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
Complication after organ transplantation Orphanet_306644
X-linked complicated spastic paraplegia type 1 Orphanet_306617
Autosomal recessive spastic paraplegia type 48 Orphanet_306511
Rare parkinsonian syndrome due to intoxication Orphanet_306679
Rare parkinsonian syndrome due to neurodegenerative disease Orphanet_306666
PTEN hamartoma tumor syndrome Orphanet_306498
Familial normophosphatemic tumoral calcinosis Orphanet_306658
Frontonasal dysplasia type 3 Orphanet_306542
Non-infectious anterior uveitis Orphanet_306648
Neurodegenerative disease with chorea Orphanet_306719
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Orphanet_306516
Frontotemporal neurodegeneration with movement disorder Orphanet_306708
Rare disease with myoclonus as a major feature Orphanet_306753