| Term Name: | congenital bile acid synthesis defect 6 |
|---|---|
| Synonyms: | CBAS6 |
| 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. |
| Ontology: | Human Disease [DOID:0111067] ( DOID:0111067 ) |