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Summary Literature (0)
DOID:0110601 - primary ciliary dyskinesia 12

Disease Ontology 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.

Synonyms: CILD12, primary ciliary dyskinesia 12 without situs inversus

Xenbase Genes : rsph9

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012979 - primary ciliary dyskinesia 12


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): primary ciliary dyskinesia (is_a)