{
  "id": 24663,
  "label": "BRCA1-related cancer predisposition",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700268",
  "properties": {
    "xrefs": [
      "GARD:0026408"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 14707,
      "label": "pancreatic cancer, susceptibility to, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24663
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027851",
          "MEDGEN:482072",
          "OMIM:614320",
          "UMLS:C3280442"
        ],
        "synonyms": [
          "BRCA1 familial pancreatic carcinoma",
          "familial pancreatic carcinoma caused by mutation in BRCA1",
          "pancreatic cancer, susceptibility to, 4",
          "pancreatic cancer, susceptibility to, type 4",
          "PNCA4",
          "susceptibility to pancreatic cancer 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013685"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    }
  ]
}