Term Name: | palmoplantar keratoderma-esophageal carcinoma syndrome |
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Synonyms: | Bennion-Patterson syndrome, Howell-Evans syndrome, keratosis palmaris et plantaris with esophageal cancer, keratosis palmoplantaris-esophageal carcinoma syndrome, palmoplantar hyperkeratosis-esophageal carcinoma syndrome, palmoplantar keratoderma with esophageal cancer, TOC, tylosis with esophageal cancer, tylosis-oesophageal carcinoma syndrome |
Definition: | A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. |
Ontology: | Human Disease [DOID:0111506] ( DOID:0111506 ) |