Term Name: epidermolysis bullosa simplex 2F with mottled pigmentation
Synonyms: EBSMP, epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex-MP, speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
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 the keratin-5 gene (KRT5) on chromosome 12q13.13.
Ontology: Human Disease [DOID:0111346]   ( DOID:0111346 )

Relationships
is a type of: autosomal dominant disease epidermolysis bullosa simplex