Epidermolysis bullosa simplex 5B, with muscular dystrophy

Definition

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.

Also known as EBS-MD, epidermolysis bullosa simplex 5B, with muscular dystrophy, epidermolysis bullosa simplex and limb-girdle muscular dystrophy, epidermolysis bullosa simplex with muscular dystrophy, limb-girdle muscular dystrophy with epidermolysis bullosa simplex — per MONDO

Also identified as

• DOID 0090017 per MONDO
• MESH C535955 per MONDO
• OMIM 226670 per MONDO
• Orphanet 257 per MONDO
• SCTID 723308003 per MONDO
• UMLS C2931072 per MONDO