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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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Thomas-Jewett-Raines syndrome
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Orphanet_2547 |
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Benign hyperferritinemia
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Orphanet_254704 |
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Citric acid cycle disorder
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Orphanet_254749 |
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Tricarboxylic acid cycle disorder
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Orphanet_254749 |
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Pyruvate metabolism disorder
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Orphanet_254746 |
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Krebs cycle disorder
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Orphanet_254749 |
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TCA cycle disorder
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Orphanet_254749 |
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OXPHOS disease due to a large-scale single deletion of mtDNA
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Orphanet_254767 |
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OXPHOS disease due to a point mutation of mitochondrial DNA
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Orphanet_254776 |
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OXPHOS disease due to a point mutation of mtDNA
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Orphanet_254776 |
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OXPHOS disease due to mitochondrial DNA anomalies
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Orphanet_254758 |
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OXPHOS disease due to mtDNA anomalies
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Orphanet_254758 |
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Mitochondrial DNA-related mitochondrial myopathy
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Orphanet_254788 |
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Maternally-inherited mitochondrial myopathy
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Orphanet_254788 |
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mtDNA-related mitochondrial myopathy
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Orphanet_254788 |
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