| 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.
|
MCST
|
Orphanet_569248 |
|
|
MMDS5
|
Orphanet_569274 |
|
|
ISCA1 deficiency
|
Orphanet_569274 |
|
|
PMPCB deficiency
|
Orphanet_569290 |
|
|
Human prion disease
|
Orphanet_56970 |
|
|
Multiple mitochondrial dysfunctions syndrome type 5
|
Orphanet_569274 |
|
|
Multiple mitochondrial dysfunctions syndrome type 6
|
Orphanet_569290 |
|
|
Transmissible spongiform encephalopathy
|
Orphanet_56970 |
|
|
Angiomatoid fibrous histiocytoma
|
Orphanet_569164 |
|
|
Congenital primary lymphedema of Gordon
|
Orphanet_569821 |
|
|
CELSR1-related late-onset primary lymphedema
|
Orphanet_569816 |
|
|
VEGFC-related congenital primary lymphedema
|
Orphanet_569821 |
|
|
Familial or sporadic hemiplegic migraine
|
Orphanet_569 |
|
|
Microcystic stromal tumor
|
Orphanet_569248 |
|
