ZFIN Human Disease: palmoplantar keratoderma-esophageal carcinoma syndrome

OBO ID: DOID:0111506

Term Name:	palmoplantar keratoderma-esophageal carcinoma syndrome		Search Ontology:
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
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. (2)
References:	GARD:3102 MESH:C536164 OMIM:148500 ORDO:2198 UMLS_CUI:C1835664
Ontology:	Human Disease ( DOID:0111506 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER palmoplantar keratoderma-esophageal carcinoma syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RHBDF2		Tylosis with esophageal cancer

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None