Trait

Abnormality of the long bone of foot

Clinical name: Abnormal metatarsal morphology

Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).

HPO HP:0001832

Body system: Abnormality of limbs Abnormality of the musculoskeletal system

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9 genes linked to Abnormality of the long bone of foot

Changes in these genes cause rare conditions in which Abnormality of the long bone of foot 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
KIF22kinesin family member 22	Often (30–79%)	In 1 condition
ANKRD55ankyrin repeat domain 55	Sometimes (5–29%)	In 1 condition
CD247CD247 molecule	Sometimes (5–29%)	In 1 condition
IL2RAinterleukin 2 receptor subunit alpha	Sometimes (5–29%)	In 1 condition
IL2RBinterleukin 2 receptor subunit beta	Sometimes (5–29%)	In 1 condition
PTPN2protein tyrosine phosphatase non-receptor type 2	Sometimes (5–29%)	In 1 condition
PTPN22protein tyrosine phosphatase non-receptor type 22	Sometimes (5–29%)	In 1 condition
STAT4signal transducer and activator of transcription 4	Sometimes (5–29%)	In 1 condition
SHOXSHOX homeobox	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.

Narrower traits

Broader traits

Abnormal feet structure Abnormal shape of bones of the lower limbs

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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