Disease - Tylosis with esophageal cancer
- DefinitionAn autosomal dominant syndrome characterized by focal non- epidermolytic palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of developing esophageal squamous cell carcinoma.
- AcronymTOC
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Browse 1 entry- Inactive rhomboid protein 2 · Gene: RHBDF2 (IRHOM2, RHBDL5, RHBDL6) · Homo sapiens (Human) · 856 amino acids · Evidence at protein level · Annotation score: 5/5