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Echinobase
Summary Literature (0)
DOID:0060340 - ciliopathy

Disease Ontology Definition:A syndrome 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), monogenic disease (is_a), syndrome (is_a)