. "epidermolysis bullosa simplex with mottled pigmentation"^^ . . "Epidermolysis bullosa simplex-MP"@en . "MESH:C535959"^^ . "disease_ontology"^^ . "UMLS_CUI:C0432316"^^ . _:vb50944630 . "GARD:9737"^^ . _:vb50944630 . _:vb50944630 . "SNOMEDCT_US_2021_09_01:254180002"^^ . "ORDO:79397"^^ . . "OMIM:131960"^^ . "EBSMP"@en . . "DOID:0111346"^^ . "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering"@en . "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."^^ . _:vb50944630 . _:vb50944630 .