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.
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| orphanet.portal | Orphanet Portal | www.orpha.net | Graphical Interface | http | Main Orphanet portal for rare disease... |
| orphanet.orphadata_science | Orphadata Science Portal | sciences.orphadata.com | Graphical Interface | 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 | Documentation | 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 | Programming Interface | http | Contact point for API-mediated or req... |
| orphanet.nomenclature | Orphanet Nomenclature Pack | pack-nomenclature | Data Model | mixed | The Orphanet nomenclature pack provid... |
| orphanet.orphacode_api | ORPHAcodes API | api.orphacode.org | Programming Interface | http | API for accessing the Orphanet nomenc... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| disgenet.data | DisGeNET Data | www.disgenet.com | Graph | http | 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 | Graphical Interface | http | was informed by | Main Raras portal for searching rare ... |
| raras.encyclopedia | Raras Encyclopedia | explorar | Graphical Interface | http | was informed by | Rare disease encyclopedia for browsin... |
| oregano.graph | OREGANO Knowledge Graph | Graphs | Graph | http | was derived from | The OREGANO knowledge graph dataset i... |
| eram.web | eRAM Web Interface | eram | Graphical Interface | 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 | Programming Interface | http | had primary source | REST API for searching identifiers an... |
| genecards.web.interface | GeneCards Web Interface | www.genecards.org | Graphical Interface | http | had primary source | Web-based interface for searching and... |
| biobtree.graph.human-subgraph | BioBTree Knowledge Graph - Human Subgraph (KGX) | 20816742 | Graph | kgx | had primary source | Human-scoped, Neo4j-ready subgraph of... |
| kg-ebi-gene2pheno.nodes.kgx | EBI gene2pheno KGX nodes | EBIgene2pheno_kgx_nodes.jsonl (60.7 KB) | Graph | kgx-jsonl | was derived from | KGX nodes file for EBI Gene2Phenotype KG |
| kg-ebi-gene2pheno.edges.kgx | EBI gene2pheno KGX edges | EBIgene2pheno_kgx_edges.jsonl (130.0 KB) | Graph | kgx-jsonl | was derived from | KGX edges file for EBI Gene2Phenotype KG |
| kg-ebi-gene2pheno.edges.trapi | EBI gene2pheno TRAPI edges | EBIgene2pheno_trapi_edges.jsonl (138.7 KB) | Graph | trapi-jsonl | was derived from | TRAPI edges file for EBI Gene2Phenoty... |
| kg-idg.graph ⚠ | KGX Distribution of KG-IDG | kg-idg.tar.gz | Graph | kgx | had primary source | KGX Distribution of KG-IDG |
| sri-reference-kg.graph | SRI-Reference KG (KGX distribution) | monarch-kg.tar.gz (219.4 MB) | Graph | kgx | had primary source | KGX distribution of the SRI-Reference KG |
| ncatsgardkg.graph | NCATS GARD Knowledge Graph | processed | Graph | http | was influenced by | Integrated rare-disease knowledge gra... |
| medgen.mgdef | MGDEF (Definitions) | MGDEF.RRF.gz (5.1 MB) | Product | txt | had primary source | Rich Release Format (RRF) file contai... |
| medgen.id-mappings | MedGen ID Mappings | MedGenIDMappings.txt.gz (5.5 MB) | Mapping | txt | had primary source | Mappings between MedGen CUIs and exte... |
| medgen.csv | CSV Data Files | csv | Product | csv | had primary source | CSV format data files directory with ... |
| babel.compendia | Babel Compendia | compendia | Product | json | had primary source | Babel compendia, one file per Biolink... |
| dbnsfp.academic | dbNSFP Academic Branch | download | Product | tsv | had primary source | Academic branch of dbNSFP (v5.4a at t... |
| dbnsfp.commercial | dbNSFP Commercial Branch | license | Product | tsv | had primary source | Commercial branch of dbNSFP (v5.4c at... |
| bbmri-eric-directory.csv | BBMRI-ERIC Directory CSV Export | zip (0 B) | Product | csv | was influenced by | Full export of the Directory's ERIC s... |
| bbmri-eric-directory.ttl | BBMRI-ERIC Directory RDF Export | ttl (0 B) | Graph | ttl | was influenced by | RDF export of the Directory's ERIC sc... |
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: September 23, 2026