primary ciliary dyskinesia 12 (DOID:0110601)
Alliance: disease page
Synonyms: CILD12; primary ciliary dyskinesia 12 without situs inversus
Alt IDs: OMIM:612650, ICD10CM:Q34.8
Definition: A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.