{
  "id": 17173,
  "label": "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016713",
  "properties": {
    "xrefs": [
      "GARD:0020718",
      "MEDGEN:1389430",
      "MedDRA:10057846",
      "NCIT:C129537",
      "Orphanet:251870",
      "UMLS:C4329632"
    ],
    "synonyms": [
      "central nervous system PNET",
      "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor",
      "CNS PNET",
      "central nervous system primitive neuroectodermal tumor",
      "central nervous system primitive neuroectodermal tumour"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4753,
      "label": "central nervous system cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7479,
        7694
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3620",
          "EFO:0000326",
          "GARD:0027614",
          "ICD9:239.7",
          "MEDGEN:87593",
          "MESH:D016543",
          "NANDO:2100007",
          "NCIT:C4627",
          "SCTID:126951006",
          "UMLS:C0348374"
        ],
        "synonyms": [
          "CNS neoplasm",
          "central nervous system tumor",
          "central nervous system tumour",
          "CNS cancer",
          "CNS malignant neoplasms",
          "CNS neoplasms, malignant",
          "cancer of CNS",
          "cancer of central nervous system",
          "cancer of the CNS",
          "cancer of the central nervous system",
          "central nervous system cancer",
          "central nervous system neoplasms, malignant",
          "central nervous system tumours",
          "malignant CNS neoplasm",
          "malignant CNS neoplasms",
          "malignant CNS tumor",
          "malignant CNS tumour",
          "malignant central nervous system neoplasm",
          "malignant central nervous system tumor",
          "malignant central nervous system tumour",
          "malignant neoplasm of CNS",
          "malignant neoplasm of central nervous system",
          "malignant neoplasm of the CNS",
          "malignant neoplasm of the central nervous system",
          "malignant tumor of CNS",
          "malignant tumor of central nervous system",
          "malignant tumor of the CNS",
          "malignant tumor of the central nervous system",
          "malignant tumour of CNS",
          "malignant tumour of central nervous system",
          "malignant tumour of the CNS",
          "malignant tumour of the central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A malignant neoplasm involving the central nervous system"
      },
      "child_count": 40,
      "reference_id": "MONDO:0002714"
    },
    {
      "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": 5118,
      "label": "medulloepithelioma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17173
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4790",
          "GARD:0020721",
          "MEDGEN:1702218",
          "NCIT:C4327",
          "ONCOTREE:MDEP",
          "Orphanet:251883",
          "SCTID:715903004",
          "UMLS:C5231013",
          "icd11.foundation:1078680756"
        ],
        "synonyms": [
          "central nervous system medulloepithelioma",
          "medulloepithelioma NOS (morphologic abnormality)",
          "medulloepithelioma of the central nervous system",
          "medulloepithelioma, central nervous system",
          "MDEP"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003144"
    },
    {
      "id": 16667,
      "label": "esthesioneuroblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17173
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002197",
          "MEDGEN:60217",
          "Orphanet:1957",
          "SCTID:422886007",
          "UMLS:C0206717"
        ],
        "synonyms": [
          "olfactory neuroblastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016029"
    },
    {
      "id": 17174,
      "label": "ependymoblastoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3043,
        17173
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080903",
          "DOID:4794",
          "GARD:0020720",
          "MEDGEN:152150",
          "MedDRA:10014966",
          "NCIT:C4915",
          "ONCOTREE:ETANTR",
          "Orphanet:251880",
          "SCTID:715901002",
          "UMLS:C0700367"
        ],
        "synonyms": [
          "ETMR, C19MC-altered",
          "embryonal tumor with Multilayered Rosettes",
          "embryonal tumor with Multilayered Rosettes with C19MC amplification",
          "embryonal tumor with Multilayered Rosettes, C19MC-altered",
          "embryonal tumor with abundant neuropil and true Rosettes",
          "embryonal tumour with Multilayered Rosettes",
          "embryonal tumour with Multilayered Rosettes with C19MC amplification",
          "embryonal tumour with Multilayered Rosettes, C19MC-altered",
          "embryonal tumour with abundant neuropil and true Rosettes",
          "ependymoblastoma",
          "ETANTR",
          "ETMR",
          "embryonal tumor with abundant neuropil and true rosettes",
          "embryonal tumour with abundant neuropil and true rosettes",
          "neuroectodermal tumors primitive",
          "neuroectodermal tumours primitive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016715"
    },
    {
      "id": 25830,
      "label": "embryonal tumor with multilayered rosettes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17173
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006352",
          "MEDGEN:1804732",
          "NCIT:C186534",
          "Orphanet:656417",
          "UMLS:C5575350"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0958119"
    }
  ],
  "roots": [
    {
      "id": 4753,
      "label": "central nervous system cancer"
    },
    {
      "id": 20283,
      "label": "Ewing sarcoma/peripheral primitive neuroectodermal tumor"
    }
  ]
}