{
  "id": 14018,
  "label": "primary ciliary dyskinesia 11",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012978",
  "properties": {
    "xrefs": [
      "DOID:0110602",
      "GARD:0015574",
      "MEDGEN:390741",
      "MESH:C567212",
      "OMIM:612649",
      "UMLS:C2675229"
    ],
    "synonyms": [
      "CILD11",
      "RSPH4A primary ciliary dyskinesia",
      "ciliary dyskinesia, primary, type 11",
      "primary ciliary dyskinesia 11",
      "primary ciliary dyskinesia caused by mutation in RSPH4A",
      "primary ciliary dyskinesia type 11",
      "ciliary dyskinesia, primary, 11",
      "ciliary dyskinesia, primary, 11, without situs inversus"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17068,
      "label": "primary ciliary dyskinesia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6815,
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050144",
          "DOID:9562",
          "GARD:0004484",
          "MEDGEN:3467",
          "MESH:D002925",
          "MESH:D007619",
          "MedDRA:10069713",
          "NANDO:2100034",
          "NANDO:2200203",
          "NANDO:2200204",
          "NCIT:C84797",
          "NORD:1605",
          "OMIMPS:244400",
          "Orphanet:244",
          "SCTID:42402006",
          "SCTID:86204009",
          "UMLS:C0008780",
          "icd11.foundation:1713839459"
        ],
        "synonyms": [
          "Kartagener syndrome",
          "Kartagener's syndrome",
          "PCD",
          "Dextrocardia bronchiectasis and sinusitis",
          "Dextrocardia-bronchiectasis-sinusitis syndrome",
          "ICS",
          "Immotile cilia syndrome, Kartagener type",
          "Primary ciliary dyskinesia and situs inversus",
          "Primary ciliary dyskinesia, Kartagener type",
          "Siewert syndrome",
          "bronchiectasis, chronic sinusitis and dextrocardia syndrome",
          "ciliary dyskinesia primary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)."
      },
      "child_count": 177,
      "reference_id": "MONDO:0016575"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17068,
      "label": "primary ciliary dyskinesia"
    }
  ]
}