Details of Disease | DrugMAP

General Information of Disease (ID: DISHGHV1)

Disease Name	Primary ciliary dyskinesia 10
Synonyms	ciliary dyskinesia, primary, 10; ciliary dyskinesia, primary, 10, with or without situs inversus; ciliary dyskinesia, primary, type 10; DNAAF2 primary ciliary dyskinesia; primary ciliary dyskinesia 10 with or without situs inversus; primary ciliary dyskinesia type 10; primary ciliary dyskinesia caused by mutation in DNAAF2; CILD10
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISHGHV1: Primary ciliary dyskinesia 10
Disease Identifiers	MONDO ID MONDO_0012918 MESH ID C567287 UMLS CUI C2675867 OMIM ID 612518 MedGen ID 382707

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
DNAAF2	OTB8YEJ5	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.