmetria	HP:0001310
7515	XRCC1	Nystagmus	HP:0000639
7516	XRCC2	Umbilical hernia	HP:0001537
7516	XRCC2	Duodenal stenosis	HP:0100867
7516	XRCC2	Cataract	HP:0000518
7516	XRCC2	Autosomal recessive inheritance	HP:0000007
7516	XRCC2	Hypogonadism	HP:0000135
7516	XRCC2	Abnormality of femur morphology	HP:0002823
7516	XRCC2	Proptosis	HP:0000520
7516	XRCC2	Decreased fertility in males	HP:0012041
7516	XRCC2	Recurrent urinary tract infections	HP:0000010
7516	XRCC2	Hip dislocation	HP:0002827
7516	XRCC2	Dolichocephaly	HP:0000268
7516	XRCC2	Multiple cafe-au-lait spots	HP:0007565
7516	XRCC2	Tracheoesophageal fistula	HP:0002575
7516	XRCC2	Abnormal aortic morphology	HP:0001679
7516	XRCC2	Pyridoxine-responsive sideroblastic anemia	HP:0005522
7516	XRCC2	Abnormality of chromosome stability	HP:0003220
7516	XRCC2	Clubbing of toes	HP:0100760
7516	XRCC2	Oligohydramnios	HP:0001562
7516	XRCC2	Azoospermia	HP:0000027
7516	XRCC2	Cryptorchidism	HP:0000028
7516	XRCC2	Hypopigmented skin patches	HP:0001053
7516	XRCC2	Epicanthus	HP:0000286
7516	XRCC2	Decreased testicular size	HP:0008734
7516	XRCC2	Weight loss	HP:0001824
7516	XRCC2	Cranial nerve paralysis	HP:0006824
7516	XRCC2	Bicornuate uterus	HP:0000813
7516	XRCC2	Myelodysplasia	HP:0002863
7516	XRCC2	Cleft palate	HP:0000175
7516	XRCC2	Triphalangeal thumb	HP:0001199
7516	XRCC2	Hypospadias	HP:0000047
7516	XRCC2	Aplasia/Hypoplasia of the uvula	HP:0010293
7516	XRCC2	Microphthalmia	HP:0000568
7516	XRCC2	Non-obstructive azoospermia	HP:0011961
7516	XRCC2	Obstructive azoospermia	HP:0011962
7516	XRCC2	Absent scaphoid	HP:0011835
7516	XRCC2	Arteriovenous malformation	HP:0100026
7516	XRCC2	Hypertelorism	HP:0000316
7516	XRCC2	Abnormal localization of kidney	HP:0100542
7516	XRCC2	Almond-shaped palpebral fissure	HP:0007874
7516	XRCC2	Hyperreflexia	HP:0001347
7516	XRCC2	Facial asymmetry	HP:0000324
7516	XRCC2	Meckel diverticulum	HP:0002245
7516	XRCC2	Choanal atresia	HP:0000453
7516	XRCC2	Increased circulating gonadotropin level	HP:0000837
7516	XRCC2	Upslanted palpebral fissure	HP:0000582
7516	XRCC2	Ventriculomegaly	HP:0002119
7516	XRCC2	Hydroureter	HP:0000072
7516	XRCC2	Short palpebral fissure	HP:0012745
7516	XRCC2	Aganglionic megacolon	HP:0002251
7516	XRCC2	Hypoplasia of the ulna	HP:0003022
7516	XRCC2	Thrombocytopenia	HP:0001873
7516	XRCC2	Renal insufficiency	HP:0000083
7516	XRCC2	Sloping forehead	HP:0000340
7516	XRCC2	Finger syndactyly	HP:0006101
7516	XRCC2	Frontal bossing	HP:0002007
7516	XRCC2	Scoliosis	HP:0002650
7516	XRCC2	Leukopenia	HP:0001882
7516	XRCC2	High palate	HP:0000218
7516	XRCC2	Micrognathia	HP:0000347
7516	XRCC2	Atrial septal defect	HP:0001631
7516	XRCC2	Abnormal carotid artery morphology	HP:0005344
7516	XRCC2	Abnormality of the hypothalamus-pituitary axis	HP:0000864
7516	XRCC2	Intellectual disability	HP:0001249
7516	XRCC2	Short stature	HP:0004322
7516	XRCC2	Pes planus	HP:0001763
7516	XRCC2	Astigmatism	HP:0000483
7516	XRCC2	Tetralogy of Fallot	HP:0001636
7516	XRCC2	Absent testis	HP:0010469
7516	XRCC2	Aplasia/Hypoplasia of the radius	HP:0006501
7516	XRCC2	Growth delay	HP:0001510
7516	XRCC2	Renal hypoplasia/aplasia	HP:0008678
7516	XRCC2	Strabismus	HP:0000486
7516	XRCC2	Anal atresia	HP:0002023
7516	XRCC2	Intrauterine growth retardation	HP:0001511
7516	XRCC2	Hypertrophic cardiomyopathy	HP:0001639
7516	XRCC2	Irregular hyperpigmentation	HP:0007400
7516	XRCC2	Toe syndactyly	HP:0001770
7516	XRCC2	Abnormality of the preputium	HP:0100587
7516	XRCC2	Patent ductus arteriosus	HP:0001643
7516	XRCC2	Hearing impairment	HP:0000365
7516	XRCC2	Abnormal aortic valve morphology	HP:0001646
7516	XRCC2	Spina bifida	HP:0002414
7516	XRCC2	Hydrocephalus	HP:0000238
7516	XRCC2	Global developmental delay	HP:0001263
7516	XRCC2	Abnormality of the liver	HP:0001392
7516	XRCC2	Clinodactyly of the 5th finger	HP:0004209
7516	XRCC2	Aplasia/Hypoplasia of the iris	HP:0008053
7516	XRCC2	Visual impairment	HP:0000505
7516	XRCC2	Aplasia/Hypoplasia of fingers	HP:0006265
7516	XRCC2	Microcephaly	HP:0000252
7516	XRCC2	Ptosis	HP:0000508
7516	XRCC2	External ear malformation	HP:0008572
7516	XRCC2	Reduced bone mineral density	HP:0004349
7516	XRCC2	Nystagmus	HP:0000639
7518	XRCC4	Primary gonadal insufficiency	HP:0008193
7518	XRCC4	Clinodactyly	HP:0030084
7518	XRCC4	Cataract	HP:0000518
7518	XRCC4	Autosomal recessive inheritance	HP:0000007
7518	XRCC4	Apraxia	HP:0002186
7518	XRCC4	Long face	HP:0000276
7518	XRCC4	Abnormality of chromosome stability	HP:0003220
7518	XRCC4	Sensorineural hearing impairment	HP:0000407
7518	XRCC4	Simplified gyral pattern	HP:0009879
7518	XRCC4	Inguinal hernia	HP:0000023
7518	XRCC4	Dysdiadochokinesis	HP:0002075
7518	XRCC4	Cryptorchidism	HP:0000028
7518	XRCC4	Lymphadenopathy	HP:0002716
7518	XRCC4	Retinal detachment	HP:0000541
7518	XRCC4	Dysmetria	HP:0001310
7518	XRCC4	Epicanthus	HP:0000286
7518	XRCC4	Erythema	HP:0010783
7518	XRCC4	Hypoplasia of penis	HP:0008736
7518	XRCC4	Truncal obesity	HP:0001956
7518	XRCC4	Low anterior hairline	HP:0000294
7518	XRCC4	Prominent nasal bridge	HP:0000426
7518	XRCC4	Abnormal circulating lipid concentration	HP:0003119
7518	XRCC4	Wide nasal bridge	HP:0000431
7518	XRCC4	Diabetes mellitus	HP:0000819
7518	XRCC4	Misalignment of teeth	HP:0000692
7518	XRCC4	Hypothyroidism	HP:0000821
7518	XRCC4	Micropenis	HP:0000054
7518	XRCC4	Leukocytosis	HP:0001974
7518	XRCC4	Acute leukemia	HP:0002488
7518	XRCC4	Severe short-limb dwarfism	HP:0008890
7518	XRCC4	Convex nasal ridge	HP:0000444
7518	XRCC4	Acanthosis nigricans	HP:0000956
7518	XRCC4	Cognitive impairment	HP:0100543
7518	XRCC4	Insulin-resistant diabetes mellitus	HP:0000831
7518	XRCC4	Hepatomegaly	HP:0002240
7518	XRCC4	Bird-like facies	HP:0000320
7518	XRCC4	Congenital blindness	HP:0007875
7518	XRCC4	Triangular face	HP:0000325
7518	XRCC4	Biparietal narrowing	HP:0004422
7518	XRCC4	Upslanted palpebral fissure	HP:0000582
7518	XRCC4	Ventriculomegaly	HP:0002119
7518	XRCC4	Cerebellar vermis atrophy	HP:0006855
7518	XRCC4	Broad nasal tip	HP:0000455
7518	XRCC4	Short chin	HP:0000331
7518	XRCC4	Severe combined immunodeficiency	HP:0004430
7518	XRCC4	Sloping forehead	HP:0000340
7518	XRCC4	High pitched voice	HP:0001620
7518	XRCC4	Pancytopenia	HP:0001876
7518	XRCC4	Ectopic kidney	HP:0000086
7518	XRCC4	Insulin resistance	HP:0000855
7518	XRCC4	Broad-based gait	HP:0002136
7518	XRCC4	Hypotelorism	HP:0000601
7518	XRCC4	Renal hypoplasia	HP:0000089
7518	XRCC4	Type II diabetes mellitus	HP:0005978
7518	XRCC4	Micrognathia	HP:0000347
7518	XRCC4	High forehead	HP:0000348
7518	XRCC4	Lymphopenia	HP:0001888
7518	XRCC4	Cutaneous photosensitivity	HP:0000992
7518	XRCC4	Pes cavus	HP:0001761
7518	XRCC4	Intellectual disability	HP:0001249
7518	XRCC4	Limb undergrowth	HP:0009826
7518	XRCC4	Short stature	HP:0004322
7518	XRCC4	Large beaked nose	HP:0003683
7518	XRCC4	Growth delay	HP:0001510
7518	XRCC4	Intrauterine growth retardation	HP:0001511
7518	XRCC4	Malabsorption	HP:0002024
7518	XRCC4	Telangiectasia of the skin	HP:0100585
7518	XRCC4	Thin vermilion border	HP:0000233
7518	XRCC4	Lymphoma	HP:0002665
7518	XRCC4	Deeply set eye	HP:0000490
7518	XRCC4	Hypertriglyceridemia	HP:0002155
7518	XRCC4	Dilated cardiomyopathy	HP:0001644
7518	XRCC4	Dysarthria	HP:0001260
7518	XRCC4	Delayed speech and language development	HP:0000750
7518	XRCC4	Global developmental delay	HP:0001263
7518	XRCC4	Anemia	HP:0001903
7518	XRCC4	Clinodactyly of the 5th finger	HP:0004209
7518	XRCC4	Long nose	HP:0003189
7518	XRCC4	Hepatic steatosis	HP:0001397
7518	XRCC4	Brachycephaly	HP:0000248
7518	XRCC4	Unilateral renal agenesis	HP:0000122
7518	XRCC4	Telecanthus	HP:0000506
7518	XRCC4	Sensory neuropathy	HP:0000763
7518	XRCC4	Microcephaly	HP:0000252
7518	XRCC4	Malar prominence	HP:0010620
7518	XRCC4	Nystagmus	HP:0000639
286053	NSMCE2	Elevated circulating luteinizing hormone level	HP:0011969
286053	NSMCE2	Primary gonadal insufficiency	HP:0008193
286053	NSMCE2	Congenital blindness	HP:0007875
286053	NSMCE2	Glycosuria	HP:0003076
286053	NSMCE2	Acute pancreatitis	HP:0001735
286053	NSMCE2	Autosomal recessive inheritance	HP:0000007
286053	NSMCE2	Metaphyseal widening	HP:0003016
286053	NSMCE2	Cone-shaped epiphysis	HP:0010579
286053	NSMCE2	Elevated serum aspartate aminotransferase	HP:0031956
286053	NSMCE2	Micrognathia	HP:0000347
286053	NSMCE2	Slender long bone	HP:0003100
286053	NSMCE2	Elevated serum alanine aminotransferase	HP:0031964
286053	NSMCE2	Retinal detachment	HP:0000541
286053	NSMCE2	Glucose intolerance	HP:0001952
286053	NSMCE2	Congestive heart failure	HP:0001635
286053	NSMCE2	Elevated circulating follicle stimulating hormone level	HP:0008232
286053	NSMCE2	Hypertriglyceridemia	HP:0002155
286053	NSMCE2	Skin tags	HP:0010609
286053	NSMCE2	Ventricular hypertrophy	HP:0001714
286053	NSMCE2	Diabetes mellitus	HP:0000819
286053	NSMCE2	Microretrognathia	HP:0000308
286053	NSMCE2	Hepatic steatosis	HP:0001397
286053	NSMCE2	Hypertension	HP:0000822
286053	NSMCE2	Abdominal aortic aneurysm	HP:0005112
286053	NSMCE2	Severe short-limb dwarfism	HP:0008890
286053	NSMCE2	Acanthosis nigricans	HP:0000956
286053	NSMCE2	Microcephaly	HP:0000252
286053	NSMCE2	Malar prominence	HP:0010620
286053	NSMCE2	Insulin-resistant diabetes mellitus	HP:0000831
163175	LGI4	EMG abnormality	HP:0003457
163175	LGI4	Ankle contracture	HP:0006466
163175	LGI4	Internally rotated shoulders	HP:0006659
163175	LGI4	Areflexia	HP:0001284
163175	LGI4	Fetal akinesia sequence	HP:0001989
163175	LGI4	Autosomal recessive inheritance	HP:0000007
163175	LGI4	Hip contracture	HP:0003273
163175	LGI4	Generalized hypotonia	HP:0001290
163175	LGI4	Narrow forehead	HP:0000341
163175	LGI4	Retrognathia	HP:0000278
163175	LGI4	High palate	HP:0000218
163175	LGI4	Protruding ear	HP:0000411
163175	LGI4	Micrognathia	HP:0000347
163175	LGI4	Limitation of joint mobility	HP:0001376
163175	LGI4	Camptodactyly	HP:0012385
163175	LGI4	Seizures	HP:0001250
163175	LGI4	Talipes equinovarus	HP:0001762
163175	LGI4	Reduced tendon reflexes	HP:0001315
163175	LGI4	Muscular hypotonia	HP:0001252
163175	LGI4	Dental crowding	HP:0000678
163175	LGI4	Pulmonary hypoplasia	HP:0002089
163175	LGI4	Scapular winging	HP:0003691
163175	LGI4	Elbow flexion contracture	HP:0002987
163175	LGI4	Knee flexion contracture	HP:0006380
163175	LGI4	Respiratory distress	HP:0002098
163175	LGI4	Arthrogryposis multiplex congenita	HP:0002804
163175	LGI4	Distal arthrogryposis	HP:0005684
163175	LGI4	Esotropia	HP:0000565
163175	LGI4	Poor head control	HP:0002421
163175	LGI4	Congenital onset	HP:0003577
163175	LGI4	Ptosis	HP:0000508
7528	YY1	Delayed myelination	HP:0012448
7528	YY1	Intellectual disability	HP:0001249
7528	YY1	Facial asymmetry	HP:0000324
7528	YY1	Abnormality of the cerebral white matter	HP:0002500
7528	YY1	Strabismus	HP:0000486
7528	YY1	Long fingers	HP:0100807
7528	YY1	Posteriorly rotated ears	HP:0000358
7528	YY1	Ventriculomegaly	HP:0002119
7528	YY1	Joint laxity	HP:0001388
7528	YY1	Delayed speech and language development	HP:0000750
7528	YY1	Downslanted palpebral fissures	HP:0000494
7528	YY1	Global developmental delay	HP:0001263
7528	YY1	Malar flattening	HP:0000272
7528	YY1	Broad forehead	HP:0000337
7528	YY1	Thick lower lip vermilion	HP:0000179
7528	YY1	Waddling gait	HP:0002515
7528	YY1	Pointed chin	HP:0000307
7528	YY1	Dystonia	HP:0001332
7528	YY1	Periorbital fullness	HP:0000629
7528	YY1	Abnormality of the pinna	HP:0000377
7528	YY1	Tremor	HP:0001337
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
7531	YWHAE	Sacral dimple	HP:0000960
7531	YWHAE	Omphalocele	HP:0001539
7531	YWHAE	Ventriculomegaly	HP:0002119
7531	YWHAE	Cerebral cortical atrophy	HP:0002120
7531	YWHAE	Anteverted nares	HP:0000463
7531	YWHAE	Short neck	HP:0000470
7531	YWHAE	Frontal bossing	HP:0002007
7531	YWHAE	Inguinal hernia	HP:0000023
7531	YWHAE	Polyhydramnios	HP:0001561
7531	YWHAE	Abnormality of the cardiovascular system	HP:0001626
7531	YWHAE	High palate	HP:0000218
7531	YWHAE	High forehead	HP:0000348
7531	YWHAE	Epicanthus	HP:0000286
7531	YWHAE	Congenital hip dislocation	HP:0001374
7531	YWHAE	Hypoplasia of the corpus callosum	HP:0002079
7531	YWHAE	Hypoplasia of penis	HP:0008736
7531	YWHAE	Narrow mouth	HP:0000160
7531	YWHAE	Seizures	HP:0001250
7531	YWHAE	Tall stature	HP:0000098
7531	YWHAE	Ataxia	HP:0001251
7531	YWHAE	Muscular hypotonia	HP:0001252
7531	YWHAE	Growth delay	HP:0001510
7531	YWHAE	Downslanted palpebral fissures	HP:0000494
7531	YWHAE	Global developmental delay	HP:0001263
7531	YWHAE	Nephropathy	HP:0000112
7531	YWHAE	Clinodactyly of the 5th finger	HP:0004209
7531	YWHAE	EEG abnormality	HP:0002353
7531	YWHAE	Abnormality of upper lip	HP:0000177
7531	YWHAE	Low-set ears	HP:0000369
7531	YWHAE	Lissencephaly	HP:0001339
7531	YWHAE	Short nose	HP:0003196
7531	YWHAE	Hypertelorism	HP:0000316
7531	YWHAE	Wide nose	HP:0000445
56683	CFAP298	Situs inversus totalis	HP:0001696
56683	CFAP298	Rhinitis	HP:0012384
56683	CFAP298	Absent outer dynein arms	HP:0012256
56683	CFAP298	Recurrent sinusitis	HP:0011108
56683	CFAP298	Autosomal recessive inheritance	HP:0000007
56683	CFAP298	Ciliary dyskinesia	HP:0012265
56683	CFAP298	Respiratory insufficiency due to defective ciliary clearance	HP:0200073
56683	CFAP298	Reduced sperm motility	HP:0012207
56683	CFAP298	Recurrent otitis media	HP:0000403
56683	CFAP298	Infertility	HP:0000789
56683	CFAP298	Chronic bronchitis	HP:0004469
56683	CFAP298	Recurrent respiratory infections	HP:0002205
56683	CFAP298	Bronchiectasis	HP:0002110
7532	YWHAG	Feeding difficulties	HP:0011968
7532	YWHAG	Poor coordination	HP:0002370
7532	YWHAG	Obsessive-compulsive trait	HP:0008770
7532	YWHAG	Optic atrophy	HP:0000648
7532	YWHAG	Developmental regression	HP:0002376
7532	YWHAG	Infantile onset	HP:0003593
7532	YWHAG	Generalized hypotonia	HP:0001290
7532	YWHAG	Cerebral atrophy	HP:0002059
7532	YWHAG	Limb hypertonia	HP:0002509
7532	YWHAG	Autism	HP:0000717
7532	YWHAG	Unsteady gait	HP:0002317
7532	YWHAG	Rigidity	HP:0002063
7532	YWHAG	Encephalopathy	HP:0001298
7532	YWHAG	Status epilepticus	HP:0002133
7532	YWHAG	Decreased fetal movement	HP:0001558
7532	YWHAG	Broad-based gait	HP:0002136
7532	YWHAG	Hypsarrhythmia	HP:0002521
7532	YWHAG	High forehead	HP:0000348
7532	YWHAG	EEG with multifocal slow activity	HP:0010844
7532	YWHAG	Hypodontia	HP:0000668
7532	YWHAG	Abnormal myelination	HP:0012447
7532	YWHAG	Intellectual disability	HP:0001249
7532	YWHAG	Short stature	HP:0004322
7532	YWHAG	Retinal degeneration	HP:0000546
7532	YWHAG	Ataxia	HP:0001251
7532	YWHAG	Anxiety	HP:0000739
7532	YWHAG	Gastroesophageal reflux	HP:0002020
7532	YWHAG	Failure to thrive	HP:0001508
7532	YWHAG	Impulsivity	HP:0100710
7532	YWHAG	Spasticity	HP:0001257
7532	YWHAG	Attention deficit hyperactivity disorder	HP:0007018
7532	YWHAG	Downslanted palpebral fissures	HP:0000494
7532	YWHAG	Delayed speech and language development	HP:0000750
7532	YWHAG	Global developmental delay	HP:0001263
7532	YWHAG	Hyporeflexia	HP:0001265
7532	YWHAG	EEG abnormality	HP:0002353
7532	YWHAG	Difficulty walking	HP:0002355
7532	YWHAG	Mental deterioration	HP:0001268
7532	YWHAG	Poor head control	HP:0002421
7532	YWHAG	Dyskinesia	HP:0100660
7532	YWHAG	Myoclonus	HP:0001336
7532	YWHAG	Abnormality of vision	HP:0000504
7532	YWHAG	Tremor	HP:0001337
7532	YWHAG	Abnormal corpus callosum morphology	HP:0001273
7532	YWHAG	Microcephaly	HP:0000252
7532	YWHAG	Ptosis	HP:0000508
7532	YWHAG	Nystagmus	HP:0000639
163183	SYNE4	Autosomal recessive inheritance	HP:0000007
163183	SYNE4	Progressive sensorineural hearing impairment	HP:0000408
7535	ZAP70	Hepatomegaly	HP:0002240
7535	ZAP70	Panhypogammaglobulinemia	HP:0003139
7535	ZAP70	Minimal change glomerulonephritis	HP:0012579
7535	ZAP70	Failure to thrive	HP:0001508
7535	ZAP70	Nephrotic syndrome	HP:0000100
7535	ZAP70	Autosomal recessive inheritance	HP:0000007
7535	ZAP70	Infantile onset	HP:0003593
7535	ZAP70	Pneumonia	HP:0002090
7535	ZAP70	Splenomegaly	HP:0001744
7535	ZAP70	Eczematoid dermatitis	HP:0000976
7535	ZAP70	Autoimmunity	HP:0002960
7535	ZAP70	Recurrent candida infections	HP:0005401
7535	ZAP70	Proteinuria	HP:0000093
7535	ZAP70	Diarrhea	HP:0002014
114034	TOE1	Absent speech	HP:0001344
114034	TOE1	Hyperreflexia	HP:0001347
114034	TOE1	Autosomal recessive inheritance	HP:0000007
114034	TOE1	Optic atrophy	HP:0000648
114034	TOE1	Generalized hypotonia	HP:0001290
114034	TOE1	Cerebral atrophy	HP:0002059
114034	TOE1	Hypoplasia of the pons	HP:0012110
114034	TOE1	Macrotia	HP:0000400
114034	TOE1	Oculomotor apraxia	HP:0000657
114034	TOE1	Thick upper lip vermilion	HP:0000215
114034	TOE1	Micrognathia	HP:0000347
114034	TOE1	Epicanthus	HP:0000286
114034	TOE1	Hypoplasia of the corpus callosum	HP:0002079
114034	TOE1	Depressed nasal bridge	HP:0005280
114034	TOE1	Sporadic	HP:0003745
114034	TOE1	Seizures	HP:0001250
114034	TOE1	Cerebellar hypoplasia	HP:0001321
114034	TOE1	Spastic paraplegia	HP:0001258
114034	TOE1	Global developmental delay	HP:0001263
114034	TOE1	Wide nasal bridge	HP:0000431
114034	TOE1	Micropenis	HP:0000054
114034	TOE1	Myoclonus	HP:0001336
114034	TOE1	Apnea	HP:0002104
114034	TOE1	Congenital onset	HP:0003577
114034	TOE1	Progressive microcephaly	HP:0000253
114034	TOE1	Ambiguous genitalia	HP:0000062
114034	TOE1	Nystagmus	HP:0000639
7545	ZIC1	Macrocephaly	HP:0000256
7545	ZIC1	Brachydactyly	HP:0001156
7545	ZIC1	Arnold-Chiari malformation	HP:0002308
7545	ZIC1	Facial asymmetry	HP:0000324
7545	ZIC1	Autosomal dominant inheritance	HP:0000006
7545	ZIC1	Turricephaly	HP:0000262
7545	ZIC1	Oxycephaly	HP:0000263
7545	ZIC1	Proptosis	HP:0000520
7545	ZIC1	Generalized hypotonia	HP:0001290
7545	ZIC1	Plagiocephaly	HP:0001357
7545	ZIC1	Delayed cranial suture closure	HP:0000270
7545	ZIC1	Broad forehead	HP:0000337
7545	ZIC1	Craniosynostosis	HP:0001363
7545	ZIC1	Increased intracranial pressure	HP:0002516
7545	ZIC1	Sensorineural hearing impairment	HP:0000407
7545	ZIC1	Frontal bossing	HP:0002007
7545	ZIC1	Midface retrusion	HP:0011800
7545	ZIC1	Coronal craniosynostosis	HP:0004440
7545	ZIC1	Dandy-Walker malformation	HP:0001305
7545	ZIC1	Sagittal craniosynostosis	HP:0004442
7545	ZIC1	Scoliosis	HP:0002650
7545	ZIC1	Lambdoidal craniosynostosis	HP:0004443
7545	ZIC1	High forehead	HP:0000348
7545	ZIC1	Intellectual disability	HP:0001249
7545	ZIC1	Spina bifida occulta	HP:0003298
7545	ZIC1	Underdeveloped supraorbital ridges	HP:0009891
7545	ZIC1	Visual field defect	HP:0001123
7545	ZIC1	Metacarpal synostosis	HP:0009701
7545	ZIC1	Intellectual disability, moderate	HP:0002342
7545	ZIC1	Strabismus	HP:0000486
7545	ZIC1	Low anterior hairline	HP:0000294
7545	ZIC1	Hearing impairment	HP:0000365
7545	ZIC1	Global developmental delay	HP:0001263
7545	ZIC1	Intellectual disability, severe	HP:0010864
7545	ZIC1	Brachycephaly	HP:0000248
7545	ZIC1	Cerebellar atrophy	HP:0001272
7545	ZIC1	Agenesis of corpus callosum	HP:0001274
7545	ZIC1	Hypertelorism	HP:0000316
7545	ZIC1	Microcephaly	HP:0000252
7545	ZIC1	Ptosis	HP:0000508
7545	ZIC1	Papilledema	HP:0001085
286077	FAM83H	Amelogenesis imperfecta	HP:0000705
286077	FAM83H	Dental malocclusion	HP:0000689
286077	FAM83H	Autosomal dominant inheritance	HP:0000006
286077	FAM83H	Anterior open bite	HP:0200095
7546	ZIC2	Short philtrum	HP:0000322
7546	ZIC2	EMG: myopathic abnormalities	HP:0003458
7546	ZIC2	Hemangioma	HP:0001028
7546	ZIC2	Choanal atresia	HP:0000453
7546	ZIC2	Autosomal dominant inheritance	HP:0000006
7546	ZIC2	Upslanted palpebral fissure	HP:0000582
7546	ZIC2	Duodenal atresia	HP:0002247
7546	ZIC2	Maternal diabetes	HP:0009800
7546	ZIC2	Oral cleft	HP:0000202
7546	ZIC2	Abnormal facial shape	HP:0001999
7546	ZIC2	Anteverted nares	HP:0000463
7546	ZIC2	Holoprosencephaly	HP:0001360
7546	ZIC2	Macrotia	HP:0000400
7546	ZIC2	Broad forehead	HP:0000337
7546	ZIC2	Midnasal stenosis	HP:0010644
7546	ZIC2	Narrow forehead	HP:0000341
7546	ZIC2	Premature birth	HP:0001622
7546	ZIC2	Synophrys	HP:0000664
7546	ZIC2	Hypotelorism	HP:0000601
7546	ZIC2	High palate	HP:0000218
7546	ZIC2	Scoliosis	HP:0002650
7546	ZIC2	Depressed nasal bridge	HP:0005280
7546	ZIC2	Hypoplasia of penis	HP:0008736
7546	ZIC2	Intellectual disability	HP:0001249
7546	ZIC2	Short stature	HP:0004322
7546	ZIC2	Seizures	HP:0001250
7546	ZIC2	Iris coloboma	HP:0000612
7546	ZIC2	Tetralogy of Fallot	HP:0001636
7546	ZIC2	Strabismus	HP:0000486
7546	ZIC2	Panhypopituitarism	HP:0000871
7546	ZIC2	Intrauterine growth retardation	HP:0001511
7546	ZIC2	Renal agenesis	HP:0000104
7546	ZIC2	Single median maxillary incisor	HP:0006315
7546	ZIC2	Hydrocephalus	HP:0000238
7546	ZIC2	Global developmental delay	HP:0001263
7546	ZIC2	Cleft palate	HP:0000175
7546	ZIC2	Trigonocephaly	HP:0000243
7546	ZIC2	Asthma	HP:0002099
7546	ZIC2	Tented upper lip vermilion	HP:0010804
7546	ZIC2	Hypothyroidism	HP:0000821
7546	ZIC2	Cyclopia	HP:0009914
7546	ZIC2	Agenesis of corpus callosum	HP:0001274
7546	ZIC2	Microcephaly	HP:0000252
7546	ZIC2	Hypertelorism	HP:0000316
7546	ZIC2	Short nose	HP:0003196
7546	ZIC2	Narrow nasal bridge	HP:0000446
7546	ZIC2	Ambiguous genitalia	HP:0000062
7547	ZIC3	Omphalocele	HP:0001539
7547	ZIC3	Urethral atresia	HP:0000068
7547	ZIC3	Transposition of the great arteries	HP:0001669
7547	ZIC3	Absent radius	HP:0003974
7547	ZIC3	Hand polydactyly	HP:0001161
7547	ZIC3	X-linked recessive inheritance	HP:0001419
7547	ZIC3	Abnormal vertebral morphology	HP:0003468
7547	ZIC3	Tracheoesophageal fistula	HP:0002575
7547	ZIC3	Asplenia	HP:0001746
7547	ZIC3	Polysplenia	HP:0001748
7547	ZIC3	Horseshoe kidney	HP:0000085
7547	ZIC3	Single ventricle	HP:0001750
7547	ZIC3	Proximal placement of thumb	HP:0009623
7547	ZIC3	Abnormality of cardiovascular system morphology	HP:0030680
7547	ZIC3	Posteriorly placed anus	HP:0012890
7547	ZIC3	Abnormality of the vertebral column	HP:0000925
7547	ZIC3	Ventricular septal defect	HP:0001629
7547	ZIC3	Atrial septal defect	HP:0001631
7547	ZIC3	Short humerus	HP:0005792
7547	ZIC3	Abdominal situs inversus	HP:0003363
7547	ZIC3	Failure to thrive	HP:0001508
7547	ZIC3	Phenotypic variability	HP:0003812
7547	ZIC3	Anal atresia	HP:0002023
7547	ZIC3	Atrioventricular canal defect	HP:0006695
7547	ZIC3	Cardiomegaly	HP:0001640
7547	ZIC3	Renal agenesis	HP:0000104
7547	ZIC3	Mitral atresia	HP:0011560
7547	ZIC3	Enlarged kidney	HP:0000105
7547	ZIC3	Pulmonic stenosis	HP:0001642
7547	ZIC3	Patent ductus arteriosus	HP:0001643
7547	ZIC3	Isomerism	HP:0031853
7547	ZIC3	Common atrium	HP:0011565
7547	ZIC3	Hydrocephalus	HP:0000238
7547	ZIC3	Low-set ears	HP:0000369
7547	ZIC3	Dextrocardia	HP:0001651
7547	ZIC3	Double outlet right ventricle	HP:0001719
7547	ZIC3	Hypertelorism	HP:0000316
7547	ZIC3	Hydronephrosis	HP:0000126
56704	JPH1	Talipes equinovarus	HP:0001762
56704	JPH1	Areflexia	HP:0001284
56704	JPH1	Autosomal dominant inheritance	HP:0000006
56704	JPH1	Decreased motor nerve conduction velocity	HP:0003431
56704	JPH1	Autosomal recessive inheritance	HP:0000007
56704	JPH1	Infantile onset	HP:0003593
56704	JPH1	Distal amyotrophy	HP:0003693
56704	JPH1	Heterogeneous	HP:0001425
56704	JPH1	Split hand	HP:0001171
56704	JPH1	Decreased number of peripheral myelinated nerve fibers	HP:0003380
56704	JPH1	Proximal muscle weakness	HP:0003701
56704	JPH1	Distal sensory impairment	HP:0002936
56704	JPH1	Axonal regeneration	HP:0003450
56704	JPH1	Distal muscle weakness	HP:0002460
56704	JPH1	Kyphoscoliosis	HP:0002751
7552	ZNF711	Intellectual disability	HP:0001249
7552	ZNF711	Long face	HP:0000276
7552	ZNF711	Intellectual disability, moderate	HP:0002342
7552	ZNF711	Motor delay	HP:0001270
7552	ZNF711	X-linked inheritance	HP:0001417
7552	ZNF711	Broad face	HP:0000283
7552	ZNF711	Delayed speech and language development	HP:0000750
7555	CNBP	Decreased circulating total IgM	HP:0002850
7555	CNBP	Type 2 muscle fiber atrophy	HP:0003554
7555	CNBP	Elevated serum creatine kinase	HP:0003236
7555	CNBP	Cataract	HP:0000518
7555	CNBP	Autosomal dominant inheritance	HP:0000006
7555	CNBP	Hypogonadism	HP:0000135
7555	CNBP	Elevated circulating follicle stimulating hormone level	HP:0008232
7555	CNBP	Neck flexor weakness	HP:0003722
7555	CNBP	Palpitations	HP:0001962
7555	CNBP	Iridescent posterior subcapsular cataract	HP:0007889
7555	CNBP	Tachycardia	HP:0001649
7555	CNBP	Diabetes mellitus	HP:0000819
7555	CNBP	Frontal balding	HP:0002292
7555	CNBP	Proximal muscle weakness	HP:0003701
7555	CNBP	Myotonia	HP:0002486
7555	CNBP	Decreased circulating IgG level	HP:0004315
7555	CNBP	Insulin insensitivity	HP:0008189
7555	CNBP	Oligospermia	HP:0000798
7555	CNBP	Myalgia	HP:0003326
64919	BCL11B	Delayed ability to walk	HP:0031936
64919	BCL11B	Absent speech	HP:0001344
64919	BCL11B	Umbilical hernia	HP:0001537
64919	BCL11B	Short philtrum	HP:0000322
64919	BCL11B	Upslanted palpebral fissure	HP:0000582
64919	BCL11B	Autosomal dominant inheritance	HP:0000006
64919	BCL11B	Short palpebral fissure	HP:0012745
64919	BCL11B	Myopathic facies	HP:0002058
64919	BCL11B	Generalized hypotonia	HP:0001290
64919	BCL11B	Unsteady gait	HP:0002317
64919	BCL11B	Cutis laxa	HP:0000973
64919	BCL11B	Spastic tetraplegia	HP:0002510
64919	BCL11B	Severe combined immunodeficiency	HP:0004430
64919	BCL11B	Thin eyebrow	HP:0045074
64919	BCL11B	Wormian bones	HP:0002645
64919	BCL11B	Long philtrum	HP:0000343
64919	BCL11B	Eosinophilia	HP:0001880
64919	BCL11B	Thin upper lip vermilion	HP:0000219
64919	BCL11B	Micrognathia	HP:0000347
64919	BCL11B	Hypermetropia	HP:0000540
64919	BCL11B	Hypodontia	HP:0000668
64919	BCL11B	Epicanthus	HP:0000286
64919	BCL11B	Recurrent infections	HP:0002719
64919	BCL11B	Narrow mouth	HP:0000160
64919	BCL11B	Lymphopenia	HP:0001888
64919	BCL11B	Myopia	HP:0000545
64919	BCL11B	Intellectual disability	HP:0001249
64919	BCL11B	Seizures	HP:0001250
64919	BCL11B	Anxiety	HP:0000739
64919	BCL11B	Oligodontia	HP:0000677
64919	BCL11B	Spasticity	HP:0001257
64919	BCL11B	Delayed speech and language development	HP:0000750
64919	BCL11B	Global developmental delay	HP:0001263
64919	BCL11B	Hirsutism	HP:0001007
64919	BCL11B	Asthma	HP:0002099
64919	BCL11B	Microdontia	HP:0000691
64919	BCL11B	Inflammatory abnormality of the skin	HP:0011123
64919	BCL11B	Natal tooth	HP:0000695
64919	BCL11B	Congenital onset	HP:0003577
64919	BCL11B	Hypertelorism	HP:0000316
64919	BCL11B	Pulmonary artery stenosis	HP:0004415
343450	KCNT2	Epileptic encephalopathy	HP:0200134
343450	KCNT2	Atypical absence seizure	HP:0007270
343450	KCNT2	Developmental regression	HP:0002376
343450	KCNT2	Hypsarrhythmia	HP:0002521
343450	KCNT2	Infantile onset	HP:0003593
343450	KCNT2	Generalized myoclonic seizures	HP:0002123
343450	KCNT2	Global developmental delay	HP:0001263
343450	KCNT2	Hypoplasia of the corpus callosum	HP:0002079
7592	ZNF41	Intellectual disability	HP:0001249
146862	UNC45B	Autosomal dominant inheritance	HP:0000006
146862	UNC45B	Subcapsular cataract	HP:0000523
204219	CERS3	Ichthyosis	HP:0008064
204219	CERS3	Short stature	HP:0004322
204219	CERS3	Failure to thrive	HP:0001508
