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
CDG-IIn Orphanet_468699
CDG2N Orphanet_468699
SLC39A8-CDG Orphanet_468699
SLC39A8 deficiency Orphanet_468699
Carbohydrate deficient glycoprotein syndrome type IIn Orphanet_468699
Congenital disorder of glycosylation type 2n Orphanet_468699
Congenital disorder of glycosylation type IIn Orphanet_468699
CDG syndrome type IIn Orphanet_468699