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
Rare epithelial tumor of pancreas Orphanet_424033
Rare epithelial tumor of rectum Orphanet_423998
Rare epithelial tumor of small bowel Orphanet_425368
Rare epithelial tumor of small intestine Orphanet_425368
Pascual-Castroviejo syndrome type 2 Orphanet_42775
Spinocerebellar ataxia type 38 Orphanet_423296
Spinocerebellar ataxia type 40 Orphanet_423275
Congenital myopathy with myasthenic-like onset Orphanet_424107
STING-associated vasculopathy with onset in infancy Orphanet_425120
Marshall syndrome with periodic fever Orphanet_42642
Keratoderma with woolly hair type IV Orphanet_420686