{"_id":"MONDO:0019373","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"50-18-0","chemical_name":"Cyclophosphamide","direct_evidence":"therapeutic","mesh_chemical_id":"D003520","pubmed":"10555010","source":"CTD"},{"cas_registry_number":"23214-92-8","chemical_name":"Doxorubicin","direct_evidence":"therapeutic","mesh_chemical_id":"D004317","pubmed":"10555010","source":"CTD"},{"cas_registry_number":"33419-42-0","chemical_name":"Etoposide","direct_evidence":"therapeutic","mesh_chemical_id":"D005047","pubmed":"10555010","source":"CTD"},{"cas_registry_number":"3778-73-2","chemical_name":"Ifosfamide","direct_evidence":"therapeutic","mesh_chemical_id":"D007069","pubmed":"10555010","source":"CTD"},{"chemical_name":"Vincristine","direct_evidence":"therapeutic","mesh_chemical_id":"D014750","pubmed":"10555010","source":"CTD"}],"mesh":"D058405"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:4","DOID:1115","DOID:3098","DOID:14566","DOID:0050687","DOID:162"],"children":[],"def":"\"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.\" [url:https\\://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor, url:https\\://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors]","descendants":[],"doid":"DOID:6785","name":"desmoplastic small round cell tumor","parents":["DOID:3098"],"synonyms":{"exact":["desmoplastic small round-cell neoplasm"]},"xrefs":{"gard":"6265","icdo":"8806/3","ncit":"C8300"}},"hpo":{"disease_name":"Desmoplastic small round cell tumor","orphanet":"83469","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001541","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001824","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001903","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002017","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002027","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002240","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002585","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002595","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002716","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002894","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003270","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004326","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010788","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100006","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100242","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100526","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100615","orphanet_refs":"orphanet:83469"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100721","orphanet_refs":"orphanet:83469"}]},"mondo":{"ancestors":["MONDO:0700096","MONDO:0018078","MONDO:0004992","MONDO:0000001","MONDO:0006424","MONDO:0005070","MONDO:7770008","MONDO:0045024","MONDO:0023370","MONDO:0044334","MONDO:0024637","MONDO:0005089","MONDO:0006974"],"definition":"Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. [Orphanet:83469]","label":"desmoplastic small round cell tumor","mondo":"MONDO:0019373","parents":["MONDO:0006974","MONDO:0018078"],"synonym":{"exact":["Desmoplas. small round cell tumor","Desmoplas. small round cell tumour","Desmoplastic small round cell tumor","desmoplastic small round cell tumor","Desmoplastic small round cell tumour","Desmoplastic small round-cell neoplasm","Desmoplastic small round-cell tumor","Desmoplastic small round-cell tumour","DSRCT","Polyphenotypic small round cell tumor","Polyphenotypic small round cell tumour"],"related":["desmoplastic small-round-cell tumor","desmoplastic small-round-cell tumour"]},"xrefs":{"doid":["DOID:6785"],"efo":["EFO:1000895"],"gard":["0006265"],"hgnc":["12796"],"icdo":["8806/3"],"meddra":["10064587","10064581"],"medgen":["83833"],"mesh":["D058405"],"nando":["2200059"],"ncit":["C8300"],"oncotree":["DSRCT"],"orphanet":["83469"],"umls":["C0281508"]}},"original_id":"orphanet:83469","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D058405","preferred":"D058405"},"nci":{"non-preferred":"C8300","preferred":"C8300"},"snomed":{"non-preferred":["1156420003","128735004"],"preferred":["1156420003","128735004"]},"umls":"C0281508"}}