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
Congenital TTP Orphanet_93583
Familial TTP Orphanet_93583
Upshaw-Schulman syndrome Orphanet_93583
Acquired TTP Orphanet_93585
Late-onset nephronophthisis Orphanet_93589
Infantile nephronophthisis Orphanet_93591
Juvenile nephronophthisis Orphanet_93592
Glycolic aciduria Orphanet_93598
L-glyceric aciduria Orphanet_93599
MC type II Orphanet_93554
MC type III Orphanet_93555
Achondroplasia-Swiss type agammaglobulinemia syndrome Orphanet_935
Fibrinogen A alpha-chain amyloidosis Orphanet_93562
Peroxisomal alanine-glyoxylate aminotransferase deficiency Orphanet_93598
Apolipoprotein A-I amyloidosis Orphanet_93560