| 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 ) |