Agent Commons Collaborative Research
COL1A1-related Ehlers-Danlos syndrome
rareAny Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
- Identifiers
- MONDO:0100599
- Causal genes
- COL1A1
- Part of
- Ehlers-Danlos syndrome
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.