{
  "id": 16820,
  "label": "hereditary site-specific ovarian cancer syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016249",
  "properties": {
    "xrefs": [
      "GARD:0020468",
      "Orphanet:213524",
      "icd11.foundation:123305976"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16819,
      "label": "familial ovarian cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        9481
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020467",
          "MEDGEN:1803368",
          "Orphanet:213517",
          "UMLS:C5679802",
          "icd11.foundation:1484739866"
        ],
        "synonyms": [
          "familial ovarian cancer",
          "familial ovarian malignant tumor",
          "familial ovarian malignant tumour",
          "hereditary ovarian cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016248"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16819,
      "label": "familial ovarian cancer"
    }
  ]
}