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Organisations: bioportal Tags: format-rdf ontology Licenses: Creative Commons Non-Commercial (Any)

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  • Orphanet Ontology of Rare Diseases

    OntoOrpha is an ontology of Rare Diseases that includes clinical signs (phenotypes) and genes. The full Orphanet nomenclature (labels, synonyms) is provided in six languages...
You can also access this registry using the API (see API Docs).