Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive (EBS1D)

Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive, also known as epidermolysis bullosa simplex, autosomal recessive 1, is related to epidermolysis bullosa simplex generalized type and epidermolysis bullosa, and has symptoms including pachyonychia An important gene associated with Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive is KRT14 (Keratin 14), and among its related pathways/superpathways are Cell junction organization and Keratinization. Affiliated tissues include skin, and related phenotypes are abnormal blistering of the skin and stratum basale cleavage