Explanipedia

The Orphanet Nomenclature of rare diseases: a standard terminology for improved patient recognition and data interoperability Open

Caterina Lucano, David Lagorce, Annie Olry, Houda Ali, Valérie Serrière-Lanneau , et al. · 2025

Although individually uncommon, rare diseases (RD) affect an estimated 300 million people worldwide. Establishing a public health approach to RD requires counting diseases and affected patients. However, RD are under-represented in medical…

Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project Open

Cèline Angin, Monica Mazzucato, Stefanie Weber, Kurt Kirch, Waed Abdel Khalek , et al. · 2024

Orphaid: A New Platform for Rare Genetic Intellectual Disabilities in Orphanet in Partnership with Ernithaca Open

Mutaz Amin, Valérie Serrière-Lanneau, Annie Olry, Christiane Zweier, Nicolas Chevrollier , et al. · 2023

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources Open

Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger , et al. · 2022

Terminology standardization, sharing of gene-disease validity classifications, and resolution of curation conflicts will facilitate collaborations across international curation efforts and in turn, improve consistency in genetic testing an…

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources Open

Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger , et al. · 2022

PURPOSE Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the …

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Open

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik , et al. · 2021

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Open

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik , et al. · 2021

Reply to E. Vicente et al. Open

Ana Rath, Deborah M. Lambert, Annie Olry, Charlotte Rodwell, Yann Le Cam · 2020

10th European Conference on Rare Diseases & Orphan Products (ECRD 2020) Open

Ciarán Scott, Elena Marcus, Douglas Thorburn, Patrick Stone, Bella Vivat , et al. · 2020

Aims:We are developing a new measure of quality of life (QoL), the UK-PSC-QoL, for people with primary sclerosing cholangitis (PSC), a rare incurable disease of the bile ducts and liver which can considerably impact QoL.Method: Following i…

Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes Open

Willie Chang, Pouria Mashouri, Alexander X. Lozano, Brittney Johnstone, Mia Husić , et al. · 2020

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes Open

Willie Chang, Pouria Mashouri, Alexander X. Lozano, Brittney Johnstone, Mia Husić , et al. · 2020

PRO147 MAPPING PROQOLID TO RARE DISEASES: A ON-GOING COLLABORATION BETWEEN MAPI RESEARCH TRUST AND ORPHANET Open

Benoît Arnould, C. Desvignes-Gleizes, L.L. Perrier, C. Acquadro, Charlotte Rodwell , et al. · 2019

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

Stéphanie Nguengang Wakap, Deborah M. Lambert, Annie Olry, Charlotte Rodwell, Charlotte Gueydan , et al. · 2019

Correction to: An ontological foundation for ocular phenotypes and rare eye diseases Open

Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson , et al. · 2019

Professor Michael Larsen, who is a member of the ERN-EYE Ontology Study Group and co-chair of Workgroup on Retinal Rare Eye Diseases (WG1), was inadvertently omitted from the author list in the Acknowledgements section of the original arti…

An ontological foundation for ocular phenotypes and rare eye diseases Open

Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson , et al. · 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources Open

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O.B. Jacobsen, Daniel Daniš , et al. · 2018

The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. …

Harmonising phenomics information for a better interoperability in the rare disease field Open

Sylvie Maiella, Annie Olry, Marc Hanauer, Valérie Serrière-Lanneau, Halima Lourghi , et al. · 2018

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases Open

Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya , et al. · 2017

The Human Phenotype Ontology in 2017 Open

Sebastian Köhler, Nicole Vasilevsky, Mark Engelstad, Erin D. Foster, Julie A. McMurry , et al. · 2016

This FAIRsharing record describes: The Human Phenotype Ontology has been developed to provide a structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease. The goal is to provide reso…

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