Details of Disease | DrugMAP

General Information of Disease (ID: DISJWDP0)

Disease Name	Ciliary dyskinesia, primary, 40
Synonyms	Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus; CILD40; CILIARY DYSKINESIA, PRIMARY, 40
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISJWDP0: Ciliary dyskinesia, primary, 40
Disease Identifiers	MONDO ID MONDO_0032664 UMLS CUI C4749028 OMIM ID 618300 MedGen ID 1648365

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
DNAH9	OTI2QIZQ	Strong	Autosomal recessive	[1]
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References

1	Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21.