Table 1. ChatGPT-4o diagnosis of 121 diseases in the China’s first catalog of rare diseases.

	Diagnosis, n (%)		Total, n (%)	95% CI
	Accuracy	Misdiagnosis
Genetica,b,c	94 (89.5)	11 (10.5)	105 (86.8)	0.83‐1.10
Nongenetica,b,c	15 (93.8)	1 (6.3)	16 (13.2)
Total	109 (90.1)	12 (9.9)	121 (100)

^aχ2: 0.28.

^bP=.60.

^cRelative risk (RR)=0.96.