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Metadata
DOID 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

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]

Relationships

is_a steroid inherited metabolic disorder

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