Trait
Short long bone
One or more abnormally short long bone.
Summary
- Also called
- Long bone shortening, Short tubular bones, shortened long 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 Test78 genes linked to Short long bone
Changes in these genes cause rare conditions in which Short 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 |
|---|---|---|
| ADAMTSL2ADAMTS like 2 | Always | In 2 conditions |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 2 conditions |
| C1GALT1C1C1GALT1 specific chaperone 1 | Always | In 1 condition |
| CEP120centrosomal protein 120 | Always | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Always | In 9 conditions |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Always | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Always | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Always | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Always | In 3 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Always | In 2 conditions |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Always | In 1 condition |
| KIAA0753KIAA0753 | Always | In 1 condition |
| LBRlamin B receptor | Always | In 2 conditions |
| NEK9NIMA related kinase 9 | Always | In 1 condition |
| PAM16presequence translocase associated motor 16 | Always | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Always | In 2 conditions |
| PLCB3phospholipase C beta 3 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| RPL13ribosomal protein L13 | Always | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Always | In 1 condition |
| SMAD4SMAD family member 4 | Always | In 1 condition |
| TMEM67transmembrane protein 67 | Always | In 1 condition |
| TTC21Btetratricopeptide repeat domain 21B | Always | In 1 condition |
| XYLT1xylosyltransferase 1 | Always | In 2 conditions |
| DVL1dishevelled segment polarity protein 1 | Very often (80–99%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 2 conditions |
| WNT5AWnt family member 5A | Very often (80–99%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 2 conditions |
| COL10A1collagen type X alpha 1 chain | Often (30–79%) | In 1 condition |
| COMPcartilage oligomeric matrix protein | Often (30–79%) | In 3 conditions |
| DDRGK1DDRGK domain containing 1 | Often (30–79%) | In 1 condition |
| DYMdymeclin | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Often (30–79%) | In 2 conditions |
| FN1fibronectin 1 | Often (30–79%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Often (30–79%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Often (30–79%) | In 1 condition |
| RSPRY1ring finger and SPRY domain containing 1 | Often (30–79%) | In 1 condition |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Often (30–79%) | In 1 condition |
Show 38 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Often (30–79%) | In 1 condition |
| ZIC3Zic family zinc finger 3 | Often (30–79%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Sometimes (5–29%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| FLNBfilamin B | Sometimes (5–29%) | In 1 condition |
| GLB1galactosidase beta 1 | Sometimes (5–29%) | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Sometimes (5–29%) | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Sometimes (5–29%) | In 1 condition |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Sometimes (5–29%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Not recorded | In 1 condition |
| BGNbiglycan | Not recorded | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Not recorded | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Not recorded | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Not recorded | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Not recorded | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Not recorded | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Not recorded | In 1 condition |
| GHRgrowth hormone receptor | Not recorded | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Not recorded | In 2 conditions |
| GPX4glutathione peroxidase 4 | Not recorded | In 1 condition |
| IFT172intraflagellar transport 172 | Not recorded | In 1 condition |
| INTUinturned planar cell polarity protein | Not recorded | In 1 condition |
| LIFRLIF receptor subunit alpha | Not recorded | In 1 condition |
| MATN3matrilin 3 | Not recorded | In 1 condition |
| NADSYN1NAD synthetase 1 | Not recorded | In 1 condition |
| NEK1NIMA related kinase 1 | Not recorded | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Not recorded | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Not recorded | In 1 condition |
| ROR2ROR family WNT receptor 2 | Not recorded | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Not recorded | In 1 condition |
| SLC10A7solute carrier family 10 member 7 | Not recorded | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Not recorded | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Not recorded | In 1 condition |
| WDR35WD repeat domain 35 | 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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