has material basis in germline mutation in RHBDF2 syndromic disease palmoplantar keratoderma-esophageal carcinoma syndrome https://github.com/monarch-initiative/mondo/issues/6743 https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer https://www.malacards.org/card/tylosis_with_esophageal_cancer tylosis with esophageal cancer DOID:0111506 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) palmoplantar keratoderma-esophageal carcinoma syndrome tylosis - oesophageal carcinoma howel-Evans syndrome Orphanet:2198 tylosis-oesophageal carcinoma syndrome keratosis palmoplantaris-esophageal carcinoma syndrome Bennion-Patterson syndrome GARD:0003102 UMLS:C1835664 OMIM:148500 An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Toc SCTID:111030006 MEDGEN:324338 Howell-Evans syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome MESH:C536164 keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris with esophageal cancer MONDO:0007856 focal palmoplantar keratoderma