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
kEDS Orphanet_536545
spEDS Orphanet_536471
spEDS-B3GALT6 Orphanet_536467
Albers-Schönberg osteopetrosis Orphanet_53
Lipoid proteinosis Orphanet_530
Urbach-Wiethe disease Orphanet_530
Caroli disease Orphanet_53035
Lamb-Shaffer syndrome Orphanet_530983
Miller-Dieker syndrome Orphanet_531
Monosomy 17p13.3 Orphanet_531
Muenke syndrome Orphanet_53271
Listeria infection Orphanet_533
Brody myopathy Orphanet_53347
Lubag syndrome Orphanet_53351
X-linked dystonia-parkinsonism Orphanet_53351