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
COXPD39 Orphanet_565624
LGMD1I Orphanet_565909
TGCV Orphanet_565612
Menkes disease Orphanet_565
Menkes syndrome Orphanet_565
Methotrexate toxicity Orphanet_565782
LGMD type D4 Orphanet_565909
LGMD type R23 Orphanet_565837
LGMD type R24 Orphanet_565899
POMGNT2-related LGMD R24 Orphanet_565899
Laminin subunit alpha 2-related LGMD R23 Orphanet_565837
Laminin subunit alpha 2-related late-onset muscular dystrophy Orphanet_565837
Aplastic desmosis coli Orphanet_565641
Primary desmosis coli Orphanet_565641
Primary triglyceride deposit cardiomyovasculopathy Orphanet_565612