Search Ontology:
Human Disease

primary ciliary dyskinesia 49

Term ID
DOID:0070762
Synonyms
  • CILD49
Definition
A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_material_basis_in compound heterozygous mutation in the CFAP74 gene on chromosome 1p36. Situs abnormalities have not been reported. (3)
References
Ontology
Human Disease   ( DOID:0070762 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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