| 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.
|
COXPD2
|
Orphanet_254920 |
|
|
COXPD4
|
Orphanet_254925 |
|
|
COXPD7
|
Orphanet_254930 |
|
|
Del(19)(p13.12)
|
Orphanet_254346 |
|
|
LGMD2Q
|
Orphanet_254361 |
|
|
LIMD
|
Orphanet_254857 |
|
|
LIMM
|
Orphanet_254857 |
|
|
MSCAE
|
Orphanet_254881 |
|
|
SCAE
|
Orphanet_254881 |
|
|
SPAX4
|
Orphanet_254343 |
|
|
adPEO
|
Orphanet_254892 |
|
|
arPEO
|
Orphanet_254886 |
|
|
Spondylometaphyseal dysplasia
|
Orphanet_254 |
|
|
Isolated microphthalmia-anophthalmia-coloboma
|
Orphanet_2542 |
|
|
Monosomy 19p13.12
|
Orphanet_254346 |
|
