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primary ciliary dyskinesia 29

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO 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. CILD29 patients do not exhibit situs inversus, a congenital abnormality in which visceral organs are opposite to their normal positions (situs solitus) due to lateral transposition.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
Mondo Term and Equivalent IDs
MONDO:0014378:  primary ciliary dyskinesia 29
UMLS:C4014534: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)