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Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study

Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study

Improved understanding and recognition of rare diseases are key for accurate and timely diagnosis, and this relies on broad dissemination of and access to knowledge about rare diseases [4].

Qian Zhu, Dac-Trung Nguyen, Gioconda Alyea, Karen Hanson, Eric Sid, Anne Pariser

JMIR Med Inform 2020;8(10):e18395


A European Network of Email and Telephone Help Lines Providing Information and Support on Rare Diseases: Results From a 1-Month Activity Survey

A European Network of Email and Telephone Help Lines Providing Information and Support on Rare Diseases: Results From a 1-Month Activity Survey

The European Commission adopted a Communication and the Council a Recommendation on rare diseases, setting out an overall community strategy to support Member States in diagnosing, treating, and caring for citizens with rare diseases [1,4].

Francois Houyez, Rosa Sanchez de Vega, Tuy Nga Brignol, Monica Mazzucato, Agata Polizzi

Interact J Med Res 2014;3(2):e9


Standardization of Questions in Rare Disease Registries: The PRISM Library Project

Standardization of Questions in Rare Disease Registries: The PRISM Library Project

This paper introduces the [Rare Disease] PRISM (Patient Registry Item Specifications and Metadata for Rare Disease) project, a library of standardized questions covering a broad spectrum of rare diseases that can be used to support the development of new registries

Rachel Lynn Richesson, Denise Shereff, James Everett Andrews

Interact J Med Res 2012;1(2):e10


Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis

Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis

Since rare diseases have per definition a very low prevalence (European definition of rare diseases: <1 per 2000) [2], affected individuals are often geographically dispersed.

Sarah Catrin Titgemeyer, Christian Patrick Schaaf

JMIR Pediatr Parent 2020;3(2):e21694