{"prefix":"orpha","name":"Orphanet","description":"Orphanet is a reference portal for information on rare diseases and orphan drugs. It’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.","pattern":"^C?\\d+$","uri_format":"http://www.orpha.net/ORDO/Orphanet_$1","providers":[{"code":"","name":"Bio2RDF","description":"Bio2RDF","homepage":"http://bio2rdf.org/","uri_format":"http://bio2rdf.org/orphanet:$1"},{"code":"bio2rdf","name":"Bio2RDF","description":"Bio2RDF is an open-source project that uses Semantic Web technologies to build and provide the largest network of Linked Data for the Life Sciences. Bio2RDF defines a set of simple conventions to create RDF(S) compatible Linked Data from a diverse set of heterogeneously formatted sources obtained from multiple data providers.","homepage":"https://bio2rdf.org","uri_format":"http://bio2rdf.org/orphanet:$1"}],"homepage":"https://www.orpha.net","contact":{"name":"Marc Hanauer","orcid":"0000-0002-6758-2506","email":"marc.hanauer@inserm.fr","github":"Orphanet"},"owners":[{"ror":"02vjkv261","name":"Inserm, Hôpital Broussais, Paris"}],"example":"85163","example_extras":["478"],"license":"CC-BY-4.0","version":"4.8","download_owl":"http://www.orphadata.org/data/ORDO/ordo_orphanet.owl","deprecated":false,"mappings":{"biocontext":"Orphanet","biolink":"orphanet","integbio":"nbdc01422","miriam":"orphanet","n2t":"orphanet","ols":"ordo","prefixcommons":"orphanet","uniprot":"DB-0068","wikidata":"P1550","wikidata.entity":"Q929833"},"synonyms":["Orphanet","orphanet"],"keywords":["bibliography/documents","disease","drug","health/disease","human","ontology","organism-specific databases"],"publications":[{"pubmed":"19058507","title":"[Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]","year":2008},{"pubmed":"12655825"}],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"contributor_extras":[{"name":"Nicolas Matentzoglu","orcid":"0000-0002-7356-1779","email":"nicolas.matentzoglu@gmail.com","github":"matentzn"}],"preferred_prefix":"ORPHA","logo":"https://www.orpha.net/build/images/logo-orphanet.png"}