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Summary Literature (0)
DOID:0111346 - epidermolysis bullosa simplex with mottled pigmentation

Disease Ontology 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.

Synonyms: EBSMP, Epidermolysis bullosa simplex-MP, speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering,

Xenbase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), epidermolysis bullosa simplex (is_a)