{
  "id": 7449,
  "label": "Lynch syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005835",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8749,
      "label": "Lynch syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070271",
          "GARD:0015052",
          "MEDGEN:423615",
          "MESH:C537261",
          "NCIT:C6725",
          "OMIM:120435",
          "UMLS:C2936783"
        ],
        "synonyms": [
          "HNPCC1",
          "Hereditary non-polyposis colon cancer type 1",
          "Lynch 1 syndrome",
          "Lynch syndrome 1",
          "Lynch syndrome type 1",
          "MSH2-related Lynch syndrome",
          "familial non-polyposis colon cancer type 1",
          "hereditary nonpolyposis colorectal cancer type 1",
          "COCA1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007356"
    },
    {
      "id": 13308,
      "label": "Lynch syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070274",
          "GARD:0015457",
          "MEDGEN:232603",
          "MESH:D055847",
          "NCIT:C6726",
          "OMIM:609310",
          "UMLS:C1333991"
        ],
        "synonyms": [
          "Hereditary non-polyposis colon cancer type 2",
          "Hereditary nonpolyposis colorectal cancer type 2",
          "Lynch 2 syndrome",
          "MLH1-related Lynch syndrome",
          "colorectal cancer, hereditary nonpolyposis, type 2",
          "familial non-polyposis colon cancer type 2",
          "COCA2",
          "HNPCC2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MLH1 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, often occurring at younger ages."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012249"
    },
    {
      "id": 14232,
      "label": "Lynch syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7449
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013196"
    },
    {
      "id": 14721,
      "label": "Lynch syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7449
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013699"
    },
    {
      "id": 14731,
      "label": "Lynch syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070272",
          "GARD:0015792",
          "MEDGEN:318886",
          "MESH:C563456",
          "OMIM:614350",
          "UMLS:C1833477"
        ],
        "synonyms": [
          "MSH6 hereditary nonpolyposis colon cancer",
          "MSH6-related Lynch Syndrome",
          "colorectal cancer, hereditary nonpolyposis, type 5",
          "hereditary nonpolyposis colon cancer caused by mutation in MSH6",
          "HNPCC5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH6 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, often occuring at younger ages."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013710"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18627,
      "label": "hereditary nonpolyposis colon cancer"
    }
  ]
}