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Metadata
ID DOID:5810
Name adenosine deaminase deficiency
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.
http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency
Xrefs

GARD:5748

ICD10CM:D81.30

NCI:C3962

OMIM:102700

SNOMEDCT_US_2019_09_01:44940001

UMLS_CUI:C0268124

Subsets

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Synonyms

ADA [EXACT]

Parent Relationships

is_a severe combined immunodeficiency

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