204219	CERS3	Epidermal acanthosis	HP:0025092
204219	CERS3	Hypohidrosis	HP:0000966
204219	CERS3	Congenital ichthyosiform erythroderma	HP:0007431
204219	CERS3	Autosomal recessive inheritance	HP:0000007
204219	CERS3	Keratitis	HP:0000491
204219	CERS3	Hearing impairment	HP:0000365
204219	CERS3	Ectropion	HP:0000656
204219	CERS3	Palmoplantar keratoderma	HP:0000982
204219	CERS3	Corneal erosion	HP:0200020
204219	CERS3	Hypergranulosis	HP:0025114
204219	CERS3	Erythroderma	HP:0001019
204219	CERS3	Alopecia	HP:0001596
204219	CERS3	Abnormality of the nail	HP:0001597
204219	CERS3	Pruritus	HP:0000989
56776	FMN2	Focal impaired awareness seizure	HP:0002384
56776	FMN2	Intellectual disability	HP:0001249
56776	FMN2	Poor speech	HP:0002465
56776	FMN2	Autosomal recessive inheritance	HP:0000007
56776	FMN2	Infantile onset	HP:0003593
56776	FMN2	Generalized hypotonia	HP:0001290
56776	FMN2	Global developmental delay	HP:0001263
286204	CRB2	Focal segmental glomerulosclerosis	HP:0000097
286204	CRB2	Postaxial polydactyly	HP:0100259
286204	CRB2	Seizures	HP:0001250
286204	CRB2	Nephrotic syndrome	HP:0000100
286204	CRB2	Autosomal recessive inheritance	HP:0000007
286204	CRB2	Ventriculomegaly	HP:0002119
286204	CRB2	Renal corticomedullary cysts	HP:0000108
286204	CRB2	Hydrocephalus	HP:0000238
286204	CRB2	Renal insufficiency	HP:0000083
286204	CRB2	Premature birth	HP:0001622
286204	CRB2	Dilatation	HP:0002617
286204	CRB2	Polyhydramnios	HP:0001561
286204	CRB2	Congenital onset	HP:0003577
286204	CRB2	Ventricular septal defect	HP:0001629
65018	PINK1	Hyperreflexia	HP:0001347
65018	PINK1	Anxiety	HP:0000739
65018	PINK1	Autosomal recessive inheritance	HP:0000007
65018	PINK1	Infantile onset	HP:0003593
65018	PINK1	Urinary urgency	HP:0000012
65018	PINK1	Depressivity	HP:0000716
65018	PINK1	Rigidity	HP:0002063
65018	PINK1	Resting tremor	HP:0002322
65018	PINK1	Bradykinesia	HP:0002067
65018	PINK1	Dystonia	HP:0001332
65018	PINK1	Parkinsonism	HP:0001300
65018	PINK1	Dementia	HP:0000726
65018	PINK1	Postural instability	HP:0002172
65018	PINK1	Slow progression	HP:0003677
130557	ZNF513	Abnormal electroretinogram	HP:0000512
130557	ZNF513	Abnormal light- and dark-adapted electroretinogram	HP:0008323
130557	ZNF513	Hyperreflexia	HP:0001347
130557	ZNF513	Cataract	HP:0000518
130557	ZNF513	Autosomal recessive inheritance	HP:0000007
130557	ZNF513	Hypogonadism	HP:0000135
130557	ZNF513	Optic atrophy	HP:0000648
130557	ZNF513	Hyperinsulinemia	HP:0000842
130557	ZNF513	Anteverted nares	HP:0000463
130557	ZNF513	Conductive hearing impairment	HP:0000405
130557	ZNF513	Nyctalopia	HP:0000662
130557	ZNF513	Sensorineural hearing impairment	HP:0000407
130557	ZNF513	Abnormality of retinal pigmentation	HP:0007703
130557	ZNF513	Ophthalmoplegia	HP:0000602
130557	ZNF513	Type II diabetes mellitus	HP:0005978
130557	ZNF513	Atypical scarring of skin	HP:0000987
130557	ZNF513	Optic disc pallor	HP:0000543
130557	ZNF513	Hypoplasia of penis	HP:0008736
130557	ZNF513	Intellectual disability	HP:0001249
130557	ZNF513	Attenuation of retinal blood vessels	HP:0007843
130557	ZNF513	Abnormal testis morphology	HP:0000035
130557	ZNF513	Photophobia	HP:0000613
130557	ZNF513	Obesity	HP:0001513
130557	ZNF513	Blindness	HP:0000618
130557	ZNF513	Abnormal retinal vascular morphology	HP:0008046
130557	ZNF513	Wide nasal bridge	HP:0000431
130557	ZNF513	Keratoconus	HP:0000563
130557	ZNF513	Severely reduced visual acuity	HP:0001141
130557	ZNF513	Glaucoma	HP:0000501
130557	ZNF513	Bone spicule pigmentation of the retina	HP:0007737
130557	ZNF513	Peripheral visual field loss	HP:0007994
130557	ZNF513	Progressive night blindness	HP:0007675
130557	ZNF513	Rod-cone dystrophy	HP:0000510
130557	ZNF513	Nystagmus	HP:0000639
7681	MKRN3	Clinodactyly	HP:0030084
7681	MKRN3	Acromicria	HP:0031878
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	Cryptorchidism	HP:0000028
7681	MKRN3	Hypermetropia	HP:0000540
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	Neonatal hypotonia	HP:0001319
7681	MKRN3	Genu valgum	HP:0002857
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	Ventriculomegaly	HP:0002119
7681	MKRN3	Abdominal obesity	HP:0012743
7681	MKRN3	Hyperinsulinemia	HP:0000842
7681	MKRN3	Premature thelarche	HP:0010314
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	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	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
359948	IRF2BP2	Immunodeficiency	HP:0002721
359948	IRF2BP2	Decreased antibody level in blood	HP:0004313
400916	CHCHD10	Ragged-red muscle fibers	HP:0003200
400916	CHCHD10	Skeletal muscle atrophy	HP:0003202
400916	CHCHD10	Abnormal mitochondrial morphology	HP:0008322
400916	CHCHD10	Bulbar palsy	HP:0001283
400916	CHCHD10	Areflexia	HP:0001284
400916	CHCHD10	Facial palsy	HP:0010628
400916	CHCHD10	Neurodegeneration	HP:0002180
400916	CHCHD10	Autosomal dominant inheritance	HP:0000006
400916	CHCHD10	Neck flexor weakness	HP:0003722
400916	CHCHD10	Apraxia	HP:0002186
400916	CHCHD10	Dyscalculia	HP:0002442
400916	CHCHD10	Degeneration of the lateral corticospinal tracts	HP:0002314
400916	CHCHD10	Paralysis	HP:0003470
400916	CHCHD10	Perseveration	HP:0030223
400916	CHCHD10	Parkinsonism	HP:0001300
400916	CHCHD10	Calf muscle hypertrophy	HP:0008981
400916	CHCHD10	Neuronal loss in the cerebral cortex	HP:0007190
400916	CHCHD10	Sensorineural hearing impairment	HP:0000407
400916	CHCHD10	Progressive cerebellar ataxia	HP:0002073
400916	CHCHD10	Distal muscle weakness	HP:0002460
400916	CHCHD10	Babinski sign	HP:0003487
400916	CHCHD10	Proximal muscle weakness in lower limbs	HP:0008994
400916	CHCHD10	Elevated serum creatine kinase	HP:0003236
400916	CHCHD10	Proximal muscle weakness in upper limbs	HP:0008997
400916	CHCHD10	Restrictive ventilatory defect	HP:0002091
400916	CHCHD10	Bilateral sensorineural hearing impairment	HP:0008619
400916	CHCHD10	Muscle weakness	HP:0001324
400916	CHCHD10	Dyspnea	HP:0002094
400916	CHCHD10	Difficulty walking	HP:0002355
400916	CHCHD10	Tremor	HP:0001337
400916	CHCHD10	Amyotrophic lateral sclerosis	HP:0007354
400916	CHCHD10	Respiratory failure	HP:0002878
400916	CHCHD10	Abnormal lower motor neuron morphology	HP:0002366
400916	CHCHD10	Muscle spasm	HP:0003394
400916	CHCHD10	Cerebral cortical atrophy	HP:0002120
400916	CHCHD10	Emotional lability	HP:0000712
400916	CHCHD10	Agitation	HP:0000713
400916	CHCHD10	Depressivity	HP:0000716
400916	CHCHD10	Fasciculations	HP:0002380
400916	CHCHD10	Increased mitochondrial number	HP:0040014
400916	CHCHD10	Abnormal upper motor neuron morphology	HP:0002127
400916	CHCHD10	Increased intramyocellular lipid droplets	HP:0012240
400916	CHCHD10	Laryngospasm	HP:0025425
400916	CHCHD10	Paraparesis	HP:0002385
400916	CHCHD10	Frontal lobe dementia	HP:0000727
400916	CHCHD10	Xerostomia	HP:0000217
400916	CHCHD10	Exercise intolerance	HP:0003546
400916	CHCHD10	Fatigue	HP:0012378
400916	CHCHD10	Progressive	HP:0003676
400916	CHCHD10	Slow progression	HP:0003677
400916	CHCHD10	Distal lower limb muscle weakness	HP:0009053
400916	CHCHD10	Supranuclear gaze palsy	HP:0000605
400916	CHCHD10	Disinhibition	HP:0000734
400916	CHCHD10	Dysphagia	HP:0002015
400916	CHCHD10	Frontotemporal dementia	HP:0002145
400916	CHCHD10	Nausea and vomiting	HP:0002017
400916	CHCHD10	Tetraparesis	HP:0002273
400916	CHCHD10	Pes cavus	HP:0001761
400916	CHCHD10	Short stature	HP:0004322
400916	CHCHD10	Hallucinations	HP:0000738
400916	CHCHD10	Ataxia	HP:0001251
400916	CHCHD10	Anxiety	HP:0000739
400916	CHCHD10	Pes planus	HP:0001763
400916	CHCHD10	Apathy	HP:0000741
400916	CHCHD10	Spinal muscular atrophy	HP:0007269
400916	CHCHD10	Hammertoe	HP:0001765
400916	CHCHD10	Increased serum lactate	HP:0002151
400916	CHCHD10	Spasticity	HP:0001257
400916	CHCHD10	Global brain atrophy	HP:0002283
400916	CHCHD10	Dysarthria	HP:0001260
400916	CHCHD10	Weakness of facial musculature	HP:0030319
400916	CHCHD10	Hyporeflexia	HP:0001265
400916	CHCHD10	Fatigable weakness of swallowing muscles	HP:0030195
400916	CHCHD10	Pain	HP:0012531
400916	CHCHD10	Mildly elevated creatine kinase	HP:0008180
400916	CHCHD10	Fatigable weakness of respiratory muscles	HP:0030196
400916	CHCHD10	Generalized amyotrophy	HP:0003700
400916	CHCHD10	Proximal muscle weakness	HP:0003701
400916	CHCHD10	Distal sensory impairment	HP:0002936
400916	CHCHD10	Gliosis	HP:0002171
400916	CHCHD10	Ptosis	HP:0000508
400916	CHCHD10	Generalized muscle weakness	HP:0003324
400916	CHCHD10	Mutism	HP:0002300
7700	ZNF141	Autosomal recessive inheritance	HP:0000007
7700	ZNF141	Postaxial hand polydactyly	HP:0001162
7700	ZNF141	Broad phalanges of the 5th finger	HP:0009374
7704	ZBTB16	Narrow mouth	HP:0000160
7704	ZBTB16	Intellectual disability	HP:0001249
7704	ZBTB16	Short stature	HP:0004322
7704	ZBTB16	Aplasia/Hypoplasia of the radius	HP:0006501
7704	ZBTB16	Strabismus	HP:0000486
7704	ZBTB16	Autosomal recessive inheritance	HP:0000007
7704	ZBTB16	Short tibia	HP:0005736
7704	ZBTB16	Thin vermilion border	HP:0000233
7704	ZBTB16	Hypoplasia of the ulna	HP:0003022
7704	ZBTB16	Absent thumb	HP:0009777
7704	ZBTB16	Micropenis	HP:0000054
7704	ZBTB16	Supernumerary ribs	HP:0005815
7704	ZBTB16	Short femur	HP:0003097
7704	ZBTB16	Microcephaly	HP:0000252
7704	ZBTB16	Cryptorchidism	HP:0000028
7704	ZBTB16	Fibular hypoplasia	HP:0003038
7704	ZBTB16	Delayed skeletal maturation	HP:0002750
7707	ZNF148	Delayed ability to walk	HP:0031936
7707	ZNF148	Feeding difficulties	HP:0011968
7707	ZNF148	Triangular face	HP:0000325
7707	ZNF148	Autosomal dominant inheritance	HP:0000006
7707	ZNF148	Upslanted palpebral fissure	HP:0000582
7707	ZNF148	Ventriculomegaly	HP:0002119
7707	ZNF148	Short palpebral fissure	HP:0012745
7707	ZNF148	Generalized hypotonia	HP:0001290
7707	ZNF148	Coarctation of aorta	HP:0001680
7707	ZNF148	Frontal bossing	HP:0002007
7707	ZNF148	Coarse facial features	HP:0000280
7707	ZNF148	Wide mouth	HP:0000154
7707	ZNF148	Hypermetropia	HP:0000540
7707	ZNF148	Epicanthus	HP:0000286
7707	ZNF148	Hypoplasia of the corpus callosum	HP:0002079
7707	ZNF148	Hypoplastic left heart	HP:0004383
7707	ZNF148	Intellectual disability	HP:0001249
7707	ZNF148	Poor speech	HP:0002465
7707	ZNF148	Short stature	HP:0004322
7707	ZNF148	Talipes equinovarus	HP:0001762
7707	ZNF148	Pes planus	HP:0001763
7707	ZNF148	Low hanging columella	HP:0009765
7707	ZNF148	Patent ductus arteriosus	HP:0001643
7707	ZNF148	Renal cyst	HP:0000107
7707	ZNF148	Respiratory insufficiency	HP:0002093
7707	ZNF148	Downslanted palpebral fissures	HP:0000494
7707	ZNF148	Renal dysplasia	HP:0000110
7707	ZNF148	Global developmental delay	HP:0001263
7707	ZNF148	Pointed chin	HP:0000307
7707	ZNF148	Mitral stenosis	HP:0001718
7707	ZNF148	Growth hormone deficiency	HP:0000824
7707	ZNF148	Abnormality of the pinna	HP:0000377
7707	ZNF148	Agenesis of corpus callosum	HP:0001274
7707	ZNF148	Telecanthus	HP:0000506
7707	ZNF148	Microcephaly	HP:0000252
7707	ZNF148	Smooth philtrum	HP:0000319
65055	REEP1	First dorsal interossei muscle weakness	HP:0003392
65055	REEP1	Thenar muscle atrophy	HP:0003393
65055	REEP1	Skeletal muscle atrophy	HP:0003202
65055	REEP1	Abnormal motor nerve conduction velocity	HP:0040131
65055	REEP1	Hyperreflexia	HP:0001347
65055	REEP1	Areflexia	HP:0001284
65055	REEP1	Brisk reflexes	HP:0001348
65055	REEP1	Spastic tetraparesis	HP:0001285
65055	REEP1	Autosomal dominant inheritance	HP:0000006
65055	REEP1	Motor polyneuropathy	HP:0007178
65055	REEP1	Urinary urgency	HP:0000012
65055	REEP1	Unsteady gait	HP:0002317
65055	REEP1	Impaired proprioception	HP:0010831
65055	REEP1	Spastic gait	HP:0002064
65055	REEP1	Pes valgus	HP:0008081
65055	REEP1	Difficulty running	HP:0009046
65055	REEP1	Lower limb hyperreflexia	HP:0002395
65055	REEP1	Upper limb muscle weakness	HP:0003484
65055	REEP1	Distal muscle weakness	HP:0002460
65055	REEP1	Distal lower limb muscle weakness	HP:0009053
65055	REEP1	Hand muscle weakness	HP:0030237
65055	REEP1	Dysphagia	HP:0002015
65055	REEP1	Babinski sign	HP:0003487
65055	REEP1	Pes cavus	HP:0001761
65055	REEP1	First dorsal interossei muscle atrophy	HP:0003426
65055	REEP1	Proximal muscle weakness in lower limbs	HP:0008994
65055	REEP1	Thenar muscle weakness	HP:0003427
65055	REEP1	Hammertoe	HP:0001765
65055	REEP1	Decreased motor nerve conduction velocity	HP:0003431
65055	REEP1	Spastic paraplegia	HP:0001258
65055	REEP1	Cold-induced hand cramps	HP:0003435
65055	REEP1	Lower limb muscle weakness	HP:0007340
65055	REEP1	Dysarthria	HP:0001260
65055	REEP1	Distal amyotrophy	HP:0003693
65055	REEP1	Hyporeflexia	HP:0001265
65055	REEP1	Difficulty walking	HP:0002355
65055	REEP1	Bulbar signs	HP:0002483
65055	REEP1	Variable expressivity	HP:0003828
65055	REEP1	Hyperreflexia in upper limbs	HP:0007350
65055	REEP1	Distal sensory impairment	HP:0002936
65055	REEP1	Ankle clonus	HP:0011448
65055	REEP1	Proximal lower limb amyotrophy	HP:0008956
65055	REEP1	Impaired vibratory sensation	HP:0002495
65057	ACD	Autosomal dominant inheritance	HP:0000006
65057	ACD	Ventriculomegaly	HP:0002119
65057	ACD	Autosomal recessive inheritance	HP:0000007
65057	ACD	Abnormality of coagulation	HP:0001928
65057	ACD	Cerebral cortical atrophy	HP:0002120
65057	ACD	Freckling	HP:0001480
65057	ACD	Neoplasm of the pancreas	HP:0002894
65057	ACD	Generalized hyperpigmentation	HP:0007440
65057	ACD	Thrombocytopenia	HP:0001873
65057	ACD	Cerebral calcification	HP:0002514
65057	ACD	Esophageal stenosis	HP:0010450
65057	ACD	Nail dystrophy	HP:0008404
65057	ACD	Abnormality of extrapyramidal motor function	HP:0002071
65057	ACD	Bone marrow hypocellularity	HP:0005528
65057	ACD	Abnormal leukocyte morphology	HP:0001881
65057	ACD	Abnormality of the lymphatic system	HP:0100763
65057	ACD	Generalized hypopigmentation of hair	HP:0011358
65057	ACD	Excessive wrinkled skin	HP:0007392
65057	ACD	Immunodeficiency	HP:0002721
65057	ACD	Intellectual disability	HP:0001249
65057	ACD	Sparse scalp hair	HP:0002209
65057	ACD	Neoplasm of the stomach	HP:0006753
65057	ACD	Short stature	HP:0004322
65057	ACD	Ataxia	HP:0001251
65057	ACD	Failure to thrive	HP:0001508
65057	ACD	Abnormality of the dentition	HP:0000164
65057	ACD	Intrauterine growth retardation	HP:0001511
65057	ACD	Neoplasm	HP:0002664
65057	ACD	Premature graying of hair	HP:0002216
65057	ACD	Retinopathy	HP:0000488
65057	ACD	Cerebellar hypoplasia	HP:0001321
65057	ACD	Neoplasm of the breast	HP:0100013
65057	ACD	Melanoma	HP:0002861
65057	ACD	Dermal atrophy	HP:0004334
65057	ACD	Anemia	HP:0001903
65057	ACD	Global developmental delay	HP:0001263
65057	ACD	Hyporeflexia	HP:0001265
65057	ACD	Nevus	HP:0003764
65057	ACD	Oral leukoplakia	HP:0002745
65057	ACD	Abnormal hair morphology	HP:0001595
65057	ACD	Aplastic anemia	HP:0001915
65057	ACD	Hypertonia	HP:0001276
65057	ACD	Microcephaly	HP:0000252
65057	ACD	Dry skin	HP:0000958
122402	TDRD9	Increased circulating gonadotropin level	HP:0000837
122402	TDRD9	Non-obstructive azoospermia	HP:0011961
122402	TDRD9	Obstructive azoospermia	HP:0011962
122402	TDRD9	Azoospermia	HP:0000027
122402	TDRD9	Cryptozoospermia	HP:0030974
122402	TDRD9	Decreased testicular size	HP:0008734
65062	TMEM237	Autosomal recessive inheritance	HP:0000007
65062	TMEM237	Gait disturbance	HP:0001288
65062	TMEM237	Hand polydactyly	HP:0001161
65062	TMEM237	Generalized hypotonia	HP:0001290
65062	TMEM237	Malar flattening	HP:0000272
65062	TMEM237	Oculomotor apraxia	HP:0000657
65062	TMEM237	Long face	HP:0000276
65062	TMEM237	Dandy-Walker malformation	HP:0001305
65062	TMEM237	Epicanthus	HP:0000286
65062	TMEM237	Situs inversus totalis	HP:0001696
65062	TMEM237	Postaxial polydactyly	HP:0100259
65062	TMEM237	Encephalocele	HP:0002084
65062	TMEM237	Foot polydactyly	HP:0001829
65062	TMEM237	Cerebellar vermis hypoplasia	HP:0001320
65062	TMEM237	Feeding difficulties in infancy	HP:0008872
65062	TMEM237	Prominent nasal bridge	HP:0000426
65062	TMEM237	Morning glory anomaly	HP:0025514
65062	TMEM237	Retinal dystrophy	HP:0000556
65062	TMEM237	Cleft palate	HP:0000175
65062	TMEM237	Tented upper lip vermilion	HP:0010804
65062	TMEM237	Hypertension	HP:0000822
65062	TMEM237	Chorioretinal coloboma	HP:0000567
65062	TMEM237	Apnea	HP:0002104
65062	TMEM237	Microphthalmia	HP:0000568
65062	TMEM237	Tremor	HP:0001337
65062	TMEM237	Episodic tachypnea	HP:0002876
65062	TMEM237	Hypertelorism	HP:0000316
65062	TMEM237	Feeding difficulties	HP:0011968
65062	TMEM237	Open mouth	HP:0000194
65062	TMEM237	Short philtrum	HP:0000322
65062	TMEM237	Biparietal narrowing	HP:0004422
65062	TMEM237	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
65062	TMEM237	Oral cleft	HP:0000202
65062	TMEM237	Aganglionic megacolon	HP:0002251
65062	TMEM237	Coloboma	HP:0000589
65062	TMEM237	Polymicrogyria	HP:0002126
65062	TMEM237	Anteverted nares	HP:0000463
65062	TMEM237	Renal insufficiency	HP:0000083
65062	TMEM237	Abnormality of cardiovascular system morphology	HP:0030680
65062	TMEM237	Autistic behavior	HP:0000729
65062	TMEM237	Scoliosis	HP:0002650
65062	TMEM237	High forehead	HP:0000348
65062	TMEM237	Abnormality of neuronal migration	HP:0002269
65062	TMEM237	Abnormality of the hypothalamus-pituitary axis	HP:0000864
65062	TMEM237	Intellectual disability	HP:0001249
65062	TMEM237	Irritability	HP:0000737
65062	TMEM237	Seizures	HP:0001250
65062	TMEM237	Ataxia	HP:0001251
65062	TMEM237	Muscular hypotonia	HP:0001252
65062	TMEM237	Iris coloboma	HP:0000612
65062	TMEM237	Tachypnea	HP:0002789
65062	TMEM237	Strabismus	HP:0000486
65062	TMEM237	Growth delay	HP:0001510
65062	TMEM237	Posteriorly rotated ears	HP:0000358
65062	TMEM237	Blindness	HP:0000618
65062	TMEM237	Deeply set eye	HP:0000490
65062	TMEM237	Renal cyst	HP:0000107
65062	TMEM237	Hydrocephalus	HP:0000238
65062	TMEM237	Downslanted palpebral fissures	HP:0000494
65062	TMEM237	Global developmental delay	HP:0001263
65062	TMEM237	Low-set, posteriorly rotated ears	HP:0000368
65062	TMEM237	Nephropathy	HP:0000112
65062	TMEM237	Abnormal form of the vertebral bodies	HP:0003312
65062	TMEM237	Intellectual disability, severe	HP:0010864
65062	TMEM237	Low-set ears	HP:0000369
65062	TMEM237	Molar tooth sign on MRI	HP:0002419
65062	TMEM237	Highly arched eyebrow	HP:0002553
65062	TMEM237	Agenesis of corpus callosum	HP:0001274
65062	TMEM237	Ptosis	HP:0000508
65062	TMEM237	Nystagmus	HP:0000639
286262	TPRN	Sensorineural hearing impairment	HP:0000407
286262	TPRN	Autosomal recessive inheritance	HP:0000007
286262	TPRN	Progressive sensorineural hearing impairment	HP:0000408
286262	TPRN	Delayed speech and language development	HP:0000750
65080	MRPL44	Variable expressivity	HP:0003828
65080	MRPL44	Microvesicular hepatic steatosis	HP:0001414
65080	MRPL44	Hypertrophic cardiomyopathy	HP:0001639
65080	MRPL44	Autosomal recessive inheritance	HP:0000007
65080	MRPL44	Increased serum lactate	HP:0002151
65080	MRPL44	Infantile onset	HP:0003593
65080	MRPL44	Elevated hepatic transaminase	HP:0002910
7737	RNF113A	Cutis marmorata	HP:0000965
7737	RNF113A	Sparse hair	HP:0008070
7737	RNF113A	Intellectual disability, profound	HP:0002187
7737	RNF113A	X-linked dominant inheritance	HP:0001423
7737	RNF113A	Progeroid facial appearance	HP:0005328
7737	RNF113A	Broad-based gait	HP:0002136
7737	RNF113A	Decreased antibody level in blood	HP:0004313
7737	RNF113A	Dandy-Walker malformation	HP:0001305
7737	RNF113A	Wide mouth	HP:0000154
7737	RNF113A	High forehead	HP:0000348
7737	RNF113A	Recurrent infections	HP:0002719
7737	RNF113A	Cutaneous photosensitivity	HP:0000992
7737	RNF113A	Optic nerve hypoplasia	HP:0000609
7737	RNF113A	Short stature	HP:0004322
7737	RNF113A	Intrauterine growth retardation	HP:0001511
7737	RNF113A	Cerebellar hypoplasia	HP:0001321
7737	RNF113A	Slow-growing hair	HP:0002217
7737	RNF113A	Widely spaced primary teeth	HP:0006313
7737	RNF113A	Global brain atrophy	HP:0002283
7737	RNF113A	Retinal dystrophy	HP:0000556
7737	RNF113A	Chronic diarrhea	HP:0002028
7737	RNF113A	Mandibular prognathia	HP:0000303
7737	RNF113A	Micropenis	HP:0000054
7737	RNF113A	Brittle hair	HP:0002299
7737	RNF113A	Progressive microcephaly	HP:0000253
65082	VPS33A	Hepatomegaly	HP:0002240
65082	VPS33A	Pectus carinatum	HP:0000768
65082	VPS33A	Autosomal recessive inheritance	HP:0000007
65082	VPS33A	Optic atrophy	HP:0000648
65082	VPS33A	Infantile onset	HP:0003593
65082	VPS33A	Long eyelashes	HP:0000527
65082	VPS33A	Splenomegaly	HP:0001744
65082	VPS33A	Thrombocytopenia	HP:0001873
65082	VPS33A	Cerebral calcification	HP:0002514
65082	VPS33A	Prominent forehead	HP:0011220
65082	VPS33A	Short neck	HP:0000470
65082	VPS33A	Synophrys	HP:0000664
65082	VPS33A	Bone marrow hypocellularity	HP:0005528
65082	VPS33A	Coarse facial features	HP:0000280
65082	VPS33A	Flexion contracture	HP:0001371
65082	VPS33A	Brain atrophy	HP:0012444
65082	VPS33A	Tubular atrophy	HP:0000092
65082	VPS33A	Recurrent respiratory infections	HP:0002205
65082	VPS33A	Proteinuria	HP:0000093
65082	VPS33A	Macroglossia	HP:0000158
65082	VPS33A	Epicanthus	HP:0000286
65082	VPS33A	Coarse hair	HP:0002208
65082	VPS33A	Delayed myelination	HP:0012448
65082	VPS33A	Abnormality of the foot	HP:0001760
65082	VPS33A	Focal segmental glomerulosclerosis	HP:0000097
65082	VPS33A	Acetabular dysplasia	HP:0008807
65082	VPS33A	Hypertrophic cardiomyopathy	HP:0001639
65082	VPS33A	Patent ductus arteriosus	HP:0001643
65082	VPS33A	Dysostosis multiplex	HP:0000943
65082	VPS33A	Wide nasal bridge	HP:0000431
65082	VPS33A	Hirsutism	HP:0001007
65082	VPS33A	Global developmental delay	HP:0001263
65082	VPS33A	Anemia	HP:0001903
65082	VPS33A	Respiratory distress	HP:0002098
65082	VPS33A	Flared iliac wings	HP:0002869
65082	VPS33A	Thick vermilion border	HP:0012471
65082	VPS33A	J-shaped sella turcica	HP:0002680
65082	VPS33A	Telecanthus	HP:0000506
65082	VPS33A	Macrovesicular hepatic steatosis	HP:0001403
65082	VPS33A	Wide nose	HP:0000445
65082	VPS33A	Pectus excavatum	HP:0000767
147007	TMEM199	Decreased liver function	HP:0001410
147007	TMEM199	Elevated alkaline phosphatase	HP:0003155
147007	TMEM199	Hypercholesterolemia	HP:0003124
147007	TMEM199	Decreased serum ceruloplasmin	HP:0010837
147007	TMEM199	Hepatic steatosis	HP:0001397
147007	TMEM199	Increased LDL cholesterol concentration	HP:0003141
147007	TMEM199	Abnormal protein O-linked glycosylation	HP:0012358
147007	TMEM199	Autosomal recessive inheritance	HP:0000007
147007	TMEM199	Generalized hypotonia	HP:0001290
147007	TMEM199	Abnormal protein N-linked glycosylation	HP:0012347
147007	TMEM199	Elevated hepatic transaminase	HP:0002910
147007	TMEM199	Global developmental delay	HP:0001263
24137	KIF4A	Poor speech	HP:0002465
24137	KIF4A	Intellectual disability	HP:0001249
24137	KIF4A	Seizures	HP:0001250
24137	KIF4A	X-linked recessive inheritance	HP:0001419
24137	KIF4A	Abnormal facial shape	HP:0001999
24140	FTSJ1	Depressed nasal bridge	HP:0005280
24140	FTSJ1	Intellectual disability	HP:0001249
24140	FTSJ1	Seizures	HP:0001250
24140	FTSJ1	Intellectual disability, mild	HP:0001256
24140	FTSJ1	Abnormal distal phalanx morphology of finger	HP:0009832
24140	FTSJ1	X-linked inheritance	HP:0001417
24140	FTSJ1	X-linked recessive inheritance	HP:0001419
24140	FTSJ1	Autism	HP:0000717
24140	FTSJ1	Delayed speech and language development	HP:0000750
24140	FTSJ1	Global developmental delay	HP:0001263
24140	FTSJ1	Macrotia	HP:0000400
24140	FTSJ1	Delayed gross motor development	HP:0002194
24140	FTSJ1	Thick lower lip vermilion	HP:0000179
24140	FTSJ1	Periorbital fullness	HP:0000629
24140	FTSJ1	Long palpebral fissure	HP:0000637
343637	RSPO4	Anonychia	HP:0001798
343637	RSPO4	Autosomal recessive inheritance	HP:0000007
56916	SMARCAD1	Small nail	HP:0001792
56916	SMARCAD1	Aplasia/Hypoplasia of the skin	HP:0008065
56916	SMARCAD1	Clubbing	HP:0001217
56916	SMARCAD1	Abnormal blistering of the skin	HP:0008066
56916	SMARCAD1	Hyperkeratosis	HP:0000962
56916	SMARCAD1	Thin skin	HP:0000963
56916	SMARCAD1	Epidermal acanthosis	HP:0025092
56916	SMARCAD1	Lack of skin elasticity	HP:0100679
56916	SMARCAD1	Autosomal dominant inheritance	HP:0000006
56916	SMARCAD1	Hypohidrosis	HP:0000966
56916	SMARCAD1	Ectodermal dysplasia	HP:0000968
56916	SMARCAD1	Camptodactyly of finger	HP:0100490
56916	SMARCAD1	Palmar hyperkeratosis	HP:0010765
56916	SMARCAD1	Palmoplantar keratoderma	HP:0000982
56916	SMARCAD1	Flexion contracture	HP:0001371
56916	SMARCAD1	Skin rash	HP:0000988
56916	SMARCAD1	Tapered finger	HP:0001182
56916	SMARCAD1	Adermatoglyphia	HP:0007455
56916	SMARCAD1	Milia	HP:0001056
56916	SMARCAD1	Neoplasm	HP:0002664
56916	SMARCAD1	Congenital palmoplantar keratodermia	HP:0007597
56916	SMARCAD1	Amniotic constriction ring	HP:0009775
56916	SMARCAD1	Thickened skin	HP:0001072
56916	SMARCAD1	Abnormal dermatoglyphics	HP:0007477
56916	SMARCAD1	Single transverse palmar crease	HP:0000954
56916	SMARCAD1	Cutaneous syndactyly of toes	HP:0010621
56916	SMARCAD1	Dry skin	HP:0000958
56916	SMARCAD1	Sclerodactyly	HP:0011838
24148	PRPF6	Abnormal electroretinogram	HP:0000512
24148	PRPF6	Hyperreflexia	HP:0001347
24148	PRPF6	Cataract	HP:0000518
24148	PRPF6	Autosomal dominant inheritance	HP:0000006
24148	PRPF6	Hypogonadism	HP:0000135
24148	PRPF6	Optic atrophy	HP:0000648
24148	PRPF6	Hyperinsulinemia	HP:0000842
24148	PRPF6	Anteverted nares	HP:0000463
24148	PRPF6	Pallor	HP:0000980
24148	PRPF6	Conductive hearing impairment	HP:0000405
24148	PRPF6	Sensorineural hearing impairment	HP:0000407
24148	PRPF6	Abnormality of retinal pigmentation	HP:0007703
24148	PRPF6	Ophthalmoplegia	HP:0000602
24148	PRPF6	Type II diabetes mellitus	HP:0005978
24148	PRPF6	Atypical scarring of skin	HP:0000987
24148	PRPF6	Hypoplasia of penis	HP:0008736
24148	PRPF6	Intellectual disability	HP:0001249
24148	PRPF6	Abnormal testis morphology	HP:0000035
24148	PRPF6	Photophobia	HP:0000613
24148	PRPF6	Obesity	HP:0001513
24148	PRPF6	Blindness	HP:0000618
24148	PRPF6	Abnormal retinal vascular morphology	HP:0008046
24148	PRPF6	Wide nasal bridge	HP:0000431
24148	PRPF6	Reduced visual acuity	HP:0007663
24148	PRPF6	Keratoconus	HP:0000563
24148	PRPF6	Glaucoma	HP:0000501
24148	PRPF6	Progressive night blindness	HP:0007675
24148	PRPF6	Rod-cone dystrophy	HP:0000510
24148	PRPF6	Nystagmus	HP:0000639
65109	UPF3B	Macrocephaly	HP:0000256
65109	UPF3B	Pectus carinatum	HP:0000768
65109	UPF3B	Short philtrum	HP:0000322
65109	UPF3B	Abnormality of the musculature	HP:0003011
65109	UPF3B	Brachydactyly	HP:0001156
65109	UPF3B	Psychosis	HP:0000709
65109	UPF3B	Narrow chest	HP:0000774
65109	UPF3B	Hypoplasia of the maxilla	HP:0000327
65109	UPF3B	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
65109	UPF3B	Camptodactyly of finger	HP:0100490
65109	UPF3B	Nasal speech	HP:0001611
65109	UPF3B	X-linked recessive inheritance	HP:0001419
65109	UPF3B	Arachnodactyly	HP:0001166
65109	UPF3B	Schizophrenia	HP:0100753
65109	UPF3B	Narrow face	HP:0000275
65109	UPF3B	Prominent forehead	HP:0011220
65109	UPF3B	Long face	HP:0000276
65109	UPF3B	Frontal bossing	HP:0002007
