You are using an outdated browser. Please upgrade your browser to improve your experience.

epidermolysis bullosa simplex Dowling-Meara type

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
Uniprot Description A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.
Mondo Term and Equivalent IDs
MONDO:0007550:  epidermolysis bullosa simplex Dowling-Meara type
GARD:0002141: 
Orphanet:79396: 
SCTID:254179000: