Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

RHABDOMYOSARCOMA 2

Synonyms

RHABDOMYOSARCOMA, ALVEOLAR

ID

http://purl.bioontology.org/ontology/OMIM/268220

altLabel

RHABDOMYOSARCOMA, ALVEOLAR

RMSA

RMS2

cui

C0206655

Gene Locus

2q36.1

Gene Symbol

PAX3

CDHS

WS3

WS1

HUP2

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU061595

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

268220

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

RHABDOMYOSARCOMA 2

Scope Statement

Caused by fusion of the FKHR gene (136533) with the PAX3 gene (606597) or the PAX7 gene (167410) [MOLECULAR BASIS]

tui

T191

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