loading...| Preferred Name |
primary ciliary dyskinesia |
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| Synonyms |
PCD ciliary motility disorder Kartagener syndrome Kartagener's syndrome immotile ciliary syndrome bronchiectasis, chronic sinusitis and dextrocardia syndrome ciliary dyskinesia primary Primary ciliary dyskinesia and situs inversus Dextrocardia-bronchiectasis-sinusitis syndrome Siewert syndrome ICS Primary ciliary dyskinesia, Kartagener type Dextrocardia bronchiectasis and sinusitis Immotile cilia syndrome, Kartagener type |
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| Definitions |
Editor note: we deliberately merge two MESHes here 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). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016575 |
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| comment |
Editor note: we deliberately merge two MESHes here |
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| has characteristic | ||
| has_exact_synonym |
PCD ciliary motility disorder Kartagener syndrome Kartagener's syndrome immotile ciliary syndrome |
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| has_related_synonym |
bronchiectasis, chronic sinusitis and dextrocardia syndrome ciliary dyskinesia primary Primary ciliary dyskinesia and situs inversus Dextrocardia-bronchiectasis-sinusitis syndrome Siewert syndrome ICS Primary ciliary dyskinesia, Kartagener type Dextrocardia bronchiectasis and sinusitis Immotile cilia syndrome, Kartagener type |
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| label |
primary ciliary dyskinesia |
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| prefixIRI |
MONDO:0016575 |
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| prefLabel |
primary ciliary dyskinesia |
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| textual 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). |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005308 |