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Metadata
DOID DOID:13372
Name alpha 1-antitrypsin 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.
http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm
Xrefs

GARD:5784

ICD10CM:E88.01

ICD9CM:273.4

MESH:D019896

MTHICD9_2006:273.4

NCI:C84397

OMIM:613490

SNOMEDCT_US_2018_03_01:30188007

UMLS_CUI:C0221757

Subsets

DO_FlyBase_slim

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Synonyms

AAT deficiency [EXACT]

Relationships

is_a plasma protein metabolism disease

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