| 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.
|
EED-related overgrowth syndrome
|
Orphanet_659396 |
|
|
SUZ12-related overgrowth syndrome
|
Orphanet_659463 |
|
|
Marbach-Rustad progeroid syndrome
|
Orphanet_659873 |
|
|
PRR12-related neuroocular syndrome
|
Orphanet_659904 |
|
|
NR4A2-related neurodevelopmental syndrome
|
Orphanet_660012 |
|
|
Yellow nail syndrome
|
Orphanet_662 |
|
|
6q25.1 microdeletion syndrome
|
Orphanet_664404 |
|
|
Trigeminal trophic syndrome
|
Orphanet_664901 |
|
|
Apical ballooning syndrome
|
Orphanet_66529 |
|
|
Broken heart syndrome
|
Orphanet_66529 |
|
|
Goldberg-Shprintzen megacolon syndrome
|
Orphanet_66629 |
|
|
Hypothalamic hamartoblastoma syndrome
|
Orphanet_672 |
|
|
Craniosynostosis-facial dysmorphism-brachydactyly syndrome
|
Orphanet_672979 |
|
|
Unilateral wipe-out syndrome
|
Orphanet_674947 |
|
|
Keratosis palmoplantar-periodontopathy syndrome
|
Orphanet_678 |
|
