Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems ...
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... diseases. This series includes a list of rare diseases, reports on epidemiological data, list of orphan drugs, rare disease registries in Europe, list of ...
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28.12.2020 · The study was conducted as an anonymous cross-sectional study among dentists, specialist dentists, and oral- and craniomaxillofacial surgeons in ...
03.10.2007 · The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory ...
The first half of this review describes how NGS has changed diagnostic workflows and provided an unprecedent-ed, simple way of discovering novel disease- ...
22.12.2022 · In the rare disease community, the increased use of extensive databases such as Orphanet, serves as a model for international data collection.
05.09.2022 · The rare disease field is host to a growing number of initiatives that engage in pharmaceutical innovation in various and distinct ways. The ...
24.11.2023 · KGs that underlie web apps for aggregating and analyzing information, such as the Monarch App, must ensure each concept (e.g. gene, disease, etc ...
Norrie disease is a rare genetic disorder that primarily affects the retina, usually leading to blindness. In addition to the congenital ocular symptoms, ...
With more than 1,200 rare disorders, you can explore rare disease reports that include information on symptoms, causes, treatments, clinical trials, and sources ...
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