FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term focal nonepidermolytic palmoplantar keratoderma 2 ID (Ontology) DOID:0111711 (Human Disease)
Definition A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
Also Known As "FNEPPK2"
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DO.org
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 Genes
 focal nonepidermolytic palmoplantar keratoderma 2       1
 for disease ribbon | focal nonepidermolytic palmoplantar keratoderma 2       1
 model of | focal nonepidermolytic palmoplantar keratoderma 2       1
Spanning Tree (Parents/Children)
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nonepidermolytic palmoplantar keratoderma
 |__focal nonepidermolytic palmoplantar keratoderma__
autosomal genetic disease                            |
 |__autosomal dominant disease_______________________|
                                                     focal nonepidermolytic palmoplantar keratoderma 2  1 rec.
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Is a autosomal dominant disease
focal nonepidermolytic palmoplantar keratoderma
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Synonyms
  • "FNEPPK2" EXACT OMO:0003012
Secondary IDs
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MIM:616400