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palmoplantar keratoderma-esophageal carcinoma syndrome
Summary
- Synonym
-
- Bennion-Patterson syndrome
- Howell-Evans syndrome
- TOC
- keratosis palmaris et plantaris with esophageal cancer
- keratosis palmoplantaris-esophageal carcinoma syndrome
- palmoplantar hyperkeratosis-esophageal carcinoma syndrome
- palmoplantar keratoderma with esophageal cancer
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111506
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
