Disease-gene associations mined from literature

Human genes for primary ciliary dyskinesia 2

Primary ciliary dyskinesia 2 [DOID:0110626]

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.

Synonyms:  primary ciliary dyskinesia 2,  DOID:0110626,  CILD2,  primary ciliary dyskinesia 2 with or without situs inversus