Details of Disease

General Information of Disease (ID: DIS5ZYNG)

Disease Name Ciliary dyskinesia, primary, 51
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DIS5ZYNG: Ciliary dyskinesia, primary, 51
Disease Identifiers
MONDO ID
MONDO_0957396
UMLS CUI
C5830608
OMIM ID
620438
MedGen ID
1841244

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
BRWD1 OTOSRVDC Limited Autosomal recessive [1]
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References

1 A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):244-251. doi: 10.1038/s41591-019-0730-x. Epub 2020 Jan 20.