{
  "id": 17068,
  "label": "primary ciliary dyskinesia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016575",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 59,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6815,
      "label": "respiratory system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1579",
          "EFO:0000684",
          "ICD10CM:J00-J99",
          "ICD9:460-519",
          "ICD9:500-508",
          "ICD9:503",
          "ICD9:508",
          "ICD9:508.1",
          "ICD9:508.8",
          "ICD9:508.9",
          "ICD9:510-519",
          "ICD9:516",
          "ICD9:516.8",
          "ICD9:516.9",
          "ICD9:517",
          "ICD9:517.8",
          "ICD9:519",
          "ICD9:519.1",
          "ICD9:519.3",
          "ICD9:519.8",
          "ICD9:519.9",
          "ICD9:V12.60",
          "ICD9:V47.2",
          "MEDGEN:48421",
          "MESH:D012140",
          "NANDO:1100010",
          "NCIT:C26871",
          "SCTID:50043002",
          "UMLS:C0035204"
        ],
        "synonyms": [
          "disease of respiratory system",
          "disease or disorder of respiratory system",
          "disorder of respiratory system",
          "respiratory disease",
          "respiratory disorder",
          "respiratory system disease",
          "respiratory system disease or disorder",
          "respiratory system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."
      },
      "child_count": 59,
      "reference_id": "MONDO:0005087"
    },
    {
      "id": 7000,
      "label": "ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060340",
          "EFO:0003900",
          "GARD:0021544",
          "GTR:AN0966173",
          "MEDGEN:908923",
          "Orphanet:363250",
          "UMLS:C4277690"
        ],
        "synonyms": [
          "ciliopathy",
          "ciliopathies"
        ],
        "definition": "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005308"
    }
  ],
  "children": [
    {
      "id": 10242,
      "label": "ciliary discoordination due to random ciliary orientation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001360",
          "ICD9:759.89",
          "MEDGEN:83299",
          "MESH:C562757",
          "OMIM:215518",
          "SCTID:233667003",
          "UMLS:C0340038"
        ],
        "synonyms": [
          "ciliary discoordination due to random ciliary orientation",
          "Rutland ciliary disorientation syndrome",
          "ciliary discoordination, due to random ciliary orientation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008984"
    },
    {
      "id": 10243,
      "label": "ciliary dyskinesia with transposition of ciliary microtubules",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001361",
          "MEDGEN:388736",
          "MESH:C567137",
          "OMIM:215520",
          "UMLS:C2673817"
        ],
        "synonyms": [
          "ciliary dyskinesia with transposition of ciliary microtubules",
          "ciliary dyskinesia, due to transposition of ciliary microtubules"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008985"
    },
    {
      "id": 10678,
      "label": "ciliary dyskinesia with defective radial spokes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002981",
          "ICD9:759.89",
          "MEDGEN:137933",
          "MESH:C536286",
          "OMIM:242670",
          "SCTID:233664005",
          "UMLS:C0340035"
        ],
        "synonyms": [
          "ciliary dyskinesia with defective radial spokes",
          "cilia with defective radial spokes",
          "immotile cilia syndrome due to defective radial spokes",
          "immotile cilia syndrome, due to defective radial spokes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009449"
    },
    {
      "id": 10679,
      "label": "ciliary dyskinesia with excessively long cilia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002982",
          "ICD9:759.89",
          "MEDGEN:90947",
          "MESH:C536287",
          "OMIM:242680",
          "SCTID:233665006",
          "UMLS:C0340036"
        ],
        "synonyms": [
          "ciliary dyskinesia with excessively long cilia",
          "immotile cilia syndrome due to excessively long cilia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009450"
    },
    {
      "id": 10703,
      "label": "Stromme syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        17068,
        23110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110595",
          "EFO:0009160",
          "GARD:0017945",
          "MEDGEN:340938",
          "MESH:C565460",
          "OMIM:243605",
          "OMIM:616369",
          "Orphanet:444069",
          "Orphanet:506307",
          "UMLS:C1855705"
        ],
        "synonyms": [
          "CILD31",
          "Stromme syndrome",
          "apple peel syndrome with microcephaly and ocular anomalies",
          "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome",
          "ciliary dyskinesia, primary, type 31",
          "jejunal atresia with microcephaly and ocular anomalies",
          "jejunal atresia-microcephaly-ocular anomalies syndrome",
          "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
          "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
