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Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.

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Title: Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.
Authors: Hentrich CM; Institute for Medical Informatics and Biometry, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany. clemens_maximilian.hentrich@tu-dresden.de., Vasseur J; Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany., Reinecke I; Data Integration Centre, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany., Weidner J; Institute for Medical Informatics and Biometry, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany., Göbel J; Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany., Storf H; Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany., Grüters-Kieslich A; Institute for Experimental Paediatric Endocrinology, Charité - University Medicine Berlin, Berlin, Germany.; Eva Luise und Horst Köhler Stiftung für Menschen mit Seltenen Erkrankungen, Bonn, Germany., Krause F; Eva Luise und Horst Köhler Stiftung für Menschen mit Seltenen Erkrankungen, Bonn, Germany., Hartung M; Business Division Strategic Science Management, Berlin Institute of Health (BIH) at Charité - University Medicine Berlin, Berlin, Germany., Sedlmayr M; Institute for Medical Informatics and Biometry, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany., Zoch M; Institute for Medical Informatics and Biometry, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany.
Source: Scientific data [Sci Data] 2026 Sep 30; Vol. 13 (1). Date of Electronic Publication: 2026 Sep 30.
Publication Type: Journal Article; Dataset
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Hentrich+CM%22">Hentrich CM</searchLink>; Institute for Medical Informatics and Biometry, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany. clemens_maximilian.hentrich@tu-dresden.de.<br /><searchLink fieldCode="AU" term="%22Vasseur+J%22">Vasseur J</searchLink>; Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Reinecke+I%22">Reinecke I</searchLink>; Data Integration Centre, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Weidner+J%22">Weidner J</searchLink>; Institute for Medical Informatics and Biometry, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Göbel+J%22">Göbel J</searchLink>; Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Storf+H%22">Storf H</searchLink>; Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Grüters-Kieslich+A%22">Grüters-Kieslich A</searchLink>; Institute for Experimental Paediatric Endocrinology, Charité - University Medicine Berlin, Berlin, Germany.; Eva Luise und Horst Köhler Stiftung für Menschen mit Seltenen Erkrankungen, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Krause+F%22">Krause F</searchLink>; Eva Luise und Horst Köhler Stiftung für Menschen mit Seltenen Erkrankungen, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Hartung+M%22">Hartung M</searchLink>; Business Division Strategic Science Management, Berlin Institute of Health (BIH) at Charité - University Medicine Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Sedlmayr+M%22">Sedlmayr M</searchLink>; Institute for Medical Informatics and Biometry, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Zoch+M%22">Zoch M</searchLink>; Institute for Medical Informatics and Biometry, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101640192%22">Scientific data</searchLink> [Sci Data] 2026 Sep 30; Vol. 13 (1). <i>Date of Electronic Publication: </i>2026 Sep 30.
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