Term Name: | alpha 1-antitrypsin deficiency |
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Synonyms: | AAT deficiency |
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. |
Ontology: | Human Disease [DOID:13372] ( DOID:13372 ) |