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 hgnc.symbol prefix. For all use cases, you should use hgnc.symbol instead of collagenmutdb.

Prefix

collagenmutdb

Keywords

gene

Links

Homepage

Contact

Missing Contact

Pattern for Local Unique Identifiers

Missing LUI pattern

Example Local Unique Identifier

COL3A1   Resolve

Example CURIE

collagenmutdb:COL3A1

Reviewer

Charles Tapley Hoyt   0000-0003-4423-4370   cthoyt

A summary of the relations in the Bioregistry schema can be found here.

Provides

hgnc.symbol

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.

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier COL3A1 is used to demonstrate the providers available for Collagen Mutation Database. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.

Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.