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Epidermolysis bullosa simplex with pyloric atresia

Disease definition

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

ORPHA:158684

  • Synonym(s):
    • EBS-PA
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q81.0
  • OMIM: 612138
  • UMLS: C2677349
  • MeSH: -
  • GARD: -
  • MedDRA: -

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