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
Thanatophoric dwarfism type 2 Orphanet_93274
Thanatophoric dysplasia type 2 Orphanet_93274
Preaxial polydactyly type 2 Orphanet_93336
Spondyloepimetaphyseal dysplasia type 2 Orphanet_93356
Juvenile sialidosis type 2 Orphanet_93399
Congenital sialidosis type 2 Orphanet_93400
Membranoproliferative glomerulonephritis type 2 Orphanet_93571
Primary hyperoxaluria type 2 Orphanet_93599
Dent disease type 2 Orphanet_93623
Laryngo-tracheo-esophageal cleft type 2 Orphanet_93939
Laryngotracheoesophageal cleft type 2 Orphanet_93939
Pfeiffer syndrome type 3 Orphanet_93260
Preaxial polydactyly type 3 Orphanet_93337
Primary hyperoxaluria type 3 Orphanet_93600
Bartter syndrome type 3 Orphanet_93605