Details of Disease

General Information of Disease (ID: DIS7OOQT)

Disease Name Primary ciliary dyskinesia 12
Synonyms
ciliary dyskinesia, primary, 12; ciliary dyskinesia, primary, 12, without situs inversus; CILD12; primary ciliary dyskinesia 12 without situs inversus; RSPH9 primary ciliary dyskinesia; primary ciliary dyskinesia type 12; primary ciliary dyskinesia caused by mutation in RSPH9; ciliary dyskinesia, primary, type 12
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DIS7OOQT: Primary ciliary dyskinesia 12
Disease Identifiers
MONDO ID
MONDO_0012979
MESH ID
C567211
UMLS CUI
C2675228
OMIM ID
612650
MedGen ID
436379

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
RSPH9 OTRAK1LK 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.