Trait
Abnormality of esophagus structure
Clinical name: Abnormal esophagus morphology
A structural abnormality of the esophagus.
Summary
- Also called
- Abnormal oesophagus morphology, Abnormality of oesophagus structure, Anomaly of the esophagus, Anomaly of the oesophagus
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
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Get my Genome Test4 genes linked to Abnormality of esophagus structure
Changes in these genes cause rare conditions in which Abnormality of esophagus structure is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| COL4A5collagen type IV alpha 5 chain | Very often (80–99%) | In 1 condition |
| COL4A6collagen type IV alpha 6 chain | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Often (30–79%) | In 2 conditions |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
- Abnormal connection between trachea and esophagus97 genes
- Enlarged vein in esophagus48 genes
- Birth defect in which part of esophagus did not develop38 genes
- Inflammation of the esophagus26 genes
- Narrowing of the esophagus20 genes
- Esophageal tumor15 genes
- Esophagus ulcer7 genes
- Esophageal diverticulum2 genes
- Spontaneous esophageal perforation2 genes
- Esophageal food impaction1 gene
- Esophageal furrows1 gene
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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