Homozygous ATM Gene Mutation

Preferred Label : Homozygous ATM Gene Mutation;

NCIt synonyms : Homozygous ATM Serine/Threonine Kinase Gene Mutation; Homozygous Ataxia Telangiectasia Mutated Gene Mutation; ATM Homozygous Mutation; ATM Gene Homozygous Mutation; Homozygous AT Mutated Gene Mutation; Homozygous A-T Mutated Gene Mutation; ATM Homozygous Gene Mutation;

NCIt definition : The presence of an identical mutation in both alleles of the ATM gene.;

NCI Metathesaurus CUI : CL1907057;

Details

Origin ID

C200214;

UMLS CUI

C5856168;

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
- ATM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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