          "STROMS",
          "ciliary dyskinesia, primary, 31",
          "ciliary dyskinesia, primary, 31, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009477"
    },
    {
      "id": 10710,
      "label": "primary ciliary dyskinesia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009484"
    },
    {
      "id": 11674,
      "label": "ciliary dyskinesia, primary, 36, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111850",
          "GARD:0015280",
          "MEDGEN:1393107",
          "OMIM:300991",
          "UMLS:C4478372"
        ],
        "synonyms": [
          "CILD36",
          "PIH1D3 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, 36, X-linked",
          "ciliary dyskinesia, primary, 36, X-linked, X-linked recessive",
          "ciliary dyskinesia, primary, 36, X-linked; CILD36",
          "primary ciliary dyskinesia caused by mutation in PIH1D3",
          "ciliary dyskinesia, primary, 36, with or 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 PIH1D3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010517"
    },
    {
      "id": 12805,
      "label": "primary ciliary dyskinesia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110626",
          "GARD:0015400",
          "MEDGEN:338258",
          "MESH:C535277",
          "OMIM:606763",
          "UMLS:C1847554"
        ],
        "synonyms": [
          "CILD2",
          "DNAAF3 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 2",
          "primary ciliary dyskinesia caused by mutation in DNAAF3",
          "primary ciliary dyskinesia type 2",
          "ciliary dyskinesia, primary, 2",
          "ciliary dyskinesia, primary, 2, with or 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 DNAAF3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011718"
    },
    {
      "id": 13151,
      "label": "primary ciliary dyskinesia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110599",
          "GARD:0015436",
          "MEDGEN:325210",
          "MESH:C535278",
          "NCIT:C172392",
          "OMIM:608644",
          "UMLS:C1837618"
        ],
        "synonyms": [
          "CILD3",
          "DNAH5 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 3",
          "primary ciliary dyskinesia 3",
          "primary ciliary dyskinesia caused by mutation in DNAH5",
          "primary ciliary dyskinesia type 3",
          "ciliary dyskinesia, primary, 3",
          "ciliary dyskinesia, primary, 3, with or 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 DNAH5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012085"
    },
    {
      "id": 13153,
      "label": "primary ciliary dyskinesia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012087"
    },
    {
      "id": 13154,
      "label": "primary ciliary dyskinesia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110617",
          "GARD:0015438",
          "MEDGEN:324840",
          "MESH:C563886",
          "OMIM:608647",
          "UMLS:C1837615"
        ],
        "synonyms": [
          "CILD5",
          "HYDIN primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 5",
          "primary ciliary dyskinesia caused by mutation in HYDIN",
          "primary ciliary dyskinesia type 5",
          "ciliary dyskinesia, primary, 5",
          "ciliary dyskinesia, primary, 5, 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 HYDIN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012088"
    },
    {
      "id": 13618,
      "label": "primary ciliary dyskinesia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110606",
          "GARD:0015502",
          "MEDGEN:370930",
          "MESH:C567057",
          "OMIM:610852",
          "UMLS:C1970506"
        ],
        "synonyms": [
          "CILD6",
          "NME8 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 6",
          "primary ciliary dyskinesia caused by mutation in NME8",
          "primary ciliary dyskinesia type 6",
          "ciliary dyskinesia, primary, 6"
        ],
        "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 NME8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012571"
    },
    {
      "id": 13788,
      "label": "primary ciliary dyskinesia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110605",
          "GARD:0015533",
          "MEDGEN:394834",
          "MESH:C567504",
          "OMIM:611884",
          "UMLS:C2678473"
        ],
        "synonyms": [
          "CILD7",
          "DNAH11 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 7",
          "primary ciliary dyskinesia 7",
          "primary ciliary dyskinesia caused by mutation in DNAH11",
          "primary ciliary dyskinesia type 7",
          "ciliary dyskinesia, primary, 7",
          "ciliary dyskinesia, primary, 7, with or 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 DNAH11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012748"
    },
    {
      "id": 13884,
      "label": "primary ciliary dyskinesia 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110616",
          "GARD:0015546",
          "MEDGEN:393653",
          "MESH:C567373",
          "OMIM:612274",
          "UMLS:C2677085"
        ],
        "synonyms": [
          "CILD8",
          "primary ciliary dyskinesia type 8",
