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ciliopathy

Disease Summary
Associated Targets (146)
Tbio

127

Tdark

15

Tchem

3

Tclin

1


Explore Associated Targets
Mondo Description A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Disease Ontology Description A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
Mondo Term and Equivalent IDs
MONDO:0005308:  ciliopathy
DOID:0060340: ciliopathy
EFO:0003900: 
Orphanet:363250: 
UMLS:CN580792: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)