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Human Disease
Nagashima-type palmoplantar keratosis
- Term ID
- DOID:0070555
- Synonyms
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- 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
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- MIM:615598
- ORDO:140966
- UMLS_CUI:C3810072
- Ontology
- Human Disease ( DOID:0070555 )
- is a type of
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