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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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Mitochondrial DNA-associated Leigh syndrome
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Orphanet_255210 |
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Verloes-Van Maldergem-de Marneffe syndrome
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Orphanet_2551 |
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Intellectual disability, Mietens-Weber type
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Orphanet_2557 |
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Branched chain alpha-ketoacid dehydrogenase complex deficiency
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Orphanet_255182 |
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GLRX5-related sideroblastic anemia
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Orphanet_255132 |
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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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Maternally-inherited Leigh disease
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Orphanet_255210 |
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HPD with diurnal fluctuation
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Orphanet_255 |
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Hereditary progressive dystonia with diurnal fluctuation
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Orphanet_255 |
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Microphthalmia with linear skin defects syndrome
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Orphanet_2556 |
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Pyruvate dehydrogenase protein X component deficiency
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Orphanet_255182 |
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Adult-onset autosomal recessive sideroblastic anemia
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Orphanet_255132 |
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