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 disease | Orpha number | Prevalence | Number of studies |
|---|---|---|---|
Amyotrophic lateral sclerosis | 803 | 1–9 / 100,000 | 16 (7.6%) |
Systemic lupus erythematosus | 536 | 1–5 / 10,000 | 14 (6.6%) |
Moderate and severe traumatic brain injury | 90056 | 1–5 / 10,000 | 12 (5.7%) |
Cystic fibrosis | 586 | 1–9 / 100,000 | 10 (4.7%) |
More than one rare disease investigated | – | – | 10 (4.7%) |
Huntington disease | 399 | 1–9 / 100,000 | 9 (4.3%) |
Down syndrome | 870 | 1–5 / 10,000 | 7 (3.3%) |
Preeclampsia | 275555 | 1–5 / 10,000 | 7 (3.3%) |
Acquired aneurysmal subarachnoid hemorrhage | 90065 | 1–5 / 10,000 | 6 (2.8%) |
Systemic sclerosis | 90291 | 1–5 / 10,000 | 6 (2.8%) |
Fragile X syndrome | 908 | 1–5 / 10,000 | 5 (2.4%) |
Retinopathy of prematurity | 90050 | 1–5 / 10,000 | 5 (2.4%) |