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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:small cell sarcoma
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Accession:DOID:3098 term browser browse the term
Definition:A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)
Synonyms:exact_synonym: Small Cell Sarcomas
 primary_id: MESH:D018228;   RDO:0007124
 xref: NCI:C3746
For additional species annotation, visit the Alliance of Genome Resources.


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CIC-DUX SARCOMA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:21802064 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of cellular proliferation 6944
      cancer 4896
        cell type cancer 3391
          sarcoma 243
            small cell sarcoma 2
              CIC-DUX SARCOMA 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of cellular proliferation 6944
      Neoplasms by Site 6588
        organ system cancer 4728
          musculoskeletal system cancer 722
            connective tissue cancer 701
              small cell sarcoma 2
                CIC-DUX SARCOMA 2
paths to the root