{
  "id": 15292,
  "label": "Joubert syndrome 21",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014288",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18431,
      "label": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16225,
        16302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017637",
          "MEDGEN:1371401",
          "Orphanet:397715",
          "SCTID:733418003",
          "UMLS:C4518774"
        ],
        "synonyms": [
          "JBTS with JATD",
          "Joubert syndrome with JATD"
        ],
        "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": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018342"
    },
    {
      "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": 18431,
      "label": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy"
    },
    {
      "id": 18736,
      "label": "Joubert syndrome"
    }
  ]
}