| 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.
|
MPAL
|
Orphanet_530995 |
|
|
PROS
|
Orphanet_530313 |
|
|
Lipoid proteinosis
|
Orphanet_530 |
|
|
Urbach-Wiethe disease
|
Orphanet_530 |
|
|
Caroli disease
|
Orphanet_53035 |
|
|
Lamb-Shaffer syndrome
|
Orphanet_530983 |
|
|
Familial apolipoprotein A-V deficiency
|
Orphanet_530849 |
|
|
Familial apolipoprotein A5 deficiency
|
Orphanet_530849 |
|
|
KRT1-related diffuse NEPPK
|
Orphanet_530838 |
|
|
Mixed phenotype acute leukemia
|
Orphanet_530995 |
|
|
Familial APOA5 deficiency
|
Orphanet_530849 |
|
|
RELA fusion-positive ependymoma
|
Orphanet_530792 |
|
|
Dermoid or epidermoid cyst of the CNS
|
Orphanet_530033 |
|
|
Dermoid or epidermoid cyst of the central nervous system
|
Orphanet_530033 |
|
|
Progressive myoclonic epilepsy with neuroserpin inclusion bodies
|
Orphanet_530298 |
|
