epidermolysis bullosa simplex with mottled pigmentation Disease Ontology Browser

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Disease Ontology Browser

epidermolysis bullosa simplex with mottled pigmentation (DOID:0111346)
Alliance: disease page
Synonyms: EBSMP; Epidermolysis bullosa simplex-MP; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Alt IDs: OMIM:131960, MESH:C535959, ORDO:79397, UMLS_CUI:C0432316
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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