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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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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/
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20,514 entries
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There is 0 pattern entry.
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DLBCL
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Orphanet_544 |
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SP-HUS
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Orphanet_544493 |
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SYNGAP1-related DEE
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Orphanet_544254 |
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Infection-related HUS
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Orphanet_544482 |
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Bachmann-Bupp syndrome
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Orphanet_544488 |
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Diffuse large B-cell lymphoma
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Orphanet_544 |
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RNF13-related severe EOEE
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Orphanet_544503 |
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S. pneumoniae-associated HUS
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Orphanet_544493 |
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SYNGAP1-related developmental and epileptic encephalopathy
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Orphanet_544254 |
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Collagen-related glomerular basement membrane disease
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Orphanet_544590 |
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aHUS with complement gene abnormality
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Orphanet_544472 |
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Ornithine decarboxylase deficiency
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Orphanet_544488 |
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RNF13-related severe early-onset epileptic encephalopathy
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Orphanet_544503 |
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Streptococcus pneumoniae-associated hemolytic uremic syndrome
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Orphanet_544493 |
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Congenital primary megaureter, refluxing and obstructed form
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Orphanet_544578 |
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