{ "id": 18390, "label": "peripheral primitive neuroectodermal tumor", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0018271", "properties": { "xrefs": [ "GARD:0017601", "ICDO:9364/3", "MEDGEN:151926", "NANDO:2200054", "NANDO:2200055", "NCIT:C9341", "Orphanet:370348", "UMLS:C0684337" ], "synonyms": [ "PPNET", "pPNET", "peripheral PNET", "peripheral neuroectodermal neoplasm", "peripheral neuroectodermal tumor", "peripheral neuroectodermal tumour", "peripheral neuroepithelioma", "peripheral primitive neuroectodermal neoplasm", "peripheral primitive neuroectodermal tumor" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A small round cell tumor with neural differentiation arising from the soft tissues or bone." }, "isLeaf": false, "isRoot": false, "child_count": 3, "parents": [ { "id": 7121, "label": "primitive neuroectodermal tumor", "isLeaf": false, "isRoot": false, "parents": [ 7212, 20418 ], "type_id": 0, "properties": { "xrefs": [ "DOID:171", "EFO:0005235", "ICDO:9473/3", "ICDO:9503/3", "MEDGEN:64627", "MESH:D017599", "NCIT:C3716", "ONCOTREE:PNET", "UMLS:C0206663" ], "synonyms": [ "PNET", "neuroectodermal neoplasm", "neuroectodermal tumor", "neuroectodermal tumour", "primitive neuroectodermal neoplasm", "primitive neuroectodermal tumor", "primitive neuroectodermal tumor (PNET)", "primitive neuroectodermal tumour (PNET)", "neuroepithelioma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors." }, "child_count": 10, "reference_id": "MONDO:0005462" }, { "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" }, { "id": 20329, "label": "peripheral nervous system cancer", "isLeaf": false, "isRoot": false, "parents": [ 3627, 7479 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:171.9", "MEDGEN:155556", "NCIT:C4961", "SCTID:254986007", "UMLS:C0751428" ], "synonyms": [ "cancer of peripheral nervous system", "malignant PNS neoplasm", "malignant PNS tumor", "malignant PNS tumour", "malignant neoplasm of PNS", "malignant neoplasm of peripheral nerve", "malignant neoplasm of peripheral nervous system", "malignant neoplasm of the PNS", "malignant neoplasm of the peripheral nerve", "malignant neoplasm of the peripheral nervous system", "malignant neoplasms, peripheral nerve", "malignant peripheral nerve neoplasm", "malignant peripheral nerve tumor", "malignant peripheral nerve tumour", "malignant peripheral nervous system neoplasm", "malignant peripheral nervous system tumor", "malignant peripheral nervous system tumour", "malignant tumor of PNS", "malignant tumor of peripheral nerve", "malignant tumor of peripheral nervous system", "malignant tumor of the PNS", "malignant tumor of the peripheral nerve", "malignant tumor of the peripheral nervous system", "malignant tumour of PNS", "malignant tumour of peripheral nerve", "malignant tumour of peripheral nervous system", "malignant tumour of the PNS", "malignant tumour of the peripheral nerve", "malignant tumour of the peripheral nervous system", "peripheral nervous system cancer", "peripheral nervous system neoplasms, malignant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location" }, "child_count": 36, "reference_id": "MONDO:0021089" } ], "children": [ { "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" }, { "id": 4985, "label": "peripheral primitive neuroectodermal tumor of soft tissues", "isLeaf": true, "isRoot": false, "parents": [ 18390, 20284 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4389", "GARD:0023313", "MEDGEN:205115", "NCIT:C27471", "UMLS:C1112437" ], "synonyms": [ "peripheral neuroectodermal tumor of soft tissues", "peripheral neuroectodermal tumor of the soft tissues", "peripheral neuroectodermal tumour of soft tissues", "peripheral neuroectodermal tumour of the soft tissues", "peripheral neuroepithelioma of soft tissues", "peripheral neuroepithelioma of the soft tissues", "peripheral primitive neuroectodermal tumor of soft tissues", "soft tissue peripheral neuroepithelioma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A small round cell tumor with neural differentiation arising from the soft tissues." }, "child_count": 0, "reference_id": "MONDO:0002982" }, { "id": 7668, "label": "Askin tumor", "isLeaf": true, "isRoot": false, "parents": [ 5215, 18390 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050608", "EFO:1000095", "GARD:0024291", "ICDO:9365/3", "MEDGEN:209112", "MESH:C563168", "NCIT:C7542", "UMLS:C0877849" ], "synonyms": [ "Askin tumor", "Askin's tumor", "PNET of thoracopulmonary region", "peripheral neuroectodermal tumor of thoracopulmonary region", "peripheral neuroectodermal tumour of thoracopulmonary region", "small cell tumor of thoracopulmonary region", "small cell tumour of thoracopulmonary region" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." }, "child_count": 0, "reference_id": "MONDO:0006094" } ], "roots": [ { "id": 7121, "label": "primitive neuroectodermal tumor" }, { "id": 20283, "label": "Ewing sarcoma/peripheral primitive neuroectodermal tumor" }, { "id": 20329, "label": "peripheral nervous system cancer" } ] }