MedGen is a portal for information about conditions and phenotypes related to Medical Genetics. Terms from multiple sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. The core content of the record may include names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder.

Prefix

medgen

Alternative Prefixes

medgen.uid

Keywords

bibliography/documents genome/gene health/disease ontology/terminology/nomenclature phenotype

Links

Homepage

References

GitHub PR https://github.com/biopragmatics/bioregistry/pull/1567

Pattern for Local Unique Identifiers

Local identifiers in MedGen should match this regular expression:
^(CN)?\d{2,7}$

Example Local Unique Identifiers

760050   Resolve
610   Resolve
CN970821   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from MedGen should match this regular expression:
^medgen:(CN)?\d{2,7}$

Example CURIEs

medgen:760050
medgen:610
medgen:CN970821

Contact

Megan S. Kane   0000-0001-5493-2602   kanems

Contributors

contributor Nicolas Matentzoglu   0000-0002-7356-1779   matentzn

Mappings from records in Bioregistry to external registries comprises the metaregistry. This resource has 7 mappings to external registries with 2 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 760050 is used to demonstrate the providers available for MedGen. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.