65109	UPF3B	High palate	HP:0000218
65109	UPF3B	Scoliosis	HP:0002650
65109	UPF3B	Protruding ear	HP:0000411
65109	UPF3B	Micrognathia	HP:0000347
65109	UPF3B	High forehead	HP:0000348
65109	UPF3B	Atrial septal defect	HP:0001631
65109	UPF3B	Intellectual disability	HP:0001249
65109	UPF3B	Hallucinations	HP:0000738
65109	UPF3B	Seizures	HP:0001250
65109	UPF3B	Growth abnormality	HP:0001507
65109	UPF3B	Muscular hypotonia	HP:0001252
65109	UPF3B	Dental crowding	HP:0000678
65109	UPF3B	Long foot	HP:0001833
65109	UPF3B	Attention deficit hyperactivity disorder	HP:0007018
65109	UPF3B	Prominent nasal bridge	HP:0000426
65109	UPF3B	Disproportionate tall stature	HP:0001519
65109	UPF3B	Mandibular prognathia	HP:0000303
65109	UPF3B	Low-set ears	HP:0000369
65109	UPF3B	Macroorchidism	HP:0000053
65109	UPF3B	Neurological speech impairment	HP:0002167
65109	UPF3B	Brachycephaly	HP:0000248
65109	UPF3B	Kyphosis	HP:0002808
65109	UPF3B	Joint hyperflexibility	HP:0005692
65109	UPF3B	Pectus excavatum	HP:0000767
81494	CFHR5	Glomerulonephritis	HP:0000099
81494	CFHR5	Autosomal dominant inheritance	HP:0000006
81494	CFHR5	Hematuria	HP:0000790
81494	CFHR5	Progressive	HP:0003676
81494	CFHR5	Stage 5 chronic kidney disease	HP:0003774
56922	MCCC1	Hyperreflexia	HP:0001347
56922	MCCC1	Opisthotonus	HP:0002179
56922	MCCC1	Hyperammonemia	HP:0001987
56922	MCCC1	Abnormal circulating leucine concentration	HP:0004357
56922	MCCC1	Autosomal recessive inheritance	HP:0000007
56922	MCCC1	Organic aciduria	HP:0001992
56922	MCCC1	Generalized hypotonia	HP:0001290
56922	MCCC1	Psychomotor retardation	HP:0025356
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	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	Acute hepatic steatosis	HP:0006573
56922	MCCC1	Respiratory insufficiency	HP:0002093
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
343641	TGM6	Intention tremor	HP:0002080
343641	TGM6	Dysmetric saccades	HP:0000641
343641	TGM6	Hyperreflexia	HP:0001347
343641	TGM6	Autosomal dominant inheritance	HP:0000006
343641	TGM6	Intellectual disability, moderate	HP:0002342
343641	TGM6	Incoordination	HP:0002311
343641	TGM6	Dysarthria	HP:0001260
343641	TGM6	Pseudobulbar paralysis	HP:0007024
343641	TGM6	Gait ataxia	HP:0002066
343641	TGM6	Neck muscle weakness	HP:0000467
343641	TGM6	Difficulty walking	HP:0002355
343641	TGM6	Limb ataxia	HP:0002070
343641	TGM6	Cerebellar atrophy	HP:0001272
343641	TGM6	Torticollis	HP:0000473
343641	TGM6	Progressive cerebellar ataxia	HP:0002073
343641	TGM6	Abnormality of the orbital region	HP:0000315
343641	TGM6	Slow progression	HP:0003677
343641	TGM6	Adult onset	HP:0003581
343641	TGM6	Dysmetria	HP:0001310
343641	TGM6	Babinski sign	HP:0003487
7780	SLC30A2	Abnormal intestine morphology	HP:0002242
7780	SLC30A2	Eczema	HP:0000964
7780	SLC30A2	Abnormal blood zinc concentration	HP:0008277
7780	SLC30A2	Autosomal dominant inheritance	HP:0000006
7780	SLC30A2	Abnormality of the skin	HP:0000951
7780	SLC30A2	Autosomal recessive inheritance	HP:0000007
65125	WNK1	Decreased corneal reflex	HP:0008000
65125	WNK1	Skeletal muscle atrophy	HP:0003202
65125	WNK1	Areflexia	HP:0001284
65125	WNK1	Autosomal dominant inheritance	HP:0000006
65125	WNK1	Autosomal recessive inheritance	HP:0000007
65125	WNK1	Dystrophic fingernails	HP:0008391
65125	WNK1	Abnormality of the hip bone	HP:0003272
65125	WNK1	Infantile onset	HP:0003593
65125	WNK1	Generalized hypotonia	HP:0001290
65125	WNK1	Anhidrosis	HP:0000970
65125	WNK1	Hyperhidrosis	HP:0000975
65125	WNK1	Dystrophic toenail	HP:0001810
65125	WNK1	Abnormality of metabolism/homeostasis	HP:0001939
65125	WNK1	Abnormality of the ankles	HP:0003028
65125	WNK1	Wormian bones	HP:0002645
65125	WNK1	Metabolic acidosis	HP:0001942
65125	WNK1	Paronychia	HP:0001818
65125	WNK1	Slow progression	HP:0003677
65125	WNK1	Tapered finger	HP:0001182
65125	WNK1	Hyperchloremia	HP:0011423
65125	WNK1	Abnormal cortical bone morphology	HP:0003103
65125	WNK1	Decreased taste sensation	HP:0000224
65125	WNK1	Autoamputation of digits	HP:0007460
65125	WNK1	Muscular hypotonia	HP:0001252
65125	WNK1	Gastroesophageal reflux	HP:0002020
65125	WNK1	Painless fractures due to injury	HP:0002661
65125	WNK1	Peripheral neuropathy	HP:0009830
65125	WNK1	Feeding difficulties in infancy	HP:0008872
65125	WNK1	Acral ulceration	HP:0006121
65125	WNK1	Hyperkalemia	HP:0002153
65125	WNK1	Abnormality of epiphysis morphology	HP:0005930
65125	WNK1	Osteolytic defects of the phalanges of the hand	HP:0009771
65125	WNK1	Hyperlordosis	HP:0003307
65125	WNK1	Episodic hyperhidrosis	HP:0001069
65125	WNK1	Hyporeflexia	HP:0001265
65125	WNK1	Foot acroosteolysis	HP:0001842
65125	WNK1	Pseudohypoaldosteronism	HP:0008242
65125	WNK1	Decreased number of peripheral myelinated nerve fibers	HP:0003380
65125	WNK1	Hyperchloremic metabolic acidosis	HP:0004918
65125	WNK1	Hypertension	HP:0000822
65125	WNK1	Decreased sensory nerve conduction velocity	HP:0003448
65125	WNK1	Decreased nerve conduction velocity	HP:0000762
65125	WNK1	Reduced bone mineral density	HP:0004349
65125	WNK1	Abnormality of the knee	HP:0002815
261734	NPHP4	Cataract	HP:0000518
261734	NPHP4	Amblyopia	HP:0000646
261734	NPHP4	Autosomal recessive inheritance	HP:0000007
261734	NPHP4	Tubulointerstitial fibrosis	HP:0005576
261734	NPHP4	Premature ovarian insufficiency	HP:0008209
261734	NPHP4	Progressive visual loss	HP:0000529
261734	NPHP4	Heterogeneous	HP:0001425
261734	NPHP4	Cone-shaped epiphysis	HP:0010579
261734	NPHP4	Abnormality of retinal pigmentation	HP:0007703
261734	NPHP4	Nephronophthisis	HP:0000090
261734	NPHP4	Tubular atrophy	HP:0000092
261734	NPHP4	Short stature	HP:0004322
261734	NPHP4	Ataxia	HP:0001251
261734	NPHP4	Growth delay	HP:0001510
261734	NPHP4	Polydipsia	HP:0001959
261734	NPHP4	Polyuria	HP:0000103
261734	NPHP4	Retinal dystrophy	HP:0000556
261734	NPHP4	Renal corticomedullary cysts	HP:0000108
261734	NPHP4	Global developmental delay	HP:0001263
261734	NPHP4	Anemia	HP:0001903
261734	NPHP4	Rotary nystagmus	HP:0001583
261734	NPHP4	Congenital hepatic fibrosis	HP:0002612
261734	NPHP4	Severely reduced visual acuity	HP:0001141
261734	NPHP4	Hypertension	HP:0000822
261734	NPHP4	Abnormality of bone mineral density	HP:0004348
261734	NPHP4	Stage 5 chronic kidney disease	HP:0003774
261734	NPHP4	Rod-cone dystrophy	HP:0000510
7784	ZP3	Infertility	HP:0000789
7784	ZP3	Autosomal dominant inheritance	HP:0000006
122481	AK7	Infertility	HP:0000789
56945	MRPS22	Ascites	HP:0001541
56945	MRPS22	Increased circulating gonadotropin level	HP:0000837
56945	MRPS22	Gonadal dysgenesis	HP:0000133
56945	MRPS22	Autosomal recessive inheritance	HP:0000007
56945	MRPS22	Aplasia/Hypoplasia of the breasts	HP:0010311
56945	MRPS22	Edema	HP:0000969
56945	MRPS22	Generalized hypotonia	HP:0001290
56945	MRPS22	Hypoplasia of the uterus	HP:0000013
56945	MRPS22	Spastic tetraplegia	HP:0002510
56945	MRPS22	Arachnodactyly	HP:0001166
56945	MRPS22	Decreased fertility	HP:0000144
56945	MRPS22	Premature ovarian insufficiency	HP:0008209
56945	MRPS22	Primary amenorrhea	HP:0000786
56945	MRPS22	Antenatal onset	HP:0030674
56945	MRPS22	Abnormality of metabolism/homeostasis	HP:0001939
56945	MRPS22	Metabolic acidosis	HP:0001942
56945	MRPS22	Retrognathia	HP:0000278
56945	MRPS22	Decreased serum estradiol	HP:0008214
56945	MRPS22	Abnormality of the amniotic fluid	HP:0001560
56945	MRPS22	Abnormal renal tubule morphology	HP:0000091
56945	MRPS22	Pulmonary fibrosis	HP:0002206
56945	MRPS22	Hypoplasia of the corpus callosum	HP:0002079
56945	MRPS22	Delayed myelination	HP:0012448
56945	MRPS22	Streak ovary	HP:0010464
56945	MRPS22	Seizures	HP:0001250
56945	MRPS22	Short stature	HP:0004322
56945	MRPS22	Ataxia	HP:0001251
56945	MRPS22	Muscular hypotonia	HP:0001252
56945	MRPS22	Redundant neck skin	HP:0005989
56945	MRPS22	Secondary amenorrhea	HP:0000869
56945	MRPS22	Growth delay	HP:0001510
56945	MRPS22	Posteriorly rotated ears	HP:0000358
56945	MRPS22	Hypertrophic cardiomyopathy	HP:0001639
56945	MRPS22	Increased serum lactate	HP:0002151
56945	MRPS22	Muscular hypotonia of the trunk	HP:0008936
56945	MRPS22	Osteopenia	HP:0000938
56945	MRPS22	Aplasia/hypoplasia of the uterus	HP:0008684
56945	MRPS22	Hearing impairment	HP:0000365
56945	MRPS22	Leukoencephalopathy	HP:0002352
56945	MRPS22	Low-set ears	HP:0000369
56945	MRPS22	Sparse pubic hair	HP:0002225
56945	MRPS22	Death in infancy	HP:0001522
56945	MRPS22	Delayed puberty	HP:0000823
56945	MRPS22	Congenital onset	HP:0003577
56945	MRPS22	Osteoporosis of vertebrae	HP:0005625
56945	MRPS22	Microcephaly	HP:0000252
56945	MRPS22	Delayed skeletal maturation	HP:0002750
56947	MFF	External ophthalmoplegia	HP:0000544
56947	MFF	Absent speech	HP:0001344
56947	MFF	Seizures	HP:0001250
56947	MFF	Hyperreflexia	HP:0001347
56947	MFF	Peripheral neuropathy	HP:0009830
56947	MFF	Autosomal recessive inheritance	HP:0000007
56947	MFF	Optic atrophy	HP:0000648
56947	MFF	Spasticity	HP:0001257
56947	MFF	Infantile onset	HP:0003593
56947	MFF	Inability to walk	HP:0002540
56947	MFF	Severe muscular hypotonia	HP:0006829
56947	MFF	Global developmental delay	HP:0001263
56947	MFF	Cerebellar atrophy	HP:0001272
56947	MFF	Visual impairment	HP:0000505
56947	MFF	Hypsarrhythmia	HP:0002521
56947	MFF	Microcephaly	HP:0000252
56947	MFF	Progressive	HP:0003676
56947	MFF	Dysphagia	HP:0002015
7809	BSND	Global glomerulosclerosis	HP:0004737
7809	BSND	Autosomal recessive inheritance	HP:0000007
7809	BSND	Tubulointerstitial fibrosis	HP:0005576
7809	BSND	Edema	HP:0000969
7809	BSND	Increased urinary potassium	HP:0003081
7809	BSND	Generalized hypotonia	HP:0001290
7809	BSND	Heterogeneous	HP:0001425
7809	BSND	Renal insufficiency	HP:0000083
7809	BSND	Hypokalemia	HP:0002900
7809	BSND	Hyponatremia	HP:0002902
7809	BSND	Premature birth	HP:0001622
7809	BSND	Sensorineural hearing impairment	HP:0000407
7809	BSND	Polyhydramnios	HP:0001561
7809	BSND	Fetal polyuria	HP:0001563
7809	BSND	Hyperaldosteronism	HP:0000859
7809	BSND	Intellectual disability	HP:0001249
7809	BSND	Hyperchloriduria	HP:0002914
7809	BSND	Muscular hypotonia	HP:0001252
7809	BSND	Failure to thrive	HP:0001508
7809	BSND	Polyuria	HP:0000103
7809	BSND	Hypochloremia	HP:0003113
7809	BSND	Hypokalemic hypochloremic metabolic alkalosis	HP:0004909
7809	BSND	Hyporeflexia	HP:0001265
7809	BSND	Decreased glomerular filtration rate	HP:0012213
7809	BSND	Motor delay	HP:0001270
7809	BSND	Congenital onset	HP:0003577
7809	BSND	Hydrops fetalis	HP:0001789
7809	BSND	Reduced renal corticomedullary differentiation	HP:0005565
7809	BSND	Hypernatriuria	HP:0012605
7809	BSND	Renal salt wasting	HP:0000127
401024	FSIP2	Infertility	HP:0000789
81545	FBXO38	Pes cavus	HP:0001761
81545	FBXO38	Muscle spasm	HP:0003394
81545	FBXO38	Triceps weakness	HP:0031108
81545	FBXO38	Spinal muscular atrophy	HP:0007269
81545	FBXO38	Autosomal dominant inheritance	HP:0000006
81545	FBXO38	Decreased motor nerve conduction velocity	HP:0003431
81545	FBXO38	Lower limb amyotrophy	HP:0007210
81545	FBXO38	Lower limb muscle weakness	HP:0007340
81545	FBXO38	Fasciculations	HP:0002380
81545	FBXO38	Weakness of the intrinsic hand muscles	HP:0009005
81545	FBXO38	Decreased Achilles reflex	HP:0009072
81545	FBXO38	Difficulty walking	HP:0002355
81545	FBXO38	Variable expressivity	HP:0003828
81545	FBXO38	EMG: chronic denervation signs	HP:0003444
81545	FBXO38	Proximal muscle weakness	HP:0003701
81545	FBXO38	Difficulty running	HP:0009046
81545	FBXO38	Slow progression	HP:0003677
56975	FAM20C	Brachydactyly	HP:0001156
56975	FAM20C	Autosomal recessive inheritance	HP:0000007
56975	FAM20C	Proptosis	HP:0000520
56975	FAM20C	Thoracic hypoplasia	HP:0005257
56975	FAM20C	Delayed cranial suture closure	HP:0000270
56975	FAM20C	Malar flattening	HP:0000272
56975	FAM20C	Retrognathia	HP:0000278
56975	FAM20C	Midface retrusion	HP:0011800
56975	FAM20C	Hypoplasia of dental enamel	HP:0006297
56975	FAM20C	Wide mouth	HP:0000154
56975	FAM20C	Mixed hearing impairment	HP:0000410
56975	FAM20C	Protruding ear	HP:0000411
56975	FAM20C	Depressed nasal bridge	HP:0005280
56975	FAM20C	Narrow mouth	HP:0000160
56975	FAM20C	Micromelia	HP:0002983
56975	FAM20C	Gingival fibromatosis	HP:0000169
56975	FAM20C	Pulmonary hypoplasia	HP:0002089
56975	FAM20C	Cleft palate	HP:0000175
56975	FAM20C	Mandibular prognathia	HP:0000303
56975	FAM20C	Respiratory distress	HP:0002098
56975	FAM20C	Microdontia	HP:0000691
56975	FAM20C	Median cleft lip and palate	HP:0008501
56975	FAM20C	Natal tooth	HP:0000695
56975	FAM20C	Long hallux	HP:0001847
56975	FAM20C	Protruding tongue	HP:0010808
56975	FAM20C	Hypertelorism	HP:0000316
56975	FAM20C	Respiratory failure	HP:0002878
56975	FAM20C	Choanal stenosis	HP:0000452
56975	FAM20C	Choanal atresia	HP:0000453
56975	FAM20C	Hydroureter	HP:0000072
56975	FAM20C	Depressed nasal ridge	HP:0000457
56975	FAM20C	Plagiocephaly	HP:0001357
56975	FAM20C	Anteverted nares	HP:0000463
56975	FAM20C	Cerebral calcification	HP:0002514
56975	FAM20C	Mandibular aplasia	HP:0009939
56975	FAM20C	Elevated alkaline phosphatase	HP:0003155
56975	FAM20C	Gingival overgrowth	HP:0000212
56975	FAM20C	Short neck	HP:0000470
56975	FAM20C	Bowing of the long bones	HP:0006487
56975	FAM20C	High palate	HP:0000218
56975	FAM20C	Micrognathia	HP:0000347
56975	FAM20C	Short stature	HP:0004322
56975	FAM20C	Neonatal death	HP:0003811
56975	FAM20C	Hypophosphatemia	HP:0002148
56975	FAM20C	Posteriorly rotated ears	HP:0000358
56975	FAM20C	Intrauterine growth retardation	HP:0001511
56975	FAM20C	Downslanted palpebral fissures	HP:0000494
56975	FAM20C	Hydrocephalus	HP:0000238
56975	FAM20C	Large fontanelles	HP:0000239
56975	FAM20C	Global developmental delay	HP:0001263
56975	FAM20C	Low-set ears	HP:0000369
56975	FAM20C	Brachyturricephaly	HP:0000244
56975	FAM20C	Arthrogryposis multiplex congenita	HP:0002804
56975	FAM20C	Increased bone mineral density	HP:0011001
56975	FAM20C	Highly arched eyebrow	HP:0002553
56975	FAM20C	Microcephaly	HP:0000252
56975	FAM20C	Short nose	HP:0003196
56975	FAM20C	Hydronephrosis	HP:0000126
56975	FAM20C	Pectus excavatum	HP:0000767
56978	PRDM8	Spastic ataxia	HP:0002497
56978	PRDM8	Seizures	HP:0001250
56978	PRDM8	Hallucinations	HP:0000738
56978	PRDM8	Hyperreflexia	HP:0001347
56978	PRDM8	Ataxia	HP:0001251
56978	PRDM8	Spastic tetraparesis	HP:0001285
56978	PRDM8	Psychosis	HP:0000709
56978	PRDM8	Autosomal recessive inheritance	HP:0000007
56978	PRDM8	Confusion	HP:0001289
56978	PRDM8	Generalized myoclonic seizures	HP:0002123
56978	PRDM8	Dysarthria	HP:0001260
56978	PRDM8	Spastic tetraplegia	HP:0002510
56978	PRDM8	Mental deterioration	HP:0001268
56978	PRDM8	Variable expressivity	HP:0003828
56978	PRDM8	Urinary incontinence	HP:0000020
56978	PRDM8	Dementia	HP:0000726
56978	PRDM8	Myoclonus	HP:0001336
56978	PRDM8	Progressive cerebellar ataxia	HP:0002073
56978	PRDM8	Mutism	HP:0002300
56978	PRDM8	Progressive	HP:0003676
56978	PRDM8	Lafora bodies	HP:0100318
56978	PRDM8	Paranoia	HP:0011999
7827	NPHS2	Focal segmental glomerulosclerosis	HP:0000097
7827	NPHS2	Hypoalbuminemia	HP:0003073
7827	NPHS2	Variable expressivity	HP:0003828
7827	NPHS2	Nephrotic syndrome	HP:0000100
7827	NPHS2	Juvenile onset	HP:0003621
7827	NPHS2	Hyperlipidemia	HP:0003077
7827	NPHS2	Autosomal recessive inheritance	HP:0000007
7827	NPHS2	Edema	HP:0000969
7827	NPHS2	Proteinuria	HP:0000093
7827	NPHS2	Rapidly progressive	HP:0003678
7827	NPHS2	Stage 5 chronic kidney disease	HP:0003774
114327	EFHC1	Abnormality of eye movement	HP:0000496
114327	EFHC1	Generalized tonic-clonic seizures	HP:0002069
114327	EFHC1	Febrile seizures	HP:0002373
114327	EFHC1	Status epilepticus	HP:0002133
114327	EFHC1	Photosensitive tonic-clonic seizures	HP:0007207
114327	EFHC1	EEG with polyspike wave complexes	HP:0002392
114327	EFHC1	Myoclonus	HP:0001336
114327	EFHC1	Morning myoclonic jerks	HP:0007000
114327	EFHC1	Abnormality of the mouth	HP:0000153
114327	EFHC1	Absence seizure	HP:0002121
114327	EFHC1	Aggressive behavior	HP:0000718
56983	POGLUT1	Proximal muscle weakness in lower limbs	HP:0008994
56983	POGLUT1	Elevated serum creatine kinase	HP:0003236
56983	POGLUT1	Epidermal acanthosis	HP:0025092
56983	POGLUT1	Autosomal dominant inheritance	HP:0000006
56983	POGLUT1	Autosomal recessive inheritance	HP:0000007
56983	POGLUT1	Hypergranulosis	HP:0025114
56983	POGLUT1	Scapular winging	HP:0003691
56983	POGLUT1	Slow progression	HP:0003677
56983	POGLUT1	Respiratory insufficiency	HP:0002093
81562	LMAN2L	Intellectual disability, severe	HP:0010864
81562	LMAN2L	Seizures	HP:0001250
81562	LMAN2L	Autosomal recessive inheritance	HP:0000007
81562	LMAN2L	Infantile onset	HP:0003593
81562	LMAN2L	Global developmental delay	HP:0001263
7837	PXDN	Microcornea	HP:0000482
7837	PXDN	Ocular hypertension	HP:0007906
7837	PXDN	Abnormality of the outer ear	HP:0000356
7837	PXDN	Cataract	HP:0000518
7837	PXDN	Autosomal recessive inheritance	HP:0000007
7837	PXDN	Sclerocornea	HP:0000647
7837	PXDN	Microphthalmia	HP:0000568
7837	PXDN	Buphthalmos	HP:0000557
7840	ALMS1	Portal hypertension	HP:0001409
7840	ALMS1	Gynecomastia	HP:0000771
7840	ALMS1	Abnormality of the hand	HP:0001155
7840	ALMS1	Otitis media	HP:0000388
7840	ALMS1	Recurrent pneumonia	HP:0006532
7840	ALMS1	Death in early adulthood	HP:0100613
7840	ALMS1	Chronic otitis media	HP:0000389
7840	ALMS1	Cataract	HP:0000518
7840	ALMS1	Autosomal recessive inheritance	HP:0000007
7840	ALMS1	Subcapsular cataract	HP:0000523
7840	ALMS1	Progressive visual loss	HP:0000529
7840	ALMS1	Polycystic ovaries	HP:0000147
7840	ALMS1	Chronic hepatic failure	HP:0100626
7840	ALMS1	Abnormal chorioretinal morphology	HP:0000532
7840	ALMS1	Progressive sensorineural hearing impairment	HP:0000408
7840	ALMS1	Male hypogonadism	HP:0000026
7840	ALMS1	Abnormality of the urethra	HP:0000795
7840	ALMS1	Recurrent respiratory infections	HP:0002205
7840	ALMS1	Decreased testicular size	HP:0008734
7840	ALMS1	Pulmonary fibrosis	HP:0002206
7840	ALMS1	Decreased HDL cholesterol concentration	HP:0003233
7840	ALMS1	Abnormality of the dentition	HP:0000164
7840	ALMS1	Cone/cone-rod dystrophy	HP:0000548
7840	ALMS1	Truncal obesity	HP:0001956
7840	ALMS1	Abnormal adipose tissue morphology	HP:0009124
7840	ALMS1	Pulmonary arterial hypertension	HP:0002092
7840	ALMS1	Respiratory insufficiency	HP:0002093
7840	ALMS1	Hypergonadotropic hypogonadism	HP:0000815
7840	ALMS1	Tubulointerstitial nephritis	HP:0001970
7840	ALMS1	Asthma	HP:0002099
7840	ALMS1	Hypothyroidism	HP:0000821
7840	ALMS1	Hypertension	HP:0000822
7840	ALMS1	Generalized hirsutism	HP:0002230
7840	ALMS1	Abnormality of female external genitalia	HP:0000055
7840	ALMS1	Round face	HP:0000311
7840	ALMS1	Growth hormone deficiency	HP:0000824
7840	ALMS1	Precocious puberty	HP:0000826
7840	ALMS1	Chronic active hepatitis	HP:0200120
7840	ALMS1	Acanthosis nigricans	HP:0000956
7840	ALMS1	Alopecia	HP:0001596
7840	ALMS1	Visual loss	HP:0000572
7840	ALMS1	Atherosclerosis	HP:0002621
7840	ALMS1	Insulin-resistant diabetes mellitus	HP:0000831
7840	ALMS1	Hepatomegaly	HP:0002240
7840	ALMS1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
7840	ALMS1	Pigmentary retinopathy	HP:0000580
7840	ALMS1	Hyperinsulinemia	HP:0000842
7840	ALMS1	Vesicoureteral reflux	HP:0000076
7840	ALMS1	Depressivity	HP:0000716
7840	ALMS1	Autism	HP:0000717
7840	ALMS1	Renovascular hypertension	HP:0100817
7840	ALMS1	Splenomegaly	HP:0001744
7840	ALMS1	Obsessive-compulsive behavior	HP:0000722
7840	ALMS1	Renal insufficiency	HP:0000083
7840	ALMS1	Glomerulopathy	HP:0100820
7840	ALMS1	Hyperostosis frontalis interna	HP:0004438
7840	ALMS1	Insulin resistance	HP:0000855
7840	ALMS1	Scoliosis	HP:0002650
7840	ALMS1	Menstrual irregularities	HP:0000858
7840	ALMS1	Type II diabetes mellitus	HP:0005978
7840	ALMS1	Elevated hepatic transaminase	HP:0002910
7840	ALMS1	Intellectual disability	HP:0001249
7840	ALMS1	Short stature	HP:0004322
7840	ALMS1	Seizures	HP:0001250
7840	ALMS1	Congestive heart failure	HP:0001635
7840	ALMS1	Multinodular goiter	HP:0005987
7840	ALMS1	Pes planus	HP:0001763
7840	ALMS1	Hyperuricemia	HP:0002149
7840	ALMS1	Photophobia	HP:0000613
7840	ALMS1	Gingivitis	HP:0000230
7840	ALMS1	Diabetes insipidus	HP:0000873
7840	ALMS1	Blindness	HP:0000618
7840	ALMS1	Deeply set eye	HP:0000490
7840	ALMS1	Hypertriglyceridemia	HP:0002155
7840	ALMS1	Dilated cardiomyopathy	HP:0001644
7840	ALMS1	Constriction of peripheral visual field	HP:0001133
7840	ALMS1	Global developmental delay	HP:0001263
7840	ALMS1	Accelerated skeletal maturation	HP:0005616
7840	ALMS1	Cirrhosis	HP:0001394
7840	ALMS1	Hepatic steatosis	HP:0001397
7840	ALMS1	Kyphosis	HP:0002808
7840	ALMS1	Nephrocalcinosis	HP:0000121
7840	ALMS1	Nephritis	HP:0000123
7840	ALMS1	Nystagmus	HP:0000639
7841	MOGS	Hepatomegaly	HP:0002240
7841	MOGS	Blepharophimosis	HP:0000581
7841	MOGS	Recurrent fractures	HP:0002757
7841	MOGS	Autosomal recessive inheritance	HP:0000007
7841	MOGS	Optic atrophy	HP:0000648
7841	MOGS	Short palpebral fissure	HP:0012745
7841	MOGS	Generalized hypotonia	HP:0001290
7841	MOGS	Cerebral atrophy	HP:0002059
7841	MOGS	Prominent occiput	HP:0000269
7841	MOGS	Long eyelashes	HP:0000527
7841	MOGS	Abnormality of metabolism/homeostasis	HP:0001939
7841	MOGS	Retrognathia	HP:0000278
7841	MOGS	Sensorineural hearing impairment	HP:0000407
7841	MOGS	Decreased antibody level in blood	HP:0004313
7841	MOGS	High palate	HP:0000218
7841	MOGS	Hypoplasia of the corpus callosum	HP:0002079
7841	MOGS	Seizures	HP:0001250
7841	MOGS	Failure to thrive	HP:0001508
7841	MOGS	Hand clenching	HP:0001188
7841	MOGS	Muscular hypotonia	HP:0001252
7841	MOGS	Hypoventilation	HP:0002791
7841	MOGS	Feeding difficulties in infancy	HP:0008872
7841	MOGS	Global developmental delay	HP:0001263
7841	MOGS	Hepatic failure	HP:0001399
7841	MOGS	Congenital onset	HP:0003577
7841	MOGS	Wide nose	HP:0000445
7841	MOGS	Overlapping fingers	HP:0010557
7841	MOGS	Thoracic scoliosis	HP:0002943
81570	CLPB	Feeding difficulties	HP:0011968
81570	CLPB	Intellectual disability	HP:0001249
81570	CLPB	Seizures	HP:0001250
81570	CLPB	Growth delay	HP:0001510
81570	CLPB	Cataract	HP:0000518
81570	CLPB	Neonatal hypotonia	HP:0001319
81570	CLPB	Autosomal recessive inheritance	HP:0000007
81570	CLPB	Developmental regression	HP:0002376
81570	CLPB	Spasticity	HP:0001257
81570	CLPB	Cerebral atrophy	HP:0002059
81570	CLPB	Abnormal facial shape	HP:0001999
81570	CLPB	Global developmental delay	HP:0001263
81570	CLPB	Neutropenia	HP:0001875
81570	CLPB	Abnormality of extrapyramidal motor function	HP:0002071
81570	CLPB	Cerebellar atrophy	HP:0001272
81570	CLPB	Abnormal pyramidal sign	HP:0007256
81570	CLPB	Congenital onset	HP:0003577
81570	CLPB	Progressive	HP:0003676
81570	CLPB	Microcephaly	HP:0000252
81570	CLPB	Recurrent infections	HP:0002719
89765	RSPH1	Rhinitis	HP:0012384
89765	RSPH1	Recurrent sinusitis	HP:0011108
89765	RSPH1	Infertility	HP:0000789
89765	RSPH1	Autosomal recessive inheritance	HP:0000007
89765	RSPH1	Ciliary dyskinesia	HP:0012265
89765	RSPH1	Recurrent respiratory infections	HP:0002205
89765	RSPH1	Bronchiectasis	HP:0002110
56997	COQ8A	EMG abnormality	HP:0003457
56997	COQ8A	Hyperreflexia	HP:0001347
56997	COQ8A	Gynecomastia	HP:0000771
56997	COQ8A	Brisk reflexes	HP:0001348
56997	COQ8A	Central hypotonia	HP:0011398
56997	COQ8A	Autosomal recessive inheritance	HP:0000007
56997	COQ8A	Developmental regression	HP:0002376
56997	COQ8A	Generalized hypotonia	HP:0001290
56997	COQ8A	Increased intramyocellular lipid droplets	HP:0012240
56997	COQ8A	Focal T2 hypointense basal ganglia lesion	HP:0012752
56997	COQ8A	Neurodevelopmental delay	HP:0012758
56997	COQ8A	Abnormal pyramidal sign	HP:0007256
56997	COQ8A	Talipes cavus equinovarus	HP:0004696
56997	COQ8A	Progressive cerebellar ataxia	HP:0002073
56997	COQ8A	Exercise intolerance	HP:0003546
56997	COQ8A	Pes cavus	HP:0001761
56997	COQ8A	Intellectual disability	HP:0001249
56997	COQ8A	Seizures	HP:0001250
56997	COQ8A	Ataxia	HP:0001251
56997	COQ8A	Intellectual disability, moderate	HP:0002342
56997	COQ8A	Strabismus	HP:0000486
56997	COQ8A	Increased serum lactate	HP:0002151
56997	COQ8A	Hearing impairment	HP:0000365
56997	COQ8A	Global developmental delay	HP:0001263
56997	COQ8A	Variable expressivity	HP:0003828
56997	COQ8A	Dystonia	HP:0001332
56997	COQ8A	Proximal muscle weakness	HP:0003701
56997	COQ8A	Cerebellar atrophy	HP:0001272
56997	COQ8A	Lactic acidosis	HP:0003128
56997	COQ8A	Myoclonus	HP:0001336
56997	COQ8A	Tremor	HP:0001337
56997	COQ8A	Increased CSF lactate	HP:0002490
7846	TUBA1A	Seizures	HP:0001250
7846	TUBA1A	Ataxia	HP:0001251
7846	TUBA1A	Autosomal dominant inheritance	HP:0000006
7846	TUBA1A	Ventriculomegaly	HP:0002119
7846	TUBA1A	Cerebellar vermis hypoplasia	HP:0001320
7846	TUBA1A	Gray matter heterotopia	HP:0002282
7846	TUBA1A	Agyria	HP:0031882
7846	TUBA1A	Generalized hypotonia	HP:0001290
7846	TUBA1A	Polymicrogyria	HP:0002126
7846	TUBA1A	Spastic tetraplegia	HP:0002510
7846	TUBA1A	Intellectual disability, severe	HP:0010864
7846	TUBA1A	Motor delay	HP:0001270
7846	TUBA1A	Pachygyria	HP:0001302
7846	TUBA1A	Agenesis of corpus callosum	HP:0001274
7846	TUBA1A	Microcephaly	HP:0000252
7846	TUBA1A	Hypoplasia of the brainstem	HP:0002365
7846	TUBA1A	Hypoplasia of the corpus callosum	HP:0002079
7849	PAX8	Feeding difficulties	HP:0011968
7849	PAX8	Umbilical hernia	HP:0001537
7849	PAX8	Stridor	HP:0010307
7849	PAX8	Autosomal dominant inheritance	HP:0000006
7849	PAX8	Abdominal distention	HP:0003270
7849	PAX8	Generalized hypotonia	HP:0001290
7849	PAX8	Large posterior fontanelle	HP:0004491
7849	PAX8	Hoarse cry	HP:0001615
7849	PAX8	Congenital hypothyroidism	HP:0000851
7849	PAX8	Goiter	HP:0000853
7849	PAX8	Hyperbilirubinemia	HP:0002904
7849	PAX8	Coarse facial features	HP:0000280
7849	PAX8	Fatigue	HP:0012378
7849	PAX8	Macroglossia	HP:0000158
7849	PAX8	Short stature	HP:0004322
7849	PAX8	Constipation	HP:0002019
7849	PAX8	Muscular hypotonia	HP:0001252
7849	PAX8	Lethargy	HP:0001254
7849	PAX8	Growth delay	HP:0001510
7849	PAX8	Thyroid hypoplasia	HP:0005990
7849	PAX8	Feeding difficulties in infancy	HP:0008872
7849	PAX8	Muscle weakness	HP:0001324
7849	PAX8	Increased thyroid-stimulating hormone level	HP:0002925
7849	PAX8	Large fontanelles	HP:0000239
7849	PAX8	Global developmental delay	HP:0001263
7849	PAX8	Intellectual disability, severe	HP:0010864
7849	PAX8	Hypersomnia	HP:0100786
7849	PAX8	Hypothyroidism	HP:0000821
7849	PAX8	Jaundice	HP:0000952
7849	PAX8	Hypothermia	HP:0002045
7849	PAX8	Ectopic thyroid	HP:0100028
7849	PAX8	Delayed skeletal maturation	HP:0002750
7849	PAX8	Dry skin	HP:0000958
7849	PAX8	Bradycardia	HP:0001662
7849	PAX8	Thyroid agenesis	HP:0008191
57003	CCDC47	Decreased liver function	HP:0001410
57003	CCDC47	Otitis media	HP:0000388
57003	CCDC47	Narrow chest	HP:0000774
57003	CCDC47	Steatorrhea	HP:0002570
57003	CCDC47	Generalized hypotonia	HP:0001290
57003	CCDC47	Cerebral atrophy	HP:0002059
