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DO Term : epidermolysis bullosa [DOID:2730] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
  • synonyms:
  • acantholysis bullosa,
  • GARD:6359,
  • SNOMEDCT_US_2023_03_01:205580008,
  • ICD10CM:Q81,
  • UMLS_CUI:C0014527,
  • NCI:C67383,
  • MESH:D004820
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