Human genes for progressive familial intrahepatic cholestasis 3
Progressive familial intrahepatic cholestasis 3 [DOID:0070223]
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: progressive familial intrahepatic cholestasis 3, DOID:0070223, progressive hereditary intrahepatic cholestasis 3, MDR3 deficiency, PFIC3 ...