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
PSVD Orphanet_596937
XLCNM Orphanet_596
XLMTM Orphanet_596
VEXAS syndrome Orphanet_596753
Incomplete septal cirrhosis Orphanet_596941
IgG4-related systemic disease Orphanet_596448
Portosinusoidal vascular disease Orphanet_596937
Combined immunodeficiency due to RELA haploinsufficiency Orphanet_596759
Incomplete septal fibrosis Orphanet_596941
X-linked centronuclear myopathy Orphanet_596
X-linked myotubular myopathy Orphanet_596
Syndrome of reduced sensitivity to thyroid hormone Orphanet_596426
CID due to RELA haploinsufficiency Orphanet_596759