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
Pattern for CURIES
Could not construct CURIE oattern
Example CURIE
ghr:saddan
Contributor
Charles Tapley Hoyt
Providers

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

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