Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Weissenbacher- Zweymuller syndrome

COL2A1 COL11A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.52)
COL11A2



Citations in the biomedical literature:


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
COL2A1
Weissenbacher- Zweymuller syndrome
COL11A2



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

Synonym(s):
(no synonyms)

Synonym(s):
- Heterozygous OSMED
- Heterozygous otospondylomegaepiphyseal dysplasia
- Pierre Robin sequence - fetal chondrodysplasia
- Pierre Robin syndrome - fetal chondrodysplasia

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
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
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 dominant

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

No signs/symptoms info available.