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
Indeterminate cell histiocytosis Orphanet_158019
Progressive nodular histiocytosis Orphanet_158022
Genetic hemophagocytic lymphohistiocytosis Orphanet_158038
Primary hemophagocytic lymphohistiocytosis Orphanet_158038
Acquired hemophagocytic lymphohistiocytosis Orphanet_158041
Secondary hemophagocytic lymphohistiocytosis Orphanet_158041
Isolated bone marrow mastocytosis Orphanet_158778
Smoldering systemic mastocytosis Orphanet_158775
Hereditary progressive mucinous histiocytosis Orphanet_158025
Localized DEB, nails only Orphanet_158676
Huntington disease phenocopy syndrome Orphanet_158266
Typical urticaria pigmentosa Orphanet_158766
Plaque-form urticaria pigmentosa Orphanet_158769
Nodular urticaria pigmentosa Orphanet_158772
Deficiency of plasma-membrane carnitine transporter Orphanet_158