appears_in: []
contact:
  email: bliemsl@xs4all.nl
  name: Spencer L. Liem
  orcid: 0000-0002-1575-9365
depends_on: []
deprecated: false
description: 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.
download_owl: http://www.orphadata.org/data/ORDO/ordo_orphanet.owl
example: '85163'
example_extras: []
homepage: http://www.orpha.net/consor/
keywords:
- disease
- drug
- human
- life science
- ontology
- ontology and terminology
license: CC-BY-4.0
mappings:
  biocontext: Orphanet
  biolink: orphanet
  fairsharing: FAIRsharing.6bd5k6
  integbio: nbdc01422
  miriam: orphanet
  n2t: orphanet
  prefixcommons: orphanet
  uniprot: DB-0068
  wikidata: P1550
name: Orphanet
namespace_in_lui: false
pattern: ^\d+$
preferred_prefix: orphanet
prefix: orphanet
providers:
- code: CURATOR_REVIEW
  description: Bio2RDF
  homepage: http://orphanet.bio2rdf.org/fct
  name: Bio2RDF
  uri_format: http://orphanet.bio2rdf.org/describe/?url=http://bio2rdf.org/orphanet:$1
- code: bio2rdf
  description: Bio2RDF is an open-source project that uses Semantic Web technologies
    to build and provide the largest network of Linked Data for the Life Sciences.
    Bio2RDF defines a set of simple conventions to create RDF(S) compatible Linked
    Data from a diverse set of heterogeneously formatted sources obtained from multiple
    data providers.
  homepage: https://bio2rdf.org
  name: Bio2RDF
  uri_format: http://bio2rdf.org/orphanet:$1
publications:
- pubmed: '19058507'
  title: '[Orphanet and the Dutch Steering Committee Orphan Drugs. A European and
    Dutch databank of information on rare diseases]'
  year: 2008
synonyms:
- ORPHA
twitter: orphanet
uri_format: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=$1
