| 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.
|
LGMD1A
|
Orphanet_266 |
|
|
Keipert syndrome
|
Orphanet_2662 |
|
|
Nasodigitoacoustic syndrome
|
Orphanet_2662 |
|
|
Nathalie syndrome
|
Orphanet_2663 |
|
|
Edwards-Patton-Dilly syndrome
|
Orphanet_2668 |
|
|
Nephropathy-deafness-hyperparathyroidism syndrome
|
Orphanet_2668 |
|
|
Braun-Bayer syndrome
|
Orphanet_2669 |
|
|
Limb-girdle muscular dystrophy due to myotilin deficiency
|
Orphanet_266 |
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1A
|
Orphanet_266 |
|
|
Nephrosis-deafness-urinary tract-digital malformations syndrome
|
Orphanet_2669 |
|
|
Congenital mesoblastic nephroma
|
Orphanet_2665 |
|
|
Adult familial nephronophthisis-spastic quadriparesia syndrome
|
Orphanet_2666 |
|
|
Deafness-cataract-skeletal anomalies syndrome
|
Orphanet_2663 |
|
|
Nephropathy-hearing loss-hyperparathyroidism syndrome
|
Orphanet_2668 |
|
