. _:vb50944178 . "UMLS_CUI:C1843116"^^ . "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."^^ . _:vb50944178 . _:vb50944178 . "disease_ontology"^^ . _:vb50944177 . _:vb50944177 . _:vb50944178 . "OMIM:607765"^^ . _:vb50944178 . . "congenital bile acid synthesis defect 1"^^ . "CBAS1"@en . . _:vb50944177 . "MESH:C535442"^^ . _:vb50944177 . _:vb50944177 . "DOID:0111071"^^ . "ORDO:79301"^^ .