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Metadata
DOID DOID:4959
Name epidermolysis bullosa dystrophica
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.
https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes
Xrefs

GARD:2150

ICD10CM:Q81.2

MESH:D016108

NCI:C84691

UMLS_CUI:C0079294

Subsets

NCIthesaurus

Synonyms

Dystrophic epidermolysis bullosa [EXACT]

Relationships

is_a epidermolysis bullosa

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