{
  "id": 23311,
  "label": "bardet-biedl syndrome 21",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044308",
  "properties": {
    "xrefs": [
      "DOID:0081010",
      "GARD:0016226",
      "MEDGEN:1374358",
      "OMIM:617406",
      "UMLS:C4319932"
    ],
    "synonyms": [
      "BBS21",
      "Bardet-Biedl syndrome 21"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)."
  },
  "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": 24747,
      "label": "CFAP418-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028029"
        ],
        "synonyms": [
          "CFAP418-related ciliopathy"
        ],
        "definition": "Any ciliopathy caused by variants in the CFAP418 gene, including cases diagnosed as Bardet-Biedl syndrome 21, cone-rod dystrophy 16, or retinitis pigmentosa 64."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700374"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16120,
      "label": "Bardet-Biedl syndrome"
    },
    {
      "id": 24747,
      "label": "CFAP418-related ciliopathy"
    }
  ]
}