About   Help   FAQ
Disease Ontology Browser
primary ciliary dyskinesia 48 (DOID:0070761)
Alliance: disease page
Synonyms: CILD48
Alt IDs: OMIM:620032, UMLS_CUI:C5774214
Definition: A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis_in homozygous mutation in the NME5 gene on chromosome 5q31. Situs abnormalities have not been reported.

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