{
  "id": 14260,
  "label": "rhabdoid tumor predisposition syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013224",
  "properties": {
    "xrefs": [
      "DOID:0060997",
      "GARD:0018319",
      "MEDGEN:413749",
      "MESH:C567643",
      "NCIT:C178394",
      "OMIM:613325",
      "UMLS:C2750074"
    ],
    "synonyms": [
      "SMARCA4 familial rhabdoid tumor",
      "SMARCA4 familial rhabdoid tumour",
      "familial rhabdoid tumor caused by mutation in SMARCA4",
      "familial rhabdoid tumour caused by mutation in SMARCA4",
      "rhabdoid tumor predisposition syndrome 2",
      "rhabdoid tumor predisposition syndrome type 2",
      "rhabdoid tumour predisposition syndrome type 2",
      "RTPS2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16983,
      "label": "familial rhabdoid tumor",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4765,
        16218
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070617",
          "GARD:0017159",
          "MEDGEN:457750",
          "NCIT:C93268",
          "OMIMPS:609322",
          "Orphanet:231108",
          "UMLS:C2985524"
        ],
        "synonyms": [
          "RTPS",
          "familial posterior fossa brain tumor syndrome of infancy",
          "familial posterior fossa brain tumour syndrome of infancy",
          "familial rhabdoid tumor",
          "hereditary rhabdoid tumor",
          "hereditary rhabdoid tumour",
          "rhabdoid predisposition syndrome",
          "rhabdoid tumor predisposition syndrome",
          "rhabdoid tumour predisposition syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016473"
    },
    {
      "id": 20002,
      "label": "atypical teratoid rhabdoid tumor",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4336,
        4765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2129",
          "EFO:1002008",
          "GARD:0016926",
          "ICDO:9508/3",
          "MEDGEN:226853",
          "NANDO:2200101",
          "NCIT:C6906",
          "ONCOTREE:ATRT",
          "Orphanet:99966",
          "UMLS:C1266184"
        ],
        "synonyms": [
          "AT/RT",
          "ATRT",
          "ATT/RHT",
          "CNS rhabdoid neoplasm",
          "CNS rhabdoid tumor",
          "CNS rhabdoid tumour",
          "atypical teratoid/rhabdoid tumor",
          "atypical teratoid/rhabdoid tumor (WHO grade IV)",
          "atypical teratoid/rhabdoid tumor (morphologic abnormality)",
          "atypical teratoid/rhabdoid tumour (WHO grade IV)",
          "atypical teratoid/rhabdoid tumour (morphologic abnormality)",
          "central nervous system rhabdoid neoplasm",
          "central nervous system rhabdoid tumor",
          "central nervous system rhabdoid tumour",
          "malignant brain rhabdoid neoplasm",
          "malignant brain rhabdoid tumor",
          "malignant brain rhabdoid tumour",
          "malignant rhabdoid neoplasm of brain",
          "malignant rhabdoid neoplasm of the brain",
          "malignant rhabdoid tumor of brain",
          "malignant rhabdoid tumor of the brain",
          "malignant rhabdoid tumour of brain",
          "malignant rhabdoid tumour of the brain",
          "primary malignant brain rhabdoid neoplasm",
          "primary malignant brain rhabdoid tumor",
          "primary malignant brain rhabdoid tumour",
          "primary malignant rhabdoid neoplasm of brain",
          "primary malignant rhabdoid neoplasm of the brain",
          "primary malignant rhabdoid tumor of brain",
          "primary malignant rhabdoid tumor of the brain",
          "primary malignant rhabdoid tumour of brain",
          "primary malignant rhabdoid tumour of the brain",
          "rhabdoid neoplasm of CNS",
          "rhabdoid neoplasm of central nervous system",
          "rhabdoid neoplasm of the CNS",
          "rhabdoid neoplasm of the central nervous system",
          "rhabdoid tumor of CNS",
          "rhabdoid tumor of central nervous system",
          "rhabdoid tumor of the CNS",
          "rhabdoid tumor of the central nervous system",
          "rhabdoid tumour of CNS",
          "rhabdoid tumour of central nervous system",
          "rhabdoid tumour of the central nervous system",
          "rhabdoid tumor predisposition syndrome",
          "rhabdoid tumour predisposition syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020560"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16983,
      "label": "familial rhabdoid tumor"
    },
    {
      "id": 20002,
      "label": "atypical teratoid rhabdoid tumor"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}