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Trait

Talar aplasia

Absent talus owing to a congenital defect.

HPO HP:0033977

Summary

Also called
Absent talus, Talus aplasia
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

1 gene linked to Talar aplasia

Changes in these genes cause rare conditions in which Talar aplasia 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
EN1engrailed homeobox 1AlwaysIn 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.

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Broader traits

Abnormal large bone of ankle

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 2026.10.19-9814e911.

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