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
ACDMPV Orphanet_210122
DIRA Orphanet_210115
OMPP Orphanet_210115
Intermediate osteopetrosis Orphanet_210110
Urocanic aciduria Orphanet_210128
Adult HCC Orphanet_210159
Interleukin-1 receptor antagonist deficiency Orphanet_210115
Congenital alveolar capillary dysplasia Orphanet_210122
Adult hepatocellular carcinoma Orphanet_210159
Developmental delay-hypotonia-extremities hypertrophy syndrome Orphanet_2101
Autosomal recessive intermediate osteopetrosis Orphanet_210110
Congenital lethal myopathy, Compton-North type Orphanet_210163
Sterile multifocal osteomyelitis with periostitis and pustulosis Orphanet_210115
Inherited congenital spastic quadriplegia Orphanet_210141
Inherited congenital spastic tetraplegia Orphanet_210141