Version: 8.0.0
Date: Tue Jan 28 2025
primary ciliary dyskinesia 45
DOID:0111857
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

primary ciliary dyskinesia 45

Definition
A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2.
Synonyms
  • CILD45
  • primary ciliary dyskinesia 45 without situs inversus
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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