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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
Familial osteochondritis dissecans
Spondyloepimetaphyseal dysplasia, aggrecan type

ACAN ACAN


COMMON
GENES
ACAN



Citations in the biomedical literature:


Familial osteochondritis dissecans
ACAN
Spondyloepimetaphyseal dysplasia, aggrecan type



Familial osteochondritis dissecans
Spondyloepimetaphyseal dysplasia, aggrecan type

Synonym(s):
- Osteochondritis dissecans and short stature

Synonym(s):
- SEMD, aggrecan type

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

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.