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Metadata
ID DOID:0070555
Name Nagashima-type palmoplantar keratosis
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.
https://pubmed.ncbi.nlm.nih.gov/24773080/, https://pubmed.ncbi.nlm.nih.gov/35178744/, https://pubmed.ncbi.nlm.nih.gov/24207119/
Xrefs

MIM:615598

ORDO:140966

UMLS_CUI:C3810072
SKOS

exactMatch ORDO:140966

exactMatch UMLS_CUI:C3810072

exactMatch MIM:615598
Subsets

DO_rare_slim
Synonyms

NPPK [EXACT]

palmoplantar keratoderma nagashima type [EXACT]

PPKN [EXACT]
Parent Relationships

is_a nonepidermolytic palmoplantar keratoderma

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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