autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques (DOID:0112013)
Alliance: disease page
Synonyms: autosomal dominant Olmsted syndrome; OLMS1; Olmsted syndrome 1
Alt IDs: OMIM:614594
Definition: A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.