Details of Disease | DrugMAP

General Information of Disease (ID: DIS1WHQV)

Disease Name	Primary ciliary dyskinesia 23
Synonyms	ciliary dyskinesia, primary, 23; ciliary dyskinesia, primary, 23, with or without situs inversus; ciliary dyskinesia, primary, type 23; CILD23; ARMC4 primary ciliary dyskinesia; primary ciliary dyskinesia type 23; primary ciliary dyskinesia 23 with or without situs inversus; primary ciliary dyskinesia caused by mutation in ARMC4
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DIS1WHQV: Primary ciliary dyskinesia 23
Disease Identifiers	MONDO ID MONDO_0014193 UMLS CUI C3809548 OMIM ID 615451 MedGen ID 815878

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
ODAD2	OTTC397T	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.