| 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 |
CSP2005:0726-9169 SNOMEDCT_US_2018_03_01:61003004 UMLS_CUI:C0014527 |
| Subsets |
NCIthesaurus |
| Synonyms |
acantholysis bullosa [EXACT] Epidermolysis bullosa [EXACT] |
| Parent Relationships |