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Recessive dystrophic epidermolysis bullosa, generalized intermediate

Disease definition

Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

ORPHA:89842

  • Synonym(s):
    • Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
    • Autosomal recessive dystrophic epidermolysis bullosa, generalized other
    • Generalized mitis RDEB
    • RDEB generalisata mitis
    • RDEB, generalized intermediate
    • RDEB, non-Hallopeau-Siemens type
    • RDEB-O
    • RDEB-generalized other
    • Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
    • Recessive dystrophic epidermolysis bullosa-generalized other
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 12794
  • MedDRA: -

Detailed information

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