Search Ontology:
Human Disease

primary ciliary dyskinesia 48

Term ID
DOID:0070761
Synonyms
  • CILD48
Definition
A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis_in homozygous mutation in the NME5 gene on chromosome 5q31. Situs abnormalities have not been reported. (2)
References
Ontology
Human Disease   ( DOID:0070761 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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