{
  "id": 14782,
  "label": "Joubert syndrome 16",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013764",
  "properties": {
    "xrefs": [
      "DOID:0110985",
      "GARD:0015807",
      "MEDGEN:482536",
      "OMIM:614465",
      "UMLS:C3280906"
    ],
    "synonyms": [
      "JBTS16",
      "Joubert syndrome 16",
      "Joubert syndrome caused by mutation in TMEM138",
      "Joubert syndrome type 16",
      "TMEM138 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 TMEM138 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": 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": 18736,
      "label": "Joubert syndrome"
    }
  ]
}