| 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.
|
Rare non-syndromic intellectual disability
|
Orphanet_101685 |
|
|
Complete situs inversus
|
Orphanet_101063 |
|
|
Complete situs inversus viscerum
|
Orphanet_101063 |
|
|
Autosomal dominant lateral temporal lobe epilepsy
|
Orphanet_101046 |
|
|
Rare vascular liver disease
|
Orphanet_101938 |
|
|
Rare parenchymal liver disease
|
Orphanet_101939 |
|
|
Rare metabolic liver disease
|
Orphanet_101940 |
|
|
Rare diabetes mellitus
|
Orphanet_101952 |
|
|
Rare genetic ophthalmologic disease
|
Orphanet_101435 |
|
|
Cleft hard palate
|
Orphanet_101023 |
|
|
Autosomal spastic paraplegia type 30
|
Orphanet_101010 |
|
|
Bilateral frontoparietal polymicrogyria
|
Orphanet_101070 |
|
|
Unilateral hemispheric polymicrogyria
|
Orphanet_101071 |
|
|
Genetic chronic primary adrenal insufficiency
|
Orphanet_101960 |
|
|
Acquired chronic primary adrenal insufficiency
|
Orphanet_101963 |
|
