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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:desmoplastic small round cell tumor
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Accession:DOID:6785 term browser browse the term
Definition:A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. (DO)
Synonyms:exact_synonym: desmoplastic small cell tumor;   desmoplastic small round-cell neoplasm;   desmoplastic small-cell tumors
 primary_id: MESH:D058405
 xref: GARD:6265;   NCI:C8300
For additional species annotation, visit the Alliance of Genome Resources.


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desmoplastic small round cell tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf17 TNF receptor superfamily member 17 ISO ClinVar Annotator: match by term: Desmoplastic small round cell tumor ClinVar PMID:26822237 NCBI chr10:4,252,097...4,258,335
Ensembl chr10:4,251,941...4,257,868
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Term Annotations click to browse term
  disease 17150
    disease of cellular proliferation 6946
      cancer 4896
        cell type cancer 3395
          sarcoma 243
            desmoplastic small round cell tumor 1
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