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
BDCS Orphanet_113
Bazex-Dupré-Christol syndrome Orphanet_113
AREDYLD syndrome Orphanet_1133
Isolated arrhinia Orphanet_1134
Mandibulofacial dysostosis, Toriello type Orphanet_1131
Isolated nose agenesis Orphanet_1134
Follicular atrophoderma and basal cell carcinomas Orphanet_113
X-linked branchial arch syndrome Orphanet_1131
Aortic arch defects Orphanet_1132
X-linked mandibulofacial dysostosis Orphanet_1131
X-linked mandibulofacial dysostosis with limb anomalies Orphanet_1131
Acrorenal defect-ectodermal dysplasia-diabetes syndrome Orphanet_1133
Abnormal origin of the pulmonary artery Orphanet_1138
De Die-Smulders-Vles-Fryns syndrome Orphanet_1130
Arachnodactyly-intellectual disability-dysmorphism syndrome Orphanet_1130