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Epidermolysis bullosa simplex, autosomal recessive K14

Disease definition

Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.

ORPHA:89838

Classification level: Disorder
  • Synonym(s):
    • EBS, autosomal recessive K14
    • EBS-AR KRT14
    • KRT14-related autosomal recessive EBS
    • KRT14-related autosomal recessive epidermolysis bullosa simplex
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.0
  • OMIM: 601001
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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