Metadata | |
---|---|
ID | DOID:0111506 |
Name | palmoplantar keratoderma-esophageal 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. https://www.ncbi.nlm.nih.gov/pubmed/13579162, https://www.ncbi.nlm.nih.gov/pubmed/22265016 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Bennion-Patterson syndrome [EXACT] Howell-Evans syndrome [EXACT] keratosis palmaris et plantaris with esophageal cancer [EXACT] keratosis palmoplantaris-esophageal carcinoma syndrome [EXACT] palmoplantar hyperkeratosis-esophageal carcinoma syndrome [EXACT] palmoplantar keratoderma with esophageal cancer [EXACT] TOC [EXACT] tylosis with esophageal cancer [EXACT] tylosis-oesophageal carcinoma syndrome [EXACT] |
Parent Relationships |
is_a syndrome |