ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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-Ih Orphanet_79325
CDG1H Orphanet_79325
ALG8-CDG Orphanet_79325
Glucosyltransferase 2 deficiency Orphanet_79325
Carbohydrate deficient glycoprotein syndrome type Ih Orphanet_79325
Congenital disorder of glycosylation type 1h Orphanet_79325
Congenital disorder of glycosylation type Ih Orphanet_79325
CDG syndrome type Ih Orphanet_79325