This database aims to record all published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1 and PPIB genes.
This resource is a provider. This means that
while it may have its own prefix, it actually reuses the identifiers provided by the
prefix. For all use cases, you should use
The metaregistry provides mappings between the Bioregistry and other registries. There are 1 mappings to external registries for this resource with 1 unique external prefixes.
Providers are various services that resolve CURIEs to URLs. The example CURIE
is used to demonstrate the provides available for
this resource. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.
|Collagen Mutation Database
Additional providers curated in the Bioregistry are listed here.