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
Rare eyelid malposition disorder Orphanet_98567
HPD with marked diurnal fluctuation Orphanet_98808
Indolent systemic mastocytosis Orphanet_98848
Aggressive systemic mastocytosis Orphanet_98850
Respiratory or mediastinal malformation Orphanet_98045
Anterior basement membrane dystrophy Orphanet_98956
Epithelial basement membrane dystrophy Orphanet_98956
Anterior limiting membrane dystrophy type 1 Orphanet_98961
Anterior limiting membrane dystrophy type 2 Orphanet_98960
Anterior limiting membrane dystrophy type I Orphanet_98961
Anterior limiting membrane dystrophy type II Orphanet_98960
Autosomal recessive metabolic cerebellar ataxia Orphanet_98096
Total autosomal monosomy Orphanet_98141
Partial autosomal monosomy Orphanet_98142
Acute pure motor GBS Orphanet_98918