57003	CCDC47	Synophrys	HP:0000664
57003	CCDC47	Coarse facial features	HP:0000280
57003	CCDC47	Midface retrusion	HP:0011800
57003	CCDC47	Downturned corners of mouth	HP:0002714
57003	CCDC47	Hypermetropia	HP:0000540
57003	CCDC47	Bulbous nose	HP:0000414
57003	CCDC47	Macroglossia	HP:0000158
57003	CCDC47	Recurrent infections	HP:0002719
57003	CCDC47	Coarse hair	HP:0002208
57003	CCDC47	Immunodeficiency	HP:0002721
57003	CCDC47	Curly hair	HP:0002212
57003	CCDC47	Dental crowding	HP:0000678
57003	CCDC47	Central sleep apnea	HP:0010536
57003	CCDC47	Bilateral coxa valga	HP:0010665
57003	CCDC47	Widely spaced teeth	HP:0000687
57003	CCDC47	Woolly hair	HP:0002224
57003	CCDC47	EEG abnormality	HP:0002353
57003	CCDC47	Microdontia	HP:0000691
57003	CCDC47	Distal arthrogryposis	HP:0005684
57003	CCDC47	Overlapping toe	HP:0001845
57003	CCDC47	Cholelithiasis	HP:0001081
57003	CCDC47	Hypertelorism	HP:0000316
57003	CCDC47	Hepatomegaly	HP:0002240
57003	CCDC47	Absent speech	HP:0001344
57003	CCDC47	Plagiocephaly	HP:0001357
57003	CCDC47	Severe global developmental delay	HP:0011344
57003	CCDC47	Elevated alkaline phosphatase	HP:0003155
57003	CCDC47	Narrow forehead	HP:0000341
57003	CCDC47	High palate	HP:0000218
57003	CCDC47	Pruritus	HP:0000989
57003	CCDC47	Cerebral visual impairment	HP:0100704
57003	CCDC47	Talipes equinovarus	HP:0001762
57003	CCDC47	Gastroesophageal reflux	HP:0002020
57003	CCDC47	Hip dysplasia	HP:0001385
57003	CCDC47	Chronic diarrhea	HP:0002028
57003	CCDC47	Joint laxity	HP:0001388
57003	CCDC47	Short foot	HP:0001773
57003	CCDC47	Brachycephaly	HP:0000248
57003	CCDC47	Abnormal corpus callosum morphology	HP:0001273
57003	CCDC47	Abnormality of the pinna	HP:0000377
57003	CCDC47	Microcephaly	HP:0000252
57003	CCDC47	Ptosis	HP:0000508
57003	CCDC47	Pectus excavatum	HP:0000767
7852	CXCR4	Recurrent upper respiratory tract infections	HP:0002788
7852	CXCR4	Autosomal dominant inheritance	HP:0000006
7852	CXCR4	Verrucae	HP:0200043
7852	CXCR4	Abnormality of female internal genitalia	HP:0000008
7852	CXCR4	Infantile onset	HP:0003593
7852	CXCR4	Bone marrow hypercellularity	HP:0031020
7852	CXCR4	Neutropenia	HP:0001875
7852	CXCR4	Abnormality of female external genitalia	HP:0000055
7852	CXCR4	Myelokathexis	HP:0031160
7852	CXCR4	Decreased antibody level in blood	HP:0004313
7852	CXCR4	Abnormality of bone marrow cell morphology	HP:0005561
7852	CXCR4	Decreased circulating IgG level	HP:0004315
7852	CXCR4	Recurrent bacterial infections	HP:0002718
7852	CXCR4	Bronchiectasis	HP:0002110
57010	CABP4	Abnormality of macular pigmentation	HP:0008002
57010	CABP4	Photophobia	HP:0000613
57010	CABP4	Strabismus	HP:0000486
57010	CABP4	Autosomal recessive inheritance	HP:0000007
57010	CABP4	Color vision defect	HP:0000551
57010	CABP4	Reduced visual acuity	HP:0007663
57010	CABP4	Electronegative electroretinogram	HP:0007984
57010	CABP4	Optic disc hypoplasia	HP:0007766
57010	CABP4	Nyctalopia	HP:0000662
57010	CABP4	Visual impairment	HP:0000505
57010	CABP4	Congenital stationary night blindness	HP:0007642
57010	CABP4	High myopia	HP:0011003
57010	CABP4	Nystagmus	HP:0000639
89781	HPS4	Bruising susceptibility	HP:0000978
89781	HPS4	Ocular albinism	HP:0001107
89781	HPS4	Hypoplasia of the fovea	HP:0007750
89781	HPS4	Autosomal recessive inheritance	HP:0000007
89781	HPS4	Horizontal nystagmus	HP:0000666
89781	HPS4	Restrictive ventilatory defect	HP:0002091
89781	HPS4	Abnormal platelet granules	HP:0011883
89781	HPS4	Albinism	HP:0001022
89781	HPS4	Pulmonary fibrosis	HP:0002206
89781	HPS4	Reduced visual acuity	HP:0007663
89780	WNT3A	Recurrent fractures	HP:0002757
89780	WNT3A	Gait disturbance	HP:0001288
89780	WNT3A	Kyphosis	HP:0002808
89780	WNT3A	Vertebral compression fractures	HP:0002953
89780	WNT3A	Osteoporosis	HP:0000939
89780	WNT3A	Bone pain	HP:0002653
7862	BRPF1	Delayed ability to walk	HP:0031936
7862	BRPF1	Feeding difficulties	HP:0011968
7862	BRPF1	Short philtrum	HP:0000322
7862	BRPF1	Blepharophimosis	HP:0000581
7862	BRPF1	Autosomal dominant inheritance	HP:0000006
7862	BRPF1	Generalized hypotonia	HP:0001290
7862	BRPF1	Flat face	HP:0012368
7862	BRPF1	Broad forehead	HP:0000337
7862	BRPF1	Long philtrum	HP:0000343
7862	BRPF1	Downturned corners of mouth	HP:0002714
7862	BRPF1	Wide mouth	HP:0000154
7862	BRPF1	Abnormal myelination	HP:0012447
7862	BRPF1	Narrow mouth	HP:0000160
7862	BRPF1	Camptodactyly	HP:0012385
7862	BRPF1	Intellectual disability	HP:0001249
7862	BRPF1	Short stature	HP:0004322
7862	BRPF1	Talipes equinovarus	HP:0001762
7862	BRPF1	Strabismus	HP:0000486
7862	BRPF1	Intrauterine growth retardation	HP:0001511
7862	BRPF1	Downslanted palpebral fissures	HP:0000494
7862	BRPF1	Delayed speech and language development	HP:0000750
7862	BRPF1	Wide nasal bridge	HP:0000431
7862	BRPF1	Global developmental delay	HP:0001263
7862	BRPF1	Variable expressivity	HP:0003828
7862	BRPF1	Round face	HP:0000311
7862	BRPF1	Congenital onset	HP:0003577
7862	BRPF1	Abnormality of the pinna	HP:0000377
7862	BRPF1	Microcephaly	HP:0000252
7862	BRPF1	Hypertelorism	HP:0000316
7862	BRPF1	Ptosis	HP:0000508
122553	TRAPPC6B	Ataxia	HP:0001251
122553	TRAPPC6B	Hyperreflexia	HP:0001347
122553	TRAPPC6B	Atrophy/Degeneration affecting the brainstem	HP:0007366
122553	TRAPPC6B	Strabismus	HP:0000486
122553	TRAPPC6B	Ventriculomegaly	HP:0002119
122553	TRAPPC6B	Cerebral cortical atrophy	HP:0002120
122553	TRAPPC6B	Global developmental delay	HP:0001263
122553	TRAPPC6B	Intellectual disability, severe	HP:0010864
122553	TRAPPC6B	Cerebellar atrophy	HP:0001272
122553	TRAPPC6B	Tremor	HP:0001337
122553	TRAPPC6B	Progressive	HP:0003676
122553	TRAPPC6B	Stereotypy	HP:0000733
122553	TRAPPC6B	Hypoplasia of the corpus callosum	HP:0002079
122553	TRAPPC6B	Nystagmus	HP:0000639
57017	COQ9	Feeding difficulties	HP:0011968
57017	COQ9	Seizures	HP:0001250
57017	COQ9	Hyperreflexia	HP:0001347
57017	COQ9	Increased serum lactate	HP:0002151
57017	COQ9	Intrauterine growth retardation	HP:0001511
57017	COQ9	Autosomal recessive inheritance	HP:0000007
57017	COQ9	Generalized hypotonia	HP:0001290
57017	COQ9	Cerebral atrophy	HP:0002059
57017	COQ9	Weak cry	HP:0001612
57017	COQ9	Postnatal microcephaly	HP:0005484
57017	COQ9	Respiratory insufficiency	HP:0002093
57017	COQ9	Global developmental delay	HP:0001263
57017	COQ9	Left ventricular hypertrophy	HP:0001712
57017	COQ9	Encephalopathy	HP:0001298
57017	COQ9	Dystonia	HP:0001332
57017	COQ9	Hyperalaninemia	HP:0003348
57017	COQ9	Lactic acidosis	HP:0003128
57017	COQ9	Cerebellar atrophy	HP:0001272
57017	COQ9	Hypertonia	HP:0001276
57017	COQ9	Bradycardia	HP:0001662
7867	MAPKAPK3	Choroidal neovascularization	HP:0011506
7867	MAPKAPK3	Autosomal dominant inheritance	HP:0000006
7867	MAPKAPK3	Macular atrophy	HP:0007401
7867	MAPKAPK3	Rod-cone dystrophy	HP:0000510
7867	MAPKAPK3	Reduced visual acuity	HP:0007663
147138	TMC8	Skin plaque	HP:0200035
147138	TMC8	Papule	HP:0200034
147138	TMC8	Pustule	HP:0200039
147138	TMC8	Verrucae	HP:0200043
147138	TMC8	Telangiectasia of the skin	HP:0100585
147138	TMC8	Seborrheic dermatitis	HP:0001051
147138	TMC8	Squamous cell carcinoma	HP:0002860
147138	TMC8	Multiple cafe-au-lait spots	HP:0007565
147138	TMC8	Recurrent skin infections	HP:0001581
147138	TMC8	Hypopigmented skin patches	HP:0001053
65217	PCDH15	Abnormal electroretinogram	HP:0000512
65217	PCDH15	Aplasia/Hypoplasia of the cerebellum	HP:0007360
65217	PCDH15	Cataract	HP:0000518
65217	PCDH15	Autosomal recessive inheritance	HP:0000007
65217	PCDH15	Cerebral cortical atrophy	HP:0002120
65217	PCDH15	Infantile onset	HP:0003593
65217	PCDH15	Depressivity	HP:0000716
65217	PCDH15	Congenital sensorineural hearing impairment	HP:0008527
65217	PCDH15	Schizophrenia	HP:0100753
65217	PCDH15	Nyctalopia	HP:0000662
65217	PCDH15	Sensorineural hearing impairment	HP:0000407
65217	PCDH15	Vestibular dysfunction	HP:0001751
65217	PCDH15	Hemianopia	HP:0012377
65217	PCDH15	Vestibular hypofunction	HP:0001756
65217	PCDH15	Intellectual disability	HP:0001249
65217	PCDH15	Hallucinations	HP:0000738
65217	PCDH15	Ataxia	HP:0001251
65217	PCDH15	Anxiety	HP:0000739
65217	PCDH15	Abnormality of dental enamel	HP:0000682
65217	PCDH15	Hearing impairment	HP:0000365
65217	PCDH15	Global developmental delay	HP:0001263
65217	PCDH15	Iris hypopigmentation	HP:0007730
65217	PCDH15	High hypermetropia	HP:0008499
65217	PCDH15	Motor delay	HP:0001270
65217	PCDH15	Abnormal cochlea morphology	HP:0000375
65217	PCDH15	Visual loss	HP:0000572
65217	PCDH15	Subcortical cerebral atrophy	HP:0012157
65217	PCDH15	Rod-cone dystrophy	HP:0000510
65217	PCDH15	Scotoma	HP:0000575
81607	NECTIN4	Coarse hair	HP:0002208
81607	NECTIN4	Sparse scalp hair	HP:0002209
81607	NECTIN4	Pili torti	HP:0003777
81607	NECTIN4	Autosomal recessive inheritance	HP:0000007
81607	NECTIN4	Hypoplastic toenails	HP:0001800
81607	NECTIN4	Ectodermal dysplasia	HP:0000968
81607	NECTIN4	Sparse eyelashes	HP:0000653
81607	NECTIN4	2-3 toe cutaneous syndactyly	HP:0005709
81607	NECTIN4	Palmar hyperkeratosis	HP:0010765
81607	NECTIN4	Widely spaced teeth	HP:0000687
81607	NECTIN4	Absent facial hair	HP:0002550
81607	NECTIN4	Sparse and thin eyebrow	HP:0000535
81607	NECTIN4	Patchy alopecia	HP:0002232
81607	NECTIN4	Hypoplasia of dental enamel	HP:0006297
81607	NECTIN4	Cutaneous finger syndactyly	HP:0010554
81607	NECTIN4	Conical tooth	HP:0000698
81607	NECTIN4	Heat intolerance	HP:0002046
7879	RAB7A	Pes cavus	HP:0001761
7879	RAB7A	Pes planus	HP:0001763
7879	RAB7A	Foot dorsiflexor weakness	HP:0009027
7879	RAB7A	Areflexia	HP:0001284
7879	RAB7A	Hammertoe	HP:0001765
7879	RAB7A	Autosomal dominant inheritance	HP:0000006
7879	RAB7A	Decreased motor nerve conduction velocity	HP:0003431
7879	RAB7A	Autoamputation of foot	HP:0001868
7879	RAB7A	Distal amyotrophy	HP:0003693
7879	RAB7A	Steppage gait	HP:0003376
7879	RAB7A	Hyporeflexia	HP:0001265
7879	RAB7A	Sensory impairment	HP:0003474
7879	RAB7A	Axonal degeneration/regeneration	HP:0003378
7879	RAB7A	Dystrophic toenail	HP:0001810
7879	RAB7A	Decreased number of peripheral myelinated nerve fibers	HP:0003380
7879	RAB7A	Peripheral axonal atrophy	HP:0003384
7879	RAB7A	Sensory neuropathy	HP:0000763
7879	RAB7A	Distal muscle weakness	HP:0002460
7879	RAB7A	Foot osteomyelitis	HP:0001886
286410	ATP11C	Hemolytic anemia	HP:0001878
286410	ATP11C	Congenital onset	HP:0003577
57038	RARS2	Absent speech	HP:0001344
57038	RARS2	Hyperreflexia	HP:0001347
57038	RARS2	Atrophy/Degeneration affecting the brainstem	HP:0007366
57038	RARS2	Autosomal recessive inheritance	HP:0000007
57038	RARS2	Generalized hypotonia	HP:0001290
57038	RARS2	Upper limb spasticity	HP:0006986
57038	RARS2	Cerebral atrophy	HP:0002059
57038	RARS2	Lower limb spasticity	HP:0002061
57038	RARS2	Narrow forehead	HP:0000341
57038	RARS2	Progressive	HP:0003676
57038	RARS2	Seizures	HP:0001250
57038	RARS2	Failure to thrive	HP:0001508
57038	RARS2	Increased serum lactate	HP:0002151
57038	RARS2	Cerebellar hypoplasia	HP:0001321
57038	RARS2	Prominent nasal bridge	HP:0000426
57038	RARS2	Deeply set eye	HP:0000490
57038	RARS2	Death in childhood	HP:0003819
57038	RARS2	Global developmental delay	HP:0001263
57038	RARS2	Poor suck	HP:0002033
57038	RARS2	Variable expressivity	HP:0003828
57038	RARS2	Poor head control	HP:0002421
57038	RARS2	Cerebellar atrophy	HP:0001272
57038	RARS2	Apnea	HP:0002104
57038	RARS2	Congenital onset	HP:0003577
57038	RARS2	Increased CSF lactate	HP:0002490
57038	RARS2	Narrow palate	HP:0000189
57038	RARS2	Progressive microcephaly	HP:0000253
81620	CDT1	Genu recurvatum	HP:0002816
81620	CDT1	Microtia, third degree	HP:0011267
81620	CDT1	Aplastic clavicle	HP:0006660
81620	CDT1	Abnormality of the ribs	HP:0000772
81620	CDT1	Autosomal recessive inheritance	HP:0000007
81620	CDT1	Camptodactyly of finger	HP:0100490
81620	CDT1	High, narrow palate	HP:0002705
81620	CDT1	Retrognathia	HP:0000278
81620	CDT1	Slender long bone	HP:0003100
81620	CDT1	Cryptorchidism	HP:0000028
81620	CDT1	Atresia of the external auditory canal	HP:0000413
81620	CDT1	Hypoplasia of penis	HP:0008736
81620	CDT1	Narrow mouth	HP:0000160
81620	CDT1	Anotia	HP:0009892
81620	CDT1	Epispadias	HP:0000039
81620	CDT1	Abnormality of epiphysis morphology	HP:0005930
81620	CDT1	Patellar aplasia	HP:0006443
81620	CDT1	Breast aplasia	HP:0100783
81620	CDT1	Hypospadias	HP:0000047
81620	CDT1	Specific learning disability	HP:0001328
81620	CDT1	Submucous cleft hard palate	HP:0000176
81620	CDT1	Emphysema	HP:0002097
81620	CDT1	Respiratory distress	HP:0002098
81620	CDT1	Thick lower lip vermilion	HP:0000179
81620	CDT1	Severe short stature	HP:0003510
81620	CDT1	Thick vermilion border	HP:0012471
81620	CDT1	Hypoplastic labia majora	HP:0000059
81620	CDT1	Clitoral hypoplasia	HP:0000060
81620	CDT1	Joint hyperflexibility	HP:0005692
81620	CDT1	Respiratory failure	HP:0002878
81620	CDT1	Delayed skeletal maturation	HP:0002750
81620	CDT1	Hypoplastic labia minora	HP:0000064
81620	CDT1	Feeding difficulties	HP:0011968
81620	CDT1	Bifid uvula	HP:0000193
81620	CDT1	Hypoplasia of the maxilla	HP:0000327
81620	CDT1	Mandibular aplasia	HP:0009939
81620	CDT1	Craniosynostosis	HP:0001363
81620	CDT1	Clitoral hypertrophy	HP:0008665
81620	CDT1	Micrognathia	HP:0000347
81620	CDT1	Intellectual disability	HP:0001249
81620	CDT1	Elbow dislocation	HP:0003042
81620	CDT1	Failure to thrive	HP:0001508
81620	CDT1	Posteriorly rotated ears	HP:0000358
81620	CDT1	Intrauterine growth retardation	HP:0001511
81620	CDT1	Microtia	HP:0008551
81620	CDT1	Birth length less than 3rd percentile	HP:0003561
81620	CDT1	Hearing impairment	HP:0000365
81620	CDT1	Global developmental delay	HP:0001263
81620	CDT1	Clinodactyly of the 5th finger	HP:0004209
81620	CDT1	Low-set ears	HP:0000369
81620	CDT1	Breast hypoplasia	HP:0003187
81620	CDT1	Microcephaly	HP:0000252
81620	CDT1	Lateral clavicle hook	HP:0000895
81624	DIAPH3	Absence of acoustic reflex	HP:0008529
81624	DIAPH3	Autosomal dominant inheritance	HP:0000006
81624	DIAPH3	Sensorineural hearing impairment	HP:0000407
81624	DIAPH3	Abnormal speech discrimination	HP:0001963
81624	DIAPH3	Abnormal auditory evoked potentials	HP:0006958
57054	DAZ3	Male infertility	HP:0003251
57054	DAZ3	Non-obstructive azoospermia	HP:0011961
57054	DAZ3	Y-linked inheritance	HP:0001450
57054	DAZ3	Azoospermia	HP:0000027
57054	DAZ3	Cryptorchidism	HP:0000028
57054	DAZ3	Oligospermia	HP:0000798
57054	DAZ3	Decreased testicular size	HP:0008734
57055	DAZ2	Male infertility	HP:0003251
57055	DAZ2	Non-obstructive azoospermia	HP:0011961
57055	DAZ2	Y-linked inheritance	HP:0001450
57055	DAZ2	Azoospermia	HP:0000027
57055	DAZ2	Cryptorchidism	HP:0000028
57055	DAZ2	Oligospermia	HP:0000798
57055	DAZ2	Decreased testicular size	HP:0008734
57057	TBX20	Coarctation of aorta	HP:0001680
57057	TBX20	Autosomal dominant inheritance	HP:0000006
57057	TBX20	Patent foramen ovale	HP:0001655
65250	CPLANE1	Central Y-shaped metacarpal	HP:0006145
65250	CPLANE1	EMG abnormality	HP:0003457
65250	CPLANE1	Clinodactyly	HP:0030084
65250	CPLANE1	Brachydactyly	HP:0001156
65250	CPLANE1	Autosomal recessive inheritance	HP:0000007
65250	CPLANE1	Syndactyly	HP:0001159
65250	CPLANE1	Gait disturbance	HP:0001288
65250	CPLANE1	Hand polydactyly	HP:0001161
65250	CPLANE1	Generalized hypotonia	HP:0001290
65250	CPLANE1	Hypothalamic hamartoma	HP:0002444
65250	CPLANE1	Mesoaxial hand polydactyly	HP:0006159
65250	CPLANE1	Oculomotor apraxia	HP:0000657
65250	CPLANE1	Long face	HP:0000276
65250	CPLANE1	Conductive hearing impairment	HP:0000405
65250	CPLANE1	Preaxial hand polydactyly	HP:0001177
65250	CPLANE1	Hamartoma of tongue	HP:0011802
65250	CPLANE1	Abnormality of the immune system	HP:0002715
65250	CPLANE1	Epicanthus	HP:0000286
65250	CPLANE1	Situs inversus totalis	HP:0001696
65250	CPLANE1	Postaxial polydactyly	HP:0100259
65250	CPLANE1	Preaxial polydactyly	HP:0100258
65250	CPLANE1	Encephalocele	HP:0002084
65250	CPLANE1	Foot polydactyly	HP:0001829
65250	CPLANE1	Mesoaxial polydactyly	HP:0100260
65250	CPLANE1	Cerebellar vermis hypoplasia	HP:0001320
65250	CPLANE1	Feeding difficulties in infancy	HP:0008872
65250	CPLANE1	Prominent nasal bridge	HP:0000426
65250	CPLANE1	Muscle weakness	HP:0001324
65250	CPLANE1	Cleft palate	HP:0000175
65250	CPLANE1	Preaxial foot polydactyly	HP:0001841
65250	CPLANE1	Lobulated tongue	HP:0000180
65250	CPLANE1	Esotropia	HP:0000565
65250	CPLANE1	Apnea	HP:0002104
65250	CPLANE1	Tremor	HP:0001337
65250	CPLANE1	Hypertelorism	HP:0000316
65250	CPLANE1	Episodic tachypnea	HP:0002876
65250	CPLANE1	Abnormality of peripheral nerve conduction	HP:0003134
65250	CPLANE1	Abnormal oral frenulum morphology	HP:0000190
65250	CPLANE1	Accessory oral frenulum	HP:0000191
65250	CPLANE1	Hyperventilation	HP:0002883
65250	CPLANE1	Biparietal narrowing	HP:0004422
65250	CPLANE1	Broad nasal tip	HP:0000455
65250	CPLANE1	Tongue nodules	HP:0000199
65250	CPLANE1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
65250	CPLANE1	Oral cleft	HP:0000202
65250	CPLANE1	Polydactyly	HP:0010442
65250	CPLANE1	Aganglionic megacolon	HP:0002251
65250	CPLANE1	Cleft upper lip	HP:0000204
65250	CPLANE1	Fasciculations	HP:0002380
65250	CPLANE1	Polymicrogyria	HP:0002126
65250	CPLANE1	Anteverted nares	HP:0000463
65250	CPLANE1	Finger clinodactyly	HP:0040019
65250	CPLANE1	Frontal bossing	HP:0002007
65250	CPLANE1	High palate	HP:0000218
65250	CPLANE1	Scoliosis	HP:0002650
65250	CPLANE1	Micrognathia	HP:0000347
65250	CPLANE1	Abnormal heart morphology	HP:0001627
65250	CPLANE1	Abnormality of neuronal migration	HP:0002269
65250	CPLANE1	Degeneration of anterior horn cells	HP:0002398
65250	CPLANE1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
65250	CPLANE1	Intellectual disability	HP:0001249
65250	CPLANE1	Short stature	HP:0004322
65250	CPLANE1	Seizures	HP:0001250
65250	CPLANE1	Ataxia	HP:0001251
65250	CPLANE1	Muscular hypotonia	HP:0001252
65250	CPLANE1	Failure to thrive	HP:0001508
65250	CPLANE1	Iris coloboma	HP:0000612
65250	CPLANE1	Posteriorly rotated ears	HP:0000358
65250	CPLANE1	Strabismus	HP:0000486
65250	CPLANE1	Renal agenesis	HP:0000104
65250	CPLANE1	Toe syndactyly	HP:0001770
65250	CPLANE1	Distal upper limb amyotrophy	HP:0007149
65250	CPLANE1	Renal dysplasia	HP:0000110
65250	CPLANE1	Hydrocephalus	HP:0000238
65250	CPLANE1	Global developmental delay	HP:0001263
65250	CPLANE1	Abnormal form of the vertebral bodies	HP:0003312
65250	CPLANE1	Low-set, posteriorly rotated ears	HP:0000368
65250	CPLANE1	Low-set ears	HP:0000369
65250	CPLANE1	Bilateral cryptorchidism	HP:0008689
65250	CPLANE1	Molar tooth sign on MRI	HP:0002419
65250	CPLANE1	Highly arched eyebrow	HP:0002553
65250	CPLANE1	Radial deviation of finger	HP:0009466
65250	CPLANE1	Ptosis	HP:0000508
65250	CPLANE1	Midline notch of upper alveolar ridge	HP:0009084
65250	CPLANE1	Hypoplasia of olfactory tract	HP:0007036
65250	CPLANE1	Nystagmus	HP:0000639
57061	HYMAI	Umbilical hernia	HP:0001537
57061	HYMAI	Hyperglycemia	HP:0003074
57061	HYMAI	Glycosuria	HP:0003076
57061	HYMAI	Steatorrhea	HP:0002570
57061	HYMAI	Apraxia	HP:0002186
57061	HYMAI	Hypoplastic fingernail	HP:0001804
57061	HYMAI	Prominent occiput	HP:0000269
57061	HYMAI	Generalized tonic-clonic seizures	HP:0002069
57061	HYMAI	Retrognathia	HP:0000278
57061	HYMAI	Dehydration	HP:0001944
57061	HYMAI	Oligohydramnios	HP:0001562
57061	HYMAI	Downturned corners of mouth	HP:0002714
57061	HYMAI	Cryptorchidism	HP:0000028
57061	HYMAI	Abnormality of the placenta	HP:0100767
57061	HYMAI	Macroglossia	HP:0000158
57061	HYMAI	Weight loss	HP:0001824
57061	HYMAI	Precocious puberty	HP:0000826
57061	HYMAI	Transient neonatal diabetes mellitus	HP:0008255
57061	HYMAI	Prominent nose	HP:0000448
57061	HYMAI	Hepatomegaly	HP:0002240
57061	HYMAI	Labial hypertrophy	HP:0000065
57061	HYMAI	Postnatal growth retardation	HP:0008897
57061	HYMAI	Shallow orbits	HP:0000586
57061	HYMAI	Generalized myoclonic seizures	HP:0002123
57061	HYMAI	Abnormality of the pancreatic islet cells	HP:0006476
57061	HYMAI	Bilateral ptosis	HP:0001488
57061	HYMAI	Neonatal respiratory distress	HP:0002643
57061	HYMAI	Gingival overgrowth	HP:0000212
57061	HYMAI	Neonatal insulin-dependent diabetes mellitus	HP:0000857
57061	HYMAI	High palate	HP:0000218
57061	HYMAI	Micrognathia	HP:0000347
57061	HYMAI	Abnormal heart morphology	HP:0001627
57061	HYMAI	Ventricular septal defect	HP:0001629
57061	HYMAI	Intellectual disability	HP:0001249
57061	HYMAI	Hypovolemia	HP:0011106
57061	HYMAI	Failure to thrive	HP:0001508
57061	HYMAI	Muscular hypotonia	HP:0001252
57061	HYMAI	Intrauterine growth retardation	HP:0001511
57061	HYMAI	Ketonuria	HP:0002919
57061	HYMAI	Cardiomegaly	HP:0001640
57061	HYMAI	Abnormality of earlobe	HP:0000363
57061	HYMAI	Patent ductus arteriosus	HP:0001643
57061	HYMAI	Coma	HP:0001259
57061	HYMAI	Joint laxity	HP:0001388
57061	HYMAI	Small anterior fontanelle	HP:0000237
57061	HYMAI	Hearing impairment	HP:0000365
57061	HYMAI	Prominent metopic ridge	HP:0005487
57061	HYMAI	Global developmental delay	HP:0001263
57061	HYMAI	Arthrogryposis multiplex congenita	HP:0002804
57061	HYMAI	Severe failure to thrive	HP:0001525
57061	HYMAI	Motor delay	HP:0001270
57061	HYMAI	Contractures of the joints of the lower limbs	HP:0005750
57061	HYMAI	Renal tubular dysfunction	HP:0000124
7915	ALDH5A1	Behavioral abnormality	HP:0000708
7915	ALDH5A1	Psychosis	HP:0000709
7915	ALDH5A1	Autosomal recessive inheritance	HP:0000007
7915	ALDH5A1	Absence seizure	HP:0002121
7915	ALDH5A1	Infantile onset	HP:0003593
7915	ALDH5A1	Generalized hypotonia	HP:0001290
7915	ALDH5A1	Generalized myoclonic seizures	HP:0002123
7915	ALDH5A1	Psychomotor retardation	HP:0025356
7915	ALDH5A1	Autism	HP:0000717
7915	ALDH5A1	Aggressive behavior	HP:0000718
7915	ALDH5A1	Abnormality of metabolism/homeostasis	HP:0001939
7915	ALDH5A1	Status epilepticus	HP:0002133
7915	ALDH5A1	Generalized tonic-clonic seizures	HP:0002069
7915	ALDH5A1	Intellectual disability	HP:0001249
7915	ALDH5A1	Hallucinations	HP:0000738
7915	ALDH5A1	Ataxia	HP:0001251
7915	ALDH5A1	Anxiety	HP:0000739
7915	ALDH5A1	Muscular hypotonia	HP:0001252
7915	ALDH5A1	Self-injurious behavior	HP:0100716
7915	ALDH5A1	Delayed speech and language development	HP:0000750
7915	ALDH5A1	Global developmental delay	HP:0001263
7915	ALDH5A1	Hyperactivity	HP:0000752
7915	ALDH5A1	Abnormality of eye movement	HP:0000496
7915	ALDH5A1	Hyporeflexia	HP:0001265
7915	ALDH5A1	EEG abnormality	HP:0002353
7915	ALDH5A1	Motor delay	HP:0001270
7915	ALDH5A1	Hyperkinesis	HP:0002487
65260	COA7	Hepatomegaly	HP:0002240
65260	COA7	Decreased liver function	HP:0001410
65260	COA7	Pigmentary retinopathy	HP:0000580
65260	COA7	Glycosuria	HP:0003076
65260	COA7	Autosomal recessive inheritance	HP:0000007
65260	COA7	Optic atrophy	HP:0000648
65260	COA7	Generalized hypotonia	HP:0001290
65260	COA7	Renal Fanconi syndrome	HP:0001994
65260	COA7	Increased intramyocellular lipid droplets	HP:0012240
65260	COA7	Heterogeneous	HP:0001425
65260	COA7	Mitochondrial inheritance	HP:0001427
65260	COA7	Sensorineural hearing impairment	HP:0000407
65260	COA7	Exercise intolerance	HP:0003546
65260	COA7	Aminoaciduria	HP:0003355
65260	COA7	Proteinuria	HP:0000093
65260	COA7	Intellectual disability	HP:0001249
65260	COA7	Seizures	HP:0001250
65260	COA7	Ataxia	HP:0001251
65260	COA7	Failure to thrive	HP:0001508
65260	COA7	Muscular hypotonia	HP:0001252
65260	COA7	Increased hepatocellular lipid droplets	HP:0006565
65260	COA7	Hyperphosphaturia	HP:0003109
65260	COA7	Hypertrophic cardiomyopathy	HP:0001639
65260	COA7	Increased serum lactate	HP:0002151
65260	COA7	Cytochrome C oxidase-negative muscle fibers	HP:0003688
65260	COA7	Global developmental delay	HP:0001263
65260	COA7	Anemia	HP:0001903
65260	COA7	Leukoencephalopathy	HP:0002352
65260	COA7	Respiratory distress	HP:0002098
65260	COA7	Motor delay	HP:0001270
65260	COA7	Lactic acidosis	HP:0003128
65260	COA7	Increased CSF lactate	HP:0002490
65260	COA7	Exertional dyspnea	HP:0002875
65260	COA7	Respiratory insufficiency due to muscle weakness	HP:0002747
65260	COA7	Renal tubular dysfunction	HP:0000124
65260	COA7	Ptosis	HP:0000508
147183	KRT25	Sparse scalp hair	HP:0002209
147183	KRT25	Curly hair	HP:0002212
147183	KRT25	Fine hair	HP:0002213
147183	KRT25	Strabismus	HP:0000486
147183	KRT25	Cataract	HP:0000518
147183	KRT25	Autosomal recessive inheritance	HP:0000007
147183	KRT25	Abnormal pupil morphology	HP:0000615
147183	KRT25	Slow-growing hair	HP:0002217
147183	KRT25	Sparse eyelashes	HP:0000653
147183	KRT25	Hypotrichosis	HP:0001006
147183	KRT25	Woolly hair	HP:0002224
147183	KRT25	Sparse body hair	HP:0002231
147183	KRT25	Sparse lateral eyebrow	HP:0005338
147183	KRT25	Brittle hair	HP:0002299
147183	KRT25	Trichorrhexis nodosa	HP:0009886
147183	KRT25	Hypopigmentation of hair	HP:0005599
147183	KRT25	Abnormal retinal morphology	HP:0000479
65266	WNK4	Pseudohypoaldosteronism	HP:0008242
65266	WNK4	Hyperchloremic metabolic acidosis	HP:0004918
65266	WNK4	Hypertension	HP:0000822
65266	WNK4	Autosomal dominant inheritance	HP:0000006
65266	WNK4	Hyperkalemia	HP:0002153
65266	WNK4	Hyperchloremia	HP:0011423
401138	AMTN	Amelogenesis imperfecta	HP:0000705
57082	KNL1	Hyperreflexia	HP:0001347
57082	KNL1	Upslanted palpebral fissure	HP:0000582
57082	KNL1	Ventriculomegaly	HP:0002119
57082	KNL1	Autosomal recessive inheritance	HP:0000007
57082	KNL1	Vesicoureteral reflux	HP:0000076
57082	KNL1	Aggressive behavior	HP:0000718
57082	KNL1	Sloping forehead	HP:0000340
57082	KNL1	Pachygyria	HP:0001302
57082	KNL1	Synophrys	HP:0000664
57082	KNL1	Thin upper lip vermilion	HP:0000219
57082	KNL1	Micrognathia	HP:0000347
57082	KNL1	Abnormal cortical bone morphology	HP:0003103
57082	KNL1	Intellectual disability	HP:0001249
57082	KNL1	Short stature	HP:0004322
57082	KNL1	Hypoplasia of the frontal lobes	HP:0007333
57082	KNL1	Impulsivity	HP:0100710
57082	KNL1	Gray matter heterotopia	HP:0002282
57082	KNL1	Delayed speech and language development	HP:0000750
57082	KNL1	Global developmental delay	HP:0001263
57082	KNL1	Intellectual disability, severe	HP:0010864
57082	KNL1	Bimanual synkinesia	HP:0001335
57082	KNL1	Unilateral renal agenesis	HP:0000122
57082	KNL1	Agenesis of corpus callosum	HP:0001274
57082	KNL1	Microcephaly	HP:0000252
57082	KNL1	Hypertelorism	HP:0000316
57082	KNL1	Thick eyebrow	HP:0000574
122622	ADSSL1	Muscle fiber splitting	HP:0003555
122622	ADSSL1	Facial palsy	HP:0010628
122622	ADSSL1	Mildly elevated creatine kinase	HP:0008180
122622	ADSSL1	Autosomal recessive inheritance	HP:0000007
122622	ADSSL1	Hyporeflexia of lower limbs	HP:0002600
122622	ADSSL1	Slow progression	HP:0003677
122622	ADSSL1	Distal amyotrophy	HP:0003693
122622	ADSSL1	Rimmed vacuoles	HP:0003805
122622	ADSSL1	Myopathy	HP:0003198
7941	PLA2G7	Increased level of platelet-activating factor	HP:0040178
7941	PLA2G7	Platelet-activating factor acetylhydrolase deficiency	HP:0040175
57094	CPA6	Seizures	HP:0001250
57094	CPA6	Generalized tonic-clonic seizures	HP:0002069
