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primary ciliary dyskinesia 27

Disease Summary
Associated Targets (1)
Tdark

1


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Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.
Mondo Term and Equivalent IDs
MONDO:0014215:  primary ciliary dyskinesia 27
UMLS:C3809701: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)