Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.
Uniprot Description A form of primary ciliary dyskinesia, 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. CILD33 inheritance is autosomal recessive.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.
Mondo Term and Equivalent IDs
MONDO:0014750: primary ciliary dyskinesia 33