{ "id": 13857, "label": "Ewing sarcoma", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0012817", "properties": { "xrefs": [ "DOID:3369", "EFO:0000174", "GARD:0006390", "ICDO:9260/3", "MEDGEN:107816", "MESH:D012512", "MedDRA:10015560", "NANDO:2200053", "NCIT:C4817", "OMIM:612219", "ONCOTREE:ES", "Orphanet:319", "UMLS:C0553580", "icd11.foundation:458106328" ], "synonyms": [ "ES", "Ewing sarcoma", "Ewing's family localised tumour", "Ewing's sarcoma", "Ewing's tumor", "Ewing's tumour", "Ewing tumor", "Ewing tumour", "Ewing's sarcoma/peripheral primitive neuroectodermal tumour", "Ewings sarcoma-primitive neuroectodermal tumor", "Ewings sarcoma-primitive neuroectodermal tumour", "localised Ewing sarcoma", "localised Ewing's sarcoma", "localised Ewing's sarcoma/peripheral primitive neuroectodermal tumour", "localised Ewing's tumour", "localised peripheral primitive neuroectodermal tumour", "localized Ewing sarcoma", "localized Ewing's sarcoma", "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor", "localized Ewing's tumor", "localized peripheral primitive neuroectodermal tumor", "neuroepithelioma", "neuroepithelioma, peripheral", "peripheral primitive neuroectodermal tumour", "sarcoma, Ewing's" ], "definition": "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." }, "isLeaf": false, "isRoot": false, "child_count": 2, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 6816, "label": "sarcoma", "isLeaf": false, "isRoot": false, "parents": [ 6733 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1115", "EFO:0000691", "ICD9:171", "ICD9:171.0", "ICD9:171.2", "ICD9:171.3", "ICD9:171.4", "ICD9:171.5", "ICD9:171.6", "ICD9:171.7", "ICD9:171.8", "ICD9:171.9", "ICDO:8800/3", "MEDGEN:224714", "MESH:D012509", "NCIT:C9118", "SCTID:424413001", "UMLS:C1261473" ], "synonyms": [ "mesenchymal tumor, malignant", "sarcoma", "sarcoma of soft tissue and bone", "sarcoma of the soft tissue and bone", "sarcoma, malignant", "tumor of soft tissue and skeleton", "tumour of soft tissue and skeleton" ], "definition": "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma." }, "child_count": 22, "reference_id": "MONDO:0005089" }, { "id": 20283, "label": "Ewing sarcoma/peripheral primitive neuroectodermal tumor", "isLeaf": false, "isRoot": false, "parents": [ 7212 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:760735", "NCIT:C27291", "UMLS:C3536893" ], "synonyms": [ "EFTs", "Ewing family of tumors", "Ewing family of tumours", "Ewing sarcoma family of tumors", "Ewing sarcoma family of tumours", "Ewing sarcoma/peripheral PNET", "Ewing sarcoma/peripheral primitive neuroectodermal tumor", "Ewing's family of tumors", "Ewing's family of tumours", "Ewing's sarcoma/peripheral primitive neuroectodermal tumor", "Ewing's sarcoma/peripheral primitive neuroectodermal tumour", "tumors of Ewing's family", "tumors of the Ewing's family", "tumours of Ewing's family", "tumours of the Ewing's family" ], "definition": "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." }, "child_count": 5, "reference_id": "MONDO:0021038" } ], "children": [ { "id": 4676, "label": "Ewing sarcoma of bone", "isLeaf": true, "isRoot": false, "parents": [ 13857, 20297, 20361, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3368", "GARD:0023194", "ICD9:170.9", "MEDGEN:108438", "NCIT:C4835", "SCTID:307608006", "UMLS:C0585474" ], "synonyms": [ "Ewing sarcoma of bone", "Ewing's sarcoma of bone", "Ewing's sarcoma, osseous", "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumour", "bone Ewing's sarcoma", "bone localised Ewing sarcoma", "bone localised Ewing's sarcoma", "bone tissue Ewing sarcoma", "localised skeletal Ewing's sarcoma", "osseous Ewing's sarcoma", "osseous Ewing's tumor", "osseous Ewing's tumour", "skeletal Ewing's sarcoma", "skeletal Ewing's tumor", "skeletal Ewing's tumour" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor." }, "child_count": 0, "reference_id": "MONDO:0002625" }, { "id": 18389, "label": "extraskeletal Ewing sarcoma", "isLeaf": true, "isRoot": false, "parents": [ 13857, 18239, 20284 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4232", "GARD:0017600", "MEDGEN:76053", "NCIT:C7135", "Orphanet:370334", "UMLS:C0279980", "icd11.foundation:489162074" ], "synonyms": [ "EOE", "Extra-osseous Ewing's sarcoma", "extraosseous Ewing sarcoma", "extraosseous Ewing tumor", "extraosseous Ewing tumour", "extraosseous Ewing's sarcoma", "extraosseous Ewing's tumor", "extraosseous Ewing's tumour", "extraskeletal Ewing sarcoma", "extraskeletal Ewing tumor", "extraskeletal Ewing tumour", "extraskeletal Ewing's sarcoma", "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour" ], "definition": "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." }, "child_count": 0, "reference_id": "MONDO:0018270" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 6816, "label": "sarcoma" }, { "id": 20283, "label": "Ewing sarcoma/peripheral primitive neuroectodermal tumor" } ] }