| 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.
|
ENDOVES
|
Orphanet_611223 |
|
|
PCH11
|
Orphanet_611247 |
|
|
PCH12
|
Orphanet_611256 |
|
|
sIBM
|
Orphanet_611 |
|
|
OGIN Syndrome
|
Orphanet_611201 |
|
|
Oculogastrointestinal-neurodevelopmental syndrome
|
Orphanet_611201 |
|
|
SHILCA syndrome
|
Orphanet_611207 |
|
|
AMeD syndrome
|
Orphanet_611216 |
|
|
ENDOVE syndrome
|
Orphanet_611223 |
|
|
Sporadic inclusion body myositis
|
Orphanet_611 |
|
|
Aplastic anemia-intellectual disability-dwarfism syndrome
|
Orphanet_611216 |
|
|
Pontocerebellar hypoplasia due to TBC1D23
|
Orphanet_611247 |
|
|
COASY-related pontocerebellar hypoplasia
|
Orphanet_611256 |
|
|
Inclusion body myositis
|
Orphanet_611 |
|
|
Parkinsonism with polyneuropathy
|
Orphanet_611237 |
|