{
  "id": 11591,
  "label": "Joubert syndrome 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010431",
  "properties": {
    "xrefs": [
      "DOID:0110981",
      "GARD:0015265",
      "MEDGEN:440688",
      "MESH:C567582",
      "OMIM:300804",
      "UMLS:C2749019"
    ],
    "synonyms": [
      "JBTS10",
      "Joubert syndrome 10",
      "Joubert syndrome 10, X-linked recessive",
      "Joubert syndrome caused by mutation in OFD1",
      "Joubert syndrome type 10",
      "OFD1 Joubert syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 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"
    },
    {
      "id": 29269,
      "label": "OFD1-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028143"
        ],
        "synonyms": [
          "OFD1-related ciliopathy"
        ],
        "definition": "Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040039"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18736,
      "label": "Joubert syndrome"
    },
    {
      "id": 29269,
      "label": "OFD1-related ciliopathy"
    }
  ]
}