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 and terminology

Links

Homepage @orphanet

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].

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

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.

Additional providers curated in the Bioregistry are listed here.