{
  "id": 16819,
  "label": "familial ovarian cancer",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016248",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 9481,
      "label": "ovarian cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3637,
        20309
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2394",
          "ICD10CM:C56",
          "ICD9:183.0",
          "MEDGEN:216027",
          "MESH:D010051",
          "NCIT:C7431",
          "OMIM:167000",
          "Orphanet:213500",
          "SCTID:363443007",
          "UMLS:C1140680",
          "icd11.foundation:685124533"
        ],
        "synonyms": [
          "ovarian neoplasm",
          "ovary neoplasm",
          "tumor of the ovary",
          "tumour of the ovary",
          "cancer of ovary",
          "cancer of the ovary",
          "malignant neoplasm of ovary",
          "malignant neoplasm of the ovary",
          "malignant ovarian neoplasm",
          "malignant ovarian tumor",
          "malignant ovarian tumour",
          "malignant ovary neoplasm",
          "malignant tumor of ovary",
          "malignant tumor of the ovary",
          "malignant tumour of ovary",
          "malignant tumour of the ovary",
          "ovarian cancer",
          "ovarian cancer, somatic",
          "ovarian malignant tumor",
          "ovarian malignant tumour",
          "ovary cancer",
          "ovarian cancer, epithelial",
          "primary ovarian cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
      },
      "child_count": 22,
      "reference_id": "MONDO:0008170"
    }
  ],
  "children": [
    {
      "id": 16820,
      "label": "hereditary site-specific ovarian cancer syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16819
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016249"
    },
    {
      "id": 24239,
      "label": "familial ovarian carcinoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6864,
        16819
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6901",
          "GARD:0026259",
          "MEDGEN:272713",
          "NCIT:C36102",
          "UMLS:C1333992"
        ],
        "synonyms": [
          "hereditary ovarian cancer",
          "familial ovarian carcinoma",
          "hereditary ovarian carcinoma",
          "familiar ovarian carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100514"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 9481,
      "label": "ovarian cancer"
    }
  ]
}