Search Ontology:
Human Disease
palmoplantar keratoderma-esophageal carcinoma syndrome
- Term ID
- DOID:0111506
- Synonyms
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- Bennion-Patterson syndrome
- Howell-Evans syndrome
- keratosis palmaris et plantaris with esophageal cancer
- keratosis palmoplantaris-esophageal carcinoma syndrome
- palmoplantar hyperkeratosis-esophageal carcinoma syndrome
- palmoplantar keratoderma with esophageal cancer
- TOC
- tylosis with esophageal cancer
- tylosis-oesophageal 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. (2)
- References
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- GARD:3102
- MESH:C536164
- MIM:148500
- ORDO:2198
- UMLS_CUI:C1835664
- Ontology
- Human Disease ( DOID:0111506 )
- is a type of
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