| Label | Id | |
|---|---|---|
| SPG50 | 13048 | |
| aHUS2 | 13040 | |
| aHUS3 | 13041 | |
| aHUS4 | 13042 | |
| presbycuses | D011304 | |
| GSD 13 | 13046 | |
| enolase-Beta deficiency | 13046 | |
| GSD 11 | 13047 | |
| GSD XI | 13047 | |
| CDG Io | 13049 | |
| DPM3-CDG (CDG-Io) | 13049 | |
| GSD type 11 | 13047 | |
| glycogenosis type 11 | 13047 | |
| glycogenosis type 13 | 13046 | |
| spastic paraplegia 50, autosomal recessive | 13048 |