| Metadata | |
|---|---|
| ID | DOID:0111067 |
| Name | congenital bile acid synthesis defect 6 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/27647924, https://www.ncbi.nlm.nih.gov/pubmed/27884763 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CBAS6 [EXACT] |
| Parent Relationships |