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congenital bile acid synthesis defect

^ http://purl.obolibrary.org/obo/DOID_0050674


A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. [ url:https://www.ncbi.nlm.nih.gov/pubmed/12543708 url:https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ ]

Synonyms: CBA, 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency

Term info

database cross reference
  • ICD10CM:K76.8
Subsets

DO_rare_slim

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050674

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