| 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.
|
Cochlear nerve deficiency
|
Orphanet_502318 |
|
|
Hyaluronidase 2 deficiency
|
Orphanet_508476 |
|
|
HPRT complete deficiency
|
Orphanet_510 |
|
|
Arylsulfatase A deficiency
|
Orphanet_512 |
|
|
Formiminotransferase cyclodeaminase deficiency
|
Orphanet_51208 |
|
|
Glutamate formiminotransferase deficiency
|
Orphanet_51208 |
|
|
Creatine transporter deficiency
|
Orphanet_52503 |
|
|
Isolated FSH deficiency
|
Orphanet_52901 |
|
|
Familial APOA5 deficiency
|
Orphanet_530849 |
|
|
Familial LMF1 deficiency
|
Orphanet_535453 |
|
|
Familial GPIHBP1 deficiency
|
Orphanet_535458 |
|
|
Congenital lactase deficiency
|
Orphanet_53690 |
|
|
Ornithine decarboxylase deficiency
|
Orphanet_544488 |
|
|
NAD(P)HX dehydratase deficiency
|
Orphanet_555402 |
|
|
NAD(P)HX epimerase deficiency
|
Orphanet_555407 |
|
