The Orphanet Rare Disease Ontology constitutes the official ontology of rare diseases produced and maintained by Orphanet (INSERM, US14).
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Direct access to our sparql endpoint
Our sparql Endpoint is in a beta test phase. Beware if you want to use it in a production environment
Getting a concept label from Orphanumber send the query
Getting a concept label and alternative term from Orphanumber send the query
Getting the genetic material linked to more than 10 disorders send the query
Getting the label and mapping information about a concept send the query
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