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ciliopathy
Disease Summary
Associated Targets (149)
Tbio
132
Tdark
13
Tchem
3
Tclin
1
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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060340
EFO:0003900
Orphanet:363250
UMLS:CN580792
MONDO:0005308
High level summary of knowledge for a disease, including descriptions and datasource references.