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primary ciliary dyskinesia 34

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 DNAJB13 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. CILD34 inheritance is autosomal recessive.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13.
Mondo Term and Equivalent IDs
MONDO:0014909:  primary ciliary dyskinesia 34
UMLS:C4310722: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)