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DOID:0111707 - Bothnian type palmoplantar keratoderma
Disease Ontology Definition:A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.
Synonyms: PPKB, diffuse palmoplantar keratoderma, Bothnian type,
Xenbase Genes : aqp5
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee