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Orphanet

General Information

Orphanet is the reference resource for information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet maintains the Orphanet nomenclature, essential for interoperability, and the Orphanet Rare Disease Ontology (ORDO).

Homepage http://www.orpha.net/consor/cgi-bin/index.php?lng=EN

Countries that developed this resource European Union , France

Created in 1997

Taxonomic range

Homo sapiens

Knowledge Domains

Subjects

How to cite this record FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Sep 25 2021 12:25 p.m.

This record is maintained by CharlotteRodwell

Record updated: Feb. 21, 2019, 2:26 p.m. by CharlotteRodwell.

Show edit history

Edits to 'https://fairsharing.org/FAIRsharing.6bd5k6' by 'CharlotteRodwell' at 14:26, 21 Feb 2019 (approved):

	'licences' has been modified:
		Before:
			Creative Commons Attribution-NoDerivs 3.0 Unported (CC BY-ND 3.0)|https://creativecommons.org/licenses/by-nd/3.0/|Data
		After:
			Creative Commons Attribution 4.0 International (CC BY 4.0)|https://creativecommons.org/licenses/by/4.0/|Data
		Added:
			Creative Commons Attribution 4.0 International (CC BY 4.0)|https://creativecommons.org/licenses/by/4.0/|Data
		Removed:
			Creative Commons Attribution-NoDerivs 3.0 Unported (CC BY-ND 3.0)|https://creativecommons.org/licenses/by-nd/3.0/|Data

	'grants' has been modified:
		Before:
			677024
			E-Rare 3
		After:
			831390
			E-Rare 3
		Added:
			831390
		Removed:
			677024

Edits to 'https://fairsharing.org/FAIRsharing.6bd5k6' by 'The FAIRsharing Team' at 11:07, 11 Jul 2017 (approved):

	'homepage' has been modified:
		Before: http://www.orpha.net/consor/cgi-bin/home.php?Lng=GB
		After: http://www.orpha.net/consor/cgi-bin/index.php?lng=EN Organisations have changed:  Previous values: European Union 3rd Health Programme | Undefined | Funds National Agency of Research (ANR)|France | Undefined | Funds Institut National de la Sant et de la Recherche Mdicale (INSERM)|France | Undefined | Maintains New values:  European Union 3rd Health Programme | Government body | Funds National Agency of Research (ANR)|France | Government body | Funds Institut National de la Sant et de la Recherche Mdicale (INSERM)|France | Undefined | Maintains

Edits to 'https://fairsharing.org/FAIRsharing.6bd5k6' by 'CharlotteRodwell' at 16:50, 20 Mar 2017 (approved):

	'description' has been modified:
		Before: Orphanet is a database of information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases.
		After: Orphanet is the reference resource for information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet maintains the Orphanet nomenclature, essential for interoperability, and the Orphanet Rare Disease Ontology (ORDO).

Edits to 'https://fairsharing.org/FAIRsharing.6bd5k6' by 'The FAIRsharing Team' at 16:38, 07 Nov 2016 (approved):

	'name' has been modified:
		Before: Orphanet; a database dedicated to information on rare diseases and orphan drugs
		After: Orphanet Domain list has changed:  Previous values: Disease|information content entity|http://ontology.neuinfo.org/NIF/Backend/BIRNLex-OBI-proxy.owl#birnlex_11013 Drug|material|http://purl.obolibrary.org/obo/CHEBI_23888 Human|| Life Science|domain| New values:  Disease|information content entity|http://ontology.neuinfo.org/NIF/Backend/BIRNLex-OBI-proxy.owl#birnlex_11013 Drug|material|http://purl.obolibrary.org/obo/CHEBI_23888 Human|| Life Science|domain| Rare disease|None|

Edits to 'https://fairsharing.org/FAIRsharing.6bd5k6' by 'The FAIRsharing Team' at 18:41, 04 Oct 2016 (approved):

	'year' has been modified:
		Before: None
		After: 1998 Domain list has changed:  Previous values: Disease|information content entity|http://ontology.neuinfo.org/NIF/Backend/BIRNLex-OBI-proxy.owl#birnlex_11013 Drug|material|http://purl.obolibrary.org/obo/CHEBI_23888 Human|| New values:  Disease|information content entity|http://ontology.neuinfo.org/NIF/Backend/BIRNLex-OBI-proxy.owl#birnlex_11013 Drug|material|http://purl.obolibrary.org/obo/CHEBI_23888 Human|| Life Science|domain| Tools have changed:  Previous values: submit search advanced search advanced search New values:  Data processes have changed:  Previous values: Download New values:  Download submit search advanced search advanced search

In Collections

EOSC-Life

ELIXIR Core Data Resources and Deposition Databases

Support

General

support email	Contact email
online documentation	http://www.orpha.net/consor/cgi-bin/
training	Orphanet Tutorials
twitter	@orphanet

Additional Information

Contact

partnerships.orphanet@inserm.fr

Tools

Orphadata	http://www.orphadata.org/cgi-bin/index.php/
ORDO	http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php	2

Access / Retrieve Data

Conditions of Use

Applies to: Data use

Creative Commons Attribution 4.0 International (CC BY 4.0)

Data Curation

Submit

http://www.orpha.net/consor/cgi-bin/Directory_RegisterActivity.php?lng ...

Data Access

Download	http://www.orphadata.org/cgi-bin/index.php
Search	http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN

Publications

[Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases].

Liem SL.,
Ned Tijdschr Tandheelkd 2008

View Paper (PubMed)

Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined

Related Databases

Implementing Policies

This record is not implemented by any policy.

Credit

Record Maintainer

This record is maintained by CharlotteRodwell

Funds

National Agency of Research (ANR), Paris, France (Government body)
European Union (EU) (Government body)

Maintains

Institut National de la Sante et de la Recherche Medicale (INSERM), Paris, France (Research institute)

Grant Number(s)

831390 (European Union (EU))
E-Rare 3 (National Agency of Research (ANR), Paris, France)

Orphanet

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