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Congenital erythropoietic porphyria

Disease definition

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.


Classification level: Disorder
  • Synonym(s):
    • CEP
    • Günther disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E80.0
  • OMIM: 263700
  • UMLS: -
  • MeSH: -
  • GARD: 4446
  • MedDRA: -

Detailed information


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