| 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.
|
Autosomal recessive intermediate Charcot-Marie-Tooth disease
|
Orphanet_268337 |
|
|
Classic branched-chain ketoaciduria
|
Orphanet_268145 |
|
|
RAS-associated autoimmune leukoproliferative disease
|
Orphanet_268114 |
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2B
|
Orphanet_268 |
|
|
Midline brain malformation
|
Orphanet_268926 |
|
|
Midline cerebral malformation
|
Orphanet_268926 |
|
|
Isolated posterior meningocele
|
Orphanet_268810 |
|
|
Dysferlin-related limb-girdle muscular dystrophy R2
|
Orphanet_268 |
|
|
Spheroid body myopathy
|
Orphanet_268129 |
|
|
Adult idiopathic neutropenia
|
Orphanet_2688 |
|
|
Unilateral focal polymicrogyria
|
Orphanet_268947 |
|
|
Primary tethered spinal cord syndrome
|
Orphanet_268861 |
|
|
Hypomyelination neuropathy-arthrogryposis syndrome
|
Orphanet_2680 |
|
|
21q22.13q22.2 microdeletion syndrome
|
Orphanet_268261 |
|
|
Classic maple syrup urine disease
|
Orphanet_268145 |
|
