Trait
Small end part of bone
Clinical name: Small epiphyses
Reduction in the size or volume of epiphyses.
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 Test20 genes linked to Small end part of bone
Changes in these genes cause rare conditions in which Small end part of 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 |
|---|---|---|
| CHST3carbohydrate sulfotransferase 3 | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 2 conditions |
| MMP13matrix metallopeptidase 13 | Often (30–79%) | In 2 conditions |
| RSPRY1ring finger and SPRY domain containing 1 | Often (30–79%) | In 2 conditions |
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 1 condition |
| COMPcartilage oligomeric matrix protein | Sometimes (5–29%) | In 3 conditions |
| TONSLtonsoku like, DNA repair protein | Sometimes (5–29%) | In 2 conditions |
| AIFM1apoptosis inducing factor mitochondria associated 1 | 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 |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | 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 |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Not recorded | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Not recorded | In 1 condition |
| SLC10A7solute carrier family 10 member 7 | 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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