Details of Disease

General Information of Disease (ID: DIS521VO)

Disease Name Olmsted syndrome 2
Synonyms palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2; OLMS2; Olmsted syndrome 2
Disease Hierarchy
DISB4C35: Olmsted syndrome
DIS521VO: Olmsted syndrome 2
Disease Identifiers
MONDO ID
MONDO_0030961
UMLS CUI
C5543096
OMIM ID
619208
MedGen ID
1779902

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
PERP OTP0YL53 Strong Autosomal dominant [1]
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References

1 Perp is a p63-regulated gene essential for epithelial integrity. Cell. 2005 Mar 25;120(6):843-56. doi: 10.1016/j.cell.2005.01.008.