{
  "id": 25172,
  "label": "medulloblastoma SHH activated",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0850197",
  "properties": {
    "xrefs": [
      "DOID:0080703",
      "GARD:0026590",
      "MEDGEN:1375478",
      "NCIT:C129441",
      "UMLS:C4330671"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 9288,
      "label": "medulloblastoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4920,
        7212
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050902",
          "DOID:0060104",
          "EFO:0002939",
          "GARD:0007005",
          "ICDO:9470/3",
          "MEDGEN:7517",
          "MESH:D008527",
          "MedDRA:10027107",
          "NANDO:2200090",
          "NCIT:C3222",
          "NORD:1422",
          "OMIM:155255",
          "ONCOTREE:MBL",
          "Orphanet:616",
          "SCTID:443333004",
          "UMLS:C0025149",
          "icd11.foundation:290815825"
        ],
        "synonyms": [
          "cerebellum embryonal neoplasm",
          "medulloblastoma",
          "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation",
          "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation",
          "medulloblastoma, malignant",
          "medulloblastoma, somatic",
          "medulloblastomas",
          "CNS PNET",
          "CPNET",
          "MDB",
          "infratentorial primitive neuroectodermal tumor",
          "infratentorial primitive neuroectodermal tumour",
          "localised primitive neuroectodermal tumour",
          "localized primitive neuroectodermal tumor",
          "medulloblastoma with extensive nodularity",
          "medulloblastoma, desmoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity."
      },
      "child_count": 28,
      "reference_id": "MONDO:0007959"
    }
  ],
  "children": [
    {
      "id": 25564,
      "label": "medulloblastoma SHH activated and TP53 mutant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25172
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080704",
          "GARD:0026768",
          "NCIT:C129442"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0956964"
    },
    {
      "id": 25565,
      "label": "medulloblastoma SHH activated and TP53 wild-type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25172
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080705",
          "GARD:0026769",
          "NCIT:C129443"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0956965"
    }
  ],
  "roots": [
    {
      "id": 9288,
      "label": "medulloblastoma"
    }
  ]
}