Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
Accession:DOID:6785 term browser browse the term
Definition:A small cell 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: EFO:1000895;   GARD:6265;   NCI:C8300
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      cancer 5483
        cell type cancer 3731
          sarcoma 285
            small cell sarcoma 4
              desmoplastic small round cell tumor 1
paths to the root