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
Luteinizing hormone-releasing hormone deficiency with ataxia Orphanet_1173
Syndromic anorectal malformation Orphanet_117573
Autosomal recessive spinocerebellar ataxia type 2 Orphanet_1170
Cerebellar ataxia-hypogonadism syndrome Orphanet_1173
Ataxia-tapetoretinal degeneration syndrome Orphanet_1178
Benign paroxysmal tonic upgaze of childhood with ataxia Orphanet_1179