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
Early-onset autoinflammatory syndrome associated with TNFAIP3 Orphanet_674762
Actinomyopathy-associated syndromic thrombocytopenia Orphanet_674653
Amoebiasis due to Entamoeba histolytica Orphanet_67
Malignant vascular tumor Orphanet_673466
Benign vascular tumor Orphanet_673470
Borderline vascular tumor Orphanet_673473
Locally aggressive tumors Orphanet_673473
3-methylglutaconic aciduria type 1 Orphanet_67046
Spinocerebellar ataxia type 27B Orphanet_675216
3-methylglutaconic aciduria type 3 Orphanet_67047
3-methylglutaconic aciduria type 4 Orphanet_67048
Bilateral diffuse uveal melanocytic proliferation disease Orphanet_674968
Perifoveal exudative vascular anomalous complex Orphanet_674930
Primary cutis verticis gyrata Orphanet_671
Multiple evanescent white dot syndrome Orphanet_674953