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Disease Ontology Browser
congenital bile acid synthesis defect 3 (DOID:0111070)
Synonyms: CBAS3; oxysterol 7-alpha-hydroxylase deficiency
Alt IDs: OMIM:613812, ICD10CM:K76.8, 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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/19/2017
MGI 6.10
The Jackson Laboratory