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 dominant cerebellar ataxia type 3 Orphanet_94148
Autosomal dominant cerebellar ataxia type 4 Orphanet_94149
Autosomal dominant cerebellar ataxia type I Orphanet_94145
Autosomal dominant cerebellar ataxia type III Orphanet_94148
Autosomal dominant cerebellar ataxia type IV Orphanet_94149
D-glycerate kinase deficiency Orphanet_941
Cerebellar syndrome-pigmentary maculopathy syndrome Orphanet_94147
Ataxia with pigmentary retinopathy Orphanet_94147
Cerebellar plus syndrome Orphanet_94145
Pure cerebellar syndrome-mild pyramidal signs syndrome Orphanet_94148
Anonychia congenita totalis Orphanet_94150
Spinocerebellar ataxia type 7 Orphanet_94147
Spinocerebellar ataxia with axonal neuropathy type 1 Orphanet_94124