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Disease Ontology Browser
congenital bile acid synthesis defect 4 (DOID:0111068)
Alliance: disease page
Synonyms: CBAS4; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid; trihydroxycoprostanic acid in bile
Alt IDs: OMIM:214950, MESH:C535444, ORDO:79095, UMLS_CUI:C1858328
Definition: A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.


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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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory