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Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems. Orphanet was established in France by the INSERM (French National Institute for Health and Medical Research) in 1997.This initiative became a European endeavour from 2000, supported by grants from the European Commission: Orphanet has gradually grown to a network of 36 countries, within Europe and across the globe. Orphanet is coordinated by INSERM US14 in Paris @inserm
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Revised Orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD) - Orphanet Journal of Rare Diseases

Revised Orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD) Orphanet Journal of Rare Diseases

Why Rare Diseases Still Go Undiagnosed - News-Medical

Why Rare Diseases Still Go Undiagnosed News-Medical

Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence - Orphanet Journal of Rare Diseases

Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence Orphanet Journal of Rare Diseases

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database - Nature

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database Nature

SANTE - - European Commission

SANTE - European Commission

Feasibility of disease terminology systems for mapping orphan conditions and therapeutic indications of designated orphan medicines in the European Union - ScienceDirect.com

Feasibility of disease terminology systems for mapping orphan conditions and therapeutic indications of designated orphan medicines in the European Union ScienceDirect.com

Comparative analysis of large language models on rare disease identification - Orphanet Journal of Rare Diseases

Comparative analysis of large language models on rare disease identification Orphanet Journal of Rare Diseases

Alström syndrome: the journey to diagnosis - Orphanet Journal of Rare Diseases

Alström syndrome: the journey to diagnosis Orphanet Journal of Rare Diseases

Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products - Orphanet Journal of Rare Diseases

Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products Orphanet Journal of Rare Diseases

Progression and mortality of patients with cystic fibrosis in China - Orphanet Journal of Rare Diseases

Progression and mortality of patients with cystic fibrosis in China Orphanet Journal of Rare Diseases

Expediting treatments in the 21st century: orphan drugs and accelerated approvals - Orphanet Journal of Rare Diseases

Expediting treatments in the 21st century: orphan drugs and accelerated approvals Orphanet Journal of Rare Diseases

Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project - Orphanet Journal of Rare Diseases

Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project Orphanet Journal of Rare Diseases

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems - Orphanet Journal of Rare Diseases

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems Orphanet Journal of Rare Diseases

The use of machine learning in rare diseases: a scoping review - Orphanet Journal of Rare Diseases

The use of machine learning in rare diseases: a scoping review Orphanet Journal of Rare Diseases

Turner Syndrome where are we? - Orphanet Journal of Rare Diseases

Turner Syndrome where are we? Orphanet Journal of Rare Diseases

Rare disorders have many faces: in silico characterization of rare disorder spectrum - Orphanet Journal of Rare Diseases

Rare disorders have many faces: in silico characterization of rare disorder spectrum Orphanet Journal of Rare Diseases

International Undiagnosed Diseases Programs (UDPs): components and outcomes - Orphanet Journal of Rare Diseases

International Undiagnosed Diseases Programs (UDPs): components and outcomes Orphanet Journal of Rare Diseases

Measuring the impact of rare diseases in Tasmania, Australia - Orphanet Journal of Rare Diseases

Measuring the impact of rare diseases in Tasmania, Australia Orphanet Journal of Rare Diseases

The national economic burden of rare disease in the United States in 2019 - Orphanet Journal of Rare Diseases

The national economic burden of rare disease in the United States in 2019 Orphanet Journal of Rare Diseases

An ontological foundation for ocular phenotypes and rare eye diseases - Orphanet Journal of Rare Diseases

An ontological foundation for ocular phenotypes and rare eye diseases Orphanet Journal of Rare Diseases

Orphanet & ERNs: working together to produce, improve and share knowledge on rare diseases - European Commission

Orphanet & ERNs: working together to produce, improve and share knowledge on rare diseases European Commission

Achondroplasia: a comprehensive clinical review - Orphanet Journal of Rare Diseases

Achondroplasia: a comprehensive clinical review Orphanet Journal of Rare Diseases

Estimating the clinical cost of drug development for orphan versus non-orphan drugs - Orphanet Journal of Rare Diseases

Estimating the clinical cost of drug development for orphan versus non-orphan drugs Orphanet Journal of Rare Diseases

Costs of orphan medicinal products: longitudinal analysis of expenditure in Wales - Orphanet Journal of Rare Diseases

Costs of orphan medicinal products: longitudinal analysis of expenditure in Wales Orphanet Journal of Rare Diseases

An analysis of orphan medicine expenditure in Europe: is it sustainable? - Orphanet Journal of Rare Diseases

An analysis of orphan medicine expenditure in Europe: is it sustainable? Orphanet Journal of Rare Diseases

A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study) - Orphanet Journal of Rare Diseases

A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study) Orphanet Journal of Rare Diseases

Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study - Orphanet Journal of Rare Diseases

Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study Orphanet Journal of Rare Diseases

Orphan medical devices have come a long way - Orphanet Journal of Rare Diseases

Orphan medical devices have come a long way Orphanet Journal of Rare Diseases

Guidelines for diagnosis and management of congenital central hypoventilation syndrome - Orphanet Journal of Rare Diseases

Guidelines for diagnosis and management of congenital central hypoventilation syndrome Orphanet Journal of Rare Diseases

Variables affecting pricing of orphan drugs: the Italian case - Orphanet Journal of Rare Diseases

Variables affecting pricing of orphan drugs: the Italian case Orphanet Journal of Rare Diseases

Diagnosis support systems for rare diseases: a scoping review - Orphanet Journal of Rare Diseases

Diagnosis support systems for rare diseases: a scoping review Orphanet Journal of Rare Diseases

Prevalence and healthcare burden of pulmonary alveolar proteinosis - Orphanet Journal of Rare Diseases

Prevalence and healthcare burden of pulmonary alveolar proteinosis Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases - Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases

Comparing access to orphan medicinal products in Europe - Orphanet Journal of Rare Diseases

Comparing access to orphan medicinal products in Europe Orphanet Journal of Rare Diseases

Future treatments for hereditary hemorrhagic telangiectasia - Orphanet Journal of Rare Diseases

Future treatments for hereditary hemorrhagic telangiectasia Orphanet Journal of Rare Diseases

A resource to explore the discovery of rare diseases and their causative genes - Nature

A resource to explore the discovery of rare diseases and their causative genes Nature

Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets - Orphanet Journal of Rare Diseases

Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets Orphanet Journal of Rare Diseases

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents - Orphanet Journal of Rare Diseases

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents Orphanet Journal of Rare Diseases

Natural history of Myhre syndrome - Orphanet Journal of Rare Diseases

Natural history of Myhre syndrome Orphanet Journal of Rare Diseases

The adult phenotype of Schaaf-Yang syndrome - Orphanet Journal of Rare Diseases

The adult phenotype of Schaaf-Yang syndrome Orphanet Journal of Rare Diseases

Our new Editor-in-Chief- Francesc Palau - Orphanet Journal of Rare Diseases

Our new Editor-in-Chief- Francesc Palau Orphanet Journal of Rare Diseases

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder - Orphanet Journal of Rare Diseases

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder Orphanet Journal of Rare Diseases

Expanding the clinical and genetic spectrum of Heimler syndrome - Orphanet Journal of Rare Diseases

Expanding the clinical and genetic spectrum of Heimler syndrome Orphanet Journal of Rare Diseases

Sanofi’s Rare Humanitarian Program Recognized as “Transformative” - Sanofi

Sanofi’s Rare Humanitarian Program Recognized as “Transformative” Sanofi

Rare Diseases: Over 300 Million Patients Affected Worldwide - Inserm

Rare Diseases: Over 300 Million Patients Affected Worldwide Inserm

Immunosuppressive drugs and fertility - Orphanet Journal of Rare Diseases

Immunosuppressive drugs and fertility Orphanet Journal of Rare Diseases

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet Journal of Rare Diseases

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Orphanet Journal of Rare Diseases

Rare Disease Day 2018: Show Your Rare. Show You Care. - Inserm

Rare Disease Day 2018: Show Your Rare. Show You Care. Inserm

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