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
Rh deficiency syndrome Orphanet_71275
Imploding antrum syndrome Orphanet_71276
Silent sinus syndrome Orphanet_71276
Inherited glutamine synthetase deficiency Orphanet_71278
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Orphanet_71289
Rare soft tissue tumor Orphanet_71209
Encephalopathy due to GLUT1 deficiency Orphanet_71277
Hyperinsulinism due to SCHAD deficiency Orphanet_71212
Hyperinsulinism due to glutamodehydrogenase deficiency Orphanet_71212
Classic glucose transporter type 1 deficiency syndrome Orphanet_71277
Rare mesenchymal tumor Orphanet_71209
Left renal vein entrapment syndrome Orphanet_71273