Table 3 Characteristics of the human-computer test set

	Rare diseases^a
Number of cases	75
Number of departments	5
Number of diseases	16
Age, years: median (average)	29 (31.6)
Female (%)	36 (48%)
Department: pediatrics
Number of diseases	3
Number of cases	15
Age, years: median (average)	7.42 (7.40)
Number of physicians	10
Department: neurology
Number of diseases	3
Number of cases	15
Age, years: median (average)	51 (49.1)
Number of physicians	10
Department: renal
Number of diseases	3
Number of cases	15
Age, years: median (average)	24 (24.4)
Number of physicians	10
Department: cardiology
Number of diseases	4
Number of cases	15
Age, years: median (average)	40 (39.1)
Number of physicians	10
Department: hematology
Number of diseases	3
Number of cases	15
Age, years: median (average)	46 (38)
Number of physicians	10
Physicians
Total Number of physicians	50
Experience, years: median (average)	11 (12.9)
Number of diagnoses per case: median (average)	3 (2.67)

^aThe 16 rare diseases were: Prader-Willi syndrome (PWS), Hepatolenticular degeneration (HD), McCune-Albright syndrome (MAS), Multiple system atrophy (MSA), Amyotrophic lateral sclerosis (ALS), Generalized myasthenia gravis (GMG), Alport syndrome (AS), Fabry disease (FD), Gitelman syndrome (GS), Marfan syndrome (MFS), Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), Brugada syndrome (BS), Restrictive cardiomyopathy (RCM), POEMS syndrome (POS), Paroxysmal nocturnal hemoglobinuria (PNH), and Niemann-Pick disease (NPD). More details of rare diseases are provided in Supplementary Table 4.

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