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General Information
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| Term |
Nagashima-type palmoplantar keratosis |
ID (Ontology) |
DOID:0070555 (Human Disease) |
| 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. |
| Also Known As |
"NPPK" ; "palmoplantar keratoderma nagashima type" ; "PPKN" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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Nagashima-type palmoplantar keratosis | 5 | for disease ribbon | Nagashima-type palmoplantar keratosis | 5 | model of | Nagashima-type palmoplantar keratosis | 5 |
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Relationships