{
  "id": 21140,
  "label": "familial colorectal cancer",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0023113",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 7221,
      "label": "colorectal cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7022,
        7430
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5672",
          "DOID:9256",
          "MEDGEN:83428",
          "NCIT:C4978",
          "OMIM:114500",
          "Orphanet:466667",
          "SCTID:363510005",
          "UMLS:C0346629"
        ],
        "synonyms": [
          "cancer of colorectum",
          "cancer of large bowel",
          "cancer of large intestine",
          "cancer of the large bowel",
          "colon cancer, advanced, somatic",
          "colon cancer, somatic",
          "colorectal cancer",
          "colorectal cancer with chromosomal instability, somatic",
          "colorectal cancer, autosomal dominant, somatic mutation",
          "colorectal cancer, somatic",
          "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
          "colorectum cancer",
          "malignant colorectal neoplasm",
          "malignant colorectal tumor",
          "malignant colorectal tumour",
          "malignant colorectum neoplasm",
          "malignant large bowel neoplasm",
          "malignant large bowel tumor",
          "malignant large bowel tumour",
          "malignant large intestine neoplasm",
          "malignant large intestine tumor",
          "malignant large intestine tumour",
          "malignant neoplasm of colorectum",
          "malignant neoplasm of large bowel",
          "malignant neoplasm of large intestine",
          "malignant neoplasm of the large bowel",
          "malignant neoplasm of the large intestine",
          "malignant tumor of large bowel",
          "malignant tumor of large intestine",
          "malignant tumor of the large bowel",
          "malignant tumor of the large intestine",
          "malignant tumour of large bowel",
          "malignant tumour of large intestine",
          "malignant tumour of the large bowel",
          "malignant tumour of the large intestine",
          "CRC",
          "colon cancer",
          "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
          "large intestine cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
      },
      "child_count": 10,
      "reference_id": "MONDO:0005575"
    }
  ],
  "children": [
    {
      "id": 7711,
      "label": "colon Burkitt lymphoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3028,
        4182,
        8648,
        21140
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024311",
          "MEDGEN:272491",
          "NCIT:C27465",
          "UMLS:C1333083"
        ],
        "synonyms": [
          "Burkitt lymphoma of colon",
          "Burkitts lymphoma of colon",
          "colon Burkitt lymphoma",
          "colon Burkitt's lymphoma",
          "colon Burkitts lymphoma",
          "primary colon Burkitt's lymphoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare Burkitt lymphoma that arises from the colon."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006150"
    },
    {
      "id": 18627,
      "label": "hereditary nonpolyposis colon cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218,
        21140
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018630"
    },
    {
      "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": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7221,
      "label": "colorectal cancer"
    }
  ]
}