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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: Alliance, 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)