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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:embryonal rhabdomyosarcoma
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Accession:DOID:3246 term browser browse the term
Definition:A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. (DO)
Synonyms:exact_synonym: Embryonal Rhabdomyosarcomas
 primary_id: MESH:D018233
 xref: GARD:4702;   NCI:C8971;   ORDO:99757
For additional species annotation, visit the Alliance of Genome Resources.


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embryonal rhabdomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal ClinVar PMID:26619011 PMID:26822237 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISS OMIM:268210 MouseDO NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of cellular proliferation 7036
      Neoplasms by Histologic Type 4767
        Glandular and Epithelial Neoplasms 3428
          carcinoma 2916
            embryonal carcinoma 19
              embryonal rhabdomyosarcoma 10
                botryoid rhabdomyosarcoma + 0
                embryonal extrahepatic bile duct rhabdomyosarcoma 0
                orbit embryonal rhabdomyosarcoma 0
                parameningeal embryonal rhabdomyosarcoma 0
                prostate embryonal rhabdomyosarcoma 0
                spindle cell rhabdomyosarcoma 0
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      muscle benign neoplasm 54
                        skeletal muscle neoplasm 40
                          skeletal muscle cancer 40
                            rhabdomyosarcoma 39
                              embryonal rhabdomyosarcoma 10
                                botryoid rhabdomyosarcoma + 0
                                embryonal extrahepatic bile duct rhabdomyosarcoma 0
                                orbit embryonal rhabdomyosarcoma 0
                                parameningeal embryonal rhabdomyosarcoma 0
                                prostate embryonal rhabdomyosarcoma 0
                                spindle cell rhabdomyosarcoma 0
paths to the root