| 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.
|
Dup(17)(p11.2p12)
|
Orphanet_477817 |
|
|
Trisomy 17p11.2-p12
|
Orphanet_477817 |
|
|
Trisomy 17p11.2p12
|
Orphanet_477817 |
|
|
Yuan-Harel-Lupski syndrome
|
Orphanet_477817 |
|
|
PMP22-RAI1 contiguous gene duplication syndrome
|
Orphanet_477817 |
|
|
17p11.2p12 microduplication syndrome
|
Orphanet_477817 |
|
