Trait

Broad shaft of long bone

Clinical name: Broad long bone diaphyses

Increased width of the diaphysis of long bones.

HPO HP:0006371

Also called: Wide shaft of long bone
Body system: Abnormality of limbs Abnormality of the musculoskeletal system

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4 genes linked to Broad shaft of long bone

Changes in these genes cause rare conditions in which Broad shaft of long bone 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
WDR19WD repeat domain 19	Always	In 1 condition
TFE3transcription factor binding to IGHM enhancer 3	Often (30–79%)	In 1 condition
GLB1galactosidase beta 1	Sometimes (5–29%)	In 1 condition
BGNbiglycan	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

Abnormal shape of shaft of 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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