epidermolysis bullosa simplex

Term ID

DOID:4644

Synonyms

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

References

• GARD:10752
• ICD10CM:Q81.0
• MESH:D016110
• NCI:C84692
• OMIM:601001
• OMIM:615425
• ORDO:304
• SNOMEDCT_US_2023_03_01:205585003
• UMLS_CUI:C0079298

Ontology

Human Disease   ( DOID:4644 )