Details of Disease

General Information of Disease (ID: DISWZUW5)

Disease Name Primary ciliary dyskinesia 30
Synonyms
ciliary dyskinesia, primary, 30; ciliary dyskinesia, primary, 30, with or without situs inversus; primary ciliary dyskinesia type 30; primary ciliary dyskinesia caused by mutation in CCDC151; CILD30; ciliary dyskinesia, primary, type 30; primary ciliary dyskinesia 30 without situs inversus; CCDC151 primary ciliary dyskinesia
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DISWZUW5: Primary ciliary dyskinesia 30
Disease Identifiers
MONDO ID
MONDO_0014465
UMLS CUI
C4015016
OMIM ID
616037
MedGen ID
863453

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
ODAD3 OT30XE9U 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.