{
  "id": 14721,
  "label": "Lynch syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013699",
  "properties": {
    "xrefs": [
      "DOID:0070275",
      "GARD:0015791",
      "MEDGEN:325005",
      "MESH:C563971",
      "OMIM:614337",
      "UMLS:C1838333"
    ],
    "synonyms": [
      "PMS2 hereditary nonpolyposis colon cancer",
      "PMS2-related Lynch syndrome",
      "colorectal cancer, hereditary nonpolyposis, type 4",
      "hereditary nonpolyposis colon cancer caused by mutation in PMS2",
      "HNPCC4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers."
  },
  "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"
    }
  ]
}