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
disorder Orphanet_557493
Non-syndromic ARM Orphanet_557
Oculo-skeleto-dental syndrome Orphanet_557003
Oculoskeletodental syndrome Orphanet_557003
subtype of a disorder Orphanet_557494
group of disorders Orphanet_557492
Spastic ataxia-dysarthria due to glutaminase deficiency Orphanet_557056
Neonatal epileptic encephalopathy due to glutaminase deficiency Orphanet_557064
Non-syndromic anorectal malformation Orphanet_557
Rare disorder with Hirschsprung disease as a major feature Orphanet_557866