Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT

Orphanet Journal of Rare Diseases

Ana Luísa Carvalho¹  Jorge Saraiva²  José Henriques³  João Pedro Marques⁴  Rufino Silva⁴  Joaquim Neto Murta⁴ 

[1] Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal;Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal;University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal;Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal;Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal;University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal;Instituto de Oftalmologia Dr. Gama Pinto (IOGP), Lisbon, Portugal;Ophthalmology Unit, Centro de Responsabilidade Integrado em Oftalmologia (CRIO), Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal;University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal;Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal;

关键词: Inherited retinal dystrophies;    Registry;    Rare diseases;    Interoperability;    Software;    Data management;    Research;    Epidemiology;    Natural history;    Clinical genetics;   

DOI  :  10.1186/s13023-020-01591-6

来源: Springer

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