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Metadata
ID 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.
https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency, http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm, http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, https://alpha1.org/what-is-alpha1/
Xrefs

GARD:5784

ICD10CM:E88.01

ICD9CM:273.4

MESH:D019896

MIM:613490

NCI:C84397

SNOMEDCT_US_2023_03_01:30188007

UMLS_CUI:C0221757

SKOS

exactMatch MESH:D019896

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

AAT deficiency [EXACT]

Parent Relationships

is_a plasma protein metabolism disease

Subclass Logical Relationships

has material basis in exactly 1 (loss_of_function_variant and disease has location exactly 1 (gene))

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