Biallelic ADA2 Gene Mutation

Preferred Label : Biallelic ADA2 Gene Mutation;

NCIt synonyms : Biallelic PAN Gene Mutation; Biallelic CECR1 Gene Mutation; Biallelic ADA2 Mutation; Biallelic Adenosine Deaminase 2 Gene Mutation; ADA2 Biallelic Mutation; Biallelic ADGF Gene Mutation; ADA2 Biallelic Gene Mutation;

NCIt definition : The presence of mutations in both alleles of the ADA2 gene.;

NCI Metathesaurus CUI : CL1407464;

Details

Origin ID

C173463;

UMLS CUI

C5421301;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- ADA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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