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.
HCL-C
|
Orphanet_58017 |
|
ITPN
|
Orphanet_580572 |
|
MPS2
|
Orphanet_580 |
|
MPSII
|
Orphanet_580 |
|
Osteoblastoma
|
Orphanet_58040 |
|
Hunter syndrome
|
Orphanet_580 |
|
Leukemic reticuloendotheliosis
|
Orphanet_58017 |
|
Mucopolysaccharidosis type 2
|
Orphanet_580 |
|
Mucopolysaccharidosis type II
|
Orphanet_580 |
|
Lethal brain and heart developmental defects
|
Orphanet_580933 |
|
Classic hairy cell leukemia
|
Orphanet_58017 |
|
Punctate inner choroidopathy
|
Orphanet_580951 |
|
Iduronate 2-sulfatase deficiency
|
Orphanet_580 |
|
QRICH1-related intellectual disability-chondrodysplasia syndrome
|
Orphanet_580940 |
|
Intraductal tubulopapillary neoplasm of pancreas
|
Orphanet_580572 |
|