congenital bile acid synthesis defect 5 (DOID:0111066)
Alliance: disease page
Synonyms: CBAS5
Alt IDs: OMIM:616278
Definition: 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.