Visualize Submit Comment
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

ICD10CM:K76.8

ORDO:485631

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

Add an item to the term tracker