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palmoplantar keratoderma-esophageal carcinoma syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007856

An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. [ https://orcid.org/0000-0001-5208-3432 GARD:0003102 ]

Synonyms: keratosis palmoplantaris-esophageal carcinoma syndrome Bennion-Patterson syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma-esophageal carcinoma syndrome Howell-Evans syndrome tylosis-oesophageal carcinoma syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C1835664 (MONDO:equivalentTo)
  • GARD:3102 (MONDO:GARD)
  • OMIM:148500 (Orphanet:2198/e)
  • SCTID:111030006 (MONDO:equivalentTo)
  • Orphanet:2198 (OMIM:148500)
  • DOID:0111506 (MONDO:equivalentTo)
  • MESH:C536164 (MONDO:equivalentTo)
  • MEDGEN:324338 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6743

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)

exactMatch

http://linkedlifedata.com/resource/umls/id/C1835664

http://purl.obolibrary.org/obo/DOID_0111506

https://omim.org/entry/148500

http://identifiers.org/mesh/C536164

http://identifiers.org/medgen/324338

http://www.orpha.net/ORDO/Orphanet_2198

http://identifiers.org/snomedct/111030006

has related synonym

keratosis palmoplantaris with esophageal cancer

howel-Evans syndrome

keratosis palmaris et plantaris with esophageal cancer

tylosis with esophageal cancer

Toc

palmoplantar keratoderma with esophageal cancer

keratosis palmaris Et plantaris with esophageal cancer

tylosis - oesophageal carcinoma

id

MONDO:0007856

seeAlso

https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer