{
  "id": 15004,
  "label": "Joubert syndrome 20",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013994",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16896,
      "label": "Joubert syndrome with ocular defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16225,
        19709,
        21415
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 20,
      "reference_id": "MONDO:0016364"
    },
    {
      "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": 16896,
      "label": "Joubert syndrome with ocular defect"
    },
    {
      "id": 18736,
      "label": "Joubert syndrome"
    }
  ]
}