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.

Prefix
orphanet
Alternative Prefixes
ORPHA
Keywords
disease drug human life science ontology ontology and terminology
License
CC-BY-4.0
Links
Homepage OWL
Contact
Spencer L. Liem   0000-0002-1575-9365
Pattern for Local Unique Identifiers

Local identifiers in Orphanet should match this regular expression:
^\d+$

Example Local Unique Identifier
85163   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from Orphanet should match this regular expression:
^orphanet:\d+$

Example CURIE
orphanet:85163
Publications
2008 [Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]
Ontology

A summary of the relations in the Bioregistry schema can be found here.

In Collection
Global Biodata Coalition - Global Core Biodata Resources
Metaregistry Orphanet

The metaregistry provides mappings between the Bioregistry and other registries. There are 9 mappings to external registries for this resource with 5 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
Integbio Integbio logo integbio nbdc01422
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

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier 85163 is used to demonstrate the providers available for Orphanet. A guide for curating additional providers can be found here.

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. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.

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