Term Name: | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques |
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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. |
Ontology: | Human Disease [DOID:0112012] ( DOID:0112012 ) |