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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.
Synonyms:
Echinobase Genes : rsph1, ahi1, ccdc39, cspp1, dnai2, dnaaf5, pde6d, cep290, tmem138, mks1, dnaaf3, cfap298, arl13b, cplane1, rsph9,
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
genetic disease (is_a)