Trait
Broad long bones
Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.
Summary
- Also called
- Wide long bones, Widened long bones
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test9 genes linked to Broad long bones
Changes in these genes cause rare conditions in which Broad long bones 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 |
|---|---|---|
| DDR2discoidin domain receptor tyrosine kinase 2 | Always | In 1 condition |
| HHAThedgehog acyltransferase | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| BGNbiglycan | Not recorded | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Not recorded | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Not recorded | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Not recorded | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Not recorded | In 1 condition |
| GJA1gap junction protein alpha 1 | 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
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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