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DOID:0111070 - congenital bile acid synthesis defect 3
Disease Ontology Definition:A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.
Synonyms: CBAS3, oxysterol 7-alpha-hydroxylase deficiency,
Xenbase Genes : cyp7b1
MONDO:0013439 - congenital bile acid synthesis defect 3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee