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-Im Orphanet_91131
CDG1M Orphanet_91131
DK1-CDG Orphanet_91131
Dolichol kinase deficiency Orphanet_91131
CDG syndrome type Im Orphanet_91131
Carbohydrate deficient glycoprotein syndrome type Im Orphanet_91131
Hypotonia and ichthyosis due to dolichol phosphate deficiency Orphanet_91131
Congenital disorder of glycosylation type 1m Orphanet_91131
Congenital disorder of glycosylation type Im Orphanet_91131