{
  "id": 13973,
  "label": "breast-ovarian cancer, familial, susceptibility to, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012933",
  "properties": {
    "xrefs": [
      "GARD:0027821",
      "MEDGEN:382625",
      "OMIM:612555",
      "UMLS:C2675520"
    ],
    "synonyms": [
      "BRCA2 hereditary breast ovarian cancer syndrome",
      "breast-ovarian cancer, familial, 2",
      "breast-ovarian cancer, familial, susceptibility to, 2",
      "breast-ovarian cancer, familial, susceptibility to, type 2",
      "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2",
      "BROVCA2",
      "breast cancer, familial, susceptibility to, 2",
      "ovarian cancer, familial, susceptibility to, 2",
      "susceptibility to familial breast-ovarian cancer 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5478,
      "label": "hereditary breast ovarian cancer syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16218
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5683",
          "GARD:0015010",
          "MEDGEN:151793",
          "MESH:D061325",
          "NCIT:C8493",
          "NORD:1936",
          "Orphanet:145",
          "SCTID:718220008",
          "UMLS:C0677776",
          "icd11.foundation:1258896144"
        ],
        "synonyms": [
          "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)",
          "Hereditary Breast and Ovarian Cancer Syndrome",
          "familial breast and ovarian cancer syndrome",
          "familial breast/ovarian cancer (BRCA1, BRCA2)",
          "hereditary breast and ovarian cancer",
          "hereditary breast and ovarian cancer syndrome",
          "hereditary breast ovarian cancer syndrome",
          "hereditary breast/ovarian cancer (BRCA1, BRCA2)",
          "HBOC syndrome",
          "HBOC syndromes",
          "hereditary breast ovarian cancer",
          "syndrome, HBOC",
          "syndromes, HBOC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer."
      },
      "child_count": 4,
      "reference_id": "MONDO:0003582"
    },
    {
      "id": 24251,
      "label": "breast-ovarian cancer, familial, susceptibility to",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20011
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIMPS:604370"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0100526"
    },
    {
      "id": 24664,
      "label": "BRCA2-related cancer predisposition",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026409"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700269"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5478,
      "label": "hereditary breast ovarian cancer syndrome"
    },
    {
      "id": 24251,
      "label": "breast-ovarian cancer, familial, susceptibility to"
    },
    {
      "id": 24664,
      "label": "BRCA2-related cancer predisposition"
    }
  ]
}