| 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.
|
Beta-alanine synthase deficiency
|
Orphanet_65287 |
|
|
Ornithine carbamoyltransferase deficiency
|
Orphanet_664 |
|
|
Ornithine transcarbamylase deficiency
|
Orphanet_664 |
|
|
3-methylglutaconyl-CoA hydratase deficiency
|
Orphanet_67046 |
|
|
3MG-CoA hydratase deficiency
|
Orphanet_67046 |
|
|
Factor IX deficiency, Leyden type
|
Orphanet_617930 |
|
|
Paraneoplastic cerebellar degeneration
|
Orphanet_623626 |
|
|
Subacute cerebellar degeneration
|
Orphanet_623626 |
|
|
Late-onset retinal degeneration
|
Orphanet_67042 |
|
|
Spastic paraparesis-cataracts-speech delay syndrome
|
Orphanet_615938 |
|
|
Lethal 1p36.33 deletion syndrome
|
Orphanet_615986 |
|
|
3q subtelomere deletion syndrome
|
Orphanet_65286 |
|
|
Chromosome 22q13.3 deletion syndrome
|
Orphanet_662169 |
|
|
Autosomal recessive demyelinating Charcot-Marie-Tooth
|
Orphanet_64749 |
|
|
Autosomal dominant demyelinating Charcot-Marie-Tooth disease
|
Orphanet_65753 |
|
