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
Ring 15 Orphanet_96177
Ring 16 Orphanet_96178
Maternal UPD(20) Orphanet_96186
Paternal UPD(20) Orphanet_96194
Cushing disease Orphanet_96253
Somatotropic adenoma Orphanet_96256
48,XXXY syndrome Orphanet_96263
49,XXXXY syndrome Orphanet_96264
Isochromosome Y Orphanet_96325
Anorectal malformation Orphanet_96346
Acromesomelic dwarfism Orphanet_968
Acromicric dysplasia Orphanet_969
Mosaic trisomy 10 Orphanet_96063
Distal duplication 10q Orphanet_96102
Distal trisomy 10q Orphanet_96102