{"prefix":"gard","name":"Genetic and Rare Diseases Information Center","description":"Database of rare diseases and related terms, including symptoms, healthcare resources, and organizations supporting research of the disease.","pattern":"^\\d+$","uri_format":"https://rarediseases.info.nih.gov/?gard_id=$1","providers":[{"code":"legacy","description":"This provider only accepts old-style GARD identifiers that are not zero-padded","uri_format":"https://rarediseases.info.nih.gov/diseases/$1/index"}],"homepage":"https://rarediseases.info.nih.gov/diseases","contact":{"name":"Eric Sid","orcid":"0000-0001-7697-3026","email":"eric.sid@nih.gov","github":"ericsid"},"example":"6038","example_extras":[],"download_owl":"https://w3id.org/biopragmatics/resources/gard/gard.owl","download_obo":"https://w3id.org/biopragmatics/resources/gard/gard.obo","download_json":"https://w3id.org/biopragmatics/resources/gard/gard.json","deprecated":false,"mappings":{"wikidata":"P4317"},"synonyms":["GARD","Genetic and Rare Diseases Information Center"],"keywords":["condition","disease","ontology","symptom"],"references":["https://github.com/biopragmatics/bioregistry/pull/2097"],"publications":[{"pubmed":"36394913","doi":"10.1080/02763869.2022.2131143","title":"Genetic and Rare Diseases Information Center (GARD)","year":2022},{"pubmed":"29152459","doi":"10.3233/trd-170011","pmc":"PMC5685198","title":"Marking 15 years of the Genetic and Rare Diseases Information Center","year":2017}],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"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 Moreover, not every GARD concept identifier has a published webpage, and an unpublished identifier silently lands on the GARD homepage rather than on an error page.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](https://github.com/biopragmatics/bioregistry/pull/2097)","contributor":{"name":"Charles Tapley Hoyt","orcid":"0000-0003-4423-4370","email":"cthoyt@gmail.com","github":"cthoyt"},"contributor_extras":[{"name":"Nicolas Matentzoglu","orcid":"0000-0002-7356-1779","email":"nicolas.matentzoglu@gmail.com","github":"matentzn"}],"preferred_prefix":"gard","logo":"https://rarediseases.info.nih.gov/assets/GARD_Logo_Mobile.svg"}