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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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Benign COX deficiency
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Orphanet_254864 |
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Deoxyguanosine kinase deficiency
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Orphanet_254871 |
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Isolated COX deficiency
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Orphanet_254905 |
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Multiple mtDNA deletion syndrome
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Orphanet_254807 |
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Mitochondrial DNA depletion syndrome, encephalomyopathic form
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Orphanet_254803 |
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Mitochondrial DNA depletion syndrome, hepatocerebral form
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Orphanet_254871 |
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Mitochondrial DNA depletion syndrome, myopathic form
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Orphanet_254875 |
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Gestational trophoblastic disease
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Orphanet_254685 |
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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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Unspecified mitochondrial disorder
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Orphanet_254837 |
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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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