autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques Disease Ontology Browser

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Disease Ontology Browser

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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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