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
Primary dystonia, DYT4 type Orphanet_98805
Primary dystonia, DYT6 type Orphanet_98806
Severe dystrophinopathy, Duchenne type Orphanet_98896
Autosomal dominant Emery-Dreifuss muscular dystrophy Orphanet_98853
Autosomal recessive Emery-Dreifuss muscular dystrophy Orphanet_98855
Complex X-linked HSP Orphanet_98888
Complicated X-linked HSP Orphanet_98888
CDA type I Orphanet_98869
CDA type II Orphanet_98873
CDA type III Orphanet_98870
Congenital factor IX deficiency Orphanet_98879
Primary acquired PRCA Orphanet_98872
Complex X-linked SPG Orphanet_98888
Complicated X-linked SPG Orphanet_98888
Autosomal dominant Segawa syndrome Orphanet_98808