Search Ontology:
Human Disease
epidermolysis bullosa
- Term ID
- DOID:2730
- Synonyms
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- 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
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- GARD:6359
- ICD10CM:Q81
- MESH:D004820
- NCI:C67383
- SNOMEDCT_US_2023_03_01:205580008
- UMLS_CUI:C0014527
- Ontology
- Human Disease ( DOID:2730 )
- is a type of
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- has subtype
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Genes Involved
Zebrafish Models