| 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.
|
Genetic lethal multiple congenital anomalies/dysmorphic syndrome
|
Orphanet_471383 |
|
|
BVES-related limb-girdle muscular dystrophy
|
Orphanet_476084 |
|
|
PMP2-related Charcot-Marie-Tooth neuropathy type 1
|
Orphanet_476394 |
|
|
Congenital anomaly of interventricular communication
|
Orphanet_474347 |
|
|
Combined oxidative phosphorylation defect type 26
|
Orphanet_477684 |
|
|
Combined oxidative phosphorylation defect type 27
|
Orphanet_477774 |
|
|
Combined oxidative phosphorylation defect type 29
|
Orphanet_478029 |
|
|
Combined oxidative phosphorylation defect type 30
|
Orphanet_478042 |
|
|
Hereditary papillary renal cell carcinoma
|
Orphanet_47044 |
|
|
Pediatric multiple sclerosis
|
Orphanet_477738 |
|
|
Congenital ventricular septal anomaly
|
Orphanet_474347 |
|
|
Olfacto-genital pathological sequence
|
Orphanet_478 |
|
|
Genetic cerebral small vessel disease
|
Orphanet_477754 |
|
|
Hypercontractile muscle stiffness syndrome
|
Orphanet_476403 |
|
|
Classic Joubert syndrome
|
Orphanet_475 |
|
