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
Monomorphic epitheliotropic intestinal T-cell lymphoma Orphanet_652658
Benign recurrent intrahepatic cholestasis Orphanet_65682
Non-syndromic supernumerary kidney Orphanet_652528
Non-syndromic accessory kidneys Orphanet_652528
Non-syndromic supernumerary kidneys Orphanet_652528
Multiple endocrine neoplasia type 1 Orphanet_652
Non-syndromic accessory kydney Orphanet_652528
Isolated anomalous left pulmonary artery Orphanet_658574
Multiple endocrine neoplasia type 2 Orphanet_653
Genetic steroid-resistant nephrotic syndrome Orphanet_656
Hereditary steroid-resistant nephrotic syndrome Orphanet_656
Transplant-related bronchiolitis obliterans Orphanet_658602
Periodic fever-immunodeficiency-thrombocytopenia syndrome Orphanet_652522
3q29 microdeletion syndrome Orphanet_65286
CHD4-related neurodevelopmental syndrome Orphanet_653712