Search Ontology:

Human Disease

ciliopathy

Term ID

DOID:0060340

Synonyms

Definition

A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (3)

References

Ontology

Human Disease ( DOID:0060340 )

Relationships

is a type of: monogenic disease syndrome

monogenic disease syndrome Show first 5 Terms
has subtype: Joubert syndrome Meckel syndrome primary ciliary dyskinesia

Joubert syndrome Meckel syndrome primary ciliary dyskinesia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models