About   Help   FAQ
Disease Ontology Browser
congenital bile acid synthesis defect 2 (DOID:0111069)
Alliance: disease page
Synonyms: CBAS2; cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Alt IDs: OMIM:235555, MESH:C535443, ORDO:79303, UMLS_CUI:C1856127
Definition: A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.


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 & Copyright Notice
Send questions and comments to User Support.
last database update
08/03/2022
MGI 6.21
The Jackson Laboratory