{
  "id": 15443,
  "label": "Bardet-Biedl syndrome 15",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014443",
  "properties": {
    "xrefs": [
      "DOID:0110137",
      "GARD:0016039",
      "MEDGEN:461477",
      "OMIM:615992",
      "UMLS:C3150127"
    ],
    "synonyms": [
      "BBS15",
      "Bardet-Biedl syndrome 15",
      "Bardet-Biedl syndrome caused by mutation in WDPCP",
      "Bardet-Biedl syndrome type 15",
      "WDPCP Bardet-Biedl syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16120,
      "label": "Bardet-Biedl syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7000,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1935",
          "GARD:0006866",
          "ICD9:759.89",
          "MEDGEN:156019",
          "MESH:D020788",
          "MedDRA:10056715",
          "NANDO:2200414",
          "NCIT:C118632",
          "NORD:838",
          "OMIMPS:209900",
          "Orphanet:110",
          "SCTID:5619004",
          "UMLS:C0752166",
          "icd11.foundation:255526264"
        ],
        "synonyms": [
          "BBS",
          "Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems"
      },
      "child_count": 66,
      "reference_id": "MONDO:0015229"
    },
    {
      "id": 24751,
      "label": "WDPCP-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028033"
        ],
        "synonyms": [
          "WDPCP-related ciliopathy"
        ],
        "definition": "Any ciliopathy caused by variants in the WDPCP gene, including cases diagnosed as Bardet-Biedl syndrome 15 or congenital heart defects, hamartomas of tongue, and polysyndactyly."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700378"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16120,
      "label": "Bardet-Biedl syndrome"
    },
    {
      "id": 24751,
      "label": "WDPCP-related ciliopathy"
    }
  ]
}