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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:
Xenbase Genes
:
pde6d,
nphp1,
nphp3,
spag1,
foxj1,
dnah5,
dnai2,
odad3,
foxj1.2,
dnah1,
ccdc103,
cfap300,
dnaaf11,
pibf1,
dnah11,
| MONDO:0005308 - ciliopathy |
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)