| 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.
|
AVED
|
Orphanet_96 |
|
|
9qSTDS
|
Orphanet_96147 |
|
|
Acromegaly
|
Orphanet_963 |
|
|
Del(13)(q34)
|
Orphanet_96168 |
|
|
Del(22)
|
Orphanet_96123 |
|
|
Dup(16)(p13.3)
|
Orphanet_96078 |
|
|
Dup(3)(q26)
|
Orphanet_96095 |
|
|
Dup(7)(q11.23)
|
Orphanet_96121 |
|
|
Invdupdel(8p)
|
Orphanet_96092 |
|
|
KdVS
|
Orphanet_96169 |
|
|
Polyploidy
|
Orphanet_96321 |
|
|
RC11
|
Orphanet_96175 |
|
|
Somatotropinoma
|
Orphanet_96256 |
|
|
UPD(14)pat
|
Orphanet_96334 |
|
|
UPD(11)pat
|
Orphanet_96193 |
|
