{
  "id": 13364,
  "label": "Joubert syndrome with renal defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012308",
  "properties": {
    "xrefs": [
      "DOID:0110999",
      "GARD:0010169",
      "MEDGEN:335526",
      "MESH:C536296",
      "NCIT:C74997",
      "OMIM:609583",
      "Orphanet:220497",
      "SCTID:716999001",
      "UMLS:C1846790",
      "icd11.foundation:1419767028"
    ],
    "synonyms": [
      "JBTS4",
      "JS-R",
      "Joubert syndrome type 4",
      "Joubert syndrome 4",
      "Joubert syndrome with renal anomalies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."
  },
  "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"
    }
  ]
}