ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
Pediatric systemic lupus erythematosus Orphanet_93552
Familial amyloid nephropathy due to apolipoprotein A-I variant Orphanet_93560
Hereditary amyloid nephropathy due to apolipoprotein A-I variant Orphanet_93560
Familial amyloid nephropathy due to lysozyme variant Orphanet_93561
Hereditary amyloid nephropathy due to lysozyme variant Orphanet_93561
aHUS with neutralizing autoantibodies against factor H Orphanet_93581
Congenital anomalies of kidney and urinary tract Orphanet_93545
SLE, pediatric onset Orphanet_93552
Non-syndromic renal or urinary tract malformation Orphanet_93546
Syndromic renal or urinary tract malformation Orphanet_93547
Genetic cystic renal disease Orphanet_93587
Hereditary cystic renal disease Orphanet_93587
Short limb skeletal dysplasia with SCID Orphanet_935
Congenital thrombotic thrombocytopenic purpura Orphanet_93583
Acquired thrombotic thrombocytopenic purpura Orphanet_93585