Details of Disease | DrugMAP

General Information of Disease (ID: DISDKWSQ)

Disease Name	Primary ciliary dyskinesia 18
Synonyms	ciliary dyskinesia, primary, 18; ciliary dyskinesia, primary, 18, with or without situs inversus; primary ciliary dyskinesia 18 with or without situs inversus; ciliary dyskinesia, primary, type 18; primary ciliary dyskinesia type 18; DNAAF5 primary ciliary dyskinesia; CILD18; primary ciliary dyskinesia caused by mutation in DNAAF5
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISDKWSQ: Primary ciliary dyskinesia 18
Disease Identifiers	MONDO ID MONDO_0013940 UMLS CUI C3543825 OMIM ID 614874 MedGen ID 762331

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
DNAAF5	OTN0CT52	Strong	Autosomal recessive	[1]
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References

1	Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. Hum Mutat. 2014 Apr;35(4):434-41. doi: 10.1002/humu.22490.