palmoplantar keratoderma-esophageal carcinoma syndrome Disease Ontology Browser

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 the RHBDF2 gene on chromosome 17q25.1.

Disease References using Mouse Models (3)

Allelic Composition	Genetic Background	Reference	Phenotypes
Rhbdf2cub/Rhbdf2cub	B6.Cg-Rhbdf2^cub	J:250259	View
Rhbdf2em2Mvw/Rhbdf2em2Mvw	C57BL/6J-Rhbdf2^em2Mvw/Mvw	J:244160	View
Rhbdf2cub/Rhbdf2cub	MRL.Cg-Rhbdf2^cub	J:250259	View

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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