Rare disease databases
Orphadata / ORDO
Orphanet in machine-readable form
"Orphanet, ready for pipelines."
About the resource
Orphadata is the machine-readable distribution of the Orphanet data: monthly releases of XML and JSON files covering disease classifications, gene associations, epidemiology, clinical signs (HPO-aligned), natural history and orphan-drug status. The Orphanet Rare Disease Ontology (ORDO) is the OWL representation, structured for use in semantic-web and graph-database environments.
ORDO and Orphadata are used inside Mondo's harmonisation, by Open Targets and Monarch, and by most European rare-disease registries that need to operate against an authoritative nomenclature.
What you'd use it for
- 01Pull the full Orphanet dataset into a knowledge graph
- 02Use ORDO as the rare-disease vocabulary inside a research pipeline
- 03Cross-link clinical signs to HPO via Orphadata's phenotype annotations
- 04Map ORPHAcodes to ICD-10 systematically for billing or surveillance
How you access it
XMLJSONOWL (ORDO)Bulk monthly releases