autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blisteringPPKNEFD
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.