Trait
Vascular ring
A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.
Summary
- Also called
- Vascular ring of aorta
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
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Get my Genome Test4 genes linked to Vascular ring
Changes in these genes cause rare conditions in which Vascular ring 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 |
|---|---|---|
| TELO2telomere maintenance 2 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Rarely (1–4%) | In 3 conditions |
| EP300EP300 lysine acetyltransferase | Rarely (1–4%) | In 2 conditions |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Not recorded | In 1 condition |
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.
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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