57094	CPA6	Febrile seizures	HP:0002373
57094	CPA6	Autosomal dominant inheritance	HP:0000006
57094	CPA6	Autosomal recessive inheritance	HP:0000007
57094	CPA6	Hippocampal atrophy	HP:0410170
57096	RPGRIP1	Abnormal electroretinogram	HP:0000512
57096	RPGRIP1	Multicystic kidney dysplasia	HP:0000003
57096	RPGRIP1	Cataract	HP:0000518
57096	RPGRIP1	Autosomal recessive inheritance	HP:0000007
57096	RPGRIP1	Sclerocornea	HP:0000647
57096	RPGRIP1	Optic atrophy	HP:0000648
57096	RPGRIP1	Undetectable light- and dark-adapted electroretinogram	HP:0007688
57096	RPGRIP1	Postaxial hand polydactyly	HP:0001162
57096	RPGRIP1	Pendular nystagmus	HP:0012043
57096	RPGRIP1	Anophthalmia	HP:0000528
57096	RPGRIP1	Anencephaly	HP:0002323
57096	RPGRIP1	Abnormal chorioretinal morphology	HP:0000532
57096	RPGRIP1	Nyctalopia	HP:0000662
57096	RPGRIP1	Hemiplegia/hemiparesis	HP:0004374
57096	RPGRIP1	Abnormality of retinal pigmentation	HP:0007703
57096	RPGRIP1	Dandy-Walker malformation	HP:0001305
57096	RPGRIP1	Preaxial hand polydactyly	HP:0001177
57096	RPGRIP1	Oligohydramnios	HP:0001562
57096	RPGRIP1	Cryptorchidism	HP:0000028
57096	RPGRIP1	Situs inversus totalis	HP:0001696
57096	RPGRIP1	Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817
57096	RPGRIP1	Attenuation of retinal blood vessels	HP:0007843
57096	RPGRIP1	Encephalocele	HP:0002084
57096	RPGRIP1	Cone/cone-rod dystrophy	HP:0000548
57096	RPGRIP1	Male pseudohermaphroditism	HP:0000037
57096	RPGRIP1	Full cheeks	HP:0000293
57096	RPGRIP1	Undetectable electroretinogram	HP:0000550
57096	RPGRIP1	Postaxial foot polydactyly	HP:0001830
57096	RPGRIP1	Color vision defect	HP:0000551
57096	RPGRIP1	Cleft palate	HP:0000175
57096	RPGRIP1	Cystic liver disease	HP:0006706
57096	RPGRIP1	High hypermetropia	HP:0008499
57096	RPGRIP1	Keratoconus	HP:0000563
57096	RPGRIP1	Congenital hepatic fibrosis	HP:0002612
57096	RPGRIP1	Aplasia/Hypoplasia of the tongue	HP:0010295
57096	RPGRIP1	Microphthalmia	HP:0000568
57096	RPGRIP1	Hypertelorism	HP:0000316
57096	RPGRIP1	Urethral atresia	HP:0000068
57096	RPGRIP1	Ureteral duplication	HP:0000073
57096	RPGRIP1	Pancreatic cysts	HP:0001737
57096	RPGRIP1	Depressed nasal ridge	HP:0000457
57096	RPGRIP1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
57096	RPGRIP1	Asplenia	HP:0001746
57096	RPGRIP1	Accessory spleen	HP:0001747
57096	RPGRIP1	Sloping forehead	HP:0000340
57096	RPGRIP1	Lobar holoprosencephaly	HP:0006870
57096	RPGRIP1	Bowing of the long bones	HP:0006487
57096	RPGRIP1	Micrognathia	HP:0000347
57096	RPGRIP1	Talipes	HP:0001883
57096	RPGRIP1	True hermaphroditism	HP:0010459
57096	RPGRIP1	Furrowed tongue	HP:0000221
57096	RPGRIP1	Abnormality of neuronal migration	HP:0002269
57096	RPGRIP1	Macular degeneration	HP:0000608
57096	RPGRIP1	Intellectual disability	HP:0001249
57096	RPGRIP1	Microcornea	HP:0000482
57096	RPGRIP1	Seizures	HP:0001250
57096	RPGRIP1	Muscular hypotonia	HP:0001252
57096	RPGRIP1	Photophobia	HP:0000613
57096	RPGRIP1	Hearing impairment	HP:0000365
57096	RPGRIP1	Hydrocephalus	HP:0000238
57096	RPGRIP1	Reduced visual acuity	HP:0007663
57096	RPGRIP1	Global developmental delay	HP:0001263
57096	RPGRIP1	Low-set, posteriorly rotated ears	HP:0000368
57096	RPGRIP1	Severely reduced visual acuity	HP:0001141
57096	RPGRIP1	Aplasia/Hypoplasia of the iris	HP:0008053
57096	RPGRIP1	Visual impairment	HP:0000505
57096	RPGRIP1	Abnormality of the optic disc	HP:0012795
57096	RPGRIP1	Microcephaly	HP:0000252
57096	RPGRIP1	Pancreatic fibrosis	HP:0100732
57096	RPGRIP1	Nystagmus	HP:0000639
89869	PLCZ1	Infertility	HP:0000789
89869	PLCZ1	Autosomal recessive inheritance	HP:0000007
57102	C12ORF4	Intellectual disability	HP:0001249
57102	C12ORF4	Shyness	HP:0100962
57102	C12ORF4	Muscular hypotonia	HP:0001252
57102	C12ORF4	Autosomal recessive inheritance	HP:0000007
57102	C12ORF4	Attention deficit hyperactivity disorder	HP:0007018
57102	C12ORF4	Generalized hypotonia	HP:0001290
57102	C12ORF4	Joint laxity	HP:0001388
57102	C12ORF4	Delayed speech and language development	HP:0000750
57102	C12ORF4	Aggressive behavior	HP:0000718
57102	C12ORF4	Global developmental delay	HP:0001263
57102	C12ORF4	Abnormal facial shape	HP:0001999
57102	C12ORF4	Gait ataxia	HP:0002066
57102	C12ORF4	Autistic behavior	HP:0000729
57102	C12ORF4	Epicanthus	HP:0000286
57104	PNPLA2	Hepatomegaly	HP:0002240
57104	PNPLA2	Foot dorsiflexor weakness	HP:0009027
57104	PNPLA2	Areflexia	HP:0001284
57104	PNPLA2	Fatty replacement of skeletal muscle	HP:0012548
57104	PNPLA2	Autosomal recessive inheritance	HP:0000007
57104	PNPLA2	Chronic pancreatitis	HP:0006280
57104	PNPLA2	Generalized hypotonia	HP:0001290
57104	PNPLA2	Pineal cyst	HP:0012683
57104	PNPLA2	Fasciculations	HP:0002380
57104	PNPLA2	Increased intramyocellular lipid droplets	HP:0012240
57104	PNPLA2	Abnormal circulating creatine kinase concentration	HP:0040081
57104	PNPLA2	Neck muscle weakness	HP:0000467
57104	PNPLA2	Difficulty running	HP:0009046
57104	PNPLA2	Sensorineural hearing impairment	HP:0000407
57104	PNPLA2	Exercise intolerance	HP:0003546
57104	PNPLA2	Shoulder girdle muscle weakness	HP:0003547
57104	PNPLA2	Increased lactate dehydrogenase activity	HP:0025435
57104	PNPLA2	Slow progression	HP:0003677
57104	PNPLA2	Rimmed vacuoles	HP:0003805
57104	PNPLA2	Hand muscle weakness	HP:0030237
57104	PNPLA2	Elevated hepatic transaminase	HP:0002910
57104	PNPLA2	Generalized limb muscle atrophy	HP:0009055
57104	PNPLA2	Increased muscle lipid content	HP:0009058
57104	PNPLA2	Short stature	HP:0004322
57104	PNPLA2	Congestive heart failure	HP:0001635
57104	PNPLA2	Elevated serum creatine kinase	HP:0003236
57104	PNPLA2	Pelvic girdle muscle weakness	HP:0003749
57104	PNPLA2	Cardiomyopathy	HP:0001638
57104	PNPLA2	Progressive distal muscle weakness	HP:0009063
57104	PNPLA2	Very long chain fatty acid accumulation	HP:0008167
57104	PNPLA2	Intellectual disability, mild	HP:0001256
57104	PNPLA2	Hypertriglyceridemia	HP:0002155
57104	PNPLA2	Progressive proximal muscle weakness	HP:0009073
57104	PNPLA2	Diabetes mellitus	HP:0000819
57104	PNPLA2	Difficulty walking	HP:0002355
57104	PNPLA2	Variable expressivity	HP:0003828
57104	PNPLA2	Hepatic steatosis	HP:0001397
57104	PNPLA2	Proximal muscle weakness	HP:0003701
57104	PNPLA2	Motor delay	HP:0001270
57104	PNPLA2	Cholecystitis	HP:0001082
57104	PNPLA2	Easy fatigability	HP:0003388
57104	PNPLA2	Adult onset	HP:0003581
57104	PNPLA2	Myalgia	HP:0003326
57104	PNPLA2	Myopathy	HP:0003198
57104	PNPLA2	Gowers sign	HP:0003391
57105	CYSLTR2	Ocular hypertension	HP:0007906
57105	CYSLTR2	Photopsia	HP:0030786
57105	CYSLTR2	Iris melanoma	HP:0011524
57105	CYSLTR2	Zonular cataract	HP:0010920
57105	CYSLTR2	Mydriasis	HP:0011499
57105	CYSLTR2	Inferior lens subluxation	HP:0008494
57105	CYSLTR2	Abnormal visual accommodation	HP:0030800
57105	CYSLTR2	Inflammatory abnormality of the eye	HP:0100533
57105	CYSLTR2	Choroidal melanoma	HP:0012054
57105	CYSLTR2	Ciliary body melanoma	HP:0012055
57105	CYSLTR2	Ocular pain	HP:0200026
57105	CYSLTR2	Abnormality of refraction	HP:0000539
57105	CYSLTR2	Visual loss	HP:0000572
57105	CYSLTR2	Metamorphopsia	HP:0012508
57105	CYSLTR2	Retinal detachment	HP:0000541
57105	CYSLTR2	Vitreous hemorrhage	HP:0007902
57107	PDSS2	Feeding difficulties	HP:0011968
57107	PDSS2	Cerebral visual impairment	HP:0100704
57107	PDSS2	Nephrotic syndrome	HP:0000100
57107	PDSS2	Status epilepticus	HP:0002133
57107	PDSS2	Increased serum lactate	HP:0002151
57107	PDSS2	Autosomal recessive inheritance	HP:0000007
57107	PDSS2	Neonatal hypotonia	HP:0001319
57107	PDSS2	Edema	HP:0000969
57107	PDSS2	Proteinuria	HP:0000093
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	Gait disturbance	HP:0001288
7957	EPM2A	Progressive neurologic deterioration	HP:0002344
7957	EPM2A	Absence seizure	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
81689	ISCA1	Delayed myelination	HP:0012448
81689	ISCA1	Seizures	HP:0001250
81689	ISCA1	Hyperreflexia	HP:0001347
81689	ISCA1	Elevated serum creatine kinase	HP:0003236
81689	ISCA1	Ventriculomegaly	HP:0002119
81689	ISCA1	Increased serum lactate	HP:0002151
81689	ISCA1	Developmental regression	HP:0002376
81689	ISCA1	Infantile onset	HP:0003593
81689	ISCA1	Spasticity	HP:0001257
81689	ISCA1	Global developmental delay	HP:0001263
81689	ISCA1	Leukodystrophy	HP:0002415
81689	ISCA1	Pachygyria	HP:0001302
81689	ISCA1	Progressive	HP:0003676
81693	AMN	Megaloblastic anemia	HP:0001889
81693	AMN	Sensory impairment	HP:0003474
81693	AMN	Malabsorption of Vitamin B12	HP:0200118
81693	AMN	Dementia	HP:0000726
81693	AMN	Vitamin B12 deficiency	HP:0100502
81693	AMN	Childhood onset	HP:0011463
81693	AMN	Autosomal recessive inheritance	HP:0000007
81693	AMN	Paresthesia	HP:0003401
81693	AMN	Confusion	HP:0001289
81693	AMN	Proteinuria	HP:0000093
89884	LHX4	Umbilical hernia	HP:0001537
89884	LHX4	Anterior pituitary agenesis	HP:0010626
89884	LHX4	Anterior pituitary hypoplasia	HP:0010627
89884	LHX4	Autosomal dominant inheritance	HP:0000006
89884	LHX4	Autosomal recessive inheritance	HP:0000007
89884	LHX4	Central hypothyroidism	HP:0011787
89884	LHX4	Amenorrhea	HP:0000141
89884	LHX4	Severe postnatal growth retardation	HP:0008850
89884	LHX4	Primary amenorrhea	HP:0000786
89884	LHX4	Infertility	HP:0000789
89884	LHX4	Abnormal prolactin level	HP:0040086
89884	LHX4	Hypoglycemia	HP:0001943
89884	LHX4	Coarse facial features	HP:0000280
89884	LHX4	Cryptorchidism	HP:0000028
89884	LHX4	Decreased cervical spine mobility	HP:0004637
89884	LHX4	Decreased testicular size	HP:0008734
89884	LHX4	Abnormality of secondary sexual hair	HP:0009888
89884	LHX4	Hypoplasia of penis	HP:0008736
89884	LHX4	Small sella turcica	HP:0010538
89884	LHX4	Osteopenia	HP:0000938
89884	LHX4	Hypogonadotrophic hypogonadism	HP:0000044
89884	LHX4	Hypothyroidism	HP:0000821
89884	LHX4	Pituitary hypothyroidism	HP:0008245
89884	LHX4	Median cleft lip and palate	HP:0008501
89884	LHX4	Delayed puberty	HP:0000823
89884	LHX4	Hypotension	HP:0002615
89884	LHX4	Sleep disturbance	HP:0002360
89884	LHX4	Jaundice	HP:0000952
89884	LHX4	Ectopic anterior pituitary gland	HP:0012731
89884	LHX4	Delayed skeletal maturation	HP:0002750
89884	LHX4	Feeding difficulties	HP:0011968
89884	LHX4	Adrenal hypoplasia	HP:0000835
89884	LHX4	Abdominal distention	HP:0003270
89884	LHX4	Pituitary dwarfism	HP:0000839
89884	LHX4	Aplasia/Hypoplasia of the breasts	HP:0010311
89884	LHX4	Depressed nasal ridge	HP:0000457
89884	LHX4	Oral cleft	HP:0000202
89884	LHX4	Polydactyly	HP:0010442
89884	LHX4	Adrenal insufficiency	HP:0000846
89884	LHX4	Holoprosencephaly	HP:0001360
89884	LHX4	Severe global developmental delay	HP:0011344
89884	LHX4	Marked delay in bone age	HP:0003799
89884	LHX4	Fatigue	HP:0012378
89884	LHX4	Abnormality of the hypothalamus-pituitary axis	HP:0000864
89884	LHX4	Intellectual disability	HP:0001249
89884	LHX4	Short stature	HP:0004322
89884	LHX4	Seizures	HP:0001250
89884	LHX4	Constipation	HP:0002019
89884	LHX4	Muscular hypotonia	HP:0001252
89884	LHX4	Failure to thrive	HP:0001508
89884	LHX4	Decreased circulating ACTH level	HP:0002920
89884	LHX4	Diabetes insipidus	HP:0000873
89884	LHX4	Septo-optic dysplasia	HP:0100842
89884	LHX4	Ectopic posterior pituitary	HP:0011755
89884	LHX4	Global developmental delay	HP:0001263
89884	LHX4	Large fontanelles	HP:0000239
89884	LHX4	Death in infancy	HP:0001522
89884	LHX4	Osteoporosis of vertebrae	HP:0005625
89884	LHX4	Agenesis of corpus callosum	HP:0001274
89884	LHX4	Absence of secondary sex characteristics	HP:0008187
7965	AIMP2	Absent speech	HP:0001344
7965	AIMP2	Seizures	HP:0001250
7965	AIMP2	Low hanging columella	HP:0009765
7965	AIMP2	Infantile onset	HP:0003593
7965	AIMP2	Intellectual disability, profound	HP:0002187
7965	AIMP2	Cerebral atrophy	HP:0002059
7965	AIMP2	Inability to walk	HP:0002540
7965	AIMP2	Leukodystrophy	HP:0002415
7965	AIMP2	Mandibular prognathia	HP:0000303
7965	AIMP2	Anteverted nares	HP:0000463
7965	AIMP2	Gingival overgrowth	HP:0000212
7965	AIMP2	Cerebellar atrophy	HP:0001272
7965	AIMP2	Hypsarrhythmia	HP:0002521
7965	AIMP2	Progressive	HP:0003676
7965	AIMP2	Hypoplasia of the corpus callosum	HP:0002079
57122	NUP107	Hypoalbuminemia	HP:0003073
57122	NUP107	Clinodactyly	HP:0030084
57122	NUP107	Gonadal dysgenesis	HP:0000133
57122	NUP107	Autosomal recessive inheritance	HP:0000007
57122	NUP107	Camptodactyly of finger	HP:0100490
57122	NUP107	Hypoplasia of the uterus	HP:0000013
57122	NUP107	Arachnodactyly	HP:0001166
57122	NUP107	Decreased fertility	HP:0000144
57122	NUP107	Macrotia	HP:0000400
57122	NUP107	Premature ovarian insufficiency	HP:0008209
57122	NUP107	Primary amenorrhea	HP:0000786
57122	NUP107	Abnormality of metabolism/homeostasis	HP:0001939
57122	NUP107	Decreased serum estradiol	HP:0008214
57122	NUP107	Pachygyria	HP:0001302
57122	NUP107	Hemiplegia/hemiparesis	HP:0004374
57122	NUP107	IgA deposition in the glomerulus	HP:0000794
57122	NUP107	Adducted thumb	HP:0001181
57122	NUP107	Pulmonary fibrosis	HP:0002206
57122	NUP107	Minimal change glomerulonephritis	HP:0012579
57122	NUP107	Abnormality of the dentition	HP:0000164
57122	NUP107	Cleft lip	HP:0410030
57122	NUP107	Osteopenia	HP:0000938
57122	NUP107	Diffuse mesangial sclerosis	HP:0001967
57122	NUP107	Cleft palate	HP:0000175
57122	NUP107	Sparse pubic hair	HP:0002225
57122	NUP107	EEG abnormality	HP:0002353
57122	NUP107	Hypercholesterolemia	HP:0003124
57122	NUP107	Delayed puberty	HP:0000823
57122	NUP107	Hypertelorism	HP:0000316
57122	NUP107	Stage 5 chronic kidney disease	HP:0003774
57122	NUP107	Delayed skeletal maturation	HP:0002750
57122	NUP107	Cognitive impairment	HP:0100543
57122	NUP107	Smooth philtrum	HP:0000319
57122	NUP107	Increased circulating gonadotropin level	HP:0000837
57122	NUP107	Aplasia/Hypoplasia of the breasts	HP:0010311
57122	NUP107	Abnormal facial shape	HP:0001999
57122	NUP107	Sloping forehead	HP:0000340
57122	NUP107	Narrow forehead	HP:0000341
57122	NUP107	Premature birth	HP:0001622
57122	NUP107	Partial duplication of thumb phalanx	HP:0009944
57122	NUP107	Hypotelorism	HP:0000601
57122	NUP107	High palate	HP:0000218
57122	NUP107	Micrognathia	HP:0000347
57122	NUP107	Tubular atrophy	HP:0000092
57122	NUP107	Progressive	HP:0003676
57122	NUP107	Proteinuria	HP:0000093
57122	NUP107	Ventricular septal defect	HP:0001629
57122	NUP107	Streak ovary	HP:0010464
57122	NUP107	Focal segmental glomerulosclerosis	HP:0000097
57122	NUP107	Short stature	HP:0004322
57122	NUP107	Abnormality of immune system physiology	HP:0010978
57122	NUP107	Seizures	HP:0001250
57122	NUP107	Ataxia	HP:0001251
57122	NUP107	Nephrotic syndrome	HP:0000100
57122	NUP107	Muscular hypotonia	HP:0001252
57122	NUP107	Secondary amenorrhea	HP:0000869
57122	NUP107	Intrauterine growth retardation	HP:0001511
57122	NUP107	Aqueductal stenosis	HP:0002410
57122	NUP107	Dilated cardiomyopathy	HP:0001644
57122	NUP107	Aplasia/hypoplasia of the uterus	HP:0008684
57122	NUP107	Hearing impairment	HP:0000365
57122	NUP107	Delayed speech and language development	HP:0000750
57122	NUP107	Global developmental delay	HP:0001263
57122	NUP107	Nephropathy	HP:0000112
57122	NUP107	Hypoplasia of the ear cartilage	HP:0100720
57122	NUP107	Variable expressivity	HP:0003828
57122	NUP107	Abnormality of the intervertebral disk	HP:0005108
57122	NUP107	Hiatus hernia	HP:0002036
57122	NUP107	Osteoporosis of vertebrae	HP:0005625
57122	NUP107	Microcephaly	HP:0000252
57122	NUP107	Hypertonia	HP:0001276
89891	WDR34	Macrocephaly	HP:0000256
89891	WDR34	Omphalocele	HP:0001539
89891	WDR34	Brachydactyly	HP:0001156
89891	WDR34	Abnormality of the ribs	HP:0000772
89891	WDR34	Short ribs	HP:0000773
89891	WDR34	Narrow chest	HP:0000774
89891	WDR34	Cataract	HP:0000518
89891	WDR34	Autosomal recessive inheritance	HP:0000007
89891	WDR34	Postaxial hand polydactyly	HP:0001162
89891	WDR34	Urethrovaginal fistula	HP:0008716
89891	WDR34	Abnormal pelvis bone ossification	HP:0009106
89891	WDR34	Abnormality of retinal pigmentation	HP:0007703
89891	WDR34	Dandy-Walker malformation	HP:0001305
89891	WDR34	Preaxial hand polydactyly	HP:0001177
89891	WDR34	Polyhydramnios	HP:0001561
89891	WDR34	Cryptorchidism	HP:0000028
89891	WDR34	Recurrent respiratory infections	HP:0002205
89891	WDR34	Epicanthus	HP:0000286
89891	WDR34	Depressed nasal bridge	HP:0005280
89891	WDR34	Hypoplasia of penis	HP:0008736
89891	WDR34	Postaxial polydactyly	HP:0100259
89891	WDR34	Postaxial foot polydactyly	HP:0001830
89891	WDR34	Micromelia	HP:0002983
89891	WDR34	Feeding difficulties in infancy	HP:0008872
89891	WDR34	Disproportionate short-limb short stature	HP:0008873
89891	WDR34	Pulmonary hypoplasia	HP:0002089
89891	WDR34	Cerebellar hypoplasia	HP:0001321
89891	WDR34	Respiratory insufficiency	HP:0002093
89891	WDR34	Ectopic anus	HP:0004397
89891	WDR34	Aplasia/Hypoplasia of the lungs	HP:0006703
89891	WDR34	Abnormality of the metaphysis	HP:0000944
89891	WDR34	Uterus didelphys	HP:0003762
89891	WDR34	Congenital hepatic fibrosis	HP:0002612
89891	WDR34	Short palm	HP:0004279
89891	WDR34	Bell-shaped thorax	HP:0001591
89891	WDR34	Bifid tongue	HP:0010297
89891	WDR34	Wide nose	HP:0000445
89891	WDR34	Ambiguous genitalia	HP:0000062
89891	WDR34	Short thorax	HP:0010306
89891	WDR34	Bifid epiglottis	HP:0010564
89891	WDR34	Abdominal distention	HP:0003270
89891	WDR34	Cleft upper lip	HP:0000204
89891	WDR34	Short long bone	HP:0003026
89891	WDR34	Renal insufficiency	HP:0000083
89891	WDR34	Cone-shaped epiphysis	HP:0010579
89891	WDR34	Lethal skeletal dysplasia	HP:0005716
89891	WDR34	Abnormality of pelvic girdle bone morphology	HP:0002644
89891	WDR34	Facial cleft	HP:0002006
89891	WDR34	Frontal bossing	HP:0002007
89891	WDR34	Long philtrum	HP:0000343
89891	WDR34	Abnormality of cardiovascular system morphology	HP:0030680
89891	WDR34	Renal hypoplasia	HP:0000089
89891	WDR34	Nephronophthisis	HP:0000090
89891	WDR34	Micrognathia	HP:0000347
89891	WDR34	Skeletal dysplasia	HP:0002652
89891	WDR34	Short stature	HP:0004322
89891	WDR34	Anal atresia	HP:0002023
89891	WDR34	Obesity	HP:0001513
89891	WDR34	Toe syndactyly	HP:0001770
89891	WDR34	Renal cyst	HP:0000107
89891	WDR34	Short foot	HP:0001773
89891	WDR34	Delayed speech and language development	HP:0000750
89891	WDR34	Esophageal atresia	HP:0002032
89891	WDR34	Abnormality of the liver	HP:0001392
89891	WDR34	Nephropathy	HP:0000112
89891	WDR34	Thoracic dysplasia	HP:0006644
89891	WDR34	Absent or minimally ossified vertebral bodies	HP:0004599
89891	WDR34	Horizontal ribs	HP:0000888
89891	WDR34	Abnormality of the clavicle	HP:0000889
89891	WDR34	Nephrocalcinosis	HP:0000121
89891	WDR34	Agenesis of corpus callosum	HP:0001274
89891	WDR34	Hydrops fetalis	HP:0001789
89891	WDR34	Hydronephrosis	HP:0000126
89891	WDR34	Abnormality of the sternum	HP:0000766
89891	WDR34	Rod-cone dystrophy	HP:0000510
89891	WDR34	Lateral clavicle hook	HP:0000895
57128	LYRM4	Feeding difficulties	HP:0011968
57128	LYRM4	Respiratory distress	HP:0002098
57128	LYRM4	Failure to thrive	HP:0001508
57128	LYRM4	Hepatic steatosis	HP:0001397
57128	LYRM4	Neonatal hypotonia	HP:0001319
57128	LYRM4	Autosomal recessive inheritance	HP:0000007
57128	LYRM4	Lactic acidosis	HP:0003128
81704	DOCK8	Eczema	HP:0000964
81704	DOCK8	Chronic otitis media	HP:0000389
81704	DOCK8	Cerebral vasculitis	HP:0005318
81704	DOCK8	Autosomal recessive inheritance	HP:0000007
81704	DOCK8	Infantile onset	HP:0003593
81704	DOCK8	Increased circulating total IgE level	HP:0003212
81704	DOCK8	Recurrent viral infections	HP:0004429
81704	DOCK8	Squamous cell carcinoma of the vulva	HP:0030417
81704	DOCK8	Atopic dermatitis	HP:0001047
81704	DOCK8	Eosinophilia	HP:0001880
81704	DOCK8	Recurrent fungal infections	HP:0002841
81704	DOCK8	Recurrent candida infections	HP:0005401
81704	DOCK8	Subarachnoid hemorrhage	HP:0002138
81704	DOCK8	Decrease in T cell count	HP:0005403
81704	DOCK8	Recurrent bacterial infections	HP:0002718
81704	DOCK8	Recurrent bacterial skin infections	HP:0005406
81704	DOCK8	B lymphocytopenia	HP:0010976
81704	DOCK8	Recurrent sinusitis	HP:0011108
81704	DOCK8	Neoplasm	HP:0002664
81704	DOCK8	Verrucae	HP:0200043
81704	DOCK8	Skin ulcer	HP:0200042
81704	DOCK8	Pneumonia	HP:0002090
81704	DOCK8	Anal canal squamous carcinoma	HP:0006763
81704	DOCK8	Onychomycosis	HP:0012203
81704	DOCK8	Squamous cell carcinoma	HP:0002860
81704	DOCK8	Recurrent sinopulmonary infections	HP:0005425
81704	DOCK8	Asthma	HP:0002099
81704	DOCK8	Hemiplegia	HP:0002301
253738	EBF3	Delayed ability to walk	HP:0031936
253738	EBF3	Triangular face	HP:0000325
253738	EBF3	Autosomal dominant inheritance	HP:0000006
253738	EBF3	Broad nasal tip	HP:0000455
253738	EBF3	Infantile onset	HP:0003593
253738	EBF3	Apraxia	HP:0002186
253738	EBF3	Generalized hypotonia	HP:0001290
253738	EBF3	Myopathic facies	HP:0002058
253738	EBF3	Short chin	HP:0000331
253738	EBF3	Vesicoureteral reflux	HP:0000076
253738	EBF3	Overfolded helix	HP:0000396
253738	EBF3	Deep philtrum	HP:0002002
253738	EBF3	Long face	HP:0000276
253738	EBF3	Prominent forehead	HP:0011220
253738	EBF3	Decreased fetal movement	HP:0001558
253738	EBF3	Synophrys	HP:0000664
253738	EBF3	Downturned corners of mouth	HP:0002714
253738	EBF3	Thin upper lip vermilion	HP:0000219
253738	EBF3	Cryptorchidism	HP:0000028
253738	EBF3	High forehead	HP:0000348
253738	EBF3	Horizontal eyebrow	HP:0011228
253738	EBF3	Stereotypy	HP:0000733
253738	EBF3	Dysmetria	HP:0001310
253738	EBF3	Epicanthus	HP:0000286
253738	EBF3	Dysphagia	HP:0002015
253738	EBF3	Intellectual disability	HP:0001249
253738	EBF3	Short stature	HP:0004322
253738	EBF3	Astigmatism	HP:0000483
253738	EBF3	Gastroesophageal reflux	HP:0002020
253738	EBF3	Posteriorly rotated ears	HP:0000358
253738	EBF3	Strabismus	HP:0000486
253738	EBF3	Prominent nasal bridge	HP:0000426
253738	EBF3	Deeply set eye	HP:0000490
253738	EBF3	Dysarthria	HP:0001260
253738	EBF3	Oval face	HP:0000300
253738	EBF3	Broad chin	HP:0011822
253738	EBF3	Delayed speech and language development	HP:0000750
253738	EBF3	Downslanted palpebral fissures	HP:0000494
253738	EBF3	Global developmental delay	HP:0001263
253738	EBF3	Low-set ears	HP:0000369
253738	EBF3	Inverted nipples	HP:0003186
253738	EBF3	Poor head control	HP:0002421
253738	EBF3	Micropenis	HP:0000054
253738	EBF3	Cerebellar atrophy	HP:0001272
253738	EBF3	Hypertelorism	HP:0000316
253738	EBF3	Microcephaly	HP:0000252
7979	SEM1	Absent hand	HP:0004050
7979	SEM1	Split hand	HP:0001171
7979	SEM1	Finger syndactyly	HP:0006101
7979	SEM1	Oligodactyly	HP:0012165
7979	SEM1	Sensorineural hearing impairment	HP:0000407
7979	SEM1	Aniridia	HP:0000526
57135	DAZ4	Male infertility	HP:0003251
57135	DAZ4	Non-obstructive azoospermia	HP:0011961
57135	DAZ4	Cryptorchidism	HP:0000028
57135	DAZ4	Oligospermia	HP:0000798
57135	DAZ4	Decreased testicular size	HP:0008734
89910	UBE3B	Preauricular skin tag	HP:0000384
89910	UBE3B	Sparse hair	HP:0008070
89910	UBE3B	Intestinal malrotation	HP:0002566
89910	UBE3B	Autosomal recessive inheritance	HP:0000007
89910	UBE3B	Optic atrophy	HP:0000648
89910	UBE3B	Generalized hypotonia	HP:0001290
89910	UBE3B	Arachnodactyly	HP:0001166
89910	UBE3B	Coarctation of aorta	HP:0001680
89910	UBE3B	High, narrow palate	HP:0002705
89910	UBE3B	Thin eyebrow	HP:0045074
89910	UBE3B	Narrow face	HP:0000275
89910	UBE3B	Long face	HP:0000276
89910	UBE3B	Retrognathia	HP:0000278
89910	UBE3B	Sparse and thin eyebrow	HP:0000535
89910	UBE3B	Wide mouth	HP:0000154
89910	UBE3B	Epicanthus	HP:0000286
89910	UBE3B	Carious teeth	HP:0000670
89910	UBE3B	Recurrent infections	HP:0002719
89910	UBE3B	Hypoplasia of the corpus callosum	HP:0002079
89910	UBE3B	Optic disc pallor	HP:0000543
89910	UBE3B	Depressed nasal bridge	HP:0005280
89910	UBE3B	Narrow mouth	HP:0000160
89910	UBE3B	Myopia	HP:0000545
89910	UBE3B	Long palm	HP:0011302
89910	UBE3B	Feeding difficulties in infancy	HP:0008872
89910	UBE3B	Long foot	HP:0001833
89910	UBE3B	Absent eyebrow	HP:0002223
89910	UBE3B	Metatarsus adductus	HP:0001840
89910	UBE3B	Specific learning disability	HP:0001328
89910	UBE3B	Respiratory distress	HP:0002098
89910	UBE3B	Microdontia	HP:0000691
89910	UBE3B	Muscle flaccidity	HP:0010547
89910	UBE3B	Bell-shaped thorax	HP:0001591
89910	UBE3B	Single transverse palmar crease	HP:0000954
89910	UBE3B	Narrow palm	HP:0004283
89910	UBE3B	Diastema	HP:0000699
89910	UBE3B	Hypertelorism	HP:0000316
89910	UBE3B	Respiratory failure	HP:0002878
89910	UBE3B	Smooth philtrum	HP:0000319
89910	UBE3B	Absent speech	HP:0001344
89910	UBE3B	Feeding difficulties	HP:0011968
89910	UBE3B	Short philtrum	HP:0000322
89910	UBE3B	Thin skin	HP:0000963
89910	UBE3B	Blepharophimosis	HP:0000581
89910	UBE3B	Upslanted palpebral fissure	HP:0000582
89910	UBE3B	Ventriculomegaly	HP:0002119
89910	UBE3B	Short palpebral fissure	HP:0012745
89910	UBE3B	Hypocholesterolemia	HP:0003146
89910	UBE3B	Anteverted nares	HP:0000463
89910	UBE3B	Neonatal respiratory distress	HP:0002643
89910	UBE3B	Clitoral hypertrophy	HP:0008665
89910	UBE3B	High palate	HP:0000218
89910	UBE3B	Micrognathia	HP:0000347
89910	UBE3B	Thin upper lip vermilion	HP:0000219
89910	UBE3B	Ventricular septal defect	HP:0001629
89910	UBE3B	Flat occiput	HP:0005469
89910	UBE3B	Atrial septal defect	HP:0001631
89910	UBE3B	Intellectual disability	HP:0001249
89910	UBE3B	Microcornea	HP:0000482
89910	UBE3B	Constipation	HP:0002019
89910	UBE3B	Astigmatism	HP:0000483
89910	UBE3B	Failure to thrive	HP:0001508
89910	UBE3B	Ovoid vertebral bodies	HP:0003300
89910	UBE3B	Strabismus	HP:0000486
89910	UBE3B	Growth delay	HP:0001510
89910	UBE3B	Muscular hypotonia of the trunk	HP:0008936
89910	UBE3B	Thin vermilion border	HP:0000233
89910	UBE3B	Laryngeal stridor	HP:0006511
89910	UBE3B	Global developmental delay	HP:0001263
89910	UBE3B	Chorioretinal dystrophy	HP:0001135
89910	UBE3B	Intellectual disability, severe	HP:0010864
89910	UBE3B	Clinodactyly of the 5th finger	HP:0004209
89910	UBE3B	Low-set ears	HP:0000369
89910	UBE3B	Choroideremia	HP:0001139
89910	UBE3B	Motor delay	HP:0001270
89910	UBE3B	Brachycephaly	HP:0000248
89910	UBE3B	Abnormality of the pinna	HP:0000377
89910	UBE3B	Telecanthus	HP:0000506
89910	UBE3B	Microcephaly	HP:0000252
89910	UBE3B	Short nose	HP:0003196
89910	UBE3B	Ptosis	HP:0000508
89910	UBE3B	Nystagmus	HP:0000639
7991	TUSC3	Intellectual disability	HP:0001249
7991	TUSC3	Autosomal recessive inheritance	HP:0000007
646960	PRSS56	Microcornea	HP:0000482
646960	PRSS56	Ocular hypertension	HP:0007906
646960	PRSS56	Abnormal choroid morphology	HP:0000610
646960	PRSS56	High hypermetropia	HP:0008499
646960	PRSS56	Retinal fold	HP:0008052
646960	PRSS56	Glaucoma	HP:0000501
646960	PRSS56	Strabismus	HP:0000486
646960	PRSS56	Autosomal recessive inheritance	HP:0000007
646960	PRSS56	Scleral thickening	HP:0030823
646960	PRSS56	Abnormality of retinal pigmentation	HP:0007703
646960	PRSS56	Microphthalmia	HP:0000568
7994	KAT6A	Feeding difficulties	HP:0011968
7994	KAT6A	Absent speech	HP:0001344
