| 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.
|
Silent sinus syndrome
|
Orphanet_71276 |
|
|
Inherited glutamine synthetase deficiency
|
Orphanet_71278 |
|
|
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
|
Orphanet_71289 |
|
|
Rare soft tissue tumor
|
Orphanet_71209 |
|
|
Encephalopathy due to GLUT1 deficiency
|
Orphanet_71277 |
|
|
Hyperinsulinism due to SCHAD deficiency
|
Orphanet_71212 |
|
|
Hyperinsulinism due to glutamodehydrogenase deficiency
|
Orphanet_71212 |
|
|
Obesity due to melanocortin 4 receptor deficiency
|
Orphanet_71529 |
|
|
GSD due to muscle phosphorylase kinase deficiency
|
Orphanet_715 |
|
|
Glycogenosis due to muscle phosphorylase kinase deficiency
|
Orphanet_715 |
|
|
GSD due to phosphoglycerate kinase 1 deficiency
|
Orphanet_713 |
|
|
Glycogenosis due to phosphoglycerate kinase 1 deficiency
|
Orphanet_713 |
|
|
Obesity due to pro-opiomelanocortin deficiency
|
Orphanet_71526 |
|
|
Obesity due to prohormone convertase I deficiency
|
Orphanet_71528 |
|
|
Benign paroxysmal torticollis of infancy
|
Orphanet_71518 |
|
