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 |