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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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Curatolo-Cilio-Pessagno syndrome
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Orphanet_3207 |
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Isolated succinate-coenzyme Q reductase deficiency
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Orphanet_3208 |
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Spastic paraplegia-optic atrophy-neuropathy syndrome
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Orphanet_320406 |
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Pure or complex X-linked spastic paraplegia
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Orphanet_320350 |
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Pure or complex autosomal dominant spastic paraplegia
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Orphanet_320342 |
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Pure or complex autosomal recessive spastic paraplegia
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Orphanet_320346 |
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Pure or complex familial spastic paraplegia
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Orphanet_320335 |
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Pure or complex hereditary spastic paraplegia
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Orphanet_320335 |
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Pure or complicated X-linked spastic paraplegia
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Orphanet_320350 |
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Pure or complicated autosomal dominant spastic paraplegia
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Orphanet_320342 |
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Pure or complicated autosomal recessive spastic paraplegia
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Orphanet_320346 |
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Pure or complicated familial spastic paraplegia
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Orphanet_320335 |
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Pure or complicated hereditary spastic paraplegia
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Orphanet_320335 |
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11-beta-hydroxysteroid dehydrogenase deficiency type 2
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Orphanet_320 |
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Isolated succinate dehydrogenase deficiency
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Orphanet_3208 |
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