DISEASES

Disease-gene associations mined from literature

Human genes for congenital bile acid synthesis defect 3

Congenital bile acid synthesis defect 3 [DOID:0111070]

A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.

Synonyms:  congenital bile acid synthesis defect 3,  DOID:0111070,  CBAS3,  oxysterol 7-alpha-hydroxylase deficiency,  oxysterol 7alphahydroxylase deficiency