Integration of Disease Entries Across OMIM, Orphanet, and a Proprietary Knowledge Base

Letter to the Editor: FHIR RDF - Why the world needs structured electronic health records

“…As biomedical knowledge resources include background knowledge for clinical research and practice, they can be easily mirrored and then reused to drive evidence-based clinical decisions for patient management, including disease diagnosis and prognosis, risk factor identification, medical prescription, and drug interaction identification (Callahan, Tripodi, Pielke-Lombardo, & Hunter, 2020). External identifiers of diseases, symptoms, and drugs in open knowledge graphs like Wikidata can be very useful to identify resources related to the condition of the patients: just like relevant publications can be found in bibliographic databases like PubMed (Turki, et al, 2022b), records about other concepts resources like datasets, software, cell lines, biomarkers or ontologies can be located in biomedical databases like Orphanet (Ito, et al, 2015) and online encyclopedias like Wikipedia (Turki, et al, 2022a). This will permit easier access to medical information by health practitioners and facilitate medical education for patients, medical students and the general public.…”