| Term Name: | primary ciliary dyskinesia 54 |
|---|---|
| Synonyms: | CILD54 |
| Definition: | A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that has_material_basis_in compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. Some abnormalities of spermatozoa have been reported, but their effect on male fertility is unclear. |
| Ontology: | Human Disease [DOID:0070767] ( DOID:0070767 ) |