Database of rare diseases and related terms, including symptoms, healthcare resources, and organizations supporting research of the disease.

Comment

Around September 2026, the GARD website was rebuilt and the previous per-disease URL format (https://rarediseases.info.nih.gov/diseases/$1/index) does not resolve correctly formatted GARD ids. GARD accepts both bare identifiers (?gard_id=6038) and the zero-padded seven-digit form (?gard_id=0006038); both resolve to the same record. Moreover, not every GARD concept identifier has a published webpage, and an unpublished identifier silently lands on the GARD homepage rather than on an error page. See discussion here

Prefix

gard

Alternative Prefixes

Genetic and Rare Diseases Information Center GARD

Keywords

condition disease ontology symptom

Links

Homepage OBO OWL OBO JSON

Publications

2022 Genetic and Rare Diseases Information Center (GARD)

2017 Marking 15 years of the Genetic and Rare Diseases Information Center

References

GitHub PR https://github.com/biopragmatics/bioregistry/pull/2097

Pattern for Local Unique Identifiers

Local unique identifiers in Genetic and Rare Diseases Information Center should match this regular expression:
^\d+$

Example Local Unique Identifier

6038   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from Genetic and Rare Diseases Information Center should match this regular expression:
^gard:\d+$

Example CURIE

gard:6038

Contact

Eric Sid   0000-0001-7697-3026   ericsid

Contributors

creator Charles Tapley Hoyt   0000-0003-4423-4370   cthoyt

contributor Nicolas Matentzoglu   0000-0002-7356-1779   matentzn

A summary of the relations in the Bioregistry schema can be found here.

In Collection (1)

Synapse.org external links

Mappings from records in Bioregistry to external registries comprises the metaregistry. This resource has 1 mapping to an external registry.

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 6038 is used to demonstrate the providers available for Genetic and Rare Diseases Information Center. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.

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