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
Monosomy 3q29 Orphanet_65286
Monosomy 3qter Orphanet_65286
Beta-ureidopropionase deficiency Orphanet_65287
KWWH type II Orphanet_65282
Follicular T-cell Lymphoma Orphanet_652650
Follicular helper T-cell lymphoma, follicular type Orphanet_652650
Pancreatic and cerebellar agenesis Orphanet_65288
Beta-alanine synthase deficiency Orphanet_65287
3q subtelomere deletion syndrome Orphanet_65286
Biotin-responsive basal ganglia disease Orphanet_65284
Biotin-thiamine-responsive basal ganglia disease Orphanet_65284
Nodal T-follicular helper cell lymphoma, follicular type Orphanet_652650
Monomorphic epitheliotropic intestinal T-cell lymphoma Orphanet_652658
Non-syndromic supernumerary kidney Orphanet_652528
Non-syndromic accessory kidneys Orphanet_652528