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localized epidermolysis bullosa simplex

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
Uniprot Description A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.
Mondo Term and Equivalent IDs
MONDO:0007551:  localized epidermolysis bullosa simplex
DOID:0080510: 
GARD:0002146: 
Orphanet:79400: 
SCTID:294705005: