Details of Disease

General Information of Disease (ID: DISG6EAW)

Disease Name Primary ciliary dyskinesia 20
Synonyms
ciliary dyskinesia, primary, 20, with or without situs inversus; ciliary dyskinesia, primary, 20; primary ciliary dyskinesia type 20; primary ciliary dyskinesia 20 with or without situs inversus; primary ciliary dyskinesia caused by mutation in CCDC114; ciliary dyskinesia, primary, type 20; CCDC114 primary ciliary dyskinesia; CILD20
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DISG6EAW: Primary ciliary dyskinesia 20
Disease Identifiers
MONDO ID
MONDO_0014030
UMLS CUI
C3540844
OMIM ID
615067
MedGen ID
761920

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
ODAD1 OT5N7P0Y Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.