| 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.
|
Del(16)(p11.2p12.2)
|
Orphanet_261211 |
|
|
Del(16)(p13.11)
|
Orphanet_261236 |
|
|
Del(16)(q24.3)
|
Orphanet_261250 |
|
|
Del(17)(q12)
|
Orphanet_261265 |
|
|
Del(17)(q23.1q23.2)
|
Orphanet_261279 |
|
|
Del(20)(p12.3)
|
Orphanet_261295 |
|
|
Dup(14)(q11.2)
|
Orphanet_261229 |
|
|
Dup(16)(p11.2p12.2)
|
Orphanet_261204 |
|
|
Dup(16)(p13.11)
|
Orphanet_261243 |
|
|
Dup(17)(q12)
|
Orphanet_261272 |
|
|
Dup(17p)
|
Orphanet_261290 |
|
|
Schimmelpenning syndrome
|
Orphanet_2612 |
|
|
Solomon syndrome
|
Orphanet_2612 |
|
|
Trisomy 16p11.2p12.2
|
Orphanet_261204 |
|
|
Monosomy 16p11.2p12.2
|
Orphanet_261211 |
|
