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
Monosomy 4qter Orphanet_96145
Deletion 10qter Orphanet_96148
Monosomy 10qter Orphanet_96148
Monosomy 12qter Orphanet_96149
Rec(8) syndrome Orphanet_96167
Rec8 syndrome Orphanet_96167
Monosomy 13q34 Orphanet_96168
Der(22)t(11;22) syndrome Orphanet_96170
Emanuel syndrome Orphanet_96170
Ring 2 Orphanet_96171
Ring 3 Orphanet_96172
Ring 9 Orphanet_96173
Ring 11 Orphanet_96175
r(11) syndrome Orphanet_96175
Ring 13 Orphanet_96176