| 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.
|
SPG67
|
Orphanet_401820 |
|
|
SPG69
|
Orphanet_401830 |
|
|
SPG70
|
Orphanet_401835 |
|
|
SPG71
|
Orphanet_401840 |
|
|
SPG72
|
Orphanet_401849 |
|
|
NFU1 deficiency
|
Orphanet_401869 |
|
|
BOLA3 deficiency
|
Orphanet_401874 |
|
|
AXIN2-related AFAP
|
Orphanet_401911 |
|
|
Fibrolamellar hepatocarcinoma
|
Orphanet_401920 |
|
|
Monosomy 9q31.1q31.3
|
Orphanet_401923 |
|
|
Monosomy 14q24.1q24.3
|
Orphanet_401935 |
|
|
CA-VA deficiency
|
Orphanet_401948 |
|
|
MEND syndrome
|
Orphanet_401973 |
|
|
Monosomy 1p31p32
|
Orphanet_401986 |
|
|
Systemic karyomegaly
|
Orphanet_401996 |
|