          "ciliary dyskinesia, primary, 8",
          "ciliary dyskinesia, primary, 8, 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 has material basis in variation in the chromosome region 15q24-q25."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012844"
    },
    {
      "id": 13946,
      "label": "primary ciliary dyskinesia 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110622",
          "GARD:0015558",
          "MEDGEN:390990",
          "MESH:C567310",
          "OMIM:612444",
          "UMLS:C2676235"
        ],
        "synonyms": [
          "CILD9",
          "DNAI2 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 9",
          "primary ciliary dyskinesia 9",
          "primary ciliary dyskinesia caused by mutation in DNAI2",
          "primary ciliary dyskinesia type 9",
          "ciliary dyskinesia, primary, 9",
          "ciliary dyskinesia, primary, 9, with or 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 DNAI2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012906"
    },
    {
      "id": 13958,
      "label": "primary ciliary dyskinesia 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110612",
          "GARD:0015560",
          "MEDGEN:382707",
          "MESH:C567287",
          "OMIM:612518",
          "UMLS:C2675867"
        ],
        "synonyms": [
          "CILD10",
          "DNAAF2 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 10",
          "primary ciliary dyskinesia caused by mutation in DNAAF2",
          "primary ciliary dyskinesia type 10",
          "ciliary dyskinesia, primary, 10",
          "ciliary dyskinesia, primary, 10, with or 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 DNAAF2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012918"
    },
    {
      "id": 14018,
      "label": "primary ciliary dyskinesia 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012978"
    },
    {
      "id": 14019,
      "label": "primary ciliary dyskinesia 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110601",
          "GARD:0015575",
          "MEDGEN:436379",
          "MESH:C567211",
          "OMIM:612650",
          "UMLS:C2675228"
        ],
        "synonyms": [
          "CILD12",
          "RSPH9 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 12",
          "primary ciliary dyskinesia caused by mutation in RSPH9",
          "primary ciliary dyskinesia type 12",
          "ciliary dyskinesia, primary, 12",
          "ciliary dyskinesia, primary, 12, 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 RSPH9 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012979"
    },
    {
      "id": 14210,
      "label": "primary ciliary dyskinesia 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110618",
          "GARD:0015628",
          "MEDGEN:413399",
          "MESH:C567713",
          "OMIM:613193",
          "UMLS:C2750790"
        ],
        "synonyms": [
          "CILD13",
          "DNAAF1 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 13",
          "primary ciliary dyskinesia 13",
          "primary ciliary dyskinesia caused by mutation in DNAAF1",
          "primary ciliary dyskinesia type 13",
          "ciliary dyskinesia, primary, 13",
          "ciliary dyskinesia, primary, 13, with or 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 DNAAF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013174"
    },
    {
      "id": 14466,
      "label": "primary ciliary dyskinesia 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110598",
          "GARD:0015713",
          "MEDGEN:462486",
          "NCIT:C148370",
          "OMIM:613807",
          "UMLS:C3151136"
        ],
        "synonyms": [
          "CCDC39 primary ciliary dyskinesia",
          "CILD14",
          "ciliary dyskinesia, primary, type 14",
          "primary ciliary dyskinesia 14",
          "primary ciliary dyskinesia caused by mutation in CCDC39",
          "primary ciliary dyskinesia type 14",
          "ciliary dyskinesia, primary, 14",
          "ciliary dyskinesia, primary, 14, with or 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 CCDC39 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013434"
    },
    {
      "id": 14467,
      "label": "primary ciliary dyskinesia 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110623",
          "GARD:0015714",
          "MEDGEN:462487",
          "NCIT:C155999",
          "OMIM:613808",
          "UMLS:C3151137"
        ],
        "synonyms": [
          "CCDC40 primary ciliary dyskinesia",
          "CILD15",
          "ciliary dyskinesia, primary, type 15",
          "primary ciliary dyskinesia 15",
          "primary ciliary dyskinesia caused by mutation in CCDC40",
          "primary ciliary dyskinesia type 15",
          "ciliary dyskinesia, primary, 15",
          "ciliary dyskinesia, primary, 15, with or 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 CCDC40 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013435"
    },
    {
      "id": 14554,
      "label": "primary ciliary dyskinesia 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110613",
          "GARD:0015743",
          "MEDGEN:462810",
          "OMIM:614017",
          "UMLS:C3151460"
        ],
        "synonyms": [
          "CILD16",
