Phenotypes associated with the disease gastroesophageal reflux disease (OMIM:109350):
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: TAS. (OMIM:109350)
- 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: TAS. (OMIM:109350)
- 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:109350)
- Esophageal neoplasm (HP:0100751): A tumor (abnormal growth of tissue) of the esophagus. Evidence: TAS. Frequency: 10%. (OMIM:109350)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:109350)