Term Name: Bothnian type palmoplantar keratoderma
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 )

Relationships
is a type of: autosomal dominant disease nonepidermolytic palmoplantar keratoderma