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primary ciliary dyskinesia 35

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 TTC25 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. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD35 inheritance is autosomal recessive.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21.
Mondo Term and Equivalent IDs
MONDO:0014910:  primary ciliary dyskinesia 35
UMLS:C4310721: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)