| 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(2)(p15p16.1)
|
Orphanet_261349 |
|
|
Del(20)(q13.33)
|
Orphanet_261311 |
|
|
Del(21)(q22.11q22.12)
|
Orphanet_261323 |
|
|
Dup(20p)
|
Orphanet_261318 |
|
|
Salcedo syndrome
|
Orphanet_2613 |
|
|
Paternal del(20)(q13.2q13.3)
|
Orphanet_261304 |
|
|
Monosomy 20q13.33
|
Orphanet_261311 |
|
|
Trisomy 20p
|
Orphanet_261318 |
|
|
Monosomy 21q22.11q22.12
|
Orphanet_261323 |
|
|
Distal del(22)(q11.2)
|
Orphanet_261330 |
|
|
Distal dup(22)(q11.2)
|
Orphanet_261337 |
|
|
Duplication 1q
|
Orphanet_261344 |
|
|
Trisomy 1q
|
Orphanet_261344 |
|
|
Monosomy 2p15p16.1
|
Orphanet_261349 |
|
|
Duplication of 20p
|
Orphanet_261318 |
|
