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
AD-SPG9A Orphanet_447753
AD-SPG9B Orphanet_447757
AR-SPG9B Orphanet_447760
CMT2V Orphanet_447964
COXPD25 Orphanet_447954
Dup(19)(p13.3) Orphanet_447980
KTOC Orphanet_447777
PPAP Orphanet_447877
Marchiafava-Micheli disease Orphanet_447
NIK deficiency Orphanet_447731
Sclerosing cholangitis Orphanet_447771
Odontogenic keratocystoma Orphanet_447777
TACH syndrome Orphanet_447896
ASCT1 deficiency Orphanet_447997
Lipoyl transferase 2 deficiency Orphanet_447795