| Metadata | |
|---|---|
| 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 |