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epidermolysis bullosa simplex

Disease Summary
Associated Targets (11)
Tbio

11


GARD Rare
Mondo Description Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
Disease Ontology Description An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.
Mondo Term and Equivalent IDs
MONDO:0017610:  epidermolysis bullosa simplex
GARD:0010752: 
ICD10:Q81.0: 
MESH:D016110: 
NCIT:C84692: 
Orphanet:304: 
SCTID:67144006: 
UMLS:C0079298: