t(2;13)(q35;q14)

Preferred Label : t(2;13)(q35;q14);

NCIt synonyms : t 2 13 q35 q14;

NCIt related terms : t(2;13)(q35;q14) (Rhabdomyosarcoma);

NCIt definition : A chromosomal translocation involving the PAX3 gene on chromosome 2q35 and the FOXO1 gene on chromosome 13q14.;

Details

Origin ID

C36389;

UMLS CUI

C1515752;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Sarcoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 13 [NCIt concept]
- Human Chromosome 2 [NCIt concept]
is_abnormality_of_gene
- PAX3/FOXO1 Fusion Gene [NCIt concept]
is_not_cytogenetic_abnormality_of_disease
- Fusion-Negative Alveolar Rhabdomyosarcoma [NCIt concept]
- Fusion-Negative Rhabdomyosarcoma [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Fusion-Positive Alveolar Rhabdomyosarcoma [NCIt concept]
- Fusion-Positive Rhabdomyosarcoma [NCIt concept]
molecular_abnormality_involves_gene
- FOXO1 Gene [NCIt concept]
- PAX3 Gene [NCIt concept]
- PAX3/FOXO1 Fusion Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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