{
  "id": 19951,
  "label": "Turcot syndrome with polyposis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020497",
  "properties": {
    "xrefs": [
      "GARD:0016912",
      "NCIT:C40464",
      "Orphanet:99818",
      "icd11.foundation:813602368"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20298,
      "label": "classic familial adenomatous polyposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:49",
          "DOID:0050424",
          "GARD:0006408",
          "ICDO:8220/0",
          "MEDGEN:46010",
          "MedDRA:10056981",
          "NANDO:2200915",
          "NCIT:C3339",
          "NORD:1121",
          "OMIMPS:175100",
          "Orphanet:733",
          "SCTID:72900001",
          "UMLS:C0032580"
        ],
        "synonyms": [
          "FAP",
          "Familial Adenomatous Polyposis",
          "adenomatous polyposis coli",
          "classic FAP",
          "classic familial adenomatous polyposis",
          "colorectal adenomatous polyposis",
          "familial adenomatous polyposis",
          "familial adenomatous polyposis coli",
          "familial adenomatous polyposis syndrome",
          "familial polyposis",
          "familial polyposis coli",
          "hereditary adenomatous polyposis coli",
          "polyposis coli",
          "FPC",
          "familial adenomatous polyposis of the colon",
          "familial multiple polyposis",
          "hereditary polyposis coli"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life."
      },
      "child_count": 3,
      "reference_id": "MONDO:0021055"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20298,
      "label": "classic familial adenomatous polyposis"
    }
  ]
}