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.
Edwards-Sethi syndrome
|
Orphanet_3085 |
|
GSD type 2, infantile onset
|
Orphanet_308552 |
|
Glycogenosis type 2, infantile onset
|
Orphanet_308552 |
|
GSD type II, infantile onset
|
Orphanet_308552 |
|
Glycogenosis type II, infantile onset
|
Orphanet_308552 |
|
Alpha-1,4-glucosidase acid deficiency, infantile onset
|
Orphanet_308552 |
|
Glycogen storage disease due to glycogen synthase deficiency
|
Orphanet_308520 |
|
Glycogen storage disease type 2, infantile onset
|
Orphanet_308552 |
|
Glycogen storage disease type II, infantile onset
|
Orphanet_308552 |
|
Pompe disease, infantile onset
|
Orphanet_308552 |
|
GSD due to acid maltase deficiency, infantile onset
|
Orphanet_308552 |
|
Glycogenosis due to acid maltase deficiency, infantile onset
|
Orphanet_308552 |
|
GSD due to glycogen synthase deficiency
|
Orphanet_308520 |
|
Glycogenosis due to glycogen synthase deficiency
|
Orphanet_308520 |
|