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Metadata
DOID DOID:2730
Name epidermolysis bullosa
Definition 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.
https://rarediseases.org/rare-diseases/epidermolysis-bullosa/
Xrefs

CSP2005:0726-9169

GARD:6359

ICD10CM:Q81

ICD10CM:Q81.9

MESH:D004820

NCI:C67383

SNOMEDCT_US_2018_03_01:61003004

UMLS_CUI:C0014527

Subsets

NCIthesaurus

Synonyms

acantholysis bullosa [EXACT]

Epidermolysis bullosa [EXACT]

Relationships

is_a vesiculobullous skin disease

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