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Please note that orphadata.org will move to orphadata.com soon.
Both sites will coexist for a limited time
The Orphanet Rare Disease Ontology (ORDO) was jointly developed by Orphanet and the European Bioinformatics Institute (EMBL-EBI) to provide a structured vocabulary for rare diseases, capturing relationships between diseases, genes and other relevant features, forming a useful resource for the computational analysis of rare diseases.
Orphadata provides the scientific community with comprehensive, quality data sets related to rare diseases and orphan drugs from the Orphanet knowledge base, in reusable formats.
Orphanet maintains the Orphanet Rare Disease Ontology (ORDO), a structured, machine computable vocabulary for rare diseases derived from the Orphanet knowledge base. HOOM, the HPO-ORDO Ontological Module qualifies annotations between clinical entities (ORDO) and phenotypic abnormalities (HPO).
Currently, we are working to provide a SPARQL endpoint, based on the Blazegraph technology and allowing users to query our freely data sets.
Orphanet is the international reference knowledge base for rare diseases and orphan drugs. Orphanet provides freely-accessible information on rare diseases with the aim of helping improve the diagnosis, care and treatment of patients with rare diseases.
Deputy Director & Chief Technology Officer
Partnerships, Business Development & Strategic Communications Officer
Lead Technology Officer
We have chosen to apply the Commons Attribution 4.0 International (CC BY 4.0) to all copyrightable
parts of our databases. This means that you are free to copy, distribute, display and make commercial use of these databases in all legislations, provided you give us credit.
You must indicate if you have made changes to the data. This can be done so in a reasonable manner, but not in any way that suggests that Orphanet endorses you or your use.
You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
Please consult the terms of the licence for more information.
The appropriate form when quoting Orphanet is:
Orphanet: an online rare disease and orphan drug data base. © INSERM 1999.
Available on http://www.orpha.net. Accessed (date accessed).
The appropriate form when quoting Orphadata is:
Orphadata: Free access data from Orphanet. © INSERM 1999.
Available on http://www.orphadata.org. Data version (XML data version).
We make no warranties regarding the correctness of the data, and disclaim liability for damages resulting from its use.
Any medical or genetic information is provided for research, educational and informational purposes only. It is not in any
way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.
Data submitted through this website will never be shared with any third parties.