| 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.
|
Spinocerebellar ataxia type 19/22
|
Orphanet_98772 |
|
|
Spinocerebellar ataxia type 2
|
Orphanet_98756 |
|
|
Optic atrophy type 2
|
Orphanet_98890 |
|
|
Spinocerebellar ataxia type 21
|
Orphanet_98773 |
|
|
Spinocerebellar ataxia type 27
|
Orphanet_98764 |
|
|
Charcot-Marie-Tooth disease type 2B1
|
Orphanet_98856 |
|
|
Spinocerebellar ataxia type 3
|
Orphanet_98757 |
|
|
Spinocerebellar ataxia type 4
|
Orphanet_98765 |
|
|
Spinocerebellar ataxia type 5
|
Orphanet_98766 |
|
|
Spinocerebellar ataxia type 6
|
Orphanet_98758 |
|
|
Spinocerebellar ataxia type 8
|
Orphanet_98760 |
|
|
Absent pulmonary valve syndrome
|
Orphanet_982 |
|
|
Congenital pulmonary veins anomaly
|
Orphanet_98729 |
|
|
Early-onset cataract with Y-shaped suture opacities
|
Orphanet_98985 |
|
|
Systemic mastocytosis with associated hematologic neoplasm
|
Orphanet_98849 |
|