7994	KAT6A	Laryngomalacia	HP:0001601
7994	KAT6A	Brachydactyly	HP:0001156
7994	KAT6A	Intestinal malrotation	HP:0002566
7994	KAT6A	Autosomal dominant inheritance	HP:0000006
7994	KAT6A	Broad nasal tip	HP:0000455
7994	KAT6A	Optic atrophy	HP:0000648
7994	KAT6A	Plagiocephaly	HP:0001357
7994	KAT6A	Abnormal facial shape	HP:0001999
7994	KAT6A	Neonatal respiratory distress	HP:0002643
7994	KAT6A	Craniosynostosis	HP:0001363
7994	KAT6A	Narrow forehead	HP:0000341
7994	KAT6A	Downturned corners of mouth	HP:0002714
7994	KAT6A	Thin upper lip vermilion	HP:0000219
7994	KAT6A	Cryptorchidism	HP:0000028
7994	KAT6A	Ventricular septal defect	HP:0001629
7994	KAT6A	Epicanthus	HP:0000286
7994	KAT6A	Atrial septal defect	HP:0001631
7994	KAT6A	Muscle stiffness	HP:0003552
7994	KAT6A	Poor speech	HP:0002465
7994	KAT6A	Cerebral visual impairment	HP:0100704
7994	KAT6A	Intellectual disability	HP:0001249
7994	KAT6A	Short stature	HP:0004322
7994	KAT6A	Seizures	HP:0001250
7994	KAT6A	Gastroesophageal reflux	HP:0002020
7994	KAT6A	Abnormality of the dentition	HP:0000164
7994	KAT6A	Strabismus	HP:0000486
7994	KAT6A	Posteriorly rotated ears	HP:0000358
7994	KAT6A	Neonatal hypotonia	HP:0001319
7994	KAT6A	Prominent nasal bridge	HP:0000426
7994	KAT6A	Patent ductus arteriosus	HP:0001643
7994	KAT6A	Cleft palate	HP:0000175
7994	KAT6A	Global developmental delay	HP:0001263
7994	KAT6A	Intellectual disability, severe	HP:0010864
7994	KAT6A	Low-set, posteriorly rotated ears	HP:0000368
7994	KAT6A	Low-set ears	HP:0000369
7994	KAT6A	Respiratory distress	HP:0002098
7994	KAT6A	Preauricular pit	HP:0004467
7994	KAT6A	Microretrognathia	HP:0000308
7994	KAT6A	Dystonia	HP:0001332
7994	KAT6A	Ptosis	HP:0000508
7994	KAT6A	Microcephaly	HP:0000252
7994	KAT6A	Hydronephrosis	HP:0000126
7994	KAT6A	Lacrimal duct stenosis	HP:0007678
57152	SLURP1	Ichthyosis	HP:0008064
57152	SLURP1	Congenital symmetrical palmoplantar keratosis	HP:0007553
57152	SLURP1	Brachydactyly	HP:0001156
57152	SLURP1	Autosomal recessive inheritance	HP:0000007
57152	SLURP1	Subungual hyperkeratosis	HP:0008392
57152	SLURP1	Infantile onset	HP:0003593
57152	SLURP1	Diffuse palmoplantar keratoderma	HP:0007435
57152	SLURP1	Onychogryposis	HP:0001805
57152	SLURP1	Hyperhidrosis	HP:0000975
57152	SLURP1	Fragile nails	HP:0001808
57152	SLURP1	Abnormality of the mouth	HP:0000153
57152	SLURP1	Hyperkeratosis with erythema	HP:0007390
57152	SLURP1	Concave nail	HP:0001598
57152	SLURP1	Erythema	HP:0010783
57158	JPH2	Left ventricular hypertrophy	HP:0001712
57158	JPH2	Ventricular tachycardia	HP:0004756
57158	JPH2	Myocardial fibrosis	HP:0001685
57158	JPH2	Autosomal dominant inheritance	HP:0000006
57158	JPH2	Cardiomyopathy	HP:0001638
57158	JPH2	Palpitations	HP:0001962
57158	JPH2	Dyspnea	HP:0002094
8013	NR4A3	Somatic mutation	HP:0001428
8013	NR4A3	Chondrosarcoma	HP:0006765
57165	GJC2	Slow saccadic eye movements	HP:0000514
57165	GJC2	Facial palsy	HP:0010628
57165	GJC2	Autosomal dominant inheritance	HP:0000006
57165	GJC2	Autosomal recessive inheritance	HP:0000007
57165	GJC2	Optic atrophy	HP:0000648
57165	GJC2	Abnormality of visual evoked potentials	HP:0000649
57165	GJC2	Spastic paraparesis	HP:0002313
57165	GJC2	Infantile onset	HP:0003593
57165	GJC2	Cerebral atrophy	HP:0002059
57165	GJC2	Lower limb spasticity	HP:0002061
57165	GJC2	Rigidity	HP:0002063
57165	GJC2	Progressive spasticity	HP:0002191
57165	GJC2	Spastic gait	HP:0002064
57165	GJC2	Delayed gross motor development	HP:0002194
57165	GJC2	Sensory impairment	HP:0003474
57165	GJC2	Urinary incontinence	HP:0000020
57165	GJC2	Urinary bladder sphincter dysfunction	HP:0002839
57165	GJC2	Sensorineural hearing impairment	HP:0000407
57165	GJC2	Cerebral hypomyelination	HP:0006808
57165	GJC2	Dysmetria	HP:0001310
57165	GJC2	Babinski sign	HP:0003487
57165	GJC2	Hypoplasia of the corpus callosum	HP:0002079
57165	GJC2	Intention tremor	HP:0002080
57165	GJC2	Poor speech	HP:0002465
57165	GJC2	Myopia	HP:0000545
57165	GJC2	Head titubation	HP:0002599
57165	GJC2	Recurrent skin infections	HP:0001581
57165	GJC2	Abnormal auditory evoked potentials	HP:0006958
57165	GJC2	Rotary nystagmus	HP:0001583
57165	GJC2	Leukoencephalopathy	HP:0002352
57165	GJC2	Difficulty walking	HP:0002355
57165	GJC2	Cellulitis	HP:0100658
57165	GJC2	Dystonia	HP:0001332
57165	GJC2	Demyelinating motor neuropathy	HP:0007220
57165	GJC2	Sensory axonal neuropathy	HP:0003390
57165	GJC2	Cognitive impairment	HP:0100543
57165	GJC2	Hyperreflexia	HP:0001347
57165	GJC2	Upper limb spasticity	HP:0006986
57165	GJC2	Abnormality of somatosensory evoked potentials	HP:0007377
57165	GJC2	Scoliosis	HP:0002650
57165	GJC2	Abnormal motor evoked potentials	HP:0012896
57165	GJC2	Pes cavus	HP:0001761
57165	GJC2	Seizures	HP:0001250
57165	GJC2	Ataxia	HP:0001251
57165	GJC2	Constipation	HP:0002019
57165	GJC2	CNS hypomyelination	HP:0003429
57165	GJC2	Strabismus	HP:0000486
57165	GJC2	Decreased motor nerve conduction velocity	HP:0003431
57165	GJC2	Muscular hypotonia of the trunk	HP:0008936
57165	GJC2	Spastic paraplegia	HP:0001258
57165	GJC2	Dysarthria	HP:0001260
57165	GJC2	Lymphedema	HP:0001004
57165	GJC2	Global developmental delay	HP:0001263
57165	GJC2	Leukodystrophy	HP:0002415
57165	GJC2	Choreoathetosis	HP:0001266
57165	GJC2	Incomplete penetrance	HP:0003829
57165	GJC2	Motor delay	HP:0001270
57165	GJC2	Distal sensory impairment	HP:0002936
57167	SALL4	Crossed fused renal ectopia	HP:0004736
57167	SALL4	Vertebral fusion	HP:0002948
57167	SALL4	Aplastic clavicle	HP:0006660
57167	SALL4	Facial palsy	HP:0010628
57167	SALL4	Fused cervical vertebrae	HP:0002949
57167	SALL4	Intestinal malrotation	HP:0002566
57167	SALL4	Autosomal dominant inheritance	HP:0000006
57167	SALL4	Cataract	HP:0000518
57167	SALL4	Absent radius	HP:0003974
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	Rectovaginal fistula	HP:0000143
57167	SALL4	Bladder diverticulum	HP:0000015
57167	SALL4	Conductive hearing impairment	HP:0000405
57167	SALL4	Palpebral fissure narrowing on adduction	HP:0000661
57167	SALL4	Sensorineural hearing impairment	HP:0000407
57167	SALL4	Preaxial hand polydactyly	HP:0001177
57167	SALL4	Arrhythmia	HP:0011675
57167	SALL4	Radioulnar synostosis	HP:0002974
57167	SALL4	Epicanthus	HP:0000286
57167	SALL4	Impaired ocular adduction	HP:0000542
57167	SALL4	External ophthalmoplegia	HP:0000544
57167	SALL4	Short humerus	HP:0005792
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 1st metacarpal	HP:0010034
57167	SALL4	Short distal phalanx of the thumb	HP:0009650
57167	SALL4	Short thumb	HP:0009778
57167	SALL4	Limited elbow movement	HP:0002996
57167	SALL4	Abnormal dermatoglyphics	HP:0007477
57167	SALL4	Leukocytosis	HP:0001974
57167	SALL4	Severe short stature	HP:0003510
57167	SALL4	Chorioretinal coloboma	HP:0000567
57167	SALL4	Microphthalmia	HP:0000568
57167	SALL4	Synostosis of carpal bones	HP:0005048
57167	SALL4	Upper limb muscle hypoplasia	HP:0009016
57167	SALL4	Dilatation	HP:0002617
57167	SALL4	Sandal gap	HP:0001852
57167	SALL4	Hypertelorism	HP:0000316
57167	SALL4	Aplasia of metacarpal bones	HP:0010048
57167	SALL4	Postnatal growth retardation	HP:0008897
57167	SALL4	Duane anomaly	HP:0009921
57167	SALL4	Facial asymmetry	HP:0000324
57167	SALL4	Choanal stenosis	HP:0000452
57167	SALL4	Choanal atresia	HP:0000453
57167	SALL4	Short palpebral fissure	HP:0012745
57167	SALL4	Broad hallux phalanx	HP:0010059
57167	SALL4	Aganglionic megacolon	HP:0002251
57167	SALL4	Abnormality of the nasopharynx	HP:0001739
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	Radial club hand	HP:0004059
57167	SALL4	Talipes	HP:0001883
57167	SALL4	Small thenar eminence	HP:0001245
57167	SALL4	Ventricular septal defect	HP:0001629
57167	SALL4	Atrial septal defect	HP:0001631
57167	SALL4	Retinal coloboma	HP:0000480
57167	SALL4	Microcornea	HP:0000482
57167	SALL4	Spina bifida occulta	HP:0003298
57167	SALL4	Pes planus	HP:0001763
57167	SALL4	Iris coloboma	HP:0000612
57167	SALL4	Tetralogy of Fallot	HP:0001636
57167	SALL4	Strabismus	HP:0000486
57167	SALL4	Carpal synostosis	HP:0009702
57167	SALL4	Renal hypoplasia/aplasia	HP:0008678
57167	SALL4	Anal atresia	HP:0002023
57167	SALL4	Limited wrist movement	HP:0006248
57167	SALL4	Renal malrotation	HP:0004712
57167	SALL4	Renal agenesis	HP:0000104
57167	SALL4	Anal stenosis	HP:0002025
57167	SALL4	Toe syndactyly	HP:0001770
57167	SALL4	Joint stiffness	HP:0001387
57167	SALL4	Impaired convergence	HP:0000619
57167	SALL4	Hearing impairment	HP:0000365
57167	SALL4	Pectoralis major hypoplasia	HP:0008953
57167	SALL4	Visual impairment	HP:0000505
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
8021	NUP214	Acute lymphoblastic leukemia	HP:0006721
8021	NUP214	Somatic mutation	HP:0001428
8021	NUP214	Polygenic inheritance	HP:0010982
8021	NUP214	Autosomal dominant inheritance	HP:0000006
8021	NUP214	Acute myeloid leukemia	HP:0004808
8022	LHX3	Feeding difficulties	HP:0011968
8022	LHX3	Umbilical hernia	HP:0001537
8022	LHX3	Anterior pituitary hypoplasia	HP:0010627
8022	LHX3	Abdominal distention	HP:0003270
8022	LHX3	Pituitary dwarfism	HP:0000839
8022	LHX3	Autosomal recessive inheritance	HP:0000007
8022	LHX3	Oral cleft	HP:0000202
8022	LHX3	Central hypothyroidism	HP:0011787
8022	LHX3	Gonadotropin deficiency	HP:0008213
8022	LHX3	Short neck	HP:0000470
8022	LHX3	Sensorineural hearing impairment	HP:0000407
8022	LHX3	Coarse facial features	HP:0000280
8022	LHX3	Fatigue	HP:0012378
8022	LHX3	Thoracolumbar kyphoscoliosis	HP:0003423
8022	LHX3	Abnormality of the hypothalamus-pituitary axis	HP:0000864
8022	LHX3	Intellectual disability	HP:0001249
8022	LHX3	Short stature	HP:0004322
8022	LHX3	Constipation	HP:0002019
8022	LHX3	Muscular hypotonia	HP:0001252
8022	LHX3	Adrenocorticotropic hormone deficiency	HP:0011748
8022	LHX3	Septo-optic dysplasia	HP:0100842
8022	LHX3	Global developmental delay	HP:0001263
8022	LHX3	Large fontanelles	HP:0000239
8022	LHX3	Pituitary hypothyroidism	HP:0008245
8022	LHX3	Sleep disturbance	HP:0002360
8022	LHX3	Jaundice	HP:0000952
8022	LHX3	Growth hormone deficiency	HP:0000824
8022	LHX3	Hypothalamic luteinizing hormone-releasing hormone deficiency	HP:0012287
57176	VARS2	Seizures	HP:0001250
57176	VARS2	Ataxia	HP:0001251
57176	VARS2	Autosomal recessive inheritance	HP:0000007
57176	VARS2	Infantile onset	HP:0003593
57176	VARS2	Generalized hypotonia	HP:0001290
57176	VARS2	Ptosis	HP:0000508
57176	VARS2	Microcephaly	HP:0000252
57176	VARS2	Progressive external ophthalmoplegia	HP:0000590
57176	VARS2	Abnormal facial shape	HP:0001999
57176	VARS2	Global developmental delay	HP:0001263
8028	MLLT10	Somatic mutation	HP:0001428
8028	MLLT10	Autosomal dominant inheritance	HP:0000006
8028	MLLT10	Acute myeloid leukemia	HP:0004808
8029	CUBN	Megaloblastic anemia	HP:0001889
8029	CUBN	Sensory impairment	HP:0003474
8029	CUBN	Malabsorption of Vitamin B12	HP:0200118
8029	CUBN	Dementia	HP:0000726
8029	CUBN	Vitamin B12 deficiency	HP:0100502
8029	CUBN	Childhood onset	HP:0011463
8029	CUBN	Autosomal recessive inheritance	HP:0000007
8029	CUBN	Paresthesia	HP:0003401
8029	CUBN	Confusion	HP:0001289
8029	CUBN	Proteinuria	HP:0000093
57187	THOC2	Intellectual disability	HP:0001249
57187	THOC2	Short stature	HP:0004322
57187	THOC2	Microphallus	HP:0030260
57187	THOC2	Truncal obesity	HP:0001956
57187	THOC2	Gait disturbance	HP:0001288
57187	THOC2	Cerebellar hypoplasia	HP:0001321
57187	THOC2	Tremor	HP:0001337
57187	THOC2	Generalized hypotonia	HP:0001290
57187	THOC2	Increased body mass index	HP:0031418
57187	THOC2	Gliosis	HP:0002171
57187	THOC2	X-linked recessive inheritance	HP:0001419
57187	THOC2	Microcephaly	HP:0000252
8036	SHOC2	Ichthyosis	HP:0008064
8036	SHOC2	Macrocephaly	HP:0000256
8036	SHOC2	Brachydactyly	HP:0001156
8036	SHOC2	Autosomal dominant inheritance	HP:0000006
8036	SHOC2	Hypoplastic toenails	HP:0001800
8036	SHOC2	Generalized hypotonia	HP:0001290
8036	SHOC2	Long eyelashes	HP:0000527
8036	SHOC2	Macrotia	HP:0000400
8036	SHOC2	Keratosis pilaris	HP:0032152
8036	SHOC2	Polyhydramnios	HP:0001561
8036	SHOC2	Cryptorchidism	HP:0000028
8036	SHOC2	Epicanthus	HP:0000286
8036	SHOC2	Carious teeth	HP:0000670
8036	SHOC2	Hypoplasia of the corpus callosum	HP:0002079
8036	SHOC2	Sparse scalp hair	HP:0002209
8036	SHOC2	Abnormal palate morphology	HP:0000174
8036	SHOC2	Deep palmar crease	HP:0006191
8036	SHOC2	Thick lower lip vermilion	HP:0000179
8036	SHOC2	Hypertelorism	HP:0000316
8036	SHOC2	Delayed skeletal maturation	HP:0002750
8036	SHOC2	Feeding difficulties	HP:0011968
8036	SHOC2	Eczema	HP:0000964
8036	SHOC2	Nasal speech	HP:0001611
8036	SHOC2	Abnormal fingernail morphology	HP:0001231
8036	SHOC2	Anteverted nares	HP:0000463
8036	SHOC2	Webbed neck	HP:0000465
8036	SHOC2	Deep philtrum	HP:0002002
8036	SHOC2	Abnormality of the elbow	HP:0009811
8036	SHOC2	Prominent forehead	HP:0011220
8036	SHOC2	Short neck	HP:0000470
8036	SHOC2	Ventricular septal defect	HP:0001629
8036	SHOC2	Atrial septal defect	HP:0001631
8036	SHOC2	Intellectual disability	HP:0001249
8036	SHOC2	Short stature	HP:0004322
8036	SHOC2	Strabismus	HP:0000486
8036	SHOC2	Posteriorly rotated ears	HP:0000358
8036	SHOC2	Hypertrophic cardiomyopathy	HP:0001639
8036	SHOC2	Loose anagen hair	HP:0040169
8036	SHOC2	Aplasia/Hypoplasia of the eyebrow	HP:0100840
8036	SHOC2	Thin vermilion border	HP:0000233
8036	SHOC2	Pulmonic stenosis	HP:0001642
8036	SHOC2	Joint laxity	HP:0001388
8036	SHOC2	Hearing impairment	HP:0000365
8036	SHOC2	Hydrocephalus	HP:0000238
8036	SHOC2	Hyperactivity	HP:0000752
8036	SHOC2	Low-set, posteriorly rotated ears	HP:0000368
8036	SHOC2	Low-set ears	HP:0000369
8036	SHOC2	Low posterior hairline	HP:0002162
8036	SHOC2	Abnormality of the intervertebral disk	HP:0005108
8036	SHOC2	Short nose	HP:0003196
8036	SHOC2	Pectus excavatum	HP:0000767
57190	SELENON	Bulbar palsy	HP:0001283
57190	SELENON	Autosomal dominant inheritance	HP:0000006
57190	SELENON	Autosomal recessive inheritance	HP:0000007
57190	SELENON	Infantile onset	HP:0003593
57190	SELENON	Generalized hypotonia	HP:0001290
57190	SELENON	Abnormality of the rib cage	HP:0001547
57190	SELENON	Multiple joint contractures	HP:0002828
57190	SELENON	Hamstring contractures	HP:0003089
57190	SELENON	Narrow face	HP:0000275
57190	SELENON	Long face	HP:0000276
57190	SELENON	Calf muscle hypertrophy	HP:0008981
57190	SELENON	Decreased fetal movement	HP:0001558
57190	SELENON	Polyhydramnios	HP:0001561
57190	SELENON	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0004889
57190	SELENON	Cryptorchidism	HP:0000028
57190	SELENON	Type 1 muscle fiber atrophy	HP:0011807
57190	SELENON	Reduced tendon reflexes	HP:0001315
57190	SELENON	Neonatal hypotonia	HP:0001319
57190	SELENON	Pulmonary hypoplasia	HP:0002089
57190	SELENON	Pneumonia	HP:0002090
57190	SELENON	Respiratory insufficiency	HP:0002093
57190	SELENON	Mandibular prognathia	HP:0000303
57190	SELENON	Limb joint contracture	HP:0003121
57190	SELENON	Tented upper lip vermilion	HP:0010804
57190	SELENON	Microretrognathia	HP:0000308
57190	SELENON	Cardiac conduction abnormality	HP:0031546
57190	SELENON	Nocturnal hypoventilation	HP:0002877
57190	SELENON	Gowers sign	HP:0003391
57190	SELENON	Restrictive deficit on pulmonary function testing	HP:0002111
57190	SELENON	Ankle contracture	HP:0006466
57190	SELENON	Nasal speech	HP:0001611
57190	SELENON	Weak cry	HP:0001612
57190	SELENON	High pitched voice	HP:0001620
57190	SELENON	Ophthalmoplegia	HP:0000602
57190	SELENON	Scoliosis	HP:0002650
57190	SELENON	Micrognathia	HP:0000347
57190	SELENON	Flexion contracture	HP:0001371
57190	SELENON	Congenital hip dislocation	HP:0001374
57190	SELENON	Nonprogressive	HP:0003680
57190	SELENON	Mitral valve prolapse	HP:0001634
57190	SELENON	Increased muscle lipid content	HP:0009058
57190	SELENON	Congestive heart failure	HP:0001635
57190	SELENON	Centrally nucleated skeletal muscle fibers	HP:0003687
57190	SELENON	Limited neck flexion	HP:0005991
57190	SELENON	Hip dysplasia	HP:0001385
57190	SELENON	Scapular winging	HP:0003691
57190	SELENON	Dilated cardiomyopathy	HP:0001644
57190	SELENON	Joint laxity	HP:0001388
57190	SELENON	Weakness of facial musculature	HP:0030319
57190	SELENON	Generalized amyotrophy	HP:0003700
57190	SELENON	Proximal muscle weakness	HP:0003701
57190	SELENON	Poor head control	HP:0002421
57190	SELENON	Lumbar hyperlordosis	HP:0002938
57190	SELENON	Myopathy	HP:0003198
57190	SELENON	EMG: myopathic abnormalities	HP:0003458
57190	SELENON	Skeletal muscle atrophy	HP:0003202
57190	SELENON	Right ventricular hypertrophy	HP:0001667
57190	SELENON	Facial palsy	HP:0010628
57190	SELENON	Heterogeneous	HP:0001425
57190	SELENON	Delayed gross motor development	HP:0002194
57190	SELENON	Recurrent respiratory infections	HP:0002205
57190	SELENON	Congenital muscular dystrophy	HP:0003741
57190	SELENON	Abnormality on pulmonary function testing	HP:0030878
57190	SELENON	Type 1 fibers relatively smaller than type 2 fibers	HP:0003755
57190	SELENON	Elbow flexion contracture	HP:0002987
57190	SELENON	Right ventricular failure	HP:0001708
57190	SELENON	Respiratory insufficiency due to muscle weakness	HP:0002747
57190	SELENON	Kyphoscoliosis	HP:0002751
57190	SELENON	Feeding difficulties	HP:0011968
57190	SELENON	Muscle fiber atrophy	HP:0100295
57190	SELENON	Hip contracture	HP:0003273
57190	SELENON	Type 1 and type 2 muscle fiber minicore regions	HP:0003787
57190	SELENON	Waddling gait	HP:0002515
57190	SELENON	Neck muscle weakness	HP:0000467
57190	SELENON	High palate	HP:0000218
57190	SELENON	Dysphagia	HP:0002015
57190	SELENON	Intellectual disability	HP:0001249
57190	SELENON	Short stature	HP:0004322
57190	SELENON	Talipes equinovarus	HP:0001762
57190	SELENON	Pes planus	HP:0001763
57190	SELENON	Failure to thrive	HP:0001508
57190	SELENON	Muscular hypotonia	HP:0001252
57190	SELENON	Increased variability in muscle fiber diameter	HP:0003557
57190	SELENON	Reduced vital capacity	HP:0002792
57190	SELENON	Muscular dystrophy	HP:0003560
57190	SELENON	Spinal rigidity	HP:0003306
57190	SELENON	Hyperlordosis	HP:0003307
57190	SELENON	Knee flexion contracture	HP:0006380
57190	SELENON	Global developmental delay	HP:0001263
57190	SELENON	Fatigable weakness of bulbar muscles	HP:0030192
57190	SELENON	Poor suck	HP:0002033
57190	SELENON	Flexion contracture of finger	HP:0012785
57190	SELENON	Hyporeflexia	HP:0001265
57190	SELENON	Variable expressivity	HP:0003828
57190	SELENON	Mildly elevated creatine kinase	HP:0008180
57190	SELENON	Motor delay	HP:0001270
57190	SELENON	Congenital onset	HP:0003577
57190	SELENON	Ptosis	HP:0000508
57190	SELENON	Generalized muscle weakness	HP:0003324
57190	SELENON	Pectus excavatum	HP:0000767
57190	SELENON	Axial muscle weakness	HP:0003327
57192	MCOLN1	Absent speech	HP:0001344
57192	MCOLN1	Abnormal electroretinogram	HP:0000512
57192	MCOLN1	Genu recurvatum	HP:0002816
57192	MCOLN1	Hypergastrinemia	HP:0500167
57192	MCOLN1	Hyperreflexia	HP:0001347
57192	MCOLN1	Biparietal narrowing	HP:0004422
57192	MCOLN1	Autosomal recessive inheritance	HP:0000007
57192	MCOLN1	Gait disturbance	HP:0001288
57192	MCOLN1	Optic atrophy	HP:0000648
57192	MCOLN1	Infantile onset	HP:0003593
57192	MCOLN1	Generalized hypotonia	HP:0001290
57192	MCOLN1	Abnormality of mucopolysaccharide metabolism	HP:0011020
57192	MCOLN1	Dysplastic corpus callosum	HP:0006989
57192	MCOLN1	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
57192	MCOLN1	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
57192	MCOLN1	Spastic tetraplegia	HP:0002510
57192	MCOLN1	Opacification of the corneal stroma	HP:0007759
57192	MCOLN1	Corneal opacity	HP:0007957
57192	MCOLN1	Palmoplantar keratoderma	HP:0000982
57192	MCOLN1	Abnormality of retinal pigmentation	HP:0007703
57192	MCOLN1	Coarse facial features	HP:0000280
57192	MCOLN1	Abnormality of abdomen morphology	HP:0001438
57192	MCOLN1	Babinski sign	HP:0003487
57192	MCOLN1	Intellectual disability	HP:0001249
57192	MCOLN1	Retinal degeneration	HP:0000546
57192	MCOLN1	Cerebral dysmyelination	HP:0007266
57192	MCOLN1	Ataxia	HP:0001251
57192	MCOLN1	Muscular hypotonia	HP:0001252
57192	MCOLN1	Photophobia	HP:0000613
57192	MCOLN1	Strabismus	HP:0000486
57192	MCOLN1	Everted lower lip vermilion	HP:0000232
57192	MCOLN1	Retinopathy	HP:0000488
57192	MCOLN1	Progressive neurologic deterioration	HP:0002344
57192	MCOLN1	Global developmental delay	HP:0001263
57192	MCOLN1	Abnormal nasal morphology	HP:0005105
57192	MCOLN1	Developmental stagnation	HP:0007281
57192	MCOLN1	EEG abnormality	HP:0002353
57192	MCOLN1	Microdontia	HP:0000691
57192	MCOLN1	Dystonia	HP:0001332
57192	MCOLN1	Cerebellar atrophy	HP:0001272
57192	MCOLN1	Ganglioside accumulation	HP:0004345
57192	MCOLN1	Visual impairment	HP:0000505
57192	MCOLN1	Microcephaly	HP:0000252
57192	MCOLN1	Nystagmus	HP:0000639
221037	JMJD1C	Umbilical hernia	HP:0001537
221037	JMJD1C	Tetany	HP:0001281
221037	JMJD1C	Intestinal malrotation	HP:0002566
221037	JMJD1C	Turricephaly	HP:0000262
221037	JMJD1C	Cataract	HP:0000518
221037	JMJD1C	Hypoplasia of the thymus	HP:0000778
221037	JMJD1C	Abnormal aortic arch morphology	HP:0012303
221037	JMJD1C	Malar flattening	HP:0000272
221037	JMJD1C	Long face	HP:0000276
221037	JMJD1C	Inguinal hernia	HP:0000023
221037	JMJD1C	Polyhydramnios	HP:0001561
221037	JMJD1C	Seborrheic dermatitis	HP:0001051
221037	JMJD1C	Cryptorchidism	HP:0000028
221037	JMJD1C	Hypopigmented skin patches	HP:0001053
221037	JMJD1C	Epicanthus	HP:0000286
221037	JMJD1C	Acne	HP:0001061
221037	JMJD1C	Foot polydactyly	HP:0001829
221037	JMJD1C	Hypospadias	HP:0000047
221037	JMJD1C	Bowel incontinence	HP:0002607
221037	JMJD1C	Specific learning disability	HP:0001328
221037	JMJD1C	Asthma	HP:0002099
221037	JMJD1C	Dysphasia	HP:0002357
221037	JMJD1C	Hypothyroidism	HP:0000821
221037	JMJD1C	Abnormal lung lobation	HP:0002101
221037	JMJD1C	Microphthalmia	HP:0000568
221037	JMJD1C	Cholelithiasis	HP:0001081
221037	JMJD1C	Varicose veins	HP:0002619
221037	JMJD1C	Impaired T cell function	HP:0005435
221037	JMJD1C	Multiple suture craniosynostosis	HP:0011324
221037	JMJD1C	Joint hyperflexibility	HP:0005692
221037	JMJD1C	Hypertelorism	HP:0000316
221037	JMJD1C	Hypoparathyroidism	HP:0000829
221037	JMJD1C	Laryngomalacia	HP:0001601
221037	JMJD1C	Short philtrum	HP:0000322
221037	JMJD1C	Hyperthyroidism	HP:0000836
221037	JMJD1C	Upslanted palpebral fissure	HP:0000582
221037	JMJD1C	Nasal speech	HP:0001611
221037	JMJD1C	Vesicoureteral reflux	HP:0000076
221037	JMJD1C	Thrombocytopenia	HP:0001873
221037	JMJD1C	Hypocalcemia	HP:0002901
221037	JMJD1C	Long philtrum	HP:0000343
221037	JMJD1C	Abnormality of the pharynx	HP:0000600
221037	JMJD1C	Renal hypoplasia	HP:0000089
221037	JMJD1C	Arthritis	HP:0001369
221037	JMJD1C	Scoliosis	HP:0002650
221037	JMJD1C	Micrognathia	HP:0000347
221037	JMJD1C	Arrhinencephaly	HP:0002139
221037	JMJD1C	Ventricular septal defect	HP:0001629
221037	JMJD1C	Atrial septal defect	HP:0001631
221037	JMJD1C	Tetralogy of Fallot	HP:0001636
221037	JMJD1C	Occipital myelomeningocele	HP:0007271
221037	JMJD1C	Abnormal pulmonary valve morphology	HP:0001641
221037	JMJD1C	Attention deficit hyperactivity disorder	HP:0007018
221037	JMJD1C	Patent ductus arteriosus	HP:0001643
221037	JMJD1C	Chronic obstructive pulmonary disease	HP:0006510
221037	JMJD1C	Abnormal aortic valve morphology	HP:0001646
221037	JMJD1C	Retinal arteriolar tortuosity	HP:0001136
221037	JMJD1C	Polycystic kidney dysplasia	HP:0000113
221037	JMJD1C	Low-set ears	HP:0000369
221037	JMJD1C	Posterior embryotoxon	HP:0000627
221037	JMJD1C	Truncus arteriosus	HP:0001660
221037	JMJD1C	Hypertensive crisis	HP:0100735
221037	JMJD1C	Small earlobe	HP:0000385
221037	JMJD1C	Abnormality of the uterus	HP:0000130
221037	JMJD1C	Platybasia	HP:0002691
221037	JMJD1C	Chronic otitis media	HP:0000389
221037	JMJD1C	Bipolar affective disorder	HP:0007302
221037	JMJD1C	Optic atrophy	HP:0000648
221037	JMJD1C	Hand polydactyly	HP:0001161
221037	JMJD1C	Overfolded helix	HP:0000396
221037	JMJD1C	Arachnodactyly	HP:0001166
221037	JMJD1C	Tricuspid atresia	HP:0011662
221037	JMJD1C	Atelectasis	HP:0100750
221037	JMJD1C	Schizophrenia	HP:0100753
221037	JMJD1C	Autoimmunity	HP:0002960
221037	JMJD1C	Conductive hearing impairment	HP:0000405
221037	JMJD1C	Abnormality of the tonsils	HP:0100765
221037	JMJD1C	Carious teeth	HP:0000670
221037	JMJD1C	Bulbous nose	HP:0000414
221037	JMJD1C	Narrow mouth	HP:0000160
221037	JMJD1C	Immunodeficiency	HP:0002721
221037	JMJD1C	Feeding difficulties in infancy	HP:0008872
221037	JMJD1C	Prominent nasal bridge	HP:0000426
221037	JMJD1C	Abnormality of dental enamel	HP:0000682
221037	JMJD1C	Wide nasal bridge	HP:0000431
221037	JMJD1C	Cleft palate	HP:0000175
221037	JMJD1C	Patellar dislocation	HP:0002999
221037	JMJD1C	Multiple renal cysts	HP:0005562
221037	JMJD1C	Gastrointestinal hemorrhage	HP:0002239
221037	JMJD1C	Choanal atresia	HP:0000453
221037	JMJD1C	Aganglionic megacolon	HP:0002251
221037	JMJD1C	Depressivity	HP:0000716
221037	JMJD1C	Autism	HP:0000717
221037	JMJD1C	Splenomegaly	HP:0001744
221037	JMJD1C	Purpura	HP:0000979
221037	JMJD1C	Short neck	HP:0000470
221037	JMJD1C	Short stature	HP:0004322
221037	JMJD1C	Seizures	HP:0001250
221037	JMJD1C	Talipes equinovarus	HP:0001762
221037	JMJD1C	Constipation	HP:0002019
221037	JMJD1C	Anxiety	HP:0000739
221037	JMJD1C	Failure to thrive	HP:0001508
221037	JMJD1C	Gastroesophageal reflux	HP:0002020
221037	JMJD1C	Muscular hypotonia	HP:0001252
221037	JMJD1C	Strabismus	HP:0000486
221037	JMJD1C	Anal atresia	HP:0002023
221037	JMJD1C	Intrauterine growth retardation	HP:0001511
221037	JMJD1C	Corneal neovascularization	HP:0011496
221037	JMJD1C	Intellectual disability, mild	HP:0001256
221037	JMJD1C	Obesity	HP:0001513
221037	JMJD1C	Hydrocephalus	HP:0000238
221037	JMJD1C	Downslanted palpebral fissures	HP:0000494
221037	JMJD1C	Global developmental delay	HP:0001263
221037	JMJD1C	Glaucoma	HP:0000501
221037	JMJD1C	Telecanthus	HP:0000506
221037	JMJD1C	Ptosis	HP:0000508
221037	JMJD1C	Microcephaly	HP:0000252
221037	JMJD1C	Abnormality of the thorax	HP:0000765
221037	JMJD1C	Myalgia	HP:0003326
8048	CSRP3	EMG abnormality	HP:0003457
8048	CSRP3	Lipoatrophy	HP:0100578
8048	CSRP3	Elevated serum creatine kinase	HP:0003236
8048	CSRP3	Autosomal dominant inheritance	HP:0000006
8048	CSRP3	Cardiomyopathy	HP:0001638
8048	CSRP3	Endocardial fibroelastosis	HP:0001706
8048	CSRP3	Dilated cardiomyopathy	HP:0001644
8048	CSRP3	Sudden cardiac death	HP:0001645
8048	CSRP3	Impaired myocardial contractility	HP:0006670
8048	CSRP3	Abnormality of neutrophils	HP:0001874
8048	CSRP3	Ventricular tachycardia	HP:0004756
8048	CSRP3	Paroxysmal atrial fibrillation	HP:0004757
8048	CSRP3	Palmoplantar keratoderma	HP:0000982
8048	CSRP3	Sensorineural hearing impairment	HP:0000407
8048	CSRP3	Myopathy	HP:0003198
8050	PDHX	Autosomal recessive inheritance	HP:0000007
8050	PDHX	Optic atrophy	HP:0000648
8050	PDHX	Unsteady gait	HP:0002317
