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
Logopenic progressive aphasia Orphanet_250831
Myalgia-eosinophilia syndrome associated with tryptophan Orphanet_2582
Desmoplastic infantile astrocytoma/ganglioglioma Orphanet_251940
Bedouin spastic ataxia syndrome Orphanet_2572
Mitochondrial spinocerebellar ataxia with epilepsy Orphanet_254881
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Orphanet_2590
Junctional epidermolysis bullosa, non-Herlitz localized type Orphanet_251393
Short tendo calcaneus Orphanet_251515
Choroid plexus carcinoma Orphanet_251899
Mitochondrial substrate carrier disorder Orphanet_254830
Subependymal giant cell astrocytoma Orphanet_251618
Primary germ cell tumor of CNS Orphanet_251995
Mixed germ cell tumor of CNS Orphanet_252021
Primary germ cell tumor of central nervous system Orphanet_251995
Mixed germ cell tumor of central nervous system Orphanet_252021