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nonepidermolytic palmoplantar keratoderma

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


Mondo Description Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.
Disease Ontology Description A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
Mondo Term and Equivalent IDs
MONDO:0006588:  nonepidermolytic palmoplantar keratoderma
EFO:1000743: 
Orphanet:2337: 
SCTID:716105001: