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
Distal trisomy 3p Orphanet_96071
Telomeric duplication 3p Orphanet_96071
Mosaic trisomy 4 Orphanet_96059
Distal duplication 4p Orphanet_96072
Distal trisomy 4p Orphanet_96072
Telomeric duplication 4p Orphanet_96072
Distal duplication 4q Orphanet_96096
Distal trisomy 4q Orphanet_96096
Telomeric duplication 4q Orphanet_96096
Distal deletion 4q Orphanet_96145
Distal monosomy 4q Orphanet_96145
Telomeric deletion 4q Orphanet_96145
Mosaic trisomy 5 Orphanet_96060
Distal duplication 5q Orphanet_96097
Distal trisomy 5q Orphanet_96097