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
Primary thymic epithelial tumor Orphanet_99867
Lassa hemorrhagic fever Orphanet_99824
Marburg hemorrhagic fever Orphanet_99826
Congo hemorrhagic fever Orphanet_99827
Crimean hemorrhagic fever Orphanet_99827
Crimean-Congo hemorrhagic fever Orphanet_99827
Familial isolated hyperparathyroidism Orphanet_99879
Familial gestational hyperthyroidism Orphanet_99819
Dengue virus infection Orphanet_99828
Acute megakaryoblastic leukemia in children with Down syndrome Orphanet_99887
Acute megakaryoblastic leukemia in children with trisomy 21 Orphanet_99887
Genetic recurrent myoglobinuria Orphanet_99845
Autosomal dominant myoglobinuria Orphanet_99846
Isolated permanent neonatal diabetes mellitus Orphanet_99885
Monogenic diabetes of infancy Orphanet_99885