{ "id": 20297, "label": "bone sarcoma", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0021054", "properties": { "xrefs": [ "DOID:0080639", "GARD:0020547", "ICD9:170.9", "MEDGEN:352831", "MedDRA:10006007", "NCIT:C9312", "Orphanet:223727", "SCTID:448710000", "UMLS:C1704327" ], "synonyms": [ "bone sarcoma", "osseous sarcoma", "sarcoma of bone", "sarcoma of the bone", "skeletal sarcoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." }, "isLeaf": false, "isRoot": false, "child_count": 13, "parents": [ { "id": 4262, "label": "bone cancer", "isLeaf": false, "isRoot": false, "parents": [ 3041, 18958 ], "type_id": 0, "properties": { "xrefs": [ "CSP:2019-1041", "DOID:184", "EFO:1000350", "GARD:0023070", "ICD9:170.9", "MEDGEN:79002", "MESH:D001859", "NCIT:C4016", "SCTID:428281000", "UMLS:C0279530" ], "synonyms": [ "bone neoplasm", "bone tumor", "bone tumour", "osseous tumor", "osseous tumour", "bone cancer", "cancer of bone", "cancer of skeletal element", "cancer of the bone", "malignant bone neoplasm", "malignant bone tumor", "malignant neoplasm of bone", "malignant neoplasm of skeletal element", "malignant neoplasm of the bone", "malignant osseous neoplasm", "malignant osseous tumor", "malignant osseous tumour", "malignant skeletal element neoplasm", "malignant tumor of bone", "malignant tumor of the bone", "malignant tumour of bone", "malignant tumour of the bone", "osseous cancer", "skeletal element cancer" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." }, "child_count": 24, "reference_id": "MONDO:0002129" }, { "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" } ], "children": [ { "id": 4275, "label": "undifferentiated pleomorphic sarcoma", "isLeaf": false, "isRoot": false, "parents": [ 7165, 18239, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1907", "EFO:1001972", "GARD:0006963", "HGNC:16982", "ICD9:171.9", "ICDO:8830/3", "MEDGEN:87248", "MESH:D051677", "MedDRA:10025552", "NCIT:C114541", "NCIT:C4247", "ONCOTREE:MFH", "Orphanet:2023", "SCTID:443439001", "UMLS:C0334463" ], "synonyms": [ "MFH", "Storiform-pleomorphic MFH", "Storiform-pleomorphic fibrous histiocytoma", "Storiform-pleomorphic malignant fibrous histiocytoma", "UPS", "Unclassified Pleomorphic sarcoma (formerly \"MFH\")", "Unclassified Pleomorphic sarcoma (formerly \"malignant fibrous histiocytoma\")", "adult malignant fibrous histiocytoma", "adult unclassified pleomorphic sarcoma", "adult undifferentiated pleomorphic sarcoma", "fibrous histiocytoma, malignant", "fibrous histiocytoma, malignant (morphologic abnormality)", "fibroxanthosarcoma", "fibroxanthosarcoma (morphologic abnormality)", "histiocytoma, fibrous, malignant", "malignant fibrous cytoma", "malignant fibrous histiocytoma", "malignant fibrous histiocytoma of soft tissue and bone", "malignant fibrous histiocytoma of the soft tissue and bone", "malignant fibroxanthoma", "unclassified pleomorphic sarcoma", "undifferentiated pleomorphic sarcoma", "undifferentiated pleomorphic soft tissue sarcoma", "malignant fibrohistiocytic tumors", "malignant fibrohistiocytic tumours", "undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." }, "child_count": 9, "reference_id": "MONDO:0002142" }, { "id": 4668, "label": "bone angiosarcoma", "isLeaf": true, "isRoot": false, "parents": [ 17394, 20297, 21452 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3351", "GARD:0023189", "MEDGEN:231448", "NCIT:C6479", "UMLS:C1332574" ], "synonyms": [ "angiosarcoma (disease) of bone tissue", "bone Hemangioendothelial sarcoma", "bone angioendothelial sarcoma", "bone angiosarcoma", "bone hemangiosarcoma", "bone tissue angiosarcoma (disease)", "osseous angioendothelial sarcoma", "osseous angiosarcoma", "osseous hemangiosarcoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation." }, "child_count": 0, "reference_id": "MONDO:0002617" }, { "id": 4669, "label": "undifferentiated high grade pleomorphic sarcoma of bone", "isLeaf": true, "isRoot": false, "parents": [ 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3352", "GARD:0023190", "MEDGEN:149264", "NCIT:C8563", "UMLS:C0740479" ], "synonyms": [ "malignant bone fibrous histiocytoma", "malignant fibrous histiocytoma of bone", "malignant fibrous histiocytoma of the bone", "undifferentiated high grade pleomorphic sarcoma", "undifferentiated high grade pleomorphic sarcoma of bone", "undifferentiated high-grade pleomorphic sarcoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs." }, "child_count": 0, "reference_id": "MONDO:0002618" }, { "id": 4670, "label": "bone fibrosarcoma", "isLeaf": true, "isRoot": false, "parents": [ 6886, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3354", "GARD:0023191", "MEDGEN:404782", "NCIT:C6604", "UMLS:C2733623" ], "synonyms": [ "bone fibrosarcoma", "bone tissue fibrosarcoma (disease)", "fibrosarcoma of bone", "fibrosarcoma of the bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." }, "child_count": 0, "reference_id": "MONDO:0002619" }, { "id": 4675, "label": "bone leiomyosarcoma", "isLeaf": true, "isRoot": false, "parents": [ 