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
SIANRF Orphanet_98920
SMARD1 Orphanet_98920
dHMN6 Orphanet_98920
dSMA1 Orphanet_98920
Distal-HMN type 6 Orphanet_98920
Spinal muscular atrophy with respiratory distress type 1 Orphanet_98920
Autosomal recessive distal spinal muscular atrophy type 1 Orphanet_98920
Distal hereditary motor neuropathy type 6 Orphanet_98920
Diaphragmatic spinal muscular atrophy Orphanet_98920