Trait

Abnormality of the big toe

Clinical name: Abnormal hallux morphology

This term applies for all abnormalities of the big toe, also called hallux.

HPO HP:0001844

Also called: Abnormalities of the hallux, Abnormality of the hallux
Body system: Abnormality of limbs Abnormality of the musculoskeletal system

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2 genes linked to Abnormality of the big toe

Changes in these genes cause rare conditions in which Abnormality of the big toe 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
ACVR1activin A receptor type 1	Very often (80–99%)	In 1 condition
PTRH2peptidyl-tRNA hydrolase 2	Sometimes (5–29%)	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.

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Broader traits

Abnormalities of the toes

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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