Details of Disease

General Information of Disease (ID: DIS2TPN4)

Disease Name Ritscher-Schinzel syndrome 4
Synonyms Ritscher-Schinzel syndrome 4; RTSC4
Disease Hierarchy
DIS5TSUC: Ritscher-Schinzel syndrome
DIS2TPN4: Ritscher-Schinzel syndrome 4
Disease Identifiers
MONDO ID
MONDO_0030331
UMLS CUI
C5561939
OMIM ID
619435
MedGen ID
1794149

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
DPYSL5 OT6F9T6F Strong Autosomal dominant [1]
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References

1 Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.