Trait
Abnormal bone maturation
Clinical name: Abnormal bone ossification
Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
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 Test14 genes linked to Abnormal bone maturation
Changes in these genes cause rare conditions in which Abnormal bone maturation 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 |
|---|---|---|
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 2 conditions |
| FLNBfilamin B | Very often (80–99%) | In 1 condition |
| GORABgolgin, RAB6 interacting | Very often (80–99%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Very often (80–99%) | In 1 condition |
| LBRlamin B receptor | Very often (80–99%) | In 1 condition |
| LEMD3LEM domain containing 3 | Very often (80–99%) | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Very often (80–99%) | In 1 condition |
| FN1fibronectin 1 | Often (30–79%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | 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.
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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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