| Label | Id | |
|---|---|---|
| mental retardation, x-linked, snyder-robinson type | C536678 | |
| generalized epilepsy with febrile seizures plus, 7 | C567827 | |
| obsolete disease with punctate palmoplantar keratoderma as a major feature | 17678.0 | |
| genetic hyperferritinemia without iron overload | 16788.0 | |
| cone dystrophy with night blindness and supernormal rod responses, KCNV2-Related | C563678 |