| Disease ID | Source | Name | Description |
| 616278 | OMIM | Congenital bile acid synthesis defect 5 (CBAS5) | An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. The disease is caused by variants affecting the gene represented in this entry. |