{
  "id": 18645,
  "label": "Polymerase proofreading-related adenomatous polyposis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018653",
  "properties": {
    "xrefs": [
      "GARD:0017772",
      "MEDGEN:1687472",
      "NCIT:C162484",
      "Orphanet:447877",
      "UMLS:C5202613"
    ],
    "synonyms": [
      "PPAP",
      "Polymerase proofreading-related adenomatous polyposis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 24024,
      "label": "POLE-related polyposis and colorectal cancer syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2742,
        18645,
        20546,
        21140
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026124"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100287"
    },
    {
      "id": 24079,
      "label": "POLD1-related polyposis and colorectal cancer syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2742,
        18645,
        20546,
        21140
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026151"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100351"
    }
  ],
  "roots": [
    {
      "id": 20300,
      "label": "classic or attenuated familial adenomatous polyposis"
    }
  ]
}