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
Osebold-Remondini syndrome Orphanet_93382
FGFR3-related chondrodysplasia Orphanet_93420
Bone filaminopathy Orphanet_93425
Spondylodysplastic dysplasia Orphanet_93434
Acromelic dysplasia Orphanet_93436
Acromesomelic dysplasia Orphanet_93437
Chondrodysplasia punctata Orphanet_93442
Dysostosis multiplex Orphanet_93448
Primary osteolysis Orphanet_93449
Patellar dysostosis Orphanet_93455
Overgrowth syndrome Orphanet_93460
Lethal chondrodysplasia Orphanet_93465
Hurler disease Orphanet_93473
Hurler syndrome Orphanet_93473
Scheie syndrome Orphanet_93474