progressive familial intrahepatic cholestasis 3

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: abcb4, abcb4

OMIM:

MIM:602347 - cholestasis, progressive familial intrahepatic, 3; pfic3

MIM:602347 - cholestasis, progressive familial intrahepatic, 3; pfic3

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), progressive familial intrahepatic cholestasis (is_a)