FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term epidermolysis bullosa simplex ID (Ontology) DOID:4644 (Human Disease)
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.
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 epidermolysis bullosa simplex       3      3      1
 for disease ribbon | epidermolysis bullosa simplex       --       1       --
 model of | epidermolysis bullosa simplex       --       1       --
 DOES NOT model | epidermolysis bullosa simplex       3       --       --
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  vesiculobullous skin disease
   |__epidermolysis bullosa
       |__epidermolysis bullosa simplex  12 rec.
           |__epidermolysis bullosa simplex Dowling-Meara type 8 rec.
           |__epidermolysis bullosa simplex generalized type 1 rec.
           |__epidermolysis bullosa simplex localized type 1 rec.
           |__epidermolysis bullosa simplex Ogna type 1 rec.
           |__epidermolysis bullosa simplex with mottled pigmentation
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GARD:10752
ICD10CM:Q81.0
MESH:D016110
MIM:601001
MIM:615425
NCI:C84692
ORDO:304
SNOMEDCT_US_2023_03_01:205585003
UMLS_CUI:C0079298