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
Telomeric duplication 10q Orphanet_96102
Distal deletion 10q Orphanet_96148
Distal monosomy 10q Orphanet_96148
Telomeric deletion 10q Orphanet_96148
Ring chromosome 11 Orphanet_96175
Ring chromosome 11 syndrome Orphanet_96175
Distal duplication 11q Orphanet_96103
Distal trisomy 11q Orphanet_96103
Telomeric duplication 11q Orphanet_96103
Distal deletion 12q Orphanet_96149
Distal monosomy 12q Orphanet_96149
Telomeric deletion 12q Orphanet_96149
Non-distal deletion 12q Orphanet_96160
Non-distal monosomy 12q Orphanet_96160
Non-telomeric monosomy 12q Orphanet_96160