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
Chronic MCL Orphanet_566396
Hepatic adenomatosis Orphanet_566841
Liver adenomatosis Orphanet_566841
Aprosencephaly/atelencephaly spectrum Orphanet_566847
Atelencephalic microcephaly Orphanet_566852
Brailsford disease Orphanet_566943
Mueller-Weiss syndrome Orphanet_566943
CATCH 22 Orphanet_567
DiGeorge sequence Orphanet_567
DiGeorge syndrome Orphanet_567
Microdeletion 22q11.2 Orphanet_567
Monosomy 22q11 Orphanet_567
Sedlackova syndrome Orphanet_567
Shprintzen syndrome Orphanet_567
Takao syndrome Orphanet_567