Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:palmoplantar keratoderma-esophageal carcinoma syndrome
go back to main search page
Accession:DOID:0111506 term browser browse the term
Definition:A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: Bennion-Patterson syndrome;   Howell Evans syndrome;   TOC;   keratosis palmaris et plantaris with esophageal cancer;   keratosis palmoplantaris 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
 primary_id: MESH:C536164
 alt_id: OMIM:148500
 xref: GARD:3102;   ORDO:2198
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link 10 105,573,759 105,600,885 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      palmoplantar keratoderma-esophageal carcinoma syndrome 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      gastrointestinal system disease 4498
        Gastrointestinal Diseases 2438
          esophageal disease 337
            Esophageal Neoplasms 142
              esophageal cancer 80
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.