ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Czech dysplasia, metatarsal type

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Citations in the biomedical literature:

Czech dysplasia, metatarsal type		Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood 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 - 1 MeSH reference: C535766		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.