Term Name: progressive familial intrahepatic cholestasis 3
Synonyms: MDR3 deficiency, PFIC3, progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
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.
Ontology: Human Disease [DOID:0070223]   ( DOID:0070223 )

Relationships
is a type of: autosomal recessive disease progressive familial intrahepatic cholestasis