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
Beta-glucuronidase deficiency Orphanet_584
Sly disease Orphanet_584
Austin disease Orphanet_585
BCR-ABL1-like B-ALL Orphanet_585909
Hypodiploid ALL Orphanet_585942
Cystic fibrosis Orphanet_586
MEB syndrome Orphanet_588
Muscle-eye-brain disease Orphanet_588
Muscle-eye-brain syndrome Orphanet_588
Acquired myasthenia Orphanet_589
Myasthenia gravis Orphanet_589
Liberfarb syndrome Orphanet_589442
PADDAS syndrome Orphanet_589515
Dystonia 28 Orphanet_589618
KMT2B-related dystonia Orphanet_589618