Registry Genetics Home Reference

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
Keywords: gene
Links: Homepage

Identifier Standards

Pattern for Local Unique Identifiers: Missing LUI pattern
Example Local Unique Identifier: saddan Resolve
Example CURIE: ghr:saddan

Contacts

Contact: Missing Contact
Contributors: submitter Charles Tapley Hoyt 0000-0003-4423-4370 cthoyt

Metaregistry Genetics Home Reference

The metaregistry provides mappings between the Semantic Farm and other registries. There are 1 mappings to external registries for this resource with 1 unique external prefixes.

Registry Name	Registry Metaprefix	External Prefix	Curate
Prefix Commons	`prefixcommons`	`ghr`

Providers

Suggest

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. Some providers may use a different example, which is displayed in the table below. 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

Extra Providers

Additional providers curated in the Semantic Farm are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.

Code	Name	URL
`bio2rdf`	Bio2RDF	http://bio2rdf.org/ghr:saddan

This name annotation was originally annotated in Bioregistry and is redistributed under the CC0 license.

Get the name:

>>> import bioregistry as br
>>> br.get_name("ghr")
'Genetics Home Reference'

Get the homepage:

>>> import bioregistry as br
>>> br.get_homepage("ghr")
'https://medlineplus.gov/genetics/condition'