ciliopathy
A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Also appears inpride
Exact Synonyms
Cilia Syndrome, Immotile
Cilia Syndromes, Immotile
Ciliary Dyskinesia
Ciliary Dyskinesias
CILIARY MOTILITY DIS
Ciliary Motility Disorder
Ciliary Motility Disorders
ciliopathy
Disorder, Ciliary Motility
Disorders, Ciliary Motility
Dyskinesia, Ciliary
Dyskinesias, Ciliary
Immotile Cilia Syndrome
Immotile Cilia Syndromes
Syndrome, Immotile Cilia
Syndromes, Immotile Cilia
Related Synonyms
ciliopathies
class Information
curated_content_resource
https://search.clinicalgenome.org/kb/conditions/MONDO:0005308
gwas_trait
true
has exact match
has_dbxref
in_subset
term editor
Tomasz Adamusiak
class Relations
Equivalent to