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
FV short isoforms-related bleeding disorder Orphanet_599519
Acute transverse myelitis with anti-MOG antibodies Orphanet_592873
X-linked centronuclear myopathy Orphanet_596
X-linked myotubular myopathy Orphanet_596
Gestational trophoblastic neoplasm Orphanet_59305
Syndrome of reduced sensitivity to thyroid hormone Orphanet_596426
Isolated melanocytic schwannoma Orphanet_590539
Isolated melanotic schwannoma Orphanet_590539
Myelinoclastic diffuse sclerosis Orphanet_59298
Factor V short isoforms-related bleeding disorder Orphanet_599519
Epidermolysis bullosa simplex with extracutaneous involvement Orphanet_595351
Epidermolysis bullosa simplex without extracutaneous involvement Orphanet_595346
Fibrous dysplasia/McCune-Albright spectrum Orphanet_595216
Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Orphanet_592850
Neuromyelitis optica spectrum disorder with anti-MOG antibodies Orphanet_592856