Details of Disease

General Information of Disease (ID: DISHCL8F)

Disease Name Ciliary dyskinesia, primary, 38
Synonyms CILD38; ciliary dyskinesia, PRIMARY, 38; ciliary dyskinesia, Primary, 38, with or without situs inversus
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DISHCL8F: Ciliary dyskinesia, primary, 38
Disease Identifiers
MONDO ID
MONDO_0054843
UMLS CUI
C4748052
OMIM ID
618063
MedGen ID
1648465

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
CFAP300 OTJWZZIO 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.