Trait
Abnormal shape of cartilage
Clinical name: Abnormal cartilage morphology
Any morphological abnormality of cartilage.
Summary
- Also called
- Abnormality of cartilage morphology
- 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 Test8 genes linked to Abnormal shape of cartilage
Changes in these genes cause rare conditions in which Abnormal shape of cartilage 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 |
|---|---|---|
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Very often (80–99%) | In 1 condition |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Very often (80–99%) | In 1 condition |
| PTH1Rparathyroid hormone 1 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 |
| TRAPPC2trafficking protein particle complex subunit 2 | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | 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
- Multiple enchondromatosis10 genes
- Calcification of cartilage5 genes
- Cartilage destruction4 genes
- Abnormal cartilage collagen1 gene
- Abnormal cricoid cartilage morphology1 gene
- Abnormal chondrocyte morphology
- Abnormal external ear cartilage morphology
- Abnormality of cartilage of nasal septum
- Cartilage inflammation
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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