Search Ontology:
Human Disease

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 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models