Table 1. Examples of prediction results for a randomly chosen set of ten rare diseases.

Diseases are identified in column 1. Column 2 indicates the total number of symptoms associated to the disease in the ORPHANET dataset. Column 3 presents DS_i for the disease when one symptom is submitted to RDD, as well as the ranking of the disease in the list of predictions. Column 4 shows DS_i for the disease when five symptoms are simultaneously submitted to RDD, as well as the ranking of the disease in the list of predictions. Column 5 displays minimum DS_i at which the disease is ranked as the most likely prediction, as well as the number of symptoms needed for that value of DS_i to be obtained. Finally, column 6 indicates the number of symptoms that make DS_i ≥ 0.5 for the disease, which is the value above which DS_i is statistically significant. Details about the symptoms are given in Supporting Table 1 of Appendix S1.

Disease	Number of associated symptoms	Score at 1 symptom (rank)	Minimun score at rank 1 (number of symptoms)	Number of symptoms for statistically significant score (DSi > 0.5)
Beta-Thalassemia	23	0.043(67th)	0.13(3)	12
Canavan disease	19	0.053(23rd)	0.26(5)	10
Down syndrome	48	0.021(244th)	0.083(4)	24
Fabry disease	66	0.015(111th)	0.12(8)	33
Goldblatt syndrome	23	0.043(81st)	0.13(3)	12
Turner syndrome	26	0.038(21st)	0.077(2)	13
Uncombable hair syndrome	7	0.14(1st)	0.14(1)	4
Williams syndrome	180	0.006(121st)	0.028(5)	90
Yunis-Varon syndrome	66	0.015(7th)	0.14(9)	33
Zellweger-like syndrome without peroxisomal anomalies	25	0.042(31st)	0.12(3)	13