FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term epidermolysis bullosa dystrophica ID (Ontology) DOID:4959 (Human Disease)
Definition 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.
Also Known As "Dystrophic epidermolysis bullosa"
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  vesiculobullous skin disease
   |__epidermolysis bullosa
       |__epidermolysis bullosa dystrophica
           |__autosomal dominant dystrophic epidermolysis bullosa
           |   |__epidermolysis bullosa with congenital localized absence of skin and deformity of nails
           |__pretibial dystrophic epidermolysis bullosa
           |__recessive dystrophic epidermolysis bullosa
           |__transient bullous dermolysis of the newborn
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Synonyms
  • "Dystrophic epidermolysis bullosa" EXACT
Secondary IDs
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GARD:2150
ICD10CM:Q81.2
MESH:D016108
NCI:C84691
SNOMEDCT_US_2023_03_01:254185007
UMLS_CUI:C0079294