Search Ontology:
Human Disease

adenosine deaminase deficiency

Term ID
DOID:5810
Synonyms
  • ADA
Definition
A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. (3)
References
  • GARD:5748
  • ICD10CM:D81.30
  • MIM:102700
  • NCI:C3962
  • SNOMEDCT_US_2023_03_01:190999009
  • UMLS_CUI:C0268124
Ontology
Human Disease   ( DOID:5810 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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