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Table 2 Rare diseases most frequently investigated in the studies (all diseases appearing in five or more studies are listed)

From: The use of machine learning in rare diseases: a scoping review

Rare diseaseOrpha numberPrevalenceNumber of studies
Amyotrophic lateral sclerosis8031–9 / 100,00016 (7.6%)
Systemic lupus erythematosus5361–5 / 10,00014 (6.6%)
Moderate and severe traumatic brain injury900561–5 / 10,00012 (5.7%)
Cystic fibrosis5861–9 / 100,00010 (4.7%)
More than one rare disease investigated10 (4.7%)
Huntington disease3991–9 / 100,0009 (4.3%)
Down syndrome8701–5 / 10,0007 (3.3%)
Preeclampsia2755551–5 / 10,0007 (3.3%)
Acquired aneurysmal subarachnoid hemorrhage900651–5 / 10,0006 (2.8%)
Systemic sclerosis902911–5 / 10,0006 (2.8%)
Fragile X syndrome9081–5 / 10,0005 (2.4%)
Retinopathy of prematurity900501–5 / 10,0005 (2.4%)