| 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.
|
Quadriceps-sparing myopathy
|
Orphanet_602 |
|
|
CIMDAG syndrome
|
Orphanet_603448 |
|
|
COMMAD syndrome
|
Orphanet_603494 |
|
|
PERCHING syndrome
|
Orphanet_603684 |
|
|
Ricker disease
|
Orphanet_606 |
|
|
Ricker syndrome
|
Orphanet_606 |
|
|
Nemaline myopathy
|
Orphanet_607 |
|
|
Distal titinopathy
|
Orphanet_609 |
|
|
Udd myopathy
|
Orphanet_609 |
|
|
Bethlem myopathy
|
Orphanet_610 |
|
|
Alkuraya-Kucinskas syndrome
|
Orphanet_610569 |
|
|
OGIN Syndrome
|
Orphanet_611201 |
|
|
Oculogastrointestinal-neurodevelopmental syndrome
|
Orphanet_611201 |
|
|
SHILCA syndrome
|
Orphanet_611207 |
|
|
AMeD syndrome
|
Orphanet_611216 |
|
