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Epidermolysis bullosa simplex 5B, with muscular dystrophy
rareA basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
- Identifiers
- MONDO:0009181 OMIM:226670Orphanet:257
- Part of
- PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorderAutosomal recessive limb-girdle muscular dystrophyEpidermolysis bullosa simplexNeuromuscular disease caused by qualitative or quantitative defects of plectinSyndromic disease
- Also known as
- EBS-MD · EBSMD · Epidermolysa bullosa simplex and limb girdle muscular dystrophy · Epidermolysa bullosa simplex with muscular dystrophy · epidermolysis bullosa simplex - limb girdle muscular dystrophy
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