| manager |
|
| language |
- |
| license |
- |
| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
|
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
|
20,514 entries
|
There is 0 pattern entry.
|
DYT9
|
Orphanet_53583 |
|
|
Goldmann-Favre syndrome
|
Orphanet_53540 |
|
|
Episodic choreoathetosis/spasticity
|
Orphanet_53583 |
|
|
Familial LMF1 deficiency
|
Orphanet_535453 |
|
|
Familial GPIHBP1 deficiency
|
Orphanet_535458 |
|
|
Retinoschisis with early nyctalopia
|
Orphanet_53540 |
|
|
Rare cutaneous lupus erythematosus
|
Orphanet_535 |
|
|
Familial lipase maturation factor 1 deficiency
|
Orphanet_535453 |
|
|
Enhanced S-cone syndrome
|
Orphanet_53540 |
|
