Nagashima-Type Palmoplantar Keratosis
Disease ID: disease_node_19360
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| Dbxref | MIM:615598, ORDO:140966, UMLS_CUI:C3810072 |
|---|---|
| Subclassof | DOID_0050428, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NPPK, PPKN, palmoplantar keratoderma nagashima type |
| Doid Label | Nagashima-type palmoplantar keratosis |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19360 |
| Doid Id | DOID_0070555 |
| Label | Nagashima-Type Palmoplantar Keratosis |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)