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Disease Ontology Browser
congenital bile acid synthesis defect 3 (DOID:0111070)
Alliance: disease page
Synonyms: CBAS3; oxysterol 7-alpha-hydroxylase deficiency
Alt IDs: OMIM:613812, MESH:C566340, ORDO:79302, UMLS_CUI:C3151147
Definition: A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.

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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory