congenital bile acid synthesis defect Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

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, ORDO:485631
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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24