| Metadata | |
|---|---|
| ID | DOID:0050674 |
| Name | congenital bile acid synthesis defect |
| Definition | A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. https://www.ncbi.nlm.nih.gov/pubmed/12543708, https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency [EXACT] CBA [EXACT] cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency [EXACT] |
| Parent Relationships |
is_a steroid inherited metabolic disorder is_a physical disorder |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |