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Human Disease

primary ciliary dyskinesia 14

Term ID
DOID:0110598
Synonyms
  • CILD14
  • primary ciliary dyskinesia 14 with or without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (2)
References
Ontology
Human Disease   ( DOID:0110598 )
Relationships
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Genes Involved
Zebrafish Models