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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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Multiple mitochondrial DNA deletion syndrome
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Orphanet_254807 |
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Rare cutaneous LP
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Orphanet_254370 |
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Rare mucosal LP
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Orphanet_254373 |
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Annular atrophic LP
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Orphanet_254411 |
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Plectin-related LGMD R17
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Orphanet_254361 |
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Lichen planus actinus
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Orphanet_254395 |
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Frontal fibrosing alopecia
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Orphanet_254492 |
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Mitochondrial spinocerebellar ataxia with epilepsy
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Orphanet_254881 |
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Mitochondrial substrate carrier disorder
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Orphanet_254830 |
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Isolated respiratory chain complex disorder
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Orphanet_254846 |
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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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Reversible infantile cytochrome C oxidase deficiency
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Orphanet_254864 |
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Infantile reversible cytochrome C oxidase deficiency myopathy
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Orphanet_254864 |
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Hemifacial microsomia-radial defects syndrome
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Orphanet_2549 |
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