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Summary Literature (18)
DOID:9562 - primary ciliary dyskinesia


Disease Ontology Definition:A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.

Synonyms: ciliary motility disorder, immotile ciliary syndrome

Xenbase Genes : spag1, foxj1, dnah5, dnai2, odad3, foxj1.2, dnah1, ccdc103, cfap300, dnaaf11, dnah11, dnaaf4, gas2l2, zmynd10, gas8, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016575 - primary ciliary dyskinesia


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

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