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Summary Literature (0)
DOID:0111711 - focal nonepidermolytic palmoplantar keratoderma 2

Disease Ontology Definition:A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.

Synonyms: FNEPPK2,

Xenbase Genes : trpv3



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), focal nonepidermolytic palmoplantar keratoderma (is_a)