Orphanet portal for rare diseases and orphan drugs (academic access subset) - orphanet-academic

The grade for the resource as automatically determined by the criteria violations.
A full description of the resource from the resource itself, if possible.
Orphanet provides reference information on rare diseases and orphan drugs to help improve the diagnosis, care and treatment of patients with rare diseases.
Last curated
(Optional) The ISO 8601 date of when the resource was last curated.
URL for the resource.
Source type
(Optional) How the resource relates to the data it contains. Current allowable entries are: "unknown", "repository", "source", "integrator", and "warehouse".
Curation status
Whether or not annotation is complete on this resource. Current allowable entries are: "complete", "incomplete", and "nonpublic".
The area of research for the resource.
The type of data the resource contains.
(Optional) Tags to describe the resource and its data.
disease-gene association
disease-phenotype association
disease classification
clinical metadata
disease epidemiology
orphan drugs
(Optional) Links to the resource's data.
The license that is used by the resource. We use SPDX where we can or: "inconsistent", "public domain", "unlicensed", "all rights reserved", or "custom".
License type
The type of license that is being used. This will be to define compatible data pools in the future; we only use the grossest terms now. If it is not known "unknown" is used. Current possible values are: "unknown", "unlicensed", "copyleft", "permissive", "public domain", "copyright", "restrictive", or "private pool".
License location
(Optional) The link to the resource license.
Focused curation
(Optional) Setting this flag to true indicates that the licensing was combinatorially complicated enough (as is the case in some commercial licenses) that the curator chose to wear a single "hat" during the process. From the site text: "While we try to cover as much of the licensing possibilities of a data resource that we can, in a few cases we may choose a particular "hat" to wear while evaluating to prevent a combinatorial explosion, which may also reduce the clarity of our curations for the community. In these cases, we may take on the role of a (1) non-commercial (2) academic (3) group that is (4) based in the US and trying to (5) create an aggregating resource, noting that other entities may have different results in the license commentary."
(Optional) Structured issues with the license. For every issue discovered with a resource, there should be a corresponding item in the license-issues field that marks the /exact/ violation, along with any comments. This field can be used by resources as the first step to improvement, as well as clarify any surrounding circumstances. Any issues or thoughts about a resource that do not slot into one of the criteria violations can go into the license-commentary field.
Criteria A.2.2: Non-standard/custom license.
Criteria B.1: Section 11.1 of the DTA we looked at discusses the term of the agreement, which would have to be renewed approximately every year.
Criteria D.1.2: The user \"...may freely use the Data only for data analysis...any other use of the Data must receive the authorization of Orphanet management board...\"
Criteria E.1.2: The license is \"personal, non-transferable and non-communicable\", so cannot be freely reused.
(Optional) Further commentary on the license, possibly including the though process of the curations and things like locations of additional licenses.
• The was based on the Academic DTA from Orphanet; there is also a commercial version of the Data Transfer Agreement (DTA), but we will not evaluate that for the time being.
• Note that the license link above is to the contact request form as one must actively pursue the DTA--it was not apparently available directly from the site. Whether this is a A.1.2 violation is under consideration.
• Data access details are not known as we did not pursue the agreement; given the descriptions (http://www.orphadata.org/cgi-bin/docs/CataloguePdt-Academia.pdf) and evaluation for the free dataset, we have erred on the side that there are no C violations.
• Interestingly, the agreement is: \"...governed by French laws...French courts shall have sole jurisdiction for any litigation...\".
(Optional) Marker noting that there was some extended internal discussion or controversy about the evaluation of the licensing terms. If this is marked at "true", the controversy, or a link to a permanent archive of the controversy, must be sufficiently contained in the "license-commentary" to reconstruct the issues.
(Optional) Resource contact information, link, email, or whatever is public.
(Optional) Semi-structured list of supporting grants.
The European Commission funds the inventory of rare diseases, the encyclopaedia, and the collection of data on expert resources in European countries (since 2000, DG Health and Consumers Protection grant N°s S12.305098; S12.324970; SPC.2002269-2003220, 2006119, 20091215 and since 2004, DG Research and Innovation grant N°s LSSM-CT-2004-503246; LSHB-CT-2004-512148; LSHB-CT-2006-018933; Health-F2-2008-201230, HEALTH-F2-2009-223355, DG Santé grant 20133305-Operating Grant Orphanet). In 2014, the DG Santé grant 20102206 (Orphanet Europe Joint Action) was extended for one year without additional funding. In 2015, Orphanet participated in the ECRIN Integrating Activity (ECRIN-IA, 284395), funded by the European Union Framework Program 7.In 2016 Orphanet participated in the HIPBI-RD project (Erare Joint calls). Orphanet consortium is funded by the DG Santé grant RD-ACTION Joint Action 677024 (2015-2018).

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The (Re)usable Data Project is funded by the National Center for Advancing Translational Sciences (NCATS) OT3 TR002019 as part of the Biomedical Data Translator project and U24TR002306 as part of the CTSA Program National Center for Data to Health (CD2H).
The (Re)usable Data Project would like to acknowledge the assistance of many more people than can be listed here. Please visit the about page for the full list.