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DO Term : X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques [DOID:0112012] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12.

synonyms:
OMIM:300918,
X-linked Olmsted syndrome,
OLMSX,
300918

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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