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

The metaregistry provides mappings between the Bioregistry and other registries. There are 5 mappings to external registries for medgen.

Registry Name Metaprefix External Prefix
Biolink Model Registry biolink medgen miriam medgen
Name-to-Thing n2t medgen
National Center for Biotechnology Information Registry ncbi MedGen
Prefix Commons prefixcommons MedGen

Providers are various services that resolve CURIEs to URLs. The example CURIE medgen:760050 is used to demonstrate the provides available for medgen. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

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