About   Help   FAQ
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 (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/05/2017
MGI 6.11
The Jackson Laboratory