Version: 8.0.0
Date: Tue Jan 28 2025
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
DOID:0112012
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques

Definition
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12.
Synonyms
  • OLMSX
  • X-linked Olmsted syndrome
Cross References
Parent Terms
Child Terms
None
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