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
Congenital agenesis of the scrotum Orphanet_495879
Progressive diffuse palmoplantar keratoderma Orphanet_495
Transgrediens et progrediens PPK Orphanet_495
Transgrediens et progrediens palmoplantar keratoderma Orphanet_495
9q33.3q34.11 microdeletion syndrome Orphanet_495818
Keratosis palmoplantaris transgrediens et progrediens Orphanet_495
Charcot-Marie-Tooth disease type 2T Orphanet_495274