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
Early-onset benign childhood occipital epilepsy Orphanet_98815
Late-onset benign childhood occipital epilepsy Orphanet_98816
Paroxysmal kinesigenic choreathetosis Orphanet_98809
Paroxystic non-kinesigenic choreoathetosis Orphanet_98810
Primary mediastinal clear cell lymphoma of B-cell type Orphanet_98838
Congenital F8 deficiency Orphanet_98878
Congenital FVIII deficiency Orphanet_98878
Congenital F9 deficiency Orphanet_98879
Unclassified myelodysplastic/myeloproliferative disease Orphanet_98825
Autosomal dominant dopa-responsive dystonia Orphanet_98808
Bleeding diathesis due to glycoprotein VI deficiency Orphanet_98885
Bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet_98886
Paroxysmal kinesigenic dyskinesia Orphanet_98809
Paroxysmal non-kinesigenic dyskinesia Orphanet_98810
Paroxysmal exertion-induced dyskinesia Orphanet_98811