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