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
Genetic systemic disease with glomerulopathy as a major feature Orphanet_567556
Rare corneal disorder Orphanet_519282
Rare scleral disorder Orphanet_519298
Rare choroidal disorder Orphanet_519309
Rare macular disorder Orphanet_519313
Rare retinal disorder Orphanet_519315
Primary orthostatic disorder Orphanet_521236
PLAA-associated neurodevelopmental disorder Orphanet_521426
SYT1-related neurodevelopmental disorder Orphanet_522077
Complex neurodevelopmental disorder Orphanet_528084
Kernicterus spectrum disorder Orphanet_529808
GNAO1-related neurodevelopmental disorder Orphanet_592564
Rare genetic disorder involving multiple structures of the eye Orphanet_522578
Chronic lymphoproliferative disorder of NK-cells Orphanet_512017
Chronic lymphoproliferative disorder of natural killer cells Orphanet_512017