| 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.
|
ECHS1D
|
Orphanet_653880 |
|
|
JDVS
|
Orphanet_653767 |
|
|
LGMDR28
|
Orphanet_653725 |
|
|
MEN2
|
Orphanet_653 |
|
|
Lymphocytic mastitis
|
Orphanet_653698 |
|
|
Lymphocytic mastopathy
|
Orphanet_653698 |
|
|
Sifrim-Hitz-Weiss syndrome
|
Orphanet_653712 |
|
|
Marsili syndrome
|
Orphanet_653728 |
|
|
Crotonase deficiency
|
Orphanet_653880 |
|
|
LGMD, type 28
|
Orphanet_653725 |
|
|
Limb-girdle, type 28R
|
Orphanet_653725 |
|
|
CHD4-related neurodevelopmental disorder
|
Orphanet_653712 |
|
|
X-linked CID due to SASH3 deficiency
|
Orphanet_653751 |
|
|
Cone rod dystrophy-short stature syndrome
|
Orphanet_653709 |
|
|
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
|
Orphanet_653880 |
|
