Visualize Submit Comment
Metadata
ID DOID:0110601
Name primary ciliary dyskinesia 12
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
Xrefs

ICD10CM:Q34.8

OMIM:612650

Synonyms

CILD12 [EXACT]

primary ciliary dyskinesia 12 without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

Add an item to the term tracker