| Preferred Name |
epidermolysis bullosa |
| Synonyms |
acantholysis bullosa |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_2730 |
| database_cross_reference |
NCI:C67383 GARD:6359 ICD10CM:Q81 SNOMEDCT_US_2022_09_01:205580008 MESH:D004820 UMLS_CUI:C0014527 |
| 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. |
| has exact synonym |
acantholysis bullosa |
| has_obo_namespace |
disease_ontology |
| id |
DOID:2730 |
| in_subset | |
| label |
epidermolysis bullosa |
| notation |
DOID:2730 |
| prefLabel |
epidermolysis bullosa |
| subClassOf |