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Focal Nonepidermolytic Palmoplantar Keratoderma 2

Disease ID: disease_node_19364

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DbxrefMIM:616400
SubclassofDOID_0050736, DOID_0111708
Data SourceDOID
SynonymsFNEPPK2
Doid Labelfocal nonepidermolytic palmoplantar keratoderma 2
Doid DescriptionA focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19364
Doid IdDOID_0111711
LabelFocal Nonepidermolytic Palmoplantar Keratoderma 2