{
  "id": 16896,
  "label": "Joubert syndrome with ocular defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016364",
  "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."
  },
  "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": 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": 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": 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": 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"
    }
  ],
  "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"
    }
  ]
}