CILD2primary ciliary dyskinesia 2 with or without situs inversus
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.