{
  "id": 15442,
  "label": "Bardet-Biedl syndrome 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014442",
  "properties": {
    "xrefs": [
      "DOID:0110136",
      "GARD:0016038",
      "MEDGEN:393033",
      "MESH:C567141",
      "OMIM:615991",
      "UMLS:C2673874"
    ],
    "synonyms": [
      "BBS14",
      "Bardet-Biedl syndrome 14",
      "Bardet-Biedl syndrome 14, modifier of",
      "Bardet-Biedl syndrome type 14"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21."
  },
  "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": 24178,
      "label": "CEP290-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026225"
        ],
        "synonyms": [
          "CEP290 ciliopathy",
          "BBS14",
          "Bardet-Biedl syndrome 14",
          "Bardet-Biedl syndrome type 14",
          "CEP290 Joubert syndrome",
          "CEP290 Leber congenital amaurosis",
          "CEP290 Meckel syndrome",
          "CEP290 Senior-Loken syndrome",
          "JBTS5",
          "Joubert syndrome 5",
          "Joubert syndrome caused by mutation in CEP290",
          "Joubert syndrome type 5",
          "LCA10",
          "Leber congenital amaurosis 10",
          "Leber congenital amaurosis caused by mutation in CEP290",
          "Leber congenital amaurosis type 10",
          "MKS4",
          "Meckel syndrome 4",
          "Meckel syndrome caused by mutation in CEP290",
          "Meckel syndrome, type 4",
          "Meckel-Gruber syndrome, type 4",
          "Meckel-like Cerebrorenodigital syndrome",
          "SENIOR-Loken syndrome 6",
          "SLSN6",
          "Senior-Loken syndrome 6",
          "Senior-Loken syndrome caused by mutation in CEP290",
          "Senior-Loken syndrome type 6",
          "amaurosis congenita of Leber, type 10"
        ],
        "definition": "A ciliopathy caused by biallelic variants in the CEP290 gene."
      },
      "child_count": 5,
      "reference_id": "MONDO:0100451"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16120,
      "label": "Bardet-Biedl syndrome"
    },
    {
      "id": 24178,
      "label": "CEP290-related ciliopathy"
    }
  ]
}