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.

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

The metaregistry provides mappings between the Bioregistry and other registries. There are 5 mappings to external registries for orphanet.

Registry Name Metaprefix External Prefix
Identifiers.org miriam orphanet
Name-to-Thing n2t orphanet
Prefix Commons prefixcommons Orphanet
UniProt Cross-ref database uniprot Orphanet
Wikidata Property 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