Term Name:
ciliopathy
Synonyms:
Definition:
A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
Ontology:
Human Disease [DOID:0060340] (
DOID:0060340
)
Relationships
is a type of:
monogenic disease
syndrome
has subtype:
Joubert syndrome
Meckel syndrome
primary ciliary dyskinesia