| 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.
|
ZIC1-related syndromic craniosynostosis
|
Orphanet_672985 |
|
|
3-methylglutaconyl-CoA hydratase deficiency
|
Orphanet_67046 |
|
|
3MG-CoA hydratase deficiency
|
Orphanet_67046 |
|
|
Late-onset retinal degeneration
|
Orphanet_67042 |
|
|
Cutaneous reactive dermatoses
|
Orphanet_673574 |
|
|
Proteoglycan-related bone disorder
|
Orphanet_674499 |
|
|
Early-onset autoinflammatory disorder due to HA20
|
Orphanet_674762 |
|
|
OPA3, autosomal dominant
|
Orphanet_67036 |
|
|
Combined immunodeficiency due to FOXN1 haploinsufficiency
|
Orphanet_676039 |
|
|
Early-onset AID due to HA20
|
Orphanet_674762 |
|
|
Serous maculopathy due to aspecific choroidopathy
|
Orphanet_674958 |
|
|
Segmental odontomaxillary dysplasia
|
Orphanet_67039 |
|
|
Intravascular papillary endothelial hyperplasia
|
Orphanet_673525 |
|
|
Reactive papillary endothelial hyperplasia
|
Orphanet_673525 |
|
|
Congenital hypomelanotic freckle
|
Orphanet_674935 |
|
