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
Monosomy 1q21.1 Orphanet_250989
Trisomy 1q21.1 Orphanet_250994
Monosomy 1q41q42 Orphanet_250999
Polyepiphyseal dysplasia Orphanet_251
Micro syndrome Orphanet_2510
Monosomy 2q31.1 Orphanet_251014
Monosomy 2q32 Orphanet_251019
Monosomy 2q32q33 Orphanet_251019
Monosomy 2q33.1 Orphanet_251028
Trisomy 3q29 Orphanet_251038
Ring 5 Orphanet_251043
Monosomy 6p22 Orphanet_251046
Monosomy 6q25 Orphanet_251056
Monosomy 7q31 Orphanet_251061
Monosomy 8p11.2 Orphanet_251066