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.

Alternative Prefixes
disease drug human life science ontology and terminology
Homepage @orphanet
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in Orphanet should match this regular expression:

Example Local Unique Identifier
85163   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from Orphanet should match this regular expression:

Example CURIE
2008 [Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases].
Metaregistry Orphanet

The metaregistry provides mappings between the Bioregistry and other registries. There are 8 mappings to external registries for orphanet with 4 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext Orphanet
Biolink Biolink Model Registry logo biolink orphanet
FAIRSharing FAIRSharing logo fairsharing FAIRsharing.6bd5k6
Identifiers.org Identifiers.org logo miriam orphanet
N2T Name-to-Thing logo n2t orphanet
Prefix Commons Prefix Commons logo prefixcommons orphanet
UniProt UniProt Cross-ref database logo uniprot DB-0068
Wikidata Wikidata Property logo wikidata P1550

Providers are various services that resolve CURIEs to URLs. The example CURIE orphanet:85163 is used to demonstrate the provides available for orphanet. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
Orphanet orphanet http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85163
Bioregistry bioregistry https://bioregistry.io/orphanet:85163
Identifiers.org miriam https://identifiers.org/orphanet:85163
Name-to-Thing n2t https://n2t.net/orphanet:85163
Extra Providers

Additional providers curated in the Bioregistry are listed here.

Code Name URL
CURATOR_REVIEW Bio2RDF http://orphanet.bio2rdf.org/describe/?url=http://bio2rdf.org/orphanet:85163