TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A46
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Intention tremor (HP:0002080)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Steppage gait (HP:0003376)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Congenital laryngeal stridor (HP:0004886)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Nystagmus (HP:0000639)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Cerebellar gliosis (HP:0012698)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Inverted nipples (HP:0003186)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Respiratory failure (HP:0002878)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Death in infancy (HP:0001522)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Strabismus (HP:0000486)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Scotoma (HP:0000575)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Exotropia (HP:0000577)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Esotropia (HP:0000565)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Brachydactyly (HP:0001156)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Enlarged fossa interpeduncularis (HP:0100951)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Multiple small medullary renal cysts (HP:0008659)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Anisocoria (HP:0009916)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Thickened superior cerebellar peduncle (HP:0002404)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Seizure (HP:0001250)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Seizure (HP:0001250)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Hypotonia (HP:0001252)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Hypotonia (HP:0001252)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Ataxia (HP:0001251)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Ataxia (HP:0001251)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: TMEM67
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: TMEM67
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Spasticity (HP:0001257)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Short femoral neck (HP:0100864)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: TMEM67
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Cholestasis (HP:0001396)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Cirrhosis (HP:0001394)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM67
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Dystonia (HP:0001332)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)