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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the RHBDF2 gene 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
 xref: GARD:3102;   MESH:C536164;   MIM:148500;   MONDO:0007856;   ORDO:2198

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palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHBDF2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER | ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: Tylosis with esophageal cancer OMIM
ClinVar		 PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More... NCBI chr16:45,176,152...45,205,464
Ensembl chr16:45,194,852...45,204,761 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    syndrome 10365
      palmoplantar keratoderma-esophageal carcinoma syndrome 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        Neurologic Manifestations 9796
          sensory system disease 6898
            skin disease 4049
              Genetic Skin Diseases 1840
                palmoplantar keratosis 41
                  palmoplantar keratoderma-esophageal carcinoma syndrome 1
paths to the root