{
  "id": 4765,
  "label": "rhabdoid tumor",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002728",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "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"
    },
    {
      "id": 18239,
      "label": "soft tissue sarcoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6816,
        21548
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070663",
          "EFO:1001968",
          "GARD:0004898",
          "MEDGEN:1642116",
          "NCIT:C9306",
          "NORD:1953",
          "Orphanet:3394",
          "SCTID:424952003",
          "UMLS:C4551687"
        ],
        "synonyms": [
          "malignant soft tissue tumor",
          "malignant soft tissue tumour",
          "connective tissue sarcoma",
          "malignant mesenchymal tumor",
          "malignant mesenchymal tumour",
          "non-Rhabdo. soft tissue sarcoma",
          "sarcoma of soft tissue",
          "sarcoma of the soft tissue",
          "soft part sarcoma",
          "soft tissue sarcoma"
        ],
        "definition": "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones."
      },
      "child_count": 92,
      "reference_id": "MONDO:0018078"
    }
  ],
  "children": [
    {
      "id": 2981,
      "label": "striated muscle rhabdoid tumor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4765,
        5798,
        7472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050924",
          "GARD:0022795"
        ],
        "synonyms": [
          "striated muscle tissue rhabdoid tumor",
          "striated muscle tissue rhabdoid tumour"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rhabdoid tumor that involves the striated muscle tissue."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000539"
    },
    {
      "id": 4766,
      "label": "rhabdoid tumor of the kidney",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4765,
        4936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3674",
          "EFO:1000512",
          "GARD:0023224",
          "MEDGEN:208930",
          "NCIT:C8715",
          "UMLS:C0854917"
        ],
        "synonyms": [
          "MRTK",
          "kidney rhabdoid tumor",
          "kidney rhabdoid tumour",
          "malignant rhabdoid tumor of kidney",
          "malignant rhabdoid tumor of the kidney",
          "malignant rhabdoid tumour of kidney",
          "malignant rhabdoid tumour of the kidney",
          "renal rhabdoid neoplasm",
          "renal rhabdoid tumor",
          "renal rhabdoid tumour",
          "rhabdoid neoplasm of kidney",
          "rhabdoid neoplasm of the kidney",
          "rhabdoid tumor of kidney",
          "rhabdoid tumor of the kidney",
          "rhabdoid tumor of the kidney (RTK)",
          "rhabdoid tumour of kidney",
          "rhabdoid tumour of the kidney (RTK)",
          "kidney rhabdoid cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002729"
    },
    {
      "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": 23478,
      "label": "extrarenal rhabdoid tumor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4765,
        8005
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025921",
          "MEDGEN:224918",
          "NCIT:C6586",
          "SCTID:404089007",
          "UMLS:C1304517"
        ],
        "synonyms": [
          "extrarenal rhabdoid tumor",
          "malignant extrarenal rhabdoid neoplasm",
          "rhabdoid tumor of soft tissue",
          "rhabdoid tumour of soft tissue"
        ],
        "definition": "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044916"
    }
  ],
  "roots": [
    {
      "id": 7212,
      "label": "embryonal neoplasm"
    },
    {
      "id": 18239,
      "label": "soft tissue sarcoma"
    }
  ]
}