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
Chromosomal anomaly with cataract Orphanet_98642
Metabolic disease with cataract Orphanet_98644
Renal disease with cataract Orphanet_98646
Musculoskeletal disease with cataract Orphanet_98648
Dentocutaneous disease with cataract Orphanet_98649
Craniofacial anomaly with cataract Orphanet_98650
Rare disorder with conjunctival involvement as a major feature Orphanet_98610
Neurodegenerative disease with dementia Orphanet_98534
Frontotemporal degeneration with dementia Orphanet_98535
Early-onset ataxia with dementia Orphanet_98539
Late-onset ataxia with dementia Orphanet_98540
Infectious disease with dementia Orphanet_98542
Metabolic disease with dementia Orphanet_98543
Cerebral lipidosis with dementia Orphanet_98544
Congenital myopathy with excess of thin filaments Orphanet_98904