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
K-aggravated myotonia Orphanet_612
Potassium-aggravated myotonia Orphanet_612
Myotonia congenita Orphanet_614
Granuloma faciale Orphanet_615943
Classic EPF Orphanet_617408
Ofuji disease Orphanet_617408
PLMT syndrome Orphanet_617440
Conjunctival melanoma Orphanet_617910
Familial melanoma Orphanet_618
Dias-Logan syndrome Orphanet_619233
NOCARH syndrome Orphanet_619363
CADINS disease Orphanet_619972
LGMD D5 collagen 6-related dystrophy Orphanet_610
LGMD R22 collagen 6-related dystrophy Orphanet_610
LGMD D5 collagen VI-related dystrophy Orphanet_610