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
sFGR Orphanet_617301
sIBM Orphanet_611
sIUGR Orphanet_617301
Bethlem myopathy Orphanet_610
Alkuraya-Kucinskas syndrome Orphanet_610569
OGIN Syndrome Orphanet_611201
Oculogastrointestinal-neurodevelopmental syndrome Orphanet_611201
SHILCA syndrome Orphanet_611207
AMeD syndrome Orphanet_611216
ENDOVE syndrome Orphanet_611223
K+-aggravated myotonia Orphanet_612
K-aggravated myotonia Orphanet_612
Potassium-aggravated myotonia Orphanet_612
Myotonia congenita Orphanet_614
Granuloma faciale Orphanet_615943