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
Rosenberg-Lohr syndrome Orphanet_1837
Metaphyseal chondrodysplasia, Rosenberg type Orphanet_1837
Infantile LAD-like disease due to RAC2 deficiency Orphanet_183707
Bacterial susceptibility due to TLR signaling pathway deficiency Orphanet_183713
Rare genetic gynecological and obstetrical diseases Orphanet_183731
Rare genetic immune disease Orphanet_183770
Rare genetic intellectual disability Orphanet_183757
Rare genetic syndromic intellectual disability Orphanet_183763
Genetic susceptibility to infections due to particular pathogens Orphanet_183710
Genetic gynecological tumor Orphanet_183734