| Metadata | |
|---|---|
| ID | DOID:0111066 |
| Name | congenital bile acid synthesis defect 5 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/25168382 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CBAS5 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some left upper quadrant abdominal rigidity disease has basis in some structural_variant disease has basis in some Abnormality of prenatal development or birth |