{
  "id": 13144,
  "label": "Joubert syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012078",
  "properties": {
    "xrefs": [
      "DOID:0110998",
      "GARD:0015435",
      "MEDGEN:332931",
      "MESH:C536295",
      "NCIT:C148259",
      "OMIM:608629",
      "UMLS:C1837713"
    ],
    "synonyms": [
      "AHI1 Joubert syndrome",
      "JBTS3",
      "Joubert syndrome 3",
      "Joubert syndrome caused by mutation in AHI1",
      "Joubert syndrome type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16896,
      "label": "Joubert syndrome with ocular defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16225,
        19709,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010168",
          "MEDGEN:909607",
          "Orphanet:220493",
          "SCTID:716998009",
          "UMLS:C4274118",
          "icd11.foundation:1358617785"
        ],
        "synonyms": [
          "JS-O",
          "Joubert syndrome with retinopathy",
          "JBTS3",
          "Joubert syndrome 3",
          "Joubert syndrome with ocular anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy."
      },
      "child_count": 20,
      "reference_id": "MONDO:0016364"
    },
    {
      "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": 16896,
      "label": "Joubert syndrome with ocular defect"
    },
    {
      "id": 18736,
      "label": "Joubert syndrome"
    }
  ]
}