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primary ciliary dyskinesia 12
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 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.
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:0110601
MESH:C567211
OMIM:612650
UMLS:C2675228
MONDO:0012979
High level summary of knowledge for a disease, including descriptions and datasource references.