Metadata | |
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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, https://pubmed.ncbi.nlm.nih.gov/2166947/, https://pubmed.ncbi.nlm.nih.gov/2783588/ |
Xrefs |
SNOMEDCT_US_2023_03_01:190999009 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
ADA [EXACT] |
Parent Relationships |