{
  "id": 20298,
  "label": "classic familial adenomatous polyposis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021055",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 20300,
      "label": "classic or attenuated familial adenomatous polyposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025283"
        ],
        "synonyms": [
          "classic or attenuated FAP",
          "classic or attenuated familial adenomatous polyposis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP."
      },
      "child_count": 8,
      "reference_id": "MONDO:0021057"
    }
  ],
  "children": [
    {
      "id": 17285,
      "label": "familial adenomatous polyposis due to 5q22.2 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17323,
        20298
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020786",
          "MEDGEN:1788749",
          "Orphanet:261584",
          "UMLS:C5548205",
          "icd11.foundation:990238909"
        ],
        "synonyms": [
          "FAP due to monosomy 5q22.2",
          "colorectal adenomatous polyposis due to monosomy 5q22.2",
          "familial adenomatous polyposis due to del(5)(q22.2)",
          "familial adenomatous polyposis due to monosomy 5q22.2",
          "familial polyposis coli due to monosomy 5q22.2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016860"
    },
    {
      "id": 19176,
      "label": "Gardner syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        20298
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006482",
          "ICD9:759.89",
          "MEDGEN:6547",
          "MESH:D005736",
          "MedDRA:10017727",
          "NCIT:C6728",
          "Orphanet:79665",
          "SCTID:60876000",
          "UMLS:C0017097",
          "icd11.foundation:1428130769"
        ],
        "synonyms": [
          "Gardner syndrome",
          "Gardner's syndrome",
          "intestinal polyposis, osteomas, sebaceous cysts",
          "polyposis coli and multiple hard and soft tissue tumors",
          "polyposis coli and multiple hard and soft tissue tumours"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019336"
    },
    {
      "id": 19951,
      "label": "Turcot syndrome with polyposis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20298
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020497"
    }
  ],
  "roots": [
    {
      "id": 20300,
      "label": "classic or attenuated familial adenomatous polyposis"
    }
  ]
}