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
De Vivo disease Orphanet_71277
Rare bleeding disorder due to a constitutional platelet anomaly Orphanet_71202
Familial platelet disorder with associated myeloid malignancy Orphanet_71290
Leiomyomatosis peritonealis disseminate Orphanet_71274
Rare coagulopathy due to a constitutional platelet anomaly Orphanet_71202
Hemolytic anemia due to glucophosphate isomerase deficiency Orphanet_712
Split hand-split foot-deafness syndrome Orphanet_71271
Split hand-split foot-hearing loss syndrome Orphanet_71271
Retinal cavernous hemangioma Orphanet_71213
Diffuse peritoneal leiomyomatosis Orphanet_71274
Disseminated peritoneal leiomyomatosis Orphanet_71274
Retinal capillary malformation Orphanet_71213
Rare central nervous system and retinal vascular disease Orphanet_71281
Renal nutcracker syndrome Orphanet_71273
Neuromyelitis optica spectrum disorder Orphanet_71211