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
Autosomal recessive limb-girdle muscular dystrophy type 2A Orphanet_267
Calpain-3-related limb-girdle muscular dystrophy R1 Orphanet_267
Recurrent encephalophathy of childhood Orphanet_2672
Microcoria-congenital nephrosis syndrome Orphanet_2670
Freire Maia-Pinheiro-Opitz syndrome Orphanet_2673
Cyprus facial-neuromusculoskeletal syndrome Orphanet_2674
Glutaric acidemia type 2 Orphanet_26791
Glutaric aciduria type 2 Orphanet_26791