Term Name: | Bothnian type palmoplantar keratoderma |
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Synonyms: | diffuse palmoplantar keratoderma, Bothnian type, PPKB |
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. |
Ontology: | Human Disease [DOID:0111707] ( DOID:0111707 ) |