| 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.
|
Beta-thalassemia with other manifestations
|
Orphanet_231386 |
|
|
Rhabdoid tumor predisposition syndrome
|
Orphanet_231108 |
|
|
Familial lentigines profusa
|
Orphanet_231040 |
|
|
HPS with pulmonary fibrosis
|
Orphanet_231500 |
|
|
HPS without pulmonary fibrosis
|
Orphanet_231512 |
|
|
Familial cerebral saccular aneurysm
|
Orphanet_231160 |
|
|
Familial intracranial saccular aneurysm
|
Orphanet_231160 |
|
|
Acute pure sensory GBS
|
Orphanet_231450 |
|
|
Acute pure sensory Guillain-Barré syndrome
|
Orphanet_231450 |
|
|
Acute pure sensory neuropathy
|
Orphanet_231450 |
|
|
Autosomal recessive spondylocostal dysostosis
|
Orphanet_2311 |
|
|
Rare non surgically correctable form of primary aldosteronism
|
Orphanet_231641 |
|
|
Hemoglobin C-beta-thalassemia syndrome
|
Orphanet_231242 |
|
|
Hemoglobin E-beta-thalassemia syndrome
|
Orphanet_231249 |
|
|
Beta-thalassemia-X-linked thrombocytopenia syndrome
|
Orphanet_231393 |
|
