TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM67
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Short long bone (HP:0003026)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Agitation (HP:0000713)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Biparietal narrowing (HP:0004422)
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: Biparietal narrowing (HP:0004422)
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 the skeletal system (HP:0000924)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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 the hypothalamus-pituitary axis (HP:0000864)
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: Anterior hypopituitarism (HP:0000830)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Hypertension (HP:0000822)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Hypertension (HP:0000822)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Osteoporosis (HP:0000939)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Osteopenia (HP:0000938)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Osteopenia (HP:0000938)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Macrocephaly (HP:0000256)
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: Long face (HP:0000276)
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: Long face (HP:0000276)
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: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Hydrocephalus (HP:0000238)
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: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Hydrocephalus (HP:0000238)
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: Neoplasm of the liver (HP:0002896)
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: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Episodic tachypnea (HP:0002876)
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: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Ascites (HP:0001541)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Orofacial cleft (HP:0000202)
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: Orofacial cleft (HP:0000202)
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: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Growth delay (HP:0001510)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Growth delay (HP:0001510)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: TMEM67
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Total ophthalmoplegia (HP:0007824)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Reduced number of intrahepatic bile ducts (HP:0006571)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Intrahepatic biliary atresia (HP:0005248)
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: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
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: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Situs inversus totalis (HP:0001696)
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: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Low-set ears (HP:0000369)
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: Low-set ears (HP:0000369)
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: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Round face (HP:0000311)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Radial bowing (HP:0002986)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Deeply set eye (HP:0000490)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Anteverted nares (HP:0000463)
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: Anteverted nares (HP:0000463)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Anteverted nares (HP:0000463)
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: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Splenomegaly (HP:0001744)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Splenomegaly (HP:0001744)
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: Prominent nasal bridge (HP:0000426)
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: Prominent nasal bridge (HP:0000426)
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: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: TMEM67
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Foot polydactyly (HP:0001829)
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: Ptosis (HP:0000508)
Associated disease: RHYNS SYNDROME (OMIM:602152)
Gene: TMEM67
Phenotype: Ptosis (HP:0000508)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Ptosis (HP:0000508)
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: Ptosis (HP:0000508)
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: Ptosis (HP:0000508)
Associated disease: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; RHYNS syndrome (ORPHA:140976)
Gene: TMEM67
Phenotype: Visual impairment (HP:0000505)
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 foot polydactyly (HP:0001830)
Associated disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Gene: TMEM67
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Renal atrophy (HP:0012585)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: TMEM67
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Exotropia (HP:0000577)
Associated disease: RHYNS SYNDROME (OMIM:602152)