primary ciliary dyskinesia 54

Term ID

DOID:0070767

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. https://pubmed.ncbi.nlm.nih.gov/37725231/

References

• MIM:621125
• UMLS_CUI:C6012704

Ontology

Human Disease   ( DOID:0070767 )