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
Mandibulofacial dysostosis Orphanet_155899
CPT1A deficiency Orphanet_156
L-CPT1 deficiency Orphanet_156
L-CPTI deficiency Orphanet_156
ANCA-associated vasculitis Orphanet_156152
Isolated dystonia Orphanet_156159
Pure dystonia Orphanet_156159
Renal ciliopathy Orphanet_156162
Retinal ciliopathy Orphanet_156165
Larynx anomaly Orphanet_156249
Tracheal anomaly Orphanet_156252
Dahlberg syndrome Orphanet_1563
Dahlberg-Borer-Newcomer syndrome Orphanet_1563
Lymphedema-hypoparathyroidism syndrome Orphanet_1563
Pierquin syndrome Orphanet_1566