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

Links

Homepage

Contact

Missing Contact

Pattern for Local Unique Identifiers

Local identifiers in Human Medical Genetics should match this regular expression:
^[CN]*\d{4,7}$

Example Local Unique Identifier

760050   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from Human Medical Genetics should match this regular expression:
^medgen:[CN]*\d{4,7}$

Example CURIE

medgen:760050

The metaregistry provides mappings between the Bioregistry and other registries. There are 7 mappings to external registries for this resource 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 Human Medical Genetics. A guide for curating additional providers can be found here.