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
Diffuse-type giant cell tumor Orphanet_66627
Tenosynovial giant cell tumor Orphanet_66627
Brittle bone disease Orphanet_666
Glass bone disease Orphanet_666
Sensorineural deafness-early graying-essential tremor syndrome Orphanet_66633
Congenital pseudarthrosis of the clavicle Orphanet_66630
Congenital pseudoarthrosis of the clavicle Orphanet_66630
Mast cell sarcoma Orphanet_66661
Goldberg-Shprintzen megacolon syndrome Orphanet_66629
Pigmented villonodular synovitis Orphanet_66627
Obesity due to congenital leptin deficiency Orphanet_66628
3-methylglutaconic aciduria type 5 Orphanet_66634
Dilated cardiomyopathy with ataxia Orphanet_66634