| 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.
|
Deletion 2q37
|
Orphanet_1001 |
|
|
Monosomy 2q37qter
|
Orphanet_1001 |
|
|
Thymic tumor
|
Orphanet_100100 |
|
|
Ipp-Gelfand syndrome
|
Orphanet_1006 |
|
|
Shokeir syndrome
|
Orphanet_1008 |
|
|
ALAD porphyria
|
Orphanet_100924 |
|
|
FRAXF syndrome
|
Orphanet_100974 |
|
|
Benallegue-Lacete syndrome
|
Orphanet_100978 |
|
|
Strümpell disease
|
Orphanet_100984 |
|
|
Kjellin syndrome
|
Orphanet_100996 |
|
|
Silver syndrome
|
Orphanet_100998 |
|
|
Mosaic trisomy 3
|
Orphanet_100071 |
|
|
Hereditary cystatin C amyloid angiopathy
|
Orphanet_100008 |
|
|
Porphyria of Doss
|
Orphanet_100924 |
|
|
ABeta amyloidosis, Dutch type
|
Orphanet_100006 |
|
