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Disease Ontology Browser
alpha 1-antitrypsin deficiency (DOID:13372)
Alliance: disease page
Synonyms: AAT deficiency
Alt IDs: OMIM:613490, ICD10CM:E88.01, ICD9CM:273.4, MESH:D019896, NCI:C84397, UMLS_CUI:C0221757
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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory