{
  "id": 14232,
  "label": "Lynch syndrome 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013196",
  "properties": {
    "xrefs": [
      "DOID:0070270",
      "GARD:0015638",
      "MEDGEN:412966",
      "MESH:C567685",
      "OMIM:613244",
      "UMLS:C2750471"
    ],
    "synonyms": [
      "EPCAM hereditary nonpolyposis colon cancer",
      "colorectal cancer, hereditary nonpolyposis, type 8",
      "hereditary nonpolyposis colon cancer caused by mutation in EPCAM",
      "HNPCC8"
    ],
    "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  heterozygous deletion of 3-prime exons of the EPCAM gene and intergenic regions directly upstream of the MSH2 gene, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7449,
      "label": "Lynch syndrome"
    }
  ]
}