Rhabdomyosarcoma 2

Preferred Label : Rhabdomyosarcoma 2;

Symbol : RMS2;

CISMeF acronym : RMSA; RMS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RMSA; Rhabdomyosarcoma, alveolar;

Inheritance : Somatic mutation;

Molecular basis : Caused by fusion of the FKHR gene (136533) with the PAX3 gene (606597) or the PAX7 gene (167410);

Neoplasia : Alveolar rhabdomyosarcoma;

Prefixed ID : #268220;

Détails

Origin ID

268220;

UMLS CUI

C0206655;

Automatic exact mappings (from CISMeF team)
- Childhood Alveolar Rhabdomyosarcoma [NCIt concept]
Broader ORDO disease(s)
- Rhabdomyosarcoma [ORDO Disease]
Currated CISMeF NLP mapping
- Alveolar Rhabdomyosarcoma [NCIt concept]
- Alveolar rhabdomyosarcoma [PASCAL descriptor]
- Alveolar rhabdomyosarcoma [ICD-11 Extension code]
- Alveolar rhabdomyosarcoma [ICD-O code]
- Alveolar rhabdomyosarcoma [ICD-9 code]
- Alveolar rhabdomyosarcoma [HPO term]
- Alveolar rhabdomyosarcoma [MedDRA Preferred Term]
- Alveolar rhabdomyosarcoma [ORDO Disease]
- Alveolar rhabdomyosarcoma (disorder) [SNOMED CT concept]
- Alveolar rhabdomyosarcoma (morphologic abnormality) [SNOMED CT concept]
- alveolar rhabdomyosarcoma [DO Concept]
- alveolar rhabdomyosarcoma [SNOMED Notion]
- rhabdomyosarcoma, alveolar [MeSH Descriptor]
- rhabdomyosarcoma, alveolar [MeSH concept]
DO Cross reference
- alveolar rhabdomyosarcoma [DO Concept]
Genes related to phenotype
- Forkhead box o1a [OMIM gene]
- Paired box gene 3 [OMIM gene]
- Paired box gene 7 [OMIM gene]
HPO term(s)
- Alveolar rhabdomyosarcoma [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Alveolar rhabdomyosarcoma [ORDO Disease]
- Rhabdomyosarcoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Alveolar Rhabdomyosarcoma [NCIt concept]
- Alveolar rhabdomyosarcoma [MedDRA Preferred Term]
- Alveolar rhabdomyosarcoma [ORDO Disease]
- Alveolar rhabdomyosarcoma [ICD-O code]
- Alveolar rhabdomyosarcoma [HPO term]
- Alveolar rhabdomyosarcoma [PASCAL descriptor]
- Alveolar rhabdomyosarcoma (disorder) [SNOMED CT concept]
- Alveolar rhabdomyosarcoma (morphologic abnormality) [SNOMED CT concept]
- alveolar rhabdomyosarcoma [SNOMED Notion]
- alveolar rhabdomyosarcoma [DO Concept]
- alveolar rhabdomyosarcoma [Disease (Nov.)]
- rhabdomyosarcoma, alveolar [MeSH Descriptor]
- rhabdomyosarcoma, alveolar [MeSH concept]

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