Term Name: | primary ciliary dyskinesia 12 |
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Synonyms: | CILD12, primary ciliary dyskinesia 12 without situs inversus |
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. |
Ontology: | Human Disease [DOID:0110601] ( DOID:0110601 ) |