{
  "id": 16983,
  "label": "familial rhabdoid tumor",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016473",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4765,
      "label": "rhabdoid tumor",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7212,
        18239
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3672",
          "EFO:0005701",
          "GARD:0007572",
          "ICDO:8963/3",
          "MEDGEN:64646",
          "MESH:D018335",
          "NANDO:2200057",
          "NCIT:C3808",
          "ONCOTREE:MRT",
          "Orphanet:69077",
          "UMLS:C0206743"
        ],
        "synonyms": [
          "malignant rhabdoid tumor",
          "rhabdoid sarcoma",
          "rhabdoid tumor",
          "rhabdoid cancer"
        ],
        "definition": "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor."
      },
      "child_count": 10,
      "reference_id": "MONDO:0002728"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    }
  ],
  "children": [
    {
      "id": 13311,
      "label": "rhabdoid tumor predisposition syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16983
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012252"
    },
    {
      "id": 14260,
      "label": "rhabdoid tumor predisposition syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16983,
        20002,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013224"
    }
  ],
  "roots": [
    {
      "id": 4765,
      "label": "rhabdoid tumor"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    }
  ]
}