TaoMedAI/RareMedData huggingface dataset:
Gene: NDUFAF6
Phenotype: Hypertension (HP:0000822)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Genu valgum (HP:0002857)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Growth delay (HP:0001510)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Abnormal urine pH (HP:0032943)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Pes planus (HP:0001763)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Weight loss (HP:0001824)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NKX2-6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Arteria lusoria (HP:0031014)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Right aortic arch (HP:0012020)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-6
Phenotype: Tachypnea (HP:0002789)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Broad hallux (HP:0010055)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-6
Phenotype: Adrenocortical abnormality (HP:0000849)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Anomalous origin of one pulmonary artery from ascending aorta (HP:0011660)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Single coronary artery origin (HP:0011640)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Cyanosis (HP:0000961)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Abnormal superior vena cava morphology (HP:0025575)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-6
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Tachycardia (HP:0001649)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Anomalous origin of the left common carotid artery from the brachiocephalic artery (HP:0031635)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Abnormal heart valve physiology (HP:0031653)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-6
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-6
Phenotype: Abnormal coronary artery morphology (HP:0006704)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: NKX2-6
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-6
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: HGSNAT
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Visual field defect (HP:0001123)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Motor delay (HP:0001270)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Seizure (HP:0001250)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Diarrhea (HP:0002014)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Dysphagia (HP:0002015)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Ovoid thoracolumbar vertebrae (HP:0003309)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Middle age onset (HP:0003596)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Coarse hair (HP:0002208)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Hernia (HP:0100790)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Loss of speech (HP:0002371)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Hirsutism (HP:0001007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Cellular metachromasia (HP:0003653)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Motor deterioration (HP:0002333)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Macular crystals (HP:0030501)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Ring scotoma (HP:0030529)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Blurred vision (HP:0000622)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Central scotoma (HP:0000603)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Synophrys (HP:0000664)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)