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DO Term : Nagashima-type palmoplantar keratosis [DOID:0070555] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:615598,
  • ORDO:140966,
  • UMLS_CUI:C3810072,
  • PPKN,
  • 615598,
  • palmoplantar keratoderma nagashima type,
  • NPPK
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Ontology Term --> Direct parents