| 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.
|
DYT5a
|
Orphanet_98808 |
|
|
HPD with marked diurnal fluctuation
|
Orphanet_98808 |
|
|
Autosomal dominant Segawa syndrome
|
Orphanet_98808 |
|
|
GTPCH1-deficient DRD
|
Orphanet_98808 |
|
|
Autosomal dominant dopa-responsive dystonia
|
Orphanet_98808 |
|
|
GTPCH1-deficient dopa-responsive dystonia
|
Orphanet_98808 |
|
|
Hereditary progressive dystonia with marked diurnal fluctuation
|
Orphanet_98808 |
|
