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
Partial monosomy of the short arm of chromosome 16 Orphanet_261956
Partial deletion of the short arm of chromosome 17 Orphanet_261965
Partial monosomy of the short arm of chromosome 17 Orphanet_261965
Partial deletion of the short arm of chromosome 18 Orphanet_261974
Partial monosomy of the short arm of chromosome 18 Orphanet_261974
Partial deletion of the short arm of chromosome 19 Orphanet_261983
Partial monosomy of the short arm of chromosome 19 Orphanet_261983
Partial deletion of the short arm of chromosome 20 Orphanet_261992
Partial monosomy of the short arm of chromosome 20 Orphanet_261992
Partial deletion of the short arm of chromosome 6 Orphanet_261902
Partial monosomy of the short arm of chromosome 6 Orphanet_261902
Partial deletion of the short arm of chromosome 7 Orphanet_261911
Partial monosomy of the short arm of chromosome 7 Orphanet_261911
Partial deletion of the short arm of chromosome 8 Orphanet_261920
Partial monosomy of the short arm of chromosome 8 Orphanet_261920