congenital bile acid synthesis defect 1 (DOID:0111071)
Alliance: disease page
Synonyms: CBAS1
Alt IDs: OMIM:607765, MESH:C535442, ORDO:79301, UMLS_CUI:C1843116
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.