{
  "id": 18627,
  "label": "hereditary nonpolyposis colon cancer",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018630",
  "properties": {
    "xrefs": [
      "GARD:0025132",
      "MEDGEN:232602",
      "NCIT:C120083",
      "OMIMPS:120435",
      "Orphanet:443909",
      "SCTID:315058005",
      "UMLS:C1333990",
      "icd11.foundation:8113015"
    ],
    "synonyms": [
      "HNPCC",
      "Hereditary nonpolyposis colorectal cancer (HNPCC)",
      "colorectal cancer, hereditary nonpolyposis",
      "familial nonpolyposis colon cancer",
      "familial nonpolyposis colorectal cancer",
      "hereditary nonpolyposis colon cancer",
      "hereditary nonpolyposis colorectal cancer"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "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": [
    {
      "id": 7449,
      "label": "Lynch syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3883",
          "MEDGEN:1633554",
          "MedDRA:10051981",
          "NCIT:C8494",
          "NORD:1386",
          "Orphanet:144",
          "SCTID:716318002",
          "UMLS:C4552100"
        ],
        "synonyms": [
          "Hereditary colorectal endometrial cancer syndrome",
          "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)",
          "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)",
          "Lynch syndrome",
          "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)",
          "hereditary defective mismatch repair syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present."
      },
      "child_count": 10,
      "reference_id": "MONDO:0005835"
    },
    {
      "id": 9344,
      "label": "Muir-Torre syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050465",
          "GARD:0006821",
          "MEDGEN:231157",
          "MESH:D055653",
          "MedDRA:10063042",
          "NCIT:C84905",
          "OMIM:158320",
          "Orphanet:587",
          "SCTID:403824007",
          "UMLS:C1321489",
          "icd11.foundation:229304403"
        ],
        "synonyms": [
          "Muir-Torre syndrome",
          "multiple keratoacanthoma, Muir-Torre type",
          "MRTES",
          "MUIR-Torre syndrome",
          "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas",
          "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008018"
    },
    {
      "id": 14717,
      "label": "colorectal cancer, hereditary nonpolyposis, type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070273",
          "GARD:0015789",
          "MEDGEN:348732",
          "MESH:C566039",
          "OMIM:614331",
          "UMLS:C1860896"
        ],
        "synonyms": [
          "TGFBR2 hereditary nonpolyposis colon cancer",
          "colorectal cancer, hereditary nonpolyposis, type 6",
          "hereditary nonpolyposis colon cancer caused by mutation in TGFBR2",
          "HNPCC6",
          "colon cancer, hereditary nonpolyposis, type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013695"
    },
    {
      "id": 14746,
      "label": "colorectal cancer, hereditary nonpolyposis, type 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070276",
          "GARD:0015799",
          "MEDGEN:346893",
          "MESH:C565777",
          "OMIM:614385",
          "UMLS:C1858380"
        ],
        "synonyms": [
          "MLH3 hereditary nonpolyposis colon cancer",
          "colorectal cancer, hereditary nonpolyposis, type 7",
          "hereditary nonpolyposis colon cancer caused by mutation in MLH3",
          "HNPCC7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013725"
    },
    {
      "id": 18606,
      "label": "familial colorectal cancer type X",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021840",
          "MEDGEN:856172",
          "NCIT:C120084",
          "Orphanet:440437",
          "UMLS:C3896578"
        ],
        "synonyms": [
          "FCCTX",
          "familial colorectal cancer type X"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018604"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 21140,
      "label": "familial colorectal cancer"
    }
  ]
}