| 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.
|
Alagille syndrome due to del(20)(p12)
|
Orphanet_261600 |
|
|
Okihiro syndrome due to del(20)(q13)
|
Orphanet_261638 |
|
|
Alagille syndrome due to monosomy 20p12
|
Orphanet_261600 |
|
|
Alagille-Watson syndrome due to monosomy 20p12
|
Orphanet_261600 |
|
|
Arteriohepatic dysplasia due to monosomy 20p12
|
Orphanet_261600 |
|
|
Okihiro syndrome due to monosomy 20q13
|
Orphanet_261638 |
|
|
Yakut short stature syndrome
|
Orphanet_2616 |
|
|
Duane-radial ray syndrome due to a point mutation
|
Orphanet_261647 |
|
|
Duane-radial ray syndrome due to monosomy 20q13
|
Orphanet_261638 |
|