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.
Local identifiers in Human Medical Genetics should match this
Compact URIs (CURIEs) constructed from Human Medical Genetics should match
this regular expression:
The metaregistry provides mappings between the Bioregistry and other registries. There are
5 mappings to external registries for
|Registry Name||Metaprefix||External Prefix|
|Biolink Model Registry||
|National Center for Biotechnology Information Registry||
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.
|Human Medical Genetics||