X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques

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Summary

Literature (0)

DOID:0112012 - X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques

Disease Ontology 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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mbtps2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): mutilating palmoplantar keratoderma with periorificial keratotic plaques (is_a)