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primary ciliary dyskinesia 12

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.
Uniprot Description A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Mondo Term and Equivalent IDs
MONDO:0012979:  primary ciliary dyskinesia 12
MESH:C567211: 
UMLS:C2675228: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found