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Disease Ontology Browser
primary ciliary dyskinesia 50 (DOID:0070763)
Alliance: disease page
Synonyms: CILD50
Alt IDs: OMIM:620356, UMLS_CUI:C5830473
Definition: A primary ciliary dyskinesia characterized by chronic sinusitis, bronchitis, and male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella resulting from defects or loss of the inner dynein arms of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32.


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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last database update
07/14/2026
MGI 6.24
The Jackson Laboratory