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
GSDIV, progressive hepatic form Orphanet_308621
GSDIV, congenital neuromuscular form Orphanet_308670
GSDIV, childhood neuromuscular form Orphanet_308698
GBE deficiency, non progressive hepatic form Orphanet_308638
GSDIV, fatal perinatal neuromuscular form Orphanet_308655
GBE deficiency, progressive hepatic form Orphanet_308621
GSDIV, non progressive hepatic form Orphanet_308638
Autosomal dominant vitreoretinochoroidopathy Orphanet_3086