{
  "id": 13311,
  "label": "rhabdoid tumor predisposition syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012252",
  "properties": {
    "xrefs": [
      "DOID:0070618",
      "GARD:0018318",
      "MEDGEN:322892",
      "MESH:C563738",
      "NCIT:C178393",
      "OMIM:609322",
      "UMLS:C1836327"
    ],
    "synonyms": [
      "SMARCB1 familial rhabdoid tumor",
      "SMARCB1 familial rhabdoid tumour",
      "familial rhabdoid tumor caused by mutation in SMARCB1",
      "familial rhabdoid tumour caused by mutation in SMARCB1",
      "rhabdoid tumor predisposition syndrome 1",
      "rhabdoid tumor predisposition syndrome type 1",
      "rhabdoid tumors, somatic",
      "rhabdoid tumour predisposition syndrome type 1",
      "At/RT",
      "RTPS1",
      "brain tumor, posterior fossa, of infancy, familial",
      "malignant rhabdoid tumor, somatic",
      "teratoid tumor, atypical"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16983,
      "label": "familial rhabdoid tumor"
    }
  ]
}