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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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Mosaic neurofibromatosis type 3
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Orphanet_634492 |
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Charcot-Marie-Tooth disease type 3
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Orphanet_64748 |
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3-methylglutaconic aciduria type 3
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Orphanet_67047 |
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Charcot-Marie-Tooth disease type 4
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Orphanet_64749 |
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Distal arthrogryposis type 4
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Orphanet_65720 |
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3-methylglutaconic aciduria type 4
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Orphanet_67048 |
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Spinocerebellar ataxia type 44
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Orphanet_631095 |
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Spinocerebellar ataxia type 48
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Orphanet_631103 |
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Spinocerebellar ataxia type 49
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Orphanet_631106 |
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3-methylglutaconic aciduria type 5
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Orphanet_66634 |
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Distal arthrogryposis type 8
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Orphanet_65743 |
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Niemann-Pick disease type A/B
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Orphanet_618891 |
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Niemann-Pick disease type C
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Orphanet_646 |
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Bartter syndrome type I
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Orphanet_620217 |
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Bartter syndrome type II
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Orphanet_620220 |
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