| 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.
|
Goldmann-Favre syndrome
|
Orphanet_53540 |
|
|
Episodic choreoathetosis/spasticity
|
Orphanet_53583 |
|
|
B3GALT6-related spEDS
|
Orphanet_536467 |
|
|
Beta3GalT6-deficient EDS
|
Orphanet_536467 |
|
|
Spondylodysplastic EDS
|
Orphanet_536471 |
|
|
Myopathic EDS
|
Orphanet_536516 |
|
|
AEBP1-related EDS
|
Orphanet_536532 |
|
|
EDS VI
|
Orphanet_536545 |
|
|
Kyphoscoliotic EDS
|
Orphanet_536545 |
|
|
Fellman disease
|
Orphanet_53693 |
|
|
GRACILE syndrome
|
Orphanet_53693 |
|
|
Vuopala disease
|
Orphanet_53696 |
|
|
Gnathodiaphyseal dysplasia
|
Orphanet_53697 |
|
|
Lyell syndrome
|
Orphanet_537 |
|
|
Bonnet-Dechaume-Blanc syndrome
|
Orphanet_53719 |
|
