| 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.
|
BSCL
|
Orphanet_528 |
|
|
Berardinelli-Seip syndrome
|
Orphanet_528 |
|
|
Lipoatrophic diabetes
|
Orphanet_528 |
|
|
HELIX syndrome
|
Orphanet_528105 |
|
|
HAE with C1 inhibitor deficiency
|
Orphanet_528623 |
|
|
HAE with C1Inh deficiency
|
Orphanet_528623 |
|
|
Complex neurodevelopmental disorder
|
Orphanet_528084 |
|
|
Hereditary angioneurotic edema with C1 inhibitor deficiency
|
Orphanet_528623 |
|
|
Acquired angioneurotic edema with C1 inhibitor deficiency
|
Orphanet_528663 |
|
|
Hereditary angioneurotic edema with C1Inh deficiency
|
Orphanet_528623 |
|
|
Acquired angioneurotic edema with C1Inh deficiency
|
Orphanet_528663 |
|
|
Hereditary angioneurotic edema with normal C1 inhibitor
|
Orphanet_528647 |
|
|
Hereditary angioneurotic edema with normal C1Inh
|
Orphanet_528647 |
|
|
Non-specific syndromic intellectual disability
|
Orphanet_528084 |
|
|
Berardinelli-Seip congenital lipodystrophy
|
Orphanet_528 |
|
