DISEASES

Disease-gene associations mined from literature

Human genes for epidermolysis bullosa simplex with mottled pigmentation

Epidermolysis bullosa simplex with mottled pigmentation [DOID:0111346]

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:  epidermolysis bullosa simplex with mottled pigmentation,  DOID:0111346,  epidermolysis bullosa simplex with mottled pigmentations,  EBSMP,  Epidermolysis bullosa simplex-MP ...