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
Autosomal recessive spinocerebellar ataxia type 3 Orphanet_95433
Congenital tricuspid stenosis Orphanet_95459
Feto-fetal transfusion syndrome Orphanet_95431
Anomaly of the tricuspid subvalvular apparatus Orphanet_95463
Lissencephaly due to LIS1 mutation Orphanet_95232
Congenital unguarded tricuspid orifice Orphanet_95457
Twin to twin transfusion syndrome Orphanet_95431
Acroosteolysis dominant type Orphanet_955
CDG syndrome type IIh Orphanet_95428
Cleft mitral valve Orphanet_95465
Double-orifice mitral valve Orphanet_95474
Congenital aortic valve atresia Orphanet_95448
Congenital mitral valve insufficiency and/or stenosis Orphanet_95464
Accessory tricuspid valve tissue Orphanet_95462
Acquired arginine vasopressin deficiency Orphanet_95626