Version: 8.0.0
Date: Tue Jan 28 2025
epidermolysis bullosa simplex with mottled pigmentation
DOID:0111346
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

epidermolysis bullosa simplex with mottled pigmentation

Definition
An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.
Synonyms
  • EBSMP
  • Epidermolysis bullosa simplex-MP
Cross References
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