Edition of 31 January 2019

Orphanet has been part of the French node of ELIXIR, the French Institute for Bioinformatics, since 2015. Orphanet provides, within the range of its services, free to use scientific datasets accessible via its platform Orphadata. It includes the Orphanet nomenclature of rare diseases, classifications and cross-referencing with other terminologies; phenotype and genotype annotations, epidemiological annotations; as well as ORDO, the Orphanet Rare Disease Ontology, and HOOM, an ontological module to combine ORDO and HPO (Human Phenotype Ontology). The nomenclature and ORDO are available in various languages.

In December 2018, the ELIXIR Heads of Nodes chose Orphadata’s free datasets to be part of ELIXIR Core Data Resource. This acknowledges the critical importance of the data Orphanet makes available to the life science research community.

The ELIXIR Core Data Resources are a set of European data resources of fundamental importance to the wider life-science community and the long-term preservation of biological data.These resources include services such as data platforms and knowledge bases that are authoritative in their field of expertise.  Orphadata was added to this list after a detailed study conducted by an independent panel of reviewers following Orphanet’s decision to adopt a more open licence, compatible with Open Science principles (Creative Commons BY-4.0, compatible with the French License LOV2). The criteria and selection process details are described in “Identifying ELIXIR Core Data Resources”.

The knowledge bases singled out as Core Resources, to which Orphanet now belongs, work as « conceptual authorities » with a clear role in the standardisation of evolving concepts. Orphanet will play this role for rare diseases within the scientific community.  The Core Data Resources are also at the core of ELIXIR’s long-term sustainability strategy as a European infrastructure for information and life sciences data. ELIXIR aims to ensure that these resources are available long-term and that the life-cycles of these resources are managed such that they support the scientific needs of the life-sciences, including biological research.

Ana Rath, Orphanet Director said: “It is really an honour to see Orphadata among the ELIXIR Core Data Resources, it is also a recognition of the work of the Orphanet consortium. Since its inception in 1997, Orphanet has become the reference source of manually curated and expert reviewed rare disease information. Free-access Orphadata is a crucial part of the Orphanet platform that directly contributes to the Open Science principles endorsed by ELIXIR, giving access to large volumes of computable and reusable life science data.”

Niklas Blomberg, ELIXIR Director said: “ELIXIR Core Data Resources are the key component of the open data infrastructure that ELIXIR is building. They are is the backbone of ELIXIR’s strategy for sustainable data resources and it also drives our Open Access policy. I am very pleased to see Orphanet opening up their data: as a world leading resource for rare disease research, it is a valuable addition to our list of the ELIXIR Core Data Resources.”

Aware of the challenges and responsibility of being named as an ELIXIR Core Resource, Orphanet will pursue its work to develop and maintain quality standards for its scientific data and will move forward to adopt FAIR data principles.