{
  "id": 15446,
  "label": "Bardet-Biedl syndrome 18",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014446",
  "properties": {
    "xrefs": [
      "DOID:0110140",
      "GARD:0016042",
      "MEDGEN:812504",
      "OMIM:615995",
      "UMLS:C3806174"
    ],
    "synonyms": [
      "BBIP1 Bardet-Biedl syndrome",
      "BBS18",
      "Bardet-Biedl syndrome 18",
      "Bardet-Biedl syndrome caused by mutation in BBIP1",
      "Bardet-Biedl syndrome type 18"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16120,
      "label": "Bardet-Biedl syndrome"
    }
  ]
}