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
Demodicidosis Orphanet_283
Demodicosis Orphanet_283
Lopes-Gorlin syndrome Orphanet_2832
Zori-Stalker-Williams syndrome Orphanet_2835
PEHO syndrome Orphanet_2836
Oculocutaneous tyrosinemia Orphanet_28378
Richner-Hanhart syndrome Orphanet_28378
Kosenow syndrome Orphanet_2839
Pelvis-shoulder dysplasia Orphanet_2839
Scapuloiliac dysostosis Orphanet_2839
Tyrosinemia type 2 Orphanet_28378
Tyrosinemia type II Orphanet_28378
Rhizomelic dysplasia, Patterson-Lowry type Orphanet_2831
Renal caliceal diverticuli-deafness syndrome Orphanet_2838
Renal caliceal diverticuli-hearing loss syndrome Orphanet_2838