progressive familial intrahepatic cholestasis 3 (DOID:0070223)
Alliance: disease page
Synonyms: MDR3 deficiency; PFIC3; progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
Alt IDs: OMIM:602347, MESH:C535935, ORDO:79305, UMLS_CUI:C1865643
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.