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
Genetic photodermatosis Orphanet_183490
Hereditary ataxia Orphanet_183518
Genetic polyendocrinopathy Orphanet_183643
Kappa-chain deficiency Orphanet_183675
Rosenberg-Lohr syndrome Orphanet_1837
Urban-Schosser-Spohn syndrome Orphanet_1839
Mesomelic dysplasia, Kantaputra type Orphanet_1836
Metaphyseal chondrodysplasia, Rosenberg type Orphanet_1837
Mesomelic dysplasia, Thai type Orphanet_1836
Rare genetic adrenal disease Orphanet_183637
Genetic head and neck malformation Orphanet_183583
Genetic lens and zonula anomaly Orphanet_183607
Rare constitutional anemia Orphanet_183651
Granulomatous allergic angiitis Orphanet_183
Genetic hair anomaly Orphanet_183450