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(16)(p13.11)
|
Orphanet_261243 |
|
Dup(16)(p13.3)
|
Orphanet_96078 |
|
Dup(17)(p11.2p12)
|
Orphanet_477817 |
|
Dup(17)(p13.3)
|
Orphanet_217385 |
|
Dup(17)(q11.2)
|
Orphanet_139474 |
|
Dup(17)(q12)
|
Orphanet_261272 |
|
Dup(17)(q21.31)
|
Orphanet_217340 |
|
Dup(17p)
|
Orphanet_261290 |
|
Dup(19)(p13.3)
|
Orphanet_447980 |
|
Dup(2)(q23.1)
|
Orphanet_313947 |
|
Dup(20)(q11.2)
|
Orphanet_363659 |
|
Dup(20p)
|
Orphanet_261318 |
|
Dup(22)(q11)
|
Orphanet_1727 |
|
Dup(3)(q26)
|
Orphanet_96095 |
|
Dup(5)(p13)
|
Orphanet_329802 |
|