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DOID:0070223 - progressive familial intrahepatic cholestasis 3
Disease Ontology Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.
Synonyms: MDR3 deficiency, PFIC3, progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase,
Echinobase Genes : abcb4, abcb4
MIM:602347 - cholestasis, progressive familial intrahepatic, 3; pfic3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee