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
Combined immunodeficiency due to RELA haploinsufficiency Orphanet_596759
FOXG1 syndrome due to intragenic alteration Orphanet_598164
Distal muscular dystrophy Orphanet_599
Hypomyelination of early myelinating structures Orphanet_599376
Acute disseminated encephalomyelitis with anti-MOG antibodies Orphanet_592894
Acute disseminated encephalomyelitis without anti-MOG antibodies Orphanet_592900
Localized dystrophic epidermolysis bullosa Orphanet_595356
EBS without extracutaneous involvement Orphanet_595346
EBS with extracutaneous involvement Orphanet_595351
Incomplete septal fibrosis Orphanet_596941
Sorsby pseudoinflammatory fundus dystrophy Orphanet_59181
Euthyroid dysprealbuminemic hyperthyroxinemia Orphanet_597939
Euthyroid dystransthyretinemic hyperthyroxinemia Orphanet_597939
Congenital adrenal hypoplasia Orphanet_595337
Primary adrenal hypoplasia Orphanet_595337