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
Isolated SCCH Orphanet_178311
Forsius-Eriksson syndrome Orphanet_178333
UV-sensitive syndrome Orphanet_178338
Familial hyperestrogenism Orphanet_178345
Smith-McCort dysplasia Orphanet_178355
Osteopetrosis-hypogammaglobulinemia syndrome Orphanet_178389
Acrofrontofacionasal dysostosis Orphanet_1784
Richieri-Costa-Colletto syndrome Orphanet_1784
Edström Myopathy Orphanet_178464
Myofibrillar myopathy-titinopathy Orphanet_178464
Inoculation botulism Orphanet_178475
Wound botulism Orphanet_178475
Infant botulism Orphanet_178478
Infantile botulism Orphanet_178478
Intestinal botulism Orphanet_178481