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
2p21 deletion syndrome Orphanet_163693
2p21 microdeletion syndrome Orphanet_163693
Bile acid synthesis defect with cholestasis and malabsorption Orphanet_163631
Spondyloepiphyseal dysplasia tarda, Kohn type Orphanet_163665
Alveolar soft tissue sarcoma Orphanet_163699
Enchondromatosis Spranger type II Orphanet_163634
Multiple Enchondromatosis type II Orphanet_163634