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DO Term : autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques [DOID:0112013] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
  • synonyms:
  • autosomal dominant Olmsted syndrome,
  • 614594,
  • Olmsted syndrome 1,
  • OMIM:614594,
  • OLMS1
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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