Details of Disease

General Information of Disease (ID: DIS3LOEP)

Disease Name Primary ciliary dyskinesia 29
Synonyms
ciliary dyskinesia, primary, 29; ciliary dyskinesia, primary, 29, without situs inversus; CILD29; primary ciliary dyskinesia caused by mutation in CCNO; primary ciliary dyskinesia type 29; primary ciliary dyskinesia 29 without situs inversus; CCNO primary ciliary dyskinesia; ciliary dyskinesia, primary, type 29
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DIS3LOEP: Primary ciliary dyskinesia 29
Disease Identifiers
MONDO ID
MONDO_0014378
UMLS CUI
C4014534
OMIM ID
615872
MedGen ID
862971

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
CCNO OT68CH0B 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.