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
Tall stature-intellectual disability-renal anomalies syndrome Orphanet_500095
Congenital optic disc excavation Orphanet_519333
Congenital optic disc excavation of genetic origin Orphanet_522514
Familial multiple discoid fibromas Orphanet_538756
Mucopolysaccharidosis-like plus disease Orphanet_505248
Pseudo-von Willebrand disease Orphanet_52530
Pediatric-onset Basedow disease Orphanet_525731
Pediatric-onset Graves disease Orphanet_525731
Rare teratologic disease Orphanet_52662
Biparietal Alzheimer disease Orphanet_54247
Cold agglutinin disease Orphanet_56425
Human prion disease Orphanet_56970
Rare hepatic disease Orphanet_57146
Variant Creutzfeldt-Jakob disease Orphanet_576370
Iatrogenic Creutzfeldt-Jakob disease Orphanet_576379