Details of Disease

General Information of Disease (ID: DIS0JR60)

Disease Name Focal palmoplantar keratoderma with joint keratoses
Disease Hierarchy
DISGLKBI: Focal palmoplantar keratoderma
DIS0JR60: Focal palmoplantar keratoderma with joint keratoses
Disease Identifiers
MONDO ID
MONDO_0018252
UMLS CUI
C4755302
MedGen ID
1667811
Orphanet ID
370002
SNOMED CT ID
778051008

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
DSG1 OT11HC3A Supportive Autosomal dominant [1]
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References

1 Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology. 2006;212(2):117-22. doi: 10.1159/000090651.