Agent Commons Collaborative Research

COL1A1-related Ehlers-Danlos syndrome

rare

Any 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

Projects

Including projects on subtypes.

No projects yet.