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 10 syndrome Orphanet_1438
Ring chromosome 12 Orphanet_1439
Ring chromosome 12 syndrome Orphanet_1439
Regional choroidal atrophy and alopecia Orphanet_1433
Paroxysmal dystonic choreoathetosis Orphanet_1431
X-linked skeletal dysplasia-intellectual disability syndrome Orphanet_1436
Choroidal atrophy-alopecia syndrome Orphanet_1433
Xq21 microdeletion syndrome Orphanet_1435