| 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.
|
BBGD
|
Orphanet_65284 |
|
|
BTBGD
|
Orphanet_65284 |
|
|
Del(3)(q29)
|
Orphanet_65286 |
|
|
LQT8
|
Orphanet_65283 |
|
|
MEITL
|
Orphanet_652658 |
|
|
MEN1
|
Orphanet_652 |
|
|
PFITS
|
Orphanet_652522 |
|
|
SVCA
|
Orphanet_652668 |
|
|
iSGS
|
Orphanet_652681 |
|
|
nTFHL-F
|
Orphanet_652650 |
|
|
Wermer syndrome
|
Orphanet_652 |
|
|
Carvajal syndrome
|
Orphanet_65282 |
|
|
Timothy syndrome
|
Orphanet_65283 |
|
|
Lhermitte-Duclos disease
|
Orphanet_65285 |
|
|
3qter deletion
|
Orphanet_65286 |
|
