ORPHA:93279
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Adolescent, Adult, Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:93279 is classified under "Bone diseases" in the Orphanet nomenclature.