is a Data Source.
Orphanet is a unique resource for information and data on rare diseases and orphan drugs, aimed at improving diagnosis, care, and treatment of patients with rare diseases. It maintains the Orphanet rare disease nomenclature (ORPHAcodes), which is essential for improving the visibility of rare diseases in health and research information systems.
biomedical, clinical
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| orphanet.expertcenters | Expert Centers Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.expertcentersnetworks | Expert Centers Networks Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.diagnostictests | Diagnostic Tests and Laboratories Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.patientorganizations | Patient Organizations Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.patientorganizationsnetworks | Patient Organizations Networks Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.researchprojects | National Research Projects Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.researchprojectsnetworks | Multinational Research Projects Networks Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.clinicaltrials | National Clinical Trials Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.clinicaltrialsnetworks | Multinational Clinical Trials Networks Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.patientregistries | Patient Registries Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.patientregistriesnetworks | Patient Registries Networks Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.biobanks | Biobanks Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.biobanksnetworks | Biobanks Networks Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.orphandrugs | Orphan Drugs Dataset | expert-resources | Product | xml | XML dataset containing information on... |
| orphanet.orphadataapi | Orphadata API | contact | ProgrammingInterface | ❔ | APIs providing access to Orphanet sci... |
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| disgenet.data | DisGeNET Data | www.disgenet.com | GraphProduct | ❔ | DisGeNET data, including gene to dise... |
| genecards.disease.associations ⚠ | GeneCards Disease Associations | www.genecards.org | Product | http | Disease association data integrated f... |
| medgen.ordo-history | ORDO CUI History | ORDO_CUI_history.txt (1.1 MB) | Product | txt | History file tracking changes to Orph... |
Orphanet is a unique resource gathering and improving knowledge on rare diseases to enhance diagnosis, care, and treatment of patients with rare diseases. It aims to provide high-quality information on rare diseases and ensure equal access to knowledge for all stakeholders.
Established in France by INSERM (French National Institute for Health and Medical Research) in 1997, Orphanet has evolved into a European endeavor, gradually growing to a Consortium of 40 countries worldwide. The Orphanet database contains information on:
ORDO is a structured vocabulary for rare diseases derived from the Orphanet database. It captures relationships between diseases, genes, and other relevant features, providing integrated, re-usable data for computational analysis. The ontology is maintained by Orphanet and follows OBO guidelines.
The Orphanet nomenclature is a multilingual, standardized, controlled medical terminology specific to rare diseases. Each clinical entity is associated with a unique numerical identifier (ORPHAcode), preferred term, synonyms, and definition. The nomenclature pack includes files for implementing ORPHAcodes in health information systems.
This comprehensive collection of datasets provides structured information about rare diseases, including:
Orphadata Science (which includes ORDO and the scientific knowledge files) has been recognized as:
All Orphanet data resources are available under the Creative Commons Attribution 4.0 International (CC BY 4.0) license, making them freely accessible for research and implementation. Data are updated bi-annually in July and December.
Created: July 10, 2025 | Last modified: July 10, 2025