Orphanet
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.
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patient organizations dedicated to rare diseases.", "format": "xml", "id": "orphanet.patientorganizations", "name": "Patient Organizations Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on patient organization networks for rare diseases.", "format": "xml", "id": "orphanet.patientorganizationsnetworks", "name": "Patient Organizations Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on national research projects focused on rare diseases.", "format": "xml", "id": "orphanet.researchprojects", "name": "National Research Projects Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on multinational research project networks for rare diseases.", "format": "xml", "id": "orphanet.researchprojectsnetworks", "name": "Multinational Research Projects Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on national clinical trials for rare diseases.", "format": "xml", "id": "orphanet.clinicaltrials", "name": "National Clinical Trials Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on multinational clinical trial networks for rare diseases.", "format": "xml", "id": "orphanet.clinicaltrialsnetworks", "name": "Multinational Clinical Trials Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on patient registries for rare diseases.", "format": "xml", "id": "orphanet.patientregistries", "name": "Patient Registries Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on patient registry networks for rare diseases.", "format": "xml", "id": "orphanet.patientregistriesnetworks", "name": "Patient Registries Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on biobanks dedicated to rare diseases.", "format": "xml", "id": "orphanet.biobanks", "name": "Biobanks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on biobank networks for rare diseases.", "format": "xml", "id": "orphanet.biobanksnetworks", "name": "Biobanks Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on orphan drugs for rare diseases, including substances with orphan designation and/or marketing authorization.", "format": "xml", "id": "orphanet.orphandrugs", "name": "Orphan Drugs Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "ProgrammingInterface", "description": "APIs providing access to Orphanet scientific knowledge, ORPHAcodes, and expert resources data.", "id": "orphanet.orphadataapi", "is_public": true, "name": "Orphadata API", "product_url": "https://www.orphadata.com/contact/"}, {"category": "GraphProduct", "description": "DisGeNET data, including gene to disease associations and variant to disease associations (requires registration and subscription).", "id": "disgenet.data", "name": "DisGeNET Data", "original_source": ["clingen", "clinvar", "mgd", "rgd", "orphanet", "psygenet", "uniprot", "disgenet", "hp", "gwascatalog", "phewascat", "ukbiobank", "finngen", "clinicaltrialsgov"], "product_url": "https://www.disgenet.com/", "secondary_source": ["disgenet"]}, {"category": "Product", "description": "Disease association data integrated from OMIM, MalaCards, ClinVar, Orphanet, DisGeNET and other disease databases", "format": "http", "id": "genecards.disease.associations", "name": "GeneCards Disease Associations", "original_source": ["omim", "malacards", "clinvar", "orphanet", "disgenet"], "product_url": "https://www.genecards.org/", "warnings": ["File was not able to be retrieved when checked on 2026-01-30_ HTTP 403 error when accessing file", "File was not able to be retrieved when checked on 2026-01-28_ HTTP 403 error when accessing file", "File was not able to be retrieved when checked on 2026-02-04: HTTP 403 error when accessing file"]}]
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It maintains the Orphanet rare disease nomenclature (ORPHAcodes), which is essential for improving the visibility of rare diseases in health and research information systems.", "domains": ["biomedical", "clinical"], "homepage_url": "https://www.orpha.net/", "id": "orphanet", "infores_id": "orphanet", "last_modified_date": "2025-07-10T00:00:00Z", "layout": "resource_detail", "name": "Orphanet", "products": [{"category": "Product", "description": "XML dataset containing information on expert centers dedicated to the medical management and/or genetic counselling for rare diseases.", "format": "xml", "id": "orphanet.expertcenters", "name": "Expert Centers Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on expert center networks for rare diseases.", "format": "xml", "id": "orphanet.expertcentersnetworks", "name": "Expert Centers Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on diagnostic tests and clinical laboratories for rare diseases.", "format": "xml", "id": "orphanet.diagnostictests", "name": "Diagnostic Tests and Laboratories Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on patient organizations dedicated to rare diseases.", "format": "xml", "id": "orphanet.patientorganizations", "name": "Patient Organizations Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on patient organization networks for rare diseases.", "format": "xml", "id": "orphanet.patientorganizationsnetworks", "name": "Patient Organizations Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML 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"xml", "id": "orphanet.clinicaltrialsnetworks", "name": "Multinational Clinical Trials Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on patient registries for rare diseases.", "format": "xml", "id": "orphanet.patientregistries", "name": "Patient Registries Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on patient registry networks for rare diseases.", "format": "xml", "id": "orphanet.patientregistriesnetworks", "name": "Patient Registries Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on biobanks dedicated to rare diseases.", "format": "xml", "id": "orphanet.biobanks", "name": "Biobanks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on biobank networks for rare diseases.", "format": "xml", "id": "orphanet.biobanksnetworks", "name": "Biobanks Networks Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "Product", "description": "XML dataset containing information on orphan drugs for rare diseases, including substances with orphan designation and/or marketing authorization.", "format": "xml", "id": "orphanet.orphandrugs", "name": "Orphan Drugs Dataset", "product_url": "https://www.orphadata.com/expert-resources/"}, {"category": "ProgrammingInterface", "description": "APIs providing access to Orphanet scientific knowledge, ORPHAcodes, and expert resources data.", "id": "orphanet.orphadataapi", "is_public": true, "name": "Orphadata API", "product_url": "https://www.orphadata.com/contact/"}, {"category": "GraphProduct", "description": "DisGeNET data, including gene to disease associations and variant to disease associations (requires registration and subscription).", "id": "disgenet.data", "name": "DisGeNET Data", "original_source": ["clingen", "clinvar", "mgd", "rgd", "orphanet", "psygenet", "uniprot", "disgenet", "hp", "gwascatalog", "phewascat", "ukbiobank", "finngen", "clinicaltrialsgov"], "product_url": "https://www.disgenet.com/", "secondary_source": ["disgenet"]}, {"category": "Product", "description": "Disease association data integrated from OMIM, MalaCards, ClinVar, Orphanet, DisGeNET and other disease databases", "format": "http", "id": "genecards.disease.associations", "name": "GeneCards Disease Associations", "original_source": ["omim", "malacards", "clinvar", "orphanet", "disgenet"], "product_url": "https://www.genecards.org/", "warnings": ["File was not able to be retrieved when checked on 2026-01-30_ HTTP 403 error when accessing file", "File was not able to be retrieved when checked on 2026-01-28_ HTTP 403 error when accessing file", "File was not able to be retrieved when checked on 2026-02-04: HTTP 403 error when accessing file"]}], "repository": "https://github.com/Orphanet", "taxon": ["NCBITaxon:9606"], "version": "July 2025"}