{
  "id": 14763,
  "label": "Joubert syndrome 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013745",
  "properties": {
    "xrefs": [
      "DOID:0110983",
      "GARD:0015801",
      "MEDGEN:482396",
      "OMIM:614424",
      "UMLS:C3280766"
    ],
    "synonyms": [
      "JBTS14",
      "Joubert syndrome 14",
      "Joubert syndrome caused by mutation in TMEM237",
      "Joubert syndrome type 14",
      "TMEM237 Joubert syndrome"
    ],
    "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 TMEM237 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10706,
      "label": "Joubert syndrome with oculorenal defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16225,
        19709,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009455",
          "MEDGEN:340930",
          "MESH:C537430",
          "NANDO:1200662",
          "OMIM:243910",
          "Orphanet:2318",
          "SCTID:721862000",
          "UMLS:C1855675",
          "icd11.foundation:397835469"
        ],
        "synonyms": [
          "Arima syndrome",
          "CORS",
          "Cerebellooculorenal syndrome",
          "Dekaban-Arima syndrome",
          "JS type B",
          "JS-OR",
          "Joubert syndrome with Senior-Loken syndrome",
          "Joubert syndrome with oculorenal defect",
          "Dekaban Arima syndrome",
          "Joubert syndrome 5",
          "Joubert syndrome with bilateral chorioretinal coloboma",
          "Joubert syndrome with oculorenal anomalies",
          "cerebello-oculo-renal syndrome",
          "cerebro-oculo-hepato-renal syndrome",
          "cerebrooculohepatorenal syndrome",
          "chorioretinal coloboma with cerebellar vermis aplasia",
          "coloboma, chorioretinal, with cerebellar vermis aplasia"
        ],
        "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 oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease."
      },
      "child_count": 20,
      "reference_id": "MONDO:0009480"
    },
    {
      "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": 10706,
      "label": "Joubert syndrome with oculorenal defect"
    },
    {
      "id": 16896,
      "label": "Joubert syndrome with ocular defect"
    },
    {
      "id": 18736,
      "label": "Joubert syndrome"
    }
  ]
}