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DOID:0111506 - palmoplantar keratoderma-esophageal carcinoma syndrome
Disease Ontology 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.
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-oesophageal carcinoma syndrome, tylosis with esophageal cancer
Xenbase Genes
:
rhbdf2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)