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
X-linked dHMN Orphanet_404538
FAMM-PC syndrome Orphanet_404560
FAMMM syndrome Orphanet_404560
Juvenile polyarthritis Orphanet_404580
Polyarticular JIA Orphanet_404580
Adenosine deaminase 2 deficiency Orphanet_404553
Helsmoortel-Van Der Aa Syndrome Orphanet_404448
Deficiency of IL-36R antagonist Orphanet_404546
Deficiency of IL-36Ra Orphanet_404546
Familial adrenal adenoma Orphanet_404
Deficiency of adenosine deaminase 2 Orphanet_404553
Juvenile polyarticular arthritis Orphanet_404580
Spinal muscular atrophy with respiratory distress type 2 Orphanet_404521
Spinocerebellar ataxia autosomal recessive type 23 Orphanet_404493
Rare genetic bone development disorder Orphanet_404584