Details of Disease | DrugMAP

General Information of Disease (ID: DIS39GX2)

Disease Name	Primary ciliary dyskinesia 7
Synonyms	ciliary dyskinesia, primary, 7, with or without situs inversus; ciliary dyskinesia, primary, 7; CILD7; primary ciliary dyskinesia caused by mutation in DNAH11; primary ciliary dyskinesia type 7; DNAH11 primary ciliary dyskinesia; primary ciliary dyskinesia 7 with or without situs inversus; ciliary dyskinesia, primary, type 7; primary ciliary dyskinesia 7
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DIS39GX2: Primary ciliary dyskinesia 7
Disease Identifiers	MONDO ID MONDO_0012748 MESH ID C567504 UMLS CUI C2678473 OMIM ID 611884 MedGen ID 394834

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
DNAH11	OT6IYFVV	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.