autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques

Summary

DOID:0112013 - autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques

Disease Ontology Definition:A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.

Synonyms: OLMS1, Olmsted syndrome 1, autosomal dominant 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

: trpv3

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

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

Parent(s): autosomal dominant disease (is_a), mutilating palmoplantar keratoderma with periorificial keratotic plaques (is_a)