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Disease Ontology Browser
congenital bile acid synthesis defect 1 (DOID:0111071)
Alliance: disease page
Synonyms: CBAS1
Alt IDs: OMIM:607765, MESH:C535442, ORDO:79301, UMLS_CUI:C1843116
Definition: A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory