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DO Term : alpha 1-antitrypsin deficiency [DOID:13372] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
ICD9CM:273.4,
613490,
GARD:5784,
MESH:D019896,
UMLS_CUI:C0221757,
ICD10CM:E88.01,
SNOMEDCT_US_2023_03_01:30188007,
AAT deficiency,
NCI:C84397,
OMIM:613490

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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