| 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 ) |