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
CDG1E Orphanet_79322
CDG-Ie Orphanet_79322
DPM1-CDG Orphanet_79322
Dol-P-mannosyltransferase deficiency Orphanet_79322
Carbohydrate deficient glycoprotein syndrome type Ie Orphanet_79322
Congenital disorder of glycosylation type 1e Orphanet_79322
Congenital disorder of glycosylation type Ie Orphanet_79322
CDG syndrome type Ie Orphanet_79322