Biallelic RB1 Gene Mutation

Preferred Label : Biallelic RB1 Gene Mutation;

NCIt synonyms : Biallelic Retinoblastoma Gene Mutation; RB1 Biallelic Mutation; Biallelic RB1 Mutation; RB1 Biallelic Gene Mutation; RB1 Gene Biallelic Mutation; Biallelic Retinoblastoma 1 Gene Mutation; RB Biallelic Mutation; Biallelic RB Gene Mutation;

NCIt definition : The presence of mutations in both alleles of the RB1 gene.;

NCI Metathesaurus CUI : CL1663621;

Details

Origin ID

C180940;

UMLS CUI

C5556734;

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
- RB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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