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ONTOLOGY REPORT - ANNOTATIONS


Term:palmoplantar keratoderma-esophageal carcinoma syndrome
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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
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palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link 11 116,598,148 116,627,019 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 12660
    syndrome 5070
      palmoplantar keratoderma-esophageal carcinoma syndrome 1
Path 2
Term Annotations click to browse term
  disease 12660
    disease of anatomical entity 12273
      gastrointestinal system disease 4173
        Gastrointestinal Diseases 2369
          esophageal disease 339
            Esophageal Neoplasms 142
              esophageal cancer 80
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.