primary ciliary dyskinesia

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Echinobase

Summary

Literature (0)

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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rsph1, ccdc39, dnai2, dnaaf5, dnaaf3, cfap298, rsph9, dnal1, zmynd10, drc1, armc4, spag1, ccdc103, dnah5, dnai1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): ciliopathy (is_a)