Search Ontology:
Human Disease

primary ciliary dyskinesia 51

Term ID
DOID:0070764
Synonyms
  • CILD51
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. https://pubmed.ncbi.nlm.nih.gov/33389130/
References
Ontology
Human Disease   ( DOID:0070764 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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