TaoMedAI/RareMedData huggingface dataset:
Gene: CHST14
Phenotype: Redundant skin (HP:0001582)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Brachycephaly (HP:0000248)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: High palate (HP:0000218)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: High palate (HP:0000218)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Diastasis recti (HP:0001540)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Ecchymosis (HP:0031364)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Low-set ears (HP:0000369)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Long philtrum (HP:0000343)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Long philtrum (HP:0000343)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Broad forehead (HP:0000337)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Hypertelorism (HP:0000316)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Microretrognathia (HP:0000308)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Macrotia (HP:0000400)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Astigmatism (HP:0000483)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Astigmatism (HP:0000483)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Strabismus (HP:0000486)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Strabismus (HP:0000486)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Microcornea (HP:0000482)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Protruding ear (HP:0000411)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Protruding ear (HP:0000411)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Telecanthus (HP:0000506)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Glaucoma (HP:0000501)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Glaucoma (HP:0000501)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Dysesthesia (HP:0012534)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Myopia (HP:0000545)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Myopia (HP:0000545)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: KIF12
Phenotype: Cholestasis (HP:0001396)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Portal hypertension (HP:0001409)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Esophageal varix (HP:0002040)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: KIF12
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Gene: SLC46A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Seizure (HP:0001250)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Ataxia (HP:0001251)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Malabsorption (HP:0002024)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Diarrhea (HP:0002014)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Reduced blood folate concentration (HP:0100507)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Anorexia (HP:0002039)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Impaired folate absorption (HP:6000258)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Folate-responsive megaloblastic anemia (HP:0004851)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Athetosis (HP:0002305)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Irritability (HP:0000737)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)