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
Pseudohypoaldosteronism Orphanet_444916
SCAR19 Orphanet_448251
SPG73 Orphanet_444099
Scedosporiosis Orphanet_449280
VMCKD Orphanet_443988
XLDPP Orphanet_443197
XLPP Orphanet_443197
Intermediate PBD-ZSD Orphanet_44
Neonatal adrenoleukodystrophy Orphanet_44
L-ferritin deficiency Orphanet_440731
Bradbury-Eggleston syndrome Orphanet_441
Pure dysautonomia Orphanet_441
Congenital hypothyroidism Orphanet_442
AH amyloidosis Orphanet_442582
Non-specific EOEE Orphanet_442835