| 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.
|
Distal monosomy 7q36
|
Orphanet_1636 |
|
|
Telomeric deletion 7q36
|
Orphanet_1636 |
|
|
Spondyloepiphyseal dysplasia, Cantu type
|
Orphanet_163654 |
|
|
Spondyloepiphyseal dysplasia, MacDermot type
|
Orphanet_163668 |
|
|
Multiple Enchondromatosis, Maffucci Type
|
Orphanet_163634 |
|
|
Spondyloepiphyseal dysplasia, Nishimura type
|
Orphanet_163649 |
|
|
Spondyloepiphyseal dysplasia, Reardon type
|
Orphanet_163662 |
|
|
CNTNAP2-related developmental and epileptic encephalopathy
|
Orphanet_163681 |
|
|
Cortical dysplasia-focal epilepsy syndrome
|
Orphanet_163681 |
|
|
Progressive myoclonic epilepsy type 4
|
Orphanet_163696 |
|
|
Progressive myoclonus epilepsy type 4
|
Orphanet_163696 |
|
|
Action myoclonus-renal failure syndrome
|
Orphanet_163696 |
|
|
Alveolar soft part sarcoma
|
Orphanet_163699 |
|
|
Rare disorder related with pregnancy, childbirth and puerperium
|
Orphanet_163637 |
|
|
Leukoencephalopathy-dystonia-motor neuropathy syndrome
|
Orphanet_163684 |
|
