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
COXPD20 Orphanet_420728
COXPD21 Orphanet_420733
DYT23 Orphanet_420492
DYT24 Orphanet_420485
EPM8 Orphanet_424027
Hypochondroplasia Orphanet_429
IPMN Orphanet_424058
Iminoglycinuria Orphanet_42062
LGMD2Y Orphanet_424261
MCADD Orphanet_42
SAVI Orphanet_425120
SCA38 Orphanet_423296
SCA40 Orphanet_423275
TMBTS Orphanet_420561
ACADM deficiency Orphanet_42