congenital bile acid synthesis defect 6 (DOID:0111067)
Alliance: disease page
Synonyms: CBAS6
Alt IDs: OMIM:617308
Definition: 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.