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Epidermolytic Palmoplantar Keratoderma 2

Disease ID: disease_node_19356

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DbxrefMIM:620411
SubclassofDOID_0050736, DOID_0080223
Data SourceDOID
SynonymsEPPK2
Doid Labelepidermolytic palmoplantar keratoderma 2
Doid DescriptionAn epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19356
Doid IdDOID_0070551
LabelEpidermolytic Palmoplantar Keratoderma 2