Term Name:	congenital bile acid synthesis defect 4
Synonyms:	CBAS4, intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid, trihydroxycoprostanic acid in bile
Definition:	A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.
Ontology:	Human Disease [DOID:0111068]   ( DOID:0111068 )