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.
Infantile nephronophthisis
|
Orphanet_93591 |
|
Juvenile nephronophthisis
|
Orphanet_93592 |
|
Glycolic aciduria
|
Orphanet_93598 |
|
L-glyceric aciduria
|
Orphanet_93599 |
|
XDH deficiency
|
Orphanet_93601 |
|
XO deficiency
|
Orphanet_93601 |
|
XOR deficiency
|
Orphanet_93601 |
|
AR pRTA
|
Orphanet_93607 |
|
AD dRTA
|
Orphanet_93608 |
|
Alpha-thalassemia intermedia
|
Orphanet_93616 |
|
HbH disease
|
Orphanet_93616 |
|
Autoinflammatory syndrome
|
Orphanet_93665 |
|
Juvenile DM
|
Orphanet_93672 |
|
Juvenile dermatomyositis
|
Orphanet_93672 |
|
Malformation syndrome
|
Orphanet_93890 |
|