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Human Disease

primary ciliary dyskinesia 55

Term ID
DOID:0061226
Synonyms
  • Azoospermia-sinopulmonary infections syndrome
  • Sinusitis-infertility syndrome
  • young syndrome
Definition
A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14. (2)
References
Ontology
Human Disease   ( DOID:0061226 )
Relationships
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Genes Involved
Zebrafish Models