_:vb50944162 . _:vb50944163 . _:vb50944162 . . _:vb50944162 . _:vb50944161 . "CBAS5"@en . _:vb50944163 . "disease_ontology"^^ . _:vb50944161 . "OMIM:616278"^^ . _:vb50944162 . _:vb50944163 . _:vb50944162 . . . _:vb50944161 . "congenital bile acid synthesis defect 5"^^ . "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21."^^ . "DOID:0111066"^^ . _:vb50944163 . _:vb50944161 . _:vb50944161 . _:vb50944163 .