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
POMGNT2-related muscular dystrophy Orphanet_565899
Limb-girdle muscular dystrophy type D4 Orphanet_565909
Limb-girdle muscular dystrophy type R24 Orphanet_565899
Menkes kinky hair disease Orphanet_565
Calpain-3-related limb-girdle muscular dystrophy D4 Orphanet_565909
POMGNT2-related limb-girdle muscular dystrophy R24 Orphanet_565899
GFM2-related combined oxidative phosphorylation defect Orphanet_565624
Combined oxidative phosphorylation defect type 39 Orphanet_565624