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Disease Ontology Browser
primary ciliary dyskinesia 49 (DOID:0070762)
Alliance: disease page
Synonyms: CILD49
Alt IDs: OMIM:620197, UMLS_CUI:C5774291
Definition: A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_material_basis_in compound heterozygous mutation in the CFAP74 gene on chromosome 1p36. Situs abnormalities have not been reported.

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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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07/14/2026
MGI 6.24 		The Jackson Laboratory