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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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COXPD2
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Orphanet_254920 |
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COXPD4
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Orphanet_254925 |
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COXPD7
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Orphanet_254930 |
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Moeschler-Clarren syndrome
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Orphanet_2549 |
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Isolated cytochrome C oxidase deficiency
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Orphanet_254905 |
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Severe C12ORF65-related COXPD
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Orphanet_254930 |
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Hemifacial microsomia-radial defects syndrome
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Orphanet_2549 |
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Isolated COX deficiency
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Orphanet_254905 |
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Renal tubulopathy-encephalopathy-liver failure syndrome
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Orphanet_254902 |
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Combined oxidative phosphorylation defect type 2
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Orphanet_254920 |
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Combined oxidative phosphorylation defect type 4
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Orphanet_254925 |
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Combined oxidative phosphorylation defect type 7
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Orphanet_254930 |
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Isolated mitochondrial respiratory chain complex IV deficiency
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Orphanet_254905 |
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Isolated mitochondrial respiratory chain complex V deficiency
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Orphanet_254913 |
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Isolated ATP synthase deficiency
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Orphanet_254913 |
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