{
  "id": 5478,
  "label": "hereditary breast ovarian cancer syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003582",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    }
  ],
  "children": [
    {
      "id": 12554,
      "label": "breast-ovarian cancer, familial, susceptibility to, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5478,
        24251,
        24663
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027801",
          "MEDGEN:382914",
          "OMIM:604370",
          "UMLS:C2676676"
        ],
        "synonyms": [
          "BRCA1 hereditary breast ovarian cancer syndrome",
          "breast-ovarian cancer, familial, 1, multifactorial",
          "breast-ovarian cancer, familial, susceptibility to, 1",
          "breast-ovarian cancer, familial, susceptibility to, type 1",
          "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1",
          "BROVCA1",
          "breast cancer, familial, susceptibility to, 1",
          "ovarian cancer, familial, susceptibility to, 1",
          "susceptibility to familial breast-ovarian cancer 1"
        ],
        "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 BRCA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011450"
    },
    {
      "id": 13973,
      "label": "breast-ovarian cancer, familial, susceptibility to, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5478,
        24251,
        24664
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012933"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    }
  ]
}