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README.md

README.md

Development or adaption of tools to apply bioschemas to Orphanet website and datasets output for the rare diseases community.

Representative: Marc Hanauer

Community


Orphanet INSERM US14 - Elixir FR - WP8 Excelerate (Rare Diseases)

Leads


Marc Hanauer

Background information


Orphanet is a website dedicated to rare diseases, providing several kind of information such nomenclature, classifications, textual information, disorders/genes relations and also dedicated resources in the field (Experts centres, Diagnostic tests, clinical trials, orphandrugs, registries and biobanks, supports groups etc.) for more than 40 countries. The site has a huge audience, around 1 million unique visitors/month and 8 languages. Orphanet produce also the Orphanet Rare Diseases Ontology and clinical description of diseases using HPO ontology. Each disease concept has a unique, stable, identifier (Orphacode) which could be used to identify diseases in health information system. The orphacode has been integrated in several countries.

Expected outcomes


Integration of bioschemas in the Orphanet website framework or dataset output will ease the findability of rare diseases information. It will be also a nice implementation exemple in a website of such audience.

Expected audience


Programmers, ontologists (not mandatory, but usefull based on ORDO/HPO possibles uses). Python/PHP, RDF/OWL Expected hacking days: 3 days

Related works and references


GitHub or any other public repositories of your FOSS products (if any)


Hackers


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