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Disease Ontology Browser
palmoplantar keratoderma-esophageal carcinoma syndrome (DOID:0111506)
Alliance: disease page
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
Alt IDs: OMIM:148500, MESH:C536164, ORDO:2198, UMLS_CUI:C1835664
Definition: A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1.

Disease References using Mouse Models (3)

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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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory