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Disease Ontology Browser
primary ciliary dyskinesia 41 (DOID:0111858)
Alliance: disease page
Synonyms: CILD41
Alt IDs: OMIM:618449
Definition: A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.

Disease References using Mouse Models (1)
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)
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Send questions and comments to User Support. 		last database update
01/28/2026
MGI 6.24 		The Jackson Laboratory