Details of Disease | DrugMAP

General Information of Disease (ID: DISJNMG2)

Disease Name	Primary ciliary dyskinesia 26
Synonyms	ciliary dyskinesia, primary, 26; ciliary dyskinesia, primary, 26, with or without situs inversus; ciliary dyskinesia, primary, type 26; primary ciliary dyskinesia type 26; CILD26; primary ciliary dyskinesia 26 with or without situs inversus; CFAP298 primary ciliary dyskinesia; primary ciliary dyskinesia caused by mutation in CFAP298
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISJNMG2: Primary ciliary dyskinesia 26
Disease Identifiers	MONDO ID MONDO_0014211 UMLS CUI C3809684 OMIM ID 615500 MedGen ID 816014

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
CFAP298	OTTDRT2N	Moderate	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.