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
Juvenile cataract-microcornea-renal glucosuria syndrome Orphanet_247794
Juvenile cataract-microcornea-renal glycosuria syndrome Orphanet_247794
Idiopathic eosinophilia-associated myopathy Orphanet_247724
Idiopathic eosinophilic myositis Orphanet_247724
Multiple endocrine neoplasia type 2B Orphanet_247709
Multiple endocrine neoplasia type 3 Orphanet_247709
Congenital absence of uterus and vagina Orphanet_247775
FTH1-associated iron overload Orphanet_247790
FTH1-related iron overload Orphanet_247790
MRKH syndrome type 1 Orphanet_247775
Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet_247775
Inflammatory myopathy with abundant macrophages Orphanet_247718