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congenital bile acid synthesis defect (DOID:0050674)
Alliance: disease page
Synonyms: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; CBA; cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
Alt IDs: ICD10CM:K76.8
Definition: A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/17/2022
MGI 6.19
The Jackson Laboratory