ORDO Find_IDs Find_Terms Annotation
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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
Label
Id
FSHD Orphanet_269
PTCD Orphanet_269229
FSH dystrophy Orphanet_269
Facioscapulohumeral dystrophy Orphanet_269
Facioscapulohumeral myopathy Orphanet_269
Landouzy-Dejerine dystrophy Orphanet_269
Landouzy-Dejerine myopathy Orphanet_269
Neutropenia-monocytopenia-deafness syndrome Orphanet_2690
Encephaloclastic disorder Orphanet_269190
Glioependymal/ependymal cyst Orphanet_269197
Bifid nose Orphanet_2695
ARC syndrome Orphanet_2697
Bart-Pumphrey syndrome Orphanet_2698
FCD type IIa Orphanet_269001
FCD type IIb Orphanet_269008