ORDO Find_IDs Find_Terms Annotation
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
Label
Id
Sanfilippo disease Orphanet_581
Cramp-fasciculation syndrome Orphanet_581271
Morquio disease Orphanet_582
ARSB deficiency Orphanet_583
ASB deficiency Orphanet_583
Maroteaux-Lamy disease Orphanet_583
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