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Disease Ontology Browser
primary ciliary dyskinesia 51 (DOID:0070764)
Alliance: disease page
Synonyms: CILD51
Alt IDs: OMIM:620438, UMLS_CUI:C5830608
Definition: A primary ciliary dyskinesia characterized by male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella, chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections that has_material_basis_in homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22. Situs abnormalities have 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