| 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.
|
Moniliform hair syndrome
|
Orphanet_573 |
|
|
21q deletion syndrome
|
Orphanet_574 |
|
|
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
|
Orphanet_572333 |
|
|
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
|
Orphanet_572354 |
|
|
Bare lymphocyte syndrome type 2
|
Orphanet_572 |
|
|
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
|
Orphanet_572361 |
|
|
Mitochondrial tryptophanyl-tRNA synthetase deficiency
|
Orphanet_572798 |
|
|
GSD due to aldolase A deficiency
|
Orphanet_57 |
|
|
Glycogenosis due to aldolase A deficiency
|
Orphanet_57 |
|
|
RFVT2-related riboflavin transporter deficiency
|
Orphanet_572543 |
|
|
RFVT3-related riboflavin transporter deficiency
|
Orphanet_572550 |
|
|
Bartter syndrome type 5
|
Orphanet_570371 |
|
|
Bartter syndrome type V
|
Orphanet_570371 |
|
|
Genetic hemolytic uremic syndrome
|
Orphanet_576742 |
|
|
CAVC without ventricular hypoplasia
|
Orphanet_576227 |
|
