Details of Disease

General Information of Disease (ID: DISP69YB)

Disease Name Primary ciliary dyskinesia 17
Synonyms
ciliary dyskinesia, primary, 17; ciliary dyskinesia, primary, 17, with or without situs inversus; primary ciliary dyskinesia 17; CILD17; primary ciliary dyskinesia caused by mutation in CCDC103; ciliary dyskinesia, primary, type 17; CCDC103 primary ciliary dyskinesia; primary ciliary dyskinesia 17 with or without situs inversus; primary ciliary dyskinesia type 17
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DISP69YB: Primary ciliary dyskinesia 17
Disease Identifiers
MONDO ID
MONDO_0013854
UMLS CUI
C3542550
OMIM ID
614679
MedGen ID
762261

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
CCDC103 OTWGXYEF 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.