| 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.
|
Charcot-Marie-Tooth disease type 3
|
Orphanet_64748 |
|
|
Charcot-Marie-Tooth disease type 4
|
Orphanet_64749 |
|
|
Niemann-Pick disease type C
|
Orphanet_646 |
|
|
Familial hyperaldosteronism type IV
|
Orphanet_642671 |
|
|
Isolated persistent urogenital sinus
|
Orphanet_647794 |
|
|
MYRF-related cardiac urogenital syndrome
|
Orphanet_647811 |
|
|
Congenital pulmonary vein stenosis
|
Orphanet_642071 |
|
|
Primary pulmonary vein stenosis
|
Orphanet_642071 |
|
|
Obliterative portal venopathy
|
Orphanet_64743 |
|
|
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
|
Orphanet_644 |
|
|
Spinocerebellar ataxia with axonal neuropathy type 2
|
Orphanet_64753 |
|
|
POF associated with fragile X premutation
|
Orphanet_642691 |
|
|
POI associated with fragile X premutation
|
Orphanet_642691 |
|
|
Spondyloepimetaphyseal dysplasia with joint laxity type 1
|
Orphanet_642099 |
|
|
Spondyloepimetaphyseal dysplasia with joint laxity type 3
|
Orphanet_642085 |
|
