Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study

Anne Pankow   ^{1, 2 *} , PhD ;   Nico Meißner-Bendzko   ^{3 *} , MD ;   Jessica Kaufeld   ⁴ , MD ;   Laura Fouquette   ³ , MPD ;   Fabienne Cotte   ³ , MD ;   Stephen Gilbert   ⁵ , PhD ;   Ewelina Türk   ³ , MD ;   Anibh Das   ⁶ , MD ;   Christoph Terkamp   ² , MD ;   Gerhard-Rüdiger Burmester   ¹ , MD ;   Annette Doris Wagner   ⁴ , MD

¹ Department of Rheumatology and Clinical Immunology, Charité-Universitätsmedizin Berlin, Berlin, Germany

² Department of Gastroneterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany

³ Ada Health GmbH, Berlin, Germany

⁴ Department of Nephrology and Hypertension, Hannover Medical School, Hannover, Germany

⁵ Else Kröner Fresenius Center for Digital Health, TU Dresden University of Technology, Dresden, Germany

⁶ Department of Paediatrics, Hannover Medical School, Hannover, Germany

*these authors contributed equally