Version: 8.0.0
Date: Tue Jan 28 2025
Bothnian type palmoplantar keratoderma
DOID:0111707
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Bothnian type palmoplantar keratoderma

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
  • diffuse palmoplantar keratoderma, Bothnian type
  • PPKB
Cross References
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