Table 3 Number of patients in CEMARA for 4 diseases taken as examples (Microdeletion 22q11.2, Williams Syndrome, Cornelia de Lange Syndrome, Rubinstein-Taybi Syndrome), and comparison with the largest cohorts published to date
CEMARA | Largest cohorts in the literature | ||||||
|---|---|---|---|---|---|---|---|
Orpha_id | Disease | Number of patients in AnDDI-Rares | Number of patients in CEMARA | % of confirmed diagnosis in AnDDI-Rares | % of confirmed diagnosis in CEMARA | Numbers | References |
567 | Microdeletion 22q11.2 | 1911 | 2592 | 87 | 88 | 1393 | Homans et al. [20] |
904 | Williams Syndrome | 648 | 907 | 85 | 86 | 106 | Lugo et al. [21] |
199 | Cornelia de Lange Syndrome | 232 | 360 | 50 | 52 | 486 | Mehta et al. [22] |
783 | Rubinstein-Taybi Syndrome | 261 | 373 | 73 | 73 | 93 | Schorry et al. [23] |