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. 2020 Nov 19;3(2):e21694. doi: 10.2196/21694

Table 2.

Pediatric rare diseases on Orphanet and diseases with at least one group that follow the different inheritance modes (more than one may apply).

Typea Pediatric rare diseases on Orphanet that follow this inheritance mode, n (%) Pediatric rare diseases with ≤1 group that follow this inheritance mode, n (%)
Autosomal recessive 1765 (55.6) 314 (38.0)
Autosomal dominant 971 (30.6) 279 (33.8)
X-linked recessive 306 (9.6) 75 (9.1)
X-linked dominant 70 (2.2) 25 (3.0)
Multigenic or multifactorial 74 (2.3) 31 (3.8)
Mitochondrial 15 (0.5) 1 (0.1)
Y-linked 1 (<0.01) 0 (0.0)
Inheritance not applicable 513 (16.2) 197 (23.8)

aMore than one may apply.