About   Help   FAQ
Disease Ontology Browser
primary ciliary dyskinesia 54 (DOID:0070767)
Alliance: disease page
Synonyms: CILD54
Alt IDs: OMIM:621125, UMLS_CUI:C6012704
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
07/14/2026
MGI 6.24 		The Jackson Laboratory