Search Ontology:
Human Disease

alpha 1-antitrypsin deficiency

Term ID
DOID:13372
Synonyms
  • AAT 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. (4)
References
  • GARD:5784
  • ICD10CM:E88.01
  • ICD9CM:273.4
  • MESH:D019896
  • NCI:C84397
  • OMIM:613490
  • SNOMEDCT_US_2023_03_01:30188007
  • UMLS_CUI:C0221757
Ontology
Human Disease   ( DOID:13372 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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