| 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/22265016, https://www.ncbi.nlm.nih.gov/pubmed/13579162 |
| 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 autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |