{
  "id": 9288,
  "label": "medulloblastoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007959",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "id": 4920,
      "label": "cerebellar neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4515,
        20429
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4205",
          "MEDGEN:40187",
          "MESH:D002528",
          "NCIT:C2935",
          "SCTID:126960003",
          "UMLS:C0007762"
        ],
        "synonyms": [
          "cerebellar neoplasm",
          "cerebellar tumor",
          "cerebellar tumour",
          "cerebellum neoplasm",
          "cerebellum neoplasm (disease)",
          "cerebellum tumor",
          "cerebellum tumour",
          "neoplasm of cerebellum",
          "neoplasm of the cerebellum",
          "tumor of cerebellum",
          "tumor of the cerebellum",
          "tumour of cerebellum",
          "tumour of the cerebellum",
          "malignant tumor of cerebellum",
          "malignant tumour of cerebellum",
          "cerebellum cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003"
      },
      "child_count": 16,
      "reference_id": "MONDO:0002913"
    },
    {
      "id": 7212,
      "label": "embryonal neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6798
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:688",
          "EFO:0005784",
          "MEDGEN:45034",
          "NCIT:C3264",
          "ONCOTREE:EMBT",
          "UMLS:C0027654"
        ],
        "synonyms": [
          "embryonal neoplasm",
          "embryonal tumor",
          "embryonal tumour",
          "EMBT",
          "embryonal cancer"
        ],
        "definition": "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003"
      },
      "child_count": 12,
      "reference_id": "MONDO:0005564"
    }
  ],
  "children": [
    {
      "id": 2968,
      "label": "brain stem medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288,
        20438
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050899",
          "GARD:0022786"
        ],
        "synonyms": [
          "brainstem medulloblastoma",
          "medulloblastoma of brainstem"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma that involves the brainstem."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000517"
    },
    {
      "id": 4819,
      "label": "large cell medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3857",
          "EFO:0008508",
          "GARD:0023247",
          "ICDO:9474/3",
          "MEDGEN:226852",
          "NCIT:C6904",
          "UMLS:C1266180"
        ],
        "synonyms": [
          "large cell medulloblastoma",
          "large cell medulloblastoma (morphologic abnormality)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002791"
    },
    {
      "id": 4820,
      "label": "cerebellar vermis medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3860",
          "GARD:0023248",
          "MEDGEN:232044",
          "NCIT:C5401",
          "UMLS:C1332903"
        ],
        "synonyms": [
          "cerebellar vermis medulloblastoma",
          "medulloblastoma of cerebellar vermis",
          "medulloblastoma of the cerebellar vermis",
          "vermis medulloblastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma arising from the vermis of the cerebellum."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002792"
    },
    {
      "id": 4821,
      "label": "adult medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5204,
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3864",
          "GARD:0023249",
          "MEDGEN:78898",
          "NANDO:2200090",
          "NCIT:C4011",
          "UMLS:C0278876"
        ],
        "synonyms": [
          "medulloblastoma",
          "adult brain medulloblastoma",
          "medulloblastoma of adults"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma arising from the brain, occurring in adults."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002794"
    },
    {
      "id": 4823,
      "label": "melanotic medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3868",
          "GARD:0023250",
          "MEDGEN:224818",
          "NCIT:C9497",
          "ONCOTREE:MMBL",
          "UMLS:C1275668"
        ],
        "synonyms": [
          "medulloblastoma with melanotic differentiation",
          "medulloblastoma, melanotic (morphologic abnormality)",
          "melanocytic medulloblastoma",
          "melanotic medulloblastoma",
          "MMBL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002796"
    },
    {
      "id": 4824,
      "label": "childhood medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5207,
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3869",
          "GARD:0009350",
          "MEDGEN:75829",
          "NANDO:2200090",
          "NCIT:C3997",
          "UMLS:C0278510"
        ],
        "synonyms": [
          "medulloblastoma",
          "childhood medulloblastoma",
          "medulloblastoma of childhood",
          "paediatric medulloblastoma",
          "pediatric medulloblastoma",
          "medulloblastoma, childhood"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma occurring in children."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002797"
    },
    {
      "id": 7839,
      "label": "medullomyoblastoma with myogenic differentiation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3861",
          "EFO:1000368",
          "GARD:0024366",
          "ICDO:9472/3",
          "MEDGEN:104731",
          "NCIT:C3706",
          "ONCOTREE:MMB",
          "UMLS:C0205833"
        ],
        "synonyms": [
          "medullomyoblastoma",
          "medullomyoblastoma with myogenic differentiation",
          "MMB"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006300"
    },
    {
      "id": 17169,
      "label": "anaplastic/large cell medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020717",
          "MEDGEN:1389864",
          "NCIT:C129436",
          "ONCOTREE:AMBL",
          "Orphanet:251855",
          "UMLS:C4330531"
        ],
        "synonyms": [
          "large cell/anaplastic medulloblastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016709"
    },
    {
      "id": 17170,
      "label": "medulloblastoma with extensive nodularity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3873",
          "GARD:0017214",
          "ICDO:9471/3",
          "MEDGEN:233759",
          "NCIT:C5407",
          "ONCOTREE:MBEN",
          "Orphanet:251858",
          "UMLS:C1334970"
        ],
        "synonyms": [
          "MBEN",
          "cerebellar neuroblastoma",
          "medulloblastoma with extensive nodularity",
          "medulloblastoma with extensive nodularity and advanced neuronal differentiation",
          "nodular medulloblastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016710"
    },
    {
      "id": 17171,
      "label": "desmoplastic/nodular medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017215",
          "ICDO:9471/3",
          "MEDGEN:148272",
          "NCIT:C4956",
          "ONCOTREE:DMBL",
          "Orphanet:251863",
          "UMLS:C0751291"
        ],
        "synonyms": [
          "Desmoplastic medulloblastoma",
          "desmoplastic medulloblastoma",
          "desmoplastic nodular medulloblastoma",
          "desmoplastic/nodular medulloblastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016711"
    },
    {
      "id": 17172,
      "label": "classic medulloblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017216",
          "MEDGEN:353541",
          "NCIT:C54039",
          "Orphanet:251867",
          "SCTID:699704002",
          "UMLS:C1707400",
          "icd11.foundation:1548011794"
        ],
        "synonyms": [
          "classic medulloblastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016712"
    },
    {
      "id": 25171,
      "label": "medulloblastoma WNT activated",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080702",
          "GARD:0026589",
          "MEDGEN:1392356",
          "NCIT:C129440",
          "UMLS:C4331965"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent."
      },
      "child_count": 0,
      "reference_id": "MONDO:0850196"
    },
    {
      "id": 25172,
      "label": "medulloblastoma SHH activated",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0850197"
    },
    {
      "id": 25173,
      "label": "medulloblastoma non-WNT/non-SHH",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080706",
          "GARD:0026591",
          "MEDGEN:1387799",
          "NCIT:C129444",
          "UMLS:C4330667"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent."
      },
      "child_count": 2,
      "reference_id": "MONDO:0850198"
    }
  ],
  "roots": [
    {
      "id": 4920,
      "label": "cerebellar neoplasm"
    },
    {
      "id": 7212,
      "label": "embryonal neoplasm"
    }
  ]
}