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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 AQP5 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

Synonyms

diffuse palmoplantar keratoderma, Bothnian type [EXACT]

PPKB [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a nonepidermolytic palmoplantar keratoderma

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