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| created at |
2024-09-23 16:23:50 UTC |
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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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Diaphorase deficiency
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Orphanet_255182 |
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Pyruvate dehydrogenase E3-binding protein deficiency
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Orphanet_255182 |
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Branched chain alpha-ketoacid dehydrogenase complex deficiency
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Orphanet_255182 |
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Pyruvate dehydrogenase complex component E3 deficiency
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Orphanet_255182 |
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2-oxoglutarate complex deficiency
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Orphanet_255182 |
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Dihydrolipoyl dehydrogenase deficiency
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Orphanet_255182 |
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Lipoamide dehydrogenase deficiency
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Orphanet_255182 |
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Pyruvate dehydrogenase protein X component deficiency
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Orphanet_255182 |
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Glycine cleavage system L protein deficiency
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Orphanet_255182 |
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