Trait
Abnormal shape of end part of bone
Clinical name: Abnormal epiphysis morphology
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Summary
- Also called
- Abnormality of epiphysis morphology, Abnormality of the epiphyses, Anomaly of the epiphyses, Epiphyseal abnormality
- 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 Test90 genes linked to Abnormal shape of end part of bone
Changes in these genes cause rare conditions in which Abnormal shape of 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 |
|---|---|---|
| ACANaggrecan | Very often (80–99%) | In 1 condition |
| BMPR1Bbone morphogenetic protein receptor type 1B | Very often (80–99%) | In 1 condition |
| CDC45cell division cycle 45 | Very often (80–99%) | In 1 condition |
| CDC6cell division cycle 6 | Very often (80–99%) | In 1 condition |
| CDT1chromatin licensing and DNA replication factor 1 | Very often (80–99%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Very often (80–99%) | In 2 conditions |
| COL9A1collagen type IX alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COL9A2collagen type IX alpha 2 chain | Very often (80–99%) | In 2 conditions |
| COL9A3collagen type IX alpha 3 chain | Very often (80–99%) | In 2 conditions |
| GDF5growth differentiation factor 5 | Very often (80–99%) | In 2 conditions |
| GMNNgeminin DNA replication inhibitor | Very often (80–99%) | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 1 condition |
| KIF1Akinesin family member 1A | Very often (80–99%) | In 1 condition |
| LMBR1limb development membrane protein 1 | Very often (80–99%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Very often (80–99%) | In 1 condition |
| MMP13matrix metallopeptidase 13 | Very often (80–99%) | In 2 conditions |
| MMP9matrix metallopeptidase 9 | Very often (80–99%) | In 1 condition |
| ORC1origin recognition complex subunit 1 | Very often (80–99%) | In 1 condition |
| ORC4origin recognition complex subunit 4 | Very often (80–99%) | In 1 condition |
| ORC6origin recognition complex subunit 6 | Very often (80–99%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| PCNTpericentrin | Very often (80–99%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Very often (80–99%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Very often (80–99%) | In 1 condition |
| RETREG1reticulophagy regulator 1 | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 1 condition |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Very often (80–99%) | In 1 condition |
| SNX10sorting nexin 10 | Very often (80–99%) | In 1 condition |
| TBX4T-box transcription factor 4 | Very often (80–99%) | In 2 conditions |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Very often (80–99%) | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Very often (80–99%) | In 1 condition |
| TNFSF11TNF superfamily member 11 | Very often (80–99%) | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Very often (80–99%) | In 1 condition |
Show 50 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TYROBPtransmembrane immune signaling adaptor TYROBP | Very often (80–99%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Very often (80–99%) | In 1 condition |
| WNK1WNK lysine deficient protein kinase 1 | Very often (80–99%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 1 condition |
| DDRGK1DDRGK domain containing 1 | Often (30–79%) | In 1 condition |
| DUOX2dual oxidase 2 | Often (30–79%) | In 1 condition |
| DUOXA2dual oxidase maturation factor 2 | Often (30–79%) | In 1 condition |
| ERI1exoribonuclease 1 | Often (30–79%) | In 1 condition |
| HESX1HESX homeobox 1 | Often (30–79%) | In 1 condition |
| IDUAalpha-L-iduronidase | Often (30–79%) | In 1 condition |
| IYDiodotyrosine deiodinase | Often (30–79%) | In 1 condition |
| LHX3LIM homeobox 3 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 1 condition |
| LOXL3lysyl oxidase like 3 | Often (30–79%) | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Often (30–79%) | In 1 condition |
| PHEXphosphate regulating endopeptidase X-linked | Often (30–79%) | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Often (30–79%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Often (30–79%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 1 condition |
| SLC5A5solute carrier family 5 member 5 | Often (30–79%) | In 1 condition |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| TGthyroglobulin | Often (30–79%) | In 1 condition |
| TPOthyroid peroxidase | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 1 condition |
| FLNBfilamin B | Sometimes (5–29%) | In 1 condition |
| GORABgolgin, RAB6 interacting | Sometimes (5–29%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Sometimes (5–29%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sometimes (5–29%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Sometimes (5–29%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Sometimes (5–29%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Sometimes (5–29%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Sometimes (5–29%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Sometimes (5–29%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Sometimes (5–29%) | In 1 condition |
| PRDM5PR/SET domain 5 | Sometimes (5–29%) | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Sometimes (5–29%) | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sometimes (5–29%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Sometimes (5–29%) | In 1 condition |
| ZNF469zinc finger protein 469 | Sometimes (5–29%) | 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
- Cone-shaped end part of bone66 genes
- Speckled calcifications in end part of bone34 genes
- Abnormal development of end part of bone31 genes
- Delayed maturation of end part of long bone26 genes
- Small end part of bone20 genes
- Flat end part of bone17 genes
- Irregular end part of long bone17 genes
- Large end part of bone7 genes
- Increased bone density in end part of bone3 genes
- Pseudoepiphyses3 genes
- Abnormal shape of the end part of the vertebra bone2 genes
- Epiphyseal deformities of tubular bones2 genes
- Fragmented end part of bone2 genes
- Absent end part of bone1 gene
- Multinucleated giant chondrocytes in epiphyseal cartilage1 gene
- Splayed end part of bone1 gene
- Abnormal shape of end part of limb bones
- Triangular end part of bone
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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