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epidermolysis bullosa simplex with mottled pigmentation

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.
Uniprot Description A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules.
Mondo Term and Equivalent IDs
MONDO:0007556:  epidermolysis bullosa simplex with mottled pigmentation
DOID:0111346: 
GARD:0009737: 
MESH:C535959: 
Orphanet:79397: 
SCTID:254180002: