{
  "id": 15759,
  "label": "Joubert syndrome 25",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014770",
  "properties": {
    "xrefs": [
      "DOID:0110994",
      "GARD:0016159",
      "MEDGEN:895764",
      "OMIM:616781",
      "UMLS:C4084842"
    ],
    "synonyms": [
      "CEP104 Joubert syndrome",
      "JBTS25",
      "Joubert syndrome 25",
      "Joubert syndrome caused by mutation in CEP104",
      "Joubert syndrome type 25"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18736,
      "label": "Joubert syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7000,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050777",
          "GARD:0006802",
          "MEDGEN:1876534",
          "NCIT:C74996",
          "NORD:1312",
          "OMIMPS:213300",
          "Orphanet:475",
          "SCTID:716997004",
          "UMLS:C5979921",
          "icd11.foundation:1414756318"
        ],
        "synonyms": [
          "CPD IV",
          "Joubert syndrome",
          "Joubert syndrome type A",
          "Joubert-Boltshauser syndrome",
          "cerebelloparenchymal disorder IV",
          "classic Joubert syndrome",
          "pure Joubert syndrome",
          "cerebellar vermis agenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."
      },
      "child_count": 117,
      "reference_id": "MONDO:0018772"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18736,
      "label": "Joubert syndrome"
    }
  ]
}