| 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.
|
SMAX2
|
Orphanet_1145 |
|
|
X-linked distal arthrogryposis multiplex congenita
|
Orphanet_1145 |
|
|
Spinal muscular atrophy with arthrogryposis
|
Orphanet_1145 |
|
|
X-linked spinal muscular atrophy type 2
|
Orphanet_1145 |
|
|
Infantile-onset X-linked spinal muscular atrophy
|
Orphanet_1145 |
|
