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
LHON Orphanet_104
Maroteaux-Verloes-Stanescu syndrome Orphanet_1040
Metaphyseal anadysplasia Orphanet_1040
Fetal anasarca Orphanet_1041
Fetal hydrops Orphanet_1041
Hydrops fetalis Orphanet_1041
Water-West syndrome Orphanet_1046
Sideroblastic anemia Orphanet_1047
Isolated anencephaly/exencephaly Orphanet_1048
Lethal hemolytic anemia-genital anomalies syndrome Orphanet_1046
Leber optic atrophy Orphanet_104
Rare inflammatory bowel disease Orphanet_104012
Congenital intestinal disease due to an enzymatic defect Orphanet_104006
Intestinal disease due to fat malabsorption Orphanet_104005
Intestinal disease due to vitamin absorption anomaly Orphanet_104004