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Summary Literature (40)
DOID:0060340 - ciliopathy

Disease Ontology Definition:A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.


Xenbase Genes : pde6d, nphp1, nphp3, spag1, foxj1, dnah5, dnai2, odad3, foxj1.2, dnah1, ccdc103, cfap300, dnaaf11, pibf1, dnah11, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0005308 - ciliopathy

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

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