FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ID (Ontology) DOID:0112012 (Human Disease)
Definition A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12.
Also Known As "OLMSX" ; "X-linked Olmsted syndrome"
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 Genes
 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques       1
 for disease ribbon | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques       1
 model of | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease________________________________________________
keratosis                                                                     |
 |__mutilating palmoplantar keratoderma with periorificial keratotic plaques__|
                                                                              X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  1 rec.
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Is a X-linked recessive disease
mutilating palmoplantar keratoderma with periorificial keratotic plaques
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Synonyms
  • "OLMSX" EXACT OMO:0003012
    "X-linked Olmsted syndrome" EXACT
Secondary IDs
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MIM:300918