| 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.
|
Paroxysmal kinesigenic choreathetosis
|
Orphanet_98809 |
|
|
Paroxystic non-kinesigenic choreoathetosis
|
Orphanet_98810 |
|
|
Coloboma of choroid and retina
|
Orphanet_98942 |
|
|
Primary mediastinal clear cell lymphoma of B-cell type
|
Orphanet_98838 |
|
|
Syndromic eyelid coloboma
|
Orphanet_98566 |
|
|
Syndromic palpebral coloboma
|
Orphanet_98566 |
|
|
Microphthalmia with colobomatous cyst
|
Orphanet_98938 |
|
|
Atrioventricular septal defect
|
Orphanet_98722 |
|
|
Autosomal recessive congenital cerebellar ataxia
|
Orphanet_98095 |
|
|
Lisch epithelial corneal dystrophy
|
Orphanet_98955 |
|
|
Gelatinous drop-like corneal dystrophy
|
Orphanet_98957 |
|
|
Subepithelial mucinous corneal dystrophy
|
Orphanet_98959 |
|
|
Curly fiber corneal dystrophy
|
Orphanet_98960 |
|
|
Atypical granular corneal dystrophy
|
Orphanet_98961 |
|
|
Superficial granular corneal dystrophy
|
Orphanet_98961 |
|
