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Disease Ontology Browser
primary ciliary dyskinesia 55 (DOID:0061226)
Alliance: disease page
Synonyms: Azoospermia-sinopulmonary infections syndrome; Sinusitis-infertility syndrome; young syndrome
Alt IDs: OMIM:279000, ORDO:3471
Definition: A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14.


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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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last database update
01/28/2026
MGI 6.24
The Jackson Laboratory