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
Rosaï-Dorfman disease Orphanet_158014
Rosaï-Dorfman-Destombes disease Orphanet_158014
Sea-blue histiocytosis Orphanet_158029
Hemophagocytic lymphohistiocytosis Orphanet_158032
Hemophagocytic syndrome Orphanet_158032
Genetic HLH Orphanet_158038
Primary HLH Orphanet_158038
Genetic dementia Orphanet_158124
McGrath syndrome Orphanet_158668
Deletion 13q14 Orphanet_1587
Monosomy 13q14 Orphanet_1587
Distal deletion 10p Orphanet_1580
Distal monosomy 10p Orphanet_1580
Telomeric deletion 10p Orphanet_1580
Non-distal deletion 10q Orphanet_1581