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Epidermolysis bullosa simplex with mottled pigmentation

Disease definition

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.

ORPHA:79397

Classification level: Disorder
  • Synonym(s):
    • EBS-MP
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.0
  • OMIM: 131960
  • UMLS: C0432316
  • MeSH: C535959
  • GARD: 9737
  • MedDRA: -

Detailed information

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