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
Non-specific autoimmune CA without characteristic antibodies Orphanet_624268
Primary Autoimmune Cerebellar Ataxia Orphanet_624268
Alpha-sarcoglycan-related LGMD R3 Orphanet_62
Spondylometaphyseal dysplasia, Sedaghatian-like type Orphanet_622934
Non-syndromic sagittal and bilateral coronal synostosis Orphanet_620205
Isolated bicoronal and metopic craniosynostosis Orphanet_620198
Non-syndromic bicoronal and metopic craniosynostosis Orphanet_620198
Isolated unicoronal and sagittal craniosynostosis Orphanet_620186
Non-syndromic unicoronal and sagittal craniosynostosis Orphanet_620186
Isolated metopic and sagittal craniosynostosis Orphanet_620192
Non-syndromic metopic and sagittal craniosynostosis Orphanet_620192
Isolated bicoronal and sagittal craniosynostosis Orphanet_620205
Non-syndromic bicoronal and sagittal craniosynostosis Orphanet_620205
Non-syndromic metopic and sagittal suture synostosis Orphanet_620192
Superior mesenteric artery syndrome Orphanet_622099