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
ACS1 Orphanet_87
Tungiasis Orphanet_879
Sialidosis type 2 Orphanet_87876
Mal de Meleda Orphanet_87503
Apert syndrome Orphanet_87
Down syndrome Orphanet_870
Trisomy 21 Orphanet_870
Aggressive fibromatosis Orphanet_873
Desmoid tumor Orphanet_873
Meleda disease Orphanet_87503
Neuroendocrine neoplasm Orphanet_877
Familial PCCD Orphanet_871
Infantile dysmorphic sialidosis Orphanet_87876
Isolated genetic deafness Orphanet_87884
Non-syndromic genetic deafness Orphanet_87884