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
Monosomy 8p23.1 Orphanet_251071
Trisomy 8p23.1 Orphanet_251076
Microcephalia vera Orphanet_2512
Microcephaly vera Orphanet_2512
True microcephaly Orphanet_2512
Drug-induced vasculitis Orphanet_251325
Unclassified vasculitis Orphanet_251328
Ataxia-telangiectasia-like disorder Orphanet_251347
HbS-beta-thalassemia syndrome Orphanet_251359
HbSC disease Orphanet_251365
HbSD disease Orphanet_251370
HbSE disease Orphanet_251375
CK syndrome Orphanet_251383
JEB-nH loc Orphanet_251393
Localized JEB Orphanet_251393