Phenotypes associated with the disease Barrett esophagus (OMIM:614266):
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: TAS. (OMIM:614266)
- Esophageal ulceration (HP:0004791): Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:14791960)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. (PMID:14791960)
- Barrett esophagus (HP:0100580): An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. Evidence: TAS. (OMIM:614266)
- Esophageal carcinoma (HP:0011459): The presence of a carcinoma of the esophagus. Evidence: TAS. (OMIM:614266)