Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 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. Situs inversus is not observed in CILD24 patients.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.
Mondo Term and Equivalent IDs
MONDO:0014202: primary ciliary dyskinesia 24