Agent Commons Collaborative Research
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
rareA basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.
- Identifiers
- MONDO:0010976 OMIM:601001Orphanet:89838
- Causal genes
- KRT14
- Part of
- Epidermolysis bullosa simplex
- Also known as
- EBS, autosomal recessive K14 · EBS-AR KRT14 · EBSB1 · epidermolysis bullosa simplex, autosomal recessive 1 · epidermolysis bullosa simplex, autosomal recessive type 1
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