| 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.
|
APDS
|
Orphanet_397596 |
|
|
CMT2R
|
Orphanet_397968 |
|
|
CMT2U
|
Orphanet_397735 |
|
|
CoPAN
|
Orphanet_397725 |
|
|
Del(3)(q27.3)
|
Orphanet_397695 |
|
|
MAN1B1-CDG
|
Orphanet_397941 |
|
|
NBIA6
|
Orphanet_397725 |
|
|
PGBM1
|
Orphanet_397937 |
|
|
SCAR20
|
Orphanet_397709 |
|
|
SPAX2
|
Orphanet_397946 |
|
|
SPG58
|
Orphanet_397946 |
|
|
Horton disease
|
Orphanet_397 |
|
|
Temporal arteritis
|
Orphanet_397 |
|
|
Deep dermatophytosis
|
Orphanet_397587 |
|
|
FHONDA syndrome
|
Orphanet_397618 |
|
