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Bothnian type palmoplantar keratoderma
Summary
- Synonym
-
- PPKB
- diffuse palmoplantar keratoderma, Bothnian type
- 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.
- Super Class
- autosomal dominant disease nonepidermolytic palmoplantar keratoderma
External Links
- Disease Ontology
- DOID:0111707
- Mondo Disease Ontology
- OMIM
- GARD