          "DNAL1 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 16",
          "primary ciliary dyskinesia caused by mutation in DNAL1",
          "primary ciliary dyskinesia type 16",
          "ciliary dyskinesia, primary, 16",
          "ciliary dyskinesia, primary, 16, with or 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 DNAL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013525"
    },
    {
      "id": 14867,
      "label": "primary ciliary dyskinesia 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110621",
          "GARD:0015835",
          "MEDGEN:762261",
          "OMIM:614679",
          "UMLS:C3542550"
        ],
        "synonyms": [
          "CCDC103 primary ciliary dyskinesia",
          "CILD17",
          "ciliary dyskinesia, primary, type 17",
          "primary ciliary dyskinesia 17",
          "primary ciliary dyskinesia caused by mutation in CCDC103",
          "primary ciliary dyskinesia type 17",
          "ciliary dyskinesia, primary, 17",
          "ciliary dyskinesia, primary, 17, with or 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 CCDC103 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013854"
    },
    {
      "id": 14951,
      "label": "primary ciliary dyskinesia 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110604",
          "GARD:0015868",
          "MEDGEN:762331",
          "OMIM:614874",
          "UMLS:C3543825"
        ],
        "synonyms": [
          "CILD18",
          "DNAAF5 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 18",
          "primary ciliary dyskinesia caused by mutation in DNAAF5",
          "primary ciliary dyskinesia type 18",
          "ciliary dyskinesia, primary, 18",
          "ciliary dyskinesia, primary, 18, with or 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 DNAAF5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013940"
    },
    {
      "id": 14989,
      "label": "primary ciliary dyskinesia 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110608",
          "GARD:0015883",
          "MEDGEN:762332",
          "OMIM:614935",
          "UMLS:C3543826"
        ],
        "synonyms": [
          "CILD19",
          "LRRC6 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 19",
          "primary ciliary dyskinesia 19",
          "primary ciliary dyskinesia caused by mutation in LRRC6",
          "primary ciliary dyskinesia type 19",
          "ciliary dyskinesia, primary, 19",
          "ciliary dyskinesia, primary, 19, with or 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 LRRC6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013979"
    },
    {
      "id": 15040,
      "label": "primary ciliary dyskinesia 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110625",
          "GARD:0015902",
          "MEDGEN:761920",
          "OMIM:615067",
          "UMLS:C3540844"
        ],
        "synonyms": [
          "CCDC114 primary ciliary dyskinesia",
          "CILD20",
          "ciliary dyskinesia, primary, type 20",
          "primary ciliary dyskinesia caused by mutation in CCDC114",
          "primary ciliary dyskinesia type 20",
          "ciliary dyskinesia, primary, 20",
          "ciliary dyskinesia, primary, 20, with or 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 CCDC114 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014030"
    },
    {
      "id": 15131,
      "label": "primary ciliary dyskinesia 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110596",
          "GARD:0015940",
          "MEDGEN:815417",
          "OMIM:615294",
          "UMLS:C3809087"
        ],
        "synonyms": [
          "CILD21",
          "DRC1 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 21",
          "primary ciliary dyskinesia caused by mutation in DRC1",
          "primary ciliary dyskinesia type 21",
          "ciliary dyskinesia, primary, 21",
          "ciliary dyskinesia, primary, 21, 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 DRC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014123"
    },
    {
      "id": 15198,
      "label": "primary ciliary dyskinesia 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110597",
          "GARD:0015968",
          "MEDGEN:815873",
          "OMIM:615444",
          "UMLS:C3809543"
        ],
        "synonyms": [
          "CILD22",
          "ZMYND10 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 22",
          "primary ciliary dyskinesia caused by mutation in ZMYND10",
          "primary ciliary dyskinesia type 22",
          "ciliary dyskinesia, primary, 22",
          "ciliary dyskinesia, primary, 22, with or 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 ZMYND10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014192"
    },
    {
      "id": 15199,
      "label": "primary ciliary dyskinesia 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110609",
          "GARD:0015969",
          "MEDGEN:815878",
          "OMIM:615451",
          "UMLS:C3809548"
        ],
        "synonyms": [
          "ARMC4 primary ciliary dyskinesia",
          "CILD23",
          "ciliary dyskinesia, primary, type 23",
          "primary ciliary dyskinesia caused by mutation in ARMC4",
          "primary ciliary dyskinesia type 23",
