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
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
Non-specific supratentorial AE with characteristic antibodies Orphanet_624166
Non-specific supratentorial AE without characteristic antibodies Orphanet_624178
Isolated pachycephaly Orphanet_620178
Isolated pansynostosis Orphanet_620212
Non-syndromic pansynostosis Orphanet_620212
Congenital methemoglobinemia Orphanet_621
Hereditary methemoglobinemia Orphanet_621
Methylcobalamin deficiency Orphanet_622
Autoimmune encephalitis Orphanet_622014