Trait
Abnormal bone structure
Any anomaly in the composite material or the layered arrangement of the bony skeleton.
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 Test10 genes linked to Abnormal bone structure
Changes in these genes cause rare conditions in which Abnormal bone structure 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 1 condition |
| VDRvitamin D receptor | Very often (80–99%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Often (30–79%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Often (30–79%) | In 1 condition |
| HBBhemoglobin subunit beta | Often (30–79%) | In 1 condition |
| HBG1hemoglobin subunit gamma 1 | Often (30–79%) | In 1 condition |
| HBG2hemoglobin subunit gamma 2 | Often (30–79%) | In 1 condition |
| KLF1KLF transcription factor 1 | Often (30–79%) | In 1 condition |
| ALKALK receptor tyrosine kinase | Rarely (1–4%) | In 1 condition |
| FLNAfilamin A | 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.
Narrower traits
- Breakdown of bone74 genes
- Abnormal cortical bone morphology49 genes
- Abnormal bone maturation14 genes
- Bone cyst14 genes
- Abnormal trabecular bone morphology6 genes
- Pagetic bone lesion3 genes
- Dysplastic patella1 gene
- Fibrous dysplasia of bone1 gene
- Abnormal bone collagen fibril morphology
- Abnormal osteoclast count
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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