8050	PDHX	Spastic tetraplegia	HP:0002510
8050	PDHX	Hyperalaninemia	HP:0003348
8050	PDHX	Metabolic acidosis	HP:0001942
8050	PDHX	Increased serum pyruvate	HP:0003542
8050	PDHX	High palate	HP:0000218
8050	PDHX	Epicanthus	HP:0000286
8050	PDHX	Intellectual disability	HP:0001249
8050	PDHX	Seizures	HP:0001250
8050	PDHX	Poor fine motor coordination	HP:0007010
8050	PDHX	Ataxia	HP:0001251
8050	PDHX	Neonatal hypotonia	HP:0001319
8050	PDHX	Poor gross motor coordination	HP:0007015
8050	PDHX	Spastic paraplegia	HP:0001258
8050	PDHX	Global developmental delay	HP:0001263
8050	PDHX	Decreased activity of the pyruvate dehydrogenase complex	HP:0002928
8050	PDHX	Subependymal cysts	HP:0002416
8050	PDHX	Abnormality of eye movement	HP:0000496
8050	PDHX	Trigonocephaly	HP:0000243
8050	PDHX	Variable expressivity	HP:0003828
8050	PDHX	Dystonia	HP:0001332
8050	PDHX	Lactic acidosis	HP:0003128
8050	PDHX	Congenital onset	HP:0003577
8050	PDHX	Partial agenesis of the corpus callosum	HP:0001338
8050	PDHX	Microcephaly	HP:0000252
8050	PDHX	Hypertelorism	HP:0000316
8050	PDHX	Pectus excavatum	HP:0000767
89970	RSPRY1	Thoracolumbar scoliosis	HP:0002944
89970	RSPRY1	Short metacarpal	HP:0010049
89970	RSPRY1	Short femoral neck	HP:0100864
89970	RSPRY1	Autosomal recessive inheritance	HP:0000007
89970	RSPRY1	Generalized hypotonia	HP:0001290
89970	RSPRY1	Narrow pelvis bone	HP:0003275
89970	RSPRY1	Abnormal facial shape	HP:0001999
89970	RSPRY1	Malar flattening	HP:0000272
89970	RSPRY1	Craniosynostosis	HP:0001363
89970	RSPRY1	Short neck	HP:0000470
89970	RSPRY1	Autistic behavior	HP:0000729
89970	RSPRY1	Small epiphyses	HP:0010585
89970	RSPRY1	Platyspondyly	HP:0000926
89970	RSPRY1	Epicanthus	HP:0000286
89970	RSPRY1	Depressed nasal bridge	HP:0005280
89970	RSPRY1	Intellectual disability	HP:0001249
89970	RSPRY1	Short stature	HP:0004322
89970	RSPRY1	Femoral bowing	HP:0002980
89970	RSPRY1	Strabismus	HP:0000486
89970	RSPRY1	Microtia	HP:0008551
89970	RSPRY1	Osteopenia	HP:0000938
89970	RSPRY1	Low-set ears	HP:0000369
89970	RSPRY1	Tented upper lip vermilion	HP:0010804
89970	RSPRY1	Overlapping toe	HP:0001845
89970	RSPRY1	Motor delay	HP:0001270
89970	RSPRY1	Skull asymmetry	HP:0002678
89970	RSPRY1	Thick vermilion border	HP:0012471
89970	RSPRY1	Microcephaly	HP:0000252
89970	RSPRY1	Hypertelorism	HP:0000316
89970	RSPRY1	Short nose	HP:0003196
89970	RSPRY1	Ptosis	HP:0000508
89970	RSPRY1	Proximal femoral epiphysiolysis	HP:0006461
89970	RSPRY1	Delayed skeletal maturation	HP:0002750
114548	NLRP3	Macrocephaly	HP:0000256
114548	NLRP3	Ichthyosis	HP:0008064
114548	NLRP3	Urticaria	HP:0001025
114548	NLRP3	Brachydactyly	HP:0001156
114548	NLRP3	Autosomal dominant inheritance	HP:0000006
114548	NLRP3	Meningitis	HP:0001287
114548	NLRP3	Proptosis	HP:0000520
114548	NLRP3	Optic atrophy	HP:0000648
114548	NLRP3	Infantile onset	HP:0003593
114548	NLRP3	Headache	HP:0002315
114548	NLRP3	Camptodactyly of finger	HP:0100490
114548	NLRP3	Arthralgia	HP:0002829
114548	NLRP3	Sensorineural hearing impairment	HP:0000407
114548	NLRP3	Progressive sensorineural hearing impairment	HP:0000408
114548	NLRP3	Dehydration	HP:0001944
114548	NLRP3	Fever	HP:0001945
114548	NLRP3	Abnormality of the mouth	HP:0000153
114548	NLRP3	Pseudopapilledema	HP:0000538
114548	NLRP3	Migraine	HP:0002076
114548	NLRP3	Lymphadenopathy	HP:0002716
114548	NLRP3	Erythema	HP:0010783
114548	NLRP3	Recurrent fever	HP:0001954
114548	NLRP3	Juvenile onset	HP:0003621
114548	NLRP3	Polydipsia	HP:0001959
114548	NLRP3	Cranial nerve paralysis	HP:0006824
114548	NLRP3	Uveitis	HP:0000554
114548	NLRP3	Restrictive ventilatory defect	HP:0002091
114548	NLRP3	Abnormal palate morphology	HP:0000174
114548	NLRP3	Retrobulbar optic neuritis	HP:0100654
114548	NLRP3	EEG abnormality	HP:0002353
114548	NLRP3	Leukocytosis	HP:0001974
114548	NLRP3	Abnormality of the skin	HP:0000951
114548	NLRP3	Episcleritis	HP:0100534
114548	NLRP3	Delayed puberty	HP:0000823
114548	NLRP3	Hepatomegaly	HP:0002240
114548	NLRP3	Delayed closure of the anterior fontanelle	HP:0001476
114548	NLRP3	Epiphora	HP:0009926
114548	NLRP3	Abnormality of the voice	HP:0001608
114548	NLRP3	Edema	HP:0000969
114548	NLRP3	Vasculitis	HP:0002633
114548	NLRP3	Hernia of the abdominal wall	HP:0004299
114548	NLRP3	Abnormality of the genital system	HP:0000078
114548	NLRP3	Opacification of the corneal stroma	HP:0007759
114548	NLRP3	Hyperhidrosis	HP:0000975
114548	NLRP3	Abnormal thrombocyte morphology	HP:0001872
114548	NLRP3	Splenomegaly	HP:0001744
114548	NLRP3	Abnormality of neutrophils	HP:0001874
114548	NLRP3	Purpura	HP:0000979
114548	NLRP3	Renal insufficiency	HP:0000083
114548	NLRP3	Increased intracranial pressure	HP:0002516
114548	NLRP3	Premature birth	HP:0001622
114548	NLRP3	Frontal bossing	HP:0002007
114548	NLRP3	Arthritis	HP:0001369
114548	NLRP3	Fatigue	HP:0012378
114548	NLRP3	Elevated C-reactive protein level	HP:0011227
114548	NLRP3	Skeletal dysplasia	HP:0002652
114548	NLRP3	Skin rash	HP:0000988
114548	NLRP3	Joint dislocation	HP:0001373
114548	NLRP3	Pruritus	HP:0000989
114548	NLRP3	Slow progression	HP:0003677
114548	NLRP3	Intellectual disability	HP:0001249
114548	NLRP3	Nausea and vomiting	HP:0002017
114548	NLRP3	Papule	HP:0200034
114548	NLRP3	Pes cavus	HP:0001761
114548	NLRP3	Short stature	HP:0004322
114548	NLRP3	Recurrent aphthous stomatitis	HP:0011107
114548	NLRP3	Nephrotic syndrome	HP:0000100
114548	NLRP3	Photophobia	HP:0000613
114548	NLRP3	Growth delay	HP:0001510
114548	NLRP3	Conjunctival hyperemia	HP:0030953
114548	NLRP3	Broad foot	HP:0001769
114548	NLRP3	Blindness	HP:0000618
114548	NLRP3	Keratitis	HP:0000491
114548	NLRP3	Abdominal pain	HP:0002027
114548	NLRP3	Elevated erythrocyte sedimentation rate	HP:0003565
114548	NLRP3	Hearing impairment	HP:0000365
114548	NLRP3	Blurred vision	HP:0000622
114548	NLRP3	Abnormality of the nose	HP:0000366
114548	NLRP3	Anemia	HP:0001903
114548	NLRP3	Global developmental delay	HP:0001263
114548	NLRP3	Nephropathy	HP:0000112
114548	NLRP3	Variable expressivity	HP:0003828
114548	NLRP3	Glaucoma	HP:0000501
114548	NLRP3	Dysesthesia	HP:0012534
114548	NLRP3	Reduced bone mineral density	HP:0004349
114548	NLRP3	Renal amyloidosis	HP:0001917
114548	NLRP3	Conjunctivitis	HP:0000509
114548	NLRP3	Myalgia	HP:0003326
57211	ADGRG6	Depressed nasal bridge	HP:0005280
57211	ADGRG6	Talipes equinovarus	HP:0001762
57211	ADGRG6	Ankylosis	HP:0031013
57211	ADGRG6	Triangular face	HP:0000325
57211	ADGRG6	Intrauterine growth retardation	HP:0001511
57211	ADGRG6	Autosomal recessive inheritance	HP:0000007
57211	ADGRG6	Abnormality of the diaphragm	HP:0000775
57211	ADGRG6	Pulmonary hypoplasia	HP:0002089
57211	ADGRG6	Short umbilical cord	HP:0001196
57211	ADGRG6	Anteverted nares	HP:0000463
57211	ADGRG6	Ulnar deviation of the hand	HP:0009487
57211	ADGRG6	Low-set ears	HP:0000369
57211	ADGRG6	Congenital contracture	HP:0002803
57211	ADGRG6	Decreased fetal movement	HP:0001558
57211	ADGRG6	Polyhydramnios	HP:0001561
57211	ADGRG6	Scoliosis	HP:0002650
57211	ADGRG6	Micrognathia	HP:0000347
57211	ADGRG6	Thin upper lip vermilion	HP:0000219
57211	ADGRG6	Hypertelorism	HP:0000316
57211	ADGRG6	Adducted thumb	HP:0001181
57211	ADGRG6	Myopathy	HP:0003198
81790	RNF170	Distal sensory impairment of all modalities	HP:0003409
81790	RNF170	Hyporeflexia	HP:0001265
81790	RNF170	Gait instability, worse in the dark	HP:0006962
81790	RNF170	Positive Romberg sign	HP:0002403
81790	RNF170	Areflexia	HP:0001284
81790	RNF170	Autosomal dominant inheritance	HP:0000006
81790	RNF170	Sensory ataxia	HP:0010871
81790	RNF170	Adult onset	HP:0003581
81790	RNF170	Babinski sign	HP:0003487
57216	VANGL2	Lipoma	HP:0012032
57216	VANGL2	Absence of the sacrum	HP:0010305
57216	VANGL2	Spina bifida occulta	HP:0003298
57216	VANGL2	Asymmetry of spinal facet joints	HP:0008482
57216	VANGL2	Anencephaly	HP:0002323
57216	VANGL2	Multiple lipomas	HP:0001012
57216	VANGL2	Urinary incontinence	HP:0000020
57216	VANGL2	Autosomal dominant inheritance	HP:0000006
57216	VANGL2	Myelomeningocele	HP:0002475
57216	VANGL2	Hydrocephalus	HP:0000238
57216	VANGL2	Primary adrenal insufficiency	HP:0008207
253827	MSRB3	Autosomal recessive inheritance	HP:0000007
253827	MSRB3	Hearing impairment	HP:0000365
57217	TTC7A	Duodenal stenosis	HP:0100867
57217	TTC7A	Omphalocele	HP:0001539
57217	TTC7A	Intestinal malrotation	HP:0002566
57217	TTC7A	Abdominal distention	HP:0003270
57217	TTC7A	Sparse hair	HP:0008070
57217	TTC7A	Autosomal recessive inheritance	HP:0000007
57217	TTC7A	Hypoplasia of the thymus	HP:0000778
57217	TTC7A	Hematochezia	HP:0002573
57217	TTC7A	Ectopic calcification	HP:0010766
57217	TTC7A	Severe combined immunodeficiency	HP:0004430
57217	TTC7A	Congenital cystic adenomatoid malformation of the lung	HP:0010959
57217	TTC7A	Hepatitis	HP:0012115
57217	TTC7A	Nail dystrophy	HP:0008404
57217	TTC7A	Abnormality of the ductus choledochus	HP:0100889
57217	TTC7A	Polyhydramnios	HP:0001561
57217	TTC7A	Intestinal atresia	HP:0011100
57217	TTC7A	Abnormality of the skeletal system	HP:0000924
57217	TTC7A	Interface hepatitis	HP:0032220
57217	TTC7A	Ventricular septal defect	HP:0001629
57217	TTC7A	Gastrointestinal atresia	HP:0002589
57217	TTC7A	Abnormality of abdomen morphology	HP:0001438
57217	TTC7A	Recurrent abscess formation	HP:0002722
57217	TTC7A	Autoimmune hemolytic anemia	HP:0001890
57217	TTC7A	Intrauterine growth retardation	HP:0001511
57217	TTC7A	Rectal abscess	HP:0005224
57217	TTC7A	Hashimoto thyroiditis	HP:0000872
57217	TTC7A	Type I diabetes mellitus	HP:0100651
57217	TTC7A	Jejunoileal ulceration	HP:0005229
57217	TTC7A	Absent eyebrow	HP:0002223
57217	TTC7A	Thickened skin	HP:0001072
57217	TTC7A	Peritoneal abscess	HP:0100592
57217	TTC7A	Alopecia of scalp	HP:0002293
57217	TTC7A	Psoriasiform dermatitis	HP:0003765
57217	TTC7A	Bloody diarrhea	HP:0025085
81794	ADAMTS10	Thin bony cortex	HP:0002753
81794	ADAMTS10	Brachydactyly	HP:0001156
81794	ADAMTS10	Cataract	HP:0000518
81794	ADAMTS10	Autosomal recessive inheritance	HP:0000007
81794	ADAMTS10	Hypoplasia of the maxilla	HP:0000327
81794	ADAMTS10	Shallow orbits	HP:0000586
81794	ADAMTS10	Broad metacarpals	HP:0001230
81794	ADAMTS10	Broad palm	HP:0001169
81794	ADAMTS10	Abnormality of dental morphology	HP:0006482
81794	ADAMTS10	Shallow anterior chamber	HP:0000594
81794	ADAMTS10	Spinal canal stenosis	HP:0003416
81794	ADAMTS10	Scoliosis	HP:0002650
81794	ADAMTS10	Ventricular septal defect	HP:0001629
81794	ADAMTS10	Depressed nasal bridge	HP:0005280
81794	ADAMTS10	Limitation of joint mobility	HP:0001376
81794	ADAMTS10	Short stature	HP:0004322
81794	ADAMTS10	Broad phalanges of the hand	HP:0009768
81794	ADAMTS10	Intellectual disability, mild	HP:0001256
81794	ADAMTS10	Blindness	HP:0000618
81794	ADAMTS10	Pulmonic stenosis	HP:0001642
81794	ADAMTS10	Joint stiffness	HP:0001387
81794	ADAMTS10	Patent ductus arteriosus	HP:0001643
81794	ADAMTS10	Thickened skin	HP:0001072
81794	ADAMTS10	Microspherophakia	HP:0030961
81794	ADAMTS10	Aortic valve stenosis	HP:0001650
81794	ADAMTS10	Short thumb	HP:0009778
81794	ADAMTS10	Misalignment of teeth	HP:0000692
81794	ADAMTS10	Proportionate short stature	HP:0003508
81794	ADAMTS10	Glaucoma	HP:0000501
81794	ADAMTS10	Broad ribs	HP:0000885
81794	ADAMTS10	Mitral regurgitation	HP:0001653
81794	ADAMTS10	Broad metatarsal	HP:0001783
81794	ADAMTS10	Brachycephaly	HP:0000248
81794	ADAMTS10	Lumbar hyperlordosis	HP:0002938
81794	ADAMTS10	Broad skull	HP:0002682
81794	ADAMTS10	High myopia	HP:0011003
81794	ADAMTS10	Ectopia lentis	HP:0001083
81794	ADAMTS10	Visual loss	HP:0000572
81794	ADAMTS10	Narrow palate	HP:0000189
57222	ERGIC1	Skeletal muscle atrophy	HP:0003202
57222	ERGIC1	Facial asymmetry	HP:0000324
57222	ERGIC1	Autosomal recessive inheritance	HP:0000007
57222	ERGIC1	Maternal diabetes	HP:0009800
57222	ERGIC1	Abnormality of the hip bone	HP:0003272
57222	ERGIC1	Camptodactyly of finger	HP:0100490
57222	ERGIC1	Hemiplegia/hemiparesis	HP:0004374
57222	ERGIC1	Abnormality of cardiovascular system morphology	HP:0030680
57222	ERGIC1	Abnormality of calvarial morphology	HP:0002648
57222	ERGIC1	Oligohydramnios	HP:0001562
57222	ERGIC1	Micrognathia	HP:0000347
57222	ERGIC1	Intestinal atresia	HP:0011100
57222	ERGIC1	Skin dimples	HP:0010781
57222	ERGIC1	Gastric ulcer	HP:0002592
57222	ERGIC1	Abnormality of the shoulder	HP:0003043
57222	ERGIC1	Congenital muscular torticollis	HP:0005988
57222	ERGIC1	Aplasia/Hypoplasia of the radius	HP:0006501
57222	ERGIC1	Micromelia	HP:0002983
57222	ERGIC1	Joint stiffness	HP:0001387
57222	ERGIC1	Abnormality of mesentery morphology	HP:0100016
57222	ERGIC1	Congenital contracture	HP:0002803
57222	ERGIC1	Arthrogryposis multiplex congenita	HP:0002804
57222	ERGIC1	Round face	HP:0000311
57222	ERGIC1	Hernia	HP:0100790
57222	ERGIC1	Congenital onset	HP:0003577
57222	ERGIC1	Short nose	HP:0003196
57222	ERGIC1	Myopathy	HP:0003198
57222	ERGIC1	Abnormality of the lower limb	HP:0002814
8074	FGF23	Short stature	HP:0004322
8074	FGF23	Congestive heart failure	HP:0001635
8074	FGF23	Abnormality of the dentition	HP:0000164
8074	FGF23	Hypophosphatemia	HP:0002148
8074	FGF23	Recurrent fractures	HP:0002757
8074	FGF23	Hyperphosphaturia	HP:0003109
8074	FGF23	Abnormal myocardium morphology	HP:0001637
8074	FGF23	Autosomal dominant inheritance	HP:0000006
8074	FGF23	Abnormality of the respiratory system	HP:0002086
8074	FGF23	Muscle weakness	HP:0001324
8074	FGF23	Hypophosphatemic rickets	HP:0004912
8074	FGF23	Elevated alkaline phosphatase	HP:0003155
8074	FGF23	Incomplete penetrance	HP:0003829
8074	FGF23	Renal phosphate wasting	HP:0000117
8074	FGF23	Spinal canal stenosis	HP:0003416
8074	FGF23	Fatigue	HP:0012378
8074	FGF23	Generalized muscle weakness	HP:0003324
8074	FGF23	Bone pain	HP:0002653
8074	FGF23	Osteomalacia	HP:0002749
8074	FGF23	Abnormality of the lower limb	HP:0002814
8076	MFAP5	Pectus carinatum	HP:0000768
8076	MFAP5	Carotid artery dilatation	HP:0012163
8076	MFAP5	Ascending aortic dissection	HP:0004933
8076	MFAP5	Cutis marmorata	HP:0000965
8076	MFAP5	Autosomal dominant inheritance	HP:0000006
8076	MFAP5	Chest pain	HP:0100749
8076	MFAP5	Coronary artery atherosclerosis	HP:0001677
8076	MFAP5	Abnormality iris morphology	HP:0000525
8076	MFAP5	Arachnodactyly	HP:0001166
8076	MFAP5	Dilatation of the cerebral artery	HP:0004944
8076	MFAP5	High, narrow palate	HP:0002705
8076	MFAP5	Mucoid extracellular matrix accumulation	HP:0200146
8076	MFAP5	Bruising susceptibility	HP:0000978
8076	MFAP5	Descending aortic dissection	HP:0012499
8076	MFAP5	Peripheral arterial stenosis	HP:0004950
8076	MFAP5	Transient ischemic attack	HP:0002326
8076	MFAP5	Retrognathia	HP:0000278
8076	MFAP5	Inguinal hernia	HP:0000023
8076	MFAP5	High palate	HP:0000218
8076	MFAP5	Subarachnoid hemorrhage	HP:0002138
8076	MFAP5	Scoliosis	HP:0002650
8076	MFAP5	Paroxysmal dyspnea	HP:0012763
8076	MFAP5	Ischemic stroke	HP:0002140
8076	MFAP5	Descending thoracic aorta aneurysm	HP:0004959
8076	MFAP5	Mitral valve prolapse	HP:0001634
8076	MFAP5	Hypovolemia	HP:0011106
8076	MFAP5	Tall stature	HP:0000098
8076	MFAP5	Pes planus	HP:0001763
8076	MFAP5	Dural ectasia	HP:0100775
8076	MFAP5	Cardiomegaly	HP:0001640
8076	MFAP5	Left ventricular dysfunction	HP:0005162
8076	MFAP5	Patent ductus arteriosus	HP:0001643
8076	MFAP5	Bicuspid aortic valve	HP:0001647
8076	MFAP5	Atrial fibrillation	HP:0005110
8076	MFAP5	Hypertension	HP:0000822
8076	MFAP5	Thoracic aortic aneurysm	HP:0012727
8076	MFAP5	Aortic root aneurysm	HP:0002616
8076	MFAP5	Abdominal aortic aneurysm	HP:0005112
8076	MFAP5	Hemoptysis	HP:0002105
8076	MFAP5	Pneumothorax	HP:0002107
8076	MFAP5	Exertional dyspnea	HP:0002875
8076	MFAP5	Aortic regurgitation	HP:0001659
8076	MFAP5	Hypertelorism	HP:0000316
8076	MFAP5	Prenatal maternal abnormality	HP:0002686
8076	MFAP5	Abnormality of the sternum	HP:0000766
8076	MFAP5	Pectus excavatum	HP:0000767
57231	SNX14	Absent speech	HP:0001344
57231	SNX14	Relative macrocephaly	HP:0004482
57231	SNX14	Clinodactyly	HP:0030084
57231	SNX14	Brachydactyly	HP:0001156
57231	SNX14	Autosomal recessive inheritance	HP:0000007
57231	SNX14	Cerebral cortical atrophy	HP:0002120
57231	SNX14	Infantile onset	HP:0003593
57231	SNX14	Short palpebral fissure	HP:0012745
57231	SNX14	Generalized hypotonia	HP:0001290
57231	SNX14	Wide nasal base	HP:0012810
57231	SNX14	Apraxia	HP:0002186
57231	SNX14	Anteverted nares	HP:0000463
57231	SNX14	Prominent forehead	HP:0011220
57231	SNX14	Long philtrum	HP:0000343
57231	SNX14	Sensorineural hearing impairment	HP:0000407
57231	SNX14	Coarse facial features	HP:0000280
57231	SNX14	Autistic behavior	HP:0000729
57231	SNX14	High palate	HP:0000218
57231	SNX14	Scoliosis	HP:0002650
57231	SNX14	Broad face	HP:0000283
57231	SNX14	Epicanthus	HP:0000286
57231	SNX14	Macroglossia	HP:0000158
57231	SNX14	Babinski sign	HP:0003487
57231	SNX14	Broad philtrum	HP:0000289
57231	SNX14	Camptodactyly	HP:0012385
57231	SNX14	Seizures	HP:0001250
57231	SNX14	Talipes equinovarus	HP:0001762
57231	SNX14	Ataxia	HP:0001251
57231	SNX14	Dental crowding	HP:0000678
57231	SNX14	Hypertrichosis	HP:0000998
57231	SNX14	Cerebellar hypoplasia	HP:0001321
57231	SNX14	Spasticity	HP:0001257
57231	SNX14	Delayed eruption of teeth	HP:0000684
57231	SNX14	Inability to walk	HP:0002540
57231	SNX14	Global developmental delay	HP:0001263
57231	SNX14	Hyporeflexia	HP:0001265
57231	SNX14	Thick vermilion border	HP:0012471
57231	SNX14	Cerebellar atrophy	HP:0001272
57231	SNX14	Nystagmus	HP:0000639
8085	KMT2D	Crossed fused renal ectopia	HP:0004736
8085	KMT2D	Preauricular skin tag	HP:0000384
8085	KMT2D	Autosomal dominant inheritance	HP:0000006
8085	KMT2D	Intestinal malrotation	HP:0002566
8085	KMT2D	Abnormal cardiac septum morphology	HP:0001671
8085	KMT2D	Congenital diaphragmatic hernia	HP:0000776
8085	KMT2D	Generalized hypotonia	HP:0001290
8085	KMT2D	Hip dislocation	HP:0002827
8085	KMT2D	Abnormal vertebral morphology	HP:0003468
8085	KMT2D	Long eyelashes	HP:0000527
8085	KMT2D	Coarctation of aorta	HP:0001680
8085	KMT2D	Macrotia	HP:0000400
8085	KMT2D	Recurrent otitis media	HP:0000403
8085	KMT2D	Short 5th finger	HP:0009237
8085	KMT2D	Conductive hearing impairment	HP:0000405
8085	KMT2D	Sparse and thin eyebrow	HP:0000535
8085	KMT2D	Sensorineural hearing impairment	HP:0000407
8085	KMT2D	Protruding ear	HP:0000411
8085	KMT2D	Cryptorchidism	HP:0000028
8085	KMT2D	Hypodontia	HP:0000668
8085	KMT2D	Recurrent infections	HP:0002719
8085	KMT2D	Hypoplasia of penis	HP:0008736
8085	KMT2D	Abnormality of the dentition	HP:0000164
8085	KMT2D	Feeding difficulties in infancy	HP:0008872
8085	KMT2D	Mask-like facies	HP:0000298
8085	KMT2D	Lip pit	HP:0100267
8085	KMT2D	Wide nasal bridge	HP:0000431
8085	KMT2D	Cleft palate	HP:0000175
8085	KMT2D	Hypospadias	HP:0000047
8085	KMT2D	Widely spaced teeth	HP:0000687
8085	KMT2D	EEG abnormality	HP:0002353
8085	KMT2D	Microdontia	HP:0000691
8085	KMT2D	Recurrent aspiration pneumonia	HP:0002100
8085	KMT2D	Depressed nasal tip	HP:0000437
8085	KMT2D	Autoimmune thrombocytopenia	HP:0001973
8085	KMT2D	Abnormal dermatoglyphics	HP:0007477
8085	KMT2D	Micropenis	HP:0000054
8085	KMT2D	Precocious puberty	HP:0000826
8085	KMT2D	Short middle phalanx of finger	HP:0005819
8085	KMT2D	Prominent fingertip pads	HP:0001212
8085	KMT2D	Joint hyperflexibility	HP:0005692
8085	KMT2D	Cafe-au-lait spot	HP:0000957
8085	KMT2D	Feeding difficulties	HP:0011968
8085	KMT2D	Postnatal growth retardation	HP:0008897
8085	KMT2D	Ventriculomegaly	HP:0002119
8085	KMT2D	Cerebral cortical atrophy	HP:0002120
8085	KMT2D	Ureteropelvic junction obstruction	HP:0000074
8085	KMT2D	Premature thelarche	HP:0010314
8085	KMT2D	Coloboma	HP:0000589
8085	KMT2D	Blue sclerae	HP:0000592
8085	KMT2D	Short columella	HP:0002000
8085	KMT2D	Duplicated collecting system	HP:0000081
8085	KMT2D	Congenital hypothyroidism	HP:0000851
8085	KMT2D	Hemolytic anemia	HP:0001878
8085	KMT2D	High palate	HP:0000218
8085	KMT2D	Scoliosis	HP:0002650
8085	KMT2D	Sparse lateral eyebrow	HP:0005338
8085	KMT2D	Ventricular septal defect	HP:0001629
8085	KMT2D	Congenital hip dislocation	HP:0001374
8085	KMT2D	Prominent eyelashes	HP:0011231
8085	KMT2D	Atrial septal defect	HP:0001631
8085	KMT2D	Intellectual disability	HP:0001249
8085	KMT2D	Anoperineal fistula	HP:0005218
8085	KMT2D	Short stature	HP:0004322
8085	KMT2D	Seizures	HP:0001250
8085	KMT2D	Microcornea	HP:0000482
8085	KMT2D	Muscular hypotonia	HP:0001252
8085	KMT2D	Failure to thrive	HP:0001508
8085	KMT2D	Strabismus	HP:0000486
8085	KMT2D	Joint hypermobility	HP:0001382
8085	KMT2D	Posteriorly rotated ears	HP:0000358
8085	KMT2D	Renal hypoplasia/aplasia	HP:0008678
8085	KMT2D	Eversion of lateral third of lower eyelids	HP:0007655
8085	KMT2D	Anal atresia	HP:0002023
8085	KMT2D	Malabsorption	HP:0002024
8085	KMT2D	Anal stenosis	HP:0002025
8085	KMT2D	Obesity	HP:0001513
8085	KMT2D	Hearing impairment	HP:0000365
8085	KMT2D	Hydrocephalus	HP:0000238
8085	KMT2D	Global developmental delay	HP:0001263
8085	KMT2D	Hirsutism	HP:0001007
8085	KMT2D	Preauricular pit	HP:0004467
8085	KMT2D	Butterfly vertebrae	HP:0003316
8085	KMT2D	Small hand	HP:0200055
8085	KMT2D	Highly arched eyebrow	HP:0002553
8085	KMT2D	Hemivertebrae	HP:0002937
8085	KMT2D	Ptosis	HP:0000508
8085	KMT2D	Microcephaly	HP:0000252
8085	KMT2D	Long palpebral fissure	HP:0000637
8085	KMT2D	Hydronephrosis	HP:0000126
8085	KMT2D	Nystagmus	HP:0000639
8086	AAAS	Hyperreflexia	HP:0001347
8086	AAAS	Adrenocorticotropin receptor defect	HP:0008259
8086	AAAS	Plantar hyperkeratosis	HP:0007556
8086	AAAS	Autosomal recessive inheritance	HP:0000007
8086	AAAS	Childhood onset	HP:0011463
8086	AAAS	Optic atrophy	HP:0000648
8086	AAAS	Developmental regression	HP:0002376
8086	AAAS	Abnormality of visual evoked potentials	HP:0000649
8086	AAAS	Alacrima	HP:0000522
8086	AAAS	Achalasia	HP:0002571
8086	AAAS	Palmoplantar hyperkeratosis	HP:0000972
8086	AAAS	Adrenal insufficiency	HP:0000846
8086	AAAS	Generalized hyperpigmentation	HP:0007440
8086	AAAS	Palmoplantar keratoderma	HP:0000982
8086	AAAS	Abnormality of the calf musculature	HP:0001430
8086	AAAS	Sensorineural hearing impairment	HP:0000407
8086	AAAS	Motor axonal neuropathy	HP:0007002
8086	AAAS	Progressive	HP:0003676
8086	AAAS	Babinski sign	HP:0003487
8086	AAAS	Decreased circulating aldosterone level	HP:0004319
8086	AAAS	Intellectual disability	HP:0001249
8086	AAAS	Pes cavus	HP:0001761
8086	AAAS	Short stature	HP:0004322
8086	AAAS	Seizures	HP:0001250
8086	AAAS	Ataxia	HP:0001251
8086	AAAS	Decreased circulating cortisol level	HP:0008163
8086	AAAS	Muscular hypotonia	HP:0001252
8086	AAAS	Iris coloboma	HP:0000612
8086	AAAS	Abnormal autonomic nervous system physiology	HP:0012332
8086	AAAS	Muscle weakness	HP:0001324
8086	AAAS	Dysarthria	HP:0001260
8086	AAAS	Respiratory insufficiency	HP:0002093
8086	AAAS	Global developmental delay	HP:0001263
8086	AAAS	Abnormality of the hypothenar eminence	HP:0010486
8086	AAAS	Hyperpigmentation of the skin	HP:0000953
8086	AAAS	Visual impairment	HP:0000505
8086	AAAS	Microcephaly	HP:0000252
8086	AAAS	Anisocoria	HP:0009916
8086	AAAS	Orthostatic hypotension	HP:0001278
8086	AAAS	Anterior hypopituitarism	HP:0000830
8091	HMGA2	Skeletal muscle atrophy	HP:0003202
8091	HMGA2	Uterine leiomyoma	HP:0000131
8091	HMGA2	Syringomyelia	HP:0003396
8091	HMGA2	Arnold-Chiari malformation	HP:0002308
8091	HMGA2	Triangular face	HP:0000325
8091	HMGA2	Intestinal malrotation	HP:0002566
8091	HMGA2	Autosomal dominant inheritance	HP:0000006
8091	HMGA2	Subcutaneous nodule	HP:0001482
8091	HMGA2	Abnormality of the spleen	HP:0001743
8091	HMGA2	Gastrointestinal dysmotility	HP:0002579
8091	HMGA2	Somatic mutation	HP:0001428
8091	HMGA2	Horseshoe kidney	HP:0000085
8091	HMGA2	Ectopic kidney	HP:0000086
8091	HMGA2	Frontal bossing	HP:0002007
8091	HMGA2	Synophrys	HP:0000664
8091	HMGA2	Renal hypoplasia	HP:0000089
8091	HMGA2	Downturned corners of mouth	HP:0002714
8091	HMGA2	Scoliosis	HP:0002650
8091	HMGA2	Micrognathia	HP:0000347
8091	HMGA2	Hypodontia	HP:0000668
8091	HMGA2	Short stature	HP:0004322
8091	HMGA2	Failure to thrive	HP:0001508
8091	HMGA2	Muscular hypotonia	HP:0001252
8091	HMGA2	Intrauterine growth retardation	HP:0001511
8091	HMGA2	Intellectual disability, mild	HP:0001256
8091	HMGA2	Abnormality of the nares	HP:0005288
8091	HMGA2	Thin vermilion border	HP:0000233
8091	HMGA2	Prominent nasal bridge	HP:0000426
8091	HMGA2	Deeply set eye	HP:0000490
8091	HMGA2	Delayed speech and language development	HP:0000750
8091	HMGA2	Global developmental delay	HP:0001263
8091	HMGA2	Specific learning disability	HP:0001328
8091	HMGA2	Clinodactyly of the 5th finger	HP:0004209
8091	HMGA2	Osteopoikilosis	HP:0010739
8091	HMGA2	Diabetes mellitus	HP:0000819
8091	HMGA2	Abnormal renal physiology	HP:0012211
8091	HMGA2	Hyperpigmentation of the skin	HP:0000953
8091	HMGA2	Tremor	HP:0001337
8091	HMGA2	Hypertelorism	HP:0000316
8091	HMGA2	Microcephaly	HP:0000252
8091	HMGA2	Wide nose	HP:0000445
8091	HMGA2	Thick eyebrow	HP:0000574
8092	ALX1	Preauricular skin tag	HP:0000384
8092	ALX1	Brachydactyly	HP:0001156
8092	ALX1	Cataract	HP:0000518
8092	ALX1	Autosomal recessive inheritance	HP:0000007
8092	ALX1	Cranium bifidum occultum	HP:0004423
8092	ALX1	Hypoplasia of the maxilla	HP:0000327
8092	ALX1	Prominent glabella	HP:0002057
8092	ALX1	Pectoral muscle hypoplasia/aplasia	HP:0005258
8092	ALX1	Camptodactyly of finger	HP:0100490
8092	ALX1	Sparse eyelashes	HP:0000653
8092	ALX1	Lipoma of corpus callosum	HP:0006931
8092	ALX1	Sparse eyebrow	HP:0045075
8092	ALX1	Finger clinodactyly	HP:0040019
8092	ALX1	Conductive hearing impairment	HP:0000405
8092	ALX1	Facial cleft	HP:0002006
8092	ALX1	Hypoplasia of the frontal bone	HP:0005466
8092	ALX1	Bifid nose	HP:0011803
8092	ALX1	Widow's peak	HP:0000349
8092	ALX1	Epicanthus	HP:0000286
8092	ALX1	Aplasia/Hypoplasia of the frontal sinuses	HP:0009119
8092	ALX1	Intellectual disability	HP:0001249
8092	ALX1	Tetralogy of Fallot	HP:0001636
8092	ALX1	Underdeveloped nasal alae	HP:0000430
8092	ALX1	Cleft palate	HP:0000175
8092	ALX1	Wide nasal bridge	HP:0000431
8092	ALX1	Absent eyebrow	HP:0002223
8092	ALX1	Low-set, posteriorly rotated ears	HP:0000368
8092	ALX1	Eyelid coloboma	HP:0000625
8092	ALX1	Brachycephaly	HP:0000248
8092	ALX1	Microphthalmia	HP:0000568
8092	ALX1	Agenesis of corpus callosum	HP:0001274
8092	ALX1	Upper eyelid coloboma	HP:0000636
8092	ALX1	Hypertelorism	HP:0000316
8092	ALX1	Ptosis	HP:0000508
8100	IFT88	Abnormal electroretinogram	HP:0000512
8100	IFT88	Hyperreflexia	HP:0001347
8100	IFT88	Cataract	HP:0000518
8100	IFT88	Hypogonadism	HP:0000135
8100	IFT88	Optic atrophy	HP:0000648
8100	IFT88	Hyperinsulinemia	HP:0000842
8100	IFT88	Anteverted nares	HP:0000463
8100	IFT88	Conductive hearing impairment	HP:0000405
8100	IFT88	Sensorineural hearing impairment	HP:0000407
8100	IFT88	Abnormality of retinal pigmentation	HP:0007703
8100	IFT88	Ophthalmoplegia	HP:0000602
