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.

Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in Human Medical Genetics should match this regular expression:

Example Local Unique Identifier
760050   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from Human Medical Genetics should match this regular expression:

Example CURIE
Metaregistry Human Medical Genetics

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.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext MedGen
Biolink Biolink Model Registry logo biolink medgen
Integbio Integbio logo integbio nbdc02560 logo miriam medgen
N2T Name-to-Thing logo n2t medgen
NCBI National Center for Biotechnology Information Registry logo ncbi MedGen
TogoID togoid Medgen

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.

Name Metaprefix URI
Human Medical Genetics medgen
Bioregistry bioregistry miriam
Name-to-Thing n2t