{ "id": 20361, "label": "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0021123", "properties": { "xrefs": [ "GARD:0025291", "MEDGEN:272598", "NCIT:C35871", "UMLS:C1333481" ], "synonyms": [ "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone", "Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone", "Ewing's sarcoma/peripheral primitive neuroectodermal tumour of bone", "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor", "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumour" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A spectrum of malignant tumors arising from the bone and 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. Pain and the presence of a mass are the most common clinical symptoms." }, "isLeaf": false, "isRoot": false, "child_count": 2, "parents": [ { "id": 18958, "label": "bone neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7061, 20678 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003820", "GARD:0018892", "ICD10CM:C40-C41", "MEDGEN:488993", "NCIT:C9343", "ONCOTREE:BONE", "Orphanet:68411", "UMLS:C2732838" ], "synonyms": [ "bone neoplasm", "bone neoplasms", "bone tissue neoplasm", "bone tissue tumor", "bone tissue tumour", "bone tumor", "bone tumors", "bone tumour", "bone tumours", "neoplasm of bone", "neoplasm of bone tissue", "neoplasm of the bone", "osseous neoplasm", "osseous tumor", "osseous tumour", "tumor of bone", "tumor of bone tissue", "tumor of the bone", "tumour of bone", "tumour of bone tissue", "tumour of the bone", "primary bone cancer", "primary malignant neoplasm of bone", "rare bone tumor", "rare bone tumour" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage." }, "child_count": 40, "reference_id": "MONDO:0019060" }, { "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": 4984, "label": "peripheral primitive neuroectodermal tumor of bone", "isLeaf": true, "isRoot": false, "parents": [ 4262, 18390, 20361 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4388", "GARD:0023312", "MEDGEN:163179", "NCIT:C8776", "UMLS:C0855009" ], "synonyms": [ "bone peripheral neuroepithelioma", "bone tissue peripheral primitive neuroectodermal tumor", "bone tissue peripheral primitive neuroectodermal tumour", "osseous peripheral neuroepithelioma", "peripheral neuroectodermal tumor of bone", "peripheral neuroectodermal tumor of the bone", "peripheral neuroectodermal tumour of bone", "peripheral neuroectodermal tumour of the bone", "peripheral neuroepithelioma of bone", "peripheral neuroepithelioma of the bone", "peripheral primitive neuroectodermal tumor of bone", "peripheral primitive neuroectodermal tumor of bone tissue", "peripheral primitive neuroectodermal tumour of bone tissue" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain." }, "child_count": 0, "reference_id": "MONDO:0002981" } ], "roots": [ { "id": 18958, "label": "bone neoplasm" }, { "id": 20283, "label": "Ewing sarcoma/peripheral primitive neuroectodermal tumor" } ] }