epidermolysis bullosa

Term ID

DOID:2730

Synonyms

• acantholysis 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/

References

• GARD:6359
• ICD10CM:Q81
• MESH:D004820
• NCI:C67383
• SNOMEDCT_US_2023_03_01:205580008
• UMLS_CUI:C0014527

Ontology

Human Disease   ( DOID:2730 )