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        "slug": "primary-ciliary-dyskinesia",
        "name": "Primär ciliär dyskinesi",
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            "mondoId": "MONDO:0016575",
            "name": "Primär ciliär dyskinesi",
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            "inheritance": "autosomal-recessive",
            "description": "En sällsynt, genetiskt heterogen sjukdom som främst påverkar luftvägarna och kännetecknas av kronisk sjukdom i de övre och nedre luftvägarna. Ungefär hälften av PCD-patienterna har en lateralitetsdefekt i organen (situs inversus totalis eller situs ambiguus/heterotaxi).",
            "management": null,
            "evidence": {
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              "clingen": "Strong",
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              "inheritance": [
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            "sameAsReport": true,
            "broad": false
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        ],
        "url": "https://dantelabs.com/sv/conditions/primary-ciliary-dyskinesia"
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    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
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        "slug": "abnormal-sperm-axoneme-morphology",
        "name": "Abnormal sperm axoneme morphology",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-sperm-axoneme-morphology"
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      {
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        "url": "https://dantelabs.com/traits/absent-sperm-flagella"
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/asthma"
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        "name": "Coiled sperm flagella",
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coiled-sperm-flagella"
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      {
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        "name": "Irregularly shaped sperm tail",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irregularly-shaped-sperm-tail"
      },
      {
        "slug": "low-semen-volume",
        "name": "Low semen volume",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-semen-volume"
      },
      {
        "slug": "oligozoospermia",
        "name": "Low sperm count",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oligozoospermia"
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      {
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        "name": "Male infertility",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "atelectasis",
        "name": "Partial or complete collapse of part or entire lung",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atelectasis"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
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          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "recurrent-bronchitis",
        "name": "Recurrent bronchitis",
        "systems": [
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          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bronchitis"
      },
      {
        "slug": "reduced-progressive-sperm-motility",
        "name": "Reduced progressive sperm motility",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-progressive-sperm-motility"
      },
      {
        "slug": "reduced-sperm-motility",
        "name": "Reduced sperm motility",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-sperm-motility"
      },
      {
        "slug": "short-sperm-flagella",
        "name": "Short sperm flagella",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-sperm-flagella"
      },
      {
        "slug": "productive-cough",
        "name": "Wet cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/productive-cough"
      }
    ],
    "related": [
      {
        "slug": "ccdc39",
        "symbol": "CCDC39",
        "name": "coiled-coil domain 39 molecular ruler complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ccdc39"
      },
      {
        "slug": "ccdc40",
        "symbol": "CCDC40",
        "name": "coiled-coil domain 40 molecular ruler complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ccdc40"
      },
      {
        "slug": "ccno",
        "symbol": "CCNO",
        "name": "cyclin O",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ccno"
      },
      {
        "slug": "cenpf",
        "symbol": "CENPF",
        "name": "centromere protein F",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cenpf"
      },
      {
        "slug": "cfap20dc",
        "symbol": "CFAP20DC",
        "name": "CFAP20 domain containing",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cfap20dc"
      },
      {
        "slug": "cfap221",
        "symbol": "CFAP221",
        "name": "cilia and flagella associated protein 221",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cfap221"
      },
      {
        "slug": "cfap298",
        "symbol": "CFAP298",
        "name": "cilia and flagella associated protein 298",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cfap298"
      },
      {
        "slug": "cfap300",
        "symbol": "CFAP300",
        "name": "cilia and flagella associated protein 300",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cfap300"
      },
      {
        "slug": "clxn",
        "symbol": "CLXN",
        "name": "calaxin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/clxn"
      },
      {
        "slug": "daw1",
        "symbol": "DAW1",
        "name": "dynein assembly factor with WD repeats 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/daw1"
      },
      {
        "slug": "dnaaf1",
        "symbol": "DNAAF1",
        "name": "dynein axonemal assembly factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dnaaf1"
      },
      {
        "slug": "dnaaf11",
        "symbol": "DNAAF11",
        "name": "dynein axonemal assembly factor 11",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dnaaf11"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}