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 deletion of chromosome 1p Orphanet_261857
Partial monosomy of chromosome 1p Orphanet_261857
Partial deletion of chromosome 2 Orphanet_261771
Partial monosomy of chromosome 2 Orphanet_261771
Partial deletion of chromosome 20 Orphanet_261846
Partial monosomy of chromosome 20 Orphanet_261846
Partial duplication of chromosome 20p Orphanet_261318
Partial trisomy of chromosome 20p Orphanet_261318
Partial deletion of chromosome 20p Orphanet_261992
Partial monosomy of chromosome 20p Orphanet_261992
Partial deletion of chromosome 2p Orphanet_261866
Partial monosomy of chromosome 2p Orphanet_261866
Partial deletion of chromosome 3 Orphanet_261776
Partial monosomy of chromosome 3 Orphanet_261776
Partial deletion of chromosome 3p Orphanet_261875