FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term alpha 1-antitrypsin deficiency ID (Ontology) DOID:13372 (Human Disease)
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.
Also Known As "AAT deficiency"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       5
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 alpha 1-antitrypsin deficiency       5      2      1
 for disease ribbon | alpha 1-antitrypsin deficiency       --       1       --
 model of | alpha 1-antitrypsin deficiency       5      1       --
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  inherited metabolic disorder
   |__plasma protein metabolism disease
       |__alpha 1-antitrypsin deficiency  8 rec.
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Is a plasma protein metabolism disease
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Synonyms
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Secondary IDs
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GARD:5784
ICD10CM:E88.01
ICD9CM:273.4
MESH:D019896
MIM:613490
NCI:C84397
SNOMEDCT_US_2023_03_01:30188007
UMLS_CUI:C0221757