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
Mucopolysaccharidosis type VII Orphanet_584
Acquired factor VII deficiency Orphanet_599495
Acquired factor VIII deficiency Orphanet_599480
Platelet type-von Willebrand disease Orphanet_52530
Acquired factor X deficiency Orphanet_599501
Filamin A-related X-linked myxomatous valvular dysplasia Orphanet_555877
Acquired factor XI deficiency Orphanet_599507
GSD type XII Orphanet_57
Glycogenosis type XII Orphanet_57
Carbonic anhydrase XII deficiency Orphanet_542657
Acquired factor XIII deficiency Orphanet_599513
subtype of a disorder Orphanet_557494
Microcephaly-short stature-limb abnormalities syndrome Orphanet_572773
Corticosteroid-sensitive aseptic abscess syndrome Orphanet_54251
Aseptic systemic abscesses Orphanet_54251