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
PNPO deficiency Orphanet_79096
Pyridoxamine 5'-oxidase deficiency Orphanet_79096
PNPO-related neonatal epileptic encephalopathy Orphanet_79096
Pyridoxamine 5'-phosphate oxidase deficiency Orphanet_79096
Pyridoxal phosphate-dependent seizures Orphanet_79096
Pyridoxal phosphate-responsive seizures Orphanet_79096