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
CIUE Orphanet_615970
Spastic paraparesis-cataracts-speech delay syndrome Orphanet_615938
Granuloma of Lever Orphanet_615943
Granuloma faciale Orphanet_615943
Lethal 1p36.33 deletion syndrome Orphanet_615986
Acute reversible leukoencephalopathy due to SLC13A3 deficiency Orphanet_615964
Familial atrial myxoma Orphanet_615
Facial granuloma of Lever Orphanet_615943
Chronic intervillositis of unknown etiology Orphanet_615970
Fatty acyl-CoA reductase 1 superactivity Orphanet_615938