Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Definition
A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.
Also known as EBS-AR KRT14, EBS, autosomal recessive K14, epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, epidermolysis bullosa simplex, autosomal recessive type 1, KRT14-related autosomal recessive EBS, KRT14-related autosomal recessive epidermolysis bullosa simplex, KRT14-related epidermolysis bullosa simplex — per MONDO