| 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.
|
Hemoglobinopathy
|
Orphanet_68364 |
|
|
Leukodystrophy
|
Orphanet_68356 |
|
|
PSP syndrome
|
Orphanet_683 |
|
|
Rare genodermatosis
|
Orphanet_68346 |
|
|
Rare deafness
|
Orphanet_68361 |
|
|
Rare dystonia
|
Orphanet_68363 |
|
|
Lysosomal disease
|
Orphanet_68366 |
|
|
Peroxisomal disease
|
Orphanet_68373 |
|
|
Mitochondrial disease
|
Orphanet_68380 |
|
|
Neuromuscular disease
|
Orphanet_68381 |
|
|
Neurometabolic disease
|
Orphanet_68385 |
|
|
Multiple congenital anomalies/dysmorphic syndrome
|
Orphanet_68341 |
|
|
Rare maxillofacial anomaly
|
Orphanet_68329 |
|
|
Rare chromosomal anomaly
|
Orphanet_68335 |
|
|
Rare constitutional aplastic anemia
|
Orphanet_68383 |
|
