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
LGMD2H Orphanet_1878
Sarcotubular myopathy Orphanet_1878
LGMD type 2H Orphanet_1878
TRIM32-related LGMD R8 Orphanet_1878
Limb-girdle muscular dystrophy due to TRIM32 deficiency Orphanet_1878
Limb-girdle muscular dystrophy type 2H Orphanet_1878
Autosomal recessive limb-girdle muscular dystrophy type 2H Orphanet_1878
TRIM32-related limb-girdle muscular dystrophy R8 Orphanet_1878
LGMD due to TRIM32 deficiency Orphanet_1878