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DOID:0111068 - congenital bile acid synthesis defect 4
Disease Ontology 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.
Synonyms: CBAS4, intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid, trihydroxycoprostanic acid in bile
Xenbase Genes : amacr
MONDO:0008967 - congenital bile acid synthesis defect 4 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee