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
Bourneville syndrome Orphanet_805
Tuberous sclerosis Orphanet_805
Scott syndrome Orphanet_806
Seckel syndrome Orphanet_808
Sharp syndrome Orphanet_809
Tuberous sclerosis complex Orphanet_805
Lou Gehrig disease Orphanet_803
Burton skeletal dysplasia Orphanet_800
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Orphanet_800
Amyotrophic lateral sclerosis Orphanet_803
Antiphospholipid antibody syndrome Orphanet_80
Classic antiphospholipid syndrome Orphanet_80
Mixed connective tissue disease Orphanet_809
Schwartz-Jampel syndrome type 1 Orphanet_800