Registry Genetics Home Reference
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MedlinePlus Genetics contains detailed information about the effects of genetic variation on human health, covering more than 1,300 genetic conditions and 1,400 genes, all of the human chromosomes, and mitochondrial DNA (mtDNA).

Prefix
ghr
Links
Homepage
Contact
Missing Contact
Pattern for Local Unique Identifiers
Missing LUI pattern
Example Local Unique Identifier
saddan   Resolve
Example CURIE
ghr:saddan
Contributors
Providers
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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 saddan is used to demonstrate the providers available for Genetics Home Reference. A guide for curating additional providers can be found here.

Name Metaprefix URI
Genetics Home Reference ghr https://medlineplus.gov/genetics/condition/saddan
Bioregistry bioregistry https://bioregistry.io/ghr:saddan