{
  "id": 25032,
  "label": "Birt-Hogg-Dube syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800444",
  "properties": {
    "xrefs": [
      "GARD:0028061",
      "MEDGEN:91070",
      "OMIMPS:135150",
      "UMLS:C0346010"
    ],
    "synonyms": [
      "BHD"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "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": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 25033,
      "label": "Birt-Hogg-Dube syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25032
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050676",
          "GARD:0002322",
          "ICD9:704.8",
          "MESH:D058249",
          "MedDRA:10067736",
          "NCIT:C28244",
          "OMIM:135150",
          "Orphanet:122",
          "SCTID:110985001"
        ],
        "synonyms": [
          "Hornstein-Knickenberg syndrome",
          "fibrofolliculomas with trichodiscomas and acrochordons"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800445"
    },
    {
      "id": 25042,
      "label": "Birt-Hogg-Dube syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25032
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028062",
          "MEDGEN:1841312",
          "OMIM:620459",
          "UMLS:C5830676"
        ],
        "synonyms": [
          "BHD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Birt-Hogg-Dube syndrome caused by the mutations in PRDM10."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800455"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}