Category:Alpha 1-antitrypsin deficiency

A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. OMIM mapping confirmed by DO. [SN]. equivalent URI:=http://purl.obolibrary.org/obo/DOID_13372