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primary ciliary dyskinesia 32
Disease Summary
Associated Targets (1)
Tdark
1
Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 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.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110603
OMIM:616481
UMLS:C4225311
MONDO:0014657
High level summary of knowledge for a disease, including descriptions and datasource references.