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
Muckle-Wells syndrome Orphanet_575
Neutrophilic urticaria Orphanet_575
I-cell disease Orphanet_576
Intermediate AVSD Orphanet_576242
SATB2-associated syndrome Orphanet_576278
Variant MCJ Orphanet_576370
Iatrogenic MCJ Orphanet_576379
Genetic HUS Orphanet_576742
Pseudo-Hurler polydystrophy Orphanet_577
Cirrhotic cardiomyopathy Orphanet_57777
Mazabraud syndrome Orphanet_57782
Alpha-L-iduronidase deficiency Orphanet_579
Alexander disease Orphanet_58
Hunter syndrome Orphanet_580
Leukemic reticuloendotheliosis Orphanet_58017