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.
infores:orphanet
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| orphanet.portal | Orphanet Portal | www.orpha.net | GraphicalInterface | http | Main Orphanet portal for rare disease... |
| orphanet.orphadata_science | Orphadata Science Portal | sciences.orphadata.com | GraphicalInterface | http | Orphadata Science portal for Orphanet... |
| orphanet.scientific_knowledge_files | Orphanet Scientific Knowledge Files | orphanet-scientific-knowledge-files | Product | xml | Orphanet scientific knowledge files f... |
| orphanet.ordo_release | ORDO Release Page | ordo | DocumentationProduct | http | Current Orphadata Science page for th... |
| 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 | http | Contact point for API-mediated or req... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| disgenet.data | DisGeNET Data | www.disgenet.com | GraphProduct | ❔ | had primary source | DisGeNET data, including gene to dise... |
| genecards.disease.associations ⚠ | GeneCards Disease Associations | www.genecards.org | Product | http | had primary source | Disease association data integrated f... |
| medgen.ordo-history | ORDO CUI History | ORDO_CUI_history.txt (1.1 MB) | Product | txt | had primary source | History file tracking changes to Orph... |
| raras.portal | Raras Portal | raras.org | GraphicalInterface | http | was informed by | Main Raras portal for searching rare ... |
| raras.encyclopedia | Raras Encyclopedia | explorar | GraphicalInterface | http | was informed by | Rare disease encyclopedia for browsin... |
| oregano.graph | OREGANO Knowledge Graph | Graphs | GraphProduct | http | was derived from | The OREGANO knowledge graph dataset i... |
| eram.web | eRAM Web Interface | eram | GraphicalInterface | http | was informed by | Web-based interface for browsing and ... |
| eram.downloads | eRAM Data Downloads | download.php | Product | mixed | was derived from | Downloadable data files containing ra... |
| biobtree.api | BioBTree REST API | api | ProgrammingInterface | http | had primary source | REST API for searching identifiers an... |
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; the current Orphadata Science pages checked during this curation listed December 2025 releases for the scientific knowledge files and ORDO 4.8.
Created: July 10, 2025 | Last modified: June 02, 2026