| 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.
|
Temple syndrome
|
Orphanet_254516 |
|
|
Kagami-Ogata syndrome
|
Orphanet_254519 |
|
|
Paternal del(14)(q32.2)
|
Orphanet_254525 |
|
|
Maternal del(14)(q32.2)
|
Orphanet_254528 |
|
|
Thomas-Jewett-Raines syndrome
|
Orphanet_2547 |
|
|
Benign hyperferritinemia
|
Orphanet_254704 |
|
|
mtDNA-related dystonia
|
Orphanet_254851 |
|
|
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
|
Orphanet_254898 |
|
|
Moeschler-Clarren syndrome
|
Orphanet_2549 |
|
|
Maternal monosomy 14q32.2
|
Orphanet_254528 |
|
|
LGMD type 2Q
|
Orphanet_254361 |
|
|
Distal monosomy 7q11.23
|
Orphanet_254351 |
|
|
RI-CMT type B
|
Orphanet_254334 |
|
|
Isolated cytochrome C oxidase deficiency
|
Orphanet_254905 |
|
|
Severe C12ORF65-related COXPD
|
Orphanet_254930 |
|
