CILIARY DYSKINESIA, PRIMARY, 30
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 9 |
OrphanetNr: | |
OMIM Id: |
616037
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0004469) | Chronic bronchitis | 17 / 7739 | ||||
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(HPO:0100582) | Nasal polyposis | 14 / 7739 | ||||
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(HPO:0000403) | Recurrent otitis media | 61 / 7739 | ||||
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(HPO:0001696) | Situs inversus totalis | 44 / 7739 | ||||
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(HPO:0200073) | Respiratory insufficiency due to defective ciliary clearance | 10 / 7739 | ||||
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(HPO:0012265) | Ciliary dyskinesia | 32 / 7739 | ||||
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(HPO:0002110) | Bronchiectasis | 73 / 7739 | ||||
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(HPO:0002099) | Asthma | 62 / 7739 | ||||
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(HPO:0012735) | Cough | 24 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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