{
  "id": 14838,
  "label": "Joubert syndrome 17",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013824",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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": [
    {
      "id": 11358,
      "label": "orofaciodigital syndrome type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14838,
        16229,
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060376",
          "GARD:0004412",
          "MEDGEN:411200",
          "MESH:C536531",
          "NCIT:C124841",
          "OMIM:277170",
          "Orphanet:2754",
          "SCTID:721873007",
          "UMLS:C2745997"
        ],
        "synonyms": [
          "Joubert syndrome with oral-facial-digital syndrome",
          "Joubert syndrome with orofaciodigital defect",
          "OFD6",
          "Varadi syndrome",
          "Varadi-Papp syndrome",
          "oral-facial-digital syndrome type 6",
          "orofaciodigital syndrome VI",
          "orofaciodigital syndrome type 6",
          "polydactyly-cleft lip/palate-psychomotor retardation syndrome",
          "Ofds 6",
          "Váradi syndrome",
          "Váradi-Papp syndrome",
          "oral-Facial-digital syndrome, type 6",
          "orofaciodigital syndrome 6",
          "polydactyly - cleft lip/palate - psychomotor retardation",
          "polydactyly cleft lip palate psychomotor retardation",
          "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010176"
    }
  ],
  "roots": [
    {
      "id": 18736,
      "label": "Joubert syndrome"
    }
  ]
}