FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ID (Ontology) DOID:0112013 (Human Disease)
Definition A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
Also Known As "autosomal dominant Olmsted syndrome" ; "OLMS1" ; "Olmsted syndrome 1"
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 Genes
 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques       1
 for disease ribbon | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques       1
 model of | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques       1
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autosomal genetic disease
 |__autosomal dominant disease________________________________________________
keratosis                                                                     |
 |__mutilating palmoplantar keratoderma with periorificial keratotic plaques__|
                                                                              autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  1 rec.
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Is a autosomal dominant disease
mutilating palmoplantar keratoderma with periorificial keratotic plaques
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Synonyms
  • "autosomal dominant Olmsted syndrome" EXACT
    "OLMS1" EXACT OMO:0003012
    "Olmsted syndrome 1" EXACT
Secondary IDs
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MIM:614594