Term Name:	congenital bile acid synthesis defect 3
Synonyms:	CBAS3, oxysterol 7-alpha-hydroxylase deficiency
Definition:	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.
Ontology:	Human Disease [DOID:0111070]   ( DOID:0111070 )