{
  "id": 20299,
  "label": "familial adenomatous polyposis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021056",
  "properties": {
    "xrefs": [
      "DOID:0080409",
      "GARD:0025282",
      "MEDGEN:398651",
      "OMIM:175100",
      "UMLS:C2713442"
    ],
    "synonyms": [
      "adenomatous polyposis coli",
      "APC-related adenomatous polyposis",
      "FAP1",
      "adenoma, periampullary, somatic",
      "familial adenomatous polyposis 1",
      "Gardner syndrome",
      "adenomatous polyposis coli, attenuated",
      "adenomatous polyposis of the colon",
      "brain tumor-polyposis syndrome 2",
      "familial adenomatous polyposis, attenuated",
      "familial polyposis of the colon",
      "polyposis, adenomatous intestinal"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 17097,
      "label": "APC-related attenuated familial adenomatous polyposis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16895,
        20299
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017197",
          "Orphanet:247806"
        ],
        "synonyms": [
          "APC-related AFAP",
          "APC-related attenuated FAP",
          "APC-related attenuated familial adenomatous polyposis",
          "APC-related attenuated familial polyposis coli"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016613"
    }
  ],
  "roots": [
    {
      "id": 20300,
      "label": "classic or attenuated familial adenomatous polyposis"
    }
  ]
}