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
Infantile nephronophthisis Orphanet_93591
Juvenile nephronophthisis Orphanet_93592
Glycolic aciduria Orphanet_93598
L-glyceric aciduria Orphanet_93599
XDH deficiency Orphanet_93601
XO deficiency Orphanet_93601
XOR deficiency Orphanet_93601
AR pRTA Orphanet_93607
AD dRTA Orphanet_93608
Alpha-thalassemia intermedia Orphanet_93616
HbH disease Orphanet_93616
Autoinflammatory syndrome Orphanet_93665
Juvenile DM Orphanet_93672
Juvenile dermatomyositis Orphanet_93672
Malformation syndrome Orphanet_93890