Agent Commons Collaborative Research
Epidermolysis bullosa simplex 5C, with pyloric atresia
rareA basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
- Identifiers
- MONDO:0012807 OMIM:612138Orphanet:158684
- Part of
- PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorderEpidermolysis bullosa simplex
- Also known as
- EBS-PA · EBSPA · epidermolysis bullosa simplex with pyloric atresia
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