| 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.
|
Dup(5)(q35)
|
Orphanet_228415 |
|
|
Dup(7)(p22.1)
|
Orphanet_314034 |
|
|
Dup(7)(q11.23)
|
Orphanet_96121 |
|
|
Dup(7)(q36.3)
|
Orphanet_459074 |
|
|
Dup(8)(p23.1p23.1)
|
Orphanet_251076 |
|
|
Dup(8)(q12)
|
Orphanet_228399 |
|
|
Dup(X)(p11.22p11.23)
|
Orphanet_217377 |
|
|
Dup(X)(p22)
|
Orphanet_284180 |
|
|
Dup(X)(p22.13p22.2)
|
Orphanet_284180 |
|
|
Dup(X)(q12-q13.3)
|
Orphanet_314389 |
|
|
Dup(X)(q25)
|
Orphanet_521258 |
|
|
Dup(X)(q27.3q28)
|
Orphanet_261483 |
|
|
Dup7q11.23D
|
Orphanet_261102 |
|
|
Dysbetalipoproteinemia
|
Orphanet_412 |
|
|
Dysferlinopathy
|
Orphanet_207073 |
|
