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DO Term : palmoplantar keratoderma-esophageal carcinoma syndrome [DOID:0111506] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.
  • synonyms:
  • tylosis-oesophageal carcinoma syndrome,
  • MESH:C536164,
  • palmoplantar hyperkeratosis-esophageal carcinoma syndrome,
  • keratosis palmoplantaris-esophageal carcinoma syndrome,
  • tylosis with esophageal cancer,
  • palmoplantar keratoderma with esophageal cancer,
  • keratosis palmaris et plantaris with esophageal cancer,
  • 148500,
  • GARD:3102,
  • Howell-Evans syndrome,
  • ORDO:2198,
  • UMLS_CUI:C1835664,
  • TOC,
  • Bennion-Patterson syndrome,
  • OMIM:148500
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