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
Cerebellofaciodental syndrome Orphanet_444072
CHOPS syndrome Orphanet_444077
COPA syndrome Orphanet_444092
Hereditary amyloidosis Orphanet_444116
PLACK syndrome Orphanet_444138
TRIANGLE disease Orphanet_444463
Secondary vasculitis Orphanet_445197
Neonatal hemochromatosis Orphanet_446
Marchiafava-Micheli disease Orphanet_447
NIK deficiency Orphanet_447731
Sclerosing cholangitis Orphanet_447771
Odontogenic keratocystoma Orphanet_447777
TACH syndrome Orphanet_447896
ASCT1 deficiency Orphanet_447997
Lichtenstein-Knorr syndrome Orphanet_448251