Trait
Abnormal shape of long bone
Clinical name: Abnormal long bone morphology
An abnormality of size or shape of the long bones.
Summary
- Also called
- Abnormality of long bone morphology, Abnormality of the tubular 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 Abnormal shape of long bone
Changes in these genes cause rare conditions in which Abnormal shape 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 |
|---|---|---|
| COL11A2collagen type XI alpha 2 chain | Often (30–79%) | In 1 condition |
| LEMD3LEM domain containing 3 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sometimes (5–29%) | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Sometimes (5–29%) | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Rarely (1–4%) | 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
- Abnormality of the wide portion of a long bone95 genes
- Abnormal shape of end part of bone90 genes
- Short long bone78 genes
- Abnormal morphology of ulna50 genes
- Slender long bone47 genes
- Abnormal shape of shaft of long bone15 genes
- Thickened cortex of long bones10 genes
- Broad long bones9 genes
- Abnormal humerus morphology7 genes
- Phocomelia7 genes
- Crumpled long bones6 genes
- Overtubulated long bones6 genes
- Pseudoarthrosis4 genes
- Increased density of long bones2 genes
- Melorheostosis2 genes
- Periosteal thickening of long tubular bones2 genes
- Protuberances at ends of long bones2 genes
- Bent long bone1 gene
- Bowdler spurs1 gene
- Long-bone fracture
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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