| Label | Id | |
|---|---|---|
| GSD type 11 | 13047 | |
| glycogenosis type 11 | 13047 | |
| VWD type 2 | 13304 | |
| VWD, type 2 | 13304 | |
| D-HUS with B factor anomaly | 13042 | |
| spastic paraplegia 61, autosomal recessive | 14304 | |
| spastic paraplegia 61, autosomal recessive; SPG61 | http://purl.obolibrary.org/obo/MONDO_0014304 | |
| aHUS with B factor anomaly | 13042 | |
| ectodermal dysplasia Bartalos type | 23040 | |
| Perrault syndrome 6; PRLTS6 | http://purl.obolibrary.org/obo/MONDO_0033047 | |
| Joubert syndrome 29 | 33044 | |
| ectodermal dysplasia Berlin type | 23041 | |
| cervical vertebral Bridge | 7304 | |
| obsolete type C thymoma | 3048.0 | |
| D-HUS with C3 anomaly | 13043 |