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.
Mondo Term and Equivalent IDs
MONDO:0014657: primary ciliary dyskinesia 32