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Metadata
ID	DOID:0111707
Name	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. https://www.ncbi.nlm.nih.gov/pubmed/23830519, https://www.ncbi.nlm.nih.gov/pubmed/7531539
Xrefs	GARD:1862 OMIM:600231
Subsets	DO_rare_slim
Synonyms	diffuse palmoplantar keratoderma, Bothnian type [EXACT] PPKB [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a nonepidermolytic palmoplantar keratoderma