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
Donohue syndrome Orphanet_508
Singh-Williams-McAlister syndrome Orphanet_50809
Talo-patello-scaphoid osteolysis Orphanet_50809
Dystonia 29 Orphanet_508093
MEPAN syndrome Orphanet_508093
Basel-Vanagaite-Sirota syndrome Orphanet_50810
Microlissencephaly-micromelia syndrome Orphanet_50810
Rajab-Spranger syndrome Orphanet_50811
Ahn-Lerman-Sagie syndrome Orphanet_50812
Boyadjiev-Jabs syndrome Orphanet_50814
Craniolenticulosutural dysplasia Orphanet_50814
Mégarbané-Loiselet syndrome Orphanet_50815
Verloes-Deprez syndrome Orphanet_50817
Cat-scratch disease Orphanet_50839
Deletion 8q24.3 Orphanet_508488