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
Ring chromosome 13 Orphanet_96176
Ring chromosome 13 syndrome Orphanet_96176
Distal duplication 13q Orphanet_96105
Distal trisomy 13q Orphanet_96105
Telomeric duplication 13q Orphanet_96105
Distal deletion 13q34 Orphanet_96168
Subtelomeric deletion 13q34 Orphanet_96168
Distal deletion 14q Orphanet_96150
Distal monosomy 14q Orphanet_96150
Telomeric deletion 14q Orphanet_96150
Ring chromosome 15 Orphanet_96177
Ring chromosome 15 syndrome Orphanet_96177
Ring chromosome 16 Orphanet_96178
Ring chromosome 16 syndrome Orphanet_96178
Distal duplication 16p Orphanet_96078