Term Name: | focal or diffuse nonepidermolytic palmoplantar keratoderma |
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Synonyms: | autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering, PPKNEFD |
Definition: | A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. |
Ontology: | Human Disease [DOID:0111710] ( DOID:0111710 ) |