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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant rhegmatogenous retinal detachment
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

COL2A1 COL2A1


COMMON
GENES
COL2A1



Citations in the biomedical literature:


Autosomal dominant rhegmatogenous retinal detachment
COL2A1
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis



Autosomal dominant rhegmatogenous retinal detachment
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.