congenital bile acid synthesis defect 6 Disease Ontology Browser

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congenital bile acid synthesis defect 6 (DOID:0111067)
Alliance: disease page
Synonyms: CBAS6
Alt IDs: OMIM:617308
Definition: A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.

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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