Term Name:	congenital bile acid synthesis defect 1
Synonyms:	CBAS1
Definition:	A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.
Ontology:	Human Disease [DOID:0111071]   ( DOID:0111071 )