Details of Disease

General Information of Disease (ID: DIS23D7P)

Disease Name Primary ciliary dyskinesia 27
Synonyms
ciliary dyskinesia, primary, 27, without situs inversus; ciliary dyskinesia, primary, 27; CILD27; primary ciliary dyskinesia 27 without situs inversus; CCDC65 primary ciliary dyskinesia; ciliary dyskinesia, primary, type 27; primary ciliary dyskinesia type 27; primary ciliary dyskinesia caused by mutation in CCDC65
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DIS23D7P: Primary ciliary dyskinesia 27
Disease Identifiers
MONDO ID
MONDO_0014215
UMLS CUI
C3809701
OMIM ID
615504
MedGen ID
816031

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCDC65 OTLK1420 Strong Autosomal recessive [1]
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References

1 CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One. 2013 Aug 26;8(8):e72299. doi: 10.1371/journal.pone.0072299. eCollection 2013.