| 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.
|
Xq22.3 microdeletion syndrome
|
Orphanet_1018 |
|
|
Periodic fever syndrome
|
Orphanet_101995 |
|
|
X-linked Alport syndrome-diffuse leiomyomatosis
|
Orphanet_1018 |
|
|
Porphyria cutanea tarda
|
Orphanet_101330 |
|
|
Anomaly of the mitral subvalvular apparatus
|
Orphanet_101932 |
|
|
Immunodeficiency due to a complement cascade protein anomaly
|
Orphanet_101992 |
|
|
Situs inversus totalis
|
Orphanet_101063 |
|
|
Rare biliary tract disease
|
Orphanet_101941 |
|
|
Rare eye tumor
|
Orphanet_101950 |
|
|
PPK-CA, Stevanovic type
|
Orphanet_1010 |
|
|
APV/ADA, Fallot type
|
Orphanet_101206 |
|
|
PVA/ADA, Fallot type
|
Orphanet_101206 |
|
|
Hyper-IgM syndrome type 1
|
Orphanet_101088 |
|
|
Charcot-Marie-Tooth disease type 1A
|
Orphanet_101081 |
|
|
Charcot-Marie-Tooth disease type 1B
|
Orphanet_101082 |
|
