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Trait

Absent thoracic vertebra

A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.

HPO HP:0031176

Summary

Body system
Abnormality of the musculoskeletal system

1 gene linked to Absent thoracic vertebra

Changes in these genes cause rare conditions in which Absent thoracic vertebra 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.

GeneHow often it is seenConditions
NR6A1nuclear receptor subfamily 6 group A member 1Very often (80–99%)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

Absent vertebrae

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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