primary ciliary dyskinesia

Summary
Synonym
  • ciliary motility disorder
  • immotile ciliary syndrome
Definition
A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
Super Class
ciliopathy
External Links
Disease Ontology
DOID:9562
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
57104 PNPLA2 patatin like phospholipase domain containing 2
79966 SCD5 stearoyl-CoA desaturase 5
83666 PARP9 poly(ADP-ribose) polymerase family member 9

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024