| 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.
|
Mesomelic dwarfism, Reinhardt-Pfeiffer type
|
Orphanet_2634 |
|
|
Protein S acquired deficiency
|
Orphanet_26349 |
|
|
Nevus fuscocaeruleus acromiodeltoideus
|
Orphanet_263432 |
|
|
Chondrodysplasia with congenital joint dislocations, CHST3 type
|
Orphanet_263463 |
|
|
Acquired prothrombin deficiency
|
Orphanet_26348 |
|
|
Congenital hyperinsulinism due to HNF4A deficiency
|
Orphanet_263455 |
|
|
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
|
Orphanet_263455 |
|
|
Hyperinsulinemic hypoglycemia due to INSR deficiency
|
Orphanet_263458 |
|
|
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
|
Orphanet_263458 |
|
|
Reinhardt-Pfeiffer mesomelic dysplasia
|
Orphanet_2634 |
|
|
CHST3-related skeletal dysplasia
|
Orphanet_263463 |
|
|
Carbohydrate deficient glycoprotein syndrome type IIi
|
Orphanet_263487 |
|
|
Carbohydrate deficient glycoprotein syndrome type Io
|
Orphanet_263494 |
|
|
Fuchs heterochromic iridocyclitis
|
Orphanet_263479 |
|
|
Congenital smooth muscle hamartoma
|
Orphanet_263435 |
|
