{
  "id": 24079,
  "label": "POLD1-related polyposis and colorectal cancer syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100351",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2742,
      "label": "polyposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20316
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:137722",
          "NANDO:2100257",
          "NCIT:C4089",
          "UMLS:C0334108"
        ],
        "synonyms": [
          "multiple polyps",
          "polyposis"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0000147"
    },
    {
      "id": 18645,
      "label": "Polymerase proofreading-related adenomatous polyposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0018653"
    },
    {
      "id": 20546,
      "label": "polyp of large intestine",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6807,
        21545
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:182694",
          "NCIT:C5679",
          "SCTID:399505005",
          "UMLS:C0949059",
          "icd11.foundation:537826614"
        ],
        "synonyms": [
          "colorectal polyp",
          "large bowel polyp",
          "large intestine polyp",
          "polyp of large bowel",
          "polyp of the large bowel",
          "polyp of the large intestine"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A polyp that involves the large intestine."
      },
      "child_count": 12,
      "reference_id": "MONDO:0021392"
    },
    {
      "id": 21140,
      "label": "familial colorectal cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008533"
        ],
        "synonyms": [
          "hereditary colorectal cancer",
          "colorectal cancer, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories."
      },
      "child_count": 8,
      "reference_id": "MONDO:0023113"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2742,
      "label": "polyposis"
    },
    {
      "id": 18645,
      "label": "Polymerase proofreading-related adenomatous polyposis"
    },
    {
      "id": 20546,
      "label": "polyp of large intestine"
    },
    {
      "id": 21140,
      "label": "familial colorectal cancer"
    }
  ]
}