Visualize
Metadata
DOID 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

NCI:C84692

OMIM:601001

OMIM:615425

SNOMEDCT_US_2018_03_01:67144006

UMLS_CUI:C0079298

Subsets

NCIthesaurus

Synonyms

Epidermolysis bullosa simplex [EXACT]

Relationships

is_a epidermolysis bullosa

Add an item to the term tracker