autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques

Term ID

DOID:0112013

Synonyms

• autosomal dominant Olmsted syndrome
• OLMS1
• Olmsted syndrome 1

Definition

A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (2)

References

• OMIM:614594

Ontology

Human Disease   ( DOID:0112013 )