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Human Disease

X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques

Term ID
DOID:0112012
Synonyms
  • OLMSX
  • X-linked Olmsted syndrome
Definition
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. (2)
References
Ontology
Human Disease   ( DOID:0112012 )
Relationships
Other Pages
Genes Involved
Human Gene Zebrafish Ortholog OMIM Term Disease OMIM Phenotype ID
MBTPS2?Olmsted syndrome, X-linkedX-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques300918
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Zebrafish Models
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