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
Hypophyseal gigantism Orphanet_99725
Pituitary gigantism Orphanet_99725
Fluctuating myotonia Orphanet_99734
Myotonia fluctuans Orphanet_99734
Myotonia permanens Orphanet_99735
ACZ-responsive myotonia Orphanet_99736
Acetazolamide-responsive myotonia Orphanet_99736
Painful myotonia Orphanet_99736
King-Denborough syndrome Orphanet_99741
Koussef-Nichols syndrome Orphanet_99741
Typhoid fever Orphanet_99745
Typhoidal salmonellosis Orphanet_99745
Pontiac fever Orphanet_99748
Infantile agranulocytosis Orphanet_99749
Kostmann syndrome Orphanet_99749