| 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.
|
Mesial temporal lobe epilepsy with hippocampal sclerosis
|
Orphanet_99701 |
|
|
Bird fancier lung
|
Orphanet_99908 |
|
|
Adult-onset vitelliform macular dystrophy
|
Orphanet_99000 |
|
|
Butterfly-shaped pigmentary macular dystrophy
|
Orphanet_99001 |
|
|
Granulosa cell malignant tumor
|
Orphanet_99915 |
|
|
Discrete fixed membranous subaortic stenosis
|
Orphanet_99051 |
|
|
Hippocampal sclerosis-related mesial temporal lobe epilepsy
|
Orphanet_99701 |
|
|
Amish lethal microcephaly
|
Orphanet_99742 |
|
|
Congenital unguarded mitral orifice
|
Orphanet_99060 |
|
|
Congenital supravalvular mitral ring
|
Orphanet_99059 |
|
|
Trisomy 9 mosaicism
|
Orphanet_99776 |
|
|
Genetic recurrent myoglobinuria
|
Orphanet_99845 |
|
|
Autosomal dominant myoglobinuria
|
Orphanet_99846 |
|
|
Exercise-induced delayed-onset myotonia
|
Orphanet_99734 |
|
|
ACZ-responsive congenital myotonia
|
Orphanet_99736 |
|
