Trait
Dumbbell-shaped long bone
An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.
Summary
- Also called
- Dumbbell widening of long bone metaphyses
Reference genomeGRCh38hg38
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Get my Genome Test4 genes linked to Dumbbell-shaped long bone
Changes in these genes cause rare conditions in which Dumbbell-shaped 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 |
|---|---|---|
| COL11A1collagen type XI alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 3 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Sometimes (5–29%) | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Sometimes (5–29%) | In 2 conditions |
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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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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