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.
MSUD
|
Orphanet_511 |
|
BCKD deficiency
|
Orphanet_511 |
|
BCKDH deficiency
|
Orphanet_511 |
|
Branched-chain ketoaciduria
|
Orphanet_511 |
|
Ethylmalonic encephalopathy
|
Orphanet_51188 |
|
Branched-chain 2-ketoacid dehydrogenase deficiency
|
Orphanet_511 |
|
Maple syrup urine disease
|
Orphanet_511 |
|