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Echinobase
Summary Literature (0)
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,

Echinobase Genes : amacr


OMIM:
MIM:214950 - bile acid synthesis defect, congenital, 4; cbas4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital bile acid synthesis defect (is_a)