8100	IFT88	Type II diabetes mellitus	HP:0005978
8100	IFT88	Atypical scarring of skin	HP:0000987
8100	IFT88	Hypoplasia of penis	HP:0008736
8100	IFT88	Intellectual disability	HP:0001249
8100	IFT88	Abnormal testis morphology	HP:0000035
8100	IFT88	Photophobia	HP:0000613
8100	IFT88	Obesity	HP:0001513
8100	IFT88	Blindness	HP:0000618
8100	IFT88	Abnormal retinal vascular morphology	HP:0008046
8100	IFT88	Wide nasal bridge	HP:0000431
8100	IFT88	Keratoconus	HP:0000563
8100	IFT88	Glaucoma	HP:0000501
8100	IFT88	Progressive night blindness	HP:0007675
8100	IFT88	Nystagmus	HP:0000639
8106	PABPN1	Ragged-red muscle fibers	HP:0003200
8106	PABPN1	Facial palsy	HP:0010628
8106	PABPN1	Elevated serum creatine kinase	HP:0003236
8106	PABPN1	Autosomal dominant inheritance	HP:0000006
8106	PABPN1	Spondylolisthesis	HP:0003302
8106	PABPN1	Gait disturbance	HP:0001288
8106	PABPN1	Mask-like facies	HP:0000298
8106	PABPN1	Limb muscle weakness	HP:0003690
8106	PABPN1	Dysarthria	HP:0001260
8106	PABPN1	Neck muscle weakness	HP:0000467
8106	PABPN1	Proximal muscle weakness	HP:0003701
8106	PABPN1	Abnormality of the pharynx	HP:0000600
8106	PABPN1	Ophthalmoplegia	HP:0000602
8106	PABPN1	Progressive	HP:0003676
8106	PABPN1	Distal muscle weakness	HP:0002460
8106	PABPN1	Ptosis	HP:0000508
8106	PABPN1	Adult onset	HP:0003581
8106	PABPN1	Rimmed vacuoles	HP:0003805
8106	PABPN1	Progressive ptosis	HP:0007838
8106	PABPN1	Myopathy	HP:0003198
8106	PABPN1	Dysphagia	HP:0002015
196527	ANO6	Factor X activation deficiency	HP:0008354
196527	ANO6	Abnormal bleeding	HP:0001892
196527	ANO6	Autosomal recessive inheritance	HP:0000007
147372	CCBE1	Hypoalbuminemia	HP:0003073
147372	CCBE1	Umbilical hernia	HP:0001537
147372	CCBE1	Joint contracture of the hand	HP:0009473
147372	CCBE1	Pleural lymphangiectasia	HP:0006531
147372	CCBE1	Ascites	HP:0001541
147372	CCBE1	Narrow chest	HP:0000774
147372	CCBE1	Autosomal recessive inheritance	HP:0000007
147372	CCBE1	Camptodactyly of finger	HP:0100490
147372	CCBE1	Malar flattening	HP:0000272
147372	CCBE1	Conductive hearing impairment	HP:0000405
147372	CCBE1	Pachygyria	HP:0001302
147372	CCBE1	Retrognathia	HP:0000278
147372	CCBE1	Sensorineural hearing impairment	HP:0000407
147372	CCBE1	Pleural effusion	HP:0002202
147372	CCBE1	Cryptorchidism	HP:0000028
147372	CCBE1	Lymphadenopathy	HP:0002716
147372	CCBE1	Lymphangioma	HP:0100764
147372	CCBE1	Recurrent respiratory infections	HP:0002205
147372	CCBE1	Epicanthus	HP:0000286
147372	CCBE1	Erysipelas	HP:0001055
147372	CCBE1	Depressed nasal bridge	HP:0005280
147372	CCBE1	Narrow mouth	HP:0000160
147372	CCBE1	Intestinal lymphangiectasia	HP:0002593
147372	CCBE1	Pericardial effusion	HP:0001698
147372	CCBE1	Oligodontia	HP:0000677
147372	CCBE1	Thyroid lymphangiectasia	HP:0008229
147372	CCBE1	Sparse axillary hair	HP:0002215
147372	CCBE1	Delayed eruption of teeth	HP:0000684
147372	CCBE1	Respiratory insufficiency	HP:0002093
147372	CCBE1	Bilateral single transverse palmar creases	HP:0007598
147372	CCBE1	Wide nasal bridge	HP:0000431
147372	CCBE1	Hypoplastic iliac wing	HP:0002866
147372	CCBE1	Short palm	HP:0004279
147372	CCBE1	Conical incisor	HP:0011065
147372	CCBE1	Cutaneous finger syndactyly	HP:0010554
147372	CCBE1	Periorbital edema	HP:0100539
147372	CCBE1	Arteriovenous malformation	HP:0100026
147372	CCBE1	Hypertelorism	HP:0000316
147372	CCBE1	Narrow palate	HP:0000189
147372	CCBE1	Increased number of teeth	HP:0011069
147372	CCBE1	Delayed skeletal maturation	HP:0002750
147372	CCBE1	Smooth philtrum	HP:0000319
147372	CCBE1	Pericardial lymphangiectasia	HP:0005183
147372	CCBE1	Short philtrum	HP:0000322
147372	CCBE1	Protein-losing enteropathy	HP:0002243
147372	CCBE1	Chylothorax	HP:0010310
147372	CCBE1	Vesicoureteral reflux	HP:0000076
147372	CCBE1	Reduced number of teeth	HP:0009804
147372	CCBE1	Flat face	HP:0012368
147372	CCBE1	Splenomegaly	HP:0001744
147372	CCBE1	Broad forehead	HP:0000337
147372	CCBE1	Abnormality of dental morphology	HP:0006482
147372	CCBE1	Craniosynostosis	HP:0001363
147372	CCBE1	Gingival overgrowth	HP:0000212
147372	CCBE1	Horseshoe kidney	HP:0000085
147372	CCBE1	Hypocalcemia	HP:0002901
147372	CCBE1	Finger syndactyly	HP:0006101
147372	CCBE1	Ectopic kidney	HP:0000086
147372	CCBE1	Coronal craniosynostosis	HP:0004440
147372	CCBE1	Decreased antibody level in blood	HP:0004313
147372	CCBE1	Scoliosis	HP:0002650
147372	CCBE1	Ventricular septal defect	HP:0001629
147372	CCBE1	Atrial septal defect	HP:0001631
147372	CCBE1	Abnormality of the foot	HP:0001760
147372	CCBE1	Lymphopenia	HP:0001888
147372	CCBE1	Intellectual disability	HP:0001249
147372	CCBE1	Camptodactyly	HP:0012385
147372	CCBE1	Talipes equinovarus	HP:0001762
147372	CCBE1	Seizures	HP:0001250
147372	CCBE1	Spina bifida occulta	HP:0003298
147372	CCBE1	Benign neoplasm of the central nervous system	HP:0100835
147372	CCBE1	Pyloric stenosis	HP:0002021
147372	CCBE1	Malabsorption	HP:0002024
147372	CCBE1	Lymphedema	HP:0001004
147372	CCBE1	Short foot	HP:0001773
147372	CCBE1	Hirsutism	HP:0001007
147372	CCBE1	Hyperactivity	HP:0000752
147372	CCBE1	Low-set ears	HP:0000369
147372	CCBE1	Rectal prolapse	HP:0002035
147372	CCBE1	Small hand	HP:0200055
147372	CCBE1	Glaucoma	HP:0000501
147372	CCBE1	Pulmonary lymphangiectasia	HP:0006521
147372	CCBE1	Mild postnatal growth retardation	HP:0001530
147372	CCBE1	External ear malformation	HP:0008572
147372	CCBE1	Hydrops fetalis	HP:0001789
147372	CCBE1	Hydronephrosis	HP:0000126
147372	CCBE1	Pectus excavatum	HP:0000767
81839	VANGL1	Absence of the sacrum	HP:0010305
81839	VANGL1	Sacral lipoma	HP:0012033
81839	VANGL1	Meningocele	HP:0002435
81839	VANGL1	Arnold-Chiari malformation	HP:0002308
81839	VANGL1	Aplasia/Hypoplasia of the sacrum	HP:0008517
81839	VANGL1	Autosomal dominant inheritance	HP:0000006
81839	VANGL1	Meningitis	HP:0001287
81839	VANGL1	Maternal diabetes	HP:0009800
81839	VANGL1	Abnormal vertebral segmentation and fusion	HP:0005640
81839	VANGL1	Ureteral duplication	HP:0000073
81839	VANGL1	Oral cleft	HP:0000202
81839	VANGL1	Neurogenic bladder	HP:0000011
81839	VANGL1	Headache	HP:0002315
81839	VANGL1	Vesicoureteral reflux	HP:0000076
81839	VANGL1	Urinary retention	HP:0000016
81839	VANGL1	Renal insufficiency	HP:0000083
81839	VANGL1	Ectopic kidney	HP:0000086
81839	VANGL1	Abnormality of cardiovascular system morphology	HP:0030680
81839	VANGL1	Missing ribs	HP:0000921
81839	VANGL1	Back pain	HP:0003418
81839	VANGL1	Scoliosis	HP:0002650
81839	VANGL1	Abnormality of the wing of the ilium	HP:0011867
81839	VANGL1	Arrhinencephaly	HP:0002139
81839	VANGL1	Cryptorchidism	HP:0000028
81839	VANGL1	Dermoid cyst	HP:0025247
81839	VANGL1	Hypoplastic vertebral bodies	HP:0008479
81839	VANGL1	Talipes equinovarus	HP:0001762
81839	VANGL1	Constipation	HP:0002019
81839	VANGL1	Reduced tendon reflexes	HP:0001315
81839	VANGL1	Impulsivity	HP:0100710
81839	VANGL1	Anal atresia	HP:0002023
81839	VANGL1	Rectal abscess	HP:0005224
81839	VANGL1	Renal agenesis	HP:0000104
81839	VANGL1	Pulmonary hypoplasia	HP:0002089
81839	VANGL1	Joint stiffness	HP:0001387
81839	VANGL1	Bowel incontinence	HP:0002607
81839	VANGL1	Hypertension	HP:0000822
81839	VANGL1	Anterior sacral meningocele	HP:0007293
81839	VANGL1	Hemisacrum	HP:0009790
81839	VANGL1	Ambiguous genitalia	HP:0000062
81839	VANGL1	Decreased muscle mass	HP:0003199
8111	GPR68	Autosomal recessive inheritance	HP:0000007
8111	GPR68	Anterior open bite	HP:0200095
196528	ARID2	Clinodactyly	HP:0030084
196528	ARID2	Brachydactyly	HP:0001156
196528	ARID2	Cataract	HP:0000518
196528	ARID2	Autosomal dominant inheritance	HP:0000006
196528	ARID2	Congenital diaphragmatic hernia	HP:0000776
196528	ARID2	Generalized hypotonia	HP:0001290
196528	ARID2	Long eyelashes	HP:0000527
196528	ARID2	High, narrow palate	HP:0002705
196528	ARID2	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	HP:0100371
196528	ARID2	Conductive hearing impairment	HP:0000405
196528	ARID2	Retrognathia	HP:0000278
196528	ARID2	Diaphragmatic eventration	HP:0009110
196528	ARID2	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	HP:0009239
196528	ARID2	Coarse facial features	HP:0000280
196528	ARID2	Dandy-Walker malformation	HP:0001305
196528	ARID2	Short distal phalanx of finger	HP:0009882
196528	ARID2	Wide mouth	HP:0000154
196528	ARID2	Cryptorchidism	HP:0000028
196528	ARID2	Recurrent respiratory infections	HP:0002205
196528	ARID2	Epicanthus	HP:0000286
196528	ARID2	Hypoplasia of the corpus callosum	HP:0002079
196528	ARID2	Depressed nasal bridge	HP:0005280
196528	ARID2	Hypoplastic fifth toenail	HP:0011937
196528	ARID2	Abnormality of the dentition	HP:0000164
196528	ARID2	Feeding difficulties in infancy	HP:0008872
196528	ARID2	Slow-growing hair	HP:0002217
196528	ARID2	Bilateral single transverse palmar creases	HP:0007598
196528	ARID2	Wide nasal bridge	HP:0000431
196528	ARID2	Cleft palate	HP:0000175
196528	ARID2	Thick lower lip vermilion	HP:0000179
196528	ARID2	Generalized hirsutism	HP:0002230
196528	ARID2	Partial agenesis of the corpus callosum	HP:0001338
196528	ARID2	Periventricular leukomalacia	HP:0006970
196528	ARID2	Joint hyperflexibility	HP:0005692
196528	ARID2	Thick eyebrow	HP:0000574
196528	ARID2	Kyphoscoliosis	HP:0002751
196528	ARID2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
196528	ARID2	Tics	HP:0100033
196528	ARID2	Short philtrum	HP:0000322
196528	ARID2	Cutis marmorata	HP:0000965
196528	ARID2	Broad nasal tip	HP:0000455
196528	ARID2	Abnormality of the hip bone	HP:0003272
196528	ARID2	Depressed nasal ridge	HP:0000457
196528	ARID2	Plagiocephaly	HP:0001357
196528	ARID2	Hypoplastic fifth fingernail	HP:0008398
196528	ARID2	Abnormal facial shape	HP:0001999
196528	ARID2	Deep philtrum	HP:0002002
196528	ARID2	Large forehead	HP:0002003
196528	ARID2	Wormian bones	HP:0002645
196528	ARID2	Ectopic kidney	HP:0000086
196528	ARID2	Frontal bossing	HP:0002007
196528	ARID2	Abnormality of cardiovascular system morphology	HP:0030680
196528	ARID2	Scoliosis	HP:0002650
196528	ARID2	Micrognathia	HP:0000347
196528	ARID2	High forehead	HP:0000348
196528	ARID2	Stereotypy	HP:0000733
196528	ARID2	Arachnoid cyst	HP:0100702
196528	ARID2	Atrial septal defect	HP:0001631
196528	ARID2	Intellectual disability	HP:0001249
196528	ARID2	Narrow palpebral fissure	HP:0045025
196528	ARID2	Short stature	HP:0004322
196528	ARID2	Spina bifida occulta	HP:0003298
196528	ARID2	Seizures	HP:0001250
196528	ARID2	Elbow dislocation	HP:0003042
196528	ARID2	Aplasia/Hypoplasia of the patella	HP:0006498
196528	ARID2	Anxiety	HP:0000739
196528	ARID2	Constipation	HP:0002019
196528	ARID2	Muscular hypotonia	HP:0001252
196528	ARID2	Gastroesophageal reflux	HP:0002020
196528	ARID2	Renal hypoplasia/aplasia	HP:0008678
196528	ARID2	Strabismus	HP:0000486
196528	ARID2	Intrauterine growth retardation	HP:0001511
196528	ARID2	Attention deficit hyperactivity disorder	HP:0007018
196528	ARID2	Hearing impairment	HP:0000365
196528	ARID2	Downslanted palpebral fissures	HP:0000494
196528	ARID2	Delayed speech and language development	HP:0000750
196528	ARID2	Global developmental delay	HP:0001263
196528	ARID2	Low-set, posteriorly rotated ears	HP:0000368
196528	ARID2	Coxa valga	HP:0002673
196528	ARID2	Abnormality of the intervertebral disk	HP:0005108
196528	ARID2	Motor delay	HP:0001270
196528	ARID2	Kyphosis	HP:0002808
196528	ARID2	Lacrimation abnormality	HP:0000632
196528	ARID2	Abnormality of the clavicle	HP:0000889
196528	ARID2	Microcephaly	HP:0000252
196528	ARID2	Ptosis	HP:0000508
196528	ARID2	Hydronephrosis	HP:0000126
196528	ARID2	Nystagmus	HP:0000639
196528	ARID2	Pectus excavatum	HP:0000767
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	Juvenile onset	HP:0003621
81846	SBF2	Hammertoe	HP:0001765
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	Heterogeneous	HP:0001425
81846	SBF2	Hyporeflexia	HP:0001265
81846	SBF2	Difficulty walking	HP:0002355
81846	SBF2	Split hand	HP:0001171
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
8120	AP3B2	Feeding difficulties	HP:0011968
8120	AP3B2	Absent speech	HP:0001344
8120	AP3B2	Epileptic encephalopathy	HP:0200134
8120	AP3B2	Autosomal recessive inheritance	HP:0000007
8120	AP3B2	Optic atrophy	HP:0000648
8120	AP3B2	Developmental regression	HP:0002376
8120	AP3B2	Generalized hypotonia	HP:0001290
8120	AP3B2	Cerebral atrophy	HP:0002059
8120	AP3B2	Limb hypertonia	HP:0002509
8120	AP3B2	Autism	HP:0000717
8120	AP3B2	Unsteady gait	HP:0002317
8120	AP3B2	Rigidity	HP:0002063
8120	AP3B2	Encephalopathy	HP:0001298
8120	AP3B2	Status epilepticus	HP:0002133
8120	AP3B2	Decreased fetal movement	HP:0001558
8120	AP3B2	Hypsarrhythmia	HP:0002521
8120	AP3B2	High forehead	HP:0000348
8120	AP3B2	EEG with multifocal slow activity	HP:0010844
8120	AP3B2	Hypodontia	HP:0000668
8120	AP3B2	Abnormal myelination	HP:0012447
8120	AP3B2	Hypoplasia of the corpus callosum	HP:0002079
8120	AP3B2	Intellectual disability	HP:0001249
8120	AP3B2	Short stature	HP:0004322
8120	AP3B2	Retinal degeneration	HP:0000546
8120	AP3B2	Ataxia	HP:0001251
8120	AP3B2	Gastroesophageal reflux	HP:0002020
8120	AP3B2	Failure to thrive	HP:0001508
8120	AP3B2	Impulsivity	HP:0100710
8120	AP3B2	Spasticity	HP:0001257
8120	AP3B2	Attention deficit hyperactivity disorder	HP:0007018
8120	AP3B2	Downslanted palpebral fissures	HP:0000494
8120	AP3B2	Delayed speech and language development	HP:0000750
8120	AP3B2	Global developmental delay	HP:0001263
8120	AP3B2	Hyporeflexia	HP:0001265
8120	AP3B2	Poor eye contact	HP:0000817
8120	AP3B2	Difficulty walking	HP:0002355
8120	AP3B2	Mental deterioration	HP:0001268
8120	AP3B2	Poor head control	HP:0002421
8120	AP3B2	Dyskinesia	HP:0100660
8120	AP3B2	Myoclonus	HP:0001336
8120	AP3B2	Abnormality of vision	HP:0000504
8120	AP3B2	Cerebellar atrophy	HP:0001272
8120	AP3B2	Tremor	HP:0001337
8120	AP3B2	Abnormal corpus callosum morphology	HP:0001273
8120	AP3B2	Microcephaly	HP:0000252
8120	AP3B2	Ptosis	HP:0000508
8120	AP3B2	Rod-cone dystrophy	HP:0000510
8120	AP3B2	Nystagmus	HP:0000639
81848	SPRY4	Ichthyosis	HP:0008064
81848	SPRY4	Abnormality of body height	HP:0000002
81848	SPRY4	Gynecomastia	HP:0000771
81848	SPRY4	Absence of pubertal development	HP:0008197
81848	SPRY4	Autosomal dominant inheritance	HP:0000006
81848	SPRY4	Female hypogonadism	HP:0000134
81848	SPRY4	Autosomal recessive inheritance	HP:0000007
81848	SPRY4	Gait disturbance	HP:0001288
81848	SPRY4	Hypoplasia of the uterus	HP:0000013
81848	SPRY4	Decreased fertility	HP:0000144
81848	SPRY4	Primary amenorrhea	HP:0000786
81848	SPRY4	Hypoplasia of the ovary	HP:0008724
81848	SPRY4	Infertility	HP:0000789
81848	SPRY4	Sensorineural hearing impairment	HP:0000407
81848	SPRY4	Male hypogonadism	HP:0000026
81848	SPRY4	Cryptorchidism	HP:0000028
81848	SPRY4	Decreased testicular size	HP:0008734
81848	SPRY4	Erectile abnormalities	HP:0100639
81848	SPRY4	Depressed nasal bridge	HP:0005280
81848	SPRY4	Impotence	HP:0000802
81848	SPRY4	Abnormality of the dentition	HP:0000164
81848	SPRY4	Sparse axillary hair	HP:0002215
81848	SPRY4	Color vision defect	HP:0000551
81848	SPRY4	Osteopenia	HP:0000938
81848	SPRY4	Osteoporosis	HP:0000939
81848	SPRY4	Hypogonadotrophic hypogonadism	HP:0000044
81848	SPRY4	Muscle weakness	HP:0001324
81848	SPRY4	Cleft palate	HP:0000175
81848	SPRY4	Sparse pubic hair	HP:0002225
81848	SPRY4	Micropenis	HP:0000054
81848	SPRY4	Paraplegia	HP:0010550
81848	SPRY4	Delayed puberty	HP:0000823
81848	SPRY4	Bimanual synkinesia	HP:0001335
81848	SPRY4	Sparse body hair	HP:0002231
81848	SPRY4	Tremor	HP:0001337
81848	SPRY4	Hyposmia	HP:0004409
81848	SPRY4	Non-obstructive azoospermia	HP:0011961
81848	SPRY4	Hypertelorism	HP:0000316
81848	SPRY4	Delayed skeletal maturation	HP:0002750
81848	SPRY4	Anterior hypopituitarism	HP:0000830
81848	SPRY4	Dyspareunia	HP:0030016
81848	SPRY4	Increased female libido	HP:0030019
81848	SPRY4	Recurrent fractures	HP:0002757
81848	SPRY4	Eunuchoid habitus	HP:0003782
81848	SPRY4	Abnormality of the voice	HP:0001608
81848	SPRY4	Generalized joint laxity	HP:0002761
81848	SPRY4	Anosmia	HP:0000458
81848	SPRY4	Reduced number of teeth	HP:0009804
81848	SPRY4	Depressivity	HP:0000716
81848	SPRY4	Congenital sensorineural hearing impairment	HP:0008527
81848	SPRY4	Wide intermamillary distance	HP:0006610
81848	SPRY4	Abnormality of cardiovascular system morphology	HP:0030680
81848	SPRY4	Skeletal dysplasia	HP:0002652
81848	SPRY4	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0003164
81848	SPRY4	Pes cavus	HP:0001761
81848	SPRY4	Camptodactyly	HP:0012385
81848	SPRY4	Seizures	HP:0001250
81848	SPRY4	Ataxia	HP:0001251
81848	SPRY4	Pes planus	HP:0001763
81848	SPRY4	Anxiety	HP:0000739
81848	SPRY4	Muscular hypotonia	HP:0001252
81848	SPRY4	Secondary amenorrhea	HP:0000869
81848	SPRY4	Renal agenesis	HP:0000104
81848	SPRY4	Obesity	HP:0001513
81848	SPRY4	Decreased serum testosterone level	HP:0040171
81848	SPRY4	Dysarthria	HP:0001260
81848	SPRY4	Hearing impairment	HP:0000365
81848	SPRY4	Breast hypoplasia	HP:0003187
81848	SPRY4	Visual impairment	HP:0000505
81848	SPRY4	Absence of secondary sex characteristics	HP:0008187
81848	SPRY4	Ptosis	HP:0000508
81848	SPRY4	Reduced bone mineral density	HP:0004349
81848	SPRY4	Nystagmus	HP:0000639
81857	MED25	Short philtrum	HP:0000322
81857	MED25	Areflexia	HP:0001284
81857	MED25	Sparse hair	HP:0008070
81857	MED25	Cataract	HP:0000518
81857	MED25	Autosomal recessive inheritance	HP:0000007
81857	MED25	Ventriculomegaly	HP:0002119
81857	MED25	Abnormal cardiac septum morphology	HP:0001671
81857	MED25	Generalized hypotonia	HP:0001290
81857	MED25	Scoliosis	HP:0002650
81857	MED25	Distal muscle weakness	HP:0002460
81857	MED25	Epicanthus	HP:0000286
81857	MED25	Hypoplasia of the corpus callosum	HP:0002079
81857	MED25	Microcornea	HP:0000482
81857	MED25	Seizures	HP:0001250
81857	MED25	Strabismus	HP:0000486
81857	MED25	Decreased motor nerve conduction velocity	HP:0003431
81857	MED25	Everted lower lip vermilion	HP:0000232
81857	MED25	Spasticity	HP:0001257
81857	MED25	Distal amyotrophy	HP:0003693
81857	MED25	Downslanted palpebral fissures	HP:0000494
81857	MED25	Cleft palate	HP:0000175
81857	MED25	Hypospadias	HP:0000047
81857	MED25	Global developmental delay	HP:0001263
81857	MED25	Hyporeflexia	HP:0001265
81857	MED25	Nevus	HP:0003764
81857	MED25	Tented upper lip vermilion	HP:0010804
81857	MED25	Distal sensory impairment	HP:0002936
81857	MED25	Kyphosis	HP:0002808
81857	MED25	Congenital onset	HP:0003577
81857	MED25	Ptosis	HP:0000508
81857	MED25	Hypertelorism	HP:0000316
81857	MED25	Microcephaly	HP:0000252
81857	MED25	Adult onset	HP:0003581
81857	MED25	Hydronephrosis	HP:0000126
8131	NPRL3	Seizures	HP:0001250
8131	NPRL3	Focal cortical dysplasia type IIa	HP:0032052
8131	NPRL3	Incomplete penetrance	HP:0003829
8131	NPRL3	Autosomal dominant inheritance	HP:0000006
8131	NPRL3	Focal cortical dysplasia	HP:0032046
163786	SASS6	Intellectual disability	HP:0001249
163786	SASS6	Poor speech	HP:0002465
163786	SASS6	Short stature	HP:0004322
163786	SASS6	Seizures	HP:0001250
163786	SASS6	Hyperreflexia	HP:0001347
163786	SASS6	Hypoplasia of the frontal lobes	HP:0007333
163786	SASS6	Upslanted palpebral fissure	HP:0000582
163786	SASS6	Ventriculomegaly	HP:0002119
163786	SASS6	Autosomal recessive inheritance	HP:0000007
163786	SASS6	Cerebellar hypoplasia	HP:0001321
163786	SASS6	Gray matter heterotopia	HP:0002282
163786	SASS6	Vesicoureteral reflux	HP:0000076
163786	SASS6	Aggressive behavior	HP:0000718
163786	SASS6	Global developmental delay	HP:0001263
163786	SASS6	Intellectual disability, severe	HP:0010864
163786	SASS6	Sloping forehead	HP:0000340
163786	SASS6	Pachygyria	HP:0001302
163786	SASS6	Unilateral renal agenesis	HP:0000122
163786	SASS6	Agenesis of corpus callosum	HP:0001274
163786	SASS6	Thin upper lip vermilion	HP:0000219
163786	SASS6	Microcephaly	HP:0000252
163786	SASS6	Abnormal cortical bone morphology	HP:0003103
8139	GAN	Hyperreflexia	HP:0001347
8139	GAN	Abnormality of the hand	HP:0001155
8139	GAN	Facial palsy	HP:0010628
8139	GAN	Areflexia	HP:0001284
8139	GAN	Autosomal recessive inheritance	HP:0000007
8139	GAN	Generalized hypotonia	HP:0001290
8139	GAN	Diffuse axonal swelling	HP:0003405
8139	GAN	Unsteady gait	HP:0002317
8139	GAN	Morphological abnormality of the pyramidal tract	HP:0002062
8139	GAN	Abnormality of the pituitary gland	HP:0012503
8139	GAN	Abnormal pyramidal sign	HP:0007256
8139	GAN	Scoliosis	HP:0002650
8139	GAN	Motor axonal neuropathy	HP:0007002
8139	GAN	Areflexia of lower limbs	HP:0002522
8139	GAN	Distal muscle weakness	HP:0002460
8139	GAN	Slow progression	HP:0003677
8139	GAN	Falls	HP:0002527
8139	GAN	Babinski sign	HP:0003487
8139	GAN	Intellectual disability	HP:0001249
8139	GAN	Pes cavus	HP:0001761
8139	GAN	Talipes equinovarus	HP:0001762
8139	GAN	Abnormal hand morphology	HP:0005922
8139	GAN	Pes planus	HP:0001763
8139	GAN	Curly hair	HP:0002212
8139	GAN	Abnormal cerebellum morphology	HP:0001317
8139	GAN	Juvenile onset	HP:0003621
8139	GAN	CNS hypomyelination	HP:0003429
8139	GAN	Joint hypermobility	HP:0001382
8139	GAN	Hyporeflexia of lower limbs	HP:0002600
8139	GAN	Spasticity	HP:0001257
8139	GAN	Genu valgum	HP:0002857
8139	GAN	Spastic paraplegia	HP:0001258
8139	GAN	Limb muscle weakness	HP:0003690
8139	GAN	Dysarthria	HP:0001260
8139	GAN	Distal amyotrophy	HP:0003693
8139	GAN	Steppage gait	HP:0003376
8139	GAN	Woolly hair	HP:0002224
8139	GAN	Difficulty walking	HP:0002355
8139	GAN	Decreased number of peripheral myelinated nerve fibers	HP:0003380
8139	GAN	Proximal muscle weakness	HP:0003701
8139	GAN	Abnormality of the Achilles tendon	HP:0005109
8139	GAN	Distal sensory impairment	HP:0002936
8139	GAN	Pili canaliculi	HP:0002235
8139	GAN	Sensory axonal neuropathy	HP:0003390
8139	GAN	Nystagmus	HP:0000639
139212	PIH1D3	Situs inversus totalis	HP:0001696
139212	PIH1D3	Neonatal respiratory distress	HP:0002643
139212	PIH1D3	Recurrent sinusitis	HP:0011108
139212	PIH1D3	Infertility	HP:0000789
139212	PIH1D3	X-linked recessive inheritance	HP:0001419
139212	PIH1D3	Recurrent respiratory infections	HP:0002205
139212	PIH1D3	Bronchiectasis	HP:0002110
139212	PIH1D3	Cough	HP:0012735
286676	ILDR1	Nonprogressive	HP:0003680
286676	ILDR1	Autosomal recessive inheritance	HP:0000007
286676	ILDR1	Sensorineural hearing impairment	HP:0000407
286676	ILDR1	Infantile onset	HP:0003593
147409	DSG4	Pili torti	HP:0003777
147409	DSG4	Intellectual disability	HP:0001249
147409	DSG4	Abnormality of the dentition	HP:0000164
147409	DSG4	Fine hair	HP:0002213
147409	DSG4	Cataract	HP:0000518
147409	DSG4	Autosomal recessive inheritance	HP:0000007
147409	DSG4	Slow-growing hair	HP:0002217
147409	DSG4	Sparse eyelashes	HP:0000653
147409	DSG4	Hypotrichosis of the scalp	HP:0004782
147409	DSG4	Follicular hyperkeratosis	HP:0007502
147409	DSG4	Hypotrichosis	HP:0001006
147409	DSG4	Schizophrenia	HP:0100753
147409	DSG4	Abnormal eyelash morphology	HP:0000499
147409	DSG4	Abnormal eyebrow morphology	HP:0000534
147409	DSG4	Sparse and thin eyebrow	HP:0000535
147409	DSG4	Sparse body hair	HP:0002231
147409	DSG4	Patchy alopecia	HP:0002232
147409	DSG4	Brittle hair	HP:0002299
147409	DSG4	Alopecia	HP:0001596
147409	DSG4	Pruritus	HP:0000989
147409	DSG4	Abnormality of the nail	HP:0001597
147409	DSG4	Cognitive impairment	HP:0100543
147409	DSG4	Erythema	HP:0010783
8148	TAF15	Nausea and vomiting	HP:0002017
8148	TAF15	Skeletal muscle atrophy	HP:0003202
8148	TAF15	Muscle spasm	HP:0003394
8148	TAF15	Anxiety	HP:0000739
8148	TAF15	Neurodegeneration	HP:0002180
8148	TAF15	Emotional lability	HP:0000712
8148	TAF15	Spasticity	HP:0001257
8148	TAF15	Agitation	HP:0000713
8148	TAF15	Depressivity	HP:0000716
8148	TAF15	Chondrosarcoma	HP:0006765
8148	TAF15	Paralysis	HP:0003470
8148	TAF15	Dyspnea	HP:0002094
8148	TAF15	Laryngospasm	HP:0025425
8148	TAF15	Fatigable weakness of swallowing muscles	HP:0030195
8148	TAF15	Pain	HP:0012531
8148	TAF15	Somatic mutation	HP:0001428
8148	TAF15	Fatigable weakness of respiratory muscles	HP:0030196
8148	TAF15	Xerostomia	HP:0000217
8148	TAF15	Amyotrophic lateral sclerosis	HP:0007354
8148	TAF15	Fatigue	HP:0012378
8148	TAF15	Generalized muscle weakness	HP:0003324
8148	TAF15	Respiratory failure	HP:0002878
344018	FIGLA	Premature ovarian insufficiency	HP:0008209
344018	FIGLA	Hypoplasia of the uterus	HP:0000013
344018	FIGLA	Sex-limited autosomal dominant	HP:0001470
81887	LAS1L	Absent speech	HP:0001344
81887	LAS1L	Gynecomastia	HP:0000771
81887	LAS1L	Short ear	HP:0400005
81887	LAS1L	Hypogonadism	HP:0000135
81887	LAS1L	Broad nasal tip	HP:0000455
81887	LAS1L	Emotional lability	HP:0000712
81887	LAS1L	X-linked recessive inheritance	HP:0001419
81887	LAS1L	X-linked dominant inheritance	HP:0001423
81887	LAS1L	Abnormal facial shape	HP:0001999
81887	LAS1L	Prominent supraorbital ridges	HP:0000336
81887	LAS1L	Retrognathia	HP:0000278
81887	LAS1L	Micrognathia	HP:0000347
81887	LAS1L	Thin upper lip vermilion	HP:0000219
81887	LAS1L	Cryptorchidism	HP:0000028
81887	LAS1L	Tapered finger	HP:0001182
81887	LAS1L	Decreased testicular size	HP:0008734
81887	LAS1L	Intellectual disability	HP:0001249
81887	LAS1L	Pes cavus	HP:0001761
81887	LAS1L	Poor speech	HP:0002465
81887	LAS1L	Seizures	HP:0001250
81887	LAS1L	Short stature	HP:0004322
81887	LAS1L	Pes planus	HP:0001763
81887	LAS1L	Truncal obesity	HP:0001956
81887	LAS1L	Muscular hypotonia	HP:0001252
81887	LAS1L	Microtia	HP:0008551
81887	LAS1L	Obesity	HP:0001513
81887	LAS1L	Deeply set eye	HP:0000490
81887	LAS1L	Hypogonadotrophic hypogonadism	HP:0000044
81887	LAS1L	Short foot	HP:0001773
81887	LAS1L	Global developmental delay	HP:0001263
81887	LAS1L	Specific learning disability	HP:0001328
81887	LAS1L	Small hand	HP:0200055
81887	LAS1L	Misalignment of teeth	HP:0000692
81887	LAS1L	Micropenis	HP:0000054
81887	LAS1L	Delayed puberty	HP:0000823
81887	LAS1L	Brachycephaly	HP:0000248
81887	LAS1L	Kyphosis	HP:0002808
81887	LAS1L	Microcephaly	HP:0000252
81887	LAS1L	Malar prominence	HP:0010620
81887	LAS1L	Thick eyebrow	HP:0000574
81887	LAS1L	Decreased muscle mass	HP:0003199
57338	JPH3	Weight loss	HP:0001824
57338	JPH3	Irritability	HP:0000737
57338	JPH3	Hallucinations	HP:0000738
57338	JPH3	Hyperreflexia	HP:0001347
57338	JPH3	Anxiety	HP:0000739
57338	JPH3	Caudate atrophy	HP:0002340
57338	JPH3	Apathy	HP:0000741
57338	JPH3	Autosomal dominant inheritance	HP:0000006
57338	JPH3	Cerebral cortical atrophy	HP:0002120
57338	JPH3	Gait disturbance	HP:0001288
57338	JPH3	Action tremor	HP:0002345
57338	JPH3	Delusions	HP:0000746
57338	JPH3	Depressivity	HP:0000716
57338	JPH3	Dysarthria	HP:0001260
57338	JPH3	Primitive reflex	HP:0002476
57338	JPH3	Functional motor deficit	HP:0004302
57338	JPH3	Rigidity	HP:0002063
57338	JPH3	Personality changes	HP:0000751
57338	JPH3	Memory impairment	HP:0002354
57338	JPH3	Bradykinesia	HP:0002067
57338	JPH3	Dystonia	HP:0001332
57338	JPH3	Parkinsonism	HP:0001300
57338	JPH3	Dementia	HP:0000726
57338	JPH3	Chorea	HP:0002072