Trait
Irregular end part of long bone
Clinical name: Irregular epiphyses
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Summary
- 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 Test17 genes linked to Irregular end part of long bone
Changes in these genes cause rare conditions in which Irregular end part 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 |
|---|---|---|
| COMPcartilage oligomeric matrix protein | Always | In 3 conditions |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Always | In 1 condition |
| SIK3SIK family kinase 3 | Always | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 1 condition |
| ACANaggrecan | Not recorded | In 1 condition |
| COL9A1collagen type IX alpha 1 chain | Not recorded | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Not recorded | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Not recorded | In 1 condition |
| DYMdymeclin | Not recorded | In 1 condition |
| KIF22kinesin family member 22 | Not recorded | In 1 condition |
| MATN3matrilin 3 | Not recorded | In 2 conditions |
| NANSN-acetylneuraminate synthase | Not recorded | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Not recorded | In 1 condition |
| TRAPPC2trafficking protein particle complex subunit 2 | Not recorded | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | 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.
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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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