| 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.
|
3q29 microdeletion syndrome
|
Orphanet_65286 |
|
|
CHD4-related neurodevelopmental syndrome
|
Orphanet_653712 |
|
|
Digenic Alport syndrome
|
Orphanet_653722 |
|
|
Jansen-de Vries syndrome
|
Orphanet_653767 |
|
|
Snijders Blok-Fisher syndrome
|
Orphanet_656135 |
|
|
1p36.33 duplication syndrome
|
Orphanet_656279 |
|
|
Arthrogryposis-severe scoliosis syndrome
|
Orphanet_65720 |
|
|
16q22 deletion syndrome
|
Orphanet_658540 |
|
|
Bronchiolitis obliterans syndrome
|
Orphanet_658602 |
|
|
EED-related overgrowth syndrome
|
Orphanet_659396 |
|
|
SUZ12-related overgrowth syndrome
|
Orphanet_659463 |
|
|
Marbach-Rustad progeroid syndrome
|
Orphanet_659873 |
|
|
PRR12-related neuroocular syndrome
|
Orphanet_659904 |
|
|
Long QT syndrome type 8
|
Orphanet_65283 |
|
|
Isolated single optic neuritis
|
Orphanet_659626 |
|
