{
  "id": 13482,
  "label": "Joubert syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012432",
  "properties": {
    "xrefs": [
      "DOID:0111000",
      "GARD:0015475",
      "MEDGEN:347545",
      "MESH:C537688",
      "OMIM:610188",
      "UMLS:C1857780"
    ],
    "synonyms": [
      "CEP290 Joubert syndrome",
      "JBTS5",
      "Joubert syndrome 5",
      "Joubert syndrome caused by mutation in CEP290",
      "Joubert syndrome type 5"
    ],
    "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 CEP290 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"
    },
    {
      "id": 24178,
      "label": "CEP290-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026225"
        ],
        "synonyms": [
          "CEP290 ciliopathy",
          "BBS14",
          "Bardet-Biedl syndrome 14",
          "Bardet-Biedl syndrome type 14",
          "CEP290 Joubert syndrome",
          "CEP290 Leber congenital amaurosis",
          "CEP290 Meckel syndrome",
          "CEP290 Senior-Loken syndrome",
          "JBTS5",
          "Joubert syndrome 5",
          "Joubert syndrome caused by mutation in CEP290",
          "Joubert syndrome type 5",
          "LCA10",
          "Leber congenital amaurosis 10",
          "Leber congenital amaurosis caused by mutation in CEP290",
          "Leber congenital amaurosis type 10",
          "MKS4",
          "Meckel syndrome 4",
          "Meckel syndrome caused by mutation in CEP290",
          "Meckel syndrome, type 4",
          "Meckel-Gruber syndrome, type 4",
          "Meckel-like Cerebrorenodigital syndrome",
          "SENIOR-Loken syndrome 6",
          "SLSN6",
          "Senior-Loken syndrome 6",
          "Senior-Loken syndrome caused by mutation in CEP290",
          "Senior-Loken syndrome type 6",
          "amaurosis congenita of Leber, type 10"
        ],
        "definition": "A ciliopathy caused by biallelic variants in the CEP290 gene."
      },
      "child_count": 5,
      "reference_id": "MONDO:0100451"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10706,
      "label": "Joubert syndrome with oculorenal defect"
    },
    {
      "id": 18736,
      "label": "Joubert syndrome"
    },
    {
      "id": 24178,
      "label": "CEP290-related ciliopathy"
    }
  ]
}