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
Glycogenosis type 13 Orphanet_99849
BRIC type 2 Orphanet_99961
Mosaic trisomy 9 Orphanet_99776
Acyl-CoA dehydrogenase 9 deficiency Orphanet_99901
Occult ectopic ACTH secretion Orphanet_99889
Unilateral Pulmonary Artery Hypoplasia Orphanet_99083
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet_99946
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Orphanet_99947
Autosomal dominant Charcot-Marie-Tooth disease type 2B Orphanet_99936
Autosomal dominant Charcot-Marie-Tooth disease type 2C Orphanet_99937
Autosomal dominant Charcot-Marie-Tooth disease type 2D Orphanet_99938
Autosomal dominant Charcot-Marie-Tooth disease type 2E Orphanet_99939
Autosomal dominant Charcot-Marie-Tooth disease type 2F Orphanet_99940
Autosomal dominant Charcot-Marie-Tooth disease type 2G Orphanet_99941
Autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet_99942