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

Missing Contact

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]

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

In Collection

Global Biodata Coalition - Global Core Biodata Resources

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.

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.

Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.