_:vb50944165 . "congenital bile acid synthesis defect 6"^^ . _:vb50944166 . "DOID:0111067"^^ . _:vb50944165 . _:vb50944165 . "OMIM:617308"^^ . _:vb50944165 . . _:vb50944166 . _:vb50944166 . "disease_ontology"^^ . _:vb50944166 . _:vb50944165 . "CBAS6"@en . . _:vb50944166 . . "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14."^^ .