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Rare disorders are scarcely represented in international classifications and therefore invisible in information systems. One of the major needs in health information systems and for research is to share and/or to integrate data coming from heterogeneous sources with diverse reference terminologies. ORPHANET (www.orpha.net) is a multilingual information(More)
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the(More)
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is(More)
ORPHANET is the reference information portal on rare diseases and orphan drugs for healthcare professionals and for general audience. After ten years of evolution, current ORPHANET tools cannot support efficiently the edition, update and data sharing processes demanded by a constantly growing rare diseases knowledge. In order to improve the editing(More)
There is currently very little information available about the disabilities encountered by rare disease (RD) patients. Orphanet [http://www.orpha.net], the international database and portal on RDs and orphan drugs, has developed various projects to improve the knowledge and visibility of disabilities associated with RDs, and to provide tools to help the(More)
Having codes for each and every rare disease (RD) would help European and national health authorities obtain a better knowledge of healthcare pathways and of their impact on specialised health care services (centres of expertise for instance) and on budget. It would also allow having sound data on the epidemiology and natural history of RD, and provide data(More)
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