Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Hypochondrogenesis
Congenital muscular dystrophy, Ullrich type

COL2A1 COL6A1
COL6A2
COL6A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.52)
COL6A1



Citations in the biomedical literature:


Hypochondrogenesis
COL2A1
Congenital muscular dystrophy, Ullrich type
COL6A1 COL6A2 COL6A3



Hypochondrogenesis
Congenital muscular dystrophy, Ullrich type

Synonym(s):
(no synonyms)

Synonym(s):
- Scleroatonic muscular dystrophy
- UCMD
- Ullrich disease

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 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.