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
Dup(17)(q11.2) Orphanet_139474
Grisart-Destrée syndrome Orphanet_139474
Trisomy 17q11.2 Orphanet_139474
17q11.2 microduplication syndrome Orphanet_139474