{"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/diseases/$1/index","providers":[],"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"],"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":[],"contributor":{"name":"Charles Tapley Hoyt","orcid":"0000-0003-4423-4370","email":"cthoyt@gmail.com","github":"cthoyt"},"preferred_prefix":"gard","logo":"https://rarediseases.info.nih.gov/assets/GARD_Logo_Mobile.svg"}