DISEASES

Disease-gene associations mined from literature

Human genes for focal or diffuse nonepidermolytic palmoplantar keratoderma

Focal or diffuse nonepidermolytic palmoplantar keratoderma [DOID:0111710]

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 KRT6C on chromosome 12q13.13.

Synonyms:  focal or diffuse nonepidermolytic palmoplantar keratoderma,  DOID:0111710,  focal or diffuse nonepidermolytic palmoplantar keratodermas,  autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,  PPKNEFD ...