{
  "id": 10706,
  "label": "Joubert syndrome with oculorenal defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009480",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16225,
      "label": "Joubert syndrome and related disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019931",
          "MEDGEN:1826007",
          "NANDO:1200661",
          "NANDO:2100218",
          "NANDO:2200824",
          "Orphanet:140874",
          "UMLS:C5679612"
        ],
        "synonyms": [
          "JSRD",
          "Joubert syndrome and related disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015369"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "id": 21415,
      "label": "disorder of visual system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "SCTID:128127008"
        ],
        "synonyms": [
          "disease of visual system",
          "disease or disorder of visual system",
          "disorder of visual system",
          "visual system disease",
          "visual system disease or disorder",
          "visual system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease that involves the visual system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0024458"
    }
  ],
  "children": [
    {
      "id": 13034,
      "label": "Joubert syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10706,
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110988",
          "GARD:0010167",
          "MEDGEN:334114",
          "MESH:C536294",
          "OMIM:608091",
          "UMLS:C1842577"
        ],
        "synonyms": [
          "CORS2",
          "JBTS2",
          "Joubert syndrome 2",
          "Joubert syndrome caused by mutation in TMEM216",
          "Joubert syndrome type 2",
          "TMEM216 Joubert syndrome",
          "cerebellooculorenal syndrome 2",
          "Cerebellooculorenal syndrome 2"
        ],
        "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 TMEM216 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011963"
    },
    {
      "id": 13482,
      "label": "Joubert syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10706,
        18736,
        24178
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012432"
    },
    {
      "id": 13889,
      "label": "Joubert syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10706,
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111004",
          "GARD:0015549",
          "MEDGEN:382940",
          "MESH:C567364",
          "NCIT:C181002",
          "OMIM:612285",
          "UMLS:C2676788"
        ],
        "synonyms": [
          "CC2D2A Joubert syndrome",
          "JBTS9",
          "Joubert syndrome 9",
          "Joubert syndrome caused by mutation in CC2D2A",
          "Joubert syndrome type 9",
          "Joubert syndrome 9/15, digenic"
        ],
        "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 CC2D2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012849"
    },
    {
      "id": 14763,
      "label": "Joubert syndrome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10706,
        16896,
        18736
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013745"
    },
    {
      "id": 14782,
      "label": "Joubert syndrome 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10706,
        18736
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013764"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16225,
      "label": "Joubert syndrome and related disorders"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 21415,
      "label": "disorder of visual system"
    }
  ]
}