| 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.
|
Syndromic epicanthus
|
Orphanet_98574 |
|
|
Syndromic telecanthus
|
Orphanet_98575 |
|
|
Congenital alacrima
|
Orphanet_98604 |
|
|
Urrets-Zavalia syndrome
|
Orphanet_98606 |
|
|
Syndromic hyperopia
|
Orphanet_98622 |
|
|
Syndromic keratoconus
|
Orphanet_98623 |
|
|
Rare cataract
|
Orphanet_98640 |
|
|
Syndromic cataract
|
Orphanet_98641 |
|
|
Color-vision disease
|
Orphanet_98658 |
|
|
Oculomotor apraxia
|
Orphanet_98688 |
|
|
Aortic malformation
|
Orphanet_98718 |
|
|
Machado disease
|
Orphanet_98757 |
|
|
Machado-Joseph disease
|
Orphanet_98757 |
|
|
ATR-16 syndrome
|
Orphanet_98791 |
|
|
Isochromosomy Yp
|
Orphanet_98797 |
|
