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
Kowarski syndrome Orphanet_629
Alport deafness-nephropathy Orphanet_63
Alport syndrome Orphanet_63
Congenital IGHD Orphanet_631
Mitchell Syndrome Orphanet_631248
Distal ABD-filaminopathy Orphanet_63273
Gestational pemphigoid Orphanet_63275
Pemphigoid gestationis Orphanet_63275
Laron syndrome Orphanet_633
Laron-type dwarfism Orphanet_633
Diets-Jongmans Syndrome Orphanet_633004
Kilquist syndrome Orphanet_633021
Delpire-McNeill syndrome Orphanet_633024
BDV syndrome Orphanet_633028
Blakemore-Durmaz-Vasileiou syndrome Orphanet_633028