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Human Disease

Nagashima-type palmoplantar keratosis

Term ID
DOID:0070555
Synonyms
  • NPPK
  • palmoplantar keratoderma nagashima type
  • PPKN
Definition
A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. (3)
References
Ontology
Human Disease   ( DOID:0070555 )
Relationships
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Genes Involved
Zebrafish Models