6788, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3367", "GARD:0023193", "MEDGEN:234043", "NCIT:C7154", "UMLS:C1332579" ], "synonyms": [ "bone leiomyosarcoma", "bone tissue leiomyosarcoma", "leiomyosarcoma of bone", "leiomyosarcoma of bone tissue" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells." }, "child_count": 0, "reference_id": "MONDO:0002624" }, { "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": 4680, "label": "bone osteosarcoma", "isLeaf": false, "isRoot": false, "parents": [ 11016, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3376", "GARD:0007284", "ICD9:170.9", "MEDGEN:108437", "MedDRA:10031291", "NCIT:C53707", "OMIM:259500", "Orphanet:668", "SCTID:307576001", "UMLS:C0585442" ], "synonyms": [ "bone osteosarcoma", "osteosarcoma of bone", "osteosarcoma, somatic", "osteosarcoma, somatic mutation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." }, "child_count": 10, "reference_id": "MONDO:0002629" }, { "id": 4685, "label": "liposarcoma of bone", "isLeaf": true, "isRoot": false, "parents": [ 6790, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3381", "GARD:0023200", "MEDGEN:231450", "NCIT:C7598", "UMLS:C1332581" ], "synonyms": [ "bone liposarcoma", "bone tissue liposarcoma", "liposarcoma of bone", "liposarcoma of bone tissue", "liposarcoma of the bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A very rare malignant adipose tissue neoplasm that arises from the bone." }, "child_count": 0, "reference_id": "MONDO:0002634" }, { "id": 5565, "label": "periosteal chondrosarcoma", "isLeaf": true, "isRoot": false, "parents": [ 2966, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5859", "DOID:5866", "GARD:0023614", "ICDO:9221/3", "MEDGEN:90806", "NCIT:C7357", "UMLS:C0334549" ], "synonyms": [ "chondrosarcoma (disease) of periosteum", "juxtacortical chondrosarcoma", "juxtacortical chondrosarcoma (morphologic abnormality)", "periosteal chondrosarcoma", "periosteum chondrosarcoma (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling." }, "child_count": 0, "reference_id": "MONDO:0003680" }, { "id": 5568, "label": "clear cell chondrosarcoma", "isLeaf": true, "isRoot": false, "parents": [ 2966, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5867", "GARD:0023617", "ICDO:9242/3", "MEDGEN:226848", "NCIT:C6475", "UMLS:C1266167" ], "synonyms": [ "clear cell chondrosarcoma", "clear cell chondrosarcoma (morphologic abnormality)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones." }, "child_count": 0, "reference_id": "MONDO:0003684" }, { "id": 6751, "label": "dedifferentiated chondrosarcoma", "isLeaf": true, "isRoot": false, "parents": [ 2966, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081247", "EFO:0000394", "GARD:0024142", "ICDO:9243/3", "MEDGEN:209021", "NCIT:C6476", "ONCOTREE:DDCHS", "UMLS:C0862878" ], "synonyms": [ "Dedifferentiated chondrosarcoma", "DDCHS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." }, "child_count": 0, "reference_id": "MONDO:0005013" }, { "id": 7308, "label": "bone giant cell tumor", "isLeaf": false, "isRoot": false, "parents": [ 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4305", "EFO:0007176", "GARD:0013046", "HP:0011847", "MEDGEN:64624", "MESH:D018212", "NCIT:C121932", "ONCOTREE:GCTB", "Orphanet:363976", "SCTID:697970009", "UMLS:C0206638" ], "synonyms": [ "GCT of bone", "Osteoclastoma, benign", "benign bone giant cell tumor", "benign bone giant cell tumour", "giant cell tumor of bone", "giant cell tumor of bone (morphologic abnormality)", "giant cell tumor of bone NOS (morphologic abnormality)", "giant cell tumor of the bone", "giant cell tumor, benign", "giant cell tumour of bone (morphologic abnormality)", "giant cell tumour of bone NOS (morphologic abnormality)", "giant cell tumour of the bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." }, "child_count": 1, "reference_id": "MONDO:0005674" }, { "id": 7830, "label": "malignancy in giant cell tumor of bone", "isLeaf": true, "isRoot": false, "parents": [ 4492, 20297 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4719", "EFO:1000347", "GARD:0024361", "ICDO:9250/3", "MEDGEN:87263", "NANDO:2200052", "NCIT:C4304", "UMLS:C0334552" ], "synonyms": [ "Dedifferentiated giant cell tumor", "Dedifferentiated giant cell tumour", "OSTEOCLASTOMA, malignant", "bone giant cell sarcoma", "giant cell bone sarcoma", "giant cell sarcoma of bone", "giant cell sarcoma of the bone", "giant cell tumor of bone, malignant", "giant cell tumor of bone, malignant (morphologic abnormality)", "giant cell tumour of bone, malignant", "giant cell tumour of bone, malignant (morphologic abnormality)", "malignancy in giant cell tumor of bone", "malignancy in giant cell tumor of the bone", "malignancy in giant cell tumour of the bone", "malignant giant cell tumor of bone", "malignant giant cell tumour of bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." }, "child_count": 0, "reference_id": "MONDO:0006287" } ], "roots": [ { "id": 4262, "label": "bone cancer" }, { "id": 6816, "label": "sarcoma" } ] }