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DO Term : epidermolysis bullosa dystrophica [DOID:4959] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:254185007,
  • GARD:2150,
  • UMLS_CUI:C0079294,
  • MESH:D016108,
  • ICD10CM:Q81.2,
  • Dystrophic epidermolysis bullosa,
  • NCI:C84691
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