| 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.
|
FCD type II
|
Orphanet_268994 |
|
|
FCD type Ia
|
Orphanet_268973 |
|
|
FCD type Ib
|
Orphanet_268980 |
|
|
FCD type Ic
|
Orphanet_268987 |
|
|
Dysferlin-related LGMD R2
|
Orphanet_268 |
|
|
Cortical dysplasia, Taylor type
|
Orphanet_268994 |
|
|
Classic branched-chain alpha-ketoacid dehydrogenase deficiency
|
Orphanet_268145 |
|
|
Spina bifida aperta
|
Orphanet_268369 |
|
|
Open spina bifida
|
Orphanet_268369 |
|
|
Neural tube closure defect
|
Orphanet_268357 |
|
|
Primary tethered cord syndrome
|
Orphanet_268861 |
|
|
Isolated focal cortical dysplasia type 2
|
Orphanet_268994 |
|
|
Isolated focal cortical dysplasia type I
|
Orphanet_268961 |
|
|
Isolated focal cortical dysplasia type II
|
Orphanet_268994 |
|
|
Isolated focal cortical dysplasia type Ia
|
Orphanet_268973 |
|
