{
  "id": 13153,
  "label": "primary ciliary dyskinesia 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012087",
  "properties": {
    "xrefs": [
      "DOID:0110614",
      "GARD:0015437",
      "MEDGEN:324841",
      "MESH:C535279",
      "OMIM:608646",
      "UMLS:C1837616"
    ],
    "synonyms": [
      "CILD4",
      "primary ciliary dyskinesia type 4",
      "ciliary dyskinesia, primary, 4",
      "ciliary dyskinesia, primary, 4, with or without situs inversus"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1."
  },
  "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"
    }
  ]
}