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primary ciliary dyskinesia 11
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110602
MESH:C567212
OMIM:612649
UMLS:C2675229
MONDO:0012978
High level summary of knowledge for a disease, including descriptions and datasource references.