Epidermolysis Bullosa Dystrophica, Autosomal Recessive

**Semantic type:** Disease or Syndrome

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

**Synonyms:** - Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa - RDEB - Recessive Dystrophic Epidermolysis Bullosa