          "ciliary dyskinesia, primary, 23",
          "ciliary dyskinesia, primary, 23, with or 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 ARMC4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014193"
    },
    {
      "id": 15208,
      "label": "primary ciliary dyskinesia 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110628",
          "GARD:0015971",
          "MEDGEN:815964",
          "OMIM:615481",
          "UMLS:C3809634"
        ],
        "synonyms": [
          "CILD24",
          "RSPH1 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 24",
          "primary ciliary dyskinesia 24",
          "primary ciliary dyskinesia caused by mutation in RSPH1",
          "primary ciliary dyskinesia type 24",
          "ciliary dyskinesia, primary, 24",
          "ciliary dyskinesia, primary, 24, 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 RSPH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014202"
    },
    {
      "id": 15209,
      "label": "primary ciliary dyskinesia 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110615",
          "GARD:0015972",
          "MEDGEN:815971",
          "OMIM:615482",
          "UMLS:C3809641"
        ],
        "synonyms": [
          "CILD25",
          "DNAAF4 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 25",
          "primary ciliary dyskinesia caused by mutation in DNAAF4",
          "primary ciliary dyskinesia type 25",
          "ciliary dyskinesia, primary, 25",
          "ciliary dyskinesia, primary, 25, with or 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 DNAAF4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014203"
    },
    {
      "id": 15217,
      "label": "primary ciliary dyskinesia 26",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110627",
          "GARD:0015974",
          "MEDGEN:816014",
          "OMIM:615500",
          "UMLS:C3809684"
        ],
        "synonyms": [
          "CFAP298 primary ciliary dyskinesia",
          "CILD26",
          "ciliary dyskinesia, primary, type 26",
          "primary ciliary dyskinesia caused by mutation in CFAP298",
          "primary ciliary dyskinesia type 26",
          "ciliary dyskinesia, primary, 26",
          "ciliary dyskinesia, primary, 26, with or 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 CFAP298 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014211"
    },
    {
      "id": 15221,
      "label": "primary ciliary dyskinesia 27",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110611",
          "GARD:0015976",
          "MEDGEN:816031",
          "OMIM:615504",
          "UMLS:C3809701"
        ],
        "synonyms": [
          "CCDC65 primary ciliary dyskinesia",
          "CILD27",
          "ciliary dyskinesia, primary, type 27",
          "primary ciliary dyskinesia caused by mutation in CCDC65",
          "primary ciliary dyskinesia type 27",
          "ciliary dyskinesia, primary, 27",
          "ciliary dyskinesia, primary, 27, 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 CCDC65 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014215"
    },
    {
      "id": 15222,
      "label": "primary ciliary dyskinesia 28",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110607",
          "GARD:0015977",
          "MEDGEN:816036",
          "OMIM:615505",
          "UMLS:C3809706"
        ],
        "synonyms": [
          "CILD28",
          "SPAG1 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 28",
          "primary ciliary dyskinesia caused by mutation in SPAG1",
          "primary ciliary dyskinesia type 28",
          "ciliary dyskinesia, primary, 28",
          "ciliary dyskinesia, primary, 28, with or 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 SPAG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014216"
    },
    {
      "id": 15380,
      "label": "primary ciliary dyskinesia 29",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110600",
          "GARD:0016025",
          "MEDGEN:862971",
          "NCIT:C172393",
          "OMIM:615872",
          "UMLS:C4014534"
        ],
        "synonyms": [
          "CCNO primary ciliary dyskinesia",
          "CILD29",
          "ciliary dyskinesia, primary, type 29",
          "primary ciliary dyskinesia caused by mutation in CCNO",
          "primary ciliary dyskinesia type 29",
          "ciliary dyskinesia, primary, 29",
          "ciliary dyskinesia, primary, 29, 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 CCNO gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014378"
    },
    {
      "id": 15464,
      "label": "primary ciliary dyskinesia 30",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110624",
          "GARD:0016052",
          "MEDGEN:863453",
          "OMIM:616037",
          "UMLS:C4015016"
        ],
        "synonyms": [
          "CCDC151 primary ciliary dyskinesia",
          "CILD30",
          "ciliary dyskinesia, primary, type 30",
          "primary ciliary dyskinesia caused by mutation in CCDC151",
          "primary ciliary dyskinesia type 30",
          "ciliary dyskinesia, primary, 30",
          "ciliary dyskinesia, primary, 30, with or 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 CCDC151 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014465"
    },
    {
      "id": 15652,
      "label": "primary ciliary dyskinesia 32",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110603",
          "GARD:0016122",
          "MEDGEN:896106",
          "OMIM:616481",
          "UMLS:C4225311"
        ],
        "synonyms": [
          "CILD32",
          "RSPH3 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, type 32",
          "primary ciliary dyskinesia caused by mutation in RSPH3",
          "primary ciliary dyskinesia type 32",
          "ciliary dyskinesia, primary, 32",
          "ciliary dyskinesia, primary, 32, 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 RSPH3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014657"
    },
    {
      "id": 15742,
      "label": "primary ciliary dyskinesia 33",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110619",
          "GARD:0016154",
          "MEDGEN:898734",
          "OMIM:616726",
          "UMLS:C4225230"
        ],
        "synonyms": [
          "CILD33",
          "GAS8 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, 33",
          "ciliary dyskinesia, primary, type 33",
          "primary ciliary dyskinesia caused by mutation in GAS8",
          "primary ciliary dyskinesia type 33",
          "ciliary dyskinesia, primary, 33, 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 GAS8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014750"
    },
    {
      "id": 15889,
      "label": "primary ciliary dyskinesia 34",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110610",
          "GARD:0016187",
          "MEDGEN:934689",
          "OMIM:617091",
          "UMLS:C4310722"
        ],
        "synonyms": [
          "CILD34",
          "DNAJB13 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, 34",
          "ciliary dyskinesia, primary, type 34",
          "primary ciliary dyskinesia caused by mutation in DNAJB13",
          "primary ciliary dyskinesia type 34",
          "ciliary dyskinesia, primary, 34, 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 DNAJB13 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014909"
    },
    {
      "id": 15890,
      "label": "primary ciliary dyskinesia 35",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110620",
          "GARD:0016188",
          "MEDGEN:934688",
          "OMIM:617092",
          "UMLS:C4310721"
        ],
        "synonyms": [
          "CILD35",
          "TTC25 primary ciliary dyskinesia",
          "ciliary dyskinesia, primary, 35",
          "ciliary dyskinesia, primary, type 35",
          "primary ciliary dyskinesia caused by mutation in TTC25",
          "primary ciliary dyskinesia type 35",
          "ciliary dyskinesia, primary, 35, with or 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 TTC25 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014910"
    },
    {
      "id": 21888,
      "label": "ciliary dyskinesia, primary, 46",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025542",
          "MEDGEN:1780196",
          "OMIM:619436",
          "UMLS:C5543646"
        ],
        "synonyms": [
          "CILD46",
          "ciliary dyskinesia, primary, 46"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030332"
    },
    {
      "id": 21896,
      "label": "ciliary dyskinesia, primary, 47, and lissencephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025546",
          "MEDGEN:1794161",
          "OMIM:619466",
          "UMLS:C5561951"
        ],
        "synonyms": [
          "CILD47",
          "ciliary dyskinesia, primary, 47, and lissencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030346"
    },
    {
      "id": 22211,
      "label": "ciliary dyskinesia, primary, 48, without situs inversus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025686",
          "MEDGEN:1823987",
          "OMIM:620032",
          "UMLS:C5774214"
        ],
        "synonyms": [
          "CILD48",
          "ciliary dyskinesia, primary, 48, without situs inversus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031054"
    },
    {
      "id": 22321,
      "label": "ciliary dyskinesia, primary, 39",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111854",
          "GARD:0025710",
          "MEDGEN:1648363",
          "OMIM:618254",
          "UMLS:C4748841"
        ],
        "synonyms": [
          "CILD39",
          "CILIARY DYSKINESIA, PRIMARY, 39",
          "Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032637"
    },
    {
      "id": 22344,
      "label": "ciliary dyskinesia, primary, 40",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111853",
          "GARD:0025717",
          "MEDGEN:1648365",
          "OMIM:618300",
          "UMLS:C4749028"
        ],
        "synonyms": [
          "CILD40",
          "CILIARY DYSKINESIA, PRIMARY, 40",
          "Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032664"
    },
    {
      "id": 22415,
      "label": "ciliary dyskinesia, primary, 41",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111858",
          "GARD:0016353",
          "MEDGEN:1680404",
          "OMIM:618449",
          "UMLS:C5193103"
        ],
        "synonyms": [
          "CILD41",
          "CILIARY DYSKINESIA, PRIMARY, 41"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032757"
    },
    {
      "id": 22524,
      "label": "ciliary dyskinesia, primary, 42",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111855",
          "GARD:0016373",
          "MEDGEN:1684665",
          "OMIM:618695",
          "UMLS:C5231464"
        ],
        "synonyms": [
          "CILD42",
          "CILIARY DYSKINESIA, PRIMARY, 42",
          "Ciliary Dyskinesia, Primary, 42, Without Situs Inversus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032872"
    },
    {
      "id": 22526,
      "label": "ciliary dyskinesia, primary, 43",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111856",
          "GARD:0025764",
          "MEDGEN:1684675",
          "OMIM:618699",
          "UMLS:C5231466"
        ],
        "synonyms": [
          "CILD43",
          "CILIARY DYSKINESIA, PRIMARY, 43",
          "Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032874"
    },
    {
      "id": 22566,
      "label": "ciliary dyskinesia, primary, 44",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111851",
          "GARD:0016380",
          "MEDGEN:1716408",
          "OMIM:618781",
          "UMLS:C5394063"
        ],
        "synonyms": [
          "CILD44",
          "CILIARY DYSKINESIA, PRIMARY, 44",
          "Ciliary Dyskinesia, Primary, 44, Without Situs Inversus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032914"
    },
    {
      "id": 22576,
      "label": "ciliary dyskinesia, primary, 45",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111857",
          "GARD:0016383",
          "MEDGEN:1714988",
          "OMIM:618801",
          "UMLS:C5394104"
        ],
        "synonyms": [
          "CILD45",
          "CILIARY DYSKINESIA, PRIMARY, 45",
          "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032924"
    },
    {
      "id": 22626,
      "label": "ciliary dyskinesia, primary, 37",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080266",
          "GARD:0016239",
          "MEDGEN:1615746",
          "OMIM:617577",
          "UMLS:C4539798"
        ],
        "synonyms": [
          "ciliary dyskinesia, primary, 37",
          "CILD37",
          "ciliary dyskinesia, primary, 37, with or without situs inversus",
          "primary ciliary dyskinesia 37"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033204"
    },
    {
      "id": 23642,
      "label": "ciliary dyskinesia, primary, 38",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111852",
          "GARD:0016288",
          "MEDGEN:1648465",
          "OMIM:618063",
          "UMLS:C4748052"
        ],
        "synonyms": [
          "CILD38",
          "ciliary dyskinesia, PRIMARY, 38",
          "ciliary dyskinesia, Primary, 38, with or without situs inversus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054843"
    },
    {
      "id": 24329,
      "label": "ciliary dyskinesia, primary, 54",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027290",
          "MEDGEN:1876504",
          "OMIM:621125",
          "UMLS:C6012704"
        ],
        "synonyms": [
          "CFAP54-related primary ciliary dyskinesia"
        ],
        "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 CFAP54 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100607"
    },
    {
      "id": 25480,
      "label": "ciliary dyskinesia, primary, 49, without situs inversus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026710",
          "MEDGEN:1824064",
          "OMIM:620197",
          "UMLS:C5774291"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859353"
    },
    {
      "id": 25624,
      "label": "ciliary dyskinesia, primary, 50",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026797",
          "MEDGEN:1841109",
          "OMIM:620356",
          "UMLS:C5830473"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957252"
    },
    {
      "id": 25661,
      "label": "ciliary dyskinesia, primary, 51",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026820",
          "MEDGEN:1841244",
          "OMIM:620438",
          "UMLS:C5830608"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957396"
    },
    {
      "id": 25772,
      "label": "ciliary dyskinesia, primary, 52",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026893",
          "MEDGEN:1852921",
          "OMIM:620570",
          "UMLS:C5882714"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957922"
    },
    {
      "id": 25787,
      "label": "ciliary dyskinesia, primary, 53",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026902",
          "MEDGEN:1851509",
          "OMIM:620642",
          "UMLS:C5882728"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957991"
    },
    {
      "id": 26568,
      "label": "CFAP46-related primary ciliary dyskinesia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028128"
        ],
        "synonyms": [
          "CFAP46-related primary ciliary dyskinesia"
        ],
        "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 CFAP46 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1010146"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6815,
      "label": "respiratory system disorder"
    },
    {
      "id": 7000,
      "label": "ciliopathy"
    }
  ]
}