rhabdomyosarcoma
MONDO:0005212Mondo
Findings
No curated finding names rhabdomyosarcoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.
Definition from the Mondo Disease Ontology (MONDO:0005212), read 2026-09-29. CC BY 4.0.
Genes
8 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BUB1BHGNC:1149
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- CDKN1CHGNC:1786
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- HRASHGNC:5173
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- MLH1HGNC:7127
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- MSH2HGNC:7325
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- MSH6HGNC:7329
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- NBNHGNC:7652
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- PMS2HGNC:9122
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (20)
- alveolar rhabdomyosarcoma
- breast rhabdomyosarcoma
- central nervous system rhabdomyosarcoma
- embryonal rhabdomyosarcoma
- gallbladder rhabdomyosarcoma
- liver rhabdomyosarcoma
- mediastinum rhabdomyosarcoma
- oral rhabdomyosarcoma
- orbit rhabdomyosarcoma
- ovary rhabdomyosarcoma
- pleomorphic rhabdomyosarcoma
- prostate rhabdomyosarcoma
- rectum rhabdomyosarcoma
- rhabdomyosarcoma of the cervix uteri
- rhabdomyosarcoma with mixed embryonal and alveolar features
- rhabdomyosarcoma, embryonal, 2
- spindle cell rhabdomyosarcoma
- testis rhabdomyosarcoma
- uterine corpus rhabdomyosarcoma
- vaginal rhabdomyosarcoma
Other names
2 names
Resolves to: rhabdomyosarcoma
- Also called
- rhabdomyosarcoma (disease)rhabdomyosarcoma, malignant