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Summary Literature (0)
DOID:13372 - alpha 1-antitrypsin deficiency

Disease Ontology Definition: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.

Synonyms: AAT deficiency,

Xenbase Genes : serpina1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013282 - alpha 1-antitrypsin deficiency


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): plasma protein metabolism disease (is_a)