{
  "id": 17285,
  "label": "familial adenomatous polyposis due to 5q22.2 microdeletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016860",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17323,
      "label": "partial deletion of the long arm of chromosome 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:262038",
          "icd11.foundation:285885131"
        ],
        "synonyms": [
          "partial deletion of chromosome 5q",
          "partial deletion of the long arm of chromosome type 5",
          "partial monosomy of chromosome 5q",
          "partial monosomy of the long arm of chromosome 5"
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016904"
    },
    {
      "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": 17323,
      "label": "partial deletion of the long arm of chromosome 5"
    },
    {
      "id": 20298,
      "label": "classic familial adenomatous polyposis"
    }
  ]
}