TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM67
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Multicystic kidney dysplasia (HP:0000003)
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: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Tremor (HP:0001337)
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: Tremor (HP:0001337)
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: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
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: Cerebellar vermis hypoplasia (HP:0001320)
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: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Congenital hepatic fibrosis (HP:0002612)
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: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Cleft palate (HP:0000175)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Wide mouth (HP:0000154)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Tubular luminal dilatation (HP:0032622)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Abnormal pattern of respiration (HP:0002793)
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: Abnormal pattern of respiration (HP:0002793)
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: Nephropathy (HP:0000112)
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: Abnormal abdomen morphology (HP:0001438)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Renal cyst (HP:0000107)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Polyuria (HP:0000103)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Portal hypertension (HP:0001409)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Portal hypertension (HP:0001409)
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: Bile duct proliferation (HP:0001408)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Abnormal renal insterstitial morphology (HP:0032581)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
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: Breathing dysregulation (HP:0005957)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Occipital encephalocele (HP:0002085)
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: Encephalocele (HP:0002084)
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: Encephalocele (HP:0002084)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Esophageal varix (HP:0002040)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: TMEM67
Phenotype: Polydactyly (HP:0010442)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Intrahepatic bile duct dilatation (HP:0033149)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Polymicrogyria (HP:0002126)
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: Apnea (HP:0002104)
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: Apnea (HP:0002104)
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: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Small epiphyses (HP:0010585)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Infantile onset (HP:0003593)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Abnormality of neuronal migration (HP:0002269)
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: Abnormality of neuronal migration (HP:0002269)
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: Congenital onset (HP:0003577)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Congenital onset (HP:0003577)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Hepatomegaly (HP:0002240)
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: Aganglionic megacolon (HP:0002251)
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: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Intellectual disability, moderate (HP:0002342)
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: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Chronic hepatic failure (HP:0100626)
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: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Thickening of the tubular basement membrane (HP:0020132)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Tubular basement membrane disintegration (HP:0005583)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Abducens palsy (HP:0006897)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Nystagmus (HP:0000639)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Nystagmus (HP:0000639)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: TMEM67
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Blindness (HP:0000618)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Iris coloboma (HP:0000612)
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: Iris coloboma (HP:0000612)
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: Polydipsia (HP:0001959)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Polydipsia (HP:0001959)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Anemia (HP:0001903)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Anemia (HP:0001903)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Abnormal long bone morphology (HP:0011314)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Oculomotor apraxia (HP:0000657)
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: Oculomotor apraxia (HP:0000657)
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: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Short stature (HP:0004322)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)