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primary ciliary dyskinesia 1

Disease Summary
Associated Targets (27)




Explore Associated Targets
Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.
Uniprot Description An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).
Mondo Term and Equivalent IDs
MONDO:0009484:  primary ciliary dyskinesia 1
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found