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Focal Or Diffuse Nonepidermolytic Palmoplantar Keratoderma

Disease ID: disease_node_19363

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DbxrefMIM:615735, ORDO:402003
SubclassofDOID_0050428, DOID_0050736
Data SourceDOID
SynonymsPPKNEFD, autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Doid Labelfocal or diffuse nonepidermolytic palmoplantar keratoderma
Doid DescriptionA 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.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19363
Doid IdDOID_0111710
LabelFocal Or Diffuse Nonepidermolytic Palmoplantar Keratoderma