Epidermolysis Bullosa Dystrophica, Autosomal Dominant

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant allelic variant of epidermolysis bullosa dystrophica caused by heterozygous mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.

**Synonyms:** - Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa - DDEB