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Metadata
ID	DOID:4644
Name	epidermolysis bullosa simplex
Definition	An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes
Xrefs	GARD:10752 ICD10CM:Q81.0 MESH:D016110 MIM:601001 MIM:615425 NCI:C84692 ORDO:304 SNOMEDCT_US_2023_03_01:205585003 UMLS_CUI:C0079298
Subsets	DO_rare_slim NCIthesaurus
Parent Relationships	is_a epidermolysis bullosa