Table 3. Comparison of predictions between DDX generators.

Here we compare the most likely diagnosis of four well-known and freely available (at least for testing purposes) DDX generators with that provided by Rare Disease Discovery. 10 patients with different symptoms and/or diseases were randomly selected from the RAMEDIS dataset. All symptoms were used.

Disease (Patient ID)	Diagnosis pro	ISABEL	Phenomizer	FindZebra	Rare disease discovery
Classical homocystinuria (5)	+	+ +	+ +	+ +	+ +
Propionic acidemia (821)	+	+	+	∗	+ +
Glycogen storage disease (1086)	+	+ +	+	+ +	+ +
Isovaleric acidemia (1050)	+	∗	+	+ +	+ +
Galactosemia (970)	+	+	+ +	+ +	+ +
Carnitine palmitoyl transferase II deficiency (1024)	∗	+ +	+ +	+	+ +
Canavan disease (492)	∗	∗	∗	+ +	+ +
Porphyria (866)	+	∗	+ +	+ +	+ +
Mitochondrial DNA depletion syndrome (940)	∗	+	+	+ +	+ +
Congenital neuronal ceroid lipofuscinosis (830)	+	+	+ +	+ +	+ +

Notes.

+ Suggests the appropriate disease in the top 100 list of possible diseases.

+ + Suggests the appropriate disease in the top 10 list of predictions.

∗ Does not suggest the appropriate disease in any position of the top 100 list of predictions.