Trait

Metaphyseal undermodelling

Lack of the normal diaphyseal constriction (thinning of long bones toward the midshaft area) giving the submetaphyseal areas an abnormally wide appearance.

HPO HP:6001098

Also called: Metaphyseal modeling defect, Undermodelled metaphyses
Body system: Abnormality of limbs Abnormality of the musculoskeletal system

This page as data

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page <- fromJSON(url)
page$trait$name

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1 gene linked to Metaphyseal undermodelling

Changes in these genes cause rare conditions in which Metaphyseal undermodelling 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
PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 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

Abnormality of the wide portion of a long bone

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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