PPKBdiffuse palmoplantar keratoderma, Bothnian type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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 AQP5 on chromosome 12q13.12.