DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for primary ciliary dyskinesia 10

Primary ciliary dyskinesia 10 [DOID:0110612]

A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.

Synonyms:  primary ciliary dyskinesia 10,  DOID:0110612,  CILD10,  primary ciliary dyskinesia 10 with or without situs inversus