Metadata | |
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ID | 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 |
SNOMEDCT_US_2023_03_01:205580008 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
acantholysis bullosa [EXACT] |
Parent Relationships |