Term Name: | epidermolysis bullosa simplex with mottled pigmentation |
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Synonyms: | EBSMP, 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 KRT5 on chromosome 12q13.13. |
Ontology: | Human Disease [DOID:0111346] ( DOID:0111346 ) |