{
  "id": 10710,
  "label": "primary ciliary dyskinesia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009484",
  "properties": {
    "xrefs": [
      "DOID:0110594",
      "GARD:0024674",
      "MEDGEN:1646059",
      "NCIT:C128117",
      "OMIM:244400",
      "Orphanet:98861",
      "UMLS:C4551906"
    ],
    "synonyms": [
      "CILD1",
      "DNAI1 primary ciliary dyskinesia",
      "ciliary dyskinesia, primary, type 1",
      "primary ciliary dyskinesia 1",
      "primary ciliary dyskinesia caused by mutation in DNAI1",
      "primary ciliary dyskinesia type 1",
      "Kartagener syndrome",
      "PCD",
      "Polynesian bronchiectasis",
      "Siewert syndrome",
      "ciliary dyskinesia, primary, 1",
      "ciliary dyskinesia, primary, 1, with or without situs inversus",
      "dextrocardia, bronchiectasis, and sinusitis",
      "immotile cilia syndrome"
    ],
    "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 DNAI1 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"
    }
  ]
}