| 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.
|
21q- syndrome
|
Orphanet_574 |
|
|
Autosomal recessive MSMD due to partial JAK1 deficiency
|
Orphanet_574957 |
|
|
Partial 21q monosomy
|
Orphanet_574 |
|
|
Predisposition to severe viral infection due to IRF7 deficiency
|
Orphanet_574918 |
|
|
21q deletion syndrome
|
Orphanet_574 |
|
