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 20q Orphanet_96107
Telomeric duplication 20q Orphanet_96107
Mosaic trisomy 22 Orphanet_96068
Distal duplication 22q Orphanet_96109
Distal trisomy 22q Orphanet_96109
Telomeric duplication 22q Orphanet_96109
Distal duplication 2p Orphanet_96070
Distal trisomy 2p Orphanet_96070
Telomeric duplication 2p Orphanet_96070
Distal duplication 2q Orphanet_96094
Distal trisomy 2q Orphanet_96094
Telomeric duplication 2q Orphanet_96094
Ring chromosome 3 Orphanet_96172
Ring chromosome 3 syndrome Orphanet_96172
Distal duplication 3p Orphanet_96071