primary ciliary dyskinesia 12

Term ID

DOID:0110601

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. https://www.ncbi.nlm.nih.gov/pubmed/19200523

References

• ICD10CM:Q34.8
• OMIM:612650

Ontology

Human Disease   ( DOID:0110601 )