Term Name: | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques |
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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. |
Ontology: | Human Disease [DOID:0112013] ( DOID:0112013 ) |