FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term adenosine deaminase deficiency ID (Ontology) DOID:5810 (Human Disease)
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.
Also Known As "ADA"
Comment
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DO.org
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  combined immunodeficiency
   |__severe combined immunodeficiency
       |__adenosine deaminase deficiency
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Is a severe combined immunodeficiency
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Synonyms
  • "ADA" EXACT OMO:0003012
Secondary IDs
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GARD:5748
ICD10CM:D81.30
MIM:102700
NCI:C3962
SNOMEDCT_US_2023_03_01:190999009
UMLS_CUI:C0268124