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Disease Ontology Browser
primary ciliary dyskinesia 46 (DOID:0070758)
Alliance: disease page
Synonyms: CILD46
Alt IDs: OMIM:619436, UMLS_CUI:C5543646
Definition: A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. 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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Send questions and comments to User Support. 		last database update
07/14/2026
MGI 6.24 		The Jackson Laboratory