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://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/, https://www.ncbi.nlm.nih.gov/pubmed/12543708 |
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 |