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
orpha- Preferred Prefix
ORPHA- Alternative Prefixes
- orphanet Orphanet
- Keywords
- disease drug human life science ontology ontology and terminology
- License
- CC-BY-4.0
- Links
- Homepage OWL
- Contact
- Marc Hanauer 0000-0002-6758-2506 Orphanet
- Pattern for Local Unique Identifiers
-
Local identifiers in Orphanet should match this regular expression:
^C?\d+$ - Example Local Unique Identifier
- 85163 Resolve
- Pattern for CURIES
-
Compact URIs (CURIEs) constructed from Orphanet should match this regular expression:
^ORPHA:C?\d+$ - Example CURIE
- ORPHA:85163
- Publications
- 2008 [Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]
- Contributors
-
- contributor Nicolas Matentzoglu 0000-0002-7356-1779 matentzn
Ontology
A summary of the relations in the Semantic Farm schema can be found here.
- Has incoming URI collisions
-
The following resources share a URI format string with
orpha:
orphanet.ordoWhen generating an extended prefix map, their respective CURIE prefixes and URI prefixes are merged into the record for
orpha. If you believe that these are distinct semantic spaces and should not be merged, please open a new issue on the Semantic Farm issue tracker for discussion. - In Collection
- Global Biodata Coalition - Global Core Biodata Resources Synapse.org external links
Metaregistry Orphanet
The metaregistry provides mappings between the Semantic Farm and other registries. There are 10 mappings to external registries for this resource with 6 unique external prefixes.
| Registry Name | Registry Metaprefix | External Prefix | Curate |
|---|---|---|---|
| BioContext | biocontext |
Orphanet
|
|
Biolink
|
biolink |
orphanet
|
|
FAIRSharing
|
fairsharing |
FAIRsharing.6bd5k6
|
|
Integbio
|
integbio |
nbdc01422
|
|
Identifiers.org
|
miriam |
orphanet
|
|
N2T
|
n2t |
orphanet
|
|
Prefix Commons
|
prefixcommons |
orphanet
|
|
UniProt
|
uniprot |
DB-0068
|
|
Wikidata
|
wikidata |
P1550
|
|
|
Wikidata (E)
|
wikidata.entity |
Q929833
|
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. Some providers may use a different example, which is displayed in the table below.
A guide for curating additional providers can be found
here.
| Name | Metaprefix | URI |
|---|---|---|
| Orphanet | orpha |
http://www.orpha.net/ORDO/Orphanet_85163 |
| Bioregistry | bioregistry |
https://bioregistry.io/orpha: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 Semantic Farm are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.
| Code | Name | URL |
|---|---|---|
|
Bio2RDF | http://bio2rdf.org/orphanet:85163 |
bio2rdf |
Bio2RDF | http://bio2rdf.org/orphanet:85163 |