{
  "id": 18736,
  "label": "Joubert syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018772",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 39,
  "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": 7000,
      "label": "ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060340",
          "EFO:0003900",
          "GARD:0021544",
          "GTR:AN0966173",
          "MEDGEN:908923",
          "Orphanet:363250",
          "UMLS:C4277690"
        ],
        "synonyms": [
          "ciliopathy",
          "ciliopathies"
        ],
        "definition": "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005308"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 10204,
      "label": "Joubert syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110980",
          "GARD:0024643",
          "MEDGEN:1644883",
          "OMIM:213300",
          "UMLS:C4551568"
        ],
        "synonyms": [
          "CORS1",
          "CPD4",
          "INPP5E Joubert syndrome",
          "JBTS1",
          "Joubert syndrome 1",
          "Joubert syndrome caused by mutation in INPP5E",
          "Joubert syndrome type 1",
          "cerebellooculorenal syndrome 1",
          "Cerebellooculorenal syndrome 1",
          "Joubert syndrome",
          "Joubert-Boltshauser syndrome",
          "cerebelloparenchymal disorder 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008944"
    },
    {
      "id": 11591,
      "label": "Joubert syndrome 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736,
        29269
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110981",
          "GARD:0015265",
          "MEDGEN:440688",
          "MESH:C567582",
          "OMIM:300804",
          "UMLS:C2749019"
        ],
        "synonyms": [
          "JBTS10",
          "Joubert syndrome 10",
          "Joubert syndrome 10, X-linked recessive",
          "Joubert syndrome caused by mutation in OFD1",
          "Joubert syndrome type 10",
          "OFD1 Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010431"
    },
    {
      "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": 13144,
      "label": "Joubert syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16896,
        18736
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012078"
    },
    {
      "id": 13364,
      "label": "Joubert syndrome with renal defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110999",
          "GARD:0010169",
          "MEDGEN:335526",
          "MESH:C536296",
          "NCIT:C74997",
          "OMIM:609583",
          "Orphanet:220497",
          "SCTID:716999001",
          "UMLS:C1846790",
          "icd11.foundation:1419767028"
        ],
        "synonyms": [
          "JBTS4",
          "JS-R",
          "Joubert syndrome type 4",
          "Joubert syndrome 4",
          "Joubert syndrome with renal anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012308"
    },
    {
      "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": 13587,
      "label": "Joubert syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111001",
          "GARD:0015494",
          "MEDGEN:342805",
          "MESH:C537689",
          "OMIM:610688",
          "UMLS:C1853153"
        ],
        "synonyms": [
          "JBTS6",
          "Joubert syndrome 6",
          "Joubert syndrome caused by mutation in TMEM67",
          "Joubert syndrome type 6",
          "TMEM67 Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012539"
    },
    {
      "id": 13734,
      "label": "Joubert syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111002",
          "GARD:0015519",
          "MEDGEN:369401",
          "MESH:C566916",
          "NCIT:C159653",
          "OMIM:611560",
          "UMLS:C1969053"
        ],
        "synonyms": [
          "JBTS7",
          "Joubert syndrome 7",
          "Joubert syndrome caused by mutation in RPGRIP1L",
          "Joubert syndrome type 7",
          "RPGRIP1L Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012694"
    },
    {
      "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": 13895,
      "label": "Joubert syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111003",
          "GARD:0015550",
          "MEDGEN:436772",
          "MESH:C567358",
          "OMIM:612291",
          "UMLS:C2676771"
        ],
        "synonyms": [
          "ARL13B Joubert syndrome",
          "JBTS8",
          "Joubert syndrome 8",
          "Joubert syndrome caused by mutation in ARL13B",
          "Joubert syndrome type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012855"
    },
    {
      "id": 14634,
      "label": "Joubert syndrome 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110982",
          "GARD:0015765",
          "MEDGEN:481661",
          "OMIM:614173",
          "UMLS:C3280031"
        ],
        "synonyms": [
          "JBTS13",
          "Joubert syndrome 13",
          "Joubert syndrome caused by mutation in TCTN1",
          "Joubert syndrome type 13",
          "TCTN1 Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013608"
    },
    {
      "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": 14781,
      "label": "Joubert syndrome 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16896,
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110984",
          "GARD:0015806",
          "MEDGEN:482527",
          "OMIM:614464",
          "UMLS:C3280897"
        ],
        "synonyms": [
          "CEP41 Joubert syndrome",
          "JBTS15",
          "Joubert syndrome 15",
          "Joubert syndrome caused by mutation in CEP41",
          "Joubert syndrome type 15",
          "Joubert syndrome 12/15, digenic",
          "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 CEP41 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013763"
    },
    {
      "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"
    },
    {
      "id": 14838,
      "label": "Joubert syndrome 17",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110986",
          "GARD:0015824",
          "MEDGEN:766178",
          "NCIT:C175702",
          "OMIM:614615",
          "UMLS:C3553264"
        ],
        "synonyms": [
          "CPLANE1 Joubert syndrome",
          "JBTS17",
          "Joubert syndrome 17",
          "Joubert syndrome caused by mutation in CPLANE1",
          "Joubert syndrome type 17"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0013824"
    },
    {
      "id": 14908,
      "label": "Joubert syndrome 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110987",
          "GARD:0015843",
          "MEDGEN:766672",
          "OMIM:614815",
          "UMLS:C3553758"
        ],
        "synonyms": [
          "JBTS18",
          "Joubert syndrome 18",
          "Joubert syndrome caused by mutation in TCTN3",
          "Joubert syndrome type 18",
          "TCTN3 Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013896"
    },
    {
      "id": 15004,
      "label": "Joubert syndrome 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16896,
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110989",
          "GARD:0015887",
          "MEDGEN:767149",
          "OMIM:614970",
          "UMLS:C3554235"
        ],
        "synonyms": [
          "JBTS20",
          "Joubert syndrome 20",
          "Joubert syndrome caused by mutation in TMEM231",
          "Joubert syndrome type 20",
          "TMEM231 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 TMEM231 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013994"
    },
    {
      "id": 15292,
      "label": "Joubert syndrome 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18431,
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110990",
          "GARD:0015997",
          "MEDGEN:816542",
          "OMIM:615636",
          "UMLS:C3810212"
        ],
        "synonyms": [
          "CSPP1 Joubert syndrome",
          "JBTS21",
          "Joubert syndrome 21",
          "Joubert syndrome caused by mutation in CSPP1",
          "Joubert syndrome type 21"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014288"
    },
    {
      "id": 15301,
      "label": "Joubert syndrome 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110991",
          "GARD:0015999",
          "MEDGEN:816608",
          "OMIM:615665",
          "UMLS:C3810278"
        ],
        "synonyms": [
          "JBTS22",
          "Joubert syndrome 22",
          "Joubert syndrome caused by mutation in PDE6D",
          "Joubert syndrome type 22",
          "PDE6D Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014297"
    },
    {
      "id": 15659,
      "label": "Joubert syndrome 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110992",
          "GARD:0016124",
          "MEDGEN:900119",
          "OMIM:616490",
          "UMLS:C4084822"
        ],
        "synonyms": [
          "JBTS23",
          "Joubert syndrome 23",
          "Joubert syndrome caused by mutation in KIAA0586",
          "Joubert syndrome type 23",
          "KIAA0586 Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014664"
    },
    {
      "id": 15716,
      "label": "Joubert syndrome 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110993",
          "GARD:0016150",
          "MEDGEN:905319",
          "OMIM:616654",
          "UMLS:C4084841"
        ],
        "synonyms": [
          "JBTS24",
          "Joubert syndrome 24",
          "Joubert syndrome caused by mutation in TCTN2",
          "Joubert syndrome type 24",
          "TCTN2 Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014724"
    },
    {
      "id": 15759,
      "label": "Joubert syndrome 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110994",
          "GARD:0016159",
          "MEDGEN:895764",
          "OMIM:616781",
          "UMLS:C4084842"
        ],
        "synonyms": [
          "CEP104 Joubert syndrome",
          "JBTS25",
          "Joubert syndrome 25",
          "Joubert syndrome caused by mutation in CEP104",
          "Joubert syndrome type 25"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014770"
    },
    {
      "id": 15760,
      "label": "Joubert syndrome 26",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110995",
          "GARD:0016160",
          "MEDGEN:900415",
          "OMIM:616784",
          "UMLS:C4084843"
        ],
        "synonyms": [
          "JBTS26",
          "Joubert syndrome 26",
          "Joubert syndrome caused by mutation in KIAA0556",
          "Joubert syndrome type 26",
          "KIAA0556 Joubert syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014771"
    },
    {
      "id": 15906,
      "label": "Joubert syndrome 27",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110996",
          "GARD:0016194",
          "MEDGEN:934673",
          "OMIM:617120",
          "UMLS:C4310706"
        ],
        "synonyms": [
          "B9D1 Joubert syndrome",
          "JBTS27",
          "Joubert syndrome 27",
          "Joubert syndrome caused by mutation in B9D1",
          "Joubert syndrome type 27"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014927"
    },
    {
      "id": 15907,
      "label": "Joubert syndrome 28",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16896,
        18736,
        29291
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110997",
          "GARD:0016195",
          "MEDGEN:934672",
          "OMIM:617121",
          "UMLS:C4310705"
        ],
        "synonyms": [
          "JBTS28",
          "Joubert syndrome 28",
          "Joubert syndrome caused by mutation in MKS1",
          "Joubert syndrome type 28",
          "MKS1 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 MKS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014928"
    },
    {
      "id": 21897,
      "label": "Joubert syndrome 38",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025547",
          "MEDGEN:1794168",
          "OMIM:619476",
          "UMLS:C5561958"
        ],
        "synonyms": [
          "JBTS38",
          "Joubert syndrome 38"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030353"
    },
    {
      "id": 21924,
      "label": "Joubert syndrome 39",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025565",
          "MEDGEN:1794210",
          "OMIM:619562",
          "UMLS:C5562000"
        ],
        "synonyms": [
          "JBTS39"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030454"
    },
    {
      "id": 21929,
      "label": "Joubert syndrome 40",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736,
        29350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025569",
          "MEDGEN:1794217",
          "OMIM:619582",
          "UMLS:C5562007"
        ],
        "synonyms": [
          "JBTS40"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030462"
    },
    {
      "id": 22137,
      "label": "Joubert syndrome 37",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016434",
          "MEDGEN:1786742",
          "OMIM:619185",
          "UMLS:C5543064"
        ],
        "synonyms": [
          "JBTS37",
          "Joubert syndrome 37"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030933"
    },
    {
      "id": 22261,
      "label": "Joubert syndrome 35",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016297",
          "MEDGEN:1648453",
          "OMIM:618161",
          "UMLS:C4748442"
        ],
        "synonyms": [
          "JBTS35",
          "JOUBERT SYNDROME 35"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032570"
    },
    {
      "id": 22554,
      "label": "Joubert syndrome 36",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016376",
          "MEDGEN:1684786",
          "OMIM:618763",
          "UMLS:C5231493"
        ],
        "synonyms": [
          "JBTS36",
          "JOUBERT SYNDROME 36"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032902"
    },
    {
      "id": 22636,
      "label": "Joubert syndrome 30",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080275",
          "GARD:0016243",
          "MEDGEN:1613861",
          "OMIM:617622",
          "UMLS:C4539937"
        ],
        "synonyms": [
          "Joubert syndrome 30",
          "JBTS30"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033308"
    },
    {
      "id": 22637,
      "label": "Joubert syndrome 32",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080278",
          "GARD:0025792",
          "MEDGEN:1626697",
          "OMIM:617757",
          "UMLS:C4540342"
        ],
        "synonyms": [
          "Joubert syndrome 32",
          "JBTS32"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033309"
    },
    {
      "id": 22638,
      "label": "Joubert syndrome 31",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080277",
          "GARD:0016251",
          "MEDGEN:1618082",
          "OMIM:617761",
          "UMLS:C4540355"
        ],
        "synonyms": [
          "Joubert syndrome 31",
          "JBTS31"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033310"
    },
    {
      "id": 22639,
      "label": "Joubert syndrome 33",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080279",
          "GARD:0025793",
          "MEDGEN:1615779",
          "OMIM:617767",
          "UMLS:C4540389"
        ],
        "synonyms": [
          "Joubert syndrome 33",
          "JBTS33"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033311"
    },
    {
      "id": 24952,
      "label": "Joubert syndrome 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026522",
          "MEDGEN:766760",
          "UMLS:C3553846"
        ],
        "synonyms": [
          "JBTS19"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800363"
    },
    {
      "id": 24961,
      "label": "Joubert syndrome 29",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080276",
          "GARD:0026531",
          "MEDGEN:1625238",
          "UMLS:C4539715"
        ],
        "synonyms": [
          "JBTS29"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800372"
    },
    {
      "id": 24971,
      "label": "Joubert syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026537",
          "MEDGEN:480833",
          "UMLS:C3279203"
        ],
        "synonyms": [
          "JBTS11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800382"
    },
    {
      "id": 24972,
      "label": "Joubert syndrome 34",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026538",
          "MEDGEN:1612206",
          "UMLS:C4539386"
        ],
        "synonyms": [
          "JBTS34"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800383"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7000,
      "label": "ciliopathy"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}