{
  "id": 15432,
  "label": "Bardet-Biedl syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014432",
  "properties": {
    "xrefs": [
      "DOID:0110124",
      "GARD:0000821",
      "MEDGEN:422453",
      "MESH:C537910",
      "OMIM:615981",
      "UMLS:C2936863"
    ],
    "synonyms": [
      "BBS2",
      "BBS2 Bardet-Biedl syndrome",
      "Bardet-Biedl syndrome 2",
      "Bardet-Biedl syndrome caused by mutation in BBS2",
      "Bardet-Biedl syndrome type 2",
      "BBS",
      "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 BBS2 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": 29278,
      "label": "BBS2-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027250"
        ],
        "synonyms": [
          "BBS2-related ciliopathy"
        ],
        "definition": "Any ciliopathy caused by variants in the BBS2 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1040048"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16120,
      "label": "Bardet-Biedl syndrome"
    },
    {
      "id": 29278,
      "label": "BBS2-related ciliopathy"